HP_MULTICYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTICYSTIC_KIDNEY_DYSPLASIA CHRM3 RPGRIP1L PEX11B BUB1B HNF1B CC2D2A ARL6 WDPCP PEX12 LZTFL1 TMEM216 TMEM67 LAMB3 TMEM231 NPHP3 NXN PIGN MKKS RPGRIP1 PEX19 IFT27 AMER1 PEX6 OFD1 GPC4 CEP55 CD96 BUB1 CEP290 BBS1 PEX2 B9D1 HDAC8 ARL3 BUB3 TCTN2 TRIM32 BBIP1 ZEB2 BBS10 BBS5 NIPBL PEX10 LMOD1 RSPO2 ARL6IP6 BBS9 PIEZO2 B9D2 KMT2A BBS4 FIBP PEX16 B3GLCT CEP57 GPC3 TMEM107 SNRPB SIX5 BBS12 TFAP2A WNT3 PEX5 PEX26 LHX1 IFT172 INPP5E PEX13 SMC1A HOXD13 KAT6B ROR2 SETD5 MKS1 FLI1 HDAC4 EYA1 LAMC2 CSPP1 MCTP2 GREB1L C8orf37 NPHP1 SPOP FREM2 BBS7 MBTPS2 TRIP13 SALL1 SDCCAG8 LAMA3 PAX2 TBX18 PEX1 MYH11 MYLK PORCN GRIP1 PEX3 DHCR7 TTC8 RAD21 SMC3 FRAS1 HNF4A ACTG2 PEX14 BBS2 SIX1 HP_RECURRENT_URINARY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_URINARY_TRACT_INFECTIONS CHRM3 CIITA CLIP2 HSPA9 NBN CISD2 ATP7A HPSE2 HOXA13 LAMB3 ALMS1 STAR BRCA1 IL2RB RFXANK CFI FANCD2 SLX4 MLXIPL SLC35C1 RFX5 BNC2 DZIP1L KANSL1 BRIP1 APRT FANCB SHANK3 SAMD9 CRKL ARL3 ATRX AGXT GTF2IRD1 PEPD IL17RC GTF2I CREBBP SLC46A1 SLC3A1 FANCM LRIG2 FBLN5 PKHD1 THOC6 MAPK1 RFC2 PKD2 PALB2 POLR3A FLVCR1 TRAIP EP300 ERCC4 FANCF WASF1 MAN2B1 BCR EXT1 TBL2 PKD1 PIK3CD FANCI IL17RA PRKCD XRCC2 BRCA2 BTK CHRNA3 RFXAP IL17F TXNRD2 SLC7A9 FOXC2 FANCC RAD51C BICC1 ELN ADNP ISL1 LAMC2 DYRK1A PNP BAZ1B LIMK1 MRAP GANAB MSN FANCL FANCE WFS1 TNXB LAMA3 UBE2T RFWD3 TRPS1 MNX1 FANCG NNT GRHPR CLEC7A FANCA KCTD1 MAD2L2 KNSTRN CLDN16 TP63 BLM RAD51 MC2R CLDN19 TRAF3IP2 EFEMP2 HP_NEUROGENIC_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROGENIC_BLADDER GJA1 WFS1 ATXN3 TBCD ACER3 PEX3 PLP1 ERCC6 ERCC8 SNCA MTFMT MNX1 VPS11 COG7 CHRNA3 COG5 TBCK MAP3K7 FBXO7 ELOVL1 GBE1 ATP13A2 TRAPPC12 CISD2 FARS2 ARNT2 PPOX VANGL1 HP_URINARY_URGENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_URGENCY SPG11 UBAP1 ATXN10 PINK1 SPG7 ATL1 TRPV4 CACNA1G TBP LMNB1 ALDH18A1 ALMS1 NR4A2 KIF5A GBA CPT1C ATXN8OS RTN2 KCNC3 HSPD1 MAPT REEP1 GLUD2 ZFYVE26 ATXN2 B4GALNT1 FA2H ADH1C MARS2 SPAST SNCAIP HPDL LRIG2 SNCA WASHC5 SACS NIPA1 COQ2 HP_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_UTERUS SOHLH1 IRF6 B3GLCT HCCS SPRY4 NIN FOXL2 HS6ST1 GNRH1 BMP15 LARS2 HNF1B WDR11 DUSP6 CYP17A1 FGF8 NR5A1 FIGLA KISS1 CYB5A NUP107 ESR1 FGFR1 CYP11B1 NSMF DHH KISS1R COX7B CHD7 STRA6 NDUFB11 ANOS1 DCAF17 PROKR2 CLPP MRPS22 TAC3 FGF17 PROK2 ERAL1 BMPR1B TACR3 GNRHR WNT4 HP_ABNORMALITY_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BLADDER STAT1 CLIP2 SALL4 PUF60 CDH11 SCN9A ATXN10 ACER3 ATP7A NEXMIF TBX1 ATRX PRMT7 SMARCE1 PDGFRB DMD MAP3K7 SHANK3 KIF5A SLC9A6 GDI1 VCP FANCI FAM20A AP5Z1 ATL1 CEP152 RTN2 MFSD2A MAPT MLXIPL RAD21 KANSL1 COPB2 APRT DNMT1 CAPN1 PAX6 SPG7 HDAC8 ARSA SEC24C UPB1 SIX1 HPRT1 KRAS ARHGEF6 SP110 ATXN2 DLG3 SBF1 GBA2 ALDH18A1 SPART GTF2I HTRA1 ASXL1 B4GALNT1 COL1A2 ATXN3 FBLN5 ADH1C LMOD1 NRIP1 MYF6 RETREG1 SLC25A13 HPSE2 HPDL EP300 SEMA3E NFIA SACS COQ2 SLC20A2 SMARCB1 GATA3 BPTF GABRA1 TBL2 FXN MAP11 TRPV4 GABRA3 WNT4 GP1BB UPF3B TIMM50 SMC1A CCNQ ATP13A2 MNX1 SDHAF1 IQSEC2 CREBBP SDHA EYA1 LAMC2 COL3A1 SYNE1 HAAO FITM2 AVPR2 POLG2 TRIO BICC1 NBN LIMK1 GABRB3 AKT1 MORC2 MCPH1 SALL1 PEX3 KCNJ18 SIGMAR1 UBE2A AFF4 MTFMT TRPS1 COL18A1 COG7 CDKN1C NOTCH3 SLC44A1 BIN1 ROBO2 COL5A1 GBE1 PAX2 LRRK2 NPHP3 FUZ GBA DVL3 SMC3 EFEMP2 MARS2 DPH1 GJC2 PRDM8 TRAF7 CISD2 AIP TP63 ITGB4 TYROBP STUB1 NCAPG2 NR4A2 PIGA PAK3 CARMIL2 COMT PYCR2 COG5 PHC1 VANGL1 TBXT ALS2 CDC45 ASPM MECP2 BNC2 EHMT1 TWNK AUH CCL2 GJA1 PEX11B PSMD12 AGTR2 ZEB2 ABCD1 TTR CNKSR2 IGHMBP2 AQP2 SUFU POLR3A FLVCR1 MBTPS2 WASHC5 GRIP1 DSTYK IFT57 CACNA1S FMR1 HNRNPA1 MYCN PSAP CENPJ ATXN8OS PRNP LTBP4 HMBS RPL11 ZNF41 CFAP43 NF2 COL7A1 HACE1 CACNA1G ERCC8 CPT1C NSD1 SLC9A7 FA2H FRMPD4 KMT2C RALGAPA1 CXorf56 HLA-B ELN FGFR2 FLNA TAF13 SLC12A3 MMP1 PBX1 LAMA3 HNRNPK RAC2 SNCAIP SDHB FTSJ1 HCFC1 SETX ACTG2 SPOP PPOX HLA-DQB1 SPG11 HSPA9 STK11 WFS1 SQSTM1 ERCC6 HOXA13 MKS1 ALMS1 MTMR14 NIPA1 COL5A2 VPS35 PIGN CCND1 DNAJC13 UFD1 FOXF1 REEP2 DBH GLUD2 GABRG2 FUS STAT6 HEXB TNXB KCND3 GTF2IRD1 RPS6KA3 PDGFB COL1A1 LRIG2 RREB1 POR TRRAP RFC2 SPAST DARS2 RYR1 TBCK SNCA SMAD3 HIRA TGFB1 BAP1 PDCD1 SIX5 UBAP1 KNL1 JRK PINK1 ERLIN2 SASS6 DSE GPR101 LMNB1 ZMIZ1 KCNJ10 SETD5 FREM2 CLCNKB DKK1 FBXO7 USP9X C19orf12 SETD2 EIF4G1 DNM2 UMOD NOTCH2NLC MED12 VPS11 RARB ACSL4 MYH11 SOX17 CHST14 RERE JMJD1C HOGA1 CHD4 CEP135 IKZF1 SMO CHRM3 SH2B1 WDR62 TERT EIF2AK2 CEP63 NIPBL NCAPD3 MYOCD LAMB3 MYRF RASA1 ZNF81 CYP7B1 SDHD HLA-DRB1 PPP3CA KCNC3 RRM2B SYP REEP1 PANK2 DDHD2 RECQL4 JAG1 DDX6 MID2 PIGQ CACNA1H KIF14 ZFYVE26 STIL IGF2 PIGO CDK6 AGXT APC2 METTL5 ZNF711 SLC1A4 PLP1 ANKLE2 ZC4H2 CCBE1 NKX2-1 KMT2A ELOVL1 CLCN4 HSPD1 SLC2A1 ALG13 CIT POLG EXT1 TBCD GALNT2 TBP RNF168 PTCHD1 CHD7 ARVCF TSPAN7 RAB39B DACT1 ATXN1 CHRNA3 GALC PLEC ADNP ISL1 USP27X ARX SLC16A2 PLOD1 PIK3R5 GREB1L SLC5A2 BAZ1B HNRNPA2B1 GIGYF2 KCNQ1 KCNQ1OT1 VANGL2 HS6ST2 STRA6 CHMP2B FOXP1 CDK5RAP2 NAB2 HNRNPU DYSF KIF1A IL1RAPL1 WWOX MYLK ITGA6 FKBP14 PIK3CA STAMBP EBF3 PAH TRAPPC12 FARS2 ARNT2 MKKS SLC25A4 HP_BLADDER_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_DIVERTICULUM BAZ1B CLIP2 LIMK1 LTBP4 ELN TBL2 SALL4 ATP7A GTF2IRD1 GTF2I COL1A1 COL1A2 FBLN5 COL5A2 RFC2 COL3A1 COL5A1 TP63 FKBP14 MLXIPL PLOD1 EFEMP2 HP_URINARY_RETENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_RETENTION STAT6 NAB2 PRNP ALDH18A1 HMBS SP110 TGFB1 ERCC6 CACNA1S GABRA3 KCNJ18 LAMC2 BNC2 LAMA3 LAMB3 ERCC8 ACTG2 RASA1 ALMS1 APRT VANGL1 HP_NOCTURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURIA DBH POLG CLCNKB SLC12A3 POLG2 SLC25A4 TWNK RRM2B HP_URINARY_INCONTINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_INCONTINENCE GJC2 PRDM8 SPG11 TRAF7 TERT SQSTM1 EIF2AK2 SCN9A ARSA FUZ HPSE2 NEXMIF TIMM50 TYROBP STUB1 SMARCE1 PDGFRB DMD ZNF81 CYP7B1 ALDH18A1 ALMS1 KIF5A SLC9A6 GDI1 VCP HLA-DRB1 PAK3 GBA2 MTMR14 AP5Z1 NIPA1 COG5 PSAP RTN2 KCNC3 VANGL1 TBXT ALS2 SYP MECP2 BNC2 PANK2 DDHD2 GABRG2 DNMT1 FUS AUH MID2 CACNA1H CCL2 SPG7 ZFYVE26 HEXB PEX11B KCND3 ARHGEF6 SBF1 RPS6KA3 AGTR2 ZNF711 ZEB2 SLC1A4 HTRA1 PDGFB LRIG2 ABCD1 ZC4H2 CACNA1G TTR MYF6 RETREG1 CNKSR2 SPAST IGHMBP2 RYR1 SUFU FLVCR1 WASHC5 IFT57 BAP1 DLG3 COQ2 PDCD1 SLC20A2 SMARCB1 CLCN4 HSPD1 GABRA1 SLC2A1 ALG13 ATXN8OS HMBS JRK TBCD ZNF41 CFAP43 GALNT2 ATL1 TRPV4 NF2 HACE1 ATXN10 PTCHD1 UPF3B TSPAN7 RAB39B CPT1C CLCNKB ATP13A2 SLC9A7 TBP GALC DKK1 FA2H USP9X FRMPD4 IQSEC2 ADNP SACS USP27X GBE1 ARX SYNE1 FITM2 SLC16A2 CXorf56 TRIO FMR1 GABRB3 AKT1 C19orf12 MORC2 SLC12A3 DNM2 CAPN1 SIGMAR1 VANGL2 HS6ST2 NOTCH2NLC MED12 CHMP2B MNX1 ACSL4 NOTCH3 SLC44A1 IL1RAPL1 BIN1 FTSJ1 PIK3CA HCFC1 FARS2 SMO HLA-DQB1 HP_MEGACYSTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGACYSTIS ACTG2 NKX2-1 MYH11 AQP2 MYLK AVPR2 TP63 LMOD1 HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA RAD51D BMPR1A CCND1 SRCAP KLF6 PALB2 AMH CHEK2 DHX37 RNF43 HNF1B BRIP1 TP53 RAD51 EP300 CDKN2A RAD51C CDH1 HLA-DPA1 ADGRG2 PHF6 BTK CREBBP MXI1 BRCA1 NR5A1 CTLA4 STAT6 GREM1 ZFHX3 AR SOX9 DHH PSMB8 APC VHL HGD PTEN HLA-DPB1 RNASEL SRY PTPN22 CFTR NAB2 PRTN3 BRCA2 BARD1 AMHR2 MDM2 NBN EPHB2 MRE11 MAD1L1 NKX3-2 HNF4A UNG RAD50 HP_INGUINAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INGUINAL_HERNIA CLDN19 CLIP2 AMHR2 TBX3 PUF60 HES7 GLI3 GPHN AMH CTNND2 COL2A1 ELOVL4 ATP7A PTDSS1 AEBP1 WNT5A AGA FGFR1 TBX1 TGFBR2 DGCR6 PRKG1 FARSB ATP6V0A2 SH3PXD2B TMEM70 TTC37 FGD1 NAA10 COL5A2 SKI CCDC22 UFD1 ARID1B ASXL1 ELN ACTA2 SUZ12 MLXIPL COL1A2 COL1A1 CREBBP IDS SMAD4 DIS3L2 POLR2A KDM3B PIEZO2 GDF1 OCRL SEC24C ADAMTS2 NOTCH3 MEG3 GLRA1 RIC1 ATP6V1A GTF2IRD1 PLD1 HSPG2 DLK1 NEU1 GTF2I POGZ SETBP1 PIK3R1 SMAD3 ESS2 DSE FBLN5 ATAD1 RREB1 SLC26A2 SMCHD1 BRAT1 TRRAP RFC2 MYH11 PRDM5 WDR19 HIRA FIBP KIF7 NFIA RPS6KA3 NPHP3 TUBB AP1S2 ALDH18A1 FBN1 MYLK EZH2 GPC3 BCR BRF1 SRCAP TBL2 DGCR8 KDM5B BMPER TMEM67 AUTS2 RNF13 GPC4 WASHC5 INPP5E GLB1 MYH3 GP1BB MED12 ABCD4 COL3A1 DVL3 SLC2A10 SKIV2L SATB2 GUSB LIMK1 MFAP5 SHPK SETD2 LDHD P3H1 MBTPS2 CHST3 DVL1 OFD1 TGFB2 ROR2 MAF SPECC1L NOTCH2 COL5A1 CHST14 FZD2 IRX5 TP63 JMJD1C EFEMP2 SEMA5A CHRNG DPH1 PYCR1 RPGRIP1L PPP2CA PLOD2 CC2D2A MAT2A NIPBL GNPTAB NOTCH1 SIN3A CUL4B UBA1 TGDS NXN COMT EED FLNA MESP2 EHMT1 PORCN MED25 DDX6 GALNS PIGQ CRKL TMEM107 RTL1 SUFU B3GAT3 APC2 PIGS RPL10 FANCB CTCF FOXE3 MAPK1 RIPPLY2 CBS TGFB3 CLCN4 B3GLCT AR DGCR2 DLL3 IDUA LTBP4 HMGA2 MAN2B1 PHGDH PIGY ARX XRCC4 KCNQ1OT1 CDC42 PAFAH1B1 ODC1 H19 ARVCF ATRX IGF2 NSD1 FLI1 SERPINH1 KMT2C FLNB ADNP ISL1 TOR1A DYRK1A NALCN PLOD1 PPP2R1A BAZ1B TGFBR1 LOX TASP1 PLAG1 STRA6 GATA6 ZEB1 C1R SLC10A7 NAT8L C1S ATP6V1E1 WDR35 GNE CDKN1C LFNG FKBP14 KLHL7 YWHAE MAPRE2 MEIS2 FBXW11 ARSB PACS1 TMCO1 SEC31A HP_PROSTATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATITIS BTK PRTN3 HLA-DPB1 CTLA4 PTPN22 HGD HLA-DPA1 HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA NME8 CLIP2 DNAH17 RPGR WFS1 POLA1 SOHLH1 ERCC4 NR5A1 CATSPER1 RSPH4A NANOS1 HNF1B CCDC151 ZMYND15 ALMS1 DUSP6 BRCA1 ABCD1 DNAH2 SYCP2 DAZ1 RBMY1A1 CDH23 SLX4 ERCC6 TEX15 M1AP CCDC114 CTNS HFE FANCB CFAP298 OCRL NSMF AR SLC29A3 TSPY1 CCDC103 GBA GTF2IRD1 CFAP410 SPINK2 ZMYND10 GTF2I FANCM PRY2 CCNO RSPH9 PROKR2 DNAAF6 DAZ3 RFC2 PALB2 LRRC6 CNBP GAS2L2 ARMC2 ANK1 PMFBP1 STK36 SCP2 NEK10 XRCC2 CCDC65 TEX11 DNAAF4 DMRT3 SOX3 SUN5 CFAP69 WT1 LHB TBL2 RSPH1 BRCC3 GAS8 FANCI SYCP3 WDR11 DNAL1 GATA4 DNAH11 MEN1 DNAH9 CFAP58 TEX14 RAD51C BICC1 DDX3Y DNAI2 ERCC1 CEP112 LIMK1 GANAB ADGRG2 CATSPER2 DNAAF1 AIRE FANCE DNAH1 CHD7 TDRD9 TAF4B NNT CFAP70 MCM8 STEAP3 KLHL10 FOXJ1 KISS1R PKD2 OFD1 BLM RAD51 PROK2 MC2R DAZ4 SEMA3A CDY2A STRC DNAAF3 DNAAF5 SPAG1 SPRY4 CFAP300 CISD2 ATM DNAH5 EIF2S3 SRY VCY STAR NR0B1 GBA2 FGF8 FANCD2 RPS4Y2 CCDC40 LHCGR HYDIN SYCE1 FSHB DZIP1 ANAPC1 CFAP65 BRIP1 DAZ2 FGFR1 CEP19 LRRC56 NR3C1 SOX9 BRDT ZFPM2 CFAP221 CFTR SPEF2 DHX37 PRY DRC1 TAC3 BMP2 FGF17 DCAF17 ANOS1 TACR3 VAMP7 GNRHR FANCF DNAAF2 KDM5D PKD1 DMPK TTC12 HS6ST1 TTC25 MEIOB BRCA2 AIP ARMC4 TXNRD2 FANCC AURKC HJV DNAJB13 USP9Y DNAH8 BAZ1B MRAP ELN FANCL ANTXR1 UBE2T RFWD3 CDY1 ERCC8 MCIDAS FANCG HSFY1 FANCA GNRH1 DHH TTC29 MAD2L2 CCDC39 RSPH3 DNAI1 MAP3K1 KISS1 WWOX BPY2 POC1A HP_MALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_HYPOGONADISM SOX9 NSMF DMPK SPRY4 WFS1 CDH23 KISS1R POLA1 NR5A1 HS6ST1 CISD2 AIRE ERCC4 EIF2S3 CHD7 ANOS1 SRY PROKR2 WDR11 ERCC8 DUSP6 AIP ERCC6 MEN1 FGF8 GNRH1 DHH ABCD1 TAC3 FGF17 ANAPC1 NR0B1 PROK2 CTNS TACR3 KISS1 FGFR1 GNRHR ERCC1 FSHB SOX3 HP_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTORCHIDISM WDR35 KDM1A KDM6A CLIP2 AMHR2 CCDC174 NFIX WT1 UBR1 CYP11A1 ANOS1 SOX4 HES7 AMH NALCN YY1 EVC PEX5 WNT5A HESX1 GNRH1 ATRX PRMT7 SUZ12 BRCA1 FGFR1 ZFPM2 XPC DDB2 PROKR2 MTOR GPC6 IFT27 PEX6 PHACTR1 KANSL1 CREBBP CEP55 NEDD4L SOX10 IL17RD LIG4 CDH11 MAGEL2 TBC1D20 FEZF1 HDAC8 GLI3 SNRPN ROBO1 TINF2 GDF1 TSPYL1 NSD2 DHCR7 FANCM HYMAI LMOD1 CDT1 ACTL6A RNU4ATAC MYF6 SEC23A NDN ARX HPSE2 WDR37 KIF7 EP300 GLI1 B3GALNT2 OFD1 POU3F3 ALDH18A1 TMEM107 INPPL1 PDE4D BRF1 TBL2 DHODH DGCR8 SLC19A2 GPC3 ITGA7 PEX26 GFM2 XRCC2 SOS1 GP1BB WDR11 LMX1B NELFA MUSK TCF4 HERC2 DYNC2I2 MKS1 RAD51C BRAF FGF8 ACTB ORC1 ERCC1 VAC14 ERCC8 RAB3GAP2 LIMK1 GRIA3 MBTPS2 STS SMARCA2 PTPN11 NNT FTO CKAP2L PROK2 EXT2 GMNN SMS SPECC1L PAX7 ATAD3A ODC1 TMEM70 KISS1R NPAP1 EBP RAD51 DVL3 SMC3 SNORD116-1 CHD7 CHRNG PYCR1 MAMLD1 DCC POMK SIN3A SIX6 SEMA3A NR0B1 TMEM216 TGDS KMT2E FANCD2 COMT RLIM HRAS MKKS CDK8 POMT1 DLX4 MKRN3 SNORD115-1 WNT7A MADD FDFT1 POLD1 SMCHD1 RPL10 STT3A NAA10 PTCH1 DIS3L2 TCTN2 PIGS ALX4 SMARCD1 PEX10 RAB23 PEX2 RIT1 BBS9 MAP2K1 PAX6 DYNC2LI1 ZBTB20 TP63 B3GLCT PPP1CB GLI2 ERCC2 TACR3 EFNB1 NONO DLL3 GTF2H5 ZSWIM6 RBM10 NSUN2 RAB3GAP1 WNT3 MYL2 KCNQ1OT1 OCA2 HS6ST1 AEBP1 IFT172 SLC25A24 H19 NSD1 POMGNT1 TXNRD2 DVL1 NOTCH3 TBX1 FANCC KMT2D ATP6V1E1 PSMD12 ARID1A RRAS OPHN1 DLK1 GJB6 DAZ1 BMP4 PRKAR1A ZEB2 KAT6B ELN NPHP1 GATA4 STAG1 IFT80 DAG1 STRA6 OCRL HNRNPK NRAS SMARCC2 DPAGT1 SLC35D1 IGF2 ERCC4 PLVAP MECP2 MAD2L2 TBL1XR1 TTC8 EMG1 WDFY3 PPP1R12A MAP3K1 FRAS1 RERE RTL1 PEX11B FKTN COLEC10 KRAS DOK7 RNF113A NR5A1 PTDSS1 DGCR6 RRAS2 FZD2 FGF17 CD96 MTMR14 KMT5B MYT1L PIGN UFD1 FLNB MAPK1 SLX4 ERCC6 TRMT1 AXL ACTL6B RIPK4 ANKRD11 GJA5 PLAGL1 KDM3B BBS1 AR SOX9 ASH1L MED13 FAM149B1 GTF2IRD1 DNAJC21 ESS2 AKR1C2 DHDDS ESCO2 TRRAP RFC2 PALB2 ANK1 PDE6D CRPPA SEMA3E TUBB XYLT2 MAP2K2 EZH2 B9D1 ORC4 DYRK1A ATR ORC6 GPR161 HSD3B2 DDX6 KIAA0753 ZMIZ1 SMARCE1 KDM6B SOX2 ABCD4 CDH2 POLE MCTP2 EHMT1 SETD2 FANCE FBN1 SMAD4 NKX2-5 RARB RIN2 MAF KDM5C DDX3Y MYH11 GRIP1 GK CEP290 TPM2 TBX3 MRPS28 RYR1 JMJD1C CDCA7 CBL FXR1 UQCC2 PHIP FMR1 CYP19A1 ERCC3 FANCA LSS OTX2 TWIST1 UBA1 NDP LZTR1 TMEM231 CYP17A1 GATA6 DNAJC19 BCOR ARNT2 HYLS1 OGT PORCN DAZ2 ERCC5 CC2D2A SOX11 SVBP SUFU DUSP6 NKX2-6 TOE1 NIPBL FANCB POR CCBE1 SLC26A2 HACD1 PRDM16 LONP1 TFAP2A PEX16 CLCN4 TARS1 ADAT3 BLM FANCF SATB2 HMGA2 MYH3 TAF6 TPM3 MED13L ARVCF IER3IP1 DACT1 WDPCP CDKN1C TCOF1 FLI1 CDC6 ZBTB16 DAZ3 RPGRIP1L STAC3 BAZ1B CDC45 MRAP SLC18A3 FANCL PHF6 KCNQ1 SALL1 SDCCAG8 PIEZO2 EVC2 POLR1D MYLK LFNG POMGNT2 DKC1 TRAPPC4 FARS2 KLHL15 KISS1 ABL1 RAC3 POLA1 FBLN1 SCYL2 FGFR3 ARID2 LHX4 PHF8 SKI CHST14 RPGRIP1 ACTA1 GMPPB HIBCH LARGE1 BBS4 ANKLE2 CYP11B1 MAP3K20 FBXW11 CPLX1 SEC24C ATP6V1A GTF2I HBA2 RSPO2 PTCH2 AP1S2 DMRT3 SOS2 IRF6 SRCAP OTUD6B DOCK3 INSL3 AUTS2 LHX1 PEX13 ALKBH8 SMC1A DYNC2H1 GATA5 MAP3K7 SYNE1 COL3A1 SHOC2 POMT2 PWAR1 CDON C8orf37 C2CD3 RAB18 XRCC4 CNTNAP2 MTM1 MPLKIP NUP88 NTNG1 TCF20 UBE2A AFF4 NFIB BIN1 PEX3 NOTCH2 MRAS MC2R DAZ4 FUZ MBD5 PEX14 MEGF8 LMBR1 RECQL4 SPRY4 USP7 POLR1C DPF2 FGFR2 LETM1 DNMT3A TMEM94 COG5 POLR3A ALG8 EED MESP2 COL4A1 GPC4 CHRM3 TRIM32 BBIP1 CTCF DHX37 COLEC11 KCNAB2 TAC3 RIPPLY2 HBA1 ACTA2 STXBP1 FLT4 DGCR2 VAMP7 SRY GNRHR NSMF SOX3 KAT6A FGD1 SRA1 ALG12 BRWD3 STT3B MED12 USP9Y GALT NF1 GABRD FREM2 PBX1 FLNA FKRP COG1 NDNF UBE2T MCM5 RAPSN ADARB1 RAF1 GJB2 TCTN3 RAD21 MEG3 SMARCB1 ACTG2 PIK3C2A PACS1 RNF135 LZTFL1 PPP1R15B CEP120 ATP6V0A2 RASA2 MYMK HSD17B3 ARID1B MAPRE2 RBMY1A1 MID1 RXYLT1 SGPL1 TSPY1 B4GALT7 GTF2E2 BBS10 LRIG2 VPS13B RREB1 TBCE TANC2 CPLANE1 CCDC22 TBCK SETD5 HIRA GSC PEX1 NKAP KDM5B JAM3 NRXN1 A2ML1 FANCI TRIP4 DSE ATN1 PACS2 SIM1 SMARCA4 BDNF CYB5A FAT4 GLE1 XPA THOC2 ANAPC1 MYOD1 BBS7 DNM2 AKR1C4 SELENON PHGDH ROR2 MASP1 SMOC1 IRX5 GRIA2 TBX22 CCDC141 CHD4 JAG1 VANGL1 RAC1 HNF1B CEP152 ARL6 PEX12 MYRF STAR ATPAF2 PNPLA6 NXN PEX19 CUL4B VPS35L BRIP1 CILK1 SAMD9 BUB1B LAS1L FIG4 APC2 SRD5A2 BBS5 B9D2 KMT2A DYNC2I1 CLP1 HSPG2 BBS12 EIF2S3 HUWE1 CDC42 CTBP1 BPTF BRCA2 PWRN1 HOXD13 FGFRL1 G6PC3 TMEM67 ADNP CSPP1 BCORL1 FLRT3 GATA1 TASP1 PLAG1 RFWD3 FANCG RTTN EBF3 B4GAT1 RORA CITED2 BBS2 WWOX HP_TESTICULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_ATROPHY AR SMS WFS1 DMPK BMP2 HPRT1 TP53 POLG HFE ANOS1 NHP2 TEX11 FSHB HP_AMBIGUOUS_GENITALIA_MALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_MALE CYP17A1 CYP11A1 HSD3B2 SRD5A2 TBX15 CYB5A TSPYL1 SC5D WT1 DHCR24 MKS1 SRY POR HP_HYDROCELE_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCELE_TESTIS AKT1 MECOM SLC25A10 SOX18 PEX11B PIGN SETD2 ATAD3A VEGFC APC2 GJC2 ZEB2 CREBBP PIEZO1 PTEN NSD1 FLT4 PIK3CA EP300 SETD1A EZH2 ADAMTS3 HP_ABNORMAL_TESTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TESTIS_MORPHOLOGY WDR35 RHO KDM1A KDM6A CLIP2 AMHR2 CCDC174 NFIX WT1 UBR1 CYP11A1 ANOS1 SOX4 HES7 AMH NALCN YY1 EVC PEX5 WNT5A AGA HESX1 GNRH1 ATRX PRMT7 SUZ12 MAP3K7 BRCA1 FGFR1 ZFPM2 XPC DDB2 RTEL1 PROKR2 MTOR GPC6 IFT27 THOC2 TEX15 FMR1 PEX6 PHACTR1 KANSL1 CREBBP CEP55 NEDD4L SAG SOX10 IL17RD STAT4 LIG4 CDH11 MAGEL2 AKT1 SLC25A10 TBC1D20 FEZF1 HDAC8 IFT140 GLI3 SNRPN ROBO1 SLC29A3 IL23R TINF2 GDF1 DHH TSPYL1 NSD2 DHCR7 FANCM HYMAI LMOD1 CDT1 ACTL6A RNU4ATAC MYF6 SEC23A MECP2 C8orf37 NDN ARX HPSE2 WDR37 KIF7 EP300 GLI1 B3GALNT2 OFD1 POU3F3 ALDH18A1 RP1 TMEM107 INPPL1 MECOM PDE4D BRF1 LHB TBL2 DHODH LHX4 DGCR8 RBMX BRCC3 SLC19A2 AHI1 PROP1 XRCC2 FAM111A GPC3 ITGA7 PEX26 GFM2 SOS1 GP1BB WDR11 LMX1B NELFA MUSK TCF4 HERC2 DYNC2I2 UBAC2 MKS1 RAD51C FLT4 BRAF FGF8 ACTB ORC1 ERCC1 VAC14 ERCC8 RAB3GAP2 LIMK1 CDKN1C ZNF513 GRIA3 MBTPS2 STS PCARE SMARCA2 PTPN11 NNT DCAF17 FTO CKAP2L GLI2 PROK2 EXT2 GMNN SMS SPECC1L PAX7 ATAD3A HUWE1 ODC1 EWSR1 TMEM70 SOX18 KISS1R NPAP1 C4A EBP RAD51 DMPK DVL3 SMC3 DKC1 SNORD116-1 CHD7 CHRNG PYCR1 WRN NR5A1 MAMLD1 DHX37 DCC POMK HSPG2 NEK2 SIN3A SIX6 SEMA3A NR0B1 GBA2 CDC73 TMEM216 TGDS KMT2E FANCD2 COMT RLIM HRAS MKKS IFT88 CDK8 POMT1 DLX4 MKRN3 SNORD115-1 WNT7A MADD CCR1 FDFT1 POLD1 SMCHD1 RPL10 RGR STT3A NAA10 PTCH1 PEX11B IMPDH1 DIS3L2 TCTN2 IFT172 PIGS ALX4 SMARCD1 PQBP1 PEX10 RAB23 PEX2 RIT1 BBS9 B4GAT1 MAP2K1 PAX6 DYNC2LI1 ZBTB20 TP63 B3GLCT PPP1CB ERCC2 TACR3 EFNB1 NONO IL1RAPL1 DLL3 GTF2H5 ZSWIM6 RBM10 NSUN2 ERAP1 RAB3GAP1 WNT3 MYL2 KCNQ1OT1 OCA2 HS6ST1 AEBP1 USH2A SLC25A24 H19 PTEN NDUFB11 AGBL5 NSD1 POMGNT1 ARHGEF18 CLIC2 TXNRD2 DVL1 NOTCH3 TBX1 FANCC TNFRSF1A KMT2D ATP6V1E1 PSMD12 ARID1A RRAS OPHN1 DLK1 GJB6 DAZ1 BMP4 PRKAR1A ZEB2 MEFV KAT6B ELN NPHP1 HLA-B GATA4 STAG1 IFT80 DAG1 NOP10 STRA6 OCRL CUL7 HNRNPK NRAS SMARCC2 SOX9 DPAGT1 SLC35D1 RBP3 IGF2 CA4 ERCC4 HCCS PLVAP MAD2L2 TBL1XR1 TTC8 EMG1 WDFY3 PPP1R12A MAP3K1 FRAS1 RERE RTL1 FKTN STK11 COLEC10 SLC7A14 KRAS DOK7 RNF113A PTDSS1 SNRNP200 TOPORS DGCR6 RRAS2 FZD2 FGF17 CD96 CDKN1B MTMR14 SEMA4A KMT5B MYT1L PIGN UFD1 LHCGR IDH3A FLNB MAPK1 SLX4 ERCC6 TRMT1 AXL ACTL6B RIPK4 ANKRD11 PIK3CA GJA5 PLAGL1 KDM3B BBS1 AR GNAS CYP11B1 BBS2 ASH1L MED13 FAS FAM149B1 GTF2IRD1 DNAJC21 ESS2 AKR1C2 DHDDS ESCO2 PDE6A TRRAP RFC2 PALB2 TP53 ANK1 PDE6D CRPPA SEMA3E TUBB XYLT2 TEX11 MAP2K2 EZH2 B9D1 ORC4 DYRK1A SOX3 KLHL7 ATR ORC6 GPR161 KCNJ6 HSD3B2 LRAT DDX6 KIAA0753 POLG ZMIZ1 SMARCE1 KDM6B SOX2 ABCD4 CDH2 POLE MCTP2 EHMT1 DICER1 SETD2 FANCE FBN1 SMAD4 NKX2-5 RARB KDSR RIN2 MAF KDM5C DDX3Y MYH11 IL12A-AS1 GRIP1 GK CEP290 TPM2 TBX3 MRPS28 RYR1 JMJD1C CDCA7 CBL AHR MAK FXR1 UQCC2 PHIP CYP19A1 ERCC3 FANCA LSS OTX2 TWIST1 UBA1 NDP CUL4B LZTR1 TMEM231 CYP17A1 GATA6 DNAJC19 BCOR ARNT2 HYLS1 FSHB OGT PORCN DAZ2 USB1 ERCC5 CC2D2A SOX11 DHX38 SVBP SUFU HPRT1 DUSP6 NKX2-6 TOE1 CCDC28B NIPBL FANCB POR CCBE1 SLC26A2 RLBP1 CNGA1 HACD1 NR2E3 PRDM16 LONP1 TFAP2A PEX16 CLCN4 TARS1 ADAT3 BLM FANCF SATB2 REEP6 HMGA2 GJA1 MYH3 TAF6 TPM3 COX7B MED13L NF1 IDH3B ARVCF IER3IP1 DACT1 NHP2 WDPCP BEST1 ATM TCOF1 FLI1 PRPF31 CDC6 ZBTB16 DAZ3 RPGRIP1L STAC3 MERTK ADAMTS3 BAZ1B CDC45 MRAP SLC18A3 KLRC4 LMNA ROM1 FANCL PHF6 KCNQ1 SALL1 SDCCAG8 PIEZO2 PRPF8 EVC2 POLR1D MYLK LFNG POMGNT2 TRAPPC4 FARS2 KLHL15 KISS1 ABL1 RAC3 POLA1 FBLN1 VEGFC MED12 NANOS1 SCYL2 FGFR3 EYS ARID2 PHF8 SKI CHST14 RP2 RPGRIP1 ACTA1 RPGR PRPF4 PDE6B GMPPB HIBCH LARGE1 BBS4 ANKLE2 HFE MAP3K20 FBXW11 CPLX1 SEC24C NRL ATP6V1A GTF2I HBA2 RSPO2 PTCH2 AP1S2 DMRT3 ARL2BP SOS2 IRF6 SRCAP OTUD6B DOCK3 INSL3 AUTS2 CLRN1 LHX1 PEX13 ALKBH8 SMC1A DYNC2H1 GATA5 SYNE1 UPF3B COL3A1 SHOC2 POMT2 PWAR1 CDON C2CD3 RAB18 XRCC4 CNTNAP2 MTM1 MPLKIP NUP88 GJC2 NTNG1 TCF20 IL12A TDRD9 UBE2A AFF4 NFIB RP9 CTC1 ARL6 MCM8 BIN1 PEX3 NOTCH2 MRAS FSCN2 MC2R DAZ4 FUZ MBD5 PEX14 MEGF8 LMBR1 RECQL4 SPRY4 USP7 POLR1C KIAA1549 DPF2 CDKN2A TERC SRY FGFR2 PMM2 CERKL LETM1 DNMT3A TMEM94 COG5 POLR3A ALG8 EED MESP2 COL4A1 GPC4 CHRM3 GDF6 TRIM32 BBIP1 PIEZO1 CBX2 PHGDH CTCF COLEC11 KCNAB2 TAC3 RIPPLY2 HBA1 ACTA2 LEP STXBP1 DGCR2 VAMP7 GNRHR GJB3 NSMF KEAP1 NPM1 KAT6A FGD1 SRA1 SOHLH1 MEIOB ALG12 RPE65 BRWD3 STT3B CDHR1 GJB4 USP9Y GALT ZDHHC9 GABRD FOXA2 FREM2 PBX1 ZNF408 FLNA HGSNAT FKRP COG1 NDNF UBE2T SYCE1 MCM5 RAPSN ADARB1 RAF1 GJB2 TCTN3 RAD21 MEG3 ABCA4 SMARCB1 ACTG2 PIK3C2A PACS1 RNF135 RSPO1 WFS1 LZTFL1 PPP1R15B ZMYND15 CEP120 ALMS1 ATP6V0A2 RASA2 MYMK HSD17B3 ARID1B MAPRE2 CNGB1 RBMY1A1 MID1 POU1F1 RXYLT1 SGPL1 TERT TSPY1 B4GALT7 GTF2E2 IL10 BBS10 SCAPER LRIG2 VPS13B RREB1 TBCE TANC2 CPLANE1 CCDC22 KIZ TBCK SETD5 RP1L1 HIRA GSC PEX1 NKAP KDM5B JAM3 NRXN1 A2ML1 FANCI TRIP4 SYCP3 DSE ATN1 CRX PACS2 SIM1 SMARCA4 BDNF CYB5A FAT4 PROM1 GLE1 XPA ANAPC1 MYOD1 BBS7 DNM2 AKR1C4 SELENON IMPG2 ROR2 MASP1 WRAP53 SMOC1 MDM2 KLHL10 IRX5 GRIA2 TBX22 CCDC141 CHD4 PDE6G JAG1 VANGL1 CRB1 CTDP1 RAC1 HNF1B CEP152 PEX12 MYRF STAR SPATA7 PRPF3 PRCD ATPAF2 PNPLA6 NXN PEX19 RDH12 VPS35L BRIP1 CILK1 TULP1 SAMD9 BUB1B LAS1L FIG4 SLC39A4 APC2 DMXL2 TAF4B SRD5A2 BBS5 B9D2 KMT2A PARN BMP2 DYNC2I1 CLP1 PRPH2 BBS12 EIF2S3 TLR4 ARL3 GUCA1B DMRT1 CDC42 CTBP1 BPTF BRCA2 PWRN1 HOXD13 TUB FGFRL1 G6PC3 TMEM67 FAM161A SETD1A ADNP PRPF6 CSPP1 CHEK2 BCORL1 FLRT3 GATA1 TASP1 PLAG1 CFTR RFWD3 FANCG RTTN TEX14 LEPR EBF3 RORA CITED2 WWOX HP_ABNORMAL_PENIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PENIS_MORPHOLOGY WDR35 RHO KDM1A KDM6A CLIP2 WT1 UBR1 CYP11A1 ANOS1 CDH11 HES7 EVC WNT5A HESX1 GNRH1 ATRX KCNH1 BRCA1 SIX3 KCNA1 RTEL1 CCDC22 PROKR2 IFT27 THOC2 PSPH PEX6 ARCN1 KANSL1 PIGQ SAG IL17RD LIG4 SIK1 MAGEL2 SLC25A10 TBC1D20 FEZF1 HDAC8 IFT140 GLI3 RAC1 DISP1 ROBO1 SLC29A3 KIFBP TSPYL1 NSD2 DHCR7 FANCM ADA2 THOC6 RNU4ATAC C8orf37 KIAA0586 ARX NODAL KIF7 EP300 GLI1 B3GALNT2 RP1 ROR2 FGF10 LHB TBL2 DHODH AHI1 GPC3 PEX5 PEX26 XRCC2 GP1BB WDR11 GAS1 LMX1B SETD5 NELFA TCF4 HERC2 FLNA DYNC2I2 AKT1 CARS1 FGF8 ACTB ORC1 VAC14 ERCC8 MAP3K1 RAB3GAP2 LIMK1 TP63 ZNF513 GRIA3 SCN1B CCDC8 PCARE PTPN11 DCAF17 PROK2 SMS SPECC1L PITX2 TMEM70 KISS1R NPAP1 RPS15A RAD51 DVL3 SMC3 DKC1 SNORD116-1 CHRNG SHH CENPT MAMLD1 DCC AIP POMK NEK2 SIN3A BBS5 SIX6 SEMA3A TTC37 PIGA FANCD2 COMT RLIM DYNC2H1 MKKS IFT88 POMT1 MKRN3 SNORD115-1 WNT7A MADD RPL11 RPS19 FDFT1 MED25 SMCHD1 RPL10 RGR STT3A IMPDH1 IFT172 SYNGAP1 ZFPM2 DLL1 PQBP1 PEX10 TWIST2 BBS9 RPS10 B4GAT1 PAX6 DYNC2LI1 B3GLCT GLI2 NR0B1 BRAF TACR3 EFNB1 DLL3 NSUN2 RAB3GAP1 HS6ST1 USH2A SLC25A24 NDUFB11 OBSL1 AGBL5 NSD1 POMGNT1 ARHGEF18 DVL1 RPS28 FANCC KMT2D NDN OPHN1 BMP4 PRKAR1A ZEB2 SDHB RNF113A ELN NPHP1 GATA4 IFT80 DAG1 NOP10 CUL7 EPG5 DCHS1 RPL5 RBP3 IGF2 CA4 HCCS MECP2 MAD2L2 TBL1XR1 TTC8 PPP1R12A FRAS1 RERE SNRPN PEX11B FKTN INSR SLC7A14 TBX3 NR5A1 PTDSS1 SNRNP200 HOXA13 TOPORS FZD2 FGF17 SEMA4A PIGN UFD1 B9D2 IDH3A SLX4 SUZ12 SEC23B AXL SRCAP DIS3L2 KDM3B BBS1 CYP11B1 FOXC1 AR SOX9 BBS2 ACTA1 INTU GTF2IRD1 RPL35A DHDDS NAA10 PDE4D ESCO2 PDE6A TRRAP KLLN RPL15 RFC2 PALB2 ANK1 CYP21A2 CRPPA SEMA3E TUBB INPP5E ORC4 DYRK1A ERCC2 KLHL7 ADAR ATR ORC6 GPR161 HSD3B2 LRAT WASHC5 PRKDC ZMIZ1 GATA1 DSP SDHD GHR SOX2 DCX CDH2 POLE MCTP2 EZH2 EHMT1 SETD2 FANCE SMAD4 NEUROD2 FGFR3 GRIP1 CTU2 RYR1 JMJD1C CDCA7 AHR MAK RPL27 ZIC2 DHX37 LSS OTX2 UBA1 MAB21L2 CUL4B CYP17A1 DNAJC19 BCOR ARNT2 OGT TRIM8 USB1 MYMK DHX38 SUFU DUSP6 TOE1 TREX1 CCDC28B NIPBL HERC1 ARL6IP6 POR PIEZO2 RLBP1 CNGA1 NKX2-1 NR2E3 PRDM16 RPS7 TFAP2A PEX16 SDHC ADAT3 FANCF SATB2 TINF2 REEP6 HMGA2 COX7B RNASEH2A IDH3B CHD7 ARVCF DACT1 SOX10 BEST1 CDKN1C PRPF31 CDC6 ISL1 ZBTB16 CASK AFF4 MERTK CSPP1 BAZ1B CDC45 PUF60 ZMPSTE24 ROM1 FANCL PHF6 SALL1 SDCCAG8 PRPF8 EVC2 POLR1D LFNG POMGNT2 GATAD2B KLHL15 KISS1 ABL1 RNASEH2B TBX1 KIAA1109 EYS LMNA LHX4 TSR2 SAMHD1 RP2 RPGR PRPF4 PDE6B GMPPB MLXIPL LARGE1 RSPO2 FGFR1 ALX4 CPLX1 PEX2 SEC24C NRL KRAS ATP6V1A GTF2I SETBP1 USF3 HBA2 TBX22 DMRT3 ARL2BP WNT4 CLRN1 SLC25A22 PEX13 ALKBH8 SMC1A RBBP8 MNX1 CREBBP POMT2 PWAR1 CDON C2CD3 RAB18 XRCC4 PNPLA6 CDT1 UBE2A FAM111A RP9 CTC1 PTCH1 ARL6 RNASEH2C PEX3 NOTCH2 FSCN2 CDKL5 MBD5 IFIH1 PEX14 SPRY4 USP7 FGFR2 PCNT POLR1C EIF2S3 KIAA1549 TERC CERKL LETM1 TMEM94 COG5 LHCGR POLR3A EED MESP2 COL4A1 GPC4 SSR4 TRIM32 ERMARD BBIP1 COLEC10 SC5D SCN2A ATP6AP2 CTCF COLEC11 PSMD12 KCNAB2 TAC3 RIPPLY2 HBA1 DMXL2 KATNIP SMO ERCC4 LEP STXBP1 VAMP7 SRY GNRHR NSMF GNAO1 NPM1 SOX3 FERMT1 SRA1 CDC42 PAFAH1B1 RPS24 ALG12 RPE65 KAT6B KLHL40 STT3B CDHR1 RPL18 MTOR GABRD FREM2 PBX1 NEB ZNF408 HGSNAT FKRP COG1 NDNF UBE2T PHF21A RAF1 CLMP YWHAE RAD21 ABCA4 RSPO1 MTM1 WDPCP LZTFL1 HNF1B ALMS1 ARID1B MAPRE2 CNGB1 MID1 RXYLT1 SGPL1 CYB5A PIK3CA TERT FANCB MEGF8 HYLS1 BBS10 SCAPER RREB1 PTEN TBCE RPL35 KIZ RP1L1 RPL31 HIRA PEX1 PNKP KDM5C TGIF1 KDM5B ERCC6 FANCI GPR101 CRX MED12 RPL26 SIM1 BDNF MED12L RAD51C TMEM63A LMOD3 FAT4 SKI PROM1 BBS7 MYH3 IMPG2 OFD1 COL3A1 WRAP53 NHP2 KLHL41 CCDC141 CHD4 STAR GMNN PDE6G CRB1 TAPT1 PEX12 MYRF SPATA7 PRPF3 PRCD ATPAF2 NXN PIGP PEX19 RPS17 RDH12 BRIP1 CILK1 CEP290 DDX6 TULP1 SAMD9 BUB1B LAS1L FIG4 APC2 SRD5A2 FBXL4 KMT2A PARN BBS4 EXT2 DYNC2I1 PRPH2 BBS12 PRRX1 ATAD3A ARL3 HUWE1 GUCA1B NEK1 CTBP1 BRCA2 PWRN1 HOXD13 TUB FGFRL1 CHRNA3 MKS1 RPS26 FAM161A PRPF6 TDGF1 RPS29 TCOF1 FLRT3 CEP41 PLAG1 FOXH1 RFWD3 FANCG RTTN FANCA RPS27 EBF3 HNF4A WWOX ECE1 HP_MALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_PSEUDOHERMAPHRODITISM TMEM107 AMHR2 CYP11A1 HHAT HSD3B2 COX7B DHX37 WT1 TMEM216 DMRT1 NDUFB11 SRY WDPCP TMEM231 NR0B1 CYP17A1 MNX1 TMEM67 RPGRIP1 AMH HSD17B3 MKS1 CYB5A RPGRIP1L CSPP1 CEP55 MAP3K1 CC2D2A AR TCTN2 ATRX DHH AKR1C4 CBX2 AKR1C2 SOX9 POR B9D2 NR5A1 HCCS CEP290 B9D1 HP_EPISPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISPADIAS C2CD3 CDC45 KRAS COX7B EVC PTDSS1 SMAD4 DVL1 CDT1 EVC2 WNT5A NDUFB11 PIEZO2 CDC6 ORC1 HCCS DYNC2LI1 FZD2 TP63 ORC6 ISL1 GLI1 DVL3 SRY ORC4 GMNN HP_LONG_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PENIS INSR FGFR1 ESCO2 CYP11B1 LHCGR POLR3A AIP GPR101 KCNH1 AKT1 PTEN HP_CHORDEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORDEE MAP3K1 PTDSS1 POR KDM1A HCCS COX7B HOXA13 CARS1 DYRK1A ZEB2 PPP1R12A NDUFB11 FGFR1 SRY HP_HYPOGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADOTROPIC_HYPOGONADISM CLIP2 ANOS1 PROP1 GNRH1 SMARCE1 REV3L RRAS2 DUSP6 NRAS RASA2 FGF17 DNAL4 HSD17B3 PROKR2 CDH23 MT-ND1 POLR3A POU1F1 HFE AXL IL17RD FEZF1 MAGEL2 RAB3GAP2 DCC NSMF CTNNB1 SNRPN WT1 DHH GTF2IRD1 GTF2I NTN1 SMCHD1 NR5A1 NDN MT-CO1 RFC2 FGFR1 RBM28 ANK1 PTCH2 BAP1 SEMA3E MT-TS2 SRY RAB3GAP1 SMARCB1 SOS2 TYMP PNPLA6 LHB TBL2 LHX4 MT-ND5 A2ML1 GPR101 SOS1 RAF1 WDR11 PDGFB HESX1 NR0B1 CHD7 MEN1 SIM1 SOX2 HERC2 MT-ND6 HDAC8 FGF8 SUFU PWAR1 LIMK1 AKT1 POLR3B MT-TL1 GJB2 DCAF17 MT-TH POLG GLI2 PROK2 MRAS HS6ST1 KISS1R NPAP1 CBL CCDC141 TAC3 SNORD116-1 SMO CTDP1 TRAF7 TERT SPRY4 DHX37 AIP PMM2 TACR3 SIX6 SEMA3A MKRN3 SNORD115-1 KISS1 GNRHR MT-TF MAP3K1 PCSK1 PTCH1 PTPN11 LAS1L MT-CO3 DMXL2 CBX2 MT-TQ BMP2 OCA2 KRAS TP63 FSHB PLXND1 RNF216 NF2 SRA1 DMRT1 RAD51 PWRN1 SOX10 RNU4ATAC HJV RRM2B RRAS SOX3 BAZ1B ELN FLRT3 FOXA2 MT-TW RIT1 BRAF NDNF LZTR1 SOX9 MT-ND4 PIK3CA OTX2 TFR2 MT-CO2 HP_ABNORMALITY_OF_THE_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SCROTUM MTM1 ATRX TBX3 GLI3 HNF1B MAMLD1 NR5A1 POLR1C KIAA1109 MYRF FARSB FGFR2 FZD2 FGD1 KMT2E MYT1L MAPRE2 MKRN3 SNORD115-1 WNT7A TRMT1 ACTL6B ARCN1 CYB5A CILK1 MAGEL2 CDH11 ACTB AKT1 FBXW11 TBC1D20 STT3A SAMD9 NDN UPB1 BUB1B SVBP AR SOX9 SNRPN MEGF8 MED13 ZEB2 COLEC10 TOE1 NEXMIF ZFPM2 SRY KIFBP DHCR7 ALX4 SRD5A2 POR ACTL6A DHX37 TANC2 TRRAP PSMD12 IRF6 OCA2 GRIP1 SEMA3E STXBP1 NR0B1 HSD3B2 TUBB EFNB1 VAMP7 DMRT3 ERCC2 WT1 ORC6 SRCAP HMGA2 DOCK3 DDX6 TSPYL1 RLIM HOXA13 LHX1 EP300 BPTF CHD7 SPECC1L SLC25A24 PTEN FLI1 ALG12 IER3IP1 DACT1 PWRN1 HOXD13 LMX1B KAT6B GATA4 SIM1 MNX1 HERC2 CREBBP STT3B PTRH2 DYRK1A RAB3GAP2 FAT4 MED12 ORC1 OPHN1 PWAR1 BMP4 TBX4 SETBP1 TCOF1 BCORL1 NECTIN1 FREM2 SALL1 PHF6 PNPLA6 PLAG1 NTNG1 TCF20 MYH3 TWIST2 POLR1D IGF2 CDKN1C NPAP1 RYR1 WDFY3 MAP3K1 ZMIZ1 TRAPPC4 FRAS1 SNORD116-1 MAB21L1 TMCO1 WWOX RAB18 CHRNG HP_SCROTAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCROTAL_HYPOPLASIA IRF6 ORC6 GLI3 TSPYL1 POLR1C ATRX OCA2 KIAA1109 SLC25A24 ALG12 IER3IP1 PWRN1 LMX1B KAT6B SIM1 SNRPN HERC2 MAPRE2 MKRN3 SNORD115-1 WNT7A STT3B RAB3GAP2 NDN ARCN1 MED12 NR5A1 CILK1 OPHN1 PWAR1 MAGEL2 SETBP1 TCOF1 NECTIN1 TBC1D20 STT3A SOX9 FREM2 PHF6 PNPLA6 MYH3 DHCR7 ALX4 SRD5A2 SRY POLR1D POR TRRAP GRIP1 NPAP1 RYR1 STXBP1 TUBB FRAS1 SNORD116-1 RAB18 CHRNG ERCC2 HP_BIFID_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_SCROTUM MTM1 IRF6 FGFR2 UPB1 HMGA2 BUB1B AR SOX9 HSD3B2 MAMLD1 SALL1 HOXA13 ZEB2 COLEC10 PLAG1 KIFBP DHCR7 MYRF SRD5A2 CHD7 SRY DACT1 HOXD13 POR FZD2 IGF2 SPECC1L CDKN1C MNX1 SEMA3E FAT4 NR5A1 CYB5A BMP4 CDH11 HP_SHAWL_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHAWL_SCROTUM FGD1 EFNB1 PSMD12 SAMD9 SPECC1L TBX3 PTRH2 HNF1B MEGF8 ATRX CREBBP NEXMIF DYRK1A LHX1 EP300 ORC1 TMCO1 TWIST2 TBX4 HP_PERINEAL_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERINEAL_HYPOSPADIAS AR SRD5A2 DNAJC19 HSD3B2 GATA4 POR HP_MACROORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROORCHIDISM MECP2 GNAS RBMX CLIC2 HUWE1 LHCGR FMR1 CYP19A1 MED12 NF1 UPF3B AGA ARX AKT1 IL1RAPL1 PTEN ZDHHC9 HP_MICROPENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPENIS RNASEH2B MTM1 KDM6A UBR1 TBX3 ANOS1 NDNF CDH11 GLI3 TCF4 NR5A1 C2CD3 WNT5A GNRH1 ATRX KIAA1109 KIAA0586 ALMS1 GATA4 DUSP6 FGF17 SAMHD1 KCNA1 PROKR2 B9D2 THOC2 GMPPB MLXIPL RSPO2 ARX AXL ARCN1 PIGQ SGPL1 CYB5A IL17RD FEZF1 SIK1 MAGEL2 ALX4 PIEZO2 TBC1D20 NSMF AR SLC29A3 MEGF8 CDKN1C COX7B ACTA1 INTU ATP6V1A DHCR7 SETBP1 NDUFB11 DHDDS THOC6 SMCHD1 RNU4ATAC POR FGFR1 SEMA3E PNKP INPP5E DMRT3 FRAS1 LIG4 DYRK1A ERCC2 KDM5C ROR2 ADAR WT1 LHB ORC6 DHODH RAB3GAP2 ERCC6 FZD2 PRKDC SLC25A22 WDR11 ALKBH8 LMX1B HESX1 PHF6 CHD7 SIM1 SOX2 HERC2 KMT2D DCX FANCL CDH2 LMOD3 FAT4 FGF8 ACTB MCTP2 ORC1 PWAR1 VAC14 DVL1 ERCC8 EHMT1 TP63 GRIA3 PNPLA6 SCN1B PTPN11 NEUROD2 DCAF17 UBE2A FAM111A OFD1 PROK2 ARL6 RNASEH2C CTU2 HS6ST1 KISS1R NPAP1 RYR1 KLHL41 CCDC141 CDKL5 SEMA3A CHD4 DVL3 KIF7 SNORD116-1 IFIH1 POMT2 TAPT1 CENPT HCCS SPRY4 USP7 MAMLD1 DCC EIF2S3 MYRF LSS OTX2 SIN3A BBS5 TACR3 SIX6 PIGA UBA1 CYP17A1 COG5 RLIM DYNC2H1 PIGP POMT1 MKRN3 SNORD115-1 MADD CUL4B CDC45 GNRHR BBS1 TRIM8 CILK1 LARGE1 DDX6 STT3A BUB1B LAS1L FIG4 COLEC10 TOE1 ZFPM2 SRY TREX1 ZEB2 CCDC28B SCN2A HERC1 DHX37 B4GAT1 PSMD12 TAC3 POLE DMXL2 KATNIP SMO GLI2 LEP STXBP1 EXT2 NR0B1 HSD3B2 VAMP7 ADAT3 TBCE GNAO1 SATB2 ATAD3A SOX9 HOXA13 XRCC4 RNASEH2A HUWE1 SRA1 HDAC8 NEK1 SLC25A24 ALG12 PWRN1 SOX10 KAT6B KLHL40 CDC6 STT3B ELN ZBTB16 CASK NDN OPHN1 BMP4 RNF113A FLRT3 FANCD2 PBX1 NEB CEP41 PHF21A SRD5A2 TBL1XR1 PPP1R12A EBF3 MAP3K1 KLHL15 KISS1 FKRP WWOX SNRPN RAB18 ECE1 HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA RSPO1 PEX11B INSR UBR1 CYP11A1 PPARG RAC3 FDXR NR5A1 PEX5 WNT5A TALDO1 MKS1 CD96 TWIST2 BSCL2 PEX6 CYP11B1 ZFPM2 RIPK4 MAGEL2 LIG4 PLAGL1 PEX2 HDAC8 TNXB SNRPN COX7B TBX15 NDUFB11 HYMAI SMCHD1 POR ESCO2 NDN SEMA3E PEX1 DMRT3 FRAS1 PRKAR1A ORC4 LIPE IRF6 B3GLCT ATR PDE4D WT1 ORC6 TP63 HSD3B2 PEX26 SPECC1L PEX13 SMC1A CCNQ GATA4 SETD5 CDC6 CHD7 SIM1 HERC2 DVL3 CYP19A1 SKI ORC1 DHCR24 PWAR1 SETBP1 VAC14 MAP3K1 RAB18 RAB3GAP2 GAD1 MYH3 CAVIN1 DVL1 CDT1 ATIC ROR2 GMNN LMNA GRIP1 PEX3 DHCR7 FZD2 NPAP1 ECEL1 SMC3 SNORD116-1 PEX14 CHRNG TBC1D20 HCCS CEP152 NIPBL PEX12 PMM2 NXN PEX19 MKRN3 SNORD115-1 PCNT CDC45 PORCN ACTB NR3C1 CAV1 FIG4 TOE1 SRY FGFR2 PEX10 CTCF DHX37 KCNAB2 PRDM16 KMT2A OCA2 TRAIP PEX16 NR0B1 AGPAT2 VAMP7 UBE3B NSUN2 RAB3GAP1 SOX9 CXCR4 SLC25A24 PWRN1 KAT6B AR ISL1 FOS ESR2 GABRD FREM2 DHH RAD21 PPP1R12A RERE WWOX POC1A HP_ABNORMALITY_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CLITORIS RSPO1 PEX11B TBC1D20 INSR UBR1 CYP11A1 PPARG HCCS CEP152 PEX12 FDXR NR5A1 PEX5 WNT5A TALDO1 CD96 ATIC PEX19 MKRN3 SNORD115-1 BSCL2 CDC45 PEX6 CYP11B1 PORCN MAGEL2 PEX2 NDN SNRPN CAV1 COX7B FIG4 TOE1 ZFPM2 SRY NDUFB11 PEX10 POR DHX37 ESCO2 FGFR2 OCA2 TRAIP PEX16 B3GLCT ORC6 NR0B1 AGPAT2 PEX1 VAMP7 DMRT3 FRAS1 ORC4 ATR WT1 UBE3B DVL3 HSD3B2 RAB3GAP1 SOX9 PEX26 PEX13 PWRN1 CCNQ KAT6B GATA4 CDC6 SIM1 DVL1 HERC2 ISL1 ORC1 PWAR1 VAC14 MAP3K1 RAB18 RAB3GAP2 GAD1 FOS CAVIN1 CDT1 ROR2 PEX3 DHCR7 FZD2 NPAP1 TP63 PPP1R12A SNORD116-1 PEX14 WWOX POC1A GMNN HP_ABNORMAL_LABIA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MORPHOLOGY TBC1D20 CHRNG NIPBL NR5A1 WNT5A PMM2 ATIC MKRN3 SNORD115-1 BSCL2 CYP11B1 PORCN ZFPM2 RIPK4 MAGEL2 PLAGL1 ACTB HDAC8 NDN SNRPN FIG4 SRY HYMAI FGFR2 CTCF POR SMCHD1 DHX37 ESCO2 KMT2A IRF6 OCA2 ORC6 SEMA3E NR0B1 VAMP7 DMRT3 ORC4 LIPE B3GLCT WT1 TP63 HSD3B2 RAB3GAP1 SOX9 CHD7 SLC25A24 SMC1A PWRN1 CCNQ KAT6B GATA4 SETD5 CDC6 AR SIM1 DVL1 HERC2 DVL3 RAB3GAP2 AGPAT2 ORC1 PWAR1 SETBP1 VAC14 RAB18 CDC45 GAD1 ESR2 MYH3 CDT1 ROR2 GMNN LMNA FZD2 NPAP1 RAD21 INSR ECEL1 MAP3K1 SMC3 SNORD116-1 WWOX UBE3B HP_HYPOPLASTIC_LABIA_MAJORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_LABIA_MAJORA IRF6 CDC45 B3GLCT GAD1 TP63 HDAC8 ESR2 FIG4 NIPBL WNT5A DVL1 CDT1 SLC25A24 FGFR2 ORC4 SMC1A CTCF SMCHD1 POR SETD5 CDC6 ROR2 ORC1 GMNN KMT2A FZD2 ORC6 RAD21 DVL3 RAB3GAP2 ECEL1 SMC3 RIPK4 SETBP1 VAC14 UBE3B HP_CLITORAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLITORAL_HYPOPLASIA B3GLCT TBC1D20 DVL3 RAB3GAP1 WNT5A OCA2 PWRN1 CDC6 SIM1 DVL1 SNRPN HERC2 MKRN3 SNORD115-1 NDN PORCN PWAR1 MAGEL2 RAB18 CDC45 RAB3GAP2 CDT1 ROR2 ORC1 FZD2 NPAP1 ORC6 SNORD116-1 ORC4 POC1A GMNN HP_AMBIGUOUS_GENITALIA_FEMALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_FEMALE CYP11B1 WT1 TNXB HSD3B2 DHCR24 MKS1 SRY TBX15 CYP19A1 POR HP_AMBIGUOUS_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA RSPO1 WDR35 VANGL1 CYP11A1 ZIC2 SHH HCCS GLI3 BUB1B NR5A1 FGFR1 CYP19A1 DHX37 FDXR TMEM216 MYRF SRY MKS1 CEP120 GATA4 FZD2 TMEM231 SIX3 CYP17A1 DYNC2H1 RPGRIP1 HSD17B3 POR ARX CYP11B1 CEP55 CYB5A ZFPM2 CILK1 CKAP2L BUB1 RIPK4 WT1 CC2D2A NR3C1 SOX9 B9D1 TNXB BUB3 TCTN2 DISP1 ATRX TBC1D24 COX7B TBX15 TOE1 TWIST2 TSPYL1 DHCR7 NDUFB11 DLL1 SRD5A2 AKR1C2 B9D2 IRF6 NODAL TRAIP CEP57 IGF2 NR0B1 HSD3B2 VAMP7 DMRT3 DYNC2I1 SUFU SOX3 PHGDH TMEM107 TGIF1 GLI2 WNT4 NEK1 PAX6 GAS1 HOXD13 FGF8 WDPCP FREM2 TMEM67 BDNF DYNC2I2 CDON RPGRIP1L CSPP1 TDGF1 DHCR24 PBX1 IFT81 IFT80 CEP41 TRIP13 AKR1C4 FOXH1 SC5D PTCH1 GRIP1 CTU2 CEP290 FUZ MAP3K1 PSAT1 CHD4 FRAS1 NR2F2 WWOX HP_FUSED_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSED_LABIA_MINORA POR ATIC CYP11B1 ZFPM2 FGFR2 HP_HYPOPLASTIC_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_LABIA_MINORA ACTB RAB18 MAGEL2 CDC45 RAB3GAP2 TBC1D20 GAD1 ORC6 NDN RAB3GAP1 SNRPN OCA2 DVL1 CDT1 WNT5A PWRN1 CDC6 ORC1 SIM1 HERC2 FZD2 NPAP1 MKRN3 SNORD115-1 DVL3 SNORD116-1 PWAR1 ORC4 SETBP1 GMNN HP_LABIAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LABIAL_HYPERTROPHY KAT6B BSCL2 ESCO2 INSR LMNA AGPAT2 HYMAI PLAGL1 HP_URETHRAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_ATRESIA TMEM107 WDPCP TMEM231 CC2D2A B9D2 WNT3 TMEM67 TCTN2 GRIP1 RPGRIP1 CEP290 FREM2 MKS1 TP63 ZIC3 TMEM216 RPGRIP1L CSPP1 FRAS1 CEP55 FANCB B9D1 HP_ABNORMALITY_OF_THE_URETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETER KDM6A CLIP2 HSPA9 STK11 SALL4 WFS1 PUF60 CDH11 HES7 HPSE2 ERCC6 HOXA13 HNF1B TBX1 ATRX PRMT7 SPINT2 MKS1 MAP3K7 SHANK3 BRCA1 LMNA SLC6A17 FANCI PIGN KCNA1 CEP152 RPGRIP1 UFD1 FLII FOXF1 SLX4 MFSD2A MLXIPL FIBP RAD21 KANSL1 ACTG2 PIGQ CEP55 COPB2 RAI1 SIK1 FANCB NPHP3 PAX6 KIF14 FAM20C HDAC8 SEC24C TNXB FLNA SIX1 KRAS GTF2IRD1 PLD1 GTF2I DHCR7 SETBP1 ASXL1 FANCM LRIG2 FBLN5 NAA10 RREB1 LMOD1 NRIP1 ZMPSTE24 TRRAP RFC2 PALB2 EVC MYCN HIRA EP300 SEMA3E NFIA GLI1 GATA3 BPTF PNKP GPC3 B9D1 TMEM107 B3GLCT SIX5 BRF1 EPG5 TBL2 KNL1 MAP11 DEAF1 SASS6 EYA1 LHX1 XRCC2 GP1BB SLC25A22 ZMIZ1 SMC1A CCNQ SETD5 RIPK4 MNX1 PEX6 SDHAF1 MYOD1 KMT2D RAD51C CREBBP SDHA LAMC2 AXIN1 HAAO NDUFAF3 BICC1 LIMK1 RNU4ATAC EDNRA SETD2 MCPH1 MBTPS2 SALL1 SCN1B FANCE IQSEC2 NEUROD2 UBE2A AFF4 TRPS1 COL18A1 RARB GRHPR CDKN1C MYH11 SPECC1L NADSYN1 SOX17 ROBO2 CEP290 PAX2 RERE TP63 JMJD1C RAD51 YY1 CDKL5 AVPR2 FUZ CHD4 DVL3 SMC3 EFEMP2 CEP135 CHRM3 VANGL1 SH2B1 WDR62 BCOR CEP63 NIPBL ITGB4 TMEM216 NCAPD3 HSPG2 LAMB3 PIGT NCAPG2 SDHD PIGA TMEM231 PPP3CA FANCD2 COMT PYCR2 PHC1 HNRNPK PIGP MESP2 CDC45 ASPM BNC2 EHMT1 TRIM8 BRIP1 PORCN GPC4 RECQL4 JAG1 DDX6 CC2D2A STIL TCTN2 IGF2 PIGO ACTG1 CDK6 APC2 PSMD12 METTL5 PIGL ZEB2 ANKLE2 SCN2A CCBE1 RAB23 ACTB PIEZO2 B9D2 PRTN3 NKX2-1 KMT2A POLR3A RIPPLY2 DYNC2LI1 DMXL2 LONP1 DSTYK ERCC4 FANCF CENPJ DLL3 CIT GNAO1 EXT1 RPL11 GLI3 ERCC8 CHD7 ARVCF BRCA2 DACT1 GATA6 HLA-DPA1 WDPCP NSD1 CHRNA3 TMEM67 PLEC FANCC KMT2C ELN ISL1 CASK CPT2 RALGAPA1 RPGRIP1L CSPP1 CTLA4 GREB1L BAZ1B NECTIN1 FGFR2 ARX TAF13 PBX1 FANCL KCNQ1 KCNQ1OT1 SLC26A1 STXBP1 LAMA3 STRA6 HLA-DPB1 UBE2T EVC2 RFWD3 PTPN22 FANCG TBX18 CDK5RAP2 HNRNPU FANCA KCTD1 SDHB MYLK MAD2L2 LFNG ITGA6 STAMBP AQP2 EBF3 UMPS ARNT2 ATP7A MKKS SPOP HP_URETEROCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROCELE SIK1 GNAO1 ITGB4 ARX HNF1B SCN1B STXBP1 LHX1 LAMA3 LAMB3 NEUROD2 SCN2A SLC25A22 KCNA1 PEX6 ITGA6 PLEC DMXL2 PIGP TP63 LAMC2 CASK CDKL5 TRIM8 PIGQ PNKP HP_URETERAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_STENOSIS KDM6A SIX5 BRF1 FLNA CDH11 SETD2 HOXA13 APC2 PIGL HNF1B SLC26A1 DHCR7 HLA-DPB1 PTPN22 TBX18 HLA-DPA1 PRTN3 NSD1 PIGT MYOD1 KMT2D DSTYK EYA1 YY1 CTLA4 SETBP1 SIX1 HP_HYDROURETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROURETER CHRM3 WFS1 BCOR FANCI ERCC6 GLI3 LAMB3 ERCC8 XRCC2 BRCA1 BRCA2 PIGN RIPK4 FANCD2 SMC3 FANCC RAD51C FOXF1 SLX4 LAMC2 NDUFAF3 BRIP1 GPC4 SETBP1 FLNA FANCB RNU4ATAC EDNRA FAM20C MBTPS2 ACTG1 FANCL PLD1 FANCE LAMA3 FANCM UBE2T EVC2 NAA10 RFWD3 FANCG TBX18 LMOD1 RAB23 ACTB PIEZO2 FANCA MYH11 HPSE2 PALB2 MYLK MAD2L2 SOX17 EVC DYNC2LI1 LONP1 TP63 ACTG2 ERCC4 RAD51 GLI1 AQP2 AVPR2 MKKS FANCF GPC3 HP_URETERAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_DUPLICATION TMEM107 B3GLCT VANGL1 CC2D2A PIGN TCTN2 SETD2 ZMPSTE24 PBX1 APC2 TMEM216 SPINT2 GATA6 LMNA COL18A1 SLC6A17 WDPCP TMEM231 B9D2 KCTD1 PSMD12 NSD1 TMEM67 RPGRIP1 CEP290 FIBP MKS1 CPT2 RPGRIP1L CSPP1 AXIN1 FUZ PORCN GPC4 CEP55 GPC3 B9D1 HP_URETEROPELVIC_JUNCTION_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION KDM6A SIX5 BRF1 NSD1 SETD2 MYOD1 DHCR7 KMT2D DSTYK HOXA13 APC2 EYA1 PIGL HNF1B SLC26A1 YY1 TBX18 SIX1 HP_RENAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DUPLICATION BAZ1B CLIP2 LIMK1 ELN TBL2 ITGB4 GPC3 FANCD2 GP1BA GTF2IRD1 GPC4 WNT5A GTF2I ZEB2 GP9 SLC6A17 ROR2 KCTD1 RFC2 DVL1 ITGA6 FOXC2 B3GLCT KANSL1 GP1BB HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY RHO CLIP2 CYP11A1 ANOS1 CDKN1A WFS1 AMH FSHR FOXL2 GP1BA ERCC3 HESX1 GNRH1 LARS2 ATRX NANOS1 BRCA1 AIP SYCP2 XPC DDB2 PROKR2 IFT27 TEX15 M1AP CCDC114 CTNS NR5A1 PREPL SAG IL17RD F8 MAGEL2 POLR3B FEZF1 PPP2R3C HDAC8 IFT140 CTNNB1 SNRPN ROBO1 SLC29A3 CCDC103 DHH GBA2 FANCM RSPH9 THOC6 PPM1B ITGA8 C8orf37 NDN LRRC6 GAS2L2 BSCL2 PMFBP1 TBL1XR1 CFAP43 PHKA2 MSTO1 BPTF RP1 SUN5 PDE4D CFAP69 LHB TBL2 LHX4 BRCC3 MT-ND5 AHI1 GAS8 PROP1 XRCC2 TWNK RARA SOS1 DNAAF6 WDR11 TGFB1 MEN1 F10 DNAH9 HERC2 MT-ND6 BICC1 ERCC5 BRAF FGF8 DDX3Y ERCC1 ERCC8 LIMK1 FGA F5 ZNF513 AKT1 ITGB3 BCS1L CATSPER2 DNAAF1 CCDC8 MT-TL1 VWF PNPLA6 PCARE FGG PSMC3IP PTPN11 DCAF17 POLG GLI2 PROK2 AK7 STEAP3 HUWE1 KISS1R NPAP1 SIL1 BLM RAD51 DMPK SMC3 POF1B SNORD116-1 CDY2A CHD7 CHRNG WRN F7 DHX37 DCC CISD2 PDE8B NEK2 NABP1 BBS5 SIX6 WIPF1 SEMA3A NR0B1 FANCD2 RPS4Y2 IFT88 MKRN3 SNORD115-1 FIGLA ANAPC1 KISS1 MT-TF PDE11A POLD1 SMCHD1 MCM3AP RGR CTDP1 PTCH1 IMPDH1 PRKAR1A IFT172 BRDT SPATA16 ZFPM2 ALX4 DNAJC6 RSPH3 ABCD1 WEE2 SPEF2 BBS9 CFTR RSPH4A ZBTB20 TP63 HSD17B3 IQCB1 LZTFL1 TACR3 DAZ2 DNAAF2 DNM1L TRIP13 HBB KDM5D ATXN8OS ZP3 NR3C1 PKD1 DNAH1 TTC25 NF2 OCA2 HS6ST1 USH2A OBSL1 FGF17 NOBOX ADGRG2 AGBL5 NSD1 LEPR ARHGEF18 AR TXNRD2 FANCC HARS2 HSD17B4 RRAS HLA-B DAZ1 BMP4 NECTIN1 ELN NPHP1 FOS STRC MT-TW COQ2 RIT1 MCFD2 ITGB6 ANTXR1 SOX9 HSFY1 PRKN RBP3 IGF2 CA4 ERCC4 MAD2L2 SDCCAG8 AMACR TTC8 LMNA CCDC39 CDC14A DNAI2 MAP3K1 RERE BPY2 MRE11 POC1A NME8 SLC7A14 DNAH17 NUP107 DNAAF4 PTDSS1 SNRNP200 ZP1 TOPORS TTR CCDC151 FCGR2A RRAS2 FAS HFM1 SEMA4A STAT3 IDH3A HPS4 CDH23 SLX4 POLR3A ERCC6 AXL WT1 BBS1 GNAS BBS2 HAMP GTF2IRD1 SPINK2 ZMYND10 DNAI1 H6PD CAV1 PDE6A RFC2 PALB2 GUCY1A1 RBM28 ANK1 MT-TS2 SEMA3E SYNJ1 F13B TEX11 GP1BB NIN SOX3 TYMP ESR1 LIPE KLHL7 GALT PMM2 GPR161 CDKN1B HSD3B2 USP8 LRAT MDM2 GDF9 FLI1 PDGFB DNAH11 SOX2 CYP19A1 POLE TTI2 SETD2 FANCE CCR6 CAVIN1 SMAD4 SOX10 SNCA RIN2 MNS1 TBX3 INPP5K CBL AHR QRICH2 MAK BMPR1B IKZF1 SMO DNAAF5 SPAG1 PEX6 FMR1 FANCA TBL1X SERPINE1 PLCZ1 PODXL NDP CUL4B CYP17A1 CDKN2C WAS EIF2B4 HYDIN FSHB PATL2 DZIP1 ERCC2 STUB1 CFAP300 DHX38 AKT2 DUSP6 MSH5 HTRA2 DNAAF3 CCDC28B MT-TQ NIPBL CACNA1G CFAP251 GALK1 CUL7 POR RLBP1 CNGA1 NR2E3 PRDM16 PRY DRC1 IFT74 FSIP2 AGPAT2 ERAL1 KLHL10 FANCF AARS2 RSPH1 REEP6 HMGA2 PLXND1 PHGDH STS ITGA2B MEIOB IDH3B RNF216 IER3IP1 BEST1 RNU4ATAC CDKN1C GALC NUMA1 PRPF31 AURKC HJV LMNB1 LMAN1 PPARG RRM2B HPS5 DAZ3 DNAJB13 USP9Y MERTK BAZ1B MRAP PLAU FIP1L1 ESR2 POLR1C ROM1 FANCL PHF6 PRPF8 MEI1 NBEAL2 CLPP PARK7 PSAT1 IRF2BP2 CCNO DHDDS ZP2 VPS13C POLA1 CATSPER1 UCHL1 SMARCE1 EYS TRAF3IP1 STAT5B SLC26A8 RP2 RPGR PRPF4 BBS12 PDE6B MT-ND1 DMXL2 BBS4 HFE CYP11B1 AGGF1 CFAP298 PINK1 OCRL NRL PSMB8 GBA GTF2I PML NTN1 MRPS22 BCOR FANCB SLC25A13 MT-CO1 PRKCD FGFR1 AMHR2 BLOC1S3 LSS PTCH2 MRPS7 SCP2 NEK10 RAB3GAP1 CCDC65 SMARCB1 DMRT3 SLC3A1 ARL2BP SOS2 ALG1 IGF1 STAG3 POMGNT1 CLRN1 SEPTIN12 SMC1A DNAL1 GATA4 LHCGR SYCP3 EIF2B2 CFAP58 TEX14 SACS PHKG2 PWAR1 CDON EIF2B3 CEP112 TSGA10 SLC40A1 RASGRP1 CEP290 AIRE GJB2 TDRD9 TLE6 TRMT10A RP9 NNT ARL6 MCM8 ALMS1 MRAS FSCN2 PKD2 OFD1 F11 MC2R DAZ4 TAC3 TRAF3IP2 RBMY1A1 TRAF7 SPRY4 NBN USP7 BNC1 PAPSS2 EIF2S3 TTC12 MAP2K1 KIAA1549 SRY SLC2A3 CERKL TP53 CFAP65 TUBB8 F13A1 RTN2 MPLKIP TRIM32 CDKN2B BBIP1 MT-CO3 PSMD12 FGB CBX2 KCNAB2 SUFU KRAS AHSG LEP BBS10 VAMP7 MYH9 GNRHR RECQL4 NSMF SOHLH1 F2 PGR INVS BMP15 SRA1 RCBTB1 RPE65 ARMC4 IL17F CDHR1 WDR19 DNAH8 GABRD FOXA2 SLFN14 CCN2 ZNF408 PEX1 HGSNAT WNT4 NDNF UBE2T SYCE1 CDY1 B4GALNT1 MT-ND4 RAF1 ATP7B TTC29 RAD21 ABCA4 NPM1 EIF2B1 WDPCP ZBTB16 HNF1B ARSL REV3L ZMYND15 NRAS RASA2 DNAL4 PADI6 DNAH2 CNGB1 DBH PANX1 PLIN1 POU1F1 SGPL1 RAB3GAP2 HEXB TSPY1 BTG4 CFAP410 GP9 SCAPER PRY2 CNBP KIZ RP1L1 ARMC2 MGME1 BAP1 STK36 POLR3H SPIDR LIG4 A2ML1 FANCI GPR101 CASP10 CRX CAMKMT CEP164 SETD5 GTF2H5 SIM1 SNAP29 RAD51C CYB5A SKI PROM1 XPA PRKACG GANAB BBS7 MYH3 TAF4B MT-TH IMPG2 CLEC7A CFAP70 NPHP3 FOXJ1 CCDC141 FASLG PDE6G CHRM3 CRB1 WNT7A TERT ATM DNAH5 VCY STAR SPATA7 LRRK2 PRPF3 PRCD CCDC40 RDH12 BRIP1 CEP19 PCSK1 LRRC56 TKT TULP1 SAMD9 LAS1L SLC39A4 APC2 CIDEC IL17RC CFAP221 MKKS SRD5A2 EIF2B5 PRKACA PRLR KMT2A BMP2 ZMPSTE24 HTT PRPH2 ARMC5 ARL3 IL17RA GUCA1B DMRT1 GCM2 CFAP44 BRCA2 PWRN1 TUB GFI1B MKS1 FAM161A MCM9 NPHP4 PRPF6 DIAPH2 OPA1 C11orf80 GHR HLA-DRB1 IRF5 FLRT3 PLAG1 LZTR1 RFWD3 MCIDAS GP6 FANCG PIK3CA OTX2 TFR2 MT-CO2 WWOX HP_DUPLICATED_COLLECTING_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATED_COLLECTING_SYSTEM IARS1 TELO2 FANCC FANCD2 TP63 FANCE MAPK1 KMT2D FANCA PIGL LAMC2 POGZ TNXB LAMA3 LAMB3 KDM6A JAG1 PIGA HP_RENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_INSUFFICIENCY NOD2 LCAT CLIP2 IFT43 WT1 TBC1D8B CD46 NPHP1 IFT122 SCNN1G TP53RK APRT TMEM231 BRCA1 TRAF3IP1 HSD11B2 FAM20A CFI BTNL2 IFT140 NOTCH2 MMACHC MLXIPL CTNS GATA3 STAT4 NPHP3 OCRL HDAC8 ALOX12B MT-TK LAMB2 HPRT1 MME IL23R PTPN22 PAX2 MT-TE KCTD1 GTF2I AVIL IFT172 GSN FANCM TMEM67 PLCE1 PKD1 CLDN10 MAGI2 KIAA0586 PRKCD DYNC2I1 WDR19 RYR1 KYNU DCDC2 NLRP3 TTC21B CYP4F22 UMOD TBL2 CLCN5 LMX1B SEC61A1 CC2D2A NPHS1 LHX1 INPP5E NUP85 XRCC2 CFH COL4A1 SMC1A MAFB SLC34A1 TMEM237 KCNE5 UBAC2 BICC1 RAD51C FN1 EYA1 SLC22A12 REN NUP93 AGXT HRAS ERCC8 LIMK1 FAH SHPK DNASE1L3 RASGRP1 CEP290 SALL1 NPHP4 HLA-DRB1 IL12A CORIN INVS SMARCAL1 LAGE3 CEP83 IRAK1 ALMS1 CPT2 PKD2 C4A CLCNKA RAD51 BBIP1 COQ8B FUZ FLT1 SMC3 STAT2 ANLN SIX1 GLA RPGRIP1L ALOXE3 GATM APOE C3 DYNC2H1 PGK1 SCNN1A PEX7 EIF2AK3 CDC73 CFHR1 FANCD2 TSC2 ANKS6 CCR1 BNC2 WDR73 EHMT1 MAPKBP1 OFD1 MT-TL1 PKDCC TMEM216 DYNC2LI1 LEMD3 MUC1 GRHPR SLC3A1 FAN1 PRTN3 PAX6 DSTYK ERCC4 IQCB1 LZTFL1 MYCN BBS10 AHI1 HBB TMEM260 ERAP1 COL7A1 OSGEP HLA-DPA1 NSD1 XPNPEP3 ACP5 SLC7A9 FANCC SCARB2 PUS3 STOX1 TRPC6 CTLA4 HLA-B CLPB GLIS2 PGAM2 MEFV ELN CD2AP MMP1 PBX1 CCN2 COG1 UBE2T CCNQ IFT27 PRPS1 WDR35 MAD2L2 SDCCAG8 CLDN16 RAD21 AQP2 EHHADH TCF4 SDR9C7 PPOX HPSE2 ERCC6 SULT2B1 SPP1 HNF1B DNAJB11 ACSL4 GCDH FAS CCND1 NUP133 AMMECR1 SLX4 TGM1 ELP1 NUP205 SGPL1 NUP107 FANCB LPIN1 OCLN IL10 GTF2IRD1 CAV1 LRIG2 DHDDS PYGM PKHD1 COL4A3 MEN1 RFC2 PALB2 ITGA3 SLC30A9 IFT80 SIX5 HPS1 NUP160 THBD SOX18 CFHR5 FANCI SLC37A4 MDM2 TMEM138 CASP10 CEP164 SETD5 NIPAL4 TMEM126B NDUFAF6 BSND MT-TT CACNA1S CFB TCN2 GANAB SARS2 SETD2 FANCE CCR6 INF2 GCM2 IL12A-AS1 NTRK1 SCNN1B MYH9 HELLPAR AVPR2 CHD4 PRDX1 CFHR3 IKZF1 FASLG SPRY2 CLCNKB SAA1 LDHA SLC7A7 CHRM3 VANGL1 MST1 SH2B1 BBS9 MMUT COL4A4 DYNC2I2 ZNF592 MYOCD ACTN4 DZIP1L BRIP1 JAG1 FXYD2 LIPN APC2 SLC5A1 CD151 NIPBL MYO1E KMT2A ALDOB PNPLA6 CEP120 NEK8 GPR35 NPHS2 FANCF COL4A6 APOL1 TLR4 HOXA13 ZNF423 STS ARHGDIA BRCA2 DACT1 TPRKB CHRNA3 COL4A5 TSC1 CSPP1 MYD88 IRF5 BAZ1B KLRC4 HMBS FANCL CRB2 SLC26A1 HLA-DPB1 RFWD3 FANCG TBX18 RMND1 FANCA PHYH ABCA12 AP2S1 DGKE MOCOS CLDN19 HNF4A HP_HORSESHOE_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORSESHOE_KIDNEY KRAS RBM10 SALL4 ADAMTS3 RPL11 FANCE DSE FANCA SNRPB CHD7 MAP3K7 RBM8A SLX4 RPS24 GATA1 DSTYK NRAS FANCI EXTL3 TSR2 RPL26 SON FAT4 RPS26 RPS28 HNF1B HMGA2 RPS17 TCTN3 SSR4 DYNC2LI1 RPS19 AFF4 RPS29 RPL18 PORCN CD96 GREB1L LEMD3 FGFR2 STAG1 CCBE1 PUF60 FANCD2 PBX1 DDX59 COLEC10 STRA6 SC5D PAX2 ADA2 CCNQ MNX1 RPL5 THOC6 RPL35A RARB RPS10 COLEC11 POR ESCO2 HNRNPU WT1 RPL35 RPL15 RPS7 SMOC1 CWC27 C8orf37 FANCC ZIC3 RPL31 RPS27 MYCN CHST14 RPS15A SEMA3E DKC1 HNF4A HRAS SRY RPL27 HP_ECTOPIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_KIDNEY KDM6A CLIP2 VANGL1 TBL2 SALL4 JAM3 PUF60 SOX4 GLI3 ADAMTS3 FANCE NIPBL MAFB FANCA XRCC4 DPF2 SNRPB SPECC1L ARID2 SLX4 DDX59 SMARCE1 FGFR1 DACT1 HOXD13 CCNQ APC SPINK5 LRP4 FAT4 RBBP8 ARID1B SMARCA4 HMGA2 KMT2D CHN1 LEMD3 ELN MLXIPL ARID1A ZEB2 DDX6 BAZ1B LIMK1 SOX11 CCBE1 FANCD2 PBX1 SALL1 GTF2IRD1 STRA6 GTF2I SMARCD1 SMARCC2 WAC NRIP1 RTTN WT1 RFC2 SMS FANCC DNA2 RPS26 SMARCB1 FUZ DYRK1A HP_RENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA WDR35 CLIP2 HSPA9 PUF60 DLL4 TBX1 NIPBL ERCC6 HNF1B ATRX PRMT7 COX14 PPP1R15B NCAPG2 PDE6D CEP120 TTC37 FANCI COMT BCOR NOTCH2 UFD1 HMGA2 ARID1B MLXIPL RAD21 JAG1 LEMD3 PIEZO2 KIF14 SEC24C INTU GTF2IRD1 PAX2 RPS19 KCTD1 MUC1 GTF2I ARL6 DHCR7 PQBP1 RREB1 RNU4ATAC TRRAP RFC2 WDR19 MBTPS2 HIRA NFIA SEMA3E KYNU CENPF DYNC2I1 FRAS1 B3GLCT TBL2 MDM2 XRCC4 CEP55 GLI3 ATN1 ERCC8 GP1BB ARVCF DACT1 RFWD3 FREM2 CHD7 DYNC2H1 TXNL4A MYOD1 SALL4 DYNC2I2 ELN FANCL REN HAAO FAT4 SKIV2L GEMIN4 BMP4 BAZ1B LIMK1 PBX1 SALL1 IFT80 STRA6 NAA10 DCHS1 MCM5 TBX18 RARB RMND1 GRIP1 ROBO2 TBX3 JMJD1C LRP4 FBXW11 HP_NEPHRONOPHTHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRONOPHTHISIS IFT43 NPHP1 DYNC2I2 INVS DYNC2H1 TRIP11 CEP164 TRAF3IP1 IFT172 SDCCAG8 TMEM216 XPNPEP3 IFT140 NPHP4 ANKS6 TTC21B WDR19 MAPKBP1 TMEM67 ZNF423 GLIS2 CEP290 CEP41 DYNC2LI1 FAN1 RPGRIP1L IQCB1 TMEM138 DYNC2I1 CEP83 NPHP3 CEP120 IFT80 NEK8 DCDC2 AHI1 HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY SLC7A7 CLIP2 MT-ND4 PDSS2 TBL2 CLCN5 MT-TW NUP107 PKHD1 SURF1 NPHS1 CTNS MT-ND1 FOXP3 IFT122 CPT2 LAMB3 PMM2 BCS1L VPS33A CLCNKB NDUFB8 XPNPEP3 BTNL2 BSND NUP133 FOXC2 ACP5 PUS3 LAMC2 SLC22A12 NPHP1 GBE1 REN ACE MRPS22 MT-ND5 AGTR1 NDUFAF3 BAZ1B GLIS2 LIMK1 MT-ND6 ELN OCRL SHPK MT-TL1 SLC12A3 MT-ATP6 NDUFAF6 NPHP4 HLA-DRB1 UMOD GTF2IRD1 PTPRO GLA MUC1 GTF2I LAMA3 MT-ND2 COQ2 TMEM67 INVS FAN1 NDUFS2 ALG8 MYO1E RFC2 CEP83 MT-ND3 ALMS1 ITGA3 WDR19 SLC30A9 ANTXR1 NPHP3 AGT MT-TV MT-TK CA2 TRAF3IP1 MMUT SCO2 DPH1 HP_RENAL_TUBULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ATROPHY GLIS2 MYO1E XPNPEP3 CLCN5 NUP107 CEP83 NUP133 ITGA3 NPHS1 NPHP4 UMOD NPHP3 MUC1 NPHP1 REN TMEM67 VPS33A HP_ABNORMAL_RENAL_GLOMERULUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_GLOMERULUS_MORPHOLOGY MT-ND4 SLC37A4 TBC1D8B CRB2 SDHB HNF1B TP53RK ACSL4 ALMS1 EMP2 KCNJ1 FAS CFI EPAS1 NUP133 MMACHC AMMECR1 MT-ND1 ELP1 NUP205 SGPL1 GATA3 NUP107 WT1 STAT4 PGM3 OCRL MT-TK MME IL23R IL10 SDHAF2 PAX2 PTPRO FH MT-TE AVIL PLCE1 LMNB2 C1QC COL4A3 MAGI2 MT-CO1 PRKCD ITGA3 WDR19 MT-TV MT-TS2 COQ6 NPHP3 SDHD UMOD LAMB2 SLC7A7 LPIN2 NUP160 SOX18 CLCN5 LMX1B MT-ND5 CFHR5 SEC61A1 G6PC NPHS1 CASP10 NUP85 CLCNKB BSND KCNE5 MT-ND6 UBAC2 FN1 REN NUP93 FAH SDHA MT-TL1 DNASE1L3 MT-ATP6 RASGRP1 SLC25A11 IL12A NF1 MT-TH CFH INF2 C4A SMARCAL1 NARS2 IL12A-AS1 LAGE3 CEP83 C3 COQ8B FASLG ANLN SPRY2 APOE COL4A4 C1QB ITGB4 MYOCD COQ2 RET WIPF1 C1QA WAS ACTN4 MTRR VHL CCR1 WDR73 MT-TF JAG1 TMEM127 COPA MT-CO3 GLA MUC1 TREX1 MT-ND2 MT-TQ PRTN3 MYO1E CD81 MTX2 NPHS2 APOL1 MT-TW ERAP1 MAX TLR4 DNMT3A SLC12A1 FOXP3 LMNA MDH2 COL7A1 ARHGDIA OSGEP HLA-DPA1 VPS33A TPRKB COL4A5 PLEC FOXC2 SCARB2 JAK1 SDHC TRPC6 CTLA4 DLST ZAP70 MEFV HLA-B CD2AP KLRC4 SLC12A3 MMP1 HLA-DPB1 PTPN22 MT-ND3 DGKE ADA MT-CO2 HNF4A KIF1B HP_GLOMERULAR_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULAR_SCLEROSIS SDHD NUP160 SLC37A4 CLCN5 MT-ND5 NUP107 TBC1D8B MAX SEC61A1 CRB2 G6PC NPHS1 DNMT3A ITGB4 MDH2 SDHB WT1 NUP85 TP53RK COQ2 OSGEP RET VPS33A CLCNKB TPRKB BSND EPAS1 NUP133 ACTN4 MT-ND6 PLEC SCARB2 VHL MT-ND1 REN SDHC WDR73 TRPC6 NUP93 MT-TF NUP205 SGPL1 DLST JAG1 FAH TMEM127 CD2AP SDHA ELP1 INF2 SLC12A3 MT-TW SLC25A11 MT-CO3 SDHAF2 MT-TL1 PAX2 PTPRO FH MUC1 NF1 TREX1 MT-TQ PLCE1 MT-TH MT-ND4 SMARCAL1 NARS2 MYO1E MT-CO1 LAGE3 ITGA3 MT-TS2 COQ8B MTX2 COQ6 MT-CO2 NPHS2 KIF1B ANLN APOL1 HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS NUP160 SLC37A4 CLCN5 MT-ND5 NUP107 TBC1D8B SEC61A1 CRB2 G6PC WT1 NUP85 VPS33A CLCNKB NUP133 ACTN4 MT-ND6 SCARB2 MT-ND1 REN WDR73 TRPC6 NUP93 MT-TF NUP205 SGPL1 JAG1 CD2AP INF2 SLC12A3 MT-TW MT-CO3 MT-TL1 PAX2 PTPRO MT-TQ PLCE1 MT-TH MT-ND4 SMARCAL1 NARS2 MYO1E MT-CO1 ITGA3 MT-TS2 COQ8B MTX2 COQ6 MT-CO2 NPHS2 ANLN APOL1 HP_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALL_STATURE GRIA3 PPARG CDKN1A TUBB4A MC4R FGFR3 MED12 SOST LARS2 FBN2 COL6A1 TGFBR2 ZNF469 SUZ12 SHANK3 PRKG1 TRIM32 FARSB FAM20A MYT1L CCND1 ASXL3 PIGL FBN1 ACTA2 BSCL2 TPM3 FIBP TRMT1 KANSL1 ACTL6B CYP11B1 TGFBR1 AGGF1 SMAD4 POLG DIS3L2 FBXW11 NSD1 MED13 ATP6V1A NEB CBS PTEN ABAT SMAD3 NSD2 CNOT1 ACTL6A TANC2 ELN MYH11 NPR2 DLK1 TGFB1 KIF7 HRAS MYLK NKAP GPC3 ESR1 MAN2B1 CDKN1B DOCK3 PIK3CA DDX6 GPC4 DSE COL6A2 GPR101 MEG3 TIMM50 NELFA TCF20 COL6A3 UPF3B NF1 EZH2 MFAP5 RET STRADA MTM1 SETD2 NTNG1 FGF3 CAVIN1 COL1A2 NNT CDKN1C TGFB2 LOX NFIX SMS PDGFRB CHST14 ACTA1 SUFU MC2R ZMIZ1 POF1B WRN RTL1 MAT2A CYP19A1 AIP PDE8B STAR PIGA NRAS LETM1 SLC6A8 KMT2E CDKN2C DNMT3A PRKAR1A LHCGR NSDHL HNRNPK PYROXD1 EED EFEMP2 COL2A1 PDE11A SVBP IGF2 FKBP14 CAV1 CDKN2B APC2 HPGD HERC1 PRKACA MGAT2 POR FOXE3 KBTBD13 MEN1 GLI3 POLR3A TGFB3 DNA2 RERE EHMT1 AGPAT2 AKT1 NONO HSPG2 KRAS KLHL41 CHD8 RLIM TYMP BPTF PAFAH1B1 ZDHHC9 SRY DICER1 LRP4 TXNRD2 KMT2C ATP6V1E1 PSMD12 PLOD1 FBLN5 BCORL1 MRAP FOS DLG4 MYPN KCNQ1 KCNQ1OT1 TPM2 C1R YWHAE WDFY3 PTCH1 SARS1 TRAPPC4 RNF135 HP_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULONEPHRITIS ZAP70 SLC7A7 PGM3 SOX18 LMX1B COPA NUP107 MMP1 MME CFHR5 RASGRP1 C1QB FOXP3 COL7A1 PRKCD CASP10 ALMS1 LMNB2 FAS EMP2 C1QC COL4A3 MAGI2 C4A C1QA CFI LAGE3 WDR19 C3 DGKE CD81 JAK1 FASLG HP_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROTIC_SYNDROME ZAP70 LIG4 IFIH1 MARS1 TBC1D8B LYZ COL4A4 CRB2 ARL6 WDPCP IL7R LZTFL1 NR5A1 FN1 SPP1 ZNF592 TP53RK RASA1 COQ2 MEFV PMM2 EMP2 CCND1 NUP133 CHST14 RAG1 IFT27 VPS33A WDR73 C1QBP NUP205 SGPL1 GATA3 NUP107 B2M WT1 CEP290 BBS1 FGA PDSS2 LAMB2 MME TRIM32 BBIP1 NLRP3 PAX2 PTPRO GLA ZFPM2 SRY AVIL BBS10 MKKS BBS5 PLCE1 LMNB2 COL4A3 BBS9 DHX37 MAGI2 TPRKB MYO1E BBS4 IL2RG ITGA3 SLC17A5 NR0B1 COQ6 VAMP7 NPHS2 DMRT3 WDR4 CHD7 NUP160 BBS12 LMX1B SOX9 NPHS1 SERPINA1 FOXP3 RAG2 PRKCD IFT172 NUP85 KANK2 ARHGDIA OSGEP SLC35A2 GATA4 MKS1 COL4A5 SNAP29 LAGE3 SCARB2 RMRP PUS3 JAK1 TRPC6 NUP93 ADA CASP10 C8orf37 NPHP1 BBS7 CYBC1 SDCCAG8 GSN TBX18 STAT4 SMARCAL1 IRAK1 TTC8 C3 DGKE COQ8B MAP3K1 BBS2 WWOX APOA1 ANLN DCLRE1C SAA1 HP_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYURIA SLC5A2 PTPN22 SARS2 NPHP4 SLC12A1 MAGED2 SLC34A1 KCNJ5 ITPR3 NPHP1 TMEM67 CLDN10 KCNJ1 CYP24A1 HNF1A FAM20A CASR CLCNKB AQP2 IL6 PLVAP BSND CLDN16 CLCNKA NPHP3 CTNS ATP1A1 AVPR2 KCNJ10 SLC12A3 HP_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_AGENESIS ANOS1 PUF60 SURF1 GLI3 FANCE ERCC6 HNF1B SF3B4 MKS1 FGF17 TSR2 SIX3 COG6 CEP152 PROKR2 MFSD2A FREM1 COPB2 IL17RD FEZF1 KIF7 KIF14 TNXB TBC1D24 DISP1 ITGA8 FAM149B1 KCTD1 DHCR7 GDF6 NSDHL ADA2 THOC6 FANCB CPLANE1 RPL35 RPL15 FANCC NODAL RPL31 PDE6D SEMA3E OFD1 GATA3 DYRK1A TGIF1 FGF10 KNL1 PIK3CD TFAP2A INSL3 MAP11 FGF20 SASS6 EYA1 KIAA0753 GLI2 WNT4 ATN1 GAS1 GATA1 FGF8 HESX1 RPL26 FREM2 CHD7 SON TBX1 RET SALL4 SETD2 MCPH1 ATRX MBTPS2 PTPN11 PHGDH NDUFS2 PTCH1 PRKAR1A FGFR3 NADSYN1 CTU2 ZIC3 HS6ST1 RPS15A LRP4 DHCR24 CCDC141 FUZ CEP135 RPL27 VANGL1 SH2B1 WDR62 ZIC2 SHH CEP63 FGFR2 FGFR1 DCC FANCA NCAPD3 SEMA3A TMEM216 ALDH18A1 PYCR2 WNT3 PHC1 RPS17 GREB1L RPL11 ASPM RPS19 NDUFAF3 STIL CDK6 APC2 METTL5 DLL1 ANKLE2 RPL35A WDR11 SDCCAG8 RPS10 PIEZO2 RPS7 TP63 CENPJ SUFU NSMF TCTN3 CIT LMBRD1 STS XRCC4 CDC42 ERCC8 RPS24 HOXD13 SOX10 NDUFB8 NSD1 RPS26 RPS28 CDON TACR3 TDGF1 RPS29 RPL18 PPP2R1A SIX1 PPP2R3C FLRT3 DUSP6 TAF13 FANCD2 SPRY4 PBX1 FOXH1 NDNF PROK2 CCNQ RPL5 CDK5RAP2 RTTN RPS27 KNSTRN KISS1R HNF4A PIK3C2A SCO2 HP_ENLARGED_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_KIDNEY NPHP3 SLC37A4 FAH GANAB PKD1 PKHD1 IGF2 BMPER SLC29A3 GPC3 G6PC GPC4 KCNQ1 KCNQ1OT1 INVS CDKN1C DYNC2H1 PIK3CA FIBP PKD2 ANKS6 BICC1 ZIC3 VPS33A CPT2 INSR DZIP1L CILK1 FANCB NEK8 SAA1 HP_RENAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CYST WDR35 CLIP2 PEX11B BUB1B WDPCP LZTFL1 PEX5 HNF1B TBX1 MKS1 SHANK3 CEP120 PEX12 TTC37 CD96 CSPP1 NPHP3 PIGN RPGRIP1 NOTCH2 UFD1 B9D2 IFT27 AMER1 TMEM231 BBS4 FIBP PEX6 CEP55 BUB1 BBS1 PEX2 OCRL HDAC8 SEC24C ARL3 TBC1D24 GTF2IRD1 ETFB GTF2I BBS10 TSC1 TSC2 DHCR7 SETBP1 COQ2 TMEM67 RREB1 PKHD1 HNF4A PKD1 LMOD1 RSPO2 NRIP1 PTEN RNU4ATAC KIAA0586 ESCO2 TRRAP RFC2 PKD2 TMEM107 HIRA ZNF148 CDC73 PEX1 GATA3 IFT140 ALG8 GPC3 B9D1 DYRK1A SNRPB SIX5 PMM2 PDSS2 TBL2 JAM3 TFAP2A ALG9 BMPER SEC61A1 LIPT2 PEX26 EYA1 GPC4 LHX1 INPP5E GP1BB COL4A1 PEX13 SMC1A SETD5 TMEM216 DYNC2H1 CEP290 DYNC2I2 BICC1 RAD51C LAMC2 NPHP1 SKI SKIV2L MCTP2 GANAB NEK8 C8orf37 APPL1 LIMK1 PDX1 VHL BBS7 SALL1 MBTPS2 NPHP4 FLNB UMOD INVS NEUROD1 OFD1 CDKN1C RPGRIP1L MYH11 GRIP1 PEX3 PAX2 JMJD1C MT-CYB SMC3 PEX14 SIX1 CHRM3 ETFA CC2D2A ARL6 NIPBL LAMB3 PIGT IFT43 HNF1A NXN COMT INS MKKS PEX19 KLF11 ANKS6 PRKCSH PAX4 ABCC8 DZIP1L MAPKBP1 JAG1 PIGQ GCK ETFDH PEX10 TKT GLIS3 IFNG BUB3 TCTN2 IGF2 TRIM32 BBIP1 MUC1 ZEB2 CEL BBS5 ARL6IP6 SDCCAG8 BBS9 B4GAT1 PIEZO2 TMEM138 KCNAB2 PRDM16 KMT2A PEX16 B3GLCT CEP57 RERE AKT1 DYNC2I1 HSD17B4 CCND1 BBS12 TMEM260 WNT3 TMEM237 TRIP11 GLI3 CPT2 IFT172 FLCN NEK1 ARVCF DACT1 HOXD13 KAT6B ROR2 XPNPEP3 FLI1 HDAC4 ZNF423 GREB1L LRP5 BAZ1B CLPB SEC63 ELN PUF60 GABRD SPOP FREM2 DHX16 IFT80 TRIP13 CRB2 KCNJ11 KCNQ1 STK11 KCNQ1OT1 LAMA3 TBX18 RMND1 MYLK PORCN CWC27 TTC8 MSH3 AP2S1 RAD21 BLK FRAS1 ACTG2 BBS2 HP_RENAL_CORTICOMEDULLARY_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICOMEDULLARY_CYSTS CRB2 NPHP3 MUC1 NPHP1 XPNPEP3 TMEM67 NPHP4 UMOD HP_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DYSPLASIA GNAO1 FKTN AMMECR1 ITGB4 PIGN SURF1 GLI3 INTS1 ARX EYA1 CEP55 PIGT SLC25A22 NDUFB8 NPHP3 SON USP9X DYNC2H1 KCNA1 TBX1 PLEC PIGP TTC8 CASK FIBP BNC2 TRIM8 PIGQ GATA3 GREB1L CSPP1 JAG1 SIX1 BICC1 SIK1 NDUFAF3 SHANK3 PBX1 MBTPS2 SCN1B POMT1 SALL1 STXBP1 NEUROD2 NDUFS2 SCN2A POMT2 TBX18 CPLANE1 SDCCAG8 RMND1 ITGA8 B4GAT1 PIEZO2 KIAA0586 PLVAP ITGA6 DMXL2 MYCN PAX2 TP63 SMO COQ7 ZNF148 FKRP CDKL5 PNKP IFT140 LARGE1 SIX5 SCO2 HP_NEPHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROPATHY VPS33B NOD2 CLDN19 RPGRIP1L WT1 LYZ CC2D2A SCNN1B CISD2 DYNC2I2 DYNC2H1 SCNN1G YWHAE CPOX TTR SCNN1A TMEM231 WIPF1 FOXI1 EIF2AK3 MAFB HNF1A WAS VIPAS39 IFT140 CCND1 INS KLF11 PAX4 MT-ND1 ABCC8 MT-TF LMX1B B2M NUP133 GCK FGA HPRT1 TMEM216 MT-CO3 DYNC2LI1 NLRP3 GLA IFT172 TREX1 MT-TQ CEL HNF4A UMOD TPRKB TP53RK MT-CO1 DYNC2I1 PAX6 FAM20A PAFAH1B1 CEP120 IFT80 MT-TS2 TTC21B COL4A6 ALG1 MT-ND5 ADA2 TMEM67 SEC61A1 NPHP1 ZNF423 TMEM138 INPP5E COL4A1 MMACHC TMEM237 LAGE3 SLC2A2 MT-ND6 SCARB2 OSGEP COL4A5 APPL1 WDR4 MEFV MT-TW PDX1 MT-TL1 KCNJ11 PRODH WDR19 WFS1 MT-TH NEUROD1 MT-ND4 WDR73 KCNJ10 MYH9 CEP290 NUP107 BLK PRDX1 MT-CO2 APOA1 SLC26A4 HIC1 SAA1 HP_POLYCYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_KIDNEY_DYSPLASIA ETFA PKHD1 ALG9 TBX1 EYA1 PEX5 TRIP11 CPT2 NEK1 GP1BB MKS1 SHANK3 IFT43 ARVCF PEX12 TTC37 COMT DYNC2H1 TSC1 UFD1 TSC2 ANKS6 TMEM231 DZIP1L SKIV2L ZNF423 GANAB SIX1 NPHP3 ETFDH GLIS3 SEC24C ETFB RREB1 PKD1 ESCO2 PKD2 WDR35 TMEM107 HIRA JMJD1C CDC73 OFD1 GATA3 MKKS HP_PROXIMAL_TUBULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_TUBULOPATHY NDUFA11 ETFA NDUFS4 PMM2 NDUFB9 CLCN5 MT-ND5 NDUFAF1 NDUFAF4 LRP2 NDUFS7 CTNS TIMMDC1 NDUFAF2 NDUFV1 FOXRED1 HBB COG6 NDUFS6 MT-ND6 MT-ND1 MT-TF NDUFA1 TMEM126B MT-ND3 ETFDH NDUFAF5 NDUFS1 MT-TW NDUFS8 NDUFAF3 MT-CO3 MT-TL1 ETFB NDUFS3 MT-TQ OCRL NDUFAF8 MT-TH NDUFB11 NDUFB3 NDUFB10 SLC34A1 MT-ND4 ALDOB MT-CO1 MT-ND2 NDUFA6 NUBPL MT-TS2 NDUFV2 MT-CO2 RRM2B NDUFS2 HP_RENAL_PHOSPHATE_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_PHOSPHATE_WASTING DMP1 GNAS SLC9A3R1 SLC34A1 NDUFAF6 ENPP1 FGF23 CLCN5 PHEX SLC34A3 INPPL1 GATM EHHADH CTNS HP_NEPHROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROCALCINOSIS VPS33B ALPL CLIP2 SRCAP TBL2 CLCN5 AMMECR1 STX3 SBDS GALNT3 ATP6V0A4 SLC12A1 STRADA MYO5B SLC34A1 SLC4A1 CDC73 PIGT ABCC6 KCNJ1 HSD11B2 FAM20A BTNL2 VIPAS39 CASR SLC2A2 FUT8 INSR ELN MLXIPL TOR1A GATA3 PTH1R AGXT GNA11 BAZ1B CLPB LIMK1 FAH OCRL MEFV PIK3C2A TRNT1 ENPP1 IGF2 TBC1D24 AIRE PEX3 HLA-DRB1 MAGED2 GTF2IRD1 KCNQ1 SLC34A3 KCNQ1OT1 GTF2I ZNF687 GRHPR SRP54 HNF4A DNAJC21 COL4A3 DYNC2I2 CYP24A1 CDKN1C GCM2 MEN1 RFC2 CLDN16 HOGA1 FGF23 CLDN19 ADAT3 HP_UNILATERAL_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_RENAL_AGENESIS CIT WDR62 KNL1 PIK3CD PUF60 GLI3 MAP11 CEP63 SASS6 LMBRD1 STS ERCC6 XRCC4 NCAPD3 HNF1B CDC42 SF3B4 ERCC8 COG6 SON ALDH18A1 PYCR2 PHC1 TBX1 CEP152 MFSD2A DYRK1A ASPM COPB2 PPP2R1A PPP2R3C KIF14 STIL TNXB TAF13 MCPH1 PBX1 MBTPS2 CDK6 METTL5 WNT4 DHCR7 GDF6 PTPN11 ANKLE2 THOC6 CDK5RAP2 RTTN PRKAR1A NADSYN1 PROKR2 CTU2 KNSTRN ANOS1 GATA3 CEP135 CENPJ HP_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRITIS SLC7A7 SOX18 PKD1 NUP107 CFHR5 COL4A4 FCGR2A C1QB HOXA13 FOXP3 SPP1 COL7A1 PRKCD TREX1 CASP10 ALMS1 EMP2 COL4A3 C1QA FAS CFI PTPN22 COL4A5 CTLA4 PLG BICC1 DNASE1L3 JAK1 BNC2 ZAP70 PGM3 SHANK3 LMX1B GANAB COPA MMP1 MME RASGRP1 KCTD1 CD151 FCGR2B FBLN5 LMNB2 C1QC UMOD STAT4 MAGI2 C4A LAGE3 IRAK1 WDR19 MYCN C3 MYH9 PKD2 DGKE CD81 DNASE1 EFEMP2 XDH FASLG HP_RENAL_TUBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_DYSFUNCTION VPS33B NDUFA11 ETFA NDUFS4 GATM BCS1L SURF1 MMUT ATP6V0A4 NDUFAF1 CTNS STAT3 TIMMDC1 ATP6V1B1 EIF2AK3 NDUFV1 FOXRED1 ATP7B HBB COG6 CYP11B2 VIPAS39 CPT1A NDUFS6 NOTCH2 KYNU MT-ND1 ABCC8 HNF4A MT-TF NADK2 TMEM126B GATA3 JAG1 NDUFAF3 GNAS ETFDH PDX1 OCRL NDUFS1 NDUFS8 MT-CO3 ETFB PC COQ2 MT-TQ NDUFB10 SLC4A4 FBXL4 MT-CO1 MT-ND2 SLC34A3 NUBPL MT-TS2 PHKA2 PEX19 PMM2 PDSS2 EPG5 NDUFB9 CLCN5 MT-ND5 NDUFAF4 LRP2 SLC4A1 NDUFS7 NDUFAF2 CLCNKB NDUFB8 SLC34A1 NDUFAF6 KCNJ11 HNF1B SLC2A2 MT-ND6 MT-TN FN1 PHKG2 INS NDUFA1 MT-ND3 FAH NDUFAF5 SLC12A3 MT-TW GCK MT-TL1 NDUFS3 NDUFS2 NDUFAF8 MT-TH NDUFB11 NDUFB3 CAD RMND1 MT-ND4 ALDOB CA2 NDUFA6 CLDN16 EHHADH NDUFV2 COA8 PHEX MT-CO2 UQCC2 SCO2 RRM2B HP_PELVIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_KIDNEY RTTN BAZ1B CLIP2 LIMK1 ELN RFC2 TBL2 PUF60 FANCD2 GTF2IRD1 MLXIPL STRA6 GTF2I ZEB2 SLX4 WAC FGFR1 DYRK1A CCNQ DDX6 HP_RENAL_SALT_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_SALT_WASTING CYP11B2 MRAP SCNN1G CYP11A1 SARS2 HSD3B2 SLC12A1 MUC1 NNT KCNJ10 STAR SCNN1A KCNJ1 NR0B1 CLCNKB BSND TXNRD2 CYP21A2 CLCNKA SCNN1B MC2R CYP11B1 HP_RENAL_POTASSIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_POTASSIUM_WASTING CLCNKB SLC12A3 ATP1A1 KCNJ10 SLC12A1 KCNJ1 HP_ABNORMALITY_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERUS TP63 BNC1 WDR35 STK11 WT1 MSH6 CYP11A1 NUP107 GLI3 FSHR FOXL2 AXIN2 CXCR4 PRKAR1A HOXA13 LARS2 HNF1B TBX1 SF3B4 MKS1 DUSP6 BRCA1 SLC6A17 CDKN1B TP53 COL5A2 PIGN UFD1 ARID1B SLX4 ESR1 SEC23B NR5A1 PTPRJ GATA3 TGFBR1 PIK3CA FANCB STAT6 GREM1 CPLX1 CYP11B1 NSMF HDAC8 SEC24C TNXB SOX9 DHH COX7B HYLS1 MLH1 DLC1 NSD2 DHCR7 PTEN USF3 NDUFB11 FANCM COL1A1 PROKR2 SRY RREB1 THOC6 ITGA8 MRPS22 ESCO2 POLD1 KLLN APC PALB2 SMAD3 HIRA POLR3H RPS6KA3 SPIDR FRAS1 IRF6 B3GLCT NTHL1 FANCI AURKA LRP2 ALG9 XRCC2 GP1BB WDR11 FLI1 SMC1A CCNQ SETD5 DYNC2H1 SDHD RAD51C DYNC2I2 PMS2 AKT1 CYB5A BAX COL3A1 AXIN1 MLH3 SETBP1 BUB1 SPECC1L FGFR3 SALL1 SRC FANCE CHD7 DCAF17 MSH2 PHGDH INTU MNX1 RARB GRIP1 COL5A1 TBX3 KISS1R JMJD1C RAD51 PROK2 SMC3 BMPR1B CHRM3 WNT7A BMPR1A POLE HCCS SPRY4 NIN PDGFRL PSMC3IP GNRH1 MYRF RBM8A NDP CDC73 CYP17A1 FGF8 CTNNB1 FANCD2 COMT LETM1 DHX37 FIGLA KISS1 BRIP1 CDH1 FGFR1 TOE1 FLCN NIPBL TGFBR2 KMT2A FH PAX6 BUB1B TAC3 FGF17 ERCC4 AR SDHC ERAL1 TACR3 DYNC2I1 GNRHR FANCF COL4A6 NRAS SOHLH1 MCC DMPK HS6ST1 CCND1 MSH3 BMP15 EP300 CTBP1 ARVCF BRCA2 DCC DACT1 FGFRL1 FANCC CREBBP COL4A5 GREB1L PPP2R1A SDHB FREM2 FANCL RPS20 IFT80 STRA6 WNT4 ANOS1 UBE2T RFWD3 FANCG CLPP PLA2G2A NAB2 FANCA RAD54B MAD2L2 PLG TLR2 PTPN12 SEMA4A RAD21 PPP1R12A HNF4A HP_MENORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENORRHAGIA ITGB3 F2 GP1BA PRKACG F5 PLAU USP8 F7 SLFN14 GP1BB VWF MCFD2 ITGA2B GP9 SERPINE1 GP6 F8 FLI1 PRLR CDH23 F10 BLOC1S3 MYH9 HPS4 LMAN1 F11 HPS5 NBEAL2 F13A1 F13B HP_GONADAL_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_DYSGENESIS BNC1 GTF2H5 WT1 MPLKIP NUP107 DHH GTF2E2 FSHR PSMC3IP SOX9 NR5A1 ERCC3 RNF113A TOE1 TWNK ZFPM2 SRY MRPS22 DHX37 GATA4 BMP15 RXYLT1 ERCC2 PPP1R12A POLR3H NR0B1 HSD17B4 SPIDR MAP3K1 TARS1 VAMP7 DMRT3 WWOX HP_FEMALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_HYPOGONADISM NSMF SPRY4 CDH23 KISS1R HS6ST1 ATM AIRE CHD7 ANOS1 PROKR2 WDR11 DUSP6 AIP MEN1 FGF8 GNRH1 TAC3 PRLR ZMPSTE24 FGF17 PROK2 TACR3 KISS1 FGFR1 GNRHR BMP4 FSHB LMNA HP_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADISM RHO CLIP2 ANOS1 WFS1 PROP1 POLA1 FANCE ERCC3 GNRH1 ATRX SMARCE1 EYS BRCA1 XPC DDB2 RP2 RPGR PROKR2 PRPF4 BBS12 PDE6B IFT27 MT-ND1 DMXL2 BBS4 CTNS HFE PREPL SAG IL17RD MAGEL2 POLR3B FEZF1 DCC IFT140 CTNNB1 NRL SNRPN SLC29A3 CDH23 WT1 DHH GTF2I FANCM PPM1B NTN1 C8orf37 FANCB NDN MT-CO1 FGFR1 FANCC LSS PTCH2 SEMA3E MRPS7 SCP2 RAB3GAP1 SMARCB1 DMRT3 SLC3A1 ARL2BP RP1 SOS2 PDE4D LHB ALG1 TBL2 LHX4 BRCC3 MT-ND5 AHI1 IGF1 TWNK POMGNT1 CLRN1 XRCC2 SOS1 WDR11 GATA4 HESX1 LHCGR MEN1 HERC2 MT-ND6 ERCC5 BRAF HDAC8 FGF8 PWAR1 ERCC1 ERCC8 LIMK1 ZNF513 AKT1 BCS1L AIRE MT-TL1 PNPLA6 PCARE GJB2 DCAF17 POLG RP9 GLI2 PROK2 ARL6 STEAP3 ALMS1 MRAS KISS1R FSCN2 NPAP1 SIL1 RAD51 TAC3 DMPK SNORD116-1 CHD7 CHRNG WRN TRAF7 SPRY4 LMNA USP7 NR5A1 DHX37 CISD2 AIP EIF2S3 PDE8B MAP2K1 KIAA1549 SRY NEK2 COQ2 PMM2 BBS5 TACR3 SIX6 SEMA3A NR0B1 CERKL FANCD2 IFT88 MKRN3 SNORD115-1 GNAS ANAPC1 KISS1 TTC8 TP53 MT-TF PDE11A POLD1 SMCHD1 RGR CTDP1 PTCH1 IMPDH1 IFT172 TRIM32 BBIP1 MT-CO3 ZFPM2 ALX4 CBX2 ABCD1 BBS9 KCNAB2 SUFU POLR3A KRAS FGF17 ZBTB20 TP63 ERCC4 AHSG LEP LZTFL1 BBS10 VAMP7 GNRHR RECQL4 NSMF SOX9 BMP15 NF2 SRA1 OCA2 USH2A RPE65 AGBL5 LEPR ARHGEF18 CDHR1 RRAS BMP4 PRKAR1A NECTIN1 ELN NPHP1 GABRD FOXA2 CYP17A1 MT-TW RIT1 STUB1 ZNF408 PEX1 HGSNAT ITGB6 ANTXR1 NDNF UBE2T ERCC6 RBP3 MT-ND4 CA4 MAD2L2 AMACR HJV ABCA4 MAP3K1 TRAF3IP1 RERE MRE11 DNM1L SLC7A14 WDPCP PTDSS1 SNRNP200 ARSL TOPORS REV3L RRAS2 DUSP6 NRAS RASA2 DNAL4 HBB SEMA4A HSD17B3 IDH3A CNGB1 SLX4 POU1F1 AXL SGPL1 BBS1 RAB3GAP2 AR BBS2 HAMP GTF2IRD1 SCAPER PDE6A RFC2 PALB2 CNBP KIZ RBM28 RP1L1 ANK1 TGFB1 MGME1 BAP1 MT-TS2 SOX3 TYMP KLHL7 PHGDH GALT LRAT A2ML1 FANCI MDM2 GPR101 CRX RAF1 CAMKMT PDGFB SIM1 SNAP29 SOX2 PTPN11 SOX10 RAD51C CYB5A CYP19A1 SKI POLE PROM1 XPA BBS7 MYH3 SMAD4 MT-TH IMPG2 RIN2 HS6ST1 INPP5K CBL AHR CCDC141 MAK BMPR1B SMO PDE6G PEX6 CRB1 FMR1 TERT ATM FANCA SPATA7 CUL4B PRPF3 PRCD FSHB RDH12 ERCC2 BRIP1 CEP290 PCSK1 TULP1 SAMD9 DHX38 LAS1L SLC39A4 CCDC28B MKKS MT-TQ PRKACA GALK1 SDCCAG8 RLBP1 CNGA1 NR2E3 PRDM16 IFT74 BMP2 PRLR ZMPSTE24 FANCF PRPH2 REEP6 PLXND1 RNF216 ARL3 STS GUCA1B DMRT1 IDH3B IER3IP1 BRCA2 PWRN1 TUB BEST1 RNU4ATAC CDKN1C MKS1 PRPF31 FAM161A RRM2B PRPF6 MERTK OPA1 BAZ1B FLRT3 POLR1C ROM1 FANCL PHF6 PRPF8 LZTR1 RFWD3 FANCG CLPP PIK3CA OTX2 OFD1 PSAT1 TFR2 MT-CO2 DHDDS WWOX HP_BIFID_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_UTERUS SALL1 EP300 PHGDH DACT1 HYLS1 CREBBP HP_ABNORMALITY_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OVARY TP63 RAD51D BNC1 RAD51C CLIP2 STK11 WT1 NDNF PPARG NUP107 PALB2 FSHR EIF2B1 FOXL2 WDPCP NPHP1 PIK3CA C11orf95 LZTFL1 NR5A1 PRKAR1A LARS2 RAD51 ALMS1 DUSP6 PMS2 TRAF3IP1 KRAS FAS HFM1 IFT27 AKT1 CDH23 BSCL2 SEC23B PLIN1 CYP11B1 BBS1 GNAS NSMF FAN1 SOX9 DHH PTEN CDKN2A GTF2IRD1 GTF2I BBS10 SETBP1 USF3 MSX1 PROKR2 SRY LMNB2 THOC6 BRCA1 POR KLLN RFC2 PRKCD MSH6 TP53 PALLD NBN POLR3H SPIDR PHKA2 DMRT3 EPCAM SOX3 ESR1 LIPE GALT MLH3 PMM2 LHB TBL2 HSD3B2 NTHL1 STAG3 TWNK RELA POLG CASP10 WDR11 FLI1 CEP164 GATA4 NR0B1 EIF2B2 MEN1 SDHD SUFU FGFR2 INSR CYB5A PHKG2 CYP19A1 IDH2 LMNA EIF2B3 TTI2 C8orf37 MAP3K1 LIMK1 DICER1 ANAPC1 RASGRP1 CEP290 BBS7 AIRE CHD7 CORIN CAVIN1 PTPN11 DCAF17 RIN2 ARL6 MCM8 BARD1 EWSR1 BRCA2 MDM2 NPHP3 MT-CYB BLM MSH2 PTCH2 PROK2 FLT1 POF1B RAD50 FASLG WRN FMR1 F7 SPRY4 PSMC3IP DHX37 ATM GNRH1 BRIP1 TGFBR2 LEP CYP17A1 FGF8 EIF2B4 MMP2 FIGLA CDH1 FGFR1 MCM3AP USP8 KISS1R AKT2 TRIM32 CAV1 BBIP1 MYC CIDEC ZFPM2 CCDC28B MKKS XRCC2 CBX2 EIF2B5 BBS5 GALK1 BBS9 PAX6 BBS4 TAC3 PRLR ZMPSTE24 FGF17 PTCH1 IQCB1 MLH1 SDHC AGPAT2 ERAL1 TACR3 VAMP7 GNRHR FSHB SETD2 KEAP1 BBS12 AARS2 MMP14 DMPK HS6ST1 INVS RNF43 BMP15 DMRT1 IFT172 CHEK2 RCBTB1 PMS1 NOBOX AIP MKS1 HARS2 NPHP4 WNT10A WDR19 STOX1 DIAPH2 HNF1A BMP4 IDH1 BAZ1B SDHB ELN FOS PRKN ANTXR2 SDCCAG8 CTNNB1 ANOS1 MRPS22 B4GALNT1 PLG LEPR TTC8 MSH3 SMAD4 PPP1R12A OPCML MRE11 OFD1 KISS1 BBS2 WWOX WNT4 HP_OVARIAN_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CYST CLIP2 STK11 F7 PPARG NR5A1 DHX37 CYP19A1 PRKAR1A SRY ALMS1 CYP17A1 MMP2 BSCL2 SEC23B PLIN1 CYP11B1 PIK3CA MAP3K1 AKT1 GNAS SOX9 AKT2 CAV1 WT1 DHH GTF2IRD1 CIDEC GTF2I USF3 CBX2 MSX1 LMNB2 PTEN POR KLLN RFC2 PRLR SDHC AGPAT2 PHKA2 SOX3 ESR1 LIPE SETD2 LHB TBL2 MMP14 HSD3B2 NTHL1 LMNA DMRT1 NR0B1 SDHD ATM CYB5A PHKG2 STOX1 HNF1A INSR BAZ1B SDHB LIMK1 ELN FOS ANTXR2 CORIN CAVIN1 MSH3 MT-CYB FSHR OFD1 FLT1 HP_UTERINE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UTERINE_PROLAPSE COL3A1 COL5A2 SMAD3 RPS6KA3 COL1A1 COL5A1 HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE TP63 BNC1 NPM1 ANOS1 NDNF PPARG NUP107 CDKN1A FSHR PROP1 EIF2B1 FOXL2 GP1BA ZBTB16 NR5A1 HESX1 GNRH1 LARS2 SMARCE1 ALMS1 DUSP6 AIP LHX4 STAT5B FGF17 FLI1 HFM1 STAT3 PROKR2 HPS4 CDH23 ERCC6 ESR1 PLIN1 POU1F1 HFE AXL CYP11B1 AGGF1 IL17RD WT1 FEZF1 F8 MAGEL2 GNAS NSMF HDAC8 SNRPN DHH ROBO1 SLC29A3 PSMB8 FANCM PML GP9 WDR11 SMCHD1 H6PD CAV1 ITGA8 MRPS22 BCOR MSTO1 SLC25A13 NDN FGFR1 SERPINE1 BLOC1S3 BSCL2 BAP1 TBL1XR1 POLR3H SPIDR PHKA2 SMARCB1 F13B BPTF DMRT3 GP1BB NIN PRKAR1A LIG4 LIPE PDE4D LHB SYCE1 GPR161 CDKN1B HSD3B2 USP8 VWF STAG3 POLG RARA GPR101 GDF9 PDGFB SMC1A GATA4 SETD5 EIF2B2 MEN1 F10 SIM1 HERC2 CYB5A PHKG2 CYP19A1 FGF8 PWAR1 CDON EIF2B3 ERCC8 FGA PRKACG F5 AKT1 ITGB3 CHD7 FGG PSMC3IP CAVIN1 PTPN11 TRMT10A GLI2 PROK2 MCM8 HS6ST1 KISS1R NPAP1 MYH9 F11 CCDC141 TAC3 SEMA3A SMC3 BMPR1B POF1B SNORD116-1 SMO WRN PEX6 WNT7A CTDP1 TRAF7 F7 BBS9 TERT SPRY4 DCC TWNK PAPSS2 TBL1X NABP1 TACR3 WIPF1 LEP CYP17A1 CDKN2C WAS EIF2B4 DHX37 MKRN3 FSHB SNORD115-1 FIGLA FMR1 GNRHR F13A1 STUB1 PCSK1 NR3C1 TKT AKT2 CDKN2B PSMD12 CIDEC FGB ZFPM2 MSH5 SRY EIF2B5 NIPBL POR PRLR KMT2A SUFU BMP2 OCA2 ZMPSTE24 ITGA2B AR NR0B1 AGPAT2 CISD2 ERAL1 VAMP7 DNM1L SOHLH1 F2 SETD2 HMGA2 ARMC5 SOX9 LMNA BMP15 NF2 SRA1 RNF216 RCBTB1 NOBOX PWRN1 SOX10 GFI1B NUMA1 MCM9 HJV HARS2 LMAN1 HPS5 HSD17B4 DIAPH2 SEMA3E GHR GALT SOX3 PLAU FOS FLRT3 FIP1L1 ESR2 FOXA2 SLFN14 PLAG1 MCFD2 PEX1 WNT4 ANTXR1 GP6 NBEAL2 CLPP IGF2 ATP7B CDKN1C LEPR PIK3CA OTX2 RAD21 MAP3K1 IRF2BP2 TFR2 KISS1 WWOX HP_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMENORRHEA TP63 BNC1 ANOS1 NDNF PPARG NUP107 CDKN1A FSHR PROP1 EIF2B1 FOXL2 NR5A1 HESX1 GNRH1 LARS2 SMARCE1 DUSP6 LHX4 FGF17 HFM1 PROKR2 CDH23 ERCC6 ESR1 POU1F1 HFE AXL IL17RD WT1 FEZF1 MAGEL2 NSMF HDAC8 SNRPN DHH ROBO1 SLC29A3 WDR11 SMCHD1 CAV1 ITGA8 MRPS22 MSTO1 NDN FGFR1 BSCL2 BAP1 POLR3H SPIDR SMARCB1 BPTF DMRT3 NIN LIG4 LHB SYCE1 GPR161 CDKN1B STAG3 POLG GDF9 PDGFB SMC1A GATA4 SETD5 EIF2B2 MEN1 SIM1 HERC2 CYB5A CYP19A1 FGF8 PWAR1 CDON EIF2B3 AKT1 CHD7 PSMC3IP CAVIN1 TRMT10A GLI2 PROK2 MCM8 HS6ST1 KISS1R NPAP1 CCDC141 TAC3 SEMA3A SMC3 BMPR1B POF1B SNORD116-1 SMO WRN PEX6 WNT7A CTDP1 TRAF7 TERT SPRY4 DCC TWNK PAPSS2 TBL1X TACR3 LEP CYP17A1 CDKN2C EIF2B4 DHX37 MKRN3 FSHB SNORD115-1 FIGLA GNRHR PCSK1 TKT CDKN2B AIP PSMD12 ZFPM2 SRY EIF2B5 NIPBL KMT2A SUFU BMP2 OCA2 PRLR AR NR0B1 AGPAT2 CISD2 ERAL1 VAMP7 SOHLH1 SOX9 LMNA BMP15 NF2 SRA1 RCBTB1 NOBOX PWRN1 SOX10 MCM9 HJV HARS2 HSD17B4 DIAPH2 SEMA3E GALT SOX3 FOS FLRT3 ESR2 FOXA2 PEX1 WNT4 ANTXR1 CLPP LEPR PIK3CA OTX2 RAD21 MAP3K1 TFR2 KISS1 WWOX HP_ABNORMAL_VAGINA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VAGINA_MORPHOLOGY CHRM3 MTM1 WDR35 SALL4 WT1 UBR1 CYP11A1 TBX3 GLI3 IL10RB BUB1B MAMLD1 NR5A1 RECQL4 POLR1C SPINT2 BCOR CYP17A1 WNT3 MKKS DHX37 FREM1 BBS1 CYP11B1 GATA3 BUB1 STAT6 KIF14 BUB3 SOX9 HYLS1 ZFPM2 IL17RC SRY ZEB2 CCDC28B DHCR7 SRD5A2 FGFR2 RSPO2 POR ITGA8 PAX6 LONP1 TP63 CEP57 NR0B1 VAMP7 DMRT3 DYNC2I1 FRAS1 COL4A6 TCTN3 JAK3 IRF6 B3GLCT HSD3B2 HOXA13 IL17RA ARHGAP31 DACT1 CCNQ GATA4 RIPK4 DYNC2H1 COL7A1 AR IL17F DYNC2I2 CYB5A COL3A1 COL4A5 DYNC2LI1 PPP2R1A TCOF1 SMAD3 FREM2 SALL1 IFT80 TRIP13 FH WNT4 INTU MNX1 POLR1D CLEC7A NAB2 ARL6 DHH GRIP1 RELA PAX3 PPP1R12A MAP3K1 TRAF3IP2 KIF7 NR2F2 WWOX HP_DECREASED_FERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY NME8 BNC1 ZP2 CYP11A1 DNAH17 ANOS1 RPGR NUP107 DNAAF4 AMH FSHR PROP1 FOXL2 SOHLH1 NR5A1 CATSPER1 RSPH4A GNRH1 ZP1 NANOS1 CCDC151 FCGR2A ALMS1 BRCA1 SLC26A8 FGF17 PADI6 DNAH2 SYCP2 HSD17B3 PROKR2 ERCC3 RBMY1A1 CDH23 BSCL2 SLX4 DNAAF1 M1AP PANX1 CCDC114 CTNS PLIN1 POU1F1 AXL CYP11B1 IL17RD FEZF1 MAGEL2 FANCB CFAP298 AR GNAS PPP2R3C SOX9 SNRPN TSPY1 CCDC103 BTG4 GBA2 ZMYND10 FANCM HFE CCNO SRY DNAAF6 DNAI1 H6PD NDN PALB2 LRRC6 AMHR2 GAS2L2 ARMC2 PMFBP1 STK36 POLR3H CFAP43 NEK10 SPIDR XRCC2 CCDC65 DMRT3 SUN5 WT1 LHX4 RSPH1 HSD3B2 GAS8 FANCI SEPTIN12 CFTR DNAL1 GATA4 HESX1 DNAH11 TGFB1 MEN1 GTF2H5 SIM1 DNAH9 CFAP58 PTPN11 HERC2 TEX14 RAD51C CYB5A BRAF FGF8 PWAR1 DNAI2 CEP112 TSGA10 SETD2 CATSPER2 CCDC8 FANCE DNAH1 TLE6 GLI2 CFAP70 AK7 DDX3Y HUWE1 MNS1 TBX3 HS6ST1 FOXJ1 NPAP1 OFD1 BLM RAD51 QRICH2 CCDC141 DAZ4 SNORD116-1 STRC DNAAF3 WRN DNAAF5 CHRM3 SPAG1 CFAP300 PSMC3IP DCC CYP19A1 DHX37 DNAH5 FANCA TTC12 MAP2K1 PLCZ1 CHD7 SEMA3A CYP17A1 FANCD2 CCDC40 LHCGR HYDIN MKRN3 FSHB PATL2 DZIP1 SNORD115-1 FIGLA CFAP65 GNRHR TUBB8 BRIP1 STUB1 DAZ2 CEP19 LRRC56 NR3C1 WDR11 USP8 MPLKIP BRDT SPATA16 DUSP6 APC2 ZFPM2 CFAP221 SRD5A2 RSPH3 WEE2 CFAP251 SPEF2 CUL7 POR PRLR DRC1 OCA2 ERCC4 RSPH9 FSIP2 NR0B1 KLHL10 VAMP7 FANCF DNAAF2 TRIP13 NSMF ZP3 DMPK PGR RNF216 TTC25 SRA1 MEIOB GCM2 OBSL1 CFAP44 BRCA2 PWRN1 AIP ARMC4 ADGRG2 SOX10 BMP15 NSD1 PNPLA6 FANCC AURKC HJV FGFR1 TACR3 DAZ3 DNAJB13 AGPAT2 SEMA3E USP9Y DAZ1 C11orf80 TEX11 DNAH8 GALT SOX3 FLRT3 FOXA2 SPRY4 LMNA FANCL NDNF UBE2T MRPS22 RFWD3 PROK2 MCIDAS MEI1 FANCG RAF1 DHH TTC29 MAD2L2 OTX2 CCDC39 CDC14A MAP3K1 KISS1R WWOX HP_VAGINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_ATRESIA POR ITGA8 FGFR2 WT1 ARL6 KIF14 WNT3 GRIP1 FREM2 CCDC28B DYNC2LI1 BBS1 FRAS1 GATA3 MKKS RSPO2 HP_OVARIAN_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_GONADOBLASTOMA DHX37 GATA4 WT1 SOX9 NR5A1 ZFPM2 SRY NR0B1 MAP3K1 VAMP7 DMRT3 WWOX HP_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOBLASTOMA MAP3K1 WT1 IGF2 DHH SOX9 NR5A1 KCNQ1 ZFPM2 KCNQ1OT1 SRY CDKN1C DHX37 GATA4 PAX6 AR NR0B1 VAMP7 DMRT3 WWOX HP_APLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_UTERUS TP63 WNT7A CPLX1 FGFRL1 CYP11A1 LETM1 ARID1B DHX37 TOE1 AR WNT4 NSD2 CTBP1 MYRF GATA3 RBM8A PPP2R1A HP_WIDE_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_MOUTH KCNMA1 CLIP2 RPS6KA3 SOX4 TCF4 MGAT2 AP4M1 STRADA PTDSS1 ATRX SF3B4 QRICH1 MKS1 AP1S2 ARID2 SH3PXD2B CD96 TWIST2 PIGN DPYD MTOR HNRNPH2 MED13L ARID1B MAPK1 PSPH MBD5 SRCAP ANKRD11 LIG4 KDM3B FAM20C GTF2IRD1 ARID1A GTF2I SETBP1 AP4B1 AP4E1 SEC23A KCNJ8 TRRAP RFC2 TRIP12 ZNF148 NALCN GATAD2B KCNH1 AGA IFT140 MED13 GPC3 TBL2 PGAP1 ALG9 SNRPN GPC4 GLB1 ZMIZ1 SMARCE1 MED12 ADNP PACS2 ERLIN2 KDM6B STAG1 SMARCA4 ATP6V1B2 SSR4 KCNK4 SMARCB1 ACTB PPM1D INSR LIMK1 SET SALL1 TMCO1 CDK19 SMARCA2 UBE2A SNIP1 OFD1 ADAMTSL2 ATIC TMEM70 DHCR7 IRX5 ADSL LARP7 NRXN1 PACS1 PIGB POLR1C DPF2 ABCC9 PMM2 TTC37 CUL4B NXN ASXL3 SETD1A RAF1 WDR73 ATP10A GALNS SOX11 SYNGAP1 FLCN ACTG1 BRPF1 HDAC6 ACTL6B PIGL HECW2 UBE3A SMARCD1 DDX11 AP4S1 WAC KCNN3 TMEM67 PIK3CA B3GLCT MAP2K1 ADAT3 CENPF NONO WDR4 ZSWIM6 UBE3B NSUN2 GNS SLC12A2 PIGY HUWE1 CDC42 DACT1 KAT6A ROR2 RAI1 TCOF1 AUTS2 RALGAPA1 TALDO1 BAZ1B RNF113A ELN TASP1 ZMYND11 TRIO SMARCC2 IDUA POLR1D PIGU OCA2 KLHL15 HP_ORAL_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_ULCER NOD2 SRP54 TNFAIP3 IL7R SLC37A4 MEFV ELANE HLA-B DCLRE1C ERAP1 TLR4 KLRC4 PTPRC IL23R GFI1 SLC46A1 IL10 FAS CAT IL12A SPP1 MVK CYBC1 EFL1 DNAJC21 STAT4 RIPK1 CD27 IL12A-AS1 IRAK1 RELA SBDS UBAC2 C4A ADA2 CCR1 IL10RA CD40LG TCIRG1 HP_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE WDR35 CLIP2 PPARG FKRP TPO COL11A1 WNT5A AGA ATRX SMARCE1 ABCC9 KY RPGRIP1 MMACHC MED13L GMPPB SLC35C1 RSPO2 PEX6 CEP55 IDS ZBTB24 AKT1 PEX2 FAM20C PSMB8 PTPN22 MEG3 TBX15 ARID1A NEU1 GTF2I TSPYL1 DHCR7 SETBP1 USF3 GSN FXR1 GNAI3 HYMAI COL2A1 PRKCD BSCL2 VPS13A FIBP FUCA1 LIMS2 VCP RAB3GAP1 OFD1 SMARCB1 FRAS1 FDX2 SLC6A19 TMEM107 TELO2 TBL2 GPC3 PEX5 TRIM37 SNX14 PEX26 ACTB ADPRS PEX16 TSHR PEX13 INPP5E ZFP57 RIPK4 DYNC2H1 ATP13A2 RBBP8 PIGW DYNC2I2 ATP6V1B2 MKS1 GAA PRKAG2 HRAS VAC14 C2CD3 PTDSS1 LIMK1 EDNRA RASGRP1 GATA1 CCDC47 NFASC INTU FTO FAM111A COG7 SNIP1 CDKN1C PANK2 NFIX PEX3 FZD2 DNMT3B SH3TC2 NOP56 DVL3 SLC5A5 PEX14 CHRNG PKP1 SMARCA4 NKX2-5 POMT2 TRAF7 ENG PLCB4 AIP PIGB POLR1C TMEM216 GNPTAB SMN1 LMNB2 OPTN TGDS FLNA POMT1 WNT10A EHMT1 GPC4 ALX3 LARGE1 MED25 IL6ST CRKL TCTN2 RBM10 SYNGAP1 RETREG1 PIGS AMPD2 SLC46A1 UBE3A IL36RN KCNN3 PEX10 KCNH1 EXOSC3 MAPK1 SUFU SMO TRHR RUNX2 MAN2B1 BTK NF2 COL7A1 SLC25A24 PTEN SERPING1 ASAH1 EDN1 DVL1 FOXE1 PERP PAX8 ADGRG1 RALGAPA1 SLC26A4 SLC25A21 GJB6 BMP4 SDHB KAT6B ELN FOS LIFR MMP1 FREM2 DDX59 IFT80 SRPX2 ABCC8 HNRNPK PLAGL1 TBCK TRMU GJB2 TCTN3 SCN9A MORC2 PIK3C2A LMNA KCNMA1 PEX11B GLI3 MGAT2 TSHB MTPAP REV3L CEP120 NKX2-1 PRRX1 MYMK FAS TUBB4A KIF1A VPS33A SEC23B PIK3CA TRPV3 TG KIF7 RAB3GAP2 HEXB THRA ACVRL1 DUOX2 FAM149B1 GTF2IRD1 DLK1 SLC52A3 AIFM1 VPS13B CPLANE1 KLLN CCDC22 RFC2 TRAF3IP2 PDE6D BAP1 PEX1 IFT140 B9D1 KDM5C BCR SNRPB ECM1 KIAA0753 CRPPA GPR101 CASP10 CACNA1A SOX5 PDGFB ERLIN2 SDHD FOXG1 POMK INSR AGTPBP1 SLC39A4 CHUK MCTP2 IDUA ATP1A2 DUOXA2 ELP1 PTH1R WDPCP ALS2 MYH3 CAVIN1 SMN2 ROR2 NEK1 KCNK9 GRIP1 CEP290 MT-TE NTRK1 ECEL1 FASLG TERT NRXN1 PEX12 CSNK2B TBX22 WNK1 PQBP1 POMGNT1 TMEM231 UBA1 NXN TBCD PEX19 IYD CUL4B RNF125 SOX9 CC2D2A COL11A2 RTL1 IGF2 CAV1 FIG4 SCN1A POU1F1 LMBRD1 SGCG B9D2 MBTPS2 ZMPSTE24 RERE SDHC AGPAT2 MDM4 DYNC2I1 CLIC2 FRG1 CDCA7 SLC52A2 KRT6A DMPK PLXND1 KCNJ11 TMEM67 TAF1 RPGRIP1L CSPP1 AFF4 TCOF1 BAZ1B KCNQ1 KCNQ1OT1 POP1 LAMA2 PI4KA OTX2 POLR1D RMND1 PRRT2 OCA2 ARSB HELLS HP_MACROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGLOSSIA SMARCA4 KCNMA1 NKX2-5 CLIP2 POMT2 PPARG FKRP TPO AIP WNT5A AGA TSHB ATRX GNPTAB PQBP1 SLC5A5 ABCC9 NKX2-1 POMGNT1 TSHR HRAS MED13L HNRNPK IYD IDS CUL4B VPS33A FIBP RNF125 SEC23B EHMT1 SLC26A4 GPC4 PIK3CA ZBTB24 GMPPB TG PLAGL1 HEXB THRA PTEN IL6ST PAX8 RTL1 IGF2 DUOX2 CAV1 PSMB8 MEG3 GTF2IRD1 PIGS AMPD2 DLK1 ARID1A GTF2I POU1F1 SETBP1 USF3 HYMAI KCNN3 DNMT3B SGCG KCNH1 LARGE1 KLLN RFC2 ERLIN2 SNX14 TBCK BSCL2 ATP6V1B2 TRAF3IP2 UBE3A FUCA1 LIMS2 SDHC AGPAT2 PEX1 IFT140 TRHR GPC3 FDX2 MAN2B1 CDCA7 TBL2 ACTB CRPPA GPR101 INPP5E ZFP57 KCNJ11 SDHD DVL1 FOXE1 PIGW FOXG1 POMK INSR AKT1 GAA AFF4 PRKAG2 SMARCB1 IDUA BAZ1B SDHB LIMK1 DUOXA2 ELN FOS KCNQ1 GATA1 ABCC8 KCNQ1OT1 CCDC47 POMT1 CAVIN1 POP1 LAMA2 FTO SNIP1 CDKN1C ROR2 TRMU MT-TE ARSB PIK3C2A HELLS HP_ABNORMAL_LIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIP_MORPHOLOGY WDR35 KDM1A CLIP2 NODAL NFIX UNC80 PUF60 CDH11 SOX4 HES7 PAK3 ACER3 NALCN YY1 KMT2C ADGRG6 EVC AP4M1 XYLT1 WNT5A AGA ATRX IFT122 PRMT7 KDM6A SF3B4 QRICH1 KCNH1 DMD MAP3K7 SHANK3 ABCC9 GDI1 ZFPM2 MGP SIX3 DISP1 MTOR MMACHC GPC6 CXorf56 SUMO1 KDF1 KANSL1 CREBBP IDS POGZ TRPS1 MAGEL2 B3GALT6 MAN1B1 HDAC8 ALOX12B SNRPN SLC29A3 ARHGEF6 GDF1 RIC1 ARID1A NSD2 DHCR7 NSDHL ASXL1 DSE MSX1 THOC6 NSUN2 CDT1 ACTL6A KCNJ8 SEC23A NDN RPGRIP1L WDR37 RAD21 TP63 NEB FIBP FUCA1 NFIA GLI1 NECTIN1 BPTF CYP4F22 IL1B BRF1 TBL2 DHODH LHX4 TBR1 RBMX BRCC3 ALG9 MAP11 GPC3 CHAMP1 COX7B DEAF1 ITGA7 PIK3CA SOS1 CLCF1 GP1BB UPF3B GAS1 ADNP LMX1B CCNQ SETD5 NELFA ABCC8 TXNL4A MUSK TCF4 KCNE5 HERC2 MYOD1 CPLX1 DYNC2I2 IQSEC2 PYCR2 ERCC5 MASP1 NF1 KCNK4 ACTB ORC1 VAC14 SATB2 OBSL1 NBN RAB3GAP2 LIMK1 EDNRA PTCH1 IRF6 DLL1 HRAS GRIA3 MSL3 CCDC8 SMARCA2 POMT1 ALG11 CKAP2L COG7 GLI2 DHX37 CYP24A1 EXT2 GMNN SMS SPECC1L PITX2 ODC1 YAP1 TMEM70 NPAP1 HPDL BLM DVL3 SMC3 KIF7 SNORD116-1 CHRNG PYCR1 TBC1D20 KIFBP PIEZO2 SHH NOVA2 ENG IGF1R AIP MAF COL2A1 HSPG2 MOCS1 YWHAE ADSL PUS1 NCAPG2 SIN3A PGAP2 GLUL TTC37 TGDS ATIC KMT2E COMT DYNC2H1 RHOBTB2 HMGA2 DLX4 MKRN3 SNORD115-1 MADD MARS2 MECP2 TONSL MED25 RPL10 NAA10 GLIS3 CRKL DIS3L2 UGDH SYNGAP1 FLCN HDAC6 RTL1 TDGF1 PIGS GLA WDR19 PIGL HECW2 SLC46A1 ALX4 SMARCD1 PQBP1 AP4S1 TWIST2 CNKSR2 MAP2K1 MPC1 ATP6V1B2 DYNC2LI1 ZBTB20 C12orf57 PAFAH1B1 B3GLCT PPP1CB AP4B1 PIGK GBA EHMT1 SRD5A3 EFNB1 NONO CENPJ IL1RAPL1 DLL3 HESX1 ZSWIM6 LTBP4 UBE3B AMMECR1 CANT1 RAB3GAP1 TRAPPC9 MYL2 SIX1 TRIP11 FGF8 SLC25A24 BMP2 TAF1 KCNJ2 FHL1 DVL1 NOTCH3 FRMPD4 GJA1 FOXC2 CHN1 KMT2D DDX3X ATP6V1E1 PSMD12 MDH1 METTL5 RRAS CTNNB1 OPHN1 DLK1 LBR TENM3 ZEB2 ELN PDGFRB GATA4 TAF13 SPOP RIT1 IFT80 FGFR1 IREB2 DDRGK1 ZIC2 CIT SC5D ANTXR1 CUL7 HNRNPK EPG5 DCHS1 SMARCC2 WAC TBCK LRRC32 ATP6V0A2 CWC27 TBL1XR1 FTSJ1 KNSTRN PAX3 EDA HCFC1 WDFY3 MEIS2 PPP1R12A FRAS1 RERE TMCO1 SDR9C7 LMNA SEC31A KCNMA1 TET3 KIT STK11 PGAP3 CDH1 PTDSS1 MKS1 LTBP3 SUMF1 RRAS2 DOCK7 PIGV FZD2 APC FLNA USP9X MYT1L PIGN UFD1 MAPK1 AMER1 SUZ12 NANS TRMT1 FBXO11 ACTL6B SMC1A KAT8 NUP107 RAI1 RIPK4 SRCAP LEMD3 ANKRD11 GJA5 KDM3B FOXC1 TBC1D24 SETD1B ZNF462 ALG13 MED13 OCLN INTU GTF2IRD1 ADAM22 NEK9 AP4E1 BMP1 POMT2 ESCO2 TRRAP RFC2 TRIP12 LIG4 ZBTB18 SLC25A46 AFF2 GATAD2B SEMA3E RPS6KA3 ADAMTSL1 TUBB CAST EZH2 ORC4 BCR KIF1A PMM2 SOX18 ORC6 KNL1 KCNJ6 PIK3CD DDX6 DENND5A SASS6 ERCC6 PRKDC ZMIZ1 PTPRF SMARCE1 MEF2C ERLIN2 KDM6B LRP4 SON FOXP1 CNOT3 SUFU RET CNOT1 SLC39A4 NAGA CDH2 PTRH2 SSR4 MCTP2 IDUA TTI2 INSR STRADA EXOC6B ABHD5 CCBE1 CDK13 EEF1A2 MBTPS2 TRIO RUNX2 DHX30 CHST3 SMAD4 TRAPPC4 PURA KCNN3 CPLANE1 NKX2-5 RIN2 PEX26 NEK1 BRCA1 KCNK9 GRIP1 TPM2 MRPS28 RYR1 JMJD1C CBL STAG2 FOXH1 PTCH2 FBN1 CRTAP ACTA1 EDARADD PHIP PPP2CA FMR1 WDR62 INTS1 ADAMTS3 CNOT2 CSNK2B RSPRY1 CRLF1 EGFR SREBF1 ABCA12 XYLT2 ZNF81 IFT43 SLC35A2 UBA1 DDX59 NDP CUL4B KRAS GATA6 BCOR SLC2A10 GPC4 HYLS1 CASK GREB1L PUS7 PORCN ALOXE3 PIGQ PLAA P4HTM SOX11 COL11A2 STIL MYMK ARID2 SVBP KRT17 LARP7 ACTG1 NKX2-6 SLC26A2 TOE1 ANKLE2 CDK10 ZC4H2 NIPBL KRT16 CDON HACD1 PRDM16 PIGY SLC45A1 NEU1 TFAP2A KIF11 MTX2 CLCN4 ADAT3 TWIST1 KRT6A PRKACB PPP2R5D DMPK PCGF2 MYH3 TAF6 TPM3 PLXND1 RLIM ALDH6A1 GLI3 EDAR PTCHD1 CHD7 ARVCF IER3IP1 IFT52 MESD RNU4ATAC FLI1 AVP CDC6 HDAC4 TCTN2 ZBTB16 TOR1A SYT1 AFF4 TALDO1 PPP2R3C PIGO BAZ1B CDC45 METTL23 EDA2R EP300 BRAF NSD1 WARS2 TBX1 HS6ST2 MYCN EVC2 TGIF1 POLR1D CDK5RAP2 HNRNPU FRMD4A GNE TFAP2B LFNG PIGU DCPS KLHL7 PCLO TAB2 FKRP CSNK2A1 PAH MYO18B PSAT1 ATP7A DPM1 MEOX1 PIGW RAC3 PROP1 SMPD4 MED12 NEXMIF SCYL2 AP1S2 SLC6A17 TRMT10A KMT2A PHF8 CEP152 CHST14 HNRNPH2 MED13L NRAS EYA1 ZNHIT3 MFSD2A MLXIPL SLC35C1 RSPO2 FREM1 ARX CYB5A MAP3K20 MBD5 COPB2 OFD1 FBXW11 OCRL SEC24C ADAMTS2 PSMB8 MEG3 ITGA8 CYP26C1 RPS19 GTF2I SETBP1 PTEN FGFR2 SLC35A1 COL11A1 SOS2 MIR140 OTUD6B DOCK3 AUTS2 FGF20 SNX14 ARHGEF2 NXN POR GATA5 PPP1R15B ADAM17 COL3A1 WDR26 SHOC2 PWAR1 SHMT2 RAB18 XRCC4 CNTNAP2 MCPH1 NTNG1 TCF20 UBE2A NFIB ADAMTSL2 ERCC1 RPS7 NOTCH2 MRAS TGM1 CERT1 CAMTA1 TRAF3IP2 MAB21L1 RAB11B KLHL41 PIGB POLR1C EIF2S3 GNPTAB CNTNAP1 DPF2 EIF2AK3 LETM1 DNMT3A TMEM94 ASXL3 IFIH1 WNT3 PHC1 SETD1A ALG8 EED MESP2 PDE4D ASPM SMG9 CD96 IL1RN PKDCC ERMARD COLEC10 B3GAT3 AMPD2 AGTR2 HOXB1 CTCF COLEC11 KCNAB2 ERF BCL11A POLR3A RIPPLY2 IFT57 SMO STXBP1 FLT4 CAMK2G HSD17B4 ATP6V1A EXOSC2 ZNF41 KREMEN1 KAT6A FGD1 ARHGAP31 CDC42 CDKL5 DYRK1A ALG12 TSPEAR SLC9A7 IL17F KCNJ11 DPM2 ZDHHC9 TGFB3 PIGG GABRD FOXA2 FREM2 PBX1 EXOC7 COG1 MCM5 RAPSN ADARB1 PHF21A PDHA1 PARS2 PIGT UGP2 CLTC INPPL1 KAT6B SMARCB1 CSGALNACT1 PACS1 RNF135 FOXG1 MGAT2 SULT2B1 TNNI2 REV3L ACSL4 SH3PXD2B RASA2 EXTL3 AP2M1 FLII ARID1B AP3D1 KIF15 MID1 VPS33A POU1F1 MAPK8IP3 RAF1 SNAI2 NOG ACVRL1 GRHL3 VPS13B VAX1 RREB1 MOCS2 TBCE TANC2 CCDC22 HIRA ZNF148 FLNB VPS51 DLG3 NKAP KDM5C PHGDH BCL11B ECM1 KDM5B NRXN1 A2ML1 MAFB PPP2R1A GPR101 ATN1 PAX6 PRKACA PACS2 NIPAL4 SIM1 SMARCA4 BDNF MED12L RPL5 FAT4 SKI TUBGCP2 BRAT1 SMOC1 PPM1D GAD1 PTH1R CHSY1 SET IFT81 CDK19 SELENON CLEC7A ROR2 PLOD3 ALG1 PROKR2 FAR1 NLRP1 AGL IRX5 MAP1B PRDX1 COG6 CEP135 MAP2K2 JAG1 FKTN ITCH MYH8 TAPT1 CYB5R3 CEP63 SCARF2 NCAPD3 NBAS EMC1 CC2D2A PREPL CACNA1C VPS35L CCNK SYP CILK1 MID2 CTNND1 KIF14 BUB1B PTPN11 EFTUD2 GNA14 LIPN BRPF1 FIG4 LAS1L CDK6 ZNF711 IL17RC LMBRD1 AP3B1 FBXL4 OCA2 ZMPSTE24 PAM16 SALL4 FERMT1 DYNC2I1 LARGE1 CLIC2 CLP1 TCTN3 EXT1 GNS IL17RA GALNT2 IARS2 TMEM237 HUWE1 TRAF6 CTBP1 SNRPB TSPAN7 RAB39B PWRN1 HOXD13 MCOLN1 FGFRL1 WDR4 WT1 JUP USP27X ALX3 FGF3 TCOF1 BCORL1 TASP1 HGSNAT HK1 LZTR1 RTTN ERCC2 KRT6B OTX2 MAPRE2 YARS2 EBF3 CITED2 FAM20C WNT4 MSX2 POMGNT1 HIC1 HP_NARROW_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_MOUTH NFIX APC NALCN CHSY1 TRIP4 TBX1 SCYL2 PPP1R15B TNNI2 LTBP3 SEPTIN9 LMNA PRRX1 EXTL3 TRMT10A TPM2 MYT1L CHST14 UFD1 BPTF TUBB MAPRE2 TRMT1 FBXO11 MAPK8IP3 PHACTR1 ACTL6B PIK3CA AKT1 FBXW11 PIEZO2 MECP2 TBC1D20 PIK3R2 FAM20C SEC24C RPL10 SOX6 B4GALT7 MED13 BMPR1A HSPG2 POGZ DONSON DSE GNAI3 RREB1 RSPO2 CDT1 ACTL6A ZMPSTE24 TANC2 COL2A1 COL11A2 RIPK4 TRMT5 FGFR2 ITGA3 HIRA SEMA3E NFIA SPEG GSC ALDH18A1 ORC4 BCR ORC6 TP63 DOCK3 AUTS2 DDX6 MDM2 TNNT3 COL11A1 MYH3 CLCF1 GP1BB SMAD4 ZMIZ1 LMX1B PIGN CDC6 FREM2 TXNL4A MUSK FBN1 MED12L COG1 SKI CTCF ORC1 BCL11B RYR1 SATB2 CCBE1 CDK13 NTNG1 TCF20 CHST3 EDN1 COG7 MAF RTTN SMS COL3A1 HIVEP2 DCHS1 JMJD1C DHCR24 CAMTA1 TLK2 CRLF1 DLK1 GMNN CCND2 MYBPC1 PAX3 CHRNG SH2B1 CENPT ADAMTS3 PLCB4 IGF1R RECQL4 POLR1C BPNT2 TTN SIN3A TTC37 PIGA FAT4 IARS2 EIF4A3 KMT2E COMT RLIM POLR3A FLNA MADD CDC45 POLD1 PQBP1 CRKL SVBP SYNGAP1 BRPF1 B3GAT3 GJA1 SON MEG3 MAPK1 KCNAB2 PRDM16 RTL1 ZBTB20 GBA STXBP1 MTX2 MMP1 TWIST1 AMMECR1 PCGF2 CANT1 TAF6 WNT3 ATAD3A AKT3 HUWE1 COL7A1 EP300 PAFAH1B1 NONO CHD7 SLC25A24 PTEN BMP2 ARVCF OSGEP KAT6A TCOF1 CREBBP ZBTB16 PSMD12 MED12 NOTCH2 TBX4 BCORL1 GABRD MCM5 OTX2 POLR1D SP7 ATP6V0A2 DCPS YWHAE WDFY3 PTCH1 TRAPPC4 RERE BIN1 UBE3B HP_MEDIAN_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP SHH HESX1 ZSWIM6 TDGF1 NODAL LHX4 GLI2 CDON PROP1 STAG2 PTCH1 NEK1 DLL1 FGF8 WNT5A DISP1 DDX59 TGIF1 FOXH1 SIX3 PIGN GJA1 GAS1 DVL3 POU1F1 SLC2A10 ALX3 OFD1 FOXA2 HYLS1 FGFR1 INTU ZIC2 DVL1 RIPK4 FZD2 OTX2 SMO SMC1A FAM20C TCTN3 HP_GLOSSOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSOPTOSIS RUNX2 SNRPB RBM10 EDNRA COL11A2 MYMK GNAI3 PLCB4 COL11A1 FIG4 BTK POLR1C COL2A1 PEX16 EDN1 NFASC POLR1D TGDS NFIX FLNA RSPO2 AFF4 SOX9 VAC14 TCOF1 HP_ABNORMALITY_OF_THE_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTITION LYST KDM1A KDM6A CLIP2 DSG4 NODAL UBR1 ANOS1 PUF60 TRAK1 CDH11 SOX4 NALCN WNT10A YY1 EVC CXCR4 XYLT1 CHD3 WNT5A AGA TNFRSF11B ATRX IFT122 DSP KCNH1 DMD MAP3K7 SHANK3 GDI1 SLC1A2 FAM20A SIX3 DISP1 CEP152 XPC DDB2 RTEL1 PROKR2 KDF1 KANSL1 CREBBP IDS TRPS1 IL17RD LIG4 POLR3B FAM20C HDAC8 ALOX12B BMP4 ARHGEF6 PEX6 RIC1 SPART CENPJ KCTD1 ITGB4 NSD2 DHCR7 PAX1 CBS PIK3R1 MMP20 AMTN DSE MSX1 GNAI3 FGFR1 THOC6 ACTL6A SEC23A LAMA3 WHRN C8orf37 CLDN1 TP63 USH2A EP300 STAT3 GLI1 NECTIN1 CEP85L LAMB3 BPTF CYP4F22 GDF5 ROR2 FGF10 PDE4D BRF1 TBL2 DHODH FBN1 GABRA2 FAM111A GPC3 KRT14 DEAF1 ZMPSTE24 COL2A1 GLB1 GP1BB UPF3B WDR11 GAS1 ADNP ADGRV1 SETD5 NELFA HESX1 RUSC2 COL1A2 TCF4 KCNE5 HERC2 MYOD1 NHP2 IQSEC2 LAMC2 MASP1 NF1 BRAF FGF8 ORC1 ERCC1 MSX2 VAC14 SATB2 OBSL1 AXIN2 ERCC8 LIMK1 EDNRA PTCH1 IRF6 DLL1 GRIA3 CLCN7 CCDC8 ATP6V1B2 DCAF17 GJB6 PLK4 CACNA1A DHX37 TANC2 RDH11 ALPL LBR SMS PITX2 WDR73 CENPE NPAP1 SNX10 ENPP1 YWHAG GFPT1 DVL3 SMC3 KIF7 POF1B DKC1 SNORD116-1 TNFSF11 DPH1 CHRNE KIF1C SHH DCC AIP MAF HSPG2 SIN3A EDARADD SEMA3A PIGA EIF4A3 KMT2E COMT KCNB1 HRAS FGF23 PDZD7 HMGA2 DLX4 MKRN3 SNORD115-1 ANAPC1 MECP2 PCDH15 DLG1 ASPH POLD1 SMCHD1 RPL10 PAX9 AARS1 TECPR2 RUNX2 GRIN2D FLCN TDGF1 COL1A1 PIGS CAT WDR19 PIGL ODAPH ALX4 SOS1 UBE3A SMARCD1 PQBP1 TWIST2 AHCY RAB23 CNKSR2 DYNC2LI1 CTSC C12orf57 TNFRSF11A B3GLCT PPP1CB GLI2 ERCC2 PIGK EHMT1 CD247 EXT2 ABCA5 ESPN NHS TACR3 EFNB1 GNAS AKT1 NONO IL1RAPL1 GTF2H5 NUS1 UBE3B SLC25A24 NSUN2 AMMECR1 COL7A1 TCIRG1 KCNQ1OT1 TRIP11 AEBP1 LGI4 H19 NDUFB11 ROGDI NSD1 KCNJ2 DVL1 EVC2 NOTCH3 FRMPD4 GJA1 TTC7A FLNB KMT2D ATP6V1E1 PSMD12 NDN ARID1A LTBP3 ZEB2 VDR RNF113A ELN ENAM PDGFRB LIFR STAG1 FLNA SLC39A13 GABRA5 NTRK1 NOP10 FGF3 OCRL ZIC2 ANTXR1 HNRNPK DCHS1 SMARCC2 C1S ATP6V0A2 ERCC4 HCCS WDR35 SLC29A3 SLC24A4 TBL1XR1 SOX18 FTSJ1 EDA LMNA HCFC1 WDFY3 MEIS2 FRAS1 KISS1R TMCO1 SDR9C7 SNRPN POC1A KCNMA1 SRP54 INSR TBX3 CDH1 NTRK2 ERCC6 PTDSS1 ZNF469 MKS1 FGF17 APC NECTIN4 USP9X MYT1L NUP133 UFD1 RMRP CYP27B1 MAPK1 AMER1 POLR3A TRMT1 ACTL6B GABRB2 TERT FEZF1 LEMD3 ANKRD11 POLR2A HMGB3 FOXC1 MED13 GTF2IRD1 SZT2 DNAJC21 ORAI1 NAA10 IKBKG STXBP1 TPRKB SEC24D DMP1 RFC2 HEPHL1 DPP6 RBM28 TGFB1 RAI1 RPS6KA3 ADAMTSL1 PRKAR1A ANKRD55 ATR PGAP1 DDX6 RNF13 PPIB SMARCE1 TBCE KDM6B LRP4 HCN1 CDK19 SUFU GHR PTPN11 CNOT1 FGFR2 FAM83H SSR4 MCTP2 FOXE3 PTH1R DSPP TTI2 SMAD3 PTPN2 CCBE1 SETD2 MBTPS2 TRIO NEPRO KRT5 CHST3 CCR6 ACVR1 PURA KRT83 RIN2 NEK1 BRCA1 FGFR3 KCNK9 GRIP1 COL5A1 KRT17 HS6ST1 PLEKHM1 TRAIP JMJD1C GREM2 FOXH1 PTCH2 ZMIZ1 NPHS1 USH1G GALNT3 ADAMTS3 CNOT2 SPRY4 ERCC3 RSPRY1 PCYT1A CRLF1 DOCK7 ZNF81 TWIST1 DDX59 CUL4B NRAS STX16 MYSM1 ALDH3A2 BCOR TBCD NSDHL EBP PUS7 PORCN HBB USB1 ERCC5 SOX11 SVBP ACP4 SH3BP2 AGXT CCDC28B CDK10 NIPBL KRT16 SON CUL7 DLX3 CDON NKX2-1 SOX5 LONP1 TFAP2A MTX2 TARS1 CTSK CLCN4 ADAT3 BLM ALG13 KRT86 TINF2 ELANE PRKACB PCGF2 SLC13A5 MYH3 TAF6 PLXND1 COX7B MED13L RLIM STAG2 GLI3 EDAR PTCHD1 EFL1 CHD7 TGFA ARVCF IGF2 IFT52 MESD SOX10 SERPINH1 CYFIP2 PLG GUSB PPP2R3C NFIX BAZ1B EDA2R POLR1C EEF1A2 PRKD1 ANTXR2 SH3PXD2B PROK2 TGIF1 POLR1D CA2 TMEM231 GNRH1 CNNM4 COL17A1 ITGA6 OCA2 TAB2 P4HB GATAD2B TRAPPC4 PHEX CLDN19 FARS2 KISS1 DHDDS ABL1 IFT43 ARV1 LRP5 STAT4 ITGB6 GFI1 MED12 TBX1 LRP6 GABRG2 ARID2 AMELX TRMT10A TENT5A CTNND1 MLXIPL SLC35C1 BBS4 MBD5 NECAP1 B3GALT6 FBXW11 CPLX1 RBBP8 SEC24C ADAMTS2 MYO7A TBC1D24 GTPBP2 GTF2I SCN8A SETBP1 COX4I2 DUSP6 SEMA3E ANKH CREB3L1 COL11A1 RAB3GAP1 SMC1A RPS23 TSC1 DOCK3 IGF1 TRIM37 SNX14 DDR2 SPECC1L ALKBH8 NXN FUCA1 RIPK4 WNT10B PPP1R15B CDH3 COL3A1 WDR26 SHOC2 SFRP4 PWAR1 C2CD3 WDR4 MPLKIP AIRE NTNG1 TCF20 SCN3A CCDC47 INTU KCNA2 CIB2 SMARCAL1 CTC1 ARL6 LOX NOTCH2 ALMS1 FZD2 CERT1 CAMTA1 CSTB ARHGAP29 TRAF3IP2 KLK4 LARP7 ALOXE3 RECQL4 SMOC2 PLCB4 PCNT EIF2S3 PLEC MAP2K1 DPF2 SUMO1 TERC PAK3 EIF2AK3 PRDM5 JUP LETM1 FAT4 DNMT3A ASXL3 IFIH1 SETD1A OFD1 KAT6B IL6ST STIM1 B3GAT3 PEPD AGTR2 NFKBIA KCNN3 CTCF PTEN TP53RK TAC3 IFT57 TFAP2B SUOX GNRHR NSMF SYNJ1 IDUA ATP6V1A NPM1 PEX1 SLC12A2 MAN2B1 ZNF41 KREMEN1 FGD1 FERMT1 CDC42 TSPEAR SLC9A7 ACP5 IL17F PERP KMT2C UBA5 OSGEP DPM2 CXorf56 ZDHHC9 IL2RA PIK3C2A MMP1 FREM2 CCN2 NDNF C1R SLC10A7 PIGT AMBN GJB2 SP7 DNM1 RAD21 HOXD13 SMARCB1 KRT6A NGF PACS1 RSPO1 TMEM165 HSPA9 RELT CHSY1 MGAT2 GORAB SULT2B1 TONSL REV3L ACSL4 CEP120 ELMO2 ZNF341 COG6 COL5A2 ATRIP FLII ARID1B SBDS MAPRE2 KIF15 TGM1 MAPK8IP3 CKAP2L TRPV3 EXT1 RAB3GAP2 THRA SOBP GRHL3 B4GALT7 GTF2E2 CAV1 ZSWIM6 VPS13B RREB1 IL2RB SGMS2 ITGB2 PTHLH HIRA VPS51 DLG3 CDH23 IFT140 KDM5C BCL11B CLTC ACD FKBP10 EYA1 NARS1 GPC4 GPR101 USH1C PRKACA NIPAL4 SNAP29 SMARCA4 SYNGAP1 MMP2 TUBGCP2 XPA BMP2 MMP13 GPR68 SET CYP2R1 EDN1 AIMP2 CLEC7A ACOX1 WDR72 WRAP53 SMOC1 MAGEL2 IRX5 CCDC141 CTDP1 IFITM5 SCARF2 SOST FGF12 CACNA1C PYROXD1 SYP BBS1 CILK1 SMARCA2 MID2 GALNS DALRD3 UROS SKI LAS1L LIPN FIG4 APC2 ZNF711 IL17RC PPP3CA AP3B1 AP3B2 KMT2A PARN BANF1 KRT81 KRAS PTPN22 IL17RA XRCC4 HUWE1 TRAF6 CTBP1 SNRPB TSPAN7 RAB39B PWRN1 MADD KAT6A MCOLN1 RHOA FGFRL1 LAGE3 WWOX DYRK1A CACNA1B USP27X ARX ALX3 PLOD1 SIX1 TBX4 TCOF1 BCORL1 HLA-DRB1 IRF5 FLRT3 IL11RA GRHL2 ADAMTS10 POP1 HK1 PARS2 ABCA12 KRT6B NUP107 HP_ABNORMALITY_OF_THE_GINGIVA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GINGIVA LYST KCNMA1 CLIP2 SRP54 NPM1 CDKN1A SAMD9 GFI1 MGAT2 GP1BA GORAB CXCR4 TERC ZBTB16 WNT5A AGA DSP PRMT7 RMRP KCNH1 FGB REST ALMS1 ABCC9 SH3PXD2B STAT5B ELMO2 EXTL3 FAM20A USP9X F8 STAT3 RTEL1 ZNHIT3 SLC35C1 CTSC SBDS TRPV3 PLAGL1 TERT C1S C1R OCRL FAM20C TBC1D24 ADAMTS2 SLC29A3 B4GALT7 GTF2IRD1 NCF2 NEU1 GTF2I PML GP9 SETBP1 FGG VPS13B HYMAI SERPINF2 ANTXR2 IL18BP BCOR RFC2 BLOC1S3 ITGB2 GNAQ SLC17A5 TBL1XR1 F13B GP1BB HPS1 TSC1 KIF1A CYBC1 TBL2 KCNJ6 ECM1 CDKN1B DDR2 RARA NXN PIGN F10 LBR CYBA INSR ATP6V1B2 COL3A1 DVL3 MMP2 KCNK4 DHCR24 NCF1 VAC14 DVL1 LIMK1 FGA CCBE1 ITGB3 JAK2 MMP14 SMAD4 KCNN3 AIMP2 RIN2 ROR2 CTC1 NFIX WRAP53 DHCR7 FZD2 NHP2 MAP1B DKC1 KIF23 F7 ADAMTS3 GBA CNTNAP1 NABP1 WIPF1 SLC6A19 KIF7 PIGA EMC1 CDKN2C WAS MYSM1 HYLS1 IDS F13A1 CD96 USB1 PRKAR1A IFNG CDKN2B FIG4 PIGS CAT ZEB2 ABCA5 AP3B1 SC5D OSTM1 MEN1 MBTPS2 PARN FGFR2 ITGA2B NOTCH3 F5 FERMT1 GNPTAB TCTN3 F2 IDUA TINF2 ELANE KRT6A MAN2B1 SOS1 AEBP1 IER3IP1 CYBB FAT4 PLG NUMA1 PERP WDR26 LMAN1 IRF9 GUSB RALGAPA1 CD40LG FGF3 KLLN NOTCH2 MYD88 BAZ1B GLB1 ELN FIP1L1 MPL TET2 NTRK1 NOP10 MCFD2 PDGFRB SCARB2 TBCK PRF1 TSC2 FCGR2C NCF4 IRF2BP2 NGF TCIRG1 TMCO1 HP_GINGIVAL_FIBROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_FIBROMATOSIS TSC1 CDKN1B IFNG CDKN1A CDKN2B PDGFRB SOS1 ABCA5 KCNH1 REST ANTXR2 KCNN3 ELMO2 MEN1 CDKN2C TSC2 ATP6V1B2 NOTCH3 DHCR24 FAM20C HP_MICROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGLOSSIA MYMK PTDSS1 RBBP8 ECM1 GLI3 PLCB4 PRRX1 DHCR7 TRIM37 TBX15 SMO NEK1 LMNB2 EDN1 GNAI3 OTX2 BMP4 HP_ABNORMALITY_OF_THE_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UVULA TP63 FKTN NODAL PIGW CDH11 GLI3 PGAP3 SMPD4 KMT2C XYLT1 PTDSS1 BRCA1 BCOR COL11A1 DISP1 STAC3 PIEZO2 SLX4 AMER1 LARGE1 TGIF1 SIX3 RXYLT1 TGFBR1 SELENOI FANCB KIF14 FLNA KCNK9 IRF6 FANCM GNAI3 SEC23A PALB2 SETD5 SMAD3 ALG3 POMT1 CRPPA SPEG B3GALNT2 SMC1A TGFBR2 IFT140 ORC4 SHH PHGDH GLI2 SNRPN FANCI EYA1 XRCC2 NXN CDC6 SON TXNL4A STAG2 TBX1 MAP3K7 FGFR2 RAD51C USP9X ATP6V1B2 HYAL1 GRHL3 RPL5 HAAO CDON POMT2 PIGV RYR1 SHMT2 RNU4ATAC POLA1 PTCH1 PIGL DLL1 GAS1 PGM1 FANCE SMAD4 CDT1 EDN1 KCNN3 FTO SATB2 ROR2 SPECC1L DHCR24 RAD51 FGFR1 FOXH1 ZIC2 GMNN TDGF1 PLCB4 POMK RECQL4 TBX22 TTN DDX59 PGAP2 KIF7 TTC37 EIF4A3 FANCD2 HNRNPK HYLS1 BRIP1 COL4A1 COL2A1 SMCHD1 BGN ZEB2 KCNH1 UBB PIGY FGF8 WDR35 ORC6 ERCC4 FANCF TCTN3 TBCE AMMECR1 AEBP1 SERPING1 BRCA2 POMGNT1 FANCC DDX3X B4GALT7 SMS DLK1 BMP4 SIX1 PIGO TGFB3 CDC45 KAT6B SLC39A13 FANCL DAG1 FKRP TGFB2 UBE2T RFWD3 FANCG FANCA ORC1 TMEM231 MAD2L2 POMGNT2 MEG3 B4GAT1 SMARCD1 PSAT1 RTL1 BIN1 HP_ABNORMAL_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALATE_MORPHOLOGY NODAL NFIX PDHX CDH11 SOX4 HES7 GNB1 FOXL2 AP4M1 SF3B4 SHANK3 BRCA1 KCNA1 PROKR2 TUBB PEX6 ARCN1 CEP55 TGFBR1 POGZ TRPS1 IL17RD FGFR2 SIK1 AKT1 B3GALT6 BMP4 GLI3 NSD2 DHCR7 CBS ASXL1 SMAD3 GNAI3 HYMAI TNNI2 ACTL6A NEB STAT3 B3GALNT2 MSTO1 KCNH1 IL1B TMEM107 EPG5 DHODH LHX4 DGCR8 GPC3 CDON PEX5 DEAF1 PEX26 ZMPSTE24 XRCC2 SOS1 GP1BB NELFA COL6A3 PYCR2 EYA1 CARS1 ALX4 HAAO BRAF MSX2 SATB2 NBN PTCH1 DLL1 GRHL3 MYH3 GRIA3 MBTPS2 SCN1B PTPN11 NFASC CHRNE TGFB2 POLR1B GMNN LAGE3 ODC1 CFL2 HPDL RAD51 GFPT1 DVL3 SMC3 KIF7 CHD7 SEMA5A DPH1 TBC1D20 VAMP1 PIEZO2 ENG IGF1R POMK TWNK SELENON COL2A1 HSPG2 RBM8A SIN3A SEMA3A TTC37 TMEM216 KMT2E FANCD2 RLIM MKKS DLX4 WNT7A DLG1 MYH7 ALX3 SMCHD1 MCM3AP CRKL BUB3 RUNX2 EIF2AK3 SYNGAP1 FLCN RTL1 TDGF1 COL13A1 AP4S1 RB1 RAB23 PEX2 ACBD5 B3GLCT PPP1CB GLI2 AP4B1 ERCC5 PEPD EFNB1 NONO ACTB HESX1 GTF2H5 UBE3B RBM10 NSUN2 PGAP2 MYL2 LRP12 ACTA1 HS6ST1 HDAC8 CEP120 PHF8 SERPING1 TAF1 KCNJ2 POMGNT1 LAMB2 TBX1 GJA1 CHN1 FLNB KMT2D SHOX DDX3X ATP6V1E1 PSMD12 TRPV4 ARID1A B4GALT7 TP63 GEMIN4 ZEB2 SDHB NECTIN1 COL11A2 RIT1 FGFR1 MYPN PRMT7 DAG1 ANTXR1 HNRNPK DCHS1 RPL5 SLC35D1 IGF2 MAD2L2 FGF9 CD79A WDFY3 FRAS1 SELENOI TMCO1 TET3 FLNA PGAP3 DOK7 MKS1 RRAS2 PIGV PRRX1 FGF17 CD96 PAX3 PIGN UFD1 B9D2 TPM3 TRMT1 SEC23B TUBB6 SMC1A NUP107 FEZF1 DIS3L2 ANKRD11 PLAGL1 TBC1D24 MED13 ADAM22 ALG2 ESS2 AP4E1 ESCO2 PALB2 ELN TRIP12 ANK1 PDE6D SLC25A46 FBN2 CRPPA SEMA3E DST B9D1 XYLT1 BCR KIF1A ATR COL6A2 GATA1 ERLIN2 LRP4 SDHD CNOT1 INSR CDH2 EXOC6B IRF6 CEP41 TRIO DHX30 CHST3 PURA KDM5C KCNK9 GRIP1 TPM2 FAM50A RYR1 JMJD1C CBL PTCH2 TLK2 RPL27 COL12A1 PPP2CA PEX14 ZIC2 SLC25A1 CRLF1 FOXH1 KRAS SIX3 FGF8 SHH NSDHL ARNT2 SPECC1L GREB1L RPL26 SOX9 PLAA ZC4H2 NIPBL HERC1 SON CCBE1 FOXE3 KBTBD13 ABCC6 HACD1 PEX3 PIGY RPS7 WDR35 TGFB3 TFAP2A RAI1 ORC6 COLQ MTX2 COL9A3 PCGF2 HMGA2 PEX16 TAF6 YAP1 GNPAT MED13L NPHP1 COL11A1 ALDH6A1 PAX1 MESD WDPCP TCOF1 FLI1 IBA57 CPT2 COL6A1 RPGRIP1L AFF4 STAC3 PIGO CDC45 ARX H19 SLC18A3 FANCL EBP HNRNPU ORC1 TGIF1 GNE CDKN1C PIGU FKBP14 TNNT3 RIN2 KLHL7 PCLO STAMBP CSNK2A1 TBX4 GATAD2B PSAT1 ATP7A ABL1 MEOX1 PIGW FOXE1 SMPD4 COX6A2 KIAA1109 FGFR3 SEPTIN9 TSR2 TWIST2 IGBP1 KMT2A CHST14 RPGRIP1 GDF6 HNRNPH2 LARGE1 CPLX1 OCRL DLG3 CLCF1 RPS19 SETBP1 PTEN USF3 BCOR AGRN SLC17A5 CHRNA1 TELO2 FGF20 SNX14 DDR2 ALX1 WNT4 SCN4A ARHGEF2 SLC25A22 RIPK4 CDC6 CREBBP ATP6V1B2 UPF3B SHOC2 DHCR24 CASK SHMT2 C2CD3 SLC26A2 WASHC5 MTM1 HERC2 PEX1 CCDC47 GJB2 ENPP1 COL1A2 RNASEH1 ARL6 LOX PROK2 CHRNB1 CDKL5 ARHGAP29 TTN CHRNG RECQL4 SPRY4 MAT2A POLR1C EIF2S3 TMEM67 DPF2 PMM2 GMPPB PRDM5 SPRED1 LETM1 COL4A1 GPC4 BLNK IL1RN FOXC2 KISS1R TRIP4 COLEC10 NLRP3 PEX7 DDX11 PGM3 MFAP5 CTCF RIPPLY2 DMXL2 KATNIP ERCC4 ANOS1 DGCR2 SRY GNRHR NSMF HSD17B4 ATP6V1A KAT6A FGD1 ARHGAP31 POLR1A PAFAH1B1 MEG3 OSGEP MAP3K7 DPM2 FOXA2 LMNA SLC25A19 STXBP1 NDNF UBE2T SLC10A7 CNTN1 EXOSC9 RAB18 HSPA9 APC CTNND2 AEBP1 REV3L ATP6V0A2 KDM6A RASA2 SH2B1 KCNJ6 ZNF341 CTBP1 FLII ARID1B LRRC8A MID1 DBH RXYLT1 CDH1 FANCB RAB3GAP2 ACVRL1 NOTCH3 MEGF8 BMPR1A MEGF10 DONSON TAB2 RREB1 SEC23A TANC2 CPLANE1 DISP1 MSX1 CD79B RPL35 SETD5 RPL31 HIRA POMT1 PHGDH SIX5 ECM1 SNRPN FANCI COL9A1 DSE ATN1 RAF1 MED12 GBA PEX10 COG1 USP9X MT-TN HYAL1 TGDS SLC2A10 GLE1 LMOD3 BRAT1 SLC5A7 NUP88 BMP2 DVL1 RNU4ATAC POLA1 GAD1 CHSY1 SET MYOD1 CDK19 IQSEC2 TBX2 OFD1 COL3A1 CCDC141 MAP2K2 AK9 TAPT1 CEP152 ERCC3 SCARF2 SURF1 PIGT EP300 NXN CC2D2A PIGP PEX19 PYROXD1 BBS1 BRIP1 CILK1 EFEMP2 EFTUD2 BGN LMBRD1 ALG14 SALL4 TCTN3 DPAGT1 HUWE1 NEK1 ATRX BRCA2 RPS26 TWIST1 CSPP1 BCORL1 LMX1B DUSP6 LZTR1 RFWD3 RRM2B RPS27 MAPRE2 YARS2 B4GAT1 GAS1 KDM1A PAK3 KMT2C CHD3 WNT5A CHRND DHPS LARS2 IFT122 RMRP PRKG1 TCF3 CCDC22 THOC2 SUMO1 PIGQ NEDD4L LIG4 FAM20C FRMPD4 MYL1 TBX15 RIC1 KIFBP FANCM ADA2 THOC6 ERF RAD21 NEFL ALG3 SYT2 SPEG GATA3 INPPL1 MECOM FBN1 TBR1 CHAMP1 ITGA7 WDR11 UBB TXNL4A MUSK RUSC2 RAPSN MASP1 NF1 VAC14 OBSL1 EDNRA CHAT SMARCA2 FTO SMS PAX7 RPS15A YY1 MYBPC1 MAMLD1 DCC MN1 PUS1 BPNT2 PIGA EIF4A3 COMT DYNC2H1 HRAS FUT8 MADD RPL11 MED25 NAA10 FBXL3 TCTN2 PIGL HECW2 HPGD SMARCD1 PQBP1 RPS10 MAP2K1 ERCC2 BIN1 TACR3 PTPN14 DLL3 SIK3 ZSWIM6 AMMECR1 RAB3GAP1 SIX1 BMPER LGI4 SLC25A24 DOCK3 EDN1 RPS28 FANCC IGLL1 RRAS CTNNB1 DLK1 KAT6B GATA4 STAG1 SLC39A13 SPOP MRPL12 SC5D SMARCC2 LRRC32 TRMU AIFM1 TBL1XR1 MEIS2 SEC31A PEX11B FKTN RNF113A PTDSS1 TGFBR2 COX14 DGCR6 SIX2 NALCN MYT1L FOXF1 MAPK1 SLX4 AMER1 ACTL6B SRCAP POLR2A PIK3CA SOX6 NUP188 OCLN FOXP2 INTU FAM149B1 NEK9 ATAD1 POMT2 TRRAP KLLN RPL15 PEX13 TECR RPS6KA3 ORC4 DDX6 KIAA0753 SMARCE1 CEP290 POLR1D SUFU RET LBR MCTP2 EFL1 FANCE SMAD4 NEUROD2 ZNF469 KCNN3 MAF CTU2 MT-CYB STAG2 TMEM237 ZMIZ1 PHIP INTS1 EARS2 OTX2 DDX59 HOXA2 CUL4B TMEM231 HYLS1 TRIM8 PUS7 PORCN SOX11 MYMK ARID2 SVBP TOE1 MOGS CCDC28B HYOU1 CDK10 RPL35A CEP57 SDHC TARS1 CTSK ADAT3 CENPF FANCF PPP2R5D PLXND1 ZBTB20 ARVCF IER3IP1 SOX10 MYO9A WARS2 MYCN SH3PXD2B KLHL41 ZBTB24 GNRH1 LFNG POMGNT2 FKRP PAH MYO18B TRAPPC4 PLOD1 KISS1 DPM1 LRP5 BUB1B PROP1 AP1S2 FARSB SLC6A17 SKI LOXL3 ACTN2 ZNHIT3 SLC35C1 MAP3K20 FBXW11 KIF14 SEC24C NSD1 ITGA8 CYP26C1 HBA2 TBX22 PRUNE1 RPS23 MYLK SOS2 MIR140 OTUD6B IGHM SNAP25 DLX5 C12orf57 MPLKIP NTNG1 TCF20 KANSL1 CDT1 LTBP2 NOTCH2 MRAS FZD2 PLCB4 NID1 PIGB CNTNAP1 ASXL3 COG5 WNT3 MESP2 SMG9 WDR73 ERMARD B3GAT3 SCN2A COLEC11 POLR3A TAC3 HBA1 SMO PIGH GNAO1 SOX3 RPS24 WDR26 RPL18 ZDHHC9 AHI1 SLC12A6 FREM2 TRIP13 EXOC7 SEC24D ADARB1 KPTN SP7 YWHAE CLTC SMARCB1 TCF4 KIAA0586 NRAS ELMO2 ACTA2 POU1F1 BUB1 GTF2E2 TBX6 VPS13B VAX1 MYH11 TBCK VPS51 GSC PNKP IFT140 SNRPB SPTBN4 FIG4 A2ML1 DDHD2 MAFB PUM1 SOX5 MYH2 SMARCA4 MED12L RAD51C FAT4 SMOC1 PGM1 MECP2 ROR2 MT-TE IRX5 TUBB3 ECEL1 MAP1B INPP5E PEX12 GDF3 PPP3CA RPS17 CTNND1 ACTG2 RERE WDR4 CLP1 TBCE EXT1 FH SH3BP2 BPTF HOXD13 FGFRL1 G6PC3 RARS2 DYRK1A RPS29 FLRT3 TASP1 PLAG1 ADAMTS10 PIK3R1 FANCG SOX2 FANCA COL9A2 HP_ABNORMALITY_OF_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP WDR35 KDM1A CLIP2 NODAL NFIX UNC80 PUF60 CDH11 SOX4 HES7 PAK3 ACER3 NALCN ADGRG6 EVC AP4M1 XYLT1 WNT5A ATRX PRMT7 SF3B4 QRICH1 DMD MAP3K7 SHANK3 GDI1 MGP SIX3 DISP1 MTOR MMACHC GPC6 CXorf56 SUMO1 CREBBP POGZ TRPS1 MAGEL2 B3GALT6 MAN1B1 HDAC8 SNRPN SLC29A3 ARHGEF6 RIC1 NSD2 DHCR7 NSDHL ASXL1 DSE THOC6 NSUN2 ACTL6A KCNJ8 SEC23A NDN RPGRIP1L WDR37 RAD21 NEB NFIA NECTIN1 BPTF KCNH1 IL1B BRF1 TBL2 DHODH LHX4 TBR1 BRCC3 ALG9 MAP11 GPC3 CHAMP1 COX7B DEAF1 ITGA7 PIK3CA CLCF1 GP1BB UPF3B GAS1 ADNP LMX1B CCNQ SETD5 NELFA ABCC8 TXNL4A MUSK TCF4 HERC2 MYOD1 CPLX1 DYNC2I2 IQSEC2 PYCR2 MASP1 NF1 KCNK4 ACTB VAC14 SATB2 OBSL1 NBN RAB3GAP2 LIMK1 TP63 PTCH1 DLL1 HRAS GRIA3 MSL3 CCDC8 SMARCA2 POMT1 ALG11 CKAP2L COG7 GLI2 DHX37 EXT2 SMS SPECC1L PITX2 ODC1 YAP1 TMEM70 NPAP1 HPDL YY1 DVL3 SMC3 KIF7 SNORD116-1 CHRNG TBC1D20 KIFBP PIEZO2 SHH NOVA2 IGF1R MAF COL2A1 HSPG2 MOCS1 YWHAE ADSL PUS1 NCAPG2 SIN3A PGAP2 TTC37 TGDS ATIC KMT2E COMT DYNC2H1 RHOBTB2 DLX4 MKRN3 SNORD115-1 MADD MARS2 MECP2 MED25 RPL10 NAA10 GLIS3 CRKL DIS3L2 UGDH FLCN HDAC6 RTL1 TDGF1 PIGS PIGL ALX4 SMARCD1 PQBP1 AP4S1 IRF6 CNKSR2 MAP2K1 MPC1 ATP6V1B2 C12orf57 PAFAH1B1 B3GLCT PPP1CB AP4B1 PIGK GBA EFNB1 NONO CENPJ IL1RAPL1 DLL3 HESX1 ZSWIM6 LTBP4 UBE3B AMMECR1 CANT1 RAB3GAP1 TRAPPC9 MYL2 TRIP11 FGF8 SLC25A24 BMP2 TAF1 KCNJ2 DVL1 NOTCH3 FRMPD4 GJA1 FOXC2 DDX3X ATP6V1E1 PSMD12 METTL5 ARID1A CTNNB1 OPHN1 DLK1 TENM3 ZEB2 ELN TAF13 SPOP IFT80 FGFR1 IREB2 ZIC2 SC5D ANTXR1 CUL7 HNRNPK EPG5 DCHS1 SMARCC2 WAC TBCK LRRC32 ATP6V0A2 TBL1XR1 FTSJ1 PAX3 EDA HCFC1 WDFY3 MEIS2 PPP1R12A FRAS1 RERE TMCO1 KCNMA1 TET3 KIT PGAP3 CDH1 MKS1 LTBP3 SUMF1 DOCK7 PIGV FZD2 APC FLNA USP9X MYT1L PIGN UFD1 MAPK1 AMER1 SUZ12 TRMT1 FBXO11 ACTL6B SMC1A NUP107 RAI1 RIPK4 SRCAP ANKRD11 KDM3B TBC1D24 ZNF462 ALG13 MED13 OCLN INTU GTF2IRD1 NEK9 AP4E1 BMP1 POMT2 ESCO2 TRRAP RFC2 TRIP12 ZBTB18 SLC25A46 GATAD2B SEMA3E ADAMTSL1 TUBB EZH2 BCR KIF1A PMM2 KNL1 KCNJ6 DDX6 DENND5A SASS6 KDF1 ERCC6 PRKDC ZMIZ1 PTPRF SMARCE1 MEF2C ERLIN2 LRP4 SON CNOT3 SUFU RET CNOT1 CDH2 PTRH2 SSR4 MCTP2 EHMT1 STRADA EXOC6B CCBE1 CDK13 EEF1A2 RUNX2 CHST3 SMAD4 TRAPPC4 PURA CPLANE1 RIN2 PEX26 NEK1 BRCA1 KCNK9 GRIP1 PDGFRB TPM2 MRPS28 RYR1 JMJD1C STAG2 FOXH1 PTCH2 FBN1 CRTAP ACTA1 EDARADD PHIP PPP2CA WDR62 INTS1 ADAMTS3 CNOT2 CSNK2B RSPRY1 CRLF1 XYLT2 ZNF81 IFT43 UBA1 DDX59 CUL4B KRAS BCOR SLC2A10 GPC4 HYLS1 CASK GREB1L PUS7 PORCN PIGQ PLAA SOX11 COL11A2 STIL MYMK ARID2 SVBP LARP7 ACTG1 SLC26A2 TOE1 ANKLE2 CDK10 ZC4H2 NIPBL CDON HACD1 PRDM16 PIGY SLC45A1 TFAP2A KIF11 MTX2 CLCN4 CIT TWIST1 PRKACB PPP2R5D DMPK PCGF2 MYH3 TAF6 TPM3 RLIM ALDH6A1 GLI3 PTCHD1 CHD7 ARVCF IER3IP1 MESD RNU4ATAC FLI1 AVP CDC6 TCTN2 TOR1A SYT1 AFF4 ABCC9 TALDO1 PPP2R3C PIGO BAZ1B METTL23 EDA2R EP300 NSD1 WARS2 TRIO WDR19 TGIF1 POLR1D CDK5RAP2 HNRNPU GNE TFAP2B LFNG PIGU DCPS KLHL7 PCLO TAB2 FKRP CSNK2A1 PAH MYO18B PSAT1 ATP7A DPM1 MEOX1 PIGW RAC3 PROP1 SMPD4 MED12 NEXMIF TBX1 AP1S2 SLC6A17 TRMT10A KMT2A PHF8 CEP152 CHST14 HNRNPH2 NRAS ZNHIT3 MFSD2A MLXIPL SLC35C1 RSPO2 FREM1 ARX MAP3K20 MBD5 COPB2 OFD1 FBXW11 OCRL SEC24C MEG3 ITGA8 CYP26C1 RPS19 GTF2I SETBP1 PTEN FGFR2 SLC35A1 COL11A1 MIR140 OTUD6B DOCK3 AUTS2 FGF20 SNX14 ARHGEF2 NXN POR PPP1R15B WDR26 SHOC2 PWAR1 SHMT2 RAB18 CNTNAP2 MCPH1 NTNG1 TCF20 BRAF KANSL1 UBE2A CBL NFIB ADAMTSL2 ERCC1 RPS7 NOTCH2 CERT1 CAMTA1 MAB21L1 RAB11B KLHL41 PIGB POLR1C EIF2S3 GNPTAB DPF2 LETM1 DNMT3A TMEM94 IFIH1 WNT3 PHC1 SETD1A ALG8 EED MESP2 PDE4D ASPM CD96 COL3A1 IL1RN PKDCC ERMARD COLEC10 B3GAT3 AMPD2 AGTR2 HOXB1 CTCF COLEC11 KCNAB2 BCL11A POLR3A RIPPLY2 IFT57 SMO STXBP1 CAMK2G EVC2 HSD17B4 ATP6V1A EXOSC2 ZNF41 KAT6A FGD1 ARHGAP31 CDC42 DYRK1A ALG12 SLC9A7 KCNJ11 DPM2 ZDHHC9 TGFB3 PIGG GABRD FOXA2 FREM2 PBX1 EXOC7 COG1 RAPSN ORC4 ADARB1 PHF21A PDHA1 PARS2 PIGT UGP2 CLTC INPPL1 KAT6B SMARCB1 CSGALNACT1 PACS1 RNF135 FOXG1 TNNI2 SH3PXD2B EXTL3 AP2M1 FLII ARID1B AP3D1 KIF15 MID1 POU1F1 MAPK8IP3 SNAI2 NOG GRHL3 RPS6KA3 TWIST2 VPS13B VAX1 RREB1 MOCS2 TBCE TANC2 MSX1 CCDC22 HIRA ZNF148 FLNB VPS51 DLG3 NKAP KDM5C PHGDH BCL11B CDKL5 EDAR NRXN1 PPP2R1A ATN1 PRKACA PACS2 SIM1 SMARCA4 MED12L RPL5 FAT4 SKI TUBGCP2 BRAT1 SMOC1 PPM1D GAD1 PTH1R CHSY1 IFT81 CDK19 SELENON ACSL4 ROR2 PLOD3 PROKR2 FAR1 NLRP1 AGL IRX5 MAP1B PRDX1 CEP135 MAP2K2 FKTN ITCH MYH8 TAPT1 CEP63 NCAPD3 NBAS EMC1 CC2D2A PREPL CACNA1C VPS35L CCNK SYP CILK1 MID2 CTNND1 KIF14 BUB1B EFTUD2 BRPF1 FIG4 LAS1L CDK6 ZNF711 LMBRD1 AP3B1 OCA2 PAM16 DYNC2I1 LARGE1 CLIC2 CLP1 TCTN3 EXT1 GALNT2 IARS2 TMEM237 HUWE1 CTBP1 SNRPB TSPAN7 RAB39B PWRN1 HOXD13 FGFRL1 WDR4 JUP USP27X ALX3 FGF3 TCOF1 BCORL1 TASP1 HK1 RTTN OTX2 MAPRE2 YARS2 EBF3 FAM20C WNT4 MSX2 HIC1 HP_ABNORMALITY_OF_LOWER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIP KCNMA1 ALOX12B CLIP2 IFT43 RPS6KA3 SOX4 ACER3 YY1 KMT2C MGAT2 SULT2B1 ATRX IFT122 KDM6A QRICH1 KCNH1 DMD REV3L LTBP3 ARID2 RRAS2 ABCC9 NRAS GDI1 RASA2 FGD1 ASXL3 MED13L ARID1B KIF15 TGM1 AMER1 MLXIPL NANS FBXO11 KANSL1 RAF1 WDR35 IDS MBD5 CDH11 RAB3GAP2 OCRL COL11A1 FOXC1 TBC1D24 ADAMTS2 SETD1B PSMB8 ARHGEF6 IRF6 GTF2IRD1 ARID1A GTF2I ZSWIM6 MSX1 THOC6 CDT1 RFC2 FUCA1 DLG3 RAB3GAP1 AGA CYP4F22 SOS2 PHGDH CDKL5 ORC6 TBL2 RBMX PIK3CD EDAR ECM1 TFAP2A SNRPN CHAMP1 A2ML1 MAFB GPR101 SOS1 PAX6 SPECC1L UPF3B SMARCE1 MED12 ADNP PIGN NIPAL4 FBN1 SMARCC2 USP9X SMARCA4 FOXG1 FRMD4A BDNF MED12L IQSEC2 ERCC5 SHOC2 C12orf57 ORC1 IDUA BMP2 HRAS INSR LIMK1 EHMT1 FTSJ1 RET STRADA EDNRA ABHD5 EEF1A2 DHX30 CCDC8 SMARCA2 KCNN3 IGF1R ACSL4 CYP24A1 SMS MRAS CBL CAMTA1 EDARADD ALOXE3 KIFBP NAGA AIP SCARF2 PITX2 HSPG2 DPF2 DOCK7 ZNF81 SIN3A CUL4B PAK3 MED25 SYP MECP2 SMG9 PUS7 MID2 SOX11 PTPN11 UGDH EDA LIPN GLA WDR19 AGTR2 ZNF711 PIGL ZEB2 HECW2 ERCC6 SMARCD1 RPL10 CUL7 CNKSR2 FBXL4 BCL11A NEU1 KRAS SLC25A24 ZBTB20 PPP1CB ANTXR1 GBA TFAP2B SRD5A3 SALL4 CLCN4 ABCA12 CLIC2 ALG13 GNS PLXND1 ZNF41 DYRK1A PTCHD1 DEAF1 TSPAN7 OBSL1 RAB39B IFT52 MCOLN1 SLC9A7 FHL1 FRMPD4 CHN1 WT1 ELN MDH1 USP27X ARX RRAS CXorf56 NFIX BAZ1B EDA2R TASP1 RIT1 GRHL3 HGSNAT MYCN LZTR1 ERCC2 IL1RAPL1 TBL1XR1 KNSTRN RIN2 HCFC1 EBF3 SMARCB1 MYO18B KIF11 ERCC1 PSAT1 RNF135 SDR9C7 POMGNT1 HP_THICK_LOWER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_LOWER_LIP_VERMILION CLIP2 RPS6KA3 SOX4 ACER3 YY1 NAGA AIP ATRX DPF2 KCNH1 DMD ZNF81 LTBP3 ARID2 SIN3A RRAS2 ABCC9 NRAS GDI1 RASA2 CUL4B PAK3 HRAS ARID1B KIF15 AMER1 MLXIPL NANS SYP MECP2 SMG9 RAF1 IDS SMARCA2 CDH11 MID2 SOX11 COL11A1 TBC1D24 PTPN11 UGDH SETD1B PSMB8 ARHGEF6 GTF2IRD1 GLA ARID1A AGTR2 ZNF711 PIGL GTF2I ZEB2 HECW2 SOS1 SMARCD1 CDT1 CNKSR2 RFC2 NEU1 KRAS ZBTB20 FUCA1 PPP1CB ANTXR1 EHMT1 SRD5A3 DLG3 AGA CLCN4 SOS2 ALG13 ORC6 TBL2 RBMX ECM1 GNS ZNF41 A2ML1 GPR101 CDKL5 DYRK1A PTCHD1 UPF3B DEAF1 TSPAN7 SMARCE1 MED12 RAB39B ADNP SLC9A7 FBN1 SMARCC2 USP9X SMARCA4 FRMPD4 IQSEC2 KMT2C ELN USP27X ARX SHOC2 C12orf57 ORC1 SMS RRAS CXorf56 INSR BAZ1B LIMK1 FTSJ1 RET STRADA TASP1 CAMTA1 RIT1 CUL7 PHGDH LZTR1 KCNN3 ACSL4 CYP24A1 IL1RAPL1 FRMD4A MRAS RIN2 HCFC1 CBL EBF3 SMARCB1 KIF11 RNF135 HP_LOBULATED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBULATED_TONGUE C2CD3 KIF7 CPLANE1 TMEM216 TMEM231 TCTN3 DDX59 KIAA0753 PDE6D FAM149B1 OFD1 MKS1 CEP120 HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE ALS2 ATP13A2 GAA EDN1 MTPAP GNAI3 PLCB4 TUBB4A FRAS1 HP_DIFFICULTY_IN_TONGUE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS ALS2 ATP13A2 GAA EDN1 GNAI3 PLCB4 FRAS1 HP_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_SOFT_PALATE TP63 FKTN NODAL PIGW CDH11 GLI3 PGAP3 SMPD4 KMT2C XYLT1 PTDSS1 BCOR TSR2 COL11A1 DISP1 STAC3 PIEZO2 AMER1 LARGE1 TGIF1 SIX3 RXYLT1 TGFBR1 SELENOI KIF14 FLNA KCNK9 IRF6 ADA2 GNAI3 SEC23A RPL35 RPL15 SETD5 SMAD3 RPL31 ALG3 POMT1 CRPPA SPEG B3GALNT2 SMC1A TGFBR2 IFT140 ORC4 SHH PHGDH GLI2 SNRPN EYA1 GATA1 CDC6 RPL26 UBB SON TXNL4A STAG2 TBX1 MAP3K7 FGFR2 USP9X ATP6V1B2 HYAL1 GRHL3 RPL5 HAAO CDON POMT2 PIGV MSX2 RYR1 DVL1 SHMT2 RNU4ATAC POLA1 PTCH1 PIGL DLL1 GAS1 PGM1 SMAD4 CDT1 EDN1 KCNN3 FTO SATB2 NEK1 SPECC1L RPS15A DHCR24 FGFR1 FOXH1 ZIC2 GMNN RPL27 TDGF1 PLCB4 POMK RECQL4 TBX22 TTN DDX59 PGAP2 KIF7 TTC37 EIF4A3 HNRNPK RPS17 HYLS1 RPL11 RPS19 COL4A1 COL2A1 SMCHD1 BGN ZEB2 RPL35A RPS10 KCNH1 PIGY RPS7 FGF8 POLR3A ORC6 TCTN3 TBCE AMMECR1 SNRPB RPS24 TCOF1 POMGNT1 RPS26 RPS28 DDX3X DYRK1A RPS29 B4GALT7 RPL18 SMS DLK1 BMP4 SIX1 PIGO TGFB3 CDC45 KAT6B SLC39A13 SLC25A19 DAG1 FKRP TGFB2 ORC1 TMEM231 POMGNT2 RPS27 FKBP14 MEG3 B4GAT1 SMARCD1 PSAT1 RTL1 BIN1 HP_BROAD_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_ALVEOLAR_RIDGES GJA1 GPC3 TBC1D24 FIG4 GPC4 ZC4H2 ARX RERE DHCR7 SETBP1 ASXL1 OFD1 DIS3L2 VAC14 HP_SHORT_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UPPER_LIP CPLX1 FGFRL1 EMC1 LETM1 GRIA3 FIG4 AMPD2 TWIST2 ATRX NSD2 CTBP1 VAC14 HP_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALATE WNT7A RPS6KA3 MAT2A KLHL41 NIPBL ATP7A ERCC3 RNF113A CHD3 PTDSS1 SCARF2 WNT5A TRPS1 MAP2K1 IFT122 TGFBR2 PIGT EP300 FGFR3 FGFR2 TWIST1 PRKG1 DDX59 SIN3A SLC6A17 ELMO2 KCNJ6 APC TWIST2 SPRED1 COL11A1 SKI HRAS BCOR ASXL3 CCDC22 HNRNPK ACTA2 MADD ABCC6 SLC35C1 SMG9 BBS1 GPC4 MED25 FBN1 SMAD4 DIS3L2 MCM3AP PIEZO2 OCRL NAA10 CRKL ARID2 NSD1 RUNX2 GTF2E2 NOTCH3 ERMARD TBC1D24 MEGF8 TPM3 FIG4 BMPR1A FOXP2 INTU HECW2 CCDC28B CREBBP PTEN ASXL1 SMAD3 NEK9 CDK10 VPS13B CCBE1 FOXE3 PEX5 MAPK1 ERF ELN MYH11 TBCK SETBP1 TGFB3 NEB ORC6 SLC25A46 ERCC2 ANTXR1 PRUNE1 TECR PEX1 TARS1 CTSK MYLK NONO GPC3 ORC4 TCTN3 KDM5C BCR GTF2H5 UBE3B AMER1 COL12A1 SH3BP2 WASHC5 AEBP1 CPT2 ATN1 SLC25A24 SOX5 MED12 MESD MAP3K7 CDC6 LRP4 TAF1 MUSK TBX1 RARS2 DVL1 PTPN11 MED12L DVL3 BRAF SMS VAC14 CDC45 MFAP5 RET TGFBR1 LOX MPLKIP HERC2 GRIA3 KANSL1 SMARCA2 TGFB2 ADAMTS10 CDT1 TBX2 RECQL4 BRCA1 ARL6 ORC1 COL3A1 KCNK9 FZD2 PCLO CNTN1 ACTA1 PLOD1 GNE DPM1 RAB18 GMNN HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY BCR B3GLCT TELO2 FLNA PRKACB TBR1 GLI3 KIAA0753 COL7A1 TBX22 PRKACA DDX59 ROR2 CD96 RIPK4 TMEM216 NXN ASXL1 RSPO2 FREM1 DYNC2LI1 OFD1 C2CD3 KIF7 CRKL MMP1 TBC1D24 FAM149B1 EVC2 EVC TCTN3 FAM111A CPLANE1 MAPK1 EFTUD2 NEK1 SPECC1L COL3A1 SETD5 ZMPSTE24 WDR35 PDE6D IFT57 KLHL7 GLI1 IFT140 LMNA HP_ACCESSORY_ORAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_ORAL_FRENULUM C2CD3 CD96 EFTUD2 PRKACB GLI3 IFT57 KLHL7 ASXL1 DYNC2LI1 OFD1 TCTN3 PRKACA IFT140 DDX59 CPLANE1 HP_BIFID_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_UVULA TP63 FKTN NODAL PIGW CDH11 GLI3 PGAP3 SMPD4 KMT2C XYLT1 PTDSS1 BCOR COL11A1 DISP1 STAC3 PIEZO2 AMER1 LARGE1 TGIF1 SIX3 RXYLT1 TGFBR1 SELENOI KIF14 FLNA KCNK9 IRF6 GNAI3 SEC23A SETD5 SMAD3 ALG3 POMT1 CRPPA SPEG B3GALNT2 SMC1A TGFBR2 IFT140 ORC4 SHH PHGDH GLI2 SNRPN EYA1 CDC6 SON TXNL4A STAG2 TBX1 MAP3K7 FGFR2 USP9X ATP6V1B2 HYAL1 GRHL3 RPL5 HAAO CDON POMT2 PIGV RYR1 SHMT2 RNU4ATAC POLA1 PTCH1 PIGL DLL1 GAS1 PGM1 SMAD4 CDT1 EDN1 KCNN3 FTO SATB2 SPECC1L DHCR24 FGFR1 FOXH1 ZIC2 GMNN TDGF1 PLCB4 POMK RECQL4 TBX22 TTN DDX59 PGAP2 KIF7 TTC37 EIF4A3 HNRNPK HYLS1 COL4A1 COL2A1 SMCHD1 BGN ZEB2 KCNH1 UBB PIGY FGF8 ORC6 TCTN3 TBCE AMMECR1 POMGNT1 DDX3X B4GALT7 SMS DLK1 BMP4 SIX1 PIGO TGFB3 CDC45 KAT6B SLC39A13 DAG1 FKRP TGFB2 ORC1 TMEM231 POMGNT2 MEG3 B4GAT1 SMARCD1 PSAT1 RTL1 BIN1 HP_OPEN_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_MOUTH TET3 POMT2 CCDC174 UNC80 RPS6KA3 RAC1 PAK3 SLC6A8 MGAT2 CSNK2B STRADA NEXMIF EIF2S3 ATRX DGCR6 REV3L SLC35A2 UBA1 SLC9A6 SIN3A KCNJ6 EXTL3 TUBB4A ASXL3 MTOR FLII MED13L NRAS HNRNPK NFIX ZNHIT3 MLXIPL ANKLE2 OGT KANSL1 PUS7 MBD5 POGZ DIS3L2 PPP2R5D RAI1 OCRL TBC1D24 RTL1 SOX11 MEG3 DLK1 ZEB2 ZSWIM6 ADAM22 ESS2 VPS13B MAGEL2 PURA SOX5 MED12 AKT1 CCDC88A GBA DST DGCR2 AHI1 NKAP KCNH1 MEF2C NONO PRKAR1A AP1S2 IL1RAPL1 KIF1A PDE4D DGCR8 PIGN SNRPN PLXND1 CHAMP1 DENND5A DEAF1 TMEM237 GFM2 PPP2R1A ATN1 INPP5E TCF20 FOXP1 TCF4 TBX1 MED12L ELN SLC16A2 HRAS GRIA3 BRAF FAM149B1 IQSEC2 LAMA2 PARS2 KCNK9 PIGT CLTC KIF7 HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY FGF10 FGFR3 BTNL2 TCOF1 PSMB8 ATP2A2 FGFR2 TP63 HLA-DRB1 CXCR4 HP_TONGUE_NODULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_NODULES KIF7 CPLANE1 NEK1 TMEM216 RBM10 ECM1 TCTN3 PDE6D FAM149B1 KIAA0753 OFD1 HP_SHORT_LINGUAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LINGUAL_FRENULUM B3GLCT FREM1 SPECC1L TBC1D24 ZMPSTE24 WDR35 LMNA HP_PIERRE_ROBIN_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIERRE_ROBIN_SEQUENCE SATB2 RBM10 COL11A1 DGCR8 MYMK COL11A2 COL2A1 PGM1 COG1 DGCR6 ESS2 SLC10A7 EIF4A3 MAP3K7 TBX1 FLNA AMER1 DGCR2 BMP2 HP_ORAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CLEFT WDR35 KDM6A NODAL NFIX ANOS1 PUF60 CDH11 SOX4 HES7 GNB1 KMT2C ARMC9 EVC XYLT1 PEX5 WNT5A LARS2 SF3B4 BRCA1 SIX3 DISP1 KCNA1 CCDC22 PROKR2 TUBB B9D1 SUMO1 ARCN1 CREBBP PIGQ CEP55 NEDD4L TGFBR1 IL17RD FGFR2 LIG4 SIK1 B3GALT6 FAM20C HDAC8 BMP4 GLI3 SLC29A3 TBX15 RIC1 KIFBP NSD2 DHCR7 NSDHL ASXL1 FANCM ADA2 GNAI3 KATNIP SEC23A RPGRIP1L RAD21 RPS26 ALG3 STAT3 SPEG B3GALNT2 NECTIN1 OFD1 GATA3 MSX1 IL1B TMEM107 INPPL1 MECOM DHODH LHX4 DGCR8 TBR1 GPC3 CDON DEAF1 CHRNA1 ACTB XRCC2 GP1BB WDR11 GAS1 NELFA HESX1 UBB TXNL4A MUSK MYOD1 DYNC2I2 MKS1 EYA1 CARS1 MASP1 ALX4 HAAO FGF8 ORC1 MSX2 SATB2 NBN TP63 EDNRA PTCH1 DLL1 GRHL3 MYH3 MBTPS2 SCN1B POMT1 PTPN11 AHI1 NFASC FTO GLI2 POLR1B GMNN SMS SPECC1L YAP1 NEB RPS15A RAD51 DVL3 SMC3 KIF7 CHD7 CHRNG DPH1 SHH DCC POMK RECQL4 COL2A1 HSPG2 MEOX1 COL11A1 BPNT2 RBM8A TTN PGAP2 SEMA3A IFT172 TTC37 TMEM216 TGDS EIF4A3 FANCD2 COMT DYNC2H1 MKKS DLX4 RPL11 RPS19 DLG1 ALX3 MED25 SMCHD1 TCTN1 CRKL BUB3 TCTN2 RUNX2 TDGF1 PIGL SMARCD1 PQBP1 IRF6 RB1 PEX2 RPS10 KCNH1 MAP2K1 ACBD5 B3GLCT ERCC5 TACR3 EFNB1 DLL3 ZSWIM6 RBM10 NSUN2 AMMECR1 WNT3 TRAPPC9 SIX1 HS6ST1 BMPER FOXE1 CEP120 PHF8 EDN1 KCNJ2 POMGNT1 DVL1 RPS28 LHX3 TBX1 GJA1 FOXC2 FANCC CHN1 FLNB KMT2D DDX3X TRPV4 ARID1A B4GALT7 DLK1 PIBF1 ZEB2 KAT6B COL11A2 STAG1 SLC39A13 SPOP IFT80 FGFR1 DAG1 ZIC2 HNRNPK EPG5 SMARCC2 RPL5 SLC35D1 LRRC32 IGF2 MAD2L2 FGF9 EMG1 PAX3 MEIS2 FRAS1 KISS1R SELENOI TMCO1 RTL1 FKTN FLNA PGAP3 COLEC10 DOK7 CDH1 PTDSS1 DGCR6 PIGV PRRX1 FGF17 USP9X PIGN UFD1 B9D2 FOXF1 SLX4 AMER1 NUP107 RIPK4 FEZF1 POLR2A TBC1D24 SOX6 NUP188 FOXP2 INTU FAM149B1 ESS2 NAA10 IKBKG POMT2 ESCO2 TRRAP RPL15 PALB2 PDE6D RAI1 CRPPA SEMA3E TGFBR2 ORC4 BCR ATR KIAA0753 WASHC5 SMARCE1 GATA1 SON CEP290 POLR1D SUFU RET LBR MCTP2 EXOC6B SMAD3 CEP41 FANCE CHST3 SMAD4 NEUROD2 ZNF469 KCNN3 CPLANE1 MAF NEK1 GRIP1 ANKRD11 FAM50A JMJD1C MT-CYB STAG2 TMEM237 FOXH1 PTCH2 PROP1 RPL27 INTS1 EARS2 OTX2 TWIST1 DDX59 HOXA2 KRAS TMEM231 ALX1 BCOR ARNT2 HYLS1 GREB1L TRIM8 PORCN RPL26 SOX9 CC2D2A SOX11 MYMK ARID2 ZC4H2 NIPBL RPL35A ARL6IP6 SLC26A2 PIEZO2 PIGY RPS7 TFAP2A CEP57 ORC6 COL9A3 CENPF FANCF PPP2R5D HMGA2 PLXND1 NPHP1 ARVCF SOX10 WDPCP TCOF1 CASK STAC3 PIGO CDC45 ARX SLC18A3 ZMPSTE24 FANCL PHF6 PROK2 TCTN3 EBP TGIF1 GNRH1 CDKN1C LFNG POMGNT2 FKBP14 KLHL7 FKRP STAMBP TBX4 PSAT1 KISS1 BIN1 PIGW BUB1B SMPD4 KLHL41 FGFR3 SEPTIN9 LMNA TSR2 IGBP1 LOXL3 CHST14 RPGRIP1 GDF6 CHRND LARGE1 RSPO2 CPLX1 KIF14 SEC24C ITGA8 CYP26C1 TBX22 SMC1A RPS23 TELO2 MIR140 TMEM67 FGF20 WNT4 INPP5E SLC25A22 CDC6 DLX5 MAP3K7 ATP6V1B2 DHCR24 SHMT2 C2CD3 NUP88 BRAF KANSL1 GJB2 CDT1 EFTUD2 FZD2 CEP104 CDKL5 ARHGAP29 FUZ SPRY4 PLCB4 NID1 POLR1C EIF2S3 DPF2 CSPP1 PRDM5 LETM1 MESP2 SMG9 COL4A1 GPC4 CD96 IL1RN ACTG1 B3GAT3 PEX7 SCN2A CTCF COLEC11 MAPK1 POLR3A TAC3 RIPPLY2 DMXL2 IFT57 SMO ERCC4 DGCR2 GNRHR EVC2 NSMF GNAO1 SOX3 KAT6A FGD1 ARHGAP31 RPS24 WDR26 RPL18 NOTCH2 TGFB3 FOXA2 FREM2 TRIP13 SLC25A19 COG1 TGFB2 STXBP1 NDNF UBE2T RAPSN SLC10A7 MEG3 SMARCB1 VANGL2 KIAA0586 REV3L DUSP6 GMPPB SH2B1 FLII ARID1B MAPRE2 MID1 POU1F1 RXYLT1 BUB1 FANCB KCNK9 MEGF10 TBX6 DONSON VAX1 RREB1 RPL35 SETD5 RPL31 HIRA POLR1A PNKP IFT140 PHGDH SNRPB SIX5 SNRPN FANCI COL9A1 MAFB DSE ATN1 MED12 SMARCA4 ARL13B RAD51C HYAL1 SLC2A10 SMOC1 RYR1 RNU4ATAC POLA1 GAD1 CHSY1 PGM1 IQSEC2 TBX2 CCDC141 ECEL1 MAP2K2 VANGL1 WNT7A TAPT1 MTHFR SCARF2 GDF3 PPP3CA NXN PIGP RPS17 BRIP1 CILK1 CTNND1 BGN KMT2A ACTG2 RERE SALL4 DYNC2I1 TBCE LMBRD1 CTBP1 ATRX BRCA2 HOXD13 ROR2 ARL3 FGFRL1 G6PC3 DYRK1A JUP RPS29 LMX1B FLRT3 PLAG1 RFWD3 FANCG SOX2 FANCA RPS27 COL9A2 B4GAT1 HP_CLEFT_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_UPPER_LIP MEOX1 WDR35 NODAL PROP1 SMPD4 STAG2 CDH1 EVC SF3B4 TP63 MKS1 WNT5A PIGV FGD1 PAX3 PHF8 DISP1 MEIS2 PIGN FLII ASXL1 AMER1 MID1 RSPO2 TGIF1 SIX3 SUMO1 POU1F1 RIPK4 RAI1 CPLX1 GRHL3 SLC29A3 IRF6 ITGA8 HYLS1 INTU CYP26C1 RPS19 NSD2 NSDHL VAX1 POMT2 ESCO2 MSX1 RPGRIP1L FGFR1 SEMA3E FLNB NECTIN1 SMC1A KRAS FRAS1 IL1B GPC3 SHH B3GLCT DHODH LHX4 TFAP2A GLI2 DEAF1 FGF20 GPC4 MED12 NELFA CHD7 DYNC2H1 TXNL4A SUFU RET DYNC2I2 MASP1 DVL3 RPL5 SLC2A10 CDON ACTB SMOC1 NBN PTCH1 DLL1 GAS1 TMCO1 KANSL1 POMT1 IQSEC2 SMAD4 DVL1 PHGDH NAA10 CPLANE1 NEK1 SPECC1L PROKR2 GRIP1 YAP1 FZD2 FOXH1 PTCH2 KIF7 ZIC2 FKTN TDGF1 TAPT1 NIPBL POLR1C DDX59 LETM1 TGDS CC2D2A WNT3 BCOR DLX4 GREB1L OFD1 PORCN CILK1 IL1RN FOXC2 CTNND1 GJA1 COLEC10 COLEC11 FGF8 SMO EFNB1 DYNC2I1 LARGE1 EVC2 TCTN3 HESX1 ZSWIM6 TRAPPC9 ARHGAP31 GLI3 CTBP1 HOXD13 FGFRL1 TCTN2 DDX3X JUP ALX3 TCOF1 LMX1B FOXA2 SPOP FREM2 IFT80 EPG5 POLR1D OTX2 KLHL7 FKRP FAM20C MSX2 HP_GLOSSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSITIS SLC6A19 SLC39A4 SLC46A1 LMBRD1 PTPN22 MMACHC HP_TRIANGULAR_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_MOUTH INPP5E ROR2 DVL3 BUB1B TFAP2B DVL1 LAMB2 SNRPN WNT5A GTPBP2 COLQ ERCC2 NCAPG2 KIF7 NXN PIGA HP_TRISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRISMUS MYMK PHGDH COL2A1 MYH8 EDNRA LIFR TPM2 PNKD HSPG2 CRLF1 SF3B4 PRRT2 PSAT1 GBA HP_GINGIVAL_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_OVERGROWTH KCNMA1 CLIP2 NPM1 ADAMTS3 MGAT2 ZBTB16 WNT5A AGA PRMT7 CNTNAP1 RMRP KCNH1 NABP1 ABCC9 SH3PXD2B PIGA STAT5B EXTL3 FAM20A EMC1 USP9X NXN STAT3 MYSM1 NFIX ZNHIT3 IDS SLC35C1 CD96 PLAGL1 C1S C1R FAM20C PRKAR1A TBC1D24 ADAMTS2 SLC29A3 GTF2IRD1 PIGS NEU1 GTF2I ZEB2 PML SC5D VPS13B HYMAI OSTM1 ANTXR2 CCBE1 BCOR RFC2 FGFR2 ATP6V1B2 GNAQ SLC17A5 TBL1XR1 ABCA5 REST GNPTAB IDUA KIF1A DVL3 TBL2 KCNJ6 MAN2B1 DDR2 SOS1 RARA IER3IP1 PIGN ROR2 FAT4 DVL1 LBR PLG NUMA1 INSR GUSB RALGAPA1 MMP2 KCNK4 FGF3 BAZ1B LIMK1 GLB1 ELN FIP1L1 MMP14 KCNN3 AIMP2 RIN2 TBCK COL3A1 DHCR7 FZD2 MAP1B IRF2BP2 TMCO1 HP_THICK_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_UPPER_LIP_VERMILION NAA10 BRCA1 STRADA NOG COL11A1 APC RPS7 DENND5A GPC4 TOE1 VPS51 EBF3 WDR26 SC5D ABCC9 TWIST2 THOC6 NSUN2 HP_XEROSTOMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XEROSTOMIA NOD2 FGF10 LBR VAPB SLC12A2 ASXL1 FGFR2 TP63 PPARGC1A CHMP2B NEK1 OPTN UNC13A SOD1 SIM1 CHCHD10 UBQLN2 GLT8D1 PON3 SCN9A ATXN2 CFAP410 CHRM3 TREM2 RUNX1 TARDBP ERBB4 HLA-DRB1 IRF5 MAGEL2 B2M PRPH EDARADD CCN2 FIG4 PON1 EPHA4 NEFH CCR6 CAV1 GSN HNRNPA1 CLDN10 TAF15 DAO CCNF SRSF2 FGFR3 C9orf72 TBK1 DCTN1 TET2 GLE1 VCP MATR3 SQSTM1 CBL FUS PON2 PFN1 ANXA11 ANG HP_HIGH_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PALATE KDM6A NODAL PDHX PAK3 GNB1 FOXL2 AP4M1 CHD3 WNT5A CHRND DHPS COL6A1 ATRX IFT122 KCNH1 SHANK3 PRKG1 BRCA1 TCF3 DISP1 CCDC22 TUBB THOC2 ABCC6 PEX6 ARCN1 CREBBP TGFBR1 POGZ TRPS1 FGFR1 FGFR2 LIG4 CDH11 AKT1 B3GALT6 FAM20C HDAC8 FRMPD4 MYL1 NEB CBS SMAD3 FANCM ADA2 DSE HYMAI SIX3 TNNI2 ACTL6A NEFL ALG3 SYT2 EP300 SPEG MSTO1 OFD1 EPG5 SHOX PEX5 CHAMP1 ITGA7 PEX26 ZMPSTE24 XRCC2 SOS1 CLCF1 MUSK RUSC2 COL6A3 MYOD1 RAPSN PYCR2 FBN1 NF1 BRAF ORC1 VAC14 SATB2 OBSL1 LRRC8A RAB3GAP2 PTCH1 DLL1 GAS1 CHAT SMARCA2 CHRNE TGFB2 SMS SPECC1L PAX7 LAGE3 ODC1 CFL2 RPS15A HPDL ACTA1 EBP RAD51 YY1 GFPT1 SMC3 KIF7 SEMA5A SLC18A3 CHRNG MYBPC1 TBC1D20 VAMP1 PIEZO2 MAMLD1 IGF1R MN1 TWNK SELENON RECQL4 HSPG2 PUS1 TTN PGAP2 PIGA TMEM216 TGDS EIF4A3 KMT2E FANCD2 MKKS FUT8 WNT7A MADD RPL11 RPS19 MYH7 MED25 MCM3AP NAA10 FBXL3 CRKL RUNX2 EIF2AK3 SYNGAP1 FLCN RTL1 TDGF1 HECW2 HPGD COL13A1 PQBP1 AP4S1 PEX10 RAB23 RPS10 MAP2K1 ERCC2 AP4B1 BIN1 PEPD CHRNA1 NONO PTPN14 SIK3 GTF2H5 UBE3B NSUN2 RAB3GAP1 MYL2 LRP12 AEBP1 LGI4 FGF8 SLC25A24 PTEN DOCK3 TAF1 KCNJ2 DVL1 RPS28 LAMB2 NOTCH3 FANCC KMT2D ATP6V1E1 PSMD12 IGLL1 HSD17B4 GLI2 RRAS CTNNB1 DLK1 GEMIN4 BMP4 SDHB GATA4 STAG1 SLC39A13 SPOP RIT1 MYPN PRMT7 MRPL12 ZIC2 SC5D HNRNPK DCHS1 RPL5 TPM2 TRMU ATP6V0A2 WDR35 MAD2L2 AIFM1 CD79A WDFY3 SMARCD1 FRAS1 TMCO1 LMNA SEC31A PEX11B TET3 INSR KRAS PGAP3 RNF113A PTDSS1 TGFBR2 COX14 RRAS2 CD96 NALCN APC USP9X MYT1L PIGN MAPK1 SLX4 AMER1 TPM3 TRMT1 SEC23B ACTL6B SMC1A NUP107 DIS3L2 ANKRD11 POLR2A PIK3CA PLAGL1 PGM3 TBC1D24 SOX6 NUP188 MED13 OCLN FOXP2 INTU FAM149B1 ADAM22 NEK9 ALG2 AP4E1 ATAD1 SMCHD1 ESCO2 KLLN RPL15 PALB2 ELN TRIP12 ANK1 PDE6D FBN2 RPS6KA3 DST GPC3 ORC4 BCR ATR KCNJ6 DDX6 KIAA0753 COL6A2 WASHC5 GATA1 ERLIN2 LRP4 SDHD STAT3 PTPN11 CNOT1 CDH2 EXOC6B EFL1 TRIO DHX30 FANCE PURA KCNN3 CPLANE1 RIN2 NEK1 KDM5C KCNK9 GRIP1 CTU2 RYR1 CBL FOXH1 TLK2 ZMIZ1 RPL27 PHIP COL12A1 PPP2CA SLC25A1 CRLF1 DDX59 SIN3A CUL4B CHST3 BCOR NSDHL SLC2A10 PUS7 SHH PLAA MYMK ARID2 SVBP TOE1 MOGS CCDC28B HYOU1 CDK10 NIPBL HERC1 SON RPL35A FOXE3 KBTBD13 CDON HACD1 PIGY RPS7 TGFB3 PEX16 ORC6 COLQ MTX2 SDHC TARS1 ADAT3 FANCF TWIST1 PPP2R5D PCGF2 TAF6 PLXND1 GNPAT MED13L RLIM STAG2 ALDH6A1 PAX1 IER3IP1 MESD IBA57 CPT2 AFF4 STAC3 FLNB PIGO CDC45 MYO9A H19 FANCL WARS2 MYCN SH3PXD2B KLHL41 TCTN3 TGIF1 POLR1D HNRNPU ZBTB24 GNE PIGU TNNT3 PCLO TAB2 ARX CSNK2A1 PAH MYO18B TBX4 GATAD2B TRAPPC4 PLOD1 ATP7A DPM1 ABL1 PIGW TRIP4 MED12 COX6A2 KIAA1109 AP1S2 FARSB SLC6A17 TSR2 TWIST2 IGBP1 KMT2A SKI FGFR3 CHST14 HNRNPH2 ACTN2 MAP3K20 FBXW11 PEX2 NSD1 DLG3 SETBP1 USF3 HBA2 AGRN SLC17A5 COL11A1 RPS23 MYLK SOS2 MIR140 OTUD6B TFAP2A SNX14 DDR2 IGHM PSAT1 SCN4A ARHGEF2 PEX13 CDC6 SNAP25 CHRNB1 TBX1 MAP3K7 EYA1 ATP6V1B2 UPF3B HRAS CASK RAB18 MFAP5 RET MTM1 MPLKIP NTNG1 TCF20 CCDC47 KANSL1 ENPP1 CDT1 IGF2 COL1A2 RNASEH1 LTBP2 ARL6 LOX PEX3 NOTCH2 MRAS FZD2 PEX14 MAT2A PIGB POLR1C CNTNAP1 PMM2 NFIX GMPPB SPRED1 ASXL3 COG5 SMG9 WDR73 GPC4 BLNK FLNA RBM10 ERMARD DDX11 HBA1 ERCC4 ANTXR1 PIGH ANOS1 SRY ATP6V1A PAFAH1B1 MEG3 RPS24 OSGEP DPM2 RPL18 DOK7 ZDHHC9 SLC12A6 FREM2 EXOC7 COG1 SEC24D UBE2T ADARB1 SLC10A7 KPTN PIGT SP7 YWHAE RAD21 CLTC CNTN1 EXOSC9 HSPA9 CTNND2 REV3L NRAS RASA2 ZNF341 CTBP1 ARID1B ACTA2 MID1 DBH SMAD4 FANCB GTF2E2 MEGF8 BMPR1A MEGF10 VPS13B SEC23A TANC2 CD79B RPL35 MYH11 TBCK RPL31 VPS51 GSC PEX1 IFT140 SPTBN4 ECM1 SNRPN A2ML1 FANCI DDHD2 PUM1 ATN1 MYH3 RAF1 GBA SETD5 RPL26 MYH2 MED12L RAD51C MT-TN DVL3 FAT4 GLE1 LMOD3 BRAT1 SLC5A7 NUP88 BMP2 PIGV SMOC1 PIGL SET MECP2 CDK19 COL3A1 MT-TE IRX5 TUBB3 MAP1B MAP2K2 GMNN AK9 DMXL2 CEP152 ERCC3 PEX12 SCARF2 SURF1 PEX19 RPS17 PYROXD1 BBS1 BRIP1 EFEMP2 FIG4 LMBRD1 ALG14 RERE PPP1CB WDR4 CLP1 DPAGT1 FH HUWE1 BPTF KLHL7 SNRPB BRCA2 G6PC3 RPS26 RPS29 SIX1 TCOF1 BCORL1 EFNB1 TASP1 LZTR1 RFWD3 PIK3R1 FANCG FANCA RRM2B RPS27 ZC4H2 YARS2 HP_THIN_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_UPPER_LIP_VERMILION KCNMA1 KDM1A PGAP3 UNC80 PUF60 PAK3 SMPD4 FOXG1 ADGRG6 WNT5A ATRX QRICH1 DMD PIGV GDI1 NAA10 TRMT10A KMT2A AP2M1 USP9X CEP152 CHST14 SLC26A2 MTOR BPTF ARID1B KIF15 MFSD2A MID1 ARX MAPK8IP3 CREBBP SMC1A MBD5 COPB2 RAI1 NALCN KDM3B CDH11 MAGEL2 MAN1B1 NOG OCRL TBC1D24 RPL10 SNRPN ARHGEF6 RPS6KA3 POGZ SLC9A7 SEC23A TRRAP NDN RAD21 TAF1 SETD5 WDR19 ZBTB18 NFIA VPS51 GATAD2B DLG3 MED13 KDM5C BCR B3GLCT PMM2 KNL1 OTUD6B FBN1 MAP11 NRXN1 SASS6 DSE ATN1 ARHGEF2 SMAD4 PRKDC UPF3B ADNP PIGN CCNQ PACS2 TCF20 SIM1 PPP1R15B SMARCC2 HERC2 MED12L COG1 CPLX1 IQSEC2 CDH2 PTRH2 RNU4ATAC HDAC8 ACTB MCTP2 TUBGCP2 PWAR1 BMP2 BCL11B DVL1 PPM1D SHMT2 GAD1 CNTNAP2 CDK13 MCPH1 MED12 TRPS1 PURA OFD1 ACSL4 ATIC SATB2 ROR2 MAF SPECC1L PITX2 FAR1 ODC1 PDGFRB AGL ANKRD11 NPAP1 STAG2 SNORD116-1 CEP135 ADSL WDR62 PIEZO2 PACS1 CNOT2 CEP63 IGF1R NIPBL NCAPD3 ZNF81 IFT43 TMEM94 PYCR2 PHC1 SMC3 RHOBTB2 CACNA1C MKRN3 SNORD115-1 VPS35L PDE4D ASPM SYP MECP2 MID2 PIGQ KIF14 GLIS3 STIL CRKL ACTG1 LAS1L CDK6 PSMD12 METTL5 AGTR2 ZNF711 LMBRD1 AP3B1 ANKLE2 CDK10 PQBP1 WAC SON CTCF MAPK1 CNKSR2 BCL11A IRF6 MPC1 POLR3A SETBP1 OCA2 PIGK CLCN4 NONO CENPJ CLP1 ALG13 CIT EXT1 AMMECR1 PPP2R5D PCGF2 TAF6 EXOSC2 ZNF41 KAT6A HUWE1 CDC42 DYRK1A PTCHD1 SLC25A24 TSPAN7 ALG12 RAB39B PWRN1 KCNJ2 FRMPD4 SMARCE1 DPM2 USP27X SYT1 AFF4 CTNNB1 OPHN1 CXorf56 EP300 PIGG TAF13 TASP1 DPF2 PBX1 WARS2 HK1 ADARB1 CDK5RAP2 IL1RAPL1 GNE PIGU FTSJ1 DCPS HCFC1 CLTC CSNK2A1 EBF3 MYO18B KIF11 TRAPPC9 RNF135 TBL1XR1 UBE3B HP_VELOPHARYNGEAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VELOPHARYNGEAL_INSUFFICIENCY IRF6 TP63 DGCR8 BMP4 CDH1 GRHL3 NECTIN1 SF3B4 DGCR6 ESS2 MSX1 THOC6 UBB NEK1 RLIM DLX4 TBX1 RAI1 ARHGAP29 DGCR2 TUBB6 DLG1 HP_FURROWED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FURROWED_TONGUE KDM5C SDHB AKT1 TMEM107 CC2D2A RAB3GAP2 KRT6A TCTN2 TMEM216 USF3 HNRNPK PTEN IL36RN SOX5 WDPCP TMEM231 B9D2 KLLN SDHD TMEM67 RPGRIP1 CEP290 GJB2 ABCC9 INSR SLC39A4 MKS1 RERE SDHC SEC23B RPGRIP1L CSPP1 ECEL1 RAB3GAP1 CEP55 PIK3CA MED25 GJB6 B9D1 PKP1 HP_ABNORMALITY_OF_TASTE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TASTE_SENSATION ELP1 WNK1 SCN9A KIF1A RETREG1 SLC39A4 HP_GINGIVAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_BLEEDING ITGB3 F2 GP1BA KIF23 LYST NPM1 F7 TERC ZBTB16 FGA ITGA2B GBA RARA FGB NABP1 ELMO2 GP9 WIPF1 STAT5B F10 WAS F8 STAT3 NUMA1 LMAN1 F13A1 SBDS MYD88 PRKAR1A FIP1L1 ADAMTS2 MPL JAK2 TET2 GP1BB CAT MCFD2 FGG PML SERPINF2 SCARB2 IL18BP C1R BCOR C1S PRF1 BLOC1S3 IFNG TERT FCGR2C TBL1XR1 F5 IRF2BP2 F13B HPS1 HP_GINGIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVITIS LYST SRP54 CYBC1 OCRL ELANE KRT6A B4GALT7 SAMD9 GFI1 NCF2 CAT CTSC ALMS1 SLC6A19 CYBB COL3A1 PLG ITGB2 CYBA STAT3 IRF9 CD40LG NCF4 TCIRG1 NCF1 FERMT1 HP_THIN_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_VERMILION_BORDER KDM1A UNC80 PUF60 CDH11 PAK3 SMPD4 ADGRG6 DDRGK1 WNT5A ATRX PRMT7 SCYL2 QRICH1 DMD GDI1 ZFPM2 TWIST2 TRMT10A KMT2A CEP152 CHST14 MTOR BPTF MFSD2A ARX CREBBP MBD5 COPB2 MAGEL2 FBXW11 MAN1B1 OCRL HDAC8 SNRPN ARHGEF6 TBC1D24 GDF1 THOC6 ACTL6A SEC23A NDN RAD21 TAF1 EVC NFIA GLI1 B3GLCT SRCAP OTUD6B DOCK3 MAP11 ARHGEF2 SPECC1L UPF3B SMC1A ADNP LMX1B CCNQ SETD5 TXNL4A GATA5 PPP1R15B KCNE5 HERC2 CPLX1 IQSEC2 PYCR2 COL3A1 SHOC2 ACTB PWAR1 VAC14 SHMT2 XRCC4 CNTNAP2 MCPH1 NTNG1 TCF20 SMARCA2 UBE2A TRPS1 CKAP2L ATIC PITX2 ODC1 NPAP1 SMC3 KIF7 SNORD116-1 PYCR1 PIEZO2 IGF1R MAF ADSL PMM2 GLUL EIF2AK3 KMT2E TMEM94 PHC1 RHOBTB2 HMGA2 MKRN3 SNORD115-1 PDE4D ASPM MECP2 CD96 RPL10 GLIS3 CRKL SYNGAP1 ACTG1 PSMD12 AGTR2 PQBP1 CTCF MAPK1 CNKSR2 BCL11A IRF6 MPC1 POLR3A DYNC2LI1 MED12 PPP1CB PIGK STXBP1 FLT4 NONO CENPJ UBE3B AMMECR1 EXOSC2 ZNF41 KAT6A CDC42 DYRK1A SLC25A24 ALG12 SLC9A7 KCNJ2 DVL1 FRMPD4 SMARCE1 DPM2 METTL5 CTNNB1 OPHN1 CXorf56 NOTCH2 PDGFRB GATA4 PIGG TAF13 SPOP PBX1 COG1 SC5D ADARB1 TBL1XR1 FTSJ1 KNSTRN HCFC1 WDFY3 CLTC KIF11 TRAPPC9 GNE PACS1 RNF135 LMNA KCNMA1 PGAP3 FOXG1 MGAT2 ACSL4 PIGV NAA10 AP2M1 USP9X MYT1L SLC26A2 ARID1B KIF15 MID1 TRMT1 MAPK8IP3 ACTL6B RAI1 NALCN LEMD3 GJA5 KDM3B NOG MED13 RPS6KA3 POGZ BMP1 TBCE TANC2 TRRAP WDR19 LIG4 ZBTB18 VPS51 GATAD2B DLG3 KDM5C BCR KNL1 PIGN PIK3CD KDM5B FBN1 NRXN1 DDX6 SASS6 DSE ATN1 ERCC6 SMAD4 PRKDC PACS2 SON SIM1 SMARCC2 MED12L CDH2 PTRH2 RNU4ATAC MCTP2 TUBGCP2 BRAT1 BMP2 BCL11B TTI2 PPM1D GAD1 CDK13 RUNX2 PURA OFD1 NKX2-5 SATB2 ROR2 ALG1 SMOC1 FAR1 AGL ANKRD11 STAG2 ZMIZ1 CEP135 JAG1 PHIP FMR1 WDR62 CNOT2 CEP63 NIPBL NCAPD3 XYLT2 ZNF81 IFT43 NBAS SIN3A NDP GATA6 CACNA1C VPS35L SYP MID2 PIGQ KIF14 STIL MYMK SVBP FIG4 LAS1L CDK6 NKX2-6 ZNF711 LMBRD1 AP3B1 GJA1 ANKLE2 CDK10 WAC SLC45A1 SETBP1 OCA2 ZMPSTE24 CLCN4 CLP1 ALG13 CIT EXT1 PPP2R5D PCGF2 TAF6 RLIM NF1 IARS2 HUWE1 PTCHD1 TSPAN7 RAB39B PWRN1 HDAC4 ZBTB16 USP27X SYT1 AFF4 TALDO1 PPP2R3C BCORL1 METTL23 EP300 TASP1 DPF2 WARS2 TBX1 HS6ST2 HK1 EVC2 CDK5RAP2 HNRNPU IL1RAPL1 PIGU DCPS CSNK2A1 EBF3 MYO18B CITED2 TRAPPC4 HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES IFT43 LRP5 UBR1 CDH11 RAC3 POLA1 TPO ATP7A PEX5 WNT5A TBX1 IFT122 FGFR3 ZIC1 STAT3 LMNA ERF TENT5A CEP152 SKI CHST14 CCDC22 MTOR GPC6 ARX PEX6 KANSL1 TGFBR1 FGFR1 FGFR2 LIG4 B3GALT6 AGTR1 PLOD2 CYP2R1 RBBP8 PEX2 PDX1 FAM20C SEC24C ADAMTS2 TBC1D24 RPS19 CENPJ SETBP1 ASXL1 NDE1 LHX4 COL1A2 CTSD HYMAI RNU4ATAC SEC23A COL1A1 KIF7 AGT NPHP3 ALDH18A1 ROR2 B3GLCT MIR140 BMPER FAM111A TWIST1 PEX26 ZMPSTE24 FKBP10 LHX1 GP1BB TSHR PEX13 LMX1B CCNQ POR ABCC8 CDC6 GPX4 PHEX ERCC5 COG4 CTSK MASP1 ALX4 ORC1 PEX19 HRAS MSX2 VAC14 PTDSS1 SPECC1L SHPK MPLKIP GCK P3H1 PEX1 CDT1 INTU IGF2 PURA PLK4 ERCC1 CDKN1C TANC2 ENPP1 PEX3 NOTCH2 ASPA DCHS1 CENPE SNX10 YY1 SLC5A5 PEX14 MEGF8 DPH1 PYCR1 NKX2-5 TBCE RECQL4 MAF HSPG2 ADSL BPNT2 PIGA COMT POLR3A CDK8 FLNA SETD1A ALG8 PEX11B CDC45 SMG9 ACE SLC39A8 ETFDH NAA10 GLIS3 IL6ST RBM10 RUNX2 P4HB ERMARD B3GAT3 WDR19 LEMD3 ZEB2 HPGD SC5D PEX10 CTCF RAB23 COLEC11 ACTB KCNAB2 ERCC2 ANTXR1 SLC34A3 STXBP1 EFNB1 AKT1 TRHR GNPTAB GTF2E2 HSD17B4 GTF2H5 ZSWIM6 SLC25A24 NSUN2 ATP6V1A AMER1 KAT6A KDELR2 USP7 TCF12 SLC35A2 KLHL40 HESX1 SOX9 NSD1 DVL1 FOXE1 NOTCH3 LHX3 SMAD6 PAX8 KCNJ11 SLC26A4 B4GALT7 PPP2R1A BMP4 VDR PDGFRB GABRD NEB DDRGK1 SEC24D HNRNPK ADARB1 ATP6V1E1 ATP6V0A2 WDR35 CWC27 KPTN AIFM1 SP7 PTCH1 INPPL1 SMARCD1 RERE TMCO1 COLEC10 KRAS GORAB RNF113A TSHB SMO CEP120 NKX2-1 SIX2 EXTL3 ATRIP UFD1 TCIRG1 CYP27B1 MAPK1 ATR TG TNFSF11 PLAGL1 PIEZO2 FLNB THRA NUP188 DUOX2 ZNF462 ACTA1 ETFB REN DONSON BMP1 RREB1 PTEN ESCO2 DMP1 COL11A2 TBCK HIRA AHDC1 RPS6KA3 ADAMTSL1 GLI3 TGFBR2 IFT140 ORC4 MAN2B1 BCL11B KDM5B RSPRY1 DSE COX5A LRP2 WASHC5 ALG9 WNK1 PPIB COL11A1 FREM1 NSMCE3 MED12 NLRP3 PSAT1 SON FOXG1 MMP2 LMOD3 FAT4 SLC2A10 DUOXA2 SMAD3 CCBE1 SETD2 CYP26B1 NEPRO CHST3 POU1F1 FBN1 ALG1 ANKRD11 IRX5 TRAIP JMJD1C KLHL41 TLK2 CRTAP MAP1B DLK1 CHD4 PROP1 GMNN ALPL ETFA TAPT1 ADAMTS3 HNF1B IFITM5 ERCC3 PEX12 SCARF2 PIGT ATRX PPP3CA SMC3 NFIX IYD VPS35L RNF125 EXOC8 DDX6 PIGQ SCN9A PCNT ARID2 SUFU FIG4 ACTG1 MVK APC2 MYH3 ERCC6 GJA1 HERC1 MEG3 PRDM16 RTL1 PEX16 PAM16 ORC6 MTX2 PPP1CB TARS1 BANF1 MMP14 CLCN7 PPP2R5D SLC12A6 GNPAT HUWE1 EP300 ARVCF HOXD13 IFT52 MESD CREBBP MAP3K7 INS AFF4 TALDO1 H19 DPF2 KCNQ1 IL11RA KCNQ1OT1 MYCN SH3PXD2B RETREG1 EBP RTTN HNRNPU VARS1 KLHL7 KIF1A HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE ETFA PEX11B PEX14 UBR1 PEX12 WNT5A TSHB ATP6V0A2 ATRX ZIC1 SIX2 SMC3 MTOR PEX19 POLR3A AMER1 VPS35L CDC45 LRP2 SMG9 ARX PEX6 LIG4 PLAGL1 PIGQ PEX5 PIEZO2 ETFDH PEX2 GLIS3 PEX26 ADAMTS2 RUNX2 SUFU SKI ETFB SETBP1 PEX13 HYMAI FGFR2 PEX10 MEG3 RNU4ATAC COL1A1 SEC23A PEX3 COL11A2 GLI3 RTL1 SLC25A24 PEX16 KIF7 ANTXR1 RPS6KA3 CTSK BANF1 TWIST1 ROR2 B3GLCT ATR MIR140 NSUN2 ATP6V1A PPP2R5D COL11A1 COX5A ALG9 EP300 COL1A2 NSMCE3 MED12 NLRP3 FAM111A POR TBCE SOX9 DVL1 CREBBP COG4 MASP1 MMP2 FAT4 ORC1 TALDO1 HRAS H19 P3H1 PEX1 FGFR3 FLNA NEPRO MYCN SH3PXD2B DCHS1 INTU IGF2 EBP ATP6V1E1 VARS1 ASPA ANKRD11 CRTAP DLK1 ATP7A HP_SMALL_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_ANTERIOR_FONTANELLE RNU4ATAC ATR MYCN VARS1 ORC1 HYMAI PLAGL1 HP_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCEPHALUS NODAL FKRP RAC3 ARMC9 RSPH4A HBA1 TBX1 SMARCE1 SF3B4 KIAA1109 AP1S2 TMEM231 BRCA1 FGFR1 DISP1 SKI FGFR3 RPGRIP1 CCDC22 MMACHC EOGT ZNHIT3 LARGE1 B9D1 SIX3 CCDC114 NOTCH1 KANSL1 CEP55 IDS HBA2 SUMF1 ZBTB24 FGFR2 PPP2R5D LIG4 SMARCB1 B3GALT6 CPLX1 FAM20C PIK3R2 FKTN SEC24C CTNNB1 SLC29A3 RBPJ WDR81 COX7B TBX15 CCDC103 GBA CYP26C1 NEU1 NSD2 TSC2 DHCR7 NDUFB11 FANCM CCNO KATNIP RSPO2 ERF LRRC6 GNAQ PTCH2 SLC17A5 NEK10 B3GALNT2 CCDC65 SMC1A FRAS1 SHH TMEM107 B3GLCT RSPH1 VSX1 GAS2L2 GAS8 TMEM67 GPC3 CC2D2A PIK3CA INPP5E XRCC2 GP1BB DNAL1 POR ARHGAP31 MUSK DNAH9 TMEM237 MKS1 CTSK NF1 AKT3 SHOC2 CDON DHCR24 POMT2 DNAI2 HRAS VAC14 ERCC8 WASHC5 PTCH1 DLL1 MTM1 AKT1 DNAAF1 GAS1 CLCN7 BRAF DNAH1 POMT1 AHI1 FTO COL18A1 FAM111A TP53 CEP83 NOTCH2 GALC SNX10 OFD1 EBP RAD51 CEP104 NF2 ZIC2 DNAAF3 DPH1 CCND2 RPGRIP1L LMBR1 TDGF1 TRAF7 HCCS USP7 POMK RECQL4 TMEM216 DNAAF5 LAMB1 CSPP1 HDAC6 TGIF1 IFT172 COL4A1 FANCD2 COMT WNT3 LETM1 POLR3A FLNA MTRR VANGL1 TBXT NRAS GMPPB ERCC2 TCTN1 TGFBR1 CCL2 TYROBP TCTN2 P4HB L1CAM B3GAT3 TREM2 OSTM1 TNFRSF11A SPEF2 PTEN B4GAT1 MAP2K1 FGF8 SUFU MBTPS2 ERCC3 PPP1CB SMO GLI2 ERCC4 RSPH9 DNAAF2 SIK3 IDUA SLC2A1 NSUN2 CFAP43 TTC25 TCIRG1 CEP120 SLC25A24 ROGDI ARMC4 KIF7 SOX9 ERCC5 POMGNT1 RNASEH2A CLIC2 FANCC DAG1 KMT2D TRPV4 PIBF1 PPP2R1A SOX2 TRNT1 SEC24D UBE2T MAD2L2 PLG CCDC39 DNAI1 TRIM71 PYCR1 FANCB NME8 RPGR PTDSS1 MFN2 KIAA0586 CCDC151 KDM6A PIGV GCDH COG6 UFD1 SLX4 AMER1 VPS33A RXYLT1 TNFSF11 HYLS1 ZMYND10 TSC1 DNAAF6 RREB1 DNMT3B POMGNT2 ESCO2 CFAP298 PALB2 MTHFR HIRA BAP1 ZIC3 CRPPA STK36 GLI3 TGFBR2 DNAAF4 MAN2B1 KIF1A ERCC6 DENND5A FANCI GPC4 TMEM138 PDGFB MED12 DNAH11 CEP290 STAG2 ARL13B RAD51C FANCL EML1 CEP41 FANCE CHST3 FBN1 MAF PRKAR1A SMOC1 FOXJ1 JMJD1C MT-CYB TUBB3 FOXH1 PRDX1 MAP2K2 CPLANE1 SPAG1 DLL4 GFAP TERT CFAP300 FUZ DNAH5 IFT43 KRAS CCDC40 HYDIN OGDH RNF125 BRIP1 TAF2 PORCN CILK1 LRRC56 ALG13 SAMD9 BUB1B FIG4 CFAP221 HERC1 PIEZO2 B9D2 DRC1 CCDC88C CSF1R B4GALT1 CENPF FANCF PEX19 CDCA7 MC1R TTC12 NPHP1 ZNF423 CPT2 CTBP1 ZBTB20 ARVCF BRCA2 MPDZ WDPCP ARL3 FGFRL1 DOCK6 SLC13A5 GUSB FLVCR2 CRB2 VANGL2 GPSM2 RFWD3 DNAJB13 MCIDAS FANCG HNRNPU FANCA PIGU RSPH3 ARSB HELLS HP_PARIETAL_BOSSING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_BOSSING PTCH1 PTCH2 PTPN11 SUFU RUNX2 KRAS POLR3A FGFR3 HP_TRIGONOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIGONOCEPHALY ZIC2 C2CD3 FGFR1 PDHX GLI3 EFTUD2 DPH1 NUP188 FLCN ACTG1 DPF2 MEGF8 IL11RA HUWE1 SLC6A9 ASXL1 FREM1 USP7 RB1 ACTB CD96 PPP3CA FGFR2 FLI1 MYSM1 KLHL7 ADNP PTCH1 DPM2 CHD4 PLOD1 IFT140 SRCAP ARHGEF9 MSX2 HP_BRACHYTURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYTURRICEPHALY FGFR2 FAM20C FGFR1 FHL1 SKI SP7 RECQL4 SYT1 PEX1 MSX2 HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY NME8 RPGR DNAAF4 COL5A2 CXCR4 RSPH4A CD19 CCDC151 ALMS1 ICOS SIX2 NCF4 MGP CFI TCF3 SBDS ACP5 DNAAF1 AMER1 CCDC114 NEK10 CCDC65 CFAP298 DNAH5 COL11A1 FLNA PSMB8 CCDC103 FMR1 TTC25 NCF2 ZMYND10 DOCK8 CCNO RSPH9 DNAAF6 DNAI1 SMCHD1 PDE4D CD79B LRRC6 GAS2L2 FUCA1 HYDIN STK36 AGA IGHM TAP2 MAN2B1 CR2 CYBC1 RSPH1 IVNS1ABP GAS8 TRIM37 STXBP2 ALX1 PRKCD RFX5 DNAL1 DNAH11 BTK IL17RA DNAH9 CYBA PNP NF1 SFRP4 NCF1 DNAI2 IKBKB SRP54 CIITA LRRC8A PSMB9 ATRX DNAH1 NOTCH2 COL5A1 IGSF3 FOXJ1 OFD1 DNMT3B DNAAF3 DNAAF5 SPAG1 RFXAP MAGT1 CFAP300 NBN ATM WIPF1 TNFRSF13C WAS CCDC40 USB1 ADA TAPBP ALX3 BLNK LRRC56 RUNX2 DRC1 PSMB4 MCIDAS CFAP221 PGM3 DNAJC21 SPEF2 PRTN3 LRBA RFXANK CTSK MDM4 DNAAF2 ARMC4 ELANE TTC12 IRF8 FCGR3A RNF168 EFL1 HLA-DPA1 CYBB TNFRSF13B KCNJ2 RAC2 IL21R ADA2 DNAJB13 IGLL1 IL2RG CTLA4 PRKAR1A HLA-DPB1 PIK3R1 PTPN22 TAP1 SH3KBP1 CCDC39 RSPH3 CD79A NFKB2 UNC119 HP_BRACHYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYCEPHALY GRIA3 HSPA9 CR2 TET3 PIGW UNC80 CDH11 RAC3 PQBP1 PGAP3 MGAT2 MED12 FBN2 RMRP FGFR3 ZIC1 ACOX1 USP9X CHST14 FLII MED13L PIGL TUBB FOXF1 NANS SMC1A POGZ FGFR1 FGFR2 RAI1 POLR2A ALX4 MECP2 TBC1D20 RAB3GAP2 FAM20C HDAC8 FKTN TNFSF12 TBC1D24 MEGF8 CD81 GBA DSE POR ESCO2 ERF SETD5 PTCH2 LIG4 NALCN COL11A1 ADAMTSL1 RAB3GAP1 PEX1 AGA ALDH18A1 PRKAR1A MAN2B1 PDE4D MIR140 OTUD6B FBN1 ALG9 NRXN1 DEAF1 FKBP10 SPECC1L LMX1B FUCA1 TCF20 CNOT3 UPF3B CTSK PTRH2 MMP2 SKI SUFU PTH1R PIGV MSX2 WASHC5 EHMT1 XRCC4 MS4A1 CNTNAP2 CYP26B1 TMCO1 CHST3 GATA1 CCDC47 IQSEC2 TBX2 INTU ATIC MAF NFKB1 SMS CTU2 TCF12 IRX5 ATP7A MBD5 SMC3 ADSL DPH1 TAPT1 NOVA2 TNFRSF13C USP7 MN1 NIPBL RECQL4 POLR1C PIGT TWIST1 NBAS PGAP2 SRD5A3 LRP5 HDAC4 ALX1 TTC8 TECPR2 PTCH1 BUB1B LAS1L B3GAT3 GJA1 CDK10 ZC4H2 RAB23 KCNAB2 PRDM16 PIGY KMT2A SETBP1 UBE3A PNPLA6 ZBTB20 B3GLCT STXBP1 MTX2 EXT2 BRAF PTPN11 EFNB1 RUNX2 ZSWIM6 UBE3B SLC25A24 MMP14 AMER1 PCGF2 RNF216 KDM1A GALNT2 HUWE1 TDP2 NEK1 ATRX MESD FHL1 AUTS2 KMT2C ADNP DDX3X RALGAPA1 NFKB2 STAC3 HCFC1 BMP4 PIGO ZDHHC9 TCOF1 TGFB3 SLC12A6 GABRD TNFRSF13B NGLY1 IL11RA SYT1 ADAMTS10 WAC ADARB1 POLR1D PHF21A RAF1 CD19 TBL1XR1 SP7 PCLO PRKCD RAD21 TRAPPC9 RERE SATB2 SPOP RBM8A RAB18 ICOS HP_PROGRESSIVE_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MICROCEPHALY TREX1 SPTAN1 FAR1 ATP6V1A MED17 PCDH12 SMPD4 FOXG1 MFSD2A ERCC6 PPT1 CDC42 CDKL5 ACO2 ERCC8 TSEN15 ALG12 ATP6V0A2 TSEN2 QARS1 SCN8A RNASEH2A EXTL3 RARS2 RNASEH2C COG1 VPS53 PYCR2 ASNS CYFIP2 POMK PUS3 DPM2 CDC45 GOT2 MDH1 WWOX TSEN34 TSEN54 PNKP TUBGCP2 ZNHIT3 PAFAH1B1 TOE1 CASK SNAP29 EMC1 RNF113A PLAA RPL10 EFTUD2 CNP SEPSECS SLC1A4 AMPD2 SLC39A14 PNPO ZSWIM6 COG7 IQSEC2 EXOSC3 BRAT1 ATP6V1E1 MPC1 VARS1 ACBD5 PTRH2 COG8 SLC25A19 CCDC88A GRIA2 PCLO ARFGEF2 STAMBP MECP2 SLC2A1 NDUFS1 TRAPPC6B CLP1 HP_WIDE_ANTERIOR_FONTANEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_ANTERIOR_FONTANEL ETFA PEX11B PEX14 PEX12 WNT5A TSHB ATP6V0A2 ATRX SIX2 MTOR PEX19 VPS35L CDC45 LRP2 SMG9 ARX PEX6 LIG4 PIGQ PEX5 PIEZO2 ETFDH PEX2 GLIS3 PEX26 ADAMTS2 SUFU SKI ETFB SETBP1 PEX13 FGFR2 PEX10 MEG3 COL1A1 SEC23A PEX3 COL11A2 GLI3 RTL1 SLC25A24 PEX16 KIF7 ANTXR1 TWIST1 ROR2 B3GLCT MIR140 NSUN2 PPP2R5D COL11A1 COX5A ALG9 EP300 COL1A2 NSMCE3 MED12 POR SOX9 DVL1 CREBBP COG4 MASP1 FAT4 TALDO1 HRAS P3H1 PEX1 FGFR3 FLNA NEPRO SH3PXD2B DCHS1 INTU EBP CRTAP DLK1 HP_TURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TURRICEPHALY FGFR2 SLC12A6 ALG14 TBX1 TWIST1 MN1 PEX5 RECQL4 GP1BB SLC25A24 ARVCF ZIC1 RAB23 COMT FHL1 GPX4 UFD1 ACP5 MSX2 FAM20C SEC24C SOX6 SKI MEGF8 IL11RA SYT1 SEC24D RREB1 FGFR3 ERF FGFR1 SP7 HIRA JMJD1C P4HB PEX1 FERMT1 HP_OXYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OXYCEPHALY RAB23 ZIC1 FGFR2 SOX6 MEGF8 TWIST1 HP_ABNORMALITY_OF_THE_MASTOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MASTOID DLX3 SLC39A14 RAG1 PAX1 CDH11 NBN ATRX RAG2 HP_MASTOIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASTOIDITIS SLC39A14 RAG1 PAX1 NBN RAG2 HP_CRANIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_ASYMMETRY NRAS KRAS CPLX1 FGFRL1 SPECC1L LETM1 POLR3A MAF NSD2 CTBP1 HRAS RNF135 PEX19 HP_DOLICHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOLICHOCEPHALY IFT43 KRAS GLI3 PEX5 FBN2 ATRX IFT122 SHANK3 PRPS1 BRCA1 ZFPM2 KMT2A SKI ASXL3 KIF15 SLX4 ARCN1 RAF1 WDR35 IDS DIS3L2 GJA5 FANCB MAN1B1 ITCH FKTN RPL10 NSD1 SOX6 NOTCH3 GDF1 PTEN FANCM NSD2 TAB2 PALB2 HNRNPK AKT1 PEX13 IFT140 INPPL1 DLX3 KDM5B TFAP2A DPH1 ALG14 TRIM37 TWIST1 FANCI VDR XRCC2 NELFA PEX10 TMEM216 KDM6B CNOT3 GATA5 FGFR2 SNAP29 HERC2 CCDC8 RAD51C FBN1 C12orf57 PWAR1 IDUA PEX19 VAC14 OBSL1 RNU4ATAC RAB39B SMAD3 RELN SETD2 PEX1 MSL3 IFT81 FANCE BRAF MYH3 OFD1 NKX2-5 MAGEL2 KCNK9 IFT52 NPAP1 RAD51 NPR2 YY1 SNORD116-1 PEX2 CHRNG JAG1 PEX14 INTS1 DMXL2 MN1 SLC3A1 PI4KA CNTNAP1 UBA1 NFIX ZNF142 ERF LETM1 GATA6 FANCD2 MKRN3 SNORD115-1 PEX11B TBC1D7 BRIP1 KPTN IL6ST PEX26 ERMARD FIG4 NKX2-6 MVK APC2 WDR19 SLC6A9 CUL7 PEX3 EXOC6B TRAIP ERCC4 ALPL CEP57 FLT4 GATA4 BLM FANCF HSD17B4 PEX12 PPP2R5D PEX16 DYM BRCA2 PWRN1 MADD FANCC ATP6V1B2 ALX4 PREPL NDN PEX6 NOTCH2 TGFB3 SMC1A FANCL HGSNAT IL11RA TBX1 UBE2T KMT2E RFWD3 ORC4 FANCG SLC35D1 FANCA MAD2L2 RYR1 FGF9 EBF3 CNTN1 CITED2 ARSB SNRPN HP_PROMINENT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_OCCIPUT PHGDH ITCH HES7 NID1 WASHC5 IFT122 IFT52 PIGN PIGA ATP7A ERF CNOT3 CNOT1 CCDC22 MESP2 TOR1A SMG9 ALX4 HRAS WDR35 NOTCH2 PLAGL1 KAT6B RNU4ATAC IFT43 RELN IGF2 SOX6 SUFU TBC1D24 IFT81 KCNQ1 WDR19 KCNQ1OT1 TBX6 MOGS MYCN KRAS HYMAI TWIST1 CDKN1C FLNA GLI3 LFNG NRAS RIPPLY2 KIF7 TFAP2B MED12 PSAT1 FLNB CTSK DLL3 HP_DELAYED_CRANIAL_SUTURE_CLOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CRANIAL_SUTURE_CLOSURE FGFR2 ROR2 FLNA NSUN2 TBCE ATP6V1A AMER1 FAM111A ATP7A PTDSS1 MAF ZMPSTE24 EP300 FGFR3 USP7 TWIST1 MED12 NLRP3 ATP6V0A2 ZIC1 GLI3 NAA10 ALDH18A1 PEX14 CHST14 SMC3 POLR3A CREBBP CTSK RNF125 MMP2 SKI LIG4 DDX6 PDGFRB ADAMTS2 H19 GABRD RUNX2 P3H1 ACTG1 RPS19 POU1F1 SH3PXD2B IGF2 ACTB SEC23A KCNAB2 PRDM16 ATP6V1E1 ASPA LMNA ANKRD11 ANTXR1 MTX2 RPS6KA3 CRTAP RERE BANF1 FAM20C PEX19 HSD17B4 HP_FACIAL_GRIMACING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_GRIMACING EP300 ATXN8OS CREBBP GATAD2B PANK2 GLI3 PNKD CP HP_SMALL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FACE ACTA1 CLIP2 PAX3 FLNA CENPT TUBB4A PQBP1 MED12 STRADA POLR1C NHS SLC9A6 SIN3A NFIX BCOR NALCN SLC6A8 TRMT10A KMT2E ATRIP NEB CEP152 RLIM MYT1L NSDHL DSTYK CXorf56 TPM3 ATR TRMT1 FGFR3 ACTL6B MYH7 RECQL4 LIG4 FBXW11 PCNT RBBP8 NOG SVBP NOTCH3 MED13 FMR1 B3GAT3 GTF2IRD1 APC2 CENPJ GTF2I UPF3B HYOU1 MAP2K2 DDX11 TNNI2 NSUN2 ACTL6A KBTBD13 TANC2 FBXL4 RFC2 TRAIP RYR1 SEMA3E TBX1 BLM ERCC4 RUNX2 SATB2 UBE3B TBL2 KLHL41 TBR1 DOCK3 DDX6 EYA1 TRIP11 BPTF CHD7 ATRX SELENON UBB SOX9 NSD1 PPP1R15B CHRNB1 TPM2 FBN1 PSMD12 SLC16A2 B4GALT7 LMOD3 GHR SIX1 ZDHHC9 TCOF1 BCORL1 INSR BAZ1B LIMK1 ELN MTM1 GRHL3 SETD2 PBX1 LMNA MYPN NTNG1 TCF20 CHST3 NGLY1 CFL2 PLK4 POLR1D MYH3 AP4E1 SMS CENPE TNNT3 WDFY3 ZMIZ1 TRAPPC4 ATP7A WRN HP_RETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROGNATHIA MTM1 PUF60 GLI3 POLA1 CTNND2 TRIP4 MGAT2 CENPJ RNF113A C2CD3 WNT5A PRMT7 TGFBR2 SF3B4 DGCR6 CEP120 PRKG1 TMEM70 MYMK ERF IGBP1 NAA10 COG6 SPATA5 CTBP1 TPM2 SKI CHST14 AP3D1 ASXL1 ACTA2 SUZ12 RSPO2 ARCN1 ZNHIT3 MBD5 MRPS22 SMAD4 DIS3L2 PLAGL1 RPL10 FRMPD4 KCNK9 NUP188 GTF2E2 MEGF8 MEG3 GLDN OCLN INTU ATP6V1A DLK1 RPS19 PAX1 SETBP1 ABAT SMAD3 ESS2 HYMAI HBA2 THOC6 ITGA8 MAGEL2 ELN MYH11 SYT2 POLR1A SPEG FBN1 MYLK EZH2 ORC4 PHGDH TELO2 SIX5 ORC6 OTUD6B DGCR8 BRCC3 SNRPN AUTS2 NARS1 DSE SELENON CEP55 ALG9 PIGN CDC6 SNAP25 FOXP1 EYA1 DVL3 RPL5 ACTB GLE1 SLC5A7 NUP88 SMOC1 RYR1 NBN MFAP5 RNU4ATAC SIM1 GAD1 RELN CCBE1 MPLKIP MSL3 NEPRO CHAT CHST3 ALG11 DVL1 CDT1 FTO COG7 AGRN TGFB2 ROR2 NFIX GMNN CTU2 FZD2 HPDL ACTA1 DHCR24 EBP BLM CRIPT KIF7 SEMA5A SLC18A3 RBBP8 SIX1 ADAMTS2 CEP135 TTN VAMP1 INTS1 ADAMTS3 LMNA CEP152 MAT2A MAMLD1 IGF1R ERCC3 PCNT SLC25A1 POLR1C CRLF1 SLC3A1 EP300 RSRC1 PMM2 SIN3A ATPAF2 COL13A1 EMC1 EIF4A3 COG5 CRPPA SMC1A NSDHL FUT8 HYLS1 DSTYK EED MADD BNC2 ERCC2 FDFT1 PUS7 KPTN COL3A1 ASPH MED25 SLC29A3 TGFBR1 FBXL3 ARID2 TMEM107 RTL1 MYH7 LAS1L ACTG1 B3GAT3 MOGS SLC6A9 ZC4H2 FANCB FOXE3 PIEZO2 PSMD12 BCL11A POLR3A HBA1 ZMPSTE24 TGFB3 CCDC88A IGF2 GBA TARS1 DGCR2 TCTN3 HSD17B4 GTF2H5 LTBP4 UBE3B AMER1 CANT1 COX7B COL1A2 KAT6A SLC35A3 HDAC8 LGI4 FOXE1 ODC1 SLC25A24 NDUFB11 MESD EDN1 TAF1 FAT4 FHL1 IBA57 NSMCE2 TBX1 CREBBP DYRK1A PREPL BMP4 TCOF1 TRIP11 CDC45 MYO9A RARB KAT6B PIK3C2A LOX NSD1 TASP1 EXOC7 SEC24D POLR1D RTTN SLC10A7 ORC1 ZBTB24 HCCS WDR35 COL1A1 KLHL7 ASXL2 FBXW11 OFD1 PSAT1 CSGALNACT1 FARS2 ARNT2 FAM20C BIN1 HP_COARSE_FACIAL_FEATURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_FACIAL_FEATURES CLIP2 INSR PIGW FBXO31 MED12 RPS6KA3 HPGD SOX4 TCF4 ACER3 TPO PGAP3 RNF113A AP4M1 LAMTOR2 AGA ATRX KCNH1 AP1S2 SUMF1 ARID2 CEP120 ABCC9 NKX2-1 SH3PXD2B AIP EXTL3 NAA10 PIGN ARID1B MAPK1 KIF15 SLC35C1 VPS33A NANS FMR1 IDS TG HEXB TBC1D24 FLNA MRPS34 DUOX2 GTF2E2 KRAS GTF2IRD1 ARID1A NEU1 GTF2I DYM SETBP1 L1CAM LHX4 AP4B1 AP4E1 ANTXR2 COL2A1 GNPTG KCNJ8 MAGEL2 RFC2 TBCK FUCA1 SLC17A5 ZNF148 PAX8 IDUA GPC3 MAN2B1 TSHB TBL2 RBMX DENND5A SLCO2A1 SNX14 GPC4 GPR101 GLB1 TSHR SMARCE1 ADNP PACS2 PHF6 STAT3 SUFU EXT2 SMARCA4 NAGA NF1 WDR26 MMP2 SMARCB1 MCTP2 C12orf57 HRAS PIGV SGSH GUSB LIMK1 DUOXA2 EHMT1 PIGL MPLKIP SETD2 MMP14 CNP BRAF POU1F1 CCDC47 AFF4 KCNN3 FTO OFD1 RIN2 CDKN1C BRCA1 HUWE1 FAR1 NOTCH2 NAGLU PTCH2 MBD5 CHD4 SLC5A5 MAP2K2 PROP1 NKX2-5 PIGB ERCC3 GNPTAB DPF2 SLC35A2 PGAP2 PIGA DNMT3A HDAC4 MYSM1 HNRNPK IYD TBC1D7 CUL4B PDE4D CLCN4 SLC26A4 GALNS PIGQ PLAA P4HTM SOX11 IGF2 ACTG1 BSCL2 APC2 PIGS GLA AP3B1 SVBP SMARCD1 AP4S1 ACTB PIGY MAP2K1 PTCH1 ERCC2 ABCA5 TARS1 TRHR CLIC2 GTF2H5 GJA1 GNS ARX KAT6B HESX1 MCOLN1 NSD1 FHL1 FOXE1 LHX3 MAP3K7 PUS3 WDR81 MPL PIGO BAZ1B ELN CTSA PIK3C2A BCORL1 AIMP1 HGSNAT KCNQ1 KCNQ1OT1 MEN1 WAC SOST SMARCC2 GNE AIFM1 ARSB KLHL15 CNTNAP2 HP_FACIAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_EDEMA CLIP2 KIF1A LTBP4 SOX18 TBL2 RECQL4 PIK3CD CDH11 DNMT3B SNX14 AIP POMP PEX5 SMCHD1 GNPTAB GPR101 SHANK3 SERPING1 ABCC9 HLA-DPA1 KAT6A COL5A2 FOXG1 FRMD4A MED12L TNFRSF1A ZNHIT3 SLC35C1 PSPH CTLA4 SUMF1 NEU1 ADAMTS3 MYD88 BAZ1B LIMK1 ELN ADAMTS2 ANAPC1 SLC29A3 CAMTA1 F12 PSMB9 ACTG1 PSMB4 GTF2IRD1 KCTD1 GTF2I DUX4 ANTXR1 PIEZO1 GSN EPHB4 HLA-DPB1 COL1A1 PTPN22 CCBE1 PEX2 RIN2 ACTB ALB PRTN3 RFC2 KPTN COL5A1 IGSF3 KNSTRN FRG1 HAVCR2 HP_BROAD_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FACE ZNF711 HDAC4 SNX14 SUFU TBL1XR1 PTCH1 IDUA FLNA FLNB RAI1 NFIA PDE4D UBE2A PTCH2 AGA BRAT1 TGFB3 HP_EPICANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS WDR35 CLIP2 PIGW NFIX PDHX SALL4 UNC80 PUF60 SOX4 BUB1B FOXL2 SMPD4 VEGFC COL5A2 XYLT1 CHD3 PEX5 WNT5A TBX1 ATRX IFT122 KDM6A RMRP FGFR3 SHANK3 ARID2 RB1 BRCA1 TSR2 TRMT10A KMT2A TCF3 FLT4 HNRNPH2 BPTF SCN4A TUBB PIEZO2 CHRND ZNHIT3 HIBCH MLXIPL PEX6 AFF2 KANSL1 CREBBP ZBTB24 OFD1 LIG4 ALX4 CPLX1 PEX2 SEC24C ADAMTS2 KRAS TBC1D24 MEG3 ITGA8 RIC1 SPART RPS19 KCTD1 GTF2I NSD2 DHCR7 FANCM ADA2 HBA2 THOC6 KCNJ8 KIAA0586 WDR37 TAF1 FIBP PTCH2 ALG3 SEMA3E SLC17A5 POU3F3 RPS23 KCNH1 PALB2 PDE4D MIR140 TBL2 BMPER AUTS2 GPC3 CHAMP1 FGF20 PEX26 DDR2 CHRNA1 IGHM MAN1B1 PIK3CA ALX1 XRCC2 GP1BB PEX13 NELFA INPP5E DYNC2H1 PPP1R15B HELLS DYNC2I2 MASP1 GPC6 NF1 DYNC2LI1 BRAF SHOC2 ACTB DHCR24 TRIO HRAS CASK LRRC8A LIMK1 TRAF7 XRCC4 MPLKIP MSL3 GJC2 GATA1 SEPTIN9 PTPN11 CBL COL18A1 EFTUD2 SPECC1L PEX3 NOTCH2 COL5A1 DCHS1 FZD2 RPS28 CERT1 RPS15A DNMT3B RAD51 DVL3 KIF7 SEMA5A PEX14 CHRNG DPH1 STAG2 RECQL4 SLC3A1 MAP2K1 GNPTAB CNTNAP1 DPF2 YWHAE GPC4 FGFR2 SIN3A PMM2 PGAP2 EIF2AK3 LETM1 FAT4 SPRED1 TMEM216 FANCD2 COMT RHOBTB2 COG8 DLX4 SETD1A WNT7A MADD RPL11 WDR73 FDFT1 CD96 ALX3 MED25 BLNK GJA1 KAT6B PTCH1 GLIS3 SHROOM4 BUB3 UGDH COLEC10 WDR19 PIGL ZEB2 HECW2 HOXB1 PIEZO1 ABCA5 SOS1 SC5D COA3 SMARCD1 PQBP1 DDX11 RPL10 PEX10 CTCF RAB23 RIT1 RPS10 COLEC11 KCNAB2 BCL11A SNX14 MPC1 HBA1 LONP1 PAFAH1B1 PPP1CB ERCC4 ERCC2 AHI1 SRY FGFR1 NONO HSD17B4 GTF2H5 UBE3B NSUN2 AMER1 MAN2B1 COL1A2 KAT6A BMP2 RPS24 OSGEP DOCK3 DVL1 FANCC IGLL1 UBE3A ARID1A RPL18 C12orf4 ELN PIK3C2A GATA4 GABRD PBX1 IFT80 PRMT7 TRIP13 AMACR MRPL12 NRAS UBE2T SMARCC2 RPL5 PHF21A TBCK MECP2 MAD2L2 RYR1 UGP2 TCTN3 CD79A PPP1R12A SMARCB1 KIF11 TRAPPC9 EXOSC9 GNE RERE TMCO1 SPOP PEX11B FLNA RPS6KA3 CTNND2 PGAP3 RNF113A ZNF469 REV3L ATP6V0A2 SIX2 FGD1 MYMK NAA10 COG6 SLC26A2 UFD1 B9D2 MAPRE2 VPS53 MAPK1 SLX4 VPS33A NANS RAF1 KAT8 BUB1 DIS3L2 FANCB COL11A1 NUP188 B4GALT7 GTF2E2 ZNF462 NOTCH3 MEGF8 FAM149B1 GTF2IRD1 DLK1 DNAJC21 COL1A1 ARID1B RREB1 CPLANE1 TRRAP CD79B RPL35 RPL15 RFC2 RPL31 TRIP12 ANK1 HIRA PDE6D ZBTB18 ZNF148 VPS51 GATA2 PEX1 EZH2 PRKAR1A KIF1A SOX18 PIGN ALDOA RAB3GAP2 RSPRY1 FANCI KIAA0753 ALG9 ATN1 MYH3 ZMIZ1 SMARCE1 MED12 RPL26 KDM6B TCF20 SON RET SMARCA4 FOXG1 CNOT1 RAD51C SKI SUFU BRAT1 CAMK2A BCL11B PIGV CCBE1 CDK13 EEF1A2 ADAT3 DHX30 FANCE TBX2 PURA ACOX1 COL3A1 JMJD1C CDCA7 TUBB3 TBX22 TLK2 MAP1B CHD4 MAP2K2 UQCC2 RPL27 PHIP PPP2CA INTS1 ADAMTS3 DMXL2 ERCC3 PEX12 TWIST2 ABCC9 IFT43 TWIST1 NBAS MAB21L2 CUL4B QARS1 NXN NSDHL PEX19 RPS17 GREB1L EBP BRIP1 PUS7 NR2F1 EED DDX6 SOX11 RTL1 ACTG1 TOE1 CHRNA7 LMBRD1 AP3B1 SVBP CDK10 WAC RPL35A PRDM16 FBXL4 PIGY SOX5 RPS7 SLC25A24 PNPLA6 CCDC88A PEX16 CEP57 DNMT3A EXT2 TARS1 DYNC2I1 WDR4 FANCF PLXND1 MED13L TMEM237 ALDH6A1 HUWE1 EP300 CTBP1 SNRPB CHD7 ARVCF BRCA2 IFT52 ROR2 TPRKB FGFRL1 FLI1 RPS26 SYT1 PREPL RPS29 PLOD1 CSPP1 TBX4 PIGO BAZ1B SMC1A TASP1 DHX16 FANCL HK1 MYCN RFWD3 PIK3R1 FANCG HNRNPU FANCA PIGU RPS27 CSNK2A1 EBF3 PAH GATAD2B HIC1 HP_ABNORMALITY_OF_THE_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHILTRUM WDR35 CLIP2 NFIX UNC80 PUF60 CDH11 SOX4 HES7 ACER3 NALCN AP4M1 XYLT1 WNT5A ATRX PRMT7 QRICH1 DMD MAP3K7 SHANK3 GDI1 MGP SIX3 MTOR MMACHC GPC6 CXorf56 CREBBP POGZ TRPS1 B3GALT6 MAN1B1 HDAC8 DISP1 ARHGEF6 RIC1 NSD2 DHCR7 DSE THOC6 NSUN2 ACTL6A KCNJ8 SEC23A WDR37 RAD21 NODAL NEB NECTIN1 BPTF KCNH1 BRF1 TBL2 TBR1 BRCC3 ALG9 CHAMP1 COX7B DEAF1 PIK3CA CLCF1 GP1BB UPF3B GAS1 ADNP LMX1B SETD5 NELFA ABCC8 TXNL4A MUSK TCF4 MYOD1 CPLX1 DYNC2I2 IQSEC2 PYCR2 NF1 KCNK4 ACTB VAC14 SATB2 OBSL1 NBN RAB3GAP2 LIMK1 HRAS GRIA3 MSL3 CCDC8 SMARCA2 ALG11 CKAP2L COG7 DHX37 EXT2 SMS SPECC1L PITX2 TMEM70 HPDL DVL3 SMC3 KIF7 CHRNG TBC1D20 KIFBP SHH NOVA2 IGF1R MAF COL2A1 HSPG2 MOCS1 ADSL PUS1 SIN3A PGAP2 TTC37 KMT2E COMT RHOBTB2 MADD MARS2 MECP2 MED25 GLIS3 CRKL UGDH FLCN HDAC6 RTL1 PIGS PIGL ALX4 DLL1 SMARCD1 PQBP1 AP4S1 RPL10 CNKSR2 MAP2K1 MPC1 ATP6V1B2 C12orf57 B3GLCT PPP1CB GLI2 AP4B1 NONO DLL3 LTBP4 UBE3B CANT1 RAB3GAP1 TRAPPC9 TRIP11 SLC25A24 BMP2 TAF1 DVL1 NOTCH3 FRMPD4 ATP6V1E1 PSMD12 METTL5 ARID1A CTNNB1 OPHN1 DLK1 TENM3 ZEB2 ELN IFT80 IREB2 SC5D ANTXR1 CUL7 SMARCC2 LRRC32 ATP6V0A2 TBL1XR1 FTSJ1 PAX3 HCFC1 WDFY3 MEIS2 PTCH1 PPP1R12A RERE TET3 KIT PGAP3 LTBP3 SUMF1 DOCK7 PIGV FZD2 APC FLNA USP9X MYT1L PIGN UFD1 MAPK1 SUZ12 TRMT1 FBXO11 ACTL6B SMC1A NUP107 RAI1 SRCAP DIS3L2 ANKRD11 TBC1D24 ZNF462 ALG13 MED13 OCLN GTF2IRD1 NEK9 AP4E1 BMP1 TRRAP RFC2 TRIP12 ZBTB18 GATAD2B ADAMTSL1 TUBB EZH2 BCR KCNJ6 DDX6 DENND5A KDF1 ERCC6 PRKDC ZMIZ1 PTPRF SMARCE1 MEF2C ERLIN2 LRP4 SON CNOT3 CNOT1 CDH2 MCTP2 EXOC6B CCBE1 CDK13 RUNX2 CHST3 TRAPPC4 RIN2 PEX26 KCNK9 MRPS28 JMJD1C STAG2 FBN1 CRTAP ACTA1 PHIP PPP2CA ZIC2 INTS1 ADAMTS3 CSNK2B CRLF1 XYLT2 ZNF81 UBA1 DDX59 CUL4B KRAS SLC2A10 CASK PUS7 PIGQ PLAA SOX11 COL11A2 MYMK ARID2 SVBP LARP7 ACTG1 SLC26A2 CDK10 ZC4H2 NIPBL PRDM16 PIGY SLC45A1 KIF11 MTX2 CLCN4 SUFU TWIST1 PRKACB PPP2R5D MYH3 TAF6 RLIM ALDH6A1 PTCHD1 ARVCF RNU4ATAC FLI1 AVP CDC6 TOR1A SYT1 AFF4 ABCC9 TALDO1 PPP2R3C PIGO BAZ1B METTL23 EP300 NSD1 TRIO WDR19 HNRNPU GNE TFAP2B LFNG PIGU PCLO TAB2 PAH MYO18B PSAT1 ATP7A DPM1 PIGW RAC3 SMPD4 MED12 NEXMIF TBX1 AP1S2 SLC6A17 BCOR TRMT10A KMT2A CHST14 HNRNPH2 NRAS MLXIPL SLC35C1 FREM1 ARX OFD1 FBXW11 OCRL SEC24C GTF2I SETBP1 PTEN FGFR2 SLC35A1 COL11A1 MIR140 OTUD6B TFAP2A DOCK3 AUTS2 SNX14 ARHGEF2 NXN POR DYNC2H1 PPP1R15B SHOC2 SHMT2 RAB18 CNTNAP2 NTNG1 TCF20 BRAF UBE2A CBL NFIB PURA ADAMTSL2 ERCC1 NOTCH2 CERT1 CAMTA1 MAB21L1 KLHL41 PIGB EIF2S3 GNPTAB DPF2 PMM2 PAK3 LETM1 DNMT3A TMEM94 IFIH1 ALG8 EED MESP2 PDE4D CD96 COL3A1 PKDCC ERMARD B3GAT3 AGTR2 HOXB1 CTCF COLEC11 KCNAB2 POLR3A RIPPLY2 IFT57 STXBP1 CAMK2G HSD17B4 ATP6V1A EXOSC2 ZNF41 FGD1 CDC42 DYRK1A MEG3 ALG12 SLC9A7 KCNJ11 DPM2 CDON ZDHHC9 TGFB3 GABRD PBX1 EXOC7 COG1 ORC4 PHF21A PDHA1 PARS2 PIGT UGP2 CLTC INPPL1 KAT6B SMARCB1 CSGALNACT1 FGFR1 PACS1 SPOP RNF135 TNNI2 SH3PXD2B EXTL3 NAA10 FLII ARID1B AP3D1 KIF15 MID1 MAPK8IP3 SNAI2 PIEZO2 NOG TPM3 RPS6KA3 VPS13B RREB1 MOCS2 TBCE TANC2 CCDC22 MAGEL2 TBCK HIRA ZNF148 VPS51 DLG3 NKAP KDM5C PHGDH BCL11B TGIF1 CDKL5 NRXN1 ATN1 SMAD4 PRKACA FGF8 SMARCA4 FOXG1 MED12L SKI TUBGCP2 BRAT1 SMOC1 GAD1 PTH1R CHSY1 IFT81 TMCO1 ACSL4 ROR2 PLOD3 FAR1 NLRP1 IRX5 MAP1B PRDX1 MAP2K2 ITCH MYH8 NBAS EMC1 CCNK SYP MID2 BUB1B EFTUD2 BRPF1 FIG4 ZNF711 AP3B1 GJA1 PAM16 DYNC2I1 CLIC2 TCTN3 EXT1 GALNT2 IARS2 TMEM237 HUWE1 CTBP1 SNRPB TSPAN7 RAB39B KAT6A FGFRL1 FAT4 WDR4 USP27X TDGF1 FGF3 BCORL1 TASP1 FOXH1 TWIST2 RTTN IL1RAPL1 MAPRE2 YARS2 EBF3 WNT4 HP_BROAD_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHILTRUM COLEC11 PIGW PIGY WDR35 PIGL SNX14 RAC3 KCNK9 ZNF462 TBL1XR1 DPF2 ERMARD PGAP3 TMCO1 FGD1 MAF ALX4 PIGV PGAP2 SMARCA2 PIGO CDH11 HP_ABNORMALITY_OF_THE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREHEAD WDR35 KDM1A CLIP2 LRP5 NFIX UNC80 PUF60 GJA5 TRAK1 WDR62 CDH11 HES7 ACER3 YY1 AP4M1 CHD3 PEX5 WNT5A ATRX IFT122 PRMT7 RMRP SUZ12 ABCC9 BRCA1 FLNA LARS1 PEX12 ZIC1 ACOX1 ZFPM2 TTC37 SLC1A2 ERF KCNA1 CCDC22 NOTCH2 MTOR MMACHC GPC6 ACP5 THOC2 FMR1 PSPH PEX6 CTNS KDF1 PREPL CREBBP PIGQ CEP55 TRPS1 FGFR1 FGFR2 PAK1 LIG4 SIK1 GJA8 TBC1D20 PIK3R2 HDAC8 FRMPD4 SEPSECS GDF1 ARID1A DYM KIFBP NSD2 DHCR7 PIK3R1 ASXL1 FANCM ADA2 CTSD DSE THOC6 PPM1B ACTL6A RNU4ATAC KCNJ8 SEC23A KIAA0586 ARX WDR37 BSCL2 FUCA1 KIF7 SYT2 STAT3 NFIA OFD1 ALDH18A1 KCNH1 AP1S2 TMEM107 FGF10 TBL2 SPTB B3GALT6 GABRA2 ALG9 MAP11 FAM111A COX7B DEAF1 PEX26 GATA4 ACTB PIK3CA XRCC2 SOS1 EPB41 ADNP LMX1B CCNQ SETD5 NELFA ABCC8 POLE DYNC1H1 TCF4 HERC2 MYOD1 DYNC2I2 PYCR2 ERCC5 MKS1 COG4 CARS1 NF1 KCNK4 SKIV2L ORC1 TSEN54 TTI2 MSX2 VAC14 SATB2 OBSL1 NBN LIMK1 SIM1 SHPK RELN RNF13 HRAS GPAA1 PEX3 CLCN7 SCN1B CCDC8 CHAT ALG11 CKAP2L COG7 CACNA1A EXT2 GMNN LBR SPECC1L ATAD3A LAGE3 ODC1 TCF12 NPAP1 RPS15A LRP4 RAD51 YWHAG DVL3 SMC3 SNORD116-1 SLC18A3 DPH1 PYCR1 CCND2 VAMP1 NOVA2 PLAG1 MN1 AIP RECQL4 MAF HSPG2 MOCS1 YWHAE ADSL NCAPG2 BPNT2 RBM8A SIN3A SIX6 TMEM216 ACAN ATIC KMT2E FANCD2 KCNB1 RLIM GPKOW HMGA2 FUT8 CDK8 DLX4 MKRN3 SNORD115-1 MADD TBC1D7 RPL11 TONSL RPS19 RTL1 TUBGCP6 ALX3 MED25 KATNB1 AARS1 TECPR2 NAA10 PTCH1 BUB3 TCTN2 RUNX2 GRIN2D FLCN HDAC6 NTNG2 PIGS WDR19 PIGL HECW2 NCAPD2 ALX4 PEX13 AP4S1 RPL10 PEX10 FGFR3 PEX2 COL1A1 RPS10 MAP2K1 SLC16A2 ATP6V1B2 ZBTB20 C12orf57 PAFAH1B1 B3GLCT AP4B1 SLC34A3 PIGK PEPD D2HGDH EFNB1 NONO CENPJ DLL3 SIK3 ZSWIM6 NUS1 LTBP4 SLC25A24 SNX10 RBM10 NSUN2 AMMECR1 AKT3 TRIP11 MBTPS1 LGI4 PHF8 NSD1 TAF1 KCNJ2 DVL1 RPS28 GJA1 TTC7A FANCC ASNS FLNB PSMD12 TRPV4 MDH1 NDN B4GALT7 RRAS OPHN1 DLK1 PPP2R1A BMP4 VDR RNF113A KAT6B ELN FOS TAF13 SLC39A13 SPOP RIT1 GABRA5 SPRTN TWIST1 IFT80 AMACR CIT SC5D ANTXR1 CUL7 HNRNPK NRAS DCHS1 RPL5 WAC TBCK IGF2 MAD2L2 INTS8 CWC27 AIFM1 TBL1XR1 KIDINS220 EMG1 ATP6V0A2 KNSTRN EDA WDFY3 MEIS2 SMARCD1 TSEN2 TRAPPC9 INPPL1 RERE TMCO1 SNRPN POC1A VPS33B PEX11B TET3 KRAS CDH1 NTRK2 PTDSS1 COX4I1 RRAS2 DOCK7 FZD2 SIX2 APC USP9X MYT1L PIGN NUP133 B9D2 VPS53 CYP27B1 MAPK1 SLX4 AMER1 NANS TRMT1 FBXO11 ACTL6B GABRB2 SMC1A NUP107 DIS3L2 LEMD3 ANKRD11 POLR2A ITCH FOXC1 TBC1D24 ADK SOX6 NUP188 ZNF462 MED13 OCLN INTU FAM149B1 GTF2IRD1 ETFB SZT2 ADAM22 CDK5RAP2 AP4E1 BMP1 STXBP1 SEC24D TRRAP RPL15 RFC2 PALB2 ITGA3 TGFB1 PDE6D ZBTB18 SLC25A46 NALCN GATAD2B ADAMTSL1 STAT5B B9D1 DYRK1A ATR PMM2 KNL1 KCNJ6 PIK3CD DDX6 DENND5A SASS6 KIAA0753 WASHC5 ERCC6 FREM1 PRKDC GATA1 NLRP3 MEF2C PSAT1 KDM6B HCN1 CDK19 SON FOXP1 CNOT3 SUFU GHR SOX2 CNOT1 INSR CDH2 IDUA EZH2 STRADA SHOC2 CCBE1 SETD2 ADAT3 MBTPS2 TRIO NEPRO FANCE CHST3 FBN1 CAVIN1 NEUROD2 TRAPPC4 PURA KCNN3 STIM1 NKX2-5 COASY KCNK9 GK CTU2 PDGFRB CEP290 FAM50A CBL STAG2 PLA2G6 NPR2 PTCH2 ZMIZ1 EDARADD RPL27 ETFA PHIP PPP2CA PEX14 INTS1 ADAMTS3 RSPRY1 SLC25A1 PITX2 DDX59 MAB21L2 TMEM231 QARS1 IARS2 RSPO2 GATA6 ALX1 CRPPA GPT2 H19 GPC4 CASK EBP TRIM8 IKBKG ASPM HBB CC2D2A KCNJ11 P4HTM NDE1 STIL ARID2 SVBP ACTG1 NKX2-6 SLC26A2 METTL5 POU1F1 CHRNA7 ANKLE2 ZC4H2 NIPBL HERC1 RPL35A DLX3 PRDM16 SOX5 RPS7 NEU1 IL2RA TFAP2A PEX16 RAI1 CEP57 DNMT3A KIF11 MTX2 AGPAT2 ALPL CTSK FANCF PRKACB PPP2R5D PCGF2 SLC13A5 TAF6 GNPAT MED13L ALDH6A1 EDAR EP300 IER3IP1 IFT52 GLI3 WDPCP CDKN1C FLI1 SERPINH1 CYFIP2 CDC6 HDAC4 CPT2 SYT1 TSEN34 RPGRIP1L AFF4 CSPP1 PPP2R3C BAZ1B MYO9A GLB1 EDA2R BRAF FANCL EEF1A2 KCNQ1 PRKD1 KCNQ1OT1 TBX1 HS6ST2 SH3PXD2B KIF14 POLR1D HNRNPU FRMD4A GNE TFAP2B LFNG PIGU KLHL7 TAB2 STAMBP PAH MYO18B P4HB PHEX ATP7A DHDDS ABL1 IFT43 ARV1 PPARG BUB1B COL11A1 SMPD4 MED12 NEXMIF FBN2 SCYL2 GABRG2 FARSB KCNJ1 TSR2 IGBP1 TRMT10A TENT5A KMT2A SKI CEP152 CHST14 RPGRIP1 MFSD2A TSEN15 CTNND1 MLXIPL SLC35C1 MBD5 COPB2 SUMF1 NECAP1 FBXW11 CYP2R1 CPLX1 NCAPH PDX1 OCRL MEG3 GTPBP2 GTF2I SCN8A SETBP1 PTEN HBA2 PLK4 CHD1 PRUNE1 KYNU NPHP3 SLC3A1 FRAS1 SOS2 MIR140 TP63 DOCK3 IGF1 TRIM37 SNX14 MAN1B1 SLC25A22 NXN INPP5E POR DYNC1I2 DYNC2H1 SNAP25 RBBP8 GATA5 PPP1R15B MAP3K7 MITF UPF3B DHCR24 PWAR1 PEX19 C2CD3 XRCC4 CNTNAP2 MCPH1 GCK PEX1 NTNG1 TCF20 SCN3A CCDC47 KANSL1 UBE2A KCNA2 NFIB AGRN MRAS CAMTA1 CRIPT CDKL5 MAB21L1 CEP135 ZIC2 LARP7 NID1 PIGB PCNT POLR1C GNPTAB EIF2AK3 LETM1 COL13A1 ASXL3 COG5 IFIH1 VIPAS39 PHC1 POLR3A SETD1A EED MESP2 PDE4D SMG9 WDR73 KPTN ETFDH PKDCC ERMARD B3GAT3 AMPD2 PEX7 ZEB2 NFKBIA DDX11 SCN2A CTCF COLEC11 AP1S1 KCNAB2 RIPPLY2 HBA1 DMXL2 KATNIP IFT57 ORAI1 ERCC4 TAZ FLT4 CAMK2G SYNJ1 HSD17B4 GNAO1 SLC12A2 EXOSC2 MAN2B1 PIGY KREMEN1 KAT6A FGD1 CDC42 TCIRG1 RPS24 OSGEP DICER1 SOX9 BRWD3 UBA5 SMARCE1 DPM2 RALGAPA1 RAB3GAP2 SRC RPL18 CNKSR2 ZDHHC9 SLC12A6 PIK3C2A GABRD BCORL1 TRIP13 SLC25A19 MEN1 UBE2T SOST ADARB1 PDHA1 PARS2 RYR1 PIGT UGP2 TCTN3 LRPPRC SP7 DNM1 RAD21 CSGALNACT1 PACS1 RNF135 RAB18 RPS6KA3 CPOX RASA2 SH2B1 EXTL3 CTBP1 DOCK6 FLII MID1 VPS33A ZNHIT3 CDK6 BUB1 FANCB STAT6 JAG1 NOTCH3 MEGF8 BMPR1A VPS13B GRIN1 SLC9A7 MOCS2 TBCE TANC2 CPLANE1 MAGEL2 RPL35 NHEJ1 SMAD3 RPL31 ZNF148 PNKP IFT140 DDR2 KDM5C PHGDH CENPE CLTC KDM5B NRXN1 LIFR A2ML1 FANCI NARS1 PUM1 COX5A GPR101 ATN1 MYH3 RAF1 COL1A2 CAMKMT RPL26 ZNF335 PTHLH FOXG1 MED12L HOXD13 RAD51C SYNGAP1 MMP2 FAT4 ATP6V1A TUBGCP2 GLE1 SLC5A7 BMP2 SMOC1 PPM1D COL27A1 IFT81 RAB39B IQSEC2 TBX2 ROR2 KIF22 MAP1B PRDX1 MAP2K2 GYPC TAPT1 TBX15 CEP63 NCAPD3 TWIST2 FGF12 NBAS SLC6A8 EMC1 PIGP RPS17 MGP CUL4B VPS35L CCNK LRP2 RNF125 BRIP1 EFEMP2 RNPC3 SMARCA2 COL2A1 DALRD3 PTPN11 BGN CAV1 BRPF1 FIG4 APC2 PPP3CA AP3B2 CCDC88A PAM16 ACTG2 PPP1CB DYNC2I1 EIF2S3 GNS GALNT2 FH TMEM237 HUWE1 TRAF6 BPTF BRCA2 MPDZ PWRN1 FGFRL1 RPS26 RARS2 TMEM67 WWOX WDR4 TUBGCP4 CACNA1B INS RPS29 TBX4 TCOF1 TASP1 DPF2 IL11RA HK1 LZTR1 RFWD3 FANCG RTTN ERCC2 NAB2 SPTA1 FANCA VARS1 RPS27 EBF3 ERCC1 CITED2 ARNT2 WNT4 HIC1 HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE ZMPSTE24 KCNJ6 ERCC6 LMNA POLR3A PSMB8 LMNB2 PPARG ERCC8 HP_FULL_CHEEKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FULL_CHEEKS TBCE PUF60 TCF4 INTS1 PLCB4 AIP PIGB TMEM216 HSPG2 CRLF1 IFT122 MOCS1 PPP1R15B MAP3K7 SHANK3 LARS1 ELMO2 KRAS EXTL3 TMEM231 STX16 TRMT10A NEK9 DPYD HRAS RPGRIP1 GNAS NRAS SETD1A ZNHIT3 ASXL1 ELN IDS MLXIPL VPS33A PCNT PSPH BRAF CREBBP CEP55 CDK5 PIGQ IARS1 CC2D2A OCRL FLNA TCTN2 SETD1B SLC29A3 TECPR2 SOX11 ACTG1 SH3BP2 SC5D GNAI3 MOCS2 ACTB SLC26A2 B9D2 PIK3CA MAP2K1 LMNA WDR19 CCDC88A KIF11 STXBP1 TAZ KCNH1 B9D1 TMEM107 IDUA KIF1A EIF2S3 FBN1 SNX14 AGL GPR101 KLHL7 CLCF1 PAX1 BMP2 IER3IP1 LMX1B PIGN ATP7A WDPCP EDN1 KDM6B SON TMEM67 EYA1 MKS1 FBLN5 WDR26 RPGRIP1L CSPP1 AFF4 TGDS NALCN FGF3 NOTCH2 DLK1 SIM1 EP300 GATA4 ALDH18A1 SH3PXD2B H1-4 WAC KMT2E PURA WDR35 CEP290 IFT52 TBL1XR1 KIDINS220 PCLO STAG2 MEG3 MAP2K2 RTL1 HP_LOW_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ANTERIOR_HAIRLINE SH2B1 PPARG PACS1 SMPD4 POLR1C HSPG2 TWIST2 FGFR3 ABCC9 DOCK7 FGFR2 TWIST1 ZIC1 TSR2 TRMT10A EMC1 DOCK6 SMC3 SMC1A RPS17 ASXL1 SLC35C1 RPL11 NANS RPS19 SMARCA2 LIG4 TBC1D20 TECPR2 HDAC8 TBC1D24 CAV1 ERMARD PEPD ARID1A SVBP ADA2 VPS13B NIPBL RPL35A KCNJ8 RPS10 RPL35 RPL15 RPS7 KMT2A SETD5 BSCL2 RPL31 AGPAT2 KCNH1 SLC25A24 NSUN2 TAF6 IGF1 MAN2B1 MED13L KREMEN1 EP300 RPS24 GATA1 TCF12 RPL26 PPP1R15B RPS26 RPS28 MAP3K7 FRMD4A INSR CREBBP SMARCE1 DPM2 RALGAPA1 RAB3GAP2 RPS29 RPL18 NOTCH2 TCOF1 NBN XRCC4 FOS SLC12A6 ANKRD11 CAVIN1 TBX2 KCNN3 COG7 RPL5 POLR1D BRCA1 AIFM1 RPS27 LRPPRC KLHL7 RPS15A STAG2 RAD21 ARX PIK3C2A MAB21L1 TMCO1 SPOP RAB18 RPL27 HP_FACIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPOTONIA KDM5C MAN2B1 STAG2 MECP2 TET3 STRADA UNC80 PCGF2 CHAMP1 GRIA3 AP4M1 AMPD2 NGLY1 PPP2R1A POGZ XYLT2 DSE AP4E1 AP4S1 HERC1 ZMIZ1 PURA ATRX MYOT PAX7 TBCD AP4B1 GAA YY1 KCNK4 POU3F3 CAMK2G RAB11B ZBTB11 PPP2R5D VPS13B HP_MASK_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASK_LIKE_FACIES TK2 KCNJ6 EIF2AK2 SLC6A8 DNMT3B PLXND1 DCTN1 HSPG2 SMCHD1 TBP PABPN1 MYH3 PDGFRB REV3L NR4A2 TRIM32 KDM6A GBA ATP7A ATXN8OS FA2H KMT2D ATP13A2 MAPT PRNP UBE3A GLUD2 FMR1 UBA5 ITPR1 PAX6 FKTN MTM1 POLG ATXN2 ATP6V1A DUX4 PDGFB TH PANK2 ADH1C PIEZO2 SNCAIP FRG1 ACTA1 SLC20A2 ATP6AP2 MRE11 HP_OVAL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVAL_FACE TP63 EBF3 B3GALT6 SOX18 CNTN1 SH2B1 HYOU1 PUF60 NFIX TSPEAR ADARB1 CASK HP_ABNORMALITY_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE NOD2 UNC80 VCP PPP2R2B SOST COX6A2 AP4M1 STRADA CHRND COL6A1 PEX19 SMARCE1 DMD GDI1 BTNL2 EYA1 ACTN2 GMPPB MYH7 POGZ PPP2R5D ARHGEF6 MYL1 PEX1 CLCF1 NEB GSN POMT1 DSE PEX10 AGRN NEFL TP63 SYT2 SEMA3E RYR1 GAN SPEG CC2D1A ANKH CHRNA1 MSTO1 POU3F3 SMARCB1 ADCY5 CRPPA POLG2 CHAMP1 SCN4A FTL UPF3B NGLY1 GNE SELENON ATP13A2 SNAP25 TXNL4A CHRNB1 COL6A3 PEX13 SALL4 IQSEC2 SYNE1 GAA KCNK4 DOK7 ADSS1 SHMT2 SLC18A2 IRF6 MTM1 AKT1 ANO5 GRIA3 IRF2BPL HLA-DRB1 CLCN7 SLC39A14 CHAT C12orf65 SPR CAPN3 CHRNE RNASEH1 NARS2 PAX7 YME1L1 MYPN LRRK2 ACTA1 SH3TC2 YY1 TPM3 NF2 DMPK GBA GFPT1 TNFSF11 SLC18A3 PEX11B RAB11B SIX1 TTN STAG2 MUSK VAMP1 POMT2 PEX12 TRAF7 KLHL41 CNTNAP1 PLEC PAK3 COL13A1 LRP5 COL4A1 TUBB3 DCTN1 MECP2 ACADS SLC30A10 JAM2 LARGE1 TWNK PEX6 TECPR2 MTMR14 AMPD2 AGTR2 SQSTM1 HOXB1 TREX1 AP4S1 CNKSR2 GJC2 SUFU AP4B1 BIN1 MPZ CAMK2G ABCA1 TK2 SNX10 AMER1 LRP4 ZNF41 LRP12 TCIRG1 ASAH1 PLA2G6 DNA2 KLHL40 SLC9A7 LAMB2 FRMPD4 DES ADGRG1 CHCHD10 CXorf56 SLC25A21 PPP2R1A SLC12A6 SRPX2 TPM2 AP4E1 ATP1A3 SYNJ1 FTSJ1 HCFC1 DLL4 FKRP NUTM2B-AS1 TET3 DNM1L ATP6AP2 PTDSS1 SLC6A3 PODXL TRPV4 REV3L ALG2 MYMK ITGB4 POLG ABCD1 VPS35 PEX5 DNAJC13 TUBB6 CRYAB SLC5A7 TRIM32 RPS6KA3 MEGF10 SLC52A3 TGFB1 SMCHD1 MGME1 BAP1 PEX14 DLG3 PRKCG LMOD3 KDM5C MAN2B1 SPTBN4 SIX5 COL6A2 CACNA1A SNCA ADA2 ZMIZ1 PDGFB CHD7 FBXO7 CACNA1S USP9X PEX26 MT-TN PTRH2 DNM2 GLE1 ATP1A2 SLC25A42 ATXN1 NECTIN1 EIF4G1 ALS2 CFL2 MED12 PURA SCO2 ACSL4 MYOT KCNK9 DNAJB6 SMO VPS13B AK9 COL12A1 TERT SLC25A1 DNAJC6 CRLF1 SURF1 BAG3 XYLT2 ZNF81 ATRX CHKB UBA1 SLC25A4 TBCD RRM2B PYROXD1 SYP MID2 PLAA ZNF711 SCN1A SUCLA2 ZC4H2 HERC1 KBTBD13 RAPSN PEX16 ALG14 TFAP2A COLQ KY CLCN4 ALG13 FRG1 GJA1 SLC52A2 PCGF2 PLXND1 DPAGT1 MSX1 PTCHD1 TSPAN7 RAB39B PEX3 USP27X ARX FKTN OPA1 BMS1 PABPN1 MTMR2 MYO9A GIGYF2 PUF60 SGCD HK1 FLNC LAMA2 PI4KA IL1RAPL1 PRRT2 GIPC1 PIK3CA MT-TE EBF3 PEX2 ADCY6 SPTBN2 ZBTB11 HP_MANDIBULAR_PROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_PROGNATHIA APC2 INSR PIGW CACNA1G APC PPARG CDH11 PQBP1 PGAP3 SMPD4 LRP5 ERCC4 GORAB PTDSS1 AGA TONSL KCNH1 SUZ12 TNNI2 AP1S2 SLC9A6 SH3PXD2B PIGV SLC6A17 TWIST2 PAX3 PYCR1 FLII CXorf56 BSCL2 ERCC6 SLC35C1 FMR1 RAF1 POGZ RAI1 OCRL FAM20C RPL10 NSD1 KCTD1 PDE4D MSTO1 MAGEL2 TBCK PTCH2 ANKH RPS6KA3 ADAMTSL1 EZH2 PRKAR1A GPC3 KDM5C MAN2B1 SOX18 NRXN1 DEAF1 SELENON GPR101 GLB1 MYH3 SMAD4 KDM6B TXNL4A FOXP1 CNOT3 RUSC2 ACAN SUFU ADAMTSL4 MYOD1 FOXG1 FGFR2 LRP4 SFRP4 ERCC1 ERCC8 EHMT1 CNTNAP2 PIGL OPHN1 HERC2 GRIA3 IQSEC2 CAVIN1 TGFB1 PTPN11 AIMP2 FGFR1 SMS ATAD3A SOST GFPT1 DLK1 TNFSF11 TTN CHRNE STAG2 AIP CSNK2B MAF PMM2 PGAP2 ATRX SLC6A8 DNMT3A GNPTAB TBC1D7 CUL4B RNF125 CLCN4 KPTN GPC4 ATP10A MED25 GALNS DYM P4HTM PTCH1 MYH7 CAV1 FLCN ZEB2 UPF3B UBE3A FBN1 HERC1 MEG3 PTEN SNRPN PIGY RTL1 SLC25A24 COLQ CA2 AGPAT2 TAZ NHS IL1RAPL1 CLIC2 RECQL4 SETD2 RUNX2 GJA1 PRKACB PCGF2 SLC12A2 MED13L IARS2 AP4M1 MESD KAT6A DOCK3 TPRKB LAMB2 HNF1B LTBP3 PIGO NFIX RNF113A FOS PUF60 IDUA HS6ST2 ANTXR1 MEN1 CUL7 OCA2 FBXW11 KIF11 HNF4A MYH8 POC1A SVIL HP_ABNORMALITY_OF_THE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHIN APC2 ABL1 CLIP2 PIGW PPARG CDH11 NALCN YY1 SMPD4 AGA KCNH1 SUZ12 SHANK3 AP1S2 SLC9A6 SLC6A17 TWIST2 NOTCH2 MTOR CXorf56 SLC35C1 FMR1 KANSL1 MBD5 POGZ LRP5 COA6 MAN1B1 OCRL FAM20C NSD1 CYP26C1 KCTD1 GTF2I KIFBP PIK3R1 THOC6 NSUN2 MSTO1 TAF1 BSCL2 PTCH2 PLK4 SEMA3E NFIA CHD1 PDE4D ANKH TBL2 CHAMP1 COX7B DEAF1 SNX14 DDR2 GLB1 SPECC1L DNM1L LMX1B TXNL4A RUSC2 ACAN MAP3K7 MYOD1 CCDC8 ACTB SFRP4 HRAS ERCC1 VAC14 OBSL1 ERCC8 LIMK1 CNTNAP2 RNF13 HERC2 GRIA3 PTPN11 IGF2 DHX37 SMS ATAD3A HUWE1 SOST CAMTA1 GFPT1 TNFSF11 CHRNG TTN CHRNE STAG2 AIP PIGB PAX3 EIF2S3 MAF PMM2 NFIX PGAP2 DNMT3A TMEM94 POLR3A TBC1D7 CLCN4 KPTN GPC4 TUBGCP6 MED25 FLNA RPL10 DYM PTCH1 CRKL UGDH MYH7 FGFR2 FLCN ACTG1 PIGS ZEB2 UPF3B UBE3A PQBP1 FBN1 PTEN MAPK1 KCNAB2 STXBP1 CA2 TAZ NHS IL1RAPL1 RECQL4 SETD2 RUNX2 SLC12A2 MAN2B1 PIEZO2 SLC25A24 DOCK3 LAMB2 GJA1 ATP6V1E1 OPHN1 LTBP3 GORAB PRKAR1A RNF113A ELN FOS GABRD SPOP IDUA ANTXR1 MEN1 CUL7 ERCC6 AP4E1 PARS2 KNSTRN MEIS2 FBXW11 KIF11 FGFR1 RERE MYH8 POC1A LMNA INSR CACNA1G APC PGAP3 ERCC4 PTDSS1 TONSL TNNI2 SH3PXD2B PIGV PYCR1 FLII ARID1B RAF1 RAI1 ANKRD11 KDM3B ITCH ALG13 BMPR1A GTF2IRD1 MAGEL2 RFC2 TBCK ZNF148 RPS6KA3 ADAMTSL1 DST EZH2 GPC3 KDM5C BCR SOX18 KCNJ6 PIK3CD NRXN1 SELENON GPR101 MYH3 SMAD4 PRKDC MEF2C KDM6B FOXP1 CNOT3 SUFU ADAMTSL4 FOXG1 MED12L LRP4 CDH2 SKI EHMT1 PIGL PTF1A FGF3 IQSEC2 CAVIN1 TGFB1 AIMP2 CTU2 PDGFRB TBX22 TLK2 MED12 DLK1 CSNK2B TRPS1 ATRX SLC6A8 GNPTAB CUL4B RNF125 PORCN ATP10A GALNS ERF P4HTM EDA CAV1 SOX11 FIG4 CDK10 HERC1 WAC MEG3 SNRPN PRDM16 PIGY SETBP1 RTL1 ZMPSTE24 TFAP2A COLQ AGPAT2 CLIC2 PRKACB PCGF2 CHD8 MED13L IARS2 AP4M1 XRCC4 CHD7 MESD MADD KAT6A TPRKB HNF1B TWIST1 TUBGCP4 DYRK1A PIGO BAZ1B H19 BRAF PUF60 HS6ST2 TRIO ZBTB24 PIGU OCA2 EBF3 HNF4A SVIL HP_POINTED_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POINTED_CHIN ABL1 CLIP2 CDH11 YY1 PIGB CHD1 SHANK3 NFIX TMEM94 NOTCH2 POLR3A MAPK1 TBC1D7 PORCN TUBGCP6 POGZ ANKRD11 KDM3B FLNA MAN1B1 CRKL NSD1 UGDH ACTG1 ZEB2 GTF2IRD1 GTF2I KIFBP CDK10 THOC6 CUL7 ACTB KCNAB2 PRDM16 RFC2 TAF1 SETBP1 PLK4 CLCN4 ZNF148 KIF11 BCR SETD2 TBL2 CHD8 NRXN1 CHAMP1 SNX14 DNM1L OBSL1 MESD MADD KAT6A DOCK3 MAP3K7 CCDC8 MED12L TUBGCP4 ATP6V1E1 CDH2 SKI HRAS BAZ1B LIMK1 ELN CNTNAP2 GABRD CAMTA1 SPOP MYH3 FGF3 DHX37 AP4E1 HUWE1 PDGFRB PIGU MEIS2 INSR RERE POC1A CHRNG HP_MICRORETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRORETROGNATHIA TELO2 VAMP1 ORC6 PUF60 CANT1 GLI3 INTS1 CTNND2 TRIP4 KAT6A SLC25A1 C2CD3 DSE SELENON CEP55 SLC35A3 CEP120 SIN3A TMEM70 PIGN NSDHL NAA10 SNAP25 COL13A1 TAF1 EIF4A3 CHST14 NSMCE2 RSPO2 SLC5A7 MYO9A GAD1 FBXL3 RELN RPL10 KCNK9 MYH7 TASP1 OCLN B3GAT3 CHAT CHST3 SF3B4 PAX1 SEC24D ZC4H2 AGRN RTTN SLC10A7 GMNN KPTN SYT2 EBP CRIPT OFD1 CSGALNACT1 KIF7 SEMA5A SLC18A3 TTN HP_ABNORMALITY_OF_THE_MIDFACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDFACE KDM6A LRP5 PUF60 CDH11 YY1 KMT2C CHD3 WNT5A ATRX IFT122 PRMT7 SF3B4 DMD MAP3K7 SHANK3 LARS1 GDI1 ZFPM2 ERF MGP BICD2 DPYD CCDC22 MTOR ACP5 ELN PSPH CREBBP CEP55 TGFBR1 POGZ FGFR1 FGFR2 MAN1B1 KIF22 FAM20C SLC29A3 SIX1 ARHGEF6 GDF1 NSD2 PAX1 PIK3R1 DSE GNAI3 SLC26A2 SEC23A RPS26 FIBP NECTIN1 BPTF KCNH1 TMEM107 INPPL1 PDE4D BRF1 DHODH GPC3 DEAF1 GATA4 AGL SOS1 CLCF1 GP1BB UPF3B LMX1B RFWD3 POLE TXNL4A ACAN TCF4 KCNE5 CPLX1 IQSEC2 MKS1 FBN1 EYA1 GPC6 ACTB TSEN54 SATB2 OBSL1 SIM1 EDNRA RNF13 HRAS GRIA3 MSL3 CCDC8 GATA1 LINS1 COL18A1 DHX37 COL11A2 POLR1B RDH11 GMNN LBR TCF12 DNMT3B EBP BLM DVL3 EFEMP2 KIF7 SEMA5A MN1 AIP MAF COL2A1 HSPG2 MOCS1 COL11A1 PIGA COMT RLIM DLX4 MECP2 TONSL CLCN4 ALX3 SMCHD1 CTDP1 CRKL TCTN2 RUNX2 EIF2AK3 PIGS PTH1R HECW2 PQBP1 FGFR3 RAB23 CNKSR2 PIK3CA MAP2K1 TWIST1 ZBTB20 TP63 B3GLCT GLI2 EHMT1 AIFM1 TAT GNAS NONO LTBP4 UBE3B AMMECR1 CANT1 AEBP1 SLC25A24 BMP2 NDUFB11 ATP7A EDN1 KCNJ2 DVL1 NOTCH3 FRMPD4 CHN1 FLNB KMT2D B4GALT7 RRAS DLK1 BMP4 PRKAR1A KAT6B B3GALT6 PDGFRB FLNA RIT1 NTRK1 IREB2 ANTXR1 CUL7 HNRNPK DCHS1 WAC SLC35D1 LRRC32 ATP6V0A2 HCCS WDR35 TBL1XR1 KIDINS220 FTSJ1 HCFC1 PYCR1 RERE RTL1 TUBB4A RRAS2 PIGV FZD2 APC UFD1 COG4 ANKRD11 GJA5 ITCH FOXC1 SETD1B ZNF462 NAA10 ESCO2 SEC24D LMNA ANK1 RAI1 SEMA3E TGFBR2 SIX5 B9D1 BCR KIF1A LRP2 WASHC5 ZMIZ1 KDM6B LRP4 SON CNOT3 EXT2 USP9X ADAMTSL4 PEX1 PTRH2 IDUA STRADA SMAD3 PTCH1 NEPRO CHST3 NSMCE2 SMAD4 PURA SHH NKX2-5 CEP290 FAM50A JMJD1C CBL STAG2 INTS1 SPART RSPRY1 PITX2 CRLF1 XYLT2 ZNF81 NDP KRAS TMEM231 STX16 NEK9 GATA6 EXTL3 H19 MYSM1 NSDHL GPC4 HBB PIGQ CC2D2A IGF2 LARP7 ACTG1 NKX2-6 SH3BP2 POU1F1 HERC1 POR CCBE1 PRDM16 TFAP2A KIF11 COL9A3 ALG13 XRCC4 PPP2R5D PCGF2 COX7B MED13L NF1 PTCHD1 ODC1 CHD7 ARVCF IER3IP1 DACT1 MESD WDPCP TCOF1 SERPINH1 HDAC4 RPGRIP1L AFF4 STAC3 NALCN KLLN EP300 GHR KCNQ1 NGLY1 KCNQ1OT1 SIX3 TBX1 SALL1 SH3PXD2B WDR19 POLR1D HNRNPU PIGU KLHL7 PCLO IDS P4HB RBM8A RAC3 TRMT10A LOXL3 RPGRIP1 NRAS ZIC1 ZNHIT3 MLXIPL PYCR2 OCRL SEC24C CYP26C1 PAX3 SETBP1 FBLN5 HBA2 CHD1 RAB3GAP1 SOS2 AUTS2 SNX14 DDR2 ALX1 SPECC1L NXN GATA5 PPP1R15B MITF CTSK WDR26 HDAC8 CCDC47 UBE2A CDKN1C EFTUD2 NFIX YME1L1 NOTCH2 IFT52 MRAS RPS28 MBD5 TBCE NBN SLC6A8 PLCB4 PIGB POLR1C TMEM216 MRPS14 PAK3 LETM1 SMC1A POLR3A SETD1A USB1 WDR73 TSR2 B3GAT3 PSMD12 AMPD2 AGTR2 PEX7 HOXB1 SC5D CTCF MAPK1 KCNAB2 BCL11A HBA1 STXBP1 TFAP2B TAZ FLT4 SETD2 ATP6V1A TMEM260 MAN2B1 ZNF41 KAT6A CDC42 OSGEP ALG12 SLC9A7 CXorf56 GORAB TGFB3 GABRD ALDH18A1 COG1 H1-4 ATP6V1E1 LRPPRC SP7 MEG3 PEX12 CSGALNACT1 NGF TMEM165 HSPA9 CTNND2 FOXG1 ACSL4 CEP120 RASA2 SH2B1 ELMO2 FLII ARID1B ASXL1 KIF15 VPS33A RAB3GAP2 JAG1 MEGF8 RPS6KA3 VPS13B GRIN1 RREB1 MOCS2 PKD2 HIRA POLR1A GSC DLG3 NKAP SNRPN LIFR A2ML1 COL9A1 MAFB GPR101 MYH3 RAF1 PRKACA NSMCE3 PIGN TCF20 COL1A1 TGDS FAT4 SLC2A10 SKI TUBGCP2 RNU4ATAC IFT81 TMCO1 CDK19 MED12 ROR2 PLOD3 IRX5 TBX22 MAP2K2 BCOR SCARF2 SOST PIGT PCNT SYP BRAF CILK1 MID2 CDK5 IARS1 BUB1B PTPN11 TECPR2 BGN SOX11 LAS1L ZNF711 SVBP B9D2 CCDC88A SALL4 BANF1 WASF1 EIF2S3 PLP1 IARS2 TMEM237 CTBP1 SNRPB TSPAN7 RAB39B MIR140 RHOA FGFRL1 TMEM67 LRP1 USP27X ARX CSPP1 FGF3 TBX4 TASP1 POP1 HK1 KMT2E LZTR1 FOXP1 IL1RAPL1 COL9A2 CITED2 POMGNT1 HP_ROUND_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_FACE PHIP PEX6 PIGW ERGIC1 CHSY1 CTNND2 COL2A1 PGAP3 XYLT1 NEXMIF COL6A1 SUZ12 LTBP3 ALMS1 SEPTIN9 PGAP2 FGD1 STX16 TRMT10A KMT2A DNMT3A HDAC4 GNAS SMC1A MED13L NRAS CACNA1C EED KIF15 FIBP MAPK8IP3 EXOC8 DIS3L2 PLCB4 IARS1 TECPR2 USP8 BRPF1 PTEN TMEM67 PEX2 PDE4D COL11A2 PIGY ITGA3 PAM16 B3GLCT ZBTB18 ACTG2 STXBP1 TAZ PEX1 EZH2 AKT1 ARMC5 CENPE EIF2S3 CANT1 COL11A1 LMNA COL6A2 SH3BP2 SPECC1L LMX1B PRKAR1A CDH23 KDM6B PPP1R15B FBN1 COL6A3 TOR1A AFF4 PIGV PIGO PIGL ANKRD11 NSD1 GNAI3 P3H1 HRAS MRPL12 DDRGK1 ADARB1 ADAMTSL2 SLC10A7 ZBTB24 MRPS28 PDE11A HOXD13 ECEL1 CRTAP TRAPPC9 CSGALNACT1 SEMA5A HP_HYPERTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTELORISM KDM1A PDHX CDH11 NALCN ADGRG6 CHD3 PEX5 WNT5A AGA ATRX PRMT7 QRICH1 SUZ12 MAP3K7 SHANK3 RB1 PRKG1 ABCC9 BRCA1 ACOX1 TTC37 ERF TCF3 CCDC22 MTOR TUBB TBX1 THOC2 ELN PHACTR1 CEP55 TGFBR1 FGFR1 ZBTB24 FGFR2 LIG4 MAN1B1 FAM20C PIK3R2 SPART KIFBP NSD2 NEB DHCR7 ASXL1 SMAD3 FANCM ADA2 DSE NSUN2 ACTL6A ITGA8 SEC23A KIAA0586 WDR37 FIBP FUCA1 KIF7 EP300 OFD1 BPTF ALDH18A1 KCNH1 TMEM107 FGF10 PALB2 PDE4D EPG5 TBR1 BRCC3 VSX1 ALG9 FAM111A GPC3 COX7B DEAF1 CHRNA1 ACTB PIK3CA XRCC2 SOS1 GP1BB WDR11 NELFA TXNL4A MUSK RUSC2 PEX6 SALL4 CPLX1 PYCR2 MKS1 MASP1 NF1 BRAF SKIV2L VAC14 LRRC8A RELN HRAS GPAA1 PTPN11 NFASC DHX37 TGFB2 EXT2 LBR SMS SPECC1L ODC1 WDR73 TCF12 RPS15A HPDL LRP4 DNMT3B RAD51 DVL3 SEMA5A CHRNG DPH1 PYCR1 CCND2 PAX3 MN1 RECQL4 MAF HSPG2 MOCS1 RSRC1 SIN3A PGAP2 PIGA TMEM216 LRP5 KMT2E FANCD2 COMT RLIM HMGA2 DLX4 MARS2 RPL11 RPS19 KLF13 ALX3 MED25 PTCH1 TCTN2 RUNX2 EIF2AK3 FLCN PIGL ALX4 TMEM67 FGFR3 PEX2 RIT1 RPS10 TMEM138 MAP2K1 TWIST1 C12orf57 B3GLCT PPP1CB ERCC2 GBA PEPD TACR3 EFNB1 AKT1 NONO IL1RAPL1 SIK3 GTF2H5 ZSWIM6 LTBP4 SLC25A24 RBM10 TRAPPC9 ACTA1 TCIRG1 AKT3 HACE1 HDAC8 BMP2 TAF1 KCNJ2 DVL1 RPS28 NOTCH3 GJA1 TTC7A FANCC FLNB DDX3X ATP6V1E1 PSMD12 IGLL1 B4GALT7 RRAS PPP2R1A TENM3 ZEB2 FLNA SLC39A13 SPOP MYPN CIT ANTXR1 NRAS DCHS1 RPL5 TPM2 ATP6V0A2 WDR35 SLC29A3 MAD2L2 INTS8 AIFM1 ANKH TBL1XR1 KNSTRN CD79A WDFY3 PPP1R12A ASXL2 SMARCD1 FRAS1 TMCO1 POC1A KCNMA1 CACNA1G PGAP3 COLEC10 KRAS DOK7 CDH1 RNF113A PTDSS1 TGFBR2 RRAS2 PIGV FZD2 SIX2 APC MYT1L PIGN UFD1 RMRP MAPK1 SLX4 AMER1 TPM3 TRMT1 FBXO11 ACTL6B RIPK4 LEMD3 POLR2A FOXC1 TBC1D24 ADK SOX6 ALG13 MED13 FAM149B1 RPL35A DNAJC21 POGZ PROKR2 SMCHD1 TPRKB ESCO2 TRRAP COL11A2 RPL15 TRIP12 ANK1 ITGA3 PDE6D ZBTB18 AHDC1 GATAD2B SEMA3E RPS6KA3 MAP2K2 EZH2 PRKAR1A B9D1 PPP3CA PIK3CD DDX6 MRAS KIAA0753 LRP2 WASHC5 FREM1 ZMIZ1 KNL1 GATA1 MEF2C TBCE PSAT1 ZIC1 FOXP1 STAT3 CNOT3 SUFU RET ABCD4 CDH2 PTRH2 MCTP2 CAMK2A PTH1R SNAP29 EHMT1 STRADA SHOC2 CCBE1 CDK13 WDPCP FANCE CHST3 FGF3 FBN1 TWIST2 CPLANE1 NKX2-6 GRIP1 GK CTU2 CEP290 ANKRD11 ZIC3 JMJD1C CDCA7 CBL PTCH2 INSR RPL27 PHIP PPP2CA INTS1 ADAMTS3 RSPRY1 PITX2 XYLT2 IFT43 DDX59 LZTR1 TMEM231 FGF8 ALX1 EXTL3 TBCD SLC2A10 GPC4 NFIX CASK GREB1L OGT CC2D2A SVBP ACTG1 SOST CDK10 HERC1 FOXE3 KBTBD13 SLC26A2 PIGY RPS7 SLC45A1 TGFB3 TFAP2A RAI1 TARS1 NKX3-2 ADAT3 CENPF FANCF GATA6 CENPJ PRKACB MYH3 MED13L COL11A1 ALDH6A1 CHD7 ARVCF GLI3 RNU4ATAC FLI1 AVP RPGRIP1L CSPP1 PIGO SMC1A GLB1 SLC18A3 NSD1 ZMPSTE24 FANCL WARS2 NGLY1 SH3PXD2B TCTN3 EBP TRIO POLR1D HNRNPU GNRH1 GNE TFAP2B COL1A1 KLHL7 STAMBP CSNK2A1 UMPS TRAPPC4 KISS1 DPM1 PIGW RAC3 TRIP4 SPINT2 KIAA1109 TP53RK PRPS1 LMNA TSR2 KMT2A SKI CHST14 RPGRIP1 HNRNPH2 CHRND CTNND1 SLC35C1 PPP2R5D FBXW11 SEC24C ATP6V1A SETBP1 TNFRSF11A HBA2 COL2A1 MYLK SOS2 TELO2 MIR140 DOCK3 BMPER AUTS2 TRIM37 FGF20 IGHM NXN HELLS ATP6V1B2 MFAP5 WDR4 MPLKIP NUP88 ACY1 NTNG1 TCF20 CCDC47 UBE2A AFF4 INTU SOX9 PEX3 PROK2 ZIC2 LMBR1 SPRY4 MAT2A KLHL41 PIGB POLR1C PMM2 MRPS14 LETM1 FAT4 SPRED1 DNMT3A TMEM94 ASXL3 POLR3A SETD1A ALG8 EED USB1 SMG9 BNC2 BLNK GLE1 KISS1R CHRNA7 ERMARD B3GAT3 CREBBP KCNN3 CTCF COLEC11 TAC3 HBA1 KATNIP FGF17 ERCC4 GNRHR HSD17B4 COL1A2 KREMEN1 FGD1 CDC42 POLR1A PAFAH1B1 RPS24 OSGEP DICER1 FBLN5 RPL18 NOTCH2 SLC12A6 LOX PIGG BCORL1 CAMTA1 FREM2 ZMYND11 COG1 SEC24D ANOS1 UBE2T RAPSN RAF1 PARS2 RYR1 LRPPRC PTEN YWHAE INPPL1 KAT6B CNTN1 EXOSC9 PACS1 CTNND2 SMO TONSL CEP120 DUSP6 RASA2 SH2B1 DOCK6 FLII MAPRE2 KIF15 ACTA2 MID1 MAPK8IP3 SMAD4 FANCB PIEZO2 NUP133 THRA NSMF GTF2E2 MEGF8 BMPR1A PLCB3 ARID1B RREB1 MOCS2 POR TANC2 CD79B RPL35 MYH11 RPL31 HIRA VPS51 PEX1 DDR2 MAN2B1 PHGDH BCL11B SNRPN A2ML1 FANCI NARS1 NSMCE3 MED12 PACS2 RPL26 MED12L RAD51C MMP2 TGDS GAD1 COL27A1 CHSY1 SET MYOD1 CDK19 IQSEC2 TBX2 ROR2 ALG1 COL3A1 IRX5 CHD4 ITCH TAPT1 TBX15 ERCC3 NBAS SRD5A3 EMC1 RPS17 VPS35L CCNK PIK3R1 BRIP1 EFEMP2 JAG1 BUB1B BGN BRPF1 FIG4 SLC1A4 WAC B9D2 RERE FAR1 CHD8 HS6ST1 PLP1 GALNT2 FH TMEM237 NKX2-5 CTBP1 AP4S1 SHROOM4 BRCA2 FGFRL1 RPS26 LAGE3 RPS29 TBX4 TCOF1 TASP1 DPF2 IL11RA RFWD3 FANCG FANCA RPS27 EBF3 NUP107 UBE3B HP_FACIAL_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_MYOKYMIA ATP13A2 ABCD1 PRKCG SPTBN2 PPP2R2B ADCY5 HP_SMOOTH_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMOOTH_PHILTRUM UNC80 PUF60 PACS1 ACER3 SMPD4 IGF1R PIGB CSNK2B MAF QRICH1 ADSL SUMF1 SIN3A ATP6V0A2 KMT2E TMEM94 FLNA IFIH1 MYT1L SMC3 RHOBTB2 SMC1A MTOR MMACHC AP3D1 CXorf56 KIF15 MID1 TRMT1 ACTL6B PUS7 CD96 COL3A1 NUP107 RAI1 DIS3L2 NALCN ANKRD11 DDX6 FBXW11 PIGQ MAN1B1 PLAA PYCR2 CRKL SVBP RPL10 UGDH PKDCC NOTCH3 FLCN MED13 HOXB1 AP3B1 CDK10 THOC6 SEC23A CCBE1 NSUN2 ACTL6A TANC2 MAPK1 TRRAP SLC45A1 WDR37 RAD21 SETD5 ZBTB18 ZNF148 RERE TBX1 CLIC2 KDM5C BCR FAR1 UBE3B SRCAP ATP6V1A FBN1 CANT1 DOCK3 TRAPPC9 RLIM PIK3CA CDC42 DYRK1A ALG9 TRPS1 BPTF SLC25A24 ZMIZ1 PTPRF ADNP PIGN SON FLI1 MYOD1 FOXG1 COG1 USP9X CDH2 PSMD12 SYT1 KCNK4 MED12 TUBGCP2 PPP2R3C SATB2 TGFB3 BCORL1 GAD1 TASP1 MSL3 CTNNB1 NTNG1 TCF20 SMARCA2 ORC4 COG7 WDR19 ADAMTSL2 RTTN HNRNPU ATP6V1E1 WDR35 SMS GNE SPECC1L TBL1XR1 PIGU IRX5 CERT1 PAX3 ZC4H2 WDFY3 STAG2 MEIS2 EBF3 PRDX1 TRAPPC4 KIF7 MAB21L1 DPM1 SPOP HP_BIRD_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRD_LIKE_FACIES GTF2H5 XRCC4 NHEJ1 MPLKIP LMNA GTF2E2 ERCC3 RNF113A LIG4 WNT10A ERCC2 ZMPSTE24 TARS1 RAD50 HP_SQUARE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARE_FACE CHD7 SEMA3E EP300 ADAMTSL1 KDM5B PUF60 SETD1B CREBBP WAC LIFR IFT57 HP_SHORT_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHILTRUM PIGW NFIX UNC80 CDH11 SOX4 TCF4 PGAP3 SMPD4 MED12 AP4M1 NEXMIF TBX1 AP1S2 WNT5A ARID2 DOCK7 SH3PXD2B PIGV KCNJ6 APC SIX3 TRMT10A UFD1 FLII HNRNPH2 PIGL ARID1B FREM1 MAPK8IP3 CREBBP CKAP2L POGZ SRCAP NALCN RAI1 ALX4 CPLX1 MAN1B1 RAB3GAP2 NOG SEC24C KCNK9 DISP1 NSD2 SETBP1 VPS13B AP4B1 AP4E1 TAB2 RREB1 NSUN2 TRRAP CCDC22 NODAL SLC35A1 HIRA VPS51 GATAD2B ADAMTSL1 RAB3GAP1 DLK1 BPTF NKAP MEF2C BCL11B TGIF1 TBR1 AUTS2 CHAMP1 DENND5A DEAF1 GLI2 KDF1 GP1BB SMAD4 GAS1 PRKACA SMARCE1 FGF8 NELFA ERLIN2 LRP4 SON TXNL4A CNOT3 PPP1R15B MAP3K7 SMARCA4 MED12L UPF3B CDH2 DVL3 KCNK4 MCTP2 VAC14 SHMT2 RAB18 CCBE1 CDK13 GRIA3 RUNX2 IQSEC2 DVL1 DHX37 ERCC1 PTCH1 SMS PITX2 TMEM70 FZD2 JMJD1C STAG2 KIF7 LARP7 PHIP TBC1D20 ITCH KIFBP PPP2CA ZIC2 SHH ADAMTS3 FGFR1 DPF2 PGAP2 CUL4B LETM1 EMC1 NXN MED25 COMT SMC1A MADD PDE4D PUS7 COL3A1 SOX11 BRPF1 HDAC6 RTL1 FIG4 PSMD12 ZEB2 DLL1 SMARCD1 PQBP1 AP4S1 CTCF MEG3 PIGY POLR3A IFT57 TFAP2B MTX2 EXT2 NONO SUFU TCTN3 TWIST1 SATB2 UBE3B PRKACB TRAPPC9 GALNT2 TMEM237 HUWE1 CDC42 CTBP1 ARVCF ALG12 KAT6A ROR2 FGFRL1 FAT4 WDR4 CDON TDGF1 ARID1A TALDO1 OPHN1 PIGO ZDHHC9 IREB2 FOXH1 SMARCC2 TWIST2 PHF21A LRRC32 PARS2 MEIS2 SMARCB1 WNT4 HP_FACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ASYMMETRY MYH8 ERGIC1 PUF60 PLCB4 YY1 IGF2 MAF SMO MEOX1 GDF3 FGFR3 FGFR2 TWIST1 NBAS SIN3A ELMO2 NFIX BRCA1 ZIC1 KMT2A USP9X FANCD2 LETM1 CHST14 H19 GDF5 GDF6 SMC3 SMC1A EYA1 PIEZO2 SLX4 CTNND1 TCF12 BRIP1 OFD1 PORCN CDH11 FANCB ERF CPLX1 GNAS CRKL KRAS NSD2 FANCM COL1A1 GNAI3 SON PTEN MAPK1 PSMD12 PIK3CA PKD2 SOX5 PALB2 NRAS SEMA3E ERCC4 CLTCL1 SALL4 ANOS1 EFNB1 ADAT3 AKT1 SIX5 FANCF BCR ATR SATB2 PPP2R5D FANCI MAFB SIX1 KCNQ1OT1 PPP2R1A CTBP1 XRCC2 PAX1 CHD7 BRCA2 DACT1 PIGN KAT6A RHOA FGFRL1 MACF1 KCNJ2 FLI1 NOG FANCC CHN1 RAD51C LRP4 NF1 NTRK2 HRAS C12orf57 SMS TRIO BMP4 EDNRA SLC12A6 FLNA SET SALL1 FANCL FANCE MYH3 SEPTIN9 MYCN UBE2T RFWD3 EDN1 PURA FGF9 FANCG DHX37 ELOVL4 FANCA POLR1B MAD2L2 SP7 RAD51 CHRNG HP_TRIANGULAR_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_FACE LARP7 MED12 UNC80 BUB1B PLAG1 IFITM5 IGF1R ADGRG6 IGF2 MAP2K1 TNNI2 PQBP1 RRAS2 NRAS KCNJ1 RASA2 EIF2AK3 FANCI MAFB SPRED1 TMEM94 ALDH18A1 MYH3 H19 SMC1A NOTCH2 HMGA2 MED13L POLR3A BSCL2 PIK3R1 RAI1 TRPS1 BUB1 SRCAP JAG1 NALCN LEMD3 ANKRD11 SMARCA2 PLOD2 PIEZO2 PYCR2 ARX PTPN11 BUB3 SOX6 SYNGAP1 FLCN MVK ATP6V1A PSMD12 PEX13 CDK10 HERC1 BMP1 CUL7 COL1A1 SLC45A1 TRMT5 KRAS DCAF17 CEP57 ZNF148 RERE GBA MTX2 BRAF NECTIN1 BPTF NONO AP1S2 PEX19 SOS2 ORC6 PPP2R5D TRIM37 A2ML1 FKBP10 XRCC4 TNNT3 HUWE1 SOS1 RAF1 COL1A2 SLC25A24 OBSL1 KAT6A KCNJ2 PEX14 SERPINH1 MYOD1 CCDC8 MED12L CDC6 ATP6V1E1 MCTP2 AGPAT2 TALDO1 RRAS SPOP RIT1 SPRTN PTF1A TRIP13 HS6ST2 MYCN SEC24D TBX2 LZTR1 CBL PAX7 CDKN1C MRAS STAG2 EBF3 PYCR1 POC1A SEC31A HP_ABNORMALITY_OF_THE_MAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MAXILLA ABL1 KIFBP PAX3 RPS6KA3 CDH11 PQBP1 WNT10A CHSY1 MED12 GORAB SCARF2 POLR1C PITX2 SUMO1 TERC FGFR3 GPC4 FGFR2 TWIST1 FGD1 AP2M1 IFIH1 SF3B4 SKI RTEL1 NRAS EDA PDE4D DLG1 ALX3 EFEMP2 NECTIN1 RIPK4 PIK3CA HBB TERT USB1 AKT1 PAX9 COL2A1 FOXC1 BMP4 BGN IRF6 UPF3B GJA1 VPS13B FGFR1 TWIST2 SEC23A MEG3 CDT1 RAB23 COLEC11 ERF PARN RTL1 UBE3A ZBTB20 TP63 ORC6 GLI2 POLR1A COL11A1 MSX1 PRKAR1A ORC4 EDARADD KDM5C B3GLCT SLC25A24 TINF2 FBN1 NPM1 RAB3GAP2 ALX1 EP300 TGFA SMAD4 PTEN SOX5 PRKACA BMP2 LRP6 MAFB CDC6 UBB SON KCNJ2 WNT10B DLX4 CREBBP PYCR2 WDR26 MMP2 FAT4 TUBGCP2 ORC1 FGF3 LTBP3 ZDHHC9 TCOF1 AXIN2 CDC45 EDNRA PDGFRB SLC12A6 CDH1 GRHL3 HRAS RUNX2 PTCH1 NOP10 IL11RA ADAMTS10 DCHS1 POLR1D CTC1 EFTUD2 NFIX LBR WRAP53 SMOC1 COL5A1 NHP2 STAMBP ARHGAP29 DLK1 FLNB DKC1 TMCO1 ZBTB11 GMNN HP_FACIAL_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HEMANGIOMA ESCO2 GLI3 SLC26A2 GNA14 CCDC22 DHCR7 STAC3 MGAT2 RECQL4 WASHC5 SETBP1 ASXL1 CD96 GNAQ OFD1 HP_SHORT_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CHIN ABL1 ITCH COX7B RNF13 DDR2 ERCC4 ERCC6 MAN1B1 XRCC4 ERCC8 PRKDC SHANK3 MEF2C MTOR MYOD1 ARID1B MBD5 ERCC1 COA6 VAC14 FLNA H19 EDA ALG13 SOX11 PTF1A FIG4 BMPR1A PIGS CYP26C1 RECQL4 CDK10 IGF2 TRIO NSUN2 ZBTB24 PARS2 ZMPSTE24 PTEN NFIA EBF3 MED12 DST AP1S2 LMNA HP_PROMINENT_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPRAORBITAL_RIDGES FGFR1 GRIA3 FLNA RBMX FBXO31 PPARG CHD8 PHF8 SUZ12 ABCC9 SHANK3 PHF6 TAF1 FHL1 MAP3K7 IDS UBE2A PIK3R1 HDAC8 OPHN1 PTH1R FOS EDA CAV1 LAS1L CAVIN1 ZSWIM6 MAP2K2 SEC23A FREM1 KCNJ8 PITX2 BSCL2 PDGFRB SP7 ARX AGPAT2 RPS6KA3 ERCC4 HP_BROAD_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOREHEAD ZIC2 ABL1 JAG1 CLIP2 TET3 PPP2CA UNC80 HES7 ADAMTS3 FGFR2 YY1 AIP PTDSS1 GPC4 RBM8A SH3PXD2B SH2B1 CHST3 ZFPM2 TTC37 FGD1 SLC6A8 TENT5A LRP5 TBX1 GATA6 MKS1 ALDH18A1 IFIH1 RLIM PIGN CHST14 NOTCH2 FLII NRAS ZIC1 FUT8 FLNA THOC2 CASK EED MESP2 TBC1D7 SUZ12 LRP2 NF1 PSPH RECQL4 MBD5 CKAP2L RAI1 GJA5 PAK1 CDH11 RTL1 FLCN MEG3 BRPF1 GDF1 FGFR3 B3GAT3 NKX2-6 KRAS NKX2-5 GTF2IRD1 ACTL6B DLK1 GTF2I SETBP1 TAB2 BMP1 RPL10 WAC HBA2 THOC6 CUL7 CCBE1 COLEC11 CCDC22 RFC2 TBCK POLR3A RIPPLY2 HBA1 SLC25A24 ZBTB20 ACTG2 DNMT3A NFIA GATAD2B TAZ FLT4 MEF2C GATA4 DLL3 MAN2B1 CDKL5 FGF10 RUNX2 TBL2 PRKACB AMMECR1 PCGF2 MED13L DEAF1 NARS1 PIK3CA GPR101 ODC1 OBSL1 MADD CCNQ POLE FAT4 KCNJ2 GATA5 TCTN2 CDH2 SKIV2L B4GALT7 BMP2 EZH2 PPM1D BAZ1B LIMK1 WASHC5 SIM1 ELN NSD1 CAMTA1 HRAS TWIST1 CCDC8 KANSL1 ANTXR1 IQSEC2 TFAP2B LFNG TCF12 PEX3 PIGU PTEN EBF3 PYCR1 CITED2 KIF7 RNF135 HP_HYPOMIMIC_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMIMIC_FACE SLC18A2 POLG PLAA TECPR2 ATP6AP2 GIGYF2 EIF4G1 SLC39A14 DNAJC6 SLC6A3 PODXL SPR FTL SNCA PLA2G6 ATP13A2 ATP1A3 TXNL4A VPS35 SYNJ1 FBXO7 KCNK9 DNAJC13 LRRK2 RRM2B CC2D1A SLC30A10 GBA JAM2 POLG2 SLC25A4 TWNK HP_SLOPING_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOPING_FOREHEAD VPS33B ZIC2 NFIX STIL WDR62 NBN BUB1B CEP152 ACER3 CEP63 SMPD4 PCNT TMEM216 NCAPD3 MKS1 ABCC9 BRCA1 TMEM231 QARS1 FANCD2 PYCR2 VIPAS39 PHC1 KCNA1 RNU4ATAC GPKOW RPGRIP1 PIGP MGP SLX4 MFSD2A TSEN15 TUBGCP6 ASPM ANKLE2 WDR73 TRIM8 BRIP1 PIGQ CEP55 CDK6 COPB2 NUP107 BUB1 LIG4 KATNB1 SIK1 FANCB CC2D2A KIF14 NCAPH NDE1 BUB3 TCTN2 SUFU SEPSECS OCLN METTL5 DYM KIFBP NCAPD2 FANCM CDK5RAP2 SC5D CTSD DDX11 SCN2A B9D2 NHEJ1 PALB2 GLI3 TBCK DMXL2 CCDC88A PLK4 KIF7 CEP57 ERCC4 KIF11 PRUNE1 ADAT3 PNKP FANCF CENPJ B9D1 CIT PHGDH GNAO1 TMEM107 RUNX2 ATR CENPE LTBP4 RBM10 NSUN2 KNL1 EIF2S3 MAP11 FANCI SASS6 PSAT1 XRCC4 XRCC2 PHF8 ERCC6 SLC25A22 ATRX OSGEP BRCA2 TSEN2 WDPCP DYNC1I2 ZNF335 TMEM67 CNOT1 FANCC RAD51C ASNS COG4 TUBGCP4 CASK CPT2 TSEN34 RPGRIP1L CSPP1 TSEN54 TUBGCP2 RELN TTI2 SETBP1 C2CD3 KAT6B ARX TAF13 MCPH1 FANCL SCN1B TRIP13 SLC25A19 FANCE STXBP1 NEUROD2 UBE2T RFWD3 FANCG RTTN COASY FANCA PARS2 MAD2L2 VARS1 CEP290 UGP2 EMG1 STAG2 RAD51 STAMBP PAH CDKL5 CEP135 HP_NARROW_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FOREHEAD ZIC2 PUF60 TCF4 SMPD4 MN1 PIGB AP4M1 NEXMIF ATRX GNPTAB PIGT DOCK7 NBAS BRAF QARS1 TRMT10A USP9X MEIS2 NUP133 GPT2 SMC1A MED13L FUT8 VPS53 MKRN3 SNORD115-1 MAPK1 AMER1 MADD MLXIPL PSPH SMG9 ZNHIT3 NUP107 ASPM PPP2R5D DDX6 CDH11 PYCR2 NAA10 TBC1D24 RTL1 KCNK9 SOX6 NUP188 MEG3 AMPD2 DLK1 GTPBP2 DHCR7 SETBP1 ASXL1 ADAM22 MAP2K2 SC5D AP4B1 AP4E1 AP4S1 CTCF MAGEL2 SLC16A2 CCDC88A SLC25A46 IFT140 CAMK2G LIG4 DYRK1A CDKL5 PIGN SLC12A2 SNRPN PIGY RNF13 KAT6A PUM1 CDC42 ATN1 LGI4 OSGEP IER3IP1 PWRN1 SON RBBP8 PPP1R15B SERPINH1 RARS2 HERC2 MYOD1 FRMD4A ELN CARS1 NF1 AFF4 NDN GPAA1 FAT4 KCNK4 TUBGCP2 PWAR1 BMP2 PPP2R3C SIM1 SLC12A6 RELN CCDC47 TRAPPC4 DCHS1 PURA COG7 TBCK WDR35 LAGE3 RYR1 CTU2 UGP2 PIGU NPAP1 MYO18B SMARCD1 TRAPPC9 SNORD116-1 TMCO1 SPOP HP_LONG_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PHILTRUM WDR35 CLIP2 PUF60 HES7 RAC3 NALCN ATP7A XYLT1 WNT5A TBX1 PRMT7 DMD MAP3K7 SHANK3 GDI1 SLC6A17 BCOR TRMT10A KMT2A CHST14 MTOR NRAS GPC6 MLXIPL ARX CREBBP TRPS1 B3GALT6 CDH11 FBXW11 PYCR2 OCRL HDAC8 SEC24C ARHGEF6 TBC1D24 RIC1 GTF2I DHCR7 PTEN DSE ACTL6A KCNJ8 SEC23A RAD21 TAF1 FGFR2 NEB COL11A1 KCNH1 B3GLCT BRF1 MIR140 TBL2 OTUD6B BRCC3 DOCK3 ALG9 COX7B SNX14 ARHGEF2 CLCF1 GP1BB SPECC1L UPF3B SMC1A ADNP NXN SETD5 POR ABCC8 DYNC2H1 MUSK PPP1R15B FBN1 MYOD1 CPLX1 DYNC2I2 IQSEC2 NF1 ACTB PLAA TRIO OBSL1 CASK SHMT2 LIMK1 CNTNAP2 HRAS CCDC8 NTNG1 TCF20 SMARCA2 ALG11 CBL NFIB ADAMTSL2 EXT2 NOTCH2 FZD2 HPDL CAMTA1 DVL3 SMC3 KIF7 MAB21L1 CHRNG IGF1R KLHL41 PIGB EIF2S3 MAF COL2A1 HSPG2 MOCS1 GNPTAB ADSL PUS1 SIN3A PMM2 TTC37 PAK3 KMT2E COMT ALG8 EED MESP2 MADD MARS2 PDE4D MECP2 CD96 GLIS3 PKDCC ACTG1 B3GAT3 AGTR2 SC5D RPL10 CTCF CNKSR2 KCNAB2 MAP2K1 MPC1 RIPPLY2 C12orf57 CAMK2G DLL3 HSD17B4 LTBP4 ATP6V1A CANT1 EXOSC2 ZNF41 TRIP11 CDC42 SLC25A24 BMP2 SLC9A7 DVL1 NOTCH3 FRMPD4 KCNJ11 ATP6V1E1 PSMD12 METTL5 MED12 CTNNB1 CXorf56 TENM3 ELN GABRD IFT80 EXOC7 ANTXR1 CUL7 PDHA1 ATP6V0A2 LTBP3 PIGT UGP2 FTSJ1 HCFC1 WDFY3 MEIS2 PTCH1 CLTC INPPL1 PPP1R12A KAT6B KIF11 CSGALNACT1 FGFR1 RERE RNF135 TET3 KIT APC TNNI2 TMEM70 FGD1 EXTL3 USP9X MYT1L PIGN SLC26A2 UFD1 MAPK1 SUZ12 TRMT1 FBXO11 MAPK8IP3 ACTL6B SNAI2 RAI1 ANKRD11 PIEZO2 ALG13 MED13 TPM3 OCLN GTF2IRD1 RPS6KA3 NEK9 BMP1 ARID1B RREB1 MOCS2 TBCE TANC2 RFC2 TBCK TRIP12 HIRA DLG3 TUBB EZH2 NRXN1 DDX6 ATN1 MYH3 ERCC6 PRKDC ZMIZ1 CNOT1 COG1 CDH2 RNU4ATAC SKI BRAT1 BCL11B GAD1 EXOC6B PTH1R IFT81 CHST3 TRAPPC4 ACSL4 RIN2 PEX26 SATB2 ROR2 PLOD3 SMOC1 FAR1 NLRP1 MRPS28 IRX5 JMJD1C STAG2 CRTAP CRLF1 DLK1 ACTA1 MAP2K2 PHIP INTS1 NIPBL XYLT2 ABCC9 ZNF81 NBAS UBA1 KRAS SLC2A10 CCNK SYP BRAF MID2 PIGQ COL11A2 MYMK BUB1B SVBP BRPF1 ZNF711 AP3B1 GJA1 CDK10 ZC4H2 MEG3 PRDM16 RTL1 MTX2 CLCN4 DYNC2I1 EXT1 PPP2R5D TAF6 RLIM IARS2 ALDH6A1 HUWE1 PTCHD1 BPTF SNRPB ARVCF TSPAN7 RAB39B FLI1 AVP CDC6 TOR1A USP27X AFF4 FGF3 PPP2R3C BCORL1 BAZ1B METTL23 NSD1 TASP1 IL1RAPL1 GNE LFNG MAPRE2 PCLO YARS2 PAH MYO18B HP_HIGH_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FOREHEAD CLIP2 PEX11B TET3 ARV1 UNC80 APC TRAK1 CDH11 BUB1B CENPJ CDH1 ATP7A MED12 NTRK2 STRADA PEX5 ALG11 FGFR3 GABRG2 RRAS2 SH3PXD2B PEX12 NRAS ZIC1 RASA2 SIX2 SLC1A2 IGBP1 KMT2A SKI MYT1L MTOR MMACHC THOC2 MAPK1 CTNND1 TRMT1 FBXO11 ARX PEX6 ACTL6B GABRB2 FGFR1 BUB1 FGFR2 DIS3L2 ANKRD11 POLR2A NECAP1 FBXW11 CPLX1 PEX2 PIK3R2 FRMPD4 SOX6 MED13 GTF2IRD1 ETFB SZT2 NEU1 GTF2I SCN8A NSD2 HBA2 THOC6 ACTL6A STXBP1 TBCE TANC2 ERF RFC2 WDR37 SMAD3 PEX13 PEX1 NPHP3 GLI3 TBX1 MEF2C AP1S2 SOS2 CDKL5 TBL2 CLTC TP63 PIK3CD GABRA2 DOCK3 DDX6 COX7B A2ML1 PEX26 ACTB ATN1 SOS1 RAF1 NXN SETD5 NELFA PEX10 TCF20 HCN1 CDK19 GHR MYOD1 MED12L SYNGAP1 UPF3B CTSK CARS1 ATP6V1A CTCF PEX19 TRIO SETBP1 VAC14 SATB2 DVL1 LIMK1 WASHC5 SHPK ADAT3 PEX3 NTNG1 SCN3A KANSL1 FBN1 UBE2A KCNA2 PURA NFIB STIM1 CACNA1A MAF EXT2 GMNN LBR ATAD3A ODC1 IFT52 MRAS CBL CRIPT YWHAG ZMIZ1 DVL3 PRDX1 MAP2K2 PEX14 CCND2 ZIC2 ETFA PHIP GNPTAB YWHAE PIGT BPNT2 FGF12 TWIST1 RBM8A SIN3A NFIX KRAS EIF2AK3 LETM1 LRP5 KMT2E KCNB1 SETD1A MADD CUL4B BRAF MED25 AARS1 ETFDH DALRD3 ARID2 SVBP PTPN11 BUB3 GRIN2D FIG4 PPP3CA ZC4H2 AP1S1 AP3B2 PIK3CA MAP2K1 HBA1 PEX16 PAFAH1B1 ORAI1 CEP57 MTX2 CAMK2G SYNJ1 HSD17B4 SETD2 NUS1 SLC13A5 EXOSC2 GNPAT RLIM GALNT2 TMEM237 ALDH6A1 AKT3 XRCC4 HUWE1 CTBP1 BPTF SOX9 FGFRL1 FLI1 SERPINH1 CYFIP2 WWOX GJA1 WDR4 UBA5 ATP6V1B2 PSMD12 TRPV4 CACNA1B MDH1 CPT2 SYT1 RRAS CNKSR2 BMP4 ZDHHC9 BCORL1 BAZ1B RNF113A SMC1A ELN GATA4 RIT1 GABRA5 EEF1A2 TRIP13 ANTXR1 LZTR1 PARS2 HNRNPU WDR35 TBL1XR1 PIGU KNSTRN DNM1 WDFY3 EBF3 TRAPPC4 DHDDS HIC1 HP_WIDOW_S_PEAK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDOW_S_PEAK TWIST1 EFNB1 SLC35C1 SPECC1L ATP6V1B2 FGD1 MID1 ALX1 RERE SYT1 LRP2 ALX3 HP_SMALL_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOREHEAD KDM5C RELN DMXL2 TFAP2A SNX14 IFT57 PIGN HP_ABNORMALITY_OF_THE_OUTER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OUTER_EAR CLIP2 NFIX UNC80 CDH11 HES7 GNB1 YY1 FOXL2 SF3B4 QRICH1 SHANK3 SLC9A6 BRCA1 PEX12 ACOX1 GPC6 TUBB B9D1 FMR1 PEX6 PHACTR1 PREPL KANSL1 CEP55 POGZ TRPS1 FGFR2 ARL3 RAC1 ARID1A UBA1 NSD2 DHCR7 PAX1 PIK3R1 ASXL1 CTSD GNAI3 HYMAI KATNIP TNNI2 ACTL6A RNU4ATAC WDR37 NEB FIBP NFIA B3GALNT2 KCNH1 AP1S2 TMEM107 FGF10 BRF1 DHODH BRCC3 VSX1 GPC3 PEX5 COX7B PEX26 PIK3CA XRCC2 SOS1 GP1BB ADNP LMX1B NELFA COL6A3 PYCR2 EYA1 BRAF TTI2 SATB2 ERCC8 NBN TRAF7 RELN GRIA3 CCDC8 PTPN11 COG7 GMNN ADAM17 ODC1 TMEM70 ERF RAD51 DVL3 SMC3 KIF7 SEMA5A DPH1 TBC1D20 VAMP1 IGF1R AIP POMK MAF HSPG2 ADSL RBM8A SIN3A TTC37 TMEM216 KMT2E FANCD2 RHOBTB2 DLX4 WNT7A MARS2 FDFT1 SOD1 TUBGCP6 ALX3 MRPS16 CRKL DIS3L2 BUB3 SYNGAP1 HDAC6 PIGS COL13A1 RPL10 TWIST2 RAB23 PEX2 RIT1 HOXA2 ACBD5 MBTPS2 TRAIP ZBTB20 C12orf57 B3GLCT PPP1CB GLI2 PIGK ERCC5 EHMT1 IL1RAPL1 GTF2H5 RBM10 NSUN2 MBTPS1 PIEZO2 IFT172 CEP120 RDH11 TAF1 KCNJ2 POMGNT1 GJA1 CHN1 ASNS KMT2D ATP6V1E1 PSMD12 TRPV4 B4GALT7 OPHN1 TP63 TENM3 ZEB2 NECTIN1 NPHP1 DAG1 IREB2 FGF3 CIT ANTXR1 HNRNPK NRAS DCHS1 RPL5 IGF2 HCCS MAD2L2 CD79A WDFY3 PTCH1 PPP1R12A ASXL2 FBXW11 FRAS1 RERE TMCO1 SDR9C7 VPS33B TET3 FLNA CACNA1G COLEC10 PQBP1 DOK7 PGAP3 HOXA13 MKS1 RRAS2 DOCK7 PIGV PRRX1 CD96 PIGN UFD1 B9D2 PHOX2B XYLT1 SUZ12 TRMT1 FBXO11 ANKRD11 PLAGL1 KDM3B TBC1D24 ZNF462 MED13 GTF2IRD1 RPL35A BMP1 TPRKB ESCO2 PALB2 ANK1 ITGA3 PDE6D ZBTB18 AHDC1 FBN2 CRPPA NALCN SEMA3E DST MAP2K2 EZH2 NIN DYRK1A BCR ADAR KIF1A SOX4 ATR PMM2 PIK3CD DENND5A MRAS COL6A2 LRP2 EDN1 PRKDC ZMIZ1 PTPRF GATA1 ERLIN2 KDM6B LRP4 FOXP1 CNOT1 INSR CDH2 SSR4 POLE FTSJ1 CEP41 SHOC2 CDK13 TRIO DHX30 CHST3 PURA RARB KDSR KDM5C FGFR3 KCNK9 GRIP1 ZIC3 JMJD1C CBL TLK2 CPLANE1 RPL27 ETFA PEX14 ADAMTS3 CNOT2 SLC25A1 CRLF1 EGFR XYLT2 NDP KRAS QARS1 GPT2 NSDHL GREB1L DZIP1L ERCC2 NR2F1 RPL26 PLAA PEX10 LARP7 ZC4H2 NIPBL HERC1 SON CANT1 POR CCBE1 PEX3 PIGY RPS7 LONP1 TFAP2A ORC6 KIF11 MVK BLM PCGF2 HMGA2 TBCD PEX16 MED13L RLIM ARX COL11A1 RNASEH2A EFL1 CHD7 DACT1 MESD WDPCP CDKN1C TCOF1 FLI1 TOR1A CPT2 RPGRIP1L AFF4 STAC3 TALDO1 PIGO CDC45 SMC1A EP300 H19 SLC18A3 NSD1 FANCL PHF6 SALL1 HS6ST2 STRA6 EBP OTX2 ORC1 GNE TFAP2B PIGU TNNT3 KLHL7 PCLO STAMBP CSNK2A1 PSAT1 UMPS TBL1XR1 MEOX1 PIGW SMPD4 SPINT2 SCYL2 KIAA1109 TP53RK TMEM231 KCNJ1 TSR2 IGBP1 TRMT10A KMT2A TPM2 CHST14 RPGRIP1 MLXIPL LARGE1 MBD5 B3GALT6 ZNF711 CPLX1 OCRL ATP6V1A CLCF1 SETBP1 PTEN RSPO2 ASCL1 LSS SLC6A17 SRCAP TMEM67 AUTS2 CC2D2A FGF20 DDR2 ALX1 TSHZ1 WNT4 ALKBH8 CDC6 PPP1R15B TBX1 GPX4 FRMD4A MITF ATP6V1B2 UPF3B COL3A1 DYNC2LI1 HDAC8 DHCR24 CASK C2CD3 SLC26A2 WASHC5 WDR4 PEX1 CCDC47 UBE2A AGRN ADAMTSL2 IQSEC2 ERCC1 RNASEH2C SOX9 IFT52 RPS28 CAMTA1 CEP104 MAB21L1 IFIH1 ZIC2 MSX2 CHRNG PCNT POLR1C EIF2S3 MRPS14 FAT4 SPRED1 TMEM94 VIPAS39 LETM1 POLR3A SETD1A ALG8 BHLHA9 MEG3 COL4A1 GPC4 BLNK SLC39A8 GLE1 MPLKIP TRIM32 ACTG1 HOXB1 PIEZO1 DDX11 ATP6AP2 CTCF BCL11A RIPPLY2 ERCC4 AHI1 SRY HSD17B4 SLC2A1 TMEM260 KAT6A FGD1 CDC42 PAFAH1B1 USP7 OSGEP ALG12 KLHL40 BRWD3 KMT2C KCNJ11 RALGAPA1 TBC1D23 GJB4 PBX1 UBE2T SOST MCM5 CCNQ ERCC6 MID2 UGP2 EXOSC9 FGFR1 PACS1 RAB18 TMEM165 HSPA9 GLI3 CTNND2 AEBP1 CPOX ATP6V0A2 KDM6A RASA2 ATRIP ARID1B SBDS LRRC8A TGM1 INPP5E RAF1 RXYLT1 FANCB NUP133 MECP2 RAB3GAP2 NOTCH3 MEGF8 BMPR1A BBS10 DONSON TAB2 RREB1 PKHD1 DNMT3B TANC2 MAGEL2 CD79B RPL35 SETD5 RPL31 HIRA POMT1 ZNF148 PHGDH BCL11B SIX5 LIFR FANCI DSE ATN1 CAMKMT MED12 GBA SNAP29 FOXG1 ARL13B COG1 USP9X TGDS LMOD3 SLC2A10 TUBGCP2 SLC5A7 NUP88 BMP2 SRP54 ABHD5 GAD1 PTH1R SET MYOD1 PTF1A BBS7 TBX2 EVC2 OFD1 PLOD3 MYH3 MASP1 FAR1 MRTFA DLK1 CHD4 TAPT1 TBX15 ERCC3 SCARF2 PXDN PIGT SRD5A3 ATPAF2 NXN PEX19 NF1 BRIP1 CILK1 EFEMP2 JAG1 EMC1 EFTUD2 LIPN SOX11 LMBRD1 MKKS WAC FBXL4 BBS4 ZMPSTE24 SLC25A24 PAM16 KIAA0586 SALL4 CEP57 TCTN3 BBS12 RAB3GAP1 TMEM237 HUWE1 CTBP1 ATRX BRCA2 RAI1 RPS26 LAGE3 TWIST1 TUBGCP4 ELN CSPP1 BCORL1 LZTR1 RFWD3 RTTN KCTD1 PORCN RPS27 MAPRE2 B4GAT1 NUP107 UBE3B PUF60 PAK3 WFS1 ACER3 ARMC9 ADGRG6 CHD3 WNT5A AGA DHPS COL6A1 RMRP MAP3K7 RB1 MGP TCF3 BICD2 CEP152 DPYD CCDC22 MMACHC ACP5 IFT27 THOC2 CXorf56 CREBBP MRPS22 ZBTB24 PAK1 LIG4 FAM20C ALOX12B FRMPD4 RIC1 SPART CENPJ KIFBP FANCM ADA2 PPM1B CDT1 ITGA8 ALG3 SYT2 SPEG POU3F3 BPTF ALDH18A1 CYP4F22 TBL2 TBR1 RBMX ALG9 CHAMP1 CHRNA1 ABCC8 TXNL4A MUSK RUSC2 ACAN TCF4 KCNK4 ACTB VAC14 OBSL1 LIMK1 SIM1 EDNRA EVC MSL3 CHAT DCAF17 ADAMTS18 PLK4 DHX37 EXT2 LBR SMS SPECC1L PAX7 WDR73 CENPE RPS15A PYCR1 MN1 RECQL4 TTN PGAP2 GLUL PIGA EIF4A3 ATIC COMT HRAS GPKOW MADD RPL11 RPS19 RTL1 KLF13 MED25 TCTN1 NAA10 GLIS3 ENPP1 UGDH TCTN2 NTNG2 VANGL2 PIGL HECW2 ALX4 BBS9 RPS10 MAP2K1 SLC16A2 NHS AKT1 DLL3 AMMECR1 PLEC WNT3 SIX1 LGI4 NDUFB11 FHL1 CLIC2 DVL1 FANCC METTL5 IGLL1 RRAS PIBF1 BMP4 KAT6B GATA4 STAG1 SPOP MRPL12 ITGB6 EPG5 WDR35 PLVAP CWC27 AIFM1 TTC8 KNSTRN MEIS2 SMARCD1 TRAPPC9 POC1A LMNA PEX11B FKTN RNF113A PTDSS1 SIX2 APC MYT1L VPS53 FOXF1 MAPK1 GDNF SLX4 AMER1 NANS ACTL6B KAT8 RIPK4 BBS1 HMGB3 ITCH SOX6 NUP188 ACTA1 OCLN FOXP2 INTU FAM149B1 ETFB DNAJC21 POMT2 SMCHD1 TRRAP COL11A2 RPL15 RFC2 DPP6 PEX13 AFF2 RPS6KA3 ADAMTSL1 ORC4 PGAP1 DDX6 KIAA0753 TMEM138 MEF2C CNOT3 POLR1D RET MCTP2 EEF1A2 FANCE FBN1 NEK1 GK CTU2 CEP290 COL5A1 MRPS28 CDCA7 STAG2 PHIP INTS1 RSPRY1 CUL4B BCOR HYLS1 PUS7 PIGQ NDE1 ARID2 SVBP TOE1 TREX1 CHRNA7 CDK10 CUL7 PRDM16 SOX5 GRIA4 TARS1 ADAT3 CENPF FANCF PPP2R5D ZNF423 ARVCF COL7A1 PPP2R3C BAZ1B MYO9A EDN3 WARS2 KCNQ1 KCNQ1OT1 SDCCAG8 MYCN SH3PXD2B WDR19 LFNG POMGNT2 DCPS FKRP PAH MYO18B TRAPPC4 PLOD1 BIN1 RNASEH2B HHAT BUB1B POLA1 NEXMIF PRPS1 SAMHD1 SKI CHRND ZNHIT3 SLC35C1 RBBP8 KIF14 SEC24C PSMB8 GTPBP2 NEU1 GTF2I HBA2 TBX22 SMARCD2 PRUNE1 KYNU RPS23 SLC3A1 SOS2 OTUD6B DOCK3 BMPER IGHM MAN1B1 SNAP25 DLX5 C8orf37 NTNG1 TCF20 SEPTIN9 YME1L1 NOTCH2 FZD2 RAB11B ALOXE3 PLCB4 KLHL41 PIGB CNTNAP1 COG5 EED MESP2 PDE4D SMG9 ETFDH ERMARD BBIP1 B3GAT3 AMPD2 KCNN3 KCNAB2 HBA1 AHSG STXBP1 TAZ CAMK2G GJB3 SLC12A2 EXOSC2 MAN2B1 ABCC6 RPS24 COLEC11 RPL18 ZDHHC9 SLC12A6 GABRD FREM2 TRIP13 EXOC7 RAPSN AP4E1 CTH YWHAE RAD21 CLTC CHSY1 MGAT2 SULT2B1 LZTFL1 ALMS1 DOCK6 AP3D1 KIF15 BSCL2 MAPK8IP3 BUB1 GTF2E2 TPM3 VPS13B TBCE VPS37A POLR1A VPS51 GSC NKAP SNRPB KDM5B A2ML1 MAFB NARS1 PUM1 GPR101 SMAD4 NIPAL4 RAD51C CHUK SMOC1 RYR1 PPM1D IFT81 FLNB ROR2 IRX5 KIF22 TUBB3 MAP1B PRDX1 ARL6 SLC6A8 MYSM1 RPS17 CCNK ALG13 COL2A1 LAS1L BRPF1 FIG4 SLC1A4 SLC6A9 AP3B1 BBS5 PNPLA6 MTHFR ACTG2 EXT1 GNS GALNT2 MPDZ HOXD13 FGFRL1 RPS29 AGPAT2 TBX4 TASP1 DPF2 DHX16 PLAG1 FANCG FANCA VARS1 ABCA12 EBF3 HELLS BBS2 ECE1 HP_ABNORMAL_LOCATION_OF_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCATION_OF_EARS KDM6A CLIP2 NFIX UNC80 PUF60 HES7 ACER3 YY1 ARMC9 ADGRG6 CHD3 WNT5A DHPS ATRX SF3B4 RMRP QRICH1 KCNH1 MAP3K7 RB1 PEX12 ACOX1 CCDC22 MMACHC GPC6 TUBB ACP5 IFT27 B9D1 PHACTR1 PREPL CREBBP CEP55 MRPS22 POGZ FGFR1 ZBTB24 FGFR2 LIG4 CDH11 FAM20C HDAC8 ARL3 RAC1 SPART KCTD1 DHCR7 PAX1 ASXL1 ADA2 CTSD GNAI3 KATNIP PPM1B CDT1 RNU4ATAC ERCC4 ITGA8 KIAA0586 WDR37 RPS26 NEB SYT2 EP300 NFIA B3GALNT2 OFD1 ALDH18A1 TMEM107 BRF1 TBL2 DHODH TBR1 BRCC3 ALG9 CHAMP1 COX7B CHRNA1 SOS1 GP1BB ADNP LMX1B CCNQ SETD5 NELFA MUSK RUSC2 ACAN TMEM237 MYOD1 PYCR2 MKS1 BRAF KCNK4 ACTB ORC1 TTI2 VAC14 SATB2 RAB3GAP2 LIMK1 TRAF7 SIM1 EDNRA RELN MSL3 PEX3 CHAT PTPN11 AHI1 TRPS1 ADAMTS18 COG7 GMNN LBR SMS SPECC1L PAX7 TMEM70 RPS15A DNMT3B ERF EBP DVL3 SMC3 KIF7 SEMA5A SLC18A3 CHRNG DPH1 PYCR1 TBC1D20 VAMP1 KIFBP IGF1R MN1 POMK RECQL4 MAF HSPG2 ADSL RBM8A GLUL TTC37 TMEM216 TGDS EIF4A3 ATIC COMT HRAS GPKOW DLX4 WNT7A MADD MARS2 RPL11 RPS19 RTL1 FDFT1 SOD1 ALX3 MED25 MRPS16 TCTN1 NAA10 GLIS3 DIS3L2 BUB3 TCTN2 SYNGAP1 HDAC6 NTNG2 PIGS VANGL2 ALX4 COL13A1 RPL10 RAB23 PEX2 RIT1 BBS9 RPS10 MAP2K1 MBTPS2 ZBTB20 C12orf57 B3GLCT PPP1CB GBA ERCC5 AKT1 DLL3 RBM10 NSUN2 RAB3GAP1 MBTPS1 IFT172 CEP120 SLC25A24 RDH11 TAF1 EYA1 KCNJ2 POMGNT1 RNASEH2A FHL1 DVL1 RPS28 NOTCH3 ATP6V1E1 TRPV4 METTL5 B4GALT7 RRAS PIBF1 BMP4 TENM3 ZEB2 KAT6B ELN NPHP1 GATA4 STAG1 SPOP DAG1 IREB2 MRPL12 STRA6 FGF3 ANTXR1 NRAS EPG5 RPL5 WAC IGF2 ATP6V0A2 WDR35 PLVAP CWC27 AIFM1 TBL1XR1 TTC8 MEIS2 PTCH1 PPP1R12A ASXL2 FRAS1 RERE TMCO1 VPS33B FKTN FLNA CACNA1G COLEC10 KRAS DOK7 RRAS2 PIGV PRRX1 SIX2 CD96 USP9X PIGN UFD1 PHOX2B FOXF1 XYLT1 MAPK1 GDNF AMER1 SUZ12 FBXO11 KAT8 RIPK4 SRCAP BBS1 HMGB3 PEX5 ITCH TBC1D24 SOX6 NUP188 ZNF462 ACTA1 OCLN INTU FAM149B1 GTF2IRD1 RPL35A ESCO2 TRRAP COL11A2 RPL15 RFC2 PDE6D ZBTB18 PEX13 AHDC1 CRPPA NALCN DST XYLT2 MAP2K2 GPC3 ORC4 ADAR SOX4 ATR ORC6 MRAS KIAA0753 LRP2 WASHC5 TMEM138 PRKDC ZMIZ1 GATA1 MEF2C SON CNOT3 RET CNOT1 CDH2 POLE MCTP2 EZH2 INSR CEP41 SHOC2 CCBE1 CDK13 EFL1 EEF1A2 DHX30 CHST3 FBN1 CPLANE1 RARB PEX26 GRIP1 GK CTU2 CEP290 ZIC3 MRPS28 JMJD1C CDCA7 CBL STAG2 TLK2 RPL27 PEX14 INTS1 ADAMTS3 CNOT2 RSPRY1 SLC25A1 CRLF1 TWIST1 TMEM231 QARS1 ALX1 GPT2 BCOR NSDHL GPC4 HYLS1 GREB1L DZIP1L PUS7 PORCN CC2D2A PLAA PEX10 ARID2 LARP7 TREX1 CDK10 ZC4H2 NIPBL HERC1 CANT1 POR SLC26A2 PIEZO2 PRDM16 SOX5 RPS7 TFAP2A CEP57 MVK ADAT3 CENPF PPP2R5D PCGF2 HMGA2 PEX16 MED13L ZNF423 COL11A1 GLI3 CHD7 ARVCF MESD WDPCP CDKN1C FLI1 CDC6 CPT2 RPGRIP1L AFF4 STAC3 TALDO1 CSPP1 PPP2R3C BAZ1B CDC45 MYO9A SMC1A NSD1 ZMPSTE24 FANCD2 EDN3 WARS2 HS6ST2 SDCCAG8 MYCN SH3PXD2B TCTN3 OTX2 FRMD4A GNE TFAP2B LFNG POMGNT2 PIGU DCPS KLHL7 PCLO TAB2 STAMBP CSNK2A1 MYO18B UMPS RNASEH2B BUB1B SMPD4 MED12 TBX1 SPINT2 SCYL2 KIAA1109 FGFR3 PRPS1 DLK1 LMNA TSR2 TWIST2 IGBP1 KMT2A SAMHD1 TPM2 SKI CHST14 RPGRIP1 CHRND LARGE1 RSPO2 ARX MBD5 B3GALT6 KIF14 OCRL SEC24C ATP6V1A GTPBP2 NEU1 GTF2I SETBP1 HBA2 FANCB ASCL1 SMARCD2 SEMA3E KYNU RPS23 SLC3A1 SOS2 OTUD6B BMPER TMEM67 AUTS2 FGF20 DDR2 MAN1B1 PSAT1 WNT4 INPP5E NXN SNAP25 GPX4 MITF UPF3B DYNC2LI1 DHCR24 POMT2 PEX19 C8orf37 C2CD3 RAB18 NUP88 PEX1 KANSL1 SEPTIN9 PURA AGRN ERCC1 EFTUD2 RNASEH2C SOX9 NOTCH2 IFT52 FZD2 CEP104 MAB21L1 IFIH1 PLCB4 KLHL41 PIGB CNTNAP1 MRPS14 LETM1 SPRED1 TMEM94 COG5 VIPAS39 WNT3 POLR3A SETD1A ALG8 MEG3 EED PEX11B MESP2 PDE4D SMG9 WDR73 COL4A1 SLC39A8 GLE1 TRIM32 ERMARD BBIP1 B3GAT3 HOXB1 ATP6AP2 CTCF PSMD12 KCNAB2 BCL11A RIPPLY2 HBA1 STXBP1 SRY CAMK2G HSD17B4 TMEM260 SLC12A2 EXOSC2 KAT6A CDC42 PAFAH1B1 USP7 RPS24 OSGEP KLHL40 COLEC11 RALGAPA1 RPL18 PEX6 ZDHHC9 NF1 GABRD CAMTA1 FREM2 PBX1 TRIP13 EXOC7 FKRP COG1 MCM5 RAPSN RAF1 PIGT UGP2 PTEN YWHAE RAD21 EXOSC9 PACS1 TMEM165 CHSY1 CTNND2 MGAT2 CENPJ LZTFL1 RASA2 FGD1 DOCK6 ARID1B MAPRE2 AP3D1 LRRC8A KIF15 MAPK8IP3 RXYLT1 BUB1 MECP2 MEGF8 TPM3 BMPR1A BBS10 DONSON NSD2 RREB1 PKHD1 TBCE MAGEL2 RPL35 RPL31 HIRA POMT1 BCL11B LIFR A2ML1 NARS1 PUM1 DSE ATN1 SMAD4 CAMKMT RPL26 TCF20 ARL13B KMT2D LMOD3 SLC5A7 BMP2 SMOC1 PPM1D GAD1 PTH1R PTF1A IFT81 BBS7 FLNB MYH3 TBX2 EDN1 ROR2 PLOD3 MASP1 IRX5 KIF22 TUBB3 MAP1B CHD4 PRDX1 TAPT1 TBX15 ARL6 SRD5A3 ATPAF2 MYSM1 RPS17 PCNT CCNK CILK1 EFEMP2 DDX6 ALG13 COL2A1 SOX11 FIG4 SLC1A4 SLC6A9 LMBRD1 MKKS AP3B1 GJA1 BBS5 B9D2 BBS4 PNPLA6 MTHFR PAM16 ACTG2 EXT1 BBS12 GNS GALNT2 HUWE1 SNRPB MPDZ HOXD13 RAI1 FAT4 RPS29 TASP1 DPF2 DHX16 PLAG1 LZTR1 RTTN VARS1 RPS27 EBF3 B4GAT1 HELLS BBS2 UBE3B ECE1 HP_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIORLY_ROTATED_EARS KDM6A CLIP2 NFIX UNC80 PUF60 HES7 BUB1B YY1 SMPD4 WNT5A ATRX SF3B4 KIAA1109 RMRP KCNH1 MAP3K7 TMEM231 DLK1 BCOR SKI CHST14 RPGRIP1 GPC6 TUBB IFT27 LARGE1 PREPL CEP55 MRPS22 POGZ LIG4 B3GALT6 CDH11 OCRL FAM20C HDAC8 KRAS GTF2I DHCR7 ASXL1 GNAI3 HBA2 PPM1B KIAA0586 FGFR2 ASCL1 RPS26 SEMA3E B3GALNT2 RAB3GAP1 OFD1 SLC3A1 SOS2 TMEM107 B3GLCT SRCAP TBL2 TBR1 TFAP2A CC2D2A COX7B DDR2 ALX1 SOS1 SMC1A ADNP NXN NELFA CDC6 MUSK RUSC2 ACAN TMEM237 GPX4 FRMD4A MITF MKS1 BRAF SHOC2 DHCR24 POMT2 PLAA PEX19 HRAS C8orf37 C2CD3 RAB18 RAB3GAP2 LIMK1 NUP88 PEX1 PEX3 PTPN11 CDT1 TRPS1 CBL ADAMTS18 ERCC1 GMNN SPECC1L PAX7 MRAS FZD2 RPS28 ERF SMC3 KIF7 MAB21L1 SEMA5A PEX2 PYCR1 TBC1D20 PLCB4 MN1 PIGB POMK RECQL4 MAF TMEM216 HSPG2 MAP2K1 RBM8A LETM1 SPRED1 COG5 MEG3 EED PEX11B MESP2 PDE4D SMG9 RTL1 FDFT1 SOD1 COL4A1 GPC4 CD96 ALX3 KAT6B GLE1 BUB3 TCTN2 RBM10 TRIM32 ERMARD BBIP1 PIGS ZEB2 HOXB1 CTCF BBS9 KCNAB2 POLR3A POLE RIPPLY2 HBA1 PPP1CB SRY FGFR1 DLL3 NSUN2 AMER1 EXOSC2 KAT6A CDC42 MBTPS1 IFT172 CEP120 SLC25A24 POMGNT1 FHL1 DVL1 NOTCH3 TRPV4 METTL5 RRAS PEX6 BMP4 AHI1 ELN NPHP1 NF1 GABRD SPOP FREM2 RIT1 FLNA TRIP13 DAG1 FKRP COG1 WAC RAF1 TBL1XR1 TTC8 TCTN3 RAD21 ASXL2 FRAS1 RERE TMCO1 TMEM165 FKTN GLI3 DOK7 CTNND2 WDPCP MGAT2 LZTFL1 RRAS2 NRAS PIGV RASA2 SIX2 FGD1 RPGRIP1L USP9X PIGN ARID1B MAPRE2 PHOX2B XYLT1 MAPK1 GDNF SUZ12 FBXO11 RXYLT1 BUB1 DIS3L2 NALCN BBS1 PEX5 ITCH FAM149B1 GTF2IRD1 BBS10 NSD2 NAA10 TBCE ESCO2 CPLANE1 TRRAP RFC2 PDE6D PEX13 POMT1 CRPPA XYLT2 MAP2K2 GPC3 B9D1 ORC4 BCL11B SOX4 ORC6 A2ML1 KIAA0753 DSE LRP2 TMEM138 ALG9 ATN1 CAMKMT GBA PEX10 SETD5 TCF20 KMT2D CDH2 DVL3 TGDS BMP2 EZH2 SMOC1 PPM1D RNU4ATAC CEP41 CDK13 MYOD1 BBS7 FBN1 EDN1 PEX26 ROR2 GRIP1 CEP290 MRPS28 TLK2 MAP1B PEX14 TAPT1 INPP5E ARL6 QARS1 NSDHL HYLS1 CCNK ARID2 SOX11 MVK MYH3 MKKS AP3B1 CDK10 ZC4H2 BBS5 NIPBL HERC1 CANT1 DHODH SLC26A2 PIEZO2 B9D2 PRDM16 SOX5 KMT2A BBS4 PNPLA6 CEP57 ACTG2 EXT1 RAPSN BBS12 PEX12 PEX16 PRRX1 ZNF423 GALNT2 RET HUWE1 SNRPB CHD7 MPDZ HOXD13 MESD RAI1 FLI1 TMEM67 CPT2 CSPP1 AFF4 PPP2R3C BAZ1B CDC45 SLC18A3 NSD1 DPF2 DHX16 EDN3 SDCCAG8 MYCN LZTR1 OTX2 RTTN ORC1 LFNG POMGNT2 PIGU EBF3 B4GAT1 UMPS BBS2 ECE1 HP_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INNER_EAR RHO CLIP2 JAK2 NDUFS4 NODAL UBR1 ANOS1 DMD CDH11 WFS1 GUCY2D ERCC3 TNFRSF11B LARS2 ATRX PRMT7 COCH MT-CO3 MAP3K7 LARS1 GDI1 ACOX1 NDUFV1 COL11A2 SPATA5 RIPOR2 DISP1 XPC DDB2 PROKR2 CACNB4 PJVK RAF1 PEX6 SAG GATA3 SOX10 POGZ IL17RD GJB2 TECTA STAT4 FGFR2 DNMT1 PRPH2 HGF BEAN1 TOP3A MT-TF FAM20C HDAC8 PCDH15 IFT140 MT-TK CTNNB1 RAC1 SIX1 IL23R ARHGEF6 SLC12A2 GAB1 MT-TE UBA1 NSD2 PAX1 PIK3R1 NDE1 SIX3 PEX10 MT-TQ C8orf37 ERF WDR37 WHRN FIBP KIF7 SYT2 USH2A CAP2 EP300 MT-TV TBL1XR1 TANGO2 SURF1 NLRP3 SNAI2 MYO6 RP1 MECOM FGF10 TXNRD2 EPG5 TBL2 HOMER2 MT-ND5 SLC19A2 AHI1 FXN SEM1 PEX5 PEX26 ACTB RARA SOS1 NKX2-5 UPF3B WDR11 ADGRV1 HESX1 NRTN MEN1 PDK3 MT-ND6 SCN2A SALL4 UBAC2 IQSEC2 ERCC5 SLC1A3 EYA1 MYBPC3 TNNI3 PRPS1 ABCC1 HAAO FITM2 BRAF FGF8 ORC1 NDUFA1 MYO15A FHL2 ERCC8 LIMK1 PTCH1 PDZD7 EDNRB DLL1 ZNF513 RNF13 DNASE1L3 BCS1L COL11A1 SLC25A11 GAS1 MT-TL1 CHAT PCARE ATP6V1B2 PTPN11 LHFPL5 DCAF17 FTO ESPN POLG ATP1A3 MYO7A ODC1 DHCR7 ITGA2 MT-CO1 C4A NDP RET ANKRD1 SMC3 MARS2 CHD7 EPOR SLC18A3 COX10 VAMP1 KCNJ10 EIF3F PAX3 PEX12 NDUFAF1 EPRS1 DCC CISD2 GJB6 MAF COL2A1 MT-CYB MVK SMPX NEK2 TRAPPC11 NABP1 RBM8A SIX6 SEMA3A CEP250 FOXI1 CEP78 ITGB3 COL4A6 IFT88 STRC CDK8 RYR2 RFC1 CCR1 MECP2 EDN3 TAF1A PEX7 POLD1 RPL10 RGR IMPDH1 PRKAR1A GLIS3 CRKL SERAC1 GDF5 OTOGL ENPP1 IFT172 KITLG TDGF1 CAT GLA TMPO MT-ND2 GDNF RAB23 SEMA3C KCNH1 CRYM CYP7B1 PRTN3 CNKSR2 OPA1 ERCC2 TACR3 AKT1 PLN TARDBP GTF2H5 AMMECR1 ERAP1 TCAP LRP12 HACE1 PNPLA2 ATXN3 HLA-DPA1 AGBL5 LRP4 XPNPEP3 ARHGEF18 FRMPD4 EDC3 CHN1 HARS2 TNFRSF1A FLNB KMT2D EYA4 HSD17B4 SDHC GLI2 RRAS CIB2 DLST ARSG ZEB2 MEFV ELN PDGFRB HLA-B TRNT1 ACTC1 MT-TW TET2 RIT1 TMEM38B CACNA1A FGFR1 FGF3 ZIC2 WNT10B CD164 HNRNPK NRAS DCHS1 SLC4A11 CLDN14 RBP3 CA4 SLC26A4 ERCC4 MYO3A CSRP3 ANKH FTSJ1 HCFC1 NAGA PHYH COA8 KISS1R SELENOI RERE SLC12A3 MT-TP KIF1B LMNA NDUFA11 PEX11B DNM1L SLC7A14 ATP6V0A4 RNF113A ERCC6 SNRNP200 SMCHD1 TOPORS ACO2 SUMF1 LDB3 RRAS2 DNAJC3 PIGV TIMMDC1 ATP6V1B1 FGF17 GCDH CSPP1 SEMA4A NDUFS6 EPAS1 STAT3 IDH3A ROBO3 CDH23 POMK DIAPH1 FEZF1 TRIOBP PGM3 SPNS2 TBC1D24 ADK BBS2 SOX6 SDHAF2 FAS GTF2IRD1 CDK5RAP2 DHDDS PTPRQ PDE6A DMP1 RFC2 SDHA GLYCTK TMC1 FRG1 PEX13 HARS1 MT-TS2 SEMA3E PEX14 RPS6KA3 ADAMTSL1 COQ6 TWNK XYLT2 TYMP KLHL7 BCR ADA2 LRAT ATP1A2 MRAS LRP2 GP1BA TK2 LHX3 PRKDC FLI1 ZIC1 CNOT3 SOX2 USP9X CNOT1 PEX1 PTRH2 SCD5 FOXE3 KCNA1 SNAP29 ABHD5 GATA2 MT-ATP6 VHL NDUFS3 ACVR1 TRAPPC4 ZNF469 FGFR3 IL12A-AS1 MRPS28 HS6ST1 CBL STAG2 AHR FOXH1 NDUFV2 MAK CALM1 TNNC1 PPCS CLCNKB SDHD USH1G SGCD SLC25A1 ASCL1 PPIP5K2 RDH5 ZNF81 SCN5A TWIST1 HOXA2 IARS2 MPL SLC25A4 ARNT2 GPC4 CASK CALM2 EBP TMEM132E SARDH PUS7 PORCN SHH SEMA3D OTOA DHX38 NDUFS1 SUFU NDUFS8 PNP MOGS PNPT1 NIPBL CACNA1G GALK1 TRDN CCBE1 PMP22 CDON RLBP1 CNGA1 NKX2-1 PEX3 NR2E3 PRDM16 GJC2 MYL2 MBTPS2 NEU1 COL9A2 LONP1 TFAP2A PEX16 DLX5 MT-TH COL9A3 CNNM2 TARS1 ERAL1 CLCN4 NF2 BCAP31 PEX2 ALG13 NDUFB9 REEP6 YAP1 NEBL PHOX2B NDUFAF4 MDH2 DCDC2 IDH3B PTCHD1 NARS2 NDUFS7 AIP CLIC5 SH2B3 BEST1 SLC39A14 COL4A5 PSAP NUMA1 PRPF31 RRM2B CRYAB AFF4 MERTK PPP2R3C KCNE1 BAZ1B MYO9A ECE1 FIP1L1 DNAJC19 KLRC4 TPRN ROM1 SALL1 TIMM8A PRPF8 PAX2 TMEM126A GJA1 PROK2 OTX2 MFN2 TGIF1 POLR1D CLPP PRRT2 GNRH1 ARSA FKBP14 MYH14 IDS IRF2BP2 AARS1 KISS1 MEOX1 MAP3K20 LRP5 SQSTM1 ABHD12 SOST PSEN2 SUCLA2 PEX19 NOG EYS AP1S2 BTRC BCOR STAT5B IGBP1 TRMT10A TPM2 LOXL3 RP2 RPGR HAND2 PRPF4 PDE6B FUS MT-ND1 MLXIPL VCP B3GALT6 DGUOK CPLX1 REST USH1C GALE NRL ATP2B2 PTPN22 DLX6 GBA GTF2I PML GDF6 SETBP1 NDUFB10 MPZ DOLK MYH7 SMC1A ARL2BP SOS2 IGF1 STXBP2 SNX14 MT-TC TRPV4 POMGNT1 CLRN1 EGF GATAD1 TBK1 TPK1 LOXHD1 SCN1B NDUFAF2 TSPEAR SNAP25 EPS15L1 PPP1R15B SYNE4 PHEX CREBBP PLAA MYPN HRAS KCNQ1 MT-ND3 PTDSS1 MPLKIP NDUFAF3 ACY1 MICOS13 OSBPL2 IL12A TMPRSS3 AGRN RP9 HSD17B10 IARS1 OTOF ALMS1 NDUFA6 CEACAM16 FSCN2 RPS28 CLCNKA DSG2 NOP56 SBF2 ARL6 SPRY4 GMPPA DNMT3B CATSPER2 RFT1 TP63 POLR1C ASAH1 MAP2K1 KIAA1549 COQ2 PAK3 CERKL PRDM5 MRPS2 FOXRED1 COL13A1 COG5 BAG3 LETM1 MITF KYNU C1QBP TTN TMEM126B FLNA ACTG1 VCL BMP4 AGTR2 AP1B1 HOXB1 HOXA11 DDX11 KCNN3 TTC8 MAPK1 KCNAB2 TAC3 KRAS CHCHD10 SDHB NUBPL BTD MYCN MYH9 DSPP GNRHR MT-RNR1 GNPTAB GTF2E2 NSMF AAAS MAX EXOSC2 MAN2B1 ZNF41 SOX3 POU3F4 CD109 BTK HTRA2 DIABLO GP1BB ABCC6 ALG12 RPE65 SLC35A2 SLC9A7 RDX FBN1 PERP PUS3 GRHL2 XPA CDHR1 TAZ CTLA4 CXorf56 RNASET2 MARVELD2 TNNT2 PIK3C2A GABRD ESRP1 ZNF408 TPM1 HGSNAT DUX4 GJB3 NDNF IDUA MT-ND4 MIR96 PISD RAD21 ABCA4 S1PR2 CALM3 NDUFS2 NPM1 TRRAP CHSY1 MGAT2 ZBTB16 LRTOMT ALG11 MPZL2 DUSP6 KDM6A GMPPB RASA2 ELMO2 ACTN2 THPO CNGB1 TRPM4 SGPL1 TRPV3 B2M LORICRIN NOTCH3 MEGF8 IL10 FH SLC52A3 SCAPER VPS13B ARID1B PTEN COL4A3 ADCY1 SGMS2 KIZ TBCK RP1L1 PLS1 PNPLA8 ITGA2B DLG3 LAMA4 CASQ2 CCDC50 SIX5 ATP6AP1 MYH6 A2ML1 SLC17A8 COL9A1 MAFB ABCC9 CRX DES MED12 FKTN SETD5 BSND DKK1 MT-TN NLRP12 FAT4 SKI PROM1 SLC5A7 DVL1 DIAPH3 NDUFAF5 GYG1 THOC2 COL27A1 FAM149B1 NF1 MT-CO2 ROR1 NDUFB11 IMPG2 GRXCR1 VPS11 NDUFB3 ACSL4 COL3A1 SLC26A5 IRX5 TBL1Y TUBB3 TBX22 CCDC141 GRXCR2 GIPC3 GFER PDE6G CRB1 TECRL DMXL2 GRAP ALDH18A1 SPATA7 KARS1 PRPF3 PRCD HDAC4 FOXC1 DAB1 GSDME RDH12 PCNT SYP GJB1 MID2 SLC29A3 TMEM127 TULP1 DBH CLDN9 MT-TI HOXA1 ZNF711 SCN1A NEFL CD151 SLC44A4 KMT2A GLI3 ILDR1 P2RX2 ZMPSTE24 PNPLA6 AIFM1 PSEN1 PDGFB SLC52A2 CCND1 TLR4 PRRX1 DNMT3A ARL3 XRCC4 GUCA1B CDC42 CTBP1 ARHGDIA TSPAN7 RAB39B MPDZ TUB FGFRL1 GBA2 FAM161A JUP USP27X ARX PRPF6 MCM2 TCOF1 MYD88 EFNB1 GNAS LMX1B FLRT3 DHX16 GPSM2 HLA-DPB1 NEXN WAC LZTR1 SPTLC1 NDUFAF8 C9orf72 RTTN IL1RAPL1 OFD1 ERCC1 RBM20 ESRRB MET HP_TINNITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TINNITUS SDHD CCND1 TRAF7 TERT MAX DNMT3A SDHAF2 MDH2 SDHB NF2 DIABLO AIFM1 SMARCE1 KCNQ4 COCH CACNA1A PDGFB RET TMC1 CLCNKB CACNA1D SLC39A14 DKK1 EPAS1 KCNJ5 VHL SDHC NAGA ATP1A2 DLST TMEM127 CYP11B1 SDHA MPL AKT1 SLC12A3 JAK2 TET2 SLC25A11 OSBPL2 FH SCN1A NF1 SLC44A4 CYP11B2 MFN2 PRRT2 BAP1 P2RX2 SUFU MIR96 PIK3CA SMARCB1 DSPP KIF1B SMO HP_OTOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTOSCLEROSIS COL1A1 PSMD12 IDS COL1A2 GDF6 BPTF HP_ABNORMALITY_OF_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EARLOBE BCR RBM10 EIF2S3 RAC1 CDH11 TBX1 COX7B PIGY PIGB FGD1 PIK3CA GLI3 GP1BB CHD7 DOCK7 ARVCF NDUFB11 PTPRF KAT6A FGFR2 CUL4B RDH11 ATRIP COMT CEP152 FLI1 HRAS UFD1 POLR3A CDC6 VPS53 KMT2C ELN AHDC1 MLXIPL SLC35C1 PCNT ATR COL3A1 B4GALT7 CREBBP BMP4 PLAGL1 ZEB2 PIGQ ABHD5 RBBP8 EP300 SEC24C CRKL BRAF UGDH GRIA3 PHF6 CENPJ KCTD1 SETBP1 GJA1 VPS13B HYMAI RREB1 HBA2 PLK4 SLC26A2 ESCO2 MAPK1 EFTUD2 HCCS SMS SMOC1 NOTCH2 HBA1 CENPE HIRA TRAIP FIG4 JMJD1C SEMA3E DHCR24 EBF3 EHMT1 SMARCD1 IL1RAPL1 TBL1XR1 HP_LOW_SET_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SET_POSTERIORLY_ROTATED_EARS CLIP2 HES7 GLI3 BUB1B CTNND2 WDPCP LZTFL1 RMRP RRAS2 TMEM231 DLK1 NRAS RASA2 FGD1 RPGRIP1L USP9X PIGN RPGRIP1 IFT27 XYLT1 MAPK1 SUZ12 PREPL CEP55 BUB1 NALCN LIG4 BBS1 KIF7 PEX5 RAB3GAP2 OCRL ITCH HDAC8 FAM149B1 GTF2IRD1 GTF2I BBS10 NSD2 GNAI3 NAA10 ARID1B HBA2 PPM1B TBCE KIAA0586 CPLANE1 RFC2 FGFR2 PDE6D PEX13 SEMA3E NF1 RAB3GAP1 TUBB OFD1 MAP2K2 SLC3A1 GPC3 B9D1 SOS2 TMEM107 TBL2 TBR1 TFAP2A CC2D2A A2ML1 KIAA0753 DSE ALX1 UNC80 TMEM138 SOS1 RAF1 CAMKMT SMC1A ADNP GBA NELFA PEX10 SETD5 ACAN TMEM237 PTPN11 COG1 MKS1 TGDS BRAF SHOC2 SKI CTCF PLAA PEX19 EZH2 C8orf37 C2CD3 RAB18 LIMK1 CEP41 PEX1 BBS7 TMCO1 EDN1 TRPS1 ERCC1 SMOC1 GRIP1 CEP290 MRAS DHCR7 MRPS28 CHST14 RERE DHCR24 ERF CBL SMC3 SEMA5A PEX2 TBC1D20 PEX14 BCOR INPP5E PLCB4 ARL6 RECQL4 TMEM216 HSPG2 MAP2K1 RBM8A KRAS LETM1 SPRED1 NXN SF3B4 HRAS HYLS1 MEG3 EED PEX11B MESP2 RTL1 FDFT1 SOD1 GPC4 CD96 ALX3 ARID2 GLE1 PEX26 BUB3 TCTN2 TRIM32 ERMARD BBIP1 MYH3 MKKS ZC4H2 BBS5 NIPBL HERC1 CANT1 DHODH BBS9 SLC26A2 B9D2 PEX3 KCNAB2 PRDM16 KMT2A BBS4 RIPPLY2 HBA1 SLC25A24 PNPLA6 B3GLCT PPP1CB CEP57 ACTG2 MVK SRY DLL3 EXT1 BBS12 RBM10 NSUN2 PEX12 PEX16 PRRX1 NPHP1 KAT6A ZNF423 GALNT2 CDC42 IFT172 CEP120 CHD7 HOXD13 ROR2 RAI1 FLI1 TMEM67 FGFR1 TRPV4 METTL5 CSPP1 AFF4 RRAS PEX6 BAZ1B AHI1 ELN NSD1 GABRD FREM2 RIT1 TRIP13 SDCCAG8 LZTR1 OTX2 RTTN FRMD4A LFNG TTC8 TCTN3 MAPRE2 RAD21 UMPS FRAS1 BBS2 HP_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR MEOX1 RHO KDM6A CLIP2 CR2 SALL4 CDH11 CXCR4 IL6R RSPH4A AGA TBX1 AIFM1 SF3B4 FGFR3 EYS MAP3K7 RELB FANCI MGP CFI TCF3 NCKAP1L SKI GDF5 RP2 RPGR EYA1 PRPF4 ACP5 PDE6B MLXIPL SLC35C1 ICOS CCDC114 KANSL1 IDS SAG FGFR2 B3GALT6 CFAP298 FBXW11 CPLX1 OCRL FAM20C HDAC8 SEC24C ALOX12B BMP4 IFT140 NSD1 NRL PTPRC SIX1 PSMB8 PTPN22 CCDC103 CD3D CD81 FMR1 GTF2I NSD2 DHCR7 GDF6 PAX1 SETBP1 CCNO JAGN1 ACTL6A C8orf37 ERF LRRC6 TAF1 GAS2L2 SMARCD2 RPS26 EP300 STAT3 ZMYND10 ANKH CREB3L1 NEK10 CCDC65 OFD1 RPS23 BPTF MSX1 CYP4F22 ARL2BP FRAS1 RP1 IL7R JAK3 FGF10 TELO2 SRCAP TBL2 DHODH TP63 RSPH1 DCLRE1C TFAP2A AHI1 DOCK3 GAS8 DEAF1 DDR2 IGHM ALX1 TSHZ1 POMGNT1 PRKCD CLRN1 EYA4 GP1BB SMC1A NELFA DNAL1 UBB TXNL4A IL17RA COL1A2 DNAH9 A2ML1 TNFSF12 CREBBP MASP1 CDH1 WDR26 DNAI2 LRRC8A LIMK1 MS4A1 EDNRA ZNF513 GRHL3 DNAAF1 SLC25A11 AIRE NTNG1 TCF20 DNAH1 GATA1 CCDC47 PCARE TRPS1 RP9 COL2A1 NFKB1 POLR1B EFTUD2 GMNN OTOF SPECC1L NOTCH2 ALMS1 DCHS1 FSCN2 RPS28 SNX10 BLM ARHGAP29 SMC3 DNAAF3 CHRNG ALOXE3 ARL6 RFXAP TNFRSF13C MAGT1 NBN RECQL4 POLR1C DNAAF5 KIAA1549 GNPTAB NEK2 WIPF1 CERKL PRDM5 LETM1 CARMIL2 TMEM216 KMT2E COMT IFT88 VHL USB1 ANAPC1 TAPBP DLG1 ALX3 BLNK TSR2 RGR GJA1 IMPDH1 IL6ST ENPP1 IFT172 RTL1 COL1A1 PSMD12 NECTIN1 PEPD PIGL ZEB2 SPAG1 GJB6 NOG IRF6 PGM3 SPEF2 RAB23 TTC8 PRTN3 KCNAB2 POLR3A TNFRSF11A SDHB B3GLCT RFXANK RSPH9 RAG1 MYCN SRY DNAAF2 SETD2 RUNX2 SLC25A24 AMMECR1 AMER1 MAX RPL11 POU3F4 BTK TTC25 ERCC8 ABCC6 USH2A MEG3 RPE65 HLA-DPA1 ARMC4 AGBL5 EDN1 CYBB RAC2 ARHGEF18 NOTCH3 FLNB MAN2B1 KMT2D CDHR1 NFKB2 IGLL1 SDHC IL2RG CTLA4 DLK1 DLST ELN PIK3C2A WAS GABRD TNFRSF13B FREM2 ZNF408 FLNA HGSNAT SC5D HNRNPK SOST FGF9 RBP3 CA4 SH3KBP1 PLG TCTN3 CCDC39 CD79A WDFY3 DNAI1 RAD21 ABCA4 NCF4 RERE SDR9C7 KIF1B LMNA NME8 CD3E SLC7A14 ERCC6 SULT2B1 SNRNP200 CD19 TOPORS CCDC151 PRRX1 ELMO2 ZNF341 SEMA4A MYT1L EPAS1 UFD1 FLII STAC3 IDH3A TCIRG1 CNGB1 MAPK1 KIF15 TGM1 TRMT1 ACTL6B SLITRK6 RAI1 ANKRD11 TNFSF11 KIF7 DNAH5 BBS2 MED13 SDHAF2 FAM149B1 GTF2IRD1 NCF2 FH DOCK8 SCAPER DNAAF6 RREB1 SMCHD1 POR OSTM1 TANC2 PDE6A CPLANE1 CD79B RFC2 SGMS2 KIZ RP1L1 HIRA PDE6D HYDIN STK36 SEMA3E GSC SDHD DNAAF4 TAP2 KLHL7 SNRPB SIX5 CYBC1 LRAT DDX6 KIAA0753 ATN1 CRX RFX5 SETD5 DNAH11 CHD7 NIPAL4 FOXP1 CNOT3 POLR1D DLX4 LBR CYBA CNOT1 HYAL1 PNP RNU4ATAC TGDS FAT4 PROM1 NCF1 BMP2 IKBKB CIITA DVL1 DIAPH3 SDHA CCBE1 GATA2 ADAT3 MYH3 NF1 FBN1 IQSEC2 ACVR1 NAA10 ZNF469 IMPG2 NEK1 GRIP1 MNS1 GJB2 FOXJ1 JMJD1C CDCA7 AHR TBX22 TLK2 MAK ZMIZ1 PDE6G CRB1 RAC1 CFAP300 ADAMTS3 NIPBL TPP2 PCYT1A TWIST1 RET SPATA7 HOXA2 IL2RB PRPF3 PRCD NXN CCDC40 BCOR NFIX RDH12 PORCN ADA CTNND1 LRRC56 TMEM127 TULP1 DHX38 ARID2 SVBP DRC1 LIPN APC2 CD247 CFAP221 AP3B1 SDCCAG8 RLBP1 CNGA1 CD3G NR2E3 PRDM16 KMT2A LRBA ZMPSTE24 LONP1 TMEM67 PRPH2 EXT1 ELANE CLCN7 REEP6 PCGF2 TTC12 PLCG2 RLIM DNMT3A ARL3 FCGR3A GALNT2 MDH2 GUCA1B IDH3B RNF168 CTBP1 ZBTB20 ARVCF TUB ROR2 BEST1 FGFRL1 TCOF1 AK2 PRPF31 FAM161A HDAC4 ADA2 PRPF6 AFF4 MERTK FGF3 TBX4 BCORL1 BAZ1B DPF2 ROM1 PRPF8 HLA-DPB1 DNAJB13 PIK3R1 LRP5 MCIDAS RAG2 TAP1 COL11A2 ABCA12 FKBP14 RSPH3 TRAPPC4 DHDDS UNC119 HP_ACUTE_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_OTITIS_MEDIA JAK3 RFXANK RFXAP RFX5 CIITA HP_ABNORMALITY_OF_THE_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL B3GLCT SNRPB FKTN SIX5 CHRNG GLI3 SLC12A2 TBX15 RPL11 DDR2 EYA1 MAFB SIX1 TSHZ1 EGFR SF3B4 CTBP1 PAX1 SMC1A POR SETD5 CDC6 EDN1 FGFRL1 COL7A1 TCOF1 LETM1 ADAM17 CHN1 SALL4 FAT4 ORC1 PORCN RPL26 FGFR2 CDC45 CPLX1 TP63 EDNRA HDAC8 EFTUD2 GNAI3 NOTCH3 FREM2 TBC1D24 POMT1 NSD2 CDT1 DCHS1 SOST NIPBL TWIST2 POMT2 SMCHD1 MAF GMNN KMT2A HOXA2 GRIP1 RPS26 VPS37A ORC6 RAD21 FKRP MRTFA GSC MED12 SMC3 FRAS1 LARGE1 ORC4 HP_ABNORMAL_COCHLEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_COCHLEA_MORPHOLOGY MT-TS2 USH1G SIX5 KCNJ10 MYO7A CEP78 EYA1 USH1C SETBP1 TIMM8A COCH DDX11 CIB2 NDP FOXI1 SLC26A4 COL4A6 SLC52A2 HARS1 POU3F4 ARSG PCDH15 CDH23 ESPN ORC1 CLRN1 PEX6 SIX1 HP_ABNORMALITY_OF_THE_PINNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINNA KDM6A CLIP2 NFIX PUF60 CDH11 PAK3 WFS1 GNB1 YY1 FOXL2 PEX5 AGA COL6A1 ATRX RMRP QRICH1 SHANK3 RB1 SLC9A6 FLNA MGP BICD2 CEP152 DPYD THOC2 CXorf56 FMR1 KANSL1 CREBBP TRPS1 PAK1 LIG4 FAM20C HDAC8 ALOX12B FRMPD4 RAC1 TBX15 RIC1 ARID1A CENPJ KCTD1 SF3B4 UBA1 KIFBP NSD2 PIK3R1 ADA2 DSE GNAI3 HYMAI TNNI2 CDT1 ACTL6A RNU4ATAC KIAA0586 RPS26 FIBP ALG3 SPEG B3GALNT2 POU3F3 BPTF ALDH18A1 CYP4F22 KCNH1 AP1S2 FGF10 TBL2 DHODH RBMX GPC3 PIK3CA SOS1 GP1BB LMX1B CCNQ NELFA ABCC8 TXNL4A TCF4 COL6A3 PYCR2 NF1 ACTB ORC1 TTI2 ERCC1 OBSL1 ERCC8 NBN RAB3GAP2 LIMK1 TRAF7 SIM1 EDNRA EVC GRIA3 MSL3 CCDC8 GATA1 POMT1 PTPN11 DCAF17 COG7 PLK4 DHX37 GMNN SMS ODC1 WDR73 CENPE RPS15A SMC3 KIF7 TBC1D20 MN1 AIP POMK MAF HSPG2 TTN PGAP2 TTC37 PIGA TGDS EIF4A3 KMT2E COMT HRAS RHOBTB2 DLX4 WNT7A RPL11 RPS19 FDFT1 KLF13 TUBGCP6 RPL10 NAA10 CRKL ENPP1 UGDH SYNGAP1 PIGS PIGL HECW2 PQBP1 TWIST2 RAB23 PEX2 RPS10 MAP2K1 HOXA2 ACBD5 SLC16A2 MBTPS2 TRAIP ZBTB20 TP63 C12orf57 B3GLCT PPP1CB GLI2 ERCC2 PIGK GBA EHMT1 NHS CHRNA1 AKT1 IL1RAPL1 GTF2H5 RBM10 NSUN2 AMMECR1 RAB3GAP1 PLEC WNT3 MBTPS1 AEBP1 PIEZO2 LGI4 BMP2 NDUFB11 RDH11 EDN1 TAF1 EYA1 POMGNT1 MMACHC CLIC2 RPS28 EVC2 ASNS KMT2D PSMD12 METTL5 B4GALT7 RRAS OPHN1 BMP4 TENM3 ZEB2 NECTIN1 KAT6B ELN SPOP RIT1 DAG1 FGF3 ITGB6 CIT HNRNPK DCHS1 RPL5 HCCS WDR35 CWC27 TBL1XR1 KNSTRN WDFY3 PTCH1 PPP1R12A FBXW11 PYCR1 SMARCD1 TRAPPC9 RERE SDR9C7 POC1A LMNA FKTN TET3 COLEC10 PGAP3 RNF113A ERCC6 PTDSS1 FGFR1 HOXA13 RRAS2 DOCK7 NALCN APC MYT1L UFD1 B9D2 VPS53 AMER1 SUZ12 NANS TRMT1 FBXO11 ACTL6B RAI1 RIPK4 DIS3L2 ANKRD11 PLAGL1 KDM3B HMGB3 SOX6 NUP188 ZNF462 MED13 FOXP2 GTF2IRD1 ETFB DNAJC21 BMP1 POMT2 SMCHD1 TPRKB ESCO2 RPL15 RFC2 DPP6 ITGA3 AHDC1 ZBTB18 AFF2 FBN2 CRPPA SEMA3E RPS6KA3 ADAMTSL1 MAP2K2 EZH2 NIN ORC4 DYRK1A BCR KIF1A ATR PMM2 ORC6 PGAP1 PIK3CD DDX6 DENND5A COL6A2 ALG9 ZMIZ1 PTPRF KDM6B LRP4 SON FOXP1 POLR1D CNOT1 INSR CDH2 SSR4 FTSJ1 ABHD5 TRIO CHST3 FBN1 FGFR2 KDSR NEK1 KDM5C FGFR3 KCNK9 CTU2 COL5A1 JMJD1C CBL STAG2 RPL27 ETFA PHIP INTS1 XYLT2 TWIST1 SIN3A NDP CUL4B KRAS BCOR GPC4 CASK NR2F1 PORCN PIGQ NDE1 SVBP IGF2 EBP TOE1 CHRNA7 CDK10 NIPBL HERC1 FANCB RPL35A CUL7 SLC26A2 PRDM16 PIGY RPS7 GRIA4 LONP1 TFAP2A KIF11 TARS1 ADAT3 BLM PCGF2 TBCD GJA1 COX7B MED13L RLIM ARX GLI3 EP300 PAX1 CHD7 ARVCF DACT1 MESD TCOF1 FLI1 CDC6 TOR1A CPT2 AFF4 CSPP1 PPP2R3C PIGO BAZ1B CDC45 H19 BRAF NSD1 ZMPSTE24 PHF6 KCNQ1 KCNQ1OT1 SALL1 HS6ST2 SH3PXD2B WDR19 TFAP2B POMGNT2 TNNT3 PCLO TAB2 FKRP PAH PSAT1 TRAPPC4 PLOD1 BIN1 MEOX1 PIGW HHAT POLA1 SMPD4 MED12 NEXMIF TBX1 TP53RK KCNJ1 SLC6A17 TSR2 IGBP1 TRMT10A SKI CHST14 ZNHIT3 MLXIPL LARGE1 SLC35C1 MBD5 ZNF711 CPLX1 RBBP8 OCRL SEC24C PSMB8 ATP6V1A CLCF1 GTPBP2 GTF2I SETBP1 PTEN HBA2 RSPO2 TBX22 SMARCD2 LSS PRUNE1 RPS23 FRAS1 SOS2 OTUD6B DOCK3 DDR2 MAN1B1 SPECC1L ALKBH8 SMC1A POR DLX5 PPP1R15B MAP3K7 FRMD4A ATP6V1B2 UPF3B COL3A1 SHOC2 DHCR24 RAB18 WDR4 MPLKIP NTNG1 TCF20 CCDC47 UBE2A INTU ADAMTSL2 IQSEC2 CDKN1C EFTUD2 YME1L1 NOTCH2 MRAS CAMTA1 MAB21L1 RAB11B ZIC2 MSX2 ALOXE3 PLCB4 PIGB PCNT POLR1C EIF2S3 LETM1 FAT4 POLR3A SETD1A BHLHA9 EED SMG9 COL4A1 CD96 ETFDH ACTG1 B3GAT3 AMPD2 PIEZO1 DDX11 KCNN3 CTCF MAPK1 KCNAB2 BCL11A POLE HBA1 ANTXR1 AHSG STXBP1 TAZ CAMK2G GJB3 SLC2A1 MAN2B1 FGD1 ABCC6 RPS24 ALG12 COLEC11 BRWD3 KMT2C KCNJ11 OSGEP TBC1D23 RPL18 GJB4 ZDHHC9 SLC12A6 GABRD PBX1 COG1 MCM5 AP4E1 MID2 RAD21 CLTC PACS1 HSPA9 FOXG1 MGAT2 ERCC4 SULT2B1 C2CD3 CPOX CEP120 ALMS1 NRAS RASA2 ATRIP DOCK6 ARID1B MAPRE2 AP3D1 KIF15 BSCL2 TGM1 RXYLT1 NUP133 MECP2 GTF2E2 MEGF8 HYLS1 VPS13B RREB1 TANC2 RPL35 RPL31 HIRA POLR1A ZNF148 VPS51 PEX1 NKAP PHGDH PIGN KDM5B A2ML1 RSPRY1 NARS1 GPR101 COL11A1 RAF1 SMAD4 SETD5 RPL26 NIPAL4 SNAP29 FANCL SLC2A10 TUBGCP2 PIGV RYR1 GAD1 SET TBX2 PLOD3 MYH3 MASP1 SMOC1 FAR1 MAP1B DLK1 CHD4 PRDX1 TAPT1 ERCC3 SCARF2 SLC6A8 RPS17 CILK1 EFEMP2 JAG1 EMC1 ERF LAS1L LIPN BRPF1 SLC1A4 LMBRD1 WAC MEG3 FBXL4 ERLIN2 KMT2A RTL1 PNPLA6 PAM16 TCTN3 EXT1 HUWE1 CTBP1 KAT6A FGFRL1 LAGE3 TUBGCP4 ADNP RPS29 AGPAT2 SIX1 TBX4 BCORL1 TASP1 DPF2 DHX16 PTF1A TPM2 LZTR1 RTTN ABCA12 RPS27 FIG4 EBF3 B4GAT1 NUP107 WNT4 UBE3B ECE1 HP_CUPPED_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_EAR TWIST1 FGF10 PIGW DHODH PIGN FGFR2 FOXL2 PGAP3 EYA1 HUWE1 KDM6A QRICH1 PQBP1 SIN3A PGAP2 BCOR IGBP1 CHD7 TCF4 BRWD3 AFF4 DHCR24 MBD5 RIPK4 PIGV SIX1 PIGO EDNRA PIGL GNAI3 DACT1 ZNF462 ZEB2 KCTD1 DNAJC21 PIEZO1 TBX2 DDX11 CTCF BCL11A PIGY FGFR3 SMS ODC1 FBXW11 SEMA3E MED12 CHD4 POU3F3 FRAS1 ECE1 HP_STAPES_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STAPES_ANKYLOSIS NOG POU3F4 ABCC6 ENPP1 GJB6 GJB2 HP_ABNORMALITY_OF_PERIAURICULAR_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIAURICULAR_REGION JAG1 KDM6A LRP5 BCOR PLCB4 CTNND2 POLR1C PRMT7 SF3B4 XYLT2 FGFR2 ZFPM2 TBX1 GATA6 LETM1 CCDC22 HNRNPK EYA1 ARID1B ALX3 ANKRD11 GJA5 FGFR1 CPLX1 EFTUD2 EIF2AK3 SIX1 ZNF462 GDF1 NKX2-6 NKX2-5 PIGS NSD2 PAX1 SVBP VPS13B GNAI3 NAA10 RAB23 ANK1 TFAP2A B3GLCT SEMA3E GSC SALL4 FLT4 GATA4 SIX5 UBE3B TMEM260 SNRPN AUTS2 GPC3 MED13L KAT6A MAFB GPC4 ALX1 WASHC5 CTBP1 ODC1 CHD7 SPECC1L DACT1 FGFRL1 TXNL4A KCNJ2 TCOF1 GATA5 EXT2 KMT2D CHN1 MITF FLNB EDNRA TASP1 MSL3 SALL1 HK1 UBE2A EDN1 POLR1D HNRNPU IRX5 STAG2 CITED2 KIF7 SEMA5A HP_PREAURICULAR_SKIN_TAG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAURICULAR_SKIN_TAG LRP5 SIX5 UBE3B TMEM260 BCOR SNRPN PLCB4 GPC3 CTNND2 MED13L EYA1 MAFB GPC4 SIX1 POLR1C ALX1 PRMT7 WASHC5 SF3B4 CTBP1 ODC1 CHD7 KDM6A DACT1 FGFRL1 TXNL4A TCOF1 LETM1 EXT2 CCDC22 ARID1B CHN1 FLNB KMT2D ALX3 ANKRD11 FGFR1 CPLX1 EDNRA EFTUD2 GNAI3 TASP1 MSL3 SALL1 PIGS NSD2 SVBP VPS13B EDN1 NAA10 POLR1D HNRNPU IRX5 B3GLCT SEMA3E STAG2 SALL4 KIF7 SEMA5A HP_SMALL_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EARLOBE ABHD5 KCTD1 RBM10 SMS COMT SEC24C TBX1 UFD1 CDC6 HIRA FIG4 JMJD1C AHDC1 SLC35C1 EBF3 GP1BB ARVCF PTPRF RREB1 KAT6A HP_ABSENT_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EARLOBE ESCO2 PCNT RBBP8 ATRIP EP300 CEP152 POLR3A CENPE TRAIP CENPJ ATR COL3A1 B4GALT7 CREBBP PLK4 HP_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTITIS_MEDIA NME8 KDM6A CLIP2 CR2 CD3E RPGR COL2A1 CXCR4 SULT2B1 IL6R RSPH4A AGA CD19 TBX1 JAK3 CD79A TP63 MAP3K7 CCDC151 ALMS1 ICOS RELB MGP ZNF341 CFI TCF3 NCKAP1L UFD1 FLII ACP5 TCIRG1 DCLRE1C MAPK1 KIF15 TGM1 DNAAF1 MLXIPL SLC35C1 CCDC114 KANSL1 IDS NEK10 SRCAP RAI1 ANKRD11 TNFSF11 CCDC65 CFAP298 OCRL DNAH5 SEC24C ALOX12B BMP4 NSD1 PTPRC TNFSF12 PSMB8 CCDC103 CD3D CD81 FMR1 ZEB2 GTF2IRD1 NCF2 ZMYND10 GTF2I DOCK8 DHCR7 NSD2 CCNO JAGN1 DNAAF6 RREB1 DNAI1 CD79B RFC2 LRRC6 TAF1 GAS2L2 SMARCD2 HIRA EP300 STAT3 HYDIN STK36 DLK1 IGHM BPTF MSX1 DNAAF4 CYP4F22 TAP2 IL7R MAN2B1 CYBC1 TBL2 RSPH1 GAS8 DEAF1 PRKCD ATN1 GP1BB RFX5 NELFA DNAL1 DNAH11 BTK UBB NIPAL4 FOXP1 IL17RA DNAH9 DLX4 LBR CYBA A2ML1 KMT2D CREBBP HYAL1 PNP WDR26 RNU4ATAC TGDS NCF1 DNAI2 IKBKB CIITA LRRC8A LIMK1 MS4A1 IRF6 CDH1 GRHL3 SETD2 GATA2 ADAT3 DNAH1 CCDC47 IQSEC2 NAA10 NFKB1 MNS1 FOXJ1 SNX10 OFD1 JMJD1C BLM TLK2 ARHGAP29 DNAAF3 DNAAF5 SPAG1 ALOXE3 FLNA RFXAP RAC1 TNFRSF13C MAGT1 CFAP300 NBN NIPBL TPP2 PCYT1A GNPTAB WIPF1 IL2RB LETM1 CARMIL2 NXN COMT WAS CCDC40 BCOR USB1 ANAPC1 ADA TAPBP DLG1 NECTIN1 BLNK LRRC56 IL6ST DRC1 LIPN RTL1 APC2 PSMD12 CD247 CFAP221 AP3B1 PGM3 SPEF2 SDCCAG8 CD3G PRTN3 LRBA POLR3A RFXANK RSPH9 RAG1 SRY DNAAF2 ARMC4 FGFR2 RUNX2 ELANE CLCN7 TTC12 PLCG2 RPL11 FCGR3A TTC25 RNF168 ARVCF MEG3 HLA-DPA1 ROR2 CYBB FGFR3 TNFRSF13B RAC2 AK2 ELN ADA2 NFKB2 IGLL1 IL2RG FGF3 CTLA4 TBX4 BAZ1B DPF2 HLA-DPB1 DNAJB13 PIK3R1 PTPN22 MCIDAS RAG2 TAP1 SH3KBP1 ABCA12 CCDC39 RSPH3 NCF4 SDR9C7 UNC119 HP_CHRONIC_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_OTITIS_MEDIA NME8 SPAG1 CLIP2 ALOXE3 CR2 RPGR TNFRSF13C CFAP300 TBX1 DNAH5 SULT2B1 RSPH4A AGA DNAAF5 TP63 CCDC151 WIPF1 LETM1 CARMIL2 TCF3 NXN COMT WAS CCDC40 HYDIN UFD1 FLII TGM1 CCDC114 OFD1 TAPBP BLNK RAI1 ANKRD11 LRRC56 OCRL SEC24C ALOX12B TNFSF12 LIPN CCDC103 CD81 FMR1 GTF2IRD1 APC2 NECTIN1 ZMYND10 GTF2I DOCK8 CFAP221 NSD2 CCNO IRF6 PGM3 DNAAF6 RREB1 DNAI1 SPEF2 PRTN3 CFAP298 CD79B RFC2 LRRC6 DRC1 TAF1 HIRA STAT3 STK36 RSPH9 NEK10 CCDC65 DNAAF4 CYP4F22 DNAAF2 TAP2 FGFR2 RUNX2 TBL2 RSPH1 GAS2L2 TTC12 GAS8 DEAF1 IGHM BTK TTC25 GP1BB ARVCF MSX1 HLA-DPA1 NELFA ARMC4 DNAL1 ROR2 DNAH11 NSD1 NIPAL4 DNAH9 AK2 NFKB2 IGLL1 TGDS CTLA4 DNAI2 TBX4 LRRC8A BAZ1B LIMK1 MS4A1 ELN SETD2 GATA2 TNFRSF13B DNAAF1 DNAH1 IQSEC2 HLA-DPB1 DNAJB13 PIK3R1 PTPN22 MCIDAS TAP1 NFKB1 ABCA12 CD19 FOXJ1 CCDC39 RSPH3 JMJD1C CD79A PRKCD DNAAF3 SDR9C7 ICOS HP_THICKENED_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_HELICES PIGW PIGL BRAF PTPN11 TCF4 RIT1 PIGY PGAP3 PBX1 A2ML1 PIGS DYRK1A XYLT2 SOS1 RAF1 LZTR1 BMP2 RB1 RRAS2 PGAP2 NRAS RASA2 ADAMTSL2 FGFR2 KRAS TAF1 SMS MAP2K1 MRAS CBL CDH2 PPP1CB RRAS MAP2K2 SPOP PIGV DIS3L2 PIGO SOS2 HP_LOP_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOP_EAR CHD7 SEMA3E COL5A1 CCNQ C12orf57 HP_PROMINENT_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_ANTIHELIX GLI2 TOR1A AP4E1 RBM10 EVC SLC16A2 EVC2 TRIO WAC KAT6A HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT HGF ADCY1 IARS2 RIPOR2 TIMM8A ESPN IGF1 ATP2B2 CDH23 GIPC3 MARVELD2 HP_MACROTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTIA KDM6A CLIP2 COLEC10 HHAT PAK3 PQBP1 MGAT2 ERCC4 ERCC6 PTDSS1 NEXMIF AEBP1 RMRP PPP1R15B TP53RK AP1S2 SHANK3 NHS CEP120 SLC9A6 KCNJ1 SLC6A17 MGP NAA10 TRMT10A MYT1L MED13L AP3D1 THOC2 CXorf56 ZNHIT3 BSCL2 SUZ12 FIBP TRMT1 FMR1 KANSL1 ACTL6B TRPS1 ZNF711 FBXW11 NUP133 MECP2 HDAC8 SOX6 PSMB8 MED13 ATP6V1A GTF2IRD1 GTF2I KIFBP PTEN PIK3R1 ACTL6A TPRKB TANC2 RFC2 TBX22 ITGA3 LSS ALG3 POLR1A NALCN PRUNE1 ADAMTSL1 ALDH18A1 EZH2 KCNH1 KDM5C PHGDH KIF1A PMM2 TBL2 PGAP1 OTUD6B RBMX PIGN DOCK3 DDX6 DENND5A MAN1B1 NARS1 DSE GPR101 ALG9 ALKBH8 SMC1A SETD5 PHF6 KDM6B SNAP29 EYA1 KMT2D INSR PYCR2 ATP6V1B2 SSR4 SLC2A10 SHOC2 TTI2 ERCC1 CASK RAB18 NBN RAB3GAP2 LIMK1 FTSJ1 WDR4 ANKRD11 SET GRIA3 MBTPS2 TRIO PTCH1 NTNG1 TCF20 UBE2A CBL IQSEC2 MASP1 FAR1 YME1L1 CTU2 WDR73 CHST14 ZMIZ1 SMC3 PRDX1 MAP2K2 ZIC2 PHIP TBC1D20 FLNA TAPT1 PACS1 AIP EIF2S3 UBA1 SIN3A NDP FGFR2 KRAS KMT2E RHOBTB2 EED FDFT1 BRAF JAG1 NDE1 MPLKIP SVBP SYNGAP1 TOE1 CHRNA7 HECW2 NIPBL HERC1 RPL10 KCNN3 KMT2A GRIA4 MAP2K1 SLC16A2 ZBTB20 PPP1CB GLI2 AHSG TAZ CHRNA1 ADAT3 AKT1 CLIC2 SLC2A1 TBCD RAB3GAP1 MAN2B1 RLIM MBTPS1 PIEZO2 DYRK1A BPTF ERCC8 PAX1 ODC1 RDH11 COLEC11 TAF1 MMACHC LAGE3 BRWD3 ASNS OSGEP TOR1A PSMD12 METTL5 TBC1D23 AGPAT2 OPHN1 BMP4 TENM3 BCORL1 BAZ1B NECTIN1 ELN SLC12A6 NSD1 DPF2 SALL1 ITGB6 CIT CWC27 MID2 TBL1XR1 PCLO WDFY3 RAD21 PSAT1 TRAPPC9 NUP107 TRAPPC4 HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL B3GLCT CPLX1 SIX5 EDNRA FGFR2 GNAI3 SLC12A2 TBX15 EYA1 MAFB NSD2 CTBP1 SOST POR MAF EDN1 FGFRL1 COL7A1 GMNN LETM1 CHN1 SALL4 MED12 PORCN RPL26 SIX1 HP_RECURRENT_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_OTITIS_MEDIA NME8 DNAAF5 SPAG1 KDM6A FLNA CD3E RPGR RAC1 MAGT1 CFAP300 LRRC6 COL2A1 DNAH5 TPP2 IL6R RSPH4A PCYT1A CD19 GNPTAB JAK3 CD79A MAP3K7 CCDC151 ICOS RELB IL2RB MGP ZNF341 TNFRSF13C CFI NCKAP1L CCDC40 HYDIN BCOR ACP5 USB1 MAPK1 KIF15 ANAPC1 DNAAF1 MLXIPL SLC35C1 CCDC114 KANSL1 ADA IDS DLG1 NECTIN1 SRCAP CCDC65 CFAP298 LRRC56 IL6ST TCF3 BMP4 DRC1 PSMB8 CCDC103 RTL1 ZEB2 PSMD12 ZMYND10 DHCR7 CFAP221 AP3B1 CCNO JAGN1 DNAAF6 CD3D SPEF2 SDCCAG8 CD3G LRBA GAS2L2 CD79B POLR3A SMARCD2 STK36 RSPH9 NEK10 DLK1 IGHM BPTF MSX1 ADAT3 DNAAF4 SRY DNAAF2 ARMC4 CR2 SETD2 TP63 RSPH1 TTC12 GAS8 PLCG2 RPL11 FCGR3A TTC25 PRKCD ATN1 MEG3 DNAL1 DNAH11 UBB RNU4ATAC FGFR3 TNFRSF13B FOXP1 IL17RA RAC2 DNAH9 DLX4 LBR A2ML1 KMT2D HYAL1 WDR26 ELN ADA2 DNAI2 BLNK IRF6 CDH1 GRHL3 DPF2 DNAH1 NAA10 DNAJB13 MCIDAS SH3KBP1 MNS1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 NFKB2 ARHGAP29 DNAAF3 UNC119 HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT MT-TF TPRN ACTG1 MYH14 POU3F4 MT-TC MT-TS2 GFER NLRP3 MT-CYB LARS2 MT-TL1 MT-CO2 GJB6 MT-TW MT-CO3 MT-ND1 MPZL2 ALMS1 GRXCR1 MPZ IARS2 ATP1A3 MT-ND5 MYO3A P2RX2 MIR96 MYO6 GJB2 OPA1 SYNE4 MT-CO1 GSDME WFS1 MT-ND6 MT-TK MCM2 TIMM8A MT-TV SCD5 GATA3 FGF3 ARSG MT-TQ HP_MIXED_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HEARING_IMPAIRMENT MAN2B1 FGF10 GJA1 FAM20C AMMECR1 FLNA ENPP1 CDH11 FGFR2 EYA1 GDF6 PAX1 ABCC6 HOXA2 CHD7 FGFR3 COL11A2 SGMS2 RPS28 FKBP14 FLNB MAP3K7 ANKH SEMA3E AFF4 PORCN SIX1 B3GALT6 HP_PROTRUDING_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_EAR TP63 CLIP2 WNT7A FKTN TET3 RPS6KA3 INTS1 SMPD4 FOXG1 MED12 ERCC3 RNF113A POMK SCARF2 FGFR1 TRPS1 COL6A1 KDM6A SHANK3 RB1 PQBP1 TTN FLNA SH3PXD2B NDP NALCN APC EIF4A3 ALDH18A1 DOCK6 SKI CHST14 HNRNPK DLX4 LARGE1 KANSL1 ERCC2 COL4A1 RXYLT1 CREBBP NR2F1 MBD5 TUBGCP6 ANKRD11 LIG4 RPL10 ERF PIEZO2 OCRL FAM20C GTF2E2 ZNF462 MEGF8 FMR1 ATP6V1A GTF2IRD1 CLCF1 GTPBP2 KCTD1 GTF2I CHRNA7 SLC1A4 DSE BMP1 TNNI2 CUL7 FBXL4 RFC2 TAF1 DPP6 TBX22 MBTPS2 TRAIP DCAF17 FIBP PLK4 ANTXR1 POMT1 AHDC1 KIF11 CRPPA SPEG PRUNE1 B3GALNT2 TARS1 POU3F3 NHS NKAP CAMK2G GJB3 BLM AP1S2 DYRK1A B3GLCT GTF2H5 EXT1 TBL2 NSUN2 OTUD6B PIK3CD GJA1 ARX HUWE1 COL6A2 LGI4 PAX1 OBSL1 ZDHHC9 LRP4 SON TXNL4A POMGNT1 COL6A3 EYA1 CCDC8 FRMD4A PYCR2 UPF3B TUBGCP4 KMT2D ADNP NF1 SLC16A2 TUBGCP2 POMT2 GJB4 BMP4 TBX4 RYR1 BAZ1B LIMK1 NECTIN1 ELN EDNRA H19 MPLKIP TASP1 CAMTA1 SPOP DAG1 FKRP TPM2 FBN1 PTPN11 IGF2 WDR19 KDSR DHX37 MYH3 NEK1 KDM5C COL3A1 TFAP2B KCNK9 POMGNT2 KNSTRN TNNT3 CLTC PPP1R12A PYCR1 INSR B4GAT1 PACS1 MAB21L1 BIN1 WNT4 HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL SNRPB FKTN SIX5 GLI3 RPL11 DDR2 SIX1 TSHZ1 SF3B4 PAX1 SMC1A SETD5 CDC6 TCOF1 EYA1 FAT4 ORC1 RPL26 FGFR2 CDC45 TP63 HDAC8 EFTUD2 NOTCH3 FREM2 TBC1D24 POMT1 CDT1 DCHS1 NIPBL TWIST2 POMT2 SMCHD1 KMT2A HOXA2 GRIP1 RPS26 ORC6 RAD21 FKRP GSC SMC3 FRAS1 LARGE1 ORC4 GMNN HP_BULBOUS_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBOUS_NOSE KMT2B KIFBP FMR1 PIGW MED12 UNC80 GJA5 PACS1 INTS1 TBX1 PGAP3 SMPD4 FOXG1 AP4M1 TONSL SCYL2 DGCR6 TWIST2 DOCK7 SHANK3 LTBP3 SLX4 ABCC9 PGAP2 EXTL3 COMT DOCK6 SMC3 ASXL3 UFD1 MED13L DLX4 KIF15 CUL4B FREM1 KANSL1 MBD5 EFEMP2 TRPS1 SRCAP GJA8 PQBP1 KAT6B PYCR2 SEC24C TBC1D24 ATP6V1A ACTL6B HECW2 ABCA5 SC5D ESS2 AP4B1 AP4E1 AP4S1 WAC KCNN3 RREB1 CUL7 KCNH1 TRRAP NHEJ1 PIGY SOX5 TBCK TAF1 HIRA ALG3 SLC25A46 RERE STXBP1 MTX2 SRD5A3 DGCR2 CLIC2 EXT1 SLC35C1 DGCR8 RBMX KDM5B MRAS ALDH6A1 CEP55 HUWE1 CDC42 DYRK1A ATN1 GP1BB ODC1 ARVCF OBSL1 MPDZ LMX1B MESD SETD5 DYNC1I2 TCF20 KCNJ2 RUSC2 FBN1 EXT2 MED12L USP9X ATP6V1B2 DDX3X CPT2 MMP2 TBC1D23 TUBGCP2 PIGV TBX4 SATB2 PIGO C2CD3 RNU4ATAC SIM1 PIGL CAMTA1 SPOP SPRTN CCDC8 BRAF CDK19 CCDC47 CIT HK1 CCNQ COL1A2 SNIP1 SMARCAL1 TMEM231 SMS COL11A2 JMJD1C STAG2 MYO18B PYCR1 ECEL1 YY1 SMARCD1 ECE1 HP_ABNORMALITY_OF_THE_CHOANAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHOANAE ITCH ZIC2 SHH GLI3 NBN FOXE1 TBX1 FGFR1 CDH1 NIPBL TP63 PTDSS1 SCARF2 RECQL4 POLR1C SPINT2 BRCA1 LMNA FGFR2 IGBP1 SIX3 USP9X FANCD2 COMT WNT3 SMC1A UFD1 ARID1B NFIX SLX4 CDC45 BRIP1 OFD1 FANCB FAM20C HDAC8 GLIS3 SEC24C CRKL EFTUD2 DISP1 SETBP1 DLL1 FANCM SOST RREB1 FGFR3 POR SMCHD1 ZMPSTE24 MAPK1 ERF KMT2A PALB2 IRF6 NODAL RPS26 HIRA SEMA3E ERCC4 POLR1A TXNL4A RERE PTPN14 FRAS1 FANCF SUFU TCTN3 TWIST1 BCR TGIF1 DHODH SLC12A2 RPL11 FANCI GLI2 CEP55 XRCC2 GP1BB CHD7 GAS1 ARVCF MED12 BRCA2 FGF8 SETD5 ZNF335 TCOF1 POLR1D FANCC SALL4 RAD51C ADGRG1 CDON TDGF1 PTH1R MSL3 MBTPS2 FANCL SRPX2 FANCE FOXH1 ANTXR1 UBE2T RFWD3 PI4KA FANCG WAC FANCA POLR1B PTCH1 MAD2L2 DCHS1 DHCR7 JMJD1C RAD21 RAD51 FAT4 SMC3 HP_NARROW_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_RIDGE LMNA ZMPSTE24 HRAS NRAS POLR3A CEP55 COL3A1 MTX2 PYCR1 WDR73 ALDH18A1 ADAT3 HP_ABNORMALITY_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SEPTUM NECTIN1 NOG FLNB IRF6 ATP6V1B2 TP63 TFAP2A CREBBP PTCH1 NF1 EP300 SIX3 ARSL PAH MSX1 RPS6KA3 NONO TGIF1 HP_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISTAXIS LYST ITGB3 NPM1 F7 ENG GP1BA TERC ZBTB16 SMAD4 GGCX FGB GDF2 VWF NABP1 RUNX1 WIPF1 F8 STAT5B DTNBP1 WAS STAT3 HPS4 F13A1 SBDS FYB1 GATA1 CYP11B1 PRKAR1A ACVRL1 PTPN22 GBA PML GP9 FGG CYP11B2 FERMT3 RASGRP2 BCOR PRTN3 SERPINE1 BLOC1S3 IFNG ITGA2B TERT F10 STXBP1 TBL1XR1 HPS6 F5 GFI1B FGA F13B MYH9 GP1BB HPS1 F2 RARA LMX1B HLA-DPA1 CACNA1D KCNJ5 TBXA2R NUMA1 LMAN1 HPS5 SRC CTLA4 MYD88 PRKACG P2RY12 PLAU FIP1L1 MPL JAK2 TET2 SLFN14 ACTN1 MCFD2 HLA-DPB1 GP6 NBEAL2 PRF1 ETV6 FCGR2C F11 STIM1 IRF2BP2 EPOR HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY WDR35 RHO KDM1A KDM6A CLIP2 UNC80 PUF60 CDH11 SOX4 HES7 NALCN FOXL2 ARMC9 ADGRG6 XYLT1 CHD3 WNT5A AGA DHPS ATRX IFT122 SF3B4 RMRP KCNH1 DMD MAP3K7 SHANK3 RB1 PEX12 GDI1 ACOX1 TTC37 MGP SIX3 SPATA5 KCNA1 CCDC22 MTOR GPC6 TUBB IFT27 B9D1 PEX6 PREPL KANSL1 CREBBP PIGQ SAG POGZ FGFR1 ZBTB24 FGFR2 LIG4 SIK1 MAGEL2 MAN1B1 TBC1D20 FAM20C PIK3R2 HDAC8 IFT140 ARL3 FRMPD4 RAC1 DISP1 ARHGEF6 ARID1A KCTD1 KIFBP NSD2 DHCR7 PIK3R1 ASXL1 ADA2 CTSD KATNIP PPM1B TNNI2 NSUN2 ACTL6A KCNJ8 SEC23A C8orf37 KIAA0586 WDR37 RAD21 NODAL ALG3 STAT3 OFD1 BPTF RP1 PDE4D BRF1 TBL2 FBN1 AHI1 ALG9 GPC3 PEX5 DEAF1 PEX26 PIK3CA GP1BB UPF3B WDR11 GAS1 ADNP SETD5 NELFA TXNL4A ACAN TCF4 TMEM237 KCNE5 HERC2 DYNC2I2 IQSEC2 ERCC5 COG4 SKIV2L ACTB SATB2 OBSL1 NBN RAB3GAP2 LIMK1 TP63 SIM1 EDNRA RELN ZNF513 RNF13 SCN1B PCARE SMARCA2 DCAF17 NFASC LINS1 TRPS1 CKAP2L COL18A1 GMNN LBR SMS SPECC1L PITX2 GDF5 NPAP1 RPS15A DNMT3B EBP DVL3 SMC3 KIF7 SNORD116-1 SEMA5A DPH1 CCND2 PAX3 PIEZO2 SHH IGF1R MN1 RECQL4 MAF HSPG2 RSRC1 NEK2 BPNT2 SIN3A PGAP2 GLUL PIGA TMEM216 KMT2E COMT RLIM HRAS RHOBTB2 IFT88 HMGA2 FUT8 MKRN3 SNORD115-1 WNT7A MARS2 RPL11 MECP2 TONSL RPS19 FDFT1 TUBGCP6 RGR TCTN1 PTCH1 IMPDH1 FBXL3 GLIS3 CRKL SHROOM4 DIS3L2 TMEM107 RUNX2 EIF2AK3 IFT172 VANGL2 PIGL HECW2 ALX4 DLL1 SOS1 PEX13 SMARCD1 PQBP1 PEX10 TWIST2 RAB23 BBS9 RPS10 CNKSR2 MAP2K1 ATP6V1B2 B3GLCT GLI2 GBA AIFM1 SRD5A3 BRAF PEPD NHS TACR3 EFNB1 GNAS AKT1 NONO DLL3 LTBP4 RBM10 AMMECR1 CANT1 RAB3GAP1 TRAPPC9 AKT3 USH2A CEP120 SLC25A24 BMP2 NDUFB11 AGBL5 ARHGEF18 DVL1 RPS28 NOTCH3 GJA1 CHN1 DDX3X PSMD12 TRPV4 MDH1 NDN B4GALT7 DLK1 PIBF1 PRKAR1A DYNC2I1 ZEB2 TRIP11 NECTIN1 ELN NPHP1 PDGFRB GATA4 STAG1 SLC39A13 SPOP SPRTN IFT80 PRMT7 STRA6 DDRGK1 SC5D ANTXR1 CUL7 HNRNPK NRAS DCHS1 SMARCC2 RPL5 WAC TBCK RBP3 CA4 HCCS ANKH TTC8 FTSJ1 KNSTRN HCFC1 WDFY3 MEIS2 FRAS1 FGFR3 INPPL1 RERE RTL1 SNRPN KCNMA1 PEX11B KIT PGAP3 SLC7A14 KRAS DOK7 COL2A1 SNRNP200 TOPORS COX4I1 SUMF1 PIGV FZD2 SIX2 CD96 MAFB MKS1 USP9X SEMA4A MYT1L PIGN UFD1 IDH3A MAPK1 AMER1 TRMT1 ACTL6B SMC1A KAT8 SRCAP LEMD3 BBS1 FOXC1 FLNA TBC1D24 RPL10 BBS2 SOX6 NUP188 MED13 FAM149B1 GTF2IRD1 ETFB PROKR2 ESCO2 PDE6A TRRAP COL11A2 RPL15 RFC2 TRIP12 ANK1 PDE6D ZBTB18 RAI1 AHDC1 AFF2 GATAD2B ADAMTSL1 EZH2 DYRK1A KLHL7 BCR PMM2 SOX18 ORC6 KCNJ6 PIK3CD LRAT DDX6 MRAS KIAA0753 MDM2 LRP2 WASHC5 TMEM138 ERCC6 PRKDC ZMIZ1 SMARCE1 GATA1 MEF2C TCTN2 PSAT1 KDM6B SON SUFU GHR CNOT1 INSR PEX1 NAGA CDH2 POLE IDUA LMNA SNAP29 STRADA CEP41 CCBE1 CDK13 EEF1A2 ADAT3 NEPRO CHST3 FGF3 NEUROD2 PURA KCNN3 NEK1 KDM5C BRCA1 KCNK9 GRIP1 CTU2 ANKRD11 JMJD1C CDCA7 STAG2 AHR NPR2 PTCH2 TLK2 MAK CPLANE1 UQCC2 EDARADD RPL27 ETFA PEX14 ZIC2 INTS1 ADAMTS3 RSPRY1 CRLF1 DOCK7 ZNF81 TWIST1 SLC35A2 UBA1 NDP SHOX STX16 FGF8 ALX1 EXTL3 NSDHL CASK TRIM8 PUS7 NR2F1 PORCN HBB P4HTM SOX11 NDE1 DHX38 ARID2 SVBP EDA LARP7 ACTG1 TOE1 POU1F1 HYOU1 SOST CDK10 NIPBL HERC1 RPL35A SLC26A2 RLBP1 CNGA1 PEX3 NR2E3 PRDM16 PIGY SOX5 RPS7 SLC45A1 NEU1 LONP1 TFAP2A PEX16 KIF11 MTX2 CLCN4 CENPF PEX19 ALG13 REEP6 MYH3 TAF6 GNPAT COX7B MED13L ZNF423 COL11A1 ALDH6A1 GLI3 IDH3B EP300 PTCHD1 PAX1 CHD7 ARVCF BEST1 RNU4ATAC CDKN1C FLI1 PRPF31 HDAC4 TOR1A ABCC9 MERTK TALDO1 CSPP1 PIGO BAZ1B METTL23 ARX SLC18A3 ROM1 WARS2 PRKD1 SDCCAG8 MYCN PRPF8 TRIO POLR1D GNRH1 GNE LFNG COL1A1 PIGU TNNT3 PCLO IDS CSNK2A1 PAH UMPS TRAPPC4 FLNB DHDDS KISS1 DPM1 PIGW FBXO31 RAC3 SMPD4 MED12 NEXMIF TBX1 SCYL2 KIAA1109 EYS TMEM231 BCOR TSR2 IGBP1 TENT5A KMT2A TPM2 RP2 RPGR PRPF4 PDE6B MLXIPL SLC35C1 B3GALT6 FBXW11 CPLX1 PEX2 KIF14 SEC24C NRL MEG3 ATP6V1A GTPBP2 GTF2I HBA2 TAF1 PLK4 SEMA3E KYNU RPS23 SLC3A1 ARL2BP MIR140 OTUD6B DOCK3 BMPER TMEM67 AUTS2 TRIM37 CC2D2A SNX14 SOX10 POMGNT1 CLRN1 INPP5E SLC25A22 NXN POR RIPK4 DYNC2H1 HELLS GPX4 EYA1 BMPR1B WDR26 DYNC2LI1 GPAA1 DHCR24 PWAR1 SETBP1 RAB18 XRCC4 CNTNAP2 NUP88 NTNG1 TCF20 SEPTIN9 UBE2A INTU CBL NFIB RP9 ERCC1 SMARCAL1 ATIC NFIX SOX9 HIVEP2 IFT52 FSCN2 CRIPT PROK2 CEP104 CDKL5 ADAMTS2 SMARCA4 RPGRIP1L ARL6 SPRY4 PIGB PCNT POLR1C KIAA1549 GNPTAB DPF2 GPRASP2 GPC4 MRPS14 PAK3 CERKL LETM1 FAT4 TMEM94 ASXL3 COG5 COG8 MESP2 SMG9 KAT6B ETFDH KISS1R TRIM32 PKDCC BBIP1 B3GAT3 AGTR2 PEX7 HOXB1 SCN2A COLEC11 KCNAB2 ERF TAC3 RIPPLY2 HBA1 DMXL2 FGF17 IFT57 SMO TFAP2B PTPN11 GNRHR HSD17B4 GNAO1 ZNF41 COL1A2 KREMEN1 KAT6A FGD1 CDC42 POLR1A RPS24 TGIF1 RPE65 DICER1 SLC9A7 RALGAPA1 CDHR1 CDON RPL18 MUSK CXorf56 NOTCH2 ZSWIM6 ZDHHC9 SLC12A6 PIK3C2A NF1 PIGG GABRD FREM2 PBX1 ZNF408 HGSNAT COG1 STXBP1 ANOS1 RAPSN CCNQ PHF21A PDHA1 RAF1 AP4E1 PARS2 LTBP3 RYR1 KPTN PIGT UGP2 TCTN3 LRPPRC SP7 PTEN ABCA4 SMARCB1 CSGALNACT1 RPS6KA3 CTNND2 WDPCP FOXG1 MGAT2 LZTFL1 TSHB ARSL ACSL4 DUSP6 ATP6V0A2 SH3PXD2B TMEM70 MYMK NAA10 DOCK6 FLII ARID1B MAPRE2 CNGB1 MID1 MAPK8IP3 SNAI2 NSMF MEGF8 BMPR1A PLCB3 TBX6 ACY1 BBS10 SCAPER VPS13B AP4B1 RREB1 TBCE TANC2 RPL35 KIZ RP1L1 RPL31 HIRA DLG3 PNKP DDR2 MAN2B1 EDN3 EDAR KDM5B NRXN1 PUM1 CRX SMAD4 CAMKMT NSMCE3 PACS2 RPL26 ZNF335 CLP1 MED12L ARL13B KMT2D HYAL1 FANCL MMP2 SKI PROM1 SMOC1 GAD1 OPHN1 PTH1R COL27A1 SET MYOD1 IFT81 BBS7 TBX2 IMPG2 FREM1 ROR2 COL3A1 AGL IRX5 KIF22 HYLS1 MAP2K2 PDE6G CRB1 SH2B1 TAPT1 CEP152 SCARF2 SPATA7 PRPF3 EDNRB PRCD ATPAF2 PIGP RPS17 CACNA1C RDH12 CUL4B CCNK SYP CILK1 EFEMP2 EED JAG1 CEP290 MID2 TULP1 BUB1B BRPF1 ZNF711 SLC1A4 SLC6A9 MKKS AP3B1 BBS5 MITF BBS4 MTHFR PAM16 ACTG2 EXT2 SALL4 CEP57 CLIC2 PRPH2 EXT1 FAR1 BBS12 GNS ATAD3A HS6ST1 GALNT2 FH IARS2 HUWE1 GUCA1B CTBP1 TSPAN7 AP4S1 RAB39B PWRN1 MADD VPS33A TUB RHOA FGFRL1 G6PC3 RPS26 RARS2 FAM161A WDR4 TUBGCP4 USP27X PRPF6 TDGF1 ALX3 RPS29 PLOD1 TBX4 TCOF1 BCORL1 RARB TASP1 FOXH1 ADAMTS10 RTTN ERCC2 IL1RAPL1 VARS1 RPS27 EBF3 ARSB UBE3B ECE1 HP_PROMINENT_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_BRIDGE PIGW UNC80 TCF4 PGAP3 WDPCP ARMC9 MGAT2 MED12 LZTFL1 TP63 NEXMIF DHPS TBX1 SF3B4 COX4I1 FGFR3 NHS RB1 TMEM231 BCOR RPGRIP1L IGBP1 ASXL3 UFD1 IFT27 B9D1 ARX INPP5E MAPK8IP3 KANSL1 AFF2 SMC1A KAT8 NALCN LEMD3 BBS1 KIF7 ALX4 SEC24C RAC1 FAM149B1 BBS10 VPS13B RREB1 KATNIP SEC23A NSUN2 CPLANE1 TRRAP WDR37 HIRA PDE6D OFD1 MED13 DYRK1A BCR SOX18 ORC6 EDN3 OTUD6B KDM5B TMEM67 CC2D2A SOX10 KIAA0753 TMEM138 GP1BB ERCC6 SPECC1L SMAD4 ZMIZ1 TCTN2 ZNF335 TXNL4A STAG1 SNAP29 TMEM237 MED12L ARL13B INSR UPF3B RELN PIGV SATB2 C8orf37 CASK NBN PIGL CEP41 BBS7 DCAF17 AHI1 NFASC CKAP2L ERCC1 ATIC KDM5C BRCA1 SMS HIVEP2 ANKRD11 JMJD1C EBP TLK2 CEP104 HYLS1 KIFBP SH2B1 CEP152 ARL6 PCNT PAX3 RECQL4 HSPG2 CSPP1 DOCK7 GPC4 FGFR2 TWIST1 SIN3A PMM2 PGAP2 EDNRB ATPAF2 TMEM216 COMT RLIM SMC3 MKS1 HMGA2 NSDHL NR2F1 CEP290 TCTN1 NDE1 CRKL TRIM32 BBIP1 FBN1 MKKS BBS5 HERC1 BBS9 COLEC11 MAPK1 PIGY MITF BBS4 IFT57 ACTG2 EXT2 KIAA0586 CENPF NONO CLIC2 BBS12 TAF6 NPHP1 KAT6A ZNF423 GALNT2 XRCC4 IFT172 HDAC8 POLR1A CEP120 ARVCF KAT6B ARL3 RARS2 RAB3GAP2 PIBF1 PIGO ZDHHC9 PDGFRB GATA4 SPOP SPRTN PRKD1 SDCCAG8 RTTN PHF21A TBCK TTC8 TCTN3 MEIS2 EBF3 BBS2 ECE1 HP_ABNORMALITY_OF_THE_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_ALAE RHO KDM1A NFIX UBR1 UNC80 PUF60 CDH11 HES7 PAK3 NALCN ARMC9 ADGRG6 WNT5A ATRX IFT122 PRMT7 KDM6A RMRP QRICH1 DMD MAP3K7 ABCC9 GDI1 MGP SIX3 SPATA5 KCNA1 DPYD XPC DDB2 GPC6 B9D1 KANSL1 CREBBP PIGQ SAG POGZ SIK1 HDAC8 IFT140 ARL3 RAC1 DISP1 ARHGEF6 RIC1 ARID1A KCTD1 DHCR7 PIK3R1 KATNIP NSUN2 KCNJ8 SEC23A C8orf37 NODAL NFIA OFD1 KCNH1 RP1 PDE4D BRF1 DGCR8 BRCC3 AHI1 GPC3 DEAF1 CLCF1 UPF3B GAS1 ADNP CCNQ SETD5 ABCC8 TXNL4A TMEM237 KCNE5 IQSEC2 PYCR2 ACTB VAC14 OBSL1 RAB3GAP2 SIM1 ZNF513 HRAS GPAA1 MSL3 SCN1B CCDC8 PCARE SMARCA2 TRPS1 FTO CKAP2L ADAMTS18 DHX37 COL11A2 GMNN SMS HPDL DNMT3B DVL3 SMC3 TBC1D20 SHH NOVA2 MN1 RECQL4 YWHAE ADSL NEK2 GLUL TTC37 PIGA TMEM216 IFT88 MARS2 MECP2 TONSL TUBGCP6 MED25 RGR TCTN1 NAA10 IMPDH1 CRKL IFT172 WDR19 HECW2 ALX4 DLL1 PEX13 TWIST2 TMEM67 CNKSR2 MAP2K1 ATP6V1B2 PAFAH1B1 B3GLCT PPP1CB GBA AIFM1 EXT2 AKT1 DLL3 ZSWIM6 RBM10 RAB3GAP1 PGAP2 PLEC USH2A CEP120 PHF8 AGBL5 RDH11 DOCK3 TAF1 ARHGEF18 DVL1 FRMPD4 TBX1 GJA1 CHN1 FLNB DDX3X ATP6V1E1 METTL5 DLK1 PIBF1 PPP2R1A PRKAR1A SPOP SC5D ANTXR1 CUL7 HNRNPK TBCK RBP3 CA4 ATP6V0A2 ERCC4 CWC27 TBL1XR1 FTSJ1 KNSTRN PAX3 HCFC1 ASXL2 FRAS1 RTL1 PGAP3 SLC7A14 MED12 KRAS FGFR1 SNRNP200 TOPORS DGCR6 LTBP3 SUMF1 DOCK7 PIGV SIX2 CD96 USP9X SEMA4A PIGN IDH3A AMMECR1 XYLT1 MAPK1 SMC1A SRCAP DIS3L2 ANKRD11 KDM3B PEX5 TBC1D24 BBS2 ZNF462 ALG13 OCLN FAM149B1 ESS2 ESCO2 PDE6A TRRAP PDE6D SLC25A46 GATAD2B RPS6KA3 KLHL7 BCR KIF1A SOX4 KCNJ6 PIK3CD LRAT KIAA0753 LRP2 TMEM138 ALG9 PTPRF MEF2C FREM2 TCTN2 FOXP1 CNOT3 SMARCC2 INSR MCTP2 IDUA EHMT1 CEP41 FGFR3 PTCH1 FGF3 FBN1 NEUROD2 PURA KCNN3 CPLANE1 IGF1R BRCA1 KCNK9 GRIP1 AHR TLK2 MAK PHIP PPP2CA PEX14 ZIC2 CNOT2 ERCC3 CRLF1 ZNF81 SIN3A ALX1 EXTL3 TRIP11 TRIM8 NR2F1 PORCN ERCC5 MYMK DHX38 ARID2 EDA SLC26A2 POU1F1 CDK10 ZC4H2 NIPBL CANT1 RLBP1 CNGA1 PEX3 NR2E3 LONP1 TFAP2A RAI1 KIF11 MTX2 CLCN4 SUFU TWIST1 REEP6 MYH3 PEX16 TAF6 GNPAT NPHP1 ZNF423 NF1 COL11A1 ERCC2 GLI3 IDH3B PTCHD1 PAX1 IER3IP1 IFT52 BEST1 RNU4ATAC FLI1 PRPF31 HDAC4 TOR1A CASK AFF4 MERTK ADAMTS3 PPP2R3C MKS1 ARX ROM1 NGLY1 MYCN SH3PXD2B PRPF8 TRIO ZBTB24 FRMD4A TFAP2B LFNG CSNK2A1 PAH MYO18B DHDDS KLHL15 SATB2 RBM8A RAC3 NEXMIF KIAA1109 EYS PRPS1 TMEM231 BCOR TRMT10A LMBR1 SKI RP2 RPGR HNRNPH2 BPTF NRAS PRPF4 PDE6B ZNHIT3 MLXIPL B3GALT6 KIF14 NRL MEG3 SETBP1 PTEN RIPK4 FGFR2 PLK4 SLC17A5 NACC1 AGA ARL2BP MIR140 TP63 AUTS2 CC2D2A SOX10 DDR2 CEP55 POMGNT1 CLRN1 INPP5E SLC25A22 NXN DYNC1I2 PPP1R15B EYA1 WDR26 SHOC2 DHCR24 PEX19 RAB18 PEX1 BRAF UBE2A NFIB RP9 ADAMTSL2 ATIC NOTCH2 FZD2 FSCN2 CERT1 CAMTA1 CRIPT CEP104 CDKL5 MAB21L1 PEX2 SMARCA4 RPGRIP1L ARL6 EIF2S3 KIAA1549 GNPTAB CSPP1 PMM2 CERKL TMEM94 ASXL3 SETD1A PEX11B MESP2 SMG9 KPTN GPC4 MPLKIP AGTR2 HOXB1 ABCA5 SCN2A CTCF TTC8 ERF SNX14 POLR3A RIPPLY2 DMXL2 DGCR2 GNAO1 ATP6V1A EXOSC2 ZNF41 PIGY KAT6A FGD1 CDC42 RPE65 SLC9A7 KCNJ11 SMARCE1 RALGAPA1 CDHR1 CDON CXorf56 PEX6 PIK3C2A PBX1 ZNF408 CTNNB1 HGSNAT COG1 STXBP1 ORC4 PHF21A PDHA1 PARS2 PIGT TCTN3 LRPPRC RAD21 INPPL1 ABCA4 CSGALNACT1 RNF135 APC TCF4 CENPJ ACSL4 TMEM70 FLII ARID1B CNGB1 KIF15 MID1 MAPK8IP3 NOG WDR35 EXT1 KIF7 PIEZO2 MEGF8 PLCB3 TBX6 SCAPER KIZ RP1L1 VPS51 DLG3 PNKP TGIF1 EDN3 SNRPN MAFB GLI2 CRX FGF8 PEX10 CLP1 MED12L ARL13B SMARCB1 PROM1 XPA BMP2 SMOC1 PPM1D GAD1 PTH1R TBX2 IMPG2 AIMP2 ROR2 PLOD3 AGL IRX5 RERE KIF22 ECEL1 COG6 HYLS1 MAP2K2 PDE6G CRB1 TAPT1 SCARF2 SPATA7 PRPF3 EDNRB PRCD PIGP RDH12 PCNT VPS35L CCNK SYP RNF125 COL2A1 MID2 SLC29A3 TULP1 IFT43 PEX26 BUB1B EFTUD2 LAS1L SOX11 PIGO FIG4 MVK ZNF711 SLC6A9 WAC MITF KMT2A PAM16 ACTG2 KIAA0586 SALL4 WDR4 PRPH2 PEX12 GNS ATAD3A FH XRCC4 GUCA1B TSPAN7 RAB39B MADD TUB RHOA FAM161A TUBGCP4 ELN DYRK1A USP27X PRPF6 TDGF1 ALX3 RARB FOXH1 HK1 IL1RAPL1 EBF3 CEP290 FAM20C HIC1 UBE3B HP_UNDERDEVELOPED_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_NASAL_ALAE LMBR1 NFIX UBR1 NALCN CENPJ SCARF2 NEXMIF RECQL4 DGCR6 PRPS1 SIN3A KCNJ6 EDNRB TWIST2 NAA10 SPATA5 PAX3 ALX1 ASXL3 HNRNPH2 HNRNPK MGP PCNT KANSL1 NOG CREBBP OFD1 CKAP2L SRCAP ALX4 GJA1 CRKL EDA SOX11 MVK PIK3R1 ESS2 NSUN2 ESCO2 MAPK1 RIPK4 MITF ATP6V1B2 MTX2 EXT2 DGCR2 FRAS1 CLP1 TWIST1 BCR TP63 EDN3 DGCR8 MYH3 TAF6 PLEC SOX10 DDR2 ALG9 TRPS1 MADD RDH11 FREM2 RNU4ATAC TXNL4A TBX1 HDAC4 DYRK1A PPP2R3C FLNB ANKRD11 CTNNB1 FGF3 UBE2A PURA TRIO ORC4 PHF21A GMNN CWC27 GRIP1 MYO18B HP_WIDE_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_BRIDGE RHO KDM1A KDM6A CLIP2 PIGW FBXO31 PUF60 SOX4 RAC3 NALCN FOXL2 CHD3 WNT5A AGA TBX1 ATRX IFT122 RMRP KCNH1 EYS MAP3K7 SHANK3 ARID2 RB1 PEX12 ACOX1 TTC37 TSR2 TENT5A KMT2A RP2 RPGR CCDC22 PRPF4 PDE6B SLC35C1 ARX PEX6 KANSL1 SAG OFD1 CDH11 FBXW11 CPLX1 MAN1B1 TBC1D20 PEX2 KIF14 SEC24C IFT140 FRMPD4 NRL TBC1D24 ATP6V1A GTF2I KIFBP NSD2 DHCR7 PIK3R1 ASXL1 ADA2 CTSD HBA2 TNNI2 NSUN2 ACTL6A KCNJ8 SEC23A C8orf37 RAD21 PTCH2 PLK4 ALG3 STAT3 COL11A1 BPTF ARL2BP FRAS1 RP1 PDE4D BRF1 TBL2 OTUD6B TFAP2A AHI1 DOCK3 AUTS2 GPC3 PEX5 TRIM37 DEAF1 SNX14 SOX10 PEX26 ALX1 POMGNT1 CLRN1 GP1BB SPECC1L PEX13 ADNP NXN SETD5 NELFA TCF4 ERCC5 GPC6 GPAA1 SKIV2L ACTB PEX19 CASK RAB18 RAB3GAP2 LIMK1 XRCC4 TP63 EDNRA RELN ZNF513 PEX1 NTNG1 TCF20 PCARE NFASC TRPS1 CKAP2L RP9 PITX2 RPS7 PEX3 HIVEP2 IFT52 DCHS1 FZD2 FSCN2 RPS15A DVL3 KIF7 SEMA5A PEX14 ARL6 PIEZO2 IGF1R PIGB PAX3 POLR1C MAF KIAA1549 DPF2 RSRC1 GPRASP2 NEK2 BPNT2 PGAP2 GLUL CERKL LETM1 KMT2E TMEM94 COMT COG5 RLIM IFT88 FUT8 WNT7A PEX11B MARS2 RPL11 SMG9 RPS19 GPC4 TUBGCP6 FLNA RGR PTCH1 IMPDH1 FBXL3 DIS3L2 RBM10 IFT172 PKDCC PSMD12 PIGL ZEB2 SMARCD1 PQBP1 PEX10 TTC8 RPS10 COLEC11 KCNAB2 HBA1 ATP6V1B2 IFT57 SRD5A3 BRAF PTPN11 EFNB1 LTBP4 AMER1 RAB3GAP1 TRAPPC9 KREMEN1 FGD1 CDC42 POLR1A USH2A BMP2 RPS24 NDUFB11 RPE65 AGBL5 ARHGEF18 DVL1 RPS28 CHN1 DDX3X CDHR1 ARID1A B4GALT7 MED12 RPL18 NOTCH2 ZSWIM6 NECTIN1 ELN SLC12A6 PIK3C2A GATA4 GABRD FREM2 PBX1 ZNF408 PRMT7 STRA6 HGSNAT COG1 SC5D HNRNPK NRAS SOST RAPSN CCNQ SMARCC2 RPL5 PDHA1 RBP3 CA4 RAF1 AP4E1 PARS2 HCCS WDR35 LTBP3 RYR1 KPTN ANKH LRPPRC KNSTRN WDFY3 ABCA4 SMARCB1 GNE RERE KCNMA1 KIT PGAP3 SLC7A14 CTNND2 SNRNP200 TOPORS ATP6V0A2 SH3PXD2B TMEM70 PIGV CD96 MAFB NAA10 MKS1 USP9X SEMA4A MYT1L PIGN UFD1 FLII IDH3A CNGB1 MAPK1 MID1 TRMT1 ACTL6B SNAI2 SRCAP RAI1 FOXC1 RPL10 BBS2 SOX6 NUP188 MEGF8 MED13 GTF2IRD1 TBX6 ACY1 SCAPER AP4B1 ARID1B RREB1 TANC2 ESCO2 PDE6A TRRAP RPL35 RPL15 RFC2 KIZ TBCK RP1L1 RPL31 HIRA LIG4 GATAD2B ADAMTSL1 GLI3 PRKAR1A KLHL7 SOX18 EDN3 PIK3CD LRAT DDX6 PUM1 ALX4 UNC80 WASHC5 CRX MYH3 PRKDC ZMIZ1 SMARCE1 GATA1 PACS2 RPL26 KDM6B SON CLP1 SUFU SMARCA4 KMT2D FANCL FAT4 SKI PROM1 IDUA LMNA SNAP29 STRADA GAD1 OPHN1 CCBE1 CDK13 COL27A1 SET FGF3 IQSEC2 PURA KCNN3 IMPG2 TWIST2 FREM1 ROR2 NEK1 GRIP1 PDGFRB IRX5 KIAA0753 JMJD1C STAG2 AHR MAK DLK1 PDE6G RPL27 FGFR1 CRB1 TAPT1 INTS1 ADAMTS3 PIGT ABCC9 SLC35A2 UBA1 SIN3A SPATA7 SHOX PRPF3 EDNRB PRCD RPS17 IDS RDH12 PCNT CCNK PUS7 CILK1 FBN1 EED SOX11 TULP1 DHX38 SVBP LARP7 KRAS PIGO BRPF1 ACTG1 TOE1 SLC1A4 HYOU1 ERCC6 AP3B1 CDK10 WAC RPL35A MEG3 RLBP1 CNGA1 NR2E3 PRDM16 PIGY MITF SOX5 NEU1 RTL1 PEX16 TXNL4A KIF11 SALL4 CENPF TWIST1 HSPG2 PRPH2 EXT1 GJA1 REEP6 GNPAT ATAD3A COX7B MED13L ARL3 GUCA1B IDH3B EP300 CTBP1 ARVCF AP4S1 VPS33A TUB BEST1 RHOA FGFRL1 G6PC3 FLI1 RPS26 PRPF31 FAM161A CREBBP TUBGCP4 TOR1A PRPF6 MERTK ALX3 RPS29 TCOF1 BCORL1 BAZ1B SMC1A RARB FLNB TASP1 ROM1 WARS2 TPM2 MYCN PRPF8 POLR1D RTTN ERCC2 RPS27 TNNT3 CSNK2A1 PAH ERCC1 UMPS TRAPPC4 DHDDS HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY NME8 SPAG1 STK11 RSPH1 ECM1 GAS2L2 RPGR TTC12 GAS8 CFAP300 ENG PTGER2 LRRC6 DNAH5 TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 BTNL2 CCDC40 DNAH9 HYDIN CCDC114 TAPBP DNAI2 TBX21 LRRC56 ACVRL1 DNAAF1 CCDC103 MCIDAS HLA-DRB1 DNAH1 ZMYND10 DNAAF3 CFAP221 CCNO DNAJB13 DNAAF6 DNAI1 SPEF2 TAP1 CFAP298 DRC1 FOXJ1 OFD1 CCDC39 RSPH3 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 TAP2 HP_ABNORMALITY_OF_THE_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_TIP KMT2B KDM1A KDM6A HSPA9 FLNA PIGW PGAP3 MED12 UNC80 PUF60 APC GJA5 CDH11 TCF4 SMPD4 FOXG1 AP4M1 TONSL TBX1 ATRX SCYL2 QRICH1 DGCR6 DMD SHANK3 LTBP3 SLX4 ABCC9 DOCK7 PIGV GDI1 BCOR SIX2 MYMK EXTL3 TWIST2 PHF8 DOCK6 DPYD ASXL3 UFD1 MED13L BPTF NRAS ARID1B KIF15 COG4 MLXIPL FREM1 KANSL1 MBD5 POGZ TRPS1 SRCAP KDM3B GJA8 KIF7 ALX4 PYCR2 SEC24C TBC1D24 ARHGEF6 ZEB2 FAM149B1 ATP6V1A RPS6KA3 SETBP1 ESS2 AP4B1 AP4E1 RREB1 CPLANE1 TRRAP NHEJ1 TBCK TAF1 HIRA PDE6D ALG3 SLC25A46 NACC1 GATAD2B DLG3 OFD1 EPG5 DGCR8 KCNJ6 RBMX PIK3CD KDM5B TFAP2A RAB3GAP2 SNRPN AUTS2 MRAS FZD2 KIAA0753 CEP55 LRP2 ATN1 GP1BB UPF3B PRKACA PTPRF ADNP LMX1B NXN CCNQ SETD5 DYNC1I2 TCF20 ATP6V0A2 FOXP1 MUSK RUSC2 FBN1 EXT2 MAP3K7 USP9X MED12L KMT2D IQSEC2 ATP6V1B2 MMP2 HDAC8 MCTP2 TUBGCP2 SATB2 OBSL1 CASK C2CD3 RNU4ATAC SIM1 PIGL HRAS GPAA1 PTCH1 CCDC8 BRAF CDK19 CCDC47 TBX2 PURA KCNN3 ADAMTS18 COL1A2 SNIP1 IGF1R ACSL4 SMARCAL1 PRKAR1A SMS KCNK9 AGL JMJD1C STAG2 CAMTA1 TLK2 ECEL1 YY1 COG6 SHH KIFBP PPP2CA FMR1 PACS1 INTS1 EIF2S3 ZNF81 PGAP2 PAK3 TMEM216 HDAC4 COMT LMBR1 SMC3 HNRNPK DLX4 MADD CUL4B PDE4D CCNK SYP MECP2 KPTN PORCN CILK1 EFEMP2 MED25 MID2 PQBP1 PIGQ KAT6B ARID2 FLCN LAS1L PIGO ACTG1 ACTL6B AGTR2 ZNF711 CHRNA7 HECW2 ABCA5 SC5D CDK10 AP4S1 WAC CTCF CUL7 COLEC11 ACTB KCNH1 CNKSR2 PIGY SOX5 ZMPSTE24 TP63 RERE STXBP1 MTX2 SRD5A3 DGCR2 CLCN4 EFNB1 CLIC2 ALG13 CENPJ IDUA EXT1 ZSWIM6 SLC35C1 PRKACB PCGF2 EXOSC2 ZNF41 KAT6A ALDH6A1 XRCC4 HUWE1 CDC42 DYRK1A PTCHD1 ODC1 ARVCF TSPAN7 RAB39B MPDZ MESD TGIF1 SLC9A7 KCNJ2 FRMPD4 FLNB WDR26 ELN DDX3X ATP6V1E1 CPT2 USP27X METTL5 SYT1 ARX TBC1D23 ALX3 CXorf56 TBX4 RARB SPOP SPRTN PRMT7 CTNNB1 KMT2A CIT HK1 MYCN SH3PXD2B PHF21A IL1RAPL1 TMEM231 COL11A2 TFAP2B AIFM1 TBL1XR1 TCTN3 FTSJ1 KNSTRN HCFC1 ASXL2 EBF3 MYO18B PYCR1 KIF11 SMARCD1 CSGALNACT1 RNF135 LMNA ECE1 HP_DEPRESSED_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_TIP ALX4 KDM6A EPG5 FLNA ACTG1 PTCH1 EIF2S3 ZEB2 KMT2A MYCN TBX2 TGIF1 PHF21A COLEC11 ACTB TAF1 MUSK LMBR1 KMT2D TP63 EXT2 CILK1 SHH HP_CONVEX_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONVEX_NASAL_RIDGE TBCE ATR ITCH SATB2 UBR1 CEP152 XRCC4 ALG9 EP300 CTBP1 RMRP FGFR3 SLC25A24 FGFR2 TWIST1 APC FGFRL1 LRP4 ATRIP RNASEH2A LETM1 COL3A1 SLC2A10 CREBBP PEX1 ASXL1 COG4 C12orf57 EFEMP2 ASPH POLD1 PPP2R3C ZEB2 NBN CPLX1 PCNT RBBP8 NUP188 LMNA PTF1A RUNX2 CENPJ NSD2 DONSON PLK4 ERF NHEJ1 WRN POLR3A DNA2 COL1A1 ZMPSTE24 MBTPS2 CENPE TRAIP GRIP1 KLHL7 COL1A2 MEIS2 CSGALNACT1 ATP7A BANF1 ERCC4 VPS13B ERCC2 HP_WIDE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NOSE SMARCA4 WDR35 LARP7 RPS6KA3 BUB1B AIP CRLF1 QRICH1 WNT5A SIN3A TTC37 TRMT10A ZNF341 HDAC4 HMGA2 VPS53 MGP SETD1A GPC4 IDS NANS RNF125 ASPH RAI1 BUB1 LEMD3 BUB3 RTL1 ACTG1 ARID1A MOGS PTEN DONSON KCNN3 SEC23A MEG3 ACTB KCNH1 GRIP1 FUCA1 PAM16 CEP57 KIF11 STXBP1 GDF5 DLK1 TBX1 FGFR1 DYNC2I1 FRAS1 TCTN3 SATB2 BRCC3 CHD8 COX7B MAN1B1 GPR101 PAFAH1B1 CLCF1 NDUFB11 ALG12 LMX1B VPS33A KAT6B DYNC2H1 STAT3 PPP1R15B FHL1 AVP INSR OTUD6B DYNC2I2 ATP6V1B2 SMARCE1 DVL3 SMARCB1 NOTCH2 PIGG RELN IFT80 ACY1 IDUA TMCO1 TRIP13 KMT2A DVL1 CKAP2L ADAMTS18 COG7 OFD1 HCCS TBL1XR1 FZD2 KIF22 YWHAE STAMBP CAMTA1 SKIV2L HP_NARROW_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_BRIDGE TGIF1 KCNJ6 ZIC2 SHH SNRPN FGFR1 RNF13 GLI2 MDM2 GAS1 PWRN1 NDP FGF8 SIX3 RNU4ATAC SIM1 HERC2 BMPR1B GJA1 MKRN3 SNORD115-1 COG4 CDON TDGF1 MMP2 NDN CREBBP PORCN RECQL4 PWAR1 SMARCA2 MAGEL2 EP300 DISP1 FOXH1 DLL1 PAX3 NFIB PTCH1 COL3A1 KCNK9 GDF5 NODAL MED12 NPAP1 SNORD116-1 NONO SUFU HP_PROMINENT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NOSE APC2 LMBR1 ATR CENPE SRCAP NFIX MED12 UNC80 NIN TAF6 SNRPN ACER3 DENND5A PCNT CHD3 MAN1B1 QRICH1 EP300 NONO AP1S2 NHS CEP120 AP4S1 PMM2 CUL4B KAT6B DYNC1I2 EIF4A3 USP9X RBBP8 COG5 RUSC2 RLIM FHL1 EXTL3 RNU4ATAC BPTF GPC4 PDE4D METTL5 WDR73 MBD5 ASPH TTI2 BCL11B PLAGL1 NBN FBXL3 OPHN1 SOX6 SPOP PSMB8 ACTG1 INTU SPART CDK19 FGF3 EMG1 HYMAI TAB2 NSUN2 ACTB PSMD12 PLK4 PEX3 ITGA3 DCAF17 STAG2 CLTCL1 STIM1 CTSK ADAT3 BLM PEX19 LIG4 POC1A HP_CHOANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOANAL_STENOSIS FGFR2 PTDSS1 FAM20C MSL3 SCARF2 RECQL4 CEP55 SETBP1 SOST POR POLR1B FGFR1 NFIX TXNL4A POLR1D DCHS1 SALL4 FAT4 PTH1R FRAS1 HP_FLARED_NOSTRILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_NOSTRILS PDHA1 CDC42 USP9X BRCC3 SIN3A SMOC1 HP_BROAD_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NASAL_TIP PPP2CA PGAP3 PUF60 APC CDH11 EIF2S3 KDM6A QRICH1 DOCK7 DMD ZNF81 PIGV GDI1 BCOR SIX2 PAK3 MYMK TMEM216 HDAC4 PHF8 ASXL3 EXTL3 DPYD BPTF NRAS HNRNPK ARID1B MLXIPL CCNK SYP MECP2 KPTN PORCN POGZ KDM3B MID2 KIF7 ALX4 PIGQ ARID2 ARHGEF6 LAS1L TBC1D24 PIGO FAM149B1 RPS6KA3 AGTR2 ZNF711 SETBP1 CDK10 WAC CTCF CNKSR2 CPLANE1 TAF1 TFAP2A PDE6D ATRX NACC1 GATAD2B EXT2 DLG3 OFD1 CLCN4 ALG13 IDUA ZSWIM6 ATP6V1A PIK3CD RAB3GAP2 SNRPN PGAP2 EXOSC2 ZNF41 KAT6A KIAA0753 XRCC4 LRP2 HDAC8 PTCHD1 UPF3B TSPAN7 PTPRF RAB39B ADNP NXN CCNQ ATP6V0A2 SLC9A7 FOXP1 MAP3K7 USP9X FRMPD4 IQSEC2 FLNB ELN ATP6V1E1 DYRK1A USP27X METTL5 ARX ALX3 MCTP2 CXorf56 CASK RARB HRAS GPAA1 PRMT7 CTNNB1 MED12 SH3PXD2B TBX2 PURA KCNN3 ADAMTS18 IGF1R ACSL4 PHF21A PRKAR1A IL1RAPL1 TFAP2B KCNK9 AIFM1 AGL TBL1XR1 TCTN3 FTSJ1 KNSTRN HCFC1 ASXL2 EBF3 TLK2 KIF11 COG6 RNF135 HP_BIFID_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NASAL_TIP CENPJ BCOR HSPA9 ALX4 ZSWIM6 ALX3 EFNB1 FREM1 ATP6V1B2 FZD2 HP_DEPRESSED_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_RIDGE LMBR1 HSPA9 TDGF1 PAX3 NODAL SOX4 GLI3 CDON BUB1B NALCN PROP1 MN1 TMEM216 PRMT7 DPF2 RMRP DLL1 ABCA12 ARID2 DISP1 HDAC6 TGIF1 FOXH1 TTC37 PTCH1 TMEM231 SIX3 RPGRIP1 COL11A2 PIGL CHRND GAS1 GREB1L SLC35C1 POU1F1 KDF1 DZIP1L CREBBP CEP55 SHH BUB1 CC2D2A SOX11 BUB3 TCTN2 ATRX ITGA8 PEPD RPS19 SMARCD1 PKHD1 B9D2 KCNAB2 PRDM16 FGF8 CEP57 TFAP2B SMC1A TBX1 PRKAR1A B9D1 ZIC2 TCTN3 PHGDH TMEM107 HESX1 PDE4D LHX4 MYH3 GLI2 BMPER MAN2B1 FGF20 CHRNA1 STAG2 PSAT1 ALX4 EDARADD EDAR TRAF6 SMARCE1 WDPCP SOX9 CNOT3 SNAP29 GHR RET ARID1B TMEM67 SMARCA4 MKS1 RPGRIP1L CSPP1 SKI ARID1A SOX3 EFNB1 GLB1 EDA2R GABRD FOXA2 HSPG2 FGFR1 TRIP13 CHRNG PTPN11 SMARCC2 TWIST2 GMNN PAX7 CEP290 OTX2 EDA SMARCB1 PEX12 RERE FAM20C HP_ANOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOSMIA ANOS1 NDNF SCN9A SOX3 DCC GNRH1 FGFR1 ARSL CHD7 PEX7 SEMA3A PROKR2 SOX10 HESX1 FGF17 ADCY3 SHH ARNT2 ATP13A2 KISS1 TACR3 FGF8 IL17RD FEZF1 SMCHD1 FLRT3 CCDC141 DUSP6 NSMF OTX2 SPRY4 WDR11 PROK2 MFN2 DNAI1 SOX2 PHYH ANK1 HS6ST1 KISS1R SEMA3E TAC3 HP_NARROW_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NOSE ABL1 TRRAP PDGFRB TP63 POLE TWIST1 SMC1A EYA1 ACP5 FBN1 DDR2 ERCC6 SCARF2 CARS1 RNU4ATAC HYOU1 GJA1 ERCC8 FGFR2 CCNQ SATB2 HP_ABNORMALITY_OF_THE_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NECK CLIP2 COL2A1 UNC80 PUF60 CDH11 HES7 XYLT1 WNT5A COL6A1 ATRX PRMT7 RMRP RB1 CCDC22 TUBB IFT27 ATP13A2 PEX6 TREM2 IDS MRPS22 POGZ GABRG2 FAM20C HDAC8 DYM NSD2 NDE1 ADA2 TNNI2 GNPTG RNU4ATAC KCNJ8 KIAA0586 WDR37 BSCL2 RPS26 CEP85L BPTF INPPL1 PALB2 BRF1 TBL2 TBR1 SHOX ALG9 PEX5 PEX26 CHRNA1 ZMPSTE24 SOS1 GP1BB LMX1B NELFA MUSK ACAN TCF4 COL6A3 MYOD1 ERCC5 EYA1 GPC6 NF1 BRAF ACTB VAC14 OBSL1 GUSB NBN LIMK1 TRAF7 MYH3 MSL3 KCTD17 CCDC8 GATA1 PTPN11 FTO COG7 DHX37 LBR SMS DHCR7 RPS15A HPDL DVL3 SMC3 SEMA5A CHRNG KIFBP KIF1C IGF1R SELENON KIF7 HSPG2 MEOX1 PGAP2 PIGA VCP TGDS COMT RPS24 HRAS GPKOW MINPP1 WNT7A MADD RPL11 RPS19 MRPS16 RPL10 TECPR2 NAA10 PTCH1 CRKL MYH7 ATN1 PIGS PIGL PEX10 RAB23 RIT1 BBS9 RPS10 KCNH1 MAP2K1 ATP6V1B2 EXOC6B B3GLCT PPP1CB SCN1B TOR1A PEPD EFNB1 GNAS AKT1 DLL3 TRAPPC2 AMMECR1 TICAM1 CANT1 TRAPPC9 SIX1 AEBP1 IFT172 BMPER PHF8 SLC25A24 RDH11 TAF1 DVL1 RPS28 NOTCH3 FOXC2 CHN1 FLNB WDR81 RRAS HABP2 ELN B3GALT6 NPHP1 FOS GATA4 PRKRA SLC39A13 CACNA1A MRPL12 DDRGK1 CUL7 HNRNPK NRAS RPL5 SLC35D1 ATP1A3 ATP6V0A2 WDR35 AIFM1 TBL1XR1 TTC8 KNSTRN LMNA FBXW11 SMARCD1 RERE TMCO1 SCN9A PEX11B KRAS TUBB4A DOK7 PGAP3 MKS1 RRAS2 NALCN PIGN UFD1 CP ROBO3 MAPK1 AMER1 NANS SMC1A SRCAP FUS BBS1 TBC1D24 NUP188 INTU GTF2IRD1 DLK1 TMEM106B NEK9 DRD2 EMD ESCO2 COL11A2 RPL15 RFC2 MAPT SEMA3E SYNGAP1 XYLT2 MAP2K2 GPC3 LIPE BCR PGAP1 PIK3CD ALDOA COL6A2 WASHC5 FHL1 GCH1 LHX3 FLI1 GRN PSAT1 CNOT3 TPM2 CDH2 MCTP2 IDUA ATP1A2 SHOC2 CHST3 CFL2 CAVIN1 GDAP2 SCN2A PNKD GZF1 ANKRD11 MRPS28 JMJD1C CBL RPL27 ERGIC1 INTS1 RSPRY1 CRLF1 IFT43 UBA1 CUL4B LZTR1 STX16 BCOR TRPV4 TRIP11 RTL1 EBP ACTG1 SLC26A2 PRRT2 CDK10 ZC4H2 NIPBL HERC1 RPL35A ABCC6 NKX2-1 PRDM16 PIGY RPS7 TFAP2A PEX16 AGPAT2 NKX3-2 ADAT3 TWIST1 SATB2 PSEN1 PPP2R5D PCGF2 MED13L COL11A1 COL12A1 EP300 ARVCF C9orf72 CIZ1 HDAC4 TCTN2 HPCA PPARG SLC16A2 ABCC9 TALDO1 CSPP1 PIGO BAZ1B GLB1 SLC18A3 SGCE ANTXR2 SDCCAG8 KLHL41 POLR1D GNE LFNG TNNT3 MYO18B NDUFB10 ATP7A PIGW SMPD4 FBN2 TBX1 SCYL2 KIAA1109 FANCI TSR2 IGBP1 TRMT10A KMT2A GDF6 PIEZO2 CHRND CPLX1 PEX2 SEC24C MEG3 GTF2I SETBP1 TGM6 HBA2 SLC35A1 PTCH2 SCP2 RAB3GAP1 SOS2 MIR140 CHMP2B SQSTM1 OTUD6B IGF1 PCDH19 MAN1B1 CEP55 MYF5 PEX13 THAP1 PPP1R15B MAP3K7 GPX4 C8orf37 C2CD3 NUP88 SIGMAR1 ENPP1 UBE2A SMARCAL1 SOX9 PEX3 NOTCH2 MRAS FZD2 PEX14 TTN TBX6 RFT1 POLR1C TBP NFIX LETM1 SPRED1 COG5 FOXE1 ALG8 MESP2 ALS2 GPC4 CD96 GLE1 TRIM32 PKDCC GNAL ERMARD BBIP1 B3GAT3 PSMD12 PIEZO1 KCNN3 TRAF3 COLEC11 KCNAB2 POLE RIPPLY2 HBA1 TLR3 STXBP1 SRY COX20 ANO3 SLC2A1 ATP6V1A TMEM260 FGD1 CDC42 PAFAH1B1 SLC35A2 RPL18 GABRD GABRA1 COG1 TGFB2 RAPSN RAF1 ATP6V1E1 YWHAE RAD21 EXOSC9 FGFR1 PIK3C2A RAB33B KMT2B UNC93B1 HSPA9 APC CTNND2 WDPCP MGAT2 LZTFL1 RASA2 MAPRE2 VPS33A NOG RAB3GAP2 MEGF8 HYLS1 BBS10 DONSON RREB1 PTEN RPL35 TBCK RPL31 HIRA VPS51 GATA2 PEX1 DDR2 MAN2B1 SNRPB SIX5 SNRPN LIFR A2ML1 MAFB SMAD4 MED12 TBK1 SETD5 RPL26 CHD7 DKK1 FANCL SKI SUFU LMOD3 PIGV ACTA1 CNP BBS7 MECP2 PHGDH TBX2 OFD1 ROR2 NLRP1 IRX5 KIF22 TUBB3 ECEL1 FLNA TAPT1 IRF3 TBX15 ARL6 PEX12 GDF3 NBAS ZNF142 NXN NEB MEFV PEX19 RPS17 KCNC3 CEP290 CDK5 BUB1B CAV1 FIG4 DCC SCN1A MKKS ERCC6 BBS5 WAC ERLIN2 BBS4 PAM16 SALL4 BBS12 GNS HUWE1 CTBP1 FGFRL1 CREBBP SPG11 RPS29 MPL TCOF1 TASP1 POP1 HK1 ERCC2 RPS27 ERCC1 BBS2 WNT4 SVIL HP_WEBBED_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEBBED_NECK TAPT1 KRAS BCOR IGF1R AEBP1 MAP2K1 MEOX1 KIAA1109 XYLT2 GDF3 TNNI2 MKS1 BRAF RB1 RRAS2 NRAS RASA2 NALCN TSR2 KMT2A TPM2 LETM1 RPS24 GDF6 RPS17 RAF1 MAPK1 AMER1 RPL11 NF1 RPS19 GPC4 CPLX1 GLE1 PTPN11 ACTG1 MEGF8 B3GAT3 SOS2 PIGL NSD2 PIEZO1 SOS1 ADA2 NAA10 RPL35A RIT1 ZMPSTE24 RPS10 ACTB NKX2-1 RPL35 RPL15 RPS7 SLC35A1 RPL31 B3GLCT PPP1CB STXBP1 GATA2 SEMA3E SALL4 MAP2K2 SRY GPC3 SNRPB DVL3 TMEM260 BMPER A2ML1 MAFB CDC42 CTBP1 LMNA GATA1 LMX1B RPL26 CHD7 FGFRL1 FLI1 RPS26 RPS28 MAP3K7 FOXC2 CHN1 SHOC2 RPS29 RPL18 SMS RRAS HRAS C2CD3 SMC1A SLC39A13 MYH3 TASP1 CHST3 TBX2 LZTR1 CBL RPL5 MRAS ANKRD11 RPS27 IRX5 TNNT3 RPS15A FBXW11 MYO18B CHRNG RPL27 HP_LIMITED_NECK_RANGE_OF_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_NECK_RANGE_OF_MOTION MEOX1 SCN1B GABRA1 GDF6 SCN1A STXBP1 NOG SCN2A GABRG2 PCDH19 SCN9A HP_NECK_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_MUSCLE_WEAKNESS AK9 MUSK VAMP1 CHRNA1 SYNE1 CAV3 SLC25A1 CHRND NEB COL13A1 SELENON ACTA1 PYROXD1 PSAP TPM3 ALS2 MYH7 CHRNE CHRNB1 CRYAB PRPS1 FUS TOP3A MYL1 LAMA2 TRIP4 SLC5A7 TRIM32 SLC52A3 TGM6 SGCG KBTBD13 AGRN CNBP DES RAPSN SYT2 GMPPB TMEM43 COLQ SLC52A2 KLHL41 DMPK TTN LRP4 LMNA SCN4A PNPLA2 SNAP25 FA2H MYH2 LAMB2 TPM2 SPG11 CHCHD10 LMOD3 DOK7 PABPN1 SLC22A5 MYOT MYO9A GYG1 MTM1 GFPT1 MYPN CHAT SIGMAR1 CFL2 RNASEH1 DYSF RRM2B GALC ORAI1 MORC2 SLC18A3 HP_LONG_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NECK FLNA HERC1 EBP ATP7A EYA1 HP_THICKENED_NUCHAL_SKIN_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_NUCHAL_SKIN_FOLD PEX11B PSEN1 CHMP2B SQSTM1 PEX5 A2ML1 PEX26 PEX12 MAPT ALG9 SOS1 RAF1 GRN PEX13 UBA1 RRAS2 TREM2 C9orf72 NRAS RASA2 SLC35A2 VCP PSAT1 PIGN HRAS PEX19 PEX6 TMEM106B RRAS EFNB1 TRAF7 RNU4ATAC PEX2 TBC1D24 PTPN11 RIT1 SLC26A2 GATA1 ENPP1 LZTR1 EBP TRIP11 PEX10 OFD1 ABCC6 PEX1 HNRNPK PEX3 MRAS KRAS PEX16 CBL PEX14 SOS2 HP_BROAD_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NECK TWIST1 B3GLCT SLC2A1 TECPR2 HYLS1 PSMD12 UBE2A RAPSN DHX37 CCDC22 POLE RPS26 COG1 MAPRE2 RPS28 WNT7A IGBP1 NF1 MED12 PPP1CB BPTF NUP88 SVIL HP_CYSTIC_HYGROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_HYGROMA TRAF7 RAPSN KRAS SLC18A3 PTPN11 ATN1 NUP88 RIT1 DOK7 MYOD1 A2ML1 CHRNA1 SLC26A2 PIGS CHRNG CEP55 MAP2K1 KIAA1109 DONSON HNRNPK SOS1 RAF1 LZTR1 TRIP11 IFT43 RRAS2 COL2A1 NRAS RASA2 ESCO2 TGDS LBR WDR35 MRAS CHRND CBL BRAF MCTP2 MUSK RRAS SOS2 HP_ABNORMAL_RETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_MORPHOLOGY RHO CLIP2 LRP5 NDUFA4 FKRP NDP MCOLN1 CTNS GUCY2D ERCC3 RLBP1 RAB28 GGCX ATXN7 RD3 HSD11B2 ACOX1 SLC1A2 RAX2 PRPF4 ARHGEF18 CCDC114 PEX6 CEP55 SAG POGZ STAT4 SLC45A2 MAGEL2 AKT1 TOPORS MT-TK IL23R CCDC103 MT-TE IFT172 CBS CTSD PEX10 ACTL6A LRRC6 NDUFA12 FIBP C8orf37 MT-TV CNGA3 B3GALNT2 MSTO1 MYO6 EYS TMEM107 EPG5 DGCR8 GABRA2 AHI1 GAS8 FAM111A PEX5 G6PC DEAF1 PEX26 RP1 GP1BB RPGRIP1 NELFA TXN2 COL18A1 GNB5 ERCC5 CHST6 RP2 SDHA XYLT2 SCAPER TMEM67 ERCC8 ASPA MT-ND4 RELN HGSNAT DNAAF1 PNPLA6 PCARE NDUFS2 COL2A1 PDE6B PANK2 RDH11 ZNF408 BAP1 PITPNM3 YWHAG CLN6 PRPF6 TBC1D20 MLX POMK MVK BBS5 COL4A1 KMT2E KCNB1 TSC2 TTLL5 PDE6G MT-TF TUBGCP6 PEX7 RGR IMPDH1 RPL10 RB1 SPEF2 PEX2 B4GAT1 TACO1 ACBD5 C12orf57 LZTFL1 HBB ARL3 GTF2H5 UBE3B CABP4 ERAP1 TPP1 XYLT1 HACE1 IFT140 CEP120 SEMA4A SLC19A3 AGBL5 FAM161A NDUFB8 POMGNT1 TBX1 CHN1 FLNB PSMD12 CIB2 ARSG TENM3 ZEB2 RNF113A MEFV FDXR NPHP1 HLA-B NOD2 GABRA5 DAG1 WDR19 MYOC IFT27 CA4 LIPH HCCS PRF1 LPL AMACR NRL CACNA1F WDFY3 PTCH1 CRB1 REEP6 PAX6 SELENOI TMCO1 NME8 SURF1 TMEM127 NTRK2 TERC SNRNP200 SMCHD1 WHRN CCDC151 SUMF1 C1QTNF5 OPN1MW MKS1 UFD1 CP TRMT1 SBDS KCNJ13 DLAT GRK1 MED13 SDHAF2 GTF2IRD1 SALL2 SZT2 ESS2 KCNV2 DNAAF6 HNF4A HLA-A WRN ANK1 FRG1 IFT80 ARL6 CRPPA MT-TS2 SEMA3E PEX14 INPP5E B9D1 DYRK1A PMM2 IVNS1ABP LRAT HADHB CACNA2D4 ELOVL4 GNAQ LRP2 DNAH11 ACVRL1 APOB HCN1 CDK19 PRPH2 RPGR IMPG1 POC1B INSR FOXE3 CDHR1 BEST1 MT-ND6 BBS2 ASAH1 CEP41 POT1 DRAM2 HADHA PDX1 VHL CFHR1 KRT71 MYO5A NSMCE2 GZF1 LIPT1 IL12A-AS1 JMJD1C TTC8 STN1 SPAG1 MT-ND1 ANO10 HK1 DYNC2I2 TRPM1 RDH5 SLC24A1 MT-CO3 SDHD RET CNGB1 STUB1 POLG ACTG1 CRX ARL6IP6 ABCC6 PEX3 DRC1 GDNF IFT74 NEU1 IFNG COL9A2 TFAP2A RAI1 ABCA4 KIF11 RIMS1 COL9A3 CDH23 TMEM98 COX15 PEX16 YAP1 COX7B RLIM PRCD RNF216 CHD7 DACT1 WDPCP RP1L1 CYFIP2 COX8A HPS5 RPGRIP1L CYSLTR2 CNGB3 GNAT1 ROM1 SALL1 PAX2 DNAJB13 ALDH3A2 MT-ATP6 NDUFS4 GPR143 KLHL7 RSPH3 IDS CLDN19 KIAA1549 ARV1 SALL4 AP3D1 ARL13B RSPH4A SMAD4 GABRG2 TMEM231 PROM1 STAT3 TTPA AP5Z1 CHST14 BBS12 VCAN SLC19A2 MLXIPL LARGE1 CYP1B1 USH1C OCRL PEX1 TYR CNGA1 SCN8A NDUFB11 MT-ND2 BCOR MT-CO1 KIF3B BLOC1S3 TUBGCP4 COL11A1 CCDC65 AIPL1 TELO2 RSPH1 GAS2L2 CC2D2A SOX10 DDR2 DNAL1 MFSD8 OCA2 PEX13 CREBBP GUCA1A OAT AGXT DNAI2 DHX38 C2CD3 CEP290 SCN3A IL12A ENPP1 RNASEH1 RBP4 ALMS1 NDUFV1 MAB21L1 DNAAF3 POMT2 DNMT3B SPATA7 SDHB FOXC1 TMEM216 DNAAF5 DYNC2H1 PGK1 COQ2 TUBB4B PRDM5 PDE6C NDUFAF1 RS1 ARL2 KLF11 CFAP410 NDUFAF3 SMPD1 TRIM32 DYNC2LI1 FZD4 ACD GUCA1B PTEN GPR179 ATF6 TERT DGCR2 BBS10 GDF3 SYNJ1 APC ATP6V1A MT-TW PCNA NDUFS7 IDH3A CLN5 ALG12 ARMC4 CTNNB1 CHEK2 TRNT1 FBN1 UBA5 CTLA4 CNKSR2 KCNA2 CTSA NDUFAF2 NDUFAF5 RBP3 MC1R POMT1 GRHL2 CCNQ ATP6V1E1 PLK4 ACTL6B UGP2 EFEMP1 DNAI1 BLK TRAF3IP1 SLC37A4 RRM2B WFS1 PCDH15 GNB3 KRT25 RNU4ATAC FLII TET2 ABCC8 VPS33A RXYLT1 IL10 SRD5A3 ARMC9 GPIHBP1 RREB1 TANC2 PDZD7 RPE65 KIZ HIRA STK36 HPS6 MT-TL1 CLTC TULP1 COL9A1 DSE NMNAT1 KCNJ11 COG1 MT-TN POU3F4 ISCA1 SIX6 BBS7 NF1 IQSEC2 ADAMTSL4 MT-TH GNAT2 NDUFS1 PRPF8 DLK1 SF3B1 CFAP300 KRIT1 PTPN22 CLCC1 FGF12 PDE6D MT-CYB EDNRB PRPS1 CCDC40 GNPTAB TUB PEX19 GM2A PAX4 VPS35L BBS1 TAF2 JAG1 MDH2 ZFYVE26 DALRD3 NDUFS3 OPN1LW PPP3CA MKKS MEG3 MITF BBS4 CRYAB IMPG2 CLRN1 GDF2 CLN3 CCND1 TTC12 DNMT3A GBA NEK1 SAR1B TUBB NR2E3 WWOX ELN CAV1 INS CSPP1 PLOD1 MYD88 BCORL1 HEXA OFD1 IKBKG RTTN CCM2 ERCC2 CFI PHYH PORCN MAPRE2 ERCC1 MT-CO2 LRIT3 LYST PUF60 TRAK1 NDUFA13 PDE6H MAPKAPK3 TNFRSF11B IFT122 RMRP HLA-DRB1 BCS1L CCDC22 MMACHC USP45 FKTN TINF2 NDE1 KIAA0586 DYNC2I1 MT-ATP8 PDHA1 GATA3 TBL2 MT-ND5 TIMP3 IGFBP7 DNM2 DNAH9 TMEM237 UNC119 NEK2 CHM UBAC2 LAMA1 GDF6 TREX1 ACTB KIF1B RAB3GAP2 LIMK1 ZNF513 SLC25A11 ESPN ADAMTS18 CACNA1A LPAR6 MYO7A C4A NDUFA9 BLM PCYT1A GALC MAK PEX12 TTC21B NCAPG2 CEP78 COMT IFT88 HADH PDE6A CCR1 GMPPB AARS1 CDH3 TCTN2 GRIN2D NYX PIGL NDUFAF6 CEL BBS9 EXOSC3 TMEM138 PRTN3 FLVCR1 CAPN5 IQCB1 NHS DNAAF2 SLC38A8 GRM6 NDUFV2 NUS1 CDK4 RAB3GAP1 TTC25 USH2A HLA-DPA1 TP53 SDHC ZNF423 DLST BMP4 SLC24A5 WAC LRRC32 ATP6V0A2 SDCCAG8 CWC27 CCDC39 COA8 TRAPPC9 MORC2 PEX11B SLC7A14 ERCC6 ACO2 SLC25A15 DGCR6 GCDH MYT1L EPAS1 HPS4 HMX1 GABRB2 WT1 PIK3CA PIEZO2 VSX1 FAS ZMYND10 DNAJC21 TSC1 DHDDS NAA10 PRPF3 STXBP1 RFC2 LOXL1 ATOH7 KIF5A ADAMTSL1 DNAAF4 PGAP1 DDX6 OPA1 SHH HMCN1 WASHC5 ADGRV1 MT-ND4L CTNNA1 IDUA COL8A2 ZNF469 APOE NEUROD1 MGMT MAX AHR ZMIZ1 GALNT3 INTS1 ERCC4 CYP4V2 OTX2 SLC35A2 HSD17B10 TEK HNF1A HYDIN CASK ALDH1A3 PRSS56 SERPINC1 ITM2B SVBP MTFMT RDH12 CCDC28B MT-TQ FSCN2 FGFR2 ARL2BP TARS1 TEAD1 CENPF NF2 XRCC4 SLC13A5 SLC12A6 IDH3B EP300 MERTK ARVCF ETHE1 PRPF31 HSPD1 NPHP4 PPP2R3C BAZ1B GLB1 KLRC4 LMNA WARS2 EEF1A2 GRN TERF2IP CNNM4 POMGNT2 TRAPPC4 DPM1 CFH HHAT ABHD12 FBLN1 LOXL3 LCA5 FGFR1 CDKN2B PDCD10 NECAP1 FBXW11 SEC24C PET100 GTF2I CEP164 CCNO ENG CLCNKB IL12B SACS NEK10 OVOL2 B3GLCT MIR140 DOCK3 TRIM37 GSS NGLY1 SDHAF1 OPN1SW APPL1 RAB18 MPLKIP GCK AIRE MICOS13 NTNG1 TCF20 DNAH1 TSPAN12 RP9 CEP83 ATXN2 BBIP1 APOC2 ECHS1 CERKL LETM1 FOXRED1 PSAP PEPD POLR3A ACTA2 RSPH9 CHRDL1 TK2 P3H2 EXOSC2 MAN2B1 INVS PPT1 FBN2 RCBTB1 CDKN2A ZEB1 DUX4 DNM1 PISD NDUFA2 SPG11 RPS6KA3 ELMO2 CTC1 ASXL1 NDUFA10 HEXB GTF2E2 FH NSD2 VPS13B CFAP298 MTTP EDN3 SYCE1 MAFB MIR204 MFRP RIMS2 CST3 SIM1 SYNGAP1 KRT74 PROS1 KRAS USH1G TNFRSF11A TRIM44 ADAM9 NDUFS8 MAF NPHP3 FOXJ1 RERE TBX22 PRDX1 SH2B1 DNAH5 FBLN5 CFHR3 LRRC56 CLCN2 CFAP221 B9D2 AP3B2 RTL1 TLR4 SH3BP2 BPTF MPDZ LTBP2 ADAR CACNA1B FGF3 FLCN DHX16 DPP6 HLA-DPB1 PARS2 MCIDAS GNA11 MT-ND3 SCO2 HP_RETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_COLOBOMA NMNAT1 C2CD3 RAB18 CLDN19 MKS1 B3GLCT RAB3GAP2 AHI1 TBC1D20 CEP41 PUF60 RAB3GAP1 INPP5E INTS1 SALL2 PIGL ZEB2 PAX2 CEP120 KIAA0586 PRPS1 CHD7 CEP290 MMACHC TFAP2A SALL4 FIBP SEMA3E FGF3 DHX38 HP_ABNORMAL_CORNEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEA_MORPHOLOGY NOD2 LCAT RHO CLIP2 LRP5 FKRP MCOLN1 FOXL2 CTNS GUCY2D CHD3 PEX5 MAG BRCA1 FGFR1 FOXE3 ATP7B BTNL2 DPYD XPC DDB2 NOTCH2 TGFBI TUBB USP45 GLB1 PEX6 ARCN1 CEP55 SAG POGZ STAT4 CDH11 PAX6 TBC1D20 HDAC8 IFT140 SLC29A3 IL23R TBX15 ALOXE3 PIK3R1 GSN FANCM ACTL6A GNPTG C8orf37 FIBP EP300 B3GALNT2 ALDH18A1 RP1 TMEM107 FGF10 TBL2 DGCR8 AHI1 VSX1 DEAF1 PRDM12 PEX26 AGBL1 XRCC2 GP1BB LMX1B SETD5 AGBL5 NELFA TCF4 COL18A1 COL17A1 UBAC2 MKS1 CHST6 LAMC2 GDF6 VAC14 GUSB ERCC8 RAB3GAP2 LIMK1 SLC20A2 ZNF513 MBTPS2 HLA-DRB1 RPE65 STS PCARE POMT1 ALG11 CERS3 ADAMTS18 PITX2 ATAD3A DHCR7 C4A CRYBB2 NDP RAD51 PCYT1A YY1 SMC3 KIFBP LBR AIPL1 POMK HSPG2 COL11A1 NEK2 NCAPG2 WIPF1 CHMP1A COL4A1 KMT2E FANCD2 COMT HRAS IFT88 GJB2 TBC1D7 CCR1 MED25 GMPPB RGR CTDP1 IMPDH1 BUB3 TCTN2 IFT172 GLA PEX10 TWIST2 DCN RAB23 PEX2 ACTB B4GAT1 B3GLCT ERCC2 TAT NHS MPV17 SLC38A8 GTF2H5 UBE3B SLC25A24 FOXC1 ERAP1 RAB3GAP1 WNT3 NIPAL4 COL7A1 AEBP1 USH2A SERPING1 NDUFB11 PDGFRB NSD1 POMGNT1 ARHGEF18 TBX1 GJA1 FOXC2 FANCC CHN1 TRPV3 KMT2D PSMD12 GJB6 HLA-B PPP1R17 BMP4 TENM3 ZEB2 MEFV ELN LIFR PRMT7 DAG1 SC5D ANTXR1 KRT3 SLC4A11 WAC RBP3 CA4 ERCC4 HCCS MAD2L2 TBL1XR1 GNB5 KIDINS220 CLDN16 ALOX12B CACNA1F WDFY3 PPP1R12A CRB1 POLA1 LMNA KCNMA1 PEX11B FKTN SLC7A14 RNF113A ERCC6 SNRNP200 TOPORS DGCR6 ZNF469 SUMF1 USP9X SEMA4A MYT1L PIGN UFD1 PYCR1 KIF1A PIGL IDH3A SLX4 HMX1 TRMT1 ACTL6B RIPK4 WT1 ANKRD11 HMGB3 PIEZO2 BBS2 KCNJ13 MED13 OCLN FAS GTF2IRD1 DNAJC21 MYORG ESS2 KCNV2 NAA10 IKBKG POMT2 DNAI1 ESCO2 PDE6A RFC2 PALB2 ATOH7 ANK1 AKT1 HARS1 CRPPA DST B9D1 DYRK1A KLHL7 LRAT DDX6 ZMIZ1 TGM1 GLRB FGFR2 RD3 OVOL2 SLC39A4 NAGA EPHX2 IDUA COL8A2 SETD2 FANCE CRYGC KDSR MAF FGFR3 IL12A-AS1 CEP290 CRYBB1 JMJD1C TKFC MT-CYB POLH AHR MAK IKZF1 PPP2CA IQCB1 INTS1 ERCC3 CYP4V2 CRLF1 SREBF1 LAMB3 OTX2 MAB21L2 NRAS TMEM231 WAS ALDH3A2 BCOR SLC2A10 EBP NEUROD2 NR2F1 FBN1 MT-TS2 PIGQ ABCA1 ERCC5 CC2D2A P4HTM NLRP3 DHX38 SVBP CEP78 KRAS ACTG1 ST14 CCDC28B RPGRIP1 NIPBL CRX FANCB JAM2 RLBP1 CNGA1 NR2E3 PITX3 NEU1 PEX16 RAI1 CEP57 SLC39A8 COL9A3 TARS1 TEAD1 CENPF FANCF COL4A6 REEP6 PPP2R5D DMPK YAP1 PLXND1 COX7B RLIM IDH3B CRYAA GATA1 ARVCF DACT1 WDPCP BEST1 TINF2 OPN1LW COL4A5 FLI1 PRPF31 UBIAD1 RPGRIP1L MERTK NFIX BAZ1B KLRC4 ROM1 FANCL TACSTD2 NGLY1 PRPF8 SLC25A4 POMGNT2 GPR143 IDS GATAD2B TRAPPC4 CLDN19 GBA PLOD1 DHDDS SALL4 AP3D1 BUB1B SPINT2 PNPLA1 EYS FANCI LOXL3 CHST14 RP2 RPGR PRPF4 PDE6B SCN9A LCA5 LARGE1 SLC35C1 MBD5 B3GALT6 FBXW11 OCRL SEC24C NRL PSMB8 GTF2I RSPO2 PIKFYVE BLOC1S3 LDLR GNAQ CLTCL1 PDGFB ARL2BP FRAS1 TFAP2A DOCK3 CYP1B1 TRIM37 DDR2 OSMR CLRN1 ARHGEF2 AIRE PEX13 SMC1A FUCA1 COL3A1 RAB18 NLRP1 MPLKIP MMP14 SALL1 NTNG1 TCF20 IL12A MIR184 COL1A2 RP9 HLCS SMARCAL1 LTBP2 ARL6 PEX3 COL5A1 FSCN2 XPR1 MAB21L1 PEX14 MEGF8 RAX ZFHX2 VSX2 SPATA7 TP63 TMEM216 MARK3 KIAA1549 GNPTAB ABCA12 CERKL PRDM5 LETM1 RBP4 ARL2 CRYGD WDR73 C1QBP IL6ST RETREG1 COLEC10 AP1B1 CREBBP CTCF SLC16A12 PTEN TTC8 POLR3A APOA1 STXBP1 DGCR2 CHRDL1 GJB3 RECQL4 GTF2E2 EXOSC2 FERMT1 OPN1MW GJA8 MAN2B1 XPA CDHR1 GJB4 GORAB ZEB1 SOX2 CTSA KERA MMP1 ZNF408 TRIP13 APOE HGSNAT LAMA3 H1-4 GRHL2 UBE2T NTRK1 PLK4 RAD21 ABCA4 KIF11 KMT2B RDH12 TYR REV3L KDM6A FGD1 CRYBA4 COL5A2 APOA2 FLII ARID1B MAPRE2 CNGB1 ELP1 RXYLT1 BUB1 TEK B2M FLNA IL10 PLCB3 SCAPER COL1A1 NSD2 RNU4ATAC RREB1 TBCE TANC2 KIZ TBCK RP1L1 HIRA FLNB PEX1 ASAH1 KDM5B KRT12 COL9A1 MAFB DSE PACS2 TULP1 RAD51C MMP2 PROM1 UROS IQSEC2 GHR IMPG2 RERE TBX22 CHD4 PDE6G BBS9 COL4A4 PEX12 SCARF2 PXDN APOB WNK1 PIGT PRPF3 PRCD EMC1 AGK TUB PEX19 RNF125 BBS1 BRIP1 JAG1 GALNS FKBP14 FIG4 APC2 SLC4A4 B9D2 KMT2A ZMPSTE24 PCSK9 PRPH2 TLR4 ARL3 GALNT2 IARS2 GUCA1B NMNAT1 BPTF PRSS56 BRCA2 COL4A3 KAT6A RHOA TRAPPC2 TMEM67 FAM161A MAP3K7 ADNP PRPF6 CSPP1 FGF3 BCORL1 GNAS HK1 RFWD3 FANCG FANCA PORCN VARS1 MTTP PLEC OFD1 COL9A2 EBF3 PLCG2 ARSG ARSB HP_MICROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCORNEA FKTN CTDP1 TBC1D20 SALL4 BCOR PAX6 FOXL2 NIPBL ERCC3 RNF113A ERCC6 POMK CRYAA TMEM216 HSPG2 PXDN CRYBB1 OTX2 NHS MAB21L2 KDM6A TMEM231 CRYBA4 COL4A1 MED25 RBP4 CHST14 RPGRIP1 PYCR1 FLII TUBB ARL2 MAPRE2 CRYGD HMX1 LARGE1 EBP ERCC2 RXYLT1 CEP55 JAG1 RAI1 B3GALT6 HMGB3 GJA1 CC2D2A HDAC8 MPLKIP TCTN2 FKBP14 GTF2E2 KRAS TBX15 ACTG1 ZEB2 BMP4 SC5D NAA10 FANCB CTCF SLC16A12 RSPO2 RAB23 ACTB MAF B9D2 KMT2A PITX3 ATOH7 ANK1 B3GLCT POMT1 GJA8 FOXE3 CRPPA B3GALNT2 TARS1 CENPF B9D1 RECQL4 TMEM107 GTF2H5 UBE3B TFAP2A BEST1 RAB3GAP1 WNT3 DEAF1 MAFB ERCC8 PRSS56 SMC1A CRYGC SETD5 WDPCP POMGNT1 FLI1 TMEM67 CHN1 MKS1 KMT2D RAB3GAP2 RPGRIP1L CSPP1 PLOD1 POMT2 FGF3 GORAB TENM3 RAB18 LMX1B DAG1 FKRP MIR184 IQSEC2 ADAMTS18 PLK4 PITX2 CEP290 TBL1XR1 POMGNT2 CRYBB2 RAD21 TBX22 B4GAT1 KIF11 SMC3 HP_ASTIGMATISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTIGMATISM KMT2B BBS9 TCF4 AP3D1 INTS1 TYR NIPBL ERCC3 RNF113A CHST6 CHD3 COL11A1 PIGT MAG BRCA1 CHMP1A FANCI EMC1 COL4A1 KMT2E USP9X FANCD2 LOXL3 MYT1L GNPTAB DPYD TUB ARID1B SLX4 TBC1D7 TRMT1 BBS1 ACTL6B ARCN1 C1QBP BRIP1 NEUROD2 MBD5 CLRN1 POGZ ANKRD11 SLC39A8 FANCB MT-TS2 FBXW11 PIGQ PIEZO2 P4HTM FLNA SVBP GTF2E2 CEP78 VSX1 KRAS MED13 APC2 ZEB2 DNAJC21 CCDC28B FANCM CACNA1F KCNV2 RNU4ATAC ACTL6A TBCE TANC2 CC2D2A PALB2 BLOC1S3 FIBP ERCC4 ERCC2 HARS1 STXBP1 COL9A3 TARS1 TEAD1 OVOL2 CHRDL1 FANCF DYRK1A MAN2B1 GTF2H5 SLC25A24 PPP2R5D KDM5B DMPK DOCK3 TRIM37 DDX6 RLIM COL9A1 GALNT2 DSE AEBP1 BPTF ARHGEF2 XRCC2 ZMIZ1 BRCA2 GPR143 LMX1B KAT6A SETD5 AGBL5 PACS2 GLRB RHOA NSD1 FANCC RAD51C MAP3K7 ADNP PSMD12 PITX2 ZEB1 NFIX BCORL1 MPLKIP COL8A2 SETD2 MBTPS2 FANCL PRMT7 NTNG1 TCF20 FANCE MIR184 HK1 H1-4 GRHL2 WAC UBE2T RFWD3 COL1A2 FANCG SMARCAL1 FANCA ARL6 MAD2L2 VARS1 KIDINS220 CHST14 RERE CLDN16 COL9A2 WDFY3 RAD51 PPP1R12A EBF3 PCYT1A YY1 KIF11 GATAD2B ARSG CHD4 TRAPPC4 CLDN19 UBE3B HP_MEGALOCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOCORNEA KCNMA1 BAZ1B CLIP2 LIMK1 FKTN KIFBP ELN PPP2CA TBL2 FKRP GTF2IRD1 GTF2I POMT1 GNPTAB PIK3R1 COL11A1 NSD2 POMT2 POMGNT1 NELFA FGD1 LETM1 MAF LTBP2 TINF2 RFC2 PITX2 CHRDL1 FGFR2 PRDM5 POMK MT-CYB FBN1 LARGE1 TEK GMPPB CDH11 HP_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOPATHY NOD2 MLX SURF1 MFSD8 CDH3 ERCC4 TNFRSF11B C1QTNF5 PEX7 STAT3 TXN2 LETM1 AP5Z1 CSPP1 HNF1A NDUFAF1 GNPTAB INS TERT KLF11 BAP1 ASXL1 IDS PAX4 FGFR1 ABCC8 CCR1 CTNS CDKN2B STAT4 ERCC2 NDUFAF3 GCK PDX1 TRIM32 MT-TK TMEM107 MT-TL1 HADHA IL23R TINF2 IL10 FAS MT-TE ACD NSD2 CEL HNF4A ABCC6 PRTN3 NEU1 IL12B ERCC3 KIF11 APOE MTTP TUBB HBB TULP1 CDK4 ERAP1 TLR4 TMEM231 MITF SAR1B HLA-DPA1 NELFA MCOLN1 NDUFB8 ERCC5 KCNJ11 INSR CDKN2A UBAC2 CREBBP PROS1 KRAS CTLA4 IDUA AGXT APPL1 HLA-B MEFV POT1 KLRC4 CEP41 IL12A MC1R MYO5A ENPP1 HLA-DPB1 NDUFS2 PTPN22 ALDH3A2 NEUROD1 TERF2IP MGMT PANK2 PHYH PLK4 IL12A-AS1 MT-ATP6 C4A KLHL7 MAPRE2 PTCH1 BLM COL11A1 BLK DPM1 SCO2 HP_DEEPLY_SET_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEPLY_SET_EYE ABL1 GRIA3 CACNA1G FBXO31 PUF60 GJA5 HHAT TCF4 NDP NALCN ERCC4 GORAB ERCC6 DHPS PRMT7 KIDINS220 SHANK3 AP1S2 ALMS1 PRPS1 FARSB SH3PXD2B EXTL3 CTBP1 MEIS2 DPYD FLII FIBP FBXO11 MAPK8IP3 CREBBP FARSA SRCAP DIS3L2 PPP2R5D RAI1 LEMD3 PAK1 GJA8 TBC1D20 PIEZO2 OCRL ZEB2 PIK3R1 SLC9A7 THOC6 TBCE TRRAP TBCK TAF1 SLC35A1 STAT3 AHDC1 GATAD2B GSC BPTF MEF2C DYRK1A ERCC2 KDM5C BCR CDKL5 BRCC3 PIK3CD SNRPN DEAF1 MAFB COX5A ATN1 MYH3 SMAD4 PRKDC DNM1L ALKBH8 PHF6 TCF20 SON STAG1 CNOT3 MED12L FBN1 CARS1 CDH2 SSR4 SKI HDAC8 KCNK4 TTI2 OPHN1 EEF1A2 MSL3 IQSEC2 SEPTIN9 STIM1 ERCC1 SATB2 ATAD3A COL3A1 ODC1 AGL CAMTA1 DLK1 LARP7 FMR1 NOVA2 TBX15 IGF1R SIN3A NFIX KIF7 EMC1 HDAC4 TMEM94 CRPPA GPKOW SMC1A HMGA2 POLR3A SETD1A HYLS1 UBE2A NF1 PUS7 JAG1 CRKL UGDH SYNGAP1 LAS1L PSMD12 POU1F1 HECW2 COA3 ZC4H2 WAC CTCF MEG3 MAPK1 KCNAB2 PRDM16 PIK3CA RTL1 UBE3A ZBTB20 ORAI1 RERE SALL4 TMEM67 TAZ CEP57 CENPF WASF1 CRB1 PLEC EXOSC2 RAB3GAP1 PIGY PLP1 IARS2 TMEM237 XRCC4 HUWE1 HACE1 EP300 ERCC8 OSGEP KAT6A SLC9A6 TPRKB RARS2 COX8A GJA1 CHN1 RALGAPA1 SRC GATA4 GABRD SPOP NTRK1 HS6ST2 KMT2E TBL1XR1 PIGU KNSTRN DCPS EBF3 PYCR1 NGF ARNT2 POC1A HP_KERATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATITIS NOD2 GTF2H5 ERAP1 LBR TLR4 ERCC3 ZEB1 PAX6 RNF113A ERCC6 IARS2 TP63 DDB2 ERCC2 NIPAL4 CRLF1 AEBP1 SREBF1 PNPLA1 ERCC8 GATA1 ABCA12 TGM1 WIPF1 BTNL2 WAS XPC UBAC2 SCN9A GJB2 SLC35C1 CCR1 COL4A5 XPA RNF125 FOXE3 GJB6 STAT4 B2M ERCC5 IKBKG MEFV HLA-B IL6ST NLRP3 NLRP1 MPLKIP KLRC4 GTF2E2 IL23R UROS MBTPS2 ALOXE3 AIRE IL10 HLA-DRB1 FAS IL12A FGFR2 CERS3 GSN NTRK1 HLCS ERCC4 IL12A-AS1 MTTP C4A ALOX12B PLEC POLH CLTCL1 TARS1 MAB21L1 COL4A6 HP_ABNORMAL_EYELID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_MORPHOLOGY WDR35 CLIP2 NFIX PDHX UNC80 CDH11 SOX4 YY1 FOXL2 SF3B4 QRICH1 SUZ12 SHANK3 ABCC9 BRCA1 ZIC1 SLC1A2 SCN4A TUBB PEX6 PREPL KANSL1 SOX10 TRPS1 MAGEL2 MAN1B1 PIK3R2 ARL3 RAC1 SNRPN SLC29A3 ARHGEF6 ARID1A NSD2 DHCR7 ABAT PIK3R1 ASXL1 GSN KIF21A NSUN2 ACTL6A RNU4ATAC WDR37 FIBP KCNH1 SNAI2 FGF10 PALB2 PDE4D BRF1 DHODH DGCR8 GABRA2 MAP11 GPC3 PEX5 G6PC DEAF1 EGFR PEX26 PIK3CA XRCC2 SOS1 GP1BB ADNP LMX1B NELFA KCNE5 DYNC2I2 PYCR2 BRAF SATB2 NBN TRAF7 GRIA3 MBTPS2 CERS3 PTPN11 CKAP2L COL18A1 GJB6 COG7 POLR1B RDH11 GMNN ATAD3A ADAM17 ODC1 NPAP1 HPDL RAD51 YWHAG DVL3 SMC3 KIF7 DKC1 SNORD116-1 SEMA5A DPH1 ATRX CENPT IGF1R AIP MAF HSPG2 YWHAE SIN3A TTC37 TMEM216 KMT2E FANCD2 KCNB1 RLIM TUBB3 RHOBTB2 DLX4 MKRN3 WNT7A ANAPC1 GJB2 CLCN4 FDFT1 TUBGCP6 ALX3 ASPH CRKL LSS BUB3 EIF2AK3 FLCN COA3 RPL10 TWIST2 RAB23 PEX2 RIT1 CNKSR2 MPC1 DONSON ZBTB20 C12orf57 B3GLCT PPP1CB EHMT1 EFNB1 RBPJ NONO IL1RAPL1 GTF2H5 UBE3B RBM10 AKT3 NIPAL4 OCA2 IFT172 HDAC8 PHF8 LPAR6 NSD1 TAF1 KCNJ2 FRMPD4 TBX1 GJA1 CHN1 KMT2D ATP6V1E1 PSMD12 TP63 PPP1R17 TENM3 ZEB2 SLC19A3 NECTIN1 NPHP1 TAF13 GABRA5 IFT80 PRMT7 NOP10 ANTXR1 HNRNPK NRAS DCHS1 RPL5 TBCK ERCC4 HCCS MECP2 MAD2L2 ANKH FTSJ1 ALOX12B HCFC1 CD79A WDFY3 PTCH1 PPP1R12A FRAS1 RERE TMCO1 SDR9C7 KCNMA1 KIT FLNA CACNA1G PGAP3 COLEC10 PQBP1 CDH1 NTRK2 SMCHD1 LIPH ZNF469 RRAS2 DOCK7 PIGV PRRX1 CD96 MAFB PAX3 UFD1 B9D2 PHOX2B AMMECR1 XYLT1 TRMT1 FBXO11 SMC1A DIS3L2 ANKRD11 TBC1D24 ITGB4 SETD1B ZNF462 HIBCH MED13 GTF2IRD1 SZT2 ESS2 BMP1 ESCO2 SEC24D TRIP12 ANK1 ITGA3 PDE6D FRG1 LIG4 ZBTB18 AHDC1 SEMA3E MAP2K2 EZH2 BCR ADAR KIF1A ATR PIK3CD DENND5A MRAS LRP2 ZMIZ1 GATA1 TGM1 KDM6B LRP4 HCN1 CDK19 FOXP1 CNOT1 SLC39A4 CDH2 EPHX2 FOXE3 CAMK2A SHOC2 SETD2 CDK13 ADAT3 TRIO DHX30 CHST3 FGF3 PURA KRT83 FGFR3 GRIP1 PDGFRB TRAIP JMJD1C POLH CBL TLK2 IKZF1 UQCC2 EDARADD RPL27 ETFA PPP2CA ADAMTS3 CNOT2 CD28 ERCC3 PITX2 IFT43 MAB21L2 KRAS QARS1 WAS TBCD NSDHL GREB1L NR2F1 RPL26 USB1 NDN ACTG1 ST14 ANKLE2 NIPBL HERC1 SON CANT1 CCBE1 PIEZO2 PIGY RPS7 TFAP2A RAI1 KIF11 MVK ALG13 CIT KRT86 TINF2 PCGF2 MYH3 TAF6 COX7B MED13L KDM1A MFSD2A COL11A1 ALDH6A1 ERCC2 RNASEH2A PTCHD1 CHD7 DACT1 TCOF1 FLI1 CYFIP2 HDAC4 TOR1A AFF4 STAC3 HRAS PIGO EP300 FANCL PHF6 HS6ST2 EBP CDK5RAP2 HNRNPU FGFR2 THOC6 GNE ITGA6 PIGU RIN2 KLHL7 PCLO CSNK2A1 P4HB GATAD2B PSAT1 UMPS TBL1XR1 ARV1 PIGW SALL4 SMPD4 VEGFC COL5A2 ARX KIAA1109 PNPLA1 GABRG2 SLX4 TSR2 IGBP1 TRMT10A TENT5A KMT2A CHST14 HNRNPH2 MLXIPL COPB2 ALX4 CPLX1 OCRL MEG3 DLG3 ATP6V1A RPS19 SCN8A ASCL1 SLC6A17 SLC17A5 CLTCL1 CHD1 IRF6 TELO2 SRCAP AUTS2 FREM1 FGF20 SNX14 DDR2 ALX1 CEP55 ARHGEF2 RIPK4 DYNC1I2 DYNC2H1 PPP1R15B FBN1 FRMD4A ATP6V1B2 DYNC2LI1 DHCR24 PWAR1 CASK C2CD3 WASHC5 SPECC1L GJC2 SCN3A UBE2A ADAMTSL2 ERCC1 KRT25 CTC1 RNASEH2C PEX3 COL5A1 IFT52 RPS28 CERT1 CAMTA1 MAB21L1 IFIH1 ZIC2 SMARCA4 LARP7 CHRNG RECQL4 DNMT3B PCNT POLR1C SLC3A1 GNPTAB DPF2 ABCA12 PMM2 FAT4 SPRED1 DSG4 LETM1 RMRP POLR3A SETD1A ASPM GPC4 BLNK FOXC2 MPLKIP TRIM32 AGTR2 PEX7 HOXB1 PIEZO1 DDX11 PGM3 CTCF PTEN AP1S1 BCL11A LONP1 IFT57 TFAP2B DGCR2 AHI1 SRY ABCA1 SYNJ1 HSD17B4 ZNF41 COL1A2 KAT6A FGD1 CDC42 POLR1A PAFAH1B1 EDAR OSGEP SOX9 SLC9A7 KMT2C UBA5 XPA MED12 KCNA2 MTOR PIK3C2A RPL21 PBX1 LMNA H1-4 UBE2T CCNQ PHF21A ACTL6B UGP2 EXOSC9 FGFR1 PACS1 RAB18 HR SLC37A4 APC GLI3 CTNND2 WDPCP SNRPE TNNI2 REV3L ACSL4 ATP6V0A2 KDM6A RASA2 COG6 EPS8L3 ATRIP APOA2 FLII ARID1B LRRC8A MID1 VPS33A RAF1 ZNHIT3 NALCN TERT FANCB B4GALT7 NOTCH3 MEGF8 BMPR1A RPS6KA3 BBS10 COL1A1 RREB1 TANC2 CPLANE1 CCDC22 CD79B RPL35 SETD5 CYP27A1 RPL31 HIRA PLEC ZNF148 GATA2 PEX1 KDM5C PHGDH BCL11B CLTC NRXN1 LIFR FANCI DSE COX5A PPP2R1A ATN1 CAMKMT GBA PACS2 CLP1 SNAP29 FOXG1 COG1 USP9X SLC2A10 TUBGCP2 GLE1 SUFU BRAT1 BMP2 DVL1 ABHD5 POLA1 GAD1 PTH1R UROS BBS7 MSMO1 IQSEC2 TBX2 GHR OFD1 ACOX1 MASP1 COL3A1 CLDN1 DLK1 CHD4 TAPT1 KRT85 CEP152 TBX15 CEP63 SCARF2 PTPN22 PIGT FGF12 NBAS EDNRB NXN GPC1 PEX19 VPS35L SYP NF1 BRIP1 EFEMP2 JAG1 MID2 KIF14 DALRD3 EFTUD2 BGN LIPN SOX11 ZNF711 LMBRD1 PPP3CA MKKS SVBP WAC APCDD1 FBXL4 MITF BBS4 ZMPSTE24 SLC25A24 EXT2 PCSK9 CEP57 BANF1 DYNC2I1 KRT81 BBS12 CHD8 TMEM237 HUWE1 CTBP1 TSPAN7 DOK7 BRCA2 PWRN1 MKS1 RPS26 LRP1 WWOX DOLK TUBGCP4 ELN USP27X PLOD1 BCORL1 SYT1 SLC39A13 LZTR1 RFWD3 RTTN KCTD1 SMO RPS27 MAPRE2 ZC4H2 YARS2 HIC1 PUF60 TRAK1 CHD3 WNT5A IFT122 DMD MAP3K7 RB1 CCDC115 GDI1 TCF3 DPYD XPC DDB2 RTEL1 IFT27 CXorf56 PSPH PLCD1 CREBBP ZBTB24 FAM20C ALOXE3 RIC1 SPART CENPJ FANCM ADA2 PPM1B KCNJ8 KIAA0586 ALG3 KRT74 POU3F3 BPTF CYP4F22 TBL2 TBR1 RBMX CHAMP1 CHRNA1 UPF3B CTLA4 TXNL4A DYNC1H1 MUSK RUSC2 TCF4 HERC2 MYOD1 NHP2 GPC6 KCNK4 ACTB ORC1 VAC14 LIMK1 SIM1 EDNRA MSL3 SMARCA2 ADAMTS18 PLK4 CACNA1A SMS SOX18 CENPE RPS15A BLM TNFRSF1B PYCR1 CCND2 PKP1 KIFBP NOVA2 MN1 PUS1 NCAPG2 PGAP2 WIPF1 PIGA CARD14 COMT GPKOW SNORD115-1 MADD RPL11 EDN3 KLF13 MED25 CTDP1 AARS1 NAA10 GLIS3 SHROOM4 TMEM107 UGDH GRIN2D WDR19 PIGL HECW2 SMARCD1 PEX10 BBS9 RPS10 MAP2K1 AKT1 ZSWIM6 NUS1 DSP NDUFB11 FREM2 DOCK3 FHL1 FANCC IGLL1 RRAS HLA-B KAT6B GATA4 STAG1 SPOP AMACR MRPL12 STRA6 SC5D MC1R SMARCC2 CWC27 TTC8 KNSTRN TRAPPC9 FGF5 SEC31A PEX11B RNF113A DGCR6 LTBP3 SIX2 NECTIN4 MYT1L VPS53 MAPK1 GDNF AMER1 NANS GABRB2 KAT8 BBS1 FOXC1 SOX6 NUP188 FAM149B1 ETFB DNAJC21 STXBP1 TRRAP COL11A2 RPL15 RFC2 TRAF3IP2 AFF2 PRKAR1A ORC6 KNL1 ALDOA ALG14 DDX6 SASS6 KIAA0753 KITLG ALG9 ERCC6 SMARCE1 MEF2C CNOT3 POLR1D RET MCTP2 EEF1A2 FANCE SMAD4 KCNN3 NEK1 CTU2 CDCA7 STAG2 LPL PHIP WDR62 INTS1 RSPRY1 SREBF1 ZNF81 TWIST1 CUL4B ALDH1A3 PUS7 HBB PIGQ ERCC5 STIL MYMK ARID2 RTL1 EDA TOE1 METTL5 TREX1 CHRNA7 MOGS CDK10 RPL35A PRDM16 SOX5 SLC45A1 PEX16 DNMT3A TARS1 FANCF PPP2R5D WNT10A SLC13A5 PLXND1 CST6 ARVCF SLC16A2 CSPP1 BAZ1B SDCCAG8 MYCN SH3PXD2B TCTN3 PAH TRAPPC4 VAMP1 DPM1 DHDDS RNASEH2B HHAT RAC3 BUB1B ATP7A BCOR SAMHD1 MEIS2 FLT4 SKI CHRND CTNND1 SLC35C1 NECAP1 FBXW11 RBBP8 SEC24C ADAMTS2 ITGA8 GTPBP2 GTF2I FBLN5 HBA2 LDLR PTCH2 RPS23 SOS2 MIR140 OTUD6B BMPER IGHM NGLY1 PEX13 INPP5E HELLS CDH3 C8orf37 XRCC4 CNTNAP2 MCPH1 LDHD SALL1 NTNG1 TCF20 SEPTIN9 NFIB NOTCH2 FZD2 CRIPT PEX14 RAB11B RAX TYRP1 PIGB CNTNAP1 TERC GPRASP2 PAK3 ASXL3 PHC1 COG8 EED WDR73 KPTN ETFDH PKDCC ERMARD BBIP1 B3GAT3 AMPD2 KANK2 ABCA5 COLEC11 KCNAB2 HBA1 APOE CAMK2G NPM1 EXOSC2 MAN2B1 KREMEN1 FERMT1 RPS24 TSPEAR UBE3A RPL18 TGFB3 C12orf4 GABRD TRIP13 DUX4 TGFB2 RAPSN ADARB1 HOXC13 AP4E1 PARS2 RYR1 DNM1 RAD21 SMARCB1 CSGALNACT1 RNF135 MGAT2 SULT2B1 LZTFL1 SPINK5 DOCK6 SLC26A2 KIF15 MAPK8IP3 BUB1 KCNK9 GTF2E2 TBX6 VPS13B VPS51 GSC PIGN KDM5B RAB3GAP2 A2ML1 NARS1 GPR101 TTPA MED12L RAD51C SYNGAP1 SMOC1 DSC3 FLNB ROR2 WRAP53 TBX22 MAP1B CEP135 DMXL2 ARL6 PEX12 NCAPD3 APOB PNPLA6 RPS17 CCNK RNF125 DDHD2 EXOC8 CEP290 ERF BRPF1 FIG4 CDK6 APC2 SLC6A9 AP3B1 BBS5 AP3B2 PARN SETBP1 CCDC88A WDR4 WASF1 GALNT2 SH3BP2 SNRPB RAB39B MPDZ FAS RHOA TPRKB FGFRL1 DYRK1A CACNA1B RPS29 TBX4 TASP1 DHX16 HK1 MLPH FANCG FANCA VARS1 EBF3 BBS2 HP_ABNORMAL_FOVEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOVEAL_MORPHOLOGY RHO PAX6 PDE6H TYR ATF6 RPGR HMCN1 RDH5 RAB28 GDF6 OCA2 CNGB3 MFRP CACNA1F RBP4 HPS4 IDS HPS5 CFHR3 CTNNA1 WT1 SLC45A2 PRPH2 SLC24A5 IKBKG PDE6C CFHR1 NEU1 RLBP1 PROM1 APOE GDF3 MC1R GNAT2 ABCA4 ELOVL4 BLOC1S3 C8orf37 UGP2 GPR143 HPS6 CNGA3 SLC38A8 HP_DOWNSLANTED_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNSLANTED_PALPEBRAL_FISSURES KDM1A ARV1 NFIX UNC80 TRAK1 CDH11 BUB1B NALCN YY1 SMPD4 ATP7A WNT5A TBX1 SF3B4 SUZ12 GABRG2 DMD CCDC115 ZIC1 GDI1 SLC1A2 IGBP1 TRMT10A CEP152 SKI CHST14 CCDC22 MTOR IFT27 CREBBP OFD1 PPP2R5D NECAP1 FBXW11 MAN1B1 RBBP8 PYCR2 FAM20C SEC24C ADAMTS2 NSD1 ARHGEF6 ATP6V1A SPART RPS19 CENPJ SCN8A ABAT DSE HBA2 ACTL6A TAF1 FGFR2 ASCL1 FIBP EP300 CHD1 BPTF SOS2 FGF10 DHODH OTUD6B TBR1 GABRA2 DOCK3 GPC3 PIK3CA ARHGEF2 SOS1 GP1BB SPECC1L UPF3B ADNP SETD5 NELFA DYNC1H1 PPP1R15B MAP3K7 KCNE5 MYOD1 IQSEC2 ATP6V1B2 FBN1 DYNC2LI1 BRAF DHCR24 HRAS SATB2 C8orf37 WASHC5 LDHD MSL3 NTNG1 TCF20 SCN3A SMARCA2 KCNA2 CBL CKAP2L NFIB PURA PLK4 CACNA1A POLR1B GMNN HUWE1 ODC1 NOTCH2 PEX3 MRAS DHCR7 CENPE FZD2 RPS28 LRP4 YWHAG KIF7 SEMA5A CHRNG DPH1 KIFBP PAX3 CENPT NOVA2 MN1 RECQL4 POLR1C MAF MAP2K1 SIN3A TTC37 PAK3 LETM1 SPRED1 KMT2E COMT ASXL3 KCNB1 RLIM SMC1A POLR3A FLNA SETD1A EED MECP2 CLCN4 KPTN GPC4 ASPH MED25 TSR2 AARS1 NAA10 BUB3 GRIN2D TRIM32 PKDCC FLCN BBIP1 B3GAT3 PSMD12 AMPD2 AGTR2 ABCA5 SC5D KCNN3 PTEN RIT1 BBS9 COLEC11 ACTB KCNH1 CNKSR2 BCL11A HBA1 KRAS SZT2 ZBTB20 C12orf57 TFAP2B EFNB1 AKT1 NONO SYNJ1 SETD2 NUS1 AMMECR1 ZNF41 FGD1 CDC42 IFT172 PAFAH1B1 SLC25A24 BMP2 OSGEP TSPEAR KAT6B RDH11 FGFR3 SLC9A7 FHL1 DVL1 NOTCH3 FRMPD4 UBA5 UBE3A RRAS CXorf56 ZSWIM6 TGFB3 SLC19A3 NECTIN1 NPHP1 GATA4 NF1 SLC39A13 BCORL1 CAMTA1 GABRA5 TRIP13 COG1 TGFB2 SEC24D NRAS RAPSN WAC AP4E1 ATP6V1E1 ATP6V0A2 ACTL6B CWC27 TTC8 FTSJ1 HCFC1 YWHAE DNM1 WDFY3 PTCH1 PYCR1 KIF11 CSGALNACT1 FGFR1 PACS1 SPOP RNF135 KCNMA1 COLEC10 APC RPS6KA3 GLI3 CTNND2 WDPCP MGAT2 NTRK2 LZTFL1 TNNI2 ACSL4 RRAS2 SH3PXD2B RASA2 PRRX1 MYMK ATRIP USP9X MYH3 MYT1L UFD1 ARID1B STAC3 MAPRE2 PHOX2B MAPK1 KIF15 GDNF ATR TRMT1 FBXO11 RAF1 GABRB2 RAI1 BUB1 BBS1 SETD1B ZNF462 MED13 BMPR1A ZEB2 DNAJC21 BBS10 NSD2 VPS13B RREB1 STXBP1 ZMPSTE24 TANC2 ESCO2 COL11A2 HNRNPK HIRA AHDC1 POLR1A ZNF148 SEMA3E GSC DLG3 MAP2K2 EZH2 ORC6 CLTC KDM5B RAB3GAP2 DDX6 A2ML1 PPP2R1A LRP2 ZMIZ1 MED12 PACS2 CHD7 HCN1 CDK19 SON FOXP1 POLR1D SNAP29 PTPN11 FOXG1 MED12L SYNGAP1 CDH2 DVL3 RNU4ATAC GLE1 CAMK2A SMOC1 GAD1 EEF1A2 BBS7 TRIO TMCO1 CHST3 FGF3 RIN2 ROR2 MASP1 PDGFRB TRAIP JMJD1C TUBB3 DMXL2 ARL6 ZNF81 FGF12 CUL4B LZTR1 NXN SLC2A10 PCNT VPS35L SYP PUS7 EFEMP2 CEP290 MID2 SLC29A3 DALRD3 ARID2 SVBP EFTUD2 EBP BGN BRPF1 ACTG1 MVK APC2 ZNF711 CHRNA7 PPP3CA MKKS GJA1 CDK10 BBS5 HERC1 AP3B2 FBXL4 SOX5 SLC45A1 BBS4 SETBP1 CEP57 RERE PPP1CB ALG13 BBS12 SLC13A5 CHD8 GALNT2 RET COL11A1 TMEM237 ALDH6A1 PTCHD1 LMNA ARVCF ATRX TSPAN7 RAB39B DOK7 MPDZ TCOF1 MKS1 FLI1 CYFIP2 AUTS2 WWOX CACNA1B USP27X ARX AFF4 TASP1 DPF2 EDN3 KMT2A HS6ST2 SDCCAG8 PARS2 TWIST2 IL1RAPL1 EBF3 P4HB UMPS TRAPPC4 DPM1 BBS2 DHDDS HP_RECURRENT_CORNEAL_EROSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CORNEAL_EROSIONS FGF10 FGFR3 ELP1 TGFBI FGFR2 UROS MBTPS2 CHST6 GJB2 CTNS KRT3 GATA1 MPV17 NTRK1 FOXC2 HP_BLEPHARITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHARITIS TP63 TINF2 NPM1 MBTPS2 PLXND1 CST6 ERCC3 ERCC2 EGFR SREBF1 TERC REV3L GATA1 SMC1A WIPF1 PIGN SETD5 WAS XPC DDB2 RTEL1 ADAM17 USB1 SLC39A4 PLCD1 XPA TBX4 TERT ERCC5 HDAC8 UROS MSMO1 NOP10 ST14 NIPBL GJB6 CTC1 ERCC4 KMT2A WRAP53 PARN TRAF3IP2 NHP2 RAD21 DKC1 APOE SMC3 PKP1 HP_ABNORMAL_EYELASH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELASH_MORPHOLOGY KDM6A KIT DSG4 PUF60 SOX4 RAC3 MGAT2 CDH1 SNRPE WNT5A SMCHD1 SF3B4 LIPH SHANK3 LTBP3 ARID2 LMNA SPINK5 NAA10 TENT5A KMT2A PAX3 EPS8L3 NECTIN4 RTEL1 HR ARID1B XYLT1 FGFR1 CTNND1 SLC35C1 VPS33A FBXO11 PLCD1 PREPL SNAI2 CREBBP SMC1A SOX10 TRPS1 RIPK4 SRCAP TERT HDAC8 KCNK9 B4GALT7 HSPG2 TWIST2 ARID1A GTPBP2 VPS13B BMP1 PPM1B RNU4ATAC KCNJ8 ZMPSTE24 TAF1 CLDN1 ITGA3 PLK4 FRG1 EP300 VPS51 GJB2 COL11A1 NECTIN1 KRT74 RPS23 KCNH1 SLC3A1 FRAS1 PHGDH SOX18 EDN3 OTUD6B EDAR DPH1 DENND5A EGFR MAN1B1 ALX1 COX5A ALX4 ARHGEF2 CAMKMT SMARCE1 NXN SETD5 CLP1 RUSC2 FBN1 SMARCC2 SMARCA4 FRMD4A KMT2D NHP2 ATP6V1B2 CDH3 DVL3 KRAS CTCF KCNK4 SMARCB1 ORC1 APCDD1 VAC14 TP63 EDNRA SHOC2 DSC3 ANAPC1 MBTPS2 BRAF SMARCA2 DVL1 GJB6 AFF4 KCNN3 KRT83 KRT25 ROR2 MAF CTC1 BRCA1 COL3A1 WRAP53 ODC1 NOTCH2 DHCR7 FZD2 HPDL STAG2 BLM SMC3 DKC1 MAB21L1 MAP2K2 EDARADD PKP1 RECQL4 NOP10 PACS1 KRT85 DNMT3B CNOT2 TYRP1 NIPBL POLR1C DPF2 PTPN22 PUS1 TERC ABCC9 DOCK7 OCA2 MAB21L2 EDNRB PNPLA6 RMRP MITF POLR3A DLX4 RPL21 TUBGCP6 EXOC8 FOXC2 USB1 TSR2 CTDP1 SOX11 UROS MPLKIP LSS EDA EBP FIG4 MOGS KANK2 SLC6A9 GJA1 SMARCD1 CANT1 MAP2K1 PARN SLC25A24 ANTXR1 KIF11 BANF1 KRT81 KRT86 TINF2 NPM1 WNT10A TAF6 CST6 COX7B KREMEN1 NF1 DSP LPAR6 NDUFB11 MADD FAS TCOF1 LRP1 DOLK TUBGCP4 TBX4 STAG1 DUX4 MLPH MC1R HOXC13 POLR1D HCCS WDR35 VARS1 CWC27 YARS2 RAD21 PSAT1 FGF5 TMCO1 SPOP SEC31A HP_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLAUCOMA NOD2 RNASEH2B RHO CLIP2 LRP5 WFS1 BUB1B CRYAA TBX1 EYS NHS HLA-DRB1 BCOR TTC37 TSR2 GNAQ PAX6 SAMHD1 BTNL2 CEP152 CHST14 RP2 RPGR CCDC22 PRPF4 PDE6B VCAN LARGE1 ANKLE2 PEX6 SAG CYP1B1 B3GALT6 CDH11 MYOC TBC1D20 RBBP8 PEX2 OCRL HDAC8 FKTN SEC24C IFT140 NRL RPS19 CENPJ FBN1 GTF2I CBS PIK3R1 GSN ADA2 C8orf37 PTCH2 EP300 COL11A1 B3GALNT2 OVOL2 ARL2BP RP1 B3GLCT TBL2 LMX1B TIMP3 AHI1 PEX5 PEX26 MAG POMGNT1 CLRN1 GP1BB PEX13 SMC1A ACVR1 CREBBP MASP1 SKIV2L POMT2 NTF4 CRYBA2 LIMK1 ZNF513 PCARE POMT1 RP9 PLK4 LTBP2 ARL6 RNASEH2C PITX2 PEX3 DHCR7 CENPE FSCN2 RPS15A SMC3 MAB21L1 IFIH1 PEX14 PYCR1 TREX1 SBF2 RRM2B CISD2 FOXC1 POMK KIAA1549 PUS1 NEK2 NCAPG2 FOXE3 CERKL PRDM5 COL4A1 COMT IFT88 FUT8 RS1 FLNA RPL11 RGR GJA1 PTCH1 IMPDH1 GLIS3 BUB3 IFT172 B3GAT3 NLRP3 CRB1 DDX58 PEX10 DCN TTC8 RPS10 COL18A1 ANTXR1 CHRDL1 SRY AKT1 GJB3 RECQL4 IDUA ZSWIM6 CANT1 EXOSC2 USH2A RPS24 NDUFB11 RPE65 AGBL5 FREM2 ARHGEF18 RPS28 DAG1 CDHR1 RPL18 GJB4 ZEB1 ELN PIK3C2A CRYBB3 ZNF408 GMPPB TRIP13 ADAMTS17 HGSNAT FKRP GRHL2 RPL5 PRPS1 RBP3 CA4 HCCS RAD21 ABCA4 PEX11B SLC7A14 SNRNP200 TOPORS NDP MYMK ATRIP SEMA4A UFD1 IDH3A CNGB1 XYLT1 ATR RXYLT1 TRIM44 BUB1 WT1 TEK BBS2 VSX1 GTF2IRD1 SCAPER NAA10 RREB1 PTEN PDE6A RPL35 RPL15 RFC2 KIZ LOXL1 RP1L1 ATOH7 RPL31 HIRA TGFB1 MAFA CRPPA ADAMTSL1 PEX1 KLHL7 ADAR BEST1 LRAT ADAMTS10 DSE WASHC5 CRX ZMIZ1 GATA1 SETD5 RPL26 WDR36 SUFU BDNF PROM1 MFRP RNU4ATAC CCBE1 COL8A2 SIX6 CHST3 ZNF469 FGFR2 IMPG2 KDSR GZF1 MAF COL3A1 FAM50A TRAIP JMJD1C TKFC AHR MAK PDE6G RPL27 ADAMTS3 PEX12 PXDN PTPN22 OPTN SPATA7 PRPF3 PRCD AGK PEX19 RPS17 RDH12 NF1 PRSS56 BBS1 STUB1 COL2A1 PCNT TULP1 DHX38 EBP CCDC28B NIPBL RPL35A SLC4A4 RLBP1 CNGA1 NR2E3 ESCO2 RPS7 KMT2A PEX16 CEP57 ASB10 KIF11 TMEM98 CLN3 PRPH2 REEP6 YAP1 COX7B ARL3 RNASEH2A GUCA1B IDH3B ARVCF TUB FAS RHOA FAT4 RPS26 PRPF31 FAM161A TWIST1 PRPF6 MERTK RPS29 PLOD1 BAZ1B ROM1 SH3PXD2B PRPF8 SLC25A4 POMGNT2 RPS27 OFD1 YARS2 B4GAT1 ARSB DHDDS HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY TP63 GALNT3 ANO10 MANBA LBR ENG SAMD9 ATM ERCC3 ERCC4 RNF113A ERCC6 DDB2 CD19 SREBF1 SETX SMAD4 FGFR1 ICOS WIPF1 STX16 TNFRSF13C TCF3 BTNL2 WAS XPC GNAS BTD USB1 SCN9A CCR1 VPS33A RNF125 SEC23B NLRP3 ERCC2 PIK3CA BLNK SLCO1B3 STAT4 FGFR2 FOXC2 KRT1 B2M ERCC5 TKT UROS TFRC MPLKIP ACVRL1 GTF2E2 IL23R KRAS PSMB8 PSMB4 IL10 FAS GLA AP1B1 USF3 GSN PTEN PIEZO1 ERF KLLN CD79B LRBA AKT1 GNAQ FUCA1 TNFRSF1A GJB2 SDHC RAG1 TARS1 GDF2 IGHM MMP1 FERMT1 ASAH1 CR2 GTF2H5 ERAP1 TLR4 BTK IARS2 AEBP1 RNF168 ERCC8 MAPT GATA1 DACT1 KAT6A SLCO1B1 SDHD TNFRSF13B PKHD1 PLG SLC52A2 UBAC2 SLC39A4 MASP1 XPA IGLL1 COL7A1 PITX2 FOXE3 HLA-B ERCC1 SHMT2 KRT10 LRRC8A SDHB NOD2 MEFV CTSA NLRP1 KLRC4 DNASE1L3 PSMB9 MBTPS2 SALL1 AIRE HLA-DRB1 IL12A KRT14 PCNA PIK3R1 GJB6 RAG2 HLCS STX11 IL12A-AS1 MTTP IGSF3 C4A CD79A POLH DKC1 MAB21L1 IKZF1 PEX6 HP_ABNORMALITY_OF_VISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VISION RHO CLIP2 LRP5 JAK2 NODAL NFIX FKRP NDP MCOLN1 GNB1 CTNS GUCY2D AP4M1 RLBP1 RAB28 MT-CO3 SHANK3 BRCA1 PMS2 ATXN7 RD3 SLC1A2 C12orf4 SPATA5 PRPF4 ARHGEF18 GRIN1 PROKR2 BCL10 PHOX2A PEX6 TOMM40 KANSL1 SAG POGZ IL17RD STAT4 FGFR2 SLC45A2 TOP3A TOPORS IQSEC1 ARL3 MT-TK CTNNB1 SNRPN IL23R SEPSECS MT-TE ARID1A CBS GSN CTSD PEX10 ACTL6A WHRN CHN1 C8orf37 PIGP CNGA3 CEP85L MYO6 EYS MLH3 PCYT2 GABRA2 AHI1 PEX5 COX7B WASHC4 PEX26 ACTB RP1 SLC45A1 GALC XRCC2 RPGRIP1 ADNP BRSK2 AGBL5 MEN1 COL18A1 PSEN1 PYCR2 ERCC5 CHST6 RP2 SDHA RAX2 XYLT2 NDUFA1 SCAPER TMEM67 POLG2 MSX2 TRAF7 MT-ND4 PTCH1 DLL1 RNF13 FRMD7 HGSNAT HGD GRM7 MBTPS2 HLA-DRB1 PCARE NDUFS2 GJB6 CHRNE PDE6B TSEN34 C12orf65 NARS2 NOTCH3 PANK2 FGF12 ZNF408 SPTBN2 CARS2 HPDL BAP1 PITPNM3 RAD51 ZC3H14 YWHAG CLN6 PRPF6 STXBP1 TBC1D20 VAMP1 KIF1C MLX NDUFAF1 DIAPH1 NHLRC1 HSPG2 MVK BBS5 CACNA1A SEMA3A IFT172 CHMP1A COL4A1 KMT2E FANCD2 KCNB1 TUBB3 PDZD7 CDK8 FA2H TTLL5 POLG CLCN4 MT-TF FDFT1 TUBGCP6 MED25 SMCHD1 RGR IMPDH1 PDSS2 BUB3 TDGF1 PIGS ZNF365 MAN1B1 ABCD1 AP4S1 TWIST2 TNFRSF11A B4GAT1 EDC3 B3GLCT AP4B1 AIFM1 ESPN TAT GTF2H5 CABP4 ERAP1 TPP1 KIRREL3 NF2 XYLT1 COL7A1 IFT140 OCA2 PIEZO2 CEP120 SEMA4A RTN4IP1 ST3GAL3 ATXN3 FAM161A RDH11 NDUFB8 EEF1A2 GJA1 SCN3A ASNS PSMD12 STOX1 THSD1 SET GLI2 TENM3 MEFV FDXR GLRX5 HLA-B LIFR CLN8 GABRA5 FGFR1 OCRL ANTXR1 BRAF MYOC KRT3 SLC4A11 TBCK PRKN DDX3X CA4 ERCC4 HCCS MAD2L2 AMACR ANKH NRL KIDINS220 NAGA CACNA1F WDFY3 PPP1R12A CRB1 REEP6 PAX6 FRAS1 SELENOI RERE SLC12A3 SURF1 NTRK2 SNRNP200 HARS1 ZNF469 SUMF1 C1QTNF5 DOCK7 FGF17 PAX3 OPN1MW VPS35 NDUFS6 CLIP1 PYCR1 TCIRG1 POMK TRMT1 MBD5 FEZF1 ANKRD11 DLAT TBC1D24 FAN1 GRK1 MED13 CEP290 GTF2IRD1 SALL2 SZT2 COQ2 FBN1 KCNV2 AP4E1 HLA-A PALB2 DARS2 SLC25A46 AHDC1 ARL6 MT-TS2 PEX14 TGFBR3 OPA1 PDCD1 SYNJ1 INPP5E HPS1 DYRK1A PPP3CA KIF1A PNPLA6 LRAT NHS CACNA2D4 GNB3 ELOVL4 GNAQ TFG LRP2 PRKDC ZMIZ1 NLRP3 TSEN2 ACVRL1 HCN1 CDK19 PRPH2 IMPG1 POC1B OVOL2 SLC39A4 TSEN54 FOXE3 KCNA1 CDHR1 RFT1 CEP41 DRAM2 CFHR1 EPB41L1 CHST3 MYO5A NSMCE2 SNCA SATB2 LCAT IL12A-AS1 GRIP1 CRYBB1 POLH TTC8 NDUFV2 IKZF1 MT-ND1 PPP2CA ANO10 HK1 ERCC3 TRPM1 SLC25A1 RDH5 SLC24A1 SDHD PODXL CNGB1 FOXH1 KRAS SIX3 EIF2B4 ARNT2 ERCC2 NEUROD2 NR2F1 SHH SAMD12 VLDLR COL2A1 NDUFS1 CEP78 ATRX NDUFS8 SH3BP2 ST14 CACNA1G CRX SON CDON ABCC6 PEX3 NEU1 COPB2 ASB10 KIF11 RIMS1 COL9A3 PEX2 ASPA NDUFB9 DMPK PEX16 YAP1 PHGDH RLIM ADRA2B RPGR CA8 NDUFS7 CHD7 MAPT DACT1 CRYGC PRNP AIP FGF8 TCOF1 RP1L1 CYFIP2 IBA57 PLG PSAP MARCHF6 BEST1 HPS5 AFF4 PITX3 CYSLTR2 HRAS FARS2 APP CNGB3 CALR GNAT1 ROM1 FANCL TACSTD2 PEX13 KIF14 ALDH3A2 MT-ATP6 CA2 TGIF1 ARSA GRHL2 PIGU GPR143 BIRC3 PARK7 IDS SLC25A4 KIAA1549 ARV1 VPS13C SALL4 AP3D1 MMP19 CRYAA SMAD4 TP53RK FGFR3 GABRG2 MOG TMEM231 PROM1 TTPA FCSK VCAN TSEN15 SLC19A2 MLXIPL TCF12 LARGE1 PRPS1 CYP1B1 PINK1 MYO7A TP53 CDH23 PTPN22 PEX1 TYR TAOK1 CACNA1D CNGA1 SCN8A SETBP1 MYT1L MT-ND2 PIKFYVE MT-CO1 AGRN KIF3B BLOC1S3 TUBGCP4 ASH1L LSS CRADD COL11A1 CHRNA1 AIPL1 TELO2 CC2D2A SOX10 DDR2 MT-TC MAG SCN4A ARHGEF2 AIRE NDUFAF2 EIF2B2 ITPR1 MFSD8 TBX1 COL3A1 GPAA1 GUCA1A OAT TRIO NLRP1 NDUFAF3 IL12A CCDC47 MIR184 CTSH ENPP1 CIB2 ALMS1 NDUFA6 LRRK2 CERT1 DOCK8 COQ7 EDNRA CHRNB1 GBA FLT1 TRAF3IP2 MAB21L1 MTFMT SMARCA4 RPGRIP1L GMPPA SPATA7 FOXC1 POLR1C MARK3 PGK1 TUBB4B FXN PEX7 CLTC PRDM5 PDE6C COL13A1 KCNJ13 RS1 ARL2 SETD1A WNT10A CFAP410 C1QBP HIVEP2 FOXC2 MT-TQ TGFBI FZD4 MT-TW PIK3R2 GUCA1B TTR GPR179 SUFU ATF6 OPN1LW OPA3 NUBPL APOA1 BTD LMAN2L SRY ABCA1 NSMF HSD17B4 YIF1B ST3GAL5 GRIN2B APC KCNQ5 AAAS CAMK2A PCNA LRP4 KAT6A IDH3A CLN5 CDC42 GP1BB POLR1A OSGEP CLCN7 TRNT1 UBA5 RALGAPA1 XPA POMGNT1 TREM2 CTLA4 GORAB DOK7 CNKSR2 KCNA2 SOX2 B3GALNT2 GMPPB RBP3 TECR H1-4 NDNF UBE2T HPS3 ERCC6 PLK4 SDHB ACTL6B POMT2 EFEMP1 HESX1 ABCA4 PIGC ERCC8 FOXP1 PDE6G MFN2 REV3L TET2 RNU4ATAC THPO DNAJC13 ARID1B DPM1 TRIM44 CLRN1 CKAP2L GDF6 FANCB STAT6 GTPBP3 FLNA HADHA IL10 SRD5A3 ARMC9 GM2A TANC2 DISP1 CACNG2 RPE65 KIZ SETD5 MT-ND6 IGBP1 GJB2 HPS6 TULP1 KRT12 FANCI COL9A1 MT-TL1 PPP2R1A ATN1 NMNAT1 LMNB1 CLCNKB CLP1 SNAP29 BDNF TRAPPC12 POU3F4 TUBGCP2 BRAT1 SLC5A7 THOC2 MT-CO2 GDF3 MT-TH GNAT2 NDUFB3 CLEC7A LRMDA MSH2 PRPF8 CCDC141 MAP2K2 KCTD7 AK9 LCA5 COX6B1 ALG3 TERT RAC1 SF3B1 CLCC1 PIGT NBAS TGFBR2 TMEM98 MT-CYB EDNRB PRCD MPDU1 TUB PEX19 RRM2B HNMT NF1 BRIP1 NADK2 CNTN2 EMC1 ZFYVE26 DBH DALRD3 LRPAP1 MFF SCN1A EIF2B5 TNIK WAC VPS11 RGS9BP EZR MITF IMPG2 GDF2 CLN3 ZIC2 SLC52A2 UCHL1 IL17RA PLA2G6 ARHGDIA PMS1 BRCA2 SAR1B PRIMPOL TWIST1 SREBF1 NR2E3 WWOX ENG ELN GRIN2D PLOD1 BCORL1 HEXA OFD1 MAGEL2 DUSP6 GIGYF2 SPRY4 RPS20 ALPK1 SYT1 RFWD3 CUX1 SH2B3 CHAMP1 CFI PHYH MT-ND5 DLD PIK3CA ARSG ERCC1 TUBA3D GAS1 LRIT3 LYST DCPS NOD2 NDUFS4 ANOS1 PUF60 TRAK1 PDE6H MAPKAPK3 CHD3 CHRND RMRP NDUFV1 BTNL2 DPYD XPC DDB2 MMACHC USP45 PLCD1 CREBBP FKTN RIC1 PMPCB FANCM NDE1 KIAA0586 ERF NDN MSH6 SYT2 USH2A PDXK EPCAM FDX2 SFXN4 TBL2 TIMP3 RGS9 ADGRV1 OPN1SW TMEM237 UNC119 COL17A1 LAMP2 CHM UBAC2 COG4 SLC1A3 WDR81 LAMA1 TREX1 PSEN2 FBXO31 RAB3GAP2 LIMK1 SARS1 ZNF513 AKT1 CHAT FOXG1 POMT1 ALG11 CORIN DHX37 MALT1 ITGA2 PAX2 SNX10 C4A PCYT1A TNFSF11 SLC18A3 RAB11A MAK MED12L NSUN2 MUSK KDM5B PEX12 ABCA7 PCDH12 HLA-DQB1 EPRS1 DCC NEK2 NCAPG2 TRAPPC11 ELMO2 CEP250 SLC6A19 PIGA ITGB3 DTNBP1 ATIC ATP1A3 UFM1 SLC2A1 IFT88 PDE6A TNFSF4 CCR1 PCDH15 AARS1 CDH3 TRPM3 NYX TMEM216 HECW2 DNAJC6 PDHA1 PQBP1 WDR11 DCN PRTN3 MAP2K1 FLVCR1 CAPN5 TP63 IQCB1 SLC38A8 GRM6 TMEM240 NUS1 SLC25A24 RAB3GAP1 GABRB1 EXOSC8 NDUFB11 HLA-DPA1 SERPINI1 FANCC PITX2 RSRC1 BMP4 SLC24A5 CIC AIMP1 ITGB6 MC1R ATP8A2 SDCCAG8 CWC27 BMPR1A TRAPPC9 MORC2 KISS1R POLA1 NDUFA11 PEX11B DNM1L SLC7A14 RNF113A MBOAT7 TIMMDC1 HPS4 SLX4 GABRB2 NDST1 CACNA1B POLR2A GNAS MED23 BBS2 KCND3 VSX1 FAS CRBN CSNK2B NAA10 IKBKG PRPF3 TRRAP RFC2 WDR45B NRAS LAMB2 KLHL7 C19orf12 PGAP1 ADA2 ATP1A2 DDX6 HMCN1 TMEM138 GP1BA PDGFB ADAMTSL4 MT-ND4L PET100 STIM1 BOLA3 COL8A2 GATA2 METTL23 EIF4G1 FANCE NDUFS3 APOE MAF HS6ST1 AHR SYNGAP1 HSD3B7 SMO USH1G CYP4V2 EARS2 PROS1 CC2D1A HSD17B10 TEK MPL BCOR CASK OGT ITM2B PLEKHM1 SARDH PORCN PIGQ P4HTM DHX38 CAMK2B SVBP HTRA2 SOST FSCN2 PRDM16 RAPSN CEP57 CSF1R ARL2BP MLH1 TARS1 FANCF XRCC4 SLC13A5 PLXND1 CST6 IDH3B ZNF423 STAG2 NDUFAF4 TRAPPC2L FGF14 MERTK YEATS2 SLC39A14 PRPF31 NPHP4 CHP1 EPM2A CSPP1 BAZ1B MKS1 MYO9A KLRC4 WARS2 TIMM8A TMEM126A PROK2 GRN VHL LIM2 POLR1D PRRT2 CNNM4 ARX NFKB2 TRAPPC4 DHDDS BUB1B NPHP1 SUCLA2 SMARCE1 LONP1 TRAF3IP1 LOXL3 ZNHIT3 SCN9A BBS4 ZMYND11 NECAP1 FBXW11 ISCA2 USH1C GTPBP2 GTF2I CEP164 NDUFB10 FRRS1L MTR IL12B AFG3L2 ALG2 SEMA3E SMC1A SMARCB1 DEAF1 DOCK3 PHF6 SNAP25 SDHAF1 CDH1 WDR26 HIKESHI EIF2B3 MT-ND3 RAB18 P2RY11 CYP27A1 GRIK2 MPLKIP HCRT SALL1 MICOS13 NTNG1 TCF20 CDH15 TSPAN12 RP9 YME1L1 NOP56 RAB11B PIGB CNTNAP1 CERKL FOXRED1 COG5 RBP4 CACNA1E MTRR PDE4D SMG9 TMEM126B TWNK LAMC3 DYNC1H1 USP8 B3GAT3 AMPD2 PEPD LEMD3 ZEB2 AP1B1 OSTM1 KCNAB2 ANGPTL6 CFH ESR1 WDR19 AHSG LTBP2 CHRDL1 TK2 ZIC1 PIGY SOX3 CD109 INVS PPT1 FBN2 CDKL5 RCBTB1 SLC35A2 IL17F PUS3 TACR3 ZEB1 GABRD MMP1 FREM2 TRIP13 ADARB1 PARS2 KIF5A DNM1 TSFM SPG11 RDH12 EIF2B1 CTC1 MAPK8IP3 BUB1 HEXB SOBP GTF2E2 ACO2 PRSS12 RRAS2 VPS51 ITGA2B MTHFS SPTBN4 FIG4 EDN3 FMN2 PIGN ADAMTS10 MAFB PUM1 MIR204 MFRP RIMS2 DKK1 RAD51C ATP6V1A SKI MT-TV TUBB2B TUBB4A NDUFAF5 OTX2 GGCX ADAM9 TGFB1 TNF VAMP2 NPHP3 PRDX1 VPS13B MECR CFHR3 CTNND1 TUSC3 CLCN2 IL17RC AP3B1 AP3B2 ELOVL1 TXNL4A LINS1 WASF1 TLR4 FH CTNND2 BPTF RHOA WT1 MAP3K7 FLRT3 TASP1 DPP6 HLA-DPB1 NDUFAF8 GNA11 FANCG NAB2 SORL1 FANCA TANGO2 MTTP COL9A2 TCF4 RORA SCO2 HP_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_IMPAIRMENT RHO CLIP2 LRP5 JAK2 NODAL NFIX FKRP NDP MCOLN1 GNB1 GUCY2D AP4M1 RAB28 MT-CO3 SHANK3 BRCA1 PMS2 ATXN7 RD3 C12orf4 SPATA5 ARHGEF18 GRIN1 PROKR2 BCL10 PHOX2A PEX6 KANSL1 SAG POGZ IL17RD STAT4 FGFR2 SLC45A2 TOPORS IQSEC1 ARL3 MT-TK CTNNB1 IL23R SEPSECS MT-TE ARID1A CBS GSN CTSD PEX10 ACTL6A WHRN CHN1 C8orf37 PIGP CNGA3 CEP85L EYS MLH3 PCYT2 AHI1 PEX5 COX7B WASHC4 PEX26 ACTB RP1 SLC45A1 GALC XRCC2 RPGRIP1 ADNP BRSK2 AGBL5 MEN1 COL18A1 PYCR2 ERCC5 RP2 SDHA RAX2 XYLT2 NDUFA1 SCAPER TMEM67 POLG2 MSX2 TRAF7 MT-ND4 PTCH1 DLL1 RNF13 FRMD7 HGSNAT GRM7 HLA-DRB1 PCARE NDUFS2 PDE6B TSEN34 C12orf65 NARS2 NOTCH3 PANK2 FGF12 ZNF408 CARS2 HPDL BAP1 PITPNM3 RAD51 ZC3H14 CLN6 PRPF6 STXBP1 TBC1D20 KIF1C NDUFAF1 DIAPH1 NHLRC1 HSPG2 BBS5 SEMA3A CHMP1A COL4A1 KMT2E FANCD2 TUBB3 PDZD7 CDK8 FA2H TTLL5 POLG CLCN4 MT-TF FDFT1 TUBGCP6 MED25 SMCHD1 RGR IMPDH1 PDSS2 TDGF1 PIGS MAN1B1 ABCD1 AP4S1 TWIST2 TNFRSF11A B4GAT1 EDC3 B3GLCT AP4B1 AIFM1 ESPN TAT CABP4 ERAP1 TPP1 KIRREL3 NF2 XYLT1 COL7A1 IFT140 PIEZO2 CEP120 SEMA4A RTN4IP1 ST3GAL3 FAM161A RDH11 NDUFB8 EEF1A2 GJA1 SCN3A ASNS PSMD12 THSD1 SET GLI2 TENM3 MEFV FDXR GLRX5 HLA-B CLN8 FGFR1 OCRL ANTXR1 BRAF MYOC SLC4A11 TBCK DDX3X CA4 HCCS MAD2L2 AMACR ANKH NRL KIDINS220 NAGA CACNA1F WDFY3 PPP1R12A CRB1 REEP6 PAX6 FRAS1 SELENOI RERE SURF1 SNRNP200 HARS1 ZNF469 SUMF1 C1QTNF5 DOCK7 FGF17 OPN1MW NDUFS6 CLIP1 TCIRG1 POMK TRMT1 MBD5 FEZF1 ANKRD11 DLAT TBC1D24 FAN1 GRK1 MED13 CEP290 GTF2IRD1 SALL2 COQ2 FBN1 KCNV2 AP4E1 HLA-A PALB2 SLC25A46 AHDC1 ARL6 MT-TS2 PEX14 TGFBR3 OPA1 INPP5E HPS1 DYRK1A PPP3CA KIF1A PNPLA6 LRAT NHS CACNA2D4 ELOVL4 GNAQ TFG LRP2 PRKDC CACNA1A ZMIZ1 NLRP3 TSEN2 ACVRL1 PRPH2 IMPG1 POC1B SLC39A4 TSEN54 FOXE3 CDHR1 RFT1 CEP41 DRAM2 CFHR1 EPB41L1 CHST3 NSMCE2 LCAT IL12A-AS1 GRIP1 CRYBB1 TTC8 NDUFV2 IKZF1 MT-ND1 PPP2CA HK1 TRPM1 RDH5 SLC24A1 SDHD CNGB1 FOXH1 SIX3 EIF2B4 ARNT2 NEUROD2 NR2F1 SHH COL2A1 NDUFS1 CEP78 ATRX NDUFS8 SH3BP2 CRX SON CDON ABCC6 PEX3 NEU1 COPB2 ASB10 KIF11 RIMS1 COL9A3 PEX2 ASPA NDUFB9 DMPK PEX16 YAP1 PHGDH RLIM RPGR NDUFS7 CRYGC AIP FGF8 TCOF1 RP1L1 IBA57 PLG PSAP BEST1 HPS5 AFF4 PITX3 CYSLTR2 FARS2 CNGB3 GNAT1 ROM1 FANCL TACSTD2 PEX13 KIF14 MT-ATP6 CA2 TGIF1 ARSA GRHL2 PIGU GPR143 BIRC3 IDS SLC25A4 KIAA1549 SALL4 AP3D1 MMP19 CRYAA SMAD4 TP53RK FGFR3 TMEM231 PROM1 TTPA FCSK VCAN TSEN15 SLC19A2 MLXIPL TCF12 LARGE1 PRPS1 CYP1B1 MYO7A CDH23 PTPN22 PEX1 TYR TAOK1 CACNA1D CNGA1 SETBP1 MYT1L MT-ND2 MT-CO1 KIF3B BLOC1S3 TUBGCP4 ASH1L CRADD COL11A1 AIPL1 TELO2 CC2D2A DDR2 MT-TC MAG ARHGEF2 AIRE NDUFAF2 EIF2B2 ITPR1 MFSD8 TBX1 OCA2 COL3A1 GPAA1 GUCA1A OAT TRIO NDUFAF3 IL12A CCDC47 MIR184 ENPP1 CIB2 ALMS1 NDUFA6 CERT1 DOCK8 COQ7 MAB21L1 MTFMT SMARCA4 RPGRIP1L GMPPA SPATA7 FOXC1 POLR1C MARK3 PGK1 TUBB4B FXN PEX7 CLTC PRDM5 PDE6C KCNJ13 ARL2 SETD1A CFAP410 C1QBP HIVEP2 MT-TQ FZD4 MT-TW PIK3R2 GUCA1B TTR GPR179 SUFU ATF6 OPA3 ERCC4 NUBPL BTD LMAN2L SRY ABCA1 NSMF HSD17B4 YIF1B ST3GAL5 GRIN2B APC KCNQ5 AAAS CAMK2A KAT6A IDH3A CLN5 CDC42 GP1BB OSGEP CLCN7 TRNT1 RALGAPA1 POMGNT1 CTLA4 SOX2 B3GALNT2 GMPPB RBP3 TECR H1-4 NDNF UBE2T HPS3 ERCC6 PLK4 SDHB POMT2 EFEMP1 HESX1 ABCA4 PIGC ERCC8 FOXP1 PDE6G REV3L GNB3 RNU4ATAC THPO ARID1B TGFBI TRIM44 CLRN1 CKAP2L GDF6 FANCB GTPBP3 FLNA HADHA IL10 SRD5A3 ARMC9 GM2A TANC2 DISP1 CACNG2 RPE65 KIZ SETD5 MT-ND6 IGBP1 GJB2 HPS6 NTRK2 TULP1 SNRPN KRT12 FANCI COL9A1 MT-TL1 PPP2R1A ATN1 NMNAT1 LMNB1 CLP1 BDNF TRAPPC12 POU3F4 TUBGCP2 BRAT1 THOC2 MT-CO2 GDF3 MT-TH GNAT2 NDUFB3 GABRA2 MSH2 PRPF8 CCDC141 LCA5 COX6B1 TERT RAC1 SF3B1 CLCC1 PIGT NBAS TGFBR2 CHD7 TMEM98 MT-CYB PRCD TUB PEX19 RRM2B HNMT NF1 BRIP1 NADK2 EMC1 ZFYVE26 LRPAP1 MFF OPN1LW SCN1A EIF2B5 TNIK WAC VPS11 EZR IMPG2 GDF2 CLN3 ZIC2 SLC52A2 UCHL1 PLA2G6 ARHGDIA PMS1 BRCA2 SAR1B PRIMPOL TWIST1 SREBF1 ENG ELN GRIN2D PLOD1 BCORL1 HEXA DUSP6 SPRY4 RPS20 ALPK1 RFWD3 CUX1 CHAMP1 ERCC2 CFI PHYH MT-ND5 DLD PIK3CA ARSG ERCC1 TUBA3D GAS1 LRIT3 LYST DCPS NOD2 NDUFS4 ANOS1 PUF60 PDE6H MAPKAPK3 CHD3 RMRP KRAS NDUFV1 BTNL2 MMACHC USP45 CTNS CREBBP FKTN RIC1 PMPCB FANCM NDE1 KIAA0586 ERF MSH6 ALG3 USH2A PDXK EPCAM FDX2 SFXN4 TBL2 TIMP3 ADGRV1 TMEM237 LSS UNC119 COL17A1 LAMP2 CHM UBAC2 SLC1A3 LAMA1 TREX1 FBXO31 RAB3GAP2 LIMK1 SARS1 ZNF513 AKT1 FOXG1 POMT1 DHX37 TP53 MALT1 ITGA2 PAX2 SNX10 C4A PCYT1A TNFSF11 IFT172 RAB11A MAK MED12L NSUN2 KDM5B PEX12 PCDH12 EPRS1 DCC NEK2 NCAPG2 TRAPPC11 ELMO2 PIGA ITGB3 DTNBP1 ATIC ATP1A3 UFM1 IFT88 PDE6A CCR1 PCDH15 CDH3 TRPM3 NYX TMEM216 HLA-DQB1 HECW2 PDHA1 PQBP1 WDR11 DCN PRTN3 FLVCR1 CAPN5 IQCB1 SLC38A8 RAB3GAP1 GABRB1 EXOSC8 NUS1 NDUFB11 HLA-DPA1 FANCC PITX2 RSRC1 GJB6 BMP4 SLC24A5 CIC AIMP1 MC1R SDCCAG8 CWC27 BMPR1A KISS1R POLA1 NDUFA11 PEX11B DNM1L SLC7A14 MBOAT7 SYNJ1 TIMMDC1 HPS4 SLX4 ACTL6B NDST1 CACNA1B POLR2A GNAS MED23 BBS2 VSX1 FAS CRBN CSNK2B NAA10 IKBKG PRPF3 TRRAP RFC2 WDR45B LAMB2 KLHL7 C19orf12 PGAP1 ADA2 DDX6 HMCN1 TMEM138 GP1BA PDGFB ADAMTSL4 MT-ND4L PET100 ATP1A2 BOLA3 COL8A2 GATA2 METTL23 FANCE NDUFS3 APOE MAF HS6ST1 AHR SYNGAP1 SMO USH1G CYP4V2 EARS2 PROS1 CC2D1A HSD17B10 TEK MPL BCOR CASK OGT ITM2B PLEKHM1 SARDH PORCN PIGQ P4HTM DHX38 CAMK2B SVBP SOST RLBP1 FSCN2 NR2E3 PRDM16 CSF1R ARL2BP MLH1 FANCF XRCC4 PLXND1 IDH3B ZNF423 STAG2 NDUFAF4 TRAPPC2L MERTK SOX10 SLC39A14 PRPF31 TRAPPC9 NPHP4 SYT1 CHP1 EPM2A CSPP1 BAZ1B MKS1 KLRC4 WARS2 TIMM8A TMEM126A PROK2 GRN VHL LIM2 MFN2 POLR1D PRRT2 ARX TRAPPC4 DHDDS DPM1 NPHP1 SUCLA2 SMARCE1 LONP1 TRAF3IP1 LOXL3 PRPF4 ZNHIT3 ZMYND11 FBXW11 CNNM4 ISCA2 USH1C GTPBP2 GTF2I CEP164 NDUFB10 FRRS1L MTR AFG3L2 ALG2 SMC1A SMARCB1 OVOL2 DEAF1 DOCK3 PHF6 SDHAF1 OPN1SW WDR26 HIKESHI EIF2B3 MT-ND3 RAB18 GRIK2 MICOS13 NTNG1 TCF20 CDH15 TSPAN12 RP9 YME1L1 PRNP RAB11B RGS9 PIGB CHST6 CNTNAP1 CERKL FOXRED1 COG5 RBP4 CACNA1E MTRR PDE4D SMG9 TMEM126B TWNK LAMC3 DYNC1H1 USP8 GABRB2 B3GAT3 AMPD2 PEPD LEMD3 ZEB2 OSTM1 RS1 KCNAB2 ANGPTL6 CFH WDR19 CHRDL1 TK2 ZIC1 PIGY SOX3 CD109 INVS PPT1 FBN2 CDKL5 SLC25A1 RCBTB1 SLC35A2 PUS3 TACR3 ZEB1 GABRD MMP1 FREM2 ADARB1 PARS2 KIF5A TSFM SPG11 RDH12 EIF2B1 CTC1 MAPK8IP3 HEXB SOBP ACO2 PRSS12 RRAS2 VPS51 ITGA2B MTHFS SPTBN4 FIG4 FMN2 PIGN ADAMTS10 MAFB MIR204 LTBP2 MFRP RIMS2 SCN8A RAD51C SKI MT-TV TUBB2B TUBB4A NDUFAF5 GRM6 OTX2 ADAM9 KCTD7 VAMP2 NPHP3 PRDX1 VPS13B RGS9BP MECR CFHR3 TUSC3 CLCN2 AP3B1 ELOVL1 LINS1 WASF1 TLR4 FH BPTF RHOA WT1 MAP3K7 FLRT3 TASP1 DPP6 HLA-DPB1 NDUFAF8 GNA11 FANCG FANCA TANGO2 MTTP OFD1 COL9A2 TCF4 RORA SCO2 HP_TELECANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELECANTHUS ETFA IFT43 KIFBP FLNA NFIX COLEC10 TAPT1 HHAT CDH11 TBX1 FGFR2 FOXL2 PAX3 C2CD3 PITX2 IFT122 GPRASP2 DOCK7 MAP3K7 EDNRB TWIST2 MAFB KMT2A USP9X COMT SKI CHST14 SLC26A2 UFD1 MID1 VPS33A RNF125 ANKLE2 PIK3R1 CREBBP DDHD2 OFD1 KAT8 SRCAP LIG4 PIGQ ERF ETFDH PIK3R2 PTCH1 FOXC1 SEC24C ARL3 EFTUD2 B4GALT7 KRAS ATRX ACTG1 ETFB ZEB2 HECW2 ALX4 GJA1 MAP2K2 CDK10 DSE PQBP1 KCNN3 RREB1 NSUN2 RAB23 ZMPSTE24 ACTB SOX10 KCNH1 PURA MITF NRAS TFAP2A HIRA SNAI2 PTCH2 ZNF148 STXBP1 RPS6KA3 GLI3 EFNB1 ADAT3 FGF10 ZSWIM6 UBE3B DVL3 EDN3 NRXN1 SNX14 AKT3 KITLG HDAC8 ALG9 MYH3 GP1BB LMNA ARVCF LMX1B CCNQ COLEC11 KDM6B MUSK MYOD1 FGFR1 ATP6V1B2 CDH2 STAC3 HRAS C12orf57 SUFU NOTCH2 SMC1A XRCC4 CNTNAP2 ANKRD11 PTH1R MSL3 FLNB FBN1 H1-4 EBP ADAMTS18 HNRNPU NEK1 KCTD1 FGFR3 WDR35 SPECC1L MASP1 COL3A1 ANKH IFT52 TBL1XR1 PIGU JMJD1C CRIPT TLK2 YY1 SPOP CHRNG CCND2 HP_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTOSIS KDM1A KDM6A NDUFS4 NDUFA4 ANOS1 UNC80 TRAK1 NDUFA13 SOX4 NALCN FOXL2 SYNE1 ARMC9 CHRND ATRX QRICH1 SHANK3 RB1 CCDC115 BRCA1 ZIC1 SLC1A2 NDUFV1 PROKR2 B9D1 PHOX2A RAD21 KANSL1 CREBBP IDS IL17RD FGFR2 LIG4 TOP3A TBC1D20 HDAC8 ARL3 KIFBP NSD2 NEB DHCR7 GSN FANCM ADA2 GNAI3 KATNIP KIF21A ACTL6A MYF6 ERF NDUFA12 NEFL SYT2 EP300 PDHA1 BPTF KCNH1 FDX2 BRCC3 POLG2 GABRA2 KRT14 ITGA7 ADPRS XRCC2 SOS1 GP1BB CHAT ADNP SETD5 NELFA HESX1 ABCC8 MEN1 MUSK TMEM237 MYOD1 RAPSN MASP1 BRAF FGF8 ACTB NDUFA1 DOK7 TRAF7 VAMP1 EDNRB GRIA3 PTPN11 AHI1 NDUFS2 CHRNE POLG CACNA1A DHX37 NARS2 SMS PAX7 ODC1 YAP1 RPS15A NDUFA9 RAD51 YY1 YWHAG GFPT1 SMC3 SLC18A3 COX10 CHRNG NOVA2 RRM2B NDUFAF1 DCC MAF HSPG2 SEMA3A KMT2E FANCD2 COMT KCNB1 SF3B4 TUBB3 CDK8 RYR1 RPL11 RPS19 C12orf65 ALX3 MED25 TCTN1 AARS1 FBXL3 TMEM107 UGDH GRIN2D TMEM216 SLC25A1 NDUFAF6 HECW2 HPGD DLAT COL13A1 SMARCD1 WDR11 TMEM67 FGFR3 RIT1 RPS10 TACO1 MAP2K1 ACBD5 OPA1 ZBTB20 BIN1 PEPD CHRNA1 AKT1 DNM1L TARDBP ZSWIM6 NDUFV2 NUS1 NSUN2 MYL2 LRP12 ACTA1 AEBP1 PIEZO2 TTN LGI4 CEP120 TCF12 SLC19A3 DNA2 NDUFB8 LRP4 RPS28 LAMB2 NOTCH3 FOXC2 FANCC CHN1 KMT2D PSMD12 ARID1A RRAS PIBF1 TENM3 ZEB2 GABRA5 MYPN IREB2 SC5D HNRNPK DCHS1 SDHA SMARCC2 RPL5 TPM2 ZC4H2 MECP2 MAD2L2 WDFY3 PHYH PPP1R12A ASXL2 MICU1 COA8 KISS1R MYH8 TMCO1 NDUFA11 NUTM2B-AS1 TET3 FLNA COLEC10 SURF1 COL2A1 NTRK2 RRAS2 TIMMDC1 SIX2 FGF17 MTMR14 APC CSPP1 PAX3 MYT1L NDUFS6 UFD1 B9D2 PIGL MAPK1 CDH23 DDC SLX4 TPM3 TRMT1 TK2 ACTL6B GABRB2 TUBB6 SMC1A FEZF1 DIS3L2 HMGB3 PEX5 ITCH TBC1D24 ZNF462 MED13 SLC5A7 SZT2 STXBP1 RPL15 PALB2 DARS2 AFG3L2 PEX13 PTS SEMA3E TWNK MAP2K2 RBCK1 TYMP ADAR PLEC ALDOA DDX6 MRAS KITLG TMEM138 ZMIZ1 SMARCE1 GATA1 TCTN2 HCN1 CDK19 FOXP1 FOXE3 LMNA CEP41 CDK13 KRT5 FANCE NDUFS3 FBN1 CFL2 SMAD4 NAA10 RPGRIP1L LIPT1 PDGFRB MRPS28 HS6ST1 JMJD1C CBL TLK2 CPLANE1 RPL27 ZFHX4 PEX14 ANO10 GMPPB EARS2 TWIST1 UBA1 LZTR1 KRAS SLC25A4 BCOR COLQ EBP MYH7 PIGQ KCNJ11 SOX11 MYMK NDUFS1 SVBP NDUFS8 ACTG1 MTFMT TREX1 NIPBL RPL35A KBTBD13 HACD1 PEX3 RPS7 LONP1 TFAP2A KIF11 SLC52A3 COX15 FANCF NDUFB9 DMPK SLC13A5 MYH3 PEX16 PLXND1 MED13L NPHP1 RLIM ZNF423 NDUFAF4 RNASEH2A MT-TN NDUFS7 CHD7 ARVCF IER3IP1 AIP SOX10 TCOF1 FLI1 CYFIP2 FGFR1 TOR1A AFF4 PREPL SLC16A2 STAC3 PABPN1 MKS1 MYO9A PUF60 FANCL PHF6 EEF1A2 NGLY1 TH KLHL41 PROK2 TFAP2B GIPC1 SLC18A2 TAB2 STAMBP CSNK2A1 PAH MYO18B TRAPPC4 FARS2 RBM8A DHDDS RNASEH2B ARV1 SALL4 SQSTM1 ARL13B SOST SUCLA2 TBX1 GABRG2 WNT5A ARID2 TMEM231 STAT3 TSR2 KMT2A SAMHD1 SKI FUS VCP ANKLE2 MAP3K20 VARS2 NECAP1 DGUOK FBXW11 CPLX1 PDX1 COL25A1 SEC24C PTPN22 GBA PET100 SCN8A ATXN3 NDUFB10 AGRN MT-ND2 FHL1 SLC17A5 COQ2 SOS2 B3GLCT TP63 DOCK3 AUTS2 IGF1 CC2D2A ALX1 SCN4A INPP5E MYF5 ARHGEF2 SPECC1L TBK1 NDUFAF2 SELENON SNAP25 CHRNB1 PEX19 TRIO HRAS MT-ND3 GCK KIF1B PEX1 NDUFAF3 NTNG1 TCF20 SCN3A CCDC47 SEPTIN9 SPR KCNA2 PURA COL1A2 RNASEH1 RNASEH2C NDUFA6 FZD2 CERT1 CEP104 NOP56 IFIH1 PEX2 SLC6A8 PLCB4 MARK3 SLC3A1 CNTNAP1 DPF2 GPRASP2 GPC4 PEX7 ECHS1 LETM1 FOXRED1 GRM1 SPRED1 PEX11B PDE4D WDR73 MT-TL1 C1QBP TMEM126B MT-TL2 HOXB1 PIK3R2 COLEC11 CHCHD10 SNAI2 YARS2 ERCC4 NUBPL NSMF SYNJ1 KAT6A FGD1 CDC42 RPS24 TGIF1 UBA5 TACR3 MED12 RPL18 PEX6 CNKSR2 TGFB3 SLC12A6 NF1 NDUFAF5 ZMYND11 TGFB2 NDNF UBE2T MCM5 RAF1 KIF5A DNM1 SMARCB1 PACS1 NDUFA2 WFS1 GLI3 DPAGT1 TMEM43 REV3L ALG2 NRAS RASA2 ARID1B DBH NDUFA10 SGPL1 FANCB MRPS34 RREB1 PTEN TANC2 RPL35 RPL31 HIRA MGME1 SLC30A9 MT-ND1 CLTC KDM5B SLCO2A1 A2ML1 RSPRY1 FANCI MAFB PUM1 PAX6 PEX10 RPL26 MYH2 SMARCA4 BDNF MED12L RAD51C SYNGAP1 DVL3 DNM2 FAT4 ATP6V1A GLE1 LMOD3 EMD ABHD5 MTM1 CNP SYNE2 FAM149B1 MITF DVL1 EDN1 SCO2 NDUFB11 NDUFB3 COL3A1 RERE CCDC141 ECEL1 CHD4 HYLS1 AK9 FGF12 NXN RPS17 PYROXD1 BRIP1 EXOC8 EED DALRD3 PEX26 ALG14 BRPF1 GFER SLC6A9 PPP3CA AP3B2 SETBP1 KIAA0586 PPP1CB FAR1 PEX12 RAB3GAP1 IARS2 HUWE1 CTBP1 BRCA2 ROR2 FGFRL1 RPS26 WWOX WT1 CACNA1B INS RPS29 BCORL1 LMX1B FLRT3 DUSP6 SPRY4 RFWD3 PARS2 NDUFAF8 C9orf72 FANCG FANCA MTTP RPS27 CEP290 UBE3B HP_ROD_CONE_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROD_CONE_DYSTROPHY NME8 MT-ND4 PCDH15 RPGR ABHD12 PDE6G MAPKAPK3 RSPH4A PEX19 WHRN CCDC151 C1QTNF5 BCS1L ACOX1 PRPF4 PEX5 ROM1 BBS12 HMX1 BBS4 CCDC114 POGZ OFD1 TOPORS USH1C SLC7A14 PEX1 CCDC103 ZNF513 SRD5A3 CFAP410 CNGA1 ZMYND10 PRPF31 CCNO CTSD DHDDS DNAAF6 PEX10 WARS2 PRPF3 CFAP298 PDZD7 LRRC6 KIF3B C8orf37 CRB1 NDUFA9 KIF5A ARL6 MT-TV STK36 PEX14 NEK10 CCDC65 GATA3 DNAAF4 IFT140 MYO6 EYS AIPL1 RBP3 TELO2 PMM2 RSPH1 TULP1 GAS2L2 GAS8 CRX TMEM67 MT-ND1 RPE65 RP1 PCARE SAG DNAL1 DNAH11 ADGRV1 APOB MFRP PRPH2 DNAH9 PEX6 PEX13 PEX26 NEK2 RP2 CDHR1 DNAI2 DHX38 USH1G MT-ND6 BBS2 ASPA GRK1 FLVCR1 ABCA4 MT-TL1 HGSNAT MT-ATP6 DNAAF1 DNAH1 GGCX DYNC2I2 BEST1 IQCB1 BBS7 MYO7A ATXN2 FOXJ1 BBIP1 PRPF8 MT-TK TTC8 SEMA4A RHO IFT172 PRPF6 PEX11B MAK LRAT DNAAF3 SPAG1 PEX12 SH2B1 BBS9 CFAP300 ZNF408 DNAH5 DNAAF5 MVK MKS1 COQ2 SLC35A2 HSD17B10 BBS5 CNGB1 CERKL KLHL7 PRPS1 KIZ CCDC40 PANK2 HYDIN ARL2 PDE6A BBS1 PEX7 MDH2 LRRC56 CEP290 CCDC28B CFAP221 MT-ND2 RPL10 GUCA1B SPEF2 SDCCAG8 FSCN2 DRC1 ACBD5 IMPG2 IFT74 PEX16 CLRN1 AP3B2 ARL2BP RSPH9 BBS10 CDH23 CLN3 DNAAF2 PEX2 ARL3 MT-TW TTC12 EXOSC2 RP9 IDH3B TTC25 PRCD MERTK PDE6B ARMC4 FAM161A RDH11 PROM1 PEX3 USH2A NR2E3 HSPD1 NPHP4 AHR MT-ND5 CIB2 PPP2R3C FDXR MKKS TRNT1 RGR HK1 NPHP1 DNAJB13 MCIDAS IFT27 WDR19 IMPDH1 CWC27 MT-ND3 MTTP NRL CCDC39 RSPH3 DNAI1 PHYH REEP6 CLDN19 TRAF3IP1 SNRNP200 HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY NPC2 SPG7 ATXN1 ATP13A2 POLG MAPT DLAT SQSTM1 NPC1 CCDC88C DCTN1 VPS13A KCNC3 NOP56 TWNK FTL PIGT POLR3A PLA2G6 ACOX2 HP_ABNORMAL_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTRORETINOGRAM SAG RHO RDH12 SLC7A14 CACNA2D4 PDE6H MCOLN1 WDPCP GUCY2D LZTFL1 SUCLA2 RLBP1 SNRNP200 TOPORS CEP290 EYS GNB3 ACOX1 SEMA4A RP2 RPGR PRPF4 IDH3A CNGB1 PDE6B IFT27 USP45 LCA5 MT-ATP6 WWOX CLRN1 POGZ BBS1 PRPH2 PIEZO2 IFT140 BBS2 NRL MYO7A HADHA GRK1 KCNJ13 ZNF513 CACNA1F USH1C BBS10 SCAPER C8orf37 PDE6A RPE65 KIF3B WHRN KIZ RP1L1 BEST1 ALG3 USH2A ROM1 HARS1 GNAT2 CNGA3 SSBP1 PEX1 CDH23 PDE6C ARL2BP RP1 KLHL7 AIPL1 PROM1 PGAP1 TIMP3 AHI1 VSX1 ADAR RPGRIP1 LRAT PCARE POMGNT1 CRX ADGRV1 GUCA1A MFRP OPN1SW TULP1 GNB5 RD3 CHM TRPM1 GDF6 NUP62 ABCA4 GRM6 BBS7 IMPG2 CIB2 RP9 NOTCH3 IMPDH1 FSCN2 CNGB3 TKFC AHR TTC8 MAK PDE6G CRB1 ARL6 USH1G IQCB1 SPATA7 RDH5 KIAA1549 SLC24A1 CLCC1 NEK2 PDE6D CERKL PRPF3 PRCD EMC1 CEP104 AGK IFT88 PDZD7 RS1 IDS PCYT1A PCDH15 MT-TS2 RGR DHX38 IFT172 CEP78 TRIM32 NYX BBIP1 MKKS BBS5 BBS9 LARGE1 CNGA1 NR2E3 GPR179 BBS4 FLVCR1 CAPN5 ESPN CLN3 HSD17B4 BBS12 REEP6 CABP4 TPP1 RNF216 ARL3 IDH3B ATF6 PPT1 GUCA1B NMNAT1 AGBL5 TUB OPN1MW ARHGEF18 MKS1 PNPLA6 OPN1LW PRPF31 FAM161A CDHR1 PRPF6 MERTK GNAT1 NPHP1 ZNF408 HGSNAT SDCCAG8 PRPF8 SLC25A4 RBP3 CA4 OFD1 PEX12 TIMM8A ARSG DHDDS LRIT3 HP_SLOW_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_SACCADIC_EYE_MOVEMENTS GJC2 PDYN ALS2 ATXN1 MAPT VAMP1 COQ5 DHX16 ELOVL5 AFG3L2 TMEM240 NOP56 SNCA SLC44A1 ATP13A2 DARS2 PIK3R5 FBXO7 ATXN2 VPS13A AGTPBP1 ATXN8OS ATP2B3 PRNP CHP1 PLD3 ATXN7 GBA MRE11 PEX2 SHMT2 HP_ABNORMALITY_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LENS NOD2 WDR35 RHO CLIP2 DSG4 FKRP SOX4 GUCY2D ERCC3 FDXR PEX5 KCNH1 MT-CO3 RB1 BRCA1 BCS1L FOXE3 BTNL2 PAH XPC DDB2 RTEL1 EOGT USP45 PEX6 NOTCH1 KANSL1 CREBBP CEP55 SAG UNC45B STAT4 DNMT1 LIG4 CDH11 PRPH2 AKT1 B3GALT6 TBC1D20 ALG2 MT-TF HDAC8 FKTN IFT140 MT-TK IL23R RIC1 GBA2 MT-TE KCTD1 FBN1 DHCR7 CBS PIK3R1 GSN FANCM B4GALNT1 ADA2 SLC25A13 PEX10 SEC23A C8orf37 WHRN FIBP USH2A EP300 B3GALNT2 ALDH18A1 RP1 EYS TMEM107 BRF1 EPG5 TBL2 TBR1 BRCC3 AHI1 FAM111A PEX26 ACTB GSR PEX16 XRCC2 GP1BB ADGRV1 KCNA4 COL18A1 LSS SALL4 DYNC2I2 UBAC2 ERCC5 MKS1 COG4 SIPA1L3 WDR81 RP2 ABCA2 GDF6 KIF1B SCAPER POLG2 ERCC1 VAC14 ERCC8 CRYBA2 CRYGB RAB3GAP2 LIMK1 CLPB ZNF513 RNF13 PEX3 HLA-DRB1 RPE65 PCARE POMT1 GJB6 ADAMTS18 COL2A1 LPAR6 ATAD3A YAP1 ZNF408 MT-CO1 C4A CRYBB2 SIL1 RPS15A BAP1 NDP EBP RAD51 DMPK SMC3 LEMD2 DKC1 WRN PEX12 AIPL1 POMK MAF MT-CYB HSPG2 MOCS1 COL11A1 NEK2 COL4A1 FANCD2 COMT IFT88 PDZD7 PDE6A ANAPC1 CCR1 RPL11 FTL TONSL RPS19 PCYT1A PCDH15 ALX3 ASPH MED25 PEX7 GMPPB SMCHD1 RGR CTDP1 PTCH1 PEX11B IMPDH1 SHROOM4 BUB3 TCTN2 IFT172 GLA TGFBI PTH SMARCD1 PQBP1 PEX2 RPS10 CYP7B1 FLVCR1 ZBTB20 C12orf57 B3GLCT ERCC2 ELP4 IQCB1 MT-ND6 EHMT1 SRD5A3 ESPN NHS GNAS ARL3 GTF2H5 GJA3 NSUN2 AMMECR1 FOXC1 ERAP1 RAB3GAP1 WNT3 OAT PTEN AGBL5 RDH11 NSD1 POMGNT1 ARHGEF18 RPS28 GJA1 FOXC2 FANCC FLNB TRPV4 ARID1A GEMIN4 ZEB2 SDHB MEFV ELN HLA-B SPRTN CRYBB3 IFT80 NR2E3 DAG1 NOP10 MTAP OCRL SC5D CNBP SMARCC2 RPL5 DPAGT1 RBP3 CA4 LIPH ERCC4 ATP8A2 MAD2L2 SDCCAG8 TDRD7 PHYH FBXW11 CRB1 REEP6 PAX6 MORC2 RERE FGF5 SEC31A DNM1L SLC7A14 TMEM127 RNF113A ERCC6 SNRNP200 TOPORS SUMF1 APC GALM USP9X SEMA4A UFD1 IDH3A SLX4 HMX1 CHMP4B TUBGCP6 SEC23B WFS1 KCNJ13 WT1 PIK3CA TBC1D24 BBS2 SLC33A1 NUP188 OCLN FAS GTF2IRD1 ETFB SALL2 NAA10 IKBKG POMT2 ESCO2 HLA-A KLLN RPL15 RFC2 PALB2 LOXL1 ATOH7 PEX13 HARS1 FBN2 CRPPA PEX14 TWNK XYLT2 INPP5E B9D1 TAP2 LAMB2 KLHL7 GALT LRAT CRYBA4 GNAQ POLG LRP2 FAM126A SMARCE1 GATA1 LRP4 SDHD SUFU ADAMTSL4 RD3 TUBG1 EXOC6B SMAD3 ABHD5 SETD2 FANCE KRT71 SMAD4 CRYGC KRT83 KDSR IL12A-AS1 CEP290 COL5A1 MAX MRPS28 INPP5K FAM50A CRYBB1 JMJD1C TKFC AHR PTCH2 MAK RPL27 ETFA USH1G ANO10 INTS1 RDH5 SREBF1 ABCA12 OTX2 MAB21L2 TMEM231 STX16 IARS2 MYSM1 CASK PORCN MIPEP VLDLR MIP USB1 MT-TS2 CC2D2A SOX11 DHX38 CEP78 TMTC3 CCDC28B RPGRIP1 PNPT1 NIPBL LRP5 GALK1 CRX RPL35A RLBP1 CNGA1 PRDM16 RPS7 PITX3 GDNF NEU1 ALDOB LONP1 TFAP2A LARGE1 CEP57 KIF11 ARL2BP SDHC MVK COL9A3 TARS1 CENPF FANCF COL4A6 NF2 KRT86 TINF2 GNPAT PHGDH ALDH6A1 IDH3B CA8 CRYAA ARVCF DACT1 WDPCP BEST1 COL4A5 FLI1 PRPF31 CPT2 RPGRIP1L AFF4 SLC2A1 CYSLTR2 MERTK BAZ1B KLRC4 LMNA ROM1 FANCL PHF6 LAMB1 PRPF8 PAX2 LIM2 SLC25A4 POLR1D TAP1 ITM2B POMGNT2 PSAT1 DHDDS KIAA1549 BUB1B ABHD12 NPHP1 TBX1 PEX19 KIAA1109 ARID2 TRAF3IP1 BCOR TSR2 LOXL3 VHL RPGR PRPF4 PDE6B VCAN LCA5 DGUOK SEC24C NRL MYO7A RBPJ PEX1 COX7B ATP6V1A GTPBP2 GTF2I USF3 NDUFB11 RSPO2 AGK NACC1 PRUNE1 AGA TELO2 MIR140 LMX1B MT-TC ALX1 CLRN1 CRYGS AIRE TRAPPC11 SMC1A ARHGAP31 DYNC2H1 ATP6V1B2 RAB18 CYP27A1 SLC40A1 MPLKIP LTBP2 SALL1 VSX2 BFSP2 IL12A MIR184 UBE2A UBA5 CIB2 RP9 CTC1 ARL6 ALMS1 FSCN2 BBIP1 FYCO1 RECQL4 HCCS SPATA7 POLR1C TMEM216 DPF2 TERC PMM2 CERKL RS1 ARL2 FLNA CRYGD CFAP410 WDR73 TAPBP ITPA MT-TQ CNGB3 ETFDH USP8 MT-TL1 FZD4 BMP4 MT-TW KCNN3 SLC16A12 AASS TTC8 AP1S1 KCNAB2 POLR3A OPA3 SUOX HNRNPA1 CHRDL1 GJB3 P3H2 AMER1 NPM1 PIGY INVS HTRA2 RET RPS24 NAGA GJA8 CRYBA1 KMT2C MAN2B1 RALGAPA1 CDHR1 WDR19 COL7A1 RPL18 NOTCH2 GJB4 CRYAB PIK3C2A GABRD FAM111B TRIP13 ADAMTS17 HGSNAT FH CPAMD8 BFSP1 UBE2T PLK4 RAD21 ABCA4 SMARCB1 RDH12 VCP RPS6KA3 CHSY1 HNRNPDL ARSL TMEM70 MYMK KRT25 DOCK6 CNGB1 VIM RXYLT1 TRIM44 BUB1 TERT FANCB GTF2E2 IL10 RREB1 MOCS2 COL4A3 RPL35 KIZ RP1L1 RPL31 HIRA MAFA CDH23 JAM3 PITX2 HSF4 FANCI COL9A1 ADAMTS10 NEK9 USH1C MIR204 CEP164 SETD5 RPL26 MFRP ZNF335 TULP1 ARID1B ENTPD1 SMARCA4 BDNF RAD51C KRT74 SKI PROM1 MT-TV XPA SIX6 EPHA2 PTH1R MSMO1 MT-CO2 IMPG2 PLOD3 WRAP53 FAR1 NPHP3 NHP2 MYH9 GFER PDE6G DLL4 BBS9 SF3B1 COL4A4 PXDN PTPN22 PRPF3 PRCD RPS17 RRM2B BBS1 BRIP1 EED JAG1 TKT CYP1B1 FIG4 APC2 MAP2K2 MT-ND1 SLC4A4 TUBB2B B9D2 FBXL4 KMT2A PARN PNPLA6 CLN3 MMP1 DYNC2I1 KRT81 TLR4 XRCC4 GUCA1B NMNAT1 BRCA2 TUB RHOA RPS26 TMEM67 FAM161A NPHP4 CAV1 ADNP DYRK1A GCNT2 PRPF6 CSPP1 RPS29 FGF3 OPA1 TCOF1 OFD1 TGM3 HNRNPA2B1 RFWD3 GNA11 FANCG FANCA ALG8 MT-ND5 RPS27 COL9A2 B4GAT1 PLCG2 ARSG HP_DEVELOPMENTAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_CATARACT ETFA CTDP1 RECQL4 PAX6 PEX5 SDHB TMEM127 MT-TS2 ERCC3 RNF113A CRYAA MAF MT-CYB MT-CO3 NHS ALDH18A1 BCOR TSR2 IARS2 COL4A1 DOCK6 VHL RPS17 RPL11 RPS19 WFS1 KANSL1 MED25 MT-TQ MIP PNPT1 TBC1D20 ETFDH MT-TF PEX11B COL11A1 FAM126A SLC33A1 NUP188 GTF2E2 RIC1 GFER ETFB PEX7 KCTD1 NEU1 PHGDH MAP2K2 ADA2 MT-TW MT-ND1 RPL35A RPS10 RPL35 RPL15 RPS7 GDNF CRYAB RPL31 LONP1 CRYGD AGK ERCC2 GJA8 MAFA MT-ND6 EHMT1 MT-TK TARS1 CRYBB2 GTF2H5 TELO2 FAM111A ATAD3A RAB3GAP1 PIGY MT-TC MT-TL1 RET MIR204 RPS24 GATA1 CRYGC RPL26 KCNA4 COL4A5 RPS26 COL18A1 RPS28 LSS ENTPD1 CRYBA1 KMT2C SIPA1L3 CAV1 ABCA2 RAB3GAP2 GCNT2 RPS29 RPL18 MT-TV KIF1B ERCC1 CRYBA2 CRYGB PIK3C2A MPLKIP ANAPC1 EPHA2 LMNA CRYBB3 MSMO1 BFSP2 OCRL POMT1 MIR184 MT-CO2 EPG5 UBE2A RPL5 ERCC6 MT-ND5 MAX RPS27 MT-CO1 CRYBB1 SIL1 RPS15A LEMD2 ERCC8 RAB18 SDHD RPL27 SEC31A HP_PROPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPTOSIS CDH11 RAC3 COL11A1 COL2A1 XYLT1 WNT5A SMARCE1 FLNB RRAS2 BRCA1 NRAS RASA2 ZFPM2 KCNJ6 EXTL3 APC MAFB NAA10 TBX1 SKI FGFR3 ZIC1 ASXL1 SLX4 COG4 CKAP2L FGFR1 FGFR2 GJA5 PLAGL1 B3GALT6 FANCB CPLX1 FAM20C ITCH JAG1 SLC29A3 KRAS PSMB8 NOTCH3 GDF1 PLCB3 NSD2 SETBP1 FANCM CDK5RAP2 ATXN3 HYMAI PTEN RNU4ATAC POR ESCO2 SEC24D ERF COL11A2 PALB2 LMNA TGFB1 BAP1 PRUNE1 SMARCB1 TGFBR2 DDR2 SOS2 MAN2B1 PHGDH FBN1 SNRPN AUTS2 CDON A2ML1 FANCI GATA4 ZMPSTE24 TSHR LRP2 ALG9 XRCC2 SOS1 RAF1 NLRP3 SPECC1L TBC1D24 FLI1 PDGFB NXN NELFA DYNC1I2 LRP4 MUSK CLP1 GATA5 MYOD1 RAD51C MITF CTSK DVL3 MMP2 PTH1R VAC14 DVL1 INSR EXOC6B SMAD3 SHPK AKT1 P3H1 IFT81 FANCE BRAF CHST3 AFF4 SHH NKX2-5 GZF1 CDKN1C ROR2 PLOD3 MAF NFIX SMS COL3A1 SOX9 TCF12 PDGFRB MRAS DHCR7 FZD2 CBL STAG2 RAD51 CRIPT CRTAP SMO PPP2CA FLNA TRAF7 TERT NIPBL PIGB RSPRY1 SOST BPNT2 NBAS ELMO2 TTC37 LETM1 GATA6 FANCD2 FOXC1 HNRNPK CDC45 NF1 BRIP1 RECQL4 EFEMP2 ASPM POLD1 TGFBR1 NDE1 PTPN11 IGF2 P4HB BGN PKDCC FIG4 B3GAT3 NKX2-6 SH3BP2 PEPD VANGL2 COL1A1 THRB HERC1 TNFRSF11A CANT1 PRTN3 SUFU TWIST1 MTHFR ERCC4 MTX2 ALPL FLT4 BANF1 ABCA12 FANCF GNPTAB WASF1 TCTN3 NF2 EP300 CTBP1 SLC25A24 BRCA2 HLA-DPA1 KAT6A SLC39A14 FGFRL1 TAF1 SERPINH1 FANCC CREBBP WDR4 SLC16A2 B4GALT7 RRAS CTLA4 MYD88 TGFB3 RIT1 FANCL KCNQ1 KCNQ1OT1 ADAMTS10 SLC39A13 SH3PXD2B HLA-DPB1 UBE2T LZTR1 RFWD3 PTPN22 FANCG RTTN FANCA PLK4 PARS2 MAD2L2 FGF9 PIK3CA KLHL7 PCLO ASXL2 PSAT1 CITED2 HP_ALACRIMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALACRIMA PIGQ FGF10 FGFR3 ELP1 SLC12A2 FGFR2 AAAS MADD NGLY1 GMPPA PAX1 SETBP1 DST SOX10 TRAPPC11 CLDN10 HP_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCAPSULAR_CATARACT ARL3 ABHD5 OFD1 RBP3 DMPK FOXC1 ZNF408 LRP5 ABHD12 PAX6 CYP1B1 PITX2 SPRTN OAT FZD4 TONSL TULP1 FOXE3 ALMS1 ADAMTS18 IMPDH1 CNBP IMPG2 PDE6A CHMP4B GJA8 ARL2BP REEP6 NF2 OPA3 UNC45B EYS HP_ABNORMALITY_IRIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_IRIS_MORPHOLOGY LYST CLIP2 WT1 SALL4 HHAT FKRP AP3D1 ARMC9 CRYAA PEX5 BTRC RB1 PRKG1 TMEM231 BRCA1 FGFR1 BCOR IGBP1 SIX3 PAX6 PAH DIS3L2 RPGRIP1 CCDC22 PRPH2 MLXIPL LARGE1 B9D1 PEX6 CEP55 SOX10 RAB27A POGZ FGFR2 SLC45A2 ITPR1 CPLX1 ALG2 PEX2 OCRL MYO7A SNRPN DISP1 TYR COX7B DLX6 KCTD1 GTF2I KIFBP NSD2 PIK3R1 NDUFB11 SMAD3 FANCM TMEM67 KATNIP RSPO2 ERF NDN WHRN BLOC1S3 NODAL GNAQ PTCH2 ALG3 USH2A SEMA3E PDE4D B3GALNT2 COQ2 OVOL2 FBN1 MYLK SNAI2 TMEM107 B3GLCT TBL2 TBR1 TFAP2A SEM1 CC2D2A PEX26 INPP5E XRCC2 GAS1 PEX13 ADGRV1 NELFA EPS15L1 TMEM237 OCA2 HERC2 MKS1 NF1 ACTB C12orf57 POMT2 PWAR1 IMPG2 LIMK1 MFAP5 EDNRB TRIP13 LDHD SLC25A11 SALL1 VSX2 DLX5 GATA1 KANSL1 MIR184 AHI1 TRIM28 FAM111A CIB2 TGFB2 PTCH1 LTBP2 GPC3 LPAR6 PITX2 PEX3 RBP4 DHCR7 NPAP1 CRYBB2 BAP1 NDP RAD51 PCYT1A CEP104 SNORD116-1 PEX14 PHOX2B RPGRIP1L SHH HCCS GMPPA MAT2A TYRP1 IGF1R FOXC1 POMK PAX3 POLR1C TMEM216 CRYBB1 CSPP1 TRAPPC11 LETM1 DTNBP1 COL4A1 FANCD2 PDZD7 MITF CRYGD MKRN3 SNORD115-1 AAAS VHL EDN3 WDR73 PCDH15 ALX3 ASPH GMPPB MPZ SMCHD1 TCTN1 STIM1 TCTN2 BLOC1S6 BMP4 ZEB2 DLL1 SOS1 UBE3A PEX10 PTEN MAF KCNAB2 BRCA2 MBTPS2 TP63 SDHB ERCC4 ELP4 FOXE3 SRD5A3 ESPN CHRDL1 KIT AKT1 GDF3 MAX WNT3 CEP120 BEST1 MSH6 POMGNT1 GJA8 GJA1 FANCC CHN1 CDON SDHC NOTCH2 ZEB1 PIBF1 DLST PRKAR1A TENM3 SOX2 TGFBR1 ELN LOX NOD2 GABRD ATP6V1A AMACR DAG1 ADAMTS17 CPAMD8 WNT10B GRHL2 UBE2T EPG5 MYOC MC1R LIPH MAD2L2 RERE KIF1B PEX11B FKTN MYH11 FLNA SMO TGFBR2 KRT25 CRYBA4 HPS4 MAPK1 ACTA2 SLX4 ELP1 RXYLT1 CLRN1 SMAD4 IMPG1 MAGEL2 FANCB VSX1 NOTCH3 SDHAF2 GTF2IRD1 FH SALL2 VPS13B NAA10 RFC2 PALB2 NRAS LOXL1 ATOH7 ANK1 POMT1 HARS1 CRPPA HPS6 ADAMTSL1 GPR143 PEX1 CDH23 HPS1 LAMB2 TGIF1 ERCC6 FANCI MAFB GLI2 LRP2 WASHC5 KITLG USH1C TMEM138 FGF8 CHD7 SUFU ADAMTSL4 BDNF MED12L ARL13B RAD51C KRT74 H19 KRAS REST SKI SDHA CEP41 COL8A2 SIX6 FANCE KRT71 TRIM44 POU6F2 MYO5A ROR1 TBX2 CRYGC GZF1 COL3A1 CEP290 TBX22 HYLS1 CPLANE1 SDHD USH1G ZIC2 SF3B1 PEX12 XYLT2 SIN3A RET MAB21L2 PNPLA6 MMP2 PEX19 BRIP1 PORCN ATP10A DDX6 MT-TS2 TMEM127 CEP78 SLC24A5 ACTG1 AP3B1 ARL6IP6 B9D2 PRDM16 TGFB3 PEX16 KIAA0586 CENPF FANCF UROC1 MMP14 YAP1 NPHP1 MLPH ZNF423 MDH2 CTBP1 CYP1B1 MPDZ DACT1 PWRN1 WDPCP ARL3 RHOA FGFRL1 TINF2 FLI1 LRP5 ADNP DYRK1A HPS5 TDGF1 CYSLTR2 HRAS FGF3 TCOF1 BAZ1B LMX1B PUF60 FANCL FOXH1 RFWD3 GNA11 FANCG POLR1D FANCA POMGNT2 B4GAT1 ARSG HP_ANIRIDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANIRIDIA SDHD WT1 SEM1 MAX FOXC1 MAFB MDH2 BTRC RET PAX6 ITPR1 EPS15L1 DIS3L2 CHN1 VHL H19 SDHC REST PORCN DLST TMEM127 SDHA TRIP13 TRIM28 LDHD SLC25A11 DLX6 SDHAF2 TP63 FH DLX5 TRIM44 POU6F2 NF1 WNT10B FAM111A GPC3 PITX2 BRCA2 SDHB ELP4 FOXE3 SALL4 KIF1B HP_LONG_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_EYELASHES SMARCA4 PUF60 SOX4 RAC3 PACS1 CNOT2 MGAT2 NIPBL WNT5A HSPG2 KDM6A DPF2 EP300 ABCC9 DOCK7 SHANK3 LTBP3 ARID2 MAB21L2 NAA10 TENT5A KMT2A PNPLA6 NXN SMC3 ARID1B SLC35C1 VPS33A FBXO11 PREPL CREBBP SMC1A EXOC8 SRCAP CTDP1 SOX11 HDAC8 KCNK9 ARID1A MOGS SLC6A9 VPS13B SMARCD1 BMP1 KCNN3 CTCF PPM1B KCNJ8 KCNH1 TAF1 ATP6V1B2 SLC25A24 VPS51 RPS23 SLC3A1 CLP1 DVL3 OTUD6B TAF6 DENND5A EGFR MAN1B1 COX5A ARHGEF2 CAMKMT SMARCE1 MADD ROR2 SETD5 RUSC2 FBN1 SMARCC2 DVL1 FRMD4A KMT2D AFF4 KCNK4 SMARCB1 ORC1 TBX4 STAG1 SHOC2 SMARCA2 MAF BRCA1 VARS1 NOTCH2 FZD2 HPDL RAD21 FGF5 MAB21L1 TMCO1 SPOP SEC31A HP_ANOPHTHALMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOPHTHALMIA RAX TMEM107 FKTN FREM1 COX7B ERCC4 SHH POMK TMEM216 CHD7 DOCK7 OTX2 NDUFB11 SIX6 MAB21L2 KIF7 BCOR SH2B1 WDPCP TMEM231 CSPP1 POMGNT1 TMEM67 SOX2 RPGRIP1 HYLS1 MKS1 TCTN2 ERCC6 LARGE1 RPGRIP1L COL4A1 RXYLT1 PORCN POMT2 CEP55 ERCC1 BMP4 SMOC1 SMCHD1 CC2D2A RARB FREM2 DAG1 STRA6 FKRP NAA10 ERCC8 FANCB B9D2 HCCS GRIP1 RBP4 CEP290 POMGNT2 TFAP2A SEMA3E GLI2 POMT1 KIF11 CRPPA B4GAT1 B3GALNT2 FRAS1 B9D1 HP_PROGRESSIVE_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_LOSS KIAA1549 MT-ND1 RHO TRAF7 TERT GUCY2D EPRS1 NPHP1 RAX2 CYP4V2 RDH5 PCYT1A SMARCE1 MT-CO3 PEX7 TRAF3IP1 PRPS1 ATP1A3 CARS2 FA2H MT-ND2 CDH23 MT-ND4L LRP2 NF1 CFHR3 TRIM44 DNM1L PRPH2 GUCA1A ARL3 CTNNB1 SH3BP2 NDUFS2 RLBP1 SOST TNFRSF11A DCN RS1 SUFU NEU1 CFH BAP1 SLC25A46 IQCB1 C8orf37 OPA1 SMARCB1 CLN3 C19orf12 PNPLA6 MT-ND5 TPP1 UCHL1 TGFBI OAT INVS PPT1 NF2 HMCN1 CLN5 IFT140 MERTK PDGFB CEP164 AIP RDH11 MEN1 MT-CYB SON CHM NPHP4 WDR19 TREX1 CDHR1 GJB6 MT-ND4 AKT1 MT-CO1 CLN8 CFHR1 CEP290 BRAF APOE COL18A1 MFN2 MT-ATP6 CFI PHYH SDCCAG8 GJB2 MTTP ZNF408 NPHP3 PIK3CA SEMA4A MT-ND6 ATXN7 CLN6 SMO RP1L1 HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY CLDN19 RPGRIP1L PEX11B FKTN SALL4 HHAT BCOR CC2D2A GUCY2D PEX12 POMK CYP4V2 SLC25A15 TMEM216 HLA-DRB1 TMEM231 NDP RPGRIP1 CCDC22 TSC2 PEX19 CASK VCAN TUBGCP6 LARGE1 VPS35L PEX6 COL4A1 RXYLT1 PORCN CEP55 CRX JAG1 MAGEL2 PAX6 GUCA1A PEX2 OCRL MT-TK ACVRL1 TCTN2 MT-TL1 HADHA VSX1 ZEB2 CLCN2 MT-TE BMP4 PRPH2 NDE1 VPS13B NAA10 IKBKG PEX10 PTEN FSCN2 B9D2 HLA-A TUBGCP4 PEX16 C12orf57 SEMA3E POMT1 ROM1 KIF11 CRPPA CRB1 B3GALNT2 TEAD1 OVOL2 AKT1 B9D1 EYS GDF3 TMEM107 PNPLA6 UBE3B BEST1 TMEM67 YAP1 PEX5 COX7B PEX26 ZNF423 SHH OAT MAFB WASHC5 TMEM138 INPP5E EP300 RNF216 CHD7 PEX13 NDUFB11 DACT1 SAG WDPCP POMGNT1 SIM1 TMEM237 TSC1 CHN1 CREBBP MKS1 RP2 CSPP1 POU3F4 ACTB POMT2 ZEB1 COL8A2 SIX6 DHX16 SALL1 DAG1 FKRP DPP6 GRHL2 CHM PAX2 ADAMTS18 WAC GZF1 PEX1 HCCS PEX3 RBP4 CEP290 NRL POMGNT2 ZNF408 RERE TBX22 RPE65 B4GAT1 PEX14 HP_CHORIORETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_ATROPHY GUCA1A PRPH2 ACVRL1 GUCY2D HADHA CRB1 OAT CYP4V2 SLC25A15 CHM PAX2 NDE1 SAG FSCN2 NRL ZNF408 VCAN ROM1 RPE65 TEAD1 CRX JAG1 EYS HP_ABNORMAL_EYEBROW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYEBROW_MORPHOLOGY KDM1A KDM6A DSG4 PIGW FBXO31 PUF60 CDH11 SOX4 ACER3 FOXL2 SMPD4 KMT2C ARMC9 XYLT1 STRADA RMRP KCNH1 SHANK3 ARID2 SLC9A6 ABCC9 TMEM231 LMNA SLC6A17 BCOR TWIST2 TRMT10A SPATA5 KMT2A PHF8 MEIS2 RTEL1 HR BPTF IFT27 CYFIP2 MLXIPL SLC35C1 B9D1 CREBBP MBD5 SOX10 TRPS1 LIG4 ZNF711 FGFR1 FBXW11 CPLX1 MAN1B1 FAM20C HDAC8 ALOX12B ARL3 RAC1 SLC29A3 KRAS ARID1A GTPBP2 KIFBP NSD2 HBA2 KATNIP NSUN2 ACTL6A RNU4ATAC KCNJ8 RIPK4 RAD21 TAF1 CLDN1 LSS FUCA1 ATRX EP300 SEMA3E CHD1 COL11A1 NECTIN1 KRT74 OFD1 RPS23 CYP4F22 FRAS1 CHD7 BRF1 MITF OTUD6B DOCK3 TMEM67 AUTS2 CDON CC2D2A COX7B DEAF1 ALX1 RAG2 INPP5E SPECC1L SMC1A LMX1B SETD5 NELFA RUSC2 PPP1R15B FBN1 TMEM237 MAP3K7 FRMD4A ADAM17 PYCR2 ATP6V1B2 CDH3 MASP1 WDR26 SHOC2 KCNK4 ADA ACTB TTI2 TRIO SGSH VAC14 C8orf37 SHMT2 RET SIM1 EDNRA MBTPS2 CCDC8 NTNG1 TCF20 BRAF CCDC47 SMARCA2 GJB6 AHI1 UBE2A AFF4 NFIB PURA COL1A2 CTC1 LPAR6 NFIX SMS ODC1 NOTCH2 SOX18 KRT71 RPS28 CERT1 CRIPT CEP104 YY1 SMC3 DKC1 MAB21L1 DPH1 PKP1 ZIC2 SMARCA4 RPGRIP1L STAG2 LARP7 ALOXE3 RECQL4 TYRP1 IGF1R MN1 AIP TP63 PAX3 MAF HSPG2 GNPTAB SPINK5 DPF2 CSPP1 TERC GPRASP2 SIN3A PGAP2 LETM1 TMEM216 KMT2E DNMT3A TMEM94 ASXL3 SF3B4 HMGA2 RAG1 POLR3A DLX4 WNT10A ANAPC1 GJB2 CDC45 EDN3 EHMT1 KLF13 MED25 TCTN1 NAA10 CRKL WNT10B UGDH TRIM32 CHRNA7 ACTG1 ERMARD BBIP1 COLEC10 B3GAT3 PSMD12 PIGS ZEB2 HECW2 KANK2 SOS1 SMARCD1 PQBP1 KCNN3 CTCF BBS9 COLEC11 MAPK1 KCNAB2 MAP2K1 HBA1 SZT2 ZBTB20 DCAF17 C12orf57 PPP1CB ANTXR1 PIGK AHSG STXBP1 ABCA5 CAMK2G IL1RAPL1 UBE3B RBM10 AMMECR1 NPM1 TRAPPC9 MAN2B1 KREMEN1 CDC42 IFT172 EDAR CEP120 DSP SLC25A24 OBSL1 FHL1 KMT2D SMARCE1 RALGAPA1 PIBF1 NPHP1 STAG1 RPL21 GABRD SPOP EDARADD NOP10 PEX1 ITGB6 CUL7 NRAS MC1R SMARCC2 WAC TBCK LIPH WDR35 CWC27 AIFM1 UGP2 TTC8 TCTN3 LRPPRC EDA WDFY3 ASXL2 SMARCB1 PACS1 RERE TMCO1 SDR9C7 POLA1 KCNMA1 HSPA9 KIT TBX3 PGAP3 WDPCP MGAT2 IL7R SNRPE SULT2B1 LZTFL1 AEBP1 LTBP3 SUMF1 DOCK7 PIGV KRT25 EPS8L3 NECTIN4 MKS1 MYT1L FLII ARID1B ASXL1 TGM1 NANS TRMT1 ACTL6B SNAI2 RAI1 LEMD3 ANKRD11 TERT BBS1 KIF7 KCNK9 SETD1B SOX6 NUP188 B4GALT7 ZNF462 MEGF8 MED13 FOXP2 FAM149B1 DNAJC21 BBS10 ZSWIM6 VPS13B SMCHD1 ZMPSTE24 TANC2 CPLANE1 TRRAP MAGEL2 HNRNPK HEPHL1 IL2RG ITGA3 PDE6D RPS6KA3 MEF2C BCR CDKL5 DDX6 KIAA0753 COX5A ALX4 GPR101 TMEM138 SMAD4 KNL1 PIGN PACS2 ERLIN2 TCTN2 NIPAL4 SON CLP1 MED12L ARL13B SLC39A4 CDH2 TGDS SKI TUBGCP2 IDUA APCDD1 BMP2 BCL11B GAD1 PIGL CEP41 DSC3 CHSY1 BBS7 DHX30 NEPRO CHST3 CDK19 FGF3 IQSEC2 KRT83 FREM1 JUP COL3A1 WRAP53 SMOC1 FAR1 CTU2 NAGLU KRT17 NHP2 IRX5 ECEL1 MAP1B ZMIZ1 COG6 HYLS1 MAP2K2 UQCC2 PHIP PEX6 KRT85 INTS1 CNOT2 ARL6 NIPBL SCARF2 EGFR PTPN22 XYLT2 OCA2 NBAS SLC35A2 CUL4B LZTR1 EDNRB IARS2 HDAC4 PNPLA6 TBCD PCNT VPS35L CCNK RNF125 PUS7 ASPM CEP290 USB1 SOX11 UROS SVBP EBP LAS1L LIPN FIG4 SOS2 ST14 SLC1A4 MKKS CDK10 BBS5 HERC1 PRDM16 FBXL4 PIGY SLC45A1 PARN BBS4 SETBP1 MTX2 KIAA0586 TTC7A ADAT3 BANF1 KRT81 EXT1 BBS12 KRT86 TINF2 GNS TAF6 PRRX1 ATAD3A MED13L RLIM ZNF423 NF1 CTBP1 MESD MADD KAT6A VPS33A FAS FGFRL1 FLI1 LRP1 DOLK ELN GUSB TALDO1 TBX4 PPP2R3C PIGO APTX BCORL1 EDA2R TASP1 PHF6 HGSNAT SYT1 SDCCAG8 OTX2 HNRNPU GNE TFAP2B ABCA12 RIN2 KLHL7 ARX CSNK2A1 EBF3 TRAPPC4 BBS2 WNT4 CWF19L1 DCLRE1C HP_EPICANTHUS_INVERSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS_INVERSUS SIX2 COLEC11 KAT6B COLEC10 MASP1 PEX6 FOXL2 HUWE1 PPP1R12A EBF3 HP_ABNORMALITY_OF_REFRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REFRACTION SAG CLDN19 CLIP2 PIGW NFIX FKRP HTT AP3D1 PDE6H COL11A1 FOXL2 ELOVL4 CHD3 FBN2 IFT122 RAB28 KIDINS220 KIAA1109 RMRP KCNH1 NOG MAG BRCA1 FANCI SKI LOXL3 DPYD CHST14 VCAN GMPPB MLXIPL ABCC6 ARCN1 KANSL1 CREBBP MBD5 LARGE1 POGZ PPP2R5D LIG4 B3GALT6 NMNAT1 MAGEL2 AKT1 FBXW11 HDAC8 FKTN ADAMTS2 LAMB2 NSD1 MYO7A TBC1D24 CACNA1F KRAS GTPBP2 GTF2I CBS USF3 PIK3R1 ASXL1 FANCM COL2A1 ACTL6A GNPTG KIAA0586 WHRN BLOC1S3 C8orf37 FIBP BEST1 USH2A EP300 CNGA3 BPTF OVOL2 ALDH18A1 B3GLCT MIR140 SRCAP TBL2 FBN1 DOCK3 FAM111A IGF1 TRIM37 CHAMP1 COX7B DEAF1 MAN1B1 RP1 ARHGEF2 XRCC2 TRAPPC11 SMC1A ADNP LMX1B ADGRV1 SETD5 AGBL5 TCF4 COL18A1 OCA2 KCNE5 HERC2 CHM SYNE1 MYO5A RP2 LAMA1 POMGNT1 GPAA1 BRAF PWAR1 OAT MSX2 ERCC8 CRYBA2 LIMK1 GRK1 MPLKIP LTBP2 NTNG1 TCF20 BFSP2 CCDC47 POMT1 MIR184 ENPP1 COL1A2 CIB2 PDE6B SMARCAL1 ARL6 LOX SMS ATAD3A YME1L1 IFT52 ZNF408 PAX2 NPAP1 CRYBB2 BAP1 RAD51 CRIPT VSX1 PCYT1A YY1 SMC3 SNORD116-1 RAB11B POMT2 CENPT USP7 EPRS1 PCNT CHST6 RECQL4 EIF2S3 MARK3 HSPG2 MAP2K1 CRYBB1 TUBB4B PMM2 PGAP2 CHMP1A EIF2AK3 RPGR PRDM5 COL4A1 KMT2E TMEM94 FANCD2 IFIH1 NYX PDZD7 CDK8 CRYGD MKRN3 SNORD115-1 MADD TBC1D7 PDE4D CDC45 PCDH15 C1QBP COL3A1 MED25 LRIT3 SLC39A8 CNGB3 SHANK3 FLCN ERMARD B3GAT3 PSMD12 CRB1 BMP4 WDR19 ZEB2 AP1B1 PQBP1 RPL10 TWIST2 CTCF PTEN RS1 MAF KCNAB2 GJC2 GPR179 POLR3B POLR3A UBE3A C12orf57 ERCC4 ERCC2 STXBP1 TFAP2B EHMT1 ESPN CHRDL1 NONO CAMK2G GRM6 GTF2H5 ZSWIM6 UBE3B SLC25A24 RBM10 NSUN2 P3H2 ATP6V1A CABP4 CANT1 EXOSC2 FGD1 HACE1 IQSEC2 AEBP1 CSTA SLC35A2 TAF1 GJA8 GJA1 FANCC TRNT1 DAG1 KMT2C MAN2B1 WDR26 NDN TBC1D23 B4GALT7 PITX2 CTNNB1 NOTCH2 ZEB1 SDHB ELN PDGFRB PIGG B3GALNT2 KERA GABRD NT5C2 PRMT7 ARR3 ADAMTS17 ANTXR1 H1-4 HNRNPK NRAS GRHL2 UBE2T MYOC MC1R CCNQ WAC PRPS1 LRRC32 ATP6V1E1 ATP6V0A2 MAD2L2 PIGT CLDN16 WDFY3 RAD21 PPP1R12A KIF11 CSGALNACT1 FGFR3 RERE SNRPN KMT2B CPSF1 CACNA1G PGAP3 TYR RNF113A ERCC6 NDUFB11 ZNF469 ACSL4 GNB3 SH2B1 CRYBA4 OPN1MW USP9X MYT1L P4HA2 FLII ARID1B AMMECR1 SLX4 ELP1 TRMT1 FBXO11 SEC23B ACTL6B SLITRK6 WDR35 CLRN1 KAT8 PIK3CA RAI1 ANKRD11 FANCB ZNF644 PIEZO2 SOBP FLNA HADHA GTF2E2 MED13 GTF2IRD1 DNAJC21 POLR1C VPS13B KCNV2 RNU4ATAC COL4A3 TBCE THG1L TANC2 KLLN RFC2 PALB2 RRAS2 AHDC1 ZNF148 HARS1 GATAD2B ADAMTSL1 CDH23 XYLT1 DYRK1A KDM5C SLC39A5 KDM5B TULP1 ATP6AP1 TGM5 DDX6 CACNA2D4 COL9A1 ADAMTS10 GNAQ DSE LRP2 USH1C SMAD4 ZMIZ1 SOX5 TCTN2 PACS2 GLRB MFRP SDHD SON FOXP1 CNOT3 PTPN11 MED12L POMK RAD51C TRPM1 TMEM63A SLC2A10 GLE1 BCL11B PIGV PPM1D EXOC6B PIGL COL8A2 SETD2 EPHA2 EFL1 MBTPS2 FANCE CHST3 FGF3 CRYGC ADAMTSL4 PURA GNAT2 GZF1 RIN2 PLOD3 ACOX1 COL5A1 IRX5 TKFC TTC8 CHD4 MAP2K2 PHIP USH1G LCA5 BBS9 SF3B1 PACS1 INTS1 COL4A4 NIPBL ERCC3 CYP4V2 SLC24A1 XYLT2 NBAS SIN3A OPTN SLC6A8 EMC1 GNPTAB AGK TUB TRPV4 CASK PRSS56 OGT BBS1 BRIP1 NEUROD2 NR2F1 EED JAG1 MT-TS2 PIGQ P4HTM IFT43 PDE6C SVBP FKBP14 CEP78 ATRX LRPAP1 APC2 OPN1LW RHO SCO2 CCDC28B RPGRIP1 ZC4H2 HERC1 CC2D2A PRDM16 PIGY KMT2A COL9A2 TFAP2A SDHC COL9A3 TARS1 TEAD1 TMEM98 FANCF COL4A6 SATB2 DMPK SLC12A6 UCHL1 MED13L RLIM ATF6 GALNT2 COL12A1 HUWE1 NEK1 CYP1B1 CRYAA BRCA2 PWRN1 GPR143 PRIMPOL KAT6A RHOA COL4A5 MAP3K7 AFF4 CYSLTR2 PLOD1 CSPP1 PIGO BCORL1 BAZ1B GNAT1 TASP1 PUF60 DPF2 FANCL SYT1 HS6ST2 ERBB3 HK1 TRIT1 RFWD3 ALDH3A2 GNA11 SLC25A4 FANCG FANCA THOC6 VARS1 PIGU KLHL7 EBF3 TIMM8A ARSG RORA TRAPPC4 RAD50 HP_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETROPIA SAG CLIP2 PIGW NFIX CACNA1G PDE6H FOXL2 PGAP3 ERCC6 CHD3 KIDINS220 KIAA1109 RMRP NOG MAG IFT122 GNB3 USP9X FBXO11 KANSL1 CREBBP WDR35 MBD5 CLRN1 KAT8 POGZ NMNAT1 PIEZO2 SOBP NSD1 MYO7A GRK1 CACNA1F GTF2IRD1 GTF2I DNAJC21 RFC2 BLOC1S3 SETD5 BEST1 RRAS2 EP300 ZNF148 HARS1 GATAD2B CRB1 CNGA3 CDH23 DYRK1A KDM5C MAN2B1 SRCAP TBL2 TULP1 ATP6AP1 SNRPN FAM111A TGM5 CHAMP1 CACNA2D4 MAN1B1 USH1C SMAD4 ADNP TCTN2 PACS2 MFRP SON CNOT3 HERC2 MED12L SYNE1 TRPM1 SKI CTCF PWAR1 BCL11B PIGV MSX2 PPM1D ERCC8 LIMK1 PIGL GRM6 SETD2 CHST3 FGF3 CCDC47 GNAT2 CIB2 PDE6B LTBP2 MAGEL2 YME1L1 IFT52 NPAP1 PCYT1A YY1 SNORD116-1 RAB11B PHIP USH1G LAMA1 LCA5 CENPT EPRS1 PCNT MARK3 SLC24A1 PIGT TUBB4B NBAS SIN3A PGAP2 CHMP1A EIF2AK3 SLC6A8 EMC1 COL4A1 TRPV4 HNRNPK MKRN3 SNORD115-1 MADD PDE4D PRSS56 OGT PCDH15 NR2F1 COL3A1 MED25 SLC39A8 DDX6 MT-TS2 SHANK3 P4HTM IFT43 PDE6C CEP78 FLCN NYX ERMARD B3GAT3 APC2 WDR19 RHO RPGRIP1 ZC4H2 PQBP1 RS1 KCNAB2 PRDM16 PIGY GPR179 POLR3A EHMT1 ESPN TMEM98 POMT2 SATB2 DMPK CABP4 MED13L ATF6 FGD1 RPGR IQSEC2 NEK1 SLC25A24 CSTA PWRN1 RAI1 GJA1 KMT2C WDR26 NDN TBC1D23 B4GALT7 CTNNB1 CNGB3 PIGO BAZ1B GNAT1 ELN PDGFRB PIGG KERA GABRD TASP1 PUF60 DPF2 ATP6V1A SYT1 WAC PIGU FKTN CLDN16 PPP1R12A KIF11 ARSG RORA CSGALNACT1 PLOD1 RERE RAD50 LRIT3 HP_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DETACHMENT FKTN LRP5 FKRP SF3B1 NDP COL2A1 POMK COL11A1 PTPN22 XYLT2 POMGNT1 BCOR TEK PRDM5 LOXL3 CRPPA CHST14 TUB FLII PRPH2 VCAN TUBGCP6 LARGE1 ALDH1A3 LRP2 COL4A1 RXYLT1 IMPG1 GMPPB RAI1 CYP1B1 MYOC FZD4 CBS PAX6 IKBKG POMT2 PTEN ARL6IP6 RS1 HLA-A ATOH7 COL9A2 CAPN5 GNAQ POMT1 KIF11 ADAMTSL1 B3GALNT2 COL9A3 NHS CHRDL1 AKT1 DYRK1A FRG1 XRCC4 MIR140 P3H2 BEST1 IGFBP7 YAP1 DEAF1 COL9A1 DSE ALG12 BAP1 FAS CACNA1F LTBP2 COL18A1 NSMCE2 FBN1 CYSLTR2 PLOD1 TENM3 IMPG2 SIX6 DAG1 IQSEC2 PAX2 ZNF469 TSPAN12 ADAMTSL4 VHL GNA11 GZF1 MAF POMGNT2 ZNF408 B4GAT1 HP_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_PALLOR NDUFA11 KIAA1549 NDUFS4 DNM1L ZNF408 ACER3 HK1 NDUFAF1 ARL13B PIGB MMP19 ERCC6 MVK CLCC1 HARS1 TULP1 MAG LYRM7 ALMS1 PRPS1 NFIX TIMMDC1 CERKL NDUFV1 FOXRED1 USP45 COL4A1 PRPF4 MKS1 KCNJ13 NDUFS6 ARHGEF18 TUB PDE6G KCNC3 PDE6A TUBGCP6 ITM2B TMEM126B EXOC8 B3GALT6 NMNAT1 NDUFS1 NDUFS8 ZNF513 CNGA1 FLRT1 PMPCB PRPF31 OSTM1 PANK2 NDUFB10 HLA-A MT-ND2 BLOC1S3 CYP27A1 ELOVL1 AFG3L2 OPA3 NUBPL C8orf37 ARL2BP TPI1 MT-ND1 PEX1 MSTO1 MFF EYS DYRK1A MAN2B1 AIPL1 RBP3 NDUFB9 KLC2 COX7B NDUFAF8 IDH3B SPG7 NDUFAF4 GFM2 PRCD CYP1B1 ARHGEF2 ERCC8 NDUFS7 MERTK RTN4IP1 NGLY1 NDUFAF2 FAM161A INPP5E ATXN1 POMGNT1 RIMS2 CACNA1F MFSD8 RP1L1 COL18A1 GNAT1 TRNT1 NR2F1 TOR1A NDUFA1 SCAPER OPA1 CASK MT-ND3 ABCA4 NDUFAF5 TASP1 NDUFAF3 NDUFS3 GRID2 TMEM126A MYOC ESPN NDUFB11 BBS2 NDUFB3 MFN2 RTTN BEST1 FGF12 PLK4 PARS2 IMPDH1 CNNM4 AIFM1 CLCN7 NDUFA6 PISD NDUFV2 MT-ATP6 SNRNP200 IFT172 MAK LRAT NDUFS2 UBE3B HP_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_OPHTHALMOPLEGIA NUTM2B-AS1 RRM2B SALL4 LYRM7 SDHD MTMR14 OPA1 POLG TUBB3 SLC25A4 NDUFAF2 MT-ND1 PHOX2A ACADS MT-TL1 TK2 MT-TF C1QBP VARS2 TWNK MT-TL2 DGUOK TOP3A MT-TK MT-CO3 MFF MT-TE SLC52A3 MT-TQ ATXN3 KIF21A MYF6 MT-CO1 RYR1 RNASEH1 MGME1 MT-ATP8 DNA2 MT-TS2 TYMP FRG1 MT-ND5 POLG2 LRP12 MT-TN MYF5 MT-TT SDHAF1 MT-ND6 APTX SDHA DNM2 STIM1 MTM1 SLC19A3 MT-TW STUB1 MT-TH FA2H MT-ND4 SDHB BIN1 GIPC1 HPDL SCN4A MT-CO2 HP_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPIA SAG CLDN19 CLIP2 NFIX FKRP HTT PDE6H COL11A1 ELOVL4 FBN2 IFT122 RAB28 RMRP KCNH1 FANCI SKI LOXL3 DPYD CHST14 VCAN GMPPB ABCC6 ARCN1 MBD5 LARGE1 POGZ PPP2R5D LIG4 B3GALT6 MAGEL2 AKT1 HDAC8 FKTN ADAMTS2 LAMB2 TBC1D24 CACNA1F KRAS GTPBP2 GTF2I CBS USF3 PIK3R1 ASXL1 COL2A1 GNPTG KIAA0586 WHRN BLOC1S3 C8orf37 USH2A CNGA3 BPTF ALDH18A1 B3GLCT MIR140 TBL2 FBN1 IGF1 COX7B DEAF1 RP1 TRAPPC11 SMC1A ADGRV1 SETD5 AGBL5 TCF4 COL18A1 OCA2 KCNE5 HERC2 CHM MYO5A RP2 LAMA1 POMGNT1 GPAA1 BRAF PWAR1 OAT MSX2 CRYBA2 LIMK1 GRK1 MPLKIP LTBP2 BFSP2 POMT1 ENPP1 COL1A2 PDE6B SMARCAL1 ARL6 LOX SMS ATAD3A YME1L1 ZNF408 PAX2 NPAP1 CRYBB2 CRIPT PCYT1A SMC3 SNORD116-1 POMT2 USP7 RECQL4 EIF2S3 HSPG2 MAP2K1 CRYBB1 PMM2 CHMP1A RPGR PRDM5 COL4A1 TMEM94 IFIH1 NYX PDZD7 CDK8 CRYGD MKRN3 SNORD115-1 MADD TBC1D7 CDC45 LRIT3 CNGB3 PSMD12 BMP4 WDR19 ZEB2 AP1B1 RPL10 TWIST2 PTEN MAF GJC2 GPR179 POLR3B POLR3A UBE3A C12orf57 ERCC2 TFAP2B NONO CAMK2G GRM6 GTF2H5 ZSWIM6 UBE3B RBM10 NSUN2 P3H2 ATP6V1A CABP4 CANT1 EXOSC2 HACE1 AEBP1 NSD1 TAF1 GJA8 GJA1 TRNT1 DAG1 MAN2B1 WDR26 NDN NOTCH2 SDHB ELN B3GALNT2 NT5C2 CTNNB1 ARR3 ADAMTS17 ANTXR1 HNRNPK NRAS MYOC CCNQ WAC PRPS1 LRRC32 ATP6V1E1 ATP6V0A2 CLDN16 RAD21 FBXW11 KIF11 FGFR3 SNRPN CPSF1 TYR RNF113A NDUFB11 ZNF469 ACSL4 GNB3 SH2B1 CRYBA4 OPN1MW USP9X P4HA2 FLII ARID1B AMMECR1 ELP1 SEC23B SLITRK6 WDR35 PIK3CA RAI1 ANKRD11 ZNF644 HADHA GTF2E2 GTF2IRD1 DNAJC21 POLR1C VPS13B KCNV2 COL4A3 THG1L KLLN RFC2 AHDC1 ADAMTSL1 XYLT1 DYRK1A KDM5C SLC39A5 KDM5B TULP1 CACNA2D4 COL9A1 ADAMTS10 DSE LRP2 SOX5 PACS2 GLRB TCF20 SDHD SON PTPN11 MED12L POMK TRPM1 TMEM63A SLC2A10 GLE1 BCL11B EXOC6B SETD2 EPHA2 EFL1 MBTPS2 IQSEC2 CRYGC ADAMTSL4 PURA GNAT2 GZF1 RIN2 PLOD3 ACOX1 COL5A1 IRX5 RERE TKFC TTC8 MAP2K2 PACS1 COL4A4 NIPBL ERCC3 CYP4V2 SLC24A1 PIGT XYLT2 NBAS OPTN EMC1 AGK TUB CASK BBS1 NR2F1 EED MYO7A JAG1 P4HTM IFT43 PDE6C FKBP14 ATRX LRPAP1 APC2 OPN1LW RHO SCO2 CCDC28B HERC1 KMT2A COL9A2 TFAP2A SDHC COL9A3 TARS1 TEAD1 MC1R COL4A6 SLC12A6 UCHL1 MED13L ATF6 COL12A1 HUWE1 CYP1B1 CRYAA PWRN1 IFT52 PRIMPOL KAT6A RHOA COL4A5 AFF4 PLOD1 CSPP1 BAZ1B GNAT1 PUF60 HS6ST2 ERBB3 TRIT1 ALDH3A2 SLC25A4 THOC6 VARS1 GPR143 KLHL7 TIMM8A HP_RETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DEGENERATION KIAA1549 SPG11 CFH ARV1 TRAK1 PDE6H GUCY2D MCOLN1 COL2A1 FBLN1 RNF113A NTRK2 ERCC6 MAPKAPK3 RLBP1 TNFRSF11B GABRG2 WWOX ALMS1 C1QTNF5 ATXN7 SLC1A2 RAX2 PRPF4 MYT1L MMACHC VCAN CP POMK ABCC6 BBS4 TRMT1 ACTL6B GABRB2 SUMF1 NECAP1 PRPH2 FBXW11 TOPORS ABCA4 DLAT SLC7A14 GTF2E2 MED13 PITPNM3 CFAP410 SZT2 CEP164 SCN8A PRPF31 TMEM67 CTSD KCNV2 POMT2 ACTL6A STXBP1 TANC2 HLA-A ELOVL4 WRN C8orf37 BEST1 CDH3 CNGA3 MTTP ASAH1 AIPL1 CLTC SLC19A2 GABRA2 TULP1 DOCK3 DDX6 OPA1 HMCN1 RPGRIP1 MIR204 CNGB3 APOB MFRP HCN1 CDK19 CST3 GNB5 SYNGAP1 LAMA1 GUCA1A POU3F4 XYLT2 ATP6V1A SAG SCAPER DHX38 BBS2 GRK1 MPLKIP SIX6 HGSNAT DRAM2 CFHR1 MICOS13 NTNG1 TCF20 SCN3A POMT1 APOE KCNA2 COL18A1 GNAT2 HSD17B10 CACNA1A ARL6 PRPF8 TTC8 SEMA4A YWHAG ZMIZ1 CLN6 MAB21L1 FKTN RHO BBS9 ANO10 HK1 ERCC3 TTC21B CYP4V2 RDH5 CLCC1 FGF12 PROM1 TUBB4B CNGB1 IFT172 RPGR CEP78 FBLN5 USP45 KMT2E PNPLA6 RBP4 KCNB1 GNPTAB ALDH3A2 TUB CFHR3 BBS1 PANK2 STUB1 CRX AARS1 ZFYVE26 PDE6C DALRD3 SVBP GRIN2D CCDC28B PPP3CA GUCA1B RS1 SDCCAG8 AP3B2 ATF6 WDR19 ERCC2 ARL2BP TARS1 LZTFL1 CLN3 LARGE1 SYNJ1 IDUA GTF2H5 NUS1 SLC13A5 TPP1 MAN2B1 RLIM RP9 IDH3A PPT1 XYLT1 CLN5 FBN2 SH3BP2 GBA IFT140 PRCD BPTF ERCC8 MERTK RDH11 CTNNB1 CYFIP2 NR2E3 TRNT1 PEX7 UBA5 PSMD12 CACNA1B ZNF423 CNKSR2 ARSG BCORL1 GABRA5 LMNA EEF1A2 PAX2 PARS2 CFI PLK4 IMPDH1 CWC27 NRL EFEMP1 DNM1 WDFY3 PISD FKRP PHYH REEP6 TRAPPC4 TRAF3IP1 SNRNP200 POMGNT1 DHDDS HP_CONE_CONE_ROD_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_CONE_ROD_DYSTROPHY AIPL1 ABCA4 PROM1 PDE6H RIMS1 SLC19A2 CACNA2D4 GUCY2D PITPNM3 RAX2 PCYT1A ADAM9 RAB28 KCNV2 SEMA4A RPGRIP1 NGLY1 ALMS1 ATXN7 CACNA1F PDE6C CNNM4 C8orf37 POC1B TTLL5 GUCA1A LZTFL1 CDHR1 CRX HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT LYST KDM1A KDM6A CLIP2 NDUFS4 CCDC174 NDUFA4 UBR1 UNC80 PUF60 FKRP NDUFA13 CDH11 SOX4 MCOLN1 NALCN GNB1 YY1 FOXL2 SYNE1 ARMC9 AP4M1 CHD3 ADGRG1 LARS2 ATRX PRMT7 SETX RMRP LYRM7 MAP3K7 SHANK3 SLC9A6 BRCA1 ZIC1 ACOX1 NDUFV1 SIX3 SPATA5 KCNA1 XPC DDB2 MTOR EOGT THOC2 ATP13A2 B9D1 PHOX2A NOTCH1 KANSL1 CREBBP PIGQ NEDD4L POGZ FGFR2 PAK1 LIG4 SIK1 MAGEL2 NPC2 HDAC8 FRMPD4 ALG6 SNRPN DISP1 FMR1 RIC1 SBF1 NSD2 DHCR7 ASXL1 FANCM ADA2 KATNIP KIF21A NSUN2 ACTL6A ERMARD SEC23A KIAA0586 ERF NDN NDUFA12 NODAL VPS13A FIBP ALG3 SYT2 CHN1 EP300 GLI1 OFD1 PDHA1 ALDH18A1 DNMBP BRF1 TBL2 ALG9 CHAMP1 DEAF1 ADPRS GALC XRCC2 SOS1 GP1BB GAS1 CHAT ADNP LMX1B CCNQ SETD5 NELFA TCF4 TMEM237 KCNE5 HERC2 MYOD1 SALL4 PYCR2 MYO5A FBN1 WDR81 LAMA1 MAPT ORC1 NDUFA1 TTI2 ERCC1 ERCC8 LIMK1 SIM1 VAMP1 GRK1 NHLRC2 SCN1B FOXG1 ALG11 PTPN11 GJB6 AHI1 COL18A1 PDE6B DHX37 C12orf65 SLC44A1 LPAR6 GMNN SPECC1L PITX2 ATAD3A LAGE3 PAX2 NPAP1 SPTBN2 SIL1 RPS15A HPDL NDUFA9 RET RAD51 GFPT1 POMGNT1 SMC3 KIF7 SNORD116-1 SLC18A3 CHRNG CHRNE SHH NDUFAF1 IGF1R MN1 RECQL4 GMPPA HSPG2 NCAPG2 FOXE3 TUBB3 SIN3A PGAP2 SLC6A19 CHMP1A TMEM216 POMT1 COL4A1 KMT2E FANCD2 COMT HRAS CDK8 FA2H MKRN3 SNORD115-1 MADD COL6A3 RPL11 CLCN4 RPS19 C9orf72 KLF13 TUBGCP6 ALX3 MED25 LRIT3 GMPPB MCM3AP CTDP1 TCTN1 PTCH1 FBXL3 SHROOM4 GDF5 NYX L1CAM HLA-DQB1 NTNG2 CRB1 NDUFAF6 HECW2 TGFBI ALX4 DLL1 UBE3A SMARCD1 PQBP1 AP4S1 RPL10 FGFR3 DCN RPS10 EXOSC3 TACO1 MAP2K1 SLC16A2 TWIST1 L2HGDH DYNC2LI1 OPA1 SYNJ1 ERCC2 AP4B1 GBA NHS EFNB1 AKT1 NONO SLC38A8 IL1RAPL1 DNM1L TARDBP GTF2H5 NDUFV2 UBE3B AMMECR1 FOXC1 CABP4 DCTN1 HACE1 OCA2 IQSEC2 AEBP1 LGI4 CEP120 TCF12 PLA2G6 SLC19A3 NSD1 TAF1 RPS28 GJA1 FANCC KMT2D DDX3X PSMD12 METTL5 ARID1A RRAS CTNNB1 OPHN1 PIBF1 TENM3 ZEB2 TRIP11 FGF14 ELN GATA4 STAG1 CACNA1A SPOP RIT1 SMARCC2 RPL5 DPAGT1 WAC LRRC32 ZC4H2 LIPH ATP6V0A2 ERCC4 ATP8A2 MAD2L2 COG8 TBL1XR1 KIDINS220 CLDN16 NAGA WDFY3 PPP1R12A FBXW11 NKX6-2 PAX6 TRAPPC6B RERE TMCO1 KCNMA1 NDUFA11 TET3 CACNA1G CCDC88C PGAP3 RNF113A ERCC6 HOXA13 NDP ACO2 FTL RRAS2 TIMMDC1 CD96 CSPP1 PAX3 MKS1 USP9X MYT1L NDUFS6 NUP133 UFD1 PIGL VPS53 ROBO3 SLX4 NANS TRMT1 FBXO11 ACTL6B KAT8 RAI1 SRCAP CACNA1B ANKRD11 POLR2A FUS HMGB3 PEX5 PIEZO2 DLAT VSX1 HIBCH MED13 FAM149B1 GTF2IRD1 DLK1 SALL2 KCNV2 AP4E1 IKBKG THG1L RPL15 RFC2 PALB2 DPP6 ATOH7 TRIP12 PDE6D PEX13 SLC25A46 AHDC1 SLC2A1 GATAD2B TGFBR2 EZH2 DYRK1A ABCB7 ATR PMM2 DDX6 CACNA2D4 KIAA0753 TMEM138 ZMIZ1 SMARCE1 GATA1 BCAP31 GLRB TCTN2 KDM6B SON FOXP1 CNOT3 SUFU EXT2 LBR AGTPBP1 NR2F1 CDH2 PTRH2 SSR4 MCTP2 CAMK2A BEST1 STRADA SMAD3 ABHD5 CEP41 SHOC2 COL8A2 SETD2 CDK13 ADAT3 PLPBP DHX30 FANCE CHST3 KRT71 FGF3 NDUFS3 NEUROD2 CYB5R3 CPLANE1 SATB2 KDM5C LIPT1 FGFR1 GK INPP5K FAM50A JMJD1C TKFC CDCA7 CBL PTCH2 TLK2 ADSL RPL27 PHIP PEX14 ZIC2 NRXN1 INTS1 ERCC3 ABCC8 TRPM1 RSPRY1 SLC25A1 ASCL1 FANCA SREBF1 SLC24A1 UBA1 MAB21L2 KRAS COL11A2 NSDHL ARNT2 CASK PRSS56 SARDH TRIM8 PORCN VLDLR ERCC5 P4HTM SOX11 NDUFS1 CAMK2B SVBP RTL1 NDUFS8 MTFMT CHRNA7 CCDC28B SLC13A5 NIPBL RPL35A SLC17A5 PEX3 PRDM16 GJC2 PIGY SOX5 RPS7 GRIA4 TFAP2A SLC39A8 DNMT3A ERLIN2 TARS1 TMEM98 COX15 FANCF CENPJ NDUFB9 PPP2R5D MYH3 PEX16 SLC12A6 ATP2B3 YAP1 PLXND1 PHGDH NPHP1 RLIM PHOX2B ARX ZNF423 NDUFAF4 CA8 NDUFS7 CHD7 TSEN15 ARVCF ACOX2 DACT1 PRNP ATM TCOF1 FLI1 ZBTB16 TOR1A COL6A1 SYT1 HPS5 AFF4 POLR3A PIK3R5 PIGO NFIX BAZ1B MYO9A GNAT1 BRAF FANCL WARS2 NGLY1 SALL1 PUS3 TRIT1 TMEM126A EVC2 KIF14 SLC25A4 POLR1D HNRNPU TMEM231 FRMD4A TFAP2B NPC1 PIGU GPR143 FKTN KLHL7 DKC1 PAH TRAPPC4 CLDN19 FARS2 PLOD1 DPM1 RBM8A SAG HSPD1 PIGW HHAT SQSTM1 AP3D1 CRYAA NEXMIF TBX1 KIAA1109 WNT5A ARID2 PRPS1 BCOR TSR2 FCSK SKI CHST14 MED13L BPTF MLXIPL SLC35C1 VCP CYB5A MBD5 LARGE1 DGUOK CPLX1 SPG7 COL12A1 OCRL NUBPL SEC24C LAMB2 RBPJ TBC1D24 MEG3 DLG3 CACNA1F PET100 NEU1 GTF2I MPDU1 TMEM67 NDUFB10 MT-ND2 BLOC1S3 EVC GNAQ PLK4 SEMA3E CLTCL1 COL11A1 AP1S2 OVOL2 SOS2 TELO2 DOCK3 AUTS2 TRIM37 CC2D2A INPP5E MYF5 ARHGEF2 SLC25A22 TBK1 TRAPPC11 SMC1A NDUFAF2 ARHGAP31 SNAP25 WDR26 DHCR24 PWAR1 PEX19 TRIO SHMT2 MT-ND3 ADD3 CNTNAP2 MPLKIP PEX1 NDUFAF3 IRF2BPL NTNG1 TCF20 SIGMAR1 UBE2A COL1A2 AGRN SNIP1 RNASEH1 ARL6 CEP83 YME1L1 MRAS NDUFA6 FZD2 CAMTA1 CRIPT CEP104 CDKL5 MAB21L1 RAB11B PEX2 TREX1 RPGRIP1L LARP7 POMT2 SURF1 USP7 TYRP1 POLR1C EIF2S3 DPF2 GLRX5 PROKR2 ECHS1 LETM1 FOXRED1 GRM1 COL13A1 TMEM94 KCNJ13 ASXL3 COG5 PEX11B ALS2 PDE4D CDC45 WDR73 TMEM126B TGFBR1 B3GAT3 NOP56 LEMD3 HOXB1 AHCY SCN2A CTCF COLEC11 KCNAB2 BCL11A GPR179 DMXL2 LONP1 YARS2 ANTXR1 STXBP1 GTF2E2 HSD17B4 GNAO1 APC ATP6V1A EXOSC2 SOX3 DDOST KAT6A FGD1 IDH3A COQ8A CDC42 COL6A2 RPS24 OSGEP SLC35A2 MACF1 DPM2 CDON NDUFS2 TBC1D23 SDHA RPL18 PEX6 ZEB1 TGFB3 GABRD BCORL1 PBX1 NDUFAF5 H1-4 GRHL2 UBE2T ADARB1 PHF21A ELOVL4 POLG ATP6V1E1 MID2 PIGT TCTN3 LRPPRC HESX1 RAD21 SMARCB1 B3GALNT2 TRAF3IP1 NDUFA2 RNF135 RPS6KA3 TYR CDH3 NDUFB11 REV3L ACSL4 GNB3 NRAS RASA2 SH2B1 KRT25 DOCK6 FLII ARID1B NAXE KIF15 MAPK8IP3 NDUFA10 SGPL1 FANCB NOG SOBP MRPS34 HADHA ZSWIM6 VPS13B GRIN1 SLC9A7 RREB1 PTEN TANC2 RPL35 PURA TBCK RPL31 HIRA VPS51 HPS6 MT-ND1 PNKP MEF2C MAN2B1 TGIF1 FIG4 KDM5B A2ML1 FANCI DDHD2 MAFB GLI2 DSE RAF1 SMAD4 MED12 PIGN FGF8 PEX10 PACS2 CHCHD10 RPL26 SCN8A CLP1 SMARCA4 MED12L ARL13B POMK RAD51C KRT74 DVL3 POU3F4 SLC2A10 MFRP SLC5A7 XPA PIGV TUBB2B PPM1D ATXN1 GRM6 OTX2 ALDH7A1 GGCX RAB39B GRID2 DVL1 SCO2 NDUFB3 PRKAR1A HYLS1 MAP2K2 FLNA DLL4 BBS9 PACS1 CEP152 TBX15 TWNK SOST NBAS SLC6A8 EMC1 NXN AGK PIGP RPS17 KCNC3 DAB1 NF1 GGT1 BBS1 BRIP1 TAF2 EXOC8 JAG1 MDH2 PEX26 GNA14 CYP1B1 BRPF1 DCC HOXA1 APC2 RHO AP3B1 SUCLA2 DHODH KMT2A SLC25A24 PNPLA6 MC1R WASF1 PEX12 GALNT2 IARS2 HUWE1 CTBP1 BRCA2 ZDHHC9 MPDZ PWRN1 ROR2 ARL3 RHOA FGFRL1 RPS26 TUBGCP4 SPG11 TDGF1 RPS29 TBX4 GNAS DLG4 TASP1 FOXH1 HK1 LZTR1 ACADSB RFWD3 NDUFAF8 FANCG TWIST2 SOX2 TANGO2 PRSS12 RRM2B CACNA2D2 RPS27 EBF3 CEP290 RORA HP_UNDETECTABLE_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_ELECTRORETINOGRAM CRX PROM1 KIZ LCA5 MYO7A TPP1 CRB1 FLVCR1 NRL NR2E3 USH1C PPT1 PRCD RPGRIP1 CLCC1 TULP1 PDE6D CLN3 LRAT EYS POMGNT1 HSD17B4 HP_COLOR_VISION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOR_VISION_DEFECT SAG RLBP1 DNM1L VPS13C ANOS1 PDE6H GUCY2D DCC UCHL1 SLC24A1 DRAM2 PROM1 NBAS PODXL GNB3 CHD7 SEMA3A LRRK2 FGF17 RPGR CEP78 PDE6C OPA1 POLG OPN1MW RAB28 PROKR2 PRPH2 FA2H TTLL5 CACNA1F IL17RD CRX FEZF1 IMPG1 ADAM9 CNGB3 PINK1 GUCA1A CNNM4 GRK1 NYX PITPNM3 OPN1LW CFAP410 ACO2 RPGRIP1 HTRA2 RHO DNAJC6 WDR11 ABCA4 ELOVL4 GPR179 ATF6 AFG3L2 SEMA4A GNAT2 RIMS1 CNGA3 SYNJ1 NSMF TK2 BEST1 TULP1 CABP4 CACNA2D4 NMNAT1 FGF14 SOX10 HESX1 OPN1SW UNC119 NR2E3 POC1B FGFR1 TRPM1 RAX2 CDHR1 TACR3 FGF8 OPA3 IMPG2 OFD1 GNAT1 FLRT3 CCDC141 DUSP6 GRM6 SPRY4 C12orf65 TIMM8A TMEM126A NDNF PROK2 SNCA MFN2 PDE6B PRKN C8orf37 MTTP HS6ST1 PARK7 PCYT1A MORC2 AIPL1 KISS1R LRIT3 HP_TRITANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRITANOMALY OPN1SW OPA1 NR2E3 OPA3 DNM1L GUCY2D HP_ABNORMAL_UVEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UVEA_MORPHOLOGY LYST NOD2 CLDN19 CLIP2 WT1 SALL4 HHAT FKRP AP3D1 GUCY2D FBLN1 ARMC9 MAPKAPK3 CRYAA PEX5 SLC25A15 BTRC RB1 PRKG1 HLA-DRB1 TMEM231 BRCA1 FGFR1 BCOR IGBP1 SIX3 PAX6 BTNL2 PAH DIS3L2 RPGRIP1 CCDC22 PRPH2 VCAN MLXIPL LARGE1 B9D1 BCL10 PEX6 CEP55 SOX10 RAB27A GNAQ POGZ FGFR2 PDCD10 SLC45A2 ITPR1 MAGEL2 CPLX1 ALG2 PEX2 OCRL MT-TK MYO7A SNRPN DISP1 TYR COX7B DLX6 MT-TE KCTD1 GTF2I KIFBP NSD2 PIK3R1 NDUFB11 SMAD3 FANCM TMEM67 NDE1 KATNIP RSPO2 CLCNKB ABCA4 ERF NDN PRKCD WHRN BLOC1S3 TUBGCP4 NODAL PTCH2 ALG3 USH2A SEMA3E PDE4D B3GALNT2 COQ2 OVOL2 FBN1 MYLK SNAI2 EYS TMEM107 B3GLCT TBL2 TBR1 TFAP2A SEM1 CC2D2A PEX26 INPP5E XRCC2 GAS1 PEX13 IL2RA ADGRV1 NELFA EPS15L1 TMEM237 OCA2 HERC2 MKS1 RP2 NF1 XYLT2 ACTB C12orf57 POMT2 PWAR1 OAT AGXT ERCC1 LACC1 IMPG2 LIMK1 MFAP5 EDNRB TRIP13 NLRP1 LDHD DNASE1L3 RASGRP1 SLC25A11 SALL1 AIRE VSX2 PNPLA6 DLX5 GATA1 KANSL1 MIR184 AHI1 TRIM28 FAM111A ADAMTS18 CIB2 TGFB2 PTCH1 LTBP2 GPC3 LPAR6 PITX2 MALT1 PEX3 RBP4 IL2RB DHCR7 ZNF408 NPAP1 CRYBB2 BAP1 NDP BLM RAD51 RPE65 PCYT1A CEP104 SNORD116-1 PEX14 PHOX2B STAT4 RPGRIP1L SHH HCCS GMPPA MAT2A TYRP1 IGF1R FOXC1 POMK TKT PAX3 POLR1C TMEM216 PTPN22 CRYBB1 CSPP1 TRAPPC11 MIF LETM1 DTNBP1 COL4A1 FANCD2 PDZD7 TSC2 MITF CRYGD MKRN3 SNORD115-1 AAAS VHL EDN3 WDR73 NLRP3 PCDH15 ALX3 ASPH GMPPB MPZ SMCHD1 TCTN1 STIM1 ENPP1 TCTN2 BLOC1S6 MT-TL1 CRB1 BMP4 ZEB2 DLL1 SOS1 UBE3A PEX10 PTEN MAF KCNAB2 BRCA2 MBTPS2 CAPN5 TP63 SDHB ERCC4 ELP4 FOXE3 SRD5A3 ESPN CHRDL1 KIT AKT1 GDF3 TNFAIP3 UBE3B MAX WNT3 XYLT1 FBN2 ABCC6 CEP120 BEST1 MSH6 CD27 POMGNT1 GJA8 GJA1 FANCC CHN1 TNFRSF1A CDON SDHC NOTCH2 ZEB1 PIBF1 DLST PRKAR1A TENM3 SOX2 TGFBR1 ELN LOX GABRD ATP6V1A AMACR DAG1 ADAMTS17 CPAMD8 WNT10B GRHL2 UBE2T EPG5 MYOC MC1R WAC ERCC6 LIPH MAD2L2 NRL HLA-B KIF11 TCF4 RERE ERCC8 KIF1B FOXP1 PEX11B FKTN MYH11 IL6 FLNA SMO TGFBR2 KRT25 CRYBA4 FAS HPS4 MAPK1 ACTA2 SLX4 ELP1 TUBGCP6 RXYLT1 PTPN2 CLRN1 SMAD4 IMPG1 FANCB ACVRL1 HADHA VSX1 NOTCH3 SDHAF2 GTF2IRD1 FH SALL2 VPS13B NAA10 IKBKG HLA-A ELOVL4 RFC2 PALB2 NRAS LOXL1 ATOH7 ANK1 POMT1 ROM1 HARS1 CRPPA HPS6 ADAMTSL1 GPR143 PEX1 CDH23 HPS1 LAMB2 TGIF1 FANCI MAFB GLI2 HMCN1 LRP2 WASHC5 KITLG USH1C TMEM138 CASP10 SAG FGF8 CNGB3 CHD7 SIM1 SUFU ADAMTSL4 BDNF MED12L ARL13B RAD51C KRT74 POU3F4 H19 KRAS REST SKI MFRP ANKRD55 CD247 SDHA CEP41 COL8A2 SIX6 EPHA2 CFHR1 FANCE KRT71 TRIM44 POU6F2 MYO5A ROR1 CHM TBX2 APOE CRYGC GZF1 COL3A1 CEP290 TBX22 HYLS1 CPLANE1 FASLG SDHD MST1 USH1G ZIC2 SF3B1 PEX12 CYP4V2 KRIT1 SIN3A RET MAB21L2 FBLN5 MMP2 PEX19 CASK IDS VPS35L PRSS56 CFHR3 BRIP1 STUB1 PORCN ATP10A CRX JAG1 DDX6 MT-TS2 GUCA1A TMEM127 CEP78 SLC24A5 ACTG1 CLCN2 AP3B1 PROM1 ARL6IP6 FSCN2 B9D2 PRDM16 LRBA TGFB3 PEX16 KIAA0586 GPR35 TEAD1 TMEM98 CENPF FANCF UROC1 MMP14 YAP1 NPHP1 MLPH ZNF423 MDH2 EP300 RNF216 CTBP1 CYP1B1 MPDZ DACT1 PWRN1 WDPCP ARL3 RHOA FGFRL1 TINF2 FLI1 LRP5 TSC1 CREBBP ADNP DYRK1A HPS5 TDGF1 CYSLTR2 HRAS FGF3 TCOF1 BAZ1B LMX1B PUF60 DHX16 FANCL FOXH1 DPP6 PAX2 RFWD3 GNA11 FANCG POLR1D CCM2 CFI FANCA POMGNT2 BIRC3 B4GAT1 ARSG HP_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEITIS NOD2 FOXP1 MST1 TNFAIP3 IL6 ERCC4 TKT PTPN22 CASP10 NLRP3 HLA-DRB1 MIF IL2RA FAS CD27 BTNL2 TNFRSF1A ERCC6 BCL10 STUB1 PTPN2 ERCC1 LACC1 ANKRD55 CD247 IKBKG NLRP1 DNASE1L3 RASGRP1 MBTPS2 AIRE ERCC8 PRKCD LRBA MALT1 IL2RB ATOH7 CAPN5 BIRC3 HLA-B BLM TCF4 GPR35 STAT4 FASLG HP_RETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSTROPHY SAG RLBP1 CACNA2D4 ABHD12 GUCY2D NPHP1 MAPKAPK3 RSPH4A IFT122 RAB28 PEX19 PRPS1 TMEM231 BCS1L TRAF3IP1 ATXN7 ACOX1 PRPF4 ROM1 BBS12 SLC19A2 LARGE1 BBS4 CCDC114 POGZ OFD1 TOPORS USH1C PCDH15 MT-TK PEX1 CCDC103 PITPNM3 CACNA1F CNGA1 MT-TE PRPF31 CCNO CTSD PEX10 WARS2 KIAA0586 LRRC6 WDR19 KIF3B C8orf37 MT-TV TTLL5 GNAT1 NEK10 B3GALNT2 CCDC65 GATA3 MYO6 EYS AIPL1 PROM1 TELO2 RSPH1 TIMP3 GAS2L2 GAS8 CC2D2A DDR2 MT-ND1 RP1 RPGRIP1 NGLY1 INPP5E DNAL1 MFSD8 DNAH9 PEX6 TMEM237 PEX13 NEK2 MYO5A CHST6 CDH3 RP2 LAMA1 GUCA1A POMT2 DNAI2 DHX38 ASPA GRK1 HGSNAT DNAAF1 CEP290 PNPLA6 DNAH1 BBS2 PDE6B BBS7 ARL6 RDH11 MYO7A MT-ATP6 ALMS1 ATXN2 BBIP1 PCYT1A SEMA4A IFT172 PRPF6 PEX11B MAK DNAAF3 RP1L1 PEX12 POMK DNAAF5 PGK1 MVK COQ2 PMM2 BBS5 KLHL7 PDE6C RBP4 PANK2 NYX ARL2 PDE6G PDE6A CFAP410 TTC8 COL4A1 PEX7 LRIT3 MT-TL1 TMEM216 LRAT BMP4 MT-ND2 RPL10 GUCA1B SPEF2 EXOSC3 TMEM138 GPR179 ACBD5 FLVCR1 PRPH2 IQCB1 RSPH9 LZTFL1 BBS10 AHI1 DNAAF2 GRM6 ARL3 UBE3B PDE6H RIMS1 MT-TW CABP4 EXOSC2 CLRN1 RP9 INVS TTC25 HACE1 ERCC8 CEP120 NDUFB11 RCBTB1 ARMC4 FAM161A PDZD7 POMGNT1 ARV1 DAG1 MT-ND5 CIB2 RNF113A FDXR TRNT1 RBP3 FKRP POMT1 SLC24A1 CCNQ IFT27 IMPDH1 HCCS SDCCAG8 CWC27 NRL EFEMP1 CCDC39 DNAI1 PHYH REEP6 TRAPPC9 SNRNP200 NME8 FKTN MT-ND4 RPGR ERCC6 ACO2 WHRN CCDC151 GNB3 C1QTNF5 PEX5 RHO HMX1 TUBGCP6 RXYLT1 SLC7A14 ZNF513 SRD5A3 ZMYND10 DNAJC21 ARMC9 VPS13B KCNV2 DHDDS DNAAF6 PRPF3 CFAP298 ANK1 CRB1 NDUFA9 KIF5A CRPPA STK36 PEX14 DNAAF4 IFT140 PGAP1 SYCE1 TULP1 CRX TMEM67 ELOVL4 RPE65 PCARE LRP2 CEP164 DNAH11 ADGRV1 APOB MFRP IMPG1 PEX26 POC1B IMPG2 TRPM1 RNU4ATAC CDHR1 USH1G ABCA4 MT-ND6 CEP41 SIX6 DRAM2 GGCX ADAM9 DYNC2I2 BEST1 RPGRIP1L NPHP3 FOXJ1 PRPF8 SPAG1 SH2B1 BBS9 CFAP300 ZNF408 DNAH5 RAX2 MKS1 OTX2 SLC35A2 HSD17B10 CNGB1 CERKL KIZ CCDC40 HYDIN TUB ITM2B BBS1 MDH2 LRRC56 RDH12 CCDC28B CFAP221 FSCN2 DRC1 CRYAB IFT74 FGFR2 PEX16 AP3B2 KIF11 ARL2BP CDH23 CLN3 PEX2 TTC12 COX7B IDH3B ZNF423 NEK1 PRCD EP300 RNF216 MERTK PEX3 USH2A NR2E3 CREBBP NPHP4 HSPD1 AHR CSPP1 PPP2R3C MKKS RGR RDH5 HK1 GRN DNAJB13 MCIDAS CNNM4 MT-ND3 MTTP POMGNT2 RSPH3 B4GAT1 CLDN19 HP_BUPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUPHTHALMOS POMT2 FKTN DAG1 OCRL GLIS3 CYP1B1 ATOH7 FUT8 TWIST1 FKRP POMT1 PXDN ADAMTSL1 SH3PXD2B FGFR2 NCAPG2 MAB21L1 GNAQ AKT1 LARGE1 PTEN POMGNT1 HP_RIEGER_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIEGER_ANOMALY FOXC1 CPLX1 FGFRL1 NSD2 PIK3R1 ADAMTSL1 CTBP1 PITX2 LETM1 PAX6 IGF1R HP_CORNEAL_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_SCARRING PRDM5 UROS TGFBI NTRK1 PRDM12 EP300 GJB2 CREBBP COL7A1 DST ZNF469 NCAPG2 NGLY1 MMP1 POLA1 HP_LACRIMAL_DUCT_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_ATRESIA TP63 NDUFB11 PAX3 IGSF3 SMCHD1 HP_CHORIORETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_COLOBOMA CLDN19 RPGRIP1L SALL4 HHAT BCOR TMEM67 CC2D2A YAP1 PAX6 ZNF423 SHH MAFB WASHC5 TMEM138 INPP5E CHD7 TMEM231 DACT1 TMEM216 TMEM237 CCDC22 CHN1 CASK VPS35L ACTB C12orf57 PORCN SIX6 SALL1 ZEB2 BMP4 NAA10 PTEN WAC GZF1 RBP4 RERE SEMA3E TBX22 CEP290 AKT1 GDF3 HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS GJC2 PDYN MAPT ANO10 SURF1 ELOVL5 TMEM240 GRM1 NPHP1 SLC35A2 SLC1A3 MME PIK3R5 TCIRG1 ATP13A2 TNFSF11 NDUFAF3 KIF1A ALS2 PEX10 GBA AFG3L2 XRCC1 NOP56 NKX6-2 ATXN3 TGM6 CACNA1G DNAJC6 DARS2 ITPR1 TPP1 VPS13A EEF2 VPS13D SCP2 MYORG PEX2 UBAP1 CLCN7 FXN PNKP SLC6A3 SNCA PLA2G6 INPP5E MRE11 ATXN1 NDUFB8 TMEM216 GBA2 FBXO7 AGTPBP1 APTX PRNP SYNE1 CHP1 PLD3 SHMT2 FGF14 VAMP1 COQ5 C19orf12 KIF1B DHX16 GDAP2 NDUFS2 MFN2 SLC44A1 SPTBN2 SOX3 ATXN2 SCYL1 SNX10 ATXN8OS ATP2B3 TUBB3 ATXN7 SCO2 HP_HYPOMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETRIC_SACCADES MME MRE11 GRM1 SPTBN2 COQ5 APTX MAPT NKX6-2 MYORG GBA NPHP1 CACNA1G PLA2G6 DNAJC6 SLC1A3 HP_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_LOSS NOD2 KIAA1549 MFSD8 GUCY2D NPHP1 SMARCE1 ZNF469 NHS ALMS1 C1QTNF5 TRAF3IP1 ATXN7 BCOR PAX6 CARS2 BTD VCAN ZNHIT3 CDH23 MT-ND1 SLC19A2 TRIM44 CLRN1 MT-ND5 DNM1L CYP1B1 FGFR2 PRPH2 MYOC GNAS ARL3 CTNNB1 MYO7A HADHA PTPN22 USH1C SRD5A3 NEU1 RLBP1 PMPCB FBN1 CTSD MT-ND2 KIAA0586 HLA-A MT-CO1 PRPS1 WHRN USH2A MT-ND6 BAP1 SLC25A46 C8orf37 HARS1 MT-TS2 OPA1 SMARCB1 IFT140 C19orf12 KIF1A PNPLA6 TGFBI ADAMTS10 GNAQ HMCN1 TFG LRP2 GALC LMNB1 COL4A1 PDGFB CEP164 TBC1D24 ADGRV1 LTBP2 MEN1 SON COL18A1 LSS MT-ND4L CHM GUCA1A TREX1 CDHR1 ABCA4 MT-ND4 CEP41 MT-ATP6 FLVCR1 AKT1 GATA2 CFHR1 CEP290 MT-TL1 BRAF CLN8 APOE MT-TH CIB2 SPATA7 MT-CO3 KCTD7 HSD17B10 NOTCH3 PGK1 ZNF408 NPHP3 PLA2G6 TUBB3 PCYT1A SEMA4A NF2 CLN6 SMO RP1L1 USH1G RHO LCA5 COX6B1 TRAF7 TERT SF3B1 INPP5E EPRS1 FOXC1 RAX2 CYP4V2 NHLRC1 RDH5 SOST XYLT2 COQ2 NBAS ELMO2 PEX7 MT-CYB TEK PRDM5 ATP1A3 PDZD7 FA2H PSAP POLG NF1 CFHR3 MT-TF PCDH15 SMCHD1 LAMC3 COL2A1 USP8 CEP78 SH3BP2 NDUFS2 MT-TQ ABCD1 WAC TNFRSF11A DCN RS1 SUFU CFH IQCB1 KIF11 ESPN TAT CLN3 HSD17B4 ST3GAL5 SLC52A2 TPP1 UCHL1 COX7B CLCN7 OAT INVS PPT1 CLN5 COL7A1 CEP120 MERTK NDUFB11 AIP RDH11 TCOF1 NPHP4 WDR19 CYSLTR2 EPM2A GJB6 CSPP1 MKS1 AHI1 SOX2 MMP1 MT-TW PEX13 ALPK1 TIMM8A VHL GNA11 MFN2 CFI PHYH CA2 HCCS SDCCAG8 GJB2 MTTP PIK3CA ARSG MT-CO2 POLA1 HP_RETINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HEMORRHAGE IKBKG ATP6V1A ENPP1 CFHR1 TERC ERCC6 DNM2 HMCN1 XYLT1 ERCC8 ABCC6 APOE COL4A1 GCDH ATP6V1E1 ATP6V0A2 PRF1 IFNG TET2 TERT XYLT2 CFHR3 TREX1 SBDS MYD88 HP_THICK_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_EYEBROW SMARCA4 PHIP KIFBP FBXO31 PUF60 SOX4 ACER3 CNOT2 KMT2C MGAT2 MN1 TP63 DPF2 KCNH1 GPRASP2 ABCC9 DOCK7 SHANK3 SUMF1 ARID2 NBAS SLC35A2 SLC9A6 SLC6A17 BCOR KMT2A PAX3 IARS2 DNMT3A SMC3 HMGA2 ARID1B RNF125 CREBBP SMC1A MBD5 LEMD3 CDH11 SOX11 HDAC8 SETD1B SOX6 LAS1L B3GAT3 PSMD12 ARID1A HECW2 ZSWIM6 VPS13B SMARCD1 NIPBL WAC KCNN3 CTCF CUL7 NSUN2 KCNJ8 MAGEL2 FBXL4 ERLIN2 RAD21 TBCK TAF1 ATP6V1B2 SLC25A24 FUCA1 ATRX CHD1 RPS6KA3 ABCA5 RPS23 BPTF MEF2C EXT1 RBM10 GNS TAF6 CDON MAN2B1 EP300 SPECC1L SMAD4 KNL1 OBSL1 SMARCE1 SETD5 RUSC2 SMARCC2 AUTS2 MAP3K7 FRMD4A GUSB RALGAPA1 AFF4 KCNK4 SMARCB1 TUBGCP2 IDUA NOTCH2 RET SIM1 ANKRD11 TASP1 TRIO PHF6 TMCO1 CCDC8 CHST3 TRPS1 COL1A2 NFIX TFAP2B AIFM1 EBF3 WNT4 HP_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCOTOMA PROM1 RBP3 USH1G RLBP1 MT-ND1 RHO DNM1L MT-ND5 PDE6H ATF6 FDXR CYP4V2 RPGR RDH5 RAB28 USH1C CYP1B1 MT-CO3 CACNA1A RTN4IP1 C1QTNF5 ADGRV1 MT-CYB CNGB3 CACNA1F OPA1 C12orf65 MFSD8 BTD PDZD7 MT-ND4L POC1B IMPG2 TRNT1 MT-ND2 CFAP410 ITM2B PCDH15 CLRN1 OPA3 ATP1A2 MYO7A CRX PRPH2 ABCA4 MT-TS2 MT-ND4 PDE6C MT-ATP6 MT-CO1 CEP78 NDUFS2 ACO2 SCN1A TIMM8A TMEM126A KCNV2 MYOC GNAT2 CIB2 MFN2 PRPF3 HLA-A ELOVL4 PRRT2 WHRN FLVCR1 MTTP USH2A MT-ND6 HARS1 CNGA3 ARSG CDH23 ESPN HP_CENTROCECAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTROCECAL_SCOTOMA MT-ATP6 MT-CYB MT-ND1 OPA1 MT-ND4 MT-ND5 MT-CO1 MT-ND4L MT-ND2 MT-ND6 NDUFS2 MT-CO3 HP_NASOLACRIMAL_DUCT_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOLACRIMAL_DUCT_OBSTRUCTION PTDSS1 FGF10 TET3 NOP10 PIK3CD TFAP2A SOX6 FREM1 FGFR2 KAT6A EYA1 TP63 CREBBP PAX1 EP300 CD151 SIX1 TAF1 FGFR3 TCOF1 SMC3 IGSF3 KNSTRN NHP2 YY1 HP_PIGMENTARY_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIGMENTARY_RETINOPATHY KIAA1549 MT-ND4 NDUFA4 WFS1 NDUFA13 MFSD8 WDPCP ARL13B CTNS GUCY2D ERCC3 ERCC4 LZTFL1 PEX5 ACOX1 MKS1 RNU4ATAC MMACHC IFT27 GMPPB MT-ND1 ERCC6 NDUFA10 BBS1 PRPH2 COX7B ZNF513 PET100 CNGA1 RLBP1 BBS10 PRPF31 NDUFB11 SDHA MSTO1 MT-CO1 NDUFA12 ROM1 C8orf37 MT-TV MT-TS2 CRB1 PEX1 PDHA1 EYS MT-ND5 BEST1 TULP1 TRIM37 HADHB GSS RP1 PCARE NGLY1 SAG MFRP SDHAF1 MT-ND6 MT-TN RP2 ISCA1 ERCC8 ABCA4 FLVCR1 MT-TL1 HADHA MT-ATP6 BBS7 AIRE PNPLA6 RPE65 NDUFS8 MT-TH BBS2 NDUFS1 RNASEH1 LIPT1 ALMS1 RHO NDUFA9 MT-TK TTC8 NDUFV1 PRDX1 ATXN7 VPS13B POMT2 SURF1 HCCS ARL6 RDH5 CLCC1 NCAPG2 SDHD CNGB1 ECHS1 KIZ FOXRED1 POMT1 HADH PDE6A MT-TF PANK2 LARGE1 CRX JAG1 CEP290 NDUFS3 TRIM32 BBIP1 MT-CO3 MTFMT NDUFAF6 MKKS MT-ND2 MT-TQ BBS5 PEX2 BBS9 FSCN2 TACO1 BBS4 IMPG2 POLR3A AHI1 COX15 NDUFV2 BBS12 MT-TW NDUFS7 CLRN1 RP9 IDH3A IFT172 PRCD SLC19A3 FAM161A USH2A RP1L1 NR2E3 COX8A CAV1 NDUFS2 ZFYVE26 NPHP1 NDUFAF2 NDUFAF5 SDCCAG8 IMPDH1 SDHB RRM2B MT-ND3 AMACR NDUFS4 PISD COA8 MT-CO2 SNRNP200 NDUFA2 FKRP HP_BLEPHAROPHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHAROPHIMOSIS CLIP2 PAX3 COLEC10 MED12 HHAT CEP152 TBX15 FOXL2 SCARF2 HSPG2 DGCR6 SLX4 ABCC9 LMNA CUL4B BCOR FAT4 KMT2E HDAC4 MYT1L GPKOW TUBB SLC2A10 MAPRE2 MLXIPL TRMT1 KANSL1 ACTL6B CREBBP SMARCA2 LIG4 FBXW11 PIEZO2 ERF GJA1 KAT6B CRKL SVBP UGDH KRAS BRPF1 MED13 ATP6V1A GTF2IRD1 KCTD1 GTF2I MOGS ESS2 MAFB MEG3 NSUN2 ACTL6A COLEC11 TANC2 MAPK1 RFC2 SETD5 RTL1 ANK1 TP63 SLC6A17 RERE GATAD2B SALL4 CEP57 DGCR2 RBPJ BCR ATR UBE3B TBL2 DGCR8 RBMX DOCK3 ALG14 DDX6 RLIM DDR2 HUWE1 BPTF MYH3 ODC1 DNMT3A ERCC6 SMAD4 DACT1 PHF6 RHOA SOX9 TXNL4A FOXP1 MUSK KCNJ2 TBX1 FOXG1 CHN1 ELN PSMD12 MASP1 GPC6 STAC3 MCTP2 ORC1 SMOC1 BCORL1 BAZ1B LIMK1 EP300 ZMPSTE24 FANCD2 SALL1 NTNG1 TCF20 STRA6 KMT2A SEPTIN9 MYCN RECQL4 DCHS1 NFIB ERCC1 BRCA1 THOC6 WDR35 MECP2 TBL1XR1 SMO WDFY3 TLK2 ZMIZ1 DLK1 TRAPPC4 RAB18 PYCR1 HP_UPSLANTED_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPSLANTED_PALPEBRAL_FISSURE PEX11B PIGW NFIX CACNA1G PGAP3 PUF60 TCF4 PQBP1 PEX5 C2CD3 WNT5A TBX1 ATRX KIAA1109 QRICH1 MAP3K7 BRCA1 PIGV CD96 USP9X MEIS2 CEP152 DPYD ASXL3 UFD1 FLII MED13L BPTF PIGL TUBB MAPRE2 CXorf56 ASXL1 SLX4 MFSD2A PEX6 MAPK8IP3 KANSL1 CREBBP COPB2 KAT8 RAI1 ANKRD11 FANCB PEX2 PYCR2 OCRL SEC24C MEGF8 DLG3 TBX6 FANCM ARID1B RREB1 TRRAP CCDC22 PALB2 TBCK SETD5 TRIP12 ANK1 HIRA LIG4 AHDC1 ZNF148 PEX1 MEF2C KDM5C BCL11B B3GLCT TELO2 KNL1 TFAP2A MAP11 SNRPN AUTS2 CHAMP1 DEAF1 FANCI PEX26 SASS6 NARS1 ALX4 XRCC2 GP1BB ZMIZ1 PEX13 PIGN DYNC1I2 CNOT3 HERC2 RAD51C DVL3 MCTP2 TUBGCP2 PWAR1 VAC14 DVL1 NBN EHMT1 XRCC4 POLA1 SIM1 GAD1 SPECC1L CDK13 MCPH1 ADAT3 TRIO PTCH1 FANCE GATA1 IQSEC2 SEPTIN9 UBE2A PURA COG7 ADAMTSL2 MAF EFTUD2 RDH11 SMS ATAD3A MAGEL2 PEX3 CTU2 DHCR7 FZD2 NPAP1 CERT1 JMJD1C RAD51 TLK2 CHD4 SNORD116-1 CEP135 PEX14 UQCC2 RAB11B ZIC2 PHIP WDR62 CNOT2 CEP63 IGF1R PIGB PEX12 PCNT NCAPD3 PIGT PMM2 SIN3A PGAP2 PIGA NXN FANCD2 COMT PHC1 SMC1A TBCD NSDHL PEX19 POLR3A DLX4 MKRN3 SNORD115-1 ASPM BRIP1 NR2F1 JAG1 HBB KIF14 STIL BUB1B EIF2AK3 PIGO FIG4 CDK6 TOE1 METTL5 PEX7 AP3B1 ANKLE2 HERC1 PEX10 AP1S1 PIGY DONSON PEX16 IFT57 ERCC4 RERE KIF11 NONO FANCF CENPJ IL1RAPL1 WASF1 HSD17B4 CIT UBE3B EXOSC2 HUWE1 CDC42 PHF8 ARVCF BRCA2 PWRN1 ROR2 GJA1 FANCC HDAC4 TOR1A DYRK1A SLC16A2 NDN ADAMTS3 EP300 GATA4 TAF13 FANCL COG1 MYCN UBE2T RFWD3 EBP FANCG ADARB1 CDK5RAP2 RTTN HNRNPU FANCA FGFR2 PARS2 THOC6 WDR35 MAD2L2 KLHL7 ZC4H2 CLTC PPP1R12A EBF3 GATAD2B TMCO1 HP_BAND_KERATOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BAND_KERATOPATHY GNAS NOD2 COL18A1 JAG1 OVOL2 SLC4A4 HP_SHALLOW_ORBITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ORBITS FGFR2 SHPK FBN1 KCNJ6 P4HB SKI ADAMTS10 SETBP1 HNRNPK HYMAI HERC1 ESCO2 PLOD3 MAF FGFR1 NFIX SERPINH1 TWIST1 ZMPSTE24 MITF FLNB MTX2 GNPTAB PLAGL1 LMNA HP_ABNORMALITY_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OPTIC_NERVE NOD2 RHO NDUFS4 NDUFA4 PDHX PUF60 TRAK1 FKRP NDUFA13 WFS1 ACER3 MCOLN1 PCSK9 ERCC3 FDXR PEX5 HESX1 ATRX MAG LYRM7 HLA-DRB1 ZIC1 ACOX1 SLC1A2 ERF NDUFV1 PRPF4 ARHGEF18 XPC DDB2 CCDC22 MMACHC USP45 PEX6 KANSL1 CEP55 IDS NEDD4L SAG POGZ STAT4 FGFR2 DNMT1 SLC45A2 NMNAT1 PAX6 TBC1D20 FKTN ARSA IFT140 CTNNB1 FRMPD4 ROBO1 IL23R PMPCB TSC2 CBS ASXL1 NDE1 PEX10 MT-TQ ACTL6A SEC23A C8orf37 KIAA0586 BRAT1 NDUFA12 ALG3 MT-TV RPIA TANGO2 B3GALNT2 MSTO1 PDHA1 RP1 EYS FDX2 TMEM107 PCYT2 EPG5 LHX4 MT-ND5 SLC19A2 GABRA2 AHI1 FXN FAM111A COX7B TWNK PEX26 GUCY2D GFM2 GP1BB TIMM50 MTO1 NELFA TXN2 COL18A1 MT-ND6 SALL4 UBAC2 ERCC5 MYO5A MKS1 GDF6 XYLT2 NDUFA1 SCAPER NUP62 GLB1 ERCC8 RAB3GAP2 TRAF7 MT-ND4 ZNF513 AKT1 GPAA1 CLCN7 MT-TL1 FOXG1 UQCRFS1 PCARE POMT1 NDUFS2 MTFMT CKAP2L ESPN GLI2 CACNA1A ATP1A3 C12orf65 NARS2 NOTCH3 SLC44A1 PANK2 FGF12 ATAD3A GALC TACO1 DHCR7 PAX2 SNX10 C4A NDUFA9 NDP MT-ATP6 YWHAG POMGNT1 KIF7 TNFSF11 IFT172 MAK PTCD3 PEX12 AIPL1 KCNC3 NDUFAF1 EPRS1 CISD2 POMK DIAPH1 RECQL4 MVK PTPN23 NEK2 TRAPPC11 SIX6 LRP5 COL4A1 KMT2E COMT KCNB1 IFT88 FA2H PDE6G PDE6A RFC1 TBC1D7 CCR1 PCYT1A MT-TF FDFT1 TUBGCP6 GMPPB ERCC2 GNA11 AUH RGR AARS1 IMPDH1 ABCG8 SERAC1 TCTN2 GRIN2D GLA NDUFAF6 MT-ND2 TUBA8 TNFRSF11A FGFR3 RAB23 PEX2 ACTB B4GAT1 PIK3CA MAP2K1 L2HGDH FLVCR1 OPA1 MBTPS2 B3GLCT AIFM1 SLC38A8 DNM1L NDUFV2 NUS1 UBE3B RBM10 NDUFA11 KLC2 ERAP1 RAB3GAP1 WNT3 TCIRG1 NF2 XYLT1 PIEZO2 USH2A RTN4IP1 SLC19A3 AGBL5 FAM161A NDUFB8 LRP4 NDUFAF4 LHX3 GJA1 CHN1 PSMD12 LDLR GEMIN4 PPP2R1A RNF113A MEFV GLRX5 HLA-B MT-TW GABRA5 DAG1 ANTXR1 BRAF HNRNPK SDHA MYOC MC1R RBP3 CA4 ERCC4 SLC29A3 INTS8 KNSTRN NAGA WDFY3 CRB1 MICU1 COA8 SELENOI RERE SNRNP200 SEC31A PEX11B SLC7A14 SURF1 NTRK2 ERCC6 TOPORS ACO2 HARS1 SUMF1 TIMMDC1 SEMA4A CASR MYT1L NDUFS6 UFD1 IDH3A VPS53 POLR3A TRMT1 ACTL6B GABRB2 WT1 ANKRD11 TBC1D24 BBS2 KCNJ13 MED13 FAS SALL2 SZT2 TSC1 ADAM22 NAA10 POMT2 STXBP1 THG1L HLA-A DARS2 PRPS1 MTHFR TGFB1 PEX13 SLC25A46 CRPPA MT-TS2 NALCN PEX14 B9D1 DYRK1A KLHL7 C19orf12 KIF1A GPR161 PIK3CD LRAT DDX6 DENND5A TFG WASHC5 PDGFB NLRP3 BCAP31 TMEM216 HCN1 CDK19 SON CNOT3 SOX2 MT-ND4L RD3 PEX1 NR2F1 FOXE3 PLP1 SNAP29 BOLA3 ABCA4 GATA2 POLR3B NDUFS3 BEST1 LIPT1 IL12A-AS1 CEP290 INPP5K JMJD1C MT-CYB AHR PLA2G6 ATN1 ZMIZ1 PROP1 MFN2 SMO MT-ND1 IQCB1 MMUT HK1 ZNF592 MT-CO3 OTX2 TWIST1 HSD17B10 KRAS TMEM231 EIF2B4 DNAJC19 BCOR MMP2 TBCD ARNT2 NFIX CASK ALDH1A3 OPA3 LDLRAP1 EBP ITM2B PLEKHM1 TP53 SARDH PORCN CC2D2A PLAA P4HTM DHX38 NDUFS1 SVBP NDUFS8 POLG ACTG1 TMTC3 SH3BP2 TOE1 MOGS SOST CRX FANCB RLBP1 FSCN2 CNGA1 PEX3 NR2E3 PRDM16 SOX5 GRIA4 PEX16 LARGE1 CSF1R ASB10 MT-TH KIF11 ARL2BP TPI1 CENPF COX15 WDR11 ASPA MMP14 NDUFB9 REEP6 SLC13A5 YAP1 RLIM IDH3B PRCD NDUFS7 CHD7 MERTK ARVCF IER3IP1 WDR73 WDPCP SLC39A14 RP1L1 CYFIP2 IBA57 PSAP PRPF31 ADA2 TOR1A RPGRIP1L PDSS1 CSPP1 KLRC4 ROM1 EEF1A2 LAMB1 TRIT1 TIMM8A PRPF8 TMEM126A GRN KIF14 VHL ABCC6 HNRNPU CA2 CNNM4 POMGNT2 PIGU PCLO ARX STAMBP DKC1 GATAD2B TRAPPC4 DHDDS DPM1 KIAA1549 ARV1 PCK1 ABHD12 ARL13B STAG2 MMP19 TBX1 SPINT2 PEX19 SMARCE1 SCYL2 AP1S2 GABRG2 WWOX ABCG5 FANCI IGBP1 FCSK RP2 RPGRIP1 RPGR NDUFAF2 PDE6B VCAN ZNHIT3 LCA5 NECAP1 B3GALT6 DGUOK FBXW11 SPG7 SEC24C NRL PTPN22 TYR ISCA2 GBA PET100 GTPBP2 NEU1 SCN8A MPDU1 PTEN NDUFB10 RSPO2 WARS2 MT-CO1 BLOC1S3 AFG3L2 GNAQ PLK4 SEMA3E TBCE PRUNE1 SSBP1 SMARCB1 DOCK3 TMEM67 CLRN1 INPP5E ARHGEF2 NGLY1 EIF2B2 MFSD8 GNAT1 TNFRSF11B HIKESHI AGXT CDON EIF2B3 MT-ND3 RAB18 NDUFAF3 MICOS13 NTNG1 TCF20 SCN3A IL12A GP1BA AFF4 KCNA2 RP9 ATIC YME1L1 NDUFA6 PRICKLE3 MT-TK ATXN7 RAB11B ARL6 DPYD GMPPA SPATA7 TYRP1 PIGB FGFR1 PROKR2 ECHS1 CERKL LETM1 FOXRED1 AAAS TMEM126B MPLKIP AMPD2 ZEB2 DDX11 OSTM1 TTC8 KCNAB2 GJC2 SUFU NUBPL BTD NOTCH2NLC MT-RNR1 SYNJ1 ST3GAL5 APC TK2 MT-TP SOX3 NDUFAF8 KAT6A PPT1 CDC42 RPE65 TRNT1 UBA5 MAN2B1 STT3B DPM2 CDHR1 CNKSR2 GABRD FOXA2 NT5C2 ATP6V1A NDUFAF5 ZNF408 SLC25A19 HGSNAT CPAMD8 PARS2 DNM1 PISD TSFM NDUFA2 SPOP RNF135 RDH12 RPS6KA3 EIF2B1 CHSY1 C2CD3 MTPAP ALMS1 SH2B1 COG6 DOCK6 CTC1 CNGB1 ELP1 VPS33A POU1F1 NDUFA10 RXYLT1 MRPS34 IL10 SRD5A3 CFAP410 FLRT1 NSD2 VPS13B RREB1 TANC2 KIZ CYP27A1 HIRA BAP1 MEF2C CLTC TULP1 ADAR DDHD2 MAFB MFRP RIMS2 CLP1 SYNGAP1 MT-TN TRAPPC12 POU3F4 TMEM63A SKI PROM1 TUBGCP2 XPA TUBB4A ATXN1 PTF1A GGCX GRID2 GDF3 NDUFB11 IMPG2 VPS11 KCTD7 NDUFB3 RTTN PRKAR1A SMOC1 SCYL1 TUBB3 MED12 MAP2K2 TERT NIPBL SIL1 CLCC1 CYP7B1 OCA2 NBAS TMEM98 PRPF3 EMC1 MECR TUB MGP EXOC8 ALG13 DALRD3 MFF CLCN2 SLC6A9 PPP3CA EIF2B5 B9D2 AP3B2 ACADS ELOVL1 CCDC88A PPP1CB APOB CLN3 PRPH2 SLC52A2 TLR4 UCHL1 RNF216 ARL3 FH TMEM237 HUWE1 GUCA1B BPTF CYP1B1 DNMT3A MPDZ RHOA CACNA1F PNPLA6 WDR4 TUBGCP4 CACNA1B PRPF6 BCORL1 IKBKG WDR45 TASP1 IL11RA OFD1 ERCC1 MT-CO2 SCO2 HP_OPTIC_NERVE_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_COLOBOMA RPGRIP1L PAX6 SALL4 BCOR TMEM67 CC2D2A ACTG1 NIPBL C2CD3 SALL2 SMO SPINT2 INPP5E PAX2 NAA10 DDX11 SH2B1 ACTB IGBP1 TMEM216 FOXE3 HP_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOBOMA CLDN19 FKTN FLNA SALL4 PUF60 HHAT FKRP ARMC9 CRYAA C2CD3 SMO PRMT7 SPINT2 KIAA0586 MKS1 RB1 PRPS1 TMEM231 KDM6A BCOR SH2B1 RPGRIP1L IGBP1 CRYBA4 SIX3 CCDC22 MMACHC MED13L PIGL POMK HMX1 FGFR1 LARGE1 B9D1 FIBP INPP5E RXYLT1 POGZ FGFR2 NMNAT1 HMGB3 PAX6 CPLX1 ALG2 DISP1 NOTCH3 COX7B ZEB2 SRD5A3 SALL2 KCTD1 KIFBP NSD2 NDUFB11 VPS13B NAA10 KATNIP POMT2 RSPO2 PTEN SMCHD1 ESCO2 ERF WDR37 TBX22 NRAS ATOH7 NODAL ANK1 GNAQ PTCH2 ALG3 EP300 SEMA3E POMT1 CRPPA B3GALNT2 HRAS B3GLCT TGIF1 TBR1 TFAP2A TMEM67 CC2D2A SHH MAFB GLI2 LRP2 WASHC5 TMEM138 ZMIZ1 GAS1 FGF8 NELFA TCTN2 TMEM216 CHD7 POLR1D SUFU TMEM237 SOX2 MED12L ARL13B CREBBP MITF KRAS ACTB C12orf57 FOXE3 DHX38 RAB18 RAB3GAP2 CEP41 SIX6 SALL1 VSX2 PTCH1 ROR1 AHI1 CRYGC GDF3 GZF1 YAP1 RBP4 MAF DHCR7 PAX2 RERE CRYBB2 CEP104 KIF7 HYLS1 CPLANE1 TBC1D20 DPYD ZIC2 POLR1C HCCS GMPPA INTS1 NIPBL CRYBB1 CSPP1 OTX2 TRAPPC11 PDE6D SIN3A MAB21L2 POMGNT1 LETM1 MMP2 HNRNPK CRYGD SPECC1L CASK VPS35L ALDH1A3 COL4A1 PORCN ALX3 GMPPB TCTN1 GDF6 ACTG1 BMP4 DLL1 PQBP1 DDX11 MBTPS2 PNPLA6 CENPF AKT1 SATB2 AAAS MMP14 RAB3GAP1 WNT3 NPHP1 ZNF423 CTBP1 CEP120 MPDZ DACT1 ARL3 FGFRL1 GJA8 FLI1 CHN1 KMT2D ADNP DYRK1A CDON TDGF1 TBC1D23 FGF3 NOTCH2 PIBF1 TENM3 TCOF1 ABCB6 ATP6V1A DAG1 FOXH1 WAC CEP290 POMGNT2 FBXW11 B4GAT1 PACS1 HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA MT-TL1 MT-ND5 RRM2B POLG2 ATXN3 TYMP TWNK POLG MT-TN TK2 DNA2 OPA1 MT-TK SLC25A4 MT-TT MT-ND6 APTX MT-ND1 ACADS MT-TF C1QBP VARS2 MT-TL2 DGUOK TOP3A MT-TW MT-CO3 MGME1 MT-TQ MT-TH RNASEH1 MT-ND4 MT-CO1 MT-ATP8 MT-TS2 MT-CO2 HP_ABNORMAL_SCLERA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCLERA_MORPHOLOGY ALPL KDM1A KDM6A LRP5 KIFBP CYB5R3 IFITM5 CHSY1 XYLT1 PRKAR1A PRMT7 RMRP PIGT PPP1R15B ZNF469 WNT5A OCA2 FGFR1 PRDM5 TRMT10A TENT5A NXN CHST14 POLR3A ARL2 NFIX HGD IDS ABCC6 COL1A1 CYB5A TGFBR1 FBN1 B3GALT6 SLC29A3 ADAMTS2 HADHA KRAS PSMB8 B3GAT3 MVK NLRP3 COL1A2 PAX1 DSE BMP1 IKBKG TGFBR2 CANT1 PTEN MBTPS2 SLC26A2 ESCO2 CLCNKB SEC24D BCL11A TRMT5 AKT1 CREB3L1 WASF1 TELO2 DVL3 BEST1 WNT1 FKBP10 COL12A1 PPIB PRSS56 DACT1 MESD ROR2 MFRP SON GHR SERPINH1 MAP3K7 KMT2D COG4 CTSK PUS3 B4GALT7 PLOD1 TGFB3 EXOC6B SLC39A13 DNASE1L3 TMEM38B SALL1 HSPG2 CHST3 ENPP1 DVL1 IGF2 MC1R C1R COL3A1 COL5A1 FZD2 PYCR1 P4HB CRTAP INPPL1 HP_BLUE_SCLERAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_SCLERAE ALPL KDM1A KDM6A LRP5 KIFBP CYB5R3 IFITM5 CHSY1 XYLT1 PRMT7 RMRP PPP1R15B ZNF469 WNT5A PRDM5 TRMT10A TENT5A NXN CHST14 POLR3A NFIX ABCC6 COL1A1 CYB5A TGFBR1 FBN1 B3GALT6 ADAMTS2 B3GAT3 MVK COL1A2 PAX1 DSE BMP1 IKBKG TGFBR2 CANT1 MBTPS2 SLC26A2 ESCO2 SEC24D BCL11A TRMT5 CREB3L1 WASF1 TELO2 DVL3 WNT1 FKBP10 COL12A1 PPIB MESD ROR2 SON GHR SERPINH1 MAP3K7 KMT2D COG4 CTSK PUS3 B4GALT7 PLOD1 TGFB3 EXOC6B SLC39A13 HGD TMEM38B HSPG2 CHST3 ENPP1 DVL1 IGF2 C1R COL3A1 COL5A1 FZD2 PYCR1 P4HB CRTAP INPPL1 HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY MITF PIGW FBN1 COLEC10 FOXC1 CYP1B1 PAX6 PITX2 PGAP3 NDP FOXE3 MIR204 FGFR1 PGAP2 ELMO2 COLEC11 CHST14 LRP5 OVOL2 ASXL1 MASP1 PIK3R1 ZEB1 PIGV JAG1 PIGO PIGL COL8A2 VSX1 LTBP2 ADAMTS10 GRHL2 TSPAN12 MYOC PIGY LOXL1 COL18A1 ATOH7 B3GLCT KLHL7 CHRDL1 RAB18 HP_SHALLOW_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ANTERIOR_CHAMBER PIGW PIGY FBN1 PIGL ATOH7 PGAP3 LTBP2 NDP ADAMTS10 TSPAN12 PIGV PGAP2 RAB18 PIGO HP_OPHTHALMOPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPHTHALMOPARESIS RHO NDUFA4 NDUFA13 MT-TS2 CHRND SMARCE1 EYS MT-CO3 LYRM7 SLC9A6 ATXN7 RP2 ACTA1 GRIN1 RPGR SCN4A PRPF4 ACTN2 PIEZO2 NDUFAF2 PDE6B MT-ND1 PHOX2A MAP3K20 SAG VARS2 DGUOK TOP3A MT-TF IFT140 MT-TK NRL CDH23 PTPN22 GBA PET100 SBF1 MT-TE ATXN3 KIF21A MYF6 C8orf37 MT-CO1 AGRN NDUFA12 NEB SYT2 MT-ATP8 MT-TV SPEG CHRNA1 PDHA1 SMARCB1 ARL2BP RP1 RYR1 MT-ND5 POLG2 AHI1 KRT14 ITGA7 TSPYL1 TWNK MT-TC TRPV4 GABRA3 POMGNT1 ADPRS CLRN1 MYF5 CHAT SELENON MEN1 SNAP25 CHRNB1 SDHAF1 COL3A1 MT-ND6 PMPCA SDHA SYNE1 DOK7 MTM1 ZNF513 AKT1 MT-TL1 KCNJ18 PCARE C12orf65 NDUFS2 CHRNE POLG RP9 DHX37 RNASEH1 BIN1 ATXN2 FSCN2 HPDL NDUFA9 NDUFV1 GFPT1 SLC18A3 MUSK ARL6 VAMP1 TRAF7 SURF1 RRM2B KLHL41 CISD2 PLEC MT-CYB KIAA1549 PABPN1 NEK2 TTN NAXD ECHS1 CERKL COL13A1 OPA1 TUBB3 FOXRED1 IFT88 ACADS C1QBP MT-TQ MT-TL2 NDUFAF3 MCM3AP RGR IMPDH1 IFT172 MTMR14 NDUFAF6 LAMA2 MT-ND2 MT-TW TTC8 TACO1 ANGPTL6 SUFU CACNA1S DNA2 NOTCH2NLC NDUFV2 TK2 LRP4 NDUFS7 MYL2 TYMP LRP12 NF2 TCIRG1 USH2A SLC19A3 RPE65 AGBL5 KLHL40 NDUFB8 ARHGEF18 FA2H LAMB2 CHN1 CDHR1 THSD1 FDXR STUB1 NDUFAF5 ZNF408 HGSNAT MICU1 RBP3 MT-ND4 CA4 SDHB ABCA4 NDUFA2 NUTM2B-AS1 DNM1L SLC7A14 SNRNP200 TOPORS REV3L MYMK SEMA4A IDH3A CNGB1 NDUFA10 BBS2 KCND3 TPM3 SLC5A7 SLC52A3 SCAPER ATP5MD PDE6A KIZ AFG3L2 RP1L1 MGME1 BAP1 TGFBR3 HRAS LMOD3 KLHL7 LRAT MAFB CRX PDGFB MT-TT MYH2 DNM2 PROM1 ATXN1 STIM1 MT-ATP6 UGT1A1 KRT5 MT-CO2 TPM2 NDUFS8 MT-TH IMPG2 NDUFS1 LIPT1 AHR ATN1 MAK SMO PDE6G AK9 CRB1 TERT MAPT SLC25A1 EARS2 SALL4 SDHD SPATA7 NRAS PRPF3 PRCD SLC25A4 GPC1 RDH12 COLQ MYH7 TULP1 DHX38 NDUFS3 MFF MTFMT SUCLA2 RLBP1 CNGA1 HACD1 NR2E3 MYO9A RAPSN ROBO3 COX15 FRG1 PRPH2 KRAS REEP6 DMPK PLXND1 ARL3 GUCA1B IDH3B MT-TN AIP TUB BEST1 ENG PRPF31 FAM161A APTX ADA2 PRPF6 MERTK ROM1 WFS1 PRPF8 GIPC1 MT-ND3 MTTP NDUFS4 PIK3CA OFD1 DHDDS SCO2 HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE KDM1A PEX6 SH2B1 PPARG NOVA2 PACS1 SMPD4 CDH1 POLR1C HSPG2 CPOX TWIST2 FGFR3 ABCC9 DOCK7 FGFR2 TWIST1 SIN3A ZIC1 FGD1 TSR2 LETM1 TRMT10A EMC1 COG5 DOCK6 IFIH1 MEIS2 SMC3 SMC1A RPS17 DLX4 ASXL1 MID1 SLC35C1 RPL11 CCNK LRP2 NANS RPS19 ALX3 SMARCA2 LIG4 TBC1D20 TECPR2 HDAC8 TBC1D24 NSD1 CAV1 ERMARD APC2 PEPD ARID1A SOS1 SVBP NSD2 ADA2 VPS13B NIPBL SLC9A7 THOC6 RPL35A KCNJ8 RPS10 RPL35 RPL15 RPS7 KMT2A SETD5 BSCL2 ATP6V1B2 RPL31 PIGK RERE AGPAT2 EFNB1 KCNH1 FRAS1 SETD2 SLC25A24 NSUN2 TAF6 NRXN1 IGF1 MAN2B1 MED13L KREMEN1 ALX1 EP300 SPECC1L RPS24 GATA1 ADNP TCF12 NELFA RPL26 PPP1R15B RPS26 RPS28 MAP3K7 FRMD4A INSR CREBBP SMARCE1 DPM2 RALGAPA1 RAB3GAP2 RPS29 RPL18 NOTCH2 TCOF1 NBN XRCC4 FOS SLC12A6 PIK3C2A CNTNAP2 ANKRD11 NEPRO PEX1 SYT1 CAVIN1 TBX2 KCNN3 COG7 RPL5 ADARB1 POLR1D BRCA1 CWC27 AIFM1 TBL1XR1 UGP2 RPS27 LRPPRC KLHL7 RPS15A ZC4H2 STAG2 RAD21 ARX MAB21L1 TMCO1 SPOP RAB18 WNT4 RPL27 HP_ABNORMALITY_OF_THE_PHARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHARYNX ZAP70 STAT1 CR2 SRP54 GLI3 DNAAF4 GFI1 COL5A2 CXCR4 IL6R SCNN1A CD19 TBX1 JAK3 CD79A ALMS1 ICOS CTLA4 NCF4 MGP RAG2 CFI USP9X RTEL1 UFD1 ACP5 DCLRE1C DNAAF1 MID1 CREBBP NEK10 PRPS1 TERT CCDC65 CFAP298 TP53 DNAH5 SEC24C SLC29A3 TNFSF12 PSMB8 PTPN22 F12 CD81 DOCK8 RREB1 MST1R GAS2L2 HIRA HYDIN ZMYND10 SCNN1G ANKH HPS6 IGHM TAP2 ASAH1 IL7R IVNS1ABP STXBP2 EGFR PRKCD GLB1 GP1BB DNAAF6 MED12 FOXP1 IL17RA FOXN1 RPGR SALL4 NLRP12 PNP SGSH SETBP1 MS4A1 FGFR2 OFD1 CTC1 NFKB1 CCDC114 WRAP53 NAGLU COL5A1 SERPING1 NHP2 JMJD1C DKC1 DNAAF5 CIITA TNFRSF13C MAGT1 NBN LRRC6 ATM RSPRY1 HSPG2 GNPTAB PABPN1 TERC RFXANK LEP CARMIL2 COMT SHH MYSM1 USB1 IDS RFX5 ADA TAPBP SOX9 STAT3 GALNS TBC1D24 MCIDAS SPAG1 RAG1 LRBA PARN CD79B SH2D1A KATNIP RSPH4A MATR3 TP63 PLP1 SCNN1B XIAP MDM4 NOTCH2NLC UNG ARMC4 GJA1 TINF2 RSPH1 ELANE GNS NPM1 FOXJ1 FCGR3A DNAAF2 RNF168 EP300 ARVCF RAI1 TNFRSF13B RFXAP LEPR TCOF1 RAC2 PLG TNFRSF1A IL21R AICDA COG4 ADA2 ADNP GUSB DNAJB13 NFKB2 IL2RG WAS NOP10 HGSNAT STK11 NME8 GAS8 TAP1 SH3KBP1 DNAI2 ARSB FGFR1 TCIRG1 UNC119 HP_HYPOTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTELORISM ZIC2 FGFR1 TDGF1 NODAL SHH NIN CDON SMPD4 ERCC3 RNF113A IFT122 KIAA1109 COX14 DLL1 PPP1R15B FGFR3 MKS1 FGFR2 TWIST1 DISP1 FARSB TGIF1 NDP FOXH1 PTCH1 SIX3 QARS1 TRMT10A RLIM GPT2 SMC1A HNRNPH2 ARID1B AP3D1 GAS1 MLXIPL PDE4D ARCN1 RECQL4 WDR35 KAT8 NUP133 RAB3GAP2 IFT43 GTF2E2 NTNG2 WDR19 KCTD1 NDE1 NSUN2 TPRKB TP53RK TRRAP FGF8 ACBD5 SLC35A1 GLI2 ERCC2 RERE GATA2 GSC RAB3GAP1 TARS1 MSTO1 ALDH18A1 LIG4 SUFU GTF2H5 EPG5 SNRPN TRAPPC9 STAG2 XRCC4 HUWE1 DYRK1A IFT52 CNOT3 EVC2 CNOT1 LAGE3 GJA1 USP9X OSGEP ELN DPM2 NF1 SRC OPHN1 MSX2 WDR4 EVC SHPK MPLKIP FANCD2 CDK19 KANSL1 SEPTIN9 FREM1 RTTN NARS1 PROKR2 WDR73 PAH PYCR1 STIM1 NUP107 HP_CENTRAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SCOTOMA PROM1 RBP3 MT-ND1 RHO DNM1L MT-ND5 PDE6H ATF6 FDXR RPGR RDH5 RAB28 CYP1B1 MT-CO3 RTN4IP1 CNGB3 CACNA1F MT-CYB OPA1 C12orf65 MFSD8 POC1B IMPG2 MT-ND2 CFAP410 MT-ND4L ITM2B OPA3 CRX PRPH2 ABCA4 MT-ND4 PDE6C MT-CO1 NDUFS2 RLBP1 TIMM8A TMEM126A MYOC GNAT2 MFN2 MT-ATP6 ELOVL4 CNGA3 MT-ND6 HP_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_GAZE_PALSY TARDBP MAPT SQSTM1 CCDC88C DCTN1 SPG7 TWNK FTL PIGT PLA2G6 TBK1 ACOX2 PRNP CHCHD10 ATP13A2 FA2H KCNC3 FUS ROBO3 VCP ALS2 SPG11 C9orf72 POLR3A NPC2 ADD3 ATXN1 VAMP1 DLAT GBA DCC HOXA1 HLA-DQB1 NOP56 SIGMAR1 ELOVL4 POLG TANGO2 NPC1 VPS13A SYNJ1 HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION GRIA3 CLIP2 PEX11B FBXO31 PPARG CDH11 YY1 POMP PEX5 ARX SMCHD1 SUZ12 DMD SHANK3 ABCC9 DOCK7 GDI1 ZFPM2 COL5A2 NRAS ZIC1 TUBB ZNHIT3 ASXL1 KIF15 MLXIPL SLC35C1 VPS33A PSPH PEX6 SUMF1 GJA5 LIG4 PEX2 FLNA ADAMTS2 SLC29A3 ARHGEF6 GDF1 GTF2IRD1 RPS6KA3 KCTD1 NEU1 GTF2I ZSWIM6 GSN COL1A1 HBA2 SEC23A KCNJ8 RFC2 TAF1 BSCL2 FGFR2 TNFRSF1A FRG1 DLG3 MED13 ERCC4 KIF1A FGF10 SOX18 TBL2 RBMX PIK3CD EDAR NRXN1 SNX14 PEX26 LRP2 GPR101 UPF3B PEX13 PHF6 GATA5 GHR MAP3K7 USP9X MYOD1 FOXG1 FRMD4A MED12L IQSEC2 MASP1 HDAC8 PTH1R LIMK1 FTSJ1 CNTNAP2 HRAS PSMB9 BRAF CAVIN1 MED12 NKX2-5 FREM1 ACSL4 RIN2 FGFR3 PITX2 PEX3 TCF12 PDGFRB COL5A1 IGSF3 CAMTA1 MAP2K2 PEX14 EDARADD FGFR1 JAG1 PPP2CA DNMT3B AIP PEX12 GNPTAB CHD1 TWIST2 ZNF81 MAB21L2 TTC37 PAK3 KRAS GATA6 PEX19 IDS UBE2A SYP MECP2 PIK3R1 MID2 RBM10 EDA CAV1 LAS1L SOX11 ACTG1 PSMB4 NKX2-6 AGTR2 ZNF711 PIEZO1 PEX10 CCBE1 RAB23 ACTB PRTN3 CNKSR2 ESCO2 MAP2K1 HBA1 PEX16 KIF11 AGPAT2 FLT4 CLCN4 WDR4 GATA4 ALG13 LTBP4 SLC25A24 NSUN2 PCGF2 CHD8 ZNF41 CYP26C1 PTCHD1 PHF8 TSPAN7 RAB39B HLA-DPA1 KAT6A SLC9A7 FHL1 FRMPD4 ELN MDH1 USP27X OPHN1 CTLA4 CXorf56 MYD88 BAZ1B FOS TASP1 TWIST1 PRMT7 DUX4 TBX1 ANTXR1 HLA-DPB1 KMT2E PTPN22 IL1RAPL1 PEX1 GNE KPTN SP7 KNSTRN KLHL7 HCFC1 GATAD2B TRAPPC9 CITED2 SPOP HP_MACULAR_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DEGENERATION AIPL1 GTF2H5 SPG11 CFH RHO ANO10 GUCY2D HK1 FBLN1 RP9 ERCC3 RNF113A ELOVL4 RAX2 MAPKAPK3 RLBP1 PPT1 HMCN1 TNFRSF11B XYLT1 RDH5 FBN2 SH3BP2 GBA IFT140 PRCD MERTK RPGRIP1 CNGB1 ATXN7 CNGB3 CEP78 PROM1 FBLN5 CST3 NR2E3 ALDH3A2 PRPH2 ABCC6 BEST1 GUCA1A XYLT2 CFHR3 SAG SCAPER DHX38 ZFYVE26 ABCA4 GRK1 MPLKIP SIX6 GTF2E2 DRAM2 CFHR1 RPGR PITPNM3 PRPF31 PAX2 APOE KCNV2 COL18A1 GUCA1B RS1 CFI HLA-A PLK4 ATF6 NRL WDR19 ERCC2 C8orf37 ARL2BP CDH3 TTC8 SEMA4A TARS1 TRAF3IP1 CP CLN3 ASAH1 HP_OPTIC_NERVE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_HYPOPLASIA WDR11 HESX1 FKTN LHX4 GPR161 PIK3CD PUF60 FKRP WNT3 PROP1 SOX3 STAG2 PAX6 FGFR1 PTPN23 DNMT3A OTX2 SIX6 POMGNT1 ZIC1 PROKR2 FANCI ERF SCN8A SON CRPPA SOX2 LHX3 HNRNPK POMK ARNT2 CASK ALDH1A3 POU1F1 FDFT1 DDHD2 NR2F1 FOXE3 CDON PPP2R1A WT1 GMPPB ANKRD11 RNF113A B3GALNT2 FOXA2 ROBO1 PTF1A POMT1 TUBA8 MAP2K2 NDE1 KIF14 GLI2 POMT2 RSPO2 RTTN GRIA4 ATAD3A MBTPS2 KNSTRN TUBB3 GATAD2B MED12 PPP1CB CENPF MEF2C LARGE1 SPOP RNF135 HP_ABNORMAL_CHOROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHOROID_MORPHOLOGY NOD2 CLDN19 PEX11B FKTN SALL4 HHAT GUCY2D FBLN1 MAPKAPK3 SLC25A15 HLA-DRB1 TMEM231 RPGRIP1 CCDC22 PRPH2 VCAN TUBGCP6 LARGE1 PEX6 RXYLT1 CEP55 GNAQ IMPG1 PDCD10 MAGEL2 PAX6 PEX2 OCRL MT-TK ACVRL1 HADHA VSX1 ZEB2 MT-TE NDE1 VPS13B NAA10 IKBKG PTEN CLCNKB HLA-A ABCA4 ELOVL4 TUBGCP4 SEMA3E POMT1 ROM1 CRPPA CRB1 B3GALNT2 OVOL2 B9D1 EYS TMEM107 PNPLA6 BEST1 TMEM67 PEX5 CC2D2A PEX26 SHH MAFB HMCN1 WASHC5 TMEM138 INPP5E PEX13 SAG CNGB3 TMEM216 SIM1 TMEM237 MKS1 RP2 POU3F4 XYLT2 ACTB C12orf57 POMT2 MFRP OAT AGXT IMPG2 COL8A2 SIX6 EPHA2 CFHR1 SALL1 CHM APOE ADAMTS18 GZF1 PEX3 RBP4 CEP290 ZNF408 RERE TBX22 RPE65 PEX14 RPGRIP1L BCOR PEX12 POMK CYP4V2 KRIT1 NDP FBLN5 TSC2 PEX19 CASK VPS35L NF1 PRSS56 CFHR3 COL4A1 PORCN CRX JAG1 GUCA1A ENPP1 TCTN2 MT-TL1 CLCN2 BMP4 PROM1 PEX10 FSCN2 B9D2 PEX16 KIF11 TEAD1 TMEM98 AKT1 GDF3 UBE3B YAP1 COX7B ZNF423 XYLT1 FBN2 EP300 RNF216 ABCC6 CHD7 NDUFB11 DACT1 WDPCP POMGNT1 TSC1 CHN1 CREBBP CSPP1 ZEB1 DHX16 DAG1 FKRP DPP6 GRHL2 PAX2 WAC CCM2 CFI PEX1 HCCS NRL POMGNT2 B4GAT1 HP_IRIS_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_COLOBOMA FKTN FLNA SALL4 ARMC9 CRYAA SMO MKS1 RB1 TMEM231 BCOR RPGRIP1L IGBP1 CRYBA4 SIX3 CCDC22 FGFR1 LARGE1 B9D1 INPP5E RXYLT1 POGZ FGFR2 CPLX1 ALG2 DISP1 NOTCH3 COX7B ZEB2 SALL2 KCTD1 KIFBP NSD2 NDUFB11 VPS13B NAA10 KATNIP RSPO2 ERF NRAS ATOH7 NODAL ANK1 GNAQ PTCH2 ALG3 SEMA3E POMT1 CRPPA B3GALNT2 B3GLCT TGIF1 TFAP2A TMEM67 CC2D2A SHH MAFB GLI2 LRP2 WASHC5 TMEM138 GAS1 FGF8 NELFA TCTN2 CHD7 SUFU TMEM237 MED12L ARL13B KRAS ACTB C12orf57 POMT2 CEP41 SIX6 SALL1 VSX2 PTCH1 ROR1 AHI1 CRYGC GZF1 RBP4 MAF DHCR7 RERE CRYBB2 TBX22 CEP104 HYLS1 CPLANE1 ZIC2 HCCS GMPPA POMK POLR1C CRYBB1 CSPP1 TRAPPC11 SIN3A LETM1 MMP2 CRYGD COL4A1 PORCN ALX3 SMCHD1 TCTN1 TMEM216 ACTG1 BMP4 DLL1 MBTPS2 PNPLA6 SRD5A3 KIAA0586 CENPF GDF3 AAAS MMP14 YAP1 WNT3 NPHP1 ZNF423 CTBP1 CEP120 MPDZ DACT1 ARL3 FGFRL1 POMGNT1 GJA8 FLI1 CHN1 ADNP DYRK1A CDON TDGF1 HRAS FGF3 NOTCH2 PIBF1 TENM3 TCOF1 SOX2 PUF60 ATP6V1A DAG1 FOXH1 FKRP POLR1D POMGNT2 B4GAT1 CEP290 HP_PHOTOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPHOBIA LYST NOD2 RHO SLC7A14 CACNA2D4 AP3D1 PDE6H GUCY2D MCOLN1 CTNS TYR ERCC4 RNF113A ERCC6 SNRNP200 TOPORS DRAM2 HARS1 EYS ALMS1 HLA-DRB1 PROM1 ATXN7 OPN1MW SEMA4A XPC DDB2 RP2 RPGR PRPF4 IDH3A CNGB1 PDE6B PLCD1 SAG STAT4 SLC45A2 NMNAT1 PRPH2 IFT140 BBS2 NRL CNNM4 HADHA GTF2E2 VSX1 IL23R PITPNM3 IL10 FAS RPGRIP1 RLBP1 SCAPER KCNV2 OPN1LW C8orf37 PIKFYVE PDE6A HLA-A KIZ RP1L1 AFG3L2 LSS GNAT2 MAPT GJB2 HPS6 CNGA3 GPR143 OVOL2 PDE6C ARL2BP RP1 KLHL7 PNPLA6 AHI1 LRAT KRT12 GNB3 CRX POMGNT1 CLRN1 AIRE GUCA1A MFRP RIMS2 DKK1 UNC119 COL17A1 UBAC2 SLC39A4 OPN1SW CHST6 SLC1A3 RAX2 FOXE3 XPA CDHR1 ERCC1 SCN1A POC1B NLRP1 MPLKIP COL8A2 ZNF513 MBTPS2 RPE65 IL12A PCARE GJB6 IMPG2 RP9 TNF IL12A-AS1 LRMDA FSCN2 CNGB3 C4A POLH AHR EDNRA PCYT1A TTC8 GALC MAK IKZF1 PDE6G RGS9 CRB1 ARL6 RGS9BP ZNF408 HK1 ERCC3 TP63 RDH5 KIAA1549 SREBF1 CLCC1 NEK2 OCA2 SPATA7 CEP250 SLC6A19 PRPF3 CERKL CEP78 PRCD RAB28 KCNJ13 ALDH3A2 IFT88 TTLL5 WNT10A RDH12 CFAP410 PSAP CCR1 ITM2B ERCC2 CACNA1F FOXC2 ADAM9 RGR ERCC5 TULP1 IMPDH1 NLRP3 DHX38 TGFBI IFT172 SLC24A5 ST14 AP1B1 AP3B1 CNGA1 NR2E3 ATF6 ELOVL1 ESR1 ANTXR1 AHSG RIMS1 TARS1 TAT LTBP2 GTF2H5 REEP6 PCNA ERAP1 TLR4 CST6 ARL3 ABCA4 GUCA1B IDH3B ERCC8 USH2A RTN4IP1 CRYGC AGBL5 TUB BEST1 ARHGEF18 PRPF31 FAM161A PRPF6 MERTK ZEB1 HLA-B MEFV KLRC4 ROM1 TACSTD2 HGSNAT ITGB6 TIMM8A GRHL2 PRPF8 KRT3 MC1R RBP3 CA4 OFD1 AIPL1 DHDDS POLA1 CABP4 HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY TP63 PHGDH PEX6 FOXP1 FGF10 SATB2 TET3 SIX5 PAX3 NOP10 UBR1 PIK3CD TFAP2A FREM1 FGFR2 COX7B KAT6A EYA1 PTDSS1 NDUFB11 SIX1 PRMT7 EP300 SLC25A24 HLA-DRB1 TAF1 BTNL2 TCOF1 SMC3 COL11A2 CREBBP TWIST1 NHP2 FGFR1 BCL10 KRAS KAT6B SOX6 FREM2 MBTPS2 PEX1 PAX1 SOX10 CD151 GJB6 SMCHD1 FGFR3 HCCS COL3A1 MALT1 GRIP1 IGSF3 KNSTRN BIRC3 KIF11 YY1 PSAT1 FRAS1 HP_ABNORMAL_PUPIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPIL_MORPHOLOGY POMT2 FOXC1 MAFB GMPPA CTBP1 SIN3A MAB21L2 NDP KRT25 RHOA FGFRL1 TINF2 COL4A1 LETM1 ADAMTSL4 CHN1 OVOL2 AAAS KRT74 ELP1 PIK3R1 ZEB1 MPZ DDX6 CPLX1 OCRL STIM1 COL8A2 VSX1 ZEB2 KRT71 CPAMD8 NSD2 GJA1 GRHL2 TMEM67 TBX2 FBN1 RB1 ARL6IP6 PTEN LIPH LPAR6 PITX2 COL3A1 LOXL1 RBP4 ATOH7 GPR143 SALL4 PHOX2B LAMB2 HP_MIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIOSIS PHYH HHAT SIX6 AP3D1 KIF1B PEX7 ORAI1 DDC NOTCH2NLC STIM1 CHRDL1 DNMBP HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT TMEM240 ATXN8OS SPG11 PDHB TULP1 ANO10 GNB1 TBCD ATP2B3 KCNC3 ATXN10 MAN2B1 PEX10 XRCC4 CACNA1G SETX FTL INPP5E PLA2G6 MRE11 GBA2 ATXN1 TMEM216 TBP TTBK2 PRKCG DPM2 PRNP RFC1 SYNE1 POLR3A STUB1 PAFAH1B1 ZFYVE26 PIK3R5 FMR1 STXBP1 STT3A FGF14 CACNA1A GJB1 TPP1 KCND3 EEF2 WARS2 SYT14 NOP56 ATXN3 TSEN54 ELOVL4 THG1L SPTBN2 DARS2 RUBCN POLR3B ITPR1 SCYL1 ATXN2 PMPCA SACS ALS2 ATN1 RARS1 HP_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLINDNESS NDUFA11 RHO LRP5 NDUFS4 SLC7A14 FKRP MFSD8 EIF2B1 GUCY2D FDXR SNRNP200 TOPORS SMARCE1 LONP1 WHRN EYS ALMS1 C1QTNF5 TMEM231 ATXN7 TIMMDC1 RD3 NDUFV1 BTNL2 SEMA4A ABCD1 NDUFS6 RP2 CTC1 RPGR PRPF4 IDH3A CNGB1 PDE6B CDH23 CTNS CREBBP SAG PRPS1 STAT4 HEXB IFT140 TBC1D24 BBS2 NRL IL23R IL10 FAS CEP164 POGZ PRPF31 SCAPER NDE1 POMT2 NDUFB10 GM2A C8orf37 PDE6A MTR MT-ND2 KIZ RP1L1 GNAQ BAP1 GJB2 CDH3 GNAT1 ITGA2B MT-ND1 SMARCB1 ARL2BP FRAS1 RP1 HPS1 LAMB2 KLHL7 AIPL1 FBN1 FZD4 BEST1 TIMP3 AHI1 LRAT CC2D2A ACTB POMGNT1 CLRN1 CNGA3 TMEM138 GP1BA CRX GALC PDGFB NLRP3 NDUFAF2 EIF2B2 MEN1 TMEM237 SDHAF1 POMK UBAC2 SDHA PROM1 NDUFA1 TMEM67 OAT EIF2B3 MT-ND3 SCN1A NDUFAF5 ZNF513 AKT1 NDUFAF3 HLA-DRB1 CLCN7 RPE65 IL12A PCARE POMT1 NDUFS3 NSMCE2 NAA10 NDUFB11 IMPG2 RP9 NDUFB3 DHX37 ATIC PANK2 IL12A-AS1 GRIP1 MT-ATP6 ASPA NDUFA6 ITGA2 FSCN2 C4A NDP AHR NDUFV2 NF2 MAK TNFSF11 IFT172 SMO PDE6G CRB1 ARL6 FKTN TRAF7 TERT NDUFAF1 PGK1 KIAA1549 NEK2 PROS1 SDHD HSD17B10 SPATA7 PRPF3 CERKL FOXRED1 PRCD ITGB3 ATP1A3 UFM1 EIF2B4 IFT88 BCOR RDH12 PSAP CCR1 NF1 SARDH TMEM126B COL2A1 GMPPB SMCHD1 RGR TULP1 IMPDH1 DHX38 NDUFS1 ATRX TMEM216 NDUFS8 PDHA1 EIF2B5 PQBP1 PIK3R2 TTC8 B4GAT1 RLBP1 CNGA1 NR2E3 SUFU FLVCR1 CAPN5 NUBPL KIF11 CLN3 POLG LARGE1 PRPH2 XRCC4 NDUFB9 REEP6 ERAP1 TLR4 COX7B CD109 ARL3 ZNF423 MTRR NDUFAF4 PPT1 GUCA1B IDH3B GP1BB NDUFS7 TCIRG1 USH2A PLA2G6 AIP AGBL5 TUB SREBF1 ARHGEF18 PLG FAM161A SLC52A2 CDHR1 PRPF6 PITX3 MERTK PLOD1 OPA3 BMP4 HEXA MEFV HLA-B B3GALNT2 KLRC4 FREM2 ROM1 ZNF408 HGSNAT ADAMTS10 SLC24A1 PRPF8 NDUFAF8 KIF14 RBP3 CA4 HCCS SDHB GNAS CEP290 MTTP PIK3CA OFD1 ABCA4 DHDDS ARNT2 PEX6 NDUFS2 HP_DACRYOCYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DACRYOCYSTITIS FGF10 SATB2 PRMT7 FGFR3 BTNL2 FGFR2 IGSF3 TP63 HLA-DRB1 HP_ENTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTROPION ERCC6 ERCC5 ZMPSTE24 ERCC3 ATP6V1A TP63 DDB2 ERCC2 LMNA ERCC4 GMNN XPC POLR3A POLH ATP6V1E1 ALDH1A3 XPA HLA-B IKZF1 PPP2R1A HP_BLURRED_VISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLURRED_VISION ABCA1 MT-ND1 MT-ND4 NLRP3 DBH MT-ND5 COL8A2 MT-CO1 ATP1A2 SLC12A3 VSX1 TACSTD2 NDUFS2 GRHL2 MT-CO3 MAPT HLA-DRB1 MT-ATP6 CLCNKB HLA-A MT-CYB COL4A1 MT-ND2 SCN9A MT-ND4L APOA1 NOP56 MT-ND6 KCNA1 OVOL2 ZEB1 CACNA1A HP_SUPRANUCLEAR_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA ATXN1 ATXN3 ATXN2 ATXN7 GBA HP_POSTERIOR_EMBRYOTOXON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_EMBRYOTOXON FOXC1 CLIP2 PEX11B TBL2 DGCR8 YAP1 PAX6 PEX5 TBX1 COX7B PEX26 PEX12 PITX2 DGCR6 GP1BB PEX13 ARVCF NDUFB11 COMT NOTCH2 UFD1 PEX19 PEX6 PIK3R1 JAG1 BAZ1B LIMK1 ELN PEX2 SEC24C GTF2IRD1 GTF2I ESS2 RREB1 PEX10 RFC2 PEX1 HCCS PEX3 HIRA PEX16 JMJD1C DGCR2 PEX14 SLC38A8 HP_PERIORBITAL_FULLNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIORBITAL_FULLNESS FGF10 PPP2CA RBMX PCGF2 FGFR2 YY1 ZNF41 ARX CHD1 PTCHD1 TWIST2 DOCK7 DMD UPF3B ZNF81 TSPAN7 RAB39B MAB21L2 GDI1 PAK3 SLC9A7 USP9X FRMPD4 NRAS TUBB IQSEC2 ELN MLXIPL VPS33A SYP USP27X MECP2 CXorf56 MID2 FTSJ1 TASP1 ARHGEF6 HRAS RPS6KA3 AGTR2 ZNF711 MED12 KMT2E ACSL4 CNKSR2 IL1RAPL1 FGFR3 GNE HCFC1 DLG3 GATAD2B CLCN4 WDR4 MED13 PEX19 ALG13 HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY CLIP2 TBL2 SMPD1 FZD4 BEST1 IGFBP7 TBX1 NEU1 CYP1B1 LRP5 ABCC6 GP1BB TULP1 COL4A1 ARVCF MT-CYB COMT UFD1 MT-ND4L GM2A ELN PSAP MLXIPL MT-ND5 SELENOI BAZ1B HEXA LIMK1 GLB1 HEXB CTSA ASAH1 SEC24C MT-ATP6 ENPP1 MT-ND4 GTF2IRD1 GTF2I MYOC RREB1 MT-CO3 MT-ND2 PRPF3 NEK1 RFC2 TMEM231 MT-ND1 HIRA JMJD1C MT-ND6 GALC NDP HP_RETINAL_ARTERIAL_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIAL_TORTUOSITY MT-ND6 NEK1 MT-ATP6 MT-ND1 MT-ND4L MT-ND5 SELENOI MT-CO3 MT-CYB MT-ND2 MT-ND4 HP_LACRIMATION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMATION_ABNORMALITY CLIP2 FGF10 TBL2 NOP10 ERCC6 SOX4 SLC12A2 KRT12 FGFR2 ERCC4 EYA1 TP63 GMPPA ALX4 DPF2 CHD7 MAPT NGLY1 TRAPPC11 ARID2 SMARCE1 HLA-DRB1 MADD SDHD SLC39A14 PAX3 SREBF1 ARID1B LRP1 COL17A1 SMARCA4 SOX10 OVOL2 NHP2 AAAS ELP1 ARID1A SCN9A ZEB1 SIX1 ERCC8 BAZ1B LIMK1 PIGQ ELN OCRL SOX11 NLRP3 LIFR COL8A2 VSX1 TINF2 GTF2IRD1 GTF2I AP1B1 PAX1 SETBP1 GRHL2 SMARCD1 KRT3 SMARCC2 TWIST2 CLDN10 RFC2 FGFR3 UBR1 IGSF3 SEMA3E SMARCB1 DKC1 SEMA4A DST HP_DECREASED_LACRIMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LACRIMATION PIGQ FGF10 ELP1 ERCC6 SLC12A2 FGFR2 ERCC4 NGLY1 GMPPA ALX4 AP1B1 PAX1 SETBP1 MAPT ERCC8 TRAPPC11 MADD CLDN10 FGFR3 SOX10 AAAS DST HP_BLUE_IRIDES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_IRIDES BAZ1B UROC1 CLIP2 LIMK1 ELN TBL2 HERC2 TYRP1 TYR EDNRB GTF2IRD1 PAX3 GTF2I SOS1 SOX10 MC1R OCA2 PDE4D PRKAR1A RFC2 PAH UBE3A MITF TP63 MAPK1 MLXIPL SLC45A2 EDN3 HP_UPPER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EYELID_COLOBOMA TWIST1 SLC25A24 ALX1 TCOF1 FREM1 FRAS1 HP_LONG_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PALPEBRAL_FISSURE KDM6A MIR140 PIGW OTUD6B ZNF41 PIGY PGAP3 WNT5A ARX PTCHD1 DMD UPF3B ZNF81 TSPAN7 RAB39B PGAP2 PIGV GDI1 PAK3 ROR2 KRAS RNU4ATAC SLC9A7 NXN CLP1 DVL1 USP9X FRMPD4 HNRNPK KMT2D IQSEC2 ADNP PDE4D CCNK SYP USP27X DVL3 MECP2 ACTB BRAF CXorf56 PIGO MID2 FTSJ1 PIGL ANKRD11 RAC1 SPOP ARHGEF6 ACTG1 RPS6KA3 AGTR2 ZNF711 MED12 BMP1 PURA PIK3R2 WAC ACSL4 CNKSR2 IL1RAPL1 MAP2K1 FZD2 FIBP HCFC1 PCLO DLG3 GATAD2B CLCN4 MAP2K2 CAMK2G ALG13 HP_GAZE_EVOKED_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_NYSTAGMUS VLDLR SPG11 UBAP1 ATXN3 ATXN10 SETX FGF14 CACNA1A WWOX MRE11 GRID2 ATXN1 SCN8A TBP CACNB4 PMPCA PRKCG APTX SLC1A3 SACS RFC1 STUB1 PIK3R5 ATP1A2 BEAN1 COQ2 GRM1 AFG3L2 SYT14 SCN1A CACNA1G THG1L TDP1 PRRT2 SOX3 PAX7 ITPR1 ATXN2 UROC1 KCND3 SPTBN2 HP_DYSMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIC_SACCADES ATXN1 FGF14 UBAP1 ANO10 ITPR1 TPP1 EEF2 SCYL1 ATXN2 PEX10 SPTBN2 AFG3L2 ATXN8OS ATXN3 TGM6 MRE11 MFN2 HP_RED_GREEN_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_GREEN_DYSCHROMATOPSIA ACO2 OPA1 FGF14 OPN1MW NR2E3 OPA3 OPN1LW HP_AMBLYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBLYOPIA LAMA1 NFIX PIGN COX7B EPRS1 COL9A1 AP4M1 MAFB CRYAA COL11A1 SMAD4 ARHGEF2 FGFR3 ZMIZ1 FGFR2 TWIST1 NDUFB11 GPR143 CRYGC KAT6A ACVRL1 SCN8A COL4A1 TUBB3 LOXL3 TBX1 ADAMTSL4 CHN1 WDR26 ELN MAP3K7 ADNP MLXIPL PHOX2A NPHP4 OGT AFF4 C1QBP PITX2 NR2F1 MED25 TRIO ZEB1 SMCHD1 SOBP OCRL P4HTM FLNA COL8A2 TASP1 VSX1 PUF60 B3GAT3 RIC1 WARS2 CHST3 CBS H1-4 DPP6 GRHL2 FBN1 AP4E1 AP4S1 LIM2 ENG WAC ERF TANGO2 HCCS YME1L1 RRAS2 CRYBB1 COL9A2 AP4B1 KIF11 PAX6 NF2 SALL4 COL9A3 RORA XYLT2 GDF2 OVOL2 DYRK1A HP_SCLEROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROCORNEA RAX TMEM107 CC2D2A SOX2 SLC25A24 HCCS TCTN2 PAX6 COX7B FIG4 SCARF2 BMP4 TMEM216 PXDN NDUFB11 NSD2 FGFR1 MAB21L2 NDP FOXE3 NELFA WDPCP TMEM231 LETM1 B9D2 TBX1 TMEM67 RPGRIP1 CEP290 DHCR7 PRDM5 MKS1 HMX1 RPGRIP1L CSPP1 CEP55 CENPF B9D1 VAC14 TENM3 HP_OPTIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_ATROPHY RHO NDUFA4 PDHX TRAK1 FKRP NDUFA13 WFS1 MCOLN1 ERCC3 FDXR ATRX ACOX1 SLC1A2 XPC DDB2 CCDC22 MMACHC PEX6 KANSL1 CEP55 NEDD4L SAG POGZ FGFR2 DNMT1 NMNAT1 TBC1D20 FKTN ARSA IFT140 CTNNB1 FRMPD4 TSC2 CBS PEX10 MT-TQ SEC23A C8orf37 BRAT1 ERF NDUFA12 ALG3 MT-TV RPIA TANGO2 B3GALNT2 PDHA1 RP1 FDX2 TMEM107 PCYT2 EPG5 MT-ND5 SLC19A2 GABRA2 AHI1 FXN PEX5 TWNK PEX26 GP1BB TIMM50 MTO1 NELFA TXN2 MT-ND6 ERCC5 MYO5A MKS1 NUP62 GLB1 ERCC8 RAB3GAP2 TRAF7 MT-ND4 ZNF513 GPAA1 CLCN7 MT-TL1 PCARE NDUFS2 MTFMT CKAP2L CACNA1A ATP1A3 C12orf65 NARS2 SLC44A1 PANK2 ATAD3A GALC TACO1 DHCR7 NDUFA9 NDP YWHAG POMGNT1 KIF7 TNFSF11 PTCD3 PEX12 KCNC3 EPRS1 CISD2 POMK DIAPH1 RECQL4 NEK2 TRAPPC11 LRP5 POMT1 COMT KCNB1 IFT88 FA2H RFC1 TBC1D7 MT-TF TUBGCP6 GMPPB ERCC2 GNA11 AUH RGR AARS1 IMPDH1 SERAC1 TCTN2 IFT172 GRIN2D GLA NDUFAF6 MT-ND2 TNFRSF11A FGFR3 RAB23 PIK3CA MAP2K1 L2HGDH FLVCR1 OPA1 B3GLCT DNM1L NDUFV2 NUS1 UBE3B SNX10 RBM10 NDUFA11 KLC2 RAB3GAP1 WNT3 TCIRG1 PIEZO2 USH2A SLC19A3 AGBL5 NDUFB8 LRP4 ARHGEF18 NDUFAF4 GJA1 GEMIN4 GLRX5 MT-TW GABRA5 DAG1 ANTXR1 BRAF SDHA RBP3 CA4 ERCC4 SLC29A3 INTS8 NAGA MICU1 COA8 SELENOI RERE SEC31A PEX11B SLC7A14 SURF1 NTRK2 SNRNP200 TOPORS ACO2 SUMF1 SEMA4A CASR UFD1 IDH3A VPS53 POLR3A MT-ATP6 ERCC6 GABRB2 TBC1D24 BBS2 SZT2 TSC1 ADAM22 STXBP1 THG1L PDE6A DARS2 PRPS1 MTHFR TGFB1 PEX13 SLC25A46 CRPPA MT-TS2 NALCN PEX14 B9D1 KLHL7 C19orf12 KIF1A LRAT DENND5A TFG WASHC5 BCAP31 HCN1 CDK19 SON CNOT3 MT-ND4L PEX1 NR2F1 PLP1 BOLA3 POLR3B LIPT1 CEP290 INPP5K JMJD1C MT-CYB AHR PLA2G6 MAK MFN2 MT-ND1 MMUT ZNF592 MT-CO3 TWIST1 HSD17B10 KRAS TMEM231 EIF2B4 DNAJC19 TBCD NFIX CASK OPA3 EBP PLEKHM1 SARDH PORCN CC2D2A PLAA P4HTM DHX38 POLG TMTC3 SH3BP2 TOE1 MOGS SOST RLBP1 FSCN2 CNGA1 PEX3 NR2E3 PRDM16 SOX5 PEX16 LARGE1 CSF1R MT-TH KIF11 COX15 ASPA REEP6 SLC13A5 YAP1 IDH3B CHD7 ARVCF IER3IP1 WDR73 WDPCP BEST1 SLC39A14 CYFIP2 IBA57 PSAP PRPF31 ADA2 RPGRIP1L MERTK PDSS1 ROM1 EEF1A2 LAMB1 TIMM8A PRPF8 TMEM126A GRN NDUFS4 POMGNT2 PIGU PCLO ARX STAMBP IDS DKC1 PEX2 DHDDS DPM1 ARV1 PCK1 ABHD12 TBX1 PEX19 SCYL2 GABRG2 EYS WWOX FCSK RP2 RPGRIP1 RPGR PRPF4 NDUFAF2 PDE6B VCAN ZNHIT3 NECAP1 DGUOK SPG7 SEC24C NRL CNNM4 PTPN22 ISCA2 PET100 GTPBP2 NEU1 SCN8A MPDU1 RSPO2 WARS2 MT-CO1 AFG3L2 GNAQ PLK4 SEMA3E TBCE PRUNE1 SSBP1 ARL2BP MAG CLRN1 NGLY1 EIF2B2 TNFRSF11B HIKESHI POMT2 AGXT EIF2B3 RAB18 MICOS13 SCN3A AFF4 KCNA2 RP9 ATIC YME1L1 PRICKLE3 MT-TK NDUFV1 ATXN7 RAB11B ARL6 DPYD GMPPA TMEM216 KIAA1549 ECHS1 CERKL LETM1 FOXRED1 AAAS COL4A1 NDUFAF3 MPLKIP NLRP3 AMPD2 ZEB2 OSTM1 TTC8 KCNAB2 GJC2 CA2 BTD NOTCH2NLC MT-RNR1 SYNJ1 ST3GAL5 TK2 MT-TP NDUFS7 NDUFAF8 NDUFA6 KAT6A PPT1 CDC42 RPE65 UBA5 STT3B DPM2 CDHR1 CNKSR2 GABRD NT5C2 ATP6V1A NDUFAF5 ZNF408 SLC25A19 HGSNAT PARS2 ACTL6B DNM1 ABCA4 TSFM NDUFA2 RPS6KA3 MFSD8 EIF2B1 CHSY1 MTPAP COG6 DOCK6 CTC1 CNGB1 ELP1 VPS33A NDUFA10 RXYLT1 MRPS34 SRD5A3 CFAP410 FLRT1 SCAPER NSD2 VPS13B RREB1 KIZ RP1L1 HIRA CLTC ADAR CRX CLP1 SNAP29 SYNGAP1 MT-TN TRAPPC12 POU3F4 TMEM63A SKI PROM1 TUBGCP2 XPA TUBB4A ATXN1 NDUFS8 IMPG2 VPS11 NDUFS1 KCTD7 PRKAR1A SMOC1 SCYL1 MAP2K2 PAX6 PDE6G CRB1 NIPBL SIL1 FGF12 CYP7B1 NBAS SPATA7 PRPF3 PRCD EMC1 MECR MGP RDH12 ALG13 TULP1 DALRD3 NDUFS3 MFF SLC6A9 PPP3CA EIF2B5 B9D2 AP3B2 ACADS CCDC88A CLN3 PRPH2 SLC52A2 UCHL1 RNF216 ARL3 FH HUWE1 GUCA1B MPDZ TUB RHOA PNPLA6 TMEM67 FAM161A WDR4 TUBGCP4 CACNA1B PRPF6 CSPP1 IKBKG WDR45 HK1 MT-ND3 OFD1 B4GAT1 ERCC1 MT-CO2 SCO2 HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS TBC1D20 PDSS2 CLCN7 COX6B1 ERCC6 RAB3GAP1 ARSA ELOVL4 SUCLA2 ARHGEF2 GALC PLA2G6 FXN PRPS1 TTPA CNGB3 RDH11 OPA1 EMC1 PSAP TCIRG1 AAAS POLG RAB3GAP2 NDRG1 ZNHIT3 SCAPER POGZ TNFSF11 ERCC8 RAB18 ATXN1 TYR TIMM8A PROM1 COQ2 LAMA2 PRPH2 MFN2 ACOX1 NOTCH3 ABCA4 GJC2 SNX10 MFF POMGNT1 HP_DIPLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIPLOPIA AK9 MUSK VAMP1 CHRNA1 VPS13C SLC2A1 ANO10 ERCC4 SLC25A1 CHRND UCHL1 PODXL CACNA1A SLC1A3 HLA-DRB1 LRRK2 COL13A1 VPS35 DNAJC13 CDH23 CHRNB1 ERCC2 STAT6 TOP3A PINK1 KCND3 PTPN22 SCN1A HTRA2 DNAJC6 ATXN3 CACNA1G AGRN DARS2 TPP1 RAPSN SNCA ERCC3 SYT2 MAPT PDCD1 SYNJ1 TMEM240 PRNP LRP4 ATP1A2 CHRNE PUM1 SCN4A AIP MEN1 SNAP25 ERCC5 DKK1 SERPINI1 SAG KCNA1 SLC5A7 DOK7 MYO9A GRK1 GIGYF2 EIF4G1 CHAT MYO5A TGFB1 PRKN NAB2 PRRT2 SPTBN2 PARK7 NFKB2 NF2 NOP56 GBA SLC18A3 HLA-DQB1 HP_LOWER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EYELID_COLOBOMA POLR1B EDNRA SF3B4 TXNL4A TCOF1 POLR1C HP_SPARSE_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYELASHES SNRPE SOX18 NOP10 EDAR DPH1 CST6 KREMEN1 NF1 ALX1 ALX4 SF3B4 LIPH ODC1 DSP EDARADD LPAR6 LMNA SPINK5 EPS8L3 NECTIN4 TCOF1 DSG4 RMRP HR POLR3A DLX4 DOLK NHP2 RPL21 CDH3 GJB2 APCDD1 TRPS1 TP63 VAC14 TSR2 EDNRA MPLKIP LSS EDA EBP B4GALT7 ZMPSTE24 FIG4 GTPBP2 ANTXR1 KANK2 GJA1 GJB6 TWIST2 RNU4ATAC KRT25 WDR35 CWC27 CLDN1 ITGA3 BLM DKC1 COL11A1 NECTIN1 KRT74 MBTPS2 BANF1 TMCO1 HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE LARGE1 USP45 RGR MCOLN1 RHO IDH3B GUCY2D BEST1 ALG3 RPE65 IDS PPT1 LRAT SAG POMGNT1 ACOX1 HP_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTROPION ALOX12B KDM6A GTF2H5 ALOXE3 CD28 DHODH ITGB4 TGM1 ABCA12 CDH1 ERCC3 RNF113A SULT2B1 DDB2 ERCC2 NIPAL4 CDC42 PNPLA1 GATA1 GBA APC TWIST2 CARD14 LRP4 CTLA4 FLI1 XPC HNRNPK FOXC2 POLR3A KMT2D DLX4 CTNND1 XPA ITGA6 ERCC6 ABHD5 ERCC5 MPLKIP GTF2E2 LIPN UROS GRIA3 CERS3 ABCA1 TNFRSF1B ERCC4 PLEC POLH TARS1 MBTPS2 CYP4F22 FERMT1 SDR9C7 HP_OCULOMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_APRAXIA RPGRIP1L KDM1A LAMA1 PIGW CACNA1G SQSTM1 ABCA7 INPP5E CC2D2A PGAP3 ARMC9 ARL13B MAPT CEP41 CSPP1 KIAA1109 SETX NPHP1 PDE6D PGAP2 IFT172 CEP104 MKS1 ABCD1 PIK3R5 B9D1 TOMM40 STUB1 TCTN1 TYROBP CRKL ARL3 TMEM107 GBA XRCC1 DLAT TREM2 ZC4H2 KATNIP TMEM67 AFG3L2 EXOSC3 KIAA0586 TMEM138 MAPK1 PIGY MYO9A TPP1 SLC30A9 SPR AHI1 CPLANE1 PEX2 BCR TMEM237 PNKP TMEM231 CEP120 DNM1L NGLY1 MRE11 TCTN2 TMEM216 FA2H PSEN1 ITPR1 UFC1 PMPCA APTX TOE1 PSEN2 PIBF1 APP PIGV PIGO PIGL GPAA1 BRAF GRID2 MAST1 SORL1 SOX3 CEP290 ATXN2 SUFU TUBB3 RORA HYLS1 CWF19L1 HP_EYELID_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_APRAXIA ATP13A2 MAPT PANK2 PLA2G6 SYNJ1 HP_PETERS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETERS_ANOMALY POMT2 FOXC1 B3GLCT PAX6 FKTN CYP1B1 PITX2 TRIM44 POMT1 NCAPG2 FOXE3 WDR37 PITX3 CRPPA RERE CDH2 FKRP CENPF LARGE1 HP_LIPEMIA_RETINALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPEMIA_RETINALIS SLC37A4 APOC2 LPL GPIHBP1 G6PC HP_NYCTALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYCTALOPIA SAG RHO KIAA1549 RLBP1 SLC7A14 AP3D1 GUCY2D PDE6G MMP19 SNRNP200 TOPORS PEX19 MFN2 DRAM2 EYS GNB3 C1QTNF5 PROM1 TTPA PRPF4 SEMA4A ARHGEF18 RNU4ATAC RP2 PEX5 ROM1 RPGR IDH3A CNGB1 PDE6B BBS4 CLRN1 NMNAT1 PRPH2 IFT140 ARL3 BBS2 NRL MYO7A HADHA GRK1 PEX1 ZNF513 CACNA1F CNGA1 RPGRIP1 PRPF31 SCAPER KCNV2 PEX10 PRPF3 OPN1LW C8orf37 PDE6A ABCA4 ELOVL4 KIF3B WHRN KIZ RP1L1 CRB1 USH2A ARL6 HARS1 GNAT1 PEX14 CDH23 ARL2BP MYO6 RP1 KLHL7 AIPL1 RBP3 BEST1 AHI1 TULP1 LRAT CACNA2D4 CRX RPE65 PCARE POMGNT1 USH1C ADGRV1 AGBL5 CNGB3 MFRP UNC119 PEX13 PEX26 CHM COG4 TRPM1 RAX2 POU3F4 GUCA1A OAT CDHR1 STIM1 POC1B GRM6 FLVCR1 HGSNAT GGCX ESPN IMPG2 CIB2 SPATA7 RP9 FSCN2 PITPNM3 AHR PRPF8 PCYT1A TTC8 MAK HSD3B7 PEX11B VPS13B USH1G PEX12 ZNF408 HK1 CYP4V2 RDH5 MVK SLC24A1 CLCC1 NEK2 PEX7 IFT172 CERKL PRCD RAB28 KCNJ13 IFT88 NYX PDZD7 TTLL5 IDS RDH12 CFAP410 OPN1MW ITM2B PCDH15 LRIT3 ADAM9 MT-TS2 RGR PEX6 IMPDH1 DHX38 CEP78 NR2E3 GPR179 FGFR2 PEX16 RIMS1 PDE6H REEP6 CABP4 GUCA1B IDH3B MERTK TUB FAM161A RDH11 PEX3 TRNT1 PRPF6 CNGA3 CA4 PHYH CNNM4 CWC27 MTTP OFD1 ATF6 PEX2 ARSG TRAPPC9 DHDDS HP_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_NYSTAGMUS TBC1D24 KIF1C NFIX LYST ANO10 ADAR LRP5 PLP1 IARS2 CACNA1G HARS1 GCH1 CACNA1A DNM1L ALDH18A1 GPR143 GRID2 GRM1 OPA1 TTBK2 FA2H DAB1 HPS4 MT-ATP6 SACS HPS5 ATP13A2 PET100 TAF2 STUB1 NUP62 ATP1A2 CNGB3 BEAN1 ALG13 COQ5 FRMD7 SIX6 SYT14 SCN1A MRPL12 AP3B1 TMEM126A KCNV2 HPS3 SNIP1 IQSEC2 THG1L LARGE1 MARS2 PRRT2 ERLIN2 SOX3 PAX7 BLOC1S3 POLR3B DPP6 ITPR1 TPP1 SPTBN2 UROC1 KCND3 SURF1 AIFM1 GBA MAB21L1 CWF19L1 HP_PHTHISIS_BULBI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHTHISIS_BULBI SETD5 HDAC8 KMT2A COL18A1 LRP5 ATOH7 MARK3 RAD21 SMC3 NIPBL SMC1A BCOR CDH11 HP_HYPODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPODONTIA TP63 CLIP2 HSPA9 ARV1 TBX3 RPS6KA3 TRAK1 CHSY1 CDH1 EVC NTRK2 XYLT1 IFT122 KDM6A GABRG2 WNT5A SLC1A2 APC RTEL1 RMRP PIGL POLR3A MLXIPL KDF1 GABRB2 WDR35 CKAP2L TRPV3 LEMD3 NECAP1 TERT POLR3B CPLX1 FOXC1 ADAMTS2 IRF6 GTF2IRD1 SZT2 GTF2I DNAJC21 SCN8A NSD2 PIK3R1 MSX1 IKBKG STXBP1 RFC2 C8orf37 RBM28 CLDN1 EP300 FLNB GLI1 NECTIN1 CEP85L LAMB3 GDF5 FGF10 LAMA3 TBL2 CLTC EDAR GABRA2 TRIM37 RNF13 WNT10A NELFA LRP4 HCN1 CDK19 SYNGAP1 CREBBP ITGB4 ATP6V1B2 DVL3 DYNC2LI1 ATP6V1A BCL11B LIMK1 SETD2 TRIO SCN3A FGF3 DVL1 KCNA2 EVC2 CACNA1A EDA CTC1 ACOX1 PRKAR1A ARL6 FGFR3 PITX2 WRAP53 FZD2 NHP2 IRX5 YWHAG DKC1 EDARADD KIF1C CEP152 FGFR2 TERC FGF12 DDX59 LETM1 NXN KCNB1 HMGA2 BBS1 PUS7 OFD1 PORCN USB1 AARS1 IFT43 DALRD3 GRIN2D SLC13A5 APC2 WDR19 CCDC28B PPP3CA NFKBIA KCNN3 KCNH1 NKX2-1 AP3B2 MBTPS2 PARN ZMPSTE24 MTX2 CTSK SYNJ1 NUS1 TINF2 PRKACB NPM1 FGD1 TRAF6 PTH1R CTBP1 TSPEAR IFT52 ROR2 FGFRL1 NSD1 CYFIP2 WWOX PERP UBA5 ELN KMT2D CACNA1B CNKSR2 PPP2R3C BAZ1B SLC39A13 LAMC2 POLR1C GABRA5 GRHL3 EEF1A2 NOP10 COL17A1 GRHL2 POP1 PARS2 ACTL6B DNM1 DHDDS LMNA HP_CARIOUS_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARIOUS_TEETH ABL1 KLK4 CLIP2 TBCE RECQL4 NOP10 COL17A1 CDH11 TBX1 FGFR2 LAMC2 CDH3 ERCC3 RNF113A ERCC6 TP63 AGA TRPS1 CRLF1 EP300 TERC ATP6V0A2 LAMB3 COMT IFIH1 ATR RTEL1 UFD1 PDZD7 SBDS MAPRE2 MKRN3 SNORD115-1 TERT TRPV3 MYO7A B3GALT6 USB1 GALNS CTNND1 GJA1 OCRL PTCH1 SEC24C GTF2E2 ACP4 GTF2IRD1 PEPD GTF2I RBM28 CREBBP PAX1 CAV1 AP3B1 RREB1 DNAJC21 THOC6 SEC23A PTEN COX4I2 RFC2 LAMA3 MBTPS2 SGMS2 WHRN PARN HIRA TGFB1 PTCH2 USH2A PPP1CB ERCC2 CA2 COG6 ALPL TARS1 CTSK FERMT1 AKT1 APC KRT14 GTF2H5 FGF10 RUNX2 TINF2 TBL2 ATP6V1A NPM1 COL7A1 SNRPN FAM111A GLB1 ERCC8 GP1BB TCIRG1 EFL1 ARVCF PWRN1 ADGRV1 HERC2 PERP NHP2 ITGB4 CDH1 NDN SHOC2 SFRP4 SUFU FGF3 PWAR1 GJB6 SRP54 HLA-DRB1 IRF5 BAZ1B VDR LIMK1 NECTIN1 ELN MMP13 MPLKIP ANAPC1 MMP1 CCN2 CLCN7 CCR6 SLC10A7 CTC1 ATP6V1E1 FGFR3 SLC24A4 COL3A1 WRAP53 MAGEL2 CNNM4 IFT52 GJB2 NPAP1 ENPP1 PLEC JMJD1C COL2A1 DKC1 OFD1 SNORD116-1 TNFSF11 UBE3B HP_ANODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANODONTIA EDA ERCC6 NECTIN1 FLNA EDAR GRHL3 FZD2 DCAF17 ERCC4 DVL3 IFT122 DVL1 EDARADD WNT5A RPS6KA3 ERCC8 ERCC1 HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR KCNMA1 BRF1 COL11A1 GJA1 FARS2 TBC1D24 GRIA3 CTCF VPS13B HP_ABNORMALITY_OF_THE_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INCISOR KCNMA1 TDGF1 NODAL ZIC2 SHH CDON CHSY1 FGFR2 FGFR1 STAG2 ATRX DLL1 TP63 DOCK7 NHS DISP1 TGIF1 FOXH1 PTCH1 SIX3 EIF4A3 KMT2E DNMT3A MYT1L BCOR SMC1A DLX4 GAS1 TRMT1 ACTL6B IKBKG DLG1 NECTIN1 ANKRD11 FBXW11 COL11A1 BMP4 SVBP TBC1D24 MED13 CREBBP GJA1 EVC IRF6 CTCF CCBE1 ACTL6A TANC2 FGF8 DYNC2LI1 EP300 GLI2 GLI1 MSX1 BLM SUFU B3GLCT FGF10 BRF1 DLX3 WNT10A DOCK3 DDX6 RLIM BPTF RIPK4 STAG1 EVC2 CNOT1 PSMD12 ALX3 TUBGCP2 BCORL1 CDH1 GRIA3 NTNG1 TCF20 NAA10 PURA EDA NEK1 FGFR3 KCNK9 WDFY3 ARHGAP29 GATAD2B ZMIZ1 TRAPPC4 FARS2 VPS13B HP_OLIGODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODONTIA SLC25A24 CEP152 WNT10A CHSY1 KREMEN1 HUWE1 SH3BP2 SUMO1 PPP1R15B TGFA WNT5A LRP6 BCOR RHOA TRMT10A KCNJ2 WNT10B FLNA EDA ATP6V1B2 MAP3K7 POLR3A MSX1 DVL3 PORCN RPS6KA3 LTBP3 BCL11B SATB2 AXIN2 PAX9 PIK3C2A ANKRD11 POLR3B NEPRO IRF6 DVL1 FGFR1 CCBE1 MAF UBR1 HNRNPK TP63 CLDN1 PTHLH FZD2 EDARADD HP_DENTAL_CROWDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_CROWDING ABL1 PLCB4 MED12 XYLT1 SCARF2 WNT5A ASXL3 BCOR SMC1A NSDHL PYROXD1 KIF15 AMER1 BBS1 COL3A1 POLD1 RPL10 SHANK3 TECPR2 OCRL IL6ST NOTCH3 FLCN PEX6 ZEB2 CCDC28B CREBBP DHCR7 CBS GJA1 DSE GNAI3 TAB2 SOX5 SNX14 SETBP1 LMNA ZMPSTE24 C12orf57 EP300 PIGK BANF1 NONO FRAS1 IL1RAPL1 RPS6KA3 ATR SATB2 AMMECR1 PCGF2 TAF6 TRIM37 DDR2 TRPS1 LGI4 MYH3 MADD SETD5 DVL1 INSR UPF3B FBN1 ATP6V1E1 MASP1 PLOD1 SMS BMP2 TRIO ZDHHC9 EDNRA SPECC1L H19 FREM2 SET CCDC47 FGFR2 NAA10 EDN1 IGF2 COL1A2 ROR2 ARL6 LOX FGFR1 GRIP1 HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH ERCC6 FGF10 EDNRA FGFR3 RUNX2 FLII FGFR2 DEAF1 ERCC4 RAI1 IQSEC2 CTSK ERCC8 ERCC1 HP_DELAYED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_TEETH RPS6KA3 ERCC4 EVC WNT5A KCNH1 DMD ATP6V0A2 SH3PXD2B GDI1 BCOR ELMO2 FGD1 TWIST2 FAM20A FLII ARID1B SBDS TCIRG1 CYP27B1 ERCC6 IDS RAI1 TNFSF11 LIG4 CDH11 THRA OCRL HDAC8 ARHGEF6 TBC1D24 ZEB2 RIC1 SETBP1 PIK3R1 TNFRSF11A MSX1 NAA10 IKBKG SEC23A SEC24D DMP1 UBR1 GNAS PTHLH TGFB1 STAT3 SEMA3E GLI1 ADAMTSL1 DLG3 PRKAR1A GDF5 ROR2 FGF10 PDE4D IGF1 DEAF1 UPF3B SMC1A SETD5 GHR USP9X FGFR2 IQSEC2 CTSK MMP2 SMARCB1 SFRP4 ERCC1 SRP54 OBSL1 ERCC8 EDNRA CCBE1 ANAPC1 SETD2 CCDC8 CYP2R1 MED12 ACSL4 CHST3 FGFR3 ENPP1 SNX10 NPHS1 SMC3 FLNA RECQL4 ADAMTS3 NIPBL TRPS1 ZNF81 PAK3 STX16 MYSM1 POLR3A SYP MECP2 PORCN MID2 RUNX2 SLC13A5 APC2 AGTR2 ZNF711 GJA1 DNAJC21 CUL7 CNKSR2 KMT2A SNX14 POLR3B DYNC2LI1 ZMPSTE24 LONP1 TFAP2B SUOX ABCA5 CLCN4 EVC2 ALG13 NSUN2 AMMECR1 CLCN7 AMER1 ZNF41 TRIP11 PTCHD1 EFL1 CHD7 TSPAN7 RAB39B KAT6B NSD1 SLC9A7 FAT4 KCNJ2 ACP5 DVL1 FRMPD4 USP27X ARX FGF3 CXorf56 TP63 GJB6 VDR EDA2R PDGFRB SLC39A13 IL11RA ANTXR1 TRIO KCTD1 IL1RAPL1 SLC29A3 GJB2 FTSJ1 SP7 EDA HCFC1 PTCH1 RAD21 P4HB LMNA HP_HYPOPLASIA_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_TEETH IFT43 LAMB3 UBR1 COL17A1 GALNT3 ITGB6 FGFR2 LAMC2 ERCC4 ERCC3 RNF113A PCNT ERCC6 IFT122 DDX59 EDARADD AMELX STX16 TRMT10A COG6 NECTIN4 IFIH1 NUP133 ATR GNAS ALDH3A2 CYP27B1 PORCN GJA1 FAM20C ITGB4 MPLKIP RUNX2 GTF2E2 ACP4 ODAPH DNAJC21 EDAR SEC23A SMCHD1 LAMA3 LMNA LONP1 PLEC C12orf57 ERCC2 TARS1 MMP1 KRT14 GTF2H5 FGF10 PEX1 SLC12A2 NF1 ZMPSTE24 EP300 ERCC8 RHOA KCNJ2 PPP1R15B TTC7A CREBBP FLNB COL7A1 WNT10A ERCC1 ITGA6 VDR PIK3C2A AIRE CYP2R1 GRHL2 OCRL NEK1 FGFR3 AMBN ROGDI CLDN1 ENPP1 CSTB OFD1 KIF7 HP_WIDELY_SPACED_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_TEETH KDM1A LARP7 IFT43 RPS6KA3 CDH3 NIPBL AIP ERCC4 EIF2S3 IFT122 SHANK3 SIN3A KDM6A PIGA CHST3 NECTIN4 SMC1A TBCD SETD1A MAPK1 ERCC6 IDS MBD5 SSR4 SMARCA2 GALNS HDAC8 TBC1D24 ACP4 ZEB2 PIGS PIGL ZSWIM6 UBE3A DLX3 KMT2A B3GLCT ATRX IFT140 NONO MAN2B1 PCGF2 MED13L NARS1 CDC42 GPR101 GLB1 ADNP SETD5 TCF4 WDR26 KMT2D GUSB DYRK1A LTBP3 TP63 ERCC1 TBX4 RNF113A PRKD1 CDK19 FGF3 CCDC47 KANSL1 ACVR1 HK1 ERCC8 AIMP2 TANC2 RDH11 WDR35 IFT52 TBL1XR1 OCA2 CERT1 RAD21 SMC3 DPH1 HP_DENTAL_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_MALOCCLUSION KLK4 CHRNE CLIP2 LRP5 STAT4 RELT PLCB4 ITGB6 TRPS1 HSPG2 TCIRG1 PCYT1A ENAM MAP2K1 KDM6A SOST EP300 SHANK3 AMELX BCOR HNRNPK AMER1 MLXIPL PLEKHM1 PORCN DLG1 ASPH NECTIN1 FLNA CDH11 GNAS BMP4 SKI FLCN GTF2IRD1 GTF2I CREBBP PAX1 PIK3R1 MMP20 GJA1 SOS1 GNAI3 KCNN3 THOC6 SMCHD1 KCNH1 IL2RB RFC2 SMAD3 GLI2 CD247 CA2 RPS6KA3 MSX1 FRAS1 ANKRD55 FGFR2 ATR SATB2 BRF1 DSPP DVL3 TBL2 PCGF2 ERCC6 GPC3 PTPN22 GPC4 SH3BP2 CDC42 RDH11 RHOA FGFR3 ACP5 DLX4 PTPN11 MYOD1 FAM83H ATP6V1B2 ELN TP63 DPM2 BRAF FAT4 BMP2 OBSL1 DVL1 ERCC8 BAZ1B LIMK1 IL2RA IRF6 PTPN2 CDH1 SLC39A13 FREM2 GPR68 SH3PXD2B DCHS1 EDN1 PRKAR1A BRCA1 GRIP1 NOTCH2 IRX5 CLCN7 ARHGAP29 GFPT1 HP_MICRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRODONTIA CLIP2 RECQL4 NOP10 SMOC2 WNT10A CHSY1 CDH3 PCNT TP63 PITX2 TRPS1 IFT122 SUMO1 REV3L LAMB3 ATP6V0A2 KDM6A AMELX PIGA CHST3 EIF2AK3 SMC3 PDZD7 FOXC1 PIGL MAPRE2 CACNA1C EDA MAPK1 MLXIPL PIK3R1 WDR35 CKAP2L MYO7A B3GALT6 C1S PAX9 GJA1 KAT6B C1R FAM20C IFT43 WNT10B P4HB B3GAT3 GTF2IRD1 WDR19 GTF2I DNAJC21 IRF6 FGFR1 TWIST2 CTCF SEC23A DLX3 RFC2 UBR1 WHRN HEPHL1 EVC DYNC2LI1 USH2A GLI1 NECTIN1 IFT140 WDR4 EDARADD IDUA SATB2 UBE3B TBL2 EDAR PCGF2 TFAP2A SNRPN PLXND1 EYA1 TGFA SLC25A24 LRP6 IFT52 ADGRV1 MCOLN1 RHOA RBBP8 GHR NHP2 ATP6V1B2 ELN KMT2D MSX1 ORC1 LTBP3 BCL11B SIX1 AXIN2 BAZ1B LIMK1 EDA2R PIK3C2A ANAPC1 DPF2 PRKD1 FGF3 CCDC47 EVC2 SMARCAL1 COL3A1 TMCO1 HP_MISALIGNMENT_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISALIGNMENT_OF_TEETH ABL1 KDM1A CLIP2 IFT43 LRP5 STAT4 ITGB6 MED12 XYLT1 WNT5A ATRX IFT122 KDM6A FGFR3 SHANK3 NHS AMELX BCOR MLXIPL IDS MBD5 CDH11 OCRL HDAC8 BMP4 ADAMTS2 TBC1D24 PEX6 RIC1 SPART GTF2I DHCR7 PAX1 CBS PIK3R1 MMP20 DSE GNAI3 THOC6 EP300 ANKH RAB3GAP1 BPTF MSX1 FRAS1 B3GLCT PDE4D BRF1 TBL2 DLX3 FBN1 GPC3 TRIM37 SNX14 DDR2 ZMPSTE24 GLB1 ALKBH8 SMC1A ADNP SETD5 TCF4 MYOD1 CREBBP ATP6V1B2 UPF3B CDH3 MASP1 WDR26 BRAF TRIO ERCC1 SATB2 OBSL1 ERCC8 LIMK1 TP63 EDNRA SPECC1L CCDC47 KANSL1 IGF2 COL1A2 TANC2 ARL6 LOX RDH11 LBR SMS NOTCH2 IFT52 FZD2 CERT1 ARHGAP29 GFPT1 DVL3 SMC3 DPH1 KLK4 CHRNE LARP7 PLCB4 AIP POLR1C EIF2S3 HSPG2 MAP2K1 FGFR2 PIGA DNMT3A ASXL3 SETD1A OFD1 COL3A1 DLG1 ASPH SSR4 POLD1 FLNA SMCHD1 RPL10 TECPR2 IL6ST FLCN PSMD12 PIGS PIGL ZEB2 SOS1 UBE3A KCNN3 PTEN KCNH1 IFT57 C12orf57 GLI2 PIGK CD247 CA2 NONO IL1RAPL1 RUNX2 AMMECR1 MAN2B1 CDC42 AEBP1 TRPS1 LGI4 MAP3K7 ACP5 DVL1 NOTCH3 KMT2D ATP6V1E1 DPM2 LTBP3 ZDHHC9 RNF113A IL2RA ELN STAG1 SLC39A13 FREM2 FGF3 HNRNPK DCHS1 ERCC6 WDR35 TBL1XR1 RAD21 PACS1 LMNA KCNMA1 RPS6KA3 RELT CHSY1 MGAT2 ERCC4 TCIRG1 ENAM NECTIN4 USP9X MAPK1 KIF15 AMER1 POLR2A HMGB3 GNAS RAB3GAP2 SOBP GTF2IRD1 ZSWIM6 TAB2 IL2RB RFC2 SMAD3 IFT140 PRKAR1A ANKRD55 KDM5C ATR EYA1 NARS1 GPC4 GPR101 MYH3 SOX5 PRKACA DLX4 PTPN11 FAM83H INSR FAT4 TUBGCP2 PTH1R BMP2 IRF6 PTPN2 ANKRD11 CDH1 GPR68 SET CDK19 ACVR1 NAA10 EDN1 AIMP2 ROR2 BRCA1 FGFR1 GRIP1 COL5A1 IRX5 CNOT2 NIPBL SCARF2 PCYT1A SOST DOCK7 TWIST1 SIN3A CUL4B CHST3 NXN TBCD NSDHL PYROXD1 PLEKHM1 BBS1 PORCN NECTIN1 SMARCA2 GALNS SKI LAS1L ACP4 ACTL6B CCDC28B GJA1 KMT2A SETBP1 BANF1 DSPP PCGF2 TAF6 PTPN22 MED13L XRCC4 SH3BP2 MADD RAI1 RHOA GUSB DYRK1A ALX3 PLOD1 SIX1 TBX4 TCOF1 BAZ1B H19 PRKD1 ADAMTS10 HK1 SH3PXD2B POLR1D OCA2 CLCN7 GATAD2B UBE3B HP_NATAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NATAL_TOOTH BCL11B EHMT1 FAM20C SPECC1L GLI3 PTH1R KRT17 ZMPSTE24 EVC C2CD3 KDM6A CREBBP KDF1 INTU LMNA MKS1 KRT16 CEP120 JUP NEK1 DSP POLR3A FGFR2 KRT6B KMT2C EP300 AMER1 KRT6A CILK1 FLNA EVC2 HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH ROR2 FAM20A GJA1 NSD1 KCNJ2 RUNX2 SETD2 TBC1D24 APC2 TFAP2B ADAMTSL1 SMARCB1 NPHS1 CTSK HP_CONICAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_TOOTH B3GLCT FGF10 DHODH TP63 PRKACB WNT10A FGFR2 CDH1 PRKACA TSPEAR RHOA ATP6V0A2 NECTIN4 RUSC2 DLX4 EVC2 ATP6V1B2 ANAPC1 CTNND1 IKBKG DLG1 NECTIN1 SATB2 EVC IRF6 BMP4 EDA EDARADD FGF3 ALX4 NFKBIA MSX1 CCBE1 NEK1 FGFR3 DYNC2LI1 GLI1 ARHGAP29 HP_DIASTEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTEMA KCNMA1 HMGB3 KDM5C ANKRD11 STAG1 PACS1 CHSY1 MGAT2 ATRX ACTL6B NHS PRKACA RDH11 DNMT3A IFT57 GATAD2B ALX3 TUBGCP2 UBE3B HP_PERIODONTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODONTITIS LYST USB1 C1S SRP54 C1R TINF2 OCRL ELANE CTSC SLC35C1 NPM1 GFI1 GORAB CXCR4 CAT NOP10 FERMT1 AEBP1 AP3B1 TERC CTC1 COL3A1 WRAP53 PARN PLG RTEL1 ITGB2 NHP2 FGF3 DKC1 TCIRG1 NOTCH2 TERT HP_AMELOGENESIS_IMPERFECTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMELOGENESIS_IMPERFECTA KLK4 TMEM165 ENAM STIM1 PEX1 CNNM4 RELT ITGB6 ACP4 SLC13A5 ODAPH DNAJC21 MMP20 AMTN LAMB3 ORAI1 ROGDI AMELX SLC10A7 FAM20A WDR72 SLC24A4 DLX3 AMBN FAM83H LAMA3 CLDN19 LTBP3 HP_UNERUPTED_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNERUPTED_TOOTH SMCHD1 MAP3K7 APC FLNA IFIH1 TCF4 ZMPSTE24 FLNB ANTXR1 FGFR1 HOXD13 SH3BP2 PTH1R TRIO LMNA CDH11 HP_PSYCHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOSIS SLC7A7 PRDM8 GCLC PAK3 WFS1 FCGR2A MED12 NHLRC1 SPP1 TREX1 FTL CPOX PDGFRB ALDH18A1 NDP ATXN7 SH2B1 PTPN22 AIP PAH MMACHC MKRN3 SNORD115-1 HFE MT-ND1 ATP13A2 TBC1D7 ACADS MT-TF TREM2 MAGEL2 CACNA1A NPC2 ZFYVE26 SOBP NDN USP8 SNRPN C9orf72 MT-CO3 ALAD SPART CBS PDGFB TMEM106B MT-TQ ABCD1 DNMT1 SLC25A13 MT-CO1 TTC19 PCDH19 VPS13A MTHFR PSEN1 OCA2 PPOX DCAF17 MT-TS2 MYORG SLC20A2 CLN3 SLC6A19 FRRS1L FIG4 CHMP2B SQSTM1 MT-ND5 HMBS TWNK GSS GRN PWRN1 PRKAR1A CDH23 SIM1 PARK7 CTLA4 HERC2 MT-ND6 NAGS ALDH5A1 UPF3B PUS3 PWAR1 RPS6KA3 EPM2A ZDHHC9 KCNT1 SLC12A6 CLN8 MT-TW VCP GRIN2A MT-TL1 MECP2 FCGR2B MT-TH STAT4 MT-ND4 MAPT PANK2 GNAS NPC1 IRAK1 ITM2B NPAP1 PDE11A DNASE1 PRNP MT-CO2 SNORD116-1 HP_HYPERORALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERORALITY C9orf72 SNRPN MAPT CHMP2B SQSTM1 PSEN1 GRN VCP TMEM106B TREM2 UBE3A SHANK3 ATP10A HP_RESTLESSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESSNESS ACAT1 CLN8 VPS13C ABCA7 PAK3 HTT VAPB NDST1 IGF1R PPARGC1A UCHL1 MAPT GCSH LSS PODXL HSD17B10 TREM2 SLC2A3 LRRK2 VCP UNC13A SOD1 VPS35 MECP2 DNAJC13 CHCHD10 HNF1A GLT8D1 GRN HNF4A AFF2 TOMM40 NTNG1 CACNA1A PINK1 PRPH AMT ABCC8 EPHA4 HTRA2 DNAJC6 TMEM106B TSEN54 C9orf72 SLC25A13 SPAST TBK1 GLE1 PSEN1 SNCA MATR3 PRNP ZBTB20 FUS PTS PFN1 ANXA11 SUOX SYNJ1 DCX KDM5C SATB2 CHMP2B SQSTM1 EIF2S3 MED13L TSHR RNF13 UCP2 ATRX NEK1 DEAF1 PRKAR1A OPTN GABBR2 KCNJ11 UBQLN2 NAGS PON3 ADA2 ATXN2 CFAP410 BRAT1 PSEN2 APP TARDBP ERBB4 SLC19A3 CDKL5 GIGYF2 HMBS FIG4 EIF4G1 PON1 NEFH NGLY1 WAC HNRNPA1 PRKN TAF15 DAO STXBP1 SORL1 CCNF DCTN1 GNAS PDE11A GLDC PARK7 PON2 KIF11 GBA ANG COX10 ECE1 HP_EMOTIONAL_LABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMOTIONAL_LABILITY NDUFA4 TARDBP TRAF7 SURF1 TERT NDUFA13 VAPB ARSA EIF2B1 SPART PPARGC1A CTSF SMARCE1 FTL MTPAP SLC6A19 BCS1L HLA-DRB1 ECHS1 POLG UNC13A SOD1 CASR EIF2B4 FOXRED1 CHCHD10 GLT8D1 EPM2A DDC SARDH NDUFA10 TREM2 PRKACA GNA11 NDUFS3 PRPH LAS1L SLC39A4 NHLRC1 PET100 MTFMT EPHA4 NDUFAF6 B4GALNT1 EIF2B5 SDHA TACO1 C9orf72 TBK1 NDUFA12 SUFU GLE1 MED12 VPS13A MATR3 FUS BAP1 PFN1 ANXA11 PDCD1 PDHA1 SMARCB1 PSAP COX15 C19orf12 NDUFV2 NDUFS7 CHMP2B NF2 RNF168 PLA2G6 PDGFB NEK1 SLC19A3 PRNP OPTN EIF2B2 SCN8A UBQLN2 PON3 ATXN2 CFAP410 NDUFS2 HDAC8 EIF2B3 ERBB4 NDUFAF2 ELP1 AKT1 FIG4 NDUFAF5 PON1 NEFH HNRNPA1 NDUFS8 NTRK1 NDUFS1 TAF15 DAO CCNF PANK2 ATP1A3 LIPT1 DCTN1 LEPR PGK1 NDUFS4 VCP SQSTM1 PIK3CA NDUFA9 PON2 NDUFV1 ANG NDUFA2 SMO HLA-DQB1 HP_DEPRESSIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSIVITY DCPS IQSEC1 HTT CLIP2 NODAL VPS13C SQSTM1 CDKN1A WFS1 ATXN10 PPP2R2B PPARGC1A UCHL1 TBX1 PDGFRB SGCE PMS2 BCS1L VCP KRAS C12orf4 PAH DISP1 FUS THOC2 EPM2A MT-ND1 MAPT SIX3 DNMT1 PRKACA DGUOK PINK1 OCRL SEC24C MYO7A PTPN22 ATXN2 GTF2I GSN ABCA7 ADH1C FRRS1L MSTO1 MT-CO1 MSH6 WHRN GNAS VPS13A USH2A CRADD SLC20A2 SMC1A CEP85L EPCAM GABRA1 ABCB4 SHH MLH3 ARMC5 DCTN1 TBL2 MT-ND5 WASHC4 SLC45A1 GP1BB HTR2A TBK1 WDR11 ADGRV1 OPTN CSF1R MT-ND6 UBQLN2 SLC6A4 CARS1 CDON POLG2 FBXO31 LIMK1 GABRB3 PTCH1 CYP27A1 GRIK2 DLL1 SARS1 FIG4 KCTD17 GAS1 MT-TL1 CLN6 PER3 CIB2 DNAJC5 POLG NOTCH3 CCNF PANK2 FMO3 LRRK2 ATP13A2 PON2 PRNP PROK2 ZC3H14 GBA ZIC2 NSUN2 TDGF1 SPRY4 RRM2B AIP NR4A2 TREM2 TGIF1 SLC2A3 COMT PDZD7 TSC2 FA2H TBC1D7 CLCN4 EHMT1 MT-TF PCDH15 C9orf72 FGFR1 TWNK MED25 GNA11 MT-TL2 PER2 USP8 CRKL KISS1R CDKN2B MT-CO3 HLA-DQB1 PGAP1 GLA TREX1 DNAJC6 MAN1B1 ABCB11 MAPK1 EDC3 FGF8 TAC3 FGF17 DNA2 TOR1A FMR1 CISD2 ESPN TACR3 LMAN2L GNRHR TARDBP ATXN8OS TK2 HMBS XK CHMP2B PPT1 COL7A1 CACNA1G ST3GAL3 PLA2G6 KCNJ2 MAN2B1 TMEM106B RSRC1 GLI2 RUNX1 ERBB4 GALT FGF14 ELN MMP1 MT-TW COQ2 TECR ANOS1 HNRNPA1 PRKN MT-ND4 ATP1A3 ATP7B SNCAIP AMACR PDE11A BMPR1A PIGC TCF4 TET3 SMPD1 CPOX CTSF MBOAT7 NR1H4 DUSP6 UNC13A SOD1 CASR VPS35 CLIP1 DNAJC13 UFD1 CHCHD10 GLT8D1 GLUD2 CLRN1 GABRG2 NDST1 MECP2 NSMF MED23 FAN1 GTF2IRD1 EPHA4 CRBN PDGFB PROKR2 RREB1 DRD2 SRSF2 RFC2 TET2 SNCA GRIN2A AFG3L2 PRSS12 HIRA PTS HARS1 MT-TS2 PFN1 PDCD1 SYNJ1 CDH23 PRKCG C19orf12 BCR FMN2 CDKN1B JRK ASXL1 SRPX2 GPR101 USH1C GCH1 NEK1 STAG2 PON3 IDUA KCNT1 METTL23 EIF4G1 NEFH CHD7 PSAP GDAP2 MT-TH TAF15 DAO KDM5B CBL JMJD1C MSH2 FOXH1 COASY MST1 USH1G VAPB ARSA CC2D1A PODXL TGFBR2 HLA-DRB1 STX16 CDKN2C HNMT GRN CACNA1H B3GALNT2 PRPH CEP78 ATRX NHLRC1 TUSC3 HTRA2 MT-TQ TNIK EZR MEN1 XPR1 TTC19 SPAST GLE1 CBS MATR3 LINS1 MLH1 ANXA11 GPR35 SLC2A1 PSEN1 AARS2 DMPK AIMP1 PIK3CA HS6ST1 TBP MT-TN ARVCF PMS1 PRKAR1A TSC1 TRAPPC9 LMNB1 FLT4 CFAP410 RPS6KA3 BAZ1B ATP8B1 GIGYF2 RPS20 PON1 GNRH1 JPH3 SEMA4A SLC18A2 AP2S1 PARK7 ARSG MT-CO2 KISS1 ANG SLC25A4 HP_AUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISM GRIA3 CLIP2 ARV1 GJA5 TRAK1 NTRK2 TBX1 GABRG2 REV3L SHANK3 NHS SH2B1 SLC1A2 UFD1 MED13L PIGL FMR1 SEC23B GABRB2 PIK3CA MAGEL2 ANKRD11 NECAP1 GJA8 MAOA BCKDK HDAC8 SEC24C SNRPN ALG13 GTF2IRD1 SZT2 GTF2I DYM SCN8A DHCR7 USF3 NLGN3 RREB1 STXBP1 PDE4D NDN KLLN RFC2 TBCK HIRA SEMA3E AHDC1 WFS1 TSC1 TBL2 CLTC GABRA2 NRXN1 MAN1B1 NLGN4X LHX1 GP1BB SMAD4 SMC1A DEAF1 SETD5 HCN1 CDK19 SDHD HERC2 TMLHE SYNGAP1 ALDH5A1 AKT1 ATP6V1A SKI PWAR1 LIMK1 EHMT1 FTSJ1 CNTNAP2 MECP2 OTX2 STS SCN3A KCNA2 NFIB CACNA1A PTEN EXT2 KDM5C GAMT NPAP1 JMJD1C YY1 YWHAG SMC3 SNORD116-1 ADSL IQSEC2 DPYD HNF1B FGFR1 FGF12 SIN3A NDP PROKR2 COMT KCNB1 TSC2 ARNT2 CACNA1C MKRN3 SNORD115-1 AARS1 DALRD3 IFNG GRIN2D FLCN ATRX CHRNA7 PPP3CA GATM NIPBL RPL10 PAH AP3B2 KCNAB2 PRDM16 KMT2A OCA2 MED12 ZBTB20 SDHC TBR1 NONO IL1RAPL1 SYNJ1 PTCHD1 NUS1 SLC35C1 DMPK SLC13A5 CHD8 PLXND1 SOX3 DYRK1A EP300 CHD7 ARVCF TCF12 PWRN1 NAGA RAI1 SLC9A6 GABRA5 CYFIP2 AUTS2 WWOX CREBBP UBA5 HDAC4 CACNA1B UBE3A CNKSR2 PRKAR1A BAZ1B SDHB ELN GABRD EEF1A2 PARS2 SOX2 ACTL6B DNM1 HESX1 MEIS2 RAD21 RERE SATB2 DHDDS HP_AGGRESSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGGRESSIVE_BEHAVIOR JRK GRIA3 WDR62 SYN1 PAK3 TCF4 ATXN10 NDST1 ECM1 MGAT2 TMEM240 GCSH DGCR6 AP1S2 SHANK3 SLC6A17 KMT2A PAH SASS6 DPYD HDC HNRNPH2 ARID1B MAPK1 ATP13A2 AFF2 TREM2 MBD5 KDM3B EFHC1 MAOA MAN1B1 IQSEC1 GABRA1 FRMPD4 AMT CACNB4 POGZ DHCR7 TMEM106B ESS2 GABRD CILK1 WARS2 MECP2 SLC25A13 NAGS PCDH19 ANK3 PSEN1 TRIP12 VPS13A PRRT2 GABRB3 EP300 SPR CEP85L BPTF SCN1A NKAP CUX2 CLCN2 KDM5C EEF1A2 CHD2 FIG4 CHMP2B SQSTM1 DGCR8 NRXN1 SLC2A1 ZMIZ1 TIMM50 SOX5 KNL1 GRN DEAF1 BCAP31 INPP5E DYNC1I2 TCF20 RUSC2 SMARCC2 ENTPD1 MED12L PYCR2 CREBBP PRODH ALDH5A1 ABCA2 SLITRK1 PLA2G6 LINGO1 TTI2 TRIO ELP2 SATB2 SHMT2 EHMT1 KCNT1 CNTNAP2 SETD2 HERC2 VCP ADAT3 GRIN2A NAA10 UBE2A NFASC LINS1 NFIB HSD17B10 MAPT GAMT ODC1 CEP152 NAGLU GLDC NDP CAMTA1 UBTF MAB21L1 UQCC2 ADSL RBBP8 PHIP MANBA PACS1 USP7 EIF2S3 TYROBP SIN3A SLC2A3 KCNQ3 CUL4B SLC6A8 USP9X DNMT3A HDAC4 RLIM BCOR NSDHL TSC2 SH2B1 SETD1A MYT1L CLCN4 PUS7 MED25 SMARCA2 SLC6A1 APC2 PSMD12 WAC C9orf72 TTC19 SPAST MED12 PRNP ZBTB20 PIGH DGCR2 RORB NONO IMPA1 HTT UROC1 PTCHD1 FRRS1L SLC52A2 PPP2R5D DMPK MAPK10 TMEM231 PIGY MED13L FGF14 AP2M1 NSD1 LEPR TBP TSC1 TBX1 ADNP DDX3X PUS3 DYRK1A METTL5 C12orf4 SMC1A WDR45 ZMYND11 CTNNB1 OCRL KMT2E DNM1 EBP DPAGT1 FOXP1 ATP7B FBXW11 SARS1 KIF11 HP_INAPPROPRIATE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_BEHAVIOR CDKL5 CHMP2B SQSTM1 PSEN1 NOVA2 GLI3 PHGDH DCTN1 FOXG1 TYROBP ATRX DYRK1A GRN HSD17B10 SLC6A17 GABBR2 SLC9A6 PSAT1 MECP2 GM2A KIF15 PSAP KANSL1 TREM2 ATP10A NTNG1 SLC19A3 SLC18A2 GNAS C9orf72 VCP NTNG2 PRKAR1B TMEM106B UBE3A MAPT SNRPN IQSEC2 STXBP1 ATP7B VPS13A OCA2 GATAD2B GALC MBD5 ADSL HP_MOOD_SWINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOOD_SWINGS PSMD12 CUL4B ZFYVE26 DGCR8 DGCR6 ESS2 DGCR2 DEAF1 BPTF TBX1 HP_OBSESSIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_BEHAVIOR CLIP2 USP7 TKT NLGN1 SGCE SLC2A3 PAH HDC HNRNPH2 HCN1 ARID1B MLXIPL CLCN4 AFF2 TREM2 PANK2 NR2F1 GABRG2 MAGEL2 OCRL HDAC8 CRKL SNRPN SYNGAP1 GTF2IRD1 GTF2I POGZ CREBBP TMEM106B NIPBL DRD2 C9orf72 SIN3A MAPK1 NKX2-1 TRRAP NDN TTC19 RFC2 KMT2A SLC45A1 YWHAG SCN1A SETD5 PCDH19 PSEN1 OCA2 MED12 VPS13A EP300 SEMA3E SCN1B TOR1A FMR1 SCN9A TBX1 HTT BCR TBL2 CHMP2B SQSTM1 SLC35C1 DMPK XK AUTS2 STX1B GCH1 CHD7 HTR2A GRN SMC1A ADNP ADGRV1 TCF20 SLITRK1 HDAC4 ELN SLC6A4 CARS1 UBE3A TRIO PPM1D BAZ1B LIMK1 EHMT1 STXBP1 COASY VCP DPF2 KCTD17 GABRA1 UBE2A SCN2A FOXP1 GABRD MAPT GRIA2 RAD21 TLK2 GATAD2B MAP1B SMC3 HP_RESTRICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_BEHAVIOR C9orf72 STXBP1 GABBR2 MAPT CHMP2B SQSTM1 CDKL5 MECP2 PSEN1 VCP SNRPN NLGN4X NLGN3 TMEM106B TREM2 GRN NTNG1 HP_PSYCHOTIC_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_EPISODES SLC7A7 ATP13A2 HMBS MTHFR PARK7 NAGS HP_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMENTIA HTT DNM1L COL4A1 VPS13C VCP SQSTM1 WFS1 PPP2R2B MT-TS2 SNCB MAPT LRRK2 UCHL1 CTSF FTL MT-CO3 GBA ATP7B GCDH A2M SNCA VPS35 APP TUBB4A DNAJC13 MMACHC ALDH18A1 FUS CP EPM2A MT-ND1 ATP13A2 TOMM40 TREM2 GLUD2 DGUOK JPH3 NPC2 PINK1 MT-TF DLAT GRN ATXN2 GBA2 TRPM7 HTRA1 TMEM106B ATXN3 ADH1C GM2A DNMT1 UBQLN2 MT-CO1 CYP27A1 PSEN1 PRICKLE1 SYNJ1 PSEN2 TYMP C19orf12 IRF6 DCTN1 CHMP2B MT-ND5 ADA2 MT-TC TWNK MT-TL1 SPG21 TBK1 SCARB2 CHCHD10 CSF1R FBXO7 SDHAF1 MT-ND6 SDHA PRNP PLA2G6 TREX1 MT-TV CERS1 ERCC8 MBTPS2 EIF4G1 PSAP NOTCH2NLC MT-CO2 CLN6 MT-TH POLG DNAJC5 NOTCH3 MT-ATP6 NDP PDGFRB ATN1 PRDX1 KCTD7 PRDM8 TARDBP ABCA7 PLAU APOE ARSA CISD2 NHLRC1 MT-CYB TYROBP CST3 SDHD NR4A2 PODXL MECP2 PANK2 HFE ITM2B C9orf72 MT-TQ AUH HLA-DQB1 HTRA2 PRKAR1B DNAJC6 ABCD1 MT-TW RAB39B TTR XPR1 SPAST VPS13A MATR3 FMR1 MT-TK HNRNPA1 CLN3 PDGFB CUBN AARS2 LYST ATP6V1A CFAP43 RNF216 TBP ATXN10 ASAH1 ROGDI ERCC4 TUBA4A ATXN8OS PNPLA6 SLC13A5 SERPINI1 APTX HNRNPA2B1 RRM2B GBE1 ZFYVE26 OPA1 HEXA WDR45 GIGYF2 NOS3 TIMM8A MPO PRKN MT-ND4 SORL1 ATP6V1E1 ATP6V0A2 SNCAIP SDHB NPC1 CSTB PARK7 MT-TE HP_FRONTAL_LOBE_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_LOBE_DEMENTIA LRRK2 PRKN MAPT CSF1R TYROBP PINK1 VPS13C TBP CHCHD10 PSEN1 PARK7 UCHL1 HTRA2 FTL DNAJC6 TREM2 SYNJ1 SNCA PODXL HP_AUTISTIC_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISTIC_BEHAVIOR DCPS IQSEC1 GRIA3 CLIP2 NDUFS4 ARV1 PIGW VPS13C PUF60 GJA5 TRAK1 WFS1 POLA1 KMT2C NEXMIF UCHL1 TBX1 AP1S2 GABRG2 DMD SHANK3 NHS TMEM231 ZIC1 GDI1 ACOX1 SLC1A2 NDUFV1 C12orf4 SPATA5 MEIS2 KCNA1 DPYD GRIN1 HNRNPH2 MED13L NDUFA13 THOC2 CXorf56 SLC35C1 FMR1 TREM2 KANSL1 CREBBP PIGQ ZFPM2 ZMYND11 NTNG1 NECAP1 SIK1 GJA8 MAGEL2 FBXW11 PINK1 HDAC8 SEC24C FRMPD4 SNRPN ARHGEF6 TBC1D24 TAOK1 SLC12A2 GTF2I DYM SCN8A SLC35A3 DHCR7 USF3 MYT1L NDUFB10 FRRS1L ACTL6A NDN MT-ND2 TAF1 NUS1 ANK3 GNAQ ASH1L EP300 SEMA3E CHD1 PDE4D PIGP CRADD MSTO1 POU3F3 CEP85L RPS23 CUX2 TSC1 CHD2 TBL2 CHMP2B SQSTM1 DEAF1 OTUD6B TBR1 GABRA2 DOCK3 AUTS2 CC2D2A WASHC4 SNX14 PCDH19 TWNK MAN1B1 SLC45A1 GFM2 NLGN4X LHX1 GFM1 EGF GP1BB MBOAT7 UPF3B SLC25A22 SMC1A ADNP BRSK2 SETD5 NDUFAF2 TMEM237 HERC2 TMLHE IQSEC2 AKT1 NTRK2 NDUFA1 PWAR1 TRIO FBXO31 MT-ND3 LIMK1 SIM1 SPECC1L CNTNAP2 GRIK2 MECP2 SARS1 NDUFAF3 MICOS13 GRIN2A SCN1B STS TCF20 SCN3A FOXG1 ALG11 CDH15 KCNA2 NFIB CACNA1A ATP1A3 GABRD TANC2 EXT2 GAMT HIVEP2 NDUFA6 KIF1A NPAP1 DOCK8 CAMTA1 UBTF YY1 CDKL5 ZC3H14 YWHAG SMC3 SNORD116-1 RAB11A COX10 RAB11B MED12L STXBP1 NSUN2 STAG2 KDM5B NOVA2 SLC6A8 USP7 NDUFAF1 FGFR1 PGAP2 PROKR2 CLTC PAK3 FOXRED1 KMT2E ALDH18A1 COMT COG5 KCNB1 HCN1 TSC2 CDK8 MKRN3 SETD1A SNORD115-1 SMG9 CLCN4 EHMT1 JAM2 TMEM126B MED25 UBA5 AARS1 PPP3CA DYNC1H1 NAA10 IFNG TRPM3 GRIN2D SYNGAP1 FLCN TMEM216 RTL1 PGAP1 NTNG2 AGTR2 HECW2 DNAJC6 GATM UBE3A SCN2A RPL10 CTCF EDC3 CNKSR2 PSMD12 KCNAB2 DMXL2 MED12 ZBTB20 NUBPL DCX NAA15 LMAN2L SRY NONO IL1RAPL1 DEPDC5 SYNJ1 GNAO1 GRIN2B SETD2 KCNQ5 CAMK2A MAPK10 ZNF41 KCNT1 SOX3 KIRREL3 OCA2 DYRK1A SLC25A1 MEG3 ST3GAL3 TCF12 ADGRV1 NAGA GABBR2 SLC9A6 NSD1 SLC9A7 GABRA5 NDUFAF4 EEF1A2 WDR26 METTL5 TBC1D23 SET RSRC1 PRKAR1A GALT SDHB MTOR ELN CIC PIGG STAG1 BCORL1 CTNNB1 POMT1 IREB2 GABRA1 TECR WAC PRKN DDX3X ACTL6B KPTN UGP2 GNB5 FTSJ1 HCFC1 DNM1 HESX1 WDFY3 RAD21 PIGC PACS1 RERE RNF135 NDUFS2 SCN9A NDUFA11 TET3 TCF4 PGAP3 REV3L ALMS1 PHF21A TIMMDC1 SH2B1 EXTL3 AP2M1 CARS2 KMT5B NDUFS6 ASXL3 CLIP1 UFD1 PIGL ARID1B SBDS TRMT1 SLC25A12 SEC23B MAPK8IP3 MBD5 GABRB2 KAT8 PIK3CA NDST1 ANKRD11 POLR2A KDM3B MAOA BCKDK MED23 SETD1B ZNF462 ALG13 MED13 FOXP2 GTF2IRD1 RPS6KA3 SZT2 CRBN POGZ TMEM106B NLGN3 CSNK2B RREB1 TRRAP KLLN CACNG2 RFC2 TBCK PSEN1 PRSS12 HIRA GABRB3 AHDC1 AFF2 NALCN MT-ND1 DLG3 DLK1 SCN1A PNKP MEF2C CAMK2B FMN2 NRXN1 DDX6 RSPRY1 STX1B TMEM138 SMAD4 ZMIZ1 GRN PACS2 RIMS2 KDM6B CDK19 SDHD SON FOXP1 CNOT3 USP9X AGTPBP1 PRODH ALDH5A1 CDH2 ATP6V1A SKI MCTP2 PIGV SRP54 PPM1D NDUFAF5 OPHN1 OTX2 METTL23 VCP EPB41L1 NDUFS3 NEUROD2 TBX2 SNCA SYN1 NDUFB11 NDUFB3 ACSL4 PTEN SATB2 MAPT KDM5C VAMP2 JMJD1C GRIA2 TUBB3 TLK2 NDUFV2 MAP1B ADSL PPP2CA TM4SF20 INTS1 HNF1B NLGN1 LSS DOCK7 ZNF81 FGF12 CC2D1A PODXL SIN3A NDP LRRK2 GPHN BCOR ARNT2 CACNA1C HNMT SYP NF1 TRIM8 NR2F1 MID2 IARS1 DALRD3 NDUFS1 B3GALNT2 SVBP ATRX SLC6A1 NDUFS8 TUSC3 APC2 ZNF711 HTRA2 CHRNA7 NIPBL HERC1 TNIK DNAJC21 PAH EZR C9orf72 AP3B2 PRDM16 PIGY KMT2A LINS1 SDHC CNNM2 RARS1 MFF CLP1 PTCHD1 NDUFB9 PPP2R5D DMPK PCGF2 AIMP1 SLC13A5 CHD8 PLXND1 RLIM ZNF423 GALNT2 BPTF NDUFS7 EFL1 PLA2G6 CHD7 ARVCF TSPAN7 RAB39B PWRN1 MADD KAT6A RAI1 CYFIP2 WWOX HDAC4 TRAPPC9 CASK CACNA1B DLL1 USP27X ARX PIGO BAZ1B DLG4 SYT1 PARS2 NDUFAF8 CUX1 CHAMP1 SOX2 CACNA2D2 PARK7 ARFGEF2 CEP290 GATAD2B RORA TRAPPC4 DHDDS HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS NLGN4X NLGN3 MECP2 SNRPN FOXP1 HP_STEREOTYPY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPY DCPS IQSEC1 FOXG1 MGAT2 GUCY2D AP4M1 CHD3 NEXMIF MBOAT7 SHANK3 EXTL3 NAA10 C12orf4 SPATA5 KMT2A GRIN1 ASXL3 CLIP1 FLII THOC2 KIF15 MBD5 TREM2 ZMYND11 GABRG2 NDST1 NTNG1 RAI1 NPC2 CPLX1 OCRL MED23 RAC1 GRN TAOK1 CRBN NSD2 POGZ MYT1L TMEM106B NLGN3 CSNK2B AP4E1 FRRS1L CACNG2 PSEN1 PRSS12 ASH1L EP300 NACC1 AFF2 CHD1 CRADD TBX1 MEF2C GABRA1 DYRK1A CAMK2B NTRK2 CDKL5 CHMP2B SQSTM1 DEAF1 FMN2 JRK SNRPN NRXN1 AUTS2 CHAMP1 WASHC4 NARS1 SLC45A1 NLGN4X SOX5 ALKBH8 ADNP BRSK2 FOXP1 EXT2 NAGS CREBBP PRODH SKI TTI2 TRIO ELP2 FBXO31 SHMT2 GABRB3 EHMT1 RAB39B CNTNAP2 GRIK2 MECP2 SARS1 HERC2 METTL23 VCP RPE65 BRAF EPB41L1 CDK19 IQSEC2 CDH15 TANC2 MAPT VAMP2 KIF1A KDM5B CERT1 DOCK8 GRIA2 SYNGAP1 TUBB3 ZC3H14 RAB11A RAB11B MED12L STXBP1 NSUN2 LARP7 GRIN2A TARDBP NOVA2 TKT DOCK7 CC2D1A ATRX NDP CLTC SLC6A8 LETM1 SMC1A TSC2 KYNU HNMT KPTN NR2F1 HIVEP2 MED25 DDX6 CACNA1H PPP3CA DYNC1H1 ARID2 B3GALNT2 TRPM3 FLCN TUSC3 PGAP1 NTNG2 ZEB2 SLC1A4 HECW2 UBE3A MAN1B1 AP4S1 TNIK EZR C9orf72 EDC3 KCNAB2 PRDM16 SIK1 AP4B1 LINS1 TBR1 LMAN2L SLC2A1 GRIN2B KCNQ5 CAMK2A PPP2R5D AIMP1 TBCD KIRREL3 CTBP1 ST3GAL3 MADD KAT6A GABBR2 SLC9A6 FGFRL1 EEF1A2 TSC1 HDAC4 TRAPPC9 WDR26 DLL1 SYT1 TBC1D23 SET RSRC1 CIC DNAJC19 GABRD BCORL1 PUF60 TECR CUX1 RTTN NAT8L OCA2 PIGC FBXW11 EBF3 TCF4 TRAPPC6B RERE HP_DISINHIBITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISINHIBITION DCPS IQSEC1 ARV1 VPS13C TRAK1 WDR62 SQSTM1 NTRK2 TMEM240 DLL1 UCHL1 GCSH MBOAT7 GABRG2 SLC1A2 C12orf4 VPS35 PTCH1 CLIP1 DNAJC13 FUS VCP DISP1 AFF2 TOMM40 TREM2 GABRB2 NODAL NDST1 NECAP1 MAGEL2 MAOA PINK1 MED23 GRN AMT SZT2 CRBN SCN8A TMEM106B ABCA7 FRRS1L STXBP1 PCDH19 SIX3 PSEN1 PRSS12 EP300 CRADD SYNJ1 C19orf12 CHD2 CHMP2B CLTC FMN2 GABRA2 FGF8 WASHC4 SLC45A1 FOXH1 FTL TBK1 KNL1 CHCHD10 HCN1 CDK19 SYNGAP1 CREBBP CDH2 ATP6V1A PSEN2 FBXO31 GRIK2 SARS1 METTL23 EIF4G1 SCN3A KANSL1 SCN2A SNCA KCNA2 CACNA1A DNMT1 MAPT PANK2 HIVEP2 CEP152 NTRK1 KDM5B LRRK2 GLDC CNKSR2 UBTF ZC3H14 FUZ YWHAG GBA NSUN2 PHIP VANGL1 TARDBP USP7 TYROBP FGF12 CC2D1A PODXL SLC2A3 KCNB1 TSC2 HNMT MED25 AARS1 DALRD3 B3GALNT2 GRIN2D TGIF1 SLC6A1 TUSC3 PGAP1 HTRA2 PPP3CA DNAJC6 MAN1B1 TNIK EZR C9orf72 EDC3 AP3B2 SPAST SCN1A VPS13A TDGF1 LINS1 SCN1B GAS1 GLI2 LMAN2L ADAT3 IL1RAPL1 HTT PTCHD1 NUS1 AIMP1 SLC13A5 PLA2G6 ST3GAL3 AP2M1 CYFIP2 WWOX TSC1 UBA5 TRAPPC9 CACNA1B RSRC1 FMR1 APP CDON COQ5 GIGYF2 GABRA5 EEF1A2 GABRA1 TECR PARS2 PRKN SORL1 ACTL6B ZIC2 DNM1 SHH PARK7 PIGC FBXW11 DHDDS SCN9A HP_IMPAIRED_SOCIAL_INTERACTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SOCIAL_INTERACTIONS NDUFA11 TET3 NDUFS4 VPS13C PUF60 POLA1 NDUFAF1 FOXG1 NEXMIF UCHL1 NLGN3 NLGN1 DOCK7 SHANK3 PODXL TIMMDC1 ACOX1 LRRK2 EXTL3 SLC6A8 NDUFV1 FOXRED1 SPATA5 NDUFS6 MECP2 GPHN SMC1A NDUFA13 SH2B1 FMR1 NF1 SMG9 SLC25A12 NEUROD2 TMEM126B NTNG1 UBA5 PINK1 ALG13 NDUFS1 FRMPD4 SYNGAP1 FLCN NDUFS8 RTL1 HTRA2 CREBBP DNAJC6 HERC1 GRIN1 NDUFB10 MT-ND2 ST3GAL3 MED12 EP300 AP3B2 NUBPL NALCN PIGP MT-ND1 SYNJ1 DLK1 TBR1 RARS1 MFF CLP1 CDKL5 NDUFB9 SNRPN NRXN1 KCNT1 TWNK GALNT2 NDUFAF4 NLGN4X GFM2 SLC25A1 GFM1 NDUFS7 DEAF1 MEG3 MEF2C NDUFAF2 GABBR2 AGTPBP1 ADNP NTRK2 TBC1D23 NDUFAF3 NDUFA1 MT-ND3 NDUFAF5 CNTNAP2 OPHN1 GRIA3 MICOS13 IREB2 SYT1 NDUFS3 ALG11 CUX2 SNCA NDUFAF8 NDUFB11 NDUFB3 IQSEC2 PRKN STXBP1 GABRA2 CACNA2D2 NDUFA6 UGP2 GNB5 PARK7 ARFGEF2 TUBB3 NDUFV2 ADSL COX10 RAB11B NDUFS2 HP_SHORT_ATTENTION_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_ATTENTION_SPAN DCPS IQSEC1 CLIP2 ARV1 NODAL VPS13C TRAK1 PAK3 CDKN1A POLA1 MED12 DLL1 UCHL1 TBX1 GABRG2 DMD PMS2 GDI1 SLC1A2 KRAS C12orf4 KMT2A PAH DISP1 HDC MT-ND1 MLXIPL SIX3 KANSL1 MBD5 LIG4 NECAP1 FBXW11 PINK1 OCRL HDAC8 SEC24C ARHGEF6 FMR1 RIC1 GTF2I DYM SCN8A DNAJC12 CIC FRRS1L ACTL6A MT-CO1 MSH6 GRIN2A VPS13A GNAQ SEMA3E CC2D1A CRADD SMC1A EPCAM GABRA1 TSC1 SHH MLH3 TBL2 MT-ND5 GABRA2 DOCK3 AUTS2 IGF1 DEAF1 WASHC4 PCDH19 SLC45A1 GALC GP1BB UPF3B ALKBH8 DYNC1I2 ATP13A2 HERC2 MT-ND6 IQSEC2 CARS1 SLITRK1 NF1 SYNE1 CDON PWAR1 TRIO FBXO31 SHMT2 NBN LIMK1 GABRB3 PTCH1 GRIK2 SARS1 GAS1 MT-TL1 STS NTNG1 TCF20 SCN3A KCNA2 CACNA1A TANC2 ODC1 DHCR7 NPAP1 YY1 ZC3H14 PRNP YWHAG NOP56 SMC3 SNORD116-1 ZIC2 DPH1 NSUN2 TDGF1 USP7 TKT HSPG2 CRBN RSRC1 ARF1 TGIF1 SPRED1 KMT2E COMT KCNB1 LHCGR TSC2 CDK8 MKRN3 SETD1A GLUD1 SNORD115-1 MECP2 MT-TF MED25 AUH AARS1 CRKL IFNG GRIN2D CDKN2B MT-CO3 PGAP1 AGTR2 PRKAR1B DNAJC6 UBE3A MAN1B1 ABCD1 AHCY AASS MAPK1 EDC3 CNKSR2 FGF8 HOXA2 SCN1B LMAN2L SYNJ1 NUS1 PNKP ZNF41 PIGY FGD1 ST3GAL3 NSD1 TAF1 FGFR3 SLC9A7 FRMPD4 UBA5 PSMD12 METTL5 NDN GLI2 CXorf56 GALT ZDHHC9 ELN GLRX5 GATA4 COQ5 BCORL1 MT-TW GABRA5 FGFR1 TECR WAC PRKN MT-ND4 IGF2 NAT8L SH3KBP1 ACTL6B FTSJ1 MAP11 HCFC1 BMPR1A DNM1 WDFY3 RAD21 CLTC PIGC PPP1R12A KIF11 CSGALNACT1 GNE TMCO1 SNRPN SCN9A TET3 SMPD1 NTRK2 MBOAT7 PHF21A SH2B1 MYT1L CLIP1 UFD1 FLII SBDS SIM1 TRMT1 FBXO11 GABRB2 KAT8 DHTKD1 NDST1 RAI1 KDM3B SOBP MED23 FAN1 MED13 GTF2IRD1 RPS6KA3 SZT2 RREB1 IKBKG STXBP1 RFC2 SETD5 PRSS12 HIRA MT-TS2 DLG3 PRKCG NKAP DYRK1A MAN2B1 BCR THRB FMN2 CDKN1B JRK DDX6 SRPX2 FOXH1 ZMIZ1 SOX5 HCN1 CDK19 FOXP1 STAG2 USP9X MED12L SYNGAP1 CDH2 ATP6V1A DRD5 MCTP2 TUBB2B SRP54 PPM1D OPHN1 ANAPC1 SETD2 METTL23 PSAP SCN2A SNCA PURA MT-TH ACSL4 SATB2 GNB5 MAGEL2 NTRK1 KDM5B RERE JMJD1C TUBB3 MSH2 TLK2 MAP1B PHIP ARSA TBL1X NLGN1 ZNF81 FGF12 PODXL TGFBR2 SIN3A NDP LRRK2 SLC6A8 CDKN2C HNMT PCNT SYP NR2F1 ATP10A ASPM MID2 CACNA1H DALRD3 ARID2 B3GALNT2 SVBP TUSC3 APC2 ZNF711 HTRA2 CHRNA7 PPP3CA MT-TQ NIPBL PANK2 TNIK DNAJC21 EZR PIEZO2 MEN1 NKX2-1 AP3B2 GRIA4 SCN1A SETBP1 LINS1 MLH1 CLCN4 SLC2A1 ALG13 PTCHD1 DMPK PCGF2 HMGA2 AIMP1 PIK3CA SLC13A5 RLIM SPG7 EP300 BPTF EFL1 PLA2G6 CHD7 ARVCF TSPAN7 PMS1 RAB39B PWRN1 MADD FLI1 DRD4 CYFIP2 WWOX CREBBP HDAC4 TRAPPC9 ADNP CACNA1B USP27X ARX BAZ1B FANCD2 RPS20 EEF1A2 PLAG1 TIMM8A PARS2 KIF14 IL1RAPL1 CDKN1C OCA2 SEMA4A PARK7 IDS CSNK2A1 TRAPPC4 MT-CO2 DHDDS HP_IRRITABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRRITABILITY RNASEH2B CLN8 NODAL NFIX IFIH1 OTC FOXG1 SLC6A3 GCSH PMS2 ACOX1 KRAS SAMHD1 PAH DISP1 VPS53 CYP27B1 DDC HIBCH TGIF1 SIX3 TREM2 STAT4 SMARCB1 PRF1 FAN1 IL23R AMT IL10 FAS AIFM1 TMEM106B MECP2 SLC25A13 MSH6 SLC25A19 GNAS PSEN1 ST3GAL3 VPS13A PRRT2 NACC1 MAPT SLC1A2 PCBD1 SMC1A SEPSECS EPCAM SHH MLH3 ADAR ASS1 CHMP2B SQSTM1 FBP1 QDPR GLI2 SLC2A1 RNF13 ARG1 GALC GRN CLP1 STAG2 SDHAF1 TH UBAC2 PYCR2 SDHA CARS1 CDON AVPR2 TTI2 PTCH1 ASAH1 DLL1 ASL VCP CNP AVP NHLRC2 GAS1 CYP2R1 IL12A HLCS DNMT1 PANK2 RNASEH2C IL12A-AS1 GLDC C4A FGFR1 MSH2 PRNP FOXH1 MT-ATP6 CPS1 ZIC2 ALPL TDGF1 SLC46A1 ABCC8 PYGL HSPG2 SDHD TGFBR2 SLC2A3 NDP NAXD STX16 SLC25A20 NSDHL PSAP CCR1 EHMT1 FDFT1 EXOC8 ITPA UBA5 HBB TYROBP ENPP1 PTS SLC1A4 SLC39A4 HLA-DQB1 GCH1 TREX1 SUCLA2 C9orf72 AQP2 GRIA4 FGF8 SLC16A2 TCN2 MLH1 DCX NDUFS1 ATP5F1A YIF1B ST3GAL5 HTT ASPA PIK3CA ERAP1 TLR4 PHGDH TMEM237 PPT1 RNASEH2A GYS2 SLC25A1 ABCC6 PMS1 IBA57 NDUFAF4 COG4 SLC19A3 VDR MEFV GLRX5 HLA-B KLRC4 RPS20 CACNA1A SDHB JPH3 SEMA4A BMPR1A TK2 TP53 HP_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALLUCINATIONS PRDM8 FIG4 USH1G DNM1L VPS13C SQSTM1 ABCA7 CPOX HLA-DQB1 ARSA ECM1 CISD2 MED12 SNCB NHLRC1 UCHL1 COMT MOG NR4A2 PODXL TGFBR2 PMS2 SLC2A3 NDP SLC6A19 BCS1L GBA LRRK2 KRAS SNCA VPS35 DNAJC13 PDZD7 MMACHC FUS TNFSF4 EPM2A ATP13A2 MAPT VCP APOL2 PCDH15 C9orf72 TOMM40 GLUD2 CLRN1 MYO7A CACNA1A MT-TS2 PINK1 FAN1 SYN2 GRN CEP78 ATXN2 PSMD12 SPART ZNF365 HCRT HTRA2 DNAJC6 CHI3L1 ADH1C DAOA BCKDHA SLC25A13 TTC19 MSH6 WHRN CYP27A1 DCAF17 USH2A HARS1 MLH1 SYNJ1 DRD3 CDH23 ESPN CEP85L PSAP BPTF EPCAM WFS1 HTT TARDBP MAN2B1 MLH3 APOL4 PIK3CA RTN4R PPT1 TBP USH1C TBK1 PMS1 BCKDHB ADGRV1 PRNP CHCHD10 HLA-DRB1 ATXN8OS SON FBXO7 PSEN1 ALDH5A1 UPF3B PUS3 CDH2 TREM2 OPA1 PSEN2 APP ZDHHC9 P2RY11 HTR2A GIGYF2 HMBS EIF4G1 RPS20 DBT CTSH CLN6 CIB2 DNAJC5 PRKN SORL1 SNCAIP JPH3 SEMA4A BMPR1A PARK7 MSH2 MTHFR ARSG PPOX HP_SELF_MUTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_MUTILATION AUH LARP7 SATB2 NDE1 SLC6A8 HERC2 TMEM231 GRIA3 MGAT2 GRM7 SYT1 DHCR7 EP300 NAA10 NTRK1 MADD SLC6A17 INPP5E NAT8L PAH VPS13A DPYD HDC BCOR CREBBP THOC2 RAI1 SLITRK1 CLTCL1 GATAD2B TMCO1 TRIO ADSL HP_LOW_FRUSTRATION_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_FRUSTRATION_TOLERANCE KDM5C MAOA SMC1A KMT2A PPP2R5D PUF60 VPS35 GIGYF2 DNAJC13 SNCA MED12 LRRK2 EIF4G1 GATAD2B GBA HP_DIMINISHED_MOTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOTIVATION ACAT1 TMEM106B HMGCL TDGF1 NODAL PSEN1 VPS13C TARDBP SQSTM1 CDON ATXN10 TMEM240 UCHL1 DLL1 PODXL DISP1 TGIF1 SLC2A3 FOXH1 LRRK2 PTCH1 SIX3 VPS35 DNAJC13 FUS GAS1 VCP EHMT1 C9orf72 TREM2 SHH SMARCB1 PINK1 GRN HLA-DQB1 HTRA2 PRKAR1B TREX1 DNAJC6 HFE MAPT GM2A SPAST FGF8 SNCA VPS13A GBA FMR1 SYNJ1 DCX SMC1A PDGFB ZIC2 HTT DCTN1 CHMP2B GLI2 STAG2 SPG21 TBK1 PRNP CHCHD10 ATP13A2 HEXA ATXN1 GIGYF2 COQ2 EIF4G1 FGFR1 CACNA1A DNMT1 PRKN NOTCH3 PANK2 JPH3 PARK7 CP HP_DELUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELUSIONS HTT PRDM8 MAN2B1 APOL4 DGCR8 DMPK CPOX RTN4R ARSA PPP2R2B EIF2B1 ECM1 SNCB DGCR6 COMT SLC2A3 PLA2G6 PRNP SNCA EIF2B2 TBP EIF2B4 PSAP TBX1 APOL2 C9orf72 EIF2B3 HTR2A SYN2 HMBS HLA-DQB1 TIMM8A ESS2 EIF2B5 CHI3L1 DAOA SLC25A13 CYP27A1 JPH3 VPS13A GBA MTHFR DRD3 DGCR2 IMPA1 PPOX HP_INAPPROPRIATE_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_LAUGHTER CDKL5 PSEN1 NOVA2 GLI3 NTNG2 FOXG1 ATRX DYRK1A UBE3A MAPT HSD17B10 SLC6A17 SNRPN STXBP1 GABBR2 SLC9A6 MECP2 OCA2 GATAD2B KANSL1 MBD5 ATP10A ADSL NTNG1 HP_PAROXYSMAL_BURSTS_OF_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER NTNG2 FOXG1 ATRX MBD5 GLI3 UBE3A HSD17B10 HP_DELAYED_SPEECH_AND_LANGUAGE_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_SPEECH_AND_LANGUAGE_DEVELOPMENT DCPS KDM1A LRP5 CCDC174 NODAL NFIX UNC80 PUF60 TRAK1 WDR62 PAK3 MCOLN1 MYRF GNB1 YY1 KMT2C XYLT1 FDXR CHD3 AGA DLL1 SF3B4 QRICH1 DMD SHANK3 SLC9A6 FLNA GDI1 SLC1A2 C12orf4 SPATA5 DISP1 DPYD TUBB THOC2 CYFIP2 CCDC114 KCNQ5 KANSL1 NEDD4L PAK1 MAGEL2 IQSEC1 FKTN BMP4 FRMPD4 RAC1 ARHGEF6 TINF2 CCDC103 SLC12A2 SPART ARID1A PMPCB PIK3R1 DNAJC12 SIX3 THOC6 NSUN2 ACTL6A ERMARD KIAA0586 WDR37 LRRC6 ANK3 C8orf37 FIBP EP300 TANGO2 SPEG PIGP PHKA2 RUBCN MSTO1 POU3F3 BPTF MSX1 KCNH1 SFXN4 PCYT2 CNNM2 GABRA2 GAS8 CHAMP1 DEAF1 WASHC4 SLC45A1 GFM2 UPF3B TBC1D24 TIMM50 LMX1B SETD5 UBB KCNA4 RUSC2 TCF4 DNAH9 GNB5 HERC2 TMLHE CPLX1 PMPCA IQSEC2 PYCR2 COG4 SDHA CARS1 LAMA1 GOT2 NUP62 TTI2 FBXO31 SATB2 TRAF7 SIM1 ASPA PTCH1 SARS1 GRHL3 DNAAF1 GPAA1 GRIA3 MSL3 GAS1 FOXG1 CACNA1A TANC2 EXT2 SLC44A1 FGF12 DALRD3 GMNN SMS HUWE1 LAGE3 ODC1 NPAP1 SPTBN2 ZC3H14 YWHAG SNORD116-1 IFT172 PYCR1 PIGG GRIN1 NOVA2 TRPV6 IGF1R MN1 RSRC1 ADSL GNAO1 NCAPG2 TTN PIGA CHMP1A KMT2E UFM1 KCNB1 RLIM RHOBTB2 HMGA2 MKRN3 SNORD115-1 RFC1 MADD TBC1D7 MECP2 CLCN4 ACADS RTL1 SOD1 DLG1 MED25 GPT2 AUH MCM3AP AARS1 FBXL3 SHROOM4 SERAC1 GRIN2D SYNGAP1 FLCN TDGF1 BSCL2 NTNG2 WIPI2 NCAPD2 TUBA8 UBE3A MAN1B1 RPL10 TNIK TWIST2 SPEF2 EXOSC3 EDC3 CNKSR2 HOXA2 L1CAM ACBD5 EHMT1 LTBP4 RORB NONO DNAAF2 DNM1L NUS1 AMMECR1 TPP1 PGAP2 TTC25 HACE1 FGF8 PHF8 ST3GAL3 ATXN3 ACADM TAF1 CLIC2 SMAD6 SCN3A PSMD12 METTL5 NDN COG5 WDR81 ARX GLI2 OPHN1 DLK1 GEMIN4 PPP2R1A PRKAR1A TENM3 ZEB2 CDON PRKRA SPOP GABRA5 FGFR1 PRMT7 SRPX2 POMT1 IREB2 MRPL12 ACTL6B ZIC2 NRAS TSHR WAC TBCK LRRC32 IGF2 ATP6V0A2 INTS8 CWC27 TBL1XR1 KIDINS220 FTSJ1 MAP11 HCFC1 CCDC39 SHH WDFY3 MEIS2 ASXL2 FBXW11 SMARCD1 COA8 SELENOI RERE NFE2L2 TMCO1 NDUFA4 SNRPN MRE11 NME8 KCNMA1 TET3 BMPR1B ATP6AP2 VPS37A NTRK2 MBOAT7 CCDC151 PIGV MKS1 KMT5B MYT1L CLIP1 MAPK1 AMER1 MT-ATP6 TRMT1 FBXO11 SLC25A12 GABRB2 KAT8 NUP107 RAI1 NDST1 SRCAP CACNA1B LEMD3 ANKRD11 KDM3B MED23 PLP1 ADK SLC33A1 SETD1B ZNF462 ASH1L ALG13 MED13 FOXP2 INTU ZMYND10 SZT2 CRBN AIFM1 POGZ DNAAF6 STXBP1 PDE4D TRRAP ACAD8 ALDH18A1 DARS2 PRPS1 WDR45B TRIP12 DPYS PTS AHDC1 ZBTB18 AFF2 SLC2A1 GRIN2B TECR DNAAF4 EZH2 INPP5E HNRNPU DNM1 DYRK1A PPP3CA C19orf12 THRB ORC6 PGAP1 DDX6 DENND5A LIPT2 ZMIZ1 KNL1 TCTN2 ERLIN2 DNAH11 APC2 HCN1 CDK19 STAG1 FOXP1 SMARCC2 DLX4 USP9X ITPR1 PRODH PEX1 TP63 MCTP2 LINGO1 KCNA1 CAMK2A KCNJ10 SLC25A42 STRADA IRF6 CDK13 METTL23 EEF1A2 UGT1A1 TRIO DHX30 DYNC2I2 GLS KDM5C BRCA1 PGK1 KDM5B STAG2 FOXH1 TLK2 VAC14 SPAG1 PPP2CA EIF2AK2 INTS1 CNOT2 GMPPB RSPRY1 EARS2 LSS ZNF81 SDHD CC2D1A HSD17B10 SIN3A ATRX CUL4B CHKB HYDIN TBCD NSDHL SH2B1 CASK ERCC2 NR2F1 ATP10A NECTIN1 ASPM DAG1 ACOX1 ARID2 CAMK2B SVBP TMTC3 CCDC28B CDK10 ZC4H2 PNPT1 HERC1 SLC17A5 PRDM16 SOX5 SIK1 GRIA4 DRC1 DNMT3A TBR1 ADAT3 PPP2R5D AIMP1 SLC13A5 MED13L KIF1A NF1 MFSD2A NLGN4X TRAPPC2L PTCHD1 ACOX2 MESD PLA2G6 TRAPPC9 TOR1A SLC16A2 NALCN TOE1 CSPP1 SMC1A TPRN WARS2 PRKD1 HS6ST2 TH TRIT1 DNAJB13 TGIF1 RMND1 FRMD4A CDKN1C OCA2 RSPH3 CSNK2A1 TRAPPC4 FARS2 KLHL15 BIN1 LNPK DHDDS CWF19L1 ARV1 IFIH1 HTT ALDH7A1 FBLN1 ARL13B NEXMIF RSPH4A KIAA1109 TP53RK GABRG2 TENT5A KMT2A HNRNPH2 TELO2 NECAP1 B3GALT6 ZNF711 GALE NSD1 ISCA2 DLG3 ATP6V1A SPARC SCN8A MPDU1 CCNO FRRS1L GRIN2A SLC6A17 TBCE CRADD KYNU NEK10 CCDC65 OTUD6B RSPH1 GAS2L2 DOCK3 AUTS2 SNX14 CTNNA2 SETBP1 NGLY1 NXN DNAL1 DYNC1I2 TBX1 SDHAF1 PIGW UFC1 CREBBP PHKG2 WDR26 HIKESHI PLAA PWAR1 DNAI2 SHMT2 CNTNAP2 GRIK2 NTNG1 TCF20 DNAH1 CCDC47 CLN8 SPR KCNA2 CBL PURA ACSF3 NARS1 KIF5C EFTUD2 ARL6 TRAPPC11 YME1L1 HIVEP2 OFD1 CAMTA1 UBTF NEMF ARHGAP29 MBD5 NACC1 MTFMT RAB11B DNAAF3 SLC6A8 USP7 FMN2 EIF2S3 DNAAF5 ARF1 PMM2 MRPS14 TMEM94 ASXL3 CACNA1E COG8 SETD1A MEG3 WDR73 COL3A1 UBA5 SLC1A4 AGTR2 HOXB1 GATM CTCF AASS KCNAB2 ERF REPS1 RSPH9 NAA15 LMAN2L GNPTAB COX20 SYNJ1 YIF1B ST3GAL5 SETD2 TMEM231 EXOSC2 ZNF41 PIGY CDC42 CCND2 OSGEP ARMC4 MACF1 SLC9A7 BRWD3 MAN2B1 ADGRG1 SMARCE1 PUS3 DPM2 RALGAPA1 RAB3GAP2 TBC1D23 CXorf56 RNASET2 GALT GABRD BCORL1 PBX1 ZMYND11 COG1 ADARB1 CEP63 ATP6V1E1 PARS2 SDHB MID2 KPTN UGP2 LRPPRC SEMA6B DNAI1 PIGC KAT6B GNE PACS1 RPGR MFSD8 GORAB C2CD3 GAMT SLC6A3 ALG11 ALMS1 PHF21A EXTL3 CTBP1 CARS2 FLII ARID1B MAPRE2 KIF15 VPS33A TKFC DHTKD1 SOBP MRPS34 RPS6KA3 ZSWIM6 ARMC9 USP27X CNOT1 AP4B1 SEC23A CFAP298 PCDH19 PRSS12 STK36 COG6 MEF2C LIG4 BCL11B SPTBN4 FIG4 CLTC PIGN ADAR NRXN1 TRIP4 PUM1 GABBR2 PACS2 BTK RIMS2 CLP1 MED12L ALDH5A1 PRNP CRAT SKI BRAT1 ELP2 TUBB4A RYR1 PPM1D CDH1 SET POMGNT2 UQCRQ MED12 VPS11 ACSL4 AIMP2 RTTN FOXJ1 GRIA2 TUBB3 MAP1B VLDLR BBS9 CFAP300 DNAH5 NIPBL NLGN3 GRM1 ZNF142 EMC1 CCDC40 HNMT SYP RNF125 BBS1 TAF2 EED SMARCA2 IARS1 MDH2 LRRC56 TKT B3GALNT2 LAS1L PIGO BRPF1 ATP5F1D MFF TUSC3 CFAP221 EZR AP3B2 TMEM106B MYO9A DEGS1 CCDC88A LINS1 PPP1CB WDR4 WASF1 GSX2 GNS TTC12 GALNT2 XRCC4 NEK1 TSPAN7 RAB39B PWRN1 KAT6A SGCB RARS2 WWOX ADNP MTPAP TBX4 DPF2 PLAG1 SYT1 HK1 WDR45 MCIDAS PI4KA IL1RAPL1 EBF3 RORA ATAD3A UBE3B HP_PERSONALITY_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_CHANGES HTT DCTN1 PSEN1 MAPT CHMP2B SQSTM1 MT-ND5 EIF2B1 RNF216 TYROBP TBP GRN NR4A2 TREM2 C9orf72 PLA2G6 PRNP GBA VCP ATP7B EIF2B2 ATXN8OS EIF2B4 PNPLA6 MMACHC MT-ND6 LMNB1 MT-ND1 TMEM106B MT-TF GLUD2 EIF2B3 JPH3 MT-TW TBK1 ATXN2 MT-CO3 HLA-DQB1 MT-TL1 TIMM8A MT-TQ EIF2B5 MT-TH ADH1C MT-ND4 MT-CO1 SNCAIP VPS13A MT-TS2 MT-CO2 HP_HYPERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVITY APC2 DCPS IQSEC1 CLIP2 ARV1 NODAL NFIX PUF60 TRAK1 WDR62 PAK3 POLA1 MED12 NEXMIF GCSH TBX1 ATRX GABRG2 DMD PMS2 GDI1 SLC1A2 KRAS C12orf4 KMT2A HAL PAH DISP1 KCNA1 HDC CXorf56 MLXIPL FMR1 SIX3 AFF2 KANSL1 PIGQ LIG4 NECAP1 SIK1 FBXW11 OCRL HDAC8 SEC24C FRMPD4 ARHGEF6 RIC1 GTF2I DYM SCN8A DHCR7 DNAJC12 CIC FRRS1L ACTL6A MECP2 SLC25A13 MSH6 GRIN2A ANK3 VPS13A GNAQ EP300 SEMA3E SPR PDE4D CC2D1A CRADD SMC1A EPCAM CUX2 GABRA1 TSC1 SHH MLH3 TBL2 GABRA2 DOCK3 AUTS2 IGF1 DEAF1 WASHC4 SLC45A1 SETBP1 GALC GP1BB UPF3B SLC25A22 ALKBH8 ADNP INPP5E DYNC1I2 RUSC2 HERC2 IQSEC2 CREBBP CARS1 SLITRK1 NF1 CDON PWAR1 TTI2 TRIO SGSH FBXO31 SATB2 SHMT2 NBN LIMK1 GABRB3 PTCH1 CNTNAP2 GRIK2 DLL1 SARS1 GAS1 SCN1B STS NTNG1 TCF20 SCN3A KCNA2 CACNA1A TANC2 GAMT YME1L1 ODC1 HIVEP2 NPAP1 EBP UBTF YY1 CDKL5 ZC3H14 PRNP YWHAG NOP56 MBD5 SMC3 SNORD116-1 ZIC2 DPH1 NSUN2 STAG2 TDGF1 DPYD SLC6A8 USP7 TKT HSPG2 CRBN RSRC1 ARF1 TGIF1 SPRED1 KMT2E COMT KCNB1 LHCGR TSC2 CDK8 MKRN3 GLUD1 SNORD115-1 MED25 AARS1 SHANK3 CRKL SHROOM4 IFNG GRIN2D FLCN BSCL2 SLC1A4 PGAP1 NTNG2 AGTR2 UBE3A MAN1B1 ABCD1 SCN2A TNIK AASS MAPK1 EDC3 CNKSR2 PSMD12 FGF8 HOXA2 DMXL2 LMAN2L IL1RAPL1 SYNJ1 GNAO1 NUS1 MAPK10 TRAPPC9 ZNF41 PIGY FGD1 DYRK1A ST3GAL3 NSD1 TAF1 FGFR3 SLC9A7 UBA5 DDX3X METTL5 NDN GLI2 OPHN1 PPP2R1A PRKAR1A GALT ZDHHC9 MTOR ELN GATA4 BCORL1 CAMTA1 GABRA5 FGFR1 TECR STXBP1 TSHR NTRK1 WAC IGF2 SH3KBP1 ACTL6B MID2 FTSJ1 MAP11 HCFC1 BMPR1A DNM1 WDFY3 RAD21 CLTC PIGC PPP1R12A KIF11 CSGALNACT1 GNE TMCO1 SNRPN TET3 SMPD1 NTRK2 MBOAT7 PHF21A SH2B1 MYT1L CLIP1 UFD1 FLII SIM1 KIF15 TRMT1 FBXO11 GABRB2 KAT8 DHTKD1 NDST1 RAI1 KDM3B MED23 FAN1 ASH1L MED13 AMT GTF2IRD1 RPS6KA3 SZT2 DNAJC21 ACY1 POGZ ZSWIM6 RREB1 IKBKG RFC2 SETD5 PCDH19 PRSS12 TRIP12 HIRA GATAD2B DLG3 PRKCG SCN1A PNKP NKAP BCR THRB ATR FMN2 JRK NRXN1 DDX6 SRPX2 ARG1 ZMIZ1 SOX5 BCAP31 CORO1A KDM6B HCN1 CDK19 FOXP1 SMARCC2 USP9X MED12L SYNGAP1 PRODH ALDH5A1 CDH2 ATP6V1A DRD5 MCTP2 TUBB2B PPM1D RAB39B SHOC2 ANAPC1 SETD2 METTL23 CHD2 ADAT3 NEUROD2 ACSL4 GNB5 MAGEL2 KCNK9 NAGLU KDM5B RERE GLDC JMJD1C MSH2 FOXH1 TLK2 MAP1B ATP1A1 UQCC2 ADSL PHIP MANBA TBL1X NLGN1 ZNF81 FGF12 TGFBR2 SIN3A NDP CUL4B HDAC4 NSDHL PIGP HNMT PCNT SYP TRIM8 PUS7 PANK2 NR2F1 ATP10A ASPM CACNA1H DALRD3 ARID2 B3GALNT2 SVBP TUSC3 ZNF711 CHRNA7 PNP PPP3CA NIPBL CCBE1 EZR PIEZO2 NKX2-1 AP3B2 GRIA4 CLCN4 LINS1 MLH1 SLC2A1 ALG13 PTCHD1 GNS PCGF2 HMGA2 AIMP1 PIK3CA SLC13A5 TAF6 MED13L RLIM SPG7 HUWE1 BPTF PLA2G6 CHD7 ARVCF TSPAN7 PMS1 PWRN1 MADD FLI1 DRD4 CYFIP2 WWOX CASK CACNA1B USP27X ARX HTT BAZ1B DPF2 FANCD2 RPS20 EEF1A2 PLAG1 HGSNAT DPP6 TIMM8A PARS2 KIF14 CDKN1C OCA2 SEMA4A CSNK2A1 TRAPPC4 LNPK DHDDS HP_LACK_OF_INSIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_INSIGHT C9orf72 MAPT TYROBP CHMP2B SQSTM1 TBP TMEM106B TREM2 PSEN1 VCP GRN HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS NLGN4X NLGN3 MECP2 MFF SNRPN HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY LYST NOD2 AP1B1 JAK2 EXT2 NDUFA4 VCP NDUFA13 CDKN1A WFS1 SCN9A ACER3 SYNE1 ERCC3 C11orf95 CHRND COL6A1 AIFM1 SETX COCH MAG DMD SHANK3 KIF5A PMS2 GDI1 ATXN7 KRAS ATP7B GNAQ PMP22 BTNL2 XPC DDB2 MMACHC RTN2 GPI ATP13A2 SOX10 STAT4 DNMT1 PRKAR1A MAGEL2 TOP3A HDAC8 ARSA SNRPN IL23R ARHGEF6 SPG7 SBF1 GBA2 XRCC1 SPART NEB ASXL1 GSN POMT1 CTSD PEX10 MYF6 NDN MSH6 NDUFA12 HPDL NEFL NEFH VPS13A FUCA1 SYT2 MT-TV RPIA SPEG SURF1 MSTO1 PDHA1 EPCAM FDX2 MLH3 PDE4D MT-ND5 POLG2 FXN CHAMP1 DEAF1 PRX TWNK DNAJB2 DNM2 SLC2A1 MYD88 ADPRS GFM2 GALC UPF3B GNE ABCC8 REEP1 TXN2 SDHD MEN1 CTLA4 DYNC1H1 COL6A3 PEX6 PDK3 HERC2 MT-ND6 SALL4 PMPCA UBAC2 IQSEC2 CYP2U1 ERCC5 EGR2 YARS1 EYA1 NF1 KIF1B HINT1 DOK7 ERCC8 RAB3GAP2 ATL1 HARS1 MT-ND4 PNKP AKT1 ANO5 DNASE1L3 GRIA3 SLC25A11 DLST HLA-DRB1 CLCN7 MT-TL1 CHAT NFASC NDUFS2 CHRNE POLG C12orf65 NARS2 NOTCH3 ATAD3A GBE1 NPAP1 SNX10 C4A NDUFA9 ACTA1 RET CEP126 MT-ATP6 DMPK GFPT1 SMC3 SNORD116-1 TNFSF11 SLC18A3 PDYN MUSK TBC1D20 VAMP1 PEX12 KIF1C PIEZO2 SLC46A1 CISD2 AIP ARL6IP1 SELENON GDAP1 GMPPA TYROBP MOCS1 MEOX1 CBLIF TRAPPC11 TTN WIPF1 MPZ LRP5 COL4A1 PMP2 TUBB3 DCTN1 TSC2 FA2H MTHFR MKRN3 HADH SNORD115-1 RFC1 MADD CCR1 MECP2 ACADS SLC30A10 MT-TF C9orf72 PEX7 ERCC2 GNA11 MCM3AP CTDP1 PEX11B SYNGAP1 DHH NDUFAF6 MT-ND2 HK1 COL13A1 ABCD1 COA3 COL1A1 TNFRSF11A LARGE1 TACO1 CYP7B1 PRTN3 CNKSR2 IGHMBP2 PPP2R2B MPC1 FLVCR1 OPA1 BIN1 BEAN1 CHRNA1 ALDH18A1 MPV17 TARDBP ATXN8OS GTF2H5 NDUFV2 HMBS KLC2 XK ERAP1 RAB3GAP1 LRP12 RNF43 SIX1 TCIRG1 NF2 KCNQ1OT1 HACE1 OCA2 AEBP1 H19 SERPING1 ATXN3 SLC19A3 HLA-DPA1 DNA2 NDUFB8 LRP4 MME SERPINI1 NDUFAF4 LAMB2 FRMPD4 CHN1 APP TNFRSF1A DES FIG4 SDHC HSD17B4 THSD1 ZFR ZEB2 MEFV FGF14 HLA-B LIFR MT-TW NTRK1 MYPN SRPX2 AMACR HNRNPK LZTR1 TPM2 PRPS1 STXBP1 ERCC4 SLC29A3 COG8 ANKH TBL1XR1 FTSJ1 KNSTRN HCFC1 NAGA BMPR1A DLL4 PHYH TMPRSS6 MICU1 TPI1 COA8 MORC2 SLC12A3 MFN2 MRE11 HLA-DQB1 MAPT SMPD1 DNM1L HPGD CPOX MAT1A PEX5 VPS37A TMEM127 RNF113A ERCC6 PTDSS1 ACO2 SLC25A15 TTR LTBP3 SUMF1 GARS1 DNAJC3 CDKN1B MTMR14 GCDH CASR EPAS1 TTBK2 KIF1A PHOX2B CDH23 GDNF AMER1 POLR3A TPM3 TK2 TUBB6 RAI1 AR PGM3 GNAS TBC1D24 FAN1 KCND3 LAMA2 SLC5A7 SDHAF2 FAS SORD SCN10A LDB3 PNPLA6 DARS2 TGFB1 JPH1 SLC25A46 MT-TS2 NALCN SEMA3E PEX14 TGFBR3 SIGMAR1 DST PDCD1 PRKCG FBXO38 APC TYMP C19orf12 ADAR PMM2 PLEC PIK3CD ERLIN2 HADHB LMNA MYOT TFG COL6A2 PRPH UNC80 GCH1 SPG21 CACNA1A ADA2 FLI1 PDGFB FAM126A USP9X MT-ND4L INSR NAGS AP5Z1 PTRH2 SMN1 SCN4A IDUA ATP1A2 KCNJ10 SCN11A SNAP29 TNXB HSPB1 HSPB3 SDHA COASY POLR3B VHL UGT1A1 RNF170 FGF3 NOTCH2NLC CFL2 KLHL9 CD59 LIPT1 IL12A-AS1 KCNK9 MAX INPP5K RYR1 PLA2G6 ATP1A1 ATN1 ATL3 HSPB8 HSD3B7 SMO COL12A1 MT-ND1 SLC25A1 ASCL1 CRLF1 BAG3 MT-CO3 ZNF81 GCGR CHKB STX16 IARS2 CDKN2C WAS MPL SLC25A4 PIK3R5 PLEKHG5 ALS2 HADHA DSTYK GRN COX6A1 COLQ PLEKHM1 STUB1 MYH7 SPG11 SDHB ACOX1 MYMK PLP1 ADSS1 MTFMT TREX1 GAN BSCL2 SOST MT-TQ ZC4H2 PNPT1 NIPBL CACNA1G PRICKLE1 KBTBD13 GJC2 SPAST RAPSN NEU1 TFAP2A MATR3 MLH1 TARS1 SLC52A3 CLCN4 ADAT3 COX15 ALG13 MARS1 AP1S1 PSEN1 PIK3CA TBCD PLXND1 CCT5 GABRG2 MDH2 RNASEH2A ATXN10 PTCHD1 CHD7 IGF2 PRNP SLC39A14 MT-CYB PSAP TSC1 HSPD1 APTX LMNB1 KLHL40 RRM2B NLRP3 PDSS1 ZFYVE26 CALR PABPN1 MTMR2 MYO9A GJB1 KLRC4 PUF60 TBK1 PHF6 EDN3 CAPN1 SGCD NGLY1 TIMM8A KLHL41 GJA1 COA7 OTX2 RMND1 PRRT2 CA2 FKRP NDUFS4 FBN1 SEMA4A MYH14 MT-TE IDS PEX2 ADCY6 AARS1 PLOD1 RNASEH2B GCLC CD28 ATP5F1E SQSTM1 WDR48 ABHD12 TRIP4 SUCLA2 PEX19 SMARCE1 SEPTIN9 STAT3 KCNJ1 TTPA SAMHD1 CHST14 GDF6 FUS HFE GMPPB SLC19A2 DMXL2 NDRG1 LITAF SLC33A1 SELENOI NTNG1 PDCD10 DGUOK PDX1 TP53 PTPN22 PEX1 BDNF PET100 TRPM7 CLCF1 IFRD1 AFG3L2 TDP1 RETREG1 UBQLN2 MT-CO1 AGRN DCAF8 CLTCL1 SACS TBCE SCP2 SMARCB1 CRPPA ALAD OSMR TRPV4 RELA SMC1A SNAP25 MT-TK DAXX CHRNB1 PEX13 COL3A1 COMP PLD3 PWAR1 AGXT KIT HRAS SHMT2 RAB18 FAH CYP27A1 MTM1 MPLKIP TPP1 GCK BRAF IL12A CPLANE1 MYO1H CAPN3 RNASEH1 NARS1 RNASEH2C YME1L1 ATXN2 DDHD1 TGM1 COQ7 SH3TC2 UBTF NEMF NDUFV1 IFIH1 GLA SBF2 POMT2 ZFHX2 TRAF7 FLNC ELOVL5 PIGB ASAH1 CNTNAP1 IBA57 TREM2 PAK3 ECHS1 SPRED1 DNMT3A FOXRED1 MTRR AAAS NDUFAF3 FGD4 CDKN2B AMPD2 AGTR2 VRK1 HOXB1 AHCY SLC5A6 TNFRSF1B ANGPTL6 SUFU WASHC5 FMR1 HNRNPA1 COX20 ABCA1 NDUFS7 ZNF41 SLC12A1 CHMP2B CPT1C GABBR2 SLC9A7 EXT1 KCNJ11 NAGLU ADGRG1 TMEM106B OPA3 CXorf56 NOTCH2 SLC25A21 SLC12A6 NDUFAF2 CDKL5 NDUFAF5 B4GALNT1 LRPPRC RAD21 NGF MED25 NDUFA2 PPOX SCYL1 REV3L TIMMDC1 ALMS1 ALG2 ITGB4 NIPA1 TET2 CCND1 THPO FLII REEP2 ELP1 NDUFA10 ZNHIT3 SGPL1 CRYAB SOD1 B2M GTF2E2 IL10 TRIM32 RPS6KA3 MEGF10 FH FLRT1 MOCS2 OSTM1 GRIN2A PLEKHG4 SMCHD1 ARSI MGME1 BAP1 MAFA DLG3 MTTP LMOD3 SPTBN4 SIX5 SLCO2A1 MAFB DSE GPR101 ARHGEF10 ASCC1 GNB4 CHCHD10 SETD5 CLCNKB CLP1 SIM1 DKK1 PEX26 ATP7A CRAT GLE1 XPA SAR1B ATXN1 MED12 NDUFS8 ATRX SCO2 MT-TH NDUFS1 WARS1 INF2 ACSL4 SMN2 DNAJB6 MSH2 AK9 TERT MANBA SIL1 KRIT1 WNK1 GDF3 RASA1 TGFBR2 KARS1 TRIM2 UBA1 FBLN5 HDAC4 GNPTAB KCNC3 DAB1 PYROXD1 SYP MID2 NDUFS3 GNA14 MFF RAB7A ZNF711 SCN1A SAMD9L SPTLC2 TTC19 KMT2A PEX16 ALG14 DEGS1 VPS13D KY FRG1 CUBN SLC52A2 TLR4 UCHL1 PRRX1 DPAGT1 SLC25A19 XRCC4 RNF168 TSPAN7 PMS1 RAB39B PWRN1 TPRKB PEX3 TBP ENG CAV1 USP27X ARX INS FKTN LRSAM1 BMS1 HNRNPA2B1 DHX16 GRM1 EDNRB RPS20 HLA-DPB1 SPTLC1 PI4KA ELOVL4 SH2B3 CCM2 IL1RAPL1 MT-ND3 DHTKD1 EBF3 ERCC1 ARSB MT-CO2 SPTBN2 HP_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_NEUROPATHY SPG11 JAK2 VCP SLC2A1 PEX5 C11orf95 AIFM1 MFN2 SEPTIN9 PMS2 KCNJ1 TTPA KRAS POLG TET2 ATL1 PMP22 CASR CCND1 THPO MT-ND1 SLC19A2 RAI1 STAT4 DNMT1 NALCN DGUOK AR TOP3A GNAS CACNA1A FAN1 TP53 IL23R PTPN22 IL10 FAS GSN CTSD CCT5 MT-CO1 MSH6 HPDL GRIN2A NEFH PLEKHG4 TGFB1 PRRT2 KIF5A MEN1 MT-TS2 GAN DST PDCD1 TWNK EPCAM TYMP ALAD MLH3 MT-ND5 FXN ERLIN2 SRPX2 TRPV4 RELA UNC80 GPR101 GALC CLCNKB DKK1 HADHB MT-ND6 UBAC2 COMP SYNE1 HINT1 CRAT PLD3 SCN4A ATP1A2 SHMT2 TNXB TFG DNASE1L3 MT-TL1 IL12A RNF170 MT-TH HADHA IL12A-AS1 MT-ATP6 SCYL1 NTRK1 GBE1 C4A MSH2 NF2 ATL3 GLA PEX6 PIEZO2 TDP1 NAGA AIP CBLIF ARL6IP1 TGFBR2 IBA57 HLA-DRB1 STX16 MPL ALS2 MTHFR PSAP CCR1 ATP13A2 MT-TF PRPS1 GJB1 GNA11 PNPT1 CTDP1 ACOX1 GNA14 MT-CO3 RAB7A SCN1A PLP1 HK1 MT-TQ COL1A1 PRICKLE1 SPTLC2 PRTN3 GJC2 VPS13A MLH1 FMR1 HNRNPA1 COX20 CUBN TK2 LYST HMBS PIK3CA KLC2 ERAP1 TLR4 SLC12A1 IARS2 GABRG2 XRCC4 FGF14 SERPING1 PMS1 HLA-DPA1 APP SLC52A2 TNFRSF1A NAGLU RRM2B NLRP3 OPA3 CTLA4 CALR MEFV SLC12A6 HLA-B HNRNPA2B1 LIFR KLRC4 SLC12A3 MT-TW DHX16 RPS20 PEX1 CAPN1 TIMM8A HLA-DPB1 SPTLC1 SH2B3 MT-ND4 DHH SEMA4A BMPR1A ATXN8OS MT-CO2 MORC2 HLA-DQB1 HP_PERIPHERAL_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_DEGENERATION VCP WDR48 WFS1 SYNE1 TRIP4 ERCC6 AIFM1 MFN2 SETX STAT3 TXN2 MTMR14 POLG ABCD1 ALDH18A1 MT-ND1 ABCC8 RFC1 NDRG1 DGUOK B2M PDX1 LAMA2 SPG7 KRAS FLRT1 IFRD1 CTSD CCT5 DNM2 MOCS2 MYF6 RETREG1 MPZ UBQLN2 MT-CO1 PNPLA6 DARS2 RYR1 NEFH PLEKHG4 VPS13A JPH1 DCAF8 KIF5A MT-TS2 GAN TBCE HARS1 SURF1 TWNK TYMP MT-ND5 FXN PEX10 LMNA ADPRS ASCC1 NGLY1 HSPB1 KCNJ10 GNB4 DYNC1H1 KCNJ11 MT-ND6 CYP2U1 MT-ATP6 YARS1 TRPV4 HINT1 MPV17 PLD3 GLE1 POLG2 SHMT2 ATL1 TFG FLVCR1 C19orf12 COASY GCK MT-TL1 BRAF C12orf65 SEPTIN9 MT-TH WARS1 INF2 KLHL9 ABCA1 BIN1 ATAD3A KCNK9 GBE1 SERPING1 DDHD1 SH3TC2 NEMF ATL3 HSPB8 CTDP1 PIEZO2 TDP1 GMPPA NAGA ELOVL5 PIGB UBTF GDAP1 TYROBP MOCS1 BAG3 TRAPPC11 IBA57 MME GBA2 TRIM2 FBLN5 TUBB3 RRM2B AAAS ATP13A2 MT-TF SPG11 GJB1 IGHMBP2 MCM3AP ACOX1 ZFYVE26 MT-CO3 RAB7A AMPD2 ALAD HK1 MT-TQ PRICKLE1 TTR TTC19 GJC2 NEFL VPS13D HNRNPA1 KIF1B COX20 MARS1 TK2 DMPK ATXN3 KLC2 TBCD XK KIF1A SLC25A19 XRCC4 ERCC8 FGF14 PLA2G6 APTX FIG4 INS LRSAM1 SLC25A21 SLC12A6 HNRNPA2B1 MT-TW HMBS DHX16 CAPN1 MICU1 SPTLC1 COA7 ELOVL4 MT-ND4 COG8 MT-TE AARS1 MT-CO2 MORC2 PLOD1 SLC25A4 AFG3L2 HP_ABNORMAL_THORAX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THORAX_MORPHOLOGY WDR35 CLIP2 EXT2 PDHX PUF60 VCP CDH11 SOX4 HES7 GNB1 EVC XYLT1 WNT5A AGA CHRND DLL1 TNFRSF11B IFT122 SF3B4 RMRP HHAT MAP3K7 ZFPM2 PRKG1 SLC9A6 MGP CCDC22 MTOR TUBB ACP5 ABCC6 FMR1 CTNS KANSL1 NODAL TGFBR1 TRPS1 LIG4 AKT1 FAM20C HDAC8 FKTN TBX15 KCTD1 DYM IFT172 NSD2 NEB PAX1 CBS NSDHL SMAD3 ADA2 GPX4 TRPV4 SLC26A2 CDT1 ACTL6A GNPTG RNU4ATAC MBTPS2 KCNJ8 MYF6 KIAA0586 DYNC2I1 COL1A1 FUCA1 KIF7 SYT2 GLI1 SPEG MSTO1 ALDH18A1 INPPL1 TBL2 DHODH FBN1 B3GALT6 GPC3 ITGA7 CHRNA1 ACTB DNM2 ZMPSTE24 MEG3 GLB1 SOS1 GP1BB NELFA GNE MUSK ACAN MYOD1 DYNC2I2 PYCR2 COG4 IHH NF1 ALX4 BRAF ORC1 VAC14 OBSL1 GUSB LIMK1 SIM1 P3H1 SGCA CCDC8 CHAT PTPN11 NFASC CHRNE MET SFTPB TGFB2 COL11A2 LBR SMS PAX7 ATAD3A NADSYN1 DHCR7 SNX10 RPS15A PCYT1A SMC3 SLC18A3 RBBP8 CHRNG WRN MYBPC1 VAMP1 PLOD2 TRPV6 MAMLD1 IGF1R TTC21B FKBP10 PAX3 SELENON RECQL4 MAF COL2A1 HSPG2 MEOX1 RBM8A TTN ELMO2 PGAP2 SIX6 TGDS KMT2E COMT DYNC2H1 GPKOW RYR1 WNT7A MARS2 RPL11 RPS19 MED25 FBXL3 ENPP1 RUNX2 EIF2AK3 HDAC6 PIGS PTH1R WDR19 HPGD COL13A1 SMARCD1 PQBP1 BICD2 TNFRSF11A RIT1 RPS10 MAP2K1 SLC16A2 DONSON DYNC2LI1 EXOC6B ZBTB20 LMNA PPP1CB ERCC2 SLC34A3 BIN1 GBA SRD5A3 NOTCH3 EFNB1 MSX2 DLL3 SIK3 GTF2H5 TRAPPC2 RBM10 NSUN2 GLE1 CANT1 WNT3 MYL2 ACTA1 KCNQ1OT1 TRIP11 MBTPS1 AEBP1 PIEZO2 KDELR2 BMPER LGI4 PHF8 H19 PTEN BMP2 ATP7A FLNA NSD1 TAF1 KCNJ2 DVL1 RPS28 LAMB2 GJA1 CAPN3 FLNB PSMD12 WDR81 ARID1A B4GALT7 RRAS PPP2R1A ZEB2 SDHB VDR CDON ELN GATA4 FGFR2 SPRTN IFT80 MYPN SRPX2 SGCD DDRGK1 ANTXR1 CUL7 NRAS DCHS1 GATA6 SMARCC2 RPL5 TPM2 SLC35D1 MECP2 ZIC2 AIFM1 SHH ADA COL1A2 WDFY3 PTCH1 CASR RERE TMCO1 MYH7 DNM1L TBX3 SBDS KRAS PEX5 PGAP3 VPS37A RNF113A PTDSS1 FGFR1 TGFBR2 REST RRAS2 CD96 MTMR14 APC CSPP1 MYT1L PIGN UFD1 PYCR1 PIGL TCIRG1 FOXF1 CYP27B1 MAPK1 TNNT1 AMER1 TPM3 TRMT1 SEC23B TK2 ACTL6B RIPK4 SRCAP POLR2A PIK3CA SFTPC TNFSF11 AR MED13 GTF2IRD1 DLK1 NEK9 ALG2 BMP1 NAA10 IKBKG EMD SEC24D KLLN RPL15 RFC2 HNRNPK TMTC3 SIX3 ANK1 ITGA3 CYP21A2 NALCN SEMA3E RPS6KA3 XYLT2 MAP2K2 EZH2 ORC4 DYRK1A C19orf12 ATR ORC6 FGF8 DDX6 CRPPA WASHC5 PPIB LHX3 ZMIZ1 FLI1 SMARCE1 GATA1 TBCE FREM2 KDM6B LRP4 SDHD SON SUFU SOX2 CDH2 IDUA CCBE1 SETD2 FGFR3 NEPRO CHST3 CFL2 SMAD4 GZF1 RIN2 NAGLU SGCB COL5A1 ANKRD11 INPP5K MAP1B JMJD1C CBL NPR2 PTCH2 CRTAP RPL27 ERGIC1 INTS1 ADAMTS3 RSPRY1 SLC25A1 IFT43 UBA1 SIN3A CUL4B LZTR1 IARS2 RSPO2 EXTL3 MYSM1 ALDH3A2 BCOR MMP2 SLC2A10 TBX5 PORCN PIGQ PLAA SOX11 ARID2 SVBP RTL1 EBP POLG MOGS HYOU1 SOST ZC4H2 NIPBL HERC1 RPL35A SGCG FOXE3 KBTBD13 HACD1 PRDM16 PIGY SOX5 RPS7 RAPSN NEU1 TGFB3 TDGF1 CEP120 DNMT3A COLQ MTX2 SDHC ALPL NEDD4L TARS1 CTSK NKX3-2 TWIST1 MME MMP14 PRKACB PCGF2 TBCD ERMARD RLIM COL11A1 COL12A1 GLI3 EP300 EFL1 ODC1 CHD7 ARVCF IGF2 DACT1 IFT52 MESD SERPINH1 ZBTB16 TOR1A ABCC9 PIGO NFIX FBLN5 BAZ1B CDC45 MYO9A SMC1A SH3PXD2B KLHL41 EVC2 LAMA2 TCTN3 TMEM231 LFNG PIGU EYA1 KLHL7 IDS P4HB TRAPPC4 PLOD1 ABL1 SALL4 PIGW LRP5 MMP13 ERLIN1 MED12 FBN2 TBX1 ARFGEF2 SEPTIN9 FARSB FHL1 TSR2 IGBP1 TRMT10A TENT5A KMT2A IFT140 SKI CHST14 GDF6 HNRNPH2 TELO2 MLXIPL TNPO3 MAP3K20 FBXW11 CYP2R1 CPLX1 OCRL SEC24C PSMB8 TBC1D24 DLG3 ABCA3 GTF2I SETBP1 USF3 HBA2 AGRN SLC17A5 CREB3L1 KYNU MYLK FRAS1 SOS2 B3GLCT MIR140 OTUD6B LMX1B DOCK3 SNX14 MAN1B1 SCN4A MYF5 SPECC1L NGLY1 POR CDC6 SNAP25 PPP1R15B PHEX UPF3B COMP COL3A1 HINT1 SHOC2 SFRP4 TRIO HRAS SGSH MFAP5 RET MPLKIP KIF1B SALL1 NTNG1 TCF20 CCDC47 C12orf65 INTU FAM111A ADAMTSL2 SMARCAL1 LTBP2 LOX SOX9 MRAS FZD2 UBTF CHRNB1 FUZ MAT2A TBX6 PCNT GNPTAB DPF2 GMPPB LETM1 SPRED1 POLR3A MESP2 POGLUT1 GPC4 CHRM3 TRIP4 CHST11 B3GAT3 SQSTM1 PIEZO1 SRP54 SC5D PIK3R2 KCNAB2 SOX10 ERF IRF6 RIPPLY2 HBA1 IFT57 SMO GAS1 SRY GDF3 HSD17B4 SLC2A1 SLC12A2 MAN2B1 FGD1 IL1RN CDC42 RPS24 ALG12 KLHL40 EXT1 ADGRG1 RPL18 NOTCH2 GORAB DOK7 ZDHHC9 PIK3C2A GABRD COG1 SLC10A7 RAF1 PIGT FN1 SP7 RAD21 HOXD13 SMARCB1 CSGALNACT1 PACS1 RAB33B RNF135 MTM1 MGAT2 CENPJ C2CD3 TMEM43 TONSL ALMS1 ATP6V0A2 RASA2 COL5A2 ARID1B MAPRE2 ASXL1 ACTA2 VPS33A DISP1 MATN3 NOG GTF2E2 ARF1 MEGF8 BMPR1A CFAP410 MEGF10 PLCB3 POMT2 VPS13B RREB1 SEC23A DNAJC21 TANC2 RPL35 MYH11 DES TBCK RPL31 HIRA SMCHD1 GSC PEX1 NKAP DDR2 ASAH1 KDM5C SNRPB GFPT1 ANO5 RAB3GAP2 NUP107 WNT1 LIFR A2ML1 NARS1 DSE FOXH1 MYH3 PRKACA SETD5 RPL26 MYH2 SMARCA4 MED12L PRNP DVL3 LMOD3 FAT4 SLC5A7 PIGV COL10A1 GAD1 SYNE2 IFT81 FAM149B1 TBX2 OFD1 ROR2 RTTN PROKR2 IRX5 KIF22 TUBB3 CHD4 GMNN AK9 VANGL1 ITCH TAPT1 CEP152 ERCC3 SCARF2 SIL1 PPP3CA NXN RPS17 PYROXD1 CILK1 EFEMP2 JAG1 GALNS BUB1B BGN TGIF1 FIG4 APC2 ALG14 PAM16 ACTG2 GLI2 FERMT1 BANF1 FRG1 CLCN7 GNS DPAGT1 HUWE1 NEK1 CTBP1 BPTF ATRX KAT6A FGFRL1 G6PC3 RPS26 CREBBP RPS29 OPA1 BCORL1 PTF1A HGSNAT PDGFRB ADAMTS10 POP1 PI4KA DYSF DYNLT2B RPS27 SYNE1 ARSB WNT4 UBE3B HP_ABNORMAL_STERNUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STERNUM_MORPHOLOGY ABL1 CLIP2 PIGW PDHX PUF60 CDH11 GNB1 ATP7A MED12 EVC XYLT1 WNT5A AGA FBN2 IFT122 RMRP ZFPM2 PRKG1 FARSB IGBP1 TRMT10A KMT2A IFT140 SKI CHST14 ACTA1 HNRNPH2 TUBB PIEZO2 TELO2 MLXIPL ABCC6 COL1A2 FMR1 CTNS KANSL1 MAP3K20 TGFBR1 TRPS1 LIG4 B3GALT6 AKT1 CYP2R1 CPLX1 FAM20C HDAC8 FKTN MEG3 GBA GTF2I DYM IFT172 NSD2 CBS PTEN USF3 SMAD3 HBA2 GNPTG MBTPS2 MSTO1 DYNC2I1 FHL1 SYT2 ALDH18A1 TTC21B FBN1 MYLK FRAS1 SOS2 B3GLCT TNNT1 TBL2 DHODH GPC3 ITGA7 SNX14 MAN1B1 GLB1 MYF5 SOS1 SPECC1L SMC1A SNAP25 PPP1R15B MAP3K7 MYOD1 TNFRSF11B PHEX PYCR2 UPF3B COG4 COL3A1 IHH NF1 BRAF SHOC2 ORC1 PLAA TRIO HRAS SETBP1 VAC14 OBSL1 LIMK1 MFAP5 RET COL2A1 CHAT CCDC47 PTPN11 CBL AGRN MET ADAMTSL2 TGFB2 LTBP2 LOX NFIX LBR SMS ATAD3A MYPN MRAS FZD2 UBTF TPM3 SMC3 SLC18A3 CHRNG VAMP1 PLOD2 MAT2A IGF1R TBX6 FKBP10 MAF KIF7 HSPG2 DYNC2H1 MAP2K1 TBX5 ELMO2 PGAP2 SPRED1 COL13A1 TGDS LETM1 WNT7A MARS2 GPC4 CHRM3 CD96 MED25 ACTB RBM10 TRIP4 CHST11 B3GAT3 DYNC2LI1 PIGS WDR19 ZEB2 HPGD PIEZO1 PQBP1 RIT1 SOX10 ERF SLC16A2 HBA1 KRAS ZBTB20 PPP1CB PTCH1 SLC34A3 EFNB1 SRY EVC2 HSD17B4 SIK3 NSUN2 SLC12A2 MAN2B1 MYL2 FGD1 TRIP11 CDC42 MBTPS1 AEBP1 DYRK1A KDELR2 BMP2 SLC9A6 LMNA SOX9 NSD1 TAF1 ACP5 DVL1 NOTCH3 FLNB ADGRG1 B4GALT7 RRAS NOTCH2 GORAB PPP2R1A ZDHHC9 TGFB3 SDHB VDR ELN SPRTN FLNA SRPX2 TRPV4 CUL7 SEC24D NRAS RAF1 WDR35 MECP2 AIFM1 PIGT FN1 SP7 RAD21 CSGALNACT1 INPPL1 PIK3C2A PACS1 RAB33B RNF135 RPS6KA3 PGAP3 VPS37A MGAT2 FGFR3 TMEM43 TGFBR2 REST RRAS2 ATP6V0A2 RASA2 PYCR1 ARID1B MAPRE2 CYP27B1 ACTA2 TPM2 AMER1 VPS33A SEC23B PIK3CA SMAD4 POLR2A MATN3 NOG MEGF8 GTF2IRD1 MEGF10 DLK1 VPS13B BMP1 EMD GATA6 KLLN RFC2 HNRNPK MYH11 TBCK IFT80 NALCN NKAP DDR2 ASAH1 KDM5C ORC6 RAB3GAP2 NUP107 A2ML1 NARS1 DSE PPIB ZMIZ1 SOX5 SETD5 KDM6B SDHD SUFU DVL3 LMOD3 SLC5A7 PIGV PIGL SETD2 TNFRSF11A SYNE2 NEPRO CHST3 MYH3 FAM149B1 SELENON CFL2 NAA10 GZF1 RIN2 ROR2 PROKR2 COL5A1 TBX3 IRX5 INPP5K PTCH2 CRTAP MAP2K2 ALPL ITCH INTS1 NIPBL DACT1 DYNC2I2 RSPRY1 SCARF2 SLC25A1 SIL1 LZTR1 MME NXN NEB EXTL3 BCOR SLC2A10 EFEMP2 GALNS PIGQ COL11A2 IFT43 ARID2 BUB1B RTL1 BGN FIG4 APC2 HYOU1 CCBE1 FOXE3 HACD1 PIGY NEU1 CEP120 MTX2 SDHC PCGF2 TBCD COL12A1 HUWE1 NEK1 EP300 CTBP1 IFT52 KAT6A FGFRL1 G6PC3 CREBBP GUSB PIGO FBLN5 BAZ1B MYO9A LMX1B PTF1A SH3PXD2B KLHL41 TCTN3 PI4KA TMEM231 PIGU SYNE1 ARSB PLOD1 HP_PECTUS_EXCAVATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM ABL1 CLIP2 PIGW PDHX PUF60 RPS6KA3 KRAS CDH11 GNB1 PGAP3 MGAT2 FGFR3 ATP7A MED12 XYLT1 WNT5A TMEM43 IFT122 PPP1R15B TPM3 RRAS2 FARSB ATP6V0A2 NRAS RASA2 FGD1 IGBP1 TRMT10A KMT2A SKI CHST14 ACTA1 TUBB MAPRE2 PIEZO2 TELO2 TPM2 AMER1 MLXIPL COL1A2 FMR1 SEC23B KANSL1 MAP3K20 WDR35 TGFBR1 PIK3CA POLR2A MATN3 LIG4 B3GALT6 AKT1 NOG FAM20C HDAC8 FKTN NOTCH3 MEGF8 MEG3 GBA ZEB2 GTF2IRD1 MEGF10 DLK1 GTF2I CBS PTEN USF3 VPS13B EMD MBTPS2 MSTO1 KLLN RFC2 MYPN HNRNPK TBCK FHL1 SMAD3 FLNB TGFBR2 ALDH18A1 NKAP GPC3 DDR2 DYRK1A SOS2 KDM5C MAN2B1 B3GLCT TBL2 DHODH RAB3GAP2 NUP107 ITGA7 A2ML1 TRIP4 NARS1 GPC4 PPP2R1A PPIB MYF5 SOS1 RAF1 SPECC1L ZMIZ1 SMC1A SETD5 KDM6B SDHD MAP3K7 PTPN11 MYOD1 UPF3B COG4 FBN1 COL3A1 IHH DVL3 NF1 TGDS BRAF SHOC2 LMOD3 BMP2 TRIO PIGV LIMK1 RET PIGL SETD2 SYNE2 NEPRO MYH3 CCDC47 SELENON CFL2 DVL1 NAA10 CBL MET ADAMTSL2 IGF1R ROR2 LTBP2 LOX NFIX SMS PROKR2 COL5A1 MRAS FZD2 IRX5 CRTAP SMC3 MAP2K2 CHRNG CHRM3 ITCH FLNA INTS1 SCARF2 MAF KIF7 COL2A1 HSPG2 MAP2K1 PIGT TBX5 PGAP2 NXN NEB EXTL3 BCOR SLC2A10 CD96 EFEMP2 ACTB PIGQ COL11A2 IFT43 ARID2 RTL1 RBM10 CHST11 APC2 WDR19 HPGD PIEZO1 PQBP1 NIPBL MFAP5 CCBE1 HACD1 SOX10 ERF PIGY SLC16A2 ZBTB20 PPP1CB MTX2 SDHC EFNB1 SRY HSD17B4 SIK3 NSUN2 PCGF2 TBCD MYL2 COL12A1 HUWE1 AEBP1 KDELR2 EP300 IFT52 KAT6A VPS33A SLC9A6 LMNA NSD1 TAF1 CREBBP ELN ADGRG1 RRAS PIGO ZDHHC9 TGFB3 FBLN5 BAZ1B SDHB LMX1B RIT1 SPRTN SRPX2 CUL7 SH3PXD2B SEC24D KLHL41 LZTR1 TCTN3 PI4KA TMEM231 MECP2 PIGU SYNE1 PTCH1 RAD21 CSGALNACT1 INPPL1 PLOD1 PACS1 HP_PECTUS_CARINATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_CARINATUM VAMP1 PLOD2 RPS6KA3 VPS37A TBX6 ATP7A EVC XYLT1 FKBP10 SLC25A1 AGA COL2A1 TRPS1 HSPG2 FBN2 MAP2K1 SIL1 RMRP WNT5A RRAS2 NRAS RASA2 MME COL13A1 TGDS NXN SKI PYCR1 HNRNPH2 SLC2A10 WNT7A TNNT1 MARS2 VPS33A KANSL1 CHRM3 TGFBR1 MED25 FBN1 B3GALT6 ACTB DYM PLAA COL11A2 PTPN11 MEGF8 BGN ZEB2 B3GAT3 PIGS MYH3 UPF3B CBS HYOU1 BMP1 HBA2 MFAP5 TGFBR2 GNPTG MBTPS2 PIEZO2 SOX5 NEU1 HBA1 SMAD3 KRAS SYT2 FLNB NALCN BRAF PPP1CB NKAP EVC2 SOS2 MAN2B1 TELO2 PCGF2 RAB3GAP2 TBCD SLC12A2 A2ML1 SNX14 MAN1B1 TRIP11 MBTPS1 NEK1 PPIB SOS1 RAF1 BMP2 ZDHHC9 ROR2 SNAP25 G6PC3 ACP5 TNFRSF11B PYCR2 COG4 GUSB IHH DVL3 B4GALT7 ORC1 SMS RRAS SLC5A7 NOTCH2 GORAB HRAS TGFB3 MYO9A NF1 RIT1 TNFRSF11A PTF1A CHAT CHST3 FAM149B1 TRPV4 DVL1 LZTR1 AGRN GZF1 ATAD3A KIF7 MRAS FN1 TBX3 SP7 FZD2 INPP5K CBL UBTF RAB33B SLC18A3 RNF135 HP_ABNORMALITY_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BREAST RAD51D RAD51C KDM1A PIGW NFIX UBR1 CYP11A1 ANOS1 CDH11 CDKN1A FSHR PROP1 SMPD4 C11orf95 NQO2 PRKAR1A GNRH1 KDM6A RAD51 AIP SLC6A17 ACOX1 TWIST2 ATR CCDC22 PROKR2 TUBB AKT1 NR5A1 AKT2 ARCN1 CDKN2B CYP11B1 IL17RD CASP8 HDAC8 SLC29A3 CDH23 PSMB8 PTEN MLH1 KCTD1 USF3 ASXL1 HFE RSPO2 CDT1 KIAA0586 PRKCD FGFR1 WDR37 PALLD PALB2 DMRT3 FRAS1 SOS2 AR B3GLCT LHB DHODH LHX4 ALG9 GPC3 COX7B MAN1B1 RELA MITF ARHGEF2 SOS1 WDR11 SMC1A NELFA GATA4 HESX1 CDC6 PHF6 MEN1 RAD54L MASP1 FGF8 ORC1 IDH2 TP63 SETBP1 VAC14 TRAF7 APC MPLKIP RASGRP1 PEX3 BRCA2 CCDC47 KANSL1 SMARCA2 ALG11 MSH2 UBE2A INTU CBL CKAP2L COG7 GLI2 BARD1 SMS ALMS1 MRAS DHCR7 KISS1R CERT1 BLM PROK2 YY1 SLC22A18 SMC3 MAB21L1 WRN KIFBP CHRNG SPRY4 SEC23B PSMC3IP DCC IGF1R RFT1 PPM1D BRIP1 GNPTAB CDKN2A PMM2 PGAP2 SEMA3A LETM1 POLR3A WNT7A MADD COL14A1 GPC4 ACTB SMCHD1 MSH6 ATM ERMARD ZFPM2 PIGL ACD PRLR DHX37 TAC3 KRAS FGF17 ZBTB20 HSD17B3 ERCC2 ANTXR1 LEP TFAP2B NR0B1 TACR3 EFNB1 VAMP7 SRY NONO GNRHR NSMF PHB GTF2H5 AMMECR1 CDK4 WNT3 SOX9 BRCA1 RNF43 COQ8A SRA1 ARHGAP31 SLC25A24 CHEK2 ALG12 XRCC3 SLC35A2 COLEC11 RRAS SEMA3E IDH1 SDHB NECTIN1 FOXA2 CYP17A1 EDARADD FREM2 RIT1 LMNA COG1 MC1R HNRNPK CTNNB1 NDNF ORC4 DPAGT1 AAGAB PIGT TBL1XR1 KNSTRN SMAD4 RAD21 MRE11 MAP3K1 PACS1 TMCO1 RAB18 POC1A RSPO1 BNC1 STK11 TP53 COLEC10 TBX3 HPGD NUP107 TCF4 PGAP3 RNF113A PIK3CA REV3L RRAS2 DUSP6 SH3PXD2B NRAS RASA2 FAS USP9X PIGN MAPRE2 BAP1 KIF15 AMER1 POU1F1 AXL RIPK4 FEZF1 GNAS SOX6 NUP188 GTF2E2 MEGF8 ZEB2 NSD2 IKBKG RB1CC1 TRRAP KLLN RBM28 ITGA3 CYP21A2 NBN SLC25A46 POLR3H SPIDR EZH2 NIN ESR1 WT1 ORC6 PIK3CD CDKN1B RAB3GAP2 HSD3B2 ALG14 NTHL1 SLCO2A1 A2ML1 WASHC5 GPR101 CASP10 ATN1 RAF1 ERCC6 PTPRF SETD5 KDM6B TCF20 SDHD ABCD4 CYB5A CDH2 PIGV INSR POT1 CHD7 FGFR2 OFD1 MGMT MAF GRIP1 MDM2 HS6ST1 CCDC141 DLK1 RAD50 FASLG GMNN POLE FMR1 NIPBL ERCC3 POLD1 BRAF UBA1 HMMR CHST3 CDKN2C MEFV TERT CUL4B CYP19A1 NF1 CDH1 PORCN CILK1 DDX6 MDH2 PTPN11 EDA LAS1L FIG4 ZC4H2 WAC MEG3 PIGY KMT2A RTL1 TFAP2A RERE SDHC TARS1 WASF1 FSHB PPP2R5D PLXND1 RNF216 KAT6A SOX10 BMP15 DOLK PNPLA6 IBA57 TWIST1 HDAC4 ADNP DYRK1A CPT2 AFF4 CSPP1 PIGO SOX3 CDC45 FLRT3 PRKN LZTR1 MRPS22 TERF2IP GNE LEPR OTX2 KLHL7 EBF3 OPCML KISS1 WWOX HP_GYNECOMASTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GYNECOMASTIA RSPO1 STK11 FMR1 CYP11A1 ANOS1 HPGD SPRY4 DCC NR5A1 GNRH1 ALMS1 DUSP6 CHD7 SH3PXD2B SEMA3A FGF17 LEP CYP17A1 FGF8 HSD17B3 PROKR2 POLR3A CDH23 CUL4B CYP19A1 SEC23B AKT2 GNRHR AXL CYP11B1 PIK3CA IL17RD FGFR1 FEZF1 SMCHD1 AKT1 SLC29A3 AR WDR11 NSMF KISS1R PSMB8 LAS1L ERMARD ZFPM2 SRY RBM28 USF3 HFE DHX37 KLLN TAC3 ITGA3 CYP21A2 ZBTB20 SDHC NR0B1 TACR3 VAMP7 DMRT3 WT1 LHB HSD3B2 SLCO2A1 SOX9 HS6ST1 RNF216 COQ8A SRA1 PTEN AIP SOX10 GATA4 HESX1 PHF6 MEN1 SDHD PNPLA6 CCDC141 CYB5A AFF4 HDAC8 SEMA3E SDHB FLRT3 NDNF PROK2 LEPR MAP3K1 KISS1 WWOX HP_ABNORMALITY_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RIBS MTM1 WDR35 EXT2 SBDS MMP13 PUF60 HES7 GLI3 CENPJ EVC DDRGK1 C2CD3 DLL1 IFT122 SF3B4 FLNB RMRP KIAA0586 LBR MAP3K7 CEP120 MTMR14 APC MGP TENT5A KMT2A IFT140 SKI GDF6 PTCH1 SLC26A2 CCDC22 TCIRG1 CHRND FOXF1 CYP27B1 AMER1 CTNS DISP1 NODAL TNFSF11 CYP2R1 CPLX1 NOG OCRL TBC1D24 MEG3 ACTA1 CFAP410 DLK1 PLCB3 RPS19 TBX6 IFT172 NSD2 SETBP1 NSDHL DONSON NEK9 GPX4 IKBKG RSPO2 DNAJC21 RNU4ATAC KCNJ8 ZMPSTE24 MYF6 SEC24D COL11A2 DYNC2I1 RYR1 TBCK SIX3 FGFR2 COL1A1 ANK1 RRAS2 IFT80 SEMA3E CREB3L1 TTC21B EZH2 GPC3 ORC4 XYLT1 DDR2 MAN2B1 INPPL1 SNRPB ATR ORC6 FBN1 COL2A1 FGF8 BMPER WNT1 LIFR CHRNA1 GPC4 DNM2 WASHC5 GLB1 PPIB MYF5 FOXH1 COL11A1 COL1A2 SMAD4 NELFA TBCE CDC6 CHD7 DYNC2H1 LRP4 SON MUSK SUFU SOX2 COG1 DYNC2I2 PHEX COMP IHH TRPV4 DYNC2LI1 LMOD3 ORC1 IDUA PTH1R BMP2 SGSH VAC14 OBSL1 PTDSS1 COL10A1 ANKRD11 P3H1 IFT81 SALL1 MBTPS2 TMCO1 CCDC8 CHRNG CHST3 MYH3 PTPN11 CDT1 NFASC INTU FAM111A ROR2 MAF RTTN BIN1 SOX9 NAGLU DHCR7 SNX10 KLHL41 PTCH2 PCYT1A CRTAP FUZ GMNN ALPL CHRM3 VANGL1 RTL1 TAPT1 CEP152 TRPV6 MAMLD1 NIPBL SCARF2 RECQL4 HSPG2 MEOX1 SOST GDF3 ABCC9 TBX5 IFT43 RBM8A HDAC6 SIX6 LETM1 PPP3CA NXN GNPTAB POLR3A FLNA TRIP11 WNT7A IDS MESP2 FGFR3 PORCN JAG1 ACTB GALNS DYM GLE1 RUNX2 TGIF1 ERMARD FIG4 BGN B3GAT3 SLC34A3 SRP54 TNFRSF11A CUL7 KCNAB2 PRDM16 IRF6 RIPPLY2 EXOC6B TDGF1 PAM16 IFT57 SMO LRP5 DNMT3A GAS1 MTX2 GLI2 NKX3-2 DLL3 FERMT1 BANF1 EVC2 CLCN7 GNS WNT3 MATN3 IL1RN NEK1 CTBP1 ODC1 LMNA ALG12 DACT1 HOXD13 GATA6 KLHL40 FGFRL1 FLI1 SERPINH1 EXT1 ZBTB16 TOR1A CSPP1 CDC45 VDR CDON SMC1A B3GALT6 LMX1B GABRD SLC35D1 NEB HGSNAT WDR19 ADAMTS10 ZIC2 LFNG AIFM1 PAX3 SHH ADA P4HB ARSB RERE ATP7A HP_SHORT_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_RIBS ALPL WDR35 INPPL1 ORC6 TAPT1 COL2A1 TRPV6 EVC TTC21B COL11A1 DDRGK1 C2CD3 IFT122 SF3B4 NEK1 MYF5 KIAA0586 IFT43 CEP120 ALG12 IFT172 DYNC2H1 SUFU GNPTAB GPX4 SLC26A2 DYNC2I2 TRIP11 IHH TRPV4 DYNC2LI1 FGFR3 ORC1 PORCN PTH1R CSPP1 SETBP1 VAC14 DYNC2I1 LMX1B RUNX2 SLC35D1 IFT81 FIG4 IFT80 FLNA PLCB3 NSDHL CUL7 INTU MEG3 COL11A2 LBR RTL1 PAM16 SMO PTCH1 PTCH2 DLK1 NKX3-2 EZH2 IFT140 EVC2 DDR2 HP_ABNORMALITY_OF_THE_DIAPHRAGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIAPHRAGM VANGL2 ABL1 CHRNG SOX4 HCCS HES7 MTHFR TRIP4 MN1 NIPBL ADGRG6 DACT1 DPF2 KIAA0586 ZFPM2 ARID2 SIN3A KDM6A SH2B1 LETM1 RSPO2 WNT3 RLIM PIGN SMC1A ARID1B SLC2A10 MESP2 LRP2 PORCN GPC4 CD96 EFEMP2 KDM3B SOX11 HDAC8 DIS3L2 SUFU COX7B ACTA1 HYLS1 B3GAT3 KCNA1 WNT4 POGZ NDUFB11 NSD2 SMARCD1 WT1 GATA6 TRRAP IGHMBP2 KMT2A GLI3 RIPPLY2 RPS26 TRAIP KIF7 EFNB1 ADAT3 FLNA GPC3 DLL3 PCNA ALG9 SMARCE1 HOXD13 NELFA SETD5 GNE KLHL40 SMARCA4 MYOD1 ASNS HDAC4 KMT2D LMOD3 ARID1A MCTP2 FBLN5 RARB GATA4 MTM1 DNAJC19 PBX1 NEB CHST3 STRA6 SMARCC2 PLOD3 MAF LFNG DHCR7 RPS28 STAG2 RAD21 KLHL41 SMARCB1 SMC3 NR2F2 SEC31A HP_CONGENITAL_DIAPHRAGMATIC_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA VANGL2 ABL1 CHRNG SOX4 HCCS HES7 MTHFR MN1 NIPBL DACT1 DPF2 KIAA0586 ZFPM2 ARID2 SIN3A KDM6A SH2B1 LETM1 RSPO2 RLIM PIGN SMC1A ARID1B SLC2A10 MESP2 LRP2 PORCN GPC4 CD96 EFEMP2 KDM3B SOX11 HDAC8 DIS3L2 SUFU COX7B B3GAT3 KCNA1 WNT4 POGZ NDUFB11 NSD2 SMARCD1 WT1 GATA6 TRRAP KMT2A GLI3 RIPPLY2 RPS26 TRAIP KIF7 EFNB1 ADAT3 FLNA GPC3 DLL3 PCNA ALG9 SMARCE1 HOXD13 NELFA SETD5 SMARCA4 HDAC4 KMT2D ARID1A MCTP2 FBLN5 RARB GATA4 PBX1 CHST3 STRA6 SMARCC2 MAF LFNG DHCR7 RPS28 STAG2 RAD21 SMARCB1 SMC3 NR2F2 SEC31A HP_ABNORMALITY_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYMUS VANGL2 DCLRE1C CDKN1B CDKN1A ALG14 MTHFR TBX1 ATM TP63 PEX5 IL2RG POLR1C GP1BB ARVCF NSMCE3 RORC WIPF1 TTC37 CHD7 CDKN2C COMT G6PC3 WAS AK2 UFD1 TTC7A SKIV2L TCOF1 ERCC8 SEC24C RAG1 CDKN2B ANTXR2 NEK9 EPG5 RREB1 PTEN POLR1D MEN1 TFAP2A HIRA RAG2 JMJD1C ADA SEMA3E AKT1 FRAS1 HP_ABNORMAL_SCAPULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCAPULA_MORPHOLOGY MEOX1 EXT2 DNM1L TBX3 VCP COL11A1 TMEM43 TRPV4 ALG2 SEPTIN9 ATP6V0A2 FHL1 TSR2 PAX3 ACTA1 GDF6 TPM3 TK2 TNPO3 MAP3K20 RIPK4 FLNA PSMB8 TBX15 SF3B4 NEB PAX1 NSDHL POMT2 ADA2 GPX4 MYH7 COL11A2 RPL35 RPL15 RPL31 SMCHD1 SPEG GSC LMNA C19orf12 INPPL1 GFPT1 LMX1B ANO5 ITGA7 ACTB CRPPA GATA1 GNE RPL26 SUFU MYH2 EYA1 CDH2 ORC1 EMD VAC14 RYR1 OBSL1 SYNE2 SGCA TMCO1 CCDC8 SELENON PTPN11 TBX2 CAPN3 TTN LBR COL3A1 SOX9 MYPN SGCB TPM2 RPS15A NPR2 PTCH2 DLK1 RPL27 MYBPC1 PCNT SCARF2 TRPS1 HSPG2 GNPTAB SOST GDF3 TBX5 GMPPB RSPO2 RPS17 TRIP11 PYROXD1 RPL11 RPS19 POGLUT1 FGFR3 DYM COL2A1 RUNX2 POLG FIG4 SQSTM1 BICD2 RPL35A MEG3 CUL7 SGCG KBTBD13 RPS10 HACD1 RPS7 ALG14 RTL1 WDR35 PTCH1 BIN1 COLQ BRAF EFNB1 FRG1 KLHL41 MYL2 DPAGT1 LGI4 RPS24 KCNJ2 RPS26 RPS28 LAMB2 EXT1 FLNB MAP3K7 RPS29 RPL18 OPA1 SLC35D1 SGCD RPL5 DYSF RAF1 RPS27 SYNE1 CSGALNACT1 FGFR1 COL12A1 HP_PRIMARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_AMENORRHEA TP63 BNC1 ANOS1 NDNF NUP107 FSHR EIF2B1 NR5A1 HESX1 GNRH1 LARS2 DUSP6 LHX4 FGF17 PROKR2 ESR1 AXL IL17RD WT1 FEZF1 MAGEL2 NSMF HDAC8 SNRPN DHH ROBO1 WDR11 SMCHD1 CAV1 ITGA8 MRPS22 MSTO1 NDN FGFR1 POLR3H SPIDR DMRT3 NIN SYCE1 GPR161 STAG3 POLG GDF9 SMC1A GATA4 SETD5 EIF2B2 SIM1 HERC2 CYB5A CYP19A1 FGF8 PWAR1 CDON EIF2B3 CHD7 PSMC3IP TRMT10A PROK2 MCM8 HS6ST1 KISS1R NPAP1 CCDC141 TAC3 SEMA3A SMC3 BMPR1B POF1B SNORD116-1 PEX6 CTDP1 SPRY4 DCC TWNK TACR3 LEP CYP17A1 EIF2B4 DHX37 MKRN3 FSHB SNORD115-1 FIGLA GNRHR PCSK1 ZFPM2 SRY EIF2B5 NIPBL KMT2A OCA2 AR NR0B1 CISD2 ERAL1 VAMP7 SOHLH1 SOX9 BMP15 SRA1 NOBOX PWRN1 PPARG SOX10 MCM9 HSD17B4 SEMA3E GALT FLRT3 ESR2 PEX1 CLPP LEPR RAD21 MAP3K1 KISS1 WWOX WNT4 HP_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROLITHIASIS CLDN19 CLIP2 SLC37A4 CDKN1A HSPG2 HNF1B SLC3A1 MOCS1 SMAD4 KCNH1 APRT HPRT1 ATP6V1B1 CDC73 ATP7B CDKN2C GNA11 BTNL2 AIP GNAS PRPS1 BSCL2 CTNS PLCD1 PREPL SI CASR OCRL SLC9A3R1 USP8 IGF2 SLC6A19 CDKN2B CACNA1D AGXT GTF2IRD1 SLC34A1 SLC34A3 GTF2I OPLAH GRHPR SLC5A1 CREBBP SETBP1 ENG PPM1B CLDN10 MOCS2 MEN1 SLC36A2 RFC2 KRT17 EP300 AR GCM2 ADAMTSL1 GDF2 XDH TBL2 PKD1 CDKN1B ARMC5 G6PC DSE VDR CLCN5 CAMKMT HOGA1 SLC2A9 ACVRL1 CDH23 SERPINH1 PLG SLC7A9 FBN1 BICC1 SLC22A12 AGPAT2 BAZ1B NOD2 LIMK1 ELN CYP27A1 GANAB ADCY10 HGD HLA-DRB1 MICOS13 KCNQ1 KCNQ1OT1 MGME1 SLC26A1 ANTXR1 PAX2 SLC6A20 CYP24A1 CDKN1C CTH CHST14 PKD2 CLDN16 AP2S1 MOCOS SLC1A1 HP_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERTILITY NME8 ZP2 DNAH17 RPGR DNAAF4 AMH PROP1 FOXL2 SOHLH1 NR5A1 CATSPER1 RSPH4A GNRH1 ZP1 NANOS1 CCDC151 FCGR2A SLC26A8 PADI6 DNAH2 SYCP2 HSD17B3 RBMY1A1 DNAAF1 M1AP PANX1 CCDC114 CTNS PLIN1 POU1F1 AXL MAGEL2 CFAP298 PPP2R3C AR SNRPN CDH23 TSPY1 CCDC103 BTG4 GBA2 ZMYND10 HFE CCNO FEZF1 DNAAF6 DNAI1 H6PD NDN LRRC6 AMHR2 GAS2L2 ARMC2 PMFBP1 STK36 CFAP43 NEK10 XRCC2 CCDC65 DMRT3 SUN5 WT1 LHX4 RSPH1 GAS8 SEPTIN12 CFTR DNAL1 GATA4 DNAH11 TGFB1 SIM1 DNAH9 CFAP58 PTPN11 HERC2 TEX14 BRAF PWAR1 DNAI2 CEP112 TSGA10 CATSPER2 DNAH1 TLE6 GLI2 CFAP70 AK7 DDX3Y HUWE1 MNS1 FOXJ1 NPAP1 OFD1 BLM QRICH2 DAZ4 SNORD116-1 STRC DNAAF3 DNAAF5 SPAG1 CFAP300 CYP19A1 DNAH5 FANCA TTC12 MAP2K1 PLCZ1 CCDC40 LHCGR HYDIN MKRN3 FSHB PATL2 DZIP1 SNORD115-1 FIGLA CFAP65 GNRHR TUBB8 FGF17 STUB1 DAZ2 CEP19 LRRC56 NR3C1 WDR11 USP8 BRDT SPATA16 DUSP6 ZFPM2 SRY CFAP221 RSPH3 WEE2 CFAP251 SPEF2 DHX37 PRLR DRC1 OCA2 RSPH9 FSIP2 NR0B1 KLHL10 VAMP7 DNAAF2 TRIP13 HESX1 ZP3 PGR SOX9 TTC25 SRA1 MEIOB RNF216 GCM2 CFAP44 PWRN1 ARMC4 ADGRG2 AURKC HJV CCDC141 DAZ3 DNAJB13 SEMA3E USP9Y DAZ1 C11orf80 TEX11 DNAH8 GALT SOX3 FOXA2 SPRY4 MCIDAS MEI1 DHH TTC29 OTX2 CCDC39 CDC14A MAP3K1 WWOX HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS C1QA PGM3 SOX18 LMNB2 C1QB C3 C1QC HP_ABNORMALITY_OF_THE_URETHRA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETHRA ABL1 WDR35 KDM1A CLIP2 WT1 UBR1 CYP11A1 CDH11 HES7 EVC TBX1 ATRX WNT5A BRCA1 LMNA BCOR TSR2 RPGRIP1 RTEL1 CCDC22 MLXIPL PSPH PEX6 ARCN1 KANSL1 CYP11B1 CEP55 LIG4 CPLX1 SLC25A10 PEX2 HDAC8 SEC24C GLI3 RAC1 KRAS CDKN1C COX7B PLD1 GTF2I KIFBP NSD2 DHCR7 SETBP1 NDUFB11 FANCM ADA2 FBLN5 HBA2 MAMLD1 THOC6 KIAA0586 HPSE2 TBX22 KIF7 EP300 GLI1 PDE4D DMRT3 FRAS1 TMEM107 B3GLCT FGF10 SRCAP TBL2 TP63 GPC3 PEX5 PEX26 WNT4 XRCC2 GP1BB PEX13 SMC1A SETD5 NELFA GATA4 CDC6 DYNC2H1 RBBP8 MNX1 FLNA DYNC2I2 CREBBP MKS1 CARS1 LAMC2 FLT4 VAC14 MAP3K1 C2CD3 PTDSS1 LIMK1 WASHC5 SALL1 CCDC8 PTPN11 CDT1 UBE2A CTC1 SMS SPECC1L PITX2 PEX3 NOTCH2 TMEM70 DCHS1 FZD2 RPS15A RAD51 SMC3 EFEMP2 DKC1 PEX14 CHRNG HCCS FGFR2 PCNT TMEM216 TERC SIN3A SIX6 TTC37 LETM1 TMEM94 FANCD2 COMT WNT3 RLIM MKKS NR5A1 POLR3A WNT7A MESP2 RPL11 TTC8 CDC45 BNC2 RPS19 FDFT1 GPC4 CHRM3 MED25 SSR4 RPL10 TCTN2 SYNGAP1 ERMARD COLEC10 ZFPM2 ZEB2 PQBP1 ATP6AP2 PEX10 DHX37 RPS10 COLEC11 PSMD12 KCNAB2 PAX6 POLE RIPPLY2 HBA1 DYNC2LI1 ERCC4 NR0B1 BRAF EFNB1 VAMP7 SRY FGFR1 EVC2 DLL3 NSUN2 NPM1 SOX9 COL7A1 CDC42 RPS24 OBSL1 ALG12 KLHL40 NSD1 RPS28 FANCC KMT2D RPL18 HLA-B BMP4 PRKAR1A MTOR SOX2 ELN GABRD CYP17A1 MMP1 FREM2 NEB IFT80 NOP10 COG1 LAMA3 CUL7 IGF2 UBE2T EPG5 RPL5 RAF1 MECP2 MAD2L2 CLMP TERT RAD21 PPP1R12A RERE FANCB POLA1 RSPO1 MTM1 PEX11B HOXA13 HNF1B KDM6A PIGN HSD17B3 UFD1 B9D2 ARID1B MAPRE2 SLX4 MID1 CYB5A KDM3B PIEZO2 FOXC1 AR ACTA1 HYLS1 GTF2IRD1 RPL35A LRIG2 NAA10 RREB1 SMCHD1 ZMPSTE24 POR ESCO2 RPL35 RPL15 RFC2 PALB2 RPL31 CYP21A2 HIRA ZIC3 PEX1 TUBB B9D1 ORC4 DYRK1A ATR ORC6 KDM5B HSD3B2 FANCI ZMIZ1 MED12 GATA1 RPL26 BDNF MED12L RAD51C DVL3 TMEM63A LMOD3 FAT4 SKI MCTP2 EHMT1 SETD2 FANCE SMAD4 DVL1 FGFR3 COL3A1 WRAP53 GRIP1 CEP290 NHP2 JMJD1C CDCA7 KLHL41 STAR IKZF1 GMNN RPL27 TAPT1 NIPBL PEX12 LAMB3 LSS MAB21L2 TMEM231 UBA1 ATPAF2 DNAJC19 PEX19 RPS17 CUL4B OGT BRIP1 CILK1 USB1 CC2D2A SAMD9 MYMK BUB1B SUFU FIG4 APC2 SRD5A2 ARL6IP6 NKX2-1 PRDM16 FBXL4 RPS7 KMT2A PARN TFAP2A PNPLA6 PEX16 ADAT3 FERMT1 DYNC2I1 FANCF TINF2 ITGB4 HMGA2 ARX HUWE1 CTBP1 ARVCF BRCA2 DACT1 HOXD13 WDPCP FGFRL1 CHRNA3 RPS26 TMEM67 MAP3K7 ISL1 RPGRIP1L CSPP1 AFF4 RPS29 BAZ1B PUF60 FANCL PLAG1 RFWD3 FANCG RTTN FANCA ORC1 LFNG ITGA6 RPS27 RIN2 PLEC GATAD2B HNF4A NR2F2 WWOX HP_URETHRAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_OBSTRUCTION CHRM3 CLIP2 TINF2 SRCAP TBL2 ITGB4 NPM1 BNC2 HPSE2 COL7A1 LAMB3 TERC DACT1 NSD1 MKKS RTEL1 ELN MAP3K7 MLXIPL LAMC2 CDC45 FLT4 TERT USB1 BAZ1B LIMK1 FLNA SETD2 MMP1 SALL1 GTF2IRD1 APC2 NOP10 GTF2I LAMA3 IGF2 LRIG2 CTC1 RFC2 WRAP53 PARN ITGA6 NHP2 TP63 RIN2 PLEC DKC1 TBX1 FERMT1 POLA1 HP_OLIGOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSPERMIA NR5A1 SUN5 NR3C1 DNAH17 TSPY1 CATSPER2 CATSPER1 ANTXR1 CFTR ALMS1 ADGRG2 NR0B1 CFAP70 DDX3Y CNBP LHCGR ARMC2 PMFBP1 TDRD9 STRC RBMY1A1 DZIP1 TEX15 BLM M1AP DAZ3 DAZ4 CFAP65 DAZ2 USP9Y DAZ1 POC1A FSHB CEP19 HP_RENAL_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_STEATOSIS APOE PCK2 LDLRAP1 LDLR ABCG8 APOB PCK1 PCSK9 SIX1 ABCG5 EYA1 HP_CYSTIC_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_RENAL_DYSPLASIA CPT2 TBC1D24 JAM3 BMPER NEK8 TBX18 BICC1 HP_IMPOTENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPOTENCE ATXN8OS TRAF7 DMPK CDKN1B TERT SPRY4 CDKN1A HS6ST1 AIP NF2 GPR101 SMARCE1 TTR LMNB1 WDR11 PDGFB DUSP6 MEN1 FGF8 CDKN2C CDH23 SACS HFE FMR1 FGFR1 HEXB NSMF SLC40A1 AKT1 KISS1R CDKN2B HAMP CHD7 ANOS1 ABCD1 PROKR2 CACNA1G BAP1 GNRH1 GUCY1A1 SUFU TAC3 BMP2 FGF17 PIK3CA HJV PROK2 COQ2 TFR2 SMARCB1 TACR3 KISS1 GNRHR SMO HP_RENAL_CORTICAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_CYSTS CDKN1C CD96 ETFA KIAA0586 PIGQ ETFDH IGF2 CEP290 LIPT2 ETFB KCNQ1 KCNQ1OT1 NEK8 PEX1 INVS CSPP1 TTC37 PEX2 HP_ENURESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS SLC5A2 FAM20A CLCNKB SLC25A13 HPSE2 LRIG2 FA2H SLC12A3 DLG3 UMOD AGXT ELN NPHP3 MLXIPL AQP2 BNC2 RNF168 AVPR2 KCNJ10 DPH1 FOXP1 HP_GLANDULAR_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLANDULAR_HYPOSPADIAS MTM1 MYMK MKKS HOXA13 MAMLD1 HP_PENOSCROTAL_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENOSCROTAL_HYPOSPADIAS MTM1 NR5A1 CDH11 SRY MAMLD1 COLEC10 HP_ABNORMAL_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EXTERNAL_GENITALIA WDR35 RHO CLIP2 CCDC174 NFIX WT1 CDH11 SOX4 HES7 AMH YY1 EVC SUZ12 HHAT BRCA1 KCNA1 PROKR2 GPC6 FMR1 PEX6 PHACTR1 ARCN1 KANSL1 CEP55 SAG SOX10 IL17RD STAT4 SIK1 MAGEL2 AKT1 SLC25A10 TBC1D20 FEZF1 GLI3 RAC1 SNRPN SLC29A3 IL23R GDF1 DHH TSPYL1 NSD2 DHCR7 HYMAI ACTL6A RNU4ATAC MECP2 ARX WDR37 KIF7 GLI1 B3GALNT2 TMEM107 FGF10 PDE4D BRF1 DHODH LHX4 DGCR8 BRCC3 AHI1 PROP1 XRCC2 FAM111A GPC3 PEX5 PEX26 GFM2 SOS1 GP1BB LMX1B NELFA DYNC2I2 CARS1 LAMC2 FLT4 BRAF ERCC8 MAP3K1 GRIA3 MBTPS2 SCN1B CCDC8 PCARE PTPN11 NNT CKAP2L GMNN ATAD3A ODC1 EWSR1 TMEM70 NPAP1 RAD51 DVL3 SMC3 DKC1 SNORD116-1 CHD7 ATRX CENPT NR5A1 DHX37 AIP POMK HSPG2 SIN3A BBS5 SIX6 SEMA3A TTC37 NR0B1 GBA2 CDC73 TMEM216 KMT2E FANCD2 RLIM MKKS CDK8 DLX4 MKRN3 WNT7A FDFT1 POLD1 SMCHD1 RGR B9D1 IMPDH1 DIS3L2 BUB3 SYNGAP1 PIGS ZFPM2 DLL1 RPL10 TWIST2 RAB23 PEX2 RIT1 KCNH1 B4GAT1 DYNC2LI1 TRAIP ZBTB20 B3GLCT PPP1CB GLI2 LZTFL1 EFNB1 NONO IL1RAPL1 HESX1 GTF2H5 UBE3B RBM10 NSUN2 ERAP1 MYL2 COL7A1 OCA2 HS6ST1 IFT172 HDAC8 H19 AGBL5 NSD1 POMGNT1 AR TBX1 KMT2D ATP6V1E1 PSMD12 ARID1A OPHN1 DAZ1 PRKAR1A DYNC2I1 ZEB2 SDHB RNF113A NECTIN1 MEFV NPHP1 HLA-B FGFR2 IFT80 DAG1 NOP10 OCRL HNRNPK NRAS DCHS1 RPL5 IFT27 DPAGT1 SLC35D1 IGF2 CA4 ERCC4 HCCS MAD2L2 WDFY3 PPP1R12A FRAS1 RERE TMCO1 RTL1 ALOX12B COLEC10 PQBP1 DOK7 SNRNP200 HOXA13 MKS1 RRAS2 FGF17 CD96 KMT5B PIGN UFD1 B9D2 LHCGR TRMT1 SEC23B ANKRD11 PLAGL1 KDM3B CYP11B1 TNXB MED13 GTF2IRD1 RPL35A ESS2 ESCO2 UBR1 PALB2 TP53 ANK1 PDE6D LIG4 ZIC3 CRPPA NALCN SEMA3E MAP2K2 EZH2 INPP5E DYRK1A ERCC2 LIPE ADAR ATR LRAT PRKDC ZMIZ1 GATA1 DSP KDM6B SDHD STAG1 SOX2 INSR DCX ABCD4 CDH2 PTRH2 POLE BBS2 DICER1 SETD2 CAVIN1 RARB KDSR KDM5C FGFR3 IL12A-AS1 LMNA GRIP1 TPM2 TBX3 INPP5K RYR1 JMJD1C CBL FXR1 IKZF1 UQCC2 RPL27 ZIC2 CYP19A1 ERCC3 PITX2 FANCA LAMB3 UBA1 MAB21L2 NDP KRAS CYP17A1 FGF8 GATA6 DNAJC19 ARNT2 USB1 SOX9 NDN SUFU HPRT1 NKX2-6 NIPBL HERC1 ARL6IP6 POR CCBE1 PIEZO2 HACD1 RPS7 LONP1 TFAP2A CLCN4 ORC6 BLM TINF2 REEP6 DMPK HMGA2 GJA1 MYH3 TAF6 COX7B MED13L KDM1A STS RNASEH2A DACT1 WDPCP CDKN1C TCOF1 FLI1 ISL1 DAZ3 RPGRIP1L AFF4 STAC3 TALDO1 CDC45 MRAP SLC18A3 ESR2 ROM1 FANCL PHF6 SALL1 STRA6 EVC2 EBP OTX2 ORC1 MYLK ITGA6 RIN2 GATAD2B PSAT1 FARS2 KLHL15 TBL1XR1 ABL1 VEGFC SCYL2 KIAA1109 EYS SLX4 TSR2 CHST14 RPGRIP1 ACTA1 RPGR PDE6B MLXIPL LARGE1 ANKLE2 HFE FGFR1 ALX4 CPLX1 TBC1D24 ATP6V1A NEXMIF SETBP1 USF3 NDUFB11 RSPO2 AMHR2 FANCC AP1S2 DMRT3 IRF6 SRCAP TP63 INSL3 AUTS2 WNT4 LHX1 SLC25A22 ALKBH8 SMC1A CDC6 DYNC2H1 GATA5 CREBBP ATP6V1B2 UPF3B COL3A1 SHOC2 DHCR24 PWAR1 CDON C2CD3 WASHC5 SPECC1L MTM1 PNPLA6 GJC2 IL12A TDRD9 UBE2A CTC1 ARL6 MCM8 BIN1 RNASEH2C PEX3 PROK2 CDKL5 MBD5 MAB21L1 IFIH1 POMT2 CHRNG RECQL4 SPRY4 PCNT POLR1C EIF2S3 KIAA1549 DPF2 SRY PMM2 TACR3 TMEM94 LETM1 POLR3A FLNA ALG8 BNC2 COL4A1 GPC4 KISS1R TRIM32 PIEZO1 CBX2 ATP6AP2 CTCF TTC8 RIPPLY2 DMXL2 KATNIP ANOS1 DGCR2 VAMP7 GNRHR NSMF KEAP1 CXCR4 KAT6A FGD1 SRA1 CDC42 PAFAH1B1 USP7 ALG12 KLHL40 BRWD3 STT3B DPM2 MED12 GJB4 GALT MTOR FOXA2 PBX1 HGSNAT STXBP1 NDNF UBE2T MCM5 CCNQ PHF21A ERCC6 TERT ABCA4 ACTG2 PACS1 FANCB FKRP RAB18 WFS1 AEBP1 HNF1B FLNB PPP1R15B CEP120 ATP6V0A2 KDM6A RASA2 ARID1B MID1 RXYLT1 CYB5A RAB3GAP2 TSPY1 B4GALT7 NOTCH3 MEGF8 BMPR1A IL10 BBS10 RREB1 TANC2 CPLANE1 CCDC22 RPL35 KIZ SETD5 RPL31 HIRA POMT1 PEX1 PHGDH NRXN1 FANCI TRIP4 DSE ATN1 CRX RAF1 PAX6 PACS2 BDNF TMEM63A LMOD3 PROM1 GLE1 NUP88 DVL1 GAD1 THOC2 FANCM MYOD1 BBS7 DNM2 AKR1C4 OFD1 PTEN MASP1 MDM2 GRIA2 CCDC141 DLK1 CHD4 PDE6G CRB1 CTDP1 TAPT1 CEP152 SIL1 MYRF STAR LEP PRCD ATPAF2 NXN PIGP PEX19 VPS35L BBS1 BRIP1 CILK1 TULP1 SAMD9 SLC39A4 MEG3 FBXL4 KMT2A BBS4 ZMPSTE24 EXT2 TCTN3 PRPH2 BBS12 PRRX1 RAB3GAP1 ARL3 HUWE1 GUCA1B DMRT1 NEK1 CTBP1 BRCA2 PWRN1 CHRNA3 RPS26 ELN PRPF6 CSPP1 TDGF1 TEX11 BCORL1 DUSP6 CFTR FOXH1 LZTR1 RFWD3 RTTN TEX14 SRD5A2 RPS27 PLEC MAPRE2 HNF4A WWOX CYP11A1 FDXR WNT5A AGA GNRH1 PRMT7 MAP3K7 SIX3 XPC DDB2 RTEL1 TEX15 PSPH PIGQ NEDD4L IFT140 DISP1 ROBO1 TBX15 PLD1 KIFBP ADA2 THOC6 LMOD1 CDT1 MYF6 SEC23A C8orf37 KIAA0586 HPSE2 BSCL2 NODAL EP300 POU3F3 ALDH18A1 RP1 ROR2 INPPL1 MECOM LHB TBL2 RBMX SLC19A2 ITGA7 WDR11 GAS1 MUSK TCF4 HERC2 UBAC2 RAD51C ACTB ERCC1 VAC14 LIMK1 ZNF513 SMARCA2 DCAF17 FTO SMS PAX7 SOX18 C4A RPS15A EFEMP2 PYCR1 WRN SHH MAMLD1 DCC NEK2 PIGA TGDS ATIC COMT HRAS IFT88 SNORD115-1 MADD CCR1 RPL11 RPS19 MED25 STT3A NAA10 PTCH1 PEX11B TCTN2 SMARCD1 PEX10 BBS9 RPS10 MAP2K1 HSD17B3 DLL3 ZSWIM6 WNT3 KCNQ1OT1 USH2A SLC25A24 OBSL1 ARHGEF18 CLIC2 TXNRD2 RPS28 TNFRSF1A RRAS GJB6 BMP4 KAT6B FOS GATA4 SC5D CUL7 EPG5 SMARCC2 RBP3 PLVAP EMG1 POC1A POLA1 FKTN STK11 SLC7A14 PTDSS1 TOPORS DGCR6 FZD2 CDKN1B MTMR14 SEMA4A MYT1L IDH3A MAPK1 AXL ACTL6B RIPK4 PIK3CA GJA5 GNAS FOXC1 ASH1L INTU FAS FAM149B1 DNAJC21 AKR1C2 DHDDS PDE6A TRRAP KLLN RPL15 RFC2 CYP21A2 TUBB XYLT2 ORC4 SOX3 KLHL7 GPR161 KCNJ6 HSD3B2 DDX6 KIAA0753 POLG SMARCE1 FREM2 GHR MCTP2 EHMT1 FANCE FBN1 SMAD4 NEUROD2 NKX2-5 MAF DDX3Y MYH11 GK CTU2 CEP290 MRPS28 CDCA7 AHR MAK PHIP LSS TWIST1 CUL4B TMEM231 BCOR HYLS1 FSHB OGT TRIM8 PORCN DAZ2 ALOXE3 ERCC5 CC2D2A NR3C1 SOX11 MYMK DHX38 SVBP TOE1 TREX1 CCDC28B SLC26A2 RLBP1 CNGA1 NKX2-1 NR2E3 PRDM16 PEX16 CEP57 SDHC AGPAT2 TARS1 ADAT3 FANCF SATB2 ITGB4 TPM3 NF1 IDH3B ARVCF IER3IP1 NHP2 BEST1 ATM PRPF31 ZBTB16 CASK MERTK ADAMTS3 BAZ1B KLRC4 PUF60 KCNQ1 SDCCAG8 PRPF8 POLR1D LFNG POMGNT2 TRAPPC4 KISS1 RNASEH2B PPARG RAC3 BUB1B FBLN1 NANOS1 ARID2 FARSB SAMHD1 PHF8 SKI RP2 PRPF4 GMPPB HIBCH MAP3K20 FBXW11 SEC24C UPB1 NRL GTF2I FBLN5 HBA2 TBX22 PTCH2 ARL2BP SOS2 OTUD6B DOCK3 CLRN1 PEX13 RBBP8 MNX1 SYNE1 XRCC4 CNTNAP2 MPLKIP NTNG1 TCF20 NFIB RP9 NOTCH2 MRAS FSCN2 MC2R DAZ4 FUZ PEX14 LMBR1 CDKN2A TERC CERKL DNMT3A COG5 EED MESP2 CHRM3 SSR4 GDF6 ERMARD BBIP1 SCN2A KCNN3 COLEC11 KCNAB2 TAC3 HBA1 SMO ACTA2 GJB3 GNAO1 NPM1 FERMT1 SOHLH1 MEIOB RPS24 RPE65 CDHR1 RPL18 USP9Y ZDHHC9 GABRD MMP1 NEB ZNF408 TRIP13 COG1 LAMA3 SYCE1 RAPSN ADARB1 GJB2 CLMP YWHAE RAD21 SMARCB1 PIK3C2A RNF135 RSPO1 ZMYND15 ALMS1 CNGB1 RBMY1A1 POU1F1 SGPL1 BUB1 GTF2E2 SCAPER LRIG2 VPS13B TBCE TBCK RP1L1 GSC PNKP NKAP TGIF1 KDM5B JAM3 A2ML1 SYCP3 GPR101 RPL26 SIM1 SMARCA4 MED12L CHUK FAT4 XPA ANAPC1 IFT81 SELENON IMPG2 WRAP53 SMOC1 KLHL10 IRX5 KLHL41 ECEL1 JAG1 VANGL1 PEX12 SPATA7 PRPF3 RPS17 RDH12 CAV1 LAS1L FIG4 APC2 TAF4B PARN BMP2 CLP1 TLR4 BPTF HOXD13 TUB FGFRL1 G6PC3 TMEM67 FAM161A SETD1A ADNP CHEK2 RPS29 TBX4 FLRT3 TASP1 CEP41 PLAG1 FANCG LEPR EBF3 RORA CITED2 NR2F2 ECE1 HP_ABNORMAL_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_GENITALIA RAD51D RAD51C WDR35 CLIP2 SALL4 WT1 MSH6 UBR1 CYP11A1 ANOS1 PPARG HES7 IL10RB BUB1B AMH FSHR FOXL2 NPHP1 CXCR4 C11orf95 PRKAR1A LARS2 TBX1 SPINT2 SF3B4 RAD51 CDH1 BRCA1 PMS2 TRAF3IP1 SLC6A17 BCOR KRAS RTEL1 PROKR2 IFT27 AKT1 NUP107 FREM1 NR5A1 CYP11B1 ZFPM2 GATA3 TGFBR1 IL17RD CPLX1 KIF14 HDAC8 SEC24C CDH23 PSMB8 COX7B PTEN ITGA8 DHH MLH1 GTF2I DLC1 NSD2 TSC2 DHCR7 SETBP1 USF3 NDUFB11 FANCM RNASEL MSX1 THOC6 RSPO2 MRPS22 POLD1 PRKCD APC AMHR2 BSCL2 PALLD EVC SEMA3E GLI1 AR PHKA2 DMRT3 EPCAM FRAS1 JAK3 MLH3 IRF6 B3GLCT LHB SRCAP TBL2 KLF6 FGF20 AURKA STAG3 RELA XRCC2 GP1BB WDR11 SMC1A CCNQ POR GATA4 HESX1 RIPK4 PHF6 EIF2B2 DYNC2H1 MEN1 DYNC2I2 COL3A1 PHKG2 DYNC2LI1 FGF8 IDH2 EIF2B3 C8orf37 MAP3K1 LIMK1 TP63 SPECC1L MPLKIP RASGRP1 CEP290 HGD SALL1 AIRE CORIN PTPN11 DCAF17 MSH2 INTU MNX1 CDKN1C CTC1 ARL6 MCM8 BARD1 EWSR1 COL5A1 KISS1R BLM PROK2 EPHB2 FLT1 SMC3 TRAF3IP2 KIF7 POF1B DKC1 WRN BMPR1A F7 HCCS SPRY4 NIN NBN PDGFRL MAMLD1 BNC1 PSMC3IP DHX37 DCC TWNK RECQL4 POLR1C BRIP1 CDKN2A TERC SRY RBM8A PMM2 SEMA3A CDC73 FANCD2 COMT WNT3 LETM1 MKKS WNT7A FIGLA ANAPC1 MESP2 FMR1 KISS1 FGFR1 MCM3AP USP8 BRCA2 BUB3 TRIM32 BBIP1 MYC ZEB2 CBX2 CFTR BBS9 PRTN3 FH PAX6 TAC3 RIPPLY2 TRAIP FGF17 PTCH1 ERCC4 ERCC2 IQCB1 DICER1 NR0B1 TACR3 VAMP7 GNRHR DLL3 NSMF SOHLH1 SETD2 GTF2H5 MCC KEAP1 NPM1 SOX9 INVS RNF43 LMNA BMP15 ARHGAP31 IFT172 CHEK2 RCBTB1 NOBOX HLA-DPA1 ADGRG2 IL17F FANCC HARS2 WNT10A WDR19 HSD17B4 STOX1 CTLA4 PPP2R1A BMP4 IDH1 GALT SDHB ELN FOS CYP17A1 FREM2 IFT80 TRIP13 NOP10 STRA6 WNT4 CTNNB1 NDNF UBE2T PTPN22 B4GALNT1 PLA2G2A RAD54B MAD2L2 SDCCAG8 PLG TTC8 PTPN12 PAX3 SMAD4 RAD21 PPP1R12A MRE11 MTM1 STK11 TBX3 GLI3 PALB2 EIF2B1 WDPCP AXIN2 RNF113A PIK3CA LZTFL1 HOXA13 HNF1B MKS1 ALMS1 DUSP6 CDKN1B FAS TP53 COL5A2 HFM1 PIGN UFD1 ARID1B SLX4 ESR1 SEC23B PLIN1 PTPRJ BUB1 FEZF1 TERT BBS1 FANCB STAT6 GREM1 GNAS TNXB FAN1 GTF2E2 HYLS1 GTF2IRD1 TBX6 BBS10 TSC1 COL1A1 LMNB2 RREB1 ESCO2 KLLN RFC2 SMAD3 HIRA POLR3H RPS6KA3 SPIDR SOX3 LIPE HSD3B2 NTHL1 FANCI POLG LRP2 ALG9 CASP10 FLI1 CEP164 SETD5 BTK SDHD SUFU RET FGFR2 INSR CYB5A BAX AXIN1 CYP19A1 TTI2 ERCC6 FGFR3 VHL BBS7 SRC FANCE CHD7 CAVIN1 PHGDH RARB RIN2 CLEC7A WRAP53 GRIP1 MDM2 NPHP3 HS6ST1 NHP2 JMJD1C MT-CYB PTCH2 CCDC141 BMPR1B RAD50 FASLG CHRM3 POLE ATM GNRH1 ERCC3 MYRF TGFBR2 NDP LEP CC2D2A EIF2B4 MMP2 GREB1L USB1 IGF2 AKT2 CAV1 TOE1 CIDEC FLCN IL17RC CCDC28B SRD5A2 EIF2B5 BBS5 NIPBL GALK1 KMT2A PARN BBS4 PRLR ZMPSTE24 LONP1 CEP57 SDHC AGPAT2 TARS1 ERAL1 NKX3-2 UNG DYNC2I1 FANCF COL4A6 NRAS TCTN3 FSHB CCND1 BBS12 TINF2 AARS2 MMP14 DMPK IL17RA MSH3 DMRT1 EP300 CTBP1 ARVCF PMS1 DACT1 HOXD13 AIP SOX10 FGFRL1 COL7A1 CREBBP MXI1 NPHP4 COL4A5 DIAPH2 HNF1A TCOF1 BAZ1B FLRT3 ZFHX3 FANCL RPS20 PRKN KCNQ1 KCNQ1OT1 ANTXR2 HLA-DPB1 EVC2 RFWD3 FANCG POLR1D CLPP NAB2 FANCA RXYLT1 LFNG LEPR TLR2 SEMA4A OPCML OFD1 MAD1L1 HNF4A NR2F2 BBS2 WWOX HP_BICORNUATE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORNUATE_UTERUS FANCB RARB SPECC1L TNXB SRY FREM2 FANCL FANCI FANCE STRA6 HOXA13 LARS2 HNF1B LRP2 DHCR7 SF3B4 ALG9 FANCM XRCC2 UBE2T RFWD3 CCNQ MNX1 BRCA1 BRCA2 FANCG ITGA8 ESCO2 FANCA FANCD2 PALB2 MAD2L2 PIGN GRIP1 FANCC RAD51C ERCC4 SLX4 RAD51 BRIP1 FRAS1 HNF4A FANCF SETBP1 HP_HYPERGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGONADOTROPIC_HYPOGONADISM GALT CTDP1 PMM2 WT1 BRCC3 DMPK LMNA POLA1 SOX9 CYP19A1 TWNK FANCE NR5A1 BMP15 FANCA POLG COQ2 ALMS1 GATA4 LEP LHCGR CYP17A1 LEPR GNAS CYB5A RRM2B SLC29A3 POLR3B SAMD9 POLR1C FANCD2 DHH ZFPM2 SRY MGME1 ITGB6 DCAF17 GALK1 CLPP RIN2 DHX37 FANCB FANCC AMACR ZBTB20 LSS SIL1 AHSG SCP2 NR0B1 MAP3K1 BMPR1B VAMP7 DMRT3 POLR3A WWOX MRE11 TYMP HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM MT-ND4 MT-ND6 FH MMAB MMACHC MT-TW MT-TL1 MT-ND3 MMAA OGDH MT-ATP6 MT-ND1 MT-TV MMADHC MT-TK MT-ND2 PRDX1 FXN MT-ND5 HP_POOR_EYE_CONTACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_EYE_CONTACT NDUFA11 CDKL5 NDUFS4 NDUFB9 PUF60 KCNT1 NDUFAF1 FOXG1 TWNK GALNT2 NEXMIF NDUFAF4 GFM2 SLC25A1 GFM1 NDUFS7 DOCK7 DEAF1 SHANK3 MEG3 MEF2C TIMMDC1 NDUFAF2 GABBR2 NDUFV1 FOXRED1 SPATA5 NDUFS6 MECP2 GPHN SMC1A NDUFA13 AGTPBP1 FMR1 SMG9 SLC25A12 NTRK2 TBC1D23 NDUFAF3 NEUROD2 NDUFA1 TMEM126B NTNG1 UBA5 MT-ND3 ALG13 NDUFAF5 OPHN1 NDUFS1 FRMPD4 FLCN NDUFS8 GRIA3 RTL1 MICOS13 IREB2 SYT1 NDUFS3 CUX2 NDUFAF8 GRIN1 NDUFB11 NDUFB3 NDUFB10 STXBP1 GABRA2 MT-ND2 CACNA2D2 NDUFA6 UGP2 GNB5 ST3GAL3 AP3B2 NUBPL ARFGEF2 NALCN PIGP MT-ND1 NDUFV2 DLK1 RARS1 ADSL COX10 RAB11B NDUFS2 CLP1 HP_ABNORMALITY_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYROID_GLAND RNASEH2B STAT1 KDM6A CLIP2 NODAL UBR1 SUGCT CDKN1A WFS1 BUB1B FOXE1 PROP1 TPO CTNS PRKAR1A HESX1 TBX1 SMARCE1 PMS2 LHX4 SLC6A17 BCOR TTC37 FANCI KRAS SIX3 TRMT10A SAMHD1 BTNL2 DISP1 ACP5 DUOX2 MT-ND1 MLXIPL DMXL2 BCL10 DICER1 KANSL1 MAGEL2 AKT1 ALX4 SEC24C CTNNB1 SNRPN ROBO1 CDH23 TBC1D24 GTF2I SETBP1 NSDHL PTEN USF3 HFE IL18BP MSTO1 NDN MT-CO1 PRKCD MSH6 IYD TANGO2 PDE4D CDC73 SMC1A SMARCB1 EPCAM FDX2 ABCB4 TSC1 SHH MLH3 CHD7 TBL2 MT-ND5 DEAF1 NPHS1 GABRA3 RAG2 GP1BB TSHR GAS1 HYMAI POU2AF1 FUCA1 ZFP57 GNE NRTN MEN1 PPP1R15B NKX2-1 MT-ND6 RMRP CDON SKIV2L ADA IDH2 POLG2 LIMK1 XRCC4 RET APC PTCH1 NLRP1 DLL1 RASGRP1 GRM7 SALL1 AIRE HLA-DRB1 MT-TL1 GATA1 KCNJ18 NNT ENPP1 EDN3 GLI2 MCM8 MSH3 STEAP3 RNASEH2C MALT1 ALMS1 MC2R YY1 SLC5A5 ZIC2 IFIH1 WRN TREX1 NKX2-5 BMPR1A TDGF1 TRAF7 NIN SEC23B POLR1C CDKN2A KCNJ10 TGIF1 FOXI1 EIF2AK3 SPIB COMT FUT8 RAG1 MINPP1 ALG8 GNAS ANAPC1 MADD MMEL1 MT-TF C1QBP STAT3 TWNK MT-TL2 KAT6B GLIS3 IFNG BUB3 FLCN CDKN2B MT-CO3 PIEZO1 ABCB11 GDNF SEMA3C KCNAB2 FGF8 SUFU POLR3A SLC16A2 KATNIP ZBTB20 DCAF17 B3GLCT TG HSD17B3 CACNA1S FMR1 IL12RB1 SRY TRHR KEAP1 DNAH1 EXOSC2 DDOST NF2 OCA2 RCBTB1 NSD1 LEPR TXNRD2 EDNRB LHX3 PAX8 JAK1 SLC26A4 BMP4 IDH1 HABP2 SDHB CLPB ELN LIFR IRF5 TNPO3 GABRD FOXA2 SLC12A3 SPOP MT-TW KISS1R FGFR1 TRIP13 APOE ABCC8 FOXD3 BRAF HNRNPK PLAGL1 SRGAP1 PHF21A MT-ND4 IGF2 PLVAP CASR TRAPPC9 TCF4 PCSK1 PIK3C2A RERE FOXP3 FOXP1 DNM1L GLI3 IL7R TSHB TONSL NR1H4 NRAS CDKN1B HBB FAS USP9X DUOXA2 UFD1 FLII DCLRE1C POU1F1 SGPL1 PIK3CA BUB1 FARSA RAI1 GREM1 THRA ITCH FAN1 SRD5A3 GTF2IRD1 MARS1 IGSF1 RREB1 SOX3 KLLN RFC2 TBCK TP53 IL2RG RBM28 HIRA LIG4 BAP1 MT-TS2 SEMA3E CTLA4 ADAMTSL1 ADAR THRB PMM2 GPR161 EYA1 CASP10 GCH1 PDGFB CLCNKB LRP4 HPD SDHD STAG2 SIM1 ZFAT KMT2D INSR C1S PTRH2 POU3F4 SKI STAT5B TNFSF15 SETD2 HRAS IQSEC2 TBX2 MT-TH MDM2 JMJD1C SCN4A MSH2 FOXH1 FASLG SMO SAA1 MST1 IL12A TERT TBL1X TGFBR2 STAR ATRX LEP CDKN2C GPC1 MMP2 TRH CACNA1C RRM2B STUB1 JAG1 SEMA3D PLAA APC2 SVBP MT-TQ ARL6IP6 CCBE1 ABCC6 PRDM16 LRBA IL2RA CEP57 MLH1 SDHC EXT2 TTC7A TMEM67 GPR35 MDM4 ADAT3 WDR4 WDR11 POLG MMP14 DMPK HMGA2 PLCG2 RNASEH2A MT-TN ARVCF PMS1 DACT1 GATA6 AIP KCNJ11 HNF1B ADA2 DYRK1A AFF4 CHEK2 OPA1 SIX1 TCOF1 BAZ1B ATP8B1 MRAP ECE1 DNAJC19 TF IRS4 LMNA RPS20 PLAG1 POMC POLR1D CDKN1C SASH1 MTTP PROKR2 TSC2 OTX2 SEMA4A BIRC3 MT-CO2 HNF4A ARNT2 SLC25A4 HP_DELAYED_PUBERTY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_PUBERTY BNC1 STAT1 SLC37A4 SMPD1 CYP11A1 TBX3 ANOS1 NUP107 WFS1 FSHR PROP1 NR5A1 HESX1 PPP1R15B ALMS1 GBA DUSP6 LHX4 FGF17 TRMT10A USP9X PROKR2 FLII CDH23 POLR3A CTNS POU1F1 IL17RD FEZF1 MAGEL2 RAI1 TAF13 ALX4 OCRL NSMF HDAC8 CTNNB1 SNRPN ROBO1 SLC29A3 IGFALS VPS13B MRPS22 SLC25A13 NDN RBM28 TGFB1 SEMA3E POLR3H SPIDR PHKA2 DMRT3 WT1 GPR161 BRCC3 ALDOA HSD3B2 G6PC DEAF1 TRIP4 WDR11 SMC1A GATA4 SETD5 PHF6 CLCNKB CHD7 MEN1 GHR MAP3K7 ENTPD1 HERC2 CARS1 CYB5A PTRH2 PHKG2 GHSR FGF8 PWAR1 CDON STAT5B RAB18 RAB3GAP2 POLR3B SALL1 MSMO1 PGM1 IQSEC2 PTPN11 GLI2 INSR GMNN ATAD3A HS6ST1 NPAP1 LPIN2 PROK2 CCDC141 SMC3 POF1B SNORD116-1 GLA TBC1D20 CENPT SPRY4 PSMC3IP DCC CISD2 ATM GNRH1 EIF2S3 PYGL PUS1 NDP SEMA3A NR0B1 CYP17A1 PNPLA6 MKRN3 SNORD115-1 CUL4B NF1 STUB1 STAT3 FGFR1 HBB KISS1R LAS1L NLRP3 ZFPM2 SRY NIPBL RPL10 POR DHX37 KMT2A TAC3 OCA2 ZMPSTE24 DCAF17 EXT2 TACR3 VAMP7 NONO GNRHR DNM1L FSHB RAB3GAP1 SOX9 FGD1 BMP15 COL7A1 DACT1 PWRN1 AIP SOX10 LEPR NOTCH2 GALT SOX3 FLRT3 FOXA2 SLC12A3 MMP1 LMNA FAM111B BRAF NDNF SCARB2 POMC PHF21A OTX2 YARS2 RAD21 MAP3K1 PCSK1 KISS1 WWOX HP_HYPERINSULINEMIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINSULINEMIC_HYPOGLYCEMIA APPL1 GCK PDX1 ABCC8 HADH KCNJ11 GLUD1 UCP2 CEL TRMT10A NEUROD1 MPI HNF4A SLC16A1 CDKN1B HNF1A INSR INS KLF11 PAX4 MEN1 MAFA BLK HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND TBCE CDKN1A TBX1 PRKAR1A MEN1 PRMT7 PIGT DGCR6 GNAS-AS1 FOXI1 CDKN1B CDC73 STX16 ATP7B HBB CDKN2C KL GNA11 COMT GNAS UFD1 TSC2 CYP27B1 MT-ND1 MT-TF GATA3 LIG4 CASR OCRL SEC24C CDKN2B MT-CO3 MT-TQ PTH ESS2 RREB1 PTEN PDE4D NKX2-1 MT-CO1 HIRA ACTG2 MT-TS2 SEMA3E GCM2 DGCR2 RET NSUN2 DGCR8 MT-ND5 DMPK FAM111A SLC12A1 VDR GP1BB AIRE ARVCF CLCNKB CHD7 COL4A5 HADHB TSC1 MT-ND6 NF1 IDH2 PTH1R IDH1 FLCN SLC12A3 MT-TW MT-TL1 CYP2R1 TBX2 MT-TH MT-ND4 HADHA KCNJ10 IRX5 AP2S1 JMJD1C MT-CO2 SLC26A4 HP_HYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPARATHYROIDISM TBCE NSUN2 DGCR8 MT-ND5 FAM111A TBX1 PIGT DGCR6 GP1BB GCM2 AIRE ARVCF ATP7B HBB COMT COL4A5 HADHB UFD1 MT-ND6 MT-ND1 MT-TF GATA3 PTH1R LIG4 SEC24C MT-TW MT-CO3 MT-TL1 TBX2 MT-TQ PTH ESS2 MT-TH RREB1 MT-ND4 NKX2-1 MT-CO1 HADHA HIRA IRX5 JMJD1C MT-TS2 DGCR2 MT-CO2 HP_INSULIN_RESISTANT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANT_DIABETES_MELLITUS XRCC4 INSR ZMPSTE24 KCNJ11 HYMAI GATA6 STAT3 PPARG ZFP57 EIF2AK3 LEP HNF1A INS CNOT1 KLF11 BSCL2 PAX4 ABCC8 PLIN1 AGPAT2 PLAGL1 APPL1 GCK PDX1 AKT2 LMNA PTF1A CIDEC PIK3R1 NSMCE2 CEL NEUROD1 HNF4A ALMS1 LEPR DCAF17 BLK LIPE HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS VANGL2 PEX11B CYP11A1 APC GLI3 CDKN1A NR5A1 PRKAR1A HESX1 SDHB SCNN1A SMARCE1 MKS1 LMNA KCNJ1 LHX4 HSD11B2 BCOR CDKN1B HBB CYP11B2 BTNL2 ABCD1 EPAS1 CCDC22 CDH23 POR PEX6 KANSL1 CYP11B1 SGPL1 MAGEL2 PRKACA PEX5 GNAS PEX2 OCRL SCNN1G CTNNB1 SNRPN ROBO1 MRAP TBX19 TBC1D24 CDKN1C HYLS1 SDHAF2 ABCC8 FH NSDHL PTEN KCNJ5 ZMPSTE24 CLCNKB NDN TBCK TP53 RBM28 CYP21A2 TXNRD2 MRPS25 PEX13 BAP1 SEMA3E MRPS7 MEN1 PEX1 SDHD PDE8B SMARCB1 DMRT3 RET ARMC5 WT1 GPR161 HSD3B2 KCNE3 NFKB2 PEX26 WNT4 WASHC5 AIRE PDGFB KCNJ10 PEX10 GATA4 BSND HERC2 GATC POLE IDH2 PWAR1 PEX19 CDON TNXB SDHA AKT1 SLC25A11 HLA-DRB1 NF1 NNT STEAP3 GK PEX3 MDM2 SCNN1B NPAP1 SCN4A CLCNKA INSR MC2R PROP1 STAR SNORD116-1 PEX14 SMO SAA1 TRAF7 TERT GMPPA MTHFR PEX12 POLR1C CDKN2A TRAPPC11 NR0B1 CYP17A1 CDKN2C WNT3 KLHL3 MKRN3 SNORD115-1 AAAS VHL TBC1D7 POMC CILK1 PDE11A PCSK1 TMEM127 NR3C1 SAMD9 USP8 ENPP1 IGF2 CDKN2B ZFPM2 SRY CUL3 DHX37 LIPA SUFU OCA2 WNK1 PEX16 GATB VAMP7 NR3C2 TCTN3 WNK4 HSD17B4 WDR11 MAX SOX9 DNMT3A SLC12A1 IARS2 MDH2 NF2 ABCC6 CHD7 SLC26A3 PWRN1 AIP CACNA1D KCNJ11 SDHC CHEK2 QRSL1 DLST BMP4 IDH1 TCOF1 SLC12A3 CACNA1S KCNQ1 KCNQ1OT1 SIX3 ANTXR2 BRAF MCM4 POLR1D PROKR2 HTR1A PIK3CA MAP3K1 WWOX KIF1B HP_ADRENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPOPLASIA TNXB VANGL2 WDR11 WASHC5 GPR161 CYP11A1 GLI3 ROBO1 MTHFR TBX19 ZMPSTE24 CDKN1C HESX1 SIX3 NSDHL LMNA MKS1 LHX4 NR0B1 POLE CCDC22 PROKR2 TBC1D7 POMC PEX1 CILK1 CDON BMP4 HP_HYPERTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTHYROIDISM AKT1 POLG GNAS SEC24C SUGCT CDH23 SLC12A3 TBX1 TSHR HLA-DRB1 THRB FOXP3 GABRA3 KCNJ18 CACNA1S GP1BB PTEN ARVCF RREB1 CLCNKB MSTO1 BTNL2 COMT TBCK POLR3A UFD1 HIRA RRM2B JMJD1C POLG2 SLC25A4 TWNK PIK3CA HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL TEX15 BNC1 WT1 CYP11A1 NUP107 HSD3B2 FSHR XRCC2 POLA1 FOXL2 PSMC3IP SOX9 SYCP3 STAG3 NR5A1 NANOS1 LARS2 SOHLH1 MEIOB GDF9 ZMYND15 SRY GATA4 BMP15 LHCGR CYP17A1 HFM1 AR CBX2 NSMCE2 DHX37 FIGLA FMR1 CYB5A ERCC6 HSD17B4 PPP2R3C ESR2 CDH23 FANCM KISS1R CFTR ZFPM2 TAF4B TDRD9 MRPS22 SYCE1 MCM8 DHH CNBP TEX14 KLHL10 POLR3H NR0B1 SPIDR MAP3K1 TEX11 VAMP7 DMRT3 WWOX ESR1 HP_PITUITARY_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_DWARFISM HESX1 LHX3 LHX4 FOXA2 PROP1 GH1 OTX2 POU1F1 SOX3 GLI2 HP_ADRENOGENITAL_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOGENITAL_SYNDROME CYP11B1 HSD3B2 STAR CYP21A2 CYP17A1 POR HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM CLCNKB NR3C2 SCNN1B SCNN1G SCNN1A SLC26A3 SLC12A1 KCNJ1 HP_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPARATHYROIDISM CASR VDR OCRL DMPK CDKN1B CDKN1A CDKN2B SLC12A1 CDC73 CYP2R1 FOXI1 MEN1 GCM2 CDKN2C GNA11 GNAS KCNJ10 AP2S1 CYP27B1 ACTG2 RET SLC26A4 HP_GROWTH_HORMONE_EXCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GROWTH_HORMONE_EXCESS PRKAR1A GNAS CDKN1B HPGD CDKN1A CDH23 CDKN2B SLCO2A1 AIP MEN1 GPR101 PMM2 CDKN2C HP_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_INSUFFICIENCY PEX11B PEX14 TRAF7 CYP11A1 TERT GLI3 HSD11B2 GMPPA PEX12 NR5A1 SMARCE1 TRAPPC11 STAR BCOR NR0B1 HBB CYP17A1 CYP11B2 ABCD1 PEX19 MKRN3 SNORD115-1 AAAS CDH23 PEX6 POMC KANSL1 CYP11B1 SGPL1 MAGEL2 PEX5 PCSK1 PEX2 NR3C1 SAMD9 NDN PEX26 CTNNB1 SNRPN MRAP TBX19 ABCC8 ZFPM2 SRY RBM28 PEX10 POR DHX37 PEX3 MC2R TBCK SUFU OCA2 TXNRD2 PEX16 MRPS25 PEX13 GATB BAP1 MRPS7 SMARCB1 VAMP7 NR3C2 DMRT3 TCTN3 HSD17B4 WT1 HSD3B2 NFKB2 SOX9 IARS2 NF2 AIRE PDGFB PWRN1 AIP GATA4 MEN1 LIPA KCNJ11 HERC2 GATC QRSL1 PWAR1 AKT1 PEX1 BRAF MCM4 NNT STEAP3 GK SCNN1B NPAP1 PIK3CA PROP1 LHX4 MAP3K1 SNORD116-1 WWOX SMO SAA1 HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM CYP11B2 NR3C2 CYP11B1 SCNN1G CYP11A1 CDKN1B HSD3B2 HSD11B2 CDKN1A CDKN2B CACNA1D SLC12A1 MAGED2 SCNN1A KCNJ5 KCNJ10 SLC26A3 KCNJ1 MEN1 CLCNKB CYP17A1 CDKN2C SCNN1B CASR INSR AVPR2 SLC12A3 HP_INCREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_RENIN_LEVEL CYP11B2 CLCNKB NR3C2 CYP11A1 HSD3B2 SLC12A1 CASR MAGED2 SCNN1G SCNN1A SCNN1B INSR KCNJ10 SLC12A3 KCNJ1 HP_ADRENOCORTICAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ABNORMALITY MEN1 CDKN2C CDKN1B CDKN1A GK PRKAR1A CDKN2B PDE11A PDE8B PRKACA HP_CONGENITAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HYPOTHYROIDISM KDM6A PLAA MRAP THRA TSHR GLIS3 PAX8 TBC1D24 TSHB TONSL NNT FOXE1 STAR GATA6 PDE4D DUOX2 NKX2-1 PRKAR1A TXNRD2 KMT2D ZBTB20 B3GLCT MC2R ADAMTSL1 TRAPPC9 NKX2-5 HP_PSEUDOHYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOPARATHYROIDISM PDE4D STX16 GNAS PRMT7 PRKAR1A GNAS-AS1 HP_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOITER THRB POLG KEAP1 MMP14 FOXE1 CDKN1B SUGCT DNAH1 CDKN1A SEC23B TPO TSHR EYA1 PTEN KCNJ10 RCBTB1 SLC5A5 FOXI1 CDKN2C SDHD DUOXA2 MMP2 MINPP1 RRM2B IYD AKT1 DICER1 SLC26A4 IDH2 PIK3CA POLG2 SIX1 IDH1 TWNK TG HABP2 SDHB GNAS RET DUOX2 CDH23 PAX8 CDKN2B CACNA1S USF3 MEN1 KLLN SASH1 NKX2-1 ALMS1 SDHC SLC25A4 KCNJ18 HP_THYROID_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_ADENOMA CDKN1B AKT1 FAS MSH3 PRKCD RASGRP1 PRKAR1A CASP10 CDC73 PTEN FASLG PIK3CA HP_INSULIN_RESISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANCE INSR PPARG CYP19A1 ALMS1 KCNJ11 PMM2 CAVIN1 STAT3 EIF2AK3 LEP PPP1R3A HNF1A ADCY3 ENPP1 INS KLF11 ABCC8 AKT2 BSCL2 PAX4 PLIN1 PIK3R1 HNF4A POLD1 PLAGL1 CEP19 NEUROD1 GCK SLC2A2 ZFP57 PDX1 RETN DBH CAV1 WFS1 CIDEC CEL HYMAI LMNA ZMPSTE24 DCAF17 TCF7L2 IRS1 AGPAT2 LIPE XRCC4 IRS2 DMPK HSD3B2 IGF1 GATA6 HSD11B1 CLCNKB GPD2 LMNB2 CNOT1 NSMCE2 MAPK8IP1 LIPC APPL1 FOS IL6 SLC12A3 IGFALS PTF1A SLC30A8 MTNR1B HMGA1 IGF2BP2 PTPN1 LEPR HNF1B BLM BLK MFN2 WRN HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS APPL1 GCK ZFP57 PDX1 PTF1A KCNJ11 ABCC8 CEL PLAGL1 HYMAI NEUROD1 HNF4A GATA6 STAT3 EIF2AK3 HNF1A INS CNOT1 KLF11 PAX4 BLK HP_IRREGULAR_MENSTRUATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_MENSTRUATION SETD2 PDE4D NR3C1 GNAS HMGA2 BBS9 CYP17A1 CDH23 PSMB8 FOXL2 AIP PLAG1 LMNA ANTXR1 GPR101 ALMS1 PPARG IGF2 PRKAR1A MEN1 CDKN1C FMR1 CYB5A PHKG2 PHKA2 CYP11B1 ERAL1 ERCC8 HP_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERALDOSTERONISM NR3C2 CYP11B1 OCRL SCNN1G CYP11A1 SLC12A3 SLC12A1 SCNN1A KCNJ5 CYP11B2 KCNJ10 SLC26A3 KCNJ1 CLCNKB CACNA1D CYP17A1 BSND CLCNKA SCNN1B INSR TP53 HP_CENTRAL_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_DIABETES_INSIPIDUS ZIC2 CDON CTNNB1 FGF8 WFS1 PTCH1 SIX3 AVP TGIF1 TDGF1 TP63 SHH DLL1 GAS1 DISP1 BRAF GLI2 FOXH1 NODAL HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS NODAL CYP11A1 ANOS1 PUF60 CDKN1A WFS1 FSHR PROP1 POLA1 FOXL2 ARMC9 NANOS1 PRKAR1A HESX1 DLL1 LARS2 SMARCE1 TMEM231 BRCA1 PMS2 AIP LHX4 FANCI KRAS ERF SIX3 KMT2A DISP1 PROKR2 THOC2 B9D1 NR5A1 KANSL1 CYP11B1 IL17RD MAGEL2 CTNNB1 SNRPN ROBO1 CDH23 PSMB8 CDKN1C ABCC8 GHRHR FANCM NDE1 KATNIP MSTO1 NDN MSH6 GNAS MT-ATP8 SEMA3E MEN1 SMC1A SMARCB1 DMRT3 EPCAM SHH COG2 MLH3 SLC7A7 BRCC3 TMEM67 XRCC2 NFKB2 CC2D2A STAG3 INPP5E GAS1 ADNP RFWD3 GATA4 LHCGR TMEM237 TSHR NKX2-1 HERC2 BICC1 CDON FGF8 IDH2 PWAR1 WASHC5 PTCH1 AKT1 GRM7 TDRD9 DCAF17 AHI1 GLI2 SMARCAL1 MCM8 STEAP3 GMNN PITX2 ALMS1 GPR101 KISS1R NPAP1 PKD2 RAD51 CEP104 YY1 SNORD116-1 ZIC2 SOX3 TEX15 RPGRIP1L TDGF1 TRAF7 GMPPA BNC1 PSMC3IP DCC TP63 EIF2S3 FGFR1 CSPP1 TRAPPC11 SIN3A PMM2 SIX6 TGIF1 SEMA3A FANCD2 TSC2 MKRN3 SNORD115-1 FIGLA FMR1 MADD MARS2 POMC ALX3 TCTN1 USP8 CDKN2B TMEM216 BMP4 ZFPM2 VANGL2 WDR11 DHX37 PRTN3 SUFU POLR3A SLC16A2 POLE B3GLCT SMO ERCC4 NR0B1 VAMP7 SRY NONO NSMF ZSWIM6 APC AAAS PKD1 SOX9 NF2 SOHLH1 MEIOB OCA2 HS6ST1 CEP120 HLA-DPA1 SLC35A2 LEPR KCNJ11 AR CBX2 ACP5 LHX3 FANCC ADGRG1 TACR3 HSD17B4 CTLA4 PIBF1 IDH1 PDGFRB FOXA2 CYP17A1 SRPX2 BRAF IGF2 NDNF UBE2T SYCE1 PTPN22 MAD2L2 EDA GHSR BMPR1A MAP3K1 PCSK1 TMCO1 RRM2B TBX3 HPGD NUP107 GLI3 ZMYND15 FGF17 CDKN1B HFM1 SBDS FLNB SLX4 ERCC6 POU1F1 WT1 FEZF1 FARSA FANCB FOXC1 FAN1 SRD5A3 PDE4D DUOX2 PALB2 CNBP TBCK RBM28 ANK1 RRAS2 BAP1 ZNF148 POLR3H SPIDR TEX11 STAT5B DYRK1A ESR1 MT-TL1 GPR161 HSD3B2 SLCO2A1 SYCP3 TMEM138 FOXH1 GDF9 PDGFB TCTN2 CHD7 STAG2 SIM1 SOX2 ARL13B GH1 RAD51C CYB5A POU3F4 FOXE3 SRP54 GANAB CEP41 OTX2 ADAT3 FANCE BTK TBX2 KLHL10 MSH2 CCDC141 MED12 HYLS1 CPLANE1 VPS13B TERT THRB TBL1X TGFBR2 LEP STX16 IARS2 CDKN2C PNPLA6 GPC1 PREPL MKS1 TRH ARNT2 BRIP1 RNPC3 HBB SLC29A3 DMXL2 TAF4B GAN DNAJC21 POR PRLR MTHFR MLH1 KIAA0586 CEP57 WDR4 FANCF FSHB TBCE DMPK PIK3CA NPHP1 RNF216 SECISBP2 ZNF423 UCP2 EFL1 PMS1 BRCA2 PWRN1 GATA6 SOX10 BMP15 ARL3 AVP NSMCE2 TSC1 TBX19 APOA5 AFF4 PPP2R3C EDA2R FLRT3 ESR2 DUSP6 IRS4 PAX8 SPRY4 FANCL RPS20 CFTR HLA-DPB1 MRPS22 PROK2 PI4KA FANCG FANCA DHH TEX14 SEMA4A CEP290 TP53 WWOX HP_DECREASED_FERTILITY_IN_FEMALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_FEMALES NME8 SPAG1 WT1 ZP2 RSPH1 PGR GAS2L2 RPGR HSD3B2 TTC12 GAS8 CFAP300 FOXL2 SOX9 CYP19A1 DNAH5 TTC25 NR5A1 RSPH4A DNAAF5 CCDC151 AIP ARMC4 DNAL1 GATA4 DNAH11 CYP17A1 MEN1 CCDC40 DNAH9 HYDIN FIGLA CDH23 BSCL2 CYB5A PANX1 CCDC114 TUBB8 AGPAT2 CYP11B1 DNAI2 C11orf80 GALT LRRC56 DNAAF1 CCDC103 BTG4 DNAH1 ZFPM2 ZMYND10 SRY CFAP221 TLE6 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 POR DHX37 CFAP298 LRRC6 DRC1 HUWE1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NR0B1 NEK10 MAP3K1 CCDC65 VAMP7 DNAAF4 DMRT3 BLM DNAAF2 DNAAF3 WWOX TRIP13 HP_SECONDARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_AMENORRHEA BNC1 LHB NUP107 SPRY4 FSHR FOXL2 EIF2B1 PSMC3IP HS6ST1 PAPSS2 LMNA BMP15 LARS2 POLG TBL1X WDR11 RCBTB1 DUSP6 NOBOX PPARG EIF2B2 FGF8 EIF2B4 FIGLA ERCC6 DIAPH2 NR5A1 FGFR1 EIF2B3 GALT TKT NSMF KISS1R PSMD12 CHD7 ANOS1 MRPS22 EIF2B5 PROKR2 GNRH1 TAC3 FGF17 POLR3H PROK2 SPIDR ERAL1 TACR3 BPTF KISS1 GNRHR WRN HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION GNAS TRAF7 CTNNB1 TERT AKT1 CDH23 AIP NF2 MEN1 SMARCE1 BRAF PDGFB PMM2 PRLR MSTO1 BAP1 SUFU POLR3A PIK3CA SMARCB1 SMO HP_PANHYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOPITUITARISM SHH TGIF1 TDGF1 NODAL ZIC2 GLI3 GLI2 CDON FGFR1 STAG2 PTCH1 DLL1 FGF8 GAS1 DISP1 FOXH1 SIX3 MADD GRM7 SOX3 KATNIP PROP1 SMC1A SUFU HP_HASHIMOTO_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HASHIMOTO_THYROIDITIS IL18BP CLCNKB ITCH POLG SLC12A3 SEC23B PLCG2 DCLRE1C C1S ADA2 FOXD3 TTC7A CTLA4 PTEN TBX2 HP_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIABETES_INSIPIDUS VPS33B ZIC2 TREX1 TDGF1 NODAL WFS1 CDON CISD2 STRADA HESX1 FGFR1 DLL1 PRPS1 DISP1 TGIF1 FOXH1 LHX4 PROKR2 PTCH1 SIX3 BTNL2 VIPAS39 ARNT2 GAS1 BBS1 ALX3 SHH OCRL CTNNB1 ROBO1 PTPN22 GLA CCDC28B PTEN PRTN3 AQP2 FGF8 TP63 GLI2 SMC1A AKT1 WDR11 GPR161 SOX3 STAG2 HLA-DPA1 AVP CNOT1 CTLA4 AVPR2 OTX2 HLA-DRB1 BRAF HLA-DPB1 SOX2 ARL6 ALMS1 HP_EPISODIC_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERTENSION RET GDNF KIF1B VHL MAX SDHB TMEM127 SDHD HP_OLIGOMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOMENORRHEA GNAS LHB PLIN1 NR3C1 FOS PPARG USP8 AKT2 CAV1 FANCM CIDEC MSH5 LARS2 CAVIN1 RNF216 PWRN1 H6PD PRLR AIP MAGEL2 BSCL2 HERC2 NPAP1 MKRN3 SNORD115-1 ERCC6 PHKG2 AGPAT2 NDN PHKA2 CISD2 STUB1 SNORD116-1 PWAR1 SNRPN GALT FSHB LIPE HP_11_PAIRS_OF_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_11_PAIRS_OF_RIBS SOX2 ATR B3GALT6 GABRD CEP152 TBC1D24 CENPJ B3GAT3 CHST3 RPS19 FLNB SNRPB NFASC HDAC6 RNU4ATAC SOX9 KCNAB2 PRDM16 LBR TBCK GPX4 RRAS2 DNMT3A TOR1A SKI RERE BMP2 HP_SHORT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STERNUM RBM10 NOG NFIX TMEM231 PCGF2 BUB1B ARID1B NIPBL SETBP1 HP_THIN_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_RIBS MTM1 TBCE TRPV6 MAMLD1 WNT1 LIFR CHRNA1 SCARF2 DNM2 COL11A1 COL1A2 LMNA OBSL1 HDAC6 KLHL40 MTMR14 PPP3CA TENT5A SOX9 MUSK SERPINH1 POLR3A CHRND LMOD3 ORC1 SKI P3H1 ACTA1 NEB CCDC8 CHRNG SEC24D COL2A1 FAM111A CUL7 COL1A1 ZMPSTE24 MYF6 RTTN RYR1 BIN1 AIFM1 EXOC6B KLHL41 MTX2 HP_PROMINENT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_STERNUM GALNS DYM GATA6 RTL1 AIFM1 MEG3 WNT7A DLK1 GLB1 ARSB ZFPM2 BMP2 HP_BROAD_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_RIBS KCNJ8 PTDSS1 COL11A2 FBN1 GNPTAB SERPINH1 WNT7A COL11A1 COMP AMER1 IL1RN ADAMTS10 SETBP1 SOST NEK9 ARSB SMAD4 ABCC9 ATP7A XYLT1 HP_DEFORMED_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_RIB_CAGE CYP27B1 CYP2R1 SLC34A3 VDR EFL1 SBDS DNAJC21 SRP54 HP_CUPPED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_RIBS COL10A1 B3GALT6 SBDS MMP13 GPX4 AIFM1 RTL1 SLC35D1 BGN MATN3 CFAP410 ADA INPPL1 PCYT1A IHH SRP54 COL11A1 DLK1 COL2A1 DDR2 DNAJC21 MEG3 HP_HORIZONTAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_RIBS WDR35 DYNC2H1 IFT81 EVC CCDC8 DYNC2LI1 NEK1 INTU CEP120 OBSL1 EVC2 COL2A1 CUL7 DYNC2I2 HP_ABNORMAL_CLAVICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CLAVICLE_MORPHOLOGY MSX2 CHRNG FLNA SALL4 TBCE LRP5 TBX3 BCOR SOX4 LMNA ATP7A PCNT DYNC2I2 XYLT1 PTDSS1 SCARF2 FGFR1 DYNC2H1 DPF2 SOST KIAA0586 HHAT TBX5 ARID2 IFT172 FGFR3 RSPO2 IFT140 MYSM1 MMP2 PIGL TRIP11 WNT7A AMER1 PORCN SRCAP SOX11 FBXL3 RUNX2 SUFU SKI TBX15 FIG4 BGN BMPR1A DYNC2LI1 HPGD SETBP1 NSDHL SMARCD1 NAA10 MEG3 CDT1 RNU4ATAC ZMPSTE24 SLC26A2 DYNC2I1 GLI3 FGFR2 RTL1 KIF7 CEP120 ORC6 IFT80 EFNB1 TTC21B BANF1 ORC4 TWIST1 IDUA INPPL1 MMP14 NEK1 COL11A1 PAX1 SMARCE1 CDC6 ARID1B EYA1 SMARCA4 GJA1 TNFRSF11B CTSK ALX4 FAT4 ARID1A B4GALT7 ORC1 CSPP1 VAC14 CDC45 PTH1R SLC35D1 TNFRSF11A IFT81 WDR19 ANTXR1 TRPV4 SH3PXD2B DCHS1 INTU SMARCC2 LBR DYNLT2B PTEN FKBP10 HOXD13 SMARCB1 DLK1 CHD4 RBM8A GMNN HP_LONG_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_CLAVICLES RNU4ATAC TBCE KIAA0586 CHRNG LBR RTL1 TBX15 PCNT HPGD COL11A1 DLK1 CSPP1 SETBP1 MEG3 HP_CERVICAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_RIBS GPC4 SON ANKRD11 PUF60 RUNX2 GATA6 GPC3 RBM8A IFT57 HP_BIFID_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_RIBS TMCO1 PTCH1 KCNAB2 PRDM16 PTCH2 SUFU SKI GABRD RERE HP_SHORT_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CLAVICLES MSX2 TWIST1 IDUA RUNX2 FLNA FBXL3 FGFR2 TBX3 LMNA BGN BMPR1A XYLT1 ZMPSTE24 NSDHL NAA10 DCHS1 RSPO2 PORCN BCOR TRIP11 PTEN FIG4 TBX5 HOXD13 DYNC2LI1 ALX4 FAT4 CHD4 B4GALT7 ATP7A SRCAP HP_LATERAL_CLAVICLE_HOOK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATERAL_CLAVICLE_HOOK SLC35D1 INPPL1 DYNLT2B DYNC2H1 SKI IFT81 SCARF2 NEK1 ORC1 INTU RBM8A DYNC2I1 IFT172 CDT1 DYNC2I2 HP_RACHITIC_ROSARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RACHITIC_ROSARY ALPL CYP2R1 SLC34A3 CYP27B1 CTNS PHEX HP_THICKENED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_RIBS HGSNAT MAN2B1 IDS GLB1 GNS SOST NAGLU SGSH HP_RIB_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_FUSION ACTB CPLX1 CHRNG ANKRD11 HES7 GLI3 GABRD MESP2 TBX6 TMCO1 RECQL4 MYH3 NSD2 CTBP1 ODC1 MAP3K7 SIX6 NELFA ROR2 LETM1 KCNAB2 PRDM16 FGFRL1 SON NXN SOX2 LFNG RIPPLY2 COG1 FOXF1 SKI DLL3 RERE HP_FLARING_OF_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARING_OF_RIB_CAGE GALNS IL1RN DYM B3GALT6 RMRP GLB1 HP_ANTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_RIB_CUPPING COL10A1 SBDS AIFM1 RTL1 SLC35D1 CFAP410 ADA INPPL1 SRP54 COL11A1 DLK1 COL2A1 DDR2 DNAJC21 MEG3 HP_SPRENGEL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPRENGEL_ANOMALY MEOX1 RPL11 TMEM43 HSPG2 GDF3 TBX5 RPS24 GATA1 SEPTIN9 TSR2 RPL26 LMNA PAX3 SUFU RPS26 RPS28 GDF6 RPS17 MAP3K7 CDH2 RPS19 RPS29 RPL18 EMD EFNB1 FLNA SYNE2 TMCO1 SF3B4 TBX2 ADA2 RPL5 RPL35A RPS10 RAF1 RPL35 RPL15 RPS7 COL3A1 FHL1 TBX3 RPL31 RPS27 RPS15A PTCH1 SYNE1 NPR2 PTCH2 BRAF PTPN11 RPL27 HP_SHIELD_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHIELD_CHEST DYM TRAPPC2 BRAF PTPN11 FUCA1 MAP2K1 POP1 XYLT2 CILK1 WNT4 CHST3 HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM MAP2K1 NF1 BRAF SOS1 PTPN11 HP_BROAD_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CLAVICLES WNT7A PTDSS1 MMP14 SH3PXD2B SOST MYSM1 PTH1R ATP7A MMP2 TRIP11 HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION ALPL FGFR3 VDR CYP2R1 DYM NOG SBDS RTL1 PHEX CYP27B1 SLC34A3 CTNS SRP54 DLK1 DDR2 DNAJC21 MEG3 HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION CYP27B1 CYP2R1 SLC34A3 DYM NOG SRP54 SBDS PHEX DNAJC21 HP_MISSING_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISSING_RIBS VANGL1 WASHC5 SOX2 ATR B3GALT6 GABRD BMPER CEP152 WNT3 TBC1D24 TBX6 CENPJ B3GAT3 CHST3 RPS19 FBN1 FLNB PTPN11 SNRPB MYF5 NFASC HDAC6 SIX6 RSPO2 RNU4ATAC ROR2 SOX9 KCNAB2 PRDM16 LBR TBCK FLI1 SKI GPX4 CCDC22 RRAS2 DNMT3A TOR1A FUZ RERE BMP2 HES7 HP_POSTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_RIB_CUPPING INPPL1 COL11A1 BGN DDR2 MATN3 HP_BEADED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEADED_RIBS COL1A2 CREB3L1 TAPT1 PPIB COL1A1 TRIP11 PHEX HP_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYSPONDYLY ALPL COL2A1 PLOD2 TAPT1 MMP13 IFITM5 ATP7A GORAB XYLT1 RSPRY1 FKBP10 PAPSS2 DDRGK1 TONSL HSPG2 PCYT1A COL11A1 FLNB XYLT2 ABCC9 LBR IFT43 PMM2 HDAC6 COMP EIF2AK3 EXTL3 LOXL3 PYCR1 RMRP COL11A2 TRPV4 ACP5 ASXL1 COG4 GLB1 NANS FGFR3 B3GALT6 GALNS DYM OCRL BGN B3GAT3 COL1A1 CFAP410 PLCB3 SPARC TNFRSF11A RNU4ATAC GPX4 BMP1 COL10A1 ACAN KCNJ8 RPL13 SGMS2 EXOC6B FUCA1 PAM16 CSF1R UFSP2 COL9A3 AGA DDR2 MAN2B1 IDH1 MIR140 TRAPPC2 SLC26A2 CANT1 WNT1 MATN3 COL9A1 TCIRG1 TRIP11 KDELR2 NEK1 PPIB SMAD4 SLC25A24 RINT1 COL1A2 SERPINH1 LRP5 GUSB SFRP4 LTBP3 SLC39A13 PTH1R P3H1 MBTPS2 RUNX2 FLNA NEPRO CHST3 SEC24D DHX37 SMARCAL1 PLOD3 SLC29A3 AIFM1 CCN6 MRPS28 KLHL7 KIF22 ADA COL9A2 INPPL1 IDH2 FGFR1 RAB33B LFNG HP_ABNORMALITY_OF_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MATURATION STAT1 CLIP2 UBR1 CYP11A1 ANOS1 MMP13 PPARG FSHR PROP1 POLA1 WNT5A AGA ATRX RMRP SUZ12 MAP3K7 FARSB KMT2A CEP152 XPC DDB2 PROKR2 CTNS NR5A1 ARCN1 CYP11B1 IL17RD LIG4 TAF13 CPLX1 RBBP8 HDAC8 NSD1 SLC29A3 CDKN1C ARID1A CENPJ GTF2I GHRHR NSD2 PTEN PIK3R1 GPX4 CDT1 RNU4ATAC KCNJ8 COX4I2 MRPS22 MSTO1 BSCL2 EVC LSS MT-ATP8 GLI1 PDE4D ALDH18A1 DMRT3 SOS2 GDF5 SLC7A7 INPPL1 BRF1 SRCAP TBL2 LHX4 ALG9 FAM111A GPC3 IGF1 COL2A1 SOS1 WDR11 NGLY1 SMC1A NELFA GATA4 HESX1 HSD11B1 CDC6 FBN1 EYA1 CREBBP SHOC2 FGF8 ORC1 OBSL1 PTDSS1 LIMK1 MPLKIP RNF13 CCDC8 BRAF SMARCA2 IGF2 TRPS1 CKAP2L GLI2 PLK4 INSR NFIX GMNN ALMS1 MRAS GPR101 CENPE KISS1R ENPP1 PROK2 SMC3 SMARCA4 TBCE RECQL4 CENPT SPRY4 NIN PSMC3IP DCC IGF1R PCNT GBA HSPG2 GH1 SEMA3A EIF2AK3 LETM1 ACAN HRAS LHCGR EED ANAPC1 MADD KISS1 TP53 TONSL GPC4 FGFR1 SHANK3 AIP B3GAT3 PTH1R ZFPM2 ZEB2 SRP54 DHX37 MC2R TAC3 DONSON KRAS DYNC2LI1 LONP1 FGF17 DCAF17 IFT57 PPP1CB ERCC2 ANTXR1 AHSG NR0B1 TACR3 VAMP7 SRY GNRHR GTF2E2 NSMF HSD17B4 SOHLH1 GTF2H5 NSUN2 SOX9 DDOST HMGA2 SLC25A24 KCNJ2 DVL1 FLNB B4GALT7 RRAS LTBP3 GJB6 PRKAR1A ELN FOS PDGFRB PIK3C2A FOXA2 CYP17A1 RIT1 SPRTN PEX1 ITGB6 MEN1 TRPV4 CUL7 H1-4 NDNF TSHR ORC4 SCARB2 SLC35D1 SLC10A7 ERCC4 SOX3 MECP2 AIFM1 PIGT GJB2 GHSR PTCH1 RAD21 ASXL2 MAP3K1 PCSK1 CSGALNACT1 RNF135 BNC1 TET3 SMPD1 RRM2B SBDS RPS6KA3 NUP107 RNF113A COX4I1 PPP1R15B RRAS2 DUSP6 NRAS RASA2 CD96 EXTL3 ATRIP ARID1B XYLT1 KIF15 ATR ESR1 POU1F1 FEZF1 GNAS THRA GTF2IRD1 TAB2 TRHR DNAJC21 RFC2 TBCK RBM28 POLR3H SPIDR GLI3 EZH2 WT1 ORC6 MT-TL1 HSD3B2 A2ML1 RSPRY1 RAF1 SETD5 GHR MKRN3 CYB5A POU3F4 CYP19A1 SMARCB1 XPA BMP2 STAT5B ANKRD11 SETD2 MBTPS2 MSMO1 CHST3 CHD7 BTK CAVIN1 ROR2 HS6ST1 TRAIP LPIN2 CBL CCDC141 PEX6 ITCH FMR1 NIPBL ERCC3 ABCC9 NBAS LEP H19 TRH FSHB NR2F1 RNPC3 DDX6 ERCC5 PTPN11 CAV1 APC2 GJA1 CANT1 POR CCBE1 SIN3A NPR2 NEU1 PAM16 MVK AGPAT2 TMEM67 CEP57 TARS1 WDR4 EXT1 PCGF2 SECISBP2 HUWE1 EP300 CTBP1 PAX1 EFL1 SOX10 BMP15 FGFRL1 MCM9 ZBTB16 CHP1 PPP2R3C BAZ1B CDC45 IHH FLRT3 MALT1 PAX8 IGFALS KCNQ1 KCNQ1OT1 POP1 DPP6 LZTR1 EVC2 POMC GNRH1 LEPR OTX2 WWOX HP_CHONDROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROCALCINOSIS ATP7A CDC73 ATP7B GCM2 CLCNKB TNFRSF11B MEN1 FXYD2 ALPL GNA11 SLC12A3 ANKH LMNA SLC12A1 AP2S1 PDGFRB NOTCH3 KCNJ1 WRN HP_THICKENED_CORTEX_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CORTEX_OF_LONG_BONES MAN2B1 TBCE LRP5 LIFR FAM111A TGFB1 SOST ANO5 NF1 COL1A1 SETBP1 HP_OSTEOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPENIA BNC1 STAT1 CLIP2 LRP5 SRP54 SMPD1 UNC80 NUP107 FSHR PROP1 GFI1 MGAT2 ATP7A GORAB RNF113A TONSL FBN2 DUSP6 FARSB CAVIN1 ATP6V0A2 KCNJ1 HBB COL5A2 USP9X SKI CCND1 CTC1 SBDS CDH23 MLXIPL ESR1 POU1F1 NR5A1 MAGEL2 PRKACA B3GALT6 NSMF ADAMTS2 SNRPN B4GALT7 GTF2E2 GTF2IRD1 GTF2I IGF1 COL1A1 PROKR2 ANTXR2 MBTPS2 ZMPSTE24 SEC23A COX4I2 MEN1 NDN RFC2 FGFR1 SGMS2 NPR2 SMARCD2 STAT3 SLC17A5 POLR3H GCM2 CREB3L1 SPIDR XYLT2 HRAS MAN2B1 PHGDH SLC7A7 PMM2 TBL2 LHX4 PIK3CD FKBP10 RSPRY1 WDR11 MAFB SIM1 HERC2 COG1 NAGA MMP2 GPAA1 FAT4 PWAR1 PTH1R LIMK1 RNU4ATAC MPLKIP ANAPC1 P3H1 UROS ADCY10 BRAF IL17RD CHST3 CHD7 FBN1 GLI2 ADAMTSL2 GZF1 SMARCAL1 SATB2 PLOD3 NOTCH2 COL5A1 DCHS1 KISS1R IRX5 NPAP1 PLEKHM1 CRIPT PROK2 STN1 CRTAP SNORD116-1 PLS3 MST1 RECQL4 PLOD2 TAPT1 SPRY4 LMNA TRPV6 IFITM5 PSMC3IP CYP19A1 ERCC3 PYGL TRPS1 GBA GNPTAB PIGT NRAS EIF2AK3 FGF8 KL ALDH18A1 FUT8 HNRNPK MKRN3 SNORD115-1 TERT ANO5 NF1 RNF125 EED SLC39A8 SLC9A3R1 GLIS3 PSAP FKBP14 P4HB B3GAT3 SLC34A1 HECW2 HPGD DNAJC21 CTCF POLR3A FGFR2 TAC3 POLE OCA2 PRLR FGF17 DCAF17 ERCC2 CDC73 MTX2 TMEM67 TARS1 GPR35 TACR3 MDM4 GNRHR HSD17B4 HESX1 KRAS GTF2H5 MMP14 GNPAT RPL11 PIGY HS6ST1 DDOST SLC12A1 IARS2 IL1RN COL7A1 AEBP1 EFL1 CYP3A4 GATA1 FLRT3 IER3IP1 PWRN1 PRKAR1A AIP SLC35A2 BMP15 TAF1 SERPINH1 AVP SLC2A2 ELN DPM2 GEMIN4 SOX3 BAZ1B PDGFRB LIFR FOXA2 SLC39A13 MMP1 TMEM38B MTAP SH3PXD2B SEC24D ANOS1 MRPS22 SCARB2 GNRH1 ELANE GNAS MTTP PIGU KNSTRN PDE11A OTX2 TREM2 PYCR1 PSAT1 TCF4 PLOD1 TCIRG1 KISS1 HP_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPOROSIS BNC1 TMEM165 STAT1 CLIP2 LRP5 SLC37A4 NFIX SMPD1 CYP11A1 HPGD NUP107 PDLIM4 FSHR PROP1 ATP7A GORAB NR5A1 AEBP1 TNFRSF11B LARS2 IFT122 DUSP6 CAVIN1 ATP7B HBB TENT5A CTC1 RTEL1 PYCR1 VPS53 CDH23 DKK1 MLXIPL POU1F1 HFE CYP11B1 WDR35 TERT MAGEL2 PRKACA B3GALT6 PLOD2 NSMF SNRPN HAMP TINF2 GTF2IRD1 HSPG2 GTF2I SPARC CBS NSD2 PROKR2 BMP1 ANTXR2 COL2A1 KCNJ8 SRSF2 MEN1 NDN RFC2 SGMS2 TBCK WRN TET2 CYP27A1 SMAD3 POLR3H SPIDR ALB PHKA2 TGFBR2 DMRT3 ASAH1 ESR1 PHGDH SLC7A7 ARMC5 WT1 TBL2 LHX4 ERCC6 HSD3B2 USP8 ASXL1 IGF1 G6PC SLCO2A1 LIFR FKBP10 GLB1 COL1A2 WDR11 POU2AF1 NELFA GATA4 LMNA SIM1 HERC2 NHP2 CYB5A LAMC2 PHKG2 MMP2 GPAA1 PWAR1 POLG2 LIMK1 RNU4ATAC TNFSF15 WNT1 MMP14 ADCY10 TNFRSF11A RUNX2 IL17RD CHST3 CHD7 ZNF469 TRMT10A GLI2 PROK2 GCM2 SMS WRAP53 GK PCCA NOTCH2 NPAP1 CBL HSD3B7 CALCR POF1B DKC1 SNORD116-1 ADAMTS2 LRP6 PLS3 MST1 IL12A NOP10 SPRY4 PSMC3IP CYP19A1 PYGL PDE8B LAMB3 XYLT2 TERC ABCC9 PMM2 EIF2AK3 PRDM5 CDC73 LETM1 FAT4 CYP17A1 SPIB FGF8 NDUFAF1 AIP IFIH1 PRKAR1A GNAS MKRN3 RRM2B MTRR SNORD115-1 ANAPC1 NF1 TONSL MMEL1 FGFR1 PDE11A TWNK POLD1 USB1 CTDP1 GALNS SLC9A3R1 IFT43 KISS1R B3GAT3 AKR1D1 ZFPM2 SLC34A1 WDR19 SRY RPL10 POR COL1A1 DHX37 PARN TAC3 BMP2 OCA2 PRLR FGF17 ZBTB20 AR NR0B1 GPR35 TACR3 IL12RB1 VAMP7 BANF1 GNRHR RECQL4 HESX1 POLG NPM1 CANT1 RPL11 RAB3GAP1 SOX9 HS6ST1 COL7A1 TRIP11 KDELR2 FLRT3 PWRN1 IFT52 BMP15 ELN WNT3A HSD17B4 SRC PLOD1 RUNX1 GALT SOX3 BAZ1B MALT1 IRF5 TNPO3 ESR2 FOXA2 MMP1 SLC25A19 NGLY1 SC5D LAMA3 SH3PXD2B ANOS1 MRPS22 GNRH1 CCN6 PIGT SP7 HJV OTX2 RIN2 PCCB ASXL2 PEX12 MAP3K1 PSAT1 TCF4 KISS1 WWOX SLC25A4 HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY CLIP2 EXT2 COMP LRP5 MMP13 COL11A1 ATP7A EVC SOST XYLT1 DDRGK1 TNFRSF11B ATRX RMRP TENT5A SKI LOXL3 RPGRIP1 CTNS KANSL1 CEP55 B3GALT6 PLOD2 CYP2R1 KIF22 OCRL FAM20C NSD1 SPART GTF2I DYM SETBP1 CBS COL9A2 MMP9 COL10A1 COL9A3 COL2A1 GNPTG RNU4ATAC MATN3 BCOR RPGRIP1L FN1 FGFR2 GNAS COL1A1 FIBP UFSP2 GLI1 CLTCL1 TMEM107 INPPL1 TBL2 SHOX FAM111A FKBP10 GLB1 POR COL1A2 HERC2 TBXAS1 PHEX MKS1 IHH NF1 SFRP4 C12orf57 ORC1 PWAR1 NEK8 VAC14 GUSB PTDSS1 LIMK1 TRPV4 P3H1 HSPG2 CLCN7 TRPS1 LBR ENPP1 SOX9 NOTCH2 NPAP1 SNX10 PCYT1A SNORD116-1 TNFSF11 MEGF8 SHH TBCE RECQL4 CENPT TRPV6 AIP PCNT PAPSS2 KIF7 TMEM216 BPNT2 RBM8A IFT172 EIF2AK3 COG5 IFIH1 DYNC2H1 FLNA MKRN3 BHLHA9 SNORD115-1 WNT7A CDC45 CRKL TCTN2 B3GAT3 PEPD WDR19 ZEB2 RAB23 MAPK1 MAP2K1 POLR3A DYNC2LI1 ZBTB20 IFT57 TNFRSF11A SLC34A3 CA2 EVC2 HOXA11 IDUA RUNX2 CANT1 MAN2B1 TRIP11 HS6ST1 KDELR2 ANTXR2 LRP4 ACP5 ANO5 GJA1 EXT1 FLNB PUS3 NDN B4GALT7 DYNC2I1 VDR ELN LIFR CLCN5 TMEM38B MTAP SLC35D1 SLC10A7 CCN6 UGP2 PYCR1 FGF23 CSGALNACT1 FGFR1 RAB33B SNRPN TMEM165 RPS6KA3 HPGD GLI3 FGFR3 GORAB TONSL IFT122 CTC1 SLC26A2 TCIRG1 CYP27B1 WDR35 GTF2IRD1 VPS13B SEC24D DMP1 RPL13 COL11A2 RFC2 SGMS2 TGFB1 POLR1A B9D1 DDR2 BCR ORC6 SLCO2A1 RSPRY1 COL9A1 GPR101 PRKACA GDF5 ATP6V0A2 CEP290 TPM2 MCTP2 LMOD3 PTH1R SMOC1 ANAPC1 EFL1 NDUFAF6 NEPRO CHST3 FBN1 CFL2 MAGEL2 TUBB3 NPR2 CRTAP DLK1 MAP2K2 ALPL CYP19A1 SCARF2 KRAS TMEM231 STX16 IARS2 RSPO2 LMBR1 NEB NFIX IDS VPS35L BRAF HBB GALNS CC2D2A IFT43 B2M FIG4 BGN GAN ACAN MEG3 B9D2 ESCO2 EHHADH RTL1 LONP1 MTX2 TMEM67 NKX3-2 TCTN3 SATB2 PRKACB CYP3A4 PWRN1 IFT52 KAT6A WDPCP SERPINH1 SLC2A2 MAP3K7 CSPP1 ACTA1 PTPN11 BAZ1B SH3PXD2B KLHL41 BMPR1B P4HB ARSB HP_DYSOSTOSIS_MULTIPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSOSTOSIS_MULTIPLEX MAN2B1 IDUA CTSA GNS NEU1 HGSNAT FUCA1 VPS33A GNPTG GNPTAB NAGLU FGFR1 GUSB KRAS AGA ARSB IDS GNE SUMF1 SGSH HP_ABNORMALITY_OF_THE_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METAPHYSIS TP53 WDR35 TMEM165 LRP5 SBDS MMP13 FGFR3 COL11A1 PEX5 COL2A1 IL7R XYLT1 PTDSS1 DDRGK1 TONSL RMRP ACSL4 IFT122 COMP EXTL3 IFT140 SKI CTC1 SLC26A2 RTEL1 GPC6 ACP5 TCIRG1 AMMECR1 CYP27B1 AMER1 SUZ12 NANS CTNS UFSP2 ARCN1 EXT1 TNFSF11 TERT B3GALT6 MMP9 CYP2R1 KIF22 OCRL FLNA CDKN1C CFAP410 HSPG2 PLCB3 DNAJC21 DYM IFT172 TNFRSF11A GPX4 COL10A1 TRPV4 RNU4ATAC KCNJ8 KIAA0586 SEC24D RPL13 COL11A2 DYNC2I1 FN1 IL2RG GNAS WDR19 TGFB1 IFT80 SLC17A5 ANKH TTC21B EZH2 DDR2 CHD7 LPIN2 INPPL1 IDH1 CENPE MIR140 LIFR RAG2 VDR ALG9 GLB1 DYNC2H1 ACAN KCNE5 TNFRSF11B TBXAS1 DYNC2I2 PHEX COG4 MMP2 SNRPN POLE ADA SFRP4 PTH1R SRP54 SETBP1 VAC14 EXOC6B ANAPC1 EFL1 CLCN7 RUNX2 CCDC8 NEPRO CHST3 FBN1 ACVR1 SMAD4 FAM111A ERCC1 CASR LBR WRAP53 NHP2 SNX10 ATP7A LMBR1 PCYT1A DLK1 BMPR1B DKC1 ALPL LIG4 RECQL4 TAPT1 PCNT RSPRY1 PITX1 GNPTAB TERC RASA1 ABCC9 HDAC6 EIF2AK3 SHOX STX16 RAG1 TRIP11 EED PORCN NDN USB1 GALNS PTPN11 IFT43 FIG4 BGN B3GAT3 DYNC2LI1 LEMD3 PEX7 OSTM1 CANT1 MEG3 CUL7 MAGEL2 PARN RTL1 LONP1 PAM16 CEP120 CSF1R SLC34A3 AIFM1 EXT2 NOTCH3 NKX3-2 SIK3 GJA1 TINF2 NPM1 MATN3 IARS2 CYP3A4 OBSL1 IFT52 RB1 NSMCE2 WDR26 MAP3K7 B4GALT7 NOTCH2 CSPP1 PLEKHM1 PIK3C2A NSD1 SLC39A13 CLCN5 SLC35D1 NOP10 PDGFRB MTAP ANTXR1 POP1 SH3PXD2B CHEK2 SLC29A3 CWC27 CCN6 PISD NPR2 P4HB IDH2 ARSB RAB33B DCLRE1C HP_HYPOPLASTIC_ILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIA MAN2B1 INPPL1 WNT7A RUNX2 COL2A1 TRAPPC2 ERCC6 TBX15 LIFR EVC PCNT PCYT1A EP300 SMAD4 HDAC6 SOX9 ACP5 RMRP POLR3A CREBBP IHH FGFR3 EED B3GALT6 ERCC8 DYM FLNB EXOC6B COL11A1 IFT81 FLNA GATA1 RPS19 DDRGK1 POP1 SLC26A2 MEG3 CCBE1 RNU4ATAC SLC35D1 COL11A2 RTL1 WDR19 KAT6B DLK1 NKX3-2 ARSB EZH2 EVC2 HP_DUMBBELL_SHAPED_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUMBBELL_SHAPED_LONG_BONE SLC35D1 INPPL1 SLC26A2 COL11A1 COL2A1 HP_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JAUNDICE LYST VPS33B ANK1 RNASEH2B PEX11B GCLC CASK CPOX TPO ARL13B ATP7A PEX5 NR1H4 PRPS1 CCDC115 SPTA1 EPB42 HBB GALM SAMHD1 SLC4A1 MMACHC GPI PEX6 PRSS2 RAB27A SLCO1B3 TG NPC2 PRF1 PEX2 KRT18 GALE ACADVL DUOX2 TBX19 SP110 CDKN2A OCLN PIEZO1 SMPD1 HK1 ETFB RHAG LHX4 ABCC2 GALK1 SLC25A13 PKHD1 DHFR RNU4ATAC IL18BP COX4I2 ABCB4 ABCD3 IL2RG PALLD CLDN1 CDAN1 PEX1 PAX8 ADAR TSHB SPTB ALDOA ATP6AP1 PEX26 ATP8B1 PEX16 TSHR EPB41 FLI1 PEX13 POU2AF1 CTRC SLCO1B1 CASR PRSS1 G6PD PKLR GLRX5 CFTR DUOXA2 AKR1D1 TNFSF15 SETD2 DCDC2 UGT1A1 PEX3 POU1F1 CYP7B1 ADAMTS13 COG7 STX11 SLC44A1 ALDOB RNASEH2C BRCA2 AMACR HSD3B7 SLC5A5 IFIH1 PEX14 PROP1 TREX1 SPINK1 ETFA MST1 IL12A GYPC TP53 LBR PEX12 SEC23B BPGM ABCB11 F5 TTC37 EIF2AK3 SPIB ATP11C PALB2 VIPAS39 GPC1 PEX19 CPA1 IYD PTPN3 MMEL1 DZIP1L SLC30A10 DGUOK JAG1 ETFDH NKX2-5 APC2 POLG2 ATP6AP2 PFKM PEX10 CTCF LIPA TPI1 PEPD GPR35 IL12RB1 TRHR MPV17 CDIN1 SLC2A1 BRCA1 KRAS SERPINA1 RNASEH2A IER3IP1 HESX1 TFAM NSD1 RINT1 HNF1B JAK2 LHX3 HMGCL PRKAR1A SLC26A4 KCNN4 NBAS GALT KRT8 IRF5 TNPO3 KMT2E DPAGT1 HBG2 PARS2 ATP7B TRMU NPC1 LPL SMAD4 TCF4 HNF4A SPOP HP_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_SKIN NOD2 CD28 STK11 CYP11A1 CDKN1A ERCC4 NDUFB11 PRKAR1A ADAR FANCF TINF2 BRCA1 FGFR1 SPINK5 GNAQ BTNL2 CASR FGFR3 XPC DDB2 RTEL1 ACP5 MAPK1 SLX4 PARN ERCC6 HFE RAF1 CYP11B1 TERT LEMD3 FANCB C1S ABCB6 C1R GNAS SLC29A3 MRAP KRAS PSMB8 HAMP SRD5A3 NCF2 PTEN FANCM IKBKG SEC23A PALB2 KRT14 NRAS FANCC RBM28 TXNRD2 TUBB ATP2A2 APC HPS1 JAK3 CYBC1 GPNMB PIK3CD CDKN1B HSD3B2 SNRPN TGM5 FANCI MAFB GPR101 MLH1 XRCC2 DSTYK POU2AF1 PIGN CPOX KDM6B CTLA4 OCA2 CYBA RAD51C NHP2 ATP6V1B2 MYO5A KIT MMP2 POFUT1 NCF1 XPA HRAS ERCC1 KRT5 INSR KITLG TP63 TNFSF15 ANAPC1 SETD2 DNASE1L3 SLC40A1 HGD HLA-DRB1 FANCE BRAF SASH1 PTPN11 GJB6 UBE2A NNT KDSR SMARCAL1 CTC1 SMS WRAP53 RAD51 CRIPT MC2R TNFRSF1B NF2 DKC1 MAP2K2 PAX6 UROD IL12A RECQL4 NOP10 LBR GMPPA AIP ERCC3 PCNT TERC TRAPPC11 STAR SLC6A19 NR0B1 CYP17A1 SPIB CDKN2C FANCD2 COL3A1 HMGA2 AAAS SDHB NF1 MMEL1 BRIP1 PANK2 PORCN HBB GNA11 ACTB USB1 ERCC5 USP8 UROS CDKN2B APC2 SVBP ABCD1 KCNN3 POR RIT1 KCNH1 MEN1 PIK3CA MAP2K1 BMP2 ZMPSTE24 POLH ACD APOE NOTCH3 SALL4 IL12RB1 AKT1 BANF1 GJB3 BLM MC1R ST3GAL5 SDHC LYST NPM1 GJA1 COX7B FERMT1 ERCC2 GBA ALAS2 RPS27 BRCA2 CSTA CYBB CDH23 NSD1 CHN1 HJV TNFRSF1A CARD14 GJB4 IRF5 TNPO3 LMNA FANCL PDGFRB ANTXR2 UBE2T RFWD3 ERCC8 ALDH3A2 FANCG SDHA IL6 FANCA HCCS MAD2L2 KNSTRN MAPRE2 NCF4 TFR2 PDGFRA COL7A1 PPOX POLA1 HP_SINGLE_TRANSVERSE_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_TRANSVERSE_PALMAR_CREASE UBR1 PUF60 APC SOX4 TCF4 SMPD4 XYLT1 PEX5 IFT122 COX14 LONP1 FGFR3 ARID2 FGD1 NALCN DOCK6 TPM2 GDF5 ARID1B PIEZO2 THOC2 TSEN15 CKAP2L DIS3L2 CPLX1 NOG HDAC8 FLNA RPL10 KCNK9 NUP188 ZNF462 SEPSECS MEG3 DLK1 NSD2 TNNI2 RNU4ATAC PEX13 VPS51 RPS6KA3 PEX1 RPS23 B3GLCT TELO2 ATR BRF1 IGF1 LIFR CEP55 SMARCE1 MED12 SMC1A LMX1B TSEN2 PEX10 SETD5 FOXP1 PEX6 SMARCA4 BMPR1B CTCF MCTP2 TSEN54 GLE1 PLAA PEX19 SETBP1 VAC14 SMOC1 EHMT1 ANKRD11 SMARCAD1 MSL3 GATA1 CDK19 TRPS1 OFD1 MYH3 MAP1B SMC3 RAB11B PEX2 DPH1 VPS13B ITCH PPP2CA PEX14 NIPBL DPF2 FGFR2 TWIST1 NBAS UBA1 SIN3A CHST3 TGDS NXN LETM1 EXTL3 DLX4 PEX11B CD96 MED25 SOX11 PEX26 RTL1 RBM10 PKDCC FIG4 PIGS PEPD PDHA1 SMARCD1 DDX11 WAC CCBE1 PEX3 ESCO2 KMT2A TFAP2A PNPLA6 IFT57 STXBP1 EXT1 PEX12 PEX16 EP300 CTBP1 TCF12 ROR2 FGFRL1 G6PC3 CREBBP HDAC4 MAP3K7 ADNP TSEN34 SLC16A2 ARID1A B4GALT7 BMP4 TBX4 NECTIN1 KAT6B STAG1 TASP1 AMACR BHLHA9 NGLY1 SMARCC2 FGF9 DPAGT1 TNNT3 RIN2 RAD21 SMARCB1 CSGALNACT1 PACS1 UBE3B HP_ACANTHOSIS_NIGRICANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOSIS_NIGRICANS PEX6 INSR PLIN1 PPARG FGFR3 CYP19A1 AIP CIDEC LMNA XRCC4 GPR101 ALMS1 CAVIN1 FGFR2 CUL4B HSD11B1 SPINK5 HRAS NSMCE2 BSCL2 JUP ESR1 AFF4 AGPAT2 FOS AKT2 CAV1 PKDCC PSMB8 PSMB9 PSMB4 PEX1 POMC ERF POLR3A ELOVL1 CLDN1 PCSK1 MC4R LIPE HP_CAFE_AU_LAIT_SPOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAFE_AU_LAIT_SPOT TP63 PHIP KDM6A UBR1 NBN BUB1B SDHB TMEM127 ATM FANCE TMC6 PCNT PRKAR1A FANCA MEN1 REV3L BRAF SLX4 SIN3A BRCA1 TTC37 KRAS FANCI SPRED1 KMT2E FANCD2 MYT1L VHL MTOR BRCA2 MAPK1 ANAPC1 TRMT1 NF1 SEC23B KANSL1 ACTL6B RAF1 BRIP1 PIK3CA BUB1 FANCB FBXW11 ABCB6 IFNG SVBP BUB3 MED13 MSH2 PTEN USF3 FANCM CIB1 ARL6IP6 ACTL6A TANC2 ESCO2 SOX10 KLLN PALB2 MAP2K1 GDNF FANCC CEP57 ERCC4 RERE SDHC PPP1CB MAP2K2 AKT1 BLM FANCF WASF1 NF2 TSC1 APC HMGA2 DOCK3 PLXND1 IGF1 DDX6 RLIM MAN1B1 TMC8 SETBP1 EP300 BPTF RET MLH1 XRCC2 MSH6 KDM6B SDHD RBBP8 KMT2D CREBBP RAD51C FANCL PSMD12 SKIV2L MED12 KIF1B BCORL1 KITLG TRIP13 PLAG1 NTNG1 TCF20 TOP3A PTPN11 NRAS IGF2 UBE2T RFWD3 CBL PMS2 FANCG TWIST2 KDM5C STEAP3 MAD2L2 CDKN1C CWC27 MAX TSC2 SMARCAL1 IL7 WDFY3 RAD51 ZMIZ1 TRAPPC4 HP_DRY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_SKIN NOD2 TP63 RNASEH2B IFT43 ALOXE3 CD28 INSR LIG4 NAGA IL7R ELOVL4 ERCC3 ERCC4 RNF113A TRPM1 SULT2B1 FGFR1 BRAF SLC5A5 PEX7 EDARADD PROKR2 TTC37 KRAS TWIST2 SPINK5 COG6 SAMHD1 GINS1 PAH CASR TSHR XPC DDB2 MYSM1 TRH KYNU TERT RAG1 ARNT2 BAP1 WNT10A MAPK1 KIF15 TGM1 PCNT UBE2A ERCC2 FDFT1 RAF1 CDKN2B OFD1 SMARCAD1 GNA11 ERCC5 THRA PEX11B ALOX12B WNT10B EDA GTF2E2 LIPN TINF2 TRIP4 PEPD TREX1 ACD MPDU1 GSN EDAR CLDN10 RNU4ATAC TNFRSF1B MAP2K1 IL2RG ELOVL1 FUCA1 POLH KIF11 TARS1 CYP4F22 GJB3 ABCA1 CHD7 ADAR GTF2H5 NSUN2 GPNMB ERCC6 CDK4 GJA1 CST6 SOX3 DDOST OSMR RNASEH2A RAG2 MITF ATP7A RIPK4 NIPAL4 DOLK CTLA4 CDKN2A RMRP SLC39A4 UVSSA RALGAPA1 SKIV2L ADA NOTCH2 XPA GJB4 PPP2R3C ERCC8 FLG NLRP1 MPLKIP OTX2 POT1 PAX8 MBTPS2 STS PRKD1 KANSL1 MC1R ALG11 ALDH3A2 TERF2IP KDSR MGMT SOX2 PHYH RNASEH2C ODC1 ABCA12 NTRK1 CLDN1 HESX1 CSTB RNF168 MAP2K2 IFIH1 SDR9C7 DCLRE1C PKP1 HP_CYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOSIS AK9 TREX1 RNASEH2B MUSK VAMP1 CHRNA1 CYB5R3 TCF4 PCK1 ENG GJA1 NKX2-5 SLC25A1 CHRND SLC25A3 HSD17B10 SEPTIN9 KCNQ2 COL5A2 COL13A1 SAMHD1 TBX20 SLC25A20 ACTC1 ELP1 MYH6 CYB5A CHRNB1 GABRG2 PRRT2 SFTPC ACVRL1 ENPP1 ABCA3 PAX3 COL1A1 SCN2A AGRN GATA6 SCN1A ETHE1 RAPSN ZMPSTE24 SYT2 SCN1B SLC2A1 RPS6KA3 KCNQ3 SFTPB ADAR RBM10 TMEM260 LRP4 PCDH19 CHRNE RNASEH2A SCN4A ABCC6 FUCA1 PSAT1 SNAP25 GTPBP3 PUS3 SCN8A PRKAG2 SLC5A7 AGXT DOK7 TLL1 MYO9A STXBP1 MMP21 CITED2 CHAT GABRA1 HBG2 RNASEH2C COL5A1 ZIC3 GATA4 MVK MT-CYB IFIH1 SLC18A3 LMNA SCN9A HP_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKERATOSIS LIPN AP1B1 CD28 DSG4 DMD MVK VEGFC ELOVL4 DSG1 PSEN2 COL6A1 DSP PNPLA1 LMNA FLT4 XPC DDB2 RTEL1 HAND2 KRT10 GJB2 RAF1 ATP2A2 KANSL1 KRT5 SMARCAD1 AKT1 ASPRV1 ALOX12B ADAMTS2 KRT6B TYR ALOXE3 MPDU1 NSDHL USF3 RNU4ATAC DOLK COL17A1 KRT14 CAP2 MYH7 NECTIN1 CARD14 LAMB3 CYP4F22 DIP2B TXNRD2 LAMA3 DDR2 WNT10A GATAD1 FUCA1 SERPINB7 CTLA4 COL6A3 MYBPC3 TNNI3 POFUT1 MYPN KRT86 COL12A1 FHL2 KITLG TP63 NLRP1 SLURP1 MBTPS2 KRT83 GJC2 STS BRAF CERS3 GJB6 LAMC2 TRPV3 KRT1 CTC1 INSR TGM1 DSG2 KRT13 TNFRSF1B ANKRD1 TRAF3IP2 DKC1 WRN KRT2 PKP1 RECQL4 GMPPA TERC TRAPPC11 ABCA12 BAG3 HRAS AAAS USB1 ANAPC1 COL14A1 TTN TAF1A CSTA PSENEN ATP2C1 ERMARD VCL HDAC6 TRIP4 CTSC GLA PEPD TMPO LEMD3 PIGL KANK2 HPGD DDX58 ITGB4 KRT6C RIT1 MAP2K1 GBA TAT GJB3 PLN NPM1 TCAP COL7A1 FERMT1 IL1RN NIPAL4 SERPINB8 PTEN KRT9 KRT16 IL17F POMP GJA1 PERP TAZ GJB4 PMVK TNNT2 SDHB PDGFRB ACTC1 TPM1 NOP10 PLEC LORICRIN NRAS KRT81 KDSR ERCC4 AAGAB CSRP3 TERT NAGA TMPRSS6 KRT6A SDR9C7 POLA1 RSPO1 ENPP1 SULT2B1 TRPM4 LDB3 ELMO2 TARS1 COG6 NECTIN4 ACTN2 SEC23B PIK3CA SRD5A3 DNAJC21 IKBKG ZMPSTE24 ADAM10 AQP5 KLLN SDHA CDH3 COL6A2 CAST RHBDF2 LAMA4 SOX18 ECM1 MYH6 SLCO2A1 ABCC9 KLHL24 KDF1 DES FKTN SDHD SNAP29 ZNF750 XPA CLEC7A JUP WRAP53 KRT17 NHP2 ATL3 MAP2K2 TNNC1 PPCS SGCD ERCC3 SCN5A FGFR2 KRAS ERCC2 ERCC5 FKBP14 IL17RC ST14 PARN NEU1 PRDM16 PSEN1 MTX2 SDHC AP1S1 TINF2 GLS EXPH5 NEBL IL17RA MCOLN1 CRYAB GRHL2 NEXN ALDH3A2 SASH1 DSC2 ZC4H2 HLA-DRA RBM20 HP_THIN_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_SKIN ABL1 TP63 USP8 ARMC5 ERMARD LIFR COL1A2 DDR2 ERCC3 UROD LMNA PDE8B ERCC2 EDARADD EDAR ARFGEF2 TRAF6 PRKAR1A PPARG FLNA CDH23 AIP XPC DDB2 CTC1 COL3A1 PYCR1 GNAS POLR3A NFIX PROS1 KDF1 CHUK SLC2A10 ORC1 PLOD1 TGFBR1 XPA GORAB PDE11A SATB2 B3GALT6 COL7A1 TNXB PTDSS1 ERCC5 COL1A1 SLC39A13 EDA B4GALT7 ARF1 PEPD PRKD1 MTAP PROC PIK3R1 PRKACA SMARCAD1 TWIST2 TGFBR2 C1R ERCC4 TMTC3 PORCN PDGFRB SOX18 MAP1B PPP1CB NEDD4L ZMPSTE24 ALDH18A1 KRT2 ADAMTS2 UBE3B HP_ECZEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMA STAT1 HSPA9 MTHFD1 IFIH1 DDX41 HPGD RAC1 CD28 TBX1 CASP8 CYBA TMC6 ERCC3 RNF113A IL6R SCNN1A PRMT7 CARD11 HLA-DRB1 WIPF1 SRD5A3 CTLA4 PIGA NCF4 SPINK5 FLI1 CARMIL2 ZNF341 NEK9 HDAC4 GINS1 COMT PAH WAS CASR MYSM1 BTD HLA-DQB1 UFD1 SBDS DOCK8 MCCC2 KDF1 KANSL1 KRT1 STAT3 SLC30A2 SMARCA2 LIG4 GNA11 PGM3 TKT IL6ST SEC24C EDA PTPRC GTF2E2 NCF2 DNAJC21 DHCR7 CIB1 MS4A2 RREB1 NSUN2 CD3G TBCK POLE IL2RA TRAF3IP2 HIRA KRT9 RRAS2 ERCC2 SCNN1G SCNN1B SUOX PEPD TARS1 RBCK1 IL7R SIK3 GTF2H5 CYBC1 AUTS2 NCF1 TGM5 SLCO2A1 PLA2G7 FOXP3 EDARADD EDAR TMC8 TRAF6 GP1BB EFL1 ARVCF NSMCE3 CSTA FECH CYBB RNU4ATAC TAF1 FOXN1 SMARCC2 LBR CARD14 ADA2 JAK1 ZNF750 KRT16 STAT5B SRP54 C5 FLG NOD2 SHOC2 MPLKIP ZAP70 IL4R MSN MBTPS2 BRAF HLCS RTTN LRRC32 TP63 PIK3CA PCCA IL7 JMJD1C PCCB TNFRSF1B MORC2 RBM8A HP_CUTIS_MARMORATA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_MARMORATA ABL1 RNASEH2B LARP7 ADAR NSUN2 DLL4 ADA2 SOX4 GUCY1A1 MAT2A NIPBL PIK3CA RNASEH2A ARHGAP31 TGFBR2 DPF2 HDAC8 MYH11 ARID2 PRKG1 SMARCE1 SMC1A SETD5 DOCK6 SAMHD1 ARID1B SMC3 SMARCA4 EOGT ACTA2 AKT3 NOTCH1 ARID1A PDSS1 AGXT SMAD4 LIG4 MYD88 NFIX PTDSS1 RNF113A MFAP5 TGFBR1 SOX11 LOX STAG1 RBPJ TREX1 PTEN SMAD3 SMARCD1 DDX11 FTO SMARCC2 ARL6IP6 FOXE3 STING1 TGFB2 KMT2A ELN RNASEH2C RAD21 CBS DHCR7 TGFB3 SOX18 NFIA SMARCB1 RPS6KA3 FBN1 MYLK IFIH1 POLA1 HP_HYPOHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOHIDROSIS ALOX12B TP63 GLA ZFHX2 SCN9A TRIP4 ERCC4 GMPPA FGFR1 PNPLA1 SHANK3 ABCA12 EDARADD PROKR2 COG6 ARNT2 WNT10A MADD ERCC6 ELP1 CTNS KDF1 SOX10 ALOXE3 HEXB STIM1 EDA ST14 NFKBIA EDAR CLDN10 ARX GJB2 COL11A1 COQ2 ADAT3 CST6 SOX3 PRDM12 STS NIPAL4 ALX4 TRAF6 CLCF1 LMNB1 TGM1 TSPEAR ROGDI RIPK4 GHR SLC13A5 KRT14 GJB6 CASK NECTIN1 EDA2R LIFR OTX2 MBTPS2 FAM111B CERS3 ERCC8 SMARCAD1 ELOVL4 SOX2 KCTD1 HESX1 CSTB CRLF1 POLA1 HP_PETECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETECHIAE TREX1 NPM1 TET2 CD109 GP1BA ZBTB16 RARA GP1BB NABP1 WIPF1 STAT5B ITGB3 WAS STAT3 ETHE1 NUMA1 GATA1 RAB27A CASP10 FYB1 PRKAR1A SAMD9 FIP1L1 GNA14 OCLN NEU1 PML GP9 MPL FERMT3 USP18 BCOR CALR CLCN7 ITGA2 ETV6 ITGA2B FCGR2C JAK2 GBA TBL1XR1 APOE PEPD GFI1B IRF2BP2 HOXA11 HP_ECTODERMAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTODERMAL_DYSPLASIA IFT43 NECTIN1 TP63 EDAR EDA KRT85 EDARADD SMARCAD1 MBTPS2 EVC WNT10A IFT122 ATP6V1B2 PKP1 NFKBIA ORAI1 GJB6 HOXC13 WDR19 NECTIN4 WDR35 NLRP1 CDH3 KANSL1 KRT14 KRT74 IKBKG EVC2 HP_ANHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANHIDROSIS TP63 EDAR ERCC6 EDA SCN9A EDARADD NTRK1 RETREG1 NGLY1 ALPK1 NGF WNK1 PKP1 NFKBIA SPTLC2 BCS1L MBTPS2 KIF1A PERP FUCA1 ITPR2 COQ2 TRPV3 ERCC8 HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY ZMPSTE24 TP63 KDF1 TBX3 CHUK NFKBIA EDA IKBKG LMNA NTRK1 HP_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_LAXA SLC7A7 CLIP2 IFT43 RPS6KA3 SLC6A8 TBX15 GORAB PTDSS1 AEBP1 PITX2 SPINT2 ZNF469 GGCX NBAS ATP6V0A2 SRD5A3 KRAS CD96 TWIST2 NAA10 ALDH18A1 HRAS PYCR1 SLC2A10 EED ELN SUZ12 MLXIPL BRAF MRPS22 EFEMP2 FBN1 MRPS16 NDUFB11 FOXC1 ADAMTS2 RTL1 B4GALT7 MEGF8 MEG3 FIG4 B3GAT3 FBLN5 GTF2IRD1 DLK1 GTF2I HPGD GSN ATP6AP2 RIT1 KIAA0586 RFC2 WDR37 MAP2K1 SLC25A24 ANTXR1 PEX1 EZH2 BCL11B EXT1 LTBP4 TBL2 ATP6V1A B3GALT6 OSMR MAN1B1 DSE CEP55 XYLT1 GPX4 XYLT2 PLOD1 CSPP1 VAC14 BAZ1B LIMK1 FGFR2 NSD1 NEPRO CHST3 FGFR3 TRPS1 ABCC6 WDR19 RIN2 C1R ATP6V1E1 WDR35 COL3A1 CHST14 ATP7A FGF20 FLNA NPR2 NDUFB10 MAP2K2 HP_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBLE_SKIN SLC7A7 ALDH18A1 FGF10 B3GALT6 FGFR2 COL1A2 COL5A2 ATP7A AEBP1 DSE COL12A1 XYLT2 FGD1 KRAS PRDM5 FBLN5 SKI CHST14 COL1A1 PYCR1 KMT2C FLNA COL3A1 AKT3 SLC2A10 B4GALT7 BRAF PLOD1 GORAB TNXB C1S IARS1 C1R EXOC6B SLC39A13 FKBP14 PUF60 GBA B3GAT3 CHST3 TGFB2 FBN1 ANTXR1 ENPP1 MAP2K2 PAX2 ZNF469 TWIST2 RIT1 RIN2 SLC26A2 ABCC6 RAF1 FGFR3 MAP2K1 PDGFRB COL5A1 EHMT1 INSR YY1 PTPN11 ADAMTS2 HP_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHIDROSIS SDHD RSPO1 FOXP1 JAK2 MLX COL17A1 HPGD SDHB TMEM127 AIP CRLF1 COL6A1 WNK1 TERC RET CUL4B MPL EPAS1 VHL THPO RTEL1 KIF1A HNRNPK PHOX2B WNT10A HNF1A SCN9A GDNF DDC ELP1 BCL10 HNF4A SCN11A KRT1 TRPV3 TERT USB1 PLAA HEXB CDH23 GNA14 KRT17 PTPN22 RETREG1 SDHAF2 ABCC8 FH CLCF1 FLRT1 SLURP1 MAP2K2 KRT16 IKBKG SRSF2 IGHMBP2 MBTPS2 PARN TET2 ASCL1 IL12B ALDOB KRT9 CACNA1S MEN1 MAP2K1 DST TAT LAMB3 DSG1 PRNP LAMA3 TINF2 KRT6A NPM1 KLC2 MAX ASXL1 KRT14 SLCO2A1 DNMT3A GABRA3 MDH2 COL6A2 UCP2 GPR101 FUCA1 SERPINB7 CLCNKB KCNJ11 COL6A3 PERP ITGB4 SDHC JUP HINT1 NLRP3 KIF1B KCNA1 CTSB RUNX1 DLST SLC18A2 HLA-B SDHA LIFR H19 BRAF LAMC2 SLC12A3 KRT5 HMBS SLC25A11 EDN3 NOP10 KCNJ18 NGLY1 NF1 SPR IGF2 CTC1 SUCLG1 WRAP53 MALT1 NTRK1 KRT6B NHP2 CBL BIRC3 DKC1 TP53 HP_ECZEMATOID_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMATOID_DERMATITIS FOXP3 HPGD STAT3 FLG CYBB ZAP70 BTD NCF2 NCF1 SLCO2A1 CYBA HP_SOFT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_SKIN ABL1 MAN2B1 PIGQ TGFBR1 IARS1 KIF22 B3GALT6 SMAD3 TNXB ADAMTS2 EDA COL5A2 COL12A1 MTAP SPARC PAX2 COL1A1 ZNF469 COL1A2 KCNN3 C1R KCNH1 PRDM5 SON COL5A1 SLC2A10 MGP FKBP14 ATP6V1B2 ELN MLXIPL PLOD1 EFEMP2 ATP7A XYLT1 HP_BRUISING_SUSCEPTIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUISING_SUSCEPTIBILITY LYST ITGB3 NPM1 F7 MAT2A GP1BA COL5A2 FANCE ATP7A ZBTB16 AEBP1 FANCA GBA MAP2K1 TGFBR2 VWF NABP1 PRKG1 RUNX1 WIPF1 F8 STAT5B PRDM5 DTNBP1 FAS AIP WAS CHST14 STAT3 GNAS SLC2A10 TCIRG1 NFIX HPS4 FLNA MAPK1 ACTA2 COL1A2 COL1A1 F13A1 COL3A1 TGFBR1 SMAD4 PRKACA TNFSF11 B3GALT6 GATA1 PRKAR1A USP8 TNXB ADAMTS2 ATRX FKBP14 FBN1 KRT14 PML GP9 GSN SMAD3 PLEC SERPINF2 HBA2 FOXE3 BCOR ABCC6 PRKCD ELN MYH11 BLOC1S3 FANCC HBA1 TGFB3 ITGA2B KRT5 TBL1XR1 HPS6 F5 GFI1B F13B MYH9 MYLK GP1BB HPS1 SIK3 F2 CLCN7 ARMC5 DSE RARA CASP10 CDH23 F10 TBXA2R PTPN11 NUMA1 GGCX TNFRSF1A LMAN1 HPS5 BRAF PLOD1 MFAP5 P2RY12 PLAU ANKRD26 LOX FIP1L1 MPL SLC39A13 GATA2 JAK2 TET2 FANCD2 SLFN14 RASGRP1 MCFD2 MTAP TGFB2 ENPP1 ZNF469 HPS3 GP6 SCARB2 NBEAL2 RIN2 C1R PLOD3 C1S ATP7B COL5A1 NTRK1 ETV6 PDE11A SNX10 FCGR2C IRF2BP2 FASLG HP_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURPURA ITGB3 TREX1 CR2 PROC NPM1 TNFRSF13C TET2 TBX1 GP1BA CALR TERC ZBTB16 PROS1 NABP1 WIPF1 STAT5B COL5A2 CFHR1 COMT AIP WAS CHST14 STAT3 UFD1 ACP5 F13A1 RAB27A SBDS FYB1 GATA1 PRKAR1A SAMD9 SEC24C GNA14 TNFSF12 CD81 GBA OCLN NEU1 PML GP9 COL1A1 RREB1 FERMT3 ARL6IP6 USP18 BCOR PRTN3 ETHE1 IFNG ITGA2B HIRA TERT ORAI1 JAK2 TBL1XR1 APOE PEPD GFI1B F13B C2 GP1BB HOXA11 F2 USP8 CD109 RARA CFH ARVCF NLRP3 HLA-DPA1 TBXA2R NUMA1 GGCX ADA2 COL3A1 NFKB2 CTLA4 CASP10 MYD88 P2RY12 MS4A1 FIP1L1 TNFRSF13B MPL HLA-DPB1 PTPN22 GP6 STIM1 C4A NFKB1 PRF1 COL5A1 CD19 CLCN7 ITGA2 ETV6 MVK JMJD1C FCGR2C PRKCD IRF2BP2 TFR2 SH2B3 CFHR3 ICOS HP_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALLOR SDHD ACAT1 HMGCL IFT43 KIF23 MMADHC CASK TET2 CALR FANCE RAX2 FANCA SDHB HBA1 SPTB KCNQ2 HBG1 RET KLHL7 FANCI TSR2 SPTA1 EPB42 HBB RAG2 OPA1 PRPF4 EPAS1 RPS17 TCIRG1 HNF1A VHL CDH23 SLC19A2 RPL11 HNF4A RPS19 TNPO3 HBA2 GABRG2 TNFSF11 CACNA1H TMEM127 PIGA SDHAF2 ABCC8 FH ACO2 PUS1 SLC46A1 ADA2 RPL35A DHFR RPS10 PIEZO1 RAG1 MSTO1 RPL35 RPL15 RPS7 SCN1A ENG FANCC RPL31 WDR19 PTS SCN1B JAK2 GABRA1 SLC2A1 CDIN1 CLCN7 JRK MAX BMPR1A DNMT3A PCDH19 FBP1 MDH2 COL12A1 UCP2 SLC4A1 ALAS2 RPS24 GATA1 EPB41 AIP AGBL5 RPL26 MEN1 ANK1 KCNJ11 RPS26 G6PD RPS28 KLF1 TRNT1 SDHC HBG2 RPS29 RPL18 DLST MYD88 HEXA GABRB3 IKBKG FDXR SDHA STXBP1 GATA2 HGSNAT FANCD2 SLC25A11 CACNA1A SF3B1 NF1 MPL TMEM126A SCN2A RPL5 SMAD4 STEAP3 NRL KIF5A RPS27 SNX10 RPS15A MT-CYB ALS2 TMPRSS6 TTC8 SH2B3 PRPF6 LRAT KIF1B POMGNT1 RPL27 SCN9A HP_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_KERATODERMA RSPO1 ALOX12B ENPP1 CD28 LAMB3 DMD HPGD MBTPS2 DSG1 PSEN2 TRPM4 DSP PNPLA1 LDB3 ACTN2 RTEL1 HAND2 RAF1 SEC23B KRT1 PIK3CA TRPV3 GJB2 SMARCAD1 TERT LORICRIN KRT6B ALOXE3 SRD5A3 USF3 AQP5 DOLK KLLN COL17A1 KRT14 SDHA KRT9 CAP2 KRT5 MYH7 CAST ATP2A2 LAMA4 TXNRD2 GJB4 GJA1 ABCA12 MYH6 SLCO2A1 WNT10A ABCC9 KLHL24 DES GATAD1 TGM1 FKTN SERPINB7 SDHD CTLA4 SNAP29 AKT1 MYBPC3 TNNI3 MYPN FHL2 KRT10 TP63 SLURP1 KRT83 CYP4F22 CERS3 GJB6 LAMC2 KDSR PTEN CTC1 JUP WRAP53 NLRP1 NHP2 DSG2 ANKRD1 DKC1 MAP2K2 TNNC1 PPCS KRT2 PKP1 POMP SGCD GMPPA TERC TRAPPC11 SCN5A FGFR2 KRAS CARD14 BAG3 RHBDF2 COL14A1 TTN BRAF TAF1A CSTA USB1 KRT17 VCL CTSC PEPD TMPO LEMD3 KANK2 KRT16 KRT6C TNFRSF1B MAP2K1 PARN LAMA3 PRDM16 PSEN1 SDHC TAT FERMT1 GJB3 PLN AAAS TINF2 ITGB4 KRT6A NPM1 NEBL TCAP NIPAL4 MCOLN1 PERP TAZ CRYAB TNNT2 SDHB ACTC1 TPM1 NOP10 NEXN AAGAB SASH1 CSRP3 DSC2 RBM20 HP_SKIN_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_RASH NOD2 ZAP70 IL6 RFXAP LBR LYZ CD28 FCGR2A CYBA ERCC4 POMP IL2RG SPP1 MVK TREX1 SPTB MIF NAXD SLC6A19 SPTA1 EPB42 SPINK5 RAG2 PTPN22 TCF3 BTNL2 HLCS BTD SBDS DCLRE1C SDHB NLRP3 B2M BLNK ERCC2 RIPK1 PRF1 FGA OTULIN PSMB4 IL17RC LMBRD1 CDK10 DNAJC21 IKBKG COX4I2 ABCC6 PRTN3 RAG1 CD79B KIT ERCC3 TNFRSF1A STAT3 RFXANK GJB3 NLRC4 JAK3 TNFAIP3 LYST GJA1 NCF2 NCF1 IFNG IL17RA IGHM BTK IL1RN EFL1 RFX5 HLA-DPA1 ANK1 ERCC5 CTLA4 ACP5 IL17F AK2 NLRP12 ADA2 IGLL1 LACC1 GJB4 CASP10 SRP54 CIITA LRRC8A MEFV HLA-DRB1 TEK DNASE1L3 PSMB9 SDHC ENPP1 CYBB HLA-DPB1 FCGR2B PIK3R1 SMARCAD1 KDSR STAT4 SDHA SLC4A1 CLEC7A STX11 STING1 KRT5 IRAK1 CD79A LPIN2 BLM DNASE1 TNFRSF1B TRAF3IP2 PDGFRA APOA1 HP_PRURITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRURITUS MST1 ALOXE3 IL12A JAK2 CD28 LIG4 STX3 LBR MVK IL7R SULT2B1 DSP ABCB11 PNPLA1 NR1H4 ABCA12 ZNF341 SCN9A SPIB KIT MPL DSG4 GPC1 THPO RAG1 TGM1 SLC17A9 PDGFRA PTPN3 MMEL1 SCN11A EPHX1 ASPRV1 ABCB4 ALOX12B LIPN CDSN PEPD IL17RC SCN10A GSN MVD ABCC6 TNFRSF1B SRSF2 AQP5 LIPA TET2 ATP8B1 IL2RG ATP2A2 IL31RA STAT3 TJP2 GPR35 IL12RB1 CYP4F22 CHD7 GPNMB MC1R ASXL1 PLCG2 COL7A1 IL17RA OSMR MYO5B NIPAL4 RAG2 FLI1 POU2AF1 FECH CTLA4 IL17F PKHD1 TRPV3 RMRP CARD14 NLRP3 ADA RUNX1 PMVK FLG2 IRF5 TNPO3 TNFSF15 DNASE1L3 DCDC2 BAAT TRPM4 FH CCDC47 CERS3 NRAS ENPP1 CLEC7A ATP7B CBL FDPS HLA-DRA TCF4 HSD3B7 TRAF3IP2 EPOR CYP7B1 SDR9C7 DCLRE1C PKP1 HP_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHOMATOSIS ABCA1 SLC37A4 CYP27A1 ABCG8 PCSK9 G6PC SMPD1 APOE LMNA APOB LDLRAP1 GHR ABCG5 PPARG TTPA LDLR GPC1 APOA2 LPL LIPC APOA5 FGFR1 APOA1 EPHX2 KRAS APOC2 PPP1R17 HP_CUTANEOUS_PHOTOSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_PHOTOSENSITIVITY UROD MVK CPOX FCGR2A ERCC3 ERCC4 RNF113A ERCC6 DDB2 NHLRC1 TREX1 SLC6A19 CARMIL2 PTPN22 IFIH1 XPC MKRN3 SNORD115-1 HFE EPM2A SLC17A9 ERCC2 FDFT1 KRT1 LIG4 DDX6 ERCC5 ABCB6 UROS GTF2E2 SYNGAP1 NCF2 PEPD CLPX DHCR7 MVD PPOX POLH PRICKLE1 TARS1 FERMT1 RORB GJB3 BLM RECQL4 GTF2H5 ALAS2 CYBC1 NSUN2 LYST PCNA GJA1 ERCC8 GATA1 PWRN1 SCARB2 CYBB CTLA4 HERC2 CYBA UVSSA XPA NDN CHD2 PWAR1 NCF1 GJB4 PMVK COL7A1 KRT10 NBN XRCC4 MPLKIP SAMHD1 FCGR2B KDSR C4A MAGEL2 TP63 FECH CSTB NPAP1 FDPS DNASE1 NCF4 ERCC1 SNORD116-1 SNRPN HP_MOLLUSCOID_PSEUDOTUMORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLLUSCOID_PSEUDOTUMORS COL3A1 COL5A2 COL1A1 ZNF469 PLOD1 COL5A1 HP_MELANOCYTIC_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOCYTIC_NEVUS PDE4D MC1R A2ML1 ERCC3 TP63 ERCC2 SOS1 RAF1 SUZ12 OCA2 RRAS2 NRAS RASA2 FGFR2 FGFR3 SDHD XPC DDB2 TNFRSF11B PIK3CA AKT1 SEC23B HRAS MPL SUFU RRAS XPA EED TYR SDHB ERCC5 PTCH1 PTPN11 RIT1 TNFRSF11A CHRNA7 RBM28 USF3 LZTR1 KRAS PTEN PRKAR1A ERF KLLN ERCC4 COL3A1 MRAS SMARCAL1 PTCH2 IGF2 FKBP10 CBL CDH3 SDHC BRAF HPS1 SOS2 HP_FACIAL_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CAPILLARY_HEMANGIOMA RECQL4 ESCO2 GLI3 DHCR7 CD96 MGAT2 OFD1 HP_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRICHOSIS KCNMA1 KDM1A HSPA9 KIT INSR NDUFA4 PPARG NDUFA13 CDH11 SURF1 SMPD4 VPS37A XYLT1 KCNH1 SUZ12 ABCC9 TWIST2 TRMT10A SPATA5 KMT2A PAX3 USP9X PHF8 ASXL3 FLII ARID1B MAPK1 ASXL1 MT-ND1 VPS33A NANS NDUFA10 SNAI2 SMC1A IDS CKAP2L RAI1 LEMD3 ZNF711 FGFR1 NDUFA12 HDAC8 SLC29A3 PSMB8 PET100 SRD5A3 ARID1A NEU1 SETBP1 NSUN2 SMCHD1 SDHA MT-CO1 RAD21 TBCK TAF1 BSCL2 MT-TS2 PDHA1 BPTF MED13 B3GLCT CDKL5 GJB4 EDN3 PIK3CD MT-ND5 CDON DEAF1 SNX14 SOX10 COX5A GPR101 ALG9 KNL1 PIGN SETD5 PACS2 ERLIN2 RUSC2 PPP1R15B MT-ND6 ATP6V1B2 CDH2 KCNK4 SMARCB1 TUBGCP2 BMP2 TTI2 TRIO SGSH KRT10 EHMT1 CHSY1 UROS DHX30 TMCO1 MT-TL1 FGF3 CCDC47 IQSEC2 CAVIN1 UBE2A NDUFS2 NDUFS8 KCNN3 MT-TH COG7 NDUFS1 FREM1 LIPT1 NFIX SMS NOTCH2 NAGLU ANKRD11 CERT1 NDUFA9 TLK2 MAP1B NDUFV1 MBD5 SMC3 MAB21L1 UQCC2 ZIC2 UROD SMARCA4 PHIP KIFBP PACS1 IGF1R NIPBL AIP DOCK7 CUL4B CHMP1A ECHS1 EDNRB TMEM94 FOXRED1 HMGA2 RNF125 MT-TF KLF13 NDUFAF3 UGDH NDUFS3 GNA14 CAV1 CHRNA7 SOX11 MT-CO3 MTFMT PSMD12 CTSC NDUFAF6 SLC1A4 ABCA5 MT-TQ CDK10 WAC CTCF TACO1 MITF POLR3A TRMT1 TRAIP ZBTB20 AGPAT2 ADAT3 COX15 BLM IL1RAPL1 NDUFV2 AMMECR1 GNS TAF6 NDUFS7 TRAPPC9 MAN2B1 RAB3GAP1 HFE NUS1 CDC42 SLC25A24 GATA1 SLC19A3 NDUFB8 FHL1 AFF4 TALDO1 LTBP3 NECTIN1 GLB1 FOS NDUFAF2 STAG1 TASP1 PUF60 MT-TW NDUFAF5 HGSNAT MT-ND4 HNRNPU GNE NDUFS4 UGP2 PIGU KNSTRN KLHL7 ARX CSNK2A1 EBF3 TP53 MT-CO2 NDUFA2 SPOP SCO2 RAB18 WNT4 PPOX CWF19L1 HP_PYODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYODERMA BTK LAMC2 IL10RA LAMA3 LAMB3 HP_ABNORMALITY_OF_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PIGMENTATION LYST NOD2 CD28 CYP11A1 CDKN1A BUB1B FANCE ERCC3 CXCR4 PRKAR1A TBX1 ADAR SUZ12 TINF2 MAP3K7 SLX4 BRCA1 FGFR1 TTC37 IRF5 GNAQ BTNL2 PAH FGFR3 XPC DDB2 RTEL1 NRAS ACP5 MT-ND1 CTNS HFE KDF1 KANSL1 CDKN2B CYP11B1 SOX10 RAB27A FGFR2 SLC45A2 LIG4 MAGEL2 C1S OCRL SEC24C SNRPN SLC29A3 KRAS PSMB8 TYR TSC2 PTEN USF3 FANCM CACNA1F CIB1 SEC23A ERF NDN MT-CO1 COL17A1 KRT14 BLOC1S3 FANCC PTCH2 SLC17A5 ATP2A2 SOS2 TSC1 JAK3 PDE4D EPG5 MITF GPNMB MT-ND5 ZMPSTE24 XRCC2 SOS1 GP1BB AIRE DSTYK POU2AF1 CTLA4 OCA2 HERC2 MT-ND6 TNFRSF11B NHP2 ATP6V1B2 MYO5A AKT1 UVSSA NF1 KIT SKIV2L POFUT1 PWAR1 HRAS ERCC1 KRT5 ERCC8 NBN KITLG TP63 APC EDNRB MPLKIP DNASE1L3 SNAI2 HGD HLA-DRB1 MT-TL1 BRAF PTPN11 GJB6 UBE2A LAMC2 NNT SMARCAL1 CTC1 INSR RDH11 SMS MRAS NPAP1 FKBP10 ATP7A BLM RAD51 CRIPT MC2R SEMA4A GALC TNFRSF1B NF2 NLRP1 DKC1 SNORD116-1 RECQL4 NOP10 LBR GMPPA TYRP1 AIP PCNT PAX3 TERC TRAPPC11 SLC6A19 PIGA NR0B1 DTNBP1 SPRED1 SPIB FANCD2 COMT HMGA2 MKRN3 SNORD115-1 AAAS PSAP SDHB MMEL1 EDN3 WDR73 MT-TF ERCC2 GNA11 ACTB PTCH1 USP8 IFNG BUB3 BLOC1S6 MT-CO3 CAT CTSC LEMD3 ACD UBE3A ABCD1 KCNN3 TWIST2 RIT1 KCNH1 PIK3CA MAP2K1 LAMA3 ERCC4 APOE NOTCH3 IL12RB1 GJB3 ST3GAL5 SLCO1B3 GTF2H5 NSUN2 ITGB4 NPM1 CDK4 BTK FERMT1 RPS27 NDUFB11 MSH6 CSTA SLC35A2 WRAP53 CYBB NSD1 ERCC5 TXNRD2 CLCN7 CHN1 CDKN2A TNFRSF1A SLCO1B1 RRAS CTNNB1 GJB4 MTOR SLC24A5 TNPO3 MT-TW LMNA SDHC TRIP13 MC1R FOXD3 ANTXR1 UBE2T HPS3 SDHA ERCC6 MT-ND4 DDX3X RAF1 HCCS MAD2L2 TERT KNSTRN IL7 HJV NCF4 PCSK1 COL7A1 PPOX POLA1 STK11 LAMB3 FLNA TCF4 TMC6 RNF113A LAMTOR2 SMO CAV1 CCR6 KIAA0319L FANCF RRAS2 RASA2 SPINK5 USP9X CASR UFD1 BAP1 AP3D1 DCLRE1C HPS4 MAPK1 KIF15 PARN TUBGCP6 SEC23B BUB1 FANCB ABCB6 C1R GNAS MRAP B4GALT7 GTF2E2 HAMP SRD5A3 NCF2 DNAJC21 POGZ VPS13B RREB1 IKBKG KLLN PALB2 RBM28 HIRA MT-TS2 CDH3 HPS6 GPR143 DST TUBB HPS1 CYBC1 SOX18 PIK3CD EDAR CDKN1B HSD3B2 TGM5 LIFR A2ML1 FANCI MAFB GPR101 MLH1 PIGN MFRP CPOX KDM6B SDHD SIM1 CYBA RAD51C PROS1 MMP2 SUFU NCF1 IDUA XPA TNFSF15 ANAPC1 SETD2 POT1 SLC40A1 UROS TNFRSF11A SASH1 MT-TH KDSR MGMT COL3A1 LRMDA JMJD1C CBL MAP2K2 PAX6 EDARADD UROD IL12A FANCA PTPN22 STAR CYP17A1 CDKN2C BRIP1 PANK2 PORCN ATP10A EED HBB EMC1 USB1 EDA APC2 CHRNA7 PROC AP3B1 SVBP MT-TQ POR GJA1 MEN1 LRBA BMP2 CBS POLH CEP57 IGF2 SALL4 PPP1CB TARS1 BANF1 PLCG2 COX7B MLPH GBA TMC8 TRAF6 ALAS2 GATA1 ARVCF BRCA2 PWRN1 KAT6A FAS CDH23 CCN2 CARD14 HPS5 MPL FANCL PDGFRB ANTXR2 HPGD LZTR1 RFWD3 EBP ALDH3A2 FANCG TERF2IP POMC IL6 DCPS MAPRE2 TFR2 MT-CO2 PDGFRA HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE PMM2 SOX18 ATP6V1A ERCC6 COL1A2 IGF1R FH ZMPSTE24 MEN1 SLC25A24 PTEN ALMS1 FGFR1 CDKN1B NAA10 TRMT10A PPP1R15B POLR3A INSR BSCL2 FBN1 CAV1 ATP6V1E1 PPARG PLIN1 AGPAT2 PRKACA PIK3CA SLC2A2 ERCC8 AKT1 KCNK9 SKI BMPR1A PTF1A TOP3A RBM28 TGFB1 PHGDH ATP6V0A2 LMNA COL1A1 TBL1XR1 ADAMTS2 HP_MULTIPLE_LENTIGINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LENTIGINES KRAS KITLG RAF1 MAP2K1 MAPK1 BRAF PRKAR1A STK11 PTPN11 MAP2K2 DSTYK HP_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHEDEMA GLA INPPL1 SOX18 ADAMTS3 VEGFC NAGA A2ML1 MAP2K1 CDC42 SOS1 RAF1 NLRP3 LBR SHANK3 RRAS2 PMM2 NRAS RASA2 BCL6 KRAS FAT4 FLT4 PTPN11 FOXC2 MAPK1 BCL2 ABCC9 BRAF HLA-DRB1 IKBKG RRAS RELN DNMT1 GUSB CDK5 GJC2 MPI CCBE1 GATA2 RIT1 LEMD3 ANTXR2 TSC1 TSC2 PIEZO1 PTEN EPHB4 LZTR1 CBL PIK3CA SLC35D1 ALG8 KIF7 MRAS DCHS1 KIF11 MAP2K2 AKT1 PTPN14 SOS2 HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS LYST VPS33B ANK1 RNASEH2B PEX11B GCLC CASK TCF4 CPOX PCK1 TPO ARL13B ATP7A NKX2-5 PEX5 CHRND NR1H4 PROS1 PRPS1 SEPTIN9 CCDC115 KCNQ2 SPTA1 EPB42 HBB COL5A2 GALM SAMHD1 SLC4A1 MMACHC GPI ACTC1 ELP1 MYH6 PEX6 CYB5A CHRNB1 PRSS2 RAB27A SLCO1B3 GABRG2 SFTPC TG NPC2 PRF1 PEX2 KRT18 GALE ACADVL ACVRL1 COL13A1 DUOX2 TBX19 SP110 CDKN2A OCLN ABCA3 PROC PIEZO1 SMPD1 HK1 ETFB VHL GSN RHAG COL1A1 LHX4 ABCC2 GALK1 SLC25A13 PKHD1 SCN2A DHFR RNU4ATAC IL18BP COX4I2 ABCB4 ABCD3 IL2RG AGRN GATA6 PALLD CLDN1 SYT2 SLC2A1 CDAN1 RPS6KA3 CHRNA1 PEX1 KCNQ3 PAX8 ADAR TSHB SPTB ALDOA ATP6AP1 PCDH19 PEX26 ATP8B1 CHRNE SCN4A PEX16 TSHR EPB41 FLI1 PEX13 POU2AF1 CTRC FUCA1 SLCO1B1 PSAT1 CASR PRSS1 SNAP25 DAXX G6PD PKLR GTPBP3 SCN8A GLRX5 PRKAG2 SLC5A7 AGXT CFTR DUOXA2 AKR1D1 TNFSF15 MMP21 SETD2 DCDC2 UGT1A1 PEX3 CITED2 CHAT POU1F1 CYP7B1 CYB5R3 ADAMTS13 ATRX COG7 SFTPB STX11 SLC44A1 ALDOB RNASEH2C COL5A1 BRCA2 ZIC3 GATA4 AMACR MVK MT-CYB HSD3B7 SLC5A5 TLL1 IFIH1 SLC18A3 PEX14 PROP1 AK9 TREX1 SPINK1 ETFA MUSK MST1 IL12A VAMP1 GYPC TP53 LBR ENG GJA1 PEX12 SLC25A1 SEC23B BPGM ABCB11 SLC25A3 HSD17B10 F5 TTC37 EIF2AK3 SPIB TBX20 ATP11C PALB2 VIPAS39 GPC1 SLC25A20 PEX19 CPA1 IYD PTPN3 MMEL1 DZIP1L SLC30A10 DGUOK JAG1 PRRT2 ETFDH ENPP1 APC2 POLG2 PAX3 ATP6AP2 PFKM PEX10 CTCF LIPA SCN1A ETHE1 RAPSN ZMPSTE24 SCN1B TPI1 PEPD GPR35 IL12RB1 TRHR MPV17 CDIN1 RBM10 TMEM260 LRP4 BRCA1 KRAS SERPINA1 RNASEH2A ABCC6 IER3IP1 SH2B3 HESX1 TFAM NSD1 RINT1 HNF1B JAK2 LHX3 HMGCL PRKAR1A PUS3 SLC26A4 KCNN4 NBAS DOK7 GALT MYO9A KRT8 STXBP1 IRF5 TNPO3 GABRA1 KMT2E DPAGT1 HBG2 PARS2 ATP7B TRMU NPC1 LPL SMAD4 HNF4A SPOP LMNA SCN9A HP_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIRSUTISM KDM6A CACNA1G SOX4 WDPCP MGAT2 LZTFL1 SUCLA2 PRKAR1A SMO CPOX KCNH1 ARID2 ALMS1 CAVIN1 ELMO2 KMT2A ARID1B IFT27 MAPK1 BSCL2 NANS CYP11B1 SMC1A CKAP2L OFD1 SRCAP PRKACA BBS1 TBC1D20 HDAC8 ADAMTS2 SOX6 TBX15 HSPG2 BBS10 ASXL1 LMNB2 PTEN KCNJ8 H6PD CAV1 TBCK SMARCD2 ABCC9 TUBB IDUA XYLT1 BCL11B HSD3B2 USP8 GPR101 ERCC6 SMARCE1 SETD5 MAP3K7 SMARCA4 FRMD4A KMT2D INSR MMP2 SKI GATA1 SMARCB1 PLAA SGSH C8orf37 MAP3K1 RAB18 RAB3GAP2 CNP BBS7 NRAS UBE2A TWIST2 KDSR AIMP2 RIN2 ARL6 LMNA NOTCH2 NAGLU FSHR MAP1B MBD5 DLK1 SMC3 MAB21L1 FLNA CNOT2 CYP19A1 NIPBL AIP PAPSS2 DPF2 EP300 FUT8 GNAS NFIX CEP290 CDK5 NR3C1 SOX11 SHROOM4 TRIM32 BBIP1 CTSC PEPD CCDC28B ABCA5 MKKS SMARCD1 BBS5 RPL10 WAC MEG3 POR CCBE1 BBS9 KCNAB2 PRDM16 IRF6 BBS4 POLR3A FGFR2 RTL1 SLC25A24 AKT1 GJB3 TWIST1 SETD2 BBS12 MMP14 MC1R GNS TBCD RAB3GAP1 GJA1 TAF6 ARMC5 ARX BMP15 IFT172 VPS33A GLI3 PPARG CDH23 TAF1 MKS1 CREBBP ADNP GUSB AFF4 WDR81 ARID1A AGPAT2 GJB4 NPHP1 GABRD TASP1 HGSNAT WNT4 SDCCAG8 SMARCC2 GNE TTC8 LRPPRC MAPRE2 RAD21 NKX6-2 ARSB RERE BBS2 HP_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA MST1 MT-ND1 PIGW LBR ENG PGAP3 NAGA ATM TMC6 ERCC3 EPHB4 DDB2 CAV1 CCR6 KIAA0319L SETX SMAD4 TERC TALDO1 MT-CO3 GDF2 PGAP2 ELMO2 IRF5 XPC ATR CTC1 COL3A1 RTEL1 SLC2A10 VPS53 MT-ND2 MT-ND4L NF1 SEC23B HFE ERCC2 PORCN PIK3CA POLD1 TERT USB1 SLC29A3 ERCC5 USP8 ACVRL1 GLA NDUFS2 NEU1 PTEN USF3 TREX1 CIB1 IKBKG ARL6IP6 ABCC6 KCNAB2 PRDM16 KLLN PIGY PARN BMP2 GNAQ LIG4 POLH STXBP1 SDHC HLA-DRB1 PEPD GPR35 BLM GNPTAB RECQL4 FRG1 SOX18 TINF2 CCM2 MT-ND5 NPM1 PCNA CYLD SLC37A4 FERMT1 ERCC6 TMC8 RNF168 LMX1B MRE11 SDHD CDH23 MT-CYB POLE DAXX SLC52A2 CCN2 WNT10A ACTA2 AKT1 UVSSA MASP1 XPA BMPR2 KIT SKI RNF213 ARX PIGV PIGO COL7A1 SDHB XRCC4 CTSA MT-ND4 PIGL GABRD MT-CO1 ANAPC1 LMNA NOP10 ANTXR2 ENPP1 ATRX MT-ATP6 STING1 ERCC4 WRAP53 NHP2 IL7 STN1 TCF4 MT-ND6 DKC1 RERE DPM1 PEX6 WRN HP_HYPOPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_SKIN LYST KIT TCF4 TYR TMC6 LAMTOR2 SMO CAV1 TBX1 CCR6 KIAA0319L ADAR MYO5A BRCA1 TTC37 IRF5 PAX3 BTNL2 PAH FGFR3 XPC DDB2 RTEL1 UFD1 ACP5 AP3D1 HPS4 SLX4 RAB27A SEC23B CTNS KANSL1 SNAI2 SOX10 PIK3CA FGFR2 MAGEL2 SLC45A2 TERT FANCB ABCB6 OCRL SEC24C SNRPN USF3 FANCM CACNA1F CIB1 RREB1 IKBKG ERF NDN KLLN PALB2 KRT14 BLOC1S3 HIRA SLC17A5 KRT5 HPS6 HRAS HPS1 TSC1 EPG5 MITF FANCI MAFB KITLG XRCC2 GP1BB AIRE PIGN SDHD SIM1 CTLA4 OCA2 HERC2 RAD51C AKT1 SKIV2L POFUT1 PWAR1 XPA EDNRB ANAPC1 SETD2 HLA-DRB1 FANCE SASH1 NRAS UBE2A PTEN CTC1 SMS WRAP53 LRMDA NHP2 NPAP1 JMJD1C ATP7A BLM RAD51 CRIPT GALC TNFRSF1B DKC1 SNORD116-1 RECQL4 CD28 TYRP1 ERCC3 PCNT TP63 PTPN22 TERC SLC6A19 DTNBP1 FANCD2 COMT TSC2 MKRN3 SNORD115-1 PSAP EDN3 WDR73 BRIP1 ATP10A USB1 ERCC5 UROS IFNG BLOC1S6 APC2 CTSC LEMD3 AP3B1 UBE3A PARN CBS POLH ERCC4 SDHC APOE SALL4 FANCF MC1R KRAS TINF2 NPM1 COX7B MLPH BTK FERMT1 ERCC2 TMC8 ARVCF NDUFB11 BRCA2 PWRN1 SLC35A2 FAS NSD1 CLCN7 FANCC CHN1 CCN2 HPS5 CTNNB1 SDHB MTOR SLC24A5 LMNA FANCL NOP10 ANTXR1 UBE2T RFWD3 HPS3 EBP FANCG POMC TWIST2 FANCA HCCS MAD2L2 DCPS IL7 PCSK1 PPOX HP_MULTIPLE_LIPOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LIPOMAS ZSWIM6 MT-TP CDKN1B CDKN1A FUZ ALX1 MEN1 FLCN PTEN FGFR1 LEMD3 SPRED1 MT-TK CDKN2C GNA11 MT-TS2 VANGL1 TBXT MT-TL1 KRAS ALX3 MT-ND5 PIK3CA AKT1 CCL2 APC CDKN2B BMPR1A VANGL2 ENPP1 MT-TQ ABCC6 MSTO1 MT-TF AP2S1 MT-TH MT-RNR1 MFN2 HP_ANGIOKERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOKERATOMA GLA NAGA GLB1 MANBA AGA FUCA1 HP_ANEMIC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIC_PALLOR FANCA SMAD4 ENG FANCC FANCD2 BMPR1A TET2 FANCE HP_ABNORMAL_PALMAR_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS UBR1 PUF60 APC SOX4 TCF4 NALCN DOK7 SMPD4 XYLT1 PEX5 IFT122 COX14 LONP1 FGFR3 ARID2 ATP6V0A2 FGD1 DOCK6 TPM2 GDF5 MTOR ARID1B PIEZO2 THOC2 TSEN15 VPS33A CKAP2L DIS3L2 CPLX1 NOG HDAC8 FLNA RPL10 KCNK9 NUP188 ZNF462 SEPSECS MEG3 DLK1 NSD2 ASXL1 TNNI2 RNU4ATAC WDR37 HNRNPK PEX13 VPS51 SEMA3E RPS6KA3 ADAMTSL1 PEX1 RPS23 B3GLCT TELO2 ATR BRF1 AUTS2 IGF1 LIFR DSE CEP55 GPR101 SMARCE1 MED12 SMC1A LMX1B TSEN2 PEX10 SETD5 CHD7 FOXP1 PEX6 SMARCA4 BMPR1B ATP6V1B2 CTCF MCTP2 TSEN54 GLE1 PLAA PEX19 HRAS SETBP1 VAC14 SMOC1 EHMT1 ANKRD11 SHOC2 NUP88 SMARCAD1 MYOD1 MSL3 BRAF GATA1 CDK19 NAA10 TRPS1 OFD1 PLOD3 MYH3 CHST14 YY1 MAP1B SMC3 MAP2K2 RAB11B PEX2 DPH1 VPS13B ITCH PPP2CA PEX14 NIPBL AIP DPF2 FGFR2 TWIST1 NBAS UBA1 SIN3A CHST3 KRAS TGDS NXN LETM1 EXTL3 BCOR DLX4 SPECC1L PEX11B CD96 MED25 SOX11 PEX26 RTL1 RBM10 PKDCC FIG4 PIGS PEPD PDHA1 CDK10 SMARCD1 DDX11 WAC KCNN3 CCBE1 KCNH1 PEX3 ESCO2 KMT2A MAP2K1 TFAP2A PNPLA6 IFT57 STXBP1 MTX2 EXT1 RAPSN PEX12 PEX16 EP300 CTBP1 SLC25A24 ATRX TCF12 ROR2 FGFRL1 G6PC3 CREBBP HDAC4 MAP3K7 ADNP TSEN34 SLC16A2 ARID1A B4GALT7 MUSK BMP4 TBX4 NECTIN1 KAT6B STAG1 SLC18A3 TASP1 AMACR BHLHA9 NGLY1 SLC39A13 SMARCC2 FGF9 DPAGT1 PORCN TBL1XR1 TNNT3 RIN2 RAD21 ASXL2 SMARCB1 CSGALNACT1 PACS1 UBE3B HP_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHRODERMA CHD7 GTF2H5 ALOXE3 IL7R CD28 LIG4 TGM1 ERCC3 RNF113A DSG1 SULT2B1 NIPAL4 RAG2 SPINK5 PNPLA1 ABCA12 LSS CD3E CTLA4 EXTL3 KIT RAG1 RMRP CARD14 GJB2 ERCC2 ADA KRT1 KRT10 ALOX12B MPLKIP CD247 EBP GTF2E2 LIPN CD3D MBTPS2 CYP4F22 AP1B1 MPDU1 CERS3 TNFRSF1B ADAM17 IL2RG DCLRE1C IL2RA TARS1 FOXP3 SDR9C7 HP_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBINISM DTNBP1 BLOC1S3 OCA2 LRMDA TYR AP3D1 HPS4 TYRP1 SLC45A2 HPS5 HPS6 AP3B1 EPG5 CACNA1F MITF MC1R HPS1 EDNRB HP_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URTICARIA SDHC IL12A PLCG2 ERCC4 FAS FOXP3 SPINK5 SF3B4 CASP10 SERPING1 HLA-DRB1 NLRP3 POU2AF1 WIPF1 PIGT CARMIL2 SPIB KIT ADGRE2 ERCC5 WAS HLA-DQB1 NLRP12 MMEL1 GJB6 SDHB ERCC2 MYD88 FASLG IRF5 TNPO3 TNFSF15 RASGRP1 MBTPS2 ALPK1 ANTXR2 CBS ALDH3A2 ELOVL4 PRKCD GJB2 ERCC3 RAC2 MVK NLRC4 IL12RB1 HP_SOFT_DOUGHY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_DOUGHY_SKIN IARS1 COL5A2 B3GALT6 SON ADAMTS2 COL5A1 SLC2A10 MGP COL1A1 COL1A2 XYLT1 HP_POIKILODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILODERMA ERCC6 ERCC5 RECQL4 ANAPC1 CD28 ERCC3 ERCC4 FAM111B DDB2 ERCC2 CTLA4 XPC POLH USB1 BLM XPA MTX2 TNFRSF1B FERMT1 COL7A1 HP_FRAGILE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_SKIN COL7A1 ITGA6 UROD B3GALT6 COL17A1 ITGB4 ADAMTS2 MMP1 PLEC EXPH5 HFE COL5A2 LAMC2 FERMT1 LAMA3 LAMB3 PKP1 CPOX COL1A1 COL1A2 DSP C1S JUP CHST14 PDGFRB COL5A1 ITGA3 COL3A1 PLOD1 PRKACA HP_SUBCUTANEOUS_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_LIPOMA CDKN1B AKT1 MEN1 PTEN FGFR1 BMPR1A PIK3CA HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES HOXD13 NOG LMX1B TPM2 IHH RBBP8 HP_HYPERMELANOTIC_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMELANOTIC_MACULE ST3GAL5 STK11 CYBC1 TINF2 GNAS GPNMB CDKN1B NPM1 GJA1 CDKN1A ERCC3 ERCC4 PRKAR1A ERCC2 MLH1 TERC BRAF DSTYK KRAS CYBB KDM6B KIT GNAQ CDKN2C FGFR3 XPC DDB2 RTEL1 CYBA ACP5 TNFRSF1A MAPK1 ERCC6 NF1 MMP2 RAF1 NCF1 XPA GJB4 ERCC1 TERT ACTB INSR USB1 C1S ERCC5 KITLG ABCB6 C1R CDKN2B NCF2 NOP10 PTPN11 MAP2K2 SVBP ERCC8 KDSR IL6 SMARCAL1 MEN1 CTC1 PIK3CA MAP2K1 WRAP53 PARN ATP2A2 ZMPSTE24 NHP2 NCF4 DKC1 GJB3 LMNA HP_PARAKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAKERATOSIS NIPAL4 CARD14 TGM1 FLG2 NLRP1 PIK3CA PMVK MBTPS2 POMP TRPV3 CLDN1 TRPM4 LORICRIN KRT13 CYP4F22 DSP SPINK5 NSDHL MVD IL36RN MVK RHBDF2 HP_FACIAL_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ERYTHEMA RHOH ADGRE2 RECQL4 AIP ANAPC1 USP8 KCNQ2 MBTPS2 HP_VITILIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITILIGO EMC1 KITLG MT-ND5 NBN MT-TW PLCG2 AIRE MT-CO3 CXCR4 CAT MT-TL1 POGZ FOXD3 PTPN22 MT-TQ MT-TH SLX4 DSTYK MT-ND4 FAS MT-CO1 LRBA ACP5 MT-ND6 DCLRE1C MT-ND1 MT-TS2 KANSL1 NLRP1 MT-TF MT-CO2 HP_INTERMITTENT_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_JAUNDICE SLCO1B1 KCNN4 ABCB11 ATP8B1 SLC4A1 RHAG SLCO1B3 SPTB PIEZO1 HP_ATOPIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATOPIC_DERMATITIS LRRC32 HSPA9 ZNF341 NEK9 FOXN1 IFIH1 RRAS2 IL6R BRAF SCNN1G DOCK8 SCNN1A SCNN1B JAK1 CARD11 MORC2 PGM3 HP_CAVERNOUS_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVERNOUS_HEMANGIOMA SDHB MTM1 TEK DNM2 BRAF GNPTAB USF3 SMAD4 NOTCH1 KRAS ENG HOXD13 PTEN MYF6 MTMR14 ACVRL1 KLLN SDHD RYR1 BIN1 MAP2K1 NRAS AKT1 SDHC SEC23B HRAS GDF2 PIK3CA MAP2K2 HP_SEBORRHEIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEBORRHEIC_DERMATITIS C5 TKT SEC24C HPGD TBX1 SLCO2A1 TMC6 TMC8 GP1BB CIB1 ARVCF RREB1 PIGA CARMIL2 COMT PIK3CA UFD1 TRAF3IP2 HIRA IL7 JMJD1C ZNF750 MCCC2 BTD RBM8A HP_HYPOPIGMENTED_SKIN_PATCHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_SKIN_PATCHES KIT TCF4 CD28 TBX1 TMC6 ERCC3 PAX3 SMO CAV1 CCR6 KIAA0319L PTPN22 TERC BRCA1 SLC6A19 IRF5 FANCD2 COMT FGFR3 XPC DDB2 RTEL1 UFD1 ACP5 SLX4 PSAP PCNT UBE2A SEC23B EDN3 BRIP1 SNAI2 SOX10 PIK3CA FGFR2 TERT FANCB USB1 ERCC5 ABCB6 SEC24C CTSC KRT14 USF3 FANCM CIB1 RREB1 IKBKG ERF KLLN PALB2 PARN HIRA ERCC4 KRT5 SDHC HLA-DRB1 SALL4 BLM FANCF TINF2 MC1R NPM1 COX7B FANCI BTK MAFB FERMT1 ERCC2 KITLG TMC8 XRCC2 GP1BB AIRE ARVCF NDUFB11 BRCA2 FAS SDHD CTLA4 FANCC CHN1 RAD51C CCN2 AKT1 XPA SDHB MTOR EDNRB FANCL NOP10 FANCE MITF ANTXR1 NRAS UBE2T RFWD3 EBP FANCG TWIST2 PTEN FANCA CTC1 HCCS MAD2L2 WRAP53 NHP2 IL7 JMJD1C RAD51 CRIPT GALC TNFRSF1B DKC1 HP_NUMEROUS_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_NEVI BRAF CDK4 KANSL1 PCGF2 HRAS NRAS PIK3CA FGFR3 HP_ERYSIPELAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYSIPELAS MEFV FAT4 FLT4 CCBE1 ADAMTS3 VEGFC TNFRSF1A FAM111B GJC2 KIF11 HP_MILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILIA COL7A1 KRT14 LAMB3 ITGB4 KRT5 LAMC2 SUFU CYLD OFD1 ITGA6 MMP1 SMARCAD1 LAMA3 COL17A1 PLEC PTCH1 PTCH2 FERMT1 PPOX HP_APLASIA_CUTIS_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA HSPA9 LAMB3 ITGB4 UBR1 DLL4 COL7A1 COX7B ARHGAP31 CTBP1 NOTCH1 NELFA PLEC LETM1 DSP FGFRL1 DOCK6 TAF1 ALX4 EOGT ATP6V1B2 LAMC2 MCTP2 BMS1 ITGA6 CPLX1 RBPJ MMP1 KRAS KCTD1 NSD2 LAMA3 COL17A1 TFAP2A MSX2 HP_POOR_WOUND_HEALING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_WOUND_HEALING CFH CFI USP8 CD46 NTRK1 GBA DDR2 COL1A2 COL12A1 COL1A1 RAC2 F8 C1R COL5A2 AIP SERPINE1 COL5A1 ITGB2 HELLPAR F13A1 NGF F13B PLOD1 HP_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTERYGIUM ITGA6 PLOD2 PHGDH IRF6 ERCC5 RAPSN LMX1B CHRNG MMP14 NOP10 ITGB4 SLC18A3 MYH3 NUP88 DOK7 MYOD1 CHRNA1 ERCC3 FKBP10 ERCC2 RIPK4 ERCC4 XPC DDB2 MMP2 GPC6 PLEC CHRND NHP2 BHLHA9 DKC1 PSAT1 MUSK EFNB1 XPA HP_AXILLARY_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXILLARY_PTERYGIUM ITGA6 MYH3 GPC6 CHRNG ITGB4 EFNB1 RIPK4 PLEC HP_ACNE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE FGFR2 LPIN2 ECM1 HPGD ERAP1 HSD3B2 TLR4 TBX1 SLCO2A1 AIP PAPSS2 GPR101 KDF1 GP1BB ARVCF SH3PXD2B CDH23 COMT RBP4 LHCGR MEFV UFD1 UBAC2 CCR1 ESR1 STAT4 PRKACA PSENEN NR3C1 PSTPIP1 HLA-B SEC24C USP8 NCSTN KLRC4 IL23R IL10 FAS IL12A WNT4 HYOU1 ENPP1 RREB1 PSEN1 POR H6PD ABCC6 IL12A-AS1 XIAP HIRA C4A JMJD1C MEIS2 AGA XYLT1 HP_ACROCYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROCYANOSIS TREX1 RNASEH2B ADAR COL5A2 SAMHD1 ELP1 RNASEH2C ETHE1 TCF4 COL5A1 MVK RNASEH2A RPS6KA3 PAX3 COL1A1 AGXT IFIH1 SEPTIN9 FUCA1 HP_STRIAE_DISTENSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIAE_DISTENSAE DLG4 SMAD3 USP8 PDE8B TGFB2 ENPP1 COL1A1 PRKACA TGFBR2 PRKAR1A ABCC6 COL5A2 AIP GNAS COL5A1 FBN1 PDE11A CUL4B TP53 TGFBR1 HP_NEUROFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBROMAS SDHC NF1 SPRED1 BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 KIT PDGFB SDHB SMO HP_EPISODIC_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERHIDROSIS SDHD TMEM127 SDHA ELP1 MAX SLC25A11 DNMT3A RETREG1 SDHAF2 FH MDH2 SDHB NF1 VHL WNK1 RET EPAS1 KIF1A ALDOB SDHC SCN9A DLST KIF1B HP_MOTTLED_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTTLED_PIGMENTATION ZMPSTE24 HPGD RDH11 RECQL4 LMNA KRT5 HP_THICKENED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_SKIN LIPN NOD2 AP1B1 CD28 DSG4 ANOS1 PPARG DMD MVK VEGFC ELOVL4 DSG1 PSEN2 COL6A1 DSP PEX19 PNPLA1 ABCC9 LMNA PAH FLT4 XPC DDB2 RTEL1 PROKR2 HAND2 ERCC3 KRT10 GJB2 RAF1 ATP2A2 KANSL1 KRT5 SUMF1 IL17RD SMARCAD1 FGFR2 SLC45A2 AKT1 ASPRV1 ALOX12B ADAMTS2 SLC29A3 PSMB8 PEX1 KRT6B TYR ALOXE3 MPDU1 NSDHL USF3 COL1A1 PEX10 MVD RNU4ATAC ERF DOLK COL17A1 KRT14 POGLUT1 FHL1 BSCL2 CLDN1 LSS CAP2 MYH7 NECTIN1 CARD14 LAMB3 CYP4F22 DIP2B CHD7 TXNRD2 LAMA3 FBN1 DDR2 WNT10A PSAT1 RAG2 GATAD1 FUCA1 HESX1 HSD11B1 SERPINB7 CTLA4 COL6A3 PEX13 RMRP MYBPC3 TNNI3 FITM2 FGF8 ADA POFUT1 MYPN HRAS KRT86 COL12A1 FHL2 KITLG TP63 FLG NLRP1 FLG2 MPLKIP PMVK SLURP1 MBTPS2 KRT83 GJC2 STS TRPM4 BRAF CERS3 GJB6 LAMC2 TRPV3 KRT1 ADAMTSL2 TGM1 CTC1 INSR DCLRE1C PDGFB ALMS1 GPR101 FDPS ST14 EBP DSG2 KRT13 TNFRSF1B ANKRD1 TRAF3IP2 DKC1 PEX11B WRN KRT2 PKP1 LARP7 PEX12 RECQL4 LBR GMPPA DCC AIP CIDEC SPINK5 TERC TRAPPC11 ABCA12 PEX7 SEMA3A PIGA CARMIL2 KIT BAG3 VIPAS39 RAG1 AAAS USB1 ANAPC1 SLC17A9 COL14A1 TTN TAF1A CSTA POLD1 PSENEN PEX6 ATP2C1 PKDCC ERMARD VCL HDAC6 TRIP4 NLRP3 CTSC GLA PEPD TMPO LEMD3 PIGL KANK2 HPGD DDX58 ITGB4 IL36RN WDR11 FGFR3 KRT6C RIT1 AP1S1 MAP2K1 POLR3A ORAI1 ERCC2 AHSG GBA TAT GJB3 GNPTAB PLN GTF2E2 NSMF GTF2H5 NPM1 TCAP COL7A1 IDUA FERMT1 IL1RN NIPAL4 SERPINB8 PTEN ATP7A KRT9 KRT16 IL17F POMP GJA1 PERP FGFR1 TAZ TACR3 NOTCH2 GJB4 TNNT2 SDHB FOS PDGFRB ACTC1 SLC12A3 TPM1 NOP10 PLEC ITGB6 LORICRIN NRAS NDNF KRT81 KDSR ERCC4 AAGAB LTBP3 RYR1 CSRP3 TERT NAGA PHYH TMPRSS6 STIM1 KRT6A PCSK1 KISS1R SDR9C7 PPOX POLA1 VPS33B RSPO1 ENPP1 SLC27A4 ECM1 IL7R RNF113A SULT2B1 TMEM43 ARSL LDB3 CAVIN1 SH3PXD2B ELMO2 TARS1 FGF17 COG6 NECTIN4 PEX5 ACTN2 SBDS VPS33A ESR1 SEC23B PLIN1 SGPL1 PIK3CA FEZF1 SRD5A3 DNAJC21 IKBKG CAV1 ZMPSTE24 ADAM10 AQP5 KLLN SDHA IL2RG CDH3 COL6A2 PEX14 TUBB CAST RHBDF2 LAMA4 LIPE PHGDH SOX18 TGM5 MYH6 SLCO2A1 ADAMTS10 NEK9 KLHL24 KDF1 SMAD4 DES FKTN LTBP2 CLCNKB SDHD SNAP29 PEX26 ZNF750 MMP2 XPA EMD SRP54 ABHD5 SHOC2 UROS PSMB9 SYNE2 MSMO1 CLEC7A JUP WRAP53 KRT17 HS6ST1 NHP2 CCDC141 ATL3 MAP2K2 TNNC1 PPCS UROD LIG4 SGCD CYP19A1 SREBF1 SCN5A CUL4B CHKB IL2RB KRAS GINS1 ALDH3A2 NF1 ERCC5 FKBP14 AKT2 PSMB4 IL17RC PARN PEX16 NEU1 ELOVL1 PRDM16 KIF11 PSEN1 MTX2 SDHC AGPAT2 TTC7A TINF2 GLS EXPH5 NEBL HFE IL17RA XRCC4 EFL1 GATA1 SOX10 MCOLN1 PEX3 COL4A5 NSMCE2 CRYAB AFF4 FLRT3 DUSP6 SPRY4 GRHL2 ANTXR2 NEXN PROK2 POMC SASH1 DSC2 RIN2 MAPRE2 ZC4H2 SYNE1 HLA-DRA PEX2 RBM20 MC4R HP_CIGARETTE_PAPER_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIGARETTE_PAPER_SCARS CTSC COL3A1 COL5A2 COL1A1 SLC39A13 COL5A1 HP_ATROPHIC_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHIC_SCARS COL7A1 KRT14 LAMB3 ITGB4 LAMC2 COL5A2 AEBP1 DSE CARMIL2 COL1A1 COL1A2 COL3A1 B4GALT7 KRT5 B3GALT6 ITGA6 C1S C1R SMAD3 SLC39A13 FKBP14 MMP1 CTSC LAMA3 COL17A1 COL5A1 CHST14 PLEC DST PLOD1 HP_BILIARY_TRACT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_ABNORMALITY CLCA4 RPGRIP1L CIITA MST1 IL12A STK11 RFXAP CC2D2A ARSA PEX5 GBA HNF1B TMEM67 DCTN4 MKS1 FCGR2A FARSB GCGR RFX6 BCS1L RFXANK NPHP3 SPIB USP9X LETM1 GPC1 LMNA STX1A RFX5 POLG PTPN3 MMEL1 DZIP1L BBS1 JAG1 CPLX1 ITCH AKR1D1 CCDC28B NSD2 HFE ABCC2 IL36RN PKHD1 PEX2 ERCC4 ABCB4 ESCO2 KIF3B LONP1 TTC7A PEX1 DCDC2 GPR35 IL12RB1 HSD17B4 B3GLCT LMBRD1 RNF43 INPP5E CTBP1 CFTR POU2AF1 GATA6 TGFB1 FGFRL1 CEP290 IL21R CD40LG LBR IRF5 TNPO3 TNFSF15 TMEM216 UGT1A1 AMACR PSAP SCARB2 ARL6 WDR35 ZIC3 CLDN1 TCF4 HSD3B7 PHKG2 CYP7B1 HP_CHOLELITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLELITHIASIS ANK1 CLIP2 ALAS2 MST1 GYPC TBL2 SMPD1 SPTB CYP7A1 ALDOA DMPK TBX1 SLC4A1 SEC23B SCNN1A BPGM SMAD4 GP1BB EPB41 ARVCF GCGR FECH SPTA1 EPB42 ACVRL1 HBB COMT ABCB11 PKHD1 PKLR UFD1 GPI ABCG8 MED25 BAZ1B LIMK1 ABCB4 ELN SEC24C UROS GBA AIRE PIEZO1 HK1 GTF2IRD1 GTF2I CCDC47 UQCRFS1 BLVRA ENG PFKM RREB1 RFC2 CYP27A1 HIRA JMJD1C SCNN1G SCNN1B KCNN4 TPI1 TCF4 GPR35 GDF2 GNE PEX19 HP_CHOLECYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLECYSTITIS ABCB4 ATP8B1 ARSA ALDOA HK1 PSAP BPGM SMAD4 NR1H4 ABCB11 ENG F5 ACVRL1 JAK2 PKLR PNPLA2 GPI MECP2 TPI1 GDF2 HP_ECTOPIA_LENTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_LENTIS P3H2 FBN1 COL2A1 SF3B1 ADAMTS10 GNAQ HSPG2 FBN2 MOCS1 NDP BAP1 LTBP2 ADAMTSL4 CYSLTR2 PORCN TAPBP FOXE3 ASPH B3GALT6 EXOC6B COL11A1 ADAMTS17 SALL2 CPAMD8 CBS PAX2 COL18A1 GNA11 MOCS2 AASS TAP1 BCOR LOXL1 COL5A1 C12orf57 SUOX CHRDL1 TAP2 HP_PAPILLEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLEDEMA APC MMP14 TRAF7 TERT DOCK3 FAM111A DDX6 RLIM NF2 SMARCE1 BPTF NLRP3 PDGFB KMT2E ZIC1 MYT1L MMP2 IDS PSMD12 TRMT1 TP53 ACTL6B BCORL1 FBXW11 CTNNB1 SVBP AKT1 MED13 GBA NTNG1 TCF20 IL11RA UQCRFS1 BRAF SOST VHL ACTL6A TANC2 BAP1 SUFU PIK3CA WDFY3 ZMIZ1 TRAPPC4 SMARCB1 SMO HP_DEVELOPMENTAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_GLAUCOMA RNASEH2B POMT2 ADAR FKTN FOXC1 CANT1 CYP1B1 PAX6 PITX2 RNASEH2A PXDN LTBP2 NCAPG2 FOXE3 RPS24 GATA1 TSR2 RPL26 DAG1 SAMHD1 RPS26 RPS28 FUT8 RPS17 FLNA TWIST1 RPL11 RPS19 RPS29 RPL18 GNAQ OCRL GLIS3 B3GAT3 CHST3 TREX1 POMT1 SH3PXD2B ADA2 FGFR2 RPL5 RPL35A PTEN RPS10 RPL35 RPL15 RPS7 RNASEH2C ATOH7 RPL31 RPS27 RPS15A MAFA FKRP ADAMTSL1 TEK MAB21L1 SRY IFIH1 AKT1 LARGE1 POMGNT1 PYCR1 RPL27 HP_BRUSHFIELD_SPOTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUSHFIELD_SPOTS PEX11B PEX2 PEX1 PEX3 PEX5 PEX19 PEX16 PEX26 PEX12 GATA1 PEX6 PEX13 PEX14 PEX10 HP_IRIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_ATROPHY ZEB2 COQ2 LRP5 ASPH OVOL2 HP_ABNORMALLY_LARGE_GLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LARGE_GLOBE POMT2 FKTN ATR OCRL CPSF1 GLIS3 KCNJ6 FGFR2 CYP1B1 CHSY1 LRPAP1 B3GAT3 CHST3 POMT1 PXDN SH3PXD2B NCAPG2 PIK3R2 ALKBH8 PIGV PTEN KCNJ1 DAG1 ATOH7 FUT8 TWIST1 WDR26 FBN1 POMK ARX FKRP ADAMTSL1 MAB21L1 GNAQ AKT1 LARGE1 POMGNT1 CASK HP_ABSENT_LACRIMAL_PUNCTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_LACRIMAL_PUNCTUM TP63 FGF10 FGFR3 UBR1 FGFR2 HP_OPTIC_NERVE_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_DYSPLASIA B4GAT1 PEX5 BRAF CPAMD8 PAX2 PEX2 HP_IRIDOCYCLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDOCYCLITIS NOD2 CD247 PTPN22 STUB1 PTPN2 IL2RB HLA-DRB1 STAT4 IL2RA ANKRD55 AIRE HP_KERATOCONJUNCTIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOCONJUNCTIVITIS B2M NOD2 GTF2H5 MEFV HLA-B NLRP1 MPLKIP ERAP1 LBR TLR4 KLRC4 GTF2E2 IL23R UROS AIRE IL10 HLA-DRB1 ERCC3 RNF113A FAS ERCC6 IARS2 IL12A AEBP1 SREBF1 GSN ERCC8 ERCC2 GATA1 HLCS BTNL2 IL12A-AS1 MTTP UBAC2 C4A SCN9A CCR1 RNF125 GJB2 TARS1 FOXE3 MAB21L1 STAT4 HP_HETEROCHROMIA_IRIDIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROCHROMIA_IRIDIS KIT LMX1B EDNRB SNAI2 ACTG1 MAFB PAX3 MITF KITLG SOX10 MC1R OCA2 PTEN ACTB PNPLA6 GNAQ CHN1 ELP1 EDN3 SALL4 AKT1 HP_ANGIOID_STREAKS_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOID_STREAKS_OF_THE_FUNDUS AKT1 ABCC6 GALNT3 ENPP1 GGCX TNFRSF11B XYLT1 XYLT2 PTEN PIK3CA HP_ABNORMAL_MACULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACULAR_MORPHOLOGY LYST CLDN19 KIAA1549 SPG11 CFH AP3D1 PDE6H GUCY2D PAX6 FBLN1 TYR CDH3 RNF113A MAPKAPK3 RLBP1 TNFRSF11B RAB28 NDP PRPS1 ATXN7 RD3 RAX2 OPN1MW ARHGEF18 MMACHC PRPH2 HPS4 HMX1 ABCC6 IMPG1 WT1 SLC45A2 NMNAT1 ABCA4 MT-TK GTF2E2 PITPNM3 MT-TE NEU1 PRPF31 CACNA1F KCNV2 DHDDS HLA-A ELOVL4 BLOC1S3 C8orf37 HPS6 CNGA3 ASAH1 AIPL1 PROM1 EPG5 EDN3 FZD4 SYCE1 TIMP3 SOX10 HMCN1 LRP5 RPGRIP1 CNGB3 POMGNT1 MFRP CST3 MFSD8 COL18A1 OCA2 IMPG2 COG1 MYO5A CHST6 GUCA1A XYLT2 SAG TREX1 CTNNA1 SCAPER FOXE3 AGXT DHX38 GRK1 MPLKIP SIX6 DRAM2 CFHR1 TRIM44 APOE GDF3 GNAT2 MAF PRPF8 TTC8 SEMA4A NF2 VPS13B RP1L1 RHO ANO10 HK1 ERCC3 FOXC1 RDH5 PCYT1A BBS5 CNGB1 CEP78 EDNRB FBLN5 RBP4 ALDH3A2 PDE6G IDS CFHR3 CRX ZFYVE26 SMPD1 PDE6C ENPP1 MT-TL1 SLC24A5 OPN1LW GUCA1B RS1 MITF ATF6 WDR19 ERCC2 ARL2BP TARS1 CLN3 MC1R SLC38A8 ARL3 GTF2H5 APC RIMS1 PEX1 RP9 OAT IDH3A RPGR PPT1 XYLT1 FBN2 SH3BP2 GBA IFT140 PRCD GDF6 MERTK BEST1 MPDZ NR2E3 TRNT1 ADAR HPS5 IKBKG NOD2 PAX2 VHL CCNQ CFI PLK4 NRL UGP2 GPR143 REEP6 TRAF3IP1 CP TMCO1 DPM1 HP_MACULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_HYPOPLASIA LYST HMX1 SLC45A2 HPS6 COL18A1 FOXE3 MAF MPDZ HP_RETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ATROPHY KIAA1549 FKTN LAMA1 RHO PDE6H GUCY2D HK1 ERCC6 RAX2 MAPKAPK3 TNFRSF11B RDH5 PROM1 ALMS1 RPGR CEP78 KMT2E RBP4 MYT1L ALDH3A2 TUB PRPH2 VCAN TRMT1 CFHR3 ACTL6B STUB1 CRX FBXW11 TOPORS GUCA1A PDE6C SVBP SLC7A14 MED13 RLBP1 PRPF31 CTSD KCNV2 POMT2 RS1 ACTL6A TANC2 HLA-A ABCA4 ELOVL4 ATF6 C8orf37 WDR19 BEST1 ARL2BP CNGA3 LARGE1 AIPL1 DOCK3 DDX6 RLIM RP9 IDH3A HMCN1 SH3BP2 GBA IFT140 BPTF ERCC8 MERTK MIR204 CNGB3 RDH11 MFRP TRNT1 PSMD12 DHX38 ARSG BCORL1 SIX6 HGSNAT DRAM2 CFHR1 NTNG1 TCF20 POMT1 APOE GNAT2 CFI PLK4 IMPDH1 NRL WDFY3 FKRP REEP6 ZMIZ1 TRAPPC4 SNRNP200 POMGNT1 HP_OCULAR_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ALBINISM LYST DTNBP1 KCNAB2 PRDM16 SOX10 BLOC1S3 GABRD BLOC1S6 AP3D1 TYR GPR143 HPS4 HPS5 HPS6 AP3B1 SKI EPG5 RERE SLC45A2 HPS1 HP_LEBER_OPTIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEBER_OPTIC_ATROPHY MT-ND6 MT-ATP6 MT-ND1 MT-ND4L MT-ND5 MT-CO3 MT-CYB MT-ND2 MT-ND4 PRICKLE3 HP_XANTHELASMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHELASMA SLC37A4 TTPA CYP27A1 LDLR GPC1 APOA2 G6PC APOE LPL APOB EPHX2 PCSK9 GHR PPP1R17 HP_POSTERIOR_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_POLAR_CATARACT VIM PITX3 APC CRYAB EPHA2 ITM2B BBS2 ZBTB20 HP_MACULAR_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_COLOBOMA NMNAT1 CLDN19 MMACHC PRPS1 DHX38 HP_SUDDEN_LOSS_OF_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY CDH23 MEN1 BRAF CTNNB1 AIP HP_JUVENILE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_CATARACT RDH11 ANAPC1 NACC1 ADNP FAR1 RECQL4 TGM3 LEMD2 HP_ABNORMALITY_OF_CORNEAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_SIZE KCNMA1 CLIP2 FKTN SALL4 FKRP PAX6 FOXL2 RNF113A ERCC6 CRYAA NHS KDM6A BCOR FGD1 CRYBA4 CHST14 RPGRIP1 PYCR1 FLII TUBB MAPRE2 HMX1 LARGE1 RXYLT1 CEP55 TEK RAI1 B3GALT6 CDH11 HMGB3 TBC1D20 HDAC8 GTF2E2 TBX15 ZEB2 GTF2IRD1 HSPG2 GTF2I PIK3R1 NSD2 NAA10 POMT2 RSPO2 RFC2 ATOH7 PRDM5 ANK1 POMT1 GJA8 CRPPA B3GALNT2 B9D1 TMEM107 TBL2 TFAP2A BEST1 DEAF1 MAFB COL11A1 SMC1A NELFA SETD5 POMK MKS1 FOXE3 RAB18 RAB3GAP2 LIMK1 MPLKIP MIR184 IQSEC2 CRYGC ADAMTS18 MAF LTBP2 PITX2 CEP290 CRYBB2 CRYBB1 MT-CYB TBX22 SMC3 CTDP1 KIFBP PPP2CA NIPBL ERCC3 TMEM216 PXDN GNPTAB OTX2 MAB21L2 POMGNT1 TMEM231 LETM1 COL4A1 MED25 RBP4 ARL2 CRYGD EBP ERCC2 FBN1 JAG1 GMPPB GJA1 CC2D2A TCTN2 FKBP14 KRAS ACTG1 BMP4 SC5D FANCB CTCF SLC16A12 RAB23 ACTB B9D2 KMT2A PITX3 FGFR2 B3GLCT TARS1 CHRDL1 CENPF RECQL4 GTF2H5 UBE3B RAB3GAP1 WNT3 ERCC8 PRSS56 WDPCP TINF2 FLI1 TMEM67 CHN1 KMT2D RPGRIP1L CSPP1 PLOD1 FGF3 GORAB TENM3 BAZ1B ELN LMX1B DAG1 PLK4 TBL1XR1 POMGNT2 RAD21 B4GAT1 KIF11 HP_VISUAL_FIELD_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIELD_DEFECT RLBP1 JAK2 DNM1L CACNA2D4 PDE6H GUCY2D PDE6G MT-TS2 MMP19 FDXR RAB28 PEX19 SMARCE1 MT-CO3 ALMS1 C1QTNF5 PMS2 KRAS ARHGEF18 RNU4ATAC PEX5 BTD THPO ROM1 PRPH2 VCAN CDH23 TCF12 CLRN1 MT-ND5 IMPG1 TOPORS MT-TF DLAT CTNNB1 FAN1 MYO7A SLC7A14 PTPN22 PEX1 ZNF513 CNGA1 ACO2 FGFR3 PRPF31 KCNV2 PEX10 MT-ND2 PRPF3 HLA-A ABCA4 ELOVL4 MSH6 KIF3B WHRN SETD5 C8orf37 GNAQ USH2A MT-ND6 BAP1 ARL6 HARS1 PEX14 TGFBR3 CNGA3 SMARCB1 EPCAM EYS MLH3 PROM1 AIPL1 RBP3 ADA2 TULP1 CRX MT-TC RP1 MT-TL1 USH1C CACNA1A PDGFB ADGRV1 AGBL5 CNGB3 MEN1 MFSD8 PEX13 COL3A1 MT-ND4L PEX26 POC1B IMPG2 RP2 NR2F1 POU3F4 MT-TV ATP1A2 TUBB2B MSX2 MT-ND4 MT-ATP6 AKT1 HGSNAT AIRE C12orf65 MT-CO2 CHM GNAT2 BBS2 CIB2 SPATA7 RHO MT-CO1 RPE65 MSH2 PRPF8 PCYT1A SEMA4A PEX11B MAK SMO USH1G MT-ND1 PEX12 TRAF7 TERT ZNF408 HK1 CYP4V2 MT-CYB RDH5 SOST FXN TGFBR2 IBA57 CNGB1 CERKL OPA1 COL4A1 KIZ MPL PDZD7 FA2H PDE6A IDS CFAP410 ITM2B PCDH15 MT-TQ PEX6 PDE6C CEP78 LRAT CLCN2 NDUFS2 SCN1A TREX1 MT-TW ANGPTL6 SUFU ATF6 PEX16 FLVCR1 COL18A1 OPA3 ASB10 MLH1 MT-TK ESPN ARL3 PIK3CA ZIC1 RP9 IDH3B OAT IDH3A RPGR NF2 SH3BP2 CYP1B1 RTN4IP1 BEST1 PMS1 TWIST1 AIP FAM161A RDH11 CACNA1F PEX3 ENG TRNT1 THSD1 RGR RPS20 BRAF TIMM8A TMEM126A MYOC MFN2 PRRT2 IMPDH1 CWC27 MTTP BMPR1A PEX2 ARSG HP_CRYPTOPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTOPHTHALMOS FREM2 TWIST2 FRAS1 GRIP1 FREM1 HP_CORNEAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_DYSTROPHY GLA TGFBI KRT12 EXOSC2 ZEB1 OSMR TACSTD2 CYP4V2 AGBL1 CRYBB1 GSN ZNF469 CRYAA CRYGC SLC4A11 SLC25A4 DCN PRDM5 PIKFYVE CRYBA4 MAF OPN1MW COL8A2 GJA8 OPN1LW AGK GNAQ CRYGD CRYBB2 TKFC CHST6 UBIAD1 MBTPS2 CHRDL1 HP_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_SUBLUXATION BAP1 GNAQ SALL2 P3H2 CYSLTR2 COL2A1 SF3B1 LOXL1 CHRDL1 CBS GNA11 HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD ARL3 AIPL1 RBP3 RHO PEX12 TULP1 CACNA2D4 ZNF408 GUCY2D HK1 PDE6G RP9 IDH3B CRX OAT C8orf37 IDH3A CYP4V2 RP1 RDH5 SH3BP2 PEX19 SOST CYP1B1 CNGB1 AGBL5 FAM161A CERKL RDH11 PROM1 CNGA1 PEX3 PRPH2 KIZ RNU4ATAC PEX5 ROM1 PEX13 PEX26 POC1B PDE6A IDS RP2 POU3F4 ABCA4 PEX6 DLAT RGR HGSNAT PEX1 AIRE ZNF513 LRAT RLBP1 PRPF31 CHM TMEM126A MYOC PEX10 BBS2 SPATA7 IMPDH1 KIF3B CWC27 PEX16 ALMS1 CLRN1 ARL6 RPE65 PRPF8 PEX2 PCYT1A PEX14 SEMA4A TIMM8A MT-ATP6 PEX11B EYS HP_CHORIORETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSTROPHY PNPLA6 UBE3B EP300 RNF216 VPS13B CREBBP HP_RETINAL_ARTERIOLAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIOLAR_TORTUOSITY BAZ1B CLIP2 LIMK1 ELN TBL2 FZD4 SEC24C TBX1 GTF2IRD1 GTF2I LRP5 GP1BB COL4A1 ARVCF RREB1 RFC2 COMT UFD1 HIRA JMJD1C MLXIPL NDP MT-ATP6 HP_ALTERNATING_ESOTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALTERNATING_ESOTROPIA APC PPP2R5D DPP6 COG8 SLC38A8 HP_OPTIC_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NEUROPATHY NDUFA11 NDUFS4 NDUFB9 PCSK9 NDUFAF1 NDUFAF4 SH3BP2 CYP1B1 NDUFS7 HLA-DRB1 ABCG5 MT-CYB TIMMDC1 NDUFAF2 TXN2 NDUFV1 FOXRED1 NDUFS6 BTD MT-ND4L NDUFA13 LDLRAP1 LDLR NDUFA1 TMEM126B AGXT MT-ND5 MT-ND3 NDUFAF5 ABCG8 NDUFS1 MT-ATP6 NDUFS8 NDUFAF3 MT-ND4 CLCN2 NDUFS3 GP1BA MYOC NDUFAF8 NDUFB11 MT-CO3 NDUFB3 NDUFB10 MT-ND2 C12orf65 NOTCH3 MT-ND1 NDUFA6 MT-ND6 NUBPL ATN1 TSFM NDUFV2 CISD2 APOB NDUFS2 HP_CHOROIDEREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDEREMIA IMPG2 UBE3B POU3F4 BEST1 CHM EPHA2 PRPH2 IMPG1 HP_LIMBAL_DERMOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMBAL_DERMOID KRAS AKT1 FGFR1 SALL1 DACT1 PTEN HP_SEVERELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERELY_REDUCED_VISUAL_ACUITY CNGB3 LRP5 RDH12 IQCB1 RPGRIP1 NHS AIPL1 SPATA7 KCNJ13 ZNF513 CHST6 LRAT RPE65 GUCY2D NMNAT1 CEP290 CACNA1F CRX IMPDH1 TULP1 RD3 ALG3 USP45 LCA5 NPHP4 GDF6 CRB1 PCYT1A IFT140 HPS1 HP_LENTICONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENTICONUS PRPH2 RDH5 RLBP1 COL4A5 RHO COL4A4 COL4A6 COL4A3 LAMB2 HP_ORBITAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORBITAL_CYST PTCH1 PTCH2 SUFU PAX2 BMP4 HP_RETINAL_EXUDATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_EXUDATE FZD4 LRP5 TINF2 TREX1 TSPAN12 CTC1 NDP HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT ATXN1 RFC1 POLR3B ATXN3 EEF2 ATXN2 STXBP1 HP_SACCADIC_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_SMOOTH_PURSUIT TMEM240 SPG11 CACNA1A GJB1 ANO10 TPP1 ATP2B3 CACNA1G SETX RUBCN SCYL1 PRKCG KCND3 PMPCA ALS2 ATN1 STUB1 ZFYVE26 PIK3R5 FMR1 HP_SEPTATE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTATE_VAGINA ZEB2 DHCR7 UBR1 INTU GATA3 MKKS MNX1 TP63 HOXA13 BCOR HP_BRACHYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYDACTYLY KDM1A IFT43 PUF60 COL11A1 NOG ATP7A MED12 WNT5A ATRX IFT122 PRMT7 KDM6A FGFR3 MAP3K7 RB1 ZFPM2 IFT140 GDF5 CCDC22 ZIC1 EOGT BBS4 NOTCH1 POGZ LIG4 CDH11 FAM20C RBPJ KRAS GDF1 ARID1A IFT172 USF3 RNU4ATAC KIAA0586 DYNC2I1 RAD21 SMARCD2 LSS PTCH2 SEMA3E PDE4D OFD1 TTC21B SOS2 LMNA ROR2 B3GLCT PDE3A TELO2 FBN1 DEAF1 SNX14 ALX1 CEP55 SOS1 SPECC1L NXN ARHGAP31 ACAN GATA5 GPX4 BMPR1B UPF3B CTSK COMP AKT1 IHH TRPV4 DYNC2LI1 BRAF SHOC2 KCNK4 C12orf57 MSX2 EVC COL2A1 LTBP2 GATA1 SMARCA2 ATP6V1B2 AFF4 TRPS1 FTO FAM111A ARL6 TCF12 IFT52 MRAS DHCR7 FZD2 CRIPT BBIP1 DVL3 KIF7 RBBP8 MEGF8 PCNT PAX3 PAPSS2 MAF DYNC2H1 MAP2K1 BPNT2 FGFR2 SIN3A BBS5 GNAS-AS1 EIF2AK3 TMEM216 RLIM MKKS BHLHA9 GNAS KLF13 ALX3 MRPS16 GJA1 DYM PTCH1 IFT80 RUNX2 CHRNA7 CHST11 PIGS WDR19 SLURP1 PGM3 HOXD13 RAB23 KCNAB2 ERF DONSON LONP1 IFT57 PPP1CB PIGK AHSG TFAP2B FLT4 GDF6 LZTFL1 MYCN EFNB1 CAMK2G GJB3 STX16 SIK3 SLC2A1 NSUN2 CANT1 EXOSC2 KAT6A FGD1 TRIP11 MBTPS1 KAT6B RDH11 KCNJ2 DVL1 EVC2 CHN1 FLNB BMP2 RRAS NOTCH2 GJB4 BMP4 PRKAR1A ZDHHC9 SDHB PDGFRB GABRD RIT1 SLC35D1 TWIST1 ADAMTS17 ITGB6 IGF2 MACROH2A1 FGF9 WDR35 LTBP3 CWC27 AIFM1 TCTN3 FBXW11 CSGALNACT1 INPPL1 RERE POC1A FLNA RPS6KA3 GLI3 CHSY1 POMP PTDSS1 FGFR1 REV3L LBR RRAS2 SH3PXD2B NRAS RASA2 EXTL3 SLC26A2 FLII RMRP KIF15 SEC23B SMC1A PIK3CA SRCAP RAI1 GJA5 RPL10 PTH1R FAM149B1 PLCB3 PITX1 ESCO2 CPLANE1 COL11A2 KLLN MAGEL2 PTHLH PDE6D TGFBR2 NIN KDM5C SNRPN A2ML1 KIAA0753 ADAMTS10 MAFB TNNT3 WASHC5 RAF1 SMAD4 ZMIZ1 NLRP3 PIGN SDHD SUFU GHR PTPN11 SKI PPM1D EHMT1 IFT81 TRIO NEPRO IQSEC2 NKX2-5 DYNC2I2 KDSR PTEN RIN2 CHST3 INPP5K CBL TBX22 NPR2 YY1AP1 JAG1 DLL4 BBS9 TBX15 SPART RSPRY1 PCYT1A MIR17HG SIL1 NBAS SHOX PPP3CA GATA6 MYSM1 SMC3 GPC4 CUL4B PIK3R1 BBS1 PORCN CILK1 MYMK ARID2 HOXA13 BGN NKX2-6 CCDC28B WAC PRDM16 PNPLA6 CEP120 SDHC SALL4 TMEM67 GATA4 EXT1 SLC35C1 PRKACB PLXND1 IARS2 HUWE1 NEK1 CHD7 MIR140 RHOA DOCK6 HDAC4 ADNP CSPP1 TASP1 DPF2 TBX1 ANTXR2 POP1 LZTR1 DYNLT2B DCPS STAMBP CSNK2A1 PAH CITED2 WNT4 HP_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNDACTYLY IFT43 MAP3K20 SALL4 HES7 FBLN1 NOG SOST XYLT1 SF3B4 KIAA1109 FGFR3 DMD SHANK3 WNT5A BTRC RB1 BRCA1 GDI1 BCOR MEIS2 LMBR1 IFT140 CCDC22 PIEZO2 EOGT IFT27 CTNND1 BBS4 NOTCH1 ARCN1 CREBBP NEDD4L FGFR1 FGFR2 LIG4 CDH11 HDAC8 GLI3 RBPJ ARHGEF6 TBC1D24 TBX15 DLX6 SBF1 CLCF1 KCTD1 YY1AP1 KIFBP IFT172 DHCR7 ASXL1 FANCM KCNJ8 RIPK4 DYNC2I1 RAD21 EP300 NECTIN1 OFD1 TTC21B FRAS1 HOXD13 LMNA IRF6 ROR2 B3GLCT FGF10 TELO2 DHODH TP63 TBR1 SEM1 GPC3 DEAF1 MAN1B1 PIK3CA CEP55 XRCC2 SPECC1L UPF3B SMC1A CCNQ ARHGAP31 DLX5 TXNL4A EPS15L1 HERC2 IQSEC2 CDH3 CDH1 ORC1 PWAR1 TRIO VAC14 C8orf37 SHMT2 PTDSS1 WASHC5 SMARCAD1 SALL1 WNT10B ATP6V1B2 GJB6 CKAP2L SHH NARS1 ARL6 DCHS1 FZD2 NPAP1 CERT1 LRP4 ERF EBP RAD51 CRIPT DVL3 SMC3 KIF7 SNORD116-1 SEMA5A RBBP8 MEGF8 CHRNG PAX3 DYNC2H1 TBX5 RBM8A BBS5 PLEC PAK3 FAT4 TMEM216 TMEM94 FANCD2 MKKS MKRN3 MTRR BHLHA9 SNORD115-1 EED MESP2 CDC45 MECP2 FDFT1 GPC4 CD96 MED25 SLC39A8 RPL10 GJA1 CRKL GDF5 RBM10 TRIM32 BBIP1 DYNC2LI1 BMP4 WDR19 AGTR2 LEMD3 ZEB2 SC5D HOXA11 DDX11 TWIST2 CTCF RAB23 BBS9 MAPK1 CNKSR2 PSMD12 POLR3A RIPPLY2 GRIP1 ERCC4 TFAP2B MYCN EFNB1 AKT1 DLL3 SIK3 CDIN1 NSUN2 SLC12A2 TMEM231 ZNF41 PIGY FGD1 SLC25A24 NSD1 SLC9A7 KCNJ2 FRMPD4 FANCC OTUD6B NDN UBE3A CXorf56 ZSWIM6 NPHP1 SLC12A6 STAG1 FREM2 FLNA IGF2 UBE2T WDR35 MAD2L2 FGF9 TTC8 TCTN3 FTSJ1 HCFC1 DLL4 PPP1R12A FBXW11 CSGALNACT1 GNE SNRPN CACNA1G CHSY1 CTNND2 WDPCP LZTFL1 SMO REV3L MKS1 IFT122 PHF21A APC ITGB4 NECTIN4 FLII FLNB SLX4 SUZ12 RAI1 BBS1 FANCB BMP2 FAM149B1 RPS6KA3 BBS10 VPS13B NAA10 IKBKG PTEN ESCO2 CPLANE1 PALB2 TBCK HEPHL1 SETD5 PDE6D IFT80 MECOM CDAN1 DLG3 TGFBR2 MEF2C BCR FANCI KIAA0753 NEK9 SMAD4 ZMIZ1 SOX5 MED12 DSP USP9X RAD51C MCTP2 EZH2 TTI2 SMOC1 ANKRD11 CCBE1 SETD2 IFT81 BBS7 FANCE MYH3 DVL1 PHGDH ACSL4 NEK1 MAGEL2 MRPS28 IRX5 TBX22 WNT7A MYH8 ADAMTS3 CNOT2 NIPBL DYNC2I2 PITX1 MIR17HG BMPR1B ABCC9 ZNF81 TWIST1 NBAS SIN3A CUL4B NXN CACNA1C SYP BRIP1 PORCN CILK1 CEP290 DDX6 MID2 FIG4 APC2 ZNF711 CCDC28B SVBP ARL6IP6 KMT2A PNPLA6 CEP120 RERE CLCN4 FERMT1 BLM FANCF ALG13 BBS12 HMGA2 PLXND1 MED13L PTCHD1 TSPAN7 RAB39B BRCA2 DACT1 PWRN1 IFT52 KAT6A RHOA DOCK6 FLI1 HDAC4 ADNP DYRK1A USP27X ARX BMS1 PUF60 FANCL PLAG1 PRKD1 IL11RA SYT1 SDCCAG8 RFWD3 FANCG RTTN FANCA IL1RAPL1 CDKN1C LFNG BBS2 HP_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_POLYDACTYLY WDR35 SALL4 TBX3 GLI3 CHSY1 WDPCP ARMC9 EVC LZTFL1 SMO HOXA13 TBX1 MKS1 TMEM231 SH2B1 CD96 EXTL3 RPGRIP1L RAB23 PHF8 LMBR1 IFT140 RPGRIP1 CCDC22 UFD1 FLII IFT27 B9D1 INPP5E CEP55 RAI1 BBS1 KIF7 CPLX1 PIK3R2 SEC24C HYLS1 FAM149B1 BBS10 IFT172 NSD2 DHCR7 HOXD13 RREB1 KATNIP CPLANE1 DYNC2I1 C8orf37 HIRA PDE6D IFT80 ZIC3 GLI1 SEMA3E OFD1 TTC21B GPC3 TMEM107 TFAP2A TMEM67 CC2D2A DEAF1 KIAA0753 MAFB GPC4 WASHC5 TMEM138 CIBAR1 GP1BB TCTN2 NELFA GDF5 TMEM216 CHD7 DYNC2H1 CEP290 TMEM237 ARL13B DYNC2I2 DYNC2LI1 AKT3 PLAA SETBP1 SMOC1 C2CD3 BBS2 CEP41 BBS7 SALL1 MBTPS2 IQSEC2 GJB6 AHI1 FGFR2 EVC2 SHH ACOX1 EFTUD2 NEK1 ARL6 LBR JMJD1C CEP104 MEGF8 CCND2 WNT7A CSPP1 ABCA12 DDX59 LETM1 COMT MKKS BHLHA9 PORCN TCTN1 TGFBR1 PTEN SUFU TRIM32 BBIP1 CCDC28B SC5D BBS5 BBS9 B9D2 PIK3CA BBS4 PNPLA6 CEP120 GLI2 TFAP2B KIAA0586 BLM TCTN3 BBS12 RBM10 PRKACB NPHP1 ZNF423 CTBP1 ARVCF DACT1 ARL3 FGFRL1 FLI1 GJA1 CHN1 TWIST1 ALX3 PIBF1 BMP4 EFNB1 PUF60 FANCD2 FLNA WDR19 SDCCAG8 KIAA0825 EBP BMPR1B TTC8 ZNF141 FANCB TMCO1 HP_POSTAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_HAND_POLYDACTYLY RPGRIP1L WDR35 WNT7A TBX3 GLI3 CC2D2A ARL6 WDPCP EVC DYNC2I2 LZTFL1 TMEM216 HOXA13 DYNC2H1 TMEM67 MKS1 PDE6D DDX59 KIF7 IFT172 CD96 TMEM231 RAB23 LMBR1 IFT140 MKKS RPGRIP1 IFT27 HYLS1 BHLHA9 BBS1 OFD1 PORCN GPC4 CEP55 CEP290 TGFBR1 PIK3R2 TMEM107 IFT80 TCTN2 SUFU TRIM32 BBIP1 DYNC2LI1 CCDC28B BBS10 DHCR7 ARMC9 SC5D BBS5 BBS9 B9D2 DYNC2I1 BBS4 C8orf37 MBTPS2 CEP120 SMO GLI2 TTC21B GPC3 B9D1 EVC2 TCTN3 FGFR2 BBS12 PRKACB AKT3 CIBAR1 INPP5E NEK1 CCND2 GDF5 CSPP1 ALX3 PLAA SETBP1 SMOC1 C2CD3 BBS2 NPHP1 BBS7 FLNA WDR19 SDCCAG8 KIAA0825 LBR BMPR1B TTC8 ZNF141 TMCO1 MEGF8 SHH HP_ABNORMALITY_OF_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METACARPAL_BONES EXT2 COMP LRP5 RPS6KA3 HHAT GLI3 XYLT1 PTDSS1 HOXA13 FLNB SHH NOG REV3L LTBP3 ABCC9 SH3PXD2B FZD2 CD96 FANCI EXTL3 APC MAFB SLC26A2 ZIC1 EOGT LMBR1 NOTCH1 TRPS1 KIF7 CPLX1 HDAC8 FLNA RBPJ FBLN1 INTU FAM149B1 TWIST2 SPARC NSD2 SETBP1 COL9A2 HFE HOXD13 GPX4 COL9A3 PTEN RNU4ATAC PDE4D KIAA0586 ESCO2 CPLANE1 PRG4 PTHLH PDE6D OFD1 PRKAR1A DDR2 GDF5 B3GLCT PDE3A FBN1 RAB3GAP2 RNF13 RSPRY1 KIAA0753 RMRP GLB1 SMC1A SETD5 ARHGAP31 LRP4 SUFU LBR MAP3K7 SALL4 COG4 COL2A1 COL3A1 IHH MMP2 FAT4 FGF16 BMP2 TRIO VAC14 SMOC1 COL9A1 ANAPC1 PTH1R P3H1 CHSY1 CLCN7 RUNX2 NEPRO CHST3 SMARCA2 ACVR1 ADAMTSL2 ROR2 NEK1 NFIX TCF12 IFT52 DHCR7 TBX3 INPP5K SIL1 KIF22 PTCH2 DLK1 SMC3 BMPR1B VPS13B WNT7A RECQL4 DLL4 PCNT SCARF2 PCYT1A BPNT2 TBX5 PEX7 GNAS-AS1 TMEM216 EIF4A3 HDAC4 KL IFIH1 LETM1 MKKS MYSM1 GNAS VPS35L TONSL PORCN GALNS DYM COL11A2 FBXL3 IFT80 FIG4 FGFR3 BGN B3GAT3 PIGS SVBP PQBP1 NIPBL MEG3 KMT2A RTL1 DONSON LONP1 PTCH1 DNMT3A NHS SRY FERMT1 AKT1 NONO STX16 SLC25A24 MMP14 CANT1 PLXND1 TRIP11 CTBP1 FGFRL1 DOCK6 KCNJ2 EXT1 SHOX GUSB BHLHA9 CSPP1 B3GALT6 SLC39A13 FANCD2 TWIST1 PRMT7 SALL1 ADAMTS10 DCHS1 PHYH CWC27 FGF9 TCTN3 RAD21 NPR2 TP63 FGFR1 RAB33B POC1A HP_ABNORMALITY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FINGER WDR35 CLIP2 COMP NFIX UNC80 GJA5 SOX4 HES7 FSHR YY1 EVC SF3B4 HHAT SHANK3 SLC9A6 ABCC9 BRCA1 KCNA1 PARN GDF5 TUBB B9D1 KANSL1 CEP55 TGFBR1 TRPS1 FGFR2 SIK1 GJA8 PIK3R2 RPL15 ARHGEF6 GDF1 ARID1A IFT172 NSD2 DHCR7 PAX1 CBS PIK3R1 ASXL1 SMAD3 COL10A1 KATNIP TNNI2 ACTL6A FIBP KIF7 SFTPC LMBR1 GLI1 LAMB3 KCNH1 HOXD13 LMNA TMEM107 PDE3A FGF10 PALB2 BRF1 DHODH GPC3 DEAF1 TERC GATA4 ZMPSTE24 XRCC2 SOS1 GP1BB NELFA NRTN COL6A3 KCNE5 DYNC2I2 PYCR2 ERCC5 LAMC2 ALX4 BRAF MSX2 SATB2 ERCC8 RELN MYH3 MBTPS2 WNT10B SCN1B CCDC8 NFASC CKAP2L COG7 TGFB2 GMNN LAGE3 ODC1 TMEM70 NPAP1 RAD51 COL6A1 DVL3 SMC3 SNORD116-1 RBBP8 PIEZO2 IGF1R AIP MAF YWHAE RBM8A SIN3A TMEM216 KMT2E FANCD2 RLIM TUBB3 MKKS MKRN3 WNT7A ALX3 CRKL BUB3 RUNX2 EIF2AK3 PIGS RTEL1 TNNT3 GDNF RPL10 TWIST2 RAB23 SEMA3C CNKSR2 PIK3CA IGHMBP2 DONSON DYNC2LI1 CTSC ZBTB20 B3GLCT GLI2 EHMT1 EFNB1 RBPJ NONO UBE3B RBM10 NSUN2 AKT3 TRIP11 IFT140 HDAC8 CEP120 NSD1 KCNJ2 FRMPD4 GJA1 CHN1 ATP6V1B2 FLNB BMP2 KMT2D PSMD12 TRPV4 B4GALT7 PTPN22 TP63 PRKAR1A ZEB2 B3GALT6 NPHP1 LIFR NOD2 FLNA RIT1 IFT80 WDR19 OCRL MACROH2A1 RPL5 DPAGT1 TBCK ZC4H2 IGF2 MAD2L2 CCN6 FGF9 FTSJ1 HCFC1 WDFY3 ZNF141 FBXW11 INPPL1 RERE MYH8 TMCO1 ALOX12B BMPR1B NUP107 DOK7 PGAP3 HOXA13 MKS1 SUMF1 RRAS2 PIGV CD96 MAFB PIGN UFD1 RMRP AMMECR1 XYLT1 SUZ12 TRMT1 FBXO11 SMC1A ANKRD11 TBC1D24 SETD1B ZNF462 ATP11A MED13 GTF2IRD1 FBN1 BMP1 PDE4D TPRKB ESCO2 COL2A1 ELN PRG4 DPYS PDE6D LIG4 SLC25A46 ZIC3 MECOM FBN2 SEMA3E EZH2 NIN DYRK1A ERCC2 BCR KIF1A ATR PIK3CD RNF13 COL6A2 WNK1 PRKDC ZMIZ1 GATA1 TCTN2 DSP KDM6B LRP4 FOXP1 NOG PTRH2 BBS2 CEP41 SETD2 TRIO FGFR3 CYP26B1 BHLHA9 NEPRO CHST3 ACVR1 KDSR KDM5C DPP9 KCNK9 TBX3 INPP5K TRAIP JMJD1C CBL PTCH2 ATL3 CPLANE1 RPL27 PEX6 ADAMTS3 CNOT2 FANCA CRLF1 UBA1 RSPO2 GATA6 CRPPA STUB1 NR2F1 RPL26 PLAA SUFU ATRX ACTG1 PSMB4 NKX2-6 ACTL6B NIPBL HERC1 CANT1 POR FOXE3 PIGY RPS7 TGFB3 LONP1 TFAP2A RAI1 ORC6 DLX5 MTX2 IHH CLCN4 BLM ALG13 PRKACB PCGF2 HMGA2 PHGDH KDM1A COL11A1 COL12A1 PTCHD1 EFL1 CHD7 DACT1 WDPCP FLI1 HDAC4 TOR1A CPT2 RPGRIP1L PIGO FBLN5 CDC45 EDA2R ECE1 ARX H19 SLC18A3 FANCL PHF6 SALL1 EVC2 EBP ORC1 CDKN1C TFAP2B KLHL7 STAMBP IDS GATAD2B TBL1XR1 CWF19L1 ABL1 SALL4 PIGW SMPD4 SOST KIAA1109 TP53RK SLX4 TMEM231 TSR2 TRMT10A KMT2A NCKAP1L TPM2 CHST14 RPGRIP1 MLXIPL ANKLE2 CPLX1 BRIP1 CLCF1 RPS19 SETBP1 PTEN COL1A2 MATN3 BCOR RETREG1 FANCC CHD1 FRAS1 TELO2 SRCAP DLX3 TMEM67 AUTS2 IGF1 CC2D2A DDR2 ALX1 SLC25A22 CDC6 DYNC2H1 GATA5 PPP1R15B GPX4 CREBBP UPF3B COL3A1 HINT1 PWAR1 SHMT2 C2CD3 SLC26A2 WDR4 MTM1 HESX1 ADAMTSL2 ERCC1 ARL6 COL5A1 IFT52 CEP104 CDKL5 MBD5 TERT SHH SMARCA4 CHRNG RECQL4 MAT2A TBX1 PCNT RFT1 GNPTAB DPF2 LMNB2 TBX5 PMM2 PRDM5 USP9X TMEM94 IFIH1 LETM1 POLR3A GPC4 TRIM32 NLRP3 AGTR2 HOXA11 MFAP5 CTCF RIPPLY2 DMXL2 IFT57 PTCH1 ERCC4 ZNF41 FGD1 CDC42 PAFAH1B1 USP7 CCND2 OSGEP KLHL40 SOX9 SLC9A7 EDNRB KMT2C KCNJ11 GJB4 PIK3C2A LOX PIGG PUF60 STXBP1 KIAA0825 UBE2T CCNQ C1R CNTN1 EXOSC9 FGFR1 PACS1 RAB33B FANCB RAB18 PADI4 WFS1 GLI3 GORAB SMO REV3L ACSL4 PHF21A KDM6A RASA2 SH2B1 EXTL3 COL5A2 ATRIP RNU4ATAC ZFPM2 FLII ARID1B SBDS INPP5E ZNHIT3 NALCN NUP133 RAB3GAP2 JAG1 MEGF8 BMPR1A RPS6KA3 MEGF10 BBS10 ABCA3 ARMC9 COL1A1 RREB1 TANC2 CCDC22 MAGEL2 RPL35 SETD5 RPL31 HIRA GATA2 SPIDR SNRPN FANCI DSE PPP2R1A ATN1 RAF1 MED12 LEMD3 PACS2 PTHLH ARL13B ITGB4 TGDS LMOD3 SLC2A10 BRAT1 SRP54 DVL1 CHSY1 MYOD1 BBS7 IQSEC2 OFD1 ACOX1 NLRP1 DLK1 CHD4 YY1AP1 DLL4 TAPT1 RAC1 CEP152 IFITM5 SCARF2 PITX1 MIR17HG SIL1 EP300 NXN GNAS MYBPC1 PIGP MGP VPS35L SYP BBS1 EFEMP2 EMC1 MID2 SLC29A3 IFT43 SAMD9 PTPN11 EFTUD2 SOX11 ZNF711 PAX3 SVBP WAC MEG3 BBS4 SLC25A24 KIAA0586 BANF1 DYNC2I1 TCTN3 KRAS BBS12 EIF2S3 NUP37 AP4M1 HUWE1 SLC35A3 NEK1 CTBP1 TSPAN7 BRCA2 PWRN1 KAT6A DOLK FAT4 RPS26 TWIST1 USP27X CSPP1 PLOD1 BCORL1 LMX1B DLG4 PTF1A IL11RA IL10 HPGD SLC39A13 LZTR1 RFWD3 FAM13A SMARCAD1 RTTN IL1RAPL1 COL11A2 PORCN RPS27 CIITA HIC1 UBR1 ADGRG6 WNT5A DHPS IFT122 DMD RB1 PRKG1 LARS1 GDI1 BICD2 MTOR EOGT IFT27 NOTCH1 NR5A1 PIGQ KIF22 FKTN TBX15 SPART CENPJ FANCM ADA2 KCNJ8 C8orf37 ALG3 SPEG BPTF ALDH18A1 ROR2 TBL2 TBR1 CHRNA1 CIBAR1 CD244 ABCC8 MUSK RUSC2 ACAN TCF4 TMEM237 HERC2 GGCX COG4 RAD51C MASP1 KCNK4 VAC14 OBSL1 LIMK1 SIM1 MSL3 CLCN7 SMARCA2 GJB6 AHI1 PLK4 LBR SMS WDR73 CENPE RPS15A KIFBP PSMC3IP TTN PGAP2 EIF4A3 COMT HRAS GPKOW SNORD115-1 MADD RPL11 MECP2 KLF13 MED25 CTDP1 TCTN1 DYM L1CAM PIGL WIPI2 SMARCD1 PQBP1 BBS9 RPS10 ACTB EXOC6B AKT1 DLL3 AEBP1 DOCK3 RPS28 CAPN3 NDN RRAS PIBF1 BMP4 TLL1 KAT6B PDGFRB STAG1 SPOP SC5D CUL7 EMG1 SMARCC2 CWC27 AIFM1 TTC8 KNSTRN EDA TRAPPC9 MORC2 FANCG POC1A STK11 PTDSS1 TGFBR2 COX4I1 FZD2 APC MYT1L MUC5B MAPK1 AMER1 KAT8 RIPK4 FARSA SOX6 ACTA1 INTU FAM149B1 CD55 NEK9 ATAD1 NAA10 IKBKG TRRAP RFC2 AFF2 ADAMTSL1 XYLT2 ORC4 ALG14 DDX6 KIAA0753 WASHC5 TMEM138 SMARCE1 SON CEP290 CNOT3 EXT2 CNOT1 MCTP2 IDUA PTH1R CCBE1 PSMB9 FANCE NEUROD2 ZNF469 KCNN3 NKX2-5 CTU2 MRPS28 STAG2 PHIP ERGIC1 RSPRY1 PCYT1A ABCA12 ZNF81 DDX59 CUL4B NRAS SHOX HYLS1 TRIM8 SEMA3D ALOXE3 SCN9A P4HTM MYMK CHRNA7 MOGS CCDC28B HYOU1 RPL35A PRDM16 SOX5 CEP57 DNMT3A CTSK ADAT3 FANCF PLXND1 ZNF423 ARVCF ZBTB16 CASK SLC16A2 PPP2R3C BAZ1B PRKD1 ANTXR2 SDCCAG8 MYCN SH3PXD2B LFNG PAH NPR2 TRAPPC4 BIN1 BUB1B POLA1 NHS ARID2 PHF8 MEIS2 SKI CHRND SEC24C ADAMTS2 PSMB8 GTF2I SACS RAB3GAP1 TTC21B MYLK SOS2 LAMA3 MIR140 OTUD6B MAN1B1 SPECC1L NGLY1 ARHGAP31 ATP13A2 MAP3K7 SYNE1 C12orf57 XRCC4 NUP88 NTNG1 TCF20 CDT1 EDN3 SNIP1 HIVEP2 NOTCH2 MRAS CRIPT RAB11B SFTPA1 PIGB PI4KA MAP2K1 PAK3 ASXL3 COG5 COG8 EED MESP2 SMG9 KPTN PKDCC BBIP1 CHST11 B3GAT3 PEPD SCN2A SLC5A6 KCNAB2 PIGH FLT4 GJB3 GNAO1 EXOSC2 RPS24 SLC35A2 ACP5 UBE3A RPL18 OPA3 CXorf56 ZDHHC9 SLC12A6 GABRD NEB TRIP13 PEX1 NFKBIL1 RAD21 SMARCB1 CSGALNACT1 BNC1 MGAT2 LZTFL1 ARSL ALMS1 SFTPA2 RASGRP1 MAPRE2 KIF15 ACTA2 MAPK8IP3 SMAD4 BUB1 VPS13B MYH11 RET POLR3H DLG3 PNKP NKAP ASAH1 SNRPB ERCC6 A2ML1 ADAMTS10 NARS1 PUM1 GPR101 LTBP2 MED12L MMP2 SMOC1 RYR1 ANAPC1 IRX5 SLC22A4 KLHL41 TBX22 ECEL1 MAP1B ASPN STN1 RPS17 CCNK IARS1 LAS1L FIG4 BGN APC2 BBS5 DNAJC21 B9D2 LRBA RTL1 PNPLA6 ACTG2 FERMT1 WASF1 CLIC2 EXT1 RAPSN RNF216 IARS2 RAB39B NSDHL BMP15 ARL3 FGFRL1 DOCK6 G6PC3 ADNP RPS29 TBX4 PLAG1 COL17A1 MRPS22 EBF3 CITED2 HP_BROAD_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PALM B3GLCT DYM SPECC1L FBN1 COL2A1 IFT80 GPC3 GPC4 FGD1 GATA1 ADAMTS10 ASXL1 IHH OFD1 BCOR PRKAR1A LBR FHL1 AIFM1 TBL1XR1 PTH1R RAI1 SLC35C1 RPS6KA3 FGFR1 PPP2R3C HP_ABNORMAL_THUMB_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THUMB_MORPHOLOGY WDR35 KDM1A CLIP2 SALL4 GJA5 SMPD4 FANCE ADGRG6 XYLT1 WNT5A FBN2 SF3B4 KIAA1109 FGFR3 NOG SLX4 RB1 SLC9A6 BRCA1 FANCI TSR2 MGP PHF8 MEIS2 LMBR1 TPM2 CHST14 GDF5 RPGRIP1 ANKLE2 CEP55 SUMF1 FGFR1 FGFR2 LIG4 B3GALT6 GJA8 FBXW11 CPLX1 COL12A1 HDAC8 BRIP1 RPL15 TBC1D24 SPART RPS19 GTF2I NSD2 DHCR7 SETBP1 PTEN FANCM ADA2 DSE TNNI2 ACTL6A ERCC4 BCOR FANCB RIPK4 FANCC FIBP KIF7 ALG3 EP300 BPTF ALDH18A1 KCNH1 FRAS1 TMEM107 ROR2 B3GLCT FGF10 PALB2 TBL2 DHODH OTUD6B TFAP2A DOCK3 GPC3 XRCC2 SMC1A NXN RFWD3 NELFA NRTN DYNC2H1 DLX5 ACAN BMPR1B DYNC2I2 PYCR2 CREBBP SYNE1 MKS1 RAD51C IHH ALX4 TRIO MSX2 VAC14 SHMT2 SLC26A2 LIMK1 WDR4 RELN COL2A1 MSL3 SALL1 NTNG1 TCF20 ATP6V1B2 COG7 EDN3 SNIP1 SHH ERCC1 EFTUD2 WDR73 RPS15A RAD51 CRIPT L1CAM DVL3 SMC3 MEGF8 PIGB PCNT RFT1 TP63 RECQL4 TMEM216 LMNB2 GPC4 TBX5 RBM8A SIN3A LETM1 USP9X EIF4A3 KMT2E FANCD2 RLIM GPKOW FLNA BHLHA9 EED COL6A3 RPL11 MYH3 OFD1 MED25 TCTN2 PKDCC CHST11 B3GAT3 PSMD12 BMP4 WIPI2 ZEB2 TNNT3 PHGDH PQBP1 GDNF HOXD13 RAB23 SEMA3C RPS10 ACTB TP53RK MED12 PTCH1 MYCN RUNX2 NSUN2 CANT1 EXOSC2 CDC42 COL6A2 BMP2 RPS24 KLHL40 DVL1 RPS28 EDNRB GJA1 CHN1 OSGEP RPL18 OPA3 ELN GATA4 NEB IFT80 UBE2T FGF9 RPL5 MAD2L2 KNSTRN WDFY3 RAD21 EXOSC9 INPPL1 PACS1 FANCG GLI3 CHSY1 MGAT2 SMO HOXA13 REV3L FZD2 EXTL3 NALCN APC MYT1L SUZ12 TRMT1 ACTL6B NUP107 SRCAP ANKRD11 NUP133 FLNB ZNF462 ALG13 MED13 ACTA1 HYLS1 BMPR1A INTU GTF2IRD1 NEK9 FBN1 ATAD1 NAA10 TPRKB TANC2 RPL35 RFC2 RET RPL31 RRAS2 ZIC3 SEMA3E EZH2 B9D1 PIK3CD DDX6 LIFR ADAMTS10 MAFB GATA1 LTBP2 SETD5 RPL26 CHD7 LRP4 SON SUFU CNOT1 FANCL PTRH2 LMOD3 ESCO2 CHST3 ACVR1 KCNN3 CPLANE1 SATB2 SMOC1 CEP290 KLHL41 PTCH2 ECEL1 ZMIZ1 DLK1 RPL27 TAPT1 NIPBL FANCA CRLF1 MIR17HG TWIST1 UBA1 TMEM231 RSPO2 CRPPA GNAS MYBPC1 GLI1 RPS17 BRCA2 VPS35L STUB1 SEMA3D CC2D2A SVBP FIG4 ACTG1 RPL35A MEG3 B9D2 RPS7 KMT2A RTL1 LONP1 DYNC2I1 FANCF CLIC2 TCTN3 PCGF2 PLXND1 AP4M1 NEK1 CTBP1 DACT1 WDPCP FGFRL1 G6PC3 RPS26 TMEM67 LAGE3 MAP3K7 ADNP ZBTB16 TOR1A COL6A1 RPGRIP1L CSPP1 RPS29 PPP2R3C BCORL1 BAZ1B ECE1 NSD1 PUF60 PRKD1 RPS27 ZC4H2 PAH TRAPPC4 CWF19L1 HP_LARGE_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_HANDS KDM5C PHGDH PEX6 SDHC RPS6KA3 PPARG PACS1 AIP GPR101 PHF8 SUZ12 SHANK3 ABCC9 NSD1 POLR3A HERC1 ASNS EED BSCL2 FIBP NF1 AGPAT2 KIT EZH2 SDHB INSR RNU4ATAC FOS SETD2 CAV1 APC2 PEX1 PIGL CAVIN1 MEN1 PSAT1 HP_PREAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_HAND_POLYDACTYLY FGFR2 WDR35 TMEM107 LMBR1 SALL4 TFAP2A MAFB SMO TMEM216 NEK1 CTBP1 DACT1 HOXD13 NELFA GLI3 EXTL3 WDPCP TMEM231 LETM1 DYNC2H1 FGFRL1 PHF8 TMEM67 RPGRIP1 GLI1 GJA1 CHN1 DYNC2I2 BHLHA9 MKS1 RPGRIP1L CSPP1 OFD1 CEP55 BMP4 CC2D2A CPLX1 TCTN2 EFTUD2 PUF60 FANCD2 HYLS1 SALL1 IFT80 NSD2 CPLANE1 B9D2 CEP290 KIF7 DYNC2I1 B9D1 SHH TCTN3 HP_ULNAR_CLAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_CLAW HSPB1 MPZ SBF2 PMP22 MPV17 GDAP1 PRX EGR2 NEFL HP_HAND_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_OLIGODACTYLY ESCO2 WNT7A CHD7 DLX5 SMOC1 WNT10B NIPBL BHLHA9 SF3B4 SEMA3E PORCN RECQL4 HP_ADDUCTED_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDUCTED_THUMB CLIP2 TNNI2 TAPT1 SMPD4 ADGRG6 RFT1 CRLF1 FBN2 KIAA1109 RBM8A UBA1 SLC9A6 NALCN ALDH18A1 TPM2 CRPPA CHST14 GPKOW MYBPC1 COL6A3 ANKLE2 MYH3 STUB1 MED25 FBN1 SEMA3D B3GALT6 NUP133 COL12A1 ALG13 ACTA1 L1CAM CHST11 GTF2IRD1 GTF2I ZEB2 CREBBP TNNT3 PHGDH NEK9 DSE GDNF ATAD1 MEG3 SEMA3C TPRKB TP53RK RFC2 RET RTL1 ALG3 EP300 KCNH1 TBL2 PCGF2 LIFR AP4M1 COL6A2 KLHL40 NRTN LAGE3 EDNRB SYNE1 OSGEP TOR1A COL6A1 LMOD3 SHMT2 BAZ1B LIMK1 ELN WDR4 ECE1 RELN NEB MSL3 COG7 EDN3 ERCC1 WDR73 KLHL41 ECEL1 DLK1 NUP107 EXOSC9 HP_TAPERED_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_FINGER KDM1A PHIP KIFBP UNC80 RPS6KA3 TCF4 AIP PIGB MAF CRLF1 ATRX TP53RK ACSL4 ABCC9 PHF21A PIGV MYMK KMT2A USP9X SMC1A MAPRE2 AMMECR1 ZNHIT3 MAPK1 CCNK FBXO11 NR2F1 DDX6 RPL10 SCN9A SETD1B LAS1L FIG4 PAX1 ASXL1 SVBP CNOT1 VPS13B MAGEL2 EXOC6B SLC25A46 DLX5 GATA2 EHMT1 ADAMTSL1 GJB3 WASF1 DYRK1A KIF1A RUNX2 TELO2 BRF1 OTUD6B EIF2S3 PCGF2 GJA1 RNF13 IARS2 PUM1 DSE TNNT3 COL12A1 HUWE1 CDC42 GPR101 CDKL5 WNK1 ODC1 ZMIZ1 PIGN DOCK3 PHF6 TCF20 CNOT3 RUSC2 KCNE5 MYOD1 KMT2C CPT2 HDAC8 GJB4 TRIO VAC14 SIM1 SLC12A6 GATA4 SLC39A13 BCORL1 SPOP SMARCAD1 RETREG1 KMT2E SNIP1 OFD1 KDSR KDM5C HIVEP2 CHST14 IRX5 ARX EBF3 MAP1B TRAPPC9 CHD4 KIF7 INPPL1 RAB11B ECE1 HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS PTDSS1 PIGG COL5A1 PKDCC IFITM5 FBN1 OTUD6B GORAB FGD1 BRAF RPS6KA3 KCNH1 COL1A2 NFASC PLAA SMS HRAS HP_HAND_CLENCHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_CLENCHING CDK5 MAPT BICD2 TBR1 TPM2 L1CAM MYOD1 NEB GTPBP2 TOR1A ATP6V1E1 MOGS SMG9 CNTNAP1 SLC6A9 SCYL2 KIAA1109 WDR73 DST FLNB GLE1 KCNA1 BCOR HP_ABNORMALITY_OF_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CARPAL_BONES SALL4 NOG NIN EVC XYLT1 RSPRY1 PAX3 PITX1 RECQL4 TONSL HOXA13 GNPTAB SHH MAP3K7 COMP PIGV CHST3 SHOX APC MAFB NXN FGFR3 EXTL3 MMP2 RMRP COL11A2 FLNA LMBR1 GDF5 WNT7A TBX5 NANS DYM FLNB KIF22 COL2A1 ENPP1 EIF2AK3 EBP BGN FBLN1 MYH3 PTH1R POR ESCO2 DYNC2LI1 EXOC6B LONP1 UFSP2 GLI1 ALDH18A1 EVC2 DDR2 FGFR2 SETD2 HOXD13 XRCC2 MMP14 B3GALT6 CANT1 GPC3 GPC4 TRIP11 MBTPS1 ABCC6 MATN3 ROR2 LRP4 BMPR1B IHH BHLHA9 CHSY1 SLC35D1 MACROH2A1 SLC10A7 SMOC1 NOTCH2 TRPV4 ATP7A RBM8A HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND BCR WNT7A PAX3 TNNI2 MYH3 NALCN LIFR HOXA13 ADGRG6 FBN2 ALG9 BMPR1B DACT1 MAFB CD96 TGDS MUSK TPM2 HRAS MAP3K7 SLC26A2 MYBPC1 GDF5 PIEZO2 ASXL1 COMP PTRH2 CILK1 ZEB2 RAB3GAP2 MYMK CRKL FLNA COL9A1 SALL1 BMP2 RBM28 TNNT3 COL9A2 COL9A3 MAPK1 LBR DHCR7 KLHL7 SHOX TBX22 RAB3GAP1 PEX1 HOXD13 HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD CFH HSPG2 RTL1 PIGW TAPT1 HMGA2 F7 PACS1 IGF1 CD46 PGAP3 ADGRG6 SCARF2 FERMT1 WASHC5 TP53 MEG3 CDKN2A LMNA MKS1 PGAP2 HOXD13 GATA6 TTC37 MUSK WNT3 CCDC22 POMP FOXF1 STOX1 CHEK2 MCTP2 F13A1 PIGV C11orf80 GJB2 PIGO PLAGL1 DDX6 KHDC3L PIGL GLE1 CFI LORICRIN ZMPSTE24 TBC1D24 PLAG1 MYD88 DLK1 CORIN NRAS PHGDH RAC2 HYMAI MEI1 SMARCAD1 FANCB POR IGF2 PIGY NLRP7 SERPINE1 CDKN1C ITGB2 MDM2 HELLPAR FLT1 F13B HP_SHORT_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UMBILICAL_CORD ZMPSTE24 MUSK PHGDH LMNA ADGRG6 HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH WDR35 CLIP2 JAK2 NDUFS4 CCDC174 CYP11A1 PUF60 TRAK1 WDR62 TRDN NALCN ADGRG6 FDXR DHPS NDUFB3 SF3B4 KCNQ1 PRKG1 BRCA1 SLC1A2 NDUFV1 MGP SIX3 NPHP3 BICD2 PAH CCDC22 MMACHC GPC6 EOGT CALCRL CCDC114 PEX6 NOTCH1 TREM2 PREPL KANSL1 CEP55 MRPS22 MAGEL2 NPC2 NDUFB11 HDAC8 SNRPN DISP1 MYL1 CCDC103 PLD1 NSD2 NEB DHCR7 ASXL1 SMAD3 FANCM ADA2 HYMAI SLC26A2 PPM1B LMOD1 RNU4ATAC MYF6 ITGA8 NDN LRRC6 NODAL COL1A1 SYT2 EP300 FOXF1 ABCB4 TMEM107 INPPL1 MECOM PDSS2 TBL2 SPTB GABRA2 ALG9 GAS8 PEX5 DEAF1 ITGA7 PEX26 CHRNA1 DNM2 MEG3 XRCC2 SOS1 GP1BB EPB41 GAS1 NELFA MUSK DNAH9 TSHR PKLR HERC2 MYOD1 RAPSN DYNC2I2 MKS1 GATC SYNE1 FLT4 ORC1 NDUFA1 TSEN54 NEK8 DOK7 VAC14 GUSB LIMK1 FGA TRAF7 SHPK DNAAF1 GRM7 MBTPS2 CHAT GATA1 GJA1 FGG ALPK3 CORIN NFASC CACNA1A SFTPB TGFB2 EXT2 DALRD3 LBR PAX7 LARS2 ODC1 WDR73 TMEM70 ITGA2 SOX18 NPAP1 STOX1 RPS15A ACTA1 RET RAD51 COL6A1 YWHAG DMPK GFPT1 SMC3 SNORD116-1 STAT2 SLC18A3 ANK2 WRN CHRNE PTCD3 VAMP1 F7 SHH ENG TRPV6 MAMLD1 NDUFAF1 ITGB4 HSPG2 PTPN23 YWHAE PGAP2 TTC37 PIGA TRPV4 VCP ITGB3 FANCD2 COMT KCNB1 HRAS GPKOW FUT8 MKRN3 SNORD115-1 MADD COL6A3 RPL11 RPS19 ACE AARS1 CRKL DIS3L2 BUB3 ENPP1 TCTN2 ATN1 GRIN2D PIGS PTH1R VANGL2 ALX4 DLL1 PDHA1 IRF6 RPL10 CYP11B2 PEX10 SPEF2 RIT1 RPS10 IGHMBP2 MAP2K1 TRAIP GRIP1 PAFAH1B1 LMNA B3GLCT GATB ERCC2 GBA ERCC5 MPZ DNAAF2 TRIP13 GTF2H5 NUS1 AMMECR1 GLE1 PLEC WNT3 MYL2 TTC25 OCA2 LGI4 FOXE1 SLC25A24 CACNA1D TAF1 RPS28 POMP TTC7A FANCC RRAS DLK1 GJB2 DYNC2I1 KAT6B TGFBR1 ELN LIFR SPOP AIMP1 GABRA5 IFT80 MYPN HNRNPK NRAS GATA6 RPL5 TPM2 TBCK SLC35D1 IGF2 PLVAP MAD2L2 CCDC39 COL1A2 TMCO1 RTL1 NME8 NDUFA11 PEX11B KRAS PGAP3 RNF113A NTRK2 HOXA13 TGFBR2 COX14 TP63 CCDC151 RRAS2 KCNJ11 TIMMDC1 MTMR14 MAFB FAS USP9X PIGN NDUFS6 UFD1 FLNB SLX4 AMER1 TPM3 GABRB2 ACTG2 FARSA POLR2A SFTPC PLAGL1 KDM3B TBC1D24 NUP188 GLDN SLC5A7 GTF2IRD1 ZMYND10 SZT2 REN PNPO TMEM106B COQ2 NEK9 DNAAF6 STXBP1 TPRKB ESCO2 RPL15 RFC2 PALB2 TP53 F13B DNAAF4 GPC3 B9D1 DYRK1A CFH BCR PMM2 KCNJ6 ALG14 HADHB OPA1 RNF13 WASHC5 GP1BA GRN NLRP3 CAV3 DNAH11 PSAT1 HCN1 CDK19 SON PTRH2 MCTP2 STRADA KHDC3L SARS2 SHOC2 CCBE1 FANCE CHRNG NDUFS3 CFL2 COX15 MYH11 SOX17 CEP290 COL5A1 RYR1 JMJD1C CBL HELLPAR NDUFV2 CRTAP SCN10A FXR1 CLCNKB RPL27 SPAG1 ERGIC1 ZIC2 ADAMTS3 GMPPB CYP19A1 SLC25A1 ASCL1 UBA1 SIN3A ATRX F8 TMEM231 MPL CRPPA H19 SLC25A20 HYDIN HADHA ARNT2 TRIP11 HYLS1 GREB1L SERPINC1 DZIP1L FGFR3 MYH7 NOS3 PIGQ CC2D2A NDUFS1 EBP NDUFS8 ZC4H2 NIPBL GALK1 FANCB RPL35A POR FOXE3 KBTBD13 ABCC6 HACD1 PIGY RPS7 DRC1 TGFB3 LONP1 PEX16 RAI1 CEP57 TARS1 ADAT3 ABCA12 FANCF PEX19 SUFU PSEN1 NDUFB9 PCGF2 HMGA2 TBCD SLC13A5 MYH3 PHOX2B NDUFAF4 NDUFS7 CHD7 ARVCF SLC26A3 C9orf72 WDPCP FLI1 CYFIP2 IBA57 TOR1A PPARG KLHL40 CPT2 RPGRIP1L QRSL1 TALDO1 PIGO FBLN5 BAZ1B MYO9A ATP8B1 ZMPSTE24 FANCL EEF1A2 CRB2 ERBB3 MYCN KLHL41 DNAJB13 MEI1 OTX2 COL2A1 MYLK CDKN1C NPC1 ITGA6 HTR1A KLHL7 RSPH3 NDUFB10 DHDDS ARV1 PIGW BUB1B ALDH7A1 COL11A1 CD46 TRIP4 SMPD4 RSPH4A HBA1 TBX1 KIDINS220 SPINT2 SCYL2 GABRG2 PRPS1 FARSB KCNJ1 SNTA1 TSR2 RPGRIP1 CHRND SERPINH1 CYP11B1 MAP3K20 HBA2 AGGF1 NECAP1 B3GALT6 AGTR1 CPLX1 COL12A1 PEX2 KIF14 SEC24C ADAMTS2 CFI RBPJ MME WDR81 ABCA3 GTF2I SCN8A EPHB4 CCNO RSPO2 PRKCD MT-ND2 SEMA3E SLC17A5 AGT CLTCL1 PRUNE1 NEK10 CCDC65 FBN1 SLC3A1 SOS2 CHMP2B SQSTM1 RSPH1 GAS2L2 BMPER SCN5A IGF1 FGF20 WNT4 LHX1 DNM1L PEX13 SMC1A NDUFAF2 DNAL1 ZFP57 SELENON SYCP3 ARHGAP31 DYNC2H1 SNAP25 COL3A1 DYNC2LI1 PWAR1 DNAI2 MT-ND3 MFAP5 WDR4 MTM1 MPLKIP NUP88 RASGRP1 NDUFAF3 BRAF DNAH1 SCN3A INVS UBE2A KCNA2 AGRN ALB KIF5C PTCH1 BIN1 PEX3 MRAS NDUFA6 CERT1 OFD1 COQ7 CLCNKA FUZ FLT1 PEX14 DNAAF3 USP7 MAT2A FGFR1 TMEM216 DNAAF5 CNTNAP1 CDKN2A PROKR2 LETM1 FOXRED1 COL13A1 COG5 SETD1A ALG8 SMG9 GBE1 BNC2 C1QBP F13A1 GPC4 CHRM3 CD96 TMEM126B MAGED2 NECTIN1 FGB XIST CREBBP PIEZO1 ABCB11 AHCY CTCF TP53RK MAPK1 ERF CPT1A POLR3A ERCC4 DNA2 NUBPL RSPH9 NR3C2 GNPTAB SYNJ1 HSD17B4 SOX3 CD109 SLC12A1 FERMT1 IL1RN COL6A2 RPS24 OSGEP ALG12 ARMC4 SLC35A2 F2 SLC25A26 SOX9 CLCN7 UBA5 DPM2 RALGAPA1 CDON RPL18 CNKSR2 CTSA LOX SLC12A3 CALM3 PBX1 SLC25A19 ABCC8 SEC24D UBE2T RAC2 ADARB1 NKX2-5 ACTL6B LTBP3 AKAP9 DNM1 HESX1 DNAI1 RAD21 AQP2 CNTN1 NDP TSFM EXOSC9 CSGALNACT1 PACS1 KCNJ5 NDUFS2 HSPA9 RPGR GLI3 SLC27A4 CACNA1C KIAA0586 NR1H4 ATP6V0A2 RASA2 MYMK EXTL3 PADI6 COL5A2 CARS2 DOCK6 THPO FLII ACTA2 SMAD4 BUB1 NUP133 LORICRIN GTF2E2 BTG4 MEGF10 DONSON CNOT1 VPS13B SCN4B RREB1 PKHD1 OSTM1 CFAP298 RPL35 SERPINE1 ITGB2 RPL31 HIRA CALM1 STK36 CDAN1 ITGA2B MT-ND1 PEX1 LMOD3 ASAH1 PHGDH TGIF1 CLTC FZD4 A2ML1 FANCI GLI2 NOS1AP CASP10 ASCC1 LRP5 RAF1 CAMKMT FGF8 SETD5 RPL26 BSND F5 RAD51C SYNGAP1 ATP6V1A NEU1 PIGV NDUFAF5 THOC2 PIGL UROS IQSEC2 SMARCAD1 MAPT ALG1 MDM2 FOXJ1 AVPR2 MED12 MAP2K2 FASLG ALPL VANGL1 WNT7A GYPC DLL4 TAPT1 CFAP300 HNF1B MTHFR DNAH5 ERCC3 PEX12 SCARF2 ZBTB42 FGF12 KIF7 IL2RB CCDC40 GPHN RPS17 BRIP1 EFEMP2 DDX6 KCNE1 IARS1 LRRC56 PTPN11 FIG4 KCNE2 MYD88 SLC6A9 CFAP221 PPP3CA B9D2 AP3B2 KMT2A NLRP7 SMN1 TCTN3 KLF1 TTC12 PRRX1 ATAD3A NEK1 CTBP1 SNRPB SLC9A3 MSX1 BRCA2 PWRN1 HOXD13 FGFRL1 FAT4 ANXA5 RPS26 TMEM67 LAGE3 WWOX CACNA1B CSPP1 TDGF1 CHEK2 RPS29 PLOD1 C11orf80 EFNB1 FLVCR2 PLAG1 FOXH1 LZTR1 RFWD3 PARS2 NDUFAF8 KCNH2 MCIDAS FANCG SOX2 SPTA1 FANCA RPS27 CALM2 EBF3 TRAPPC12 NUP107 HIC1 HP_TRIPHALANGEAL_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIPHALANGEAL_THUMB LMBR1 FGF10 SALL4 RPL11 FGFR2 FANCI PIGB MAFB SF3B4 GLI3 XRCC2 FGFR3 TBX5 TWIST1 RPS24 GATA1 BRCA1 BRCA2 DACT1 TSR2 RPL26 DLX5 FANCD2 RPS26 RPS28 RPS17 FANCC CHN1 RAD51C ATP6V1B2 SLX4 RPL5 RPS19 RPS29 BRIP1 RPL18 MSX2 FANCB TBC1D24 RPL15 SUFU SALL1 FANCL FANCE FANCM UBE2T ADA2 RFWD3 KCNN3 FANCG RPL35A SHH RPS10 FANCA RPL35 RPS7 PALB2 MAD2L2 RPL31 RPS27 KIF7 RPS15A ERCC4 RAD51 TP63 FANCF RPL27 HP_DISTAL_SYMPHALANGISM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM_OF_HANDS GDF5 NOG IHH TFAP2B BMPR1B HP_ABNORMAL_FINGERTIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERTIP_MORPHOLOGY KDM6A SFTPA1 STK11 RAB3GAP2 TCF4 DOCK3 DDX6 RLIM TERC LAMB3 EP300 BPTF ATRX MED12 SFTPA2 STN1 EMC1 MUC5B KMT2E NCKAP1L FOXP1 MYT1L PARN DSP BCOR RASGRP1 ARID1B MED12L KMT2D CREBBP LAMC2 PSMD12 TERT TRMT1 KANSL1 ACTL6B PTH1R BCORL1 TLL1 FBXW11 SVBP PKDCC PSMB8 ATP11A MED13 BMPR1A INTU RTEL1 CD55 NTNG1 TCF20 LAMA3 ABCA3 NAA10 SLC5A6 WAC CTCF FAM13A ACTL6A TANC2 LRBA DPP9 TBL1XR1 PTEN SFTPC WDFY3 CHD1 MAP1B ZMIZ1 ZMPSTE24 TRAPPC4 NLRP3 EZH2 HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES EXTL3 RMRP LONP1 BGN HOXA13 COL2A1 UFSP2 TONSL IHH TRIP11 MBTPS1 MATN3 TRPV4 PIGV HP_CLUBBING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING NME8 SPAG1 SFTPA1 STK11 RPGR HPGD CFAP300 ENG DNAH5 ERCC3 RNF113A RSPH4A DNAAF5 FLNB CCDC151 HLA-DRB1 BRCA1 SFTPA2 STN1 MUC5B NCKAP1L FANCD2 CCDC40 PARN DSP HYDIN RASGRP1 PIGL RHBDF2 SLX4 SMAD4 CDC45 TERT CCDC114 BRIP1 FANCB SCNN1A LRRC56 IL6ST ACVRL1 GTF2E2 PSMB8 ATP11A CCDC103 BMPR1A INTU RTEL1 CD55 ZMYND10 MARS1 CFTR CFAP221 FANCM ABCA3 CCNO SLC5A6 DNAAF6 SPEF2 CFAP298 PALB2 LRBA LRRC6 DRC1 ERCC4 ERCC2 SFTPC VPS51 STK36 RSPH9 NEK10 TARS1 CCDC65 NLRP3 SFTPB DNAAF4 FANCF DNAAF2 GTF2H5 PRKACB RSPH1 ABCA12 GAS2L2 TTC12 GAS8 SLCO2A1 FANCI TERC TTC25 XRCC2 ATRX BRCA2 ARMC4 DNAL1 DNAH11 TCF4 DNAH9 FANCC RAD51C SMARCAD1 PTH1R DNAI2 KRT10 TLL1 MPLKIP SCNN1G DNAAF1 FANCL FANCE DNAH1 SMARCA2 UBE2T GJB6 UBE2A RFWD3 DNAJB13 MCIDAS FANCG FAM13A FANCA MAD2L2 DPP9 SCNN1B FOXJ1 PTEN OFD1 CCDC39 RSPH3 BTNL2 DNAI1 RAD51 DNAAF3 POLA1 HP_AUTOAMPUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION SPTLC2 RETREG1 ATL1 CCT5 KIF1A KRT1 TGM1 RAB7A NGF GJB2 WNK1 SCN9A SPTLC1 MPV17 NTRK1 HP_ABNORMALITY_OF_THE_THENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE FGF10 FGFR2 HOXA13 ADA2 SALL4 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 FGFR3 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 RPS15A TBX5 RPL11 FBXW11 RPS19 RPS29 RPL18 RPL27 HP_BROAD_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METACARPALS EXTL3 GNAS MMP14 FBN1 SLC26A2 MMP2 BGN BMPR1B DNMT3A GDF5 PDE4D ADAMTS10 NPR2 IHH FGFR1 DDR2 HP_ABNORMAL_FINGERNAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY CLIP2 RPS6KA3 HPGD SOX4 SOST RNF113A PTDSS1 TP63 WNT5A IFT122 ARID2 CASR PIGN RTEL1 CCDC22 ARID1B EOGT SUZ12 PLCD1 KDF1 NOTCH1 WDR35 KRT1 TRPV3 SRCAP LIG4 PLAGL1 TERT TBC1D24 RBPJ GTF2E2 ZNF462 GTF2IRD1 GTF2I ITGB4 PITX1 PKP1 MSX1 HYMAI EDAR IKBKG COL11A2 RFC2 EVC COL7A1 KRT9 STAT3 GLI1 KCNH1 KRT14 KRT74 ROR2 INPPL1 TBL2 LMX1B TFAP2A BMPER SLCO2A1 WASHC5 GPR101 WNK1 COL11A1 AIRE SMARCE1 ARHGAP31 SMARCA4 ATP6V1B2 SLC39A4 CTSK DVL3 WNT10A SHOC2 EZH2 LIMK1 MPLKIP MBTPS2 SF3B1 DVL1 EVC2 CLEC7A CTC1 LBR WRAP53 HUWE1 TBX3 FZD2 NHP2 CSTB TET2 TRAF3IP2 DKC1 MAP2K2 PEX6 GJA1 DLL4 CENPT AIP ERCC3 PLEC DPF2 TERC UBA1 EDARADD KRAS SHOX NXN HRAS EED EBP BRAF GNA11 USB1 SCN9A SOX11 IFT43 KRT17 CTSC PEPD WDR19 IL17RC SMARCD1 KRT16 KCNN3 MAP2K1 PARN DYNC2LI1 ZMPSTE24 ZBTB20 PPP1CB ERCC2 TARS1 GTF2H5 RUNX2 TINF2 NSUN2 HMGA2 NPM1 IL17RA TRAF6 IFT52 DOCK6 LRP4 IL17F PERP AFF4 ARID1A NOTCH2 GJB6 EFNB1 BAZ1B NECTIN1 ELN NSD1 PLAG1 NOP10 PEX1 IL11RA GDF5 RETREG1 MACROH2A1 SMARCC2 SLC35D1 IGF2 KCTD1 BMPR1B CDKN1C COL17A1 GJB2 KRT6B SMARCB1 KRT6A KIF1A LMNA HP_2_3_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_FINGER_SYNDACTYLY GPC4 PITX1 FGF10 LRP4 FGFR3 SOST WDPCP GPC3 FGFR2 HP_SLENDER_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_FINGER ABL1 BNC1 CHRNG SH2B1 PIEZO2 NUP107 FSHR MAT2A TBX1 PSMC3IP FGFR3 MED12 SCARF2 FBN2 ATRX TGFBR2 PRKG1 SLC9A6 SIN3A PRDM5 LETM1 TRMT10A USP9X COMT ASXL3 COL11A1 SKI CHST14 UFD1 BPTF SLC2A10 ACTA2 AMER1 COL6A3 MAPK8IP3 WDR73 KANSL1 NR5A1 STUB1 COL3A1 EFEMP2 TGFBR1 COL2A1 FBN1 SMAD4 FARSA NALCN FLNA B3GALT6 PQBP1 COL12A1 PYCR2 PTCH1 SEC24C CRKL EFTUD2 SOX6 B4GALT7 CTSC PEPD ZEB2 UPF3B CBS HYOU1 SMAD3 NSD2 VPS13B DSE HERC1 BMP1 FGFR2 RREB1 MFAP5 POR FOXE3 MAPK1 ELN MYH11 NPR2 TGFB3 HIRA PTCH2 ACTG2 POLR3H SPIDR MYLK NKAP BCR SATB2 MIR140 UBE3B ALG14 NARS1 UNC80 AEBP1 GP1BB COL6A2 ARVCF OSGEP ZDHHC9 NELFA BMP15 SON PPP1R15B OTUD6B SMARCE1 COL6A1 SUFU PLOD1 FBLN5 DLG4 LOX MTM1 CYP26B1 TGFB2 MRPS22 ZNF469 C1R SMS LAGE3 JMJD1C CNTN1 PACS1 LFNG HP_WRIST_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRIST_FLEXION_CONTRACTURE ESCO2 ERLIN2 ANO5 FLNA TUBB3 RTL1 PRG4 MEG3 DHX16 CAPN3 TBX15 DDR2 HSPG2 DLK1 MAP3K7 MMP2 MYH3 ADAMTSL2 HP_CAPITATE_HAMATE_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPITATE_HAMATE_FUSION FLNB GLI1 FLNA FGFR3 EVC2 EVC ATP7A DYNC2LI1 HP_SMALL_THENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_THENAR_EMINENCE TBX5 FGF10 FBXW11 FGFR3 SALL4 FGFR2 HOXA13 HP_LETHARGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHARGY NDUFA11 NDUFS4 MMADHC NODAL OTC CDKN1A EIF2B1 ACADM SLC25A15 GCSH LYRM7 SLC5A5 TIMMDC1 NFU1 NDUFS7 TSR2 NDUFV1 CYP11B2 DISP1 CPT1A NDUFS6 BTD MMACHC HNF1A SLC19A2 HNF4A TGIF1 SIX3 MCCC2 NDUFS2 MAGEL2 KRT18 ACADVL HAMP AMT ABCC8 ABAT HFE NDE1 ADA2 TRHR ATP5MD NDUFB10 USP18 SLC25A22 SLC25A13 RPL35 RPL15 MT-ND2 NAGS MTHFR RPL31 DPYS MEN1 SLC2A1 SLC1A2 MT-ND1 SMC1A SHH SLC7A7 ASS1 FBP1 CDKN1B MCCC1 GLI2 COX5A GATA1 NDUFAF2 RPL26 EIF2B2 ATP13A2 STAG2 SIM1 MT-TT HADHB TH ABCD4 CDON NDUFA1 POLG2 EIF2B3 MT-ND3 PTCH1 NDUFAF5 DLL1 BOLA3 ASL NDUFAF3 AVP SIK1 GAS1 NDUFS3 NDUFB11 NDUFB3 HLCS CYP24A1 SLC22A5 ALDOB HADHA GK PCCA NDUFA6 GLDC RPS15A MT-CYB FGFR1 FOXH1 NDUFV2 CPS1 PRDX1 ZIC2 RPL27 TDGF1 DPYD MMUT NDUFAF1 NAXD FOXRED1 CDKN2C EIF2B4 SLC25A20 RPS17 RRM2B MTRR HADH RPL11 BNC2 ACADS RPS19 TMEM126B TWNK MRPS16 NAA10 USP8 MMAB NDUFS1 TLR3 GABRB2 CDKN2B NDUFS8 ATP5F1D SLC39A4 CPT2 GCH1 LMBRD1 EIF2B5 RPL35A RPS10 BCKDHA RPS7 FGF8 TCN2 NUBPL POLG ASPA NDUFB9 MMAA SLC25A19 NDUFAF4 GYS2 UCP2 SLC4A1 TBK1 RPS24 BCKDHB CDH23 KCNJ11 RPS26 RPS28 HMGCL HJV RPS29 RPL18 NBAS DLD GALT KRT8 PAX8 DBT ACADSB NDUFAF8 RPL5 PDHA1 RMND1 RYR1 RPS27 CA5A PCCB IVD SLC25A4 HP_INTELLECTUAL_DISABILITY_MILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MILD DCPS IQSEC1 WDR48 FKRP POLA1 TBX1 PRMT7 QRICH1 ABCC9 BCOR TTC37 MGP C12orf4 PHF8 DPYD GRIN1 ACP5 PIEZO2 THOC2 GLB1 KANSL1 ZMYND11 SELENOI PRPS1 NTNG1 MAGEL2 TAF13 AKT1 FBXW11 DCC SEC24C SNRPN SLC29A3 PSMB8 TAOK1 SLC35A3 NSDHL MYT1L B4GALNT1 DNAJC12 NTN1 FRRS1L ACTL6A GNPTG KCNJ8 MSTO1 NDN ANK3 DLK1 ASH1L PRRT2 SPEG CRADD RPS23 BPTF SFXN4 MECOM BRF1 DEAF1 FBN1 DOCK3 IGF1 WASHC4 MAN1B1 AGL SLC2A1 SLC45A1 MEG3 SETBP1 GP1BB TBC1D24 BRSK2 RAB3GAP2 MAP3K7 CARS1 ABCA2 MASP1 HINT1 SKIV2L NUP62 TRIO FBXO31 GRIK2 SARS1 GPAA1 GRIA3 CPLX1 TCF20 PTPN11 CDH15 C12orf65 NARS2 EXT2 SMS HUWE1 KIF1A SPTBN2 DOCK8 SUFU CAMTA1 L1CAM YY1 TAC3 ZC3H14 MARS2 RAB11A MED12L STXBP1 FLNA NSUN2 RTL1 KDM5B MTHFD1 KIF1C CRBN SRPX2 TTN NFIX HDAC6 CLTC WDFY3 FAT4 KMT2E DNMT3A COMT COG5 MECP2 HMGA2 CLCN4 MT-TL1 KLF13 HIVEP2 GMPPB MED25 MT-TL2 CTDP1 PPP3CA DYNC1H1 PEX11B TRPM3 FLCN CHRNA7 ERMARD PGAP1 PSMD12 SRP54 ALX4 DLAT AASS EDC3 POLR3B DONSON ATP2A2 DCAF17 C12orf57 BIN1 BRAF LMAN2L SRY NONO ACTB GRIN2B KCNQ5 SLC25A24 MLC1 CAMK2A PCNA HPD PGAP2 EXOSC2 FGD1 KIRREL3 KCNQ1OT1 OCA2 ERCC8 H19 PTEN RTN4IP1 ST3GAL3 GABBR2 NSD1 EEF1A2 BRWD3 MAN2B1 SET ARX RSRC1 GORAB ZFR GALT FGF14 CIC GATA4 CDKL5 NTRK1 TECR NRAS ZC4H2 RAF1 POMT2 HEPACAM PNPLA2 PIGC KIF11 NGF GNE NFE2L2 RNF135 UBE3A AFG3L2 SCYL1 MARS1 SBDS APC PQBP1 ERCC6 MBOAT7 DNAJC3 DNAL4 RNU4ATAC CLIP1 UFD1 PYCR1 STAC3 BSCL2 AMER1 MT-ATP6 FIBP TRMT1 MBD5 ACTL6B PAFAH1B1 CDK6 DHTKD1 NDST1 LEMD3 PIK3CA MED23 PLP1 SETD1B ZNF462 MED13 BMPR1A POGZ CSNK2B ARID1B RREB1 DNAJC21 THG1L TANC2 SOX3 CACNG2 PCDH19 PRSS12 HIRA GLI3 ERCC4 CAMK2B PNPLA6 FMN2 ADAR DAG1 DDX6 PEX10 ADAMTS10 ATL1 LMNB1 LTBP2 FOXP1 TH COG1 POMK GTPBP3 NAGA POU3F4 CA8 HPRT1 RYR1 FTSJ1 SETD2 METTL23 MSMO1 EPB41L1 ACVR1 JMJD1C SYNGAP1 ZMIZ1 ACAT1 FMR1 ANO10 SPART RSPRY1 EP300 CC2D1A SIN3A POMGNT1 SHH KCNC3 DARS1 HNMT SARDH JAG1 TKT B3GALNT2 SVBP SOX11 TUSC3 APC2 AP3B1 TNIK WAC EZR NKX2-1 TFAP2A VPS13D LINS1 CEP57 RARS1 BLM DMPK AIMP1 RLIM MT-TN RAD51 ARVCF IGF2 ACOX2 RAI1 SDCCAG8 GBA2 LRP5 HMGCL TRAPPC9 NF1 DYRK1A POLR3A PDSS1 BCORL1 GPSM2 CUX1 CHAMP1 FGFR2 DMD RUBCN TFAP2B EYA1 POMT1 TCF4 TRAPPC4 TSPAN7 HP_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTICITY DCPS CLIP2 NDUFA4 NODAL PDHX TUFM UNC80 TRAK1 WDR62 NDUFA13 ACER3 MCOLN1 SYNE1 AP4M1 FDXR PPARGC1A DHPS MAG LYRM7 NADK2 KIF5A BCS1L SLC1A2 C12orf4 SPATA5 DISP1 KCNA1 XPC DDB2 GRIN1 ACP5 RTN2 THOC2 CYFIP2 EPM2A ATP13A2 PHACTR1 PIGQ MRPS22 SOX10 DNMT1 SIK1 NPC2 SLC25A10 TBC1D20 CNPY3 ARSA FRMPD4 SEPSECS SPG7 SLC12A2 GBA2 SPART PMPCB HTRA1 TGFB1 B4GALNT1 NDE1 CTSD SIX3 PEX10 MRM2 NSUN2 MECP2 ARX NDUFA12 HPDL ANK3 FUCA1 HEPACAM MT-TV RPIA TANGO2 POU3F3 PDHA1 FDX2 RNASEH2B SPTAN1 PCYT2 TBL2 GABRA2 FXN WASHC4 PAFAH1B1 SLC2A1 SLC45A1 GFM2 ZFYVE27 GALC TIMM50 MTO1 BRSK2 DSTYK LMX1B LIPT1 MRE11 CSF1R TXN2 KCNA4 DYNC1H1 RUSC2 PMPCA PYCR2 OCLN CYP2U1 ECHS1 MYO5A SDHA GOT2 PSEN1 KANK1 NUP62 ERCC1 FBXO31 GLB1 RAB3GAP2 LIMK1 CLPB VAMP1 PTCH1 DLL1 SARS1 GPAA1 GRIA3 MSL3 FIG4 GAS1 PEX3 SCN1B FOXG1 ALG11 NDUFS2 MTFMT CKAP2L CACNA1A C12orf65 CCNF NARS2 PANK2 ATAD3A LAGE3 ODC1 TACO1 GBE1 SPTBN2 CARS2 SIL1 NDUFA9 PON2 ZC3H14 YWHAG MARS2 RAB11A MED12L STXBP1 CCDC88C HMGCL KDM5B PEX12 KIF1C TARDBP PCDH12 NOVA2 EPRS1 ARL6IP1 PAX3 TYROBP PTPN23 MOCS1 GNAO1 TUBB3 SIX6 PIGA CHMP1A REEP1 COL4A1 UFM1 KCNB1 RLIM FA2H CLCN4 SLC30A10 SOD1 MED25 GPT2 VPS13C ERCC2 KATNB1 AUH CAMK2A AARS1 TECPR2 SERAC1 UGDH TRPM3 GRIN2D TDGF1 BSCL2 L1CAM NTNG2 NDUFAF6 MT-ND2 DNAJC6 MAN1B1 ABCD1 PQBP1 AP4S1 BICD2 SAMHD1 TMEM67 B4GAT1 EXOSC3 CYP7B1 EDC3 SLC16A2 L2HGDH OPA1 AP4B1 GBA AIFM1 SLC6A5 BEAN1 ALDH18A1 ATXN8OS GTF2H5 NDUFV2 NUS1 KLC2 RAB3GAP1 EXOSC8 KCNT1 KIRREL3 HACE1 FGF8 MCCC1 ST3GAL3 ROGDI ATXN3 PLA2G6 SLC19A3 ATP7A NDUFB8 CACNA1D TAF1 ERCC5 RNASEH2A CLIC2 GABRA5 NDUFAF4 EEF1A2 GJA1 SCN3A ASNS DDX3X METTL5 HSD17B4 SET RSRC1 GLI2 CTNNB1 OPHN1 MT-ND5 ZFR ZEB2 ELN CIC GLRX5 COQ5 AIMP1 FGFR1 SRPX2 IREB2 ACTL6B ZIC2 CIT HNRNPA1 PRKN KCNQ2 ATP6V0A2 ERCC4 INTS8 DCTN1 AMACR KIDINS220 SQSTM1 NAGA NKX6-2 COA8 TSEN2 SELENOI MT-TP HLA-DQB1 SEC31A NDUFS4 CACNA1G DNM1L ALS2 SURF1 VPS37A RNF113A NTRK2 SLC25A15 MBOAT7 SYNJ1 FLNA SCN2A CLIP1 VPS53 POLR3A MT-ATP6 ERCC6 SUZ12 GAD1 COL4A2 SLC25A12 MBD5 GABRB2 NDST1 FUS MED23 PLP1 CPT1C GTF2IRD1 EPHA4 SZT2 CRBN ADAM22 CSNK2B AP4E1 DHDDS IKBKG RFC2 PNPLA6 DARS2 WDR45B MTHFR GLYCTK AFG3L2 PTS GRIN2B NALCN PEX14 MCCC2 PDCD1 EZH2 PPP3CA C19orf12 ADAR SOX4 PGAP1 KCNJ6 DENND5A ERLIN2 LIPT2 RNF13 TFG PRPH SPG21 SNCA TCTN2 NEK1 APC2 PSAT1 HCN1 CDK19 SON FOXP1 SOX2 CNOT1 TAF2 AGTPBP1 AP5Z1 DCX PON3 FARS2 PNP PET100 TSEN54 LINGO1 IDUA EML1 TUBG1 MT-ND6 BOLA3 MT-TL1 COASY METTL23 POLR3B ADAT3 NEFH EPB41L1 NEUROD2 TRAPPC4 NAA10 GDAP2 CYB5R3 DAO KDM5C INPP5K SYNGAP1 FOXH1 STN1 ATP6AP2 ADSL MFN2 EIF2AK2 VAPB ERCC3 ABCC8 CRLF1 ZNF592 EARS2 SDHD CC2D1A PODXL HSD17B10 GPHN HLA-DRB1 EIF2B4 ALDH3A2 BCOR TBCD ENTPD1 PRDM8 CASK TUBA1A OPA3 TRIM8 STUB1 NR2F1 SHH ATRX HPRT1 TMTC3 NHLRC1 TOE1 HTRA2 TREX1 GAN ZC4H2 SLC17A5 CDON GJC2 SPAST GRIA4 PFN1 GLE1 COPB2 KIF11 TPI1 TARS1 POLG COX15 SATB2 ASPA AARS2 LYST SLC13A5 ATP2B3 CCT5 PHGDH MED13L KIF1A STAG2 MFSD2A TSEN15 WDR73 PRNP ATM IBA57 COX8A PSAP HSPD1 TRAPPC9 LMNB1 ATXN2 TSEN34 CFAP410 CHP1 ZFYVE26 FBXO7 BAZ1B GJB1 NSD1 DNAJC19 WARS2 PON1 CAPN1 LAMB1 TRIT1 RARS1 TGIF1 RANBP2 TMEM231 NPC1 GCDH ITM2B PIGU PCLO PARK7 STAMBP PEX2 GATAD2B RAD50 ANG IQSEC1 ARV1 IFIH1 WDR48 HTT ATXN10 ABHD12 FBLN1 ERLIN1 ELOVL4 NEXMIF UCHL1 PEX19 SCYL2 TP53RK AP1S2 GABRG2 WWOX PRPS1 TRMT10A KY ATL1 GLRB TELO2 MT-TF ANKLE2 CYB5A SLC33A1 ZMYND11 SUMF1 NTNG1 NECAP1 PINK1 NUBPL PEX1 TAOK1 ISCA2 SMPD1 GTPBP2 NEU1 GTF2I SCN8A SETBP1 MYT1L FRRS1L TDP1 RETREG1 SETX ASH1L PRRT2 NACC1 VCP SACS SPR TBCE PRUNE1 CRADD SMC1A AGA COG2 SPG11 DEAF1 OTUD6B AUTS2 SNX14 CTNNA2 GSS MT-ND1 GFM1 FTL GLRA1 SLC25A22 TPK1 OPTN DYNC1I2 EIF2B2 PPP1R15B SDHAF1 PEX13 UFC1 UBQLN2 WDR26 HIKESHI DHCR24 PLAA EIF2B3 SHMT2 RAB18 SLC18A2 ADD3 CYP27A1 GRIK2 MPLKIP IRF2BPL MICOS13 SLC39A14 SIGMAR1 MT-TK CDH15 UBA5 KCNA2 NOTCH3 KIF5C IARS1 RNASEH2C KIF2A DDHD1 DOCK8 UBTF CDKL5 NDUFV1 ATXN7 PEX11B RAB11B MED17 RFT1 EIF2S3 TBP CNTNAP1 ARF1 CLTC FOXRED1 CACNA1E EED VWA3B HIVEP2 TREM2 NDUFAF3 PEX6 AMPD2 SLC1A4 PEX7 OSTM1 SLC5A6 TTR GUF1 TBK1 DMXL2 WASHC5 REPS1 LMAN2L ATAD1 YIF1B KCNQ5 MLC1 ATP6V1A MT-TW NDUFS7 MAN2B1 NDUFA6 CHMP2B PPT1 OSGEP SLC35A2 GABBR2 MACF1 ADGRG1 RALGAPA1 XPA TBC1D23 RNASET2 CNKSR2 ERBB4 NDUFAF2 NT5C2 NDUFAF5 TECR ADARB1 ATP6V1E1 PARS2 SDHB UGP2 DNM1 PIGC EXOSC9 NDUFA2 ERCC8 KMT2B SCYL1 MT-ND4 MARS1 APC RPS6KA3 EIF2B1 MAPT MTPAP EXTL3 NIPA1 UNC13A PEX5 CTC1 BTD CHCHD10 ACP2 GLT8D1 REEP2 RAB27A MAPK8IP3 NDUFA10 MRPS34 GTF2E2 LIAS FLRT1 POLR1C MOCS2 GM2A CACNG2 C9orf72 TRMT5 PRSS12 PNPLA8 ARSI PNKP COLGALT1 ASAH1 CAMK2B MTHFS BCL11B UBAP1 FMN2 PIGN JAM3 DDHD2 PUM1 ARG1 ZNF335 TCF20 CLP1 PEX26 TRAPPC12 KRAS ISCA1 TUBGCP2 ELP2 TUBB4A RNU4ATAC POLA1 CNP NDUFS8 VPS11 NDUFS1 TAF15 RTTN FAR1 GRIA2 ACAT1 GFAP GRM1 FGF12 LRRK2 SLC6A8 MECR PIGP DARS1 HNMT EXOC8 DALRD3 B3GALNT2 NDUFS3 MT-TI MFF TUSC3 NEFL SVBP SUCLA2 EIF2B5 TNIK EZR AP3B2 TTC19 PEX16 DEGS1 MATR3 VPS13D LINS1 RERE ANXA11 NUP214 GSX2 HUWE1 ATXN1 TPRKB RARS2 WDR4 SLC52A2 CACNA1B WDR45 TMX2 EDNRB SNORD118 PLCB1 CUX1 PI4KA CHAMP1 USP8 DLD MT-ND3 TCF4 TIMM8A ARNT2 CNTNAP2 SCO2 POMGNT1 HP_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPLEGIA GJC2 NT5C2 SPG11 NDUFA4 PNPLA6 DNM1L PDHX MARS1 SURF1 SLC2A1 WDR48 ALS2 NDUFA13 VPS37A AP4M1 SPART PAX3 SLC25A15 KIDINS220 ARL6IP1 MAG CYP7B1 KIF5A IBA57 ECHS1 AP5Z1 NIPA1 KY FOXRED1 GPT2 FA2H RTN2 DSTYK ATP13A2 REEP1 NDUFA10 DDHD2 SLC33A1 SELENOI STXBP1 KIF1A SPG7 ZFYVE26 TECPR2 NDUFS3 CPT1C ATRX AMPD2 PLP1 GBA L1CAM PET100 GBA2 MTFMT NDUFAF6 FLRT1 BSCL2 B4GALNT1 ABCD1 CCT5 AP4B1 AP4E1 AP4S1 TACO1 SPAST ALDH18A1 NDUFA12 WDR45B SETX HPDL SLC16A2 WASHC5 ARSI VCP GAN AIFM1 ERLIN2 PDHA1 HSPD1 COX15 KDM5C MAN2B1 RNASEH2B NDUFV2 UBAP1 LYST KLC2 NDUFS7 UCHL1 ATL1 C19orf12 TFG HACE1 ZFYVE27 SPG21 SLC19A3 RAB3GAP2 CACNA1D C12orf65 ENTPD1 CYP2U1 MT-ATP6 FARS2 NDUFS2 SDHA TOE1 OPA1 ZFR VAMP1 NDUFAF2 NDUFAF5 PEX3 CAPN1 LAMB1 PGAP1 NDUFS8 NDUFS1 USP8 LIPT1 INTS8 NDUFS4 REEP2 GBE1 DDHD1 NDUFA9 NDUFV1 NDUFA2 HP_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMA ACAT1 SLC7A7 UNC93B1 ETFA HMGCL NDUFS4 OTC MMUT CDKN1A ABCC8 ACADM SLC25A15 GLUD1 STAR STAT3 EIF2AK3 ATP7B CDKN2C CFHR1 INSR HLCS CPT1A SLC25A20 KYNU NAXE HNF1A HNF4A MCCC2 CACNA1A PRF1 ETFDH PDX1 MMAB CTNNB1 CDKN2B ETFB SCN1A TRAF3 IL18BP BCKDHA MEN1 SLC25A13 MC2R NAGS ALDOB TLR3 AUH POLG ASS1 TICAM1 FBP1 CDKN1B MCCC1 ATP1A2 MMAA HADH UCP2 CPT2 CFH BCKDHB TBK1 KCNJ11 TXNRD2 HADHB APP RANBP2 INS GCK AKT2 MRAP ASL SLC19A3 HMBS DBT BRAF NNT SLC22A5 PRRT2 HADHA GK PCCA TRDN PCCB NFKB2 IVD CPS1 CFHR3 PPOX HP_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSARTHRIA CLIP2 GCLC JAK2 NDUFA4 ANOS1 SLC2A1 SQSTM1 NDUFA13 ATXN10 ABHD12 PPP2R2B SYNE1 FBLN1 ERLIN1 AP4M1 TMEM240 CHD3 SETX PDGFRB LYRM7 WWOX PMS2 ATXN7 TTPA NDUFS7 KRAS ATP7B ATL1 PROKR2 MED13L CACNB4 ALDH18A1 FUS EPM2A ATP13A2 MAPT DMXL2 VCP IL17RD SELENOI CAPN1 NPC2 BEAN1 TOP3A SPG7 NUBPL ARSA ATXN2 PET100 GBA2 SYT14 XRCC1 KCNA1 SPART GTF2I HTRA1 GSN IFRD1 B4GALNT1 ATXN3 TGM6 ADH1C AFG3L2 NSUN2 TDP1 UBQLN2 MSH6 NDUFA12 NUS1 SLC35A1 VPS13A EEF2 HEPACAM RPIA GAN SACS TANGO2 SPR SPEG TBCE COQ2 RUBCN MYORG SLC20A2 OPA3 ABCB7 PDHA1 NKX2-1 ADCY5 EPCAM SOS2 AR MLH3 NDUFS8 SPG11 PDE10A CHD2 TBL2 FXN TRIM37 GSS MAG ADPRS GFM2 GALC SOS1 FTL TBC1D24 TBK1 TRAPPC11 RAB3GAP2 SCARB2 HESX1 MRE11 DYNC1I2 KCNA4 THAP1 EIF2B2 PMPCA CARS1 ABCA2 PSEN1 GPAA1 FGF8 PLD3 TREX1 POLG2 NUP62 EIF2B3 ERCC8 SLC18A2 LIMK1 VAMP1 MPLKIP TPP1 IRF2BPL CPLX1 C12orf65 DCAF17 UBA5 NFASC HSD17B10 POLG RNASEH1 NOTCH3 NARS2 SLC44A1 PANK2 MRAS TACO1 ATP1A3 SPTBN2 SIL1 NDUFA9 SUFU CAMTA1 UBTF PDE8B NF2 NDUFV1 NOP56 GFPT1 MARS2 SNAP25 GJC2 PRDM8 CHRNE PDYN CCDC88C KIF1C TARDBP RFXAP SURF1 PIEZO2 RRM2B KCNC3 DCC CISD2 ELOVL5 STUB1 NR4A2 OPTN TTN CACNA1A SEMA3A GLRX5 ECHS1 GRM1 REEP1 FOXRED1 FA2H AAAS RFC1 VWA3B SLC30A10 C9orf72 JAM2 PRPS1 GPT2 TWNK ERCC2 AUH GJA1 DAB1 TECPR2 FBXL3 PEX10 WIPI2 NDUFAF6 HOXB1 AP4S1 PGM3 WDR11 TTR CYP7B1 MAP2K1 POLR3B ACBD5 ITPR1 SLC16A2 PLP1 ERCC3 CHCHD10 PRNP SYNJ1 AP4B1 BIN1 REPS1 RFXANK FMR1 PSAP CHRNA1 NOTCH2NLC NONO COX20 NSMF ATXN8OS GTF2H5 NDUFV2 GRIN2A KLC2 XK PNKP MAN2B1 DCTN1 LRP12 CLN5 HACE1 CACNA1G CSTB PLA2G6 SLC19A3 ERCC5 SERPINI1 PRKCG FGFR1 ADGRG1 PUS3 DNAJB6 TACR3 KCTD17 HSD17B4 NDUFS2 TBC1D23 SDHA WDR81 ARX RRAS GALT FGF14 ELN NDUFAF2 PRKRA RIT1 NDUFAF5 SLC9A1 SRPX2 NDNF PCNA ELOVL4 SNCAIP AMACR BMPR1A GJB1 NKX6-2 KISS1R PACS1 NDUFA2 SEC31A KMT2B NUTM2B-AS1 WFS1 ALS2 EIF2B1 RNF113A CTSF PPP1R15B MTPAP RRAS2 NRAS RASA2 FGF17 GCDH MKS1 ABCD1 CTC1 THPO TTBK2 STAC3 ATCAY CP POLR3A MT-ATP6 TK2 NDUFA10 GLUD2 FEZF1 SOD1 HEXB DLAT FAN1 KCND3 GTF2E2 FOXP2 GTF2IRD1 FLRT1 PDGFB CNOT1 AP4E1 THG1L RFC2 MICOS13 SPAST DARS2 SNCA CYP27A1 PLEKHG4 PNPLA8 PRICKLE1 EZH2 C19orf12 ANO10 FIG4 ADAR ATP1A2 ERLIN2 A2ML1 DDHD2 PUM1 MYOT PRPH RAF1 SPG21 LMNB1 ADA2 FAM126A RFX5 SCN8A ENTPD1 DCX VAPB GRHL3 CA8 GLE1 TUBB4A RYR1 CIITA ATXN1 COASY GRID2 GDAP2 PNKD SCO2 NDUFS1 KCTD7 RTTN LIPT1 HS6ST1 INPP5K GOSR2 CBL TUBB3 MSH2 CCDC141 ATN1 TOR1A MAP2K2 RNU12 VLDLR EIF2AK2 ATM ERCC4 ZNF592 TGFBR2 CHD7 GBA SLC1A3 MME FAT2 MPL EIF2B4 MECR PIK3R5 COLQ BRAF ZFYVE26 MMUT PTPN11 NDUFS3 SLC6A1 HPRT1 NHLRC1 MVK MTFMT SCN1A SAMD9L ATP8A2 COA8 ZC4H2 EIF2B5 WAC RAB39B DNAJC6 SLC17A5 UBB XPR1 TTC19 TMEM106B PFN1 ELOVL1 DEGS1 MATR3 CSF1R UROC1 VPS13D RERE MLH1 TARS1 RARS1 CLN3 COX15 PEX2 AARS2 GNS DMPK PCGF2 PIK3CA ATP2B3 SLC13A3 NEK1 XRCC4 DRD3 TBP RNF216 PMS1 WDR73 SOX10 AP2M1 RAI1 HPCA HMGCL SLC52A2 APTX RANBP2 SMS FBXO7 PABPN1 BAZ1B FLRT3 DUSP6 HMBS SPRY4 RPS20 SNORD118 PEX16 LZTR1 PROK2 ALDH3A2 PI4KA COA7 PRRT2 NPC1 CACNA2D2 MTTP JPH3 NDUFS4 SEMA4A NEFH CWF19L1 MT-TE EBF3 TIMM8A FARS2 PEX6 ZBTB11 SLC25A4 HP_EXCESSIVE_DAYTIME_SOMNOLENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_DAYTIME_SOMNOLENCE HTT ACAT1 UNC93B1 MOG HMGCL IL12A FKTN RAPSN TICAM1 TRAF7 DMPK TERT HLA-DQB1 DOK7 TWNK FBP1 NF2 SMARCE1 PDGFB SLC2A3 POU2AF1 HLA-DRB1 TBK1 CLCNKB SPIB MTRR ZNF365 TNFSF4 HCRT MMEL1 MUSK PRPS1 P2RY11 NAA10 TBC1D24 CTNNB1 SLC18A3 IRF5 TNPO3 TNFSF15 AKT1 SLC12A3 PTS NUP88 HMBS MYOD1 POMT1 CTSH BRAF POMT2 TRAF3 DNMT1 SLC22A5 BAP1 SUFU DHCR7 DPYS TLR3 PIK3CA FKRP GJB1 COA8 SMARCB1 IL12RB1 LARGE1 SMO HP_SPASTIC_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DIPLEGIA NTRK2 ADD3 GLRX5 RAB3GAP1 SIGMAR1 HUWE1 PDHX GALC NDE1 NAA10 AP1S2 ALDH3A2 ATRX PQBP1 HSD17B10 SIX6 TAF1 FLNA SOX2 BCOR GCDH ACP5 PSAP ALS2 TUBB3 TANGO2 PNP GAD1 RAB3GAP2 SPG11 HSD17B4 CTNNB1 NDUFA4 ELP2 FUS HP_HYPOREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA LYST GRIA3 ARV1 TRAK1 SQSTM1 SCN9A ATXN10 ABHD12 TMEM240 SUCLA2 GCSH SETX QRICH1 GABRG2 MAG TINF2 SHANK3 WWOX FHL1 SLC1A2 PMP22 FUS LARGE1 VCP NDRG1 LITAF SOX10 NECAP1 ARSA PDHB TBC1D24 GBA SMPD1 SCN8A NEB IFRD1 B4GALNT1 FKRP MYH7 RETREG1 MSTO1 MPZ GNAS NEFL NEFH SLC35A1 SYT2 DCAF8 MT-TV GAN B3GALNT2 RUBCN FDX2 AR GABRA2 DEAF1 TSPYL1 SNX14 MT-ND1 TRPV4 GABRA3 ARHGEF2 TBK1 NGLY1 MRE11 REEP1 SNAP25 DYNC1H1 AIFM1 PDK3 HADHB SYNE1 FKTN POMT2 POLG2 ADSS1 SLC5A7 PNKP CNTNAP2 MPLKIP CHAT SCN3A KCNJ18 SEPTIN9 NFASC KCNA2 COG7 AGRN SNIP1 NDUFA1 CACNA1A POLG NARS1 NARS2 TRAPPC11 ATXN2 ACTA1 CLCNKA MT-TK GALC YWHAG PRX SLC18A3 PIGG SBF2 VAMP1 GRIN2A TDP1 RRM2B KLHL41 PIGB POMK TWNK HSPG2 CNTNAP1 PMM2 IBA57 GARS1 COL13A1 KCNB1 PSAP COL4A1 MCM3AP AARS1 FGD4 GRIN2D SLC25A1 PEX10 DHH MT-ND2 TUBA8 BICD2 TTR RTEL1 IGHMBP2 SZT2 FASTKD2 CHCHD10 CACNA1S ERCC2 ACD FMR1 BEAN1 MPV17 HK1 ABCA1 SYNJ1 ST3GAL5 TARDBP GTF2H5 NUS1 TK2 VAPB MT-TW KLC2 SLC25A4 DOCK3 LMNA MME POMGNT1 LAMB2 PRKCG UBA5 NAGLU DES FIG4 XPA HSD17B4 TBC1D23 WDR81 CRYAB MT-ND5 GEMIN4 CNKSR2 TGFB3 RYR1 GABRA5 MYPN DAG1 PEX1 TPM2 TBCK ELOVL4 TRMU ACTL6B LRP4 MFN2 DNM1 PHYH PEX12 EXOSC9 MED25 PPOX SCYL1 MT-ND4 NDUFS4 ATP6AP2 PEX5 RNF113A HNRNPDL NTRK2 PODXL ACO2 KIAA0586 MTPAP EXTL3 SELENON FLII KIF1A PARN ELP1 TPM3 VPS33A RFC1 RXYLT1 GABRB2 RAI1 PGM3 LPIN1 KCND3 GTF2E2 AMT TRIM32 TERT MEGF10 FLRT1 LDB3 ZSWIM6 DNM2 OTOG STXBP1 TRMT5 DARS2 DMD MGME1 NDUFA9 SLC25A46 POMT1 CRPPA SIGMAR1 FBXO38 C19orf12 PNPLA6 CLTC PIGN DYSF SNRPN NRXN1 MYOT GDAP1 FLI1 GNB4 HCN1 CDK19 BSND SYNGAP1 ALDH5A1 ATP7A SMN1 ATP6V1A LMOD3 PLP1 HSPB1 ERCC6 MT-ND6 ATXN1 HSPB3 FLNC STIM1 MT-TL1 MT-ATP6 RNF170 NOTCH2NLC IQSEC2 CFL2 WARS1 INF2 DNMT1 SMN2 HADHA PTRH2 MT-TE GLDC INPP5K ATP1A1 ATN1 ATL3 HSPB8 COASY CLCNKB ACAT1 PEX6 ERCC3 DNAJC6 SIL1 BAG3 WNK1 FGF12 KARS1 STX16 FBLN5 EMC1 HDAC4 PIK3R5 PYROXD1 COX6A1 GJB1 FBN1 MDH2 ACOX1 DALRD3 RAB7A DGUOK PPP3CA PNPT1 KBTBD13 AP3B2 VPS13A COLQ PMPCA TPI1 KY TARS1 KIF1B PEX2 SLC13A5 SLC25A19 IARS2 CYFIP2 COX8A HMGCL PEX7 APTX CACNA1B STAC3 LRSAM1 MYO9A EGR2 PTF1A EEF1A2 SPTLC1 PARS2 C9orf72 COA7 RMND1 MT-ND3 POMGNT2 MYH14 B4GAT1 DKC1 DHDDS HP_CHOREOATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREOATHETOSIS HSPD1 SLC2A1 EIF2AK2 MMUT ATM SCN8A PRRT2 AP1S2 NADK2 HSD17B10 KCNA1 NDUFA13 PIGP DDC MT-ATP6 TSEN15 TRIM8 PANK2 PIGQ CACNA1B SIK1 PNPT1 MRPS34 ATN1 PTS HPRT1 SEPSECS PNKD GCH1 GTPBP2 DLAT ATP1A2 SCN2A NKX2-1 GUF1 XPR1 FBXL4 GJC2 MICOS13 VPS13A DMXL2 DCAF17 NDUFA9 SLC30A9 SPR SUOX OPA3 POU3F3 PNKP POLG COX20 ST3GAL5 GNAO1 FRRS1L PIGN QDPR ADAR FTL SLC25A22 TSEN2 NDUFAF5 ARX APTX CASK XPA SYT1 TSEN34 TSEN54 PIK3R5 PLP1 NUP62 ELP2 TUBB4A SLC25A42 ERCC6 CLPB GNAS IRF2BPL SCN1B IREB2 MECP2 FOXG1 STXBP1 NEUROD2 ERCC2 NDUFA1 PDHA1 GCDH ATP1A3 CDKL5 SETX HP_MENTAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENTAL_DETERIORATION HTT ARV1 COL4A1 VPS13C TRAK1 SQSTM1 VCP WFS1 MCOLN1 PPP2R2B MT-TS2 SNCB UCHL1 PDGFRB COMT GABRG2 MT-CO3 ATXN7 TTPA SLC1A2 ATP7B AP5Z1 KMT2A A2M SNCA APP MMACHC ALDH18A1 FUS HNF1A EPM2A MT-ND1 ATP13A2 MAPT HIBCH HNF4A CTNS TOMM40 TREM2 SUMF1 DNMT1 NECAP1 DGUOK NPC2 PINK1 MT-TF ARSA GRN ATXN2 ABCC8 GBA2 TRPM7 SCN8A HTRA1 CTSD ATXN3 CHI3L1 ADH1C UBQLN2 MT-CO1 VPS13A EP300 HEPACAM MYORG SLC20A2 CUX2 PSEN2 KCNC1 IRF6 SPG11 DCTN1 CHD2 CHMP2B MT-ND5 GABRA2 QDPR MT-TC ACTB GALC FTL TBK1 SCARB2 CSF1R MT-TK COL18A1 PSEN1 SDHAF1 MT-ND6 PMPCA SCN1A CREBBP SDHA TREX1 GLB1 ERCC8 NBN PRNP GRIN2A MT-TL1 SCN3A CLN6 NDUFS2 KCNA2 POLG HSD17B10 CACNA1A DNAJC5 RNASEH1 NOTCH3 SLC44A1 MT-ATP6 ATP1A3 LRRK2 GBA NDP L1CAM YWHAG PRDM8 TARDBP ABCA7 PLAU CISD2 NHLRC1 MT-CYB TBP TYROBP ASAH1 NR4A2 SLC2A3 KCNB1 PANK2 FA2H ITM2B PSAP APOL2 C9orf72 JAM2 NRAS MT-TQ AUH NDUFAF3 AARS1 TLR3 ATN1 PTS GRIN2D BSCL2 HLA-DQB1 GCH1 PRKAR1B DNAJC6 ABCD1 MT-TW ATP1A2 TTR CHCHD10 DCAF17 SYNJ1 FMR1 HNRNPA1 NOTCH2NLC IDUA NUS1 SPG21 ATP6V1A MAPK10 CFAP43 NDUFA6 PPT1 CLN5 CSTB ROGDI PLA2G6 NDUFB8 KCNJ11 SERPINI1 UBA5 HNRNPA2B1 XPA GBE1 TMEM106B CNKSR2 GALT CLN8 GABRA5 NOS3 PRKN MT-ND4 ATP6V1E1 ATP6V0A2 SNCAIP SDHB ACTL6B PDE11A DNM1 APOE RRM2B DNM1L SURF1 MFSD8 NTRK2 ERCC6 CTSF TIMMDC1 GCDH VPS35 CTC1 TUBB4A DNAJC13 CP RAB27A GABRB2 GLUD2 SGPL1 JPH3 HEXB DLAT SYN2 SZT2 PDGFB DAOA STXBP1 GM2A DARS2 MTHFR CYP27A1 RBM28 PLEKHG4 GABRB3 PRICKLE1 DRD3 PRKCG TYMP C19orf12 UBAP1 CLTC ADA2 RTN4R TWNK TK2 HCN1 CDK19 FBXO7 SYNGAP1 MT-TV PLP1 CERS1 HTR2A MBTPS2 EIF4G1 MT-CO2 GDAP2 MT-TH NAGLU PRDX1 COASY MFN2 KCTD7 COX6B1 UBTF CST3 FGF12 SDHD PODXL MECP2 HFE PDE10A IDS DALRD3 SLC6A1 HTRA2 PPP3CA GALK1 RAB39B PAH AP3B2 XPR1 SPAST MATR3 CLN3 CUBN FRRS1L APOL4 AARS2 LYST DMPK SLC13A5 RNF216 UCP2 ATXN10 ERCC4 PRKAR1A AP2M1 TUBA4A TINF2 ATXN8OS PNPLA6 CYFIP2 WWOX APTX LMNB1 CACNA1B ZFYVE26 OPA1 HEXA SMC1A WDR45 GIGYF2 HMBS EEF1A2 SNORD118 HGSNAT TIMM8A ERCC2 PARS2 MPO SORL1 GNAS NPC1 PARK7 MT-TE CNTNAP2 SCO2 DHDDS HP_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPARESIS DNM1L DLL4 TRAF7 WDR62 TERT MT-TS2 TPP2 MT-CYB SMARCE1 TUBB2B MT-CO3 SLC1A3 GNAQ COL4A1 ATP1A3 CFHR1 ABCD1 RHOBTB2 EOGT MT-ND1 FGFR1 CCR1 NOTCH1 MT-TF STAT4 CACNA1A MT-TQ TBC1D24 TLR3 RBPJ IL23R SP110 IL10 HLA-DQB1 FAS CYP26C1 ALAD SCN1A TREX1 MT-TW TTR MT-CO1 ANGPTL6 GUCY1A1 SUFU MTHFR PNPLA8 BAP1 SLC2A1 MT-ND6 MT-TK TGFBR3 SMARCB1 TSC1 MT-ND5 ADA2 ERAP1 TLR4 ATP1A2 MT-TC NF2 MT-TL1 CFH TBK1 PDGFB ARHGAP31 DOCK6 COL3A1 ENG UBAC2 GBE1 KRAS THSD1 MT-TV OPA1 MEFV HLA-B AKT1 KLRC4 SPOP IL12A MTOR MT-CO2 MT-TH MT-ND4 PRRT2 IL12A-AS1 C4A PIK3CA PRNP TSC2 CFHR3 SMO HP_MOTOR_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DELAY DCPS KDM1A LRP5 NFIX PAK3 FDXR CHD3 CHRND DHPS TNFRSF11B LARS2 COL6A1 SHANK3 LARS1 ATXN7 C12orf4 BICD2 GRIN1 TUBB ARCN1 CREBBP PAK1 MAGEL2 IQSEC1 PCDH15 FRMPD4 MYL1 SEPSECS SLC12A2 SPART NEB POMT1 DSE ACTL6A MYF6 NEFL GARS1 SYT2 HEPACAM SPEG PHKA2 RUBCN MSTO1 FDX2 PCYT2 MT-ND5 PRX ITGA7 WASHC4 ADCY5 SLC45A1 MEG3 GALC TBC1D24 TIMM50 LMX1B SETD5 KCNA4 RUSC2 TCF4 COL6A3 NKX2-1 HERC2 MYOD1 MT-ND6 SCN2A CPLX1 PMPCA SCN1A EGR2 COG4 SDHA CARS1 ABCA2 LAMA1 POMGNT1 SYNE1 GAA FITM2 KCNK4 FBXO31 ASPA SARS1 GRIA3 MSL3 MT-TL1 CHAT FOXG1 UQCRFS1 NFASC CHRNE NDUFA1 TANC2 GMNN PAX7 HUWE1 MYO7A ODC1 CFL2 NPAP1 HPDL ACTA1 YY1 ZC3H14 GFPT1 EFEMP2 SNORD116-1 SLC18A3 COX10 DPM3 NSUN2 MUSK VAMP1 PIEZO2 NOVA2 KCNC3 TRPV6 IGF1R POMT2 MN1 SELENON TUBB2B RSRC1 NCAPG2 TTN MPZ KMT2E CDK8 MKRN3 HADH SNORD115-1 RYR1 MADD FKRP RTL1 MT-TF MED25 KATNB1 AUH MCM3AP NAA10 FBXL3 UGDH MYH7 SLC25A1 NTNG2 LAMA2 HECW2 DLAT COL13A1 MAN1B1 TNFRSF11A AHCY LARGE1 EDC3 ACBD5 FLVCR1 FASTKD2 BIN1 EHMT1 SRD5A3 CHRNA1 LTBP4 NONO KLC2 CANT1 TRAPPC9 MYL2 TRIP11 AEBP1 KDELR2 ST3GAL3 PNPLA2 DOCK3 TAF1 GABRA5 NOTCH3 FIG4 PSMD12 HSD17B4 NDN COG5 B4GALT7 DLK1 CIB2 ZEB2 CLPB VDR DYNC1H1 PRKRA TRNT1 SLC39A13 SPOP MT-TW TMEM38B MYPN PRMT7 FGF3 HNRNPK NRAS KCNQ2 EPG5 TSHR TPM2 WAC STXBP1 LRRC32 IGF2 TRMU ATP6V0A2 CWC27 WDFY3 FBXW11 SMARCD1 COA8 SELENOI TMCO1 NDUFA4 SNRPN TET3 SMPD1 ATP6AP2 COL2A1 HARS1 MBOAT7 PIGC MTMR14 MYT1L CLIP1 CYP27B1 TNNT1 TPM3 TRMT1 FBXO11 ACTL6B PAFAH1B1 KAT8 RAI1 NDST1 POLR2A FUS KDM3B MED23 PLP1 MED13 SLC5A7 CRBN NKX6-2 ALG2 BMP1 PTPRQ THG1L TRRAP DARS2 MRPS25 PTS AHDC1 MT-TS2 SYNGAP1 OPA1 DYRK1A ORC6 PLEC POMK ADA2 DAG1 DDX6 LMNA COL6A2 UNC80 TK2 SPG21 ZMIZ1 FAM126A MEF2C TSEN2 APC2 FOXP1 CNOT3 SUFU GHR EXT2 ITPR1 DMD AGTPBP1 DCX CDH2 PTRH2 PNP TSEN54 KCNA1 CAMK2A SLC25A42 FTSJ1 ASAH1 CDK13 METTL23 TRIO DHX30 NEPRO CHST3 GLS SUCLG1 KDM5B STAG2 PTCH2 TLK2 FXR1 CLCNKB COL12A1 PPP2CA CNOT2 CSNK2B RSPRY1 ZNF592 LSS SDHD CC2D1A GDAP1 MAP3K20 CHKB IARS2 PDK3 EXTL3 H19 BCOR TUBA1A SARDH NEUROD2 PUS7 ATP10A FBN1 ASPM P4HTM ARID2 SVBP HPRT1 TMTC3 MT-TQ ZC4H2 GALK1 KBTBD13 HACD1 GJC2 GRIA4 VMA21 RAPSN LONP1 ERLIN2 TBR1 PPP2R5D HMGA2 AIMP1 ATP2B3 PLXND1 MED13L RLIM TSEN15 WDR73 MESD CDC6 FGFR3 SYT1 TSEN34 STAC3 MTMR2 MYO9A SMC1A EP300 GJB1 DNAJC19 HS6ST2 SH3PXD2B TH KIF14 ZBTB24 CDKN1C FKBP14 SLC18A2 MYO18B TRAPPC4 PLOD1 RBM8A FBLN1 ARL13B SUCLA2 FBN2 KIDINS220 KLHL41 STAT3 TENT5A KMT2A KY ATL1 CHST14 BPTF ACTN2 GMPPB MT-ND1 HIBCH DMXL2 TNPO3 MBD5 PRPS1 NTNG1 B3GALT6 ZNF711 NDUFA12 PDX1 GALE ADAMTS2 GBA USH1C ATP6V1A ALDH18A1 SPARC PTEN COL1A2 ABCC8 FBLN5 FRRS1L MT-CO1 AGRN NUS1 CRADD RPS23 CRPPA PDE10A OTUD6B IGF1 SNX14 PET117 SCN4A SETBP1 GFM1 ARHGEF2 NGLY1 INPP5E DYNC1I2 SNAP25 HELLS SDHAF1 HADHB PHEX FKTN PHKG2 WDR26 PMP22 PWAR1 SHMT2 GRIK2 MORC2 GCK INPP5K TCF20 CYP2U1 SIGMAR1 SPR UBE2A TRMT10A PURA MMP13 NARS1 SMARCAL1 COL5A1 PCBD1 IFT52 COQ7 CLCNKA SH3TC2 CHRNB1 RAB11B DPYD COQ2 MRPS14 EIF2AK3 TMEM94 ASXL3 MECP2 SETD1A ALS2 COL3A1 KAT6B FGD4 AMPD2 TRIP4 MT-CO3 B3GAT3 PGAP1 UBE3A PTCH1 ANTXR1 REPS1 TAZ NAA15 AHI1 LMAN2L GNPTAB GTF2E2 YIF1B MLC1 LRP4 EXOSC2 IL1RN KLHL40 GABBR2 ACP5 CLCN7 KMT2C RALGAPA1 DOK7 TGFB3 SLC12A6 CDKL5 PIGG NT5C2 PBX1 SLC9A1 CTNNB1 COG1 TECR MICU1 ADARB1 MT-ND4 ATP6V1E1 SDHB KPTN KIF7 UGP2 SP7 MFN2 SEMA6B CSGALNACT1 KMT2B SCYL1 DPAGT1 MTPAP TRPV4 REV3L ALMS1 MYMK COL5A2 CTBP1 MAPRE2 TKFC MAPK8IP3 NALCN MAOA BMPR1A LIAS MEGF10 FLRT1 ZSWIM6 COL1A1 CNOT1 SLC9A7 SGMS2 PCDH19 PRSS12 RRAS2 ZNF148 VPS51 RPS6KA3 MAN2B1 FMN2 ADGRG1 NEU1 PUM1 PPP2R1A SLC6A3 MYH3 SOX5 MED12 PACS2 ATG5 CLP1 SIM1 BSND KCNJ11 MED12L MT-TN ALDH5A1 TMEM63A CRAT LMOD3 DNM2 PNKP GLE1 BRAT1 BCL11B TUBB4A SET POMGNT2 CYP2R1 SCO2 MT-TH HADHA MT-TE TUBB3 ATP1A3 RNU12 VPS13B ACAT1 AK9 CTDP1 ITCH FLNA RAC1 PYGL SURF1 GRM1 MYRF NPHP1 SLC1A3 TRIM2 SLC6A8 MECR PREPL DARS1 HNMT CUL4B VPS35L SCN11A SAMD9 B3GALNT2 BRPF1 HOXA1 TUSC3 SLC1A4 AP3B1 TNIK EZR ALG14 VPS13D LINS1 WDR4 MFF WASF1 GALNT2 NEK1 CYP3A4 MPDZ PWRN1 AGK INS SPG11 BCORL1 DPF2 PLAG1 HGSNAT HK1 GPSM2 ACADSB TANGO2 WWOX EBF3 RORA MT-CO2 CNTNAP2 UBE3B HP_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYNEUROPATHY PMM2 PDYN ERCC6 ABHD12 GCLC SLC25A19 ARL6IP1 MYD88 SETX TTR FAM126A SEPTIN9 MT-CYB PRPS1 ATP7B AIFM1 PSAP PIK3R5 PDK3 SH3TC2 MT-ND4L NAGS DMXL2 NF1 SYNE1 C12orf65 MT-ND5 PEX7 DGUOK ERCC8 SNAP29 PEX11B SLC12A6 TBC1D24 MT-ATP6 GRM1 DHH EDNRB MT-ND4 ALAD NGLY1 LDB3 GSN ABCD1 MT-CO3 MT-ND2 CYP7B1 CD59 DARS2 MT-ND1 OPA1 FUCA1 COQ7 MT-ND6 RPIA PEX12 NF2 MYOT HP_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_ATROPHY HTT ATXN10 ABHD12 MCOLN1 PPP2R2B SYNE1 STT3A ERCC3 AP4M1 FDXR TMEM240 SETX WWOX SLC9A6 BCS1L ATXN7 FCSK KCNA1 CYFIP2 ZNHIT3 CYB5A PIGQ SUMF1 DNMT1 SIK1 BEAN1 KIF1A TOP3A TBC1D20 SPG7 GBA2 SYT14 XRCC1 GTPBP2 PMPCB IFRD1 SPTBN2 POMT1 CTSD ATXN3 TGM6 MRM2 DNAJC3 AFG3L2 WARS2 EEF2 ALG3 HEPACAM TBCE PRUNE1 CRPPA KCNC1 SPTAN1 FRRS1L POLG2 ALG9 TWNK MAG ADPRS SLC25A22 TBC1D24 NGLY1 TRAPPC11 LIPT1 MRE11 TXN2 COL18A1 PMPCA SLC1A3 CARS1 SACS GPAA1 PLD3 PLAA COQ8A CLPB RELN MPLKIP TPP1 TRPC3 GRM7 IRF2BPL MICOS13 CPLX1 SCN1B SLC39A14 CLN8 UBA5 NFASC COG7 NDUFA1 NARS2 SLC44A1 FGF12 ATAD3A LAGE3 SIL1 CDKL5 CCDC88C KIF1C TDP1 KCNC3 EPRS1 ELOVL5 TBP STUB1 CNTNAP1 COQ2 IBA57 GRM1 COL4A1 UFM1 COG5 COG8 FA2H MARS2 POLG VWA3B ATP13A2 WDR73 SOD1 SLC39A8 DAB1 SHANK3 SERAC1 PEX10 PIGS NOP56 SC5D SCN2A AP4S1 SLC5A6 EXOSC3 BCL11A SNX14 POLR3B ITPR1 L2HGDH DMXL2 ERCC2 AP4B1 PIGK REPS1 FMR1 BTD DNM1L YIF1B GNAO1 ATXN8OS GTF2H5 TK2 KCNMA1 PCNA EXOSC2 MAN2B1 CLN5 CACNA1G CDC42 OSGEP SLC35A2 TAF1 RNASEH2A CLCN7 SCARB2 STT3B HSD17B4 WDR81 OPA3 FGF14 PIGG COQ5 BCORL1 ATP6V1A SLC9A1 COG1 ACTL6B STXBP1 COQ9 AP4E1 PLK4 PIGT SEMA6B NKX6-2 TSEN2 EXOSC9 PRNP TRAPPC6B MORC2 PACS1 SCYL1 NDUFS4 ATP6AP2 SQSTM1 MFSD8 RNF113A CTSF COX4I1 ACO2 COG6 CTBP1 CARS2 VPS53 POLR3A RFC1 CKAP2L SLC33A1 KCND3 FOXRED1 GTF2E2 SRD5A3 ACY1 POGZ POLR1C ARMC9 CACNA1A PNPLA6 DARS2 CYP27A1 RNASEH1 NDUFA9 SLC25A46 OPA1 PRKCG SEPSECS PNKP C19orf12 MTHFS ANO10 PIGN PDYN RNF13 ARG1 MYH3 ZMIZ1 KCNJ10 BCAP31 ZNF335 ZIC1 AGTPBP1 ALDH5A1 CRAT BRAT1 ATP1A2 TUBB2B TUBB4A ERCC6 ATXN1 GAD1 CNP DHX30 FKRP MGME1 GRID2 NEUROD2 TRAPPC4 GDAP2 VPS11 KCTD7 AIMP2 RTTN FAR1 PTRH2 GRIA2 PLA2G6 ATP1A3 ADSL RNU12 VLDLR CYB5R3 UBTF SPART EMC1 FAT2 PIK3R5 TBCD PIGP RRM2B TRIM8 NADK2 GJB1 MDH2 TECPR2 MFF MVK SCN1A SAMD9L ATP8A2 FBXL4 TTC19 TRMT1 DEGS1 CCDC88A AP3B2 TARS1 NDUFS1 WDR4 NUP214 PEX2 MME AARS2 LYST UCHL1 RNF216 CIZ1 RARS2 SLC52A2 HERC1 APTX CASK TTBK2 FKTN NALCN FARS2 WDR45 ARX TMX2 HK1 LAMA2 GRN COA7 ELOVL4 PRRT2 RUBCN VARS1 ATXN2 PIGU PCLO ATP2B3 EBF3 RORA DPM1 PEX6 LNPK SLC25A4 HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY DCPS WDR35 KDM1A CCDC174 NODAL PDHX CYP11A1 UNC80 PUF60 TRAK1 WDR62 FKRP SOX4 ACER3 MCOLN1 ARMC9 AP4M1 FDXR DLL1 GCSH PRMT7 SUZ12 LYRM7 RB1 FGFR1 ZIC1 SLC1A2 SIX3 C12orf4 SPATA5 BICD2 DISP1 KCNA1 GRIN1 TUBB B9D1 KANSL1 PIGQ CEP55 NEDD4L MRPS22 POGZ LIG4 SIK1 SLC25A10 TBC1D20 GDF1 FKTN FRMPD4 RAC1 PDHB SEPSECS SLC12A2 EMX2 GBA2 ARID1A KIFBP NSD2 DHCR7 ABAT ASXL1 TGFB1 GPX4 THOC6 KATNIP ACTL6A RNU4ATAC KIAA0586 ARX KIF7 EP300 NFIA PIGP B3GALNT2 OFD1 POU3F3 TMEM107 SPTAN1 BRF1 EPG5 LHX4 MT-ND5 GABRA2 MAP11 GPC3 CDON COX7B DEAF1 WASHC4 SLC45A1 GFM2 NRROS GAS1 BRSK2 NELFA DYNC1H1 RUSC2 TCF4 TMEM237 MT-ND6 DYNC2I2 PYCR2 CYP2U1 MKS1 CARS1 GOT2 NF1 KCNK4 ACTB VAC14 FBXO31 RAB3GAP2 PTCH1 SARS1 RELN RNF13 GRIA3 NHLRC2 GRM7 MBTPS2 SCN1B MT-TL1 FOXG1 POMT1 AHI1 COG7 GLI2 CACNA1A C12orf65 NARS2 SPECC1L TMEM70 CARS2 HPDL YY1 ZC3H14 YWHAG RAB11A MED12L DPH1 STXBP1 NSUN2 PIGG KDM5B GRIN2A SHH NOVA2 EPRS1 IGF1R POMK DIAPH1 RECQL4 TYROBP PTPN23 MOCS1 TUBB2B YWHAE GNAO1 TUBB3 SIX6 GLUL PIGA CHMP1A TMEM216 KMT2E KCNB1 DYNC2H1 GPKOW RHOBTB2 CDK8 FA2H ATP13A2 MT-TF FDFT1 ALX3 MED25 GPT2 GMPPB MRPS16 KATNB1 TCTN1 AARS1 SHANK3 TECPR2 DIS3L2 BUB3 TCTN2 TRPM3 GRIN2D FLCN TDGF1 L1CAM VANGL2 ALX4 PDHA1 TUBA8 UBE3A MAN1B1 SMARCD1 AP4S1 RAB23 B4GAT1 EDC3 TARS2 L2HGDH ZBTB20 C12orf57 PAFAH1B1 B3GLCT ERCC2 AP4B1 EHMT1 AIFM1 DCX EFNB1 NONO CENPJ HESX1 GTF2H5 ZSWIM6 NUS1 RBM10 RAB3GAP1 GABRB1 WNT3 EXOSC8 TRAPPC9 KCNT1 KIRREL3 HACE1 FGF8 CEP120 SLC25A24 NDUFB11 ST3GAL3 NSD1 TAF1 POMGNT1 GABRA5 EEF1A2 SCN3A ASNS DDX3X PSMD12 MDH1 SET WDR81 RSRC1 CTNNB1 PIBF1 PPP2R1A BMP4 ZFR ZEB2 CIC TAF13 MT-TW AIMP1 IFT80 COG4 DAG1 ACTL6B ZIC2 ITGB6 CIT HNRNPK DCHS1 SMARCC2 PMS2 WAC TBCK LRRC32 KCNQ2 HCCS SOX3 KIDINS220 WDFY3 PPP1R12A FBXW11 PYCR1 NKX6-2 TSEN2 TRAPPC6B FGFR3 RERE TMCO1 SEC31A DNM1L ATP6AP2 RNF113A NTRK2 PTDSS1 ACO2 MBOAT7 SYNJ1 DOCK7 PRRX1 CSPP1 USP9X MYT1L PIGN CLIP1 VPS53 AMER1 POLR3A NANS TRMT1 MBD5 GABRB2 KAT8 NDST1 WT1 ANKRD11 POLR2A KDM3B MED23 NUP188 ZNF462 HIBCH MED13 FAM149B1 SZT2 CRBN CSNK2B AP4E1 NAA10 POMT2 TRRAP DARS2 WDR45B NRAS SLC25A19 PDE6D ZBTB18 MRPS25 AHDC1 CRPPA MT-TS2 DYRK1A ADAR KNL1 PGAP1 DDX6 SASS6 KIAA0753 LRP2 TMEM138 ERCC6 PRKDC ZMIZ1 SMARCE1 BCAP31 APC2 PSAT1 HCN1 CDK19 SON CEP290 CNOT3 SOX2 CNOT1 FGFR2 TAF2 AGTPBP1 AP5Z1 CDH2 SSR4 TSEN54 FOXE3 EML1 TTI2 SNAP29 CEP41 SHOC2 SETD2 CDK13 METTL23 POLR3B ADAT3 EPB41L1 NEUROD2 KCNT2 RPGRIP1L MAF GLDC MT-CYB SYNGAP1 FOXH1 CPLANE1 COASY PPP2CA EIF2AK2 RSPRY1 EARS2 LSS SLC35A2 CC2D1A DDX59 SIN3A TMEM231 QARS1 TBCD ARNT2 HYLS1 TUBA1A TRIM8 STUB1 NR2F1 PORCN SPG11 ASPM CC2D2A PLAA SOX11 NDE1 STIL SVBP SUFU ATRX TMTC3 TOE1 METTL5 TREX1 MOGS ATP8A2 ANKLE2 MT-TQ CDK10 HERC1 PIEZO2 NKX2-1 PRDM16 GRIA4 SRPX2 LONP1 COPB2 CLCN4 RAI1 CEP57 CSF1R ERLIN2 TARS1 CENPF PPP2R5D PCGF2 SLC13A5 SLC12A6 PHGDH NPHP1 RLIM ZNF423 STAG2 MFSD2A ALDH6A1 RNASEH2A ODC1 RAD51 IER3IP1 DACT1 GLI3 WDPCP FLI1 GALC CYFIP2 IBA57 LMNB1 CASK CPT2 TSEN34 HRAS ZFYVE26 PPP2R3C SMC1A FANCD2 EBP RARS1 OTX2 TGIF1 CDK5RAP2 RMND1 HNRNPU FRMD4A POMGNT2 PIGU OCA2 KLHL7 PCLO ARFGEF2 STAMBP IDS PAH TRAPPC4 LNPK CWF19L1 DHDDS IQSEC1 RNASEH2B ARV1 RAC3 BUB1B PROP1 MED12 SCYL2 KIAA1109 GABRG2 ARID2 PRPS1 BCOR FANCI IGBP1 TRMT10A KMT2A SAMHD1 CEP152 RPGRIP1 MT-ND1 TSEN15 LARGE1 ZMYND11 NECAP1 CPLX1 KIF14 DCC KRAS TAOK1 GBA ATP6V1A NEXMIF ALDH18A1 GTPBP2 SCN8A SETBP1 NTN1 RSPO2 FRRS1L MT-CO1 ASH1L EOMES TBCE PRUNE1 CRADD COG2 OTUD6B DOCK3 TMEM67 CTNNA2 MAG ALX1 INPP5E GFM1 SLC25A22 DYNC1I2 PPP1R15B UPF3B SACS WDR26 AKT3 DHCR24 SHMT2 C2CD3 RAB18 GRIK2 MPLKIP MCPH1 SALL1 IRF2BPL ACY1 NTNG1 TCF20 BRAF CCDC47 CDH15 KCNA2 SNIP1 NARS1 KIF5C NFIX RNASEH2C HIVEP2 IFT52 KIF1A KIF2A DOCK8 UBTF CEP104 CDKL5 IFIH1 SMARCA4 GJC2 LMBR1 DPYD USP7 NID1 PIGB EIF2S3 CNTNAP1 DPF2 DISC1 GLRX5 PROKR2 CLTC LETM1 ASXL3 PHC1 CACNA1E VWA3B SMG9 WDR73 COL4A1 GPC4 CD96 COL3A1 UBA5 PNPT1 PPP3CA ACTG1 AMPD2 ERMARD SLC1A4 MT-CO3 POLG2 CREBBP AHCY SCN2A SLC5A6 PIK3R2 KCNAB2 DMXL2 AHSG REPS1 TUBB2A PIGH LMAN2L HSD17B4 YIF1B GRIN2B KCNQ5 SPG21 CAMK2A TMEM260 HTRA2 ARHGAP31 CDC42 OSGEP KAT6B SLC9A6 MACF1 PSAP KMT2C PUS3 RALGAPA1 TBC1D23 CNKSR2 ZDHHC9 MTOR PIK3C2A GABRD FOXA2 TRIP13 EXOC7 TECR ADARB1 MT-ND4 PARS2 UGP2 TCTN3 DNM1 PIGC SMARCB1 NT5C2 HSPA9 RPS6KA3 SMO EXTL3 DNAL4 COG6 FLII ARID1B MAPRE2 KIF15 MID1 WWOX POU1F1 MAPK8IP3 RXYLT1 ZNHIT3 BUB1 NALCN GTF2E2 AMT DONSON POLR1C VAX1 MOCS2 OSTM1 TANC2 CACNG2 PRSS12 ARSI ZNF148 VPS51 PEX1 PNKP MEF2C CAMK2B CENPE FMN2 PDYN ATL1 DDHD2 ATN1 MLH1 ARL13B NDUFA2 TRAPPC12 FAT4 SKI TUBGCP2 BRAT1 GAD1 CNP IQSEC2 MT-TH VPS11 KCTD7 AIMP2 RTTN VAMP2 MAP1B CEP135 VPS13B CEP63 ERCC3 NCAPD3 FGF12 SLC6A8 EMC1 DARS1 HNMT CUL4B PCNT NADK2 CILK1 EXOC8 CDK5 MDH2 DALRD3 FIG4 CDK6 GFER TUSC3 SLC6A9 MAP2K2 TNIK EZR B9D2 AP3B2 FBXL4 TMEM106B CCDC88A MTHFR LINS1 DYNC2I1 CLP1 ATAD3A PLP1 FH CTBP1 BPTF NDUFAF5 ARL3 FGFRL1 WDR4 ADNP CACNA1B OPA1 BCORL1 FLVCR2 TMX2 DHX16 PEX16 HK1 PAX6 GPSM2 CUX1 CHAMP1 VARS1 TREM2 RORA MT-CO2 HIC1 UBE3B HP_AGENESIS_OF_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CORPUS_CALLOSUM WDR35 NODAL PDHX CYP11A1 FKRP SOX4 RAC3 PROP1 STAG2 GCSH SCYL2 LONP1 SUZ12 ARID2 FGFR1 ZIC1 FANCI IGBP1 SIX3 DISP1 CEP152 MFSD2A MT-ND1 LARGE1 ANKLE2 ARX KANSL1 COPB2 CPLX1 KIF14 GDF1 DCC NSD1 PDHB KRAS COX7B SLC12A2 EMX2 GTPBP2 NSD2 ABAT ASXL1 NDUFB11 GPX4 NTN1 RSPO2 RNU4ATAC MT-CO1 EOMES NFIA B3GALNT2 SMC1A SHH B3GLCT EPG5 LHX4 MT-ND5 MAP11 GPC3 CDON ALX1 GAS1 NELFA RAB3GAP2 DYNC1I2 DYNC2H1 MT-ND6 FRMD4A DYNC2I2 PYCR2 ACTB DHCR24 POMT2 VAC14 C2CD3 PTDSS1 FGFR2 PTCH1 DLL1 RELN MPLKIP MCPH1 SALL1 MT-TL1 FOXG1 POMT1 HESX1 GLI2 NARS2 NFIX SPECC1L DCHS1 YY1 KIF7 ZIC2 DPH1 TDGF1 DPYD HCCS POMK RECQL4 DPF2 TUBB2B TUBB3 DISC1 SIX6 TGIF1 PROKR2 LETM1 PHC1 POLR3A CDK8 ASPM EHMT1 MT-TF COL4A1 OFD1 GPC4 MED25 GMPPB MRPS16 KATNB1 SHANK3 DIS3L2 ACTG1 L1CAM MT-CO3 BMP4 VANGL2 ZEB2 ALX4 PDHA1 TUBA8 SMARCD1 B4GAT1 KCNAB2 FGF8 MED12 C12orf57 ERCC2 EFNB1 CENPJ GTF2H5 ZSWIM6 TMEM260 WNT3 SOX3 CEP120 KAT6B POMGNT1 MDH1 ARID1A PPP2R1A AHI1 SOX2 SLC12A6 TAF13 GABRD FOXA2 MT-TW DDX59 IFT80 SLC25A19 DAG1 CIT HNRNPK SMARCC2 PMS2 MT-ND4 LRRC32 KIDINS220 PPP1R12A SMARCB1 PYCR1 RERE SEC31A SPG11 FKTN HSPA9 RNF113A SMO MKS1 PRRX1 DNAL4 RPGRIP1L PIGN ARID1B KIF15 AMER1 MID1 POU1F1 RXYLT1 POLR2A PIEZO2 GTF2E2 ZNF462 HIBCH AMT HYLS1 VAX1 OSTM1 MRPS25 ZBTB18 ZNF148 CRPPA MT-TS2 GLI3 CENPE KNL1 PDYN SASS6 LRP2 MLH1 ERCC6 SMARCE1 CNOT1 SMARCA4 MED12L DCX CDH2 TRAPPC12 SKI EML1 CEP41 OTX2 CDK13 ADAT3 MBTPS2 PHGDH PGAP1 MT-TH RTTN KIAA0753 GLDC MT-CYB TMEM237 FOXH1 CEP135 WDR62 INPP5E CEP63 ERCC3 NCAPD3 ARNT2 TUBA1A PORCN CDK5 SOX11 NDE1 STIL BUB1B ATRX FIG4 CDK6 METTL5 MT-TQ NKX2-1 PRDM16 MTHFR CSF1R TARS1 CENPF DYNC2I1 SUFU RAB3GAP1 NPHP1 FH CPT2 EP300 CTBP1 RAD51 DACT1 NDUFAF5 FGFRL1 FLI1 CREBBP WDR4 ALX3 PPP2R3C FLVCR2 PUF60 FANCD2 DHX16 GPSM2 CDK5RAP2 HNRNPU POMGNT2 FAT4 MT-CO2 CWF19L1 HP_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTONIA DCPS KDM1A CLIP2 NDUFA4 NODAL PDHX TUFM UNC80 TRAK1 WDR62 NDUFA13 GPHN ACER3 MCOLN1 GNB1 SYNE1 AP4M1 FDXR PPARGC1A ADGRG1 DHPS ATRX MAG TINF2 LYRM7 NADK2 KIF5A PMS2 BCS1L ACOX1 SLC1A2 KRAS C12orf4 SPATA5 DISP1 KCNA1 XPC DDB2 GRIN1 SCN4A ACP5 RTN2 EOGT THOC2 CYFIP2 EPM2A ATP13A2 PSPH PHACTR1 NOTCH1 TOMM40 PIGQ MRPS22 SOX10 DNMT1 ARHGEF9 SIK1 NPC2 PRF1 SLC25A10 TBC1D20 CNPY3 HDAC8 ARSA FRMPD4 SEPSECS SPG7 SLC12A2 GBA2 SPART PMPCB HTRA1 DHCR7 TGFB1 B4GALNT1 DNAJC12 NDE1 CTSD SIX3 PEX10 MRM2 NSUN2 MECP2 BRAT1 ARX MSH6 NDUFA12 HPDL ANK3 VPS13A FUCA1 ALG3 HEPACAM TOR1A MT-TV RPIA TANGO2 PIGP POU3F3 PDHA1 EPCAM FDX2 SLC6A19 MLH3 RNASEH2B SPTAN1 PCYT2 BRF1 TBL2 GABRA2 FXN WASHC4 PAFAH1B1 ADCY5 SLC2A1 SLC45A1 GFM2 ZFYVE27 GALC CLCF1 TIMM50 MTO1 BRSK2 DSTYK LMX1B LIPT1 MRE11 CSF1R TXN2 KCNA4 DYNC1H1 RUSC2 PSEN1 PMPCA PYCR2 OCLN CYP2U1 ECHS1 ERCC5 MYO5A SDHA GOT2 TSEN54 KANK1 POLG2 NUP62 PSEN2 ERCC1 FBXO31 GLB1 RAB3GAP2 LIMK1 TRAF7 CLPB VAMP1 PTCH1 DLL1 SARS1 RNF13 GPAA1 GRIA3 MSL3 FIG4 GRM7 GAS1 PEX3 SCN1B FOXG1 ALG11 NFASC NDUFS2 MTFMT FTO CKAP2L CACNA1A PSAT1 C12orf65 CCNF NARS2 PANK2 TP53 ATAD3A HUWE1 LAGE3 ODC1 WDR73 TACO1 GBE1 SPTBN2 CARS2 SIL1 NDUFA9 ACTA1 EBP PON2 ZC3H14 YWHAG SMC3 MARS2 RAB11A MED12L STXBP1 CCDC88C HMGCL KDM5B GRIN2A PEX12 KIF1C TARDBP ABCA7 PCDH12 NOVA2 EPRS1 ARL6IP1 PAX3 TYROBP HSPG2 PTPN23 MOCS1 GNAO1 NCAPG2 TUBB3 SIX6 PIGA CHMP1A REEP1 POMT1 COL4A1 UFM1 HLCS KCNB1 RLIM RHOBTB2 FA2H POLG CLCN4 SLC30A10 SOD1 TUBGCP6 MED25 GPT2 VPS13C ERCC2 KATNB1 AUH CAMK2A AARS1 TECPR2 NAA10 SERAC1 UGDH EIF2AK3 TRPM3 GRIN2D TDGF1 BSCL2 L1CAM NTNG2 GCH1 NDUFAF6 MT-ND2 DNAJC6 MAN1B1 ABCD1 PQBP1 AP4S1 BICD2 SAMHD1 TMEM67 RTEL1 B4GAT1 EXOSC3 CYP7B1 EDC3 TARS2 SLC16A2 L2HGDH OPA1 AP4B1 GBA AIFM1 SLC6A5 BEAN1 ALDH18A1 ATXN8OS GTF2H5 NDUFV2 NUS1 KLC2 RAB3GAP1 EXOSC8 KCNT1 KIRREL3 HACE1 FGF8 MCCC1 ST3GAL3 ROGDI ATXN3 PLA2G6 SLC19A3 ATP7A NDUFB8 CACNA1D TAF1 RNASEH2A CLIC2 GABRA5 NDUFAF4 EEF1A2 ARV1 GJA1 SCN3A ASNS DDX3X MDH1 METTL5 HSD17B4 SET RSRC1 GLI2 CTNNB1 OPHN1 MT-ND5 ZFR ZEB2 ELN CIC GLRX5 COQ5 AIMP1 COG4 FGFR1 SRPX2 IREB2 ACTL6B ZIC2 CIT HNRNPA1 DPAGT1 COQ9 PRKN KCNQ2 ATP6V0A2 ERCC4 INTS8 DCTN1 AMACR TBL1XR1 KIDINS220 SQSTM1 NAGA BMPR1A FBXW11 NKX6-2 COA8 TSEN2 MORC2 SELENOI PLPBP MT-TP HLA-DQB1 SEC31A NDUFS4 CACNA1G DNM1L ALS2 SURF1 VPS37A RNF113A NTRK2 SLC25A15 MBOAT7 SYNJ1 FLNA SCN2A CLIP1 VPS53 DDC POLR3A MT-ATP6 ERCC6 SUZ12 GAD1 COL4A2 SLC25A12 MBD5 GABRB2 NDST1 FUS MED23 PLP1 DLAT FAN1 CPT1C GTF2IRD1 EPHA4 SZT2 CRBN PNPO ADAM22 CSNK2B AP4E1 DHDDS ATAD1 IKBKG TPRKB RFC2 PNPLA6 DARS2 WDR45B MTHFR GLYCTK SLC25A19 AFG3L2 PTS GRIN2B NALCN PEX14 MCCC2 PCBD1 PDCD1 EZH2 PPP3CA C19orf12 ADAR SOX4 PGAP1 KCNJ6 DENND5A ERLIN2 LIPT2 TFG PRPH SPG21 SNCA TCTN2 NEK1 GLRB APC2 HCN1 CDK19 SON FOXP1 LBR SOX2 CNOT1 TAF2 AGTPBP1 AP5Z1 DCX PON3 FARS2 PNP PET100 LINGO1 IDUA EML1 TUBG1 MT-ND6 BOLA3 MT-TL1 COASY METTL23 POLR3B ADAT3 NEFH EPB41L1 KYNU NEUROD2 TRAPPC4 GDAP2 CYB5R3 DAO KDM5C INPP5K SYNGAP1 FOXH1 STN1 VAC14 ATP6AP2 ADSL MFN2 EIF2AK2 VAPB GMPPB ERCC3 ABCC8 CRLF1 ZNF592 EARS2 SDHD CC2D1A PODXL HSD17B10 NDP HLA-DRB1 EIF2B4 ALDH3A2 BCOR TBCD ENTPD1 PRDM8 CASK TUBA1A OPA3 TRIM8 STUB1 NR2F1 MIPEP SHH NCAPD3 PLAA HPRT1 TMTC3 NHLRC1 TOE1 HTRA2 TREX1 GAN ZC4H2 NIPBL SLC17A5 CDON BCKDHA GJC2 SPAST GRIA4 PFN1 GLE1 COPB2 KIF11 MLH1 TPI1 TARS1 COX15 SATB2 ASPA AARS2 LYST PIK3CA SLC13A5 ATP2B3 CCT5 PHGDH MED13L KIF1A STAG2 MFSD2A PAX1 TSEN15 PRNP ATM IBA57 COX8A PSAP HSPD1 TRAPPC9 LMNB1 ATXN2 TSEN34 CFAP410 PITX3 CHP1 ZFYVE26 APP FBXO7 BAZ1B GJB1 NSD1 DNAJC19 WARS2 PON1 CAPN1 LAMB1 TRIT1 RARS1 TGIF1 RANBP2 TMEM231 FRMD4A NPC1 GCDH ITM2B PIGU KCNQ3 SEMA4A PCLO PARK7 STAMBP PEX2 GATAD2B RAD50 ANG SLC25A4 DKC1 IQSEC1 IFIH1 WDR48 HTT ATXN10 ABHD12 SMPD4 FBLN1 ERLIN1 ARL13B ELOVL4 NEXMIF UCHL1 PEX19 SCYL2 TP53RK AP1S2 GABRG2 WWOX PRPS1 TTPA TRMT10A KY ATL1 HNRNPH2 TELO2 MT-TF SLC35C1 ANKLE2 CYB5A SLC33A1 ZMYND11 LARGE1 RAB27A SUMF1 NTNG1 NECAP1 PINK1 NUBPL RBPJ PEX1 TAOK1 ISCA2 SMPD1 GTPBP2 NEU1 GTF2I SCN8A MPDU1 SETBP1 MYT1L FRRS1L TDP1 RETREG1 SETX ASH1L PRRT2 PLK4 NACC1 VCP SACS SPR TBCE PRUNE1 CRADD NPHP3 SMC1A AGA COG2 SPG11 DEAF1 OTUD6B QDPR AUTS2 SNX14 CTNNA2 GSS MT-ND1 GFM1 FTL GLRA1 SLC25A22 TPK1 OPTN DYNC1I2 ARHGAP31 EIF2B2 PPP1R15B SDHAF1 EYA1 PEX13 UFC1 UBQLN2 WDR26 HIKESHI DHCR24 EIF2B3 SHMT2 RAB18 SLC18A2 ADD3 WDR4 CYP27A1 GRIK2 MPLKIP IRF2BPL MICOS13 SLC39A14 BRAF SIGMAR1 MT-TK CDH15 UBA5 KCNA2 NARS1 NOTCH3 KIF5C IARS1 RNASEH2C KIF2A DDHD1 DOCK8 UBTF CDKL5 NDUFV1 ATXN7 PEX11B RAB11B POMT2 DPYD MED17 SLC6A8 RFT1 EIF2S3 TBP CNTNAP1 ARF1 CLTC FOXRED1 CACNA1E MTRR EED VWA3B JAM2 HIVEP2 TREM2 TWNK NDUFAF3 PNPT1 PEX6 AMPD2 SLC1A4 NOP56 PEX7 OSTM1 SLC5A6 TTR FKTN GUF1 TBK1 DMXL2 WASHC5 ACD REPS1 SUOX LMAN2L NOTCH2NLC YIF1B KCNQ5 MLC1 ATP6V1A MT-TW NDUFS7 MAN2B1 NDUFA6 CHMP2B PPT1 OSGEP BCKDHB SLC35A2 GABBR2 MACF1 RALGAPA1 XPA POMGNT1 TBC1D23 RNASET2 CNKSR2 ERBB4 NDUFAF2 NT5C2 NDUFAF5 DBT TECR H1-4 ADARB1 ATP6V1E1 PARS2 SDHB UGP2 DNM1 RAD21 PIGC B3GALNT2 EXOSC9 NDUFA2 ERCC8 SPOP KMT2B SCYL1 MT-ND4 MARS1 APC RPS6KA3 EIF2B1 MGAT2 MAPT GAMT SLC6A3 MTPAP EXTL3 NIPA1 UNC13A PEX5 CTC1 BTD ASXL3 CHCHD10 ACP2 GLT8D1 REEP2 PARN MAPK8IP3 NDUFA10 NUP133 MRPS34 GTF2E2 LIAS TERT FLRT1 ZSWIM6 POLR1C MOCS2 GM2A CACNG2 C9orf72 TRMT5 PRSS12 PNPLA8 ARSI SLC30A9 PNKP COLGALT1 ASAH1 CAMK2B MTHFS BCL11B UBAP1 FMN2 PIGN JAM3 FKRP DDHD2 PUM1 ARG1 SETD5 ZNF335 TCF20 CLP1 PEX26 TRAPPC12 ISCA1 TUBGCP2 ELP2 TUBB4A RNU4ATAC POLA1 CNP NDUFS8 VPS11 NDUFS1 TAF15 RTTN FAR1 PCCA GRIA2 MSH2 ACAT1 DLL4 GFAP GRM1 FGF12 TGFBR2 LRRK2 EMC1 MECR OGDH RRM2B DARS1 HNMT EXOC8 ERF DALRD3 NDUFS3 MT-TI MFF TUSC3 NEFL SLC6A9 SVBP SUCLA2 EIF2B5 TNIK PAH EZR AP3B2 TTC19 TMEM106B KMT2A ACADS PEX16 DEGS1 MATR3 VPS13D LINS1 RERE ANXA11 NUP214 GSX2 PMS1 KAT6A ATXN1 DOCK6 RARS2 SLC52A2 TUBGCP4 ADNP DYRK1A CACNA1B HEXA WDR45 TMX2 EDNRB RPS20 SNORD118 PLCB1 HK1 CUX1 PI4KA CHAMP1 SORL1 USP8 DLD MT-ND3 PCCB TCF4 TIMM8A NUP107 ARNT2 CNTNAP2 SCO2 HP_ORTHOSTATIC_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION B2M IL12A HEXB DBH ELP1 IRF5 TNPO3 TNFSF15 GIGYF2 ARSA COQ2 CHCHD2 EIF4G1 PSAP GMPPA GSN COL1A1 NTRK1 POU2AF1 TTR CYP11B2 SNCA LEP SPIB COL5A2 CHRNA3 VPS35 COL5A1 LEPR DNAJC13 GBE1 SIM1 LRRK2 AAAS LMNB1 CAV1 CYB561 MMEL1 GBA IL12RB1 ATP7A HP_SYNCOPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNCOPE TRPM4 JAK2 SCN1B TECRL KCNQ1 TRAF7 TERT RYR2 TRDN HLA-DQB1 TNNT2 SCN5A NKX2-5 CACNA1C KCND3 DSP CALM1 SMARCE1 PKP2 MOG CASQ2 GPD1L KCNE2 SNTA1 SCN2B TBX20 MYPN MPL THPO MYBPC3 JUP ACTC1 TNFSF4 SEMA3A CACNB2 CALM2 MYH6 RNF125 KCNE1 DBH SCN10A AKAP9 ZNF365 SCN4B ANK2 GATA6 KCNE3 SUFU CRELD1 KCNJ8 BAP1 SMARCB1 KCNH2 AKAP10 PSEN2 NF2 FLNC NOS1AP TNNI3 ABCC9 SCN3B ALG10B PDGFB PSEN1 CAV3 CLCNKB KCNJ2 TLL1 P2RY11 TNNC1 AKT1 HCRT SLC12A3 CALM3 COQ2 HCN4 GATA4 KIF20A CITED2 NOTCH2NLC CTSH SLMAP NR2F2 KCNJ5 BVES SCNN1A RANGRF DSC2 NTRK1 CACNA2D1 PIK3CA KCNE5 LMNA HLA-DRB1 SMO HP_TETANY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETANY TBCE TRPM6 COMT SEC24C TBX1 UFD1 HIRA CLDN16 SLC12A1 CASR JMJD1C CYP2R1 CYP27B1 GP1BB TCIRG1 PTH ARVCF RREB1 SLC12A3 KCNJ1 HP_BULBAR_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_PALSY TARDBP ACTA1 MATR3 VAMP1 SLC52A2 SQSTM1 SLC25A1 TK2 TBK1 CHAT CHCHD10 SELENON ATXN1 SNAP25 COL13A1 FUS DES VCP PET100 PLAA MYH7 SLC5A7 DOK7 AR MYO9A ARSA TRPM7 TPM3 SLC52A3 C12orf65 HK1 TPM2 ABCD1 GSN C9orf72 AGRN CHRNE GIPC1 NEB RYR1 DNAJB6 SYT2 CHRNA1 SLC18A3 LMOD3 HP_AREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA FKTN DNM1L ATP6AP2 ACER3 TRIP4 ERLIN1 ERCC6 PEX5 AIFM1 ACO2 MFN2 SCYL2 SETX TRPV4 ALG2 PEX12 DNAJC3 TTPA MTMR14 POLG KIF1A ALDH18A1 TPM3 LARGE1 NDRG1 RXYLT1 SOX10 RAI1 PRPS1 VCP LPIN1 OCRL ALG6 MYL1 LAMA2 SBF1 TRIM32 XRCC1 MEGF10 NEB AMPD1 IFRD1 FXR1 ATXN3 DNM2 MYF6 SYT2 TDP1 RETREG1 MPZ RYR1 DES TBCK NEFL PLEKHG4 VPS13A ARSI GARS1 JPH1 DCAF8 POMT1 PDXK CRPPA GAN SACS SPEG HARS1 SURF1 B3GALNT2 DST PEX1 TWNK LAMB2 PNPLA6 SPTBN4 GFPT1 PLEC DYSF FXN PRX LIFR DNAJB2 LMNA MAG ASCC1 GDAP1 PNKP GNE REEP1 SNAP25 SNAP29 DKK1 MT-TT HADHB VAPB EGR2 GAA HINT1 MPV17 SMN1 PMP22 GLE1 POMT2 SLC5A7 POLG2 HSPB1 ABHD5 HSPB3 STIM1 TFG MTM1 FLVCR1 MORC2 CHAT RNF170 C12orf65 PLEKHG5 SCO2 AGRN INF2 ATP1A3 SMN2 RNASEH1 KLHL9 NARS2 CD59 SUCLG1 HADHA ALG1 BIN1 PAX7 KCNK9 PEX3 CFL2 INPP5K CARS2 ACTA1 GOSR2 PLA2G6 ATP1A1 HSPB8 SLC18A3 COL12A1 SBF2 VAMP1 PIEZO2 KLHL41 PIGB POMK SLC25A1 SIL1 ARL6IP1 WNK1 TTN CNTNAP1 GMPPB KARS1 MME TRIM2 UBA1 COL13A1 PDK3 PIK3R5 HNRNPK ENTPD1 RRM2B PYROXD1 RFC1 COX6A1 COL4A1 SPG11 IGHMBP2 JAG1 MCM3AP CDK5 ACOX1 FHL1 TECPR2 FGD4 PEX11B UGDH RAB7A SQSTM1 HK1 PGM3 BICD2 PEX2 KBTBD13 ALG14 CHCHD10 COLQ TCAP MYOT AARS1 KIF1B MARS1 SLC52A2 PPP2R5D TBCD XK DPAGT1 IBA57 TYMP LRP12 LGI4 ERCC8 ASAH1 C19orf12 PNPLA2 SAR1B ATXN1 POMGNT1 APTX FIG4 HSD17B4 PDSS1 OPA3 LRSAM1 OPA1 SLC25A21 MYO9A SLC12A6 GJB1 DHX16 MYPN DAG1 FKRP SPTLC1 TPM2 RMND1 MTTP POMGNT2 ZC4H2 MYH14 CNTN1 B4GAT1 ORAI1 ADCY6 SCN9A PRNP MED25 MRE11 SLC25A4 HP_SPASTIC_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPARESIS SOX4 FAR1 KCNJ6 IFIH1 WDR62 ADAR EXOSC8 ERLIN2 FBLN1 LIPT2 PAFAH1B1 GSS MFSD2A EIF2S3 MOCS1 EARS2 PLA2G6 LYRM7 SDHD HSD17B10 PRPS1 LMX1B SLC35A2 LIPT1 PSAT1 REEP1 ABCD1 PSAP FA2H SDHAF1 SMC1A ALS2 PRDM8 PLP1 MT-ATP6 SDHA PSEN1 PHACTR1 SOD1 NUP62 SLC18A2 ATP6V1A TRAPPC4 COA8 TBCE MRM2 GM2A L2HGDH KCNQ2 SDHB TACO1 AUH RERE STAMBP STXBP1 PRUNE1 HP_MENINGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGITIS CR2 CIITA CYBC1 ERAP1 TLR4 C4B IGHM CXCR4 BTK FOXP3 C8B CD19 JAK3 TBK1 NLRP3 MEFV ICOS WIPF1 HLA-DPA1 BCL6 RFXANK CYBB TNFRSF13C CARD9 TNFRSF13B RFXAP TCF3 WAS CYBA UBAC2 BCL2 SLC35C1 RFX5 CCR1 IGLL1 CD40LG HLA-DRB1 CTLA4 NCF1 BLNK STAT4 VANGL1 LRRC8A PRF1 HLA-B CFB TFRC TLR3 KLRC4 IL23R DNASE1L3 PTPN22 IL10 FAS NCF2 IL12A HLA-DPB1 NDE1 PIK3R1 RAG2 PRTN3 CD79B IL12A-AS1 SH2D1A C4A CD79A C8A MRTFA RAG1 XIAP NCF4 IL7 NLRC4 HP_GAIT_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_DISTURBANCE CLIP2 LRP5 COMP NODAL PDHX UNC80 VCP GNB1 YY1 SYNE1 AP4M1 AIFM1 QRICH1 SHANK3 KIF5A SLC9A6 GYG1 PMS2 SLC1A2 SPATA5 PROKR2 SCN4A ATP13A2 MAPT B9D1 KCNQ5 ARCN1 IL17RD STAT4 BEAN1 TOP3A IQSEC1 IL23R ATXN2 SPG7 GBA2 XRCC1 KCNA1 HTRA1 B4GALNT1 COL10A1 KATNIP ADH1C ACTL6A MECP2 HPDL NEFH VPS13A NEB MT-TV TANGO2 PIGP MSTO1 AP1S2 MLH3 GABRA2 TTN DEAF1 PRX TWNK ADCY5 DNAJB2 GFM2 GALC TBC1D24 DSTYK LMX1B PEX6 CPLX1 PMPCA PYCR2 SDHA CARS1 GOT2 POLG2 POMT1 SATB2 ERCC8 HARS1 VAMP1 PTCH1 DLL1 WNT1 TRPC3 MAST1 NOTCH3 PANK2 FGF12 ATAD3A CFL2 TACO1 SPTBN2 YWHAG TRPV4 MARS2 ACTN2 PDYN CCDC88C GRIN1 KIF1C PIEZO2 RRM2B KCNC3 NHLRC1 GMPPA TYROBP HSPG2 PMP22 CACNA1A SEMA3A MPZ TMEM216 REEP1 KMT2E KCNB1 RLIM RHOBTB2 CDK8 FA2H RFC1 TONSL SLC30A10 MT-TF CAMK2A MCM3AP TECPR2 SERAC1 SYNGAP1 TDGF1 BSCL2 PIGS PRKAR1B HK1 UBE3A AP4S1 RPL10 BICD2 ACBD5 ITPR1 PRNP AP4B1 SLC34A3 SCN1B SLC6A5 LTBP4 GTF2H5 RBM10 ERAP1 MYL2 LRP12 ACTA1 NF2 HACE1 MBTPS1 CEP120 PNPLA2 ATXN3 TAF1 MME LAMB2 GJA1 SCARB2 SCN3A FIG4 DDX3X PSMD12 ARX GLI2 OPHN1 GEMIN4 ZFR ZEB2 RNF113A MEFV GLRX5 HLA-B COQ5 GABRA5 FGFR1 MYPN DDRGK1 HNRNPK PRKN STXBP1 GABBR2 CCN6 WDFY3 NKX6-2 SELENOI RERE MFN2 MRE11 SCN9A MMADHC CACNA1G PGAP3 PEX5 VPS37A COL2A1 NTRK2 DNAJC3 FGF17 MAFB SELENON VPS35 ATCAY TPM3 TRMT1 GLUD2 FEZF1 DLAT FAN1 CPT1C MED13 GTF2IRD1 SZT2 PNPO ALG2 AP4E1 THG1L DARS2 SNCA AFG3L2 ST3GAL3 TGFB1 PDE6D SLC25A46 PTS ATP6AP2 CYP27B1 MT-TS2 OPA1 SYNJ1 PRKCG FBXO38 DNM1 DYRK1A PPP3CA ADAR PNPLA6 DYSF MYOT TFG VDR TK2 GCH1 GRN FAM126A TCTN2 RFX5 HCN1 CDK19 MPV17 MT-ND6 HSPB3 CEP41 DHX30 RNF170 PURA KLHL9 IL12A-AS1 TPM2 GOSR2 ATN1 TLK2 CPLANE1 COASY ANO10 NRXN1 EIF2AK2 CHCHD2 SPART SLC25A1 SDHD UBA1 PODXL GDAP1 LAMP2 FOXH1 MAP3K20 GPHN CHKB SIX3 FAT2 EIF2B4 GPT2 PLEKHG5 NEUROD2 STUB1 SHH IGHMBP2 VLDLR ACOX1 POLG ACTL6B PLP1 ZC4H2 HERC1 DNAJC6 SGCG SLC17A5 KBTBD13 SNRPN CDON HACD1 GJC2 PIGY SPAST NEU1 CLCN4 RAI1 KCND3 COLQ ALPL KIF1B PEX2 ASPA DMPK ATP2B3 NPHP1 MFSD2A COL12A1 RNASEH2A TBP CA8 PLA2G6 C12orf65 FGF8 CYFIP2 PSAP APTX PIK3R5 FBXO7 PIGO SLC12A5 CAPN1 BVES TGIF1 ARSA RUBCN FKRP SLC18A2 PARK7 MT-TE SAMD9L FARS2 LNPK SLC25A4 CWF19L1 ARV1 PIGW VPS13C MMP13 WDR48 ERLIN1 PDGFRB GABRG2 KCNQ2 TTPA TRMT10A AP5Z1 FCSK HNRNPH2 GLRB MT-ND1 MLXIPL MYH7 SLC33A1 LARGE1 NTNG1 CYP2R1 KIF1A PINK1 GBA ALDH18A1 SCN8A COL9A2 COL9A3 MATN3 MT-CO1 SETX SLC6A17 SLC20A2 NKX2-1 CRPPA AR NDUFS8 SPG11 TELO2 PDE10A CHMP2B SQSTM1 TMEM67 SNX14 PCDH19 TRAPPC11 HSPB1 CHRND DYNC1I2 EIF2B2 PPP1R15B HINT1 GPAA1 PLD3 TRIO SHMT2 SLC5A7 TPP1 HERC2 SLC39A14 IL12A SIGMAR1 CUX2 AGRN RNASEH1 SMARCAL1 NOL3 ARL6 BIN1 RNASEH2C DDHD1 LRRK2 CERT1 FKBP10 CAMTA1 MT-TK CEP104 PDE8B NACC1 MAB21L1 SNAP25 IFIH1 MTFMT RPGRIP1L RFXAP TRAF7 EIF2S3 ASAH1 LMNB2 FXN IBA57 SLC2A3 GMPPB PRDM5 COL13A1 PRPS1 SLC39A8 SLC1A4 MT-CO3 NOP56 SUFU WASHC5 REPS1 FMR1 HNRNPA1 GNPTAB GTF2E2 NSMF MT-TW PCNA MAPK10 CFAP43 UBA5 GBE1 POMGNT1 TBC1D23 SLC25A21 CNKSR2 GALT KCNA2 MTOR PIGG SLC19A3 NT5C2 ATP6V1A SLC9A1 GABRA1 NDNF ELOVL4 ERCC6 ATP7B SDHB GJB1 B3GALNT2 PACS1 KMT2B APC TMEM43 TRIM32 EXTL3 CTBP1 AP2M1 TUBB4A DNAJC13 FLII STAC3 DKK1 ELP1 VPS33A INPP5E MARCHF6 CRYAB KIF7 THRA IL10 FLRT1 PDGFB POMT2 TANC2 DISP1 MAGEL2 PSEN1 PLEKHG4 PNPLA8 ARSI BAP1 KDM5C EEF1A2 UBAP1 GFPT1 CLTC ADGRG1 ATL1 PPP2R1A ARG1 PRKRA LMNB1 PACS2 ENTPD1 NDUFAF6 ARL13B ATP7A POU3F4 CRAT GLE1 LMOD3 BRAT1 EMD CIITA ABHD5 ATXN1 THOC2 APP C19orf12 CHD2 SYNE2 DNM2 GRID2 LDB3 IQSEC2 PGAP1 MT-TH WARS1 INF2 AIMP2 CHST3 SCYL1 NTRK1 REEP2 GRIA2 MSH2 CCDC141 CHD4 LRAT RNU12 FLNA TERT CC2D2A ERCC3 GRM1 CYP7B1 TGFBR2 CHD7 KARS1 TRIM2 BBS1 EMC1 MDH2 ZFYVE26 DALRD3 ANO5 MFF SCN1A NEFL EIF2B5 RAB39B C9orf72 TMEM106B ERLIN2 ALG14 ZMPSTE24 KIAA0586 KY RARS1 CLN3 HSPD1 CHCHD10 ZIC2 MATR3 FAR1 DPAGT1 SLC25A19 ATRX PMS1 KAT6A ATXN8OS SGCB LMNA WWOX ELN CAV1 RANBP2 LRSAM1 BCORL1 HNRNPA2B1 DUSP6 GIGYF2 EGR2 SPRY4 RPS20 SNORD118 FLNC CAD DMD USP8 CACNA2D2 PIK3CA DHTKD1 NIPA1 TREM2 MT-CO2 GAS1 COQ2 TIA1 LYST ANOS1 TRAK1 ARMC9 C11orf95 FDXR TMEM240 CHD3 DHPS LARS2 LYRM7 KRAS RTN2 EPM2A PAK1 FKTN RIC1 SBF1 DNAJC12 MYF6 MSH6 SYT2 UFSP2 TOR1A SPEG SURF1 OFD1 EPCAM FDX2 TBL2 MT-ND5 CHAMP1 ITGA7 ZFYVE27 HESX1 GNE CSF1R KCNA4 DYNC1H1 TCF4 PDK3 UBAC2 CYP2U1 WDR81 ABCA2 NUP62 ERCC1 DOK7 ADSS1 GLB1 LIMK1 SIM1 AKT1 SGCA MT-TL1 CHAT FOXG1 AHI1 EXT2 SMS PAX7 C4A SIL1 MT-ATP6 SLC18A3 CHRNG EPRS1 DCC ARL6IP1 NR4A2 PGAP2 ACAN ATP1A3 PMP2 MTHFR RYR1 CCR1 MED25 TCTN1 AARS1 DYM DAB1 NAA10 TMEM107 GRIN2D L1CAM HLA-DQB1 NTNG2 PIGL MT-ND2 PDHA1 WDR11 PPP2R2B SLC16A2 FLVCR1 ERCC2 RFXANK DNM1L NUS1 CANT1 DCTN1 DNA2 DOCK3 FHL1 CAPN3 DNAJB6 HSD17B4 PIBF1 FGF14 SLC39A13 SGCD ATP8A2 INTS8 LRP4 BMPR1A MICU1 COA8 MORC2 KISS1R POC1A SEC31A FTL MTMR14 USP9X ABCD1 MYT1L TTBK2 GABRB2 CACNA1B FUS JPH3 LAMA2 FAS FAM149B1 SORD ORAI1 IKBKG RFC2 WDR45B GABRB3 PLEC DAG1 DDX6 KIAA0753 SPG21 MEF2C AGTPBP1 PTH1R ATP1A2 STRADA COL9A1 EIF4G1 NOTCH2NLC ZNF469 GDAP2 SCN2A HS6ST1 STAG2 TMEM237 ATP1A1 ZMIZ1 VAC14 ADSL SMO INTS1 RSPRY1 DOCK7 HSD17B10 CUL4B ALS2 CASK COX6A1 ATP10A P4HTM CAMK2B SVBP MIEF2 HTRA2 TREX1 GAN CCDC28B MT-TQ CDK10 PRDM16 GRIA4 UROC1 MLH1 TPI1 TARS1 TBR1 ADAT3 MARS1 PPP2R5D SLC13A5 CCT5 TRAPPC2L ATXN10 EP300 ZBTB20 TSEN15 CIZ1 SOX10 ATM SYT1 SLC2A1 HTT PABPN1 BAZ1B MKS1 MYO9A KLRC4 WARS2 TH TIMM8A KLHL41 PROK2 COA7 PRRT2 DHH OCA2 DCPS SEMA4A TRAPPC4 PLOD1 DHDDS RNASEH2B SLC25A15 UCHL1 SMARCE1 LONP1 SAMHD1 SLC35C1 NDRG1 NECAP1 FBXW11 NUBPL SYT14 GTPBP2 GTF2I IFRD1 TGM6 MTR TDP1 EEF2 DCAF8 SACS OPA3 SMC1A SMARCB1 FRRS1L OTUD6B CTNNA2 MAN1B1 RELA MBOAT7 GLRA1 NGLY1 SDHAF1 HADHB WDR26 EIF2B3 MPLKIP INPP5K TCF20 SH3TC2 UBTF RAB11B SBF2 USP7 ELOVL5 CSPP1 EIF2AK3 ASXL3 CACNA1E VWA3B FGD4 AMPD2 ERMARD KCNAB2 PDP1 GARS1 TAZ ATAD1 MAN2B1 CDKL5 SLC35A2 PUS3 TACR3 KLC2 C12orf4 GABRD MT-ND4 NAT8L SNCAIP FN1 TCTN3 RPS6KA3 EIF2B1 MGAT2 ERCC4 MTPAP TKFC MAPK8IP3 NOG MRPS34 FOXRED1 ZSWIM6 MICOS13 DES TBCK SLC30A9 VPS51 POPDC3 KDM5B FBN1 PEX10 DDHD2 NARS1 KCNJ10 GNB4 MYH2 MMP2 SKI BCL11B PIGV PPM1D MTM1 UQCRQ MYH3 SCO2 HADHA VAMP2 ERBB4 TUBB3 MAP1B MED12 HYLS1 SLC6A8 MECR PREPL RNF125 EED ATP5F1D RAB7A CLCN2 SUCLA2 TUBB2B AP3B2 VPS13D TCAP WASF1 CLIC2 GSX2 TLR4 MTRR XRCC4 RNF168 BPTF MCOLN1 HPCA ARL3 CREBBP SLC52A2 WNT3A FLRT3 DHX16 KMT2A PARS2 VARS1 MT-ND3 MTTP DPM3 EBF3 CP HP_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFUSION MAN2B1 FIG4 CUBN SLC25A13 CDKN1B CHRNA2 ABCA7 ERAP1 CDKN1A CPOX TLR4 ATP1A2 ERCC4 SLC25A15 TBK1 CACNA1A SLC2A1 PRNP ATP13A2 CDKN2C ERCC5 TBP ABCD1 MMACHC GNAS PSEN1 PRDM8 UBAC2 NAGS HADH EPM2A CCR1 TREM2 TOMM40 PSEN2 APP STAT4 ERCC2 SLC19A3 SLC22A5 MEFV HLA-B TLR3 KLRC4 IL23R CDKN2B HMBS IL10 NHLRC1 HLA-DQB1 FAS IL12A SCN1A ADAMTS13 DNMT1 NOTCH3 MEN1 SORL1 PRRT2 IL12A-AS1 POLR3A ERCC3 C4A MT-TE PRDX1 HP_GENERALIZED_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOTONIA DCPS KDM6A UBR1 UNC80 PUF60 TRAK1 MCOLN1 GNB1 KMT2C STT3A XYLT1 CHD3 PEX5 DLL1 NDUFB3 GCSH QRICH1 KCNH1 SUZ12 MAG LYRM7 SHANK3 KCNMA1 SLC9A6 CCDC115 LARS1 PEX12 BCS1L SLC1A2 C12orf4 MTOR TUBB CYFIP2 KCNQ5 PHACTR1 MRPS22 NODAL POGZ PAK1 NPC2 PRF1 SLC25A10 KIF22 IQSEC1 ARSA ARL3 RAC1 PDHB SLC12A2 SPART ARID1A PMPCB NSD2 NEB DHCR7 ASXL1 TGFB1 DNAJC12 POMT1 GPX4 GNAI3 CIC MYF6 KIAA0586 GARS1 NFIA TANGO2 SPEG MSTO1 OFD1 POU3F3 ALDH18A1 AP1S2 FDX2 SFXN4 SPTAN1 B3GALT6 POLG2 GABRA2 ALG9 GPC3 CHAMP1 WASHC4 TWNK DNM2 PIK3CA SLC45A1 PEX16 MTO1 CHAT ADNP GRID2 TXN2 TCF4 PEX6 GNB5 NKX2-1 HERC2 MYOD1 CPLX1 ECHS1 SDHA LAMA1 KCNK4 ACTB TMEM67 FBXO31 TRAF7 SARS1 RNF13 GPAA1 MSL3 PEX3 NFASC MAST1 LINS1 MTFMT COG7 CACNA1A CYP24A1 TANC2 NARS2 DALRD3 SPECC1L PAX7 LAGE3 ODC1 CFL2 NPAP1 SIL1 EBP ZC3H14 YWHAG DMPK GFPT1 KIF7 SNORD116-1 COX10 NSUN2 CHRNE PIGG KIFBP PIEZO2 NOVA2 KCNC3 MAMLD1 SLC46A1 MN1 DIAPH1 SELENON GMPPA ADSL GNAO1 NCAPG2 PMP22 TTN SIX6 GLUL CHMP1A TMEM216 ATP1A3 CEP104 UFM1 HLCS KCNB1 RLIM RHOBTB2 FUT8 CDK8 MKRN3 SNORD115-1 MARS2 COL6A3 POLG FKRP CLCN4 ACADS C12orf65 GPT2 MED25 MCM3AP AARS1 TECPR2 NAA10 SERAC1 TMEM107 UGDH MYH7 GRIN2D FLCN PEX10 PIGS PIGL LAMA2 HECW2 COL13A1 MAN1B1 TNFRSF11A PEX2 EXOSC3 LARGE1 EDC3 TARS2 MPC1 ATP6V1B2 FASTKD2 ZBTB20 C12orf57 ERCC2 SLC34A3 PIGK D2HGDH EFNB1 NONO MPV17 GTF2H5 SLC25A20 NUS1 LTBP4 RBM10 NDUFA11 AMMECR1 CANT1 PGAP2 MMAA GABRB1 KCNT1 ACTA1 IQSEC2 TDP2 HDAC8 LGI4 SLC25A24 SLC25A4 ST3GAL3 PNPLA2 B4GALT1 DOCK3 TAF1 PLEKHG2 MMACHC GABRA5 NDUFAF4 NOTCH3 ARV1 SCN3A ATP6V1E1 METTL5 NDN HCFC1 CEP120 B4GALT7 RSRC1 CTNNB1 OPHN1 DLD VDR CDON GLRX5 TRNT1 COG4 MYPN PRMT7 STRA6 SC5D NRAS EPG5 DCHS1 DPAGT1 COQ9 TPM2 LRRC32 DDX3X KCNQ2 TRMU ZIC2 ATP6V0A2 ACACA SHH ASXL2 FBXW11 NKX6-2 COA8 TSEN2 TRAPPC6B MORC2 SNRPN MRE11 POC1A RRM2B VPS33B TET3 NDUFS4 PGAP3 RNF113A NTRK2 COX4I1 ACO2 SLC25A15 MBOAT7 SYNJ1 PIGV CD96 MTMR14 CSPP1 MKS1 NUP133 CLIP1 KIF1A ATCAY FLAD1 CYP27B1 MAPK1 AMER1 TPM3 NANS FBXO11 GABRB2 NDST1 FARSA POLR2A KDM3B PGM3 MED23 TBC1D24 ADK RPL10 SLC33A1 ZNF462 ASH1L ALG13 HIBCH HACE1 SLC5A7 FAM149B1 SZT2 CRBN AIFM1 PC ADAM22 ALG2 BMP1 STXBP1 TRRAP HNRNPK SIX3 TRIP12 PDE6D SLC25A46 RAI1 ZBTB18 GRIN2B CCDC78 NDUFB8 RPS6KA3 SYNGAP1 EZH2 HNRNPU DNM1 LAMB2 NDUFA10 PPP3CA SOX4 PMM2 FGF8 HADHB MRAS KIAA0753 TK2 ERCC6 TCTN2 MEF2C KDM6B ZIC1 HCN1 CDK19 STAG1 CNOT3 SMARCC2 EXT2 SOX2 ITPR1 CNOT1 AGTPBP1 PRODH ABCD4 PEX1 NAGA PNP SSR4 PET100 PLP1 CAMK2A KCNJ10 PHKB SLC25A42 EHMT1 STRADA SARS2 SHOC2 BOLA3 CDK13 METTL23 COL2A1 ADAT3 DHX30 NEPRO CHST3 MYO5A COX15 KCNT2 KCNN3 CPLANE1 RPGRIP1L SLC22A5 CASR CD59 PTRH2 DEAF1 KCNK9 CTU2 MRPS28 KDM5B GLDC RYR1 STAG2 PLA2G6 TLK2 TOR1A ATP5F1A B9D1 CLCNKB SLC7A7 PHIP PPP2CA NRXN1 CNOT2 OGDH GMPPB CSNK2B RSPRY1 TIMM50 OTX2 SDHD SLC35A2 CC2D1A SIN3A MAP3K20 QARS1 EIF2B4 CRPPA BCOR NSDHL HADHA SLC2A10 TUBA1A COLQ PUS7 MIPEP P4HTM MMAB ARID2 CAMK2B CHRND HPRT1 SLC18A3 ACTL6B POU1F1 GAN MOGS CDK10 ZC4H2 SON SLC17A5 KBTBD13 BCKDHA SOX5 LONP1 TDGF1 SLC39A8 CSF1R PMPCA MTX2 TPI1 TARS1 TBR1 PEX19 PPP2R5D AIMP1 SLC13A5 GNPAT KDM1A NDUFS3 MFSD2A ALDH6A1 EP300 TSEN15 C19orf12 HEPACAM RNU4ATAC SERPINH1 ETHE1 PSAP HERC1 TRAPPC9 COL6A1 NALCN TOE1 FARS2 NFIX BRAF SGCE EEF1A2 PEX13 PRKD1 NGLY1 LAMB1 PUS3 TRIT1 KIF14 ACAT2 RMND1 NPC1 GCDH ACADVL FKTN ARFGEF2 STAMBP CSNK2A1 MYO18B ADCY6 DPM1 BIN1 LNPK DHDDS COL12A1 HSPD1 IFIH1 ATXN10 ALDH7A1 TRIP4 ARL13B COX6A2 ACADM KIAA1109 TP53RK GABRG2 FARSB NDUFS7 FCSK CHST14 PPA2 HNRNPH2 MED13L BPTF NDUFA13 ACTN2 NDUFAF2 TELO2 MLXIPL SLC35C1 ARX COL1A1 MCCC2 VARS2 NECAP1 NDUFA12 CYP2R1 GALE ISCA2 DLG3 SMPD1 ATP6V1A GTPBP2 SCN8A MPDU1 COL1A2 ABCC8 DHFR FRRS1L MTR SLC35A1 TBCE CHD1 PRUNE1 CRADD AGA RPS23 ALAD NDUFS8 OTUD6B FBP1 MCCC1 BMPER AUTS2 CTNNA2 ARHGEF2 DNM1L TPK1 TRAPPC11 INPP5E PHF6 DYNC1I2 EIF2B2 MLYCD SDHAF1 MITF SYNE1 WDR26 HIKESHI PWAR1 EIF2B3 CASK SLC18A2 PTDSS1 COQ8A WASHC5 RET GRIK2 MPLKIP INPP5K IRF2BPL MICOS13 CCDC47 KANSL1 KCNA2 CBL SNIP1 HSD17B10 GAA NARS1 ATIC IARS1 SCO1 YME1L1 HIVEP2 PCBD1 ATXN2 COQ7 SUFU ATP7A CLCNKA NEMF PRX NACC1 RAB11B SMARCA4 POMT2 DPYD PLCB4 FMN2 PIGB RFT1 TKT EIF2S3 MRPS2 GRM1 SPRED1 USP9X TMEM94 ASXL3 VIPAS39 LETM1 SMC1A POLR3A SETD1A ALG8 SMG9 GBE1 KPTN UBA5 PNPT1 HADH KAT6B RETREG1 SLC1A4 B3GAT3 PGAP1 VRK1 DDX11 OSTM1 AP1S1 PSMD12 ERF CPT1A PDP1 SNX14 UBE3A MED12 KATNIP DNA2 REPS1 GAS1 TUBB2A SUOX BTD PIGH AHI1 LMAN2L TRHR CAMK2G YIF1B ST3GAL5 SETD2 KLHL41 MAN2B1 DDOST NDUFA6 PPT1 HTRA2 ARHGAP31 CDKL5 DYRK1A COL6A2 USP7 OSGEP ALG12 BCKDHB SLC25A26 SOX9 MACF1 PEX14 CLCN7 BRWD3 DAG1 PRKCG STT3B DPM2 TBC1D23 CNKSR2 DCC SLC12A6 BCORL1 PBX1 DBT TECR ACAD9 ADARB1 PDHA1 NAT8L SDHB CEP290 PIGT KIF5A TCTN3 LRPPRC PTEN CLTC INPPL1 PIGC TSFM SCN9A EXOSC9 GNE PHKG2 MTM1 TMEM165 APC EIF2B1 FOXG1 MGAT2 C2CD3 TSHB TIMMDC1 NDUFB9 PHF21A TMEM70 MYMK EXTL3 COG6 CTBP1 AP2M1 DOCK6 PTCH1 MAPRE2 ACP2 AP3D1 NAXE DISP1 MAPK8IP3 ZNHIT3 SGPL1 DHTKD1 GTPBP3 MRPS34 FOXRED1 GTF2E2 AMT BMPR1A ZEB2 LIAS ACY1 ZSWIM6 NDUFV2 ARMC9 SCO2 GRIN1 SLC9A7 POMGNT2 USP18 GM2A CCDC22 TRMT5 PRSS12 PNPLA8 TRMT10C ZNF148 VPS51 COLGALT1 DDR2 LMOD3 BCL11B PIGN ANK3 LIFR GPC4 PUM1 PPP2R1A ASCC1 FOXH1 GABBR2 PACS2 TCF20 CLP1 BSND TH NDUFAF6 MED12L COG1 KMT2D MT-TN ALDH5A1 PRNP TMEM63A CRAT FAT4 CTCF SMARCB1 GLE1 NEU1 PPM1D ATXN1 ELP1 FLVCR1 SET IFT81 UQCRQ EDN1 ALG1 MAGEL2 FAR1 MT-TE CUX1 CHD4 PRDX1 VPS13B VLDLR ALPL ITCH COX6B1 MANBA PACS1 ERCC3 TRPS1 SURF1 WNK1 NPHP1 FGF12 CNTNAP1 SRD5A3 GABRB3 SLC1A3 TRIM2 SLC6A8 ATPAF2 EMC1 PREPL RNASEH2C GPHN CACNA1C HNMT PRPS1 AHDC1 CUL4B RNF125 SCN1B EFEMP2 EED DGUOK B3GALNT2 BUB1B SKI TGIF1 PIGO BRPF1 TUSC3 MVK LMBRD1 SUCLA2 EIF2B5 GDI1 TNIK MPI EZR AP3B2 FBXL4 TMEM106B ALG14 TRMT1 IGF2 RERE GLI2 CEP57 PPP1CB UQCC3 NDUFS1 MMUT WASF1 NUP214 NDUFV1 PTCHD1 SLC52A2 OXR1 RAB3GAP1 SLC13A3 GALNT2 FH IARS2 MTRR TMEM237 HUWE1 MMADHC CDC42 SLC35A3 CPT2 ELAC2 DNMT3A PWRN1 KAT6A NDUFAF5 FGFRL1 RARS2 LRP5 WWOX AGK CREBBP ELN CACNA1B PLOD1 SMS HEXA TASP1 EGR2 PAX8 DPF2 DHX16 CEP41 KMT2A MPZ WAC KMT2E ACADSB TMEM199 PARS2 FOXP1 CAD DMD VARS1 FIG4 CWF19L1 EBF3 RORA SPTBN2 CNTNAP2 ATAD3A POMGNT1 UBE3B HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY NOD2 VCP CDKN1A SOST PRKAR1A CHRND COL6A1 PEX19 SMARCE1 COCH DMD GDI1 GNAQ BTNL2 GDF6 EYA1 GMPPB MYH7 CDH23 ARHGEF6 PEX1 CLCF1 NEB GSN TNFRSF11A POMT1 PEX10 AGRN NEFL SYT2 SEMA3E GAN SPEG ANKH CHRNA1 SMARCB1 RYR1 CRPPA POLG2 OSMR TRPV4 SCN4A UPF3B GNE SELENON MEN1 SNAP25 CHRNB1 COL6A3 PEX13 COL3A1 SALL4 IQSEC2 EGR2 HRAS DOK7 SHMT2 MTM1 AKT1 ANO5 SLC25A11 HLA-DRB1 CLCN7 CHAT C12orf65 CAPN3 CHRNE NARS2 YME1L1 MYPN SNX10 ACTA1 SH3TC2 TPM3 NF2 DMPK GFPT1 TNFSF11 SLC18A3 PEX11B SIX1 MUSK VAMP1 POMT2 PEX12 TRAF7 KLHL41 PLEC MEOX1 CNTNAP1 TTN PAK3 COL13A1 LRP5 COL4A1 TUBB3 DCTN1 VHL MECP2 ACADS LARGE1 TWNK PEX6 CDKN2B MTMR14 AGTR2 SQSTM1 HOXB1 CNKSR2 ANGPTL6 GJC2 SUFU SDHB BIN1 HNRNPA1 MPZ ABCA1 TK2 AMER1 LRP4 MAX ZNF41 LRP12 TCIRG1 ASAH1 DNA2 KLHL40 SLC9A7 LAMB2 FRMPD4 CHN1 DES ADGRG1 SDHC THSD1 CXorf56 DLST SLC12A6 SRPX2 TPM2 SLC29A3 FTSJ1 HCFC1 DLL4 FKRP KIF1B PTDSS1 REV3L ALG2 MYMK ITGB4 POLG EPAS1 PEX5 TUBB6 CRYAB SLC5A7 SDHAF2 TRIM32 RPS6KA3 MEGF10 FH SLC52A3 TGFB1 SMCHD1 MGME1 BAP1 PEX14 TGFBR3 DLG3 SDHD LMOD3 SPTBN4 SIX5 CDKN1B MAFB COL6A2 CACNA1A ADA2 PDGFB CHD7 DKK1 USP9X PEX26 PTRH2 DNM2 GLE1 ATP1A2 CHCHD10 SDHA UGT1A1 FGF3 NF1 CFL2 MED12 SCO2 ACSL4 DNAJB6 SMO AK9 COL12A1 TERT SLC25A1 CRLF1 BAG3 GDF3 ZNF81 RET CHKB KARS1 UBA1 CDKN2C SLC25A4 RRM2B PYROXD1 SYP PLEKHM1 MID2 TMEM127 ADSS1 ZNF711 SCN1A SUCLA2 ZC4H2 KBTBD13 RAPSN PEX16 ALG14 TFAP2A COLQ KY CLCN4 ALG13 FRG1 GJA1 SLC52A2 PLXND1 PRRX1 DPAGT1 DNMT3A MDH2 PTCHD1 TSPAN7 RAB39B PRNP AIP SLC39A14 PEX3 ENG USP27X ARX FKTN BMS1 PABPN1 MTMR2 MYO9A HNRNPA2B1 PUF60 SGCD HK1 LAMA2 PI4KA OTX2 IL1RAPL1 PRRT2 CA2 PIK3CA PEX2 ADCY6 HP_CRANIAL_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_NERVE_COMPRESSION SDHD CLCN7 VCP CDKN1B CDKN1A MAX DNMT3A MDH2 SDHB TCIRG1 CACNA1A RET COL4A1 CDKN2C DKK1 EPAS1 VHL SDHC PLEKHM1 ATP1A2 DLST TNFSF11 TMEM127 SDHA HNRNPA2B1 CDKN2B SLC25A11 SDHAF2 FH SCN1A SOST NF1 TGFB1 TNFRSF11A MEN1 PRRT2 CA2 SNX10 HNRNPA1 KIF1B HP_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE ZAP70 CLIP2 JAK2 MYH11 WFS1 OTC MT-TS2 NKX2-5 ERCC6 TGFBR2 SMAD4 MT-CO3 PRKG1 HSD11B2 TET2 THPO APP MMACHC ACTC1 ACTA2 MT-ND1 SLC19A2 MLXIPL MYH6 CYP11B1 B3GALT6 MT-TF ACVRL1 TP53 KCNQ1 GTF2IRD1 GTF2I VHL HTRA1 SMAD3 ENG SCN5A NOS3 MECP2 MT-CO1 RFC2 GATA6 ELN GUCY1A1 MTHFR GNAQ TGFBR3 F5 FBN1 MYLK CST3 ASS1 PMM2 TBL2 BRCC3 MT-ND5 MT-TC MT-TL1 COL4A1 ADA2 SON SNAP29 COL3A1 MT-ND6 NAGS XYLT2 TREX1 MT-TV TNXB LIMK1 MFAP5 RFT1 GATA4 KIF20A CITED2 GYS1 MT-CO2 MT-TH NR2F2 PRKAG2 NOTCH3 SMARCAL1 TGFB2 MT-CYB CPS1 TLL1 FLNA GLA TNNT2 MAT2A TPP2 TBX20 MYPN MPL MYBPC3 SLC2A10 PCNT DYRK1B NF1 PRKCH JAG1 MT-TQ NR3C1 MMUT ENPP1 KRAS PIGA ACTG1 AGXT NPPA PNP MT-TW TTR FOXE3 ACTB ANGPTL6 CRELD1 CBS ZMPSTE24 TGFB3 MT-TK GDF2 HBB CCM2 FLNC XYLT1 TNNI3 ERCC8 ABCC6 DPM3 ALOX5AP PRNP RNF213 THSD1 CALR MYD88 BAZ1B TGFBR1 PIK3C2A LOX F2 ACAD9 SH2B3 MT-ND4 TANGO2 STIM1 LMNA HP_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOPATHY NDUFA11 NDUFS4 ARV1 TUFM UNC80 TRAK1 PCK1 FBLN1 MT-TS2 NTRK2 SLC25A15 NDUFB3 GCSH GABRG2 KCNB1 SYNJ1 MT-CO3 LYRM7 KCNQ2 NADK2 ALMS1 GBA DOCK7 TMEM70 BCS1L TIMMDC1 SLC1A2 NDUFS7 NDUFV1 GABRA1 FCSK CARS2 NDUFS6 SCN2A MMACHC NDUFAF2 NAXE CYFIP2 MT-ND1 HIBCH WWOX SLC25A12 KCNQ5 PHACTR1 GABRB2 ZNHIT3 PAFAH1B1 ARHGEF9 CACNA1B NECAP1 MT-TF CNPY3 AMT LIAS SZT2 PMPCB ACY1 SCN8A HTRA1 PNPO TGFB1 ADAM22 NDUFV2 GRIN1 ATAD1 NDUFB10 STXBP1 SLC25A22 SLC25A13 MT-CO1 MT-ND2 NUS1 MTHFR GLYCTK SLC35A1 ST3GAL3 GABRB3 SLC2A1 GRIN2B TBCE PIGP SYNGAP1 STAT2 SCN1A KCNA2 CUX2 HNRNPU DNM1 PPP3CA EEF1A2 RNASEH2B SPTAN1 FRRS1L CHD2 CLTC MT-ND5 GABRA2 ALG9 NRXN1 HCN1 DENND5A LIPT2 RNF13 TWNK MT-TC MT-TL1 TK2 GLS DNM1L TIMM50 TBC1D24 MEF2C GABBR2 PACS2 CLCNKB CDK19 MT-TK CPT2 TCF4 TH MT-ND6 CPLX1 NAGS TRAPPC12 ATP6V1A MT-TV NDUFA1 MT-ND3 ACAD9 SLC22A5 NDUFAF5 CNTNAP2 BOLA3 PRNP BSCL2 NDUFAF3 SIK1 SCN3A KYNU NDUFS3 MT-CO2 COX15 KCNT2 MT-TH NDUFB11 ACSF3 CYC1 CACNA1A ATP1A3 NOTCH3 SUCLG1 FGF12 PCCA NDUFA6 GLDC GALC YWHAG ATP5F1A TREX1 MST1 UGT1A1 NDUFAF1 MT-CYB PTPN23 COQ2 SLC35A2 HSD17B10 GLUL NAXD PIGA FOXRED1 RNASEH2C SLC25A20 TBCD CACNA1E COG8 HADH PSAP CLCN4 NEUROD2 TMEM126B SCN1B FADD ITPA GPT2 DGUOK MT-TQ UBA5 PNPT1 TSEN54 AARS1 MDH2 ACOX1 DALRD3 NDUFS1 SERAC1 UGDH GRIN2D SLC6A1 NDUFS8 ATP5F1D SLC13A5 SLC6A9 SUCLA2 MT-TW GNAO1 AP3B2 GUF1 FBXL4 CPT1A ACADS MPC1 ETHE1 SH2D1A CCDC88A NUBPL XIAP D2HGDH DCX GPR35 MECP2 CLP1 NDUFB9 MAPK10 GABRB1 ATAD3A KCNT1 NDUFAF4 CDKL5 SLC25A1 ARX AP2M1 RINT1 IBA57 SERPINI1 HMGCL ASNS RANBP2 DPM2 MDH1 NBAS DLD CNKSR2 GALT SLC19A3 COQ4 CLPB WDR45 STAG1 COQ5 SLC12A3 GABRA5 AMACR PLCB1 TRIT1 KMT2E PARS2 NDUFAF8 COQ9 CAD TBCK MT-ND4 ACTL6B CACNA2D2 GCDH ROGDI PCCB TSFM NDUFS2 DHDDS HP_PARKINSONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM MAPT SQSTM1 ABCA7 PLAU EIF2AK2 PPP2R2B UBTF SNCB TMEM240 LRRK2 TBP SLC6A3 FTL PDGFRB NR4A2 KIF5A TREM2 GBA VCP AP5Z1 POLG A2M SNCA SLC39A14 VPS35 DNAJC13 HFE FUS PDE10A GRN ATP13A2 ALS2 C9orf72 TOMM40 PANK2 GLUD2 JAM2 TAF1 VPS13C GABRG2 JPH3 PTS ATXN2 AFG3L2 CAT TRPM7 PRKAR1B PDGFB DNAJC12 ATXN3 RAB39B ADH1C DNAJC6 EIF4G1 MECP2 XPR1 SCN1A VPS13A GCH1 CHCHD10 SYNJ1 PSEN1 ATP6AP2 SCN1B FMR1 PCBD1 COQ2 MYORG SLC20A2 CLN3 TARDBP C19orf12 DCTN1 TK2 LYST PINK1 PCDH19 TWNK PRKRA TBK1 PLA2G6 CHMP2B ATXN8OS UCHL1 FBXO7 PARK7 TH SPG11 TMEM106B HTRA2 PSEN2 APP SLC18A2 WDR45 STXBP1 COASY GIGYF2 NOS3 SIGMAR1 GABRA1 SCN2A MPO DNAJC5 NOTCH3 SORL1 ATP1A3 SNCAIP SLC30A10 PRNP APOE CP PRKN SCN9A HP_TORSION_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSION_DYSTONIA HPCA SLC2A1 THAP1 TUBB4A TOR1A TAF1 PRRT2 ADAR HP_TONGUE_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_FASCICULATIONS SLC52A2 NOP56 SCN1A SLC52A3 ADPRS TSPYL1 AIFM1 FXR1 SMN1 CACNA1A ASAH1 OPTN SMN2 RMND1 EXOSC3 UBA1 PRRT2 KCNK9 TBCD AGTPBP1 VCP SH3TC2 ATP1A2 SLC25A21 HP_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIA VLDLR GJC2 PDYN CLIP2 CCDC88C KIF1C CACNA1G ATP6AP2 ANO10 SQSTM1 KCNC3 ATXN10 ABHD12 PPP2R2B SYNE1 SPART ADGRG1 STUB1 GRM1 PDGFRB MAG CYP7B1 TIMMDC1 ATXN7 TTPA AP5Z1 ATP1A3 ABCD1 PIK3R5 NDUFAF2 DAB1 RFC1 POLR3A VWA3B GJB1 CTDP1 TOP3A SPG7 TECPR2 ERMARD HIBCH GTF2IRD1 GBA2 XRCC1 GTPBP2 NEU1 GTF2I PMPCB TGM6 SAMD9L PDGFB IFRD1 B4GALNT1 PRICKLE1 AFG3L2 WARS2 MARS2 MSTO1 TTC19 TMEM106B RFC2 POLR3B ACBD5 TPP1 PLP1 DEGS1 PNPLA8 PRNP SLC25A46 REPS1 PMPCA SACS FMR1 OPA1 MYORG SLC20A2 ABCB7 PRKCG RARS1 SFXN4 WASHC5 PEX2 TBL2 FXN UCHL1 PUM1 XRCC4 CLN5 ADPRS TCTN2 ACOX2 PLA2G6 ATXN1 POLG SCN8A ATG5 TBP FA2H ITPR1 CAV1 PTRH2 NF1 TMEM63A CRAT GPAA1 WDR81 PLD3 BRAT1 SHMT2 BAZ1B LIMK1 ELN COQ5 CAMTA1 IRF2BPL SLC9A1 SRPX2 CAPN1 PEX16 NGLY1 GRID2 NFASC PI4KA COA7 RNASEH1 KIF1A SPTBN2 LAGE3 YME1L1 RRM2B CACNA2D2 MTTP ATXN2 CWF19L1 EBF3 ATN1 NOP56 MRE11 LNPK HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY LYST DCPS TRAK1 GNB1 ERCC3 FDXR DHPS SETX RMRP COMT KCNMA1 SLC9A6 BCS1L VCP SLC1A2 C12orf4 SPATA5 PMP22 KCNA1 XPC DDB2 EOGT CYFIP2 EPM2A PEX6 PHACTR1 NOTCH1 TREM2 KANSL1 PIGQ SOX10 GABRG2 ARHGEF9 SIK1 SLC25A10 CNPY3 FKTN ARSA CACNB4 SBF1 NSD2 TGFB1 CHI3L1 ERMARD MECP2 NEFL VPS13A ALG3 SYT2 EP300 PIGP CEP85L KCNH1 CUX2 AP1S2 GABRA1 SPTAN1 PDSS2 EPG5 MT-ND5 GABRA2 FXN PEX5 PLCB1 DEAF1 PRX WASHC4 PEX26 DNM2 SLC45A1 GFM2 GALC TBC1D24 TIMM50 SCARB2 ABCC8 REEP1 RUSC2 MT-ND6 EGR2 WDR45 FBXO31 ERCC8 CDKL5 PNKP SARS1 GPAA1 GRM7 GRIN2A SCN1B MT-TL1 CHAT ALG11 AIFM1 NFASC POLG CACNA1A GABRD C12orf65 SLC44A1 FGF12 SMS LARS2 WDR73 CARS2 HPDL CEP126 ZC3H14 YWHAG CLN6 SLC18A3 NSUN2 PIGG HMGCL VAMP1 GRIN1 GDAP1 TYROBP PTPN23 YWHAE PGAP2 SLC6A19 PIGA MPZ POMT1 KCNB1 GLUD1 MADD MT-TF MED25 CTDP1 AARS1 UGDH GRIN2D FLCN NTNG2 HECW2 HK1 PDHA1 UBE3A MAN1B1 RPL10 PEX10 EDC3 IGHMBP2 MAP2K1 FLVCR1 OPA1 STARD7 PAFAH1B1 ABCA5 DCX NUS1 TICAM1 TPP1 GABRB1 ST3GAL3 ROGDI SCN3A ASNS FIG4 KMT2D MDH1 HCFC1 ARX RSRC1 ZEB2 NECTIN1 PRRT2 DYNC1H1 EFHC1 CLN8 MT-TW AIMP1 GABRA5 SRPX2 IREB2 ACTL6B ITGB6 STXBP1 ERCC4 GNB5 TPI1 MORC2 RERE SCN9A PEX11B TET3 PGAP3 NTRK2 ERCC6 COX4I1 SLC25A15 MBOAT7 SYNJ1 LTBP3 SUMF1 DOCK7 CLIP1 KIF1A GABRB2 RAI1 NDST1 MED23 PLP1 SETD1B NUP188 ALG13 LAMA2 SORD SCN2A SZT2 CRBN POGZ TMEM106B COQ2 ATAD1 GRIN2B CILK1 DAOA TPRKB NRAS GLYCTK GABRB3 JPH1 PEX13 PTS AHDC1 SLC2A1 MT-TS2 NALCN PRICKLE1 SYNGAP1 SIGMAR1 DRD3 GUF1 KCNQ3 FBXO38 HNRNPU DNM1 PPP3CA TYMP ALG14 DENND5A LIPT2 RNF13 LMNA STX1B UNC80 GRN FAM126A NLRP3 APC2 PSAT1 HCN1 CDK19 FOXP1 PRODH PTRH2 MPV17 IDUA ATP1A2 HSPB1 METTL23 SNRPN PLPBP NOTCH2NLC NEUROD2 KCNT2 KCNQ2 MAF ANKRD11 KDM5B PLA2G6 HSPB8 MFN2 PEX14 SCN8A SLC25A1 SLC35A2 CC2D1A NDP CUL4B KRAS PDK3 TRIM8 STUB1 ATP10A SAMD12 ERCC5 KCNJ11 P4HTM SLC6A1 NHLRC1 SLC13A5 MT-TQ PNPT1 PEX3 PRDM16 GJC2 PIGY NEU1 MATR3 PEX16 CLCN4 KIF1B PSEN1 SLC12A6 CCT5 MED13L ADRA2B ERCC2 NLGN4X ATXN10 TBK1 IER3IP1 C9orf72 PRNP YEATS2 AP2M1 PSAP MARCHF6 TRAPPC9 NF1 CASK RRM2B SYT1 HRAS FARS2 PIGO MTMR2 MYO9A SCN1A TFG EEF1A2 NGLY1 TRIT1 TIMM8A EBP DHH OCA2 MYH14 ARFGEF2 DPM1 DHDDS IQSEC1 JRK ARV1 PIGW PCK1 ABHD12 STRADA NEXMIF SUCLA2 BSCL2 LONP1 ZNHIT3 MT-ND1 HIBCH NDRG1 LITAF LARGE1 PRPS1 NTNG1 NECAP1 CPLX1 PEX2 OCRL UPB1 RBPJ SETBP1 FRRS1L SLC25A22 MT-CO1 LSS DCAF8 ALG2 NACC1 CLTCL1 SACS CRADD CLCN2 CHD2 CHMP2B SQSTM1 PCDH19 PAX6 CTNNA2 TRPV4 TRAPPC11 PHF6 ARHGAP31 SNAP25 FBN1 CREBBP PLAA PEX19 WDR4 CYP27A1 CNTNAP2 GRIK2 PEX1 CCDC47 CPLANE1 KCNA2 PURA AGRN SNIP1 ERCC1 OTOF SH3TC2 UBTF SBF2 POMT2 IQSEC2 MED17 COL13A1 LETM1 SMC1A CACNA1E APOL2 ASL SLC39A8 LAMC3 FGD4 TLR3 RETREG1 MT-CO3 PGAP1 PHGDH TRAF3 GNAO1 TP53RK KCNAB2 DMXL2 ANTXR1 AHSG GARS1 TUBB2A LMAN2L HSD17B4 ST3GAL5 SPG21 MAPK10 NDUFAF8 PPT1 CLN5 ADGRV1 CPT1C GABBR2 UBA5 OSGEP ADGRG1 DPM2 POMGNT1 CNKSR2 ATP6V1A GMPPB TECR ADARB1 MT-ND4 PARS2 KPTN PIGT SEMA6B PIGC GJB1 B3GALNT2 AFG3L2 UNC93B1 MFSD8 FOXG1 KDM6A SH2B1 DAG1 FLII AP3D1 NUP133 SYN2 TBCK PRSS12 NDUFA9 AARS2 CLTC FMN2 NRXN1 RTN4R FKRP ARHGEF10 MYH3 SNAP29 ALDH5A1 TRAPPC12 SKI TUBGCP2 SLC5A7 XPA PIGV DIAPH3 ATXN1 GAD1 PIGL HTR2A ALDH7A1 PLEKHG5 MT-TH AIMP2 MAPT ACOX1 RTTN VAMP2 NTRK1 ARG1 MTHFR MAP1B MAP2K2 KCTD7 EDNRB DLL4 PEX12 NLGN3 WNK1 FBLN5 HNMT BRAF EXOC8 CNTN2 EMC1 CACNA1H DALRD3 MFF TUSC3 RAB7A SLC1A4 SAMD9L TNIK EZR AP3B2 DEGS1 CCDC88A LINS1 PNPO APOL4 EIF2S3 IARS2 CTNND2 CTBP1 MCOLN1 FGFRL1 DOCK6 LAGE3 WWOX DOLK CACNA1B LRSAM1 MYD88 DHX16 SPTLC1 PI4KA CSTB NUP107 MT-CO2 HIC1 HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS EPM2A SEMA6B SAMD12 STARD7 MARCHF6 NHLRC1 HP_REDUCED_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_TENDON_REFLEXES LYST GRIA3 TRAK1 SCN9A ACER3 TMEM240 PEX5 CHRND GCSH AIFM1 SETX RMRP QRICH1 MAG TINF2 SHANK3 PEX12 SLC1A2 PMP22 XPC DDB2 PEX6 SOX10 VCP MAGEL2 ARSA ALG6 PDHB MYL1 SBF1 XRCC1 NEB B4GALNT1 MYF6 NEFL NEFH VPS13A GARS1 SYT2 MT-ATP8 MT-TV PDXK SPEG SURF1 B3GALNT2 RUBCN MSTO1 FDX2 GABRA2 FXN DEAF1 PRX ITGA7 TSPYL1 TWNK PEX26 DNAJB2 DNM2 GABRA3 GNE MRE11 REEP1 DYNC1H1 PDK3 ERCC5 EGR2 SYNE1 GAA POLG2 ADSS1 HARS1 PNKP DNASE1L3 CHAT NFASC CHRNE COG7 NDUFA1 CACNA1A ATP1A3 NARS2 PAX7 CFL2 CARS2 ACTA1 GALC YWHAG SLC18A3 MUSK PIGG VAMP1 GRIN2A PIEZO2 RRM2B POMK GDAP1 HSPG2 TTN PGAP2 TRPV4 MPZ KCNB1 POMT1 RYR1 RFC1 C12orf65 MED25 MCM3AP AARS1 FHL1 TECPR2 PEX11B UGDH GRIN2D SLC25A1 PEX10 DHH LAMA2 MT-ND2 HK1 TUBA8 BICD2 RTEL1 PEX2 IGHMBP2 FLVCR1 FASTKD2 CACNA1S ERCC2 BIN1 BEAN1 MPV17 TARDBP GTF2H5 NUS1 KLC2 XK MYL2 LRP12 LGI4 SLC25A4 PNPLA2 DOCK3 ACADM TAF1 MME POMGNT1 LAMB2 DES FIG4 HSD17B4 WDR81 MT-ND5 GEMIN4 GJB6 LIFR GABRA5 MYPN DAG1 OCRL HNRNPK TPM2 TBCK TRMU ERCC4 SYNJ1 LRP4 PHYH MORC2 MFN2 FKTN NDUFS4 DNM1L ATP6AP2 PGAP3 RNF113A NTRK2 ERCC6 PODXL ACO2 DNAJC3 MTMR14 SELENON KIF1A TPM3 GABRB2 RAI1 AR PGM3 TBC1D24 KCND3 SZT2 LDB3 OTOG STXBP1 DARS2 PRPS1 NRAS DMD JPH1 SLC25A46 CRPPA SIGMAR1 DST FBXO38 C19orf12 PNPLA6 PMM2 PLEC DYSF LMNA MYOT POLG TK2 FLI1 APOB HCN1 CDK19 VAPB SMN1 SCN4A PLP1 SNAP29 HSPB1 MT-ND6 HSPB3 FLNC STIM1 MT-TL1 MT-ATP6 RNF170 NOTCH2NLC KLHL9 CD59 SUCLG1 PTRH2 KCNK9 GLDC INPP5K GOSR2 PLA2G6 ATP1A1 ATN1 ATL3 HSPB8 FXR1 COASY CLCNKB COL12A1 ERCC3 BAG3 STX16 PIK3R5 PLEKHG5 ENTPD1 COX6A1 SPG11 FBN1 ACOX1 GAN PNPT1 KBTBD13 HACD1 PIGY RAPSN PEX16 LARGE1 COLQ PMPCA TPI1 TARS1 KIF1B MARS1 PPP2R5D TBCD SLC13A5 CYFIP2 COX8A PSAP APTX PITX3 STAC3 HRAS PDSS1 PIGO MYO9A GJB1 TBK1 EEF1A2 NGLY1 KLHL41 COA7 RMND1 POMGNT2 MYH14 MT-TE ADCY6 PLOD1 DKC1 DHDDS ARV1 PIGW SQSTM1 ATXN10 ABHD12 TRIP4 ERLIN1 SUCLA2 SCYL2 GABRG2 WWOX TTPA CPT1A ALDH18A1 FUS GMPPB NDRG1 LITAF MAP3K20 NECAP1 PSMB8 GBA SMPD1 SCN8A IFRD1 ATXN3 FKRP MYH7 TDP1 RETREG1 AGRN GNAS SLC35A1 DCAF8 SACS CHRNA1 SNX14 MT-ND1 ARHGEF2 PEX13 SNAP25 HADHB HINT1 POMT2 SLC5A7 CNTNAP2 MTM1 MPLKIP SCN3A KCNJ18 SEPTIN9 KCNA2 SNIP1 RNASEH1 NARS1 TRAPPC11 PEX3 ATXN2 FKBP10 CLCNKA MT-TK CHRNB1 FUZ PEX14 SBF2 PIGB CNTNAP1 ARL6IP1 IBA57 COL13A1 GBE1 COL4A1 FGD4 TTR CHCHD10 ACD FMR1 ABCA1 ST3GAL5 MT-TW TYMP ERCC8 DPM3 ASAH1 PRKCG UBA5 NAGLU XPA TBC1D23 OPA3 CRYAB SLC25A21 DOK7 CNKSR2 TGFB3 SLC12A6 PEX1 ELOVL4 ACTL6B GJB2 DNM1 CNTN1 ORAI1 EXOSC9 PRNP PPOX SCYL1 MT-ND4 HNRNPDL TMEM43 KIAA0586 MTPAP ALG2 EXTL3 FLII PARN ELP1 VPS33A RXYLT1 LPIN1 GTF2E2 AMT TRIM32 TERT MEGF10 FLRT1 AMPD1 ZSWIM6 TRMT5 PLEKHG4 ARSI MGME1 NDUFA9 SPTBN4 GFPT1 CLTC PIGN SNRPN NRXN1 TRIM37 ASCC1 GNB4 SIM1 BSND DKK1 MT-TT SYNGAP1 ALDH5A1 ATP7A ATP6V1A GLE1 LMOD3 EMD PIGV SAR1B ABHD5 ATXN1 PIGL TFG SYNE2 IQSEC2 SCO2 WARS1 INF2 DNMT1 SMN2 HADHA ALG1 ACAT1 AK9 VANGL1 ATM DNAJC6 SIL1 WNK1 FGF12 KARS1 TRIM2 UBA1 FBLN5 EMC1 HDAC4 PEX19 PYROXD1 JAG1 CDK5 MDH2 DBH DALRD3 GFER RAB7A DGUOK PPP3CA AP3B2 ALG14 TCAP KY SLC52A2 DPAGT1 SLC25A19 IARS2 HMGCL PEX7 CACNA1B LRSAM1 OPA1 DHX16 PTF1A SPTLC1 PARS2 KRAS C9orf72 MT-ND3 MTTP ZC4H2 B4GAT1 ERCC1 HP_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOTONIA ACTA1 CCDC174 PDHX TUFM LYRM4 FOXG1 COL6A1 ALG11 SCN4A SHANK3 SUMF1 NADK2 DLK1 FLNA PEX12 ATXN7 ACOX1 SPATA5 VPS53 HNF1A POMK HNF4A CHRNE KANSL1 PAFAH1B1 SOX10 NTNG1 NALCN B3GALT6 MAGEL2 OCRL UPB1 NSD1 COL6A3 NEXMIF MEGF10 PLCB3 NKX6-2 FXR1 POMT1 AP4B1 ARID1B PURA PRPS1 TBCK MTHFR GLYCTK GATAD2B COL6A2 DST BPTF RYR1 CRPPA TNNT1 EEF1A2 PGAP1 TBR1 PIK3CD SNRPN TIMM22 MAG UNC80 PEX16 GLS MED12 CHRND SELENON SIM1 CHRNB1 PEX6 MT-TT HERC2 TPM2 RAPSN EGR2 PEX1 PTRH2 GOT2 SYNE1 LMOD3 PWAR1 VAC14 COL12A1 CLPB FKRP CFL2 ZNF469 PEX26 SUCLG1 GABRA2 ODC1 KCNK9 PEX3 NEB TUBA8 NPAP1 CAMTA1 SNORD116-1 ITGA7 UQCC2 VPS13B SH2B1 PIEZO2 USP7 GNPTAB EARS2 BRAF NFIX CHKB PRDM5 SLC6A8 MECP2 MKRN3 HADH SNORD115-1 MEG3 PYROXD1 MADD PDE4D RTL1 MUSK MYH7 MRPS16 NDN PEX10 TBC1D24 PDSS2 FIG4 PSMD12 TPM3 DLAT WAC PEX2 GRIA4 VMA21 SLC16A2 CCDC88A BIN1 CHRNA1 FGFR1 HSD17B4 PPP2R5D CASK DMPK TMEM260 TAF6 ATP2B3 ERCC6L2 KAT6A AP4M1 NONO BCS1L IER3IP1 PWRN1 GATA6 GABBR2 COG4 ADNP CPT2 SYT1 FKTN TGFB3 COQ4 SLC12A6 CDKL5 DNAJC19 SPOP H1-4 KLHL41 LAMA2 SDHA STXBP1 AP4E1 KNSTRN PCLO ARX MT-TE CNTN1 TSFM PLOD1 TMCO1 PDP1 HP_CEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HYPOPLASIA WDR35 FKTN CACNA1G FKRP GLI3 SMPD4 C2CD3 ADGRG1 KIAA1109 TP53RK TINF2 MKS1 CEP120 FGFR1 GMPPB TRMT10A USP9X BICD2 DOCK6 SASS6 ATCAY POMK PARN TSEN15 TUBGCP6 MLXIPL LARGE1 DMXL2 TKFC MAPK8IP3 RXYLT1 TERT FGFR2 PIEZO2 KIF14 RPL10 RAC1 SEPSECS OCLN ABAT GPX4 TSEN54 POMT2 POMGNT2 DHFR USP18 KIAA0586 ERF CCDC22 SLC25A19 TMEM107 ARSI EOMES MGME1 POMT1 CRPPA B3GALNT2 MSTO1 PHGDH BRF1 CENPE PMM2 EPG5 PGAP1 JAM3 L1CAM ACD WNT1 PAFAH1B1 CTNNA2 MAN1B1 CEP55 GFM2 ERCC6 TCTN2 TSEN2 APC2 DYNC2H1 ITPR1 ATG5 SON DYNC1H1 MUSK RBBP8 PPP1R15B FRMD4A DYNC2I2 MYO5A PTRH2 GPAA1 SMARCB1 RELN VAC14 CASK POLA1 OPHN1 PTF1A MBTPS2 MAST1 DHX37 ERCC1 TSEN34 COASY YME1L1 INPP5K CARS2 CAMTA1 TUBB3 POMGNT1 MARS2 MAB21L1 STAT2 VPS13B VLDLR STAG2 PIGG TAPT1 PDHB PACS1 LAMB1 PI4KA SIL1 TUBB2B SLC35A2 DISC1 SLC1A3 PIGA CHMP1A CEP104 RHOBTB2 GPHN FLNA NFIX COL4A1 STUB1 COL3A1 ASPM CDK5 NDE1 BUB1B RBM10 ERMARD HDAC6 FIG4 TOE1 ZEB2 VRK1 MAP2K2 AHCY HERC1 RTEL1 B4GAT1 SNX14 POLR3A ROBO3 CSF1R PMPCA PLP1 EHMT1 ATP5F1A CENPF NONO DYNC2I1 TWIST1 ATP6V1A OXR1 ATP2B3 ATAD3A RAB3GAP1 NDUFA6 MFSD2A TERC CDC42 SLC25A1 SLC25A24 IER3IP1 TAF1 MACF1 RARS2 TUBB PLG KMT2C ASNS WDR26 ELN SMARCE1 DPM2 WDR81 GJB6 CSPP1 PPP2R1A BMP4 COQ4 RNF113A FLVCR2 IFT80 DAG1 EXOC7 SIX3 CIT GPSM2 WAC RTTN TBCK ATP6V1E1 ATP6V0A2 INTS8 ATXN2 PIGT GJB2 PIGU ROGDI CWF19L1 PCLO DKC1 RORA PSAT1 TRAPPC9 ZBTB11 RBM8A AFG3L2 HP_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_WEAKNESS LYST NOD2 GRIA3 NDUFS4 CCDC174 ANOS1 TRAK1 FKRP VCP C11orf95 PPARGC1A CHRND TNFRSF11B COL6A1 SCNN1G SETX DMD LYRM7 KIF5A HNRNPA1 GYG1 BCS1L GDI1 ATXN7 SLC1A2 NFU1 NDUFV1 BICD2 BTNL2 KCNA1 PROKR2 SCN4A RTN2 GPI PHACTR1 PIGQ SOX10 IL17RD SMARCB1 SIK1 TOP3A ARSA MT-TK ARHGEF6 MYL1 ANO5 SBF1 GBA2 XRCC1 SPART MT-TE PMPCB NEB GSN POMT1 DSE PEX10 MYF6 LMNA NEFL NEFH VPS13A GARS1 SYT2 TMEM43 MT-TV TBL1XR1 TANGO2 SPEG PIGP B3GALNT2 PHKA2 MSTO1 FDX2 BRCC3 MT-ND5 POLG2 GABRA2 FXN TTN KRT14 PRX ITGA7 AMPD3 TWNK DNAJB2 GABRA3 ADPRS GFM2 ZFYVE27 RARA GALC SOS1 UPF3B TIMM50 CHAT HESX1 GNE ABCC8 REEP1 SLC34A1 COL6A3 MT-ND6 LAMP2 SALL4 RAPSN PMPCA IQSEC2 EGR2 YARS1 SDHA EYA1 ABCA2 POMGNT1 SYNE1 GAA CASQ1 FGF8 NDUFA1 NUP62 HINT1 DOK7 ADSS1 ERCC8 NBN SLC22A5 HARS1 ASPA PNKP AKT1 FIG4 HLA-DRB1 CLCN7 SGCA SCN1B MT-TL1 UQCRFS1 DYSF AIFM1 NDUFS2 CHRNE POLG CACNA1A ATP1A3 C12orf65 CCNF NARS2 ABCB6 PAX7 IRAK1 CFL2 CPT2 SIL1 ATP13A2 ACTA1 CEP126 FKTN PON2 MT-ATP6 YWHAG DMPK GFPT1 SLC18A3 COX10 ACTN2 MYBPC1 NKX2-5 MUSK VAMP1 GRIN2A PEX12 MLX TARDBP PIEZO2 NDUFAF1 DCC POMT2 POMK SELENON GDAP1 PDE8B HSPG2 GNAO1 NABP1 PMP22 OPTN SCNN1A SEMA3A TRPV4 CDC73 MPZ LRP5 KCNB1 TUBB3 FGF23 DCTN1 MTHFR RYR1 RFC1 MECP2 ACADS MT-TF C9orf72 MYH7 PEX7 PDE11A GMPPB GNA11 SMCHD1 MCM3AP AARS1 FHL1 PEX11B PRKAR1A GRIN2D SLC25A1 NTNG2 LAMA2 PUS1 MT-ND2 HK1 COL13A1 ABCD1 CYP11B2 PFKM WDR11 EXOSC3 LARGE1 CYP7B1 NF1 CNKSR2 IGHMBP2 ACBD5 FLVCR1 CACNA1S SLC34A3 BIN1 EXT2 D2HGDH CHRNA1 LTBP4 ALDH18A1 NONO MPV17 SLC25A20 NUS1 UBE3B SNX10 HMBS XK EXOSC8 MYL2 LRP12 SIX1 NF2 GATM LGI4 SLC25A24 SLC25A4 PNPLA2 DNA2 ATP7A NDUFB8 ANK1 ACADM LRP4 MME FA2H LAMB2 FRMPD4 GJA1 FOXC2 CAPN3 SLC4A1 DES DNAJB6 CHCHD10 RRAS GEMIN4 VDR DYNC1H1 MT-TW RIT1 GABRA5 MYPN SRPX2 DAG1 IREB2 MRPL12 MTAP SGCD HNRNPK PCNA TPM2 AMPD1 TRMU COG8 CCN6 ANKH GNB5 FTSJ1 SQSTM1 GCK HCFC1 NAGA DLL4 PHYH STIM1 MICU1 TPI1 COA8 MORC2 KISS1R SLC12A3 MT-TP HLA-DQB1 NDUFA11 NUTM2B-AS1 CACNA1G SURF1 CPOX PEX5 NTRK2 PTDSS1 COX4I1 RRAS2 CAVIN1 TIMMDC1 FGF17 MTMR14 SPTA1 CASR NDUFS6 STAT3 FLAD1 CYP27B1 TNNT1 AMER1 TPM3 TK2 GABRB2 TUBB6 PAFAH1B1 RAI1 FEZF1 FUS TIA1 AR PLP1 TNXB CPT1C ALG13 HAMP SLC5A7 SORD ETFB EPHA4 SZT2 LDB3 ALG2 ORAI1 PYGM DNM2 STXBP1 DARS2 PRPS1 TGFB1 JPH1 MRPS25 SLC25A46 PTS CRPPA MT-TS2 CCDC78 SEMA3E PEX14 SIGMAR1 PDCD1 XYLT2 MAP2K2 FBXO38 RBCK1 NDUFA10 TYMP LIPE C19orf12 PMM2 PLEC ADA2 KCNE3 ERLIN2 HADHB MYOT TFG COL6A2 PRPH GCH1 SPG21 FLI1 PDGFB FAM126A NEK1 HCN1 CDK19 TMEM126B NDUFAF6 LBR USP9X AP5Z1 VAPB PON3 PTRH2 PET100 SMN1 ATP1A2 PHKB SNAP29 HSPB1 HSPB3 FLNC ABHD5 BOLA3 COL9A1 KRT5 CCR6 NDUFS3 NOTCH2NLC NEUROD2 STAT4 DAO KLHL9 CD59 SUCLG1 KCNK9 SGCB HS6ST1 INPP5K CBL PLA2G6 ATP1A1 NDUFV2 HSPB8 FXR1 MFN2 SMO SLC7A7 ETFA PEX6 COL12A1 PNPLA6 L1CAM CRLF1 BAG3 SYNE2 ZNF81 SDHD HSD17B10 NDP MAP3K20 CHKB PDK3 PIK3R5 PLEKHG5 DNAJC19 TBCD ALS2 HADHA DSTYK COX6A1 COLQ SARDH TRIM8 SPG11 PLAA ACOX1 FXYD2 MYMK NDUFS1 NDUFS8 MIEF2 TOE1 GAN BSCL2 PRRT2 SOST MT-TQ ZC4H2 SGCG KBTBD13 HACD1 SPAST VMA21 PFN1 GLE1 NEU1 TFAP2A MATR3 CNNM2 SLC52A3 CLCN4 KIF1B MARS1 NDUFB9 SLC13A5 PLXND1 NDUFAF4 CAV3 MT-TN PTCHD1 ISCU NDUFS7 CHD7 PRNP SLC39A14 CYFIP2 PSAP NUMA1 HSPD1 APTX CASK KLHL40 ATXN2 RRM2B CFAP410 STAC3 CHP1 ZFYVE26 PABPN1 MTMR2 MYO9A GJB1 FIP1L1 ARX PUF60 TBK1 WARS2 PON1 EEF1A2 CAPN1 PEX13 KLHL41 PROK2 VHL COA7 BVES KIF1A DHH GIPC1 COL1A1 POMGNT2 ACADVL TRDN FBN1 FKBP14 PCLO MYH14 SARS1 PEX2 ADCY6 IRF2BP2 FARS2 PLOD1 ANG DHDDS ARV1 TRIP4 COX6A2 PEX19 SMARCE1 GABRG2 SEPTIN9 KCNJ1 TTPA STAT5B EPB42 TRMT10A KY ATL1 NDUFA13 MT-ND1 NDRG1 LITAF TNPO3 SLC33A1 PRKACA NECAP1 DGUOK CYP2R1 SPG7 PSMB8 PTPN22 PEX1 SMPD1 TRPM7 CLCF1 GTPBP2 SPARC SCN8A PML PTEN IFRD1 COL9A2 HFE TGM6 COL9A3 NDUFB10 AFG3L2 DHFR BCOR TDP1 CLCNKB MT-CO1 AGRN IL12B LIMS2 DCAF8 MEN1 SACS TBCE SOS2 ALAD RELA EGF SLC25A22 NGLY1 TRAPPC11 NDUFAF2 INPP5E SNAP25 PPP1R15B CHRNB1 KCNJ5 SDHAF1 UFC1 UBQLN2 PHKG2 SFRP4 OAT SHMT2 MT-ND3 SLC18A2 COQ8A CYP27A1 MTM1 NDUFAF3 ACY1 SCN3A KCNJ18 CPLANE1 SPR KCNA2 RNASEH1 TSHR YME1L1 COL5A1 MRAS NDUFA6 DDHD1 COQ7 SH3TC2 CDKL5 NACC1 TREX1 SBF2 TRAF7 ASAH1 PGK1 CNTNAP1 SPTB COQ2 IBA57 SLC2A3 PAK3 FOXRED1 OPA1 IFIH1 POLR3A AAAS GBE1 POGLUT1 COL4A1 TREM2 MT-TL2 SLC39A8 PNPT1 ETFDH FGD4 PIGA MT-CO3 AGTR2 NOP56 VRK1 HOXB1 AHCY SCN2A SLC5A6 TTR GJC2 SUFU KRAS DMXL2 WASHC5 YARS2 NUBPL FMR1 COX20 ABCA1 NSMF SYNJ1 ATXN3 ZNF41 COL1A2 SLC12A1 CHMP2B TCIRG1 DPM3 SLC25A26 SLC9A7 FOXE1 UBA5 PAX8 FGFR1 KCNJ11 ADGRG1 DPM2 RALGAPA1 TACR3 CXorf56 CRYAB SLC25A21 ERBB4 SLC12A6 CCN2 FAM111B ACAD9 NDNF B4GALNT1 MT-ND4 ATP7B SDHB ACTL6B HJV ELOVL5 DNM1 EHHADH CNTN1 TSFM EXOSC9 MED25 PPOX TMEM165 NPM1 RPS6KA3 DPAGT1 HNRNPDL ZBTB16 MAPT SPP1 REV3L TRIM32 NKX2-1 NRAS RASA2 EXTL3 ITGB4 COL5A2 UNC13A SOD1 CCND1 BTD AP3D1 GLT8D1 RXYLT1 EXT1 LPIN1 HEXB PNKD MEGF10 CAV1 GM2A TRMT5 CNBP TBCK PNPLA8 MGME1 BAP1 DLG3 POPDC3 AARS2 LMOD3 SPTBN4 SIX5 CLTC ERCC6 ADAR A2ML1 ASCC1 MYH3 RAF1 KCNJ10 GABBR2 PIGN CLP1 DKK1 MYH2 PEX26 SYNGAP1 POU3F4 TMEM63A ATP6V1A EMD ELP2 NDUFAF5 PGM1 MED12 SCO2 MT-TH NDUFB11 NDUFB3 INF2 ACSL4 SMN2 TAF15 AGL SCYL1 CHST14 CCDC141 AK9 PHKA1 COX6B1 TERT SCNN1B RASA1 FGF12 KARS1 TRIM2 UBA1 FBLN5 PREPL GPHN TRH GNAS PYROXD1 IDS SYP SCN11A SLC26A4 DDHD2 EXOC8 MID2 MDH2 CYP11B1 DALRD3 PTPN11 ALG14 SKI CLCN1 MT-TI ATP5F1D RAB7A ZNF711 SCN1A PPP3CA SUCLA2 SPTLC2 AP3B2 TTC19 PEX16 TCN2 VPS13D ANXA11 TCAP RARS1 MFF FRG1 HTT SLC52A2 ARMC5 SLC25A19 ALAS2 TSPAN7 RAB39B ATXN1 PEX3 RARS2 WWOX AGK RANBP2 CACNA1B USP27X LRSAM1 BMS1 IRF5 HEXA HLA-B FLRT3 HNRNPA2B1 DUSP6 SPRY4 DHX16 LZTR1 SPTLC1 PARS2 NDUFAF8 PI4KA TOR1AIP1 IL1RAPL1 MTTP PIK3CA AP2S1 NIPA1 EBF3 B4GAT1 TP53 MT-CO2 SVIL HP_HYPOGLYCEMIC_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_COMA ETFA AKT2 MRAP ETFDH INSR TXNRD2 HMGCL ABCC8 HADH ETFB GLUD1 NFKB2 MC2R NNT GCK STAR HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES GABRG2 SAMD12 TBC1D24 GRIN2A STARD7 SRPX2 HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE SCN1B GABRA1 SCN1A STXBP1 SCN2A GABRG2 PCDH19 KCTD7 SCN9A HP_SPECIFIC_LEARNING_DISABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPECIFIC_LEARNING_DISABILITY SPG11 FKTN GCLC NODAL SMPD1 VCP SBDS APC SQSTM1 SYN1 TCF4 CHSY1 VEGFC ATP7A PTDSS1 SLC25A15 DLL1 TBX1 PRMT7 DGCR6 TP63 WNT5A ALMS1 FARSB EXTL3 DNAL4 HAL DISP1 ABCD1 FLT4 PTCH1 UFD1 FUS MT-ND1 MLXIPL LARGE1 TGIF1 ARX SIX3 TREM2 RXYLT1 TERT GABRG2 MAGEL2 DIS3L2 LEMD3 DCC SEC24C SNRPN FOXP2 SPART YY1AP1 KIFBP TMEM106B POMT2 ESS2 RREB1 THOC6 NTN1 DNAJC21 PDE4D NDN MT-CO1 DARS2 MTHFR GRIN2A PSEN1 MYCN HIRA PRRT2 FIBP POMT1 NF1 AFF2 CRPPA MT-TS2 CLTCL1 B3GALNT2 GRN SMC1A BPTF MAP2K2 GABRA1 ORC4 TSC1 SHH MAN2B1 CHMP2B DGCR8 RBMX MT-ND5 JRK FGF8 GLI2 AUTS2 SRPX2 TWNK SLC2A1 FOXH1 GP1BB TBK1 CHCHD10 CDC6 STAG2 SIM1 SOX2 HERC2 MT-ND6 DMD PMPCA MYO5A DVL3 HINT1 TMEM63A SLC2A10 HDAC8 CDON KCNA1 PWAR1 TRIO TUBB4A GABRB3 RNU4ATAC ASPA SETD2 GRIA3 MBTPS2 GAS1 MT-TL1 GJC2 MAPT SMARCA2 SMAD4 DVL1 CDT1 TINF2 CKAP2L MT-TH NOTCH3 ARL6 NTRK1 FZD2 NPAP1 INPP5K JMJD1C FGFR1 MAP1B PRNP SNORD116-1 ZIC2 GMNN TDGF1 POMK IGF2 SIL1 TUBB2B COQ2 SIX6 SLC2A3 WIPF1 SPRED1 COMT WAS TUBB3 GNPTAB H19 HMGA2 TSC2 MKRN3 KCNC3 GLUD1 SNORD115-1 EHMT1 SARDH MT-TF BBS1 C9orf72 KLF13 COL4A1 JAG1 CACNA1A CACNA1H IFNG CHRNA7 ACTG1 LAS1L MT-CO3 APC2 PSMD12 NECTIN1 PRKAR1B CCDC28B SRP54 MT-TQ SC5D IRF6 ACTB WDR1 PIEZO2 OCA2 ORC6 KIF11 PIGH HNRNPA1 DGCR2 LTBP4 SRY ALDH18A1 BLM TCTN3 HTT TARDBP UBE3B LYST AMER1 DMPK DNAAF4 PNKP COX7B MED13L SPG7 TERC RNF168 RAD51 ARVCF NDUFB11 MSX1 PWRN1 PLA2G6 RDH11 NSD1 KCNJ2 POMGNT1 ELN ADGRG1 ZFYVE26 OPA3 PRKAR1A GALT MTOR CDC45 KAT6B PIK3C2A HNRNPA2B1 MT-TW DAG1 FKRP MICU1 PI4KA MT-ND4 ORC1 HCCS POMGNT2 B4GAT1 STIM1 MT-CO2 MORC2 HP_ABSENT_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SEPTUM_PELLUCIDUM DCPS NSUN2 IQSEC1 FKTN HCCS PROP1 STAG2 POMK PTDSS1 HESX1 FGFR1 MBOAT7 CC2D1A KIF7 LHX4 PROKR2 PIGA FANCI C12orf4 LETM1 CLIP1 ARNT2 HNMT HYLS1 LARGE1 POU1F1 EHMT1 COL4A1 RXYLT1 NDST1 MED25 CPLX1 MED23 B3GALNT2 ROBO1 KRAS COX7B TUSC3 PGAP1 CRBN NSD2 L1CAM NDUFB11 MAN1B1 TNIK RSPO2 EZR FRRS1L PIEZO2 KIAA0586 EDC3 PRSS12 POMT1 LINS1 CRPPA CRADD LMAN2L EZH2 PHGDH WDR11 FGFR2 FMN2 GPR161 AIMP1 WNT3 SOX3 WASHC4 SLC45A1 CTBP1 ST3GAL3 DYNC1I2 FGFRL1 MUSK POMGNT1 LHX3 TRAPPC9 SSR4 POMT2 RSRC1 CDON CSPP1 FBXO31 GRIK2 SARS1 FOXA2 OTX2 METTL23 MBTPS2 DAG1 FKRP TECR GLI2 SOX2 POMGNT2 KDM5B DHCR24 PIGC PPP1R12A B4GAT1 ZC3H14 PSAT1 CSGALNACT1 HP_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTONIA DCPS IQSEC1 RNASEH2B NDUFA4 NODAL PDHX VPS13C IFIH1 SLC2A1 VCP NDUFA13 HTT ACER3 MCOLN1 PPP2R2B YY1 FBLN1 AP4M1 UCHL1 COL6A1 SETX LONP1 PDGFRB FGFR3 KCNQ2 NADK2 SGCE TTPA ACOX1 NDUFS7 ATP7B C12orf4 SPATA5 SAMHD1 DISP1 KCNA1 GRIN1 ALDH18A1 ATP13A2 MAPT TSEN15 HIBCH DMXL2 GLB1 SIX3 CYB5A PIGQ ZMYND11 NTNG1 B3GALT6 SIK1 NDUFA12 NPC2 COL12A1 PINK1 ARSA UPB1 HPRT1 SEPSECS TAOK1 ATXN2 PET100 GTPBP2 PMPCB MYT1L B4GALNT1 DNAJC12 ATXN3 TGM6 ADH1C MT-ND2 AFG3L2 WARS2 FRRS1L UBQLN2 TAF1 GNAS VPS13A ASH1L PRRT2 MT-TV TANGO2 SPR SURF1 SCP2 CRADD MYORG SLC20A2 SMC1A CEP85L PDHA1 ADCY5 SHH NDUFS8 DEAF1 QDPR CHRNA2 FXN WASHC4 ACTB MT-ND1 SLC45A1 GFM2 MYF5 FTL GRIN2B SLC25A22 TBC1D24 TPK1 NGLY1 MTO1 TRAPPC11 BRSK2 PSAP LIPT1 MRE11 TXN2 THAP1 COL6A3 NKX2-1 SCN2A CYP2U1 ECHS1 CARS1 PSEN1 SYNE1 HINT1 FITM2 CDON PLAA NUP62 FBXO31 SLC18A2 VAMP1 PTCH1 CYP27A1 GRIK2 DLL1 MT-ATP6 SARS1 NHLRC2 KCTD17 GAS1 IRF2BPL MT-ND4 CPLX1 GRIN2A SCN1B SLC39A14 SIGMAR1 FOXG1 DCAF17 CDH15 NDUFS2 CKAP2L MT-CO3 ACSF3 ATP1A3 TSEN34 SLC44A1 GAMT PANK2 DALRD3 RNASEH2C TACO1 KIF1A LRRK2 CARS2 DOCK8 HPDL NDUFA9 UBTF MT-TK CDKL5 ZC3H14 NDUFV1 GBA DRD5 MARS2 ZIC2 RAB11A RAB11B MED12L STXBP1 NSUN2 TREX1 KDM5B TDGF1 KIF1C PCDH12 SLC6A8 EPRS1 POLR1C TBP HSPG2 CNTNAP1 GNAO1 FGFR2 NR4A2 TGIF1 SLC2A3 CACNA1A NAXD CLTC COL4A1 UFM1 FOXRED1 MECP2 RHOBTB2 CACNA1E FA2H ALS2 WDR73 SLC30A10 OFD1 JAM2 HIVEP2 MED25 UBA5 GNA11 SLC39A8 AUH NDUFAF3 PNPT1 PPP3CA DYNC1H1 NAA10 SERAC1 UGDH TRPM3 GABRB2 PTS C9orf72 GNAL BSCL2 PGAP1 GCH1 NDUFAF6 DNAJC6 DLAT MAN1B1 ATP1A2 AP4S1 COLEC11 EDC3 GJC2 FGF8 STARD7 SYNJ1 AP4B1 TOR1A SUOX AARS1 LMAN2L MPV17 DNM1L COX20 YIF1B ATXN8OS ANO3 NDUFV2 KCNQ5 CAMK2A MT-TW PNKP KAT6A KIRREL3 HTRA2 COQ8A HACE1 COL6A2 ST3GAL3 PLA2G6 SLC19A3 GABBR2 SLC9A6 NDUFB8 RNASEH2A PLEKHG2 NDUFAF4 EEF1A2 PARK7 ARV1 CHN1 SDHA SET ARX RSRC1 GLI2 RNASET2 MT-ND5 DLD GALT CIC NDUFAF2 PRKRA SPOP COQ2 NDUFAF5 FGFR1 IREB2 TGFB2 TECR MICU1 COQ9 PRKN SNCAIP PIGC NKX6-2 TSFM TSEN2 NDUFA2 KCNMA1 KMT2B CACNA1G SQSTM1 TUBB4A MAT1A VPS37A SLC6A3 PODXL MBOAT7 TRPV4 GCDH CASR VPS35 CTC1 TTBK2 CLIP1 DNAJC13 AP3D1 CP DDC POLR3A MBD5 NDUFA10 GLUD2 NDST1 CACNA1B FUS JPH3 MED23 PLP1 MRPS34 PNKD CRBN PDGFB NEK9 CSNK2B AP4E1 DRD2 GM2A CACNG2 SNCA PRSS12 PNPLA8 MRPS25 SLC30A9 MT-ND6 SYNGAP1 PCBD1 PRKCG C19orf12 CAMK2B ADAR FMN2 ECM1 LIPT2 MAFB FLI1 STAG2 FBXO7 TH MT-ND4L AGTPBP1 TRAPPC12 TSEN54 GLE1 SLC25A42 ATXN1 GAD1 MT-TL1 COASY ACTA1 METTL23 CNP POLR3B EIF4G1 DHX30 UQCRQ EPB41L1 NEUROD2 GDAP2 PURA NDUFS1 VAMP2 PCCA GRIA2 TUBB3 FOXH1 ATN1 STN1 VAC14 CYB5R3 EIF2AK2 MMUT ATM SCN8A EARS2 TWIST1 CC2D1A HSD17B10 MT-CYB ZNF142 STX16 EMC1 MECR PIGP KCNC3 HNMT TRIM8 MDH2 B3GALNT2 NDUFS3 TUSC3 MTFMT SUCLA2 CDK10 TNIK EZR FBXL4 TTC19 TMEM106B ACADS DEGS1 VPS13D LINS1 TPI1 SALL4 RARS1 COX15 GSX2 BCAP31 AARS2 PCGF2 AIMP1 TBCD ALDH6A1 MMADHC CIZ1 HPCA APTX TRAPPC9 CASK SYT1 SPG11 PIK3R5 TCOF1 WDR45 DNAJC19 GIGYF2 SNORD118 HK1 TRIT1 TIMM8A CUX1 CHMP2B POLR1D CHAMP1 NPC1 MT-ND3 NDUFS4 ZC4H2 PCCB SCN4A TCF4 FARS2 SCO2 DHDDS CWF19L1 HP_COMMUNICATING_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMUNICATING_HYDROCEPHALUS MAN2B1 CDCA7 GCDH SEC24D SLC2A1 TRNT1 SKI P4HB FBN1 TRIM71 HERC1 DNMT3B ZBTB24 HELLS MPDZ DNAI1 PTEN HP_BIMANUAL_SYNKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIMANUAL_SYNKINESIA DCC FLRT3 CCDC141 ANOS1 DUSP6 SPRY4 NTN1 GDF6 EP300 RAD51 SVBP NDNF PROK2 KNL1 CHD7 WDR11 SEMA3A SOX10 HESX1 FGF17 DNAL4 FGFR1 CEP152 PROKR2 HS6ST1 CREBBP CDH2 TACR3 FGF8 KISS1R IL17RD FEZF1 NSMF HP_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONUS JRK GRIA3 ARV1 PIGW TRAK1 GPHN GCSH SMARCE1 GABRG2 SGCE SLC1A2 KCNQ2 KCNA1 GRIN1 GLRB EPM2A MT-ND1 ATP13A2 MT-TF YEATS2 TOMM40 PIGQ ZMYND11 NTNG1 SCN8A NECAP1 SIK1 SLC25A10 TBC1D24 TAOK1 CACNB4 NEU1 MYT1L GABRD AFG3L2 DHFR SLC25A22 BRAT1 NTRK2 MT-CO1 GNAS ASH1L SMARCB1 CUX2 GABRA1 CLCN2 KCNC1 FRRS1L CHD2 DEAF1 MT-ND5 GABRA2 QDPR PLCB1 TSPYL1 PCDH19 ADCY5 TNRC6A GLRA1 NGLY1 BRSK2 PSAP SCARB2 INPP5E THAP1 PSEN1 MT-ND6 WDR45 TSEN54 NUP62 PSEN2 COQ8A GABRB3 CDKL5 CYP27A1 MT-TL1 AKT1 KIF1B KCTD17 CPLX1 SCN1B SCN3A FOXG1 MT-TK CLN8 CLN6 CDH15 NFASC KCNA2 PURA GRIK2 CACNA1A DNAJC5 POLG NOL3 SMS KIF1A ATXN2 CARS2 DOCK8 PRNP GALC MT-ATP6 YWHAG NOP56 RAB11A MED12L STXBP1 PRDM8 PTCD3 HMGCL KDM5B GRIN2A KIF1C TRAF7 ABCA7 RFT1 NHLRC1 TYROBP ASAH1 MOCS1 LMNB2 PGAP2 SLC2A3 KCNQ3 CLTC KCNB1 MECP2 CACNA1E HIVEP2 TAF1 PRRT2 GNA11 AARS1 PPP3CA DYNC1H1 TRPM3 GABRB2 ATN1 GRIN2D C9orf72 BSCL2 MT-CO3 HLA-DQB1 UBE3A SC5D SCN2A PGM3 GUF1 SUFU STARD7 DMXL2 GBA TOR1A SLC6A5 ATAD1 RORB SYNJ1 ST3GAL5 GNAO1 GRIN2B NUS1 KCNQ5 CAMK2A MAPK10 TPP1 KIRREL3 PPT1 NF2 CLN5 CSTB PLA2G6 GABBR2 RAPGEF2 SERPINI1 EEF1A2 CNPY3 PRKCG UBA5 TREM2 SET CNKSR2 SPTAN1 CLPB CIC GLRX5 EFHC1 COQ5 MT-TW GABRA5 SDHA ANO3 MT-ND4 ACTL6B COG8 KIF5A NAGA DNM1 SEMA6B PLPBP NDUFA4 MT-TP MRE11 SCN9A KMT2B MAPT PGAP3 GAMT PHACTR1 PODXL CTSF COX4I1 FTL MTPAP TXN2 AP2M1 CASR ABCD1 VPS53 DDC MBD5 ZNHIT3 MARCHF6 CACNA1B FOXRED1 HIBCH AMT LIAS SZT2 PNPO CSNK2B MOCS2 CILK1 DRD2 CACNG2 SNCA GLYCTK BAP1 SLC25A46 PTS SLC2A1 MT-TS2 PRICKLE1 TWNK SCN1A PNKP CAMK2B ADAR DENND5A NARS1 PDGFB PIGA PSAT1 HCN1 CDK19 FBXO7 TH SYNGAP1 AP5Z1 TRAPPC12 PET100 NDUFAF3 ATP6V1A PIGV CERS1 PIGL APP BOLA3 EPB41L1 NEUROD2 MT-TH GLDC GOSR2 ADSL KCTD7 SMO TERT EIF2AK2 ATM DNAJC6 DOCK7 FGF12 STX16 MECR PIGP KCNC3 DAB1 TRIM8 SAMD12 CNTN2 CACNA1H DALRD3 ARX SLC6A1 MT-TI TOE1 SLC1A4 MT-TQ NKX2-1 AP3B2 PIGY CCDC88A CLCN4 KCND3 VPS13D CLN3 NUP214 NDUFV1 HTT SLC13A5 ADRA2B CTNND2 CIZ1 TBP CYFIP2 WWOX CASK FARS2 PIGO PARS2 CUX1 CHMP2B CHAMP1 RMND1 SORL1 TMEM231 OCA2 PIK3CA STAMBP TCF4 RORA ST3GAL3 MT-CO2 POMGNT1 DHDDS HP_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR LYST RNASEH2B CLIP2 CD28 ARV1 VPS13C ANOS1 TRAK1 HTT ATXN10 ABHD12 PPP2R2B YY1 ARMC9 TMEM240 UCHL1 SETX QRICH1 PDGFRB GABRG2 MAG TTPA VCP SLC6A17 SLC1A2 ATP7B SAMHD1 KCNA1 PROKR2 ALDH18A1 THOC2 HNF1A ATP13A2 MAPT HIBCH B9D1 HNF4A YEATS2 PIGQ IL17RD NTNG1 DNMT1 NECAP1 SIK1 AKT1 PINK1 FRMPD4 CDH23 ATXN2 GBA2 GTPBP2 GTF2I SCN8A IFRD1 TGM6 KATNIP ADH1C MT-ND2 MECP2 MSTO1 SLC25A13 TAF1 NUS1 VPS13A MEN1 SPR SCP2 COQ2 SLC20A2 OFD1 ABCB7 ADCY5 SFXN4 ABCB4 KCNC1 TNNT1 DCTN1 PDE10A TBL2 GABRA2 QDPR FXN TMEM67 PCDH19 GSS MAN1B1 GABRA3 NOTCH2NLC ADPRS INPP5E GALC FTL SLC25A22 NGLY1 TRAPPC11 RAB3GAP2 SCARB2 HESX1 ITPR1 CTLA4 PDK3 UFC1 PMPCA MYO5A SACS GPAA1 FGF8 PMP22 POLG2 TRIO ERCC8 SLC5A7 SLC18A2 LIMK1 COQ8A MT-ND4 CYP27A1 MT-ATP6 MPLKIP TPP1 SLC25A11 COL6A3 SCN1B SLC39A14 SCN3A KCNJ18 SIGMAR1 CPLANE1 AIFM1 AHI1 NFASC KCNA2 GRIK2 MT-CO3 CACNA1A GABRD PANK2 ABCB6 RNASEH2C PCBD1 SPTBN2 LRRK2 SNX10 CEP126 CAMTA1 CEP104 CDKL5 NEMF YWHAG NOP56 GBA MT-ND6 ATXN7 IFIH1 MTFMT MYBPC1 GJC2 RPGRIP1L CCDC88C KIF1C EPRS1 DCC ASAH1 PGK1 CSPP1 SMN1 NR4A2 SEMA3A MPZ GRM1 TMEM216 KCNB1 RLIM HMGA2 POLR3A VHL ITM2B RFC1 ALS2 VWA3B SLC30A10 PRPS1 ITPA TWNK STXBP1 CTDP1 TCTN1 AARS1 DAB1 PTS GRIN2D SYNGAP1 C9orf72 PEX10 BSCL2 NTNG2 NDUFS2 GCH1 DNAJC6 UBE3A ABCB11 SCN2A WDR11 TTR TNFRSF1B POLR3B ACBD5 STARD7 DMXL2 OPA3 SYNJ1 SDHB CACNA1S ERCC2 AR FMR1 BEAN1 TAT NONO DNM1L NSMF GNAO1 GTF2H5 ANO3 TMEM237 TK2 MT-ND5 MAX MMAA DDOST HTRA2 CACNA1G CEP120 PTEN PLA2G6 ADGRV1 GABBR2 NSD1 XPNPEP3 MMACHC PARK7 PRKCG UBA5 FGFR1 TACR3 SDHC WDR81 PIBF1 DLST CNKSR2 ZFR GALT FGF14 ELN SLC12A6 PRKRA COQ5 TBC1D24 GABRA5 STUB1 SLC9A1 AMACR TENM4 MRPL12 GABRA1 MICU1 NDNF DPAGT1 PRKN SNCAIP ACTL6B MT-ND1 TCTN3 CTH LRPPRC KNSTRN GCK ELOVL5 DNM1 SEMA6B ATXN8OS GJB1 NKX6-2 TSFM PRNP TRAPPC6B MORC2 KISS1R MRE11 KIF1B SCN9A SCYL1 NUTM2B-AS1 ATP6AP2 WFS1 MARS1 SQSTM1 ERCC4 RNF113A NTRK2 ERCC6 PODXL CTSF MFN2 PPP1R15B NR1H4 TMEM70 FGF17 GCDH NIPA1 AP2M1 CARS2 VPS35 EPAS1 CTC1 TUBB4A DNAJC13 HCN1 TCIRG1 NAXE ATCAY REEP2 GABRB2 GLUD2 MARCHF6 FEZF1 LEMD3 PIK3CA FUS TNFSF11 KIF7 SAMD12 MAOA PLP1 GTF2E2 SDHAF2 FAM149B1 GTF2IRD1 FH SZT2 PDGFB POLR1C THG1L RFC2 DARS2 SNCA AFG3L2 PDE6D SLC25A46 PRICKLE1 OPA1 SDHD PNKP C19orf12 ANO10 ADAR PNPLA6 CLTC PIGN PIK3CD PDYN ADA2 SLC2A1 KIAA0753 NARS1 STX1B TSHR POLG SLC6A3 LMNB1 KCNJ10 FAM126A ERLIN2 TCTN2 CDK19 FBXO7 TH MT-ND4L ARL13B VAPB PNP TMEM63A CRAT ATP6V1A CA8 BRAT1 ATXN1 SDHA CEP41 TFG OPHN1 FLVCR1 SETD2 MTM1 UGT1A1 EIF4G1 PSAP NF1 NEUROD2 PGAP1 ADAMTS13 SMN2 HS6ST1 GOSR2 CCDC141 ATN1 ATP1A3 PRDX1 TOR1A HYLS1 RNU12 VLDLR LAMA1 EIF2AK2 CC2D2A ARSA CHCHD2 ATM ERCC3 FGF12 CHD7 RET MT-CYB CUL4B ZNF142 GPT2 MKS1 PIGP KCNC3 RRM2B GGT1 TRIM8 SPG11 CNTN2 TMEM127 DALRD3 SLC39A4 APC2 TREX1 PPP3CA RAB39B PAH NKX2-1 AP3B2 TTC19 TMEM106B SCN1A NEU1 UROC1 KCND3 VPS13D KIAA0586 TPI1 TARS1 RARS1 CHCHD10 PEX2 MME AARS2 CLCN7 OXR1 SLC13A5 ATP2B3 NPHP1 DNMT3A ADRA2B CTNND2 MDH2 RNASEH2A DRD3 TBP SLC6A1 CIZ1 SOX10 HPCA ARL3 CYFIP2 WWOX SLC52A2 APTX CASK CACNA1B ZFYVE26 PIK3R5 BAZ1B MYOT ATP8B1 WDR45 FLRT3 ARX DUSP6 DNAJC19 MT-CO1 GIGYF2 HMBS SPRY4 SGCE WARS2 EEF1A2 SNORD118 TIMM8A PARS2 PROK2 COA7 ELOVL4 ERCC5 JPH3 CSTB OCA2 CWF19L1 MYH14 RORA FARS2 CP VAMP1 DPM1 PEX6 LNPK SLC25A4 DHDDS HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM KATNB1 C2CD3 GTF2H5 CENPE SOX11 PDHX TMEM260 MPLKIP NSD1 SOX4 L1CAM GTF2E2 ERCC3 RNF113A LRP2 DPF2 GPSM2 PDHA1 LONP1 SMARCD1 ARID2 SMARCC2 SMARCE1 MED12 OSTM1 LRRC32 CRPPA ARID1B SLC25A19 SMARCA4 FRMD4A KIDINS220 WDR4 MRPS25 GLI2 ERCC2 AMER1 TUBB3 MDH1 SMARCB1 TRAPPC12 TARS1 ARID1A DHCR24 HP_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LISSENCEPHALY VPS33B FKTN WDR62 FKRP FOXG1 KIAA1109 DAG1 CRADD KCNA1 CEP152 POMK MFSD2A TUBGCP6 LARGE1 ARX RXYLT1 PIGQ ZNHIT3 PAFAH1B1 COPB2 SIK1 NUP133 OCLN ETFB KIFBP POMT1 GPX4 POMT2 POMGNT2 RNU4ATAC TPRKB GFM2 CRPPA B3GALNT2 CEP85L PNKP PHGDH ATR KNL1 MAP11 SASS6 CTNNA2 PRKDC SLC25A22 TCTN2 APC2 PSAT1 MLYCD DYNC1H1 SNAP29 DCX FAT4 ACTB ISCA1 TUBGCP2 EML1 RELN TUBB2B VAC14 RAB18 RAB3GAP2 TUBG1 WDR4 CCBE1 MCPH1 SCN1B NEUROD2 FTO NARS1 RTTN CTU2 WDR73 KIF2A DHCR24 TUBB3 CDKL5 DLK1 CEP135 VLDLR ETFA TBC1D20 PDHB ADAMTS3 CEP63 NCAPD3 LAMB1 YWHAE POMGNT1 PYCR2 VIPAS39 PHC1 NSDHL PIGP TUBA1A ASPM TRIM8 COL4A1 GMPPB KATNB1 LAMC3 CDK5 KIF14 ETFDH PEX10 NDE1 STIL ACTG1 FIG4 TMTC3 CDK6 METTL5 ANKLE2 PEX13 SCN2A PIK3R2 MEG3 B4GAT1 TP53RK RTL1 DMXL2 CCDC88A TCTN1 TBR1 CENPJ CIT GNAO1 ATP6V1A RAB3GAP1 STS ARHGAP31 CPT2 NEK1 OSGEP MPDZ MACF1 FLI1 LAGE3 WDR26 ADGRG1 CASK TAF13 TMX2 SRPX2 SLC25A19 STXBP1 DCHS1 LAMA2 PI4KA CDK5RAP2 RMND1 ATP6V1E1 ATP6V0A2 CSNK2A1 NUP107 HIC1 HP_CEREBRAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HEMORRHAGE SDHD CFH CCM2 BRCC3 TRAF7 TERT MAX ENG CD46 SDHB TMEM127 DNMT3A FN1 MDH2 NF2 CST3 SMARCE1 KRIT1 JAK2 RET SMAD4 PROS1 APP PDGFB SH2B3 ACVRL1 COL4A1 EPAS1 VHL ABCC6 CPT2 SDHC F13A1 KIF1B DLST PDCD10 TGFB3 FGA SDHA CFI AKT1 SLC25A11 SDHAF2 FGB FH FGG NF1 NDE1 USP18 NOTCH3 BAP1 GDNF SUFU PIK3CA FCGR2C HELLPAR GDF2 SMARCB1 F13B STAT2 COLGALT1 SMO HP_ABSENT_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SPEECH NODAL NFIX IFIH1 UNC80 TCF4 HTT MCOLN1 FOXG1 ARL13B STRADA NEXMIF C2CD3 SLC6A3 ALG11 KIAA1109 KCNB1 SLC9A6 GMPPB PIGV EXTL3 SPATA5 DAG1 CARS2 DISP1 ASXL3 HNRNPH2 CYFIP2 TELO2 KIF15 VPS33A TGIF1 SLC25A12 SIX3 KCNQ5 NEDD4L CACNA1B PPP2R5D NALCN MECP2 PYCR2 IQSEC1 FRMPD4 MRPS34 SLC33A1 RAC1 ASH1L ISCA2 ZEB2 SLC12A2 PMPCB POGZ MPDU1 ZSWIM6 USP27X GRIN1 WARS2 KIAA0586 TRRAP MAGEL2 ALDH18A1 PURA WDR37 DARS2 PRPS1 WDR45B SLC6A17 EP300 ZBTB18 GRIN2B TANGO2 TBCE PIGP SLC1A2 SMC1A KCNH1 KCNA2 HNRNPU DNM1 DYRK1A PPP3CA SHH BCL11B NTRK2 EEF1A2 SPTBN4 FRRS1L PGAP1 PIGN CNNM2 GLI2 SNRPN NRXN1 CHAMP1 DENND5A LIPT2 SNX14 CTNNA2 GFM2 PPP2R1A MBOAT7 TIMM50 NGLY1 KCNJ10 TCTN2 DEAF1 GABBR2 ERLIN2 STAG2 PIGW FRMD4A UFC1 CPLX1 CREBBP GOT2 WDR26 HIKESHI SKI CDON LINGO1 BRAT1 CAMK2A TRIO ELP2 CASK PTCH1 CNTNAP2 DLL1 MSL3 GAS1 DHX30 UQCRQ CCDC47 VPS11 AIMP2 IQSEC2 SATB2 KIF5C TRAPPC11 FGF12 DALRD3 SMS YME1L1 HIVEP2 CNKSR2 GRIA2 FGFR1 UBTF FOXH1 YY1 NACC1 ZIC2 RAB11B PIGG TDGF1 EIF2AK2 PACS1 INTS1 USP7 GABRG2 ADSL EARS2 GNAO1 NCAPG2 HSD17B10 ATRX CUL4B PIGA CHMP1A UFM1 RHOBTB2 TBCD CACNA1E COG8 CLCN4 SOD1 TAF2 NR2F1 ATP10A MED25 GPT2 STXBP1 UBA5 SMARCA2 PNPT1 IARS1 MDH2 ACOX1 TKT SHROOM4 SERAC1 CAMK2B GABRB2 SYNGAP1 LAS1L SLC1A4 TMTC3 MFF NTNG2 ACTL6B NCAPD2 TUBA8 UBE3A ZC4H2 HERC1 RPL10 WAC EXOSC3 KCNAB2 PRDM16 SIK1 GRIA4 FGF8 SETBP1 DEGS1 CCDC88A AP3B2 PLP1 DNM1L CLIC2 CLP1 GSX2 ST3GAL5 ASPA GNS PGAP2 TMEM231 KIF1A MFSD2A HUWE1 TRAPPC2L CDC42 ODC1 CCND2 KAT6A MACF1 RARS2 WDR4 OTUD6B SCN3A COG4 SMARCE1 GRIN2D TOR1A PUS3 DPM2 RALGAPA1 RAB3GAP2 SLC16A2 SLC2A1 TOE1 GEMIN4 CSPP1 BMP4 GABRD GRM1 ATP6V1A IREB2 MRPL12 SYT1 POMT1 TRIT1 WDR45 ADARB1 RMND1 PARS2 INTS8 MID2 UGP2 GNB5 OCA2 DCPS CSNK2A1 FARS2 KLHL15 RERE TMCO1 LNPK TBL1XR1 UBE3B HP_PSYCHOTIC_MENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_MENTATION MT-ND4 FRRS1L MT-CO1 FIG4 AIP MT-ND5 MTHFR USP8 MT-TW MT-ND6 MT-CO3 GSS GRIN2A MT-TL1 MT-ND1 MT-TS2 MT-TF MT-TQ MT-CO2 MT-TH HP_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA RHO KDM1A CLIP2 NDUFA4 WDR62 FKRP NDUFA13 MCOLN1 ERCC3 AP4M1 ADGRG1 GCSH ATRX LYRM7 KIF5A BRCA1 BCS1L ATXN7 PAH RTN2 CYFIP2 ATP13A2 TREM2 SAG STAT4 DNMT1 ARSA IFT140 FRMPD4 SLC29A3 HPRT1 IL23R SPG7 GBA2 SPART HTRA1 ABAT FANCM B4GALNT1 NSUN2 MECP2 C8orf37 BRAT1 NDUFA12 HPDL ALG3 MT-TV TANGO2 PIGP MYORG ABCB7 PDHA1 ALDH18A1 RP1 FDX2 SLC6A19 SPTAN1 PCYT2 TBL2 AHI1 ALG9 MAP11 ADCY5 SLC2A1 GFM2 ZFYVE27 XRCC2 TIMM50 DSTYK CSF1R RUSC2 PMPCA UBAC2 PYCR2 OCLN CYP2U1 WDR81 SDHA CARS1 PSEN1 SYNE1 KCNK4 TREX1 NUP62 LIMK1 ATL1 HARS1 ASPA VAMP1 ZNF513 GPAA1 MSL3 SIK1 GRM7 PEX3 PCARE ALG11 NFASC LINS1 C12orf65 NARS2 SLC44A1 PANK2 HUWE1 GALC SPTBN2 C4A NDUFA9 ACTA1 RAD51 MARS2 COX10 PDYN CCDC88C GRIN1 KIF1C PCDH12 KCNC3 ARL6IP1 NEK2 TRAPPC11 CACNA1A GLUL PIGA CHMP1A REEP1 FANCD2 RLIM IFT88 CCR1 SOD1 GPT2 VPS13C GMPPB KATNB1 AUH RGR IMPDH1 UGDH IFT172 BSCL2 NDUFAF6 SLC46A1 MT-ND2 DNAJC6 DLAT UBE3A PQBP1 AP4S1 BICD2 TMEM67 EXOSC3 LARGE1 TACO1 CYP7B1 PPP2R2B L1CAM ITPR1 SLC16A2 ERCC2 AP4B1 AIFM1 SLC6A5 BEAN1 NONO CENPJ DNM1L ATXN8OS TRAK1 GTF2H5 SETX NDUFV2 TICAM1 KLC2 ERAP1 KCNT1 USH2A ATXN3 PLA2G6 SLC19A3 AGBL5 ARHGEF18 FA2H NDUFAF4 ACSL4 GJA1 FANCC ASNS MT-ND5 ZFR CLPB MEFV ELN GLRX5 HLA-B PRKRA TAF13 COQ5 SRPX2 IREB2 CIT DPAGT1 COQ9 PRKN RBP3 CA4 ATP8A2 MAD2L2 KIDINS220 NKX6-2 TSEN2 TRAPPC6B SELENOI PLPBP MRE11 SEC31A NDUFS4 CACNA1G SLC7A14 ALS2 MAT1A VPS37A RNF113A ERCC6 SNRNP200 TOPORS COX4I1 FTL SLC25A15 GARS1 MKS1 SEMA4A ABCD1 IDH3A DDC SLX4 POLR3A MT-ATP6 GAD1 SLC25A12 FUS JPH3 PEX5 BBS2 CPT1C KCND3 FAS GTF2IRD1 PC TMEM106B AP4E1 ATAD1 PDE6A RFC2 PNPLA6 PALB2 PRPS1 NRAS GLYCTK AFG3L2 MRPS25 PEX13 SLC25A46 PTS NALCN OPA1 SYNJ1 PRKCG KCNQ3 KLHL7 C19orf12 KIF1A KNL1 KCNJ6 LRAT PINK1 DENND5A ERLIN2 SASS6 TFG PRPH GCH1 SPG21 SNCA GRN FAM126A TCTN2 GLRB PSAT1 LBR TAF2 AP5Z1 NAGA FARS2 BCAT2 PET100 MT-ND6 MT-TL1 VCP POLR3B FANCE GDAP2 KCNQ2 KDM5C LIPT1 IL12A-AS1 GLDC AHR MAK VAC14 ATP6AP2 ADSL MFN2 PEX14 ANO10 CHCHD2 ABCC8 SDHD PODXL NDP POMGNT1 GPHN QARS1 DARS2 PRDM8 OPA3 STUB1 VLDLR NDE1 STIL DHX38 TOE1 MTFMT METTL5 HTRA2 PLP1 ANKLE2 ZC4H2 RLBP1 CNGA1 NR2E3 SPAST MATR3 UROC1 DCTN1 CNNM2 TARS1 SLC52A3 COX15 FANCF REEP6 PEX16 CCT5 NEK1 MFSD2A IDH3B ATXN10 MT-TN CA8 EP300 PAX1 TSEN15 IER3IP1 BEST1 PRPF31 HSPD1 COG4 LMNB1 HTT HRAS MERTK CHP1 ZFYVE26 FBXO7 BAZ1B GJB1 KLRC4 TBK1 ROM1 FANCL PDE8B WARS2 CAPN1 TIMM8A PRPF8 RARS1 CDK5RAP2 RUBCN OCA2 SLC18A2 NEFH PCLO PARK7 MT-TE SAMD9L DHDDS DPM1 GCLC ABHD12 ERLIN1 UCHL1 PDGFRB EYS AP1S2 NDUFS7 TRMT10A KY CEP152 RP2 RPGR PRPF4 PDE6B ZNHIT3 HIBCH MLXIPL SLC35C1 ARX MCCC2 SLC33A1 COPB2 SUMF1 OCRL NUBPL NSD1 NRL ISCA2 GBA GTPBP2 GTF2I IFRD1 TGM6 SLC25A22 TAF1 GNAQ EEF2 PRRT2 ALG2 GAN SACS PRUNE1 COQ2 SLC20A2 ARL2BP NDUFS8 SPG11 CHMP2B SQSTM1 MCCC1 AUTS2 CTNNA2 MT-ND1 CLRN1 INPP5E GFM1 EGF MBOAT7 GLRA1 DYNC1I2 MT-TK PPP1R15B SDHAF1 EYA1 UFC1 HIKESHI PEX19 CASK SHMT2 COQ8A CYP27A1 MPLKIP TPP1 MCPH1 PEX1 MICOS13 SLC39A14 IL12A SIGMAR1 SPR RP9 ERCC1 NARS1 DDHD1 FSCN2 CAMTA1 NDUFV1 NOP56 MAB21L1 PEX2 GJC2 RPGRIP1L ARL6 MED17 SURF1 GMPPA RFT1 EIF2S3 KIAA1549 CNTNAP1 IBA57 SLC2A3 ECHS1 CERKL GRM1 COG5 PHC1 FOXRED1 CACNA1E AAAS PEX11B PSAP ASPM VWA3B SMG9 WDR73 JAM2 MT-TL2 SLC39A8 PKDCC AMPD2 SLC1A4 ZEB2 VRK1 OSTM1 PGM3 TRAF3 TTC8 WASHC5 TLR3 ERCC4 NOTCH2NLC ST3GAL5 MT-TW SLC12A2 MAN2B1 ERCC8 RPE65 PUS3 CDHR1 NDUFS2 PEX6 SLC25A21 DCC NDUFAF2 NT5C2 ATP6V1A NDUFAF5 ZNF408 HGSNAT UBE2T PARS2 SDHB PIGT POMT2 UGP2 SEMA6B ABCA4 EXOSC9 PRNP NDUFA2 KCNA1 RAB18 PPOX UNC93B1 SCYL1 MT-ND4 GAMT CTSF MTPAP EXTL3 NIPA1 CNGB1 WWOX NDUFA10 FANCB HEXB MRPS34 GTF2E2 AMT IL10 FLRT1 SCAPER PDGFB ATP5MD GM2A TRMT5 KIZ PMP22 RP1L1 RNASEH1 SEPSECS NTRK2 UBAP1 PIGN JAM3 ADAR SNRPN PEX10 FANCI COX5A CRX CLP1 DKK1 TH POMK RAD51C POU3F4 CRAT NDUFAF3 PROM1 ISCA1 TUBGCP2 GLE1 NEU1 ELP2 ATXN1 CNP UQCRQ GRID2 PGAP1 IMPG2 NDUFS1 OFD1 MAPT ACOX1 REEP2 CEP135 PDE6G CRB1 CC2D2A CEP63 NCAPD3 SPATA7 LRRK2 PRPF3 PRCD MECR RNASEH2C DARS1 RDH12 BRIP1 DDHD2 EXOC8 DGUOK KIF14 TULP1 PEX26 NDUFS3 CDK6 MFF SLC6A9 C9orf72 TUBB2B TTC19 CCDC88A VPS13D PRPH2 PEX12 TLR4 RAB3GAP1 ARL3 GUCA1B BRCA2 TUB RARS2 FAM161A CREBBP WDR4 CAV1 PRPF6 TTBK2 TBX4 TMX2 PLCB1 RFWD3 KRAS PI4KA FANCG ELOVL4 FANCA USP8 PRSS12 ATXN2 MT-ND3 POMT1 CWF19L1 HP_BRISK_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRISK_REFLEXES ANO10 COQ5 PKDCC CNP BSCL2 SIGMAR1 COX5A COQ8A MT-TN FTL PPP1R15B GCH1 LYRM7 C19orf12 IER3IP1 ATRX TRMT10A REEP1 GBA2 ALDH18A1 SPAST COG5 PARK7 TH PMPCA MRPS25 CARS1 ALS2 CAMTA1 HARS1 BCAT2 SPG11 MT-TL1 TUBGCP2 GLE1 JAM2 NDUFA4 ADSL COX10 FUS MT-TL2 HP_FACIAL_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_DIPLEGIA POLG KLHL41 DMPK ACTA1 CNTNAP1 TTN VCP KLHL40 NEB TPM2 RRM2B ADGRG1 TPM3 LMOD3 FKTN C12orf65 GLE1 POLG2 CRYAB TWNK RYR1 SHMT2 SLC12A6 MYPN SRPX2 FKRP CFL2 SUCLA2 POMT1 SOST SCO2 PI4KA KBTBD13 ABCA1 YME1L1 TK2 SPEG ADCY6 SLC52A3 MPZ BIN1 SLC25A4 CRPPA HP_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLURRED_SPEECH SETD2 P2RY11 SPG7 ATXN1 ATP6AP2 ANO10 HCRT HLA-DQB1 KCND3 KCNA1 SPART ZNF365 DNAJC6 PODXL CTSH SPTBN2 GALC ABCD1 MAPT MOG ACOX2 PRNP SLC1A3 ATP6V0A2 MT-TK ITPR1 DARS2 SYNJ1 NEU1 FASTKD2 VPS13A TNFSF4 GLB1 HLA-DRB1 CA8 EZH2 CWF19L1 HP_MEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALENCEPHALY TSC1 FGFR2 KRAS ASPA MLC1 FGF8 STRADA PIK3CA AKT3 DLL1 FOXH1 PTEN CCND2 HEPACAM NRAS CRADD PTCH1 MTOR FGFR3 HERC1 TBC1D7 DISP1 NODAL CDON PIK3R2 IFNG TGIF1 RAB39B SMS ZIC2 SIX3 SMO TDGF1 TSC2 SHH GAS1 GLI2 HRAS DEPDC5 HP_PLAGIOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLAGIOCEPHALY RNASEH2B PPP2CA PIGW UNC80 RAC1 RAC3 USP7 PGAP3 KMT2C MN1 KIDINS220 KIAA1109 FGFR3 FGFR2 TWIST1 NFIX PGAP2 PHF21A PIGV MYMK ERF PPP3CA SAMHD1 SMC3 SLC26A2 MED13L MAPK1 FBXO11 TCF12 NALCN POLR2A B3GALT6 PIGQ FAM20C FKTN ARID2 UGDH PKDCC ERMARD TBC1D24 PIGO PIGL TREX1 ARID1B MEG3 COL11A2 FBXL4 PIGY NRAS RTL1 MBTPS2 DPYS STXBP1 EHMT1 PRUNE1 SALL4 ADAT3 NONO ADAR MIR140 PPP2R5D PCGF2 TBCD ZIC1 NRXN1 KAT6A MAFB COL11A1 RNASEH2A PPP2R1A ZBTB20 MED12 LMX1B MESD MADD INPP5E TCF20 DYNC1H1 CNOT3 CHN1 ADNP AFF4 HRAS BMP4 EFNB1 CNTNAP2 HERC2 CHSY1 SET NEPRO CCDC47 KRAS ADARB1 DHX37 MAF WDR35 RNASEH2C TUBB3 DLK1 IFIH1 HP_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOLOPROSENCEPHALY ZIC2 TMEM107 HESX1 TGIF1 POMT2 LHX4 SHH GLI3 BUB1B PROP1 PRRX1 CDON FKRP FGFR1 STAG2 GLI2 C2CD3 TMEM216 CHD7 GAS1 RB1 FGF8 WDPCP TMEM231 SIX3 POMT1 TMEM67 GPKOW RPGRIP1 CNOT1 SMC1A MKS1 RPGRIP1L CSPP1 POU1F1 TDGF1 POMGNT1 CEP55 CILK1 LARGE1 BUB1 CC2D2A SOX2 BUB3 TCTN2 FOXA2 DISP1 WDR81 PTCH1 GMPPB TRIP13 FOXH1 VANGL2 DHCR7 L1CAM DLL1 OTX2 RTTN FKTN B9D2 HOXA2 HUWE1 CEP290 NODAL MTHFR CEP57 SEMA3E PPP1R12A B3GALNT2 FGFR3 B9D1 SUFU SEC31A HP_NYSTAGMUS_INDUCED_HEAD_NODDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYSTAGMUS_INDUCED_HEAD_NODDING GTF2IRD1 BAZ1B CLIP2 LIMK1 GTF2I ELN RFC2 TBL2 GPR143 HP_CALVARIAL_SKULL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_SKULL_DEFECT HSPG2 WNT7A UBR1 DLL4 RBPJ FREM2 ARHGAP31 ALX4 NSD2 LBR COL18A1 NELFA PLEC LETM1 ITGB4 DOCK6 GRIP1 EOGT NOTCH1 FRAS1 BMS1 HP_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOSYNOSTOSIS IFT43 COLEC10 KRAS CDH11 RAC3 POLA1 RNF113A FGFR1 SMO TBX1 IFT122 FGFR3 CEP120 ZIC1 EXTL3 ERF RAB23 ATRIP CEP152 SKI UFD1 GPC6 TCIRG1 ATR KANSL1 WDR35 TGFBR1 FGFR2 TNFSF11 LIG4 B3GALT6 FLNB RBBP8 SEC24C FLNA GTF2E2 TBC1D24 MEGF8 CENPJ DONSON RREB1 PTEN POR ESCO2 DMP1 HNRNPK HIRA STAT3 AHDC1 GLI3 TGFBR2 IFT140 ORC4 MAN2B1 B3GLCT DPH1 TWIST1 RSPRY1 DSE ALX4 GP1BB CCNQ CDC6 PSAT1 SON PHEX MASP1 SLC2A10 MSX2 SMAD3 SPECC1L CCBE1 MPLKIP SETD2 CYP26B1 CHST3 FBN1 CDT1 PLK4 TANC2 MAF ENPP1 CHST14 CENPE IRX5 SNX10 TRAIP JMJD1C TLK2 YY1 MED12 GMNN ALPL ADAMTS3 ERCC3 SCARF2 RECQL4 PIGT BPNT2 PPP3CA LRP5 COMT GNPTAB SETD1A NFIX CDC45 EXOC8 SLC39A8 PCNT GLIS3 IL6ST P4HB B3GAT3 APC2 MYH3 WDR19 LEMD3 ZEB2 CTCF COLEC11 ORC6 ERCC2 PPP1CB TARS1 EFNB1 AKT1 GTF2H5 SLC25A24 NSUN2 CLCN7 SLC12A6 KAT6A HUWE1 ARVCF TCF12 IFT52 SLC35A2 NSD1 FAT4 SMAD6 MAP3K7 B4GALT7 BMP4 DPF2 IL11RA SEC24D RTTN ORC1 CWC27 KPTN TMCO1 HP_ABNORMAL_JOINT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JOINT_MORPHOLOGY CLIP2 COMP NODAL NFIX SOX4 HES7 GPHN EVC AP4M1 SF3B4 KIF5A BRCA1 IRF5 CFI GPC6 GLB1 KANSL1 TGFBR1 TRPS1 STAT4 F8 B3GALT6 PSTPIP1 GLI3 IL23R SLC12A2 GBA2 UBA1 DYM NSD2 DHCR7 CBS NSDHL ASXL1 COL10A1 TNNI2 RNU4ATAC VPS13A LMBR1 GLI1 LAMB3 HOXD13 GDF5 DHODH GPC3 SEC61A1 G6PC GFM2 XRCC2 SOS1 GP1BB DSTYK IL2RA LMX1B F10 COL6A3 HOXD10 PYCR2 ERCC5 SDHA CARS1 BRAF PTCH1 DLL1 MYH3 DNASE1L3 HGD GRIA3 MBTPS2 HLA-DRB1 CCDC8 SERPINF2 PTPN11 COL2A1 HYAL1 GMNN NADSYN1 TMEM70 NPAP1 ENPP1 RAD51 COL6A1 TRPV4 SMC3 SNORD116-1 VAMP1 MLX CENPT AIP MAF HSPG2 PTPN22 MVK NT5E RBM8A SIX6 ANKH IFT172 CHMP1A CDC73 FANCD2 TUBB3 MKKS MKRN3 WNT7A FDFT1 SOD1 ALX3 CRKL EIF2AK3 TDGF1 GLA PTH1R MUC1 TNNT3 UBE3A AP4S1 IL36RN NLRP3 PFKM BICD2 TWIST2 RAB23 PEX2 IGHMBP2 DONSON DYNC2LI1 ZBTB20 C12orf57 PPP1CB AP4B1 SLC34A3 SCN1B CD247 AIFM1 EXT2 SLC6A5 GDF6 EFNB1 NONO GTF2H5 MYBPC1 ERAP1 MYL2 COL7A1 TRIP11 F9 HACE1 MBTPS1 HS6ST1 PIEZO2 HDAC8 NSD1 LAMB2 GJA1 CHN1 FLNB FIG4 KMT2D SHOX ATP6V1E1 ARID1A B4GALT7 GLI2 GEMIN4 DYNC2I1 ZEB2 NOD2 MEFV HLA-B COL11A2 LIFR FLNA RIT1 TWIST1 FGFR1 MCFD2 DDRGK1 OCRL MACROH2A1 ERCC4 MAD2L2 CCN6 FGF9 CD79A FBXW11 SELENOI RERE MYH8 SLC12A3 SCN9A COLEC10 HPGD SERPINF1 FGFR3 DOK7 HOXA13 CAV1 ZNF469 RRAS2 PIGV CD96 MAFB FAS SELENON UFD1 PYCR1 RMRP XYLT1 SUZ12 SMC1A TNXB ITGB4 GTF2IRD1 AP4E1 BMP1 TPRKB ESCO2 DMP1 PALB2 TMTC3 HEPHL1 PRG4 TGFB1 MECOM CYP27B1 FBN2 F13B EZH2 NIN ANKRD55 DYRK1A ERCC2 BCR ADAR ATR PIK3CD COL6A2 VDR WNK1 GCH1 ERLIN2 LRP4 SOX2 PTRH2 SSR4 EXOC6B PTPN2 ASAH1 SETD2 CYP26B1 UMOD NEPRO CHST3 ACVR1 KLHL9 GCM2 KDM5C IL12A-AS1 KCNK9 TPM2 TBX3 INPP5K MAP1B JMJD1C LPIN2 CBL PTCH2 CRTAP ATL3 BMPR1B ATP6AP2 LRP6 PEX6 ANO10 ADAMTS3 CYP19A1 ERCC3 SPART SLC25A1 CRLF1 SDHD HPRT1 FOXH1 KRAS SIX3 IARS2 WAS EXTL3 PLEKHG5 STUB1 RPL26 SPG11 SHH ACTG1 PSMB4 TPM3 ZNF687 ZC4H2 NIPBL CANT1 CCBE1 CDON HACD1 WDR35 LONP1 TFAP2A RYR1 ORC6 COLQ MTX2 IHH COL9A3 NKX3-2 PRKACB TBCD ERMARD COL11A1 COL12A1 RNASEH2A EFL1 FGF8 FLI1 COX8A HJV ADA2 GUSB TOR1A CPT2 AFF4 HRAS CDC45 PLAU SLC18A3 FANCL PHF6 BHLHA9 SALL1 EVC2 ORC1 TGIF1 TFAP2B FKRP ITGA6 KLHL7 IDS TBX4 PSAT1 PHEX ATP7A MEOX1 SALL4 MMP13 VEGFC COL5A2 KCNJ1 KMT2A CHST14 ACTA1 GLRB MLXIPL ANKLE2 HFE PLOD2 CYP2R1 CPLX1 DCC MEG3 OTULIN ATP6V1A CLCF1 SETBP1 COL9A2 COL1A2 MYH7 MATN3 BCOR FGFR2 CLTCL1 LMNA IRF6 TNFRSF11B TELO2 AUTS2 PCDH19 DDR2 ALX1 CDC6 GPX4 CREBBP UPF3B HINT1 SHOC2 DHCR24 PWAR1 WDR4 NLRP1 MMP14 RASGRP1 GJC2 SLC39A14 IL12A CCDC47 UBE2A FCGR2B AGRN ADAMTSL2 ERCC1 SMARCAL1 RNASEH2C SOX9 COL5A1 IFT52 SLC26A2 FKBP10 IFIH1 POMT2 CHRNG RECQL4 TBX1 FCGR2A TBX6 PCNT GBA GNPTAB DPF2 SPTB TBX5 GMPPB COL13A1 LETM1 GPC4 LARGE1 BLNK SLC39A8 PNPT1 GLE1 PSMD12 FGB HOXA11 PIK3R2 CTCF PTEN RIPPLY2 IFT57 RAG1 CA2 SRY GDF3 ACAN SLC12A1 BTK IL1RN PAFAH1B1 OSGEP MAP3K7 F2 GORAB PUF60 CLCN5 LAMC2 NT5C2 CCN2 GABRA1 UBE2T NTRK1 SLC4A1 SLC10A7 SH3KBP1 ATP7B SDHB KIF7 UGP2 INPPL1 CNTN1 RAB33B RAB18 SLC37A4 PADI4 AEBP1 TMEM43 HNF1B MFN2 CEP120 ATP6V0A2 KDM6A RASA2 FGD1 DNAL4 HCN1 ARID1B SBDS DCLRE1C UFSP2 RAF1 EXT1 NALCN FANCB ERLIN1 NUP133 THRA IL10 MEGF10 COL1A1 RREB1 IL2RB DISP1 MEN1 RPL13 CD79B SPAST HIRA PLEC TNFRSF1A GJB2 PEX1 PHGDH GFPT1 NUP107 SLCO2A1 FANCI COL9A1 DSE PRKACA PITX1 MED12 CLCNKB COG1 USP9X NLRP12 POU3F4 TGDS SLC2A10 SUFU LMOD3 SLC5A7 EMD F13A1 SRP54 THOC2 ANKRD11 CHSY1 MYOD1 SYNE2 OFD1 PLOD3 MASP1 COL3A1 MAGEL2 DLK1 CHD4 MAP2K2 CTDP1 IFITM5 TBX15 SCARF2 SIL1 CNTNAP1 TRIM2 NXN NEB PRPS1 BRIP1 GALNS SLC29A3 UROS BGN MYD88 PAX3 SCN1A ALG14 ZMPSTE24 F5 KY ZIC2 TCTN3 UCHL1 DPAGT1 SLC35A3 CTBP1 CYP3A4 BRCA2 PWRN1 KAT6A TRAPPC2 FAT4 CTLA4 LAGE3 ELN PLOD1 VCP GHR STXBP1 PDGFRB POP1 RETREG1 LZTR1 FLNC RFWD3 RTTN CHEK2 DYSF PORCN SYNE1 TRAPPC12 CIITA ARSB HNF4A ARNT2 MESP2 WNT4 GAS1 UBE3B TP53 PEX5 AGA ADGRG1 LARS2 ATRX PRMT7 TCF3 BTNL2 XPC DDB2 ACP5 RTN2 CTNS GABRG2 KIF22 FKTN FANCM CDT1 GNPTG KIAA0586 FN1 ALG3 SYT2 EP300 BPTF ALDH18A1 ROR2 TBL2 TBR1 ALG9 ITGA7 CHRNA1 ZFYVE27 CD244 GNE MUSK HERC2 GGCX UBAC2 NHP2 FBN1 NF1 LACC1 VAC14 LRRC8A LIMK1 FGA RPS15A CLCN7 CHAT GATA1 SMARCA2 FGG GABRD ALPL LBR HUWE1 WDR73 TCF12 IRAK1 C4A PCYT1A YY1 GALC EFEMP2 TNFSF11 WRN F7 ARL6IP1 TREX1 BPNT2 VWF WIPF1 EIF4A3 COMT DYNC2H1 GPKOW FUT8 POMT1 SNORD115-1 MADD TBC1D7 CCR1 MED25 RPL10 FBXL3 SHROOM4 PIGL SMARCD1 NOG PQBP1 SAMHD1 ACTB EXOSC3 CYP7B1 MAP2K1 L1CAM FLVCR1 SRD5A3 NOTCH3 AKT1 DLL3 SIK3 ZSWIM6 BMPER LGI4 OBSL1 ANK1 FHL1 FA2H RB1 CAPN3 FANCC IGLL1 NDN RRAS GJB6 BMP4 KAT6B STAG1 SLC39A13 SPRTN CUL7 EMG1 SMARCC2 SCARB2 KNSTRN MORC2 SNRPN SEC31A RNF113A PTDSS1 DNAJB11 KIAA0319L FZD2 APC SPTA1 GCDH ABCD1 MAPK1 SLX4 AMER1 NANS ABCG8 RIPK4 SRCAP HAMP LAMA2 DNAJC21 NAA10 IKBKG RFC2 NRAS TGFBR2 ORC4 DAG1 STX1B UNC80 ERCC6 SMARCE1 MCTP2 FGF16 IDUA SMAD3 PSMB9 FANCE CCR6 CFL2 SCN2A SLC40A1 ERGIC1 RSPRY1 BAG3 CUL4B MMP2 EBP REEP1 HBB FXYD2 P4HTM SOX11 RTL1 FRZB GAN PRDM16 NEDD4L TARS1 ADAT3 FANCF SATB2 PPP2R5D STAG2 C19orf12 ARVCF RINT1 SERPINH1 LMAN1 SLC16A2 CSPP1 PPP2R3C BAZ1B MYO9A TF KLRC4 ANTXR2 TIMM8A KLHL41 RAG2 KIF1A LFNG OCA2 MYH14 DNASE1 DKC1 MYO18B NPR2 DPM1 RNASEH2B RAC3 HTT FBLN1 ARFGEF2 WNT5A ARID2 EPB42 ATL1 FLT4 SKI LOXL3 ZIC1 CHRND MAP3K20 CAPN1 SEC24C ADAMTS2 PSMB8 HLA-C GTF2I FBLN5 NTN1 PRKCD TBX22 IL12B SOS2 B3GLCT LAMA3 MIR140 IGHM GLRA1 NGLY1 POR SNAP25 SDHAF1 CDH3 SFRP4 TP63 CYP27A1 MPLKIP NUP88 NOTCH2 MRAS F11 FUZ MEGF8 MTHFD1 NOP10 MIF COG5 EED PSAP SMG9 CHRM3 STAT3 IL6ST PKDCC CHST11 B3GAT3 PEPD LEMD3 COLEC11 TP53RK KCNAB2 POLR3A SMO AARS1 ATAD1 RUNX2 TNFAIP3 PIGY ABCC6 ADGRV1 SLC35A2 EPCAM PUS3 OPA3 ZDHHC9 TGFB3 MMP1 SLC35D1 APOE PIGT NFKBIL1 YWHAE RAD21 SMARCB1 CSGALNACT1 PIK3C2A FOXP3 IL6 CENPJ TONSL SPP1 ALG2 SH3PXD2B NIPA1 CTC1 GTF2E2 ARF1 SLC52A3 VPS13B SERPINE1 POLR1A GSC MAN2B1 SPTBN4 ANO5 RAB3GAP2 A2ML1 TIMM22 EYA1 GPR101 CASP10 SMAD4 SOX5 PIGN SETD5 DKK1 SMARCA4 RAD51C DVL3 XPA SMOC1 ELP1 ANAPC1 COL27A1 NDUFAF6 DVL1 SMARCAD1 PRKAR1A MYOT SLC22A4 ECEL1 FASLG VANGL1 ITCH ASPN GNA11 COPA APC2 SAMD9L SLC6A9 AP3B1 LRBA BMP2 ACTG2 FERMT1 WASF1 RAPSN GNAS TLR4 RNF168 SNRPB VPS33A MCOLN1 FGFRL1 SIX1 DHX16 COL17A1 HK1 PIK3R1 FANCG TOR1AIP1 FANCA AP2S1 TFR2 SVIL ECE1 HP_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRITIS RNASEH2B SLC37A4 COMP PADI4 IL6 STAT4 MMP13 HPGD AEBP1 AGA SPP1 HNF1B TBX1 DNAJB11 HLA-DRB1 CTLA4 F8 SPTA1 EPB42 COL2A1 ATP7B FAS CFI COL5A2 SAMHD1 PTPN22 TCF3 UFD1 ACP5 DCLRE1C UFSP2 ABCG8 PTPN2 EXT1 PSTPIP1 OCRL SEC24C HPRT1 IL23R IL10 HLA-C UBA1 CAV1 FGFR3 COL9A2 HFE COL1A1 RREB1 COL9A3 UMOD MATN3 IL2RB CD79B PRKCD PRG4 SMAD3 IL12B VPS13A HIRA TNFRSF1A COL11A1 ANKRD55 ASAH1 GDF5 ADAR TNFRSF11B PIK3CD LMX1B SEC61A1 G6PC SLCO2A1 IGHM GPR101 CASP10 ACAN GP1BB GCH1 NLRP3 IL2RA CD244 BTK CLCNKB GHR HOXD10 UBAC2 PHEX NLRP12 FBN1 LACC1 LRRC8A CD247 COL9A1 SLC40A1 DNASE1L3 RASGRP1 PSMB9 HGD CLCN7 IL12A CCR6 FCGR2B RNASEH2C COL3A1 IL12A-AS1 COL5A1 IRAK1 NTRK1 SLC26A2 C4A KIF22 MVK JMJD1C SLC22A4 TRPV4 IFIH1 FASLG LRP6 MTHFD1 MLX LBR FCGR2A AIP KIF7 ASPN TRPS1 GBA TREX1 SPTB MEFV MIF WIPF1 ANKH COMT WAS MMP2 PRPS1 IDS CCR1 BLNK COL11A2 COPA PSMB4 MYD88 GLA FRZB LEMD3 MUC1 ZNF687 IL36RN PFKM LRBA ZMPSTE24 EXT2 RAG1 TRAPPC2 GNAS MMP14 CANT1 ERAP1 TLR4 RNASEH2A F9 RNF168 ARVCF MIR140 EPCAM ANK1 HJV ADA2 IGLL1 GJB6 TGFB3 IRF5 NOD2 HLA-B TF KLRC4 SLC12A3 CCN2 APOE CCN6 PIK3R1 RAG2 SCARB2 SLC4A1 SH3KBP1 GJB2 NFKBIL1 KNSTRN CD79A MYH14 DNASE1 TFR2 CIITA HNF4A FOXP3 LMNA HP_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_ARTHRITIS CD247 IL2RA PADI4 IL6 PTPN2 HLA-DRB1 STAT4 PTPN22 IL10 GCH1 MIF CD244 IL2RB ACP5 NFKBIL1 DCLRE1C SLC22A4 CIITA LACC1 ANKRD55 HP_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_DISLOCATION KDM6A CLIP2 NODAL NFIX STAT4 PUF60 SOX4 GPHN FBLN1 COL5A2 ATP7A FBN2 COL6A1 TBX1 ARFGEF2 SF3B4 WNT5A ARID2 BRCA1 BICD2 DISP1 TPM2 SKI CHST14 ACTA1 GLRB GPC6 PIEZO2 CHRND GMPPB SIX3 COL1A1 KANSL1 MAP3K20 TGFBR1 PPP2R5D B3GALT6 CPLX1 COL12A1 KIF22 OCRL HDAC8 SEC24C GLI3 TBX15 SLC12A2 ATP6V1A GTF2I DYM NSD2 SLC35A3 DHCR7 NSDHL ASXL1 FANCM COL1A2 FBLN5 RNU4ATAC SYT2 EP300 CLTCL1 SMC1A ALDH18A1 SHH TNFRSF11B TELO2 TBL2 DHODH LMX1B SHOX ALG9 ITGA7 CHRNA1 COL2A1 XRCC2 GP1BB GLRA1 NGLY1 DSTYK CDC6 SELENON SNAP25 COL6A3 MAP3K7 PYCR2 CREBBP CDON ORC1 VAC14 LIMK1 PTCH1 CYP27A1 DLL1 MPLKIP DNASE1L3 HGD MBTPS2 GAS1 CLCN7 CCDC8 CHAT CCDC47 SMARCA2 CDT1 UBE2A TRPS1 AGRN ERCC1 SOX9 NOTCH2 COL5A1 FZD2 RAD51 SMC3 EFEMP2 ZIC2 SLC18A3 ADAMTS2 VAMP1 POMT2 TDGF1 CHRNG RECQL4 KIF7 HSPG2 GNPTAB DPF2 BPNT2 RBM8A TGIF1 EIF2AK3 COL13A1 TGDS EIF4A3 FANCD2 COMT IFIH1 LETM1 FUT8 FLNA POMT1 GDF5 WNT7A GPC4 CHRM3 CD96 LARGE1 SSR4 GJA1 FBXL3 IL6ST SHROOM4 PKDCC CHST11 B3GAT3 SMARCD1 COLEC11 EXOSC3 FGF8 DONSON EXOC6B LONP1 C12orf57 SMO ERCC4 ERCC2 STXBP1 CD247 EXT2 SLC6A5 RYR1 AARS1 ATAD1 AKT1 HOXA11 GTF2H5 CANT1 MYL2 HACE1 AEBP1 PAFAH1B1 COL6A2 OSGEP OBSL1 KAT6B FHL1 FANCC KMT2D ARID1A B4GALT7 GLI2 GORAB GEMIN4 IL2RA ELN SLC39A13 FGFR1 CUL7 UBE2T MACROH2A1 SMARCC2 SLC10A7 ATP6V1E1 ATP6V0A2 MAD2L2 SMARCAL1 YWHAE RAD21 SMARCB1 PYCR1 CSGALNACT1 MYH8 FKRP LMNA SEC31A COLEC10 RNF113A FLNB ZNF469 APC GCDH USP9X SLC26A2 UFD1 PIGL ARID1B XYLT1 SLX4 EXT1 FANCB NOG THRA GTF2E2 ARF1 GTF2IRD1 DNAJC21 PITX1 BMP1 RREB1 PTEN IL2RB RFC2 PALB2 TMTC3 HIRA GSC GPC3 ORC4 ANKRD55 ATR FANCI EYA1 DSE TNNT3 VDR MYH3 SMARCE1 NLRP3 SETD5 LRP4 STAG2 SMARCA4 RAD51C PTRH2 DVL3 SLC2A10 MCTP2 LMOD3 SLC5A7 SMOC1 PTPN2 COL27A1 SLC40A1 FANCE CHST3 FBN1 CFL2 DVL1 OFD1 PRKAR1A MASP1 COL3A1 INPP5K MAP1B JMJD1C FOXH1 ECEL1 GMNN IFITM5 NIPBL ERCC3 SCARF2 SLC25A1 SIL1 IARS2 NXN NEB EXTL3 ANKH EBP BRIP1 PORCN MYH7 SOX11 BGN FIG4 TPM3 SLC6A9 ZC4H2 TGFBR2 HACD1 KMT2A ZMPSTE24 ORC6 NEDD4L TARS1 FANCF TCTN3 PRKACB TBCD PTPN22 ERMARD CTBP1 SNRPB ARVCF BRCA2 ROR2 FGFRL1 FLI1 COX8A TOR1A PLOD1 SIX1 BAZ1B CDC45 MYO9A FANCL HK1 KLHL41 RFWD3 FANCG FANCA KLHL7 TBX4 ARNT2 MKKS UBE3B HP_CONGENITAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HIP_DISLOCATION ACTA1 CHRM3 KDM6A WNT7A TELO2 VAMP1 DHODH ATP6V1A PPP2R5D PUF60 TBCD TPM3 TBX15 MYL2 FBLN1 ITGA7 COL5A2 EYA1 IARS2 SLC25A1 COL12A1 PAFAH1B1 SNRPB ZNF469 NGLY1 OBSL1 ATP6V0A2 KAT6B SELENON SNAP25 COL13A1 USP9X BICD2 TPM2 FHL1 COL1A1 MAP3K7 KMT2D PIEZO2 PTRH2 RYR1 PORCN GPC4 MAP3K20 MYH7 SLC5A7 GEMIN4 SIX1 MYO9A KIF22 THRA SHROOM4 FLNA CCDC8 HSPG2 CHAT DNAJC21 NSDHL AGRN OFD1 CUL7 HACD1 ATP6V1E1 COL3A1 LONP1 SYT2 YWHAE CLTCL1 PYCR1 PLOD1 ALDH18A1 MKKS SLC18A3 GPC3 RECQL4 UBE3B HP_LIMITATION_OF_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_JOINT_MOBILITY NOD2 CLIP2 COMP COL2A1 SALL4 STAT4 UNC80 MMP13 NALCN ADGRG6 AGA TNFRSF11B FBN2 SF3B4 RMRP LMNA TPM2 SKI GDF5 ACTA1 SCN4A GLRB PIEZO2 ALDH18A1 ZNHIT3 ENPP1 MAP3K20 GABRG2 FGFR2 SMARCB1 PLOD2 COL12A1 PSTPIP1 OCRL HDAC8 PSMB8 PTPN22 CLCF1 GTPBP2 GTF2I DYM SETBP1 CBS HFE NDE1 MMP9 MYH7 TNNI2 GNPTG RNU4ATAC MATN3 FHL1 GARS1 SPEG B3GLCT TNNT1 MECOM TELO2 EPG5 TBL2 FBN1 LMX1B TTN DEAF1 ITGA7 PCDH19 DDR2 FKBP10 GLRA1 SMC1A CD244 GNE ACVR1 MUSK MAP3K7 BMPR1B PHEX ERCC5 GPC6 SFRP4 HRAS SGSH LGI4 GUSB ERCC8 RAB18 SLC26A2 PTDSS1 RAB3GAP2 LIMK1 CYP27A1 LTBP2 HGD HSPG2 SGCA PTPN11 CKAP2L SHH ADAMTSL2 GABRD TGM1 HUWE1 ERF PCYT1A TRPV4 COL6A1 FUZ SMC3 CHRNG PYCR1 WRN ADAMTS2 LMBR1 TBC1D20 GNAS CISD2 PCNT RECQL4 ITGB4 TBX5 GPKOW BHLHA9 EED WNT7A COL6A3 FDFT1 MYH3 CD96 FLNA SLC39A8 PNPT1 TYROBP GLE1 PKDCC B3GAT3 LEMD3 HPGD TNNT3 TREM2 UBE3A BICD2 COLEC11 ACTB LARGE1 KCNAB2 IRF6 ZBTB20 SCN1B STXBP1 CD247 SRD5A3 SLC6A5 NOTCH3 ATAD1 AKT1 GNPTAB HOXA11 SIK3 IDUA RAB3GAP1 MYL2 PIGY COL1A2 NONO COL6A2 PLA2G6 ADGRV1 KAT6B NSD1 ANTXR2 LAMB2 CAPN3 PERP FLNB SHOX GBE1 OPA3 IL2RA ELN LIFR STAG1 GNAI3 SPRTN SLC25A19 CCN6 GABRA1 MACROH2A1 FGF9 SLC10A7 ZC4H2 MECP2 ALOX12B EMG1 NFKBIL1 PTH1R RAD21 PPP1R12A CSGALNACT1 INPPL1 PIK3C2A SCN2A RERE MYH8 MFN2 SCN9A PADI4 COLEC10 FGFR3 HNRNPDL TMEM43 TONSL LTBP3 SUMF1 SH3PXD2B EXTL3 MAFB NIPA1 USP9X SELENON F8 FLII HCN1 MAPK1 ASXL1 SUZ12 VPS33A TRPV3 SRCAP RAI1 LAMA2 PNKD GTF2IRD1 L1CAM PITX1 NEK9 PTEN EMD ESCO2 IL2RB RFC2 PRG4 TGFB1 GJB2 GSC DST EZH2 ANKRD55 MAN2B1 KIF1A IDH1 ATR ANO5 ERCC6 SLCO2A1 FZD2 ADAMTS10 STX1B SMAD4 ERLIN2 SETD5 DKK1 ADAMTSL4 NOG MMP2 TGDS RYR1 PTPN2 SETD2 SLC40A1 SYNE2 CHST3 IQSEC2 PLOD3 MAF FGFR1 MYOT MASP1 CTNNB1 KCNK9 NAGLU MVK SLC22A4 NPR2 ECEL1 MED12 CRLF1 VANGL1 ITCH ERGIC1 IFITM5 TBX15 NIPBL RSPRY1 SCARF2 ASPN ABCA12 UBA1 GPHN MYBPC1 COL11A2 ANKH ALOXE3 IDS PLCB4 SLC29A3 P4HTM ATRX ACTG1 BGN APC2 PLP1 SLC6A9 PRRT2 PAX3 HERC1 CNTNAP1 HACD1 PRDM16 KMT2A MBTPS2 SCN1A ZMPSTE24 TFAP2A ACTG2 COLQ MTX2 KY ADAT3 BANF1 KRT83 ASPA GNS TPM3 SNRPB TRAPPC2 PLEC TOR1A CPT2 APC SLC16A2 TBX4 PPP2R3C BAZ1B GLB1 PTF1A HGSNAT PDGFRB WFS1 IL10 FLNC ALDH3A2 ERCC2 STING1 DYSF COL1A1 OCA2 KLHL7 SYNE1 IDH2 ERCC1 CIITA ARSB PLOD1 ATP7A ADCY6 BIN1 SVIL HP_LIMITED_ELBOW_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_EXTENSION ITCH LMX1B FGFR2 FLNA COL2A1 MMP13 STAG1 FGFR3 BGN NIPBL MATN3 FZD2 PCNT RSPRY1 CLCF1 TONSL CRLF1 SF3B4 HDAC8 RMRP COMP HUWE1 KCNK9 RNU4ATAC FLNB MAPK1 TBX5 GPC6 NPR2 MED12 SFRP4 CSGALNACT1 OPA3 ATP7A EZH2 PPP2R3C HP_JOINT_HYPERMOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERMOBILITY MTM1 KDM6A CLIP2 TET3 RPS6KA3 SOX4 CTNND2 VPS37A COL5A2 ATP7A MED12 GORAB PTDSS1 COL6A1 TBX1 ARFGEF2 RMRP KCNH1 SHANK3 IFT122 ARID2 RRAS2 ABCC9 ATP6V0A2 COMP NRAS RASA2 FGD1 ATP7B ZNF341 TENT5A KMT2A ATRIP USP9X COL11A1 CEP152 SKI LOXL3 MYT1L DPYD UFD1 PYCR1 XYLT1 ELN SUZ12 ATR TRMT1 COL1A1 KANSL1 ACTL6B CREBBP WDR35 TGFBR1 FARSA SRCAP LIG4 KDM3B B3GALT6 C1S FBXW11 PGM3 C1R FLNB COL12A1 RBBP8 OCRL SEC24C TNXB B4GALT7 NOTCH3 ARF1 MED13 GTF2IRD1 SPART GTPBP2 COL1A2 CENPJ GTF2I DNAJC21 PTEN FGFR3 VPS13B TAB2 BMP1 RREB1 SEC23A ACTL6A TANC2 SEC24D RFC2 TMTC3 TAF1 HEPHL1 PRDM5 HIRA STAT3 CREB3L1 PIGP DLK1 ALDH18A1 ORC4 SOS2 GDF5 BCR TBL2 LMX1B DOCK3 CHAMP1 DDX6 WNT1 A2ML1 RNF13 COL9A1 MAN1B1 COL6A2 PPP2R1A ATN1 SOS1 RAF1 GP1BB ZMIZ1 NGLY1 SMARCE1 CDC6 KDM6B SON COL6A3 ARID1B PTHLH SMARCA4 KMT2D HOXD13 PYCR2 ATP6V1B2 UPF3B FBN1 COL3A1 NF1 TGDS SLC2A10 C12orf57 PLAA EZH2 HRAS LIMK1 EXOC6B CDK13 SET DHX30 CCDC8 NEPRO NTNG1 TCF20 BRAF CHST3 ENPP1 CDT1 ZNF469 NFASC TRPS1 CBL COL18A1 PLK4 RIN2 SATB2 LOX SMOC1 NLRP1 COL5A1 CFL2 MRAS CENPE PAX2 MAP1B TRAIP KIF22 JMJD1C NPR2 TLK2 YY1 SEMA5A GMNN ADAMTS2 PHIP SLC6A8 IFITM5 MAMLD1 RSPRY1 DPF2 PIGT XYLT2 CUL4B FBLN5 KMT2E DNMT3A COMT NSDHL SETD1A NFIX EED FLNA PCNT TONSL PIK3R1 EFEMP2 COL2A1 P4HTM SOX11 IFT43 CRKL SVBP PTPN11 FKBP14 BGN PKDCC RTL1 B3GAT3 WDR19 GAN SMARCD1 KCNN3 TGFBR2 CANT1 CUL7 COLEC11 SLC26A2 ABCC6 SIN3A MAPK1 PIK3CA BCL11A POLR3A KRAS LONP1 LMNA SLC39A8 ORC6 ANTXR1 COL9A3 PPP1CB NEDD4L IL1RAPL1 WASF1 EXT1 NSUN2 AMMECR1 RAB3GAP1 ERMARD RLIM KDM1A TRIP11 AEBP1 KDELR2 EP300 BPTF ARVCF MEG3 OBSL1 IFT52 SLC35A2 SLC9A6 LRP5 HNF1B OTUD6B HDAC4 PSMD12 UBE3A ARID1A VAMP1 SMS RRAS NOTCH2 ZDHHC9 TGFB3 BCORL1 EFNB1 BAZ1B CDC45 SMC1A KAT6B PIGG RYR1 NSD1 PUF60 RIT1 PHF6 TGFB2 DDRGK1 LZTR1 SMARCC2 ORC1 PIGU COL9A2 WDFY3 PTCH1 CSNK2A1 SMARCB1 P4HB TRAPPC4 CSGALNACT1 HNF4A PLOD1 GNE TMCO1 HP_HIP_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_DYSPLASIA VPS33B COMP TET3 PIGW NFIX PUF60 PIEZO2 NIN USP7 PGAP3 ATP7A HSPG2 SIL1 TRPV4 WNT5A TBX4 PGAP2 PRDM5 COG6 KMT2E ATRIP USP9X VIPAS39 CEP152 LETM1 MYT1L SMC1A HNRNPK MKRN3 THOC2 SNORD115-1 IDS ATR TRMT1 TONSL EBP UFSP2 ACTL6B CREBBP MAGEL2 ANKRD11 KDM3B B3GALT6 FBXW11 CPLX1 PCNT RBBP8 HDAC8 NDN SVBP GLI3 MYH7 SNRPN MED13 CENPJ NSD2 SLC35A3 NIPBL HOXA11 BICD2 ACTL6A MATN3 SLC26A2 TANC2 KCNAB2 PRDM16 PIGY KMT2A POLR3A OCA2 MRPS25 EP300 MECOM RERE GDF5 EXT1 DOCK3 DDX6 RLIM COL1A2 RNF13 SELENON ATN1 CTBP1 BPTF NGLY1 TRAPPC11 PWRN1 SETD5 FGFRL1 TAF1 CNOT3 SIM1 HERC2 CCDC8 WDR26 ATP6V1E1 PSMD12 DVL3 SLC2A10 SKI KCNK4 GLE1 PWAR1 PIGV PPP2R1A PPP2R3C PIGO BCORL1 COL10A1 SHPK COL2A1 PIGL MMP13 GABRD LMNA NTNG1 TCF20 CCDC47 KANSL1 SH3PXD2B DVL1 ZNF469 TRPS1 WDR19 PLK4 GMNN ATAD3A COL1A1 CENPE FZD2 IRX5 NPAP1 INPP5K TRAIP WDFY3 RAD21 ZMIZ1 MBD5 UMPS SMC3 TRAPPC4 FARS2 ARSB SNORD116-1 RAB11B ADAMTS2 TTN HP_JOINT_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SWELLING TP53 NOD2 TNFRSF11B PADI4 IL6 LMX1B STAT4 HPGD PTPN22 SLCO2A1 DDR2 AIP IL1RN GPR101 MIF IL2RA F8 CD244 COL5A2 BTNL2 RB1 ACP5 ANKH PTPN2 LACC1 ANKRD55 CD247 FGA OCRL ASAH1 HLA-DRB1 SLC40A1 OTULIN HGD FGB FGG IL10 HFE COL1A1 IL2RB CHEK2 ATP7B CCN6 COL5A1 NFKBIL1 LPIN2 SLC22A4 CIITA HP_JOINT_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_STIFFNESS CLIP2 COMP COL2A1 PADI4 SALL4 NALCN AGA TMEM43 LTBP3 SUMF1 SH3PXD2B TPM2 SKI GDF5 FLII GLRB SUZ12 VPS33A SRCAP RAI1 PLOD2 OCRL HDAC8 PTPN22 COL6A3 PNKD GTF2IRD1 GTPBP2 GTF2I DYM SETBP1 CBS L1CAM PITX1 NEK9 HFE NDE1 RNU4ATAC MMP9 TNNI2 PTEN GNPTG MATN3 RFC2 PRG4 FHL1 FGFR2 LMNA FBN2 COL6A2 MAN2B1 IDH1 EPG5 TBL2 FBN1 LMX1B DEAF1 FKBP10 GLRA1 SMAD4 SMC1A CD244 SETD5 DKK1 ADAMTSL4 NOG ERCC5 TGDS EZH2 EMD SGSH COL12A1 GUSB RAB18 RAB3GAP2 LIMK1 CYP27A1 LTBP2 HGD SYNE2 HSPG2 IQSEC2 ADAMTSL2 MYH3 NAGLU FLNA SLC22A4 NPR2 TRPV4 FUZ SMC3 MMP13 WRN ADAMTS2 VANGL1 TBC1D20 ERGIC1 CISD2 ASPN PCYT1A TBX5 UBA1 GPHN SHOX SF3B4 MYBPC1 COL11A2 EED ATRX ACTG1 LEMD3 TNNT3 PRRT2 ERCC6 PAX3 NIPBL ACTB SLC26A2 PIEZO2 KCNAB2 PRDM16 KMT2A IRF6 ZMPSTE24 ACTG2 MTX2 SLC6A5 COL6A1 ATAD1 AKT1 BANF1 IDUA KRT83 ASPA GNS RAB3GAP1 COL1A2 PLA2G6 ANTXR2 SLC16A2 BAZ1B GLB1 ELN NSD1 GABRD PTF1A HGSNAT CCN6 WFS1 IL10 ADAMTS10 HPGD FGFR3 RECQL4 MACROH2A1 ALDH3A2 FGF9 ERCC2 STING1 MECP2 BMPR1B COL1A1 EMG1 NFKBIL1 SYNE1 RAD21 PPP1R12A IDH2 ERCC1 CIITA ARSB INPPL1 RERE MFN2 PTH1R HP_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_LAXITY TMEM165 CLIP2 IFT43 LRP5 COMP UBR1 PUF60 SERPINF1 YY1 COL5A2 AP4M1 XYLT1 STRADA DDRGK1 COL6A1 IFT122 KDM6A ZNF469 MAP3K7 ALG2 DUSP6 FARSB TRMT10A TENT5A MKS1 USP9X CHST14 ACTA1 HNRNPH2 ARID1B STAC3 MAPK1 MLXIPL COL1A2 NANS FMR1 KANSL1 MAP3K20 POGZ RAI1 PLAGL1 KIF22 SOBP NSMF ADAMTS2 NSD1 MEG3 COL6A3 GTF2IRD1 DLK1 GTF2I PIK3R1 COL1A1 PROKR2 HYMAI AP4E1 FBLN5 SEC23A RFC2 SMAD3 SYT2 EP300 AHDC1 FLNB PIGP COL6A2 MSTO1 AGA TGFBR2 NKAP RYR1 MAN2B1 B3GLCT TELO2 SRCAP GFPT1 TBL2 B3GALT6 RAB3GAP2 ITGA7 FKBP10 TRIP4 DSE PIK3CA RMRP GLB1 WDR11 ADNP SNAP25 ATP6V0A2 ACAN PPP1R15B CREBBP FAT4 MCTP2 ORC1 SLC5A7 COL12A1 LIMK1 RET THOC2 SHOC2 SETD2 P3H1 GRIA3 CHAT CHD7 GATA1 CCDC47 SELENON CBL AGRN IARS1 NOTCH2 COL5A1 TPM2 ATP7A FLNA TUBB3 PROK2 MED12 EFEMP2 SLC18A3 VAMP1 RAC1 SPRY4 SLC25A1 OTX2 SIN3A PMM2 GMPPB COL13A1 TGDS FGF8 HNRNPK SLC2A10 PYROXD1 CUL4B PDE4D CDC45 PORCN EED FGFR1 GALNS TGFBR1 FBXL3 RTL1 KISS1R SKI ERMARD APC2 PIGS SLC6A9 AP4S1 HERC1 HACD1 TAC3 ALG14 EXOC6B LONP1 FGF17 AP4B1 TACR3 EFNB1 TBR1 NONO GNRHR SATB2 LTBP4 ATP6V1A CANT1 TPM3 MYL2 DPAGT1 HS6ST1 COL2A1 KCNJ2 SERPINH1 FGFR3 TCTN3 ELN ATP6V1E1 SYT1 B4GALT7 PLOD1 BAZ1B C12orf4 MYO9A DLG4 PIGG STAG1 SLC39A13 ANOS1 PAX2 DCHS1 C1R DDX3X GNRH1 WDR35 DCPS NPR2 GATAD2B CSGALNACT1 KISS1 MRE11 TBL1XR1 HP_ABNORMALITY_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LIVER LYST NOD2 AP1B1 WDR35 CLIP2 CR2 NDUFS4 CYP7A1 TUFM UBR1 LYRM4 TPO PCSK9 GUCY2D AXIN1 C11orf95 PEX5 AGA JAK2 IFT122 RMRP KCNH1 HLA-DRB1 CCDC115 BRCA1 PMS2 LARS1 PEX12 BCS1L CTLA4 ACOX1 TTC37 KRAS NDUFV1 ATP7B RAG2 NPHP3 TCF3 BTNL2 DIS3L2 RTEL1 NOTCH2 MMACHC EOGT IFT27 GPI HNF1A HNF4A PEX6 CTNS NOTCH1 CEP55 IDS NPC2 PRF1 ARSA KRT18 SLC29A3 SP110 CD3D PIEZO1 ABCC8 IFT172 NSD2 DHCR7 CBS FANCM HYMAI SLC25A13 PEX10 RNU4ATAC IL18BP ERCC4 RPGRIP1L DYNC2I1 MSH6 BSCL2 CLDN1 MET VPS13A FUCA1 SCNN1G MT-TV PHKA2 FOXF1 DCDC2 EPCAM ALG8 FDX2 IL7R ABCB4 JAK3 MLH3 TMEM107 ASS1 TBL2 SPTB POLG2 IRAK4 ALG9 NCF2 GPC3 G6PC PEX26 ATP8B1 GLB1 PEX16 XRCC2 SOS1 GP1BB EPB41 POU2AF1 NELFA SLCO1B1 TGFB1 SDHD PKLR DYNC2I2 NHP2 APOE BICC1 MKS1 CFTR GAA HBG2 GLRX5 SKIV2L TREX1 NDUFA1 TMEM67 ERCC1 LACC1 NEK8 GUSB ERCC8 FASLG LRRC8A SLC22A5 LIMK1 SHPK SLC20A2 DNASE1L3 NHLRC2 KIF20A PEX3 UQCRFS1 CORIN UGT1A1 POLG COG7 PCCB SLC44A1 STEAP3 LBR SPECC1L EWSR1 DCLRE1C TMEM70 SNX10 CARS2 RAD51 TNFRSF1B DMPK DKC1 TNFSF11 CYP7B1 SPINK1 CIITA HMGCL TNFRSF13C ENG TET2 TNNT2 VPS45 NDUFAF1 CIDEC TTC21B RECQL4 MVK GDF2 PIGA FANCD2 COMT MYPN INS MYBPC3 KRT8 TSC2 HADH ANKS6 APC MADD POMC SLC30A10 MED25 POLD1 GLIS3 PSAP RAG1 ABCG8 ENPP1 TCTN2 EIF2AK3 NKX2-5 PIGS MT-ND2 CEL IL36RN PFKM FERMT3 TNFRSF11A PEX2 BBS9 TARS2 MPC1 ABCC2 BRCA2 AUH IQCB1 GBA RFXANK XIAP PEPD PRKCSH IL12RB1 MPV17 HBB CDIN1 SLC25A20 PKD1 HMBS XK HPD MMAA IGF2R FBP1 RNF43 SERPINA1 TNNI3 LIPA PNPLA2 PDGFRB ATP7A CYBB ANK1 ACADM NSD1 EPB42 RAC2 KCNJ11 RNASEH2A LHX3 TTC7A FANCC LDLR SLC26A4 NFKB2 IGLL1 STOX1 NBAS RRAS MT-ND5 DLD RUNX1 CLPB ELN NPHP1 FOS FGFR2 TNPO3 RIT1 SPRTN IFT80 COG4 AMACR NOP10 WDR19 DDRGK1 SC5D GATA6 DPAGT1 SCARB2 TRMU MAD2L2 SDCCAG8 LPL FECH TTC8 LMNA NAGA BMPR1A CD79A ADA TMPRSS6 CASR NCF4 COA8 SFTPC INPPL1 RERE MFN2 APOA1 KIT VPS33B CLCA4 NDUFA11 PEX11B STK11 SMPD1 SBDS HPGD CPOX ERCC6 CD19 DCTN4 DNAJB11 COX14 SLC25A15 SUMF1 FCGR2A HBG1 RRAS2 CAVIN1 TIMMDC1 CD96 CDKN1B SPTA1 FAS GALM USP9X NDUFS6 MUC5B UFD1 TCIRG1 SLX4 SMAD4 TERT FARSA PLAGL1 BBS1 GNAS ITCH ADK TRIM28 FAN1 DUOX2 TNFSF12 TBX19 HAMP OCLN HK1 GTF2IRD1 CD55 ETFB PC MYORG DHDDS CAV1 ESCO2 CASP8 SRSF2 RFC2 PALB2 SLC25A19 NR1H4 LIG4 PEX13 PEX14 RBCK1 B9D1 XYLT1 TYMP LIPE GALT LPIN2 ADAR PMM2 CYBC1 ALDOA ASXL1 SLC37A4 FLI1 NLRP3 RFX5 CTRC ACVRL1 CD3E SON CEP290 CNOT1 CD70 CYBA NAGS PEX1 PTRH2 REST IDUA PHKB INSR MT-ND6 AKT2 RFT1 ASAH1 ABHD5 BOLA3 TNFSF15 MT-TL1 SETD2 ZAP70 GATA2 EFL1 HADHA PDX1 MT-ATP6 VHL PSMB9 RHAG PLPBP FANCE NDUFS3 NSMCE2 ADAMTS13 COX15 NEUROD1 RIPK1 ALDOB LCAT NAGLU ZIC3 MRPS28 PLEKHM1 CBL MRPL44 JMJD1C MT-CYB HSD3B7 SLC40A1 STN1 NDUFV2 PROP1 SAA1 SLC7A7 ETFA IL12A TP53 MMUT DLL4 CD28 CYP19A1 TPP2 HBA1 EARS2 MEFV GCGR TMEM231 DGUOK EXTL3 DNAJC19 RHBDF2 LDLRAP1 DZIP1L F5 USB1 ABCA1 CC2D2A MMAB NDUFS1 MPI IGF2 PSTPIP1 NDUFS8 PSMB4 POU1F1 MOGS CCDC28B CD247 SLC13A5 HYOU1 BLVRA GALK1 JAM2 PRDM16 SH2D1A IL2RA CEP120 MLH1 MTX2 AGPAT2 TPI1 PIGM FANCF PEX19 AP1S1 XRCC4 TINF2 NDUFB9 PIK3CA HFE UNC13D NDUFAF4 UCP2 SLC4A1 NDUFS7 ARVCF IER3IP1 WDPCP RINT1 TSC1 HJV ADA2 PPARG CPT2 RRM2B SLC2A1 TALDO1 BAZ1B MPL TMEM216 FANCL KCNQ1 NGLY1 KCNQ1OT1 MCM4 RMND1 CA2 GNE NPC1 CTNNB1 GCDH ACADVL IFNGR1 SEMA4A UQCRB CLCN7 PDGFRA DPM1 RBM8A SLC25A4 ICOS RNASEH2B STAT1 IFT43 GCLC IFIH1 CASK PCK1 ARL13B IL2RG PRKAR1A TBX1 PRPS1 FARSB ABCG5 TRAF3IP1 HSD17B10 SAMHD1 NCKAP1L IFT140 CPT1A RPGRIP1 PCCA MLXIPL SLC35C1 RAB27A HBA2 AGGF1 B2M HMGCS2 CPLX1 SEC24C GALE RBPJ PTPRC PSMB8 CD81 NEU1 GTF2I SETBP1 LHX4 NDUFB10 DHFR COX4I2 PRKCD KIF3B PALLD ALG2 SLC17A5 MRPS7 PDGFB SOS2 CHD7 B3GLCT ALAS2 MCCC1 BMPER TRIM37 STXBP2 SNX14 IGHM MT-ND1 RELA INPP5E GFM1 TSHR TRAPPC11 NDUFAF2 PCK2 PRSS1 ARHGAP31 DYNC2H1 LMNB2 DAXX G6PD HADHB KLF1 ATP6V1B2 CTSK PHKG2 DYNC2LI1 SGSH C8orf37 MT-ND3 APPL1 MS4A1 FAH CYP27A1 TRIP13 NLRP1 ASL RASGRP1 NDUFAF3 AIRE CCDC47 MSH2 INTU ADAMTSL2 CDKN1C CTC1 NFKB1 IARS1 ARL6 SCO1 RNASEH2C CEP83 ALMS1 MRAS NDUFA6 PKD2 XPR1 MT-TK APOC2 FLT1 TRAF3IP2 SLC5A5 RFXAP BPGM GNPTAB ABCB11 TERC MIF LETM1 FOXRED1 SPIB COG5 VIPAS39 COG8 KLF11 MTRR CPA1 SDHB PTPN3 GBE1 MMEL1 C1QBP GPC4 TMEM126B STAT3 BLNK TWNK SLC39A8 GCK ETFDH TRIM32 BBIP1 MYC AKR1D1 CTSC SRP54 AHCY OSTM1 ATP6AP2 KCNN3 CTCF KCNAB2 POLR3A LONP1 YARS2 ANTXR1 NUBPL SCNN1B BTD HNRNPA1 TRHR HSD17B4 SLCO1B3 SLC11A2 NPM1 MT-TW NCF1 MAN2B1 DDOST BTK INVS IL1RN FLNC SLC25A1 ABCC6 GPD1 HESX1 TFAM CD27 ACP5 IL17F PKHD1 DPM2 JAK1 CD40LG KCNN4 LRP5 CTSA IRF5 GABRD TNFRSF13B SDHC FAM111B MAGT1 ACAD9 UBE2T SDHA PARS2 LTBP3 KPTN LRPPRC MECP2 TSFM WT1 TCF4 BLK PCSK1 PIK3C2A FOXP3 SPOP NDUFS2 PPOX BCHE SCYL1 TMEM165 MT-ND4 IL6 VCP SEC63 LYZ LZTFL1 SCNN1A HNF1B SFTPA2 NRAS RASA2 COG6 AP3D1 VPS33A PYGL TKFC PLIN1 PRSS2 TG FANCB STAT6 HEXB CDKN2A TJP2 MARS1 BBS10 GPIHBP1 RREB1 DNAJC21 USP18 ABCD3 CD79B CALR TRMT5 HIRA ERBB3 TNFRSF1A CDAN1 PAX8 TSHB FBN1 JAM3 ATP6AP1 SLCO2A1 IFNG A2ML1 FANCI COX5A ARG1 CASP10 RAF1 CEP164 HMOX1 NEUROG3 SOX10 COG1 RAD51C MT-TN C1S H19 SKI GANAB DUOXA2 NDUFAF5 ALDH7A1 BBS7 PGM1 POU6F2 SF3B1 ATRX NDUFB11 NDUFB3 CLEC7A STX11 ALG1 WRAP53 AGL MT-TE DLK1 UROD ACAT1 MST1 GYPC SEC23B SURF1 MYRF TGFBR2 RFX6 IL2RB ATPAF2 ATP11C GPC1 STX1A IYD PAX4 BRIP1 FADD JAG1 CEP19 GALNS ALG13 TKT FGA UROS PTPN11 SLC39A4 APC2 IL17RC MKKS AP3B1 BBS5 MEG3 KRIT1 B9D2 ACADS MRPL3 PARN BBS4 BMP2 RTL1 PNPLA6 TF APOB GPR35 CCND1 BBS12 GNS ATAD3A C4B IL17RA LMBRD1 FH NEK1 CTBP1 HAVCR2 PMS1 HOXD13 SAR1B FGFRL1 DOCK6 DOLK G6PC3 SLC2A2 NPHP4 IL21R GNMT CSPP1 MYD88 HNRNPA2B1 RPS20 HGSNAT KMT2E LZTR1 TMEM199 RFWD3 NDUFAF8 PIK3R1 FANCG PDGFRL NAB2 FANCA COG2 MTTP PTEN OFD1 TFR2 ARSB CP BBS2 ITK HP_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIRRHOSIS UROD RPGRIP1L IFT43 MST1 IL12A SMPD1 DLL4 PPARG BCS1L LBR ENG CC2D2A AXIN1 PYGL GBA JAK2 ABCB11 SMAD4 TERC TALDO1 ALMS1 FARSB CCDC115 SFTPA2 F5 TTC37 PIGA SERPINA1 ATP7B HBB COG6 SPIB PIK3CA GPC1 RTEL1 MUC5B KRT8 EOGT APC BSCL2 TP53 POLG TERT GBE1 MMEL1 HFE SLC30A10 NOTCH1 DGUOK JAG1 USB1 NPHP3 ITCH KRT18 ACVRL1 RBPJ CAV1 AKR1D1 MARS1 AP1B1 ATP6AP2 MPI TMEM67 ABCB4 AP1S1 CASP8 SRSF2 LIPA TRMT5 KIF3B SLC25A13 PARN TET2 BMP2 MET NR1H4 AGPAT2 PHKA2 GPR35 GDF2 IL12RB1 MPV17 TYMP GALT SLC7A7 ASS1 TINF2 NPM1 ATP6AP1 ASXL1 IGF2R ATP8B1 ARG1 INPP5E NGLY1 POU2AF1 NHP2 ARHGAP31 TFAM DOCK6 HJV APOE IL21R COG4 PEX1 RRM2B PHKG2 CD40LG GLRX5 SKIV2L TREX1 RUNX1 ABHD5 FAH FOS IRF5 TNPO3 TNFSF15 SLC40A1 DCDC2 AMACR NOP10 CAVIN1 CYP7B1 SCARB2 PDGFRL HAMP CTC1 ALDOB WRAP53 CTNNB1 FECH MTTP CBL HSD3B7 DKC1 SFTPC TCF4 TFR2 HP_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FIBROSIS SCYL1 RPGRIP1L WDR35 MST1 IL12A NOP10 DLL4 PKHD1 CC2D2A ARL6 WDPCP NPHP1 LZTFL1 PYGL TMEM216 TMEM67 IFT122 ALMS1 PMM2 TRAF3IP1 IFT172 TTC37 TMEM231 SPIB GPC1 RPGRIP1 EOGT IFT27 ANKS6 PLIN1 MMEL1 DZIP1L NOTCH1 BBS1 CEP55 FADD DGUOK CEP290 HBB IARS1 NPHP3 GLIS3 MPI TCTN2 RBPJ TRIM32 BBIP1 HAMP GBA CCDC28B BBS10 MKKS BBS5 BBS9 ABCD3 AP1S1 B9D2 SLC25A13 KIF3B BBS4 PNPLA6 IQCB1 PHKA2 DCDC2 GPR35 IL12RB1 IFT140 DYNC2I1 B9D1 ASAH1 TMEM107 BBS12 INVS ALG9 INPP5E NEK1 GPD1 LIPA CEP164 POU2AF1 ARHGAP31 DYNC2H1 DOCK6 DOLK RINT1 MKS1 DYNC2I2 NHP2 NPHP4 PEX1 PHKG2 CSPP1 WDR19 SKIV2L TALDO1 NEK8 C8orf37 INSR CTNNB1 ABCB4 MET IRF5 TNPO3 TNFSF15 ASL SLC40A1 BBS7 IFT80 SDCCAG8 PTRH2 AGL MTTP TTC8 HJV OFD1 TCF4 CYP7B1 BBS2 HP_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTASIS LYST VPS33B ANK1 RNASEH2B AP1B1 PEX11B GCLC CYP7A1 UBR1 CASK CPOX LYZ TPO ARL13B ATP7A PEX5 NR1H4 PRPS1 FARSB CCDC115 BCS1L CDKN1B SPTA1 EPB42 HBB COG6 GALM SAMHD1 SLC4A1 NOTCH2 MMACHC GPI PEX6 PRSS2 RAB27A B2M SLCO1B3 TG NPC2 PRF1 NPHP3 GNAS PEX2 KRT18 GALE ACADVL ADK DUOX2 HADHA TBX19 SP110 CDKN2A OCLN PIEZO1 SMPD1 HK1 TJP2 ETFB DHCR7 RHAG LHX4 ABCC2 GALK1 SLC25A13 PKHD1 DHFR RNU4ATAC IL18BP COX4I2 ABCB4 ABCD3 IL2RG PALLD CLDN1 CDAN1 PHKA2 PEX1 DCDC2 IFT140 PAX8 ASAH1 ADAR TSHB SPTB ALDOA ATP6AP1 PEX26 ATP8B1 ARG1 GFM1 PEX16 TSHR EPB41 FLI1 PEX13 POU2AF1 CTRC SLCO1B1 CASR PRSS1 G6PD NEUROG3 HADHB PKLR PHKG2 GLRX5 NEK8 INSR CFTR DUOXA2 AKR1D1 CYP27A1 SHPK TNFSF15 SETD2 UGT1A1 PEX3 POU1F1 CYP7B1 ADAMTS13 COG7 STX11 SLC44A1 ALDOB RNASEH2C CEP83 BRCA2 AMACR HSD3B7 SLC5A5 IFIH1 PEX14 PROP1 SAA1 TREX1 SPINK1 ETFA MST1 IL12A GYPC TP53 LBR PEX12 SEC23B BPGM ABCB11 EARS2 RFX6 F5 IFT172 TTC37 EIF2AK3 SPIB ATP11C PALB2 VIPAS39 GPC1 PEX19 ALG8 ANKS6 CPA1 IYD PTPN3 MMEL1 POMC DZIP1L SLC30A10 DGUOK JAG1 IARS1 ETFDH GLIS3 FGA NKX2-5 APC2 POLG2 BLVRA SC5D ATP6AP2 PFKM PEX10 CTCF AP1S1 LIPA TPI1 PEPD GPR35 IL12RB1 TRHR MPV17 HSD17B4 CDIN1 SLC2A1 BRCA1 KRAS FH SERPINA1 RNASEH2A IER3IP1 HESX1 TFAM NSD1 RINT1 HNF1B JAK2 LHX3 HMGCL PRKAR1A SLC26A4 KCNN4 NBAS GALT KRT8 IRF5 TNPO3 KMT2E DPAGT1 HBG2 PARS2 ATP7B WDR35 TRMU NPC1 LPL SMAD4 TMPRSS6 TCF4 PCSK1 TRAF3IP1 HNF4A SPOP APOA1 HP_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FAILURE SCYL1 RPGRIP1L PEX11B MST1 IL12A MT-ND4 NDUFS4 SMPD1 UBR1 PCK1 CC2D2A PEX12 NHLRC1 SLC25A15 IFT122 SMAD4 TERC COQ2 ALMS1 CCDC115 LARS1 F5 IFT172 TTC37 EIF2AK3 ATP7B SPIB BTNL2 CPT1A SLC25A20 RTEL1 PEX19 FAH HADH EPM2A POLG GBE1 PEX6 MMEL1 F13A1 DGUOK JAG1 TERT USB1 IARS1 PEX2 ITCH OTC MPI SP110 PTPN22 AKR1D1 TJP2 POLG2 CEP164 MT-ND2 HFE SC5D OSTM1 ENG MRM2 PEX10 IL18BP ABCD3 LIPA PARN SH2D1A NR1H4 ALDOB PEX16 MRPS7 RYR1 ALG9 MT-TV GBA XIAP GPR35 GDF2 IL12RB1 F13B MPV17 ASAH1 SLC7A7 TINF2 ALG1 NPM1 MT-TW TMEM67 PEX5 PEX26 FH MT-ND1 SERPINA1 CPT2 INPP5E GFM1 PEX13 POU2AF1 FECH PCK2 ACVRL1 TFAM DAXX RINT1 MT-TT CACNA1S HADHB JAK2 SLC2A2 IL21R COG4 NBAS MT-ND5 HLA-B GALT ACAD9 MT-ND6 MEFV IRF5 TNPO3 TNFSF15 MT-TL1 MT-ATP6 HLA-DRB1 NOP10 CYP7B1 ALG6 ATRX CYC1 ALG8 CTC1 HADHA PEX1 TRMU WRAP53 PORCN NPC1 PEX3 DLD MT-ND3 NHP2 MOGS AMACR HSD3B7 MT-TK TCF4 DKC1 PEX14 IKZF1 HP_HEPATOCELLULAR_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_CARCINOMA UROD MLH3 MST1 IL12A SLC37A4 SLC25A13 HMBS PIK3CA HFE G6PC IGF2R AXIN1 PYGL JAK2 ABCB11 CASP10 CPOX PMS1 TGFBR2 PMS2 POU2AF1 SERPINA1 KRAS ATP7B HBB FAS SPIB SLC2A2 FAH APC TP53 MMEL1 F5 JAG1 IRF5 TNPO3 TNFSF15 FAN1 RASGRP1 SPRTN RPS20 TJP2 IGF2 AHCY PDGFRL CASP8 PRKCD MSH6 CTNNB1 BMP2 MET SEMA4A BMPR1A MSH2 MLH1 TCF4 GPR35 IL12RB1 EPCAM FASLG PPOX HP_MACROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROVESICULAR_HEPATIC_STEATOSIS CPT2 RRM2B MTX2 CYP7A1 NDUFAF1 TRMU EARS2 POLG MPV17 VPS33A TYMP HP_PERIPORTAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPORTAL_FIBROSIS ALG9 DZIP1L PKHD1 GPC1 DGUOK HP_HEPATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_CYSTS NPHP3 PKD2 GANAB PKD1 WDR19 SEC63 EXTL3 PKHD1 TSC1 TSC2 BICC1 TTC21B IFT122 DNAJB11 JAK1 OFD1 ALG8 LRP5 HP_BILE_DUCT_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILE_DUCT_PROLIFERATION ABCB4 NPHP3 RPGRIP1L CEP290 WDR35 CC2D2A GPC1 TMEM216 POLG TMEM67 DCDC2 MKS1 PHKG2 FARSB HSD17B4 HP_MICRONODULAR_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRONODULAR_CIRRHOSIS PDGFRL ABHD5 CASP8 KRT8 KRT18 KIF3B PIK3CA CTNNB1 MET IGF2R APC AXIN1 TP53 POLG ARG1 SLC30A10 TREX1 TALDO1 ATP6AP2 NGLY1 DGUOK HP_MICROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROVESICULAR_HEPATIC_STEATOSIS MRPL44 POLG TFAM ACAD9 TRMU DNAJC19 NGLY1 MPV17 LRPPRC BCS1L CARS2 HP_X_LINKED_RECESSIVE_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_RECESSIVE_INHERITANCE GRIA3 CASK OTC PAK3 NDP MBTPS2 PDE6G STAG2 NEXMIF IL2RG ARX ARSL ATRX AIFM1 AP1S2 SLC9A6 F8 NAA10 OPN1MW FLNA ROM1 MID1 AFF2 SMC1A IDS OFD1 AR MAOA MECP2 RPL10 FRMPD4 DLG3 USP27X IGSF1 SLC9A7 MAMLD1 EMD FANCB CCDC22 KIF4A PRPS1 XIAP DMD SYP IGBP1 ZIC3 ARL6 ATP6AP2 ABCB7 NKAP KDM5C AIPL1 CLCN5 RBMX L1CAM ATP6AP1 GPC3 CRX GPC4 DNAAF6 MED12 PHF6 BTK G6PD RPGR FHL1 TMLHE ATP7A GATA1 FGF16 AVPR2 PLP1 FTSJ1 POLA1 RAB39B THOC2 MTM1 FRMD7 TLR7 ARHGEF9 CYBB SYN1 NDUFA1 LAGE3 GK GJB2 PGK1 FAM50A EBP POF1B GLA PHKA1 PHKA2 MAGT1 EIF2S3 GPRASP2 WAS HPRT1 PIGA NR0B1 UBA1 SLC6A8 USP9X COL4A6 ATP11C RLIM NYX NSDHL CUL4B UBE2A CLCN4 OGT IKBKG GJB1 TAF1 SSR4 TSR2 ALG13 RBM10 EDA LAS1L BGN LRAT MAGED2 OPN1LW UPF3B GJB6 ABCD1 PQBP1 RS1 VMA21 SLC16A2 SH2D1A STS CLRN1 IGF2 TAZ ANOS1 CHRDL1 IL1RAPL1 BCAP31 PTCHD1 AMMECR1 POU3F4 C8orf37 FGD1 F9 IQSEC2 NONO PHF8 GPR143 CACNA1F CNGA1 TRAPPC2 CLIC2 BRWD3 DDX3X GPR179 CD40LG HCFC1 SMS OPHN1 TEX11 IRS4 BCORL1 CFP MSN RBP3 OCRL HS6ST2 SH3KBP1 MID2 ZC4H2 ATP2B3 DKC1 TIMM8A KLHL15 FOXP3 TSPAN7 ALAS2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND AK9 MUSK SPG11 REEP1 CHRNA1 GMPPA FGFR2 CHRND BSCL2 MFN2 SALL4 TRAPPC11 GARS1 SQSTM1 VCP NEB TSR2 PDK3 DCTN1 RPS17 TBX5 RPL11 ACTA1 MYH7 RPS19 KANSL1 CHRNB1 TIA1 GDAP1 FLNA COL13A1 POLG SLC52A3 SVBP ADA2 RPL35A RPS10 RPL35 RPL15 RPS7 AGRN RAPSN NEFL RPL31 BICD2 COLQ DYSF HARS1 FBXO38 FGF10 TK2 AAAS FXN LRP4 HOXA13 CHRNE TRPV4 CAV3 SCN4A RPS24 GATA1 GNE RPL26 RPS26 RPS28 LAMB2 MAP3K7 HINT1 RPS29 RPL18 SLC25A21 DOK7 STIM1 RYR1 SLC39A13 ALS2 NGLY1 LDB3 FLNC RPL5 KLHL9 PLOD3 FGFR3 PNPLA2 RPS27 RPS15A FBXW11 MORC2 RPL27 HP_X_LINKED_DOMINANT_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_DOMINANT_INHERITANCE FLNA PLS3 ALAS2 NDUFS4 CASK HCCS COX7B NEXMIF NDUFB11 KDM6A IQSEC2 CDKL5 HDAC8 SMPX NHS SLC35A2 HDAC6 MECP2 CCNQ AMELX BCOR FHL1 NAA10 COL4A5 G6PD PDK3 ACSL4 SMC1A HNRNPH2 LAMP2 USP9X AMER1 DDX3X FMR1 CLCN4 DIAPH2 PORCN GJB1 RNF113A IKBKG ALG13 SRY FRMD7 EBP MSL3 ATRX NSDHL CHM ZC4H2 GDI1 SYN1 WDR45 HSD17B10 PDHA1 EDA UBQLN2 GPR101 RPS6KA3 OFD1 PHEX EFNB1 HP_HETEROGENEOUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROGENEOUS ACTA1 COMP H19 TP53 AXIN1 NQO2 AKT1 GLUD1 ENAM COMT KCNE2 ABCA3 LMNA KCNJ1 HNF1A A2M TPM2 BSCL2 MID1 GAD1 MCCC2 CTSC LITAF MT-ND5 SOD1 AAGAB PRKAR1A NPC2 CASP8 NOD2 ACVRL1 SYN2 DHH KCNQ1 CACNB4 USH1C HCRT GDF6 NSDHL NLGN3 CHI3L1 DNM2 IL6 POMT2 MT-ND2 DNAI1 DAOA SDHA RB1CC1 ABCB4 RPGRIP1L FGFR1 MET TGFB3 JPH1 GABRG2 MT-ND6 MAPT PALB2 PEX1 DRD3 LAMB3 TGFBR2 COL9A2 SNAI2 KCNJ18 HPS1 IGF2 LAMA3 EDAR DSP MCCC1 CHRNA2 DYSF ATP1A2 RTN4R EYA1 ATL1 ZMPSTE24 RP1 ERCC6 NLGN4X PRPH POLG GPC3 ALG10B CHAT ADGRV1 SELENON TMEM216 SUFU BSND MT-ND4L MT-TN ITGB4 RAD54L YARS1 ORC1 TMEM67 AVPR2 KRT16 KRT86 ERCC8 HSPB1 HTR2A MECP2 MT-ATP6 RAD51 FRMD7 APP KIF1B TNNI3 SNRPN MT-ND4 BRCA2 POMT1 KRT83 SMAD7 SOX10 ADAMTS13 MT-CO3 IQCB1 KCNJ11 PITX2 MYO7A NEB KRT17 CLCNKA VSX1 SH3TC2 MTHFR PTCH2 ESR1 TPM3 HSPB8 PRX SLC22A18 KIF7 CLCNKB EDARADD MPZ SBF2 FKTN PMP22 PLAU COL4A4 ABCC8 NHLRC1 PPM1D SURF1 PIK3CA WT1 ITPR3 NPHP1 GDAP1 CRELD1 MT-CYB HMMR INSR WNT3 SLC25A4 FOXC1 HFE JUP APC APOL2 EDN3 MYH7 SCN5A CACNA1A MRPS16 GPC4 TGFBR1 FGD4 PTPN22 BARD1 DSG2 IFNG EDA ATM BRIP1 FRZB SLC25A38 KCNE1 KRIT1 ANK2 AQP2 NEFL CFTR GCH1 RYR1 PSEN1 PTCH1 DCTN1 PRKAG2 AHI1 SFTPB KCNH2 LARGE1 PHB CENPJ EGR2 APOL4 CCM2 CYP1B1 HADH IGF2R SLC12A1 CLCN7 CDH1 EP300 TCIRG1 MATN3 IHH SPTA1 BRCA1 XRCC3 COL4A3 IRF6 COL4A5 CREBBP ELN TNFRSF11A NPHP4 GCK AGPAT2 COL9A3 CAV3 EPM2A MITF SIX1 FBLN5 MTMR2 FGF14 LAMC2 KRAS EDNRB NOS3 COL17A1 SIX3 CACNA1S MLPH KCNQ2 KRT81 CHEK2 LRP5 MPO PDGFRL MT-ND1 NPC1 CTNNB1 CACNA1F TSC2 NEFH HLA-B FKRP MBTPS2 MSX2 ADCY10 POMGNT1 HP_MULTIFACTORIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFACTORIAL_INHERITANCE ALOX5 SLCO1B3 POMC CFH ADRB2 AGTR1 UCP3 ADH1C COL2A1 NLGN4X FLT3 BAX CYP3A5 NEK1 GHRL GDF6 BMP4 ALOX5AP PLA2G7 ADD1 HLA-DRB1 NBN IRF6 ADRB3 SHANK3 SCGB3A2 CST3 DYNC2H1 SLITRK1 A2ML1 SLCO1B1 PTGIS SERPINH1 ADH1B NUP214 ABCG8 PPARG TAL1 PRKCH GJA1 CCL11 ECE1 NOD2 TP53 F2 BRCA2 SDC3 SNRPN TAL2 HNMT FRZB SCN5A HLA-C CARTPT GJB3 ENPP1 NR0B2 NLGN3 GDF3 NOS3 IL6 BRCA1 HTR2A GJB6 AGT MUC7 TNF HLA-G IL13 SMCHD1 STOX1 AGRP HLA-B GABRA2 GNB1 BCR NLRP1 PDCD1 PAX4 GNB3 F5 GJB2 HLA-DQB1 APOL1 HP_MITOCHONDRIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_INHERITANCE NDUFS4 MT-TF MT-ATP6 MT-TL1 MT-TI MT-ND4 MT-TC MT-TS2 MT-CYB MT-TT MT-TK SURF1 TRMU MT-CO2 MT-TW MT-CO3 MT-ND1 MT-ND2 BCS1L CHKB SDHA MT-ND5 MT-ND4L MT-CO1 MT-TN MT-ND6 MT-TV MT-TP FDX2 MT-TQ HP_SOMATIC_MUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MUTATION H19 TP53 WT1 KRAS PICALM AXIN2 PIK3CA AXIN1 NQO2 AKT1 PAX7 JAK2 CDH1 FGFR1 AIP NRAS TSC2 ARHGAP26 PDGFRA ASXL1 CDC73 PTPRJ FGFR3 CASP8 PRCC SF3B1 ABL1 DLC1 RB1CC1 RPS14 MSR1 BRCA2 APC MET POU6F2 CHIC2 NUP214 RB1 AR GNB1 BCR PALB2 HRAS RARA ARMC5 IGF2 KLF6 AURKA TSC1 MYD88 SMARCB1 FLT3 KIT GPC3 LIG4 STK11 NBN RAD54L BAX MLH3 EWSR1 BUB1 TET2 NEK9 SUFU TFE3 RAD51 KIF1B SRC RUNX1 DNMT3A LZTS1 CBL ESR1 LPP SLC22A18 TAF15 CEBPA NF2 CBFB PTPN11 PDGFRL CHEK2 CALR WWOX PPM1D NF1 SLC35A2 HMMR HDAC4 CTNNB1 RNF6 MYC SSX1 MSH6 PIGA GPC4 NPM1 TGFBR2 BARD1 ATM BRIP1 MINPP1 FLCN PAX6 BUB1B PLAG1 TERT CTHRC1 ASPSCR1 PHB MCC CCND1 IGF2R MSH3 EXT1 MLLT10 SSX2 ETV6 DCC BRCA1 XRCC3 PIGT DICER1 RHOA PAX3 C1GALT1C1 MPL NR4A3 SH3GL1 ASCC1 MXI1 TAL1 IL6 SMAD4 ZFHX3 PTCH2 BCL10 TAL2 PRKN MTOR PTEN SRGAP1 FOXO1 PLA2G2A GATA2 RAD54B NUMA1 GNAS ERBB2 SMO TLR2 PTPN12 EP300 ADA OPCML MAD1L1 CREB1 SH2B3 IDH1 HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE FRG1 MATR3 AAAS PLEC ANO5 SGCG FKRP CAV3 TTN DAG1 TPM3 GMPPA POMT2 MYL2 ITGA7 CRPPA FBN2 DPM3 TRPV4 TRAPPC11 POMGNT1 MAP3K20 PPARG FHL1 MTMR14 SGCB ACTA1 DMD CAPN3 POMT1 POMK MYH7 GMPPB HINT1 PLIN1 KCNA1 LARGE1 AR FLNC SLC25A1 DHX16 LMNA LAMA2 POMGNT2 DNM2 TRIM32 SGCA CIDEC SELENON SGCD MYF6 KLHL9 HACD1 DYSF RYR1 BIN1 PMP22 TPM2 VPS13A FKTN LIMS2 SACS TCAP POPDC3 DES LTBP4 CHCHD10 WASHC5 HP_HEPATOSPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOSPLENOMEGALY ZAP70 TREX1 RNASEH2B STAT1 MST1 GCLC TP53 TET2 TCIRG1 MVK TALDO1 ALMS1 CCDC115 HBB RAG2 SAMHD1 NCKAP1L PALB2 COG5 RNASEH2C RASGRP1 IDS VPS33A RAB27A GBE1 PLEKHM1 DZIP1L STAT3 FARSA SLC29A3 IARS1 PRF1 HEXB ITCH PSAP SP110 PSTPIP1 CD3D GBA CDKN2A NEU1 CD247 AP3B1 SLC25A13 PKHD1 GALK1 FERMT3 MEG3 PEX2 CAV1 RAG1 CALR KIF3B FGFR2 PALLD RTL1 IL2RA JAK2 NPHP3 GPR35 GNPTAB ASAH1 MAN2B1 JAK3 SLC7A7 ADAR IDUA IL7R SLC2A1 LYST XK ALG9 STXBP2 BRCA1 IFNG SNX14 KRAS UNC13D RNASEH2A PRKCD SLC4A1 NLRP3 LIPA HAVCR2 RNU4ATAC CD27 CD3E RAC2 CD70 COG1 COG4 ADA2 JAK1 GLRX5 CTSA CYBC1 SC5D MPL ABCA1 CA2 STEAP3 LBR COG2 LPL KPTN BRCA2 CLCN7 SCYL1 IFNGR1 LPIN2 SMAD4 DLK1 TCF4 GNE TNFSF11 IFIH1 RBM8A HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE MYBPC1 AK9 MUSK CHRNA1 DNM1L VCP FKRP HNRNPDL PAX3 CHRND TMEM43 TRPS1 SALL4 TRPV4 REV3L ALG2 TTN SEPTIN9 ATP6V0A2 GMPPB FHL1 MYMK ACTA1 MYH7 RRM2B PYROXD1 RYR1 PSAP TPM3 TBX5 TK2 CHRNB1 POGLUT1 TNPO3 MAP3K20 TWNK FLNA COL13A1 POLG TRIM32 SQSTM1 NEB PAX1 POMT2 BICD2 CUL7 SGCG KBTBD13 HACD1 CAPN3 AGRN RAPSN ALG14 SMCHD1 MATR3 BIN1 COLQ SPEG BRAF DYSF PTPN11 LMNA FRG1 C19orf12 GFPT1 KLHL41 DMPK ANO5 LRP4 PLXND1 MYL2 DPAGT1 ITGA7 CHRNE CRPPA ALX1 SCN4A LGI4 OBSL1 GNE KCNJ2 MYH2 LAMB2 EYA1 FLNB MAP3K7 ALX3 POLG2 OPA1 EMD DOK7 ABHD5 GYG1 SYNE2 MYPN SGCA CCDC8 SGCD SELENON TPM2 RAF1 MYOT SGCB TBX3 PNPLA2 DNAJB6 SYNE1 MT-TE GALC CSGALNACT1 RBM8A SLC25A4 COL12A1 HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE MYH7 MYF6 GNE KLHL9 MTMR14 BSCL2 RYR1 BIN1 DNM2 HNRNPDL HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS ANO10 FKRP CAV3 GMPPA HNRNPDL TMEM43 DNAJC6 FBN2 PODXL RASA1 TRPV4 TRAPPC11 POMGNT1 MAP3K20 VCP FHL1 MTMR14 BSCL2 REEP1 ACTA1 POMT1 MYH7 GMPPB PLIN1 LARGE1 AR KIF1A ANO5 SLC25A1 CLCN1 LAMA2 TRIM32 CIDEC POMT2 SGCG MYF6 HACD1 SPAST DARS2 RYR1 PMP22 DMD VPS13A LIMS2 KIF5A SACS TCAP POPDC3 DYSF LTBP4 SRY CHCHD10 WASHC5 LMNA FRG1 MATR3 AAAS PLEC TTN DAG1 TPM3 MYL2 ITGA7 CRPPA DPM3 PPARG GNE ATP13A2 SGCB DKK1 CAPN3 POMK DYNC1H1 MT-ATP6 HINT1 KCNA1 ZFYVE26 EMD ADSS1 FLNC LMX1B VAMP1 DHX16 POMGNT2 SYNE2 DNM2 SGCA SGCD SELENON LDB3 KLHL9 BIN1 SYNJ1 TPM2 FKTN SYNE1 DES HP_ABNORMAL_ABDOMEN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ABDOMEN_MORPHOLOGY LYST NOD2 CR2 JAK2 NDUFS4 TUFM MCOLN1 GP1BA GUCY2D PEX5 AGA IFT122 RMRP KCNH1 HLA-DRB1 CCDC115 LARS1 PEX12 CTLA4 ACOX1 TTC37 NDUFV1 ATP7B RAG2 BTNL2 RTEL1 EOGT GPI HNF1A HNF4A PEX6 CTNS NOTCH1 IDS MRPS22 STAT4 PIK3CD NPC2 PRF1 NPHP3 OTC ATRX SLC29A3 IL23R SP110 CD3D PIEZO1 ABCC8 TSC2 CBS HYMAI SLC25A13 PEX10 IL18BP BSCL2 CLDN1 VPS13A FUCA1 MT-TV PHKA2 DCDC2 FDX2 IL7R ABCB4 JAK3 ASS1 SPTB ALG9 NCF2 GPC3 CCND1 G6PC PEX26 ATP8B1 GLB1 PEX16 SOS1 GP1BB EPB41 POU2AF1 MUSK PKLR TBXAS1 UBAC2 APOE CFTR GAA HBG2 GLRX5 CALR GATA1 SKIV2L NDUFA1 ABL1 ERCC1 LACC1 NEK8 GUSB ERCC8 FASLG SLC22A5 MET SLC20A2 DNASE1L3 NHLRC2 KIF20A GSN COG7 PCCB STEAP3 LBR FMO3 EWSR1 DCLRE1C IRAK1 TMEM70 SOX18 SNX10 C4A TNFRSF1B DKC1 TNFSF11 CYP7B1 COX10 HMGCL TNFRSF13C MAGT1 TET2 TNNT2 VPS45 NDUFAF1 CIDEC MVK IFT172 PIGA COMT MYPN MYBPC3 MADD CCR1 POLG SLC30A10 POLD1 GLIS3 PSAP RAG1 DIS3L2 BUB3 ENPP1 EIF2AK3 PIGS THPO MT-ND2 FERMT3 TNFRSF11A TMEM67 PEX2 MPC1 SLC4A1 AUH SLC34A3 GBA XIAP PEPD PRKCSH IL12RB1 AKT1 MPV17 HBB CDIN1 SLC25A20 XK ERAP1 MMAA BRCA1 FBP1 SERPINA1 TNNI3 LIPA PNPLA2 PDGFRB CYBB ANK1 ACADM EPB42 RAC2 KCNJ11 RNASEH2A LAT TTC7A TNFRSF1A NFKB2 RRAS MT-ND5 DLD RUNX1 MEFV FOS HLA-B FGFR2 TRNT1 TNPO3 RIT1 COG4 AMACR NOP10 DDRGK1 SC5D SH2B3 SCARB2 TRMU WDR35 PLVAP LPL LMNA NAGA ADA CASR NCF4 COA8 INPPL1 MFN2 APOA1 CLCA4 NDUFA11 PEX11B BCR SMPD1 SBDS HPGD CPOX ERCC6 CD19 DCTN4 COX14 SLC25A15 MKS1 SUMF1 HBG1 RRAS2 CAVIN1 TIMMDC1 CD96 SPTA1 FAS NDUFS6 UFD1 TCIRG1 ABCG8 FARSA PLAGL1 ITCH TNFSF12 OCLN HK1 CD55 ETFB TSC1 PC MYORG ABCC2 DHDDS CAV1 SRSF2 BACH2 SLC25A19 TGFB1 LIG4 PEX14 HAVCR2 RBCK1 NLRC4 XYLT1 LIPE GALT LPIN2 ADAR PMM2 CYBC1 ALDOA ABCA12 ASXL1 SLC37A4 FLI1 NLRP3 CD3E CD70 CYBA NAGS PEX1 PTRH2 PNP IDUA PHKB MT-ND6 SMAD3 RFT1 ASAH1 ABHD5 BOLA3 TNFSF15 CCBE1 MT-TL1 ZAP70 GATA2 EFL1 HADHA MT-ATP6 PSMB9 RHAG PLPBP NDUFS3 RIPK1 ALDOB LCAT IL12A-AS1 NAGLU BRCA2 MRPS28 PLEKHM1 CBL JMJD1C MT-CYB HSD3B7 INSR NDUFV2 SAA1 SLC7A7 ETFA IL12A TP53 MMUT ADAMTS3 CD28 TPP2 HBA1 EARS2 DGUOK MPL RHBDF2 DZIP1L USB1 ABCA1 MMAB NDUFS1 IGF2 AKT2 PSTPIP1 NDUFS8 PSMB4 TREX1 MOGS CD247 SLC13A5 HYOU1 GALK1 JAM2 ARL6IP6 NEU1 SH2D1A IL2RA TFAP2A CEP57 MTX2 AGPAT2 TPI1 PIGM TINF2 NDUFB9 KRAS UNC13D NDUFAF4 UCP2 NDUFS7 ARVCF RNU4ATAC RINT1 HJV ADA2 CPT2 SLC2A1 TALDO1 KLRC4 KCNQ1 NGLY1 KCNQ1OT1 MCM4 NBEAL2 RMND1 CA2 GNE ATM NPC1 GCDH ACADVL IFNGR1 UQCRB CLCN7 SAMD9L UMPS DPM1 RBM8A ICOS RNASEH2B STAT1 GCLC IFIH1 CASK PPARG PCK1 BUB1B ARL13B IL2RG TBX1 PEX19 FARSB SAMHD1 NCKAP1L CPT1A PCCA SLC35C1 HFE RAB27A HBA2 AGGF1 B2M HMGCS2 SEC24C GALE RBPJ PTPRC PSMB8 CD81 NDUFB10 DHFR COX4I2 PRKCD KIF3B PALLD ALG2 SLC17A5 MRPS7 PDGFB SOS2 CHD7 PIK3CA TRIM37 STXBP2 SNX14 MT-ND1 INPP5E GFM1 PEX13 TRAPPC11 NDUFAF2 ARHGAP31 DAXX G6PD KLF1 ATP6V1B2 CTSK COL3A1 PHKG2 DYNC2LI1 PRKAG2 SGSH MT-ND3 XRCC4 MS4A1 FAH NLRP1 ASL KIF1B RASGRP1 NDUFAF3 BRAF CCDC47 FAM111A ADAMTSL2 CDKN1C CTC1 NFKB1 SCO1 RNASEH2C PEX3 ALMS1 MRAS NDUFA6 XPR1 FSHR MT-TK APOC2 RPGRIP1L BPGM GNPTAB ABCB11 TERC PEX7 MIF F5 FOXRED1 SPIB COG5 ALG8 BCL2 GBE1 MMEL1 C1QBP GPC4 TMEM126B STAT3 ETFDH AKR1D1 POLG2 SRP54 OSTM1 ATP6AP2 KCNN3 PTEN YARS2 ANTXR1 NUBPL BTD HSD17B4 NPM1 MT-TW NCF1 IRF8 MAN2B1 IL1RN FLNC SLC25A1 ABCC6 GPD1 TFAM CD27 PKHD1 PRKAR1A DPM2 JAK1 CD40LG KCNN4 NOTCH2 CTSA IRF5 TNFRSF13B FAM111B TRIP13 LTBP3 TNFRSF4 KPTN SMAD4 TSFM WT1 TCF4 PIK3C2A NDUFS2 SCYL1 TMEM165 MT-ND4 IL6 SEC63 LYZ CASP8 ERCC4 SPP1 NR1H4 NRAS RASA2 EXTL3 COG6 AP3D1 VPS33A PYGL PDGFRA TKFC BUB1 TERT STAT6 HEXB CDKN2A IL10 CFAP410 MARS1 GPIHBP1 RREB1 DNAJC21 USP18 ABCD3 HIRA ERBB3 CDAN1 IFT140 FBN1 JAM3 ATP6AP1 SLCO2A1 IFNG A2ML1 COX5A ARG1 CASP10 MLH1 RAF1 HMOX1 SOX10 COG1 MT-TN NLRP12 MPIG6B CTNNB1 NDUFAF5 ALDH7A1 UROS SF3B1 NDUFB11 NDUFB3 HAMP STX11 ALG1 WRAP53 AGL MT-TE NHP2 DHCR24 DLK1 ACAT1 MST1 GYPC DLL4 TAPT1 CC2D2A NIPBL SEC23B SURF1 IL2RB ATPAF2 PALB2 GPC1 STX1A GALNS IARS1 ALG13 TKT FGA PTPN11 SLC39A4 AP3B1 MPI MEG3 WDR1 LRBA MRPL3 PARN BMP2 RTL1 GPR35 GNS TLR4 ATAD3A FOXP3 ALAS2 BCL6 DOCK6 DOLK GFI1B FAT4 G6PC3 SLC2A2 PIK3R1 GNMT MYD88 HGSNAT ALPK1 LZTR1 NDUFAF8 NAB2 PHYH COG2 LRP5 MTTP CARD11 ARSB ITK HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH TRPV4 LMNA REEP1 LMX1B ANO5 FHL1 SYNE2 DYNC1H1 HNRNPDL RYR1 SGCD SYNE1 TMEM43 MYH7 EMD ADSS1 HP_SOMATIC_MOSAICISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MOSAICISM NRAS KRAS DICER1 RHOA GNAS HRAS SMO PIK3CA ADA SLC35A2 FGFR1 FGFR3 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS SPG11 REEP1 DNM1L VCP VPS37A HNRNPDL CHRND TMEM43 BSCL2 MFN2 CPOX MTPAP TRPV4 REV3L ALG2 GARS1 SEPTIN9 ATP6V0A2 FHL1 MYMK TSR2 MTMR14 KY ACTA1 TSEN15 TPM3 MYH7 TK2 KANSL1 CHRNB1 TNPO3 MAP3K20 TIA1 SPG7 FLNA COL13A1 SEPSECS LAMA2 TRIM32 SLC52A3 NEB PAX1 POMT2 ADA2 MYF6 RPL35 RPL15 AGRN RYR1 NEFL NEFH RPL31 SMCHD1 GMPPB KIF5A SPEG HARS1 CHRNA1 FBXO38 LMNA LIPE C19orf12 FGF10 GFPT1 PLEC ANO5 FXN ITGA7 CHRNE CRPPA ALX1 SCN4A HSPB1 GATA1 TSEN2 GNE RPL26 MYH2 PDK3 EYA1 SALL4 HINT1 TSEN54 POLG2 EMD ADSS1 OBSL1 ABHD5 FLNC STIM1 GYG1 SYNE2 DNM2 SGCA CCDC8 ALS2 SELENON LDB3 CPLANE1 PTPN11 CAPN3 TTN INF2 KLHL9 PLOD3 FGFR3 MYOT BIN1 MYPN SGCB TPM2 TBX3 DNAJB6 RPS15A CEP126 GALC RPL27 MYBPC1 AK9 MUSK GMPPA FKRP FGFR2 PAX3 TRPS1 TRAPPC11 SQSTM1 DCTN1 RPS17 RRM2B PYROXD1 PSAP TBX5 RPL11 RPS19 POGLUT1 TWNK GDAP1 POLG HK1 SVBP BICD2 RPL35A CUL7 SGCG KBTBD13 RPS10 CYP7B1 HACD1 RPS7 RAPSN ALG14 MATR3 COLQ DYSF TCAP BRAF FRG1 AAAS KLHL41 DMPK LRP4 PLXND1 MYL2 DPAGT1 HOXA13 CAV3 LGI4 RPS24 KAT6A KCNJ2 RPS26 RPS28 LAMB2 FLNB MAP3K7 TSEN34 CHCHD10 ALX3 RPS29 RPL18 OPA1 SLC25A21 DOK7 LMX1B SLC39A13 HMBS POMT1 SGCD NGLY1 RPL5 RAF1 PNPLA2 RPS27 SYNE1 MT-TE FBXW11 GJB1 CSGALNACT1 MORC2 RBM8A SLC25A4 PPOX COL12A1 HP_Y_LINKED_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_LINKED_INHERITANCE RBMY1A1 RPS4Y2 PRY DAZ1 TBL1Y USP9Y PRY2 DDX3Y VCY CDY1 CDY2A DAZ3 DAZ2 BPY2 SRY KDM5D HSFY1 HP_ABNORMALITY_OF_THE_UPPER_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_ARM FGFR2 WNT7A FLNA NOG SALL4 SLC26A2 TBX3 TBX15 GNPAT ATP7A FZD2 HNRNPDL RECQL4 TMEM43 IFT122 GNPTAB FLNB SNRPB TBX5 RBM8A ALG12 POR SHOX STX16 LMNA RSPO2 MYSM1 POLR3A GPC6 LMBR1 IHH TRPV4 EMD EXT1 PTDSS1 DYM LMX1B GDF5 SYNE2 CYP26B1 SGCD DONSON PITX1 MACROH2A1 RNU4ATAC FGFR1 FHL1 GNAS FGF9 AGPS LONP1 TGFB1 ZIC3 SYNE1 EXT2 TCAP GSC MORC2 EZH2 FANCB HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM SGCD SYNE1 TMEM43 LMNA LMX1B TCAP FHL1 MORC2 EMD SYNE2 HNRNPDL HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE PHGDH FKTN LMX1B MYMK GLE1 FLNA PLXND1 CHRNA1 DAG1 POMK CHRNG FKRP FBN2 CAV3 SIL1 SALL4 TRPV4 REV3L ATP6V0A2 COLEC11 PIEZO2 POMGNT1 HBB POMGNT2 TBX3 CHRND INPP5K POMT1 MAP3K7 TBX5 LARGE1 CRPPA B4GAT1 B3GALNT2 SLC16A2 PSAT1 COL4A1 RXYLT1 POMT2 RBM8A HP_CONTIGUOUS_GENE_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTIGUOUS_GENE_SYNDROME PAX3 RPS14 KANSL1 WT1 PAX6 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS MAP3K7 LMX1B FLNA SALL4 RBM8A HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE ATP6V1A ADAMTS2 H19 RUNX2 FLNA IGF2 MED12 NLRP3 FAM111A ZIC1 SEC23A TBCE ATP6V0A2 ATP6V1E1 PEX14 ASPA SMC3 ANKRD11 POLR3A CTSK AMER1 RPS6KA3 MMP2 ATP7A BANF1 PEX19 HP_FRECKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRECKLING TP63 SOX18 CDK4 TYRP1 ERCC3 ERCC2 ERCC6 MLH1 MITF MAP3K7 OCA2 MSH6 KAT6A SPRED1 XPC DDB2 TERT CDKN2A BAP1 NF1 UVSSA CDKN2B XPA TYR PRKAR1A NBN ERCC5 ABCB6 POT1 MC1R ACD TERF2IP MGMT RAF1 ERCC4 GPR143 CDH3 BRAF PPP1CB ERCC8 PTPN11 HPS1 HP_SUBCUTANEOUS_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_NODULE MLX MDM2 COL5A2 PTEN DDIT3 FGFR2 KIT IARS2 BTNL2 MYSM1 MMP2 HMGA2 LEMD3 FGFR1 CCR1 SEC23B PIK3CA GJB2 STAT4 IFNG IL23R IL10 FAS GLA USF3 COL1A1 ANTXR2 FERMT3 ABCC6 KLLN IL12B KIF11 SDHC APOE NOTCH3 BRAF PTPN11 AKT1 ASAH1 TSC1 IDH1 GNAS MMP14 CDK4 MC1R ECM1 ERAP1 CYLD TLR4 COL7A1 DACT1 ACVR1 SDHD TNFRSF11B FBN1 UBAC2 NAGA APC KRAS IDH2 FUS SDHB HLA-B MEFV KLRC4 TEK TNFRSF11A SALL1 HLA-DRB1 IL12A PDGFRB OCRL NRAS ENPP1 INSR RAF1 COL3A1 IL12A-AS1 PORCN CTNNB1 COL5A1 PDGFB TSC2 C4A PTH1R HP_BILATERAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_PTOSIS KDM1A PLEC DMPK NOVA2 SURF1 AUTS2 IGF1 COL2A1 AEBP1 TK2 ODC1 NGLY1 ATRX STAT3 ABCC8 NDUFB8 KCNJ11 LAMB2 STAC3 ADNP PHOX2A RAD21 INS DGUOK NDUFAF3 PDX1 DBH GCK TBC1D24 GSN NDUFS2 KIF21A RNASEH1 MAF SETD5 ACBD5 RRM2B CERT1 COLQ TUBB3 PAH PACS1 KCNH1 SCO2 DNM1L HP_CARPAL_BONE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_BONE_HYPOPLASIA DYM KIF22 GNPTAB EIF2AK3 EXOC6B RSPRY1 COMP NANS TRPV4 SALL4 ALDH18A1 RBM8A HP_BROAD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FINGER RPS6KA3 GJA5 GLI3 XYLT1 WNT5A SMO IFT122 EP300 FGFR3 GPC4 TBX5 SUMF1 NHS FGFR2 TWIST1 RBM8A EXTL3 USP9X RAB23 KMT2E NXN IFIH1 MEIS2 RLIM MYT1L KCNA1 GDF5 GNAS PIGP EED SUZ12 TRMT1 NOG ACTL6B TRIM8 PIGQ FGFR1 SRCAP LIG4 FLNA SIK1 GJA8 FBXW11 FLNB KIF22 SVBP MEGF8 MED13 BMPR1A B3GAT3 PSMD12 CREBBP PTEN SCN2A COL10A1 HOXD13 MEG3 ACTL6A TANC2 TBCK SETD5 RTL1 DMXL2 MED12 KCNH1 BPTF PNKP EZH2 MSX2 GPC3 ACAN GNAO1 ROR2 CDKL5 SATB2 DVL3 NSUN2 OTUD6B FBN1 AMMECR1 PIK3CD DOCK3 EXOSC2 DDX6 SLC25A22 BMP2 DACT1 G6PC3 DVL1 PYCR2 MAP3K7 ADNP CASK ALX4 BCORL1 RNU4ATAC B3GALT6 GATA4 ARX NSD1 COL2A1 PUF60 SALL1 SCN1B NEPRO NTNG1 TCF20 CHST3 PRKD1 SMARCA2 ADAMTS10 STXBP1 NEUROD2 FGF9 SNIP1 WDR19 SMOC1 KNSTRN WDFY3 ZNF141 NPR2 GATAD2B ZMIZ1 DLK1 TRAPPC4 INPPL1 PACS1 HP_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE CLIP2 CR2 NDUFS4 NDUFA4 NODAL UBR1 CYP11A1 UNC80 SUGCT TRAK1 LYRM4 NDUFA13 NALCN GNB1 STT3A CTNS FDXR PEX5 HESX1 NDUFB3 COL6A1 RMRP TINF2 LYRM7 MAP3K7 NADK2 LARS1 BCS1L ATXN7 HSD11B2 SLC1A2 NFU1 NDUFV1 RAG2 TCF3 CYP11B2 DISP1 KCNA1 XPC DDB2 MMACHC EOGT PEX6 NOTCH1 ARCN1 PREPL PIGQ SIK1 MAGEL2 PRF1 HDAC8 SNRPN ROBO1 SP110 CD3D ALOXE3 PMPCB NSD2 DHCR7 ASXL1 TGFB1 JAGN1 SIX3 SLC25A13 PEX10 PPM1B CDT1 RNU4ATAC KIAA0586 NDN LAMA3 NDUFA12 BSCL2 ALG3 EP300 SCNN1G MT-TV GLI1 PHKA2 OFD1 PDHA1 BPTF ALDH18A1 IL7R JAK3 ASS1 BRF1 TBL2 TBR1 MT-ND5 POLG2 GABRA2 ALG9 KRT14 DEAF1 ITGA7 EGFR PEX26 ATP8B1 LCK GP1BB TIMM50 MTO1 HYMAI NELFA NRTN MCEE IKBKB COL6A3 HERC2 MYOD1 MT-ND6 PYCR2 AKT1 CARS1 LAMC2 GAA BRAF ACTB ORC1 NDUFA1 AVPR2 NUP62 VAC14 LRRC8A LIMK1 PTCH1 DLL1 RNF13 NHLRC2 GRM7 GAS1 SCN1B MT-TL1 ALG11 CERS3 NNT NFASC NDUFS2 FTO COG7 CACNA1A CYP24A1 GMNN ADAM17 GALC DCLRE1C NPAP1 RAC2 CARS2 SIL1 HPDL NDUFA9 RET DNMT3B YWHAG CPS1 SMC3 SKIV2L KIF7 SNORD116-1 CYP7B1 COX10 CHRNG PKP1 CIITA PEX12 CENPT TNFRSF13C VPS45 NDUFAF1 EPRS1 SLC46A1 SELENON ITGB4 SPINK5 NCAPG2 SIN3A TTC37 NR0B1 CARMIL2 TMEM216 COMT KCNB1 HPD HRAS MKKS HMGA2 FUT8 MKRN3 HADH SNORD115-1 RYR1 POLG ACADS MT-TF FDFT1 C12orf65 GPT2 EPHX1 AUH AARS1 ZFP57 RAG1 SERAC1 ENPP1 MYH7 GRIN2D FLCN TDGF1 SMAD4 NDUFAF6 PUS1 MT-ND2 PEX13 GDNF SCNN1A AHCY RTEL1 PEX2 RIT1 SEMA3C TACO1 PIK3CA IGHMBP2 AQP2 MC2R MAP2K1 DYNC2LI1 BMPR1A SLC34A3 RFXANK EHMT1 EXT2 PEPD PDX1 NONO MPV17 NDUFV2 NUS1 UBE3B SNX10 RBM10 MMAA EXOSC8 MYL2 CSF2RB NIPAL4 OCA2 FGF8 DSP SLC25A24 LIPA NDUFB11 MCCC1 SLC19A3 NDUFB8 TXNRD2 NDUFAF4 LAT SCN3A ASNS KMT2D NFKB2 IGLL1 HCFC1 B4GALT7 GLI2 BMP4 DYNC2I1 ZEB2 SDHB TLL1 VDR KAT6B ELN FOS STAG1 CSF2RA SPOP MT-TW AIMP1 GABRA5 COG4 FGFR1 MRPL12 OCRL ZIC2 CIT EPG5 GATA6 WNT2B ATP6V0A2 ERCC4 HCCS COG8 TBL1XR1 AGPS CLDN16 ALOX12B CD79A ADA PYCR1 COA8 RERE NFE2L2 SLC12A3 COL7A1 RRM2B POLA1 LMNA SEC31A VPS33B ACTA1 NDUFA11 PEX11B MMADHC SBDS OTC SURF1 ATP6V0A4 POMP NTRK2 COX4I1 ACO2 SLC25A15 FCGR2A CAVIN1 TIMMDC1 CD96 NDUFS6 UFD1 VPS53 CYP27B1 AMER1 MT-ATP6 ERCC6 SEC23B IL21 GABRB2 RAI1 LEMD3 POLR2A PGM3 ITCH ADK TNFSF12 SLC5A1 OCLN FAM149B1 GTF2IRD1 SZT2 DNAJC21 PNPO ORAI1 DHDDS STXBP1 KLLN RFC2 MTHFR GLYCTK NR1H4 PDE6D AHDC1 MT-TS2 PEX14 MCCC2 SPATA5 STAT5B RBCK1 NLRC4 ORC4 DYRK1A GALT LPIN2 PMM2 ORC6 GPR161 KCNJ6 ARPC1B HADHB KIAA0753 COL6A2 TK2 TGM1 RFX5 BCAP31 PSAT1 HCN1 CDK19 SDHD TMEM126B CD3E SON FOXP1 SMARCC2 LBR PTPN11 AGTPBP1 NAGS SLC39A4 PTRH2 PNP SSR4 PET100 MCTP2 PLP1 SNAP29 INSR RFT1 ASAH1 SARS2 ZAP70 EFL1 PSMB9 ADAT3 MBTPS2 KRT5 NDUFS3 FBN1 NEUROD2 TWIST2 CPLANE1 RARB SLC22A5 CASR SUCLG1 ALDOB BRCA1 LIPT1 TPM2 ZIC3 MRPS28 JMJD1C MT-CYB HSD3B7 STAG2 FOXH1 ATP5F1A CLCNKB SLC7A7 FMR1 ERCC3 ASCL1 LAMB3 EARS2 UBA1 NDP KRAS CYP17A1 H19 HADHA BRCA2 NFIX CASK TRIM8 MIPEP SHH SEMA3D HBB ERCC5 PLAA MMAB NDUFS1 MMUT EBP KRT17 NDUFS8 ACTG1 PSMB4 AGXT MTFMT TPM3 CD247 MT-TQ NIPBL KRT16 GALK1 CDON PIEZO2 HACD1 NKX2-1 PRDM16 GRIA4 IL2RA PEX16 COPB2 SDHC AGPAT2 COX15 COL4A6 WDR11 MBL2 NDUFB9 PCGF2 SFTPC SLC13A5 MYH3 GNPAT PHGDH COX7B PHOX2B ERCC2 COL12A1 SLC34A1 SLC4A1 NDUFS7 ARVCF ACSF3 SLC26A3 DACT1 ATM CYFIP2 ETHE1 CDC6 TALDO1 CSPP1 BAZ1B CDC45 SMC1A MRAP ECE1 ARX EEF1A2 ANTXR2 STRA6 TRIT1 EVC2 POMC TGIF1 POLR1D CD19 GCDH KLHL7 ARFGEF2 STAMBP CSNK2A1 DPM1 SLC25A4 DKC1 ICOS ABL1 ARV1 PPARG STRADA NEXMIF IL2RG TBX1 PEX19 PNPLA1 GABRG2 PRPS1 FARSB RELB STAT3 KCNJ1 LHX4 KMT2A SKI HNRNPH2 MT-ND1 HIBCH MLXIPL SLC35C1 MAP3K20 NECAP1 CYP2R1 RIPK1 CPLX1 SEC24C GALE TFRC RBPJ PTPRC PSMB8 PEX1 OTULIN CD81 SMPD1 ATP6V1A GTPBP2 RPS19 GTF2I SCN8A MPDU1 SETBP1 USF3 HBA2 NDUFB10 COX4I2 MTR MT-CO1 EVC SMARCD2 SGO1 SLC17A5 MRPS7 NACC1 SLC3A1 ALAD CHD7 OTUD6B IGF1 IGHM SLC25A22 DNM1L NGLY1 FUCA1 NDUFAF2 ACVR1 ARHGAP31 UFC1 CREBBP PHKG2 HIKESHI DHCR24 PWAR1 TRIO MT-ND3 PTDSS1 MS4A1 FAH CNTNAP2 NLRP1 ASL GCK KIF1B NDUFAF3 SALL1 MICOS13 KANSL1 KCNA2 FAM111A EDN3 ERCC1 NFKB1 IARS1 SCO1 PEX3 NOTCH2 NDUFA6 AMACR CLCNKA MT-TK CDKL5 GBA TTN DPYD RFXAP MED17 USP7 PIGB IGF2 POLR1C GNPTAB ABCB11 SLC25A3 ABCA12 MRPS14 ECHS1 MRPS2 LETM1 FOXRED1 ASXL3 VIPAS39 POLR3A FLNA MTRR ALG8 PSAP GBE1 BLNK TWNK UBA5 SLC39A8 PNPT1 USP8 ERMARD MT-CO3 PSMD12 PEX7 AP1B1 CLMP SRP54 GATM SC5D SCN2A CTCF KCNAB2 HBA1 DMXL2 YARS2 NUBPL ACD SCNN1B CA2 TJP2 TAZ SFTPB SYNJ1 HSD17B4 ST3GAL5 GNAO1 LTC4S DDOST SLC12A1 BTK FGD1 IL1RN PDHX ABCC6 TCIRG1 OSGEP ALG12 SLC35A2 SOX9 TFAM EPCAM EDNRB KMT2C STT3B WDR26 PUS3 DPM2 JAK1 CD40LG SDHA SLC25A21 CNKSR2 NR3C2 GABRD TNFRSF13B BAAT NDUFAF5 TRAC ABCC8 COG1 PLAGL1 MT-ND4 ATP6V1E1 ATP7B ACTL6B TCTN3 TERT LRPPRC MOGS DNM1 RAD21 MECP2 KRT6A PCSK1 EXOSC9 PACS1 FOXP3 NDUFA2 TMEM165 TCF4 NEUROG3 UMPS CASP8 MGAT2 FANCF KDM6A TMEM70 ABCA3 ELMO2 MYMK COG6 FLII RASGRP1 KIF15 PARN PYGL TKFC NDUFA10 EXT1 MEGF10 MARS1 ZSWIM6 VPS13B GPIHBP1 ARID1B RREB1 CD79B TRMT5 HIRA TRMT10C VPS37A VPS51 AARS2 PNKP LIG4 DGAT1 SLC10A2 CLTC ADAR NRXN1 IFNG COX5A CAMKMT NSMCE3 CFTR SETD5 SIM1 BSND KCNJ11 SYNGAP1 GTPBP3 MT-TN CYB5A RPL5 TGDS XPA SAR1B SLC2A2 ACAD9 CA12 AKR1D1 MSMO1 IQSEC2 MT-TH PTEN ACOX1 SMOC1 PCCA PRDX1 MAP2K2 ALPL CHRM3 DLL4 FGF12 STAR IL2RB SLC6A8 ATPAF2 GPC1 PIGP GNAS RECQL4 DGUOK JAG1 SMARCA2 MDH2 DALRD3 CAV1 FIG4 MVK LMBRD1 PPP3CA GJA1 SUCLA2 MPI CD3G AP3B2 FBXL4 LRBA MRPL3 DEGS1 CBS ZMPSTE24 TCN2 PPP1CB BANF1 NUP214 ARMC5 RAB3GAP1 FH GYS2 CTBP1 ELAC2 PWRN1 CDH23 FGFRL1 DOCK6 CHRNA3 G6PC3 RARS2 WWOX AK2 PLEC WDR4 DOLK IL21R CACNA1B COL4A5 INS TMPRSS15 TBX4 TCOF1 TASP1 PTF1A SLC39A13 PARS2 NDUFAF8 PIK3R1 ERCC8 RTTN STING1 DLD MTTP PROKR2 KRT6B PRKCD PCCB MT-CO2 SCO2 HP_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAUTERINE_GROWTH_RETARDATION ABL1 NDUFS4 NFIX TUFM UBR1 IFIH1 UNC80 PUF60 HHAT SOX4 HES7 BUB1B NODAL POLA1 YY1 SMPD4 ADGRG6 XYLT1 PEX5 NDUFB3 TBX1 KDM6A QRICH1 LONP1 INS TINF2 ARID2 RB1 PRPS1 DLK1 BRCA1 STAT3 LMNA HSD11B2 ZFPM2 TTC37 FANCI NDUFV1 SIX3 TRMT10A KMT2A CEP152 RTEL1 MMACHC CHRND MLXIPL SLC35C1 ARCN1 LIG4 CPLX1 NDUFB11 RBBP8 KIF14 PDX1 HDAC8 FKTN SEC24C BRIP1 DISP1 MEG3 CDKN1C GDF1 RPS19 CENPJ SF3B4 NSD2 DHCR7 NSDHL PIK3R1 ASXL1 FANCM NDE1 HYMAI FBLN5 SLC25A13 NDUFB10 WARS2 CDT1 RNU4ATAC MT-ND2 EVC PLK4 EP300 SEMA3E GLI1 PDE4D PDGFB ALDH18A1 SFXN4 B3GLCT TELO2 PDSS2 OTUD6B TFAP2A BMPER FAM111A IGF1 SEC61A1 CHRNA1 PSAT1 WNT4 GFM2 GFM1 XRCC2 GP1BB GAS1 TRAPPC11 SMC1A RFWD3 CCNQ NELFA NDUFAF2 ZFP57 CDC6 MUSK GATA5 PPP1R15B SDHAF1 PKLR ERCC5 COG4 SDHA CARS1 GATC SKIV2L ORC1 NDUFA1 ERCC1 ERCC8 MT-ND3 APPL1 RAB18 PTDSS1 RAB3GAP2 WASHC5 WDR4 SLC20A2 RELN MPLKIP NUP88 GCK NDUFAF3 CCDC8 TOP3A KANSL1 UQCRFS1 CORIN PSPH FTO CKAP2L COG7 SMARCAL1 KIF5C CTC1 IARS1 PTCH1 SCO1 LARS2 LAGE3 WDR73 TMEM70 NDUFA6 KIF2A CENPE COQ7 ATP7A BLM XPR1 RAD51 FLT1 SMC3 EFEMP2 DKC1 SEMA5A CHRNG SMARCA4 PTCD3 PIGG TBC1D20 TBCE PDHB SHH PCDH12 NIN NBN NDUFAF1 IGF1R PCNT IGF2 DPF2 TERC NCAPG2 HDAC6 EIF2AK3 LETM1 FOXRED1 TGDS FANCD2 COMT COG5 GPKOW HMGA2 FUT8 POLR3A KLF11 MTRR HADH ALG8 MESP2 MADD ABCC8 RTL1 FDFT1 TMEM126B TUBGCP6 ITPA PNPT1 CTDP1 GLIS3 CRKL BUB3 RBM10 CREBBP ALX4 DLL1 PDHA1 SC5D SMARCD1 CEL DDX11 PEX2 TP53RK MAPK1 IGHMBP2 POLE RIPPLY2 DONSON DYNC2LI1 MBTPS2 TRAIP GATB ERCC4 ERCC2 NUBPL ACD GBA BRAF FLT4 PTPN11 AARS1 DLL3 GTF2E2 YIF1B GTF2H5 NSUN2 ATP6V1A NPM1 CANT1 RAB3GAP1 RPL11 NDUFAF8 NUS1 DYRK1A BCS1L SLC25A24 OSGEP OBSL1 SLC35A2 PDGFRB TFAM TAF1 RNASEH2A CLCN7 NDUFAF4 TTC7A FANCC TCTN3 STT3B ADGRG1 SMARCE1 CDON STOX1 ARID1A PRKAR1A RNF113A GATA4 LIFR STAG1 SRPX2 TRIP13 NOP10 KCNJ11 STRA6 COG1 CUL7 UBE2T GATA6 PLAGL1 MCM5 SMARCC2 ORC4 COQ9 ERCC6 LRRC32 RAF1 ATP6V1E1 ATP6V0A2 SDHB MAD2L2 EMG1 RAD21 SMARCB1 PYCR1 TSFM BLK EXOSC9 NDUFS2 SEC31A VANGL2 NDUFA11 GLI3 DOK7 CTNND2 MKS1 TIMMDC1 SIX2 COG6 ATRIP NDUFS6 UFD1 ARID1B SLX4 PARN ATR BUB1 RIPK4 SRCAP NALCN LEMD3 GJA5 TERT FANCB PIEZO2 NUP133 GTPBP3 RPL10 NUP188 HYLS1 TBX6 DNAJC21 MYORG COQ2 NEK9 CNOT1 VPS13B DHDDS RREB1 HNF4A ZMPSTE24 TPRKB ESCO2 SEC24D PALB2 HIRA MRPS25 AFF2 FLNB MT-ND1 NDUFA10 PHGDH BCR TGIF1 SNRPB ABCB7 ORC6 SNRPN TRIM37 TIMM22 GLI2 SMAD4 PRKDC BCAP31 FGF8 SETD5 ZNF335 SON CEP290 INSR RAD51C FANCL PET100 MCTP2 NDUFAF5 MYOD1 FANCE MYH3 NDUFS3 NEUROD1 NKX2-5 RARB PLOD3 SUCLG1 ALG1 WRAP53 CTU2 MRPS28 NHP2 RERE JMJD1C CDCA7 DHCR24 STN1 NDUFV2 UQCC2 ATP5F1A GMNN JAG1 WNT7A FMR1 COX6B1 TAPT1 ZIC2 MTHFR FGFR1 NIPBL ERCC3 PDE6D SDHD SIN3A RFX6 HNF1A GINS1 H19 DNAJC19 BRCA2 PAX4 NF1 RECQL4 NOS3 SMARCA2 USB1 SOX11 SAMD9 NDUFS1 NDUFS8 BRPF1 FBN1 NKX2-6 CDK10 JAM2 ARL6IP6 SLC26A2 ACADS CEP57 DNMT3A TARS1 ADAT3 FANCF SUFU RAPSN NDUFB9 PCGF2 LMBRD1 XRCC4 CTBP1 NDUFS7 CHD7 ARVCF HOXD13 MESD KAT6A FGFRL1 FLI1 IBA57 TUBGCP4 ELN TOR1A TDGF1 QRSL1 TALDO1 TBX4 COQ4 CDC45 SLC18A3 FLVCR2 TMEM216 PLAG1 FOXH1 EVC2 PI4KA FANCG MCM4 RTTN FANCA LFNG KLHL7 FIG4 PAH P4HB GATAD2B NUP107 CITED2 FAM20C HP_SMALL_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOR_GESTATIONAL_AGE INSR UBR1 SBDS PUF60 PQBP1 FANCE LONP1 PPP1R15B TP63 NR1H4 DMD TMEM70 GDI1 KCNJ1 TTC37 SIX2 TSR2 TRMT10A RNU4ATAC SLC35C1 CYB5A KANSL1 MAGEL2 TAF13 CPLX1 ACADVL SNRPN NUP188 ARHGEF6 RPS6KA3 NSD2 PIK3R1 ADA2 ABCC8 DNAJC21 NSUN2 POR NDN RPL35 RPL15 FANCC COL1A1 RPL31 DLK1 CLTCL1 CREB3L1 DLG3 DYRK1A ERCC2 ABCB4 FZD4 TBR1 ERCC6 AUTS2 IGF1 HADHB NPHS1 TIMM22 DNM2 TSHR MEG3 LRP5 MYH3 SMAD4 UPF3B NGLY1 MTO1 NSMCE3 GATA1 FAM111A HYMAI CCNQ ZFP57 RPL26 ZNF335 MUSK RBBP8 USP9X CNOT1 CCDC8 IQSEC2 SYNE1 CARS1 PET100 SKIV2L MCTP2 ORC1 OBSL1 THOC2 ANAPC1 UQCRFS1 CORIN MED12 SPR IGF2 ACSL4 ALB PRKAR1A DALRD3 GMNN GK RPS15A COQ7 RET BLM CRIPT YY1 FLT1 PTF1A VPS13B RPL27 PTCD3 GCK RTL1 GRIN2A RECQL4 TAPT1 CYB5R3 HSD11B2 PLAG1 ASCL1 EIF2S3 FANCA ZNF81 SIN3A PAK3 INS PNPLA6 LETM1 GPC1 H19 HADHA RPS17 RPL11 SYP MECP2 RPS19 WDR73 FBN1 MRPS16 MID2 SHROOM4 BUB1B PTS FLCN NECTIN1 AGTR2 ZNF711 SRP54 PDHA1 ABCB11 THRB IRF6 GALK1 CTCF RPL35A RPS10 CNKSR2 FBXL4 RPS7 IGHMBP2 TRMT1 OCA2 TRAIP PAM16 CEP57 CLCN4 ACTB COX20 GTF2E2 ALG13 HMGA2 ZNF41 PHOX2B SLC12A1 HUWE1 MBTPS1 PTCHD1 CTBP1 SLC25A24 RPS24 TSPAN7 MSX1 ALG12 RAB39B GATA6 KCNJ11 FGFRL1 EPCAM SLC9A7 RPS26 RPS28 FRMPD4 USP27X ARX STOX1 RPS29 RPL18 TALDO1 CXorf56 PPP2R3C TGFB3 ATP8B1 FANCD2 CUL7 EMG1 PLAGL1 RPL5 IL1RAPL1 CDKN1C RPS27 FTSJ1 HCFC1 COL1A2 STAMBP CNTN1 NDP PIK3C2A POC1A TBL1XR1 HP_DISPROPORTIONATE_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_TALL_STATURE MAN2B1 DOCK3 DDX6 RLIM MED12 DSE LARS2 FBN2 BPTF ZNF469 ZDHHC9 NELFA LETM1 KMT2E ASXL3 MYT1L FBN1 UPF3B ATP6V1E1 PSMD12 TRMT1 ACTL6B PLOD1 COL2A1 BCORL1 FBXW11 TGFBR1 RET DLG4 SVBP FKBP14 MED13 ATP6V1A NTNG1 TCF20 HPGD CBS NSD2 HERC1 COL1A2 PTEN ACTL6A TANC2 LOX SMS SMAD3 CHST14 WDFY3 ZMIZ1 TRAPPC4 TGFBR2 NKAP AKT1 HP_LARGE_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOR_GESTATIONAL_AGE RTL1 PIGN GLI3 ABCC8 UCP2 MEG3 ODC1 PIGA MTMR14 HNF1A KCNJ11 INS MTOR KLF11 KMT2C PAX4 FIBP HNF4A ABCC9 AKT2 APPL1 GCK DIS3L2 BRAF PDX1 DNM2 PIGL CEL HERC1 NEUROD1 MYF6 RYR1 BIN1 ANK3 PIGT DLK1 SUFU PTCH1 EHMT1 BLK TMCO1 RNF135 EDNRB HP_DEATH_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_INFANCY VPS33B ALPL PEX11B TUFM PEX6 LAMC2 SMPD4 PIGB PEX12 ASCL1 HESX1 GCSH HSPG2 SCYL2 REV3L NADK2 TGFBR2 PMS2 NAXD LAMB3 LHX4 PIGA EIF2AK3 KRAS COG6 NXN CCDC22 PEX19 NAXE ASXL1 MADD VPS35L GPC4 CD96 MRPS22 ITPA NRAS PQBP1 TSEN54 PEX2 OCRL ITGB4 FAN1 ROBO1 ATRX MYL1 HDAC6 AMT POLG2 ERCC6 FXR1 SCO2 PEX10 LMOD1 BRAT1 ARX LAMA3 UBR1 SIK1 MSH6 PRPS1 PLEC PEX16 LMNA SMO MLH1 SUOX AARS2 DLL3 EPCAM GPC3 ERCC2 WDR11 MLH3 SNRPB EPG5 GPR161 SLC26A2 TMEM260 PIK3CA ALG14 PLXND1 PEX5 TSPYL1 PHOX2B PEX26 LTC4S DNM2 HTRA2 COX5A TRIP11 WASHC5 CLCF1 SLC25A24 LIPA DNM1L PEX13 PMS1 PSAP GBA LIPT1 ROR2 GDF5 TFAM ANTXR2 FLI1 DOLK NDUFA2 DCX ERCC5 TOR1A KLHL40 GATC PET100 NDUFAF3 SCN4A QRSL1 FARS2 IDUA CDON ITGA6 GLB1 BOLA3 FREM2 AIMP1 GRM7 PTF1A SLC25A19 MYO5B RMND1 COASY ACOX1 SUCLG1 PEX1 MYH11 ALG1 MYLK NADSYN1 SMOC1 GRIP1 PEX3 BMPR1B TMEM70 PROKR2 EMG1 GLDC KLHL7 RET MSH2 CNTN1 DPM2 CRTAP CRLF1 ERCC1 FRAS1 ACTG2 STAT2 PEX14 MESP2 COX10 RBM8A HP_SEVERE_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_FAILURE_TO_THRIVE RTTN INSR ZFP57 ERCC6 GPC1 ZMPSTE24 FIG4 PEX7 UNC80 HYMAI PRPS1 NALCN VAC14 LMNA HP_HEMIHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIHYPERTROPHY NRAS CDKN1C KRAS AKT2 IGF2 PIK3CA AKT1 KCNQ1 KCNQ1OT1 RNF125 RASA1 H19 HRAS HP_MILD_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_POSTNATAL_GROWTH_RETARDATION PTRH2 PRKAR1A CDAN1 FAT4 CCBE1 ERCC8 ADAMTS3 IGFALS ERCC6 HP_FAILURE_TO_THRIVE_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_IN_INFANCY CLIP2 CR2 ITCH UNC80 TNFRSF13C FGFR1 SCNN1A MAP2K1 UBA1 KRAS HRAS FLII COG8 MKRN3 SNORD115-1 KIF15 MLXIPL PYGL CTNS TKFC FDFT1 BRAF RECQL4 CD96 RAI1 SEMA3D HBB SLC39A8 ENPP1 TNFSF12 SP110 OTULIN CD81 MVK GTF2IRD1 PSMD12 GTF2I SETBP1 VPS13B SLC25A13 GDNF SEMA3C MAGEL2 RFC2 RET IL2RA COPB2 SCNN1G SCNN1B MCCC2 BPTF JAK3 TBL2 DEAF1 CSF2RB LTC4S FOXP3 IL1RN COX5A DYRK1A TK2 ABCC6 NSMCE3 MCCC1 PWRN1 SLC35A2 PSAT1 NRTN SON HADHB PTPN11 EDNRB HERC2 MYOD1 COG4 ELN CARS1 PUS3 NFKB2 NDN PWAR1 BAZ1B LIMK1 MS4A1 ECE1 CSF2RA SPOP TNFRSF13B COG1 IQSEC2 EDN3 FOXP1 ERCC1 NFKB1 HADHA CD19 NPAP1 RAC2 HPDL PRKCD SNORD116-1 MAP2K2 NDUFA4 SNRPN POLA1 ICOS HP_SLENDER_BUILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_BUILD GRIA3 STRADA KLHL41 TUBB4A MYPN TYMP ACTA1 PDE8B COL6A1 COL6A2 NEB TGFB1 NONO HERC1 TIMM50 PRKACA FARSB TPM2 DNA2 NSDHL KBTBD13 POLG COL6A3 POLR3A PRKAR1A TPM3 FBN2 SARS1 KANSL1 MED12 PDE11A WRN HP_PROTUBERANT_ABDOMEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTUBERANT_ABDOMEN MTOR VDR SLC37A4 BMPER PTH1R PSMB8 G6PC SMPD1 CYP2R1 IFT122 GNPTAB COL2A1 COL11A1 LIPA KAT6A MEG3 SMARCAL1 COL11A2 GNE SLC26A2 RTL1 IFT52 TRIP11 CYP27B1 INPPL1 DLK1 NKX3-2 GBA HP_OMPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OMPHALOCELE FGFR1 VANGL2 WDR35 RTL1 DVL3 FLNA MMP14 FREM1 MTHFR DACT1 COL11A1 TSHB LRP2 YWHAE ALG9 MEG3 SPECC1L MKS1 CEP120 HOXD13 NXN CD96 CHD7 DYNC2H1 PIGN MMP2 TTC7A FLNB DYNC2I2 FOXF1 BHLHA9 AMER1 ISL1 MASP1 CHUK PORCN GPC4 PPP2R3C GAD1 THRA IGF2 FREM2 IFT81 MBTPS2 HYLS1 IFT80 PTCH1 DLK1 KCNQ1 KCNQ1OT1 NEK9 TWIST2 LMOD1 RAB23 CDKN1C COL11A2 MYH11 NFIX LBR MYLK GRIP1 ZIC3 LONP1 PAFAH1B1 TP63 PPP1R12A SEMA3E FRAS1 ACTG2 DYNC2I1 GPC3 HIC1 HP_DIASTASIS_RECTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTASIS_RECTI MTOR B3GLCT PIGQ RTL1 SHPK COLEC10 H19 IGF2 SOX6 GPC3 MEG3 GPC4 DLK1 KCNQ1 KCNQ1OT1 GNPTAB ELMO2 CDKN1C COLEC11 SPECC1L MASP1 TBCK PORCN CHST14 FOXF1 EZH2 PPP2R3C HP_ASCITES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCITES ABCB4 MST1 IL12A DLL4 TAPT1 LBR ALG9 ADAMTS3 BUB1B FSHR SPP1 GBA ABCC6 NR1H4 FLI1 FARSB POU2AF1 F5 ARHGAP31 SPIB TFAM CD27 DOCK6 FAT4 LIPA JAK2 PKHD1 MYBPC3 PRKAR1A EOGT RHBDF2 ALG8 PRKCSH GBE1 MMEL1 HFE DZIP1L NOTCH1 PRKAG2 MRPS22 AGGF1 BUB1 NEU1 DGUOK GALT GUSB NPC2 ATP8B1 FAH MEFV DIS3L2 IRF5 TNPO3 TNFSF15 CCBE1 BUB3 ENPP1 RBPJ SP110 DNASE1L3 TRIP13 CD55 TSC1 TSC2 PIEZO1 ABCB11 OSTM1 ATP6AP2 FAM111A SCARB2 ARL6IP6 STAT4 USP18 PLVAP NPC1 EWSR1 BMP2 IRAK1 WDR35 SOX18 CEP57 SLC17A5 WT1 TCF4 GPR35 IL12RB1 ERCC4 HSD17B4 ASAH1 HP_PROMINENT_UMBILICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_UMBILICUS FGD1 BSCL2 AGPAT2 ZMPSTE24 CAVIN1 KAT6A LMNA HP_ANTERIORLY_PLACED_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIORLY_PLACED_ANUS B3GLCT DVL3 PIGW UBR1 CDH11 HCCS FGF8 FREM1 PGAP3 C2CD3 RECQL4 DLL1 ATN1 SNRPB FOXH1 SUZ12 SLC25A24 MED12 PGAP2 DACT1 RFX6 PIGV FGFR2 PTCH1 CDK8 DISP1 PORCN NODAL PIGO DDX6 PTDSS1 CDON PIGL ACADVL TGIF1 COX7B SALL1 SETBP1 NDUFB11 DCHS1 POR PIGY ZIC2 SIX3 TDGF1 RRAS2 SHH GAS1 GLI2 FAT4 CHD4 HP_ABNORMAL_RIB_CAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY WDR35 EXT2 MMP13 PUF60 HES7 EVC DDRGK1 DLL1 TNFRSF11B IFT122 SF3B4 RMRP HHAT MAP3K7 LMNA MGP TENT5A KMT2A IFT140 SKI GDF6 CCDC22 ACP5 PIEZO2 CHRND CTNS NODAL CYP2R1 CPLX1 OCRL TBC1D24 MEG3 TBX15 RPS19 IFT172 NSD2 SETBP1 NSDHL GPX4 SLC26A2 RSPO2 COL2A1 GNPTG RNU4ATAC KCNJ8 MYF6 KIAA0586 DYNC2I1 FGFR2 COL1A1 DLK1 FUCA1 SEMA3E CREB3L1 TTC21B SOS2 INPPL1 FBN1 BMPER GPC3 CHRNA1 DNM2 GLB1 MYF5 SOS1 NELFA CDC6 DYNC2H1 MUSK ACAN DYNC2I2 PHEX COMP IHH TRPV4 DYNC2LI1 BRAF ORC1 HRAS SGSH VAC14 OBSL1 GUSB PTDSS1 WASHC5 P3H1 SALL1 MBTPS2 CCDC8 PTPN11 CDT1 NFASC INTU FAM111A COL11A2 LBR BIN1 PAX7 SOX9 MRAS DHCR7 NEB SNX10 PCYT1A FUZ CHRNG RTL1 TBCE TRPV6 MAMLD1 IGF1R TBX6 SELENON RECQL4 HSPG2 MAP2K1 MEOX1 GNPTAB TBX5 RBM8A HDAC6 SIX6 EIF2AK3 LETM1 GPKOW POLR3A FLNA WNT7A MESP2 GPC4 ACTB DYM GLE1 RUNX2 ERMARD B3GAT3 PTH1R SRP54 TNFRSF11A KCNAB2 IRF6 RIPPLY2 DONSON KRAS EXOC6B MED12 IFT57 SMO LRP5 PTCH1 ANTXR1 SLC34A3 GAS1 EFNB1 DLL3 AKT1 EVC2 TRAPPC2 AMER1 WNT3 MAN2B1 IL1RN KCNQ1OT1 KDELR2 H19 ALG12 KLHL40 NOTCH3 EXT1 RRAS VDR SOX2 CDON B3GALT6 GATA4 GABRD RIT1 SLC35D1 IFT80 WDR19 COG1 CUL7 SEC24D NRAS GATA6 SOST ZIC2 AIFM1 PAX3 SHH ADA COL1A2 RAB33B RERE TMCO1 MTM1 SBDS GLI3 MGAT2 CENPJ C2CD3 FLNB CEP120 RRAS2 RASA2 MTMR14 APC CSPP1 TCIRG1 FOXF1 XYLT1 CYP27B1 MAPK1 VPS33A DISP1 TNFSF11 NOG AR ACTA1 CFAP410 PLCB3 NEK9 NAA10 IKBKG PTEN DNAJC21 ZMPSTE24 RYR1 TBCK SIX3 ANK1 PEX1 XYLT2 EZH2 ORC4 DDR2 SNRPB ATR ORC6 FGF8 WNT1 LIFR A2ML1 PPIB FOXH1 COL11A1 RAF1 SMAD4 PRKACA CHD7 LRP4 SON SUFU LMOD3 IDUA BMP2 COL10A1 ANKRD11 IFT81 CHST3 MYH3 OFD1 ROR2 MAF RTTN NAGLU KIF22 CBL KLHL41 PTCH2 CRTAP GMNN ALPL CHRM3 VANGL1 TAPT1 BCOR CEP152 NIPBL SCARF2 GDF3 ABCC9 IFT43 PPP3CA NXN TRIP11 IDS FGFR3 PORCN CILK1 JAG1 GALNS TGIF1 FIG4 BGN HERC1 CANT1 PRDM16 TDGF1 PAM16 DNMT3A MTX2 GLI2 NKX3-2 FERMT1 BANF1 PRKACB CLCN7 GNS PCGF2 MATN3 NEK1 CTBP1 EFL1 ODC1 IGF2 DACT1 HOXD13 MESD KAT6A FGFRL1 FLI1 SERPINH1 ZBTB16 TOR1A CDC45 SMC1A LMX1B HGSNAT ADAMTS10 POP1 LZTR1 LFNG P4HB ARSB ATP7A WNT4 UBE3B HP_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH HSPG2 SETD2 KRAS RTL1 IGF2 PIK3CA KCNQ1 KCNQ1OT1 MEG3 HNRNPK SOST SUZ12 HERC1 PIGA NRAS CDKN1C FAM20A DICER1 PDGFRB DLK1 KMT2C NF1 FIBP EHMT1 HRAS EFEMP2 RNF135 NFIX FBLN5 ESR1 HP_ABNORMAL_ILEUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ILEUM_MORPHOLOGY TNFAIP3 GPC3 ZNF41 FANCI GPC4 PTCHD1 XRCC2 DMD UPF3B ZNF81 TSPAN7 RAB39B BRCA1 BRCA2 GDI1 PAK3 SLC9A7 FANCD2 USP9X FRMPD4 FANCC RAD51C IQSEC2 FOXF1 CARD8 SLX4 SYP USP27X ARX MECP2 BRIP1 CXorf56 FANCB MID2 FGFR1 DIS3L2 ARHGEF6 FANCL RPS6KA3 FANCE AGTR2 ZNF711 MED12 FANCM UBE2T RFWD3 FANCG ACSL4 FANCA CNKSR2 IL1RAPL1 PALB2 MAD2L2 RELA FTSJ1 HCFC1 ERCC4 RAD51 PPP1R12A TTC7A DLG3 CLCN4 FANCF RBM8A ALG13 HP_ABNORMAL_UMBILICUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICUS_MORPHOLOGY CLDN19 CLIP2 COLEC10 CDH11 HES7 GLI3 GPHN TPO COL2A1 RNF113A AEBP1 WNT5A AGA TSHB TBX1 DGCR6 TP63 KCNH1 SUZ12 SLC5A5 CAVIN1 BRCA1 ATP6V0A2 SH3PXD2B TMEM70 BCOR FGD1 TENT5A COL5A2 RAB23 SKI KCNA1 CHST14 MTOR UFD1 ARID1B GLRB ELN BSCL2 SLX4 MLXIPL SLC35C1 CREBBP PIGQ IDS RIPK4 ZBTB24 TG PLAGL1 KDM3B SIK1 FANCB OCRL SEC24C ADAMTS2 SOX6 DUOX2 GTF2E2 NOTCH3 MEGF8 MEG3 GLRA1 GTF2IRD1 HSPG2 DLK1 NEU1 GTF2I SETBP1 NSDHL FANCM COL1A1 LHX4 ESS2 HYMAI BMP1 ATAD1 RREB1 DNMT3B IKBKG SLC26A2 LMOD1 KCNJ8 TRRAP RFC2 PALB2 SMAD3 PRDM5 HIRA SEMA3E TUBB EOGT TGFBR2 ALDH18A1 PNKP EZH2 PAX8 FRAS1 GPC3 MAN2B1 BCL11B B3GLCT SRCAP TBL2 DGCR8 PIK3CD AUTS2 FANCI GPC4 LRP2 XRCC2 GP1BB SPECC1L SLC25A22 MED12 ZFP57 CHD7 LBR RAD51C GPC6 DVL3 FOXE3 DVL1 GUSB LIMK1 DUOXA2 TRAF7 MPLKIP SETD2 ATRX MBTPS2 SCN1B FANCE MYH3 POU1F1 FBN1 NEUROD2 FTO SNIP1 RIN2 ROR2 MYH11 NFIX GMNN MASP1 COL3A1 GRIP1 NOTCH2 COL5A1 FZD2 JMJD1C RAD51 CDKL5 KIF7 PROP1 CHRNG RTL1 PPP2CA RAC1 NIPBL ERCC3 IGF2 GNPTAB NOTCH1 ABCC9 ELMO2 FGFR2 TGDS DNMT3A NXN FANCD2 COMT TSHR H19 PIGP SLC2A10 IYD FLNA MESP2 TRIM8 BRIP1 PORCN EED SHANK3 GLIS3 NKX2-5 APC2 PIGS NECTIN1 SCN2A IRF6 TRIP11 TWIST2 CCBE1 RIPPLY2 ZMPSTE24 DMXL2 SLC25A24 ACTG2 ERCC4 ERCC2 ANTXR1 EHMT1 SLC6A5 TARS1 DGCR2 EFNB1 TRHR FANCF DLL3 GNAO1 CDCA7 IDUA GTF2H5 LTBP4 PHGDH MED13L ARVCF MSX1 BRCA2 GATA6 KAT6A ATP7A HESX1 KCNJ11 COLEC11 NSD1 LHX3 GJA1 FANCC KMT2C HDAC4 FBLN5 ADNP ISL1 TOR1A CASK NALCN AGPAT2 BAZ1B ARX FREM2 FANCL ABCC8 SALL1 STXBP1 UBE2T RFWD3 FANCG FANCA C1S MYLK MAD2L2 LFNG KNSTRN FKBP14 MAPRE2 PTCH1 FBXW11 ARSB PLOD1 PACS1 HELLS LMNA SEC31A HP_BARREL_SHAPED_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARREL_SHAPED_CHEST DYM TRAPPC2 COL2A1 EIF2AK3 P3H1 MYH3 TNFRSF11B KDELR2 CHST3 LBR ACAN LRP5 TRPV4 ACP5 FUCA1 TRIP11 WNT7A VPS33A CILK1 RAB33B HRAS HP_ASYMMETRY_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_THE_THORAX KCNQ1OT1 ANTXR1 AMER1 NRAS H19 HERC1 IGF2 AKT1 MESD PTEN HP_PRENATAL_MOVEMENT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MOVEMENT_ABNORMALITY ACTA1 ARV1 CCDC174 TRAK1 WDR62 ALDH7A1 NALCN DOK7 TRIP4 ADGRG6 NTRK2 SCYL2 KLHL41 GABRG2 LMNA SLC1A2 MYMK MTMR14 BICD2 FLII CHRND TPM3 PREPL GABRB2 MAP3K20 MAGEL2 RAI1 POLR2A NECAP1 CPLX1 COL12A1 HDAC8 SNRPN NUP188 MYL1 GLDN MEGF10 SZT2 SCN8A NSD2 NEB DHCR7 NEK9 VPS13B PPM1B STXBP1 ZMPSTE24 MYF6 NDN RYR1 SYT2 PRUNE1 SLC3A1 LMOD3 PHGDH CLTC GABRA2 ALG9 ALG14 DEAF1 ITGA7 CHRNA1 PSAT1 DNM2 ASCC1 MYH3 CAMKMT DNM1L SMC1A GBA NELFA SETD5 SELENON SNAP25 HCN1 CDK19 MUSK HERC2 MYOD1 RAPSN SYNGAP1 SYNE1 PTRH2 TRPV4 ATP6V1A GLE1 PWAR1 SLC5A7 NUP88 MTM1 CHAT SCN3A CHRNG IQSEC2 TPM2 NFASC COX15 KCNA2 AGRN CACNA1A KIF5C BIN1 PAX7 ODC1 PEX3 NPAP1 RET COL6A1 YWHAG DMPK GFPT1 SMC3 FXR1 SNORD116-1 SLC18A3 CHRNE VAMP1 USP7 GMPPB IGF2 SLC25A1 ASCL1 HSPG2 CNTNAP1 ZBTB42 FGF12 IL2RB UBA1 LETM1 COL13A1 KCNB1 CRPPA H19 GPKOW MKRN3 ALG8 SNORD115-1 COL6A3 GBE1 FGFR3 MYH7 AARS1 DALRD3 GRIN2D PIGS PPP3CA ZC4H2 NIPBL KBTBD13 COL6A2 HACD1 AP3B2 IGHMBP2 KMT2A MYO9A OCA2 TRAIP B3GLCT DNA2 ERCC5 MPZ PEX19 SMN1 SYNJ1 NUS1 SLC13A5 MYL2 PHOX2B CTBP1 LGI4 PWRN1 KLHL40 SLC25A26 FGFRL1 CYFIP2 WWOX UBA5 TOR1A CACNA1B PLOD1 CNKSR2 GABRA5 MYPN EEF1A2 SLC25A19 ERBB3 MYCN PARS2 TBCK ACTL6B DNM1 RAD21 EBF3 CNTN1 TSFM EXOSC9 TMCO1 DHDDS HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID PIGW PUF60 BUB1B FOXE1 NALCN TRIP4 ADGRG6 STRADA DHPS HBA1 TBX1 KIDINS220 SPINT2 SCYL2 FARSB BRCA1 LMNA KCNJ1 NPHP3 RPGRIP1 ACTA1 CHRND CALCRL CEP55 MAP3K20 MRPS22 HBA2 B3GALT6 AGTR1 KIF14 SEC24C KRAS TBC1D24 WDR81 MEG3 ITGA8 NEB ASXL1 FANCM FXR1 HYMAI SLC26A2 LMOD1 RSPO2 RNU4ATAC MYF6 DLK1 SYT2 EP300 SEMA3E AGT CLTCL1 RYR1 ABCB4 TMEM107 B3GLCT INPPL1 PDSS2 BMPER ITGA7 FGF20 CHRNA1 DNM2 WNT4 LHX1 XRCC2 GP1BB SNAP25 MUSK PKLR MYOD1 MKS1 DYNC2LI1 TSEN54 HRAS NEK8 VAC14 MTM1 NUP88 GRM7 MBTPS2 BRAF CHAT INVS UBE2A CBL AGRN ALB EXT2 DALRD3 LBR BIN1 LARS2 ODC1 TMEM70 DHCR7 CERT1 COQ7 RET CLCNKA RAD51 DMPK TTC7A SLC18A3 RTL1 VAMP1 TRPV6 MAMLD1 KLHL41 IGF2 ITGB4 TMEM216 HSPG2 CNTNAP1 YWHAE PGAP2 TTC37 PIGA COL13A1 FANCD2 COMT COG5 FUT8 SETD1A ALG8 MADD SMG9 GBE1 BNC2 WDR73 ACE C1QBP GPC4 CHRM3 CD96 GLE1 DIS3L2 BUB3 ENPP1 TCTN2 MAGED2 NECTIN1 PTH1R VANGL2 CREBBP PIEZO1 ALX4 ABCB11 IRF6 RPL10 RIT1 ERF TRAIP PAFAH1B1 ERCC4 GBA GNPTAB HSD17B4 AMMECR1 PLEC WNT3 RPL11 MYL2 PIGY SLC12A1 ABCC6 SLC25A24 OSGEP ALG12 KAT6B KLHL40 SLC25A26 SOX9 CLCN7 FANCC DPM2 DYNC2I1 LIFR SPOP SLC35D1 PBX1 MYPN TRIP13 SEC24D NRAS UBE2T ADARB1 TPM2 TBCK WDR35 PLVAP MAD2L2 LTBP3 AQP2 CNTN1 EXOSC9 ACTG2 TMCO1 HSPA9 GLI3 DOK7 PGAP3 FLNB COX14 TP63 KIAA0586 NR1H4 GMPPB EXTL3 MTMR14 MAFB DOCK6 PIGN UFD1 FOXF1 SLX4 AMER1 TPM3 TMEM231 BUB1 FARSA PLAGL1 KDM3B FANCB GLDN HYLS1 SLC5A7 REN DONSON COQ2 NEK9 RREB1 PKHD1 ZMPSTE24 POR ESCO2 PALB2 HIRA RRAS2 GPC3 B9D1 DYRK1A LMOD3 PHGDH PMM2 KCNJ6 SNRPN ALG14 HADHB FANCI ALG9 ASCC1 MYH3 BSND RAD51C PIGV PIGL SHOC2 FANCE CHRNG SELENON CFL2 DYNC2I2 MYH11 ALG1 SOX17 CEP290 JMJD1C AVPR2 CLCNKB ALPL ERGIC1 TAPT1 HNF1B SLC25A1 ASCL1 ZBTB42 SIN3A ATRX KIF7 H19 HADHA RAF1 TRIP11 GREB1L DZIP1L FGFR3 BRIP1 EFEMP2 DDX6 PIGQ IARS1 CC2D2A COL2A1 EBP FIG4 FBN1 ZC4H2 KBTBD13 B9D2 HACD1 LONP1 MTHFR CEP57 ADAT3 FANCF TCTN3 PNPO RAPSN PCGF2 HMGA2 TBCD PRRX1 ATAD3A PHOX2B SNRPB CHD7 SLC9A3 ARVCF MSX1 SLC26A3 BRCA2 HOXD13 GATA6 WDPCP IBA57 TMEM67 TOR1A CPT2 RPGRIP1L CSPP1 TALDO1 ADAMTS3 PIGO FBLN5 ITGA6 MYO9A ATP8B1 FLVCR2 FANCL PLAG1 CRB2 ERBB3 MYCN RFWD3 OTX2 FANCG FANCA MYLK CDKN1C KLHL7 EBF3 TRAPPC12 PSAT1 HIC1 HP_POLYHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYHYDRAMNIOS MTM1 KRAS BUB1B FOXE1 NALCN DOK7 ADGRG6 STRADA HBA1 TBX1 KIDINS220 SPINT2 FLNB SCYL2 TP63 KIAA0586 LMNA KCNJ1 EXTL3 MTMR14 MAFB NPHP3 PIGN ACTA1 SLC26A2 UFD1 CHRND FOXF1 ASXL1 AMER1 TPM3 CALCRL ACTG2 MAP3K20 PAFAH1B1 HBA2 BUB1 KDM3B SEC24C ITGB4 TBC1D24 WDR81 MEG3 GLDN HYLS1 SLC5A7 DLK1 NEB RREB1 LMOD1 RSPO2 ZMPSTE24 MYF6 ESCO2 RYR1 HIRA PLEC SYT2 RRAS2 EP300 SEMA3E GPC3 DYRK1A LMOD3 PHGDH B3GLCT INPPL1 KCNJ6 ALG14 ITGA7 CHRNA1 DNM2 ALG9 ASCC1 MYH3 GP1BB SNAP25 MUSK BSND MYOD1 TPM2 DYNC2LI1 TSEN54 NUP88 HRAS VAC14 SHOC2 PTH1R GRM7 TMCO1 BRAF CHAT CHRNG SELENON CFL2 CBL AGRN DYNC2I2 EXT2 MYH11 LBR BIN1 SOX17 ODC1 DHCR7 JMJD1C RET CLCNKA KLHL41 AVPR2 DMPK TTC7A SLC18A3 CLCNKB ALPL RTL1 VAMP1 TAPT1 TRPV6 MAMLD1 SLC25A1 ASCL1 HSPG2 CNTNAP1 ZBTB42 YWHAE SIN3A KIF7 TTC37 PIGA COL13A1 COMT FUT8 RAF1 TRIP11 MADD SMG9 GBE1 FGFR3 GPC4 CD96 PIGQ COL2A1 GLE1 DIS3L2 BUB3 ENPP1 EBP FIG4 MAGED2 NECTIN1 VANGL2 CREBBP PIEZO1 ZC4H2 IRF6 RPL10 FANCB KBTBD13 RIT1 HACD1 ERF LONP1 TRAIP MTHFR CEP57 GBA ADAT3 HSD17B4 RAPSN AMMECR1 PCGF2 TBCD WNT3 PRRX1 RPL11 MYL2 ATAD3A PIGY PHOX2B SLC12A1 SNRPB ABCC6 CHD7 SLC9A3 ARVCF MSX1 ALG12 SLC26A3 HOXD13 KAT6B KLHL40 SLC25A26 SOX9 IBA57 CLCN7 TOR1A DPM2 DYNC2I1 ADAMTS3 ITGA6 MYO9A FLVCR2 SPOP SLC35D1 MYPN TRIP13 CRB2 ERBB3 MYCN NRAS OTX2 ADARB1 WDR35 MYLK PLVAP LTBP3 KLHL7 AQP2 CNTN1 TRAPPC12 PSAT1 HIC1 HP_OLIGOHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOHYDRAMNIOS CHRM3 HSPA9 PIGW ERGIC1 PUF60 PKHD1 GLI3 HNF1B NALCN PGAP3 TRIP4 IGF2 ASCL1 TMEM216 DHPS HBA1 COX14 MKS1 FARSB BRCA1 PGAP2 TMEM70 ATRX GMPPB TMEM231 NPHP3 FANCD2 COG5 DOCK6 H19 RPGRIP1 SETD1A ALG8 SLX4 AMER1 GREB1L BNC2 WDR73 DZIP1L ACE C1QBP BRIP1 CEP55 EFEMP2 HBA2 FARSA PLAGL1 B3GALT6 DDX6 AGTR1 FANCB IARS1 CC2D2A KIF14 BUB1B TCTN2 ITGA8 FBN1 WNT4 REN DONSON ALX4 FANCM COQ2 NEK9 FXR1 HYMAI RNU4ATAC POR B9D2 PIGY PALB2 TBCK ERCC4 AGT CLTCL1 FANCF GNPTAB B9D1 DYRK1A TCTN3 TMEM107 PDSS2 HMGA2 MYH3 BMPER SNRPN FGF20 FANCI PHOX2B LHX1 ALG9 XRCC2 SLC25A24 OSGEP BRCA2 GATA6 WDPCP RET TMEM67 FANCC RAD51C CPT2 RPGRIP1L CSPP1 TALDO1 PIGV NEK8 PIGO FBLN5 PIGL LIFR PBX1 MBTPS2 FANCL PLAG1 FANCE SEC24D UBE2T INVS UBE2A RFWD3 FANCG ALB FANCA DALRD3 MAD2L2 CDKN1C LARS2 CEP290 CERT1 COQ7 RAD51 EBF3 EXOSC9 HP_FETAL_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_POLYURIA MAGED2 CLCNKA GREB1L BSND RET ITGA8 FGF20 SLC12A1 KCNJ1 CLCNKB HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS ATRX DNMT3A ANKRD11 GATAD2B STAG1 ALX3 CHSY1 HP_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODONTIA KCNMA1 BRF1 DOCK3 DDX6 RLIM MGAT2 BPTF TP63 MSX1 KMT2E MYT1L PSMD12 TRMT1 CTCF ACTL6B BCORL1 FBXW11 COL11A1 ANKRD11 SVBP TBC1D24 MED13 GRIA3 NECTIN1 NTNG1 TCF20 GJA1 CDK10 VPS13B PQBP1 IRF6 PURA DHX37 ACTL6A TANC2 BRCA1 SMOC1 KCNK9 WDFY3 VPS51 ZMIZ1 MBD5 TRAPPC4 FARS2 HP_MOOD_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOOD_CHANGES NOTCH3 SATB2 AIP DMPK VPS13A GNAS USP8 GRIN2A SRPX2 PDE11A NAGS CREBBP EP300 GABRG2 TUBB3 MIR17HG GALC PRKAR1A SLC6A17 HP_PRIMARY_HYPERCORTISOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERCORTISOLISM MEN1 GNAS CDKN2C CDKN1B CDKN1A CDKN2B PDE11A PRKACA PRKAR1A HP_RECURRENT_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SKIN_INFECTIONS LYST ZAP70 CIITA STAT1 SRP54 RFXAP GFI1 CYBA TMC6 DSG1 IL6R IL2RG MVK EGFR LAMB3 RFXANK CARMIL2 ZNF341 CFI CARD9 TCF3 GINS1 CHST14 DCLRE1C RFX5 IL17F BLNK PSENEN PGM3 SHANK3 GJC2 USP8 TFRC SP110 CD3D MYD88 CTSC DOCK8 CD247 HYOU1 AP3B1 CIB1 FERMT3 WDR1 NFKB1 CD79B KRT14 POLR3A XIAP IL2RA GJB2 BTD FERMT1 JAK3 MBL2 ELANE ITGB4 PIK3CD NCF2 NCF1 CLEC7A IGHM BTK DSE FOXP3 COL7A1 TMC8 GATA1 AIRE CDH23 SREBF1 CD3E FOXP1 STAT3 IL17RA FOXC2 ADAM17 LAMC2 IL10RA IGLL1 GJB6 KRT5 LRRC8A MMP1 UROS LAMA3 CYBB EPG5 UBE2A PIK3R1 PSEN1 ITGA6 KRT1 KNSTRN IL7 CD79A MRTFA TCIRG1 NFE2L2 HP_REDUNDANT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_SKIN CLIP2 EXT1 TBL2 ATP6V1A RPS6KA3 SLC6A8 TBX15 PTDSS1 AEBP1 DSE PITX2 CEP55 SLC25A24 KRAS TWIST2 NAA10 HRAS GPX4 PYCR1 ELN GGCX EED FBLN5 SUZ12 SLC2A10 BRAF CD96 MRPS22 EZH2 GORAB CSPP1 VAC14 MRPS16 BAZ1B LIMK1 NDUFB11 FOXC1 ADAMTS2 NSD1 RTL1 ALDH18A1 MEG3 FIG4 GTF2IRD1 DLK1 GTF2I HPGD FGFR3 TRPS1 RIN2 KIAA0586 RFC2 ATP6V1E1 ATP6V0A2 WDR37 MAP2K1 COL3A1 CHST14 ANTXR1 FGF20 NPR2 NDUFB10 PEX1 EFEMP2 ATP7A MAP2K2 HP_ROTARY_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROTARY_NYSTAGMUS TELO2 NPHP4 ERLIN2 GJC2 PNPO LYST PPP2R5D MPC1 ACBD5 SLC16A2 PLP1 GFER HP_BELL_SHAPED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BELL_SHAPED_THORAX SNRPB FGFR2 BMPER COL2A1 TBX15 COL11A1 DDRGK1 KDELR2 HHAT CEP120 CANT1 IFT172 DYNC2I2 KIAA0586 COL11A2 CSPP1 PAX7 SLC26A2 PAM16 XYLT1 ANTXR1 INPPL1 PEX1 DDR2 UBE3B HP_SELECTIVE_TOOTH_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELECTIVE_TOOTH_AGENESIS B3GLCT GJA1 ATR TP63 DLX3 IRF6 BMP4 WNT10B CDH1 CEP152 CDH3 ATP6V1B2 NAA10 DDX59 EDA RIPK4 NEK1 EIF4A3 FLNA DLX4 BCOR GLI2 GREM2 ARHGAP29 FGF3 MSX1 DLG1 NECTIN1 BLM HP_ABNORMAL_HAIR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_MORPHOLOGY NDUFA4 CDH11 SOX4 FSHR FOXL2 SF3B4 SUZ12 SHANK3 SLC9A6 ABCC9 ZIC1 SPATA5 ERCC3 CYFIP2 B9D1 KDF1 PREPL KANSL1 SOX10 TRPS1 SLC45A2 PRKAR1A MAGEL2 MAN1B1 TBC1D20 ARL3 RAC1 SNRPN SLC29A3 ARID1A ITGB4 NSD2 HTRA1 CBS NSDHL ASXL1 GSN MSX1 KATNIP NSUN2 ACTL6A RNU4ATAC NDUFA12 FUCA1 STAT3 GLI1 MSTO1 KCNH1 BRF1 LHX4 B3GALT6 BRCC3 PROP1 CDON COX7B DEAF1 EGFR ZMPSTE24 SOS1 ADNP DSTYK LMX1B NELFA MEN1 COL18A1 KCNE5 PYCR2 CARS1 LAMC2 WNT10A BRAF SKIV2L TTI2 SATB2 ERCC8 MAP3K1 FOXN1 NBN MBTPS2 HLA-DRB1 CCDC8 UQCRFS1 CERS3 NDUFS2 GJB6 COG7 POLR1B CDSN ODC1 DCLRE1C DHCR7 NPAP1 HPDL DVL3 SMC3 DKC1 SNORD116-1 DPH1 IGF1R AIP MAF HSPG2 SIN3A TTC37 CHMP1A TMEM216 KMT2E RLIM DLX4 MKRN3 ANAPC1 GJB2 POMC MT-TF FDFT1 TUBGCP6 ALX3 TECPR2 CRKL RAG1 LSS BSCL2 PIGS ZFPM2 UBE3A ABCD1 RPL10 TWIST2 RIT1 TACO1 DYNC2LI1 TRAIP ZBTB20 C12orf57 PPP1CB PIGK NR0B1 PEPD EFNB1 IL1RAPL1 HESX1 GTF2H5 NR3C1 UBE3B RBM10 TRAPPC9 NIPAL4 OCA2 IFT172 HDAC8 CEP120 PHF8 LPAR6 TCF12 SLC19A3 NDUFB8 NSD1 TAF1 AR GJA1 CHN1 KMT2D PSMD12 B4GALT7 LTBP3 TP63 ZEB2 RNF113A NECTIN1 NPHP1 FGFR2 COG4 NOP10 MTAP ANTXR1 NRAS RPL5 TBCK LIPH ERCC4 HCCS ALOX12B WDFY3 ASXL2 NKX6-2 FRAS1 RERE TMCO1 SDR9C7 KCNMA1 KIT LAMB3 CACNA1G COLEC10 HPGD NUP107 SURF1 PGAP3 VPS37A CDH1 NR5A1 SMCHD1 ZNF469 SUMF1 RRAS2 DOCK7 PIGV TARS1 PAX3 MKS1 CASR TCIRG1 AMMECR1 XYLT1 TRMT1 FBXO11 SMC1A TERT ANKRD11 TBC1D24 SETD1B ZNF462 MED13 BMP1 PDE4D ESCO2 NFKB1 UBR1 HEPHL1 WRN RBM28 ITGA3 PDE6D RAG2 FRG1 LIG4 MT-TS2 EZH2 HPS1 ERCC2 BCR WT1 PIK3CD DENND5A MDM2 VDR RMRP GATA1 TGM1 ERLIN2 DSP HPD LMNA STAG1 FOXP1 INSR SLC39A4 CDH2 CEP41 SHOC2 SETD2 POT1 CDK13 TRIO DHX30 NEPRO CHST3 KRT71 FGF3 MYO5A ACVR1 CAVIN1 KRT83 KDSR KDM5C BRCA1 LIPT1 KCNK9 GRIP1 TBX3 CBL TLK2 STN1 CPLANE1 UQCC2 EDARADD RPL27 FGFR1 SLC7A7 PEX6 FMR1 ADAMTS3 CNOT2 CD28 CYP19A1 XYLT2 MAB21L2 KRAS CYP17A1 IARS2 FGF8 TBCD STUB1 ASPM USB1 PLAA NDN KRT17 ACTG1 ST14 NIPBL HERC1 KRT16 CANT1 POR CCBE1 DLX3 PIGY RPS7 WDR35 TFAP2A RAI1 KIF11 MTX2 MAP2K1 COX15 BLM UROC1 KRT86 TINF2 DMPK PCGF2 TAF6 PHGDH MED13L KDM1A ARX CHD7 MESD FTL TCOF1 FLI1 HDAC4 GUSB PPARG HPS5 AFF4 HRAS TALDO1 PIGO EDA2R PHF6 EVC2 OTX2 HNRNPU THOC6 GNE TFAP2B COL17A1 NDUFS4 PIGU RIN2 KLHL7 STAMBP CSNK2A1 GATAD2B PSAT1 ATP7A TBL1XR1 CWF19L1 MEOX1 IFT43 PIGW SMPD4 DSG1 STRADA PNPLA1 FGFR3 TMEM231 TSR2 TRMT10A TENT5A KMT2A GDF6 MT-ND1 MLXIPL HFE MCCC2 MBD5 PRKACA ZNF711 CPLX1 OCRL CDH23 PTPN22 TYR SETBP1 AXIN2 CACNA1F EDAR BCOR MT-CO1 BLOC1S3 EVC ATRX SLC17A5 CHD1 COL11A1 ATP2A2 DMRT3 TSC1 SRCAP TMEM67 AUTS2 FREM1 IGF1 CC2D2A SNX14 ALX1 ARHGEF2 AIRE RIPK4 LMNB2 PPP1R15B FBN1 FRMD4A ADAM17 ATP6V1B2 COL3A1 PWAR1 SHMT2 WASHC5 SPECC1L SNAI2 CCDC47 UBE2A COL1A2 HLCS KRT25 SMARCAL1 CTC1 ARL6 NFIX ALMS1 RPS28 CERT1 PROK2 CEP104 NDUFV1 MAB21L1 ZIC2 SMARCA4 RPGRIP1L LARP7 RECQL4 SPRY4 DNMT3B PCNT POLR1C GNPTAB DPF2 ABCA12 PRDM5 JUP SPRED1 TMEM94 IFIH1 DSG4 LETM1 LHCGR POLR3A CDC45 FOXC2 FLNA NDUFAF3 MPLKIP KISS1R TRIM32 MT-CO3 CTSC PEX7 ACD NFKBIA AHCY CTCF IRF6 SUOX BTD ANOS1 VAMP7 AHI1 SRY GNRHR GTF2E2 ATP6V1A NDUFS7 BTK FGD1 SRA1 ARHGAP31 CDC42 ANTXR2 PERP DPM2 RALGAPA1 GJB4 SEMA3E MTOR PIK3C2A NDUFAF2 RPL21 FOXA2 NDUFAF5 FAM111B MC1R HPS3 NTRK1 ATP6V1E1 UGP2 PCSK1 PACS1 RAB18 HR HSPA9 APC WDPCP SNRPE AEBP1 LAMTOR2 SMO CPOX ACSL4 ATP6V0A2 KDM6A RASA2 ZNF341 EPS8L3 ATRIP FLII ARID1B BAP1 PARN MID1 VPS33A ATR INPP5E RAF1 CKAP2L TRPV3 KIF7 RAB3GAP2 NSMF NOTCH3 MEGF8 SRD5A3 BBS10 FEZF1 SEC23A TANC2 CCDC22 RPL35 CNBP SETD5 IL2RG RPL31 HPS6 SPIDR BCL11B ECM1 NRXN1 SLCO2A1 COX5A PPP2R1A CAMKMT MED12 PACS2 CLP1 ARL13B USP9X TGDS TUBGCP2 BMP2 ABHD5 GAD1 CHSY1 UROS BBS7 CDK19 IQSEC2 TBX2 MT-TH NDUFS1 AIMP2 PLOD3 MASP1 FAR1 LRMDA CLDN1 DLK1 COG6 MAP2K2 DLL4 KRT85 TBX15 SCARF2 EP300 NBAS EDNRB NXN MGP TYRP1 VPS35L PIK3R1 BBS1 FGF17 EMC1 CDK5 PTPN11 NDUFS3 LIPN SOX11 MKKS SVBP WAC MEG3 APCDD1 FBXL4 MITF BBS4 SLC25A24 KIAA0586 TTC7A SALL4 BANF1 KRT81 BBS12 PRRX1 ATAD3A RAB3GAP1 HS6ST1 FOXP3 TMEM237 HUWE1 TERC CTBP1 PWRN1 KAT6A SREBF1 FAT4 RPS26 LRP1 DOLK TWIST1 CCDC141 TUBGCP4 ELN APTX BCORL1 IKBKG HGSNAT SYT1 PDGFRB POP1 LZTR1 STING1 KCTD1 PORCN SRD5A2 RPS27 PLEC MAPRE2 ZC4H2 YARS2 TP53 OFD1 ARSB MT-CO2 WWOX WNT4 LYST PUF60 NDUFA13 ACER3 KMT2C ARMC9 WNT5A GNRH1 IFT122 BCS1L BTNL2 PAH CEP152 XPC DDB2 RTEL1 EOGT IFT27 CTNS PLCD1 NOTCH1 CREBBP IDS FAM20C ALOXE3 CENPJ KIFBP ADA2 PPM1B KCNJ8 RAD21 KRT74 PDHA1 BPTF ALDH18A1 CYP4F22 LHB MT-ND5 NFKB2 PADI3 WDR11 CTLA4 RUSC2 HERC2 MT-ND6 NHP2 APOE ABCA2 KCNK4 ACTB ORC1 VAC14 KRT10 SIM1 EDNRA MT-TL1 SMARCA2 TGM3 DCAF17 GLI2 PLK4 SMS IRAK1 SOX18 CENPE SNX10 RPS15A NDUFA9 YY1 TNFRSF1B CHRNG PYCR1 PKP1 NOVA2 PSMC3IP MN1 SPINK5 PUS1 PGAP2 DTNBP1 HMGA2 FUT8 SNORD115-1 MADD RPL11 RPS19 EDN3 KLF13 MED25 GNA11 CTDP1 TCTN1 CDH3 NAA10 SHROOM4 UGDH WDR19 PIGL NDUFAF6 HECW2 ALX4 SMARCD1 PQBP1 BBS9 RPS10 ABCA5 TACR3 AKT1 NDUFV2 CDK4 OAT NUS1 FOXE1 NDUFB11 OBSL1 FHL1 DVL1 WDR81 RRAS PIBF1 SLC24A5 FOS TRNT1 SPOP MT-TW ITGB6 CUL7 EPG5 SMARCC2 CWC27 AIFM1 TTC8 KNSTRN EDA FGF5 POC1A POLA1 SEC31A IL7R ERCC6 NECTIN4 MYT1L HPS4 MAPK1 NANS AXL ACTL6B LEMD3 TNFSF11 SOX6 NUP188 FOXP2 FAM149B1 DNAJC21 PROKR2 H6PD CAV1 TRRAP RPL15 HNRNPK RPS6KA3 TUBB ORC6 ALDOA HSD3B2 USP8 DDX6 KIAA0753 KITLG TMEM138 ALG9 KNL1 SMARCE1 TCTN2 SON CNOT3 EXT2 IDUA EHMT1 KCNN3 STAT4 MGMT NEK1 CTU2 NAGLU STAG2 ZMIZ1 PHIP INTS1 SLC35A2 CUL4B MMP2 EBP PUS7 ATP10A ERCC5 DUSP6 MTFMT GAN MOGS CCDC28B MT-TQ CDK10 RPL35A PRDM16 SLC45A1 IL2RA DNMT3A AGPAT2 ADAT3 PEX19 MMP14 CST6 ZNF423 NF1 IFT52 GLI3 ATM PPP2R3C GLB1 PRKD1 SDCCAG8 TERF2IP POLR1D SASH1 MYO18B TRAPPC4 KISS1 FBXO31 RAC3 SUCLA2 ARID2 SLC6A17 MEIS2 CTNND1 SLC35C1 CDKN2B CYP11B1 RAB27A FBXW11 RBBP8 ADAMTS2 RBPJ PSMB8 PET100 GTPBP2 NEU1 HBA2 SMARCD2 RPS23 SLC3A1 SOS2 B3GLCT OTUD6B DOCK3 PRKCD GATA4 MAP3K7 WDR26 ADA AHSG SGSH C8orf37 PTDSS1 XRCC4 RET CNTNAP2 ASL NTNG1 TCF20 KRT14 INTU NFIB PURA NOTCH2 MRAS FZD2 CRIPT CSTB PAPSS2 CSPP1 GPRASP2 ECHS1 ASXL3 COG5 FOXRED1 EED CD96 SLC30A2 WNT10B CHRNA7 ERMARD BBIP1 B3GAT3 AP1B1 KANK2 DHX37 COLEC11 KCNAB2 TAC3 HBA1 SZT2 LAMA3 STXBP1 CAMK2G GJB3 NPM1 EXOSC2 MAN2B1 SOX9 KREMEN1 BMP15 RPS24 KAT6B SLITRK1 CDKN2A COL7A1 SDHA RPL18 SLC12A6 GABRD FREM2 PEX1 DUX4 ADARB1 HOXC13 MT-ND4 TCTN3 CLMP LRPPRC SMARCB1 KRT6A NDUFA2 PPOX BNC1 MGAT2 SULT2B1 LZTFL1 SPP1 ELMO2 DOCK6 AP3D1 POU1F1 NDUFA10 ZSWIM6 VPS13B SLC9A7 PTEN VPS51 POLR3H MEF2C CDKL5 A2ML1 MAFB NEK9 KLHL24 GPR101 SMAD4 PIGN RPL26 MED12L CYB5A SKI XPA TCHH SMOC1 KRT1 DSC3 CNP MYH3 NDUFS8 ROR2 WRAP53 IRX5 ECEL1 MAP1B HYLS1 UROD SH2B1 GDF3 PNPLA6 GNAS RPS17 CCNK LRP2 RNF125 EXOC8 CEP290 GNA14 LAS1L FIG4 APC2 DMXL2 SLC1A4 SLC6A9 AP3B1 BBS5 RTL1 MMP1 FSHB EXT1 CLCN7 GNS ARMC5 MLPH TRAF6 FAS RHOA FGFRL1 RPS29 TBX4 SOX3 TASP1 MRPS22 VARS1 DSC2 KRT6B HLA-DRA EBF3 BBS2 SCO2 HP_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA ALOX12B TP63 CD28 DSG4 LAMB3 MBTPS2 ECM1 IL7R RNF113A SNRPE SPP1 PNPLA1 WNT5A FGFR1 FLI1 ZNF341 EPS8L3 NECTIN4 BTNL2 CASR XPC DDB2 ATR BTD RTEL1 HR EOGT HFE MCCC2 KANSL1 NOTCH1 TERT TRPV3 RIPK4 PRKACA SLC29A3 RBPJ GTF2E2 PTPN22 TINF2 ALOXE3 ITGB4 HTRA1 NSDHL EDAR IKBKG NFKB1 COL17A1 UBR1 IL2RG NRAS LMNA RBM28 CLDN1 FOXN1 LSS RAG2 KRT74 HRAS KDM5C CHD7 SOX18 NFKB2 ZMPSTE24 ALX4 KLHL24 PRKCD PADI3 VDR AIRE TGM1 ACVR1 ARHGAP31 DSP CTLA4 COL18A1 RMRP SLC39A4 LAMC2 COL3A1 DVL3 KRAS WNT10A ADA AHSG XPA KRT86 ABHD5 RNU4ATAC EDNRA MPLKIP ANAPC1 BCS1L HLA-DRB1 UQCRFS1 GJB2 SMARCA2 CERS3 KRT83 KRT14 TGM3 DVL1 DCAF17 GJB6 HLCS KDSR STAT4 CTC1 WRAP53 DCLRE1C IRAK1 ALMS1 FZD2 NHP2 BLM CSTB TNFRSF1B DKC1 PKP1 UROD GJA1 LIG4 RECQL4 DLL4 KRT85 ERCC3 PLEC TERC ABCA12 EDARADD JUP PNPLA6 NXN RAG1 MGP RPL21 EBP PIK3R1 OFD1 STUB1 PORCN SLC30A2 GNA11 USB1 ERCC5 UROS KRT17 PEX7 DMXL2 AP1B1 ABCD1 KRT16 APCDD1 LIPH PARN BMP2 IL2RA LAMA3 ERCC2 ANTXR1 TTC7A TARS1 MMP1 GJB3 KRT81 GTF2H5 DMPK NPM1 EXOSC2 BTK FOXP3 NIPAL4 AEBP1 ODC1 LPAR6 ROR2 RHOA DOCK6 SREBF1 FTL SLITRK1 PERP COL7A1 GJB4 NECTIN1 FAM111B NOP10 ITGB6 ERCC4 SASH1 KRT6B RIN2 HLA-DRA KRT6A HP_ABNORMALITY_OF_THE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NAIL KDM1A CLIP2 IFT43 CD28 DSG4 PIGW UBR1 COL17A1 SOX4 VEGFC NOG EVC SOST WNT5A IFT122 DSP PNPLA1 KCNH1 TINF2 SHANK3 ARID2 LMNA FLT4 KCNA1 ATR GDF5 RTEL1 CCDC22 EOGT MLXIPL PLCD1 CYB5A KDF1 NOTCH1 ATP2A2 PIGQ KRT5 TRPS1 GJB2 SMARCAD1 LIG4 SIK1 CPLX1 ALOX12B NSD1 RBPJ TBC1D24 KRT6B ALOXE3 PEX6 ARID1A HLA-C KCTD1 GTF2I ITGB4 NSD2 TSC2 NSDHL GSN MSX1 HYMAI EDAR RIPK4 LAMA3 KRT14 SMARCD2 FOXN1 COL7A1 ALG3 STAT3 GLI1 NECTIN1 RAB3GAP1 KRT74 LAMB3 CYP4F22 TSC1 IRF6 ROR2 INPPL1 TELO2 PDE4D TBL2 DLX3 TP63 LMX1B TFAP2A BMPER GPC3 NFKB2 WNT10A SLC25A22 PLEC AIRE FUCA1 ARHGAP31 CTLA4 ADAM17 NHP2 ATP6V1B2 CTSK LAMC2 IHH DYNC2LI1 SHOC2 ORC1 HRAS SETBP1 VAC14 KRT86 SATB2 LIMK1 ATL1 FGFR2 MPLKIP HGD MBTPS2 SLURP1 SCN1B GJC2 CERS3 GJB6 UBE2A FTO CKAP2L COL2A1 ADAMTSL2 DHX37 CTC1 LBR HUWE1 ODC1 NOTCH2 KRT1 FZD2 TGM1 BLM CSTB TET2 CDKL5 TNFRSF1B TRAF3IP2 DKC1 DPH1 PKP1 RECQL4 NOP10 CENPT ENG AIP PIGB MAF DPF2 TERC GPC4 ABCA12 PGAP2 PEX7 EDARADD PIGA JUP CARD14 IFIH1 RLIM LETM1 POLR3A DSG1 EED WNT7A ANAPC1 FTL COL14A1 WDR73 CSTA FOXC2 GNA11 GJA1 TREX1 CRKL STIM1 IFNG RETREG1 CTSC PEPD BMP4 WDR19 AP1B1 KANK2 SMARCD1 SCN2A IL36RN KCNN3 MAPK1 MAP2K1 DMXL2 ZBTB20 PPP1CB ERCC2 ANTXR1 ACD STXBP1 TAT EFNB1 SRY AKT1 CAMK2G GJB3 EVC2 ACAN ABCA1 CDIN1 GNAO1 GTF2H5 RUNX2 ZSWIM6 NSUN2 NPM1 PEX1 FERMT1 NIPAL4 SLC25A24 NDUFB11 WRAP53 TAF1 LRP4 FHL1 IL17F DVL1 POMP TRPV3 PERP LPAR6 TBX4 SMARCE1 KRT16 GJB4 ELN B3GALT6 MMP1 FAM111B MACROH2A1 KRT81 SMARCC2 FGF9 NTRK1 HOXC13 SLC35D1 IGF2 HCCS AAGAB CWC27 SOX18 TERT SMARCB1 KRT6A ZMPSTE24 SCN9A FGFR1 SDR9C7 POC1A RSPO1 INSR RPS6KA3 HPGD GLI3 PGAP3 CDH1 RNF113A SULT2B1 PTDSS1 HOXA13 ATP6V0A2 PIGV APC NECTIN4 DOCK6 CASR PIGN KIF1A ARID1B KIF15 PARN SUZ12 WDR35 SRCAP PLAGL1 FLNB RAB3GAP2 ACVRL1 LORICRIN GTF2E2 ZNF462 GTF2IRD1 DNAJC21 PITX1 RNU4ATAC IKBKG BHLHA9 PTEN TRRAP COL11A2 RFC2 HEPHL1 ITGA3 KRT9 DST CAST PNKP EZH2 PRKAR1A BCR SLCO2A1 RNF13 KLHL24 WASHC5 GPR101 WNK1 COL11A1 PRKACA EXT2 SMARCA4 SLC39A4 DVL3 MCTP2 BMP2 PPM1D PIGL SETD2 NEPRO SF3B1 KRT83 NEUROD2 OFD1 KDSR CLEC7A PLOD3 NLRP1 TBX3 KRT17 KIF22 DLK1 MAP2K2 UROD DLL4 CYB5R3 KRT85 RSPO4 ERCC3 EGFR SREBF1 MVK PQBP1 UBA1 KRAS SHOX NXN PIGP EBP TRIM8 BRAF PORCN FZD6 USB1 SOX11 EDA LIPN FIG4 CDSN RAB7A APC2 ACTL6B IL17RC CD151 MEG3 SIN3A PIGY RTL1 ACTG2 DLX5 AP1S3 RERE KIF11 MTX2 TTC7A TARS1 TCTN3 PRKACB PPP2R5D HMGA2 COX7B HFE IL17RA FOXP3 TRAF6 CTBP1 IFT52 FGFRL1 ADNP CASK CPT2 AFF4 PIGO ITGA6 BAZ1B ARX PLAG1 PRKD1 STK11 IL11RA GRHL2 POP1 STING1 PHYH FLNA BMPR1B CDKN1C SASH1 STAMBP NPR2 UMPS DPM1 ECE1 HP_CONCAVE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NAIL GTF2H5 PLCD1 LMX1B MPLKIP HRAS EDA GTF2E2 SLURP1 ERCC3 RNF113A ERCC2 TRPS1 MSX1 TARS1 HOXC13 HP_ABNORMALITY_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LARYNX KCNMA1 RSPO1 WDR35 TBX3 PUF60 MLH1 GLI3 FOXE1 C2CD3 PPARGC1A TONSL TBX1 PRMT7 SF3B4 FLNB MKS1 PRRX1 EXTL3 APC MGP UNC13A SOD1 BTD SLC26A2 UFD1 CHCHD10 GLT8D1 AMER1 KANSL1 FGFR2 SEC24C FLNA KRAS MEG3 HYLS1 DLK1 EPHA4 TSPYL1 SETBP1 RREB1 RSPO2 POR C9orf72 TP53 GRIN2A HIRA EP300 SEMA3E RAI1 AHDC1 PFN1 NIN FRAS1 ASAH1 SOX4 BRF1 ORC6 SRPX2 GP1BB NLRP1 SMAD4 NEK1 OPTN DYNC2H1 LRP4 MAP3K7 UBQLN2 DYNC2I2 PON3 LAMC2 HAAO TARDBP EFL1 FIG4 NEFH MSH2 AFF4 INTU SNIP1 TAF15 DAO SATB2 CCNF NFIX GMNN LBR SPECC1L SOX9 GRIP1 MDM2 DHCR7 SERPING1 KIF22 JMJD1C MT-CYB PON2 GALC VPS13B WRN VAPB SCARF2 HSPG2 LAMB3 CDKN2A KIF7 EIF4A3 COMT PSAP PCNT PORCN TREM2 RPL10 MYMK RTL1 PRPH MSH6 PKDCC CAT PTH1R CREBBP TBK1 POLR3A GLE1 LONP1 MATR3 FUS PLP1 ANXA11 FERMT1 DYNC2I1 TCTN3 LTBP4 WNT3 KAT6A SCN4A LRP12 GABRG2 CHMP2B COL12A1 CHD7 ARVCF HOXD13 KAT6B EDN1 PLG TAF1 CASR HDAC4 ATP6V1E1 ATXN2 RALGAPA1 CFAP410 CHEK2 ERBB4 FREM2 LMNA IFT80 PON1 SYT1 LAMA3 HNRNPA1 ADARB1 ANO3 LTBP3 DCTN1 VCP SQSTM1 MEIS2 ANG UBE3B HP_LARYNGOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOMALACIA KCNMA1 SOX4 BRF1 LTBP4 ORC6 TBX1 KAT6A SCARF2 COL12A1 HSPG2 PRMT7 EP300 GP1BB CHD7 ARVCF HOXD13 KIF7 KAT6B APC LRP4 COMT UFD1 CREBBP HYLS1 HDAC4 AHDC1 PSAP ATP6V1E1 PCNT RALGAPA1 AFF4 KANSL1 FGFR2 RPL10 SEC24C RTL1 PKDCC EFL1 MEG3 LMNA DLK1 SYT1 SETBP1 RREB1 ADARB1 POR SATB2 NFIX GMNN POLR3A SOX9 TBX3 HIRA JMJD1C SEMA3E MEIS2 GALC TCTN3 VPS13B WRN UBE3B HP_LARYNGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STENOSIS SLC26A2 EXTL3 MYMK GRIP1 FREM2 FLNB KIF22 LAMC2 LAMA3 LAMB3 FRAS1 SMAD4 FERMT1 HP_VOCAL_CORD_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARESIS SLC5A7 TRPV4 GDAP1 MATR3 LONP1 PRX MFN2 HP_VOCAL_CORD_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARALYSIS SDHD MATR3 ATXN3 MAX PRX DNMT3A SDHAF2 TRPV4 GDAP1 PMP22 MDH2 SDHB TMEM43 MFN2 RET TRIM2 DKK1 EPAS1 DCTN1 LMNA VHL ELN SDHC MLXIPL EMD DLST SLC5A7 POLA1 TMEM127 SDHA SLC25A11 SYNE2 FH SLC52A3 NF1 SETBP1 MYCN FHL1 LONP1 SYNE1 TRAPPC12 KIF1B HP_SUBGLOTTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBGLOTTIC_STENOSIS TBX3 LTBP3 FLNA MAP3K7 GRIP1 EFL1 FREM2 TONSL AFF4 FRAS1 NIN SNIP1 HP_ABNORMALITY_OF_THE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VOICE RNASEH2B CLIP2 ANOS1 NALCN MED12 DDRGK1 TBX1 MGP TRMT10A SAMHD1 PMP22 ACTA1 PROKR2 SCN4A MAPT MLXIPL PREPL MAP3K20 IDS LARGE1 IL17RD DGUOK MAGEL2 FBXW11 OCRL HDAC8 FKTN SEC24C BMP4 SNRPN ATXN2 SPART GTF2I TSPYL1 SETBP1 ABAT TGM6 ADH1C PPM1B ACTL6A NDN FHL1 GNAS TP63 VPS13A GARS1 SYT2 TOR1A MT-TV SPEG CRYAB AGA MSX1 WWOX SLC3A1 AR TBL2 DGCR8 SLC19A2 TFAP2A DOCK3 FAM111A TRIM37 DEAF1 PRX ITGA7 DNAJB2 SDHAF2 MT-ND1 TRPV4 GP1BB FTL NLRP1 WDR11 CHAT SMC1A HESX1 SELENON UBB DYNC1I2 THAP1 SNAP25 RBBP8 ACAN PPP1R15B FBN1 HERC2 UPF3B LAMC2 NF1 FGF8 PWAR1 HRAS SLC5A7 SLC18A2 SLC26A2 LIMK1 IRF6 CNTNAP2 MPLKIP GRHL3 MORC2 SLC25A11 COL6A3 ATXN3 GRIN2A NTNG1 TCF20 KANSL1 AGRN ADAMTSL2 SMARCAL1 NOTCH3 SMS SPECC1L RNASEH2C NPAP1 LRRK2 PROK2 MT-TK ARHGAP29 GBA GFPT1 SMC3 SNORD116-1 SEMA5A IFIH1 SLC18A3 WRN TTN CHRNE STAG2 POMT2 VAMP1 IQSEC2 SPRY4 DCC IGF1R AIP PCNT GDAP1 GMPPA HSPG2 GNPTAB GPC4 NR4A2 SLC2A3 SEMA3A CDC73 COL13A1 EIF4A3 POMT1 KMT2E COMT TSHR DCTN1 DLX4 MKRN3 SNORD115-1 EED VHL DLG1 ITPA FGFR1 DLEC1 POLD1 MYH7 P4HB KISS1R GNAL NLRP3 NECTIN1 LEMD3 MT-ND2 PQBP1 IGHMBP2 TAC3 FGF17 SYNJ1 SDHB ERCC2 BIN1 BRAF DGCR2 PTPN11 TACR3 CHRNA1 NONO GNRHR IL1RAPL1 NSMF GTF2H5 TK2 MT-TW MAX MYL2 LRP12 OCA2 PHF8 SERPING1 RNF6 LAMB2 SDHC ADGRG1 PSMD12 KCTD17 POMGNT1 NOTCH2 MT-ND5 DLST GALT ZDHHC9 ELN PRKRA GNAI3 GMPPB SRPX2 LAMA3 SEC24D NDNF RAPSN ORC4 COQ9 B4GALNT1 C1R RAF1 SNCAIP LTBP3 RYR1 WDFY3 RAD21 MECP2 KRT6A B3GALNT2 EXOSC9 GNE POC1A KIF1B LMNA SEC31A KMT2B MT-ND4 ATP6AP2 TUBB4A CTNND2 ECM1 RNF113A TSHB TMEM43 PODXL MFN2 DGCR6 REV3L TPM3 DUSP6 ATP6V0A2 POLG VPS35 MYT1L EPAS1 DNAJC13 UFD1 FLII ARID1B MAPK1 BSCL2 TPM2 AMER1 SUZ12 TRMT1 ACTL6B GLUD2 FEZF1 SRCAP SOD1 RAI1 THRA GTF2E2 MED13 FOXP2 GTF2IRD1 MEGF10 FH SLC52A3 ESS2 VPS13B RREB1 TANC2 RFC2 ALDH18A1 MYPN CYP27A1 HIRA MGME1 AFF2 SDHD EZH2 STAT5B ERCC4 GPC3 ASAH1 ADAR FIG4 PLEC NRXN1 FKRP DDX6 LIFR OPA1 TRIP4 NEU1 TWNK MYOT MDM2 PRPH GPR101 MYH3 SMAD4 SNCA CAMKMT PIGN SETD5 FOXP1 SIM1 GHR DKK1 FBXO7 EMD MT-ND6 POLA1 SDHA CDH1 SHOC2 MT-TL1 MT-ATP6 SYNE2 EIF4G1 CHD7 AP4E1 TGFBR2 RIN2 KCNK9 KRT17 HS6ST1 INPP5K JMJD1C CCDC141 ZMIZ1 DLK1 ALPL FLNA FMR1 CNOT2 NIPBL ERCC3 SLC25A1 DNAJC6 TRPS1 CRLF1 SIL1 BAG3 LAMB3 SIN3A RET TRIM2 STX16 TRH PYROXD1 COLQ PANK2 PLCB4 TMEM127 SVBP EDA SH3BP2 TREX1 KRT16 MEG3 HACD1 TTC19 KMT2A RTL1 ZMPSTE24 LONP1 MATR3 MTX2 TARS1 RARS1 ATP5F1A BLM HTT PNPO FRRS1L ASPA PLXND1 RLIM DNMT3A SPG7 GABRG2 MDH2 XRCC4 RNASEH2A TBP BPTF SNRPB ARVCF PWRN1 CIZ1 SOX10 ATXN8OS SERPINH1 LMNB1 ZFYVE26 BCORL1 BAZ1B MYO9A FLRT3 NSD1 GIGYF2 PAX8 HMBS MYCN LAMA2 PI4KA GNRH1 MT-ND3 SRD5A2 KRT6B NEFH SYNE1 MYH14 TRAPPC12 TRAPPC4 KISS1 COQ2 CWF19L1 HP_HOARSE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_VOICE RNASEH2B ADAR CLIP2 MATR3 IQSEC2 FLNA TBL2 ECM1 SLC19A2 DEAF1 LIFR AIP SDHAF2 LEMD3 DDRGK1 TSHB RNASEH2A GNPTAB GPR101 MFN2 LAMB3 NLRP1 GPC4 TRPV4 LTBP3 SERPING1 SDHD PIGN CDC73 SAMHD1 ACAN FBN1 TSHR TRH FLII ARID1B EED MAPK1 ELN IDS SDHC SUZ12 MLXIPL LAMC2 EZH2 HRAS RAI1 BAZ1B SLC26A2 LIMK1 THRA ASAH1 NSD1 EDA KRT17 PAX8 GTF2IRD1 SPART TREX1 GTF2I LAMA3 KRT16 MEG3 C1R RFC2 SPECC1L RNASEH2C RTL1 KRT6B AFF2 MYH14 KRT6A DLK1 AGA GNE IFIH1 GPC3 HP_NASAL_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_SPEECH VAMP1 IQSEC2 NALCN CNOT2 TBX1 MED12 SELENON SLC25A1 GMPPA CRLF1 SLC3A1 BAG3 DGCR6 TPM3 ATP6V0A2 MGP COL13A1 KMT2E COMT MYT1L UFD1 MKRN3 SNORD115-1 PYROXD1 TPM2 AMER1 PCNT TRMT1 ACTL6B PREPL DLG1 NECTIN1 SRCAP FBXW11 SEC24C BMP4 SVBP MED13 MEGF10 UPF3B ESS2 PQBP1 RREB1 PPM1B ACTL6A TANC2 MYPN SRPX2 TP63 TFAP2A HIRA MGME1 SYT2 DGCR2 MSX1 NONO IL1RAPL1 MATR3 GRIN2A PLEC DGCR8 MYH3 DOCK3 SNRPN DDX6 LIFR RLIM SPG7 LRP12 MYOT BPTF SNRPB GP1BB PHF8 CAMKMT ARVCF PWRN1 UBB DYNC1I2 SNAP25 DLX4 HERC2 PSMD12 NDN SMS PWAR1 SLC5A7 ZDHHC9 BCORL1 SLC18A2 MYO9A IRF6 CDH1 SHOC2 GRHL3 NTNG1 TCF20 CHAT KANSL1 AGRN MAGEL2 NPAP1 JMJD1C WDFY3 ARHGAP29 ZMIZ1 TRAPPC4 SNORD116-1 SLC18A3 HP_WEAK_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_CRY ACTA1 CHRNE VAMP1 ASPA TPM3 SNRPN MYL2 ITGA7 OPA1 NIPBL TRIP4 SLC25A1 CHAT SELENON SNAP25 COL13A1 SIM1 LAMB2 COLQ MAP3K20 MYH7 SLC5A7 MAGEL2 MYO9A FKTN TPM2 LAMA2 VPS13B RAPSN AGRN COQ9 HACD1 IGHMBP2 SPECC1L RYR1 LAMA3 SYT2 CRYAB GFPT1 EXOSC9 CHRNA1 SLC18A3 ASAH1 HP_HOARSE_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_CRY ASAH1 SPECC1L TSHR RTL1 PAX8 LAMA3 TSHB LAMC2 LAMB3 DLK1 PIGN MEG3 HP_DYSPHONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHONIA SDHD KMT2B CLIP2 VAMP1 TUBB4A ERCC3 RNF113A SLC25A1 SDHB HSPG2 SIL1 MFN2 FTL TTN RET STX16 COL13A1 POLG EPAS1 GNAS VHL PANK2 CRYAB SOD1 DGUOK TMEM127 EDA GTF2E2 GNAL SLC5A7 SDHAF2 GTF2IRD1 FH GTF2I TGM6 TTC19 RFC2 ALDH18A1 CYP27A1 VPS13A MGME1 SYT2 ERCC2 DCTN1 BIN1 SPEG TARS1 RARS1 NONO AR ASAH1 GTF2H5 FIG4 TBL2 MAX DNMT3A DNAJB2 NEU1 TWNK MDH2 PRPH PRKRA CIZ1 THAP1 SNAP25 LMNB1 ADGRG1 KCTD17 SDHC ZFYVE26 DLST RYR1 BAZ1B LIMK1 MYO9A ELN SDHA MPLKIP HMBS SLC25A11 COL6A3 SRPX2 CHAT NF1 PI4KA AGRN B4GALNT1 NOTCH3 KCNK9 INPP5K NEFH SLC18A3 KIF1B COQ2 SEC31A HP_HIGH_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PITCHED_VOICE FMR1 MYH7 P4HB MORC2 TRIM37 FAM111A CTNND2 IGF1R PCNT HSPG2 SELENON MDM2 XRCC4 SEC24D PPP1R15B ORC4 MED12 ADAMTSL2 RIN2 SMARCAL1 TRMT10A RBBP8 GHR SERPINH1 ZMPSTE24 ARID1B BSCL2 MTX2 STAT5B SEMA5A ITPA BLM ERCC4 SRCAP POC1A POLD1 LMNA TTN HP_WEAK_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_VOICE MATR3 TK2 ATP6AP2 TRIM37 DCTN1 POLG ATXN2 MAPT HSPG2 SLC52A3 DNAJC6 PODXL TBP FTL NR4A2 ADH1C GBA ATXN8OS SNCAIP SYNJ1 GARS1 GLUD2 HP_PREMATURE_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_BIRTH PEX11B DLL4 CYP11A1 ZIC2 SHH COL11A1 SLC27A4 FGFR1 TRIP4 SMPD4 KLHL41 PEX12 FDXR ITGB4 DHPS NDUFB3 SF3B4 FLNB NR1H4 TMEM70 KIF7 LMNA KCNJ1 KRAS SIX3 COL5A2 PEX19 EOGT HYLS1 PEX6 NOTCH1 BRAF SFTPC NUP133 ABCB4 NDUFB11 PEX2 HDAC8 CRKL ADAMTS2 RPL10 DISP1 RBPJ ACTA1 TPM3 ABCA3 FBN1 MAGED2 PTH1R RPS19 DHCR7 PNPO DLL1 COL1A1 CNOT1 ABCB11 NIPBL GALK1 PEX10 MEG3 ZMPSTE24 TPRKB TP53RK MAPK1 ESCO2 IGHMBP2 KMT2A SERPINE1 MAP2K1 RTL1 NODAL NEB PEX16 GATB SLC17A5 GBA ABCA12 SUFU LMOD3 BCR TGIF1 FZD4 PEX5 PEX26 SLC12A1 GLI2 ASCC1 LRP5 GAS1 PEX13 SMC1A SLC26A3 NLRP3 HOXD13 FGF8 SETD5 KLHL40 ATP8B1 ARHGAP31 DOCK6 MUSK FLI1 BSND CLCN7 LAGE3 PLEC OSGEP COL3A1 GATC RALGAPA1 CDON RNU4ATAC TDGF1 QRSL1 DLK1 HRAS STRADA WDR4 THOC2 SARS2 FLVCR2 AIMP1 MYH7 CRB2 FOXH1 TSHR SFTPB ALB PTCH1 PEX1 PEX3 WDR73 COL5A1 FIG4 CLCNKA COL1A2 RAD21 NDP MED12 NUP107 SMC3 STAT2 MAP2K2 PEX14 CLCNKB HP_BREECH_PRESENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREECH_PRESENTATION SHPK KLHL41 OPA1 ACTA1 NEB MYPN PTPN23 DHCR7 MYH3 COL1A2 MKS1 SLC26A2 TPM2 KBTBD13 KLHL40 COL1A1 TPM3 CRTAP LMOD3 PEX1 ORC1 KDM3B HP_ABNORMAL_MITRAL_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITRAL_VALVE_MORPHOLOGY CLIP2 FLNA RPS6KA3 KRAS FMN2 NKX2-5 AEBP1 FBN2 ZNF469 TPM3 BRAF GBA SH3PXD2B BCOR EXTL3 PRDM5 COL5A2 POLG TBX20 IFIH1 SKI HRAS CCDC22 MMP2 LMNA FBN1 HGD ACTC1 MAPK1 TPM2 IDS MLXIPL ABCC6 COL1A2 SMAD4 FIBP FMR1 MYH6 COL2A1 B3GALT6 SLC29A3 TGFBR1 TNXB MYH7 B3GAT3 GTF2IRD1 PLD1 GTF2I COL1A1 VPS13B DSE TAB2 MFAP5 PKD1 RFC2 GATA6 MYPN HCN4 NOTCH1 CBS ZMPSTE24 ANK1 MTX2 XYLT2 PTPN11 TGFBR2 GNPTAB CLIC2 BRF1 TBL2 MMP14 PCGF2 COX7B VWF SELENON XYLT1 WASHC5 NDUFB11 MAP3K7 BICC1 ELN ATP6V1E1 SACS RYR1 COL3A1 NF1 RPL5 MCTP2 DCHS1 LTBP3 BAZ1B LIMK1 SMAD3 GANAB MMP21 CITED2 CHST3 GJA1 TGFB2 ENPP1 CCNQ DZIP1 RAF1 HCCS COL5A1 ZIC3 GATA4 PKD2 MED12 PLOD1 TLL1 TTN HP_MITRAL_VALVE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_VALVE_PROLAPSE CLIP2 FLNA KRAS FMN2 AEBP1 FBN2 ZNF469 TPM3 SH3PXD2B BCOR EXTL3 PRDM5 COL5A2 POLG SKI HRAS MMP2 FBN1 MAPK1 TPM2 MLXIPL ABCC6 COL1A2 SMAD4 FIBP FMR1 COL2A1 B3GALT6 SLC29A3 TGFBR1 TNXB MYH7 B3GAT3 GTF2IRD1 PLD1 GTF2I COL1A1 VPS13B DSE TAB2 MFAP5 PKD1 RFC2 MYPN HCN4 CBS ANK1 BRAF XYLT2 PTPN11 TGFBR2 CLIC2 BRF1 TBL2 MMP14 PCGF2 COX7B VWF SELENON XYLT1 NDUFB11 MAP3K7 BICC1 ELN ATP6V1E1 SACS RYR1 COL3A1 NF1 RPL5 DCHS1 LTBP3 BAZ1B LIMK1 SMAD3 GANAB LMNA CHST3 TGFB2 ENPP1 DZIP1 RAF1 HCCS COL5A1 PKD2 MED12 PLOD1 TTN HP_CONGESTIVE_HEART_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGESTIVE_HEART_FAILURE STAT1 CLIP2 VCP PPARG SURF1 TRIP4 TMEM127 MT-TS2 NKX2-5 STRADA PRKAR1A SDHB HBA1 SMAD4 PLN MT-CO3 ALMS1 ATXN7 FGD1 HBB CASR EPAS1 VHL DSP PPA2 ACTN2 ACTC1 ENPP1 TTN SLC19A2 VPS33A TRPM4 MYH6 HFE CAV3 IDS HBA2 AGGF1 BAG3 NDUFB11 MT-TF GTPBP3 MT-TK CDH23 PSMB8 SDHAF2 ATP6V1A GTF2IRD1 FH MT-TE RPS19 GTF2I CAV1 FBLN5 ENG IKBKG MECP2 TMEM43 RFC2 GATA6 DES ABCC6 BSCL2 COL1A1 SLC17A5 RYR1 SDHD TUBB TNNI3 ADCY5 PRDM16 TBL2 RAB3GAP2 PSEN2 TRIM37 HADHB MT-TC SELENON MT-TL1 EYA4 SCN1B ACVRL1 LMNA SNAP29 CACNA1S FBN1 GAA XYLT2 SLC2A10 PRKAG2 SCN4A MT-TV MYH7 KIF1B ACAD9 LIMK1 SDHA SLC25A11 CITED2 DTNA CCR6 SF3B1 NF1 CAVIN1 MT-CO2 TNNI3K NDUFS2 LDB3 COG7 ADAMTSL2 HAMP SLC22A5 SCO1 JUP HADHA TMEM70 MAX GATA4 MT-CO1 MT-CYB FLNA TET2 EFEMP2 TLL1 ATP5F1A WRN GLA MST1 GJA1 PTEN GNPTAB SLC25A3 RASA1 FXN RET TBX20 NDUFAF1 IFIH1 TPM1 MYSM1 DNAJC19 GATAD1 MT-TQ GNA11 CEP19 NDUFAF3 MYPN MT-TW MT-ND1 GDNF BMP2 TF TNNT2 MT-ND6 AGPAT2 TPI1 TAZ HNRNPA1 GPR35 GDF2 CLIC2 DNMT3A VCL MDH2 XYLT1 ELAC2 PSEN1 SCN5A FLNC SLC25A26 NDUFB8 SGCD NSMCE2 PEX7 HJV AFF4 SDHC PLOD1 DLST MYD88 HLA-DRB1 IRF5 BAZ1B GLB1 ELN FOS HNRNPA2B1 CCN2 EPG5 RBM20 KCNJ5 DMD MT-ND5 MTTP MYLK2 PNPLA2 MAPRE2 COL1A2 MYL3 PHYH TCF4 FGFR3 CP SCO2 BCHE HP_TETRALOGY_OF_FALLOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRALOGY_OF_FALLOT CHRM3 JAG1 CLIP2 SALL4 DLL4 ZIC2 SHH TBX1 FGFR1 NID1 CXCR4 SF3B4 MYRF DGCR6 RBM8A BRAF GATA4 DDX59 BRCA1 TTC37 ZFPM2 SIX3 GATA6 TMEM94 NXN FANCD2 COMT PIGN MKKS CCDC22 NOTCH2 UFD1 PIGL ARID1B CDK8 CACNA1C EOGT FOXF1 SLX4 HIBCH EHMT1 NOTCH1 BRIP1 FOXC2 GJA5 FANCB GDF1 SEC24C RBM10 DISP1 RBPJ FIG4 NKX2-6 INTU NKX2-5 GTF2IRD1 GTF2I ZEB2 DLL1 FANCM ESS2 PQBP1 DDX11 RREB1 RAB23 RNU4ATAC WT1 KCNAB2 PRDM16 RFC2 PALB2 FN1 CRELD1 NODAL HIRA GATA5 RRAS2 SEMA3E ERCC4 FLT4 DGCR2 FANCF SUFU TGIF1 TBL2 DGCR8 TMEM260 RPL11 COX7B FANCI GLI2 ALX1 ARHGAP31 WASHC5 XRCC2 GP1BB CHD7 SPECC1L GAS1 ARVCF BRCA2 DACT1 FGF8 SLC35A2 ROR2 DOCK6 FANCC RAD51C RPL5 CDON TDGF1 ALX3 SKI SKIV2L TAB2 VAC14 BAZ1B LIMK1 ELN GABRD NR2F2 PUF60 SALL1 FANCL FANCE FOXH1 STRA6 UBE2T UBE2A RFWD3 COL2A1 FANCG FANCA PTCH1 MAD2L2 JMJD1C RAD51 PAH CHD4 CITED2 RERE HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY CLIP2 NDUFS4 NDUFA4 UBR1 DMD FKRP NDUFA13 DSP RMRP KCNH1 BRCA1 AIP BCS1L MIB1 IDH2 NDUFV1 MMACHC TNNI3 RAF1 KANSL1 PLN CAV3 MRPS22 STAT4 FKTN MT-TK IL23R MT-TE TNNC1 NEB GSN FANCM GJA5 GPX4 PEX10 KCNJ8 NDUFA12 BSCL2 VPS13A CAP2 MT-TV TANGO2 PHKA2 PDHA1 LMNA TXNRD2 EPG5 TBL2 BRCC3 MT-ND5 SLC19A2 FXN TCAP GPC3 ITGA7 ADCY5 EYA4 XRCC2 MTO1 GNE MT-ND6 LAMP2 UBAC2 SDHA LAMC2 GATC MYBPC3 NF1 GAA XYLT2 BRAF NDUFA1 POLG2 POMT1 NEK8 VAC14 FHL2 LIMK1 KIF20A MT-TL1 TOP3A UQCRFS1 CSRP3 PTPN11 NDUFS2 LDB3 FTO PRKAG2 PCCB ATAD3A SGCA TMEM70 C4A NDUFA9 ACTA1 RAD51 ANKRD1 COX10 PEX12 MLX TNNT2 NDUFAF1 CISD2 FANCD2 MYPN HRAS HADH ANKS6 CCR1 ACADS SLC30A10 MT-TF TAF1A MYH7 PEX7 GMPPB GLA TMPO NDUFAF6 MT-ND2 SOS1 AHCY RIT1 TACO1 MAP2K1 FASTKD2 PPP1CB ERCC2 D2HGDH LTBP4 GTF2H5 NDUFV2 SLC25A20 NDUFA11 XK ERAP1 TPM1 MYL2 XYLT1 COL7A1 TTN SLC25A4 NDUFB11 PNPLA2 SLC19A3 NDUFB8 ANK1 SGCD FHL1 NDUFAF4 NEXN FANCC TNFRSF1A DES TAZ NBAS DLD HLA-B CLPB MEFV ELN FOS GATA4 TRNT1 ACTC1 MT-TW NRAS SCARB2 TPM2 HCCS MAD2L2 JPH2 NAGA PHYH TPI1 COA8 RERE SBDS KRAS SURF1 RNF113A ERCC6 COX14 TTR TIMMDC1 SPTA1 USP9X NDUFS6 COA5 FLAD1 SLX4 TPM3 SMC1A NUP107 ANKRD11 HAMP FAS GTF2IRD1 PYGM ACAD8 RFC2 PALB2 TGFB1 MT-TS2 PEX14 TWNK MAP2K2 RBCK1 HPS1 NDUFA10 PRDM16 ADAR PMM2 PSEN2 HADHB OPA1 MYOT TMEM126B INSR IDUA BBS2 FLNC COG7 SHOC2 BOLA3 HADHA MT-ATP6 LAMA4 FANCE NDUFS3 GYS1 CAVIN1 COX15 SLC22A5 LIPT1 IL12A-AS1 NAGLU SGCB MRPL44 TKFC IKZF1 PPCS VCL MYOCD BAG3 SYNE2 LAMB3 SCN5A SDHD HSD17B10 POMGNT1 CHKB MYSM1 DNAJC19 GATAD1 SARDH DSG2 MIPEP HBB NDUFS1 MMUT IGF2 NDUFS8 POLG MTFMT TREX1 PPA2 MT-TQ KBTBD13 ABCC6 HACD1 HCN4 RYR1 GATA5 AGPAT2 TARS1 FANCF MYH6 NDUFB9 DMPK ACTN2 NEBL COX7B RNASEH2A NDUFS7 RNU4ATAC HJV ADA2 GUSB CPT2 CRYAB QRSL1 BAZ1B COQ4 MRAP GLB1 KLRC4 FANCL WARS2 KCNQ1 KCNQ1OT1 WFS1 ERBB3 TMEM126A LAMA2 VHL RMND1 SPEG ACADVL MYL3 IDS PEX2 MYO18B NDUFB10 RNASEH2B ATP5F1E PPARG TRIP4 PEX19 PKP2 TTPA EPB42 SAMHD1 CPT1A HAND2 PCCA MT-ND1 HFE MAP3K20 COA6 PEX1 PET100 ATP6V1A GTF2I DOLK MT-CO1 IL12B TGFB3 LIMS2 DCAF8 ALG1 TRIM37 NDUFAF2 SELENON MLYCD SDHAF1 PEX13 PHKG2 RYR2 SGSH SHMT2 MT-ND3 FAH SLC40A1 MPLKIP NDUFAF3 MICOS13 DTNA IL12A ENPP1 TNNI3K NNT RNASEH1 CDKN1C RNASEH2C ALMS1 NDUFA6 SUFU MC2R IFIH1 PEX11B GBA GNPTAB SPTB SLC25A3 COQ2 NAXD MRPS14 ECHS1 JUP FOXRED1 GBE1 C1QBP GPC4 ITPA PEX6 KAT6B USP8 MT-CO3 SRP54 KCNAB2 YARS2 ERCC4 NUBPL HNRNPA1 TK2 KLHL41 ERCC8 NONO DPM3 GABRD MMP1 NDUFAF5 LAMA3 ACAD9 MEN1 UBE2T SLC4A1 MT-ND4 PARS2 SDHB PIGT POMT2 TERT TSFM NDUFA2 VCP TMEM43 PEX5 VPS33A PDGFRA FANCB GTPBP3 GTF2E2 IL10 LIAS SCO2 ATP5MD DNAJC21 SERPINE1 MGME1 MYOZ2 AARS2 CENPE ANO5 RAB3GAP2 FANCI ABCC9 GPR101 MT-TT PEX26 POMK RAD51C MT-TN SLC2A10 SKI EMD NEU1 ABHD5 GYG1 PGM1 MT-TH NDUFB3 AGL DLK1 COX6B1 TAPT1 ERCC3 PYGL STAR ATPAF2 AGK RRM2B BRIP1 CAV1 ATP5F1D FIG4 NPPA MEG3 FBXL4 MRPL3 PEX16 BMP2 RTL1 PSEN1 CLN3 KLF1 GNS TLR4 XRCC4 ELAC2 BRCA2 CDH23 PEX3 HMGCL HNRNPA2B1 HGSNAT RFWD3 NDUFAF8 FANCG RBM20 FANCA DSC2 MYLK2 SYNE1 TFR2 ARSB MT-CO2 HP_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_CARDIOMYOPATHY RNASEH2B NDUFA11 CLIP2 MT-ND4 NDUFS4 ACTC1 NDUFA4 ATP5F1E KRAS PPARG NDUFA13 SURF1 TMEM43 COX14 TTN BRCA1 TMEM70 BCS1L TTPA TIMMDC1 NDUFV1 HSD17B10 SAMHD1 CPT1A NDUFS6 PPA2 COA5 BSCL2 SLX4 MT-ND1 VPS33A RAF1 NDUFA10 CAV3 SMC1A MRPS22 NDUFS2 COA6 FANCB MT-TK HADHA FOXRED1 PET100 LIAS ATP6V1A GTF2IRD1 MT-TE GTF2I FANCM NDUFV2 SCO2 PYGM ATP5MD NDUFB10 KCNJ8 MT-CO1 RFC2 PALB2 MT-ND2 NDUFA12 DES FHL1 IL12B TNNT2 TGFB1 NF1 MT-TV MT-TS2 TANGO2 MYOZ2 AARS2 PDHA1 MAP2K2 MYH6 ADAR NDUFS8 ALG1 TBL2 MT-ND5 OPA1 FANCI GPR101 XRCC2 MTO1 NDUFAF2 TMEM126B SDHAF1 PTPN11 MT-ND6 LAMP2 NDUFA2 RAD51C GTPBP3 MT-TN SDHA GAA BRAF SLC2A10 SHOC2 NDUFA1 EMD HRAS NEK8 SGSH SHMT2 MT-ND3 ACAD9 LIMK1 FAH NDUFAF5 COG7 BOLA3 MT-TL1 MT-ATP6 NDUFAF3 SYNE2 KIF20A MICOS13 FANCE UQCRFS1 NDUFS3 CAVIN1 FTO MT-TH NDUFB11 NDUFS1 NDUFB3 NNT SLC22A5 LIPT1 RNASEH2C ATAD3A NAGLU NDUFA6 MRPL44 NDUFA9 TKFC SUFU RAD51 INSR MC2R DLK1 IFIH1 MLX COX6B1 TAPT1 SLC25A4 NDUFAF1 AIP PYGL MAP2K1 GNPTAB BAG3 SLC25A3 ABCC9 COQ2 SDHD FXN PMM2 STAR MRPS14 ECHS1 ATPAF2 FANCD2 MYPN AGK MYBPC3 HADH ANKS6 SLC30A10 SARDH MT-TF BRIP1 MIPEP MYH7 CAV1 MT-CO3 MTFMT GLA TREX1 NDUFAF6 SOS1 MT-TQ MEG3 RIT1 TACO1 FBXL4 MYL2 MRPL3 RTL1 FASTKD2 YARS2 PPP1CB ERCC4 NUBPL PRKAG2 AGPAT2 TAZ CLN3 COX15 FANCF NDUFB9 KLF1 GNS MT-TW NDUFS7 TPM1 COX7B VCL LMNA NDUFAF4 FLNC RNASEH2A TNNI3 ELAC2 BRCA2 SLC19A3 NAGA NDUFB8 TXNRD2 FANCC QRSL1 CRYAB DLD BAZ1B COQ4 HLA-B MRAP GLB1 ELN FOS GATA4 TNNC1 FANCL HGSNAT MEN1 NRAS TMEM126A UBE2T RFWD3 NDUFAF8 FANCG FANCA HCCS SDHB MAD2L2 MYLK2 ACADVL MYL3 SYNE1 TSFM TPI1 COA8 MT-CO2 HP_CARDIOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOMEGALY RNASEH2B CLIP2 TET3 COX6B1 TAPT1 MAT2A GNPTAB TGFBR2 TTR ABCC9 PRKG1 HSD17B10 SAMHD1 IFIH1 MYBPC3 ACTN2 CACNA1C ACTA2 HFE C1QBP SMAD4 PLAGL1 SLC29A3 HEXB ENPP1 IGF2 PSMB8 FIG4 B3GAT3 GTF2IRD1 PIGS CPT2 TREX1 GTF2I SMAD3 COQ2 NEK9 HYMAI FOXE3 KCNJ8 CPT1A RFC2 WDR37 ELN MYH11 BMP2 TGFB3 FUCA1 PAM16 GATB SLC17A5 GBA FBN1 MYLK CLIC2 HBB ADAR PDSS2 TBL2 COX5A RNASEH2A ABCC6 DSP ACADM LAMP2 PEX7 PRKAR1A NAGA GAA PRKAG2 NEU1 VAC14 BAZ1B LIMK1 MFAP5 TGFBR1 LOX NHLRC2 KCNQ1 CHST3 KCNQ1OT1 ALPK3 CDKN1C SLC22A5 TGFB2 DYSF JUP LBR RNASEH2C NAGLU MTTP ZIC3 MT-CYB PHYH STAT2 HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY CLCN7 DLL4 TBX1 A2ML1 SOS1 RAF1 GP1BB ARVCF RRAS2 DACT1 NRAS RASA2 ROR2 ARHGAP31 DOCK6 NXN DAXX COMT UFD1 PIGL TCIRG1 PRKAR1A EOGT IDS DDX3X FLT4 DYRK1A NOTCH1 RRAS TNFSF11 ZEB2 TGFBR1 POLA1 SEC24C PTPN11 RBPJ RIT1 SALL1 LZTR1 ATRX RREB1 POLR3A TMEM70 MRAS KRAS HIRA SNX10 B3GLCT JMJD1C CBL BRAF FOXF1 KIF7 TGFBR2 RNF135 SOS2 HP_PULMONIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONIC_STENOSIS CLIP2 KRAS NRXN1 SURF1 DSG1 MAP2K1 KDM6A NOTCH1 TTC37 BCOR CHST3 LZTR1 PRDM5 MGP NEK9 ELN HRAS SMC3 CCDC22 NOTCH2 RAF1 ANKS6 MLXIPL RAD21 NF1 KANSL1 SARDH BRAF NDUFAF3 SLC29A3 GDF1 ADK B4GALT7 ZEB2 SOS2 GTF2IRD1 PSMD12 WNT4 GTF2I CREBBP SOS1 MAP2K2 FBN1 TAB2 RPL27 RAB23 RIT1 ACAD8 RFC2 TBCK POLR3A SMAD3 GATA4 SGO1 B3GLCT PPP1CB EP300 SEMA3E PTPN11 BPTF TBL2 IGFBP7 GPC3 MRAS ADAMTS10 GPC4 ARHGAP31 WASHC5 CDC42 GATA6 KAT6A LTBP2 NDUFB8 CHD7 G6PC3 MAP3K7 FBLN5 FLT4 SHOC2 BMP2 NEK8 BAZ1B LIMK1 TRAF7 CNTNAP2 ALDH18A1 STRA6 NRAS TBX2 ZNF469 NDUFS2 WAC CYP24A1 DCHS1 ZIC3 FKTN ENPP1 FBXW11 FAT4 RNF135 SCO2 HP_PATENT_DUCTUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_DUCTUS_ARTERIOSUS CLIP2 MYH11 PUF60 GJA5 KRAS GLI3 TRIP4 STAG2 CALM3 C2CD3 FBN2 TBX1 TGFBR2 ARFGEF2 SF3B4 KCNH1 MKS1 SHANK3 ACSL4 CEP120 PRKG1 BRCA1 LMNA BCOR TTC37 CD96 IGBP1 COG6 RAB23 FLNA USP9X UFD1 ARID1B AMMECR1 FOXF1 ACTA2 SLX4 AMER1 VPS33A KAT8 TGFBR1 AGGF1 SMAD4 PLAGL1 FANCB GJA8 NPHP3 SEC24C TBC1D24 NSD1 ARF1 MEGF8 BMPR1A ZEB2 GTF2IRD1 PLCB3 GTF2I YY1AP1 DHCR7 SMAD3 FANCM HYMAI RREB1 THOC6 KCNJ8 ZMPSTE24 USP18 ESCO2 WT1 TRRAP ARX CCDC22 RFC2 WDR37 PALB2 ELN TMTC3 ANK1 RPS26 MYCN HIRA EP300 SEMA3E POLR1A ZNF148 KYNU PEX1 EOGT BPTF FBN1 MYLK DYRK1A B3GLCT TBL2 PIGN SNRPN GPC3 SNX14 FANCI GPC4 ASCC1 XRCC2 GP1BB SPECC1L ZMIZ1 LMX1B CHD7 SON EXT2 MAP3K7 SOX2 KCNE5 PTPN11 RAD51C CREBBP MASP1 SSR4 RPL5 DYNC2LI1 BRAF SKI CTCF SKIV2L ACTB MCTP2 DHCR24 LIMK1 TRAF7 MFAP5 TP63 SETD2 GATA4 MYH7 SALL1 DTNA FANCE GJA1 KANSL1 PRDM6 PHGDH TBX2 UBE2A AFF4 KCNN3 FTO COL18A1 NR2F2 TGFB2 MAF NFIX LARS2 NADSYN1 CTU2 NOTCH2 ZIC3 MAP1B JMJD1C RAD51 DVL3 CHRM3 RAC1 PACS1 MAT2A RSPRY1 TKT POLR1C MAP2K1 MYOCD MYRF PIGT ABCC9 NCAPG2 TBX5 SIX6 DNMT3A TMEM94 FANCD2 COMT RBP4 MKKS SMC3 FOXC1 CACNA1C ALG8 ANKS6 PCNT BRIP1 EED FOXC2 MRPS16 SLC29A3 SAMD9 APC2 PSMD12 HPGD ARL6IP6 FOXE3 RIT1 KCNAB2 PRDM16 WDPCP CRELD1 TGFB3 IGF2 ERCC4 TFAP2B RERE STXBP1 PPP1CB NEDD4L ADAT3 NONO FANCF PEX19 SIK3 SLC25A24 PCGF2 RPL11 ERMARD KAT6A CDC42 SNRPB ARVCF ALG12 BRCA2 DACT1 GATA6 G6PC3 NOTCH3 FANCC TALDO1 TBX4 TCOF1 TRIP11 BAZ1B COQ4 KAT6B LOX GABRD FANCL STRA6 ADAMTS10 FGFR3 UBE2T RFWD3 FANCG NKX2-5 POLR1D WAC FANCA WDR35 MAD2L2 PORCN FKBP14 PTEN TSFM UMPS CSGALNACT1 TMCO1 DPM1 ECE1 HP_DILATED_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_CARDIOMYOPATHY ACTA1 PPCS MT-ND4 UBR1 DMD SURF1 PSEN2 NDUFB11 LMNA TMEM43 DSP PLN ALMS1 LDB3 ACTN2 MMACHC HAND2 TTN MT-ND1 MYH7 RAF1 TKFC MAP3K20 NUP107 ANKRD11 BAG3 FKTN ACADVL HAMP TNNI3 TNNC1 POMT2 SCN5A DOLK ACAD8 MT-CO1 SDHA VPS13A MGME1 LIMS2 CAP2 MT-TV MT-TS2 TWNK NEXN RBCK1 ADCY5 LAMA4 PRDM16 TXNRD2 BRCC3 MT-ND5 TCAP CSRP3 MYH6 HADHB ITGA7 ABCC9 EYA4 FHL1 DES GATAD1 SELENON MLYCD MT-TK MT-ND6 LAMP2 LAMC2 MYBPC3 SLC2A10 SKI MYPN POLG2 FHL2 ACAD9 BBS2 BOLA3 MT-TL1 MT-ATP6 ACTC1 SYNE2 PGM1 TOP3A TPM2 TNNI3K NDUFS2 MT-TH MEFV POLG JUP SGCB CRYAB DSG2 ANKRD1 VCL SGCD FKRP LAMB3 CHKB TPM1 DNAJC19 HADHA RRM2B HADH MT-TF TAF1A HBB NDUFAF3 KAT6B ATP5F1D MT-CO3 CPT2 TPM3 TMPO MT-ND2 MT-TQ HACD1 KCNAB2 RYR1 GATA5 TNNT2 PSEN1 TAZ DMPK MT-TW XK MYL2 NEBL COX7B XRCC4 COL7A1 DPM3 NDUFB8 HMGCL HJV ADA2 GLB1 GABRD MMP1 ERBB3 LAMA3 EPG5 RBM20 HCCS SPEG MT-ND3 TERT SYNE1 TSFM MT-CO2 RERE SCO2 SLC25A4 HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY FLNA CLIP2 MYH11 MLX PUF60 RPS6KA3 GJA5 RAC1 PACS1 MAT2A TBX1 FBN2 IFT122 TGFBR2 MYOCD ACSL4 BRAF PRKG1 GBA BRCA1 TTC37 FANCD2 COMT IFIH1 SKI SMAD6 SMC3 BCOR MMP2 UFD1 HNRNPK AMMECR1 HGD FOXF1 ACTA2 SLX4 MLXIPL KANSL1 FDFT1 BRIP1 TAF2 RPL26 RAI1 SMAD4 FANCB GJA8 TGFBR1 SEC24C TNXB ZNF462 B3GAT3 GTF2IRD1 GATA5 GLA GTF2I ZEB2 CREBBP SMAD3 FANCM MAP2K2 RREB1 FOXE3 RFC2 PALB2 KIF3B ELN CRELD1 IL12B NOTCH1 ZMPSTE24 TGFB3 HIRA SGO1 EP300 SEMA3E ERCC4 FBN1 MYLK SRY FANCF GNPTAB TBL2 MMP14 PPP2R5D NKX2-5 FANCI ARHGAP31 ROBO4 XRCC2 GP1BB CHD7 SLC25A24 ARVCF BRCA2 NXN CCNQ MAP3K7 KCNE5 NOTCH3 FANCC RAD51C ABCC9 SKIV2L ACTB MCTP2 MYH7 TAB2 BAZ1B LIMK1 HLA-B MFAP5 BBS2 B3GALT6 EDNRA LOX MMP21 GATA4 LMNA FANCL FANCE CHST3 MYH3 TGFB2 UBE2T NAA10 RFWD3 CBL FANCG SNIP1 NR2F2 WAC FANCA GATA6 MAD2L2 NADSYN1 TMEM70 JMJD1C RAD51 YY1AP1 CHRNG HP_COR_PULMONALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COR_PULMONALE TGFB1 BTK SREBF1 FCGR2A CFTR FLNA HP_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYCARDIA SCN1B TECRL RYR2 CPOX SDHB TMEM127 SCN5A NKX2-5 NDUFB11 KCND3 DSP CALM1 CASQ2 GPD1L CAVIN1 NAA10 SCN2B TBX20 DNMT3A BTNL2 TPM1 VHL SLC25A20 KYNU JUP ACTC1 HNF1A FLAD1 HFE SEMA3A TTN CTNNA3 ELP1 SLC19A2 VPS33A CALM2 MYH6 HNF4A RYR1 CITED2 SCN9A CACNB2 SFTPC DSG2 ACADVL KCNQ1 SCN10A ABCA3 ABCC8 AKAP9 CACNA1S PYGM TRDN MYL2 TMEM43 CDH2 GATA6 KCNE3 CNBP GDNF PPOX KCNJ8 TANGO2 CACNA1C MYOZ2 DST SRY KCNJ18 FBP1 DMPK HMBS ACTN2 CSF2RB UCP2 ABCC9 RET SCN3B SDHD PKP2 KCNJ11 TSHR GNAI2 SDHC KCNJ2 KIF1B BMP2 GYG1 CSF2RA HCN4 PGM1 HLA-DRB1 CSRP3 TNNI3K SLMAP SFTPB PRKAG2 KCNJ5 SCNN1A FMO3 JPH2 RANGRF MAX GATA4 TRPM4 MT-CYB KCNE5 LMNA CALM3 TLL1 SLC12A3 CACNA2D1 ECE1 HP_AORTIC_VALVE_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_VALVE_STENOSIS FBN1 AMER1 NKX2-5 VWF ADAMTS10 ARHGAP31 WASHC5 ROBO4 GLB1 SMAD4 BCOR CHST3 LTBP2 IFIH1 FLI1 SMAD6 CCDC22 LMNA SLC2A10 CREBBP ANKS6 FGFR1 DYRK1A HAAO EHMT1 KRAS ACTB ESCO2 TAB2 NOTCH2 NEK8 GJA1 ZEB2 NPHP3 NR2F2 B4GALT7 GATA4 IDUA GATA5 DDX58 EBP CBL SNIP1 SCN1B ADAMTSL2 GNPTG CYP24A1 WT1 GATA6 CRELD1 NOTCH1 ZMPSTE24 EP300 FOXF1 CLIC2 DPH1 HP_ABNORMAL_HEART_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY CLIP2 MYH11 SMPD1 PUF60 RPS6KA3 GJA5 KRAS NKX2-5 AEBP1 FBN2 TBX1 IFT122 TGFBR2 ARFGEF2 ZNF469 TPM3 ACSL4 PRKG1 RRAS2 GBA BRCA1 SH3PXD2B NRAS RASA2 BCOR TTC37 EXTL3 COL5A2 POLG SKI CCDC22 UFD1 PIGL FBN1 TCIRG1 AMMECR1 EOGT FOXF1 ACTC1 MAPK1 ELN ACTA2 SLX4 TPM2 FGFR1 MLXIPL ABCC6 COL1A2 SMAD4 FIBP FMR1 MYH6 KANSL1 NOTCH1 IDS AGGF1 RAI1 TNFSF11 B3GALT6 FANCB GJA8 SEC24C TNXB RBPJ ZNF462 ARF1 GTF2IRD1 PLD1 GATA5 GTF2I SMAD3 FANCM COL1A1 NSD2 VPS13B DSE TAB2 RREB1 PKD1 KCNJ8 RFC2 GATA6 PALB2 MYPN KIF3B TMTC3 EVC IL12B ANK1 MYCN HIRA SGO1 EP300 SEMA3E GLI1 SPEG XYLT2 MYLK IDUA SOS2 BRF1 TBL2 A2ML1 VWF FANCI SELENON WASHC5 ROBO4 XRCC2 SOS1 RAF1 GP1BB NXN CCNQ NELFA ARHGAP31 DAXX MAP3K7 KCNE5 TAF2 RAD51C CREBBP BICC1 SACS COL3A1 NF1 RPL5 MMP2 SKIV2L ACTB MCTP2 MYH7 HRAS RYR1 LIMK1 MFAP5 BBS2 POLA1 EDNRA GANAB MMP21 DNASE1L3 GATA4 HGD SALL1 CITED2 FANCE CHST3 GJA1 MYH3 ENPP1 NAA10 CBL ATRX SNIP1 NR2F2 DZIP1 TGFB2 LOX NADSYN1 COL5A1 TMEM70 MRAS ZIC3 CHST14 SNX10 PKD2 MAP1B JMJD1C FLNA RAD51 YY1 MED12 KIF7 YY1AP1 TLL1 MAP2K2 CHRNG TTN MLX DLL4 RAC1 PACS1 FMN2 MAT2A MYOCD MYRF ABCC9 BRAF PRDM5 LETM1 TBX20 FANCD2 COMT IFIH1 SMAD6 SMC3 LMNA HNRNPK FDFT1 BRIP1 RPL26 COL2A1 GALNS SLC29A3 TGFBR1 PTPN11 B3GAT3 GLA ZEB2 FOXE3 KCNAB2 PRDM16 MAP2K1 POLR3A HCN4 CRELD1 CBS DYNC2LI1 ZMPSTE24 TGFB3 B3GLCT ERCC4 MTX2 NEDD4L SRY NONO FANCF GNPTAB CLIC2 MMP14 CLCN7 PPP2R5D PCGF2 TMEM260 COX7B ERMARD XYLT1 CHD7 SLC25A24 ARVCF NDUFB11 BRCA2 DACT1 ROR2 DOCK6 NOTCH3 FANCC PRKAR1A FBLN5 GUSB DDX3X ATP6V1E1 FLT4 DYRK1A RRAS DCHS1 LTBP3 BAZ1B HLA-B GLB1 GABRD ALDH18A1 RIT1 FANCL UBE2T LZTR1 EVC2 RFWD3 FANCG WAC FANCA HCCS MAD2L2 ARSB PLOD1 RERE RNF135 BIN1 HP_PATENT_FORAMEN_OVALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_FORAMEN_OVALE STAT1 KDM1A HSPA9 LTBP4 DVL3 AMMECR1 PPP2R5D RAC1 PACS1 SNRPN MED13L TRIP4 IGF1R STAG2 RSPRY1 TKT ASCC1 COL11A1 NOTCH1 NONO NCAPG2 ALG12 GATA6 PIGN FANCI TMEM94 MAP3K7 CDK8 CACNA1C SETD1A VPS33A NF1 AFF4 TALDO1 RAI1 TGFB3 DDX6 TBX20 ACADVL RELN TASP1 PKDCC FLCN B3GAT3 CACNA1D PLD1 CHST3 CREBBP PHGDH UBE2A DSE NKX2-1 TRRAP WDR37 WDR35 GNB5 EP300 RERE STAMBP FBXW11 MTX2 YY1 TSFM PPP1CB CSGALNACT1 GNPTAB HP_MYOCARDIAL_INFARCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCARDIAL_INFARCTION LRP6 GLA CLIP2 TBL2 MLX ERAP1 TLR4 PCSK9 ABCG5 SH2B3 TET2 LMNA UBAC2 THOC2 ENPP1 CCR1 DYRK1B LDLRAP1 LDLR MPL SLC2A10 HLA-B STAT4 CALR CEP19 BAZ1B LIMK1 SCNN1A MEFV ELN CYP27A1 ABCG8 CTNNB1 SCNN1G TP53 KLRC4 IL23R PIGA HGD IL10 FAS GTF2IRD1 IL12A GTF2I CFTR BRAF VHL RAF1 RFC2 IL12A-AS1 ABCC6 SCNN1B IL12B CBS ZMPSTE24 MYH9 C4A ABCA1 LPL PTPN11 APOB JAK2 MEF2A IKZF1 BCHE WRN HP_AORTIC_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_REGURGITATION MAN2B1 BCR IDUA MYH11 PCGF2 NKX2-5 ERAP1 TLR4 BUB1B MAT2A ERMARD GNPTAB TGFBR2 ARFGEF2 PRKG1 TTC37 SH2B1 CHST3 FLNA ALDH18A1 SMAD6 SLC2A10 ELN UBAC2 ACTA2 FBN1 COL1A2 CCR1 ATP6V1E1 DYRK1A EHMT1 SKIV2L PDSS1 TAB2 SMAD4 BUB1 STAT4 TGFB3 MFAP5 MEFV TGFBR1 SMAD3 HLA-B LOX CRKL BUB3 KLRC4 PUF60 IL23R ARF1 IL10 FAS TRIP13 GATA5 IL12A YY1AP1 CCNQ FOXE3 GNPTG TGFB2 MAPK1 TMTC3 IL12A-AS1 HCN4 SLC35A1 ZMPSTE24 C12orf57 C4A MAP1B CEP57 D2HGDH NEDD4L MYLK NOTCH1 LMNA HP_TRUNCUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCUS_ARTERIOSUS GJA8 GATA6 BCR SEC24C CRKL PUF60 GJA5 TMEM260 DLL4 TBX1 STRA6 NKX2-5 GP1BB ARVCF RREB1 MAPK1 PSMD12 COMT NKX2-6 UFD1 HIRA JMJD1C NEK8 HP_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYCARDIA TRPM4 SLC25A20 TRDN SCN5A CALM3 TWNK TLL1 HTRA2 NOS1AP CACNA1C GFM2 LAMB3 CAV3 CASQ2 KCNQ1 CAVIN1 GLUL CALM2 LIPT1 SNTA1 CACNA1D GNB5 PPA2 DES LAMC2 PRKAG2 EFEMP2 SCN9A SFTPC KCNE1 COQ4 PAX8 ABCA3 KCNE2 NPPA UQCRFS1 TSPYL1 LAMA3 TNNI3K SCN4B KCNH2 COQ9 SFTPB USP18 BRAT1 BVES SCO1 ANK2 AKAP9 HCN4 KCNJ2 CACNA2D1 SGO1 TMEM43 CALM1 DST SCN10A MYL4 KCNJ5 HP_VENTRICULAR_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_FIBRILLATION SCN1B KCNQ1 DSP SCN5A NDUFB11 GABRA3 KCNE3 KCND3 ABCC9 SCN3B ALG10B GPD1L PKP2 KCNE2 CALM2 CALM1 CLCNKB SCN2B MYBPC3 SEMA3A DPP6 CACNB2 KCNE1 GYG1 TNNC1 ACADVL SLC12A3 HCN4 SNTA1 SCN10A AKAP9 KCNJ18 SLMAP MYL2 SCNN1A RANGRF KCNJ2 KCNJ8 CACNA2D1 TRPM4 CACNA1S MYL3 TANGO2 CACNA1C KCNE5 KCNH2 HP_TORSADE_DE_POINTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSADE_DE_POINTES KCNE1 KCNQ1 TRDN SCN5A CALM3 SNTA1 KCNE2 NOS1AP CACNA1C SCN4B KCNH2 ALG10B CAV3 NAA10 AKAP9 CALM2 CALM1 TANGO2 SCN10A KCNJ5 ANK2 HP_RIGHT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_HYPERTROPHY VPS33B DYSF VIPAS39 SGCG MYH7 LAMB2 GTPBP3 COLQ SELENON STAMBP BMPR2 NOTCH1 NPHP3 NONO SFTPB PIGN TTN HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES NME8 GATA6 SPAG1 RSPH1 GJA5 GAS2L2 RPGR TTC12 GAS8 CFAP300 NODAL GPC3 DNAH5 TTC25 GPC4 RSPH4A DNAAF5 NKX2-5 LMNA CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN MED13L PIGL TBX1 CCDC114 BMP2 DNAI2 GJA8 LRRC56 GDF1 GATA4 MMP21 ZNF462 MEGF8 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 PHGDH CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 RAB23 ZMPSTE24 WT1 CFAP298 LRRC6 NKX2-6 DRC1 ZIC3 FOXJ1 FKTN CFC1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 CFAP53 DNAAF4 FANCB DNAAF2 DNAAF3 HP_ASYMMETRIC_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY HGSNAT PRKAG2 MYH6 MYOZ2 MYL2 GNS CAV3 NAGLU MYH7 MYLK2 SGSH HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY KDM1A KDM6A CLIP2 CCDC174 NDUFA4 NFIX UBR1 PUF60 NDUFA13 EVC SF3B4 RMRP SHANK3 BRCA1 FGFR1 TTC37 MGP SPATA5 KCNA1 RPS17 CCDC22 NOTCH2 TBX1 RAD21 PEX6 ARCN1 KANSL1 PIGQ SIK1 MAGEL2 CITED2 B3GALT6 NPHP3 GDF1 PIK3R2 HDAC8 RPL15 SLC12A2 PLD1 NSD2 DHCR7 NSDHL ASXL1 FANCM ADA2 DSE HYMAI THOC6 RNU4ATAC WT1 ARX WDR37 NDUFA12 RPS26 FIBP EP300 GLI1 FOXF1 PDHA1 ROR2 PALB2 BRF1 TBL2 DGCR8 FBN1 SLC19A2 ALG9 GPC3 PEX5 COX7B PEX26 PIK3CA ROBO4 MEG3 PEX16 XRCC2 GP1BB NELFA TXNL4A NKX2-1 SALL4 ECHS1 CARS1 MASP1 GPC6 NF1 HAAO BRAF SKIV2L VAC14 LIMK1 TP63 RELN SCN1B GATA1 GJA1 UQCRFS1 FTO CKAP2L EXT2 SPECC1L LARS2 RPS15A NDUFA9 RAD51 YY1 DVL3 SMC3 KIF7 DPH1 CCND2 SYNE1 IGF1R MEOX1 NCAPG2 RBM8A SIX6 IFT172 PIGA TGDS FANCD2 COMT HRAS MKKS MYBPC3 FUT8 CDK8 RPL11 RPS19 MED25 MYPN NAA10 NKX2-5 CRKL BUB3 FLCN PIGL NDUFAF6 SOS1 PQBP1 RPL10 PEX10 RAB23 RIT1 RPS10 TACO1 MAP2K1 CRELD1 DYNC2LI1 TRAIP B3GLCT ERCC2 NONO SIK3 GTF2H5 NDUFV2 LTBP4 RBM10 AMMECR1 TCIRG1 AKT3 GATA6 SLC25A24 BMP2 NDUFB11 SLC19A3 CACNA1D NSD1 RPS28 TTC7A FANCC KMT2D ATP6V1E1 METTL5 DYNC2I1 KAT6B ELN GATA4 FLNA STRA6 HNRNPK RPL5 WAC HCCS WDR35 SLC29A3 MAD2L2 CWC27 GNB5 MEIS2 ASXL2 FBXW11 RERE NFE2L2 TMCO1 SEC31A VPS33B PEX11B TET3 TBX3 KRAS RNF113A HOXA13 DGCR6 MKS1 CD96 USP9X PIGN UFD1 XYLT1 MAPK1 SLX4 AMER1 KAT8 NUP107 RAI1 ANKRD11 PLAGL1 KDM3B TBC1D24 ADK NUP188 ZNF462 GTF2IRD1 RPL35A NEK9 ESS2 ESCO2 TRRAP RFC2 ANK1 ZIC3 SEMA3E XYLT2 EOGT TGFBR2 DYRK1A BCR PKD1L1 SOX4 MRAS LRP2 WASHC5 SON CEP290 LBR SOX2 PTPN11 INSR ABCD4 CDH2 MCTP2 BBS2 STRADA EXOC6B SHOC2 SETD2 CDK13 WDPCP FANCE CHST3 SMAD4 NEUROD2 NEK1 LIPT1 NKX2-6 CTU2 CFC1 JMJD1C MT-CYB STAG2 RPL27 PPP2CA DLL4 RSPRY1 MYOCD LZTR1 MMP2 COL11A2 TBX5 TRIM8 ARID2 MTFMT CDK10 NIPBL CANT1 CCBE1 PIEZO2 PRDM16 MYL2 RPS7 LONP1 GATA5 CEP57 KIF11 MTX2 TARS1 ADAT3 COX15 FANCF PEX19 SATB2 MMP14 PRKACB PPP2R5D PCGF2 MED13L GLI3 CHD7 ARVCF DACT1 FLI1 CASK AFF4 TALDO1 BAZ1B DNAJC19 ZMPSTE24 FANCL CRB2 SALL1 FGFR3 ERBB3 EVC2 HNRNPU ACTC1 NDUFS4 FKTN STAMBP PAH ABL1 STAT1 BUB1B NODAL TRIP4 MED12 CALM3 DSG1 FBN2 LMNA BCOR FANCI TSR2 IGBP1 CHST14 GDF6 MYH6 MLXIPL RSPO2 COL1A1 AGGF1 CPLX1 PEX2 SEC24C PET100 ATP6V1A GTF2I YY1AP1 TNFRSF11A EPHB4 MYH7 DLK1 SRCAP OTUD6B AUTS2 SNX14 WNT4 SLC25A22 PEX13 ALKBH8 SMC1A POR MAP3K7 GPX4 CREBBP UPF3B TRIO SETBP1 SHMT2 C2CD3 CNTNAP2 MPLKIP NR2F2 HSPG2 DTNA UBE2A INTU COL1A2 ATIC EFTUD2 PEX3 CDKL5 NDUFV1 PEX14 GLA LARP7 RTL1 SURF1 TKT NOTCH1 LETM1 DNMT3A TMEM94 VIPAS39 FOXRED1 ACVR2B ALG8 CDC45 SMG9 EHMT1 GPC4 FOXC2 TGFBR1 PKDCC B3GAT3 ZEB2 PIEZO1 DDX11 SCN2A CTCF PSMD12 KCNAB2 DMXL2 ERCC4 TFAP2B DGCR2 MYCN GNPTAB GNAO1 TMEM260 NDUFS7 KAT6A ARHGAP31 POLR1A RPS24 ALG12 TCTN3 WDR26 SMARCE1 NDUFS2 SDHA RPL18 ZDHHC9 TGFB3 TBX20 NDUFAF2 GABRD NDUFAF5 TRIP13 STXBP1 UBE2T CCNQ RAF1 PTEN TSFM CSGALNACT1 PACS1 NDUFA2 FANCB HSPA9 STK4 UMPS MGAT2 TLL1 KIAA0586 ATP6V0A2 SH2B1 MYMK COG6 ARID1B KIF15 BSCL2 VPS33A NDUFA10 BUB1 ACADVL GTF2E2 NOTCH3 MEGF8 HYLS1 BMPR1A VPS13B RREB1 RPL35 TBCK SETD5 RPL31 HIRA RRAS2 FLNB PEX1 PNKP NKAP SNRPB KDM5B SNRPN NRXN1 ADAMTS10 ATN1 ASCC1 COL11A1 PRKACA PACS2 LTBP2 RPL26 COG1 RAD51C SKI POLA1 GYG1 MMP21 ATRX IFT81 PHGDH TBX2 NDUFS8 NDUFS1 IRX5 TBX22 CHD4 MAP2K2 CHRM3 TAPT1 RAC1 ERCC3 PEX12 MIR17HG MYRF PIGT GDF3 NXN FOXC1 PIGP CACNA1C PCNT VPS35L BRIP1 RECQL4 FADD JAG1 DDX6 NDUFS3 PIGO FIG4 SOS2 APC2 PAX3 SVBP FGFR2 KMT2A PPP1CB SMN1 CDC42 CTBP1 BRCA2 HOXD13 FGFRL1 G6PC3 LRP5 SETD1A RPS29 MPL TAB2 TBX4 RARB TASP1 DPF2 PTF1A SYT1 RFWD3 FANCG FANCA PORCN RPS27 UBE3B ECE1 HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT GATA6 GDF1 NKX2-6 PUF60 TBX1 HYLS1 WDPCP GATA1 CDC45 NKX2-5 INTU PRKACA TRIO HP_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ATHEROSCLEROSIS MYH11 SMPD1 CYP7A1 BRCC3 MAT2A PCSK9 ERCC6 LMNA XYLT1 APOB TGFBR2 ERCC8 PRKG1 ABCG5 PPARG APOA2 LIPC ACTA2 LDLRAP1 LDLR EPHX2 XYLT2 ABCG8 SMAD4 PPP1R17 CEP19 MFAP5 TGFBR1 LOX APOE ZNF687 SMAD3 GHR ABCC6 FOXE3 TGFB2 KCNJ5 SERPIND1 ELN TGFB3 ABCA1 FBN1 MYLK ESR1 HP_ABNORMAL_AORTIC_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_MORPHOLOGY ABL1 NOD2 RNASEH2B KDM6A CLIP2 CYP7A1 PUF60 GJA5 BUB1B PCSK9 DLL1 FBN2 TBX1 ARFGEF2 KCNH1 PRKG1 BRCA1 ABCG5 BCOR TSR2 SAMHD1 MEIS2 ELN FGFR1 KANSL1 CYP11B1 NODAL TGFBR1 B3GALT6 GJA8 FBXW11 GDF1 SEC24C PTPN22 COX7B FMR1 GBA GATA5 RPS19 GTF2I DHCR7 PTEN NDUFB11 SMAD3 FANCM ADA2 ACTL6A RNU4ATAC WT1 IL12B MYLK EP300 SEMA3E FBN1 BRF1 SRCAP TBL2 DGCR8 NKX2-5 DOCK3 ROBO4 XRCC2 GP1BB MYH11 COL3A1 CREBBP BICC1 CARS1 DYNC2LI1 BRAF C12orf57 LIMK1 TRAF7 MFAP5 NR2F2 GATA4 NTNG1 TCF20 GJA1 COL1A2 TGFB2 LOX SPECC1L RNASEH2C COL5A1 PKD2 RPS15A RAD51 IFIH1 CHRNG NOTCH1 MLX HCCS MAT2A MAP2K1 TBX5 CRELD1 TGDS KMT2E DNMT3A FANCD2 COMT TSC2 CDK8 ACVR2B RPL11 SMG9 EHMT1 CRKL DIS3L2 ABCG8 BUB3 ENPP1 B3GAT3 LEMD3 ZEB2 PIK3R2 CTCF RPS10 MAPK1 KCNAB2 ANGPTL6 MED12 ACTA2 ERCC4 GAS1 DGCR2 MYCN SRY PKD1 AMER1 TMEM260 DNAH1 AEBP1 ERCC8 ABCC6 SLC25A24 RPS24 FLNA NSD1 RPS28 FANCC FBLN5 WDR26 KMT2D PSMD12 LDLR THSD1 RPL18 PPP2R1A TGFB3 CDON TBX20 GABRD ALDH18A1 TRIP13 APOE STRA6 HNRNPK UBE2T GATA6 RPL5 WAC MAD2L2 ZIC2 SHH WDFY3 RERE GLI3 ERCC6 TGFBR2 DGCR6 TALDO1 MKS1 TPM3 COL5A2 MYT1L PIGN PTCH1 UFD1 FOXF1 SLX4 TPM2 SMAD4 TRMT1 DISP1 ACTL6B RAI1 BUB1 FANCB PGM3 ADK ARF1 MED13 GTF2IRD1 NEK9 COL1A1 ESS2 RREB1 ZMPSTE24 TANC2 TRRAP RPL35 RPL15 RFC2 PALB2 MYPN TMTC3 SIX3 RPL31 HIRA ZNF148 FLNB TGFBR3 HRAS NKAP BCR ADAR FGF8 DDX6 FANCI FOXH1 FOXE3 GATA1 RPL26 PTPN11 RAD51C ABCD4 CDH2 KRAS SLC2A10 SKI MCTP2 MYH7 GANAB MMP21 SETD2 PTH1R WDPCP FANCE CHST3 MYH3 RIN2 NKX2-6 MAP1B JMJD1C STAG2 ZMIZ1 DLK1 CHD4 RPL27 LZTR1 NRAS CYP17A1 NXN SMAD6 MMP2 LMNA RPS17 HGD IDS NF1 LDLRAP1 BRIP1 EFEMP2 JAG1 SVBP BGN TGIF1 SOS2 APC2 TREX1 RPL35A MEG3 POR PRDM16 RPS7 RTL1 TDGF1 CEP57 GLI2 PPP1CB NEDD4L APOB FANCF FGFR2 MMP14 ERMARD RLIM RNASEH2A BPTF CHD7 ARVCF BRCA2 ROR2 FLI1 RPS26 ENG NSMCE2 TSC1 HDAC4 FLT4 AFF4 RPS29 TAB2 BCORL1 BAZ1B HLA-B FANCL RFWD3 FANCG FANCA RPS27 FKBP14 PAH TRAPPC4 PLOD1 RBM8A UBE3B HP_COARCTATION_OF_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARCTATION_OF_AORTA ABL1 KDM6A PUF60 GJA5 GLI3 BUB1B DLL1 MAP2K1 TALDO1 MKS1 LZTR1 NRAS TSR2 TGDS MEIS2 SMAD6 PTCH1 MMP2 CDK8 TBX1 RPS17 FGFR1 RPL11 NF1 RPS19 DISP1 EHMT1 NODAL BUB1 JAG1 GJA1 GJA8 ADK BUB3 TGIF1 KRAS SOS2 GATA5 ZEB2 CREBBP DHCR7 ADA2 CTCF RPL35A RNU4ATAC RPS10 WT1 TRRAP RPL35 RPL15 GDF1 RPS7 SIX3 CRELD1 RPL31 TDGF1 EP300 CEP57 ZNF148 GAS1 GLI2 PPP1CB HRAS SRY GATA6 SRCAP MMP14 AMER1 NKX2-5 FGF8 FOXH1 SMAD4 RPS24 GATA1 RPL26 FLI1 RPS26 RPS28 PTPN11 KMT2D ABCD4 CDH2 DYNC2LI1 BRAF RPS29 MCTP2 RPL18 MYH7 TRAF7 CDON TBX20 NR2F2 PTH1R GATA4 WDPCP TRIP13 STRA6 RPL5 WAC NKX2-6 SPECC1L ZIC2 RPS27 RPS15A SHH STAG2 PAH MED12 CHD4 RBM8A NOTCH1 RPL27 UBE3B HP_ANGINA_PECTORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGINA_PECTORIS GLA CYP27A1 ABCG8 MPL JAK2 TET2 PCSK9 GATA4 PIGA APOE XYLT1 PTEN ENPP1 HLA-DPB1 PTPN22 PMM2 NR2F2 ABCG5 ABCC6 HLA-DPA1 PRTN3 LCAT LMNA GATA6 CRELD1 LIPC ZMPSTE24 LDLRAP1 LDLR XYLT2 APOB CTLA4 IDUA HP_SUBVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBVALVULAR_AORTIC_STENOSIS MYH6 HDAC4 IFIH1 BUB3 WDPCP BUB1B MYLK2 TRIP13 CEP57 NKX2-5 PTPN11 CAV3 TAB2 MYH7 BUB1 FGFR1 HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT NKX2-5 TBX5 METTL5 GDF1 NF1 GATA6 NR2F2 RPL11 TRIP4 MYH6 PTF1A SHMT2 HP_MYOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCARDIAL_FIBROSIS SERPINE1 MYPN JPH2 TNNT2 PPA2 TRIM37 LAMP2 FKTN KIF20A FLNC TNNI3 ALMS1 HP_LOSS_OF_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_VOICE SDHC FTL SDHD SDHAF2 ASAH1 HP_SINUS_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_BRADYCARDIA KCNE1 TRDN SCN5A CALM3 KCNE2 NOS1AP CACNA1C TNNI3K CAV3 SCN4B KCNH2 KCNQ1 SNTA1 BVES ANK2 AKAP9 HCN4 CALM2 PRKAG2 CALM1 SCN10A KCNJ5 HP_ATRIAL_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_ARRHYTHMIA POLG DMPK RYR2 ACTN2 XK TNNT2 SCN5A KCNA5 NKX2-5 TLL1 FLNC TNNI3 TBX20 LMNA TBX5 CAVIN1 SCN4B MYPN CLIC2 TRDN NEXN RRM2B ACTC1 GATAD1 TTN CACNB2 MYH6 PLN CITED2 TAB2 POLG2 APRT TWNK SMAD3 TNNC1 KCNQ1 GATA4 MYH7 KIF20A NUP155 DTNA CASQ2 NPPA CSRP3 GJA5 TNNI3K KCNE2 MFAP5 SCN1B NR2F2 CACNA1C EMD PRKAG2 KCNJ5 ANK2 GATA6 HCN4 CRELD1 SCN3B KCNJ2 CACNA2D1 SGO1 GATA5 ABCC9 SCN2B MT-CYB TMEM43 KCNH2 MYOZ2 MYL4 SLC25A4 HP_CARDIAC_SHUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_SHUNT TLL1 TBX20 GATA6 ACVRL1 ENG GATA4 FOXF1 ACTC1 NKX2-5 CITED2 MYH6 THOC6 HP_CARDIAC_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_ARREST LRP6 CLIP2 SCN1B TECRL KCNQ1 TRDN PCSK9 SCN5A NDUFB11 TMEM43 CACNA1C KCND3 CALM1 PKP2 ABCA12 CAV3 GPD1L KCNE2 WIPF1 ABCG5 SNTA1 SCN2B WAS CPT1A DNAJC19 MYBPC3 RYR2 SEMA3A TNNI3 SLC19A2 CALM2 LDLRAP1 TGFBR1 CACNB2 SFTPC KCNE1 DSG2 ABCG8 PTPN22 SCN10A ABCA3 GTF2IRD1 AKAP9 GTF2I SCN4B TGFBR2 PTEN EMD ABCC6 SRSF2 MYL2 RFC2 ANK2 KCNE3 DES TET2 FHL1 HCN4 KCNJ8 TGFB3 TANGO2 APOB AKT1 KCNH2 LMNA CASQ2 TBL2 DSP ACTN2 ASXL1 TSPYL1 NOS1AP ABCC9 SCN3B CLCF1 ALG10B EYA4 HMGCL GNAI2 TOR1A JUP LDLR DPP6 SLC2A10 RUNX1 HLA-B ACAD9 BAZ1B LIMK1 ELN CALM3 MYH7 SYNE2 DTNA GBA MRPL12 CSRP3 ENPP1 TNNI3K LDB3 SLMAP RBM20 SFTPB PRKAG2 KCNJ5 SCNN1A RANGRF DSC2 ACADVL KCNJ2 CACNA2D1 CBL TRPM4 MYL3 SYNE1 KCNE5 CRLF1 IKZF1 HP_ABNORMAL_PERICARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY NOD2 PMM2 IL6 LYST ERAP1 ALG9 TLR4 ADAMTS3 TRIM37 FCGR2A MAF SPP1 HBA1 GBA AEBP1 LMNA KIAA1109 TREX1 ABCC6 SMAD4 MEFV HLA-DRB1 MIF GATA6 HLA-DPA1 FAT4 CLCNKB PTPN22 CTLA4 MYBPC3 UBAC2 TNFRSF1A CCR1 CALCRL ABCC9 HBA2 EXT1 STAT4 LACC1 HLA-B ACADVL CCBE1 ENPP1 CDH23 KLRC4 SLC12A3 IL23R DNASE1L3 IL10 FAS IL12A UQCRFS1 TSC1 TSC2 EPHB4 HLA-DPB1 FCGR2B SCARB2 PRTN3 PLVAP IL12A-AS1 PRG4 IRAK1 C4A DNASE1 EXT2 PTPN14 ITK HP_PERICARDIAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERICARDIAL_EFFUSION PMM2 LYST ACADVL CCBE1 ENPP1 ALG9 CDH23 SLC12A3 ADAMTS3 DNASE1L3 SPP1 UQCRFS1 GBA TSC1 TSC2 AEBP1 LMNA KIAA1109 EPHB4 ABCC6 SMAD4 HLA-DRB1 SCARB2 STAT4 MAF CLCNKB FAT4 PLVAP IRAK1 MYBPC3 CALCRL ABCC9 PTPN14 ITK HP_SUDDEN_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_DEATH LRP6 CLIP2 TECRL KCNQ1 RYR2 TRDN PCSK9 SCN5A TMEM43 CACNA1C CALM1 PKP2 ABCA12 SOST CASQ2 KCNE2 WIPF1 ABCG5 SNTA1 WAS CPT1A DNAJC19 TNNI3 MLXIPL CALM2 LDLRAP1 CAV3 KCNE1 DSG2 ABCG8 PTPN22 GTF2IRD1 GTF2I SCN4B TAB2 MYH7 PTEN EMD ABCC6 MYL2 RFC2 ANK2 DES FHL1 TGFB3 TNNT2 APOB AKT1 KCNH2 AKAP10 LMNA MYH6 TBL2 DSP NOS1AP TTN CLCF1 ALG10B EYA4 GNAI2 ELN JUP LDLR DPP6 HLA-B HRAS ACAD9 BAZ1B LIMK1 SMAD3 GPD1L CALM3 HADHA SYNE2 DTNA CSRP3 ENPP1 LDB3 RBM20 PRKAG2 AKAP9 DSC2 MYLK2 ACADVL KCNJ2 CACNA2D1 MYL3 SYNE1 CRLF1 SCN10A KCNJ5 IKZF1 HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY FLNA SEC24C PCGF2 RPS6KA3 TMEM260 MMP21 TBX1 COX7B GATA4 MYH7 PLD1 WASHC5 MYRF COL1A1 GP1BB GATA6 ARVCF NDUFB11 RREB1 NR2F2 ROR2 COL5A2 NXN HCCS COMT COL5A1 CRELD1 CCDC22 UFD1 MYCN HIRA JMJD1C FBN1 IDS FGFR1 YY1 KRAS AGGF1 NONO HP_TRICUSPID_VALVE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_VALVE_PROLAPSE COL5A2 FLNA HCCS PCGF2 COL5A1 COX7B PLD1 FBN1 FGFR1 KRAS COL1A1 NDUFB11 HP_ENDOCARDIAL_FIBROELASTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROELASTOSIS SLC22A5 IDUA TAZ GJA5 ACTN2 CSRP3 HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY VPS33B TLL1 SGCG MMP21 MYH7 NKX2-5 CITED2 SELENON TBX20 NOTCH1 NONO FCGR2A CFTR GATA6 PIGN TGFB1 BTK DYSF SREBF1 CDH2 VIPAS39 TRAPPC11 LAMB2 GATA4 FIBP GTPBP3 ACTC1 COLQ STAMBP MYH6 BMPR2 NPHP3 SFTPB FLNA TTN HP_RIGHT_VENTRICULAR_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_FAILURE SDHD TBX20 DAXX GATA6 MYH7 GATA4 ACTC1 NKX2-5 CITED2 SELENON MYH6 BMPR2 ATRX TLL1 TTN HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK DES MT-ATP8 MT-TL1 PTPN11 RRM2B SCN5A HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY GLA POMT2 ATP6AP2 BUB1B MT-TS2 MT-CYB EGFR MT-CO3 SDHD TTN FGFR1 AIP HSD11B2 HDAC4 IFIH1 SMAD6 RRM2B TNNI3 BBS1 C1QBP PLN CAV3 BUB1 TWNK MT-TQ MYPN MT-TF BUB3 ZNF462 B3GAT3 CACNA1D GATA5 ZNF687 CCDC28B MT-TW MT-ND1 FKRP MYH7 RIT1 SCN5A MYL2 WDPCP HCN4 SMAD3 TRMT10C CEP57 TNNT2 SPEG MYOZ2 MT-ND6 MTX2 MT-TK NONO GNPTAB ABCA1 PRDM16 POLG MYH6 NKX2-5 ACTN2 TCAP MT-TC MT-TL1 SLC25A24 TPK1 GATA6 KCNJ5 SDHAF1 HADHB NEXN ADAM17 GTPBP3 SDHA GAA ABCC9 MT-TV TAB2 POLG2 RYR1 TLL1 GLRX5 ACTC1 TRIP13 POMT1 DTNA CHST3 GYS1 MT-CO2 MEN1 PTPN11 EPG5 LDB3 ESPN COL1A2 COQ9 ARL6 SCO1 HADHA MT-ND5 WDR35 SDHB JPH2 MYLK2 MT-CO1 COQ7 MYL3 BIN1 SLC25A4 NOTCH1 SVIL HP_LEFT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_HYPERTROPHY GLA POLG POMT2 ATP6AP2 ACTN2 TCAP MT-TC MT-TS2 MT-CYB MT-TL1 EGFR SLC25A24 MT-CO3 TPK1 SDHD TTN AIP HSD11B2 KCNJ5 SDHAF1 HADHB NEXN ADAM17 RRM2B GTPBP3 TNNI3 NKX2-5 SDHA GAA ABCC9 BBS1 C1QBP PLN MT-TV POLG2 TWNK MT-TQ RYR1 MYPN TLL1 MT-TF SMAD3 GLRX5 ZNF462 ACTC1 B3GAT3 CACNA1D POMT1 DTNA CHST3 ZNF687 GYS1 CCDC28B MT-CO2 MEN1 EPG5 MT-TW MT-ND1 LDB3 ESPN FKRP COL1A2 COQ9 RIT1 SCN5A ABCA1 ARL6 SCO1 MYL2 HADHA MT-ND5 WDR35 SDHB JPH2 HCN4 MT-CO1 TRMT10C COQ7 MYL3 TNNT2 SPEG MYOZ2 MT-ND6 MTX2 MT-TK NONO GNPTAB BIN1 SLC25A4 SVIL HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY ABL1 MEOX1 KDM6A CLIP2 CCDC174 NDUFA4 NFIX UBR1 PUF60 NDUFA13 BUB1B NODAL PCSK9 STAG2 CALM3 MT-TS2 DSG1 FBN2 TBX1 SF3B4 PKP2 LONP1 MT-CO3 SHANK3 FGFR1 PMS2 ABCG5 AIP HSD11B2 BCOR TTC37 FANCI KRAS TSR2 IGBP1 MGP MEIS2 KCNA1 GDF6 CCDC22 ACTC1 TNNI3 SLC19A2 MLXIPL RSPO2 RAD21 PEX6 ARCN1 KANSL1 PLN CAV3 PIGQ SIK1 CITED2 CPLX1 PEX2 GDF1 MT-TF PIK3R2 HDAC8 SEC24C NSD1 RPL15 COX7B SLC12A2 CACNA1D PET100 GATA5 RPS19 GTF2I YY1AP1 NSD2 DHCR7 NSDHL ASXL1 NDUFB11 TNFRSF11A NDE1 ADA2 HYMAI FBLN5 FKRP THOC6 WT1 ARX WDR37 MSH6 NDUFA12 EVC RPS26 DLK1 FIBP EP300 GLI1 SPEG FOXF1 NPHP3 PDHA1 EPCAM MLH3 ROR2 B3GLCT PALB2 BRF1 TBL2 OTUD6B DGCR8 FBN1 NKX2-5 TCAP GPC3 PEX5 PEX26 MT-TC PIK3CA WNT4 MEG3 PEX16 GP1BB SPECC1L SLC25A22 TPK1 PEX13 ALKBH8 SMC1A TGFB1 TXNL4A CPT2 KCNJ5 NKX2-1 SDHAF1 HADHB ADAM17 SALL4 CREBBP ECHS1 SDHA MASP1 GPC6 NF1 GAA BRAF PRKAG2 SKIV2L POLG2 HRAS RYR2 VAC14 C2CD3 LIMK1 WASHC5 TP63 CNTNAP2 MPLKIP NR2F2 SCN1B DTNA UQCRFS1 PTPN11 UBE2A LDB3 FTO CKAP2L ESPN COL1A2 ARL6 SCO1 LARS2 PEX3 MT-CO1 GPR101 RPS15A NDUFA9 COQ7 CDKL5 NDUFV1 DVL3 SMC3 EFEMP2 MTFMT PEX14 NOTCH1 CCND2 TTN GLA RTL1 POMT2 SYNE1 SURF1 HCCS IGF1R TKT MT-CYB MAP2K1 TBX5 SIX6 IFT172 TGDS TBX20 TMEM94 COMT IFIH1 VIPAS39 LETM1 FOXRED1 MKKS MYBPC3 CDK8 ACVR2B RPL11 CDC45 SMG9 C1QBP GPC4 MED25 FOXC2 TWNK MT-TQ FLNA MYPN NAA10 CRKL ABCG8 BUB3 ENPP1 MYH7 B3GAT3 PIGL NDUFAF6 ZEB2 SOS1 MT-TW PQBP1 DDX11 SCN2A RPL10 PEX10 RAB23 RIT1 RPS10 TACO1 MAPK1 PSMD12 TRAPPC11 DYNC2LI1 DMXL2 MED12 TRAIP ERCC2 TNNT2 TFAP2B MT-ND6 DGCR2 MYCN SFTPB NONO GNPTAB ABCA1 GNAO1 GTF2H5 NDUFV2 SLC25A20 TMEM260 SGCG NDUFS7 KAT6A TCIRG1 AKT3 ARHGAP31 ABCC6 SLC25A24 RPS24 SLC19A3 KAT6B FHL1 RPS28 LAMB2 NEXN GJA1 TTC7A TCTN3 WDR26 ATP6V1E1 LDLR NDUFS2 RPL18 NOTCH2 DYNC2I1 TGFB3 NOD2 TLL1 SOX2 ELN B3GALT6 GLRX5 NDUFAF2 TNNC1 NDUFAF5 TRIP13 POMT1 STRA6 SGCD STXBP1 MEN1 HNRNPK EPG5 GATA6 RPL5 COQ9 WAC WDR35 SDHB SLC29A3 CWC27 JPH2 BMPR1A CSGALNACT1 PACS1 NDUFA2 LMNA SEC31A VPS33B PEX11B TET3 ATP6AP2 TBX3 GLI3 UMPS MGAT2 RNF113A HOXA13 DGCR6 TALDO1 FCGR2A CD96 COG6 UFD1 ARID1B XYLT1 BSCL2 AMER1 MYH6 NDUFA10 KAT8 NUP107 RAI1 BUB1 ANKRD11 PLAGL1 KDM3B TBC1D24 ACADVL FAN1 NUP188 GTF2E2 ZNF462 NOTCH3 HYLS1 GTF2IRD1 RPL35A NEK9 ESS2 VPS13B RREB1 SCN5A ESCO2 RPL35 RFC2 TBCK SETD5 SMAD3 RPL31 HIRA GATA4 TRMT10C RRAS2 GMPPB FLNB MYOZ2 SEMA3E PEX1 EOGT PNKP NKAP DYRK1A PRDM16 BCR PKD1L1 SOX4 SNRPB DPH1 NRXN1 ADAMTS10 SELENON MT-TL1 LRP2 SMAD4 CFTR GATA1 PIGN LTBP2 RPL26 BTK CHD7 CEP290 EXT2 LBR KMT2D INSR GTPBP3 BMPR2 RNU4ATAC MT-TV BMP2 RYR1 POLA1 GYG1 SHOC2 MMP21 SETD2 CDK13 ATRX IFT81 WDPCP CHST3 GYS1 MT-CO2 NEUROD2 PHGDH NDUFS8 NDUFS1 HADHA LIPT1 CTU2 AGL ZIC3 RERE JMJD1C MSH2 CHD4 RPL27 CHRM3 COX6B1 TAPT1 RAC1 DLL4 NIPBL ERCC3 PEX12 MIR17HG EGFR MYOCD MYRF XYLT2 GDF3 SDHD TGFBR2 HDAC4 NXN SMAD6 MMP2 COL11A2 PIGP PEX19 SLC2A10 RPS17 CACNA1C RRM2B LDLRAP1 BBS1 TRIM8 FADD JAG1 NDUFS3 EFTUD2 FIG4 APC2 NPPA ZNF687 CCDC28B MAP2K2 SVBP MT-ND1 CANT1 CCBE1 PIEZO2 MYL2 CDH2 RPS7 KMT2A HCN4 ZMPSTE24 CEP57 COLQ MLH1 MTX2 MT-TK PPP1CB TARS1 APOB COX15 SMN1 FGFR2 POLG SATB2 MMP14 PPP2R5D ACTN2 MED13L NEK1 CTBP1 ARVCF PMS1 FGFRL1 SREBF1 FLI1 LRP5 NSMCE2 CASK AFF4 ABCC9 RPS29 TAB2 BAZ1B RARB DNAJC19 TASP1 RPS20 CRB2 SIX3 SALL1 ERBB3 EVC2 DYSF MT-ND5 PORCN NDUFS4 MYLK2 RPS27 SEMA4A MYL3 STAMBP PAH RBM8A BIN1 SLC25A4 SVIL UBE3B ECE1 HP_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_HYPERTROPHY VPS33B GLA POMT2 COX6B1 ATP6AP2 MT-TS2 MT-CYB EGFR NOTCH1 TALDO1 MT-CO3 SDHD TTN AIP HSD11B2 CHST3 VIPAS39 MYBPC3 LMNA SLC2A10 RRM2B TNNI3 BBS1 C1QBP PLN TWNK MT-TQ MYPN MT-TF ENPP1 MYH7 ZNF462 B3GAT3 CACNA1D ZNF687 CCDC28B MT-TW MT-ND1 FKRP SGCG RIT1 SCN5A MYL2 HCN4 SMAD3 ZMPSTE24 TRMT10C COLQ TNNT2 SPEG MYOZ2 MT-ND6 MTX2 MT-TK NPHP3 SFTPB NONO GNPTAB ABCA1 POLG SLC25A20 ACTN2 TCAP COX7B MT-TC SELENON MT-TL1 ABCC6 SLC25A24 TPK1 PIGN CPT2 FHL1 KCNJ5 LAMB2 SDHAF1 HADHB NSMCE2 NEXN ADAM17 GTPBP3 NKX2-5 SDHA ATP6V1E1 BMPR2 RPL5 GAA ABCC9 PRKAG2 MT-TV POLG2 RYR1 NOD2 TLL1 GLRX5 GYG1 TNNC1 ACTC1 POMT1 DTNA SGCD GYS1 MT-CO2 MEN1 EPG5 LDB3 ESPN COL1A2 COQ9 WAC DYSF ARL6 SCO1 HADHA MT-ND5 WDR35 SDHB JPH2 AGL MT-CO1 GPR101 COQ7 MYL3 STAMBP BIN1 SLC25A4 SVIL HP_MITRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_STENOSIS LZTR1 FBN1 NOTCH1 ZMPSTE24 PLD1 GJA1 ZNF148 XYLT1 XYLT2 HAAO MCTP2 UBE2A GBA NOTCH2 NKX2-5 ABCC6 ADAMTSL2 LMNA CHST3 HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE RYR1 HBB CACNA1S RASA1 ENG HP_RESTRICTIVE_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_CARDIOMYOPATHY SLC4A1 SPTA1 EPB42 ABCC6 ANK1 PIGT ACTC1 DES TNNI3 MYL3 XYLT1 PDGFRA XYLT2 SPTB ENPP1 HP_PROGRESSIVE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_HEARING_IMPAIRMENT MYH14 POU3F4 TBC1D24 MT-TC MT-TS2 TWNK MT-CYB LARS2 MT-TL1 NLRP3 MT-CO3 MPZL2 ALMS1 SERPINB6 IARS2 ATP1A3 SYNE4 GSDME DMXL2 DIAPH1 MCM2 MT-TV SCD5 FGF3 ARSG MT-TQ MT-TF PEX11B TPRN ACTG1 GFER MT-CO2 GJB6 MT-TW MT-ND1 GRXCR1 MPZ BDP1 MT-ND5 MYO3A P2RX2 MIR96 MYO6 GJB2 OPA1 MT-CO1 SP7 WFS1 MT-ND6 MT-TK TIMM8A GATA3 HP_ABNORMALITY_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PANCREAS CLCA4 RAD51D SLC37A4 STK11 UBR1 SBDS PUF60 APC KRAS CDKN1A PALB2 PRKAR1A CDKN2A HNF1B DCTN4 RAD51 RMRP NR1H4 FCGR2A ALMS1 PMS2 CFTR STAT3 CDKN1B NPHP3 RPGRIP1 RTEL1 BAP1 FOXF1 HNF1A ASXL1 BSCL2 MT-ND1 ABCC8 HNF4A CTNS TKFC PRSS2 CDKN2B ACTG2 CEP55 STAT4 DIS3L2 TERT GNAS PDX1 FAN1 IL23R HAMP CTRC PTEN IL10 FAS PRSS1 DNAJC21 SETBP1 PKHD1 COX4I2 SLC25A13 ARX MT-CO1 MSH6 WDR19 TP53 PALLD NBN MEN1 MAFA MT-TS2 CDC73 EPCAM GPC3 B9D1 ABCB4 MLH3 SLC7A7 TMEM107 TELO2 MT-ND5 NTHL1 G6PC GPC4 LHX1 MITF RAD51C FLI1 TGFB1 CLCNKB CASR KCNJ11 CNOT1 MT-ND6 UBAC2 BICC1 MKS1 PTRH2 SKI NUTM1 SRP54 INSR APPL1 FAH GANAB POT1 EFL1 GCK VHL PTF1A FLNB MT-TL1 IL12A CYBC1 MT-TH NEUROD1 RARB MGMT CDKN1C CTC1 BARD1 LBR WRAP53 IL12A-AS1 LMNA EWSR1 PCCA CEP290 BRCA2 MDM2 NHP2 PKD2 C4A MSH2 APOC2 DKC1 IFT172 IKZF1 RAD50 SPINK1 MST1 MMUT TMEM216 BRIP1 TERC TGFBR2 GCGR RFX6 SLC16A1 TTC37 FGFR2 EIF2AK3 TMEM231 CEL CDKN2C GNA11 INS KLF11 STX1A CPA1 PAX4 MADD CCR1 COL14A1 DZIP1L MT-TF OFD1 STUB1 NADK2 JAG1 USB1 SLC29A3 CC2D2A GLIS3 ENPP1 TCTN2 IGF2 MYC MT-CO3 CIDEC ACD MT-TQ ABCB11 BCKDHA B9D2 PRTN3 KCNAB2 PRDM16 PARN ATP8B1 CBS RERE MLH1 NOTCH3 PRKCSH GPR35 RABL3 RECQL4 SIK3 CCND1 TINF2 PKD1 NPM1 PIK3CA CDK4 ERAP1 TLR4 BRCA1 NDUFS3 RNF43 UCP2 NEK1 ABCC6 CHEK2 PMS1 BCKDHB HOXD13 GATA6 HLA-DPA1 PPARG WDPCP XPNPEP3 TMEM67 NSMCE2 HMGCL CAV1 RPGRIP1L CSPP1 AGPAT2 CTLA4 HLA-B SMAD4 DYNC2I1 SEC63 MEFV TF GABRD KLRC4 SLC12A3 MT-TW BRD4 FANCD2 RPS20 DBT APOE NOP10 KCNQ1 KCNQ1OT1 PDGFRB MC1R MYCN STRA6 HLA-DPB1 PTPN22 TERF2IP MT-ND4 AAGAB LRP5 LPL PNPLA2 HJV SEMA4A KLHL7 BMPR1A AP2S1 PCCB MRE11 WT1 TCF4 BLK MT-CO2 CP RBM8A HP_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATITIS SLC7A7 SPINK1 MST1 SLC37A4 MMUT ALMS1 CFTR CDC73 GNA11 CPA1 BSCL2 MT-ND1 CCR1 TKFC PRSS2 MT-TF ACTG2 STUB1 NADK2 STAT4 CASR GNAS IL23R CTRC IL10 MT-CO3 FAS CIDEC PRSS1 MT-TQ BCKDHA PRTN3 SLC25A13 MT-CO1 ATP8B1 CBS MT-TS2 GPR35 MT-ND5 ERAP1 TLR4 G6PC NDUFS3 LMNA FLI1 BCKDHB HLA-DPA1 PPARG XPNPEP3 NSMCE2 HMGCL MT-ND6 UBAC2 CAV1 AGPAT2 CTLA4 HLA-B ABCB4 MEFV KLRC4 MT-TW DBT APOE MT-TL1 IL12A CYBC1 HLA-DPB1 PTPN22 MT-TH MT-ND4 IL12A-AS1 LPL PCCA PNPLA2 C4A AP2S1 PCCB APOC2 TCF4 MT-CO2 IFT172 IKZF1 HP_ANNULAR_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANNULAR_PANCREAS TELO2 KCNAB2 PRDM16 FLI1 GABRD FANCD2 FOXF1 RERE SETBP1 MYCN STRA6 SKI RFX6 RECQL4 RARB SIK3 HP_ACUTE_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_PANCREATITIS APOE BSCL2 CYBC1 LMNA AGPAT2 NSMCE2 HMGCL HP_PANCREATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CYSTS TMEM107 CC2D2A NPHP3 CCND1 GLIS3 GANAB PKD1 PKHD1 TCTN2 VHL TMEM216 WDPCP TMEM231 B9D2 XPNPEP3 WDR19 TMEM67 RPGRIP1 CEP290 PKD2 BICC1 MKS1 RPGRIP1L CSPP1 DZIP1L OFD1 CEP55 RBM8A B9D1 HP_PHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHIMOSIS APC2 FERMT1 DSP NSD1 DKC1 CENPT SETD2 PQBP1 ERMARD CTCF HP_NASAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_OBSTRUCTION NME8 SPAG1 GJA1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 DNAH5 TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 CARMIL2 CCDC40 DNAH9 HYDIN DDC CCDC114 DNAI2 LRRC56 GNAS DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 LRRC6 DRC1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 ANKH RSPH9 NEK10 CCDC65 FGFR1 DNAAF4 DNAAF2 DNAAF3 HP_ABNORMALITY_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPLEEN LYST NOD2 ZAP70 RNASEH2B STAT1 CR2 GCLC JAK2 CD28 IFIH1 CASK GP1BA RSPH4A DDRGK1 AGA HBA1 TBX1 KCNH1 HLA-DRB1 CCDC115 CTLA4 TTC37 EPB42 RAG2 SAMHD1 NCKAP1L RPGRIP1 SLC4A1 RTEL1 GPI ICOS CCDC114 CTNS HFE CEP55 IDS RAB27A HBA2 B2M SUMF1 STAT4 PIK3CD NPC2 PRF1 NPHP3 CPLX1 GDF1 SEC24C GALE OTC ATRX SLC29A3 TP53 PTPRC IL23R PSMB8 SP110 CCDC103 CD3D CD81 GBA PIEZO1 SMPD1 NEU1 NSD2 GSN CCNO SLC25A13 COX4I2 WT1 PRKCD LRRC6 KIF3B PALLD XIAP CLDN1 VPS13A FUCA1 SLC17A5 NEK10 PHKA2 FOXF1 CCDC65 DCDC2 IL7R SOS2 JAK3 CHD7 SLC7A7 TMEM107 SPTB RSPH1 GAS2L2 ALG9 GAS8 TMEM67 PIK3CA NCF2 GPC3 CDON CCND1 STXBP2 SNX14 ATP8B1 INPP5E SOS1 GP1BB EPB41 NGLY1 RFWD3 PSAP DNAL1 G6PD DNAH9 PKLR KLF1 TBXAS1 TNFSF12 UBAC2 APOE ATP6V1B2 RMRP MKS1 CTSK PHKG2 DYNC2LI1 HBG2 GLRX5 CALR GATA1 SKIV2L ADA DNAI2 ABL1 LACC1 NEK8 SGSH SETBP1 GLB1 GUSB ERCC8 FASLG MS4A1 FAH NLRP1 RELN DNASE1L3 KRAS DNAAF1 RASGRP1 HBB AIRE BRAF DNAH1 IL12A CCDC47 FAM111A COG7 GAA CTC1 NFKB1 STEAP3 LBR RNASEH2C FMO3 DCLRE1C RAG1 MRAS SNX10 C4A OFD1 TET2 TNFRSF1B APOC2 DKC1 TNFSF11 CYP7B1 COX10 DNAAF3 MEGF8 TREX1 RPGRIP1L TNFRSF13C MAGT1 VPS45 TMEM216 DNAAF5 MVK BPGM GNPTAB ABCB11 NOTCH1 TERC PEX7 MIF F5 IFT172 COMT COG5 WNT3 LETM1 HMGA2 ACVR2B USB1 BCL2 CCR1 GBE1 MPL SLC30A10 GPC4 STAT3 GLIS3 TCTN2 MYC AKR1D1 NLRP3 PEPD ZEB2 THPO OSTM1 KCNN3 FERMT3 TNFRSF11A SPEF2 PTEN RAB23 PEX2 KCNAB2 LIPA ORAI1 APOA1 RSPH9 CA2 BTD AKT1 DNAAF2 ABCA1 CDIN1 IDUA SLC2A1 NPM1 XK ERAP1 NCF1 IRF8 MAN2B1 BRCA1 TTC25 FAS LMNA IL1RN TCIRG1 GPD1 ARMC4 PPARG CYBB CD27 ANK1 RAC2 RNASEH2A CLCN7 LAT PKHD1 TNFRSF1A JAK1 NFKB2 CD40LG KCNN4 RRAS NOTCH2 RUNX1 MEFV CTSA HLA-B FGFR2 TRNT1 GABRD TNFRSF13B RIT1 COG4 NOP10 STRA6 SC5D SH2B3 SCARB2 ATP7B WDR35 TNFRSF4 LPL KPTN CCDC39 DNAI1 SMAD4 CASR STIM1 NCF4 NBEAL2 TCF4 INPPL1 GNE PIK3C2A RERE NME8 SCYL1 BCR IL6 RPGR HPGD CPOX LYZ CASP8 ERCC6 CD19 TALDO1 CCDC151 HBG1 ALMS1 RRAS2 CAVIN1 NRAS RASA2 RPSA SPTA1 COG6 UFD1 AP3D1 BSCL2 VPS33A PDGFRA ABCG8 FARSA LEMD3 TERT HEXB ITCH HYLS1 CDKN2A OCLN IL10 HK1 CFAP410 ZMYND10 FGB RHAG GPIHBP1 DNAAF6 RREB1 CAV1 ABCB4 ABCD3 ESCO2 CFAP298 SRSF2 BACH2 IL2RG HIRA ERBB3 TGFB1 STK36 CDAN1 HAVCR2 DNAAF4 NLRC4 B9D1 ASAH1 LPIN2 ADAR CYBC1 ALDOA ATP6AP1 ASXL1 SLCO2A1 IFNG A2ML1 CASP10 RAF1 DNAH11 CD3E FGA CD70 CYBA SOX10 COG1 NLRP12 PNP RNU4ATAC SKI MPIG6B CCBE1 MMP21 GATA2 UROS PSMB9 SF3B1 RARB HAMP STX11 RIPK1 LCAT ALG1 WRAP53 IL12A-AS1 MNS1 NAGLU CEP290 BRCA2 ZIC3 FOXJ1 NHP2 PLEKHM1 CBL CFC1 JMJD1C DHCR24 HSD3B7 DLK1 FGG SPAG1 MST1 GYPC LIG4 CFAP300 ADAMTS3 CC2D2A DNAH5 TPP2 SEC23B MYRF IL2RB TMEM231 DGUOK PALB2 CCDC40 GPC1 HYDIN DZIP1L IARS1 LRRC56 SAMD9 MMUT PTPN11 PSTPIP1 PSMB4 SLC39A4 CD247 CFAP221 AP3B1 GALK1 MEG3 WDR1 B9D2 PRDM16 LRBA DRC1 PARN BMP2 RTL1 SH2D1A IL2RA TPI1 GPR35 PIGM CENPF TWIST1 TINF2 GNS TTC12 TLR4 FOXP3 UNC13D CTBP1 ALAS2 ARVCF BCL6 WDPCP FGFRL1 DOLK GFI1B FAT4 RINT1 G6PC3 HJV ADA2 PIK3R1 CSPP1 AGPAT2 MYD88 KLRC4 HGSNAT ALPK1 MYCN LZTR1 DNAJB13 MCIDAS MCM4 PHYH COG2 ATM NPC1 IFNGR1 RSPH3 BTNL2 SAMD9L UMPS CARD11 ARSB DPM1 RBM8A ITK HP_SPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLENOMEGALY LYST NOD2 CR2 JAK2 CD28 IFIH1 CASK GP1BA DDRGK1 AGA HBA1 TBX1 KCNH1 HLA-DRB1 CCDC115 CTLA4 TTC37 EPB42 SLC4A1 RTEL1 GPI ICOS CTNS HFE IDS RAB27A HBA2 B2M SUMF1 STAT4 PIK3CD NPC2 PRF1 SEC24C GALE OTC ATRX TP53 PTPRC IL23R PSMB8 CD81 GBA PIEZO1 SMPD1 COX4I2 PRKCD XIAP CLDN1 VPS13A FUCA1 SLC17A5 PHKA2 DCDC2 IL7R CHD7 SPTB TMEM67 PIK3CA NCF2 GPC3 CCND1 STXBP2 ATP8B1 RAG2 INPP5E GP1BB EPB41 NGLY1 PSAP G6PD PKLR KLF1 TBXAS1 TNFSF12 UBAC2 APOE ATP6V1B2 RMRP CTSK PHKG2 DYNC2LI1 HBG2 GLRX5 CALR GATA1 SKIV2L ADA ABL1 LACC1 SGSH GUSB ERCC8 FASLG MS4A1 FAH NLRP1 DNASE1L3 KRAS RASGRP1 BRAF IL12A CCDC47 COG7 GAA CTC1 NFKB1 FMO3 DCLRE1C RAG1 SNX10 C4A TET2 TNFRSF1B APOC2 DKC1 CYP7B1 COX10 TREX1 RPGRIP1L TNFRSF13C MAGT1 VPS45 MVK BPGM GNPTAB ABCB11 NOTCH1 TERC PEX7 MIF F5 IFT172 COMT USB1 BCL2 CCR1 MPL SLC30A10 GPC4 GLIS3 AKR1D1 NLRP3 PEPD THPO OSTM1 KCNN3 FERMT3 TNFRSF11A PTEN PEX2 LIPA APOA1 CA2 BTD AKT1 HBB ABCA1 CDIN1 IDUA NPM1 ERAP1 NCF1 IRF8 MAN2B1 FAS LMNA IL1RN TCIRG1 GPD1 PPARG CYBB CD27 ANK1 RNASEH2A CLCN7 LAT PKHD1 TNFRSF1A NFKB2 CD40LG KCNN4 NOTCH2 RUNX1 LBR MEFV HLA-B TRNT1 TNFRSF13B COG4 NOP10 SH2B3 SCARB2 ATP7B WDR35 TNFRSF4 LPL STEAP3 CASR NCF4 NBEAL2 TCF4 INPPL1 PIK3C2A SCYL1 BCR IL6 HPGD CPOX LYZ CASP8 ERCC6 CD19 MKS1 HBG1 ALMS1 CAVIN1 SPTA1 COG6 UFD1 AP3D1 BSCL2 PDGFRA ABCG8 TNFSF11 TERT OCLN IL10 HK1 CFAP410 RHAG GPIHBP1 RREB1 CAV1 ABCB4 ABCD3 SRSF2 BACH2 IL2RG HIRA ERBB3 TGFB1 CDAN1 HAVCR2 NLRC4 LPIN2 CYBC1 ALDOA ATP6AP1 ASXL1 SLCO2A1 IFNG CASP10 CYBA SOX10 NLRP12 PNP RNU4ATAC NEU1 MPIG6B ASAH1 CCBE1 ZAP70 GATA2 UROS PSMB9 SF3B1 HAMP STX11 RIPK1 LCAT ALG1 WRAP53 IL12A-AS1 NAGLU NHP2 PLEKHM1 CBL JMJD1C DHCR24 HSD3B7 SLC7A7 MST1 ITCH GYPC LIG4 ADAMTS3 CC2D2A TPP2 SEC23B IL2RB DGUOK GPC1 DZIP1L NRAS SLC29A3 FGA MMUT PSMB4 SLC39A4 AP3B1 WDR1 LRBA PARN BMP2 SH2D1A TPI1 GPR35 PIGM TINF2 GNS TLR4 FOXP3 ALAS2 ARVCF VPS33A BCL6 DOLK GFI1B FAT4 RINT1 G6PC3 HJV ADA2 PIK3R1 SLC2A1 AGPAT2 TALDO1 MYD88 GLB1 KLRC4 HGSNAT ALPK1 MCM4 PHYH GNE ATM NPC1 IFNGR1 BTNL2 SAMD9L UMPS CARD11 ARSB DPM1 ITK HP_ACCESSORY_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_SPLEEN TMEM107 CC2D2A CPLX1 TCTN2 HYLS1 TMEM216 NSD2 MYCN CTBP1 MYRF MKS1 WDPCP TMEM231 ESCO2 B9D2 FGFRL1 LETM1 TMEM67 RPGRIP1 CEP290 RPGRIP1L CSPP1 CEP55 CENPF B9D1 HP_POLYSPLENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYSPLENIA NME8 SPAG1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 GPC3 CDON DNAH5 TTC25 GPC4 RSPH4A DNAAF5 CCDC151 RFWD3 ARMC4 DNAL1 DNAH11 RAB23 CCDC40 DNAH9 HYDIN CCDC114 DNAI2 NPHP3 LRRC56 GDF1 MMP21 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 MYCN CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 WDR35 LRRC6 DRC1 ZIC3 FOXJ1 CFC1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 MEGF8 HP_SINGLE_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_VENTRICLE STRA6 SIX3 GDF1 NSDHL ZIC3 HP_VESTIBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_DYSFUNCTION SDHD USH1G JAK2 TECRL NPM1 PCDH15 NAGA ZBTB16 GJB6 SDHB TWNK MVK CALM1 COCH NABP1 KCNJ10 ALMS1 RET SLC1A3 STAT5B FOXI1 GCDH MPL EPAS1 STAT3 THPO MYO7A CACNB4 VHL RYR2 CDH23 RFC1 CCR1 CALM2 TRPM4 SLC26A4 CLRN1 STAT4 MT-TS2 B2M TMEM127 USH1C CACNA1A PRKAR1A DBH CTNNB1 OTOGL CIB2 SOX6 CEP78 IL23R PTPN22 IL10 SDHAF2 FAS GLA FH SCN1A PML CACNA1G PTPRQ TRDN BCOR MYL2 CNNM2 HARS1 TBL1XR1 ESPN MYO6 GJB2 NF2 PDGFB CASQ2 CCND1 ATXN3 ADA2 ERAP1 FXN MAX TLR4 ATP1A2 DNMT3A MDH2 RARA EGF NARS2 NKX2-5 TPK1 FLI1 SCN1B SCN5A AIP CLIC5 SH2B3 CLCNKB SLC39A14 MEN1 DKK1 NUMA1 SCN2A UBAC2 TNFRSF1A JUP SDHC KCNA1 DLST MYD88 MEFV HLA-B GYG1 SDHA FIP1L1 KLRC4 GATA2 SLC12A3 TET2 SLC25A11 IL12A NF1 GJB3 BRAF TIMM8A POLG PRRT2 COL3A1 IL12A-AS1 C4A ARSG NOP56 IRF2BP2 CALM3 EPOR KIF1B HP_VESTIBULAR_HYPOFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_HYPOFUNCTION MT-TS2 USH1G USH1C OTOGL MYO7A CEP78 HARS1 ARSG PCDH15 CDH23 ESPN CLRN1 CIB2 HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT ASAH1 FGF3 ZMPSTE24 FKBP14 LMNA HP_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_CAVUS SPG11 REEP1 NFIX DNM1L ANOS1 ABHD12 PEX5 SYNE1 PODXL BSCL2 MFN2 SETX LONP1 KIF5A GARS1 TTPA FGF17 NIPA1 POLG PMP22 USP9X MYT1L PROKR2 RTN2 ALDH18A1 REEP2 SUZ12 TPM3 TRMT1 MYH7 KANSL1 ACTL6B LITAF SLC33A1 IDS SOX10 IL17RD FEZF1 VCP CAPN1 FBXW11 SPG7 FLNA MED13 GBA SORD GBA2 SPART FLRT1 NEB IFRD1 B4GALNT1 DNM2 NSUN2 ACTL6A SYT2 TANC2 TDP1 MSTO1 MPZ SPAST NEFL NEFH DCAF8 SLC25A46 PDXK GAN SACS SPEG HARS1 GJB2 SIGMAR1 EZH2 FBXO38 FDX2 C19orf12 B3GLCT ANO10 PIK3CD FXN DOCK3 DDX6 PRX PEX10 DNAJB2 LMNA ATL1 NARS1 TRPV4 GDAP1 GALC GCH1 GNB4 PIGN MAFB HESX1 SNAP25 RUSC2 LBR PDK3 HADHB TH LAMP2 ATP6V1B2 FBN1 CARS1 ATP7A NF1 HINT1 MPV17 FITM2 MMP2 HDAC8 FGF8 SLC5A7 RYR1 HSPB1 COQ8A RET VAMP1 MORC2 NTNG1 TCF20 CHAT MECP2 C12orf65 PLEKHG5 AIFM1 UBE2A AGRN WARS1 INF2 ATP1A3 HADHA MYPN HS6ST1 DDHD1 ACTA1 SH3TC2 ATP1A1 CCDC141 MAP1B HSPB8 ZMIZ1 SLC18A3 RAB11B COASY GJC2 SBF2 CTDP1 IQSEC2 GRIN2A CAV3 GMPPA DCC RSPRY1 TWNK SLC25A1 DNAJC6 BAG3 CYP7B1 TRAPPC11 TTN IBA57 CHD7 PEX7 SEMA3A CUL4B KARS1 MME CHMP1A TRIM2 PRPS1 SLC6A8 FBLN5 COL13A1 KMT2E PMP2 IFIH1 PYROXD1 EED COX6A1 ATP13A2 WDR73 GJB1 MED25 ALS2 ZFYVE26 FGD4 SVBP LAS1L L1CAM RAB7A NLRP3 DMXL2 HK1 PDHA1 PQBP1 KCNN3 WDR11 KBTBD13 KCNH1 VPS13A PLP1 ZBTB20 WASHC5 BIN1 VPS13D REPS1 PMPCA ERLIN2 KIF1B CHCHD10 PEX2 GTF2E2 NSMF AAAS KLHL41 PCGF2 KLC2 PNKP UCHL1 RLIM XRCC4 BPTF FGF14 CPT1C FHL1 HSPD1 FGFR1 APTX WDR26 MAP3K7 PSMD12 TACR3 HSD17B4 CHP1 OPA3 LRSAM1 OPA1 BCORL1 MYO9A FLRT3 DYNC1H1 DUSP6 NSD1 EGR2 SPRY4 IDUA NDNF SPTLC1 PCNA PROK2 COA7 TPM2 DYSF ERCC5 PHYH DHH SYNJ1 MTTP KNSTRN WDFY3 TRAPPC4 AARS1 KISS1R MRE11 HP_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVARUS NT5C2 SCYL1 NALCN PEX5 FOXG1 COL5A2 ADGRG6 EVC FBN2 COL6A1 TBX1 ATRX SF3B4 FLNB KIAA1109 TP63 TRPV4 TNNI2 REV3L ATP6V0A2 BCOR MYMK KY RAB23 BICD2 MYH3 TPM2 CHST14 ACTA1 SLC26A2 UFD1 MED13L STAC3 PIEZO2 MAPK1 COG4 AMER1 SUZ12 NDRG1 MAP3K20 RAI1 B3GALT6 PLOD2 CPLX1 SEC24C GLI3 MEGF8 HACE1 TBX15 HYLS1 ATP6V1A HSPG2 MEGF10 TWIST2 GTPBP2 NSD2 DONSON NEK9 COL1A1 COL1A2 DSE AP4B1 ATAD1 RREB1 HBA2 ITGA8 ANK1 HIRA DPYS FIBP ARSI ALG3 JPH1 LIMS2 MYH7 ZNF148 GAN SPEG PRUNE1 GSC DST PEX1 TGFBR2 ALDH18A1 NKAP EZH2 GPC3 KDM5C MAN2B1 IRF6 ORC6 OTUD6B RAB3GAP2 BMPER SNRPN ALG14 ITGA7 SNX14 MAFB GPC4 FKBP10 TNNT3 CEP55 COL6A2 UNC80 ZFYVE27 GDAP1 GP1BB GCH1 SNCA HSPB1 PITX1 TCTN2 LMX1B NELFA PSAT1 MUSK RUSC2 COL6A3 MAP3K7 FBXO7 GPX4 ENTPD1 TH GDF5 COG1 SYNE1 FKTN COL3A1 FAT4 MCTP2 ERGIC1 GLE1 ORC1 DHCR24 HRAS NEK8 SETBP1 SMOC1 RYR1 SATB2 EHMT1 GAD1 EXOC6B SMAD3 SETD2 COL2A1 CHST3 CCDC47 SELENON UBE2A OFD1 GZF1 PEX26 C12orf65 PLOD3 NADSYN1 PTRH2 SOX9 CTU2 COL5A1 MYPN DCHS1 JMJD1C GRIA2 CRIPT ECEL1 FUZ BMPR1B RAB11B CHRM3 SBF2 VANGL1 WNT7A CTDP1 MYH8 CHRNG FLNA PIGB SCARF2 CRLF1 PI4KA GNPTAB TTN CHMP1A TRIM2 LETM1 TGDS RSPO2 EIF4A3 COMT CC2D2A IFIH1 DYNC2H1 PLEKHG5 HNRNPK COG8 ALG8 EED EBP WDR73 IGHMBP2 TGFBR1 DYM FGD4 B9D1 SAMD9 NDE1 SHROOM4 RBM10 SKI BRPF1 L1CAM TMTC3 B3GAT3 APC2 NECTIN1 SLC6A9 HK1 ZC4H2 CCBE1 PEX2 HACD1 HBA1 TRAIP C12orf57 BIN1 COLQ STXBP1 ERCC5 IHH SALL4 TAZ ADAT3 EVC2 RECQL4 HSD17B4 ZSWIM6 EIF2S3 AMMECR1 DMPK MYBPC1 CANT1 TPM3 PLXND1 MYL2 KIF1A MFSD2A SLC25A19 AP4M1 COL12A1 COQ8A ARHGAP31 CTBP1 LGI4 ARVCF AP4S1 MSX1 ALG12 SLC35A2 KAT6B FGFRL1 NSD1 TAF1 RINT1 LAMB2 CHN1 TBX4 GUSB TOR1A ATP6V1E1 TBC1D23 B4GALT7 PLOD1 SMS TGFB3 MTMR2 LIFR DHX16 SYT1 TGFB2 SC5D SH3PXD2B H1-4 AP4E1 USP8 MTTP CTH FKBP14 DES TMCO1 RBM8A SEC31A HP_PES_PLANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_PLANUS ABL1 CLIP2 TET3 ATP6AP2 ANOS1 PUF60 RPS6KA3 TCF4 FOXG1 MGAT2 ATP7A AP4M1 XYLT1 AEBP1 AGA ATRX TGFBR2 DMD TPM3 ALMS1 ALG2 PRKG1 GARS1 BRCA1 ATP6V0A2 GDI1 FGD1 FGF17 COL5A2 USP9X SKI ASXL3 PROKR2 PYCR1 FLII HNRNPH2 HCN1 BPTF MAPRE2 MAPK1 ACTA2 SLX4 TPM2 COL1A2 FIBP FMR1 FBXO11 KANSL1 TGFBR1 RAI1 SMAD4 IL17RD FEZF1 GABRG2 FANCB NSD1 SLC29A3 B4GALT7 ARHGEF6 PEX6 SBF1 GTF2IRD1 HSPG2 GTF2I SMAD3 FANCM COL1A1 AP4B1 AP4E1 SLC9A7 MYH7 SEC23A RFC2 PALB2 MYPN ELN MYH11 FN1 TGFB1 ZNF148 GAN DLG3 XYLT2 SCN9A FBN1 MYLK BCR ATR GFPT1 TBL2 SNRPN DEAF1 PCDH19 FANCI GDF5 STX1B SELENON XRCC2 UPF3B HESX1 CNOT3 EXT2 NDUFAF6 MED12L SALL4 RAD51C PMPCA IQSEC2 ATP6V1B2 MMP2 HDAC8 FGF8 C12orf57 TRIO COL2A1 LIMK1 MFAP5 SETD2 GRIA3 SALL1 DHX30 FANCE CHST3 MED12 ZNF469 SCN2A SCO2 ACSL4 GABRD RIN2 TGFB2 COL5A1 HS6ST1 SIL1 KIF22 STAG2 RAD51 CCDC141 TLK2 SCN1B DPH1 VPS13B TTN VLDLR FLNA PIEZO2 PACS1 CEP152 IFITM5 MAT2A DCC RSPRY1 TRPS1 CRLF1 ZNF81 PMM2 CHD7 MAB21L2 GMPPB SEMA3A TRPV4 PAK3 PRDM5 GRM1 BSCL2 FANCD2 RLIM HNRNPK PYROXD1 CUL4B PDE4D CCNK UBE2A SYP MECP2 BRIP1 MID2 DYM CRKL FKBP14 BGN LAS1L B3GAT3 RAB7A APC2 AGTR2 ZNF711 ZEB2 CDK10 AHCY AP4S1 HERC1 WAC KCNN3 WDR11 FOXE3 KCNH1 CNKSR2 SOX5 SCN1A SLC16A2 ALG14 TRMT1 EXOC6B TGFB3 CTSC CLCN4 ERCC4 RYR1 GDF6 NONO FANCF CHCHD10 WASF1 NSMF ALG13 AMMECR1 CANT1 CHD8 UCHL1 DPAGT1 ZNF41 IARS2 COL12A1 KDELR2 EP300 PTCHD1 PHF8 DPM3 TSPAN7 RAB39B BRCA2 ZDHHC9 DACT1 ADGRV1 KAT6A SOX10 FLI1 FRMPD4 BRWD3 FANCC CREBBP FGFR1 FLNB GRIN2D ATP6V1E1 USP27X ARX TACR3 PLOD1 CXorf56 GORAB TBX4 BAZ1B MTOR METTL23 B3GALT6 LMX1B FLRT3 DLG4 LOX GATA4 STXBP1 PIGG DUSP6 SLC39A13 SPRY4 LMNA SPRTN FANCL GABRA1 HK1 CUL7 NDNF UBE2T RFWD3 PROK2 FANCG SLC10A7 FANCA IL1RAPL1 MAD2L2 FTSJ1 HCFC1 SARS1 CSGALNACT1 KISS1R RAB33B TMCO1 TBL1XR1 HP_HAMMERTOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMMERTOE MPZ SBF2 REEP1 PMP22 MYH8 BMPER SPART TRPV4 AEBP1 BSCL2 GDAP1 GARS1 PEX7 GNB4 KAT6A BCOR FBN1 TOR1A MPV17 CHP1 LRSAM1 VCP HARS1 EGR2 RAB7A SLC35A3 DHCR7 PLEKHG5 COA7 INF2 SYT2 PHYH NEFL DCAF8 PDXK SACS SIGMAR1 PRX AARS1 KIF1B MFN2 CHCHD10 HSD17B4 HP_BROAD_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOOT PHGDH B3GLCT DYM NSD1 GPC3 MSL3 AIP PHF6 XYLT1 NLRP3 GPC4 FGD1 CCDC28B GPR101 ARL6 LMBR1 AIFM1 TBL1XR1 EED PTH1R SUZ12 PDE4D MASP1 BBS1 PSAT1 GDF6 BMPR1B FGFR1 EZH2 HP_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_SYNDACTYLY TP63 SALL4 GLI3 SMO SF3B4 NOG DMD SHANK3 BRCA1 GDI1 BCOR CD96 APC ITGB4 RAB23 NECTIN4 MEIS2 IFT140 FLII SLX4 ARCN1 CREBBP NEDD4L CKAP2L RAI1 FGFR1 FGFR2 LIG4 FANCB HDAC8 ARHGEF6 TBX15 FBLN1 BMP2 RPS6KA3 TWIST2 CLCF1 KCTD1 IFT172 DHCR7 FANCM HOXD13 RIPK4 DYNC2I1 PALB2 TBCK SETD5 MYCN IFT80 NECTIN1 DLG3 TTC21B MEF2C GPC3 BCR TELO2 TBR1 DEAF1 FANCI MAN1B1 NEK9 CEP55 XRCC2 SMAD4 UPF3B ZMIZ1 SOX5 SMC1A CCNQ LRP4 TXNL4A USP9X RAD51C IQSEC2 MCTP2 TRIO TTI2 SMOC1 SHMT2 SETD2 SMARCAD1 SALL1 WNT10B FANCE MED12 ATP6V1B2 PHGDH CPLANE1 SHH ACSL4 PIK3CA GRIP1 MRPS28 CERT1 EBP RAD51 TBX22 SMC3 KIF7 RBBP8 MEGF8 LMBR1 WNT7A MYH8 CNOT2 NIPBL DYNC2I2 MIR17HG DYNC2H1 BMPR1B ZNF81 PDE6D SIN3A PLEC CUL4B PAK3 NXN FANCD2 CDC45 SYP MECP2 FDFT1 BRIP1 PORCN GPC4 MED25 SLC39A8 DDX6 MID2 GJA1 CRKL DYNC2LI1 APC2 AGTR2 ZNF711 SVBP SC5D DDX11 RPL10 CTCF ARL6IP6 MAPK1 CNKSR2 PSMD12 KMT2A IRF6 POLR3A B3GLCT CEP120 ERCC4 TFAP2B GDF5 CLCN4 EFNB1 RBPJ FANCF SIK3 ALG13 NSUN2 SLC12A2 ZNF41 PIGY ARHGAP31 PTCHD1 TSPAN7 RAB39B BRCA2 DACT1 ROR2 RHOA NSD1 SLC9A7 KCNJ2 FLI1 FRMPD4 FANCC TWIST1 OTUD6B HDAC4 ADNP DYRK1A USP27X ARX BHLHA9 CXorf56 BMP4 BMS1 SLC12A6 EP300 STAG1 PUF60 FREM2 FANCL FLNA IL11RA WDR19 SYT1 UBE2T RFWD3 TCTN3 FANCG FANCA IL1RAPL1 GNE MAD2L2 FGF9 FTSJ1 HCFC1 FIG4 RAD21 DLL4 FBXW11 CSGALNACT1 FRAS1 HP_ACHILLES_TENDON_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHILLES_TENDON_CONTRACTURE ALS2 PLEC ABHD12 FKRP SYNE2 SGCA COL6A2 TMEM43 POMT1 ZC4H2 NGLY1 BICD2 TTN SGCG EMD NSUN2 LARGE1 LMNA FHL1 SYNE1 MT-TE PTRH2 ACTA1 HINT1 KY OPA1 FKTN MYOT GJB1 ADAT3 HRAS CRPPA HP_TALIPES_EQUINOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVALGUS CHST3 ESCO2 TNNT3 PTRH2 FLNB CLTCL1 B4GALT7 GDF5 B3GAT3 HP_SHORT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOOT WDR35 FMR1 TBCE HTT USP7 CHSY1 NOG IGF1R DYNC2I2 SPART DYNC2H1 MAP3K7 BPNT2 DLK1 MECP2 CUL4B FGD1 USP9X BMPR1B LMBR1 IFT140 FGFR3 SMC3 COL3A1 SMC1A PIGL MKRN3 SNORD115-1 MEG3 WNT7A ASXL1 UBE2A FBXO11 MAPK8IP3 RTL1 BBS1 GPC4 MBD5 FGFR1 NTNG1 MAGEL2 FGFR2 LIG4 NDN B3GALT6 COL2A1 HDAC8 IFT80 SNRPN LAS1L HDAC6 BGN SLC26A2 DYNC2LI1 CCDC28B IFT172 GJA1 NIPBL TRIP11 SON CCBE1 TRRAP KCNAB2 PRDM16 FBXL4 DYNC2I1 KMT2A OCA2 WDR19 B3GLCT CEP120 IHH TTC21B CAMK2G GPC3 RECQL4 DYRK1A KDM5C TELO2 SATB2 CENPE NSUN2 SLC35C1 FBN1 SHOX GALNT2 HUWE1 CDKL5 TRPS1 COL11A1 SHROOM4 PWRN1 PIGN SETD5 GABBR2 GDF5 KCNJ2 SIM1 HERC2 HDAC4 BMP2 MASP1 SKI WDR81 PWAR1 PPM1D EXOC6B GABRD MSL3 NGLY1 CCDC47 COG1 ADAMTSL2 STXBP1 ARL6 LTBP3 TBL1XR1 NPAP1 CERT1 FAM50A KLHL7 PTH1R RAD21 INPPL1 TUBB3 SNORD116-1 RERE HP_BILATERAL_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TALIPES_EQUINOVARUS MAN2B1 PSAT1 SATB2 PIEZO2 RSPO2 CTU2 EBP SNRPN SLC26A2 MAPK1 SYT1 GDF5 UBE2A DHCR24 ATRX HP_ABNORMALITY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TOE CLIP2 PUF60 GJA5 SOX4 ARMC9 EVC XYLT1 WNT5A IFT122 SF3B4 KCNH1 DMD SHANK3 BRCA1 FLNA LARS1 GDI1 MGP CEP152 KCNA1 TBX1 EOGT B9D1 NOTCH1 ARCN1 CREBBP PIGQ CEP55 NEDD4L FGFR1 VCP FGFR2 LIG4 SIK1 GJA8 FAM20C HDAC8 GLI3 SLC29A3 ARHGEF6 TBX15 CENPJ KCTD1 IFT172 NSD2 SLC35A3 DHCR7 ASXL1 FANCM THOC6 KATNIP ACTL6A KCNJ8 RPGRIP1L DYNC2I1 NEFL FIBP ALG3 EP300 PDXK GLI1 NECTIN1 OFD1 HOXD13 TMEM107 ROR2 FGF10 PDE4D TBL2 TBR1 GPC3 COX7B DEAF1 ZMPSTE24 CIBAR1 XRCC2 GP1BB UPF3B CCNQ SETD5 NELFA TXNL4A TMEM237 MYOD1 SALL4 CPLX1 IQSEC2 PYCR2 MKS1 FBN1 ACTB VAC14 LIMK1 HARS1 TP63 SMARCAD1 WNT10B SCN1B SMARCA2 ATP6V1B2 GJB6 AHI1 CKAP2L PLK4 EXT2 GMNN LBR SMS CENPE EBP RAD51 YY1 SMC3 KIF7 RBBP8 PIEZO2 IGF1R HSPG2 BPNT2 SIN3A MPZ TMEM216 ACAN EIF4A3 KMT2E FANCD2 COMT MKKS WNT7A COL6A3 MECP2 FDFT1 SOD1 MED25 DLEC1 TCTN1 NAA10 CRKL TCTN2 EIF2AK3 PIGL WIPI2 LMBR1 SMARCD1 NOG RPL10 TWIST2 RAB23 CNKSR2 PIK3CA SLC16A2 TWIST1 DYNC2LI1 GRIP1 C12orf57 B3GLCT GDF6 EFNB1 RBPJ AKT1 NONO SIK3 ZSWIM6 LTBP4 NSUN2 CANT1 AEBP1 CEP120 PHF8 BMP2 TCF12 NSD1 KCNJ2 RNF6 FHL1 DVL1 EVC2 FRMPD4 GJA1 FANCC SHOX PSMD12 ARID1A B4GALT7 PIBF1 PPP2R1A BMP4 PRKAR1A ZEB2 TLL1 ELN B3GALT6 GATA4 STAG1 NOD2 WDR19 SC5D SMARCC2 TBCK MAD2L2 INTS8 FGF9 TBL1XR1 FTSJ1 LMNA HCFC1 WDFY3 DLL4 FBXW11 FRAS1 RERE TMCO1 ALOX12B TBX3 HPGD IL7R HOXA13 COX4I1 SUMF1 GARS1 PIGV CD96 APC NECTIN4 USP9X MYT1L UFD1 KIF1A RMRP MAPK1 SLX4 AMER1 SUZ12 TRMT1 FBXO11 ACTL6B KAT8 RAI1 MED13 FAM149B1 GTF2IRD1 DLK1 SYT2 RFC2 PALB2 HNRNPK TRIP12 PDE6D IFT80 GATAD2B SIGMAR1 XYLT2 HRAS EZH2 DYRK1A BCR ATR DDX6 KIAA0753 TNNT3 TMEM138 WNK1 GCH1 ZMIZ1 SMARCE1 DSP LRP4 GHR COL2A1 PTRH2 MPV17 MCTP2 TTI2 BBS2 CEP41 SETD2 TRIO WDPCP FANCE CHST3 ACVR1 NEUROD2 ZNF469 KCNN3 CPLANE1 NEK1 FGFR3 NKX2-6 CEP290 MRPS28 TRAIP JMJD1C ATL3 BMPR1B MFN2 PMP22 INTS1 CNOT2 DYNC2I2 SPART RSPRY1 ABCA12 ZNF81 DDX59 GDAP1 CUL4B NRAS TMEM231 NEK9 GPC4 RHBDF2 TRIM8 PORCN ALOXE3 CC2D2A SCN9A SOX11 SVBP RTL1 CCDC28B TRPV4 NIPBL ARL6IP6 PRDM16 ESCO2 SOX5 MTX2 IHH GDF5 CLCN4 KIF1B FANCF ALG13 GATA6 SATB2 PRKACB PPP2R5D PCGF2 TAF6 RLIM ZNF423 PTCHD1 ODC1 ARVCF DACT1 RNU4ATAC FLI1 HDAC4 TOR1A CASK CPT2 COL6A1 ABCC9 CHP1 BAZ1B ARX FANCL PHF6 BHLHA9 SALL1 MYCN TCTN3 COA7 HSPB1 GNE FREM1 DCPS NPR2 TBX4 TRAPPC4 FLNB AARS1 IFT43 BSCL2 KIAA1109 ARID2 BCOR TRMT10A MEIS2 IFT140 TPM2 RPGRIP1 BPTF MLXIPL SLC35C1 MBD5 COL12A1 SEC24C ADAMTS2 PSMB8 TBC1D24 MEG3 GBA FBLN1 CLCF1 GTF2I SETBP1 COL1A2 HBA2 RIPK4 SMARCD2 DCAF8 SACS NPHP3 TTC21B WWOX CHD7 TELO2 OTUD6B DOCK3 BMPER MAN1B1 RAG2 SPECC1L SLC25A22 SMC1A INPP5E ARHGAP31 DLX5 PPP1R15B GPX4 CTSK COL3A1 ADA PLAA SHMT2 C2CD3 MTM1 HERC2 NTNG1 TCF20 CCDC47 UBE2A SHH ERCC1 ARL6 NOTCH2 IFT52 CERT1 CEP104 CDKL5 PRX RAB11B MEGF8 SBF2 CHRNG DYNC2H1 DPF2 CSPP1 PEX7 PLEC PAK3 PRDM5 LETM1 DNMT3A TMEM94 RAG1 POLR3A COG8 EED GNAS CDC45 SLC39A8 ERMARD RETREG1 CHST11 B3GAT3 AGTR2 DDX11 SCN2A CTCF KCNAB2 ERF IRF6 HBA1 DMXL2 IFT57 ERCC4 TFAP2B PIGH SRY HSD17B4 GNAO1 TMEM260 SLC12A2 PNKP ZNF41 PIGY CDC42 COL6A2 USP7 ALG12 SOX9 SLC9A7 RAB3GAP2 CXorf56 SLC12A6 PIGG GABRD FREM2 NT5C2 STXBP1 KIAA0825 UBE2T PTEN PTH1R RAD21 SMARCB1 CSGALNACT1 REEP1 CHSY1 SMO ALMS1 EXTL3 ITGB4 ATRIP MYH3 SLC26A2 FLII ARID1B FANCB HYLS1 BMPR1A RPS6KA3 VPS13B RREB1 TANC2 CCDC22 IL2RG HIRA DLG3 MEF2C ASAH1 NUP107 SNRPN SLCO2A1 LIFR FANCI ATN1 SMAD4 TMEM67 PITX1 MED12 GNB4 PIGN PTHLH SMARCA4 ARL13B RAD51C MMP2 SKI SMOC1 PLEKHG5 PHGDH TGFBR2 INF2 ACSL4 IRX5 TBX22 ITCH MYH8 SCARF2 MIR17HG NBAS NXN PIGP SYP BBS1 BRIP1 CILK1 MID2 PCNT PIGO FIG4 RAB7A APC2 ZNF711 SLC6A9 B9D2 ERLIN2 KMT2A KIAA0586 CHCHD10 WASF1 KRAS RAB3GAP1 GALNT2 HSPB8 HUWE1 NKX2-5 CTBP1 TSPAN7 RAB39B BRCA2 KAT6A NSDHL ARL3 RHOA FGFRL1 DOCK6 DOLK ADNP USP27X LRSAM1 BMS1 BCORL1 EGR2 IL11RA SYT1 RFWD3 FANCG FANCA PHYH IL1RAPL1 DCLRE1C SVIL HP_BROAD_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METATARSAL NEK1 FBN1 CANT1 FGFR2 PDE4D ADAMTS10 NPR2 MMP2 ABCC9 FGFR1 RAB33B HP_ABNORMAL_DELIVERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELIVERY PTCD3 JAK2 KLHL41 CYP11A1 ENG OPA1 CD109 ACTA1 HOXA13 PTPN23 GP1BA GP1BB F2 MYH3 ABCC6 MKS1 ATP6V0A2 F8 LMNA KLHL40 MTMR14 SYCP3 MGP ITGB3 CACNA1D COL5A2 TAF1 ANXA5 MPL COL1A1 THPO GPHN TPM3 SERPINH1 SERPINC1 LMOD3 F13A1 ORC1 PLOD1 F5 C11orf80 KDM3B FGA CYP11B1 SHPK ADAMTS2 ENPP1 ZMPSTE24 NEB DNM2 MYPN FGB XIST FGG DHCR7 COL1A2 CYP11B2 SLC26A2 TPM2 MEG3 KBTBD13 MYF6 ALB SERPINE1 RYR1 BIN1 POLR3A COL5A1 RTL1 ITGA2 HTR1A ITGA2B CRTAP PEX1 DLK1 F13B WRN HP_PREMATURE_RUPTURE_OF_MEMBRANES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_RUPTURE_OF_MEMBRANES SERPINH1 COL5A2 ATP6V0A2 ADAMTS2 COL1A1 PLOD1 COL5A1 ZMPSTE24 LMNA HP_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROPS_FETALIS WDR35 WNT7A GYPC TAPT1 ADAMTS3 HBA1 TALDO1 KIAA0586 GBA PIGA TSR2 FAS CARS2 MMACHC HADHA FLNB RPS17 TRIP11 RPL11 GBE1 CALCRL RPS19 HBA2 AGGF1 COL2A1 ENPP1 FIG4 SLC26A2 PLD1 PTH1R PIEZO1 NEK9 EPHB4 ADA2 AHCY RPL35A PKLR RPS10 RPL35 RPL15 PRKCD RPS7 COL1A1 RPL31 GRIP1 GATB SLC17A5 CDAN1 DYNC2I1 RYR1 ASAH1 MECOM PMM2 SPTB KLF1 HADHB CASP10 NEK1 COL11A1 ABCC6 EPB41 GATA1 RPS24 RPL26 DYNC2H1 FAT4 RPS26 BSND RPS28 DYNC2I2 GUSB GATC FLT4 RPS29 RPL18 QRSL1 NEU1 VAC14 CTSA CCBE1 RASGRP1 UROS IFT80 ALPK3 RPL5 SPTA1 ALG1 LBR SOX18 RPS27 RPS15A COL1A2 NDUFB10 FASLG RPL27 HP_NONIMMUNE_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONIMMUNE_HYDROPS_FETALIS PMM2 CTSA UROS PIEZO1 EPHB4 ADA2 GATA1 RPS24 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 ALG1 RPS7 LBR CARS2 RPS26 RPS28 PKLR SOX18 COL1A1 RPL31 RPS27 RPS17 RPS15A GATB COL1A2 RPL11 GBA GATC CALCRL FLT4 RPS19 NDUFB10 RPS29 RPL18 QRSL1 RPL27 HP_SMALL_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_NAIL RSPO1 ALOX12B KDM1A CLIP2 PIGW NOP10 DLL4 RPS6KA3 CENPT SOX4 PGAP3 CDH1 PIGB PTDSS1 PLEC HOXA13 DPF2 KCNH1 SHANK3 ARID2 PGAP2 PIGV PIGA SHOX NECTIN4 DOCK6 RLIM PIGN HRAS CCDC22 ARID1B POLR3A EOGT GDF5 EED KIF15 SUZ12 MLXIPL WDR73 NOTCH1 ERCC2 GPC4 RIPK4 SMARCAD1 LIG4 PLAGL1 ALOXE3 SOX11 TBC1D24 MPLKIP NSD1 RBPJ ZNF462 GTF2IRD1 APC2 ACTL6B ARID1A GTF2I DNAJC21 EVC MSX1 SMARCD1 HYMAI KCNN3 IKBKG BHLHA9 MEG3 TRRAP COL11A2 RFC2 PIGY HEPHL1 RTL1 DYNC2LI1 TFAP2A ALG3 PPP1CB RERE GLI1 GPC3 TCTN3 CDIN1 ROR2 INPPL1 TELO2 TBL2 NSUN2 TP63 LMX1B PPP2R5D HMGA2 DPH1 BMPER COL7A1 WNT10A COL11A1 ARHGAP31 WASHC5 ODC1 SLC25A24 SMARCE1 EVC2 SMARCA4 NHP2 ATP6V1B2 TBX4 ELN CPT2 AFF4 SHOC2 MCTP2 EZH2 GJB6 PIGO PPM1D BAZ1B LIMK1 IHH FGFR2 PIGL SETD2 MBTPS2 PLAG1 NEPRO POP1 FTO CKAP2L SMARCC2 OFD1 ADAMTSL2 DHX37 SLC35D1 IGF2 LBR CDKN1C CWC27 GJB2 TBX3 STAMBP SMARCB1 DLK1 FGFR1 POC1A HP_HYPERCONVEX_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_NAIL CPLX1 RNU4ATAC TP63 FGFRL1 RPS6KA3 LETM1 POMP MBTPS2 PTDSS1 PLEC ARX NSD2 CTBP1 GJB6 ORC1 SETBP1 PIGV ECE1 HP_ANONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANONYCHIA GNAO1 BCR ROR2 WNT7A LAMB3 ITGB4 DLL4 COL17A1 COL7A1 RSPO4 NOG LAMC2 ZBTB20 SLC25A24 SLC25A22 JUP APC ARHGAP31 DSP LRP4 DOCK6 KCNA1 PIGP ARID1B GPC4 EOGT WNT10A ATP6V1B2 CASK NOTCH1 TRIM8 PIGQ PORCN RIPK4 ITGA6 SIK1 TP63 LMX1B CRKL TBC1D24 ARX RBPJ MMP1 SCN1B ARID1A GRHL2 STXBP1 LAMA3 NEUROD2 SCN2A KCNN3 COL2A1 KCNH1 MAPK1 LBR DMXL2 PLEC ACTG2 CDKL5 PNKP HP_SHORT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NAIL ZMPSTE24 IFT43 FLNB B3GALT6 IFT122 NPR2 NOTCH2 LMNA ATP6V0A2 HP_HYPOPLASTIC_TOENAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_TOENAILS KDM1A CLIP2 INPPL1 TELO2 TBL2 NSUN2 LMX1B PPP2R5D SOX4 DPH1 DLL4 HOXA13 DPF2 COL11A1 ODC1 SHANK3 ARID2 SMARCE1 NECTIN4 ARID1B HRAS SMARCA4 ATP6V1B2 EED TBX4 SUZ12 CPT2 AFF4 SHOC2 ARID1A EZH2 GJB6 LIG4 BAZ1B LIMK1 ELN SOX11 TBC1D24 NSD1 GTF2IRD1 GTF2I EVC2 EVC MSX1 SMARCD1 SMARCC2 SLC35D1 RIPK4 RFC2 GJB2 DYNC2LI1 TBX3 PPP1CB GLI1 SMARCB1 FGFR1 EOGT TCTN3 HP_ABSENT_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOENAIL BCR APC MAPK1 WNT7A LRP4 LBR CRKL COL7A1 GPC4 ATP6V1B2 ARID1A KCNH1 PORCN KCNN3 HP_NAIL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_PITS FOXN1 IKBKG TINF2 TP63 LPAR6 HLA-C MSX1 TERC TERT HP_HYPOPLASTIC_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FINGERNAIL ROR2 DLL4 HMGA2 RPS6KA3 CENPT SOX4 BMPER PTDSS1 COL11A1 PLEC WASHC5 DPF2 ARID2 SMARCE1 PIGN SHOX ARHGAP31 DOCK6 ARID1B SMARCA4 CCDC22 EOGT ATP6V1B2 NOTCH1 ARID1A GJB6 PLAGL1 SOX11 TBC1D24 RBPJ ZNF462 MBTPS2 PLAG1 MSX1 SMARCD1 HYMAI SMARCC2 KCNN3 IKBKG KCNH1 IGF2 COL11A2 LBR CDKN1C GJB2 TFAP2A SMARCB1 HP_ONYCHOGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS IKBKG INSR TP63 KRT6A LORICRIN KRT17 SLURP1 EGFR DVL1 GJB6 PLEC COL7A1 WNT5A KRT16 KRT14 KRT5 ADAM17 CTSC KRT6B FZD2 DVL3 ZSWIM6 FZD6 HP_ONYCHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOLYSIS UROD JUP IFIH1 KRT85 HFE ITGA3 CDSN WNT10A HLA-C GJB6 KRT74 CAST DSG1 FZD6 HP_RIDGED_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_NAIL FOXN1 GTF2H5 IKBKG LMX1B MPLKIP GTF2E2 ERCC3 RNF113A WNT10A FERMT1 TERC TINF2 KRT14 KRT5 ATR ATP2A2 LPAR6 SLC39A4 ERCC2 CTSK MSX1 DKC1 TARS1 EFNB1 TERT HP_FRAGILE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_NAILS GTF2H5 GJA1 LAMA3 DLX3 MPLKIP LAMC2 GTF2E2 LMNA ERCC3 RNF113A PRKD1 COL17A1 DSP AP1B1 SLURP1 GJB6 MSX1 COL7A1 ATP6V0A2 SIN3A HEPHL1 SMARCD2 ITGB4 ERCC2 FTL KRT14 TARS1 LAMB3 EFNB1 TRPS1 HRAS CAMK2G HP_SPLIT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_NAIL ERCC2 GTF2H5 DKC1 MPLKIP TARS1 EFNB1 GTF2E2 ERCC3 RNF113A HP_DYSTROPHIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_TOENAIL RUNX2 NECTIN1 SCN9A RAB7A ITGB4 KLHL24 WNK1 RETREG1 NOTCH1 COL7A1 IKBKG COL17A1 GJB2 ZMPSTE24 WNT10A SMARCE1 KRT14 KRT74 KIF1A TP63 GJB6 LMNA HP_HYPERCONVEX_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_FINGERNAILS PTDSS1 PLEC CPLX1 FGFRL1 NSD2 RPS6KA3 CTBP1 LETM1 TP63 MBTPS2 HP_DEEP_SET_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_SET_NAILS EED SUZ12 NSD1 HRAS EZH2 HP_THIN_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_NAIL ALOX12B NSD1 MBTPS2 WNT10A EED ANAPC1 SUZ12 TRPS1 IFT122 MSX1 EZH2 HRAS FZD6 ALOXE3 HP_ABSENT_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FINGERNAIL SIK1 GNAO1 BCR DLL4 CRKL ARX RBPJ TBC1D24 NOG SCN1B ARID1A STXBP1 NEUROD2 SCN2A SLC25A22 KCNN3 KCNH1 APC MAPK1 ARHGAP31 LRP4 DOCK6 KCNA1 DMXL2 PIGP COL7A1 EOGT ATP6V1B2 CASK CDKL5 NOTCH1 TRIM8 PIGQ PORCN PNKP HP_PARONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARONYCHIA ADAM17 KRT17 KIF1A KRT6B RETREG1 SLC39A4 STAT3 LAMC2 BLM LAMA3 KRT6A WNK1 LAMB3 SCN9A KRT16 HP_LEUKONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKONYCHIA GJA1 PLCD1 ABCA12 PEX1 PEX6 TRPS1 KIF11 DSP KANK2 CAST GJB2 HP_BROAD_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NAIL CLEC7A IFT43 IL17RC IHH FHL1 IL17F TRAF3IP2 IKBKG IL17RA HP_HALLUX_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALLUX_VALGUS CLIP2 CDKL5 ITCH TBL2 NUP107 SCARF2 AEBP1 SF3B4 DYRK1A BMPR1B NONO FGFR3 USP7 ZMIZ1 FGFR2 TWIST1 TCF12 PRDM5 ACVR1 USP9X MYH3 FHL1 ATP6V1B2 ELN MLXIPL TP63 B3GALT6 ZEB2 BAZ1B SLC29A3 LIMK1 PSMB8 ERMARD GBA CHST11 B3GAT3 BMP2 GTF2IRD1 CHST3 IL11RA GTF2I ZNF469 COL1A2 KCNN3 PTEN KCNH1 ERF RFC2 SLC16A2 HOXD13 YY1 ATL3 GDF5 SRY AKT1 RBBP8 HP_WEIGHT_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEIGHT_LOSS TP53 FOXP1 JAK2 PADI4 NPM1 UNC80 CDKN1A ZBTB16 HLA-DQB1 SUCLA2 SDHB SCNN1A TTR HLA-DRB1 BRCA1 PMS2 STAT3 STAT5B KRAS MAFB ATRIP BTNL2 DIS3L2 CEP152 VPS35 CCND1 EPAS1 THPO DNAJC13 SLX4 ABCC8 BCL10 ATR STAT4 POLG NALCN FUS FANCB STAT6 JPH3 B2M NOD2 HLA-DQA1 RBBP8 PDX1 TRIM28 FAN1 CDH23 IL23R PTPN22 COL6A3 GBA CDKN2A BMPR1A IL10 SDHAF2 FAS FH CENPJ PML PTEN FANCM HFE IL6 BCOR SRSF2 PALB2 MSH6 CALR RET TET2 PALLD IL12B VPS13A TGFB1 CRLF1 SCNN1G TBL1XR1 COL6A2 SDHD WT1 EPCAM ERCC4 KCNJ18 TYMP MLH3 LPIN2 DCTN1 CDKN1B TRIM37 ASXL1 FANCI GABRA3 TSHR RARA XRCC2 FLI1 CD244 NRTN SLC34A1 DAXX NDUFAF6 KCNJ11 SDHAF1 RAD51C UBAC2 SLC39A4 SDHA PRNP H19 REST COL12A1 KRT10 NBN TRIP13 GATA2 GCK KIF1B SLC25A11 AVP EIF4G1 FANCE IL12A SIGMAR1 POU6F2 NF1 ATRX EDN3 HLCS PLK4 NNT KDSR CYP24A1 GPC3 IL12A-AS1 MALT1 EWSR1 SCNN1B BRCA2 CENPE LRRK2 CBL C4A TRAIP SLC22A4 RAD51 MSH2 TRPV4 MC2R GALC IKZF1 ACAT1 MST1 MLX SLC6A8 HSPG2 CNTNAP1 NABP1 TGFBR2 STAR SLC2A3 MECP2 NDP F5 CUL4B EIF2AK3 CDC73 CDKN2C FANCD2 MPL RHBDF2 VHL BCL2 PSAP CCR1 ALS2 PIK3R1 BRIP1 SEMA3D ERCC2 KRT1 PCNT TMEM127 PRKAR1A CDKN2B SLC5A1 CFTR GDNF PANK2 SEMA3C MEN1 PRTN3 ZMPSTE24 SNCA ERCC3 LMNA NOS1 CACNA1S MLH1 GPR35 COL6A1 AKT1 GJB3 FANCF GNPTAB COL4A6 HTT PIK3CA ERAP1 GJA1 MAX TLR4 DNMT3A BTK LRP12 FOXP3 MDH2 GATM RNF168 HAVCR2 PMS1 HLA-DPA1 BCL6 SLC9A6 ACADM ERCC5 LIPA TXNRD2 RB1 PKHD1 EDNRB HMGCL AK2 NUMA1 FANCC RRM2B SLC11A1 COL4A5 INS SPG11 SDHC CTLA4 GJB4 RUNX1 HLA-B DLST MRAP MEFV GATA4 ECE1 FIP1L1 KLRC4 GIGYF2 FANCL RPS20 HLA-DPB1 UBE2T RFWD3 FANCG NAB2 FANCA CHEK2 ATP7B MAD2L2 ATM NFKBIL1 IFNGR1 SEMA4A BIRC3 SMAD4 EHHADH TCF4 IRF2BP2 CIITA HP_POSTAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_FOOT_POLYDACTYLY TMEM107 PRKACB EVC DYNC2I2 TMEM216 DYNC2H1 GLI3 CIBAR1 NEK1 PDE6D DDX59 INPP5E CD96 EXTL3 WDPCP TMEM231 IFT140 TMEM67 MKKS EVC2 RPGRIP1 MKS1 RPGRIP1L CSPP1 CEP55 PLAA SMOC1 C2CD3 CC2D2A BBS2 TCTN2 DYNC2LI1 BMP4 WDR19 IFT172 SC5D DHCR7 KIAA0825 HOXD13 B9D2 DYNC2I1 LBR SETD5 LMBR1 CEP290 CEP120 IFT80 NPHP3 KIF7 TTC21B B9D1 HP_SHORT_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_TOE ALOX12B FLNA LIG4 SALL4 TBX3 PUF60 CHSY1 NOG IL7R HOXA13 IFT122 SF3B4 COX4I1 BMPR1B KCNH1 ABCC9 GPC4 BPNT2 ALMS1 PIGV LETM1 MGP KMT2E DNMT3A HDAC4 MYT1L RMRP RAG1 GNAS PDE4D TRMT1 ACTL6B OFD1 FGFR1 FGFR2 ALOXE3 FBXW11 CPLX1 ADAMTS2 SVBP MED13 FIG4 CHST11 BMP2 NSD2 TRPV4 DHCR7 ASXL1 FGFR3 HOXD13 HBA2 ACTL6A KCNJ8 TANC2 GJA1 IL2RG HBA1 GRIP1 C12orf57 B3GLCT IHH GDF5 EOGT PRKAR1A GPC3 WASF1 DYRK1A ASAH1 CHD7 RAB3GAP2 DOCK3 DDX6 RLIM TNNT3 RAG2 CTBP1 BPTF SPECC1L SMAD4 ZMIZ1 KAT6A NELFA PHF6 ACVR1 RNU4ATAC SOX9 FGFRL1 FLI1 GHR GPX4 CTSK COL2A1 SHOX PSMD12 ADA BHLHA9 NOTCH2 VAC14 BCORL1 NTNG1 TCF20 KMT2A MYCN TBL1XR1 PTH1R WDFY3 TBX22 NPR2 TRAPPC4 DCLRE1C HP_ABNORMAL_METATARSAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METATARSAL_MORPHOLOGY FKTN WNT7A MYH8 LRP5 TCF4 POMK RSPRY1 PEX5 HOXA13 TRPS1 HSPG2 FBN2 PRMT7 SIL1 FLNB TRPV4 TNNI2 HDAC4 IFIH1 LETM1 GNAS SLC26A2 LMBR1 GDF5 MAPK1 LARGE1 VPS35L PDE4D COL4A1 RXYLT1 PORCN SMARCA2 LIG4 CPLX1 DYM FLNA GLI3 FGFR2 SKI FIG4 B3GAT3 FBLN1 PIGS NSD2 DHCR7 PTEN MEG3 RAB23 PEX2 PIEZO2 PRG4 RTL1 PTHLH ZBTB20 FIBP POMT1 CRPPA B3GALNT2 PEX1 RBPJ SRY EZH2 AKT1 PRKAR1A DDR2 HOXD13 B3GLCT NSUN2 FBN1 RAB3GAP2 CANT1 TNNT3 CTBP1 IHH ERCC6 FGFR1 ATRX SLC35A2 MAFB RIPK4 ACVR1 FGFRL1 KCNJ2 POMGNT1 MAP3K7 PEX7 TWIST1 COG4 WDR26 COL2A1 SHOX GUSB HINT1 MMP2 TGDS ABCC9 FAT4 POMT2 VAC14 B3GALT6 CHSY1 DAG1 CHST3 FKRP SALL1 ADAMTS10 SH3PXD2B DCHS1 NEK1 BMPR1B IFT52 FGF9 POMGNT2 INPP5K DHCR24 TUBB3 PHYH B4GAT1 NPR2 DLK1 TP63 RAB33B POC1A VPS13B UBE3B HP_LONG_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FOOT INSR SETD2 SIM1 UBE3B FOS PPARG NSD1 PACS1 CAV1 AIP PIGL UPF3B CAVIN1 MEN1 SUZ12 HERC1 RNU4ATAC BSCL2 PDGFRB POLR3A GPR101 FIBP ASNS NF1 AGPAT2 EED FLNA RPS6KA3 HP_CAMPTODACTYLY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAMPTODACTYLY_OF_TOE SCARF2 CHRNG FLNA MMP2 PPP2R5D FHL1 PIEZO2 FGFR3 PHF6 GLI3 BCOR HP_BROAD_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_TOE GJA5 GLI3 FGFR2 WNT5A IFT122 SF3B4 EP300 BMPR1B FLNA BCOR NAA10 ACAN KMT2E MEIS2 MYT1L SMC1A BPTF TBX1 GPC4 PDE4D UBE2A TRMT1 NOG ACTL6B CREBBP SUMF1 GJA8 FBXW11 SVBP PIGO MED13 CHST11 BMP2 PIGL ZEB2 HOXD13 ACTL6A TANC2 CCDC22 TBCK TWIST1 NPR2 KCNH1 GDF5 EFNB1 GATA6 FGF10 SATB2 DOCK3 TAF6 GPC3 DDX6 RLIM TNNT3 NKX2-5 PPP2R1A FGFR1 ZMIZ1 MED12 RHOA FGFR3 DLX5 DVL1 PYCR2 ADNP PSMD12 ABCC9 BCORL1 C2CD3 COL2A1 PUF60 WDPCP NTNG1 TCF20 EBP ROR2 NEK1 NKX2-6 FGF9 KIAA0753 WDFY3 TRAPPC4 HP_SPLIT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_FOOT DLX5 PORCN TP63 GLI3 FGFR2 WNT10B HP_METATARSUS_ADDUCTUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_ADDUCTUS CPLX1 MYH8 B3GALT6 NSUN2 RAB3GAP2 GLI3 SKI FIG4 B3GAT3 PEX5 CHST3 TNNT3 FBN2 NSD2 DHCR7 SH3PXD2B CTBP1 TRPV4 TNNI2 ATRX MEG3 SLC35A2 RAB23 PEX2 PIEZO2 FGFRL1 LETM1 SLC26A2 RTL1 ZBTB20 FIBP MAPK1 DHCR24 WDR26 GUSB TUBB3 PEX1 DLK1 EZH2 VAC14 DDR2 LIG4 UBE3B HP_PREAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_FOOT_POLYDACTYLY LMBR1 CPLX1 NEK1 ZSWIM6 FGFRL1 RAB23 LETM1 FGFR2 NSD2 CTBP1 GLI3 HOXD13 KIF7 MEGF8 CPLANE1 HP_FOOT_ACROOSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_ACROOSTEOLYSIS SCN9A NOTCH2 LMNA KIF1A RETREG1 ZMPSTE24 COL3A1 WNK1 HP_ABNORMALITY_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HALLUX CLIP2 SALL4 PUF60 GJA5 CHSY1 AEBP1 HOXA13 IFT122 SF3B4 MFN2 FGFR3 SUMF1 FLNA BCOR MGP NAA10 RAB23 USP9X MEIS2 MYH3 MYT1L BPTF TBX1 MLXIPL FIBP TRMT1 NOG ACTL6B CREBBP FGFR1 FGFR2 B3GALT6 GJA8 FBXW11 CPLX1 FAM20C GLI3 SLC29A3 PSMB8 MED13 HYLS1 GBA BMP2 GTF2IRD1 GTF2I NSD2 HOXD13 COL1A2 PTEN ACTL6A KCNJ8 TANC2 CCDC22 RFC2 NPR2 EP300 KCNH1 CDKL5 FGF10 TBL2 TBR1 NUP107 DOCK3 DDX6 TNNT3 PPP2R1A GCH1 ZMIZ1 MED12 NELFA ACVR1 DLX5 PTHLH PYCR2 ATP6V1B2 PTRH2 ACTB TP63 VAC14 C2CD3 LIMK1 COL2A1 SALL1 WDPCP NTNG1 TCF20 CHST3 ZNF469 KCNN3 CPLANE1 NEK1 PRKAR1A NKX2-6 LMBR1 KIAA0753 YY1 ATL3 KIF7 RBBP8 MEGF8 ITCH SCARF2 BMPR1B ABCC9 GPC4 TWIST1 PRDM5 LETM1 ACAN KMT2E NXN SMC1A PDE4D UBE2A SVBP ERMARD PIGO FIG4 CHST11 B3GAT3 ZEB2 CTCF ERF SOX5 SLC16A2 IHH GDF5 EFNB1 SRY AKT1 NONO GATA6 SATB2 ZSWIM6 CANT1 TAF6 RLIM HSPB8 NKX2-5 DYRK1A CTBP1 USP7 TCF12 DACT1 KAT6A ROR2 RHOA FGFRL1 FLI1 FHL1 GJA1 ELN ADNP PSMD12 BHLHA9 SMS BCORL1 BAZ1B GATA4 IL11RA EBP HSPB1 GNE FGF9 WDFY3 TRAPPC4 HP_OVERLAPPING_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_TOE TELO2 OTUD6B PCGF2 TMEM260 GLI3 SNRPN INTS1 RAB3GAP1 RSPRY1 HUWE1 CDC42 SF3B4 KIAA1109 ATN1 SMAD4 NEK9 TMEM94 USP9X TPM2 EXT2 MYOD1 BPTF PIEZO2 CPLX1 MAPK1 SLC35C1 RAB3GAP2 SOD1 CREBBP KAT8 MED25 DDX6 EP300 RTL1 PUF60 MEG3 DLK1 CCDC47 WIPI2 DHCR7 SLC6A9 SETBP1 ASXL1 UBE2A EBP THOC6 CCDC22 SOX5 HNRNPK INTS8 ARX GDF6 EZH2 TMCO1 RAB11B HP_LONG_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_HALLUX PRKAR1A FAM20C SOX5 GNE FLI1 NPR2 FIBP SCARF2 ZEB2 SMS KCNN3 KCNH1 HP_FOOT_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_OLIGODACTYLY APC WNT7A LRP4 DLX5 SMOC1 GLI3 DLL4 WNT10B SF3B4 PORCN HP_ABNORMALITY_OF_THE_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TARSAL_BONES LMBR1 CHRNG TNNI2 NOG ATP6AP2 PUF60 CHSY1 SMPD4 RSPRY1 SCYL2 MAP3K7 HDAC6 LMNA NALCN TPM2 FGFR3 MKKS MYBPC1 MMP2 FLNA GDF5 WNT7A COL1A2 KANSL1 MYH3 OFD1 SLC29A3 DYM PLAA KIF14 SAMD9 GLI3 EIF2AK3 NUP188 EBP FIG4 FBLN1 PTH1R ZEB2 TNNT3 ZC4H2 ARID1B FGFR2 MEG3 CUL7 POR MAGEL2 RTL1 FLNB CLTCL1 ERCC5 ADAMTSL1 PEX1 GDF6 ADAT3 EZH2 ERCC2 INPPL1 TELO2 SATB2 RBM10 MMP14 CANT1 HOXA13 PSAT1 GFM2 AEBP1 MATN3 ERCC6 FGFR1 NGLY1 OBSL1 DOK7 MAFB ATP7A MUSK GPX4 HADHB BMPR1B HOXD10 PHEX TOR1A SLC2A10 GLE1 NUP88 VAC14 RELN ZMPSTE24 COL2A1 SLC35D1 CCDC8 EXOC7 SYT1 EMG1 PHGDH ERCC1 MAF HADHA LBR COL11A2 SMOC1 ECEL1 TBX4 DLK1 WRN HP_SANDAL_GAP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SANDAL_GAP BCR IFT43 ATR LTBP4 NSUN2 SALL4 SLC26A2 PIEZO2 CANT1 PIK3CA COX7B IGF1R GALNT2 TNNT3 AEBP1 NBAS ALG12 KAT6A SETD5 CUL4B BCOR ROR2 RHOA DSP ATRIP NXN MEIS2 CEP152 BPTF EED ADNP SMARCE1 SUZ12 FBXO11 CREBBP MBD5 CILK1 BMP2 RAI1 EZH2 TBX4 SMOC1 SMARCA2 LIG4 EFNB1 PCNT RBBP8 FLNA EP300 CRKL NSD1 HERC2 B3GAT3 CHST3 CENPJ VPS13B COL1A2 CTCF PLK4 MAPK1 ESCO2 GMNN LBR IFT52 SMARCD2 TRIP12 CENPE DCPS IFT57 TRAIP FBXW11 MTX2 YY1 FLNB SVIL HP_SHORT_DISTAL_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_DISTAL_PHALANX_OF_TOE TRPV4 KCNH1 NOG FIG4 VAC14 HP_TOE_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_CLINODACTYLY FLNA DOCK3 ZNF41 DDX6 RLIM XYLT1 RSPRY1 PTCHD1 BPTF DMD UPF3B ZNF81 TSPAN7 RAB39B DACT1 GDI1 PAK3 KMT2E SLC9A7 KCNJ2 RNF6 FLI1 MYT1L USP9X FRMPD4 COG8 IQSEC2 PSMD12 SYP USP27X TRMT1 ARX MECP2 ACTL6B CXorf56 DLEC1 BCORL1 MID2 FBXW11 SVBP ARHGEF6 MED13 SALL1 RPS6KA3 NTNG1 TCF20 AGTR2 ZNF711 MED12 CKAP2L TGFBR2 ACSL4 ACTL6A TANC2 CNKSR2 IL1RAPL1 FTSJ1 ALG3 HCFC1 WDFY3 DLG3 PIGH ZMIZ1 TRAPPC4 CLCN4 SATB2 WWOX ALG13 HP_CLINODACTYLY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_5TH_TOE SALL1 KCNJ2 RNF6 PIGH CKAP2L TGFBR2 WWOX DLEC1 ALG3 HP_DEEP_PLANTAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PLANTAR_CREASES KCNJ8 KCNH1 PIGQ ATP6V0A2 HNRNPK PIGN MTOR TBL1XR1 CREBBP AIP ATP6V1B2 GPR101 ASXL1 EP300 ERCC6 ABCC9 KCNN3 HRAS HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES CR2 JAK2 NDUFA4 PROC GP1BA IL6R GGCX BRCA1 PMS2 F11 SPATA5 GLB1 BCL10 RAF1 PEX6 RPL18 KANSL1 RYR1 TGFBR1 STAT4 F8 PRF1 SLC25A10 ATRX SLC29A3 RPL15 IL23R CTRC CD3D PIEZO1 UBA1 CBS TGFB1 GSN SMAD3 JAGN1 IL18BP NDUFA12 EPHB2 VPS13A FIBP FUCA1 CAP2 STAT3 GLI1 GFI1B ABCB7 C2 FGG IL7R JAK3 MLH3 PALB2 SPTB BRCC3 IRAK4 NCF2 FAM111A SEC61A1 PEX5 KRT14 G6PC PEX26 UROD PIK3CA MYD88 LCK RARA GSR XRCC2 SOS1 GP1BB APP LIG4 LMX1B F10 KCNE5 PKLR LAMC2 NPHP1 GATC MYBPC3 XYLT2 HBG2 BRAF CALR SKIV2L IDH2 FHL2 FOXN1 FASLG NBN CFTR MET CLPB SLC20A2 ITGB3 DNASE1L3 KIF20A NPHP4 HLA-DRB1 SERPINF2 VWF UQCRFS1 NDUFS2 TGFB2 LARS2 EWSR1 DCLRE1C KRT1 BAP1 RAD51 ANKRD1 DKC1 STAT2 EPOR SPINK1 CIITA HMGCL MLX GCNT2 TNFRSF13C MAGT1 ENG TET2 TNNT2 VPS45 CISD2 ITGB4 MVK CBLIF NABP1 RBM8A TTC37 KIT COL4A1 HRG CFHR1 FANCD2 HBA1 PANK2 TSC2 SLC30A10 MT-TF RHOH PSAP RAG1 SERAC1 BUB3 GLA TMPO MSH2 MUC1 THPO IL36RN PFKM TNFRSF11A RB1 TACO1 CD4 DYNC2LI1 ITGA2B GATB BMPR1A PEPD PRKCSH HBB GTF2H5 RBM10 NSUN2 TICAM1 ERAP1 TCAP RNF43 NF2 XYLT1 TNNI3 COL7A1 F9 RPS27 LIPA SLC19A3 B4GALT1 NDUFB8 NSD1 EPB42 TTC7A SCARB2 NT5C3A NFKB2 STOX1 THSD1 NBAS IL2RG RUNX1 PRKAR1A BLNK MEFV HLA-B ACTC1 RIT1 NOP10 IREB2 RPS29 MCFD2 MTAP NRAS RPL5 DPAGT1 C1S MAD2L2 TEK COG8 STEAP3 CD79A ADA SPTA1 DLL4 NCF4 F13A1 VPS33B MMADHC LAMB3 HPGD SURF1 TMEM127 TERC CD19 HBG1 LDB3 RRAS2 KCNJ11 STAT1 FAS CARD9 UFD1 TCIRG1 AMMECR1 CP DIAPH1 COL4A2 SBDS TERT ANKRD11 GREM1 TNXB FAN1 TDP2 SDHAF2 HK1 RPL35A SCN10A PNPO MYORG ABCC2 HNF4A PDE4D NFKB1 SERPIND1 UBR1 SDHA ELN TMTC3 TP53 ANK1 RAG2 MECOM MT-TS2 SEMA3E TGFBR3 SAMD9L HAVCR2 F13B MAP2K2 HPS1 ADAR ATR PMM2 THBD CYBC1 PIK3CD CDKN1B IVNS1ABP ARPC1B GNAQ GATA1 NLRP3 RFX5 ACVRL1 APOB CD70 ABCD4 SSR4 BMPR2 EPO TTI2 RFT1 ASAH1 SARS2 COL1A1 SETD2 PDX1 VHL KLKB1 CYBB CYB5R3 STIM1 RIPK1 CD59 ALDOB LIPT1 IL12A-AS1 PLEKHM1 CBL MAP1B JMJD1C LPIN2 STN1 LPP IKZF1 TNNC1 RPL27 SAA1 SLC7A7 SGCD ADAMTS3 CD28 FANCA BAX RET CDKN2C WAS EXTL3 DNAJC19 MYC PLA2G4A DZIP1L RPL26 USB1 MMUT CD46 HPRT1 PSMB4 AK2 CLPX ARL6IP6 SGCG SLC17A5 FOXE3 ABCC6 RPS7 GDNF SH2D1A IFNG TGFB3 KIF11 MTX2 PIGM COX15 BLM TINF2 ERCC6L2 PHGDH ERMARD STS RNASEH2A SLC4A1 ISCU EFL1 GATA6 FECH COL4A5 FLI1 NUMA1 COG4 ADA2 TOR1A CPT2 HPS5 CYSLTR2 QRSL1 TALDO1 TAL1 FARS2 PLAU FIP1L1 RTEL1 MPL LAMTOR2 FANCL EVC2 NBEAL2 SMAD4 CA2 ATM NPC1 NDUFS4 ETV6 IFNGR1 FKBP14 RIN2 DGKE BIRC3 IVD UMPS ATP7A UNC119 SALL4 CASK GFI1 COL5A2 KRAS SLX4 KCNJ1 STAT5B TSR2 HSD17B10 SCN9A NCKAP1L CHST14 ARHGAP26 MT-ND1 SLC19A2 CYB5A CFI AGGF1 PRPS1 PRKACA B3GALT6 ALX4 PEX2 OCRL CYP2C9 TFRC BRIP1 PTPN22 TBC1D24 OTULIN CD81 GBA RPS19 SPARC MPDU1 SETBP1 PTEN TMEM67 COL1A2 HAX1 DHFR BCOR MT-CO1 LYST COL17A1 BLOC1S3 FANCC EVC SLC35A1 RPS14 MRPS7 ALAS2 GATAD1 ACVR1 PRSS1 LMNB2 DAXX G6PD KCNJ5 COL3A1 KLF1 TNFSF12 RMRP PHKG2 IL10RA REN SERPINC1 KCNQ1 NLRP1 KIF1B RASGRP1 IL12A ENPP1 ASXL1 UBE2A FCGR2B HLCS C4A SMARCAL1 CTC1 RNASEH2C PEX3 COL5A1 RPS28 DSG2 NDUFV1 FLT1 IFIH1 RECQL4 RFXAP TRAF7 MAT2A TBX1 SDHB FCGR2A C3 PGK1 BPGM NOTCH1 COQ2 EPAS1 F5 PRDM5 AIP KLF11 ALG8 COL14A1 NDUFAF3 SMPD1 ELANE MSH6 MT-CO3 FZD4 FGB SRP54 TREM2 HOXA11 AHCY PGM3 ATP6AP2 CTCF TRAF3 AASS HABP2 SUFU ORAI1 YARS2 ERCC4 APOA1 FGA PTPN11 CSF3R CD36 APC SLC2A1 ATP6V1A NDUFS7 NCF1 CXCR4 BTK HBA2 IL1RN HTRA2 FLNC CDC42 MLLT10 ALG12 FTCD F2 WRAP53 CD27 TBXA2R TRNT1 STT3B DPM2 JAK1 CD40LG KCNN4 CTLA4 SLC25A21 SDHC GALT LOX NDUFAF2 SLC12A3 TNFRSF13B BRD4 SLFN14 NDUFAF5 ACAD9 UBE2T HPS3 PHF21A C1R ATP6V1E1 ATP7B TNFRSF4 NDP TCF4 BLK UNC93B1 TMEM165 FOXP1 SLC37A4 WFS1 SLC27A4 CASP8 AEBP1 FANCF ACSL4 RASA2 ZNF341 COG6 CCND1 ACP2 WIPF1 PARN VPS33A PDGFRA FANCB THRA IL10 SRD5A3 MARS1 RHAG RREB1 PKHD1 DNMT3B DNAJC21 USP18 RAC2 CD79B RPL35 ITGB2 RPL31 HIRA TNFRSF1A CDAN1 GATA2 HPS6 CST3 LAMA4 BCL11B IDH1 BEST1 ATP6AP1 NTHL1 MYH6 SLCO2A1 FANCI DSE ABCC9 MLH1 LRP5 NSMCE3 GP9 PACS2 TBK1 CLCNKB CPOX KMT2D MT-TN NLRP12 BCR CTPS1 NEU1 CASP10 ABHD5 PRKACG P2RY12 AKR1D1 UROS NF1 TBX2 MT-TH NDUFS1 STX11 PLOD3 ABCA1 TMPRSS6 CLCN7 MDM2 NTRK1 CLDN1 IL7 SAMD9 GYPC SF3B1 ERCC3 SEC23B KRIT1 TGFBR2 LEP ATP11C GPC1 PEX19 PAX4 PCNT NUP214 NPM1 CYP11B1 DBH NDUFS3 IKZF5 LMBRD1 CD151 SLC25A38 MPI AMN FBXL4 PRLR ZMPSTE24 TBXAS1 PRDM16 GPX1 TCN2 HSPA9 EXT2 GPR35 GDF2 CLN3 CCM2 DNMT3A FOXP3 PMS1 BRCA2 FGF23 SAR1B PIGT C1GALT1C1 SREBF1 DOLK FAT4 RPS26 SH3GL1 NSMCE2 PLEC AGK RANBP2 PLOD1 OPA1 BMS1 IKBKG MSN RPS20 PTF1A STK11 ALPK1 SLC39A13 LZTR1 RFWD3 ERCC8 CAD SH2B3 STING1 PEX1 DLD FCGR2C PCCB PDCD10 MT-CO2 RBM20 ITK PTH1R NOD2 LCAT KDM6A PUF60 DMD NDUFA13 CDKN1A PROS1 LYRM7 PRKG1 LARS1 BCS1L TCF3 BTNL2 RPS17 MTOR MMACHC ACP5 EOGT GPI PDGFRB ZBTB24 NPC2 ALG6 SP110 ABL1 HBD FANCM NDE1 SLC25A13 TBL1XR1 GNB1 PHKA2 PDHA1 EPCAM FDX2 SFXN4 RNASEH2B TXNRD2 MPO MT-ND5 DNM2 CFH EPB41 ABCC8 MT-ND6 UBAC2 NHP2 APOE GLRX5 TREX1 LRRC8A KLHDC8B SHPK RPS15A AKT1 TUBB1 SLC25A11 NHLRC2 MT-TL1 CORIN POLG LBR FMO3 MALT1 GALC IRAK1 ITGA2 SNX10 NDUFA9 TNFRSF1B TNFSF11 CYP7B1 COX10 CEBPA F7 SLC46A1 SPINK5 CARD11 PUS1 ELMO2 DTNBP1 COMT MYPN INS RPS24 VKORC1 FUT8 HADH MADD CCR1 RPL11 TAF1A FYB1 TYROBP CAT PIGL NDUFAF6 CEL CYP11B2 SAMHD1 PEX10 FERMT3 RPS10 PRTN3 CAPN5 ERCC2 RFXANK XIAP PLN EGLN1 SIK3 CDIN1 NDUFV2 XK MMAA HLA-DPA1 FLNA CACNA1D LAT TAZ IGLL1 RRAS LACC1 DLST TLL1 A4GALT PLAT CD40 CD247 MT-TW ACTN1 SC5D EPG5 ATP6V0A2 PLVAP CSRP3 KNSTRN COA8 FANCG LMNA PEX11B DNM1L PICALM POMP RNF113A ERCC6 RPSA GCDH HPS4 MAPK1 ABCG8 FARSA GNAS ITCH OCLN CD55 DOCK8 TSC1 SRSF2 BACH2 MTHFR ATOH7 NR1H4 NLRC4 TYMP ALDOA USP8 HMCN1 PDGFB TBCE CD3E CYCS CACNA1S CYBA NAGS PNP PET100 FLT3 NUTM1 SCN11A CCBE1 PSMB9 KRT5 FANCE CYP4F22 ZNF469 ADAMTS13 NEUROD1 CASR MAX MT-CYB HSD3B7 HELLPAR CFHR3 SMO PPCS SDHD KIF23 CBFB TPP2 CYP4V2 SCN5A SERPINE1 HNF1A GINS1 MYSM1 ACTN4 SLC2A10 NFIX RHBDF2 AK1 ANO6 NOS3 MMAB PSTPIP1 AGXT MTFMT HYOU1 CD8A MT-TQ JAM2 ESCO2 FGFR2 IL2RA PEX16 CEP57 TPI1 NEDD4L TARS1 CDCA7 NEBL UNC13D MDH2 EP300 ZBTB20 ARVCF RNU4ATAC RINT1 ETHE1 LMAN1 RRM2B CRYAB DOCK2 KCNE1 TF KLRC4 WARS2 MCM4 WDR19 SEMA4A DNASE1 IRF2BP2 DPM1 ICOS ZAP70 GCLC DDX41 BUB1B PSEN2 SLC25A15 ARFGEF2 SMARCE1 FARSB HAND2 SLC35C1 ARHGEF1 RAB27A SEC24C ADAMTS2 RBPJ PTPRC PSMB8 CYP26C1 PML EPHB4 COX4I2 MTR PRKCD IL12B SMARCD2 CHIC2 ALG2 MYH7 SRP72 AGA SMARCB1 FBN1 MYLK SOS2 ALAD CHD7 STXBP2 IGHM GSS NGLY1 PEX13 ARHGAP31 CTSK APPL1 MFAP5 XRCC4 MS4A1 FAH ANKRD26 SLC40A1 MPLKIP CAPN3 NOTCH3 MRAS AMACR XPR1 CRIPT CYP2A6 PEX14 ZCCHC8 GCK MTHFD1 TP63 MAP2K1 CDKN2A NAXD EIF2AK3 ECHS1 BAG3 FOXRED1 MTRR CPA1 BCL2 TTN CITED2 IL6ST BLOC1S6 CDKN2B PIGA VCL ZEB2 OSTM1 RS1 RASGRP2 ANGPTL6 POT1 POLE LAMA3 TLR3 ACD STXBP1 MYH9 TNFAIP3 SLC11A2 MAN2B1 CD109 DDOST TFAM ACAD8 SRC MMP1 TRAC TPM1 TRIP13 COG1 MT-ND4 AAGAB TRMU PLG PDE11A PEX12 WT1 GNE NDUFA2 PPOX STK4 MGAT2 ZBTB16 TONSL SPP1 PIK3R1 ACTN2 AP3D1 KIF15 ACTA2 TKFC CEBPE PRSS2 NDUFA10 SGPL1 BUB1 B2M GTF2E2 ARF1 FH VPS13B ABCD3 NHEJ1 MYH11 ERBB3 MTTP F12 COLGALT1 IFT140 A2ML1 DES FKTN CORO1A HMOX1 CFB RAD51C TPMT MPIG6B CTNNB1 ANAPC1 PGM1 NDUFS8 HAMP PCCA IRX5 PRDX1 ALPL ACAT1 MST1 GUCY1A1 NIPBL FN1 RASA1 IL2RB FADD DGUOK ERF COPA GNA14 APC2 AP3B1 SLC4A4 WDR1 MEN1 CD3G LRBA PSEN1 ABCB6 MDM4 FERMT1 CUBN TLR4 ARMC5 GALNT2 RNF168 BCL6 CDH23 DOCK6 G6PC3 CREBBP CHEK2 SEC63 TAL2 HLA-DPB1 NEXN GP6 GNA11 LEPR FIG4 TFR2 HELLS SCO2 HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY LYST ZAP70 RNASEH2B STAT1 KDM6A CR2 JAK2 SALL4 IFIH1 CD46 GP1BA FANCE TBX1 TINF2 BRCA1 KCNJ1 CTLA4 STAT5B TTC37 TSR2 FLI1 RAG2 SCN9A SPATA5 SAMHD1 PTPN22 BTNL2 RTEL1 MTOR MMACHC ACP5 EOGT SLC19A2 NOTCH1 CFI ARHGEF1 LIG4 PRF1 OCRL SEC24C TFRC ATRX RBPJ TP53 PSMB8 SP110 TBC1D24 CD81 GBA RPS19 UBA1 PML TGFB1 FANCM ADA2 DHFR BCOR FANCB PRKCD BLOC1S3 EPHB2 FANCC SLC35A1 SMARCD2 RPS14 TBL1XR1 PDGFB GFI1B SOS2 SLC7A7 MECOM IL7R STXBP2 VWF RARA XRCC2 SOS1 GP1BB CFH ITGB3 ARHGAP31 TNFSF12 NHP2 APOE BRAF CALR GATA1 SKIV2L ABL1 FASLG NBN MS4A1 ANKRD26 SLC20A2 KRAS RASGRP1 HBB TUBB1 HLA-DRB1 UQCRFS1 CORIN ENPP1 FCGR2B HLCS SMARCAL1 CTC1 NFKB1 RNASEH2C LARS2 GALC DCLRE1C IRAK1 MRAS ITGA2 RPS15A XPR1 RAD51 TET2 FLT1 DKC1 TNFSF11 STAT2 TREX1 MTHFD1 NOP10 RFXAP TNFRSF13C MAGT1 VPS45 FCGR2A SLC46A1 C3 MAP2K1 TERC NABP1 RBM8A WIPF1 DTNBP1 CFHR1 FANCD2 COMT ALG8 MADD RPL11 MPL STAT3 FYB1 PRKAR1A PSAP RAG1 STIM1 BLOC1S6 ELANE THPO SRP54 PHGDH SC5D HOXA11 OSTM1 FERMT3 TNFRSF11A RPS10 RASGRP2 WAS ITGA2B TERT ORAI1 ERCC4 ACD RFXANK CA2 XIAP PEPD CISD2 MYH9 CD36 TNFAIP3 SNX10 NSUN2 NPM1 MMAA CD109 BTK FAS CDC42 RPS24 PDGFRB RNASEH2A RPS28 TBXA2R LAT SCARB2 STT3B NFKB2 STOX1 CD40LG SRC RPL18 RRAS LACC1 HLA-B TNFRSF13B RIT1 SLFN14 ACTN1 COG1 ACAD9 UBE2T SH2B3 HPS3 RPL5 ATP7B MAD2L2 ADA NBEAL2 FOXP3 FANCG TMEM165 BCR SMPD1 WFS1 SBDS POMP ZBTB16 RUNX1 SPP1 TALDO1 FANCF RRAS2 NRAS RASA2 RPSA COG6 FLNA UFD1 HPS4 KIF15 SLX4 PARN VPS33A DIAPH1 ABCG8 ANKRD11 OCLN CD55 SCN10A GP9 MYORG RREB1 PKHD1 DNAJC21 USP18 RPL35 RPL15 NHEJ1 PALB2 RPL31 HIRA ERBB3 HPS6 SAMD9L NLRC4 ASAH1 ADAR PMM2 THBD ARPC1B IFNG A2ML1 FANCI CASP10 RAF1 NLRP3 RFX5 RPL26 CYCS LBR PTPN11 KMT2D CFB RAD51C TCN2 ABCD4 PNP SCN11A CIITA MPIG6B PRKACG P2RY12 SARS2 GATA2 EFL1 UROS PSMB9 SF3B1 ADAMTS13 STAT4 STX11 ABCA1 WRAP53 PCCA CLCN7 JMJD1C CBL HELLPAR PRDX1 CFHR3 IKZF1 RPL27 SAMD9 ACAT1 DLL4 MMUT GUCY1A1 NIPBL TPP2 FANCA MYSM1 RPS17 PLA2G4A DZIP1L BRIP1 NOS3 DGUOK USB1 MMAB GNA14 PSTPIP1 PSMB4 MVK IKZF5 LMBRD1 HYOU1 AP3B1 RPL35A JAM2 WDR1 ABCC6 ESCO2 RPS7 LRBA SH2D1A TBXAS1 ERCC6L2 ARVCF BRCA2 DOCK6 G6PC3 COL4A5 RPS26 HMGCL NUMA1 AGK COG4 HPS5 RPS29 FARS2 GNAS PLAU FIP1L1 FANCL WARS2 LZTR1 RFWD3 STING1 CD19 RPS27 ETV6 IFNGR1 DGKE FCGR2C DNASE1 PCCB IVD IRF2BP2 ITK ICOS HP_ABNORMALITY_OF_NEUTROPHILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHILS LYST UNC93B1 STAT1 GFI1 SRP54 SLC37A4 NPM1 SBDS STK4 DMD FANCE RNF113A CXCR4 TERC ZBTB16 PSEN2 LAMTOR2 TONSL CD79A RMRP LDB3 STAT5B FANCI TSR2 FAS TCF3 PIK3R1 STAT3 RPS17 ACTN2 RTEL1 MMACHC HAND2 ACP5 AP3D1 GPI SLC35C1 ICOS RAF1 RPL18 CEBPE RAB27A ZBTB24 LIG4 TERT PGM3 ITCH TFRC ATRX GTF2E2 TDP2 OTULIN NCF2 RPS19 PML ADA2 JAGN1 VPS13B HAX1 DNMT3B DNAJC21 BCOR RAC2 DOLK CD79B RPL35 RPL15 PRKCD SDHA FANCC SLC35A1 SMARCD2 RPL31 FIBP RPS14 CAP2 TBL1XR1 MYH7 AGA IGHM LAMA4 FDX2 MECOM IL7R TXNRD2 CYBC1 IRAK4 SEC61A1 MYH6 GSS ABCC9 RARA CASP10 DES GATAD1 GATA1 NLRP3 RFX5 PACS2 FKTN TBK1 RPL26 LBR CYBA TCN2 ABCD4 COG4 MYBPC3 TNNI3 PNP MYPN NCF1 CIITA FHL2 FASLG LRRC8A CLPB MPLKIP ANAPC1 GATA2 EFL1 KRAS RASGRP1 SF3B1 TET2 CYBB UBE2A STX11 SMARCAL1 CTC1 FMO3 WRAP53 RPS7 PCCA RAG1 NHP2 MYH9 RPS15A DSG2 ANKRD1 PRDX1 DKC1 IKZF1 TNNC1 PPCS RPL27 SAMD9 RECQL4 RFXAP SGCD MMUT VPS45 SLC46A1 ERCC3 FANCA MVK MEFV SCN5A NABP1 WAS PMM2 WIPF1 EIF2AK3 RFXANK GINS1 BAG3 MYSM1 FUT8 MTRR USB1 RPL11 TTN TAF1A BLNK NRAS PRKAR1A MMAB ELANE VCL TMPO SAMD9L LMBRD1 AP3B1 IL36RN RPL35A TRAF3 RPS10 WDR1 FBXL4 LRBA PARN SH2D1A IFNG PRDM16 TLR3 ERCC2 PSEN1 XIAP TAZ TARS1 MDM4 CSF3R PLN CDCA7 GTF2H5 TINF2 NSUN2 TICAM1 MMAA NEBL TCAP BTK FOXP3 IL1RN HTRA2 RPS24 FTCD G6PC3 RPS26 RPS28 AK2 NUMA1 CRYAB IGLL1 CD40LG RPS29 HLA-B MYD88 TNNT2 FIP1L1 CD40 ACTC1 FANCD2 MSN TPM1 NOP10 NEXN RPL5 MAD2L2 PRF1 CSRP3 RPS27 ETV6 PCCB NCF4 IRF2BP2 TFR2 TCIRG1 RBM20 FANCG HELLS HP_PANCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCYTOPENIA SRP54 ITCH MTHFD1 RECQL4 NOP10 NPM1 RFXAP SBDS TET2 GFI1 FANCE TERC ZBTB16 FANCA GBA IFNG COQ2 NABP1 SLX4 HLA-DRB1 FARSB NAXD STAT5B COG6 STAT3 MTRR TERT RAB27A NRAS PRF1 GNAS PRKAR1A MMAB SP110 PSTPIP1 PIGA TINF2 DNAJC21 PML SAMD9L SLC46A1 LMBRD1 OSTM1 DHFR BCOR SRSF2 LRBA CALR BACH2 MPL FANCC XIAP SH2D1A IKZF1 LIG4 MRPS7 TCN2 JAK2 TBL1XR1 RFXANK GATA2 UBE2T HAVCR2 SRP72 NLRC4 HOXA11 MAN2B1 NBN ATR PALB2 LYST MMAA ASXL1 ACD RARA TCIRG1 EFL1 RFX5 NHP2 WRAP53 CD27 RAC2 RNASEH2A ACP5 NUMA1 ADA2 TALDO1 RUNX1 CIITA XRCC4 FIP1L1 ANAPC1 KRAS FANCD2 ALPK1 SF3B1 SCARB2 ELANE TNFRSF4 PCCA CBL PCCB DKC1 IVD STN1 IRF2BP2 TNFSF11 ITK SAMD9 HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY LYST NOD2 LCAT KDM6A CR2 NDUFA4 NDUFA13 GP1BA JAK2 RMRP TINF2 LYRM7 BRCA1 LARS1 CTLA4 ATP7B RAG2 BTNL2 RPS17 RTEL1 MMACHC GPI BCL10 RPL18 ZBTB24 LIG4 PRF1 SLC25A10 ATRX SLC29A3 RPL15 SP110 PIEZO1 UBA1 TGFB1 HBD FANCM ADA2 SLC25A13 RPS14 NDUFA12 RPS26 VPS13A TBL1XR1 PHKA2 ABCB7 PDHA1 FDX2 SFXN4 MECOM SPTB MT-ND5 SLC19A2 FAM111A SEC61A1 UROD RARA GSR XRCC2 CFH EPB41 ABCC8 ITGB3 KCNE5 PKLR MT-ND6 TBXAS1 LAMC2 NPHP1 GATC HBG2 GLRX5 GATA1 FASLG NBN SHPK RPS15A NHLRC2 NPHP4 HLA-DRB1 CLCN7 MT-TL1 UQCRFS1 NDUFS2 POLG STEAP3 FMO3 LARS2 MALT1 EWSR1 DCLRE1C IRAK1 SNX10 NDUFA9 RAD51 DKC1 TNFSF11 STAT2 EPOR COX10 HMGCL MLX GCNT2 TNFRSF13C ENG TET2 VPS45 SLC46A1 CISD2 ITGB4 CBLIF TREX1 PUS1 NABP1 ELMO2 WIPF1 COL4A1 CFHR1 FANCD2 HBA1 INS RPS24 PANK2 MADD RPL11 RPS19 SLC30A10 MT-TF PRKAR1A PSAP RAG1 CAT GLA SMAD4 MUC1 NDUFAF6 CEL PFKM FERMT3 TNFRSF11A RPS10 TACO1 HBB SLC4A1 ITGA2B GATB BMPR1A ERCC2 GBA RFXANK PEPD EGLN1 CDIN1 GTF2H5 NDUFV2 NSUN2 AMMECR1 XK MMAA COL7A1 RPS27 SLC19A3 NDUFB8 ANK1 EPB42 RPS28 LAT TTC7A FANCC NT5C3A NFKB2 RUNX1 HLA-B A4GALT TRNT1 CD247 MT-TW ACTN1 NOP10 IREB2 RPS29 SC5D RPL5 SCARB2 MAD2L2 FECH ADA SPTA1 STIM1 COA8 FANCG KIT STK11 LAMB3 DNM1L SBDS HPGD SURF1 IL7R RNF113A TERC HBG1 KCNJ11 STAT1 RPSA FAS STAT3 TCIRG1 CP SLX4 ERCC6 ABCG8 TERT FARSA ANKRD11 GREM1 PGM3 TNFSF12 HK1 CD55 RPL35A VHL PNPO HNF4A NFKB1 SRSF2 UBR1 PALB2 SLC2A1 MT-TS2 SAMD9L HAVCR2 NLRC4 TYMP GALT LPIN2 THBD ALDOA ASXL1 FLI1 NLRP3 RFX5 TBCE ACVRL1 APOB ABCD4 PNP EPO SARS2 EFL1 PDX1 PSMB9 RHAG FANCE CYP4F22 CYB5R3 ADAMTS13 NEUROD1 STAT4 CASR RIPK1 CD59 LIPT1 PGK1 PLEKHM1 CBL HELLPAR CFHR3 IKZF1 RPL27 SLC7A7 KIF23 MMUT TPP2 FANCA F8 HNF1A WAS MYSM1 ACTN4 DNAJC19 AK1 PLA2G4A RPL26 USB1 ABCA1 MMAB CD46 HPRT1 PSTPIP1 PSMB4 AGXT MTFMT CLPX HYOU1 MT-TQ RPS7 IL2RA IFNG MTX2 TPI1 TARS1 COX15 FANCF CDCA7 ERCC6L2 PHGDH UNC13D ISCU ZBTB20 SH2B3 LIPA NUMA1 TOR1A RRM2B QRSL1 TALDO1 FARS2 KCNE1 FIP1L1 TF FANCL WFS1 CA2 CD19 NDUFS4 ETV6 IFNGR1 DGKE BIRC3 DNASE1 UMPS IRF2BP2 PDGFRA RBM8A ALAS2 ICOS ZAP70 GCLC CASK DDX41 FARSB STAT5B TSR2 PTPN22 MT-ND1 SLC35C1 CYB5A CFI HBA2 AGGF1 PRPS1 ALX4 OCRL TFRC PSMB8 CD81 PET100 SMPD1 PML TMEM67 EPHB4 DHFR COX4I2 BCOR FANCB MTR MT-CO1 PRKCD COL17A1 IL12B SMARCD2 ALAD CHD7 STXBP2 GSS ACVR1 DAXX G6PD KLF1 CTSK COL3A1 PHKG2 REN KCNQ1 APPL1 MS4A1 NLRP1 SLC40A1 MPLKIP KIF1B KRAS RASGRP1 FCGR2B MEFV SMARCAL1 CTC1 CRIPT NDUFV1 GCK MTHFD1 RECQL4 RFXAP FCGR2A C3 BPGM COQ2 EPAS1 ECHS1 FOXRED1 KLF11 MTRR ALG8 SDHB TP53 NDUFAF3 ELANE PIGA MT-CO3 SRP54 OSTM1 AASS LAMA3 ORAI1 YARS2 ERCC4 ACD APOA1 TNFAIP3 SLC11A2 NPM1 NDUFS7 BTK FTCD F2 ACP5 ACAD8 CD40LG SDHA KCNN4 SLC25A21 NDUFAF2 SLC12A3 MMP1 TNFRSF13B NDUFAF5 SDHC COG1 UBE2T RAC2 PHF21A MT-ND4 TNFRSF4 PTEN WT1 BLK FOXP3 NDUFA2 PPOX FOXP1 APC ZBTB16 SPP1 ACSL4 CCND1 KIF15 PARN VPS33A TKFC NDUFA10 THRA GTF2E2 SRD5A3 MARS1 DNMT3B DNAJC21 ABCD3 RPL35 NHEJ1 CALR IL2RG RPL31 ERBB3 CDAN1 MTTP IFT140 ASAH1 IDH1 SLCO2A1 FANCI CASP10 PACS2 CLCNKB CPOX HMOX1 KMT2D CFB RAD51C MT-TN CIITA MPIG6B PRKACG ANAPC1 UROS SF3B1 CYBC1 NDUFS8 MT-TH NDUFS1 HAMP STX11 WRAP53 PCCA TMPRSS6 NTRK1 NHP2 IRX5 PRDX1 SAMD9 ALPL GYPC ERCC3 SEC23B IL2RB ATP11C PAX4 PCNT BRIP1 FADD NRAS ERF DBH NDUFS3 GNA14 MVK LMBRD1 CD151 SLC25A38 AMN CD3G LRBA GPX1 TCN2 HSPA9 ABCB6 EXT2 GDF2 MDM4 FERMT1 KRT14 CUBN GALNT2 FH XRCC4 MMADHC ADAR BRCA2 FGF23 SAR1B PIGT C1GALT1C1 G6PC3 NSMCE2 AK2 PLEC MPL OPA1 MYD88 TEK PTF1A RFWD3 ERCC8 CAD STING1 PCCB IDH2 TFR2 MT-CO2 HELLS SCO2 ITK PTH1R HP_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_ANEMIA ANK1 ZAP70 LCAT STAT1 KDM6A CR2 GCLC GYPC RFXAP CASK TNFRSF13C NBN CD46 FCGR2A GP1BA TPP2 C3 SPP1 PGK1 BPGM TREX1 HBA1 SPTB WIPF1 CTLA4 IL2RB SPTA1 EPB42 ATP7B RAG2 FAS COL4A1 PTPN22 CFHR1 BTNL2 ATP11C HBB WAS SLC4A1 RASGRP1 GPI AK1 ABCG8 CFI STAT3 HBA2 NRAS PGM3 UROS STIM1 TNFSF12 PIGA CD81 PIEZO1 HK1 PNP RHAG PFKM PKLR CD3G RAG1 NFKB1 PRKCD LRBA IL2RA GPX1 ABCB6 RFXANK TTC7A TPI1 CFH GALT ALAD TNFAIP3 THBD SLC2A1 ALDOA GSS UROD FOXP3 GSR CASP10 ADAR EPB41 GATA1 RFX5 FECH PIGT CPOX HMOX1 ACP5 G6PD LAT KMT2D CFB NT5C3A NFKB2 CD40LG KCNN4 CIITA FASLG MS4A1 NLRP1 CD247 TNFRSF13B KRAS NHLRC2 HLA-DRB1 CYBC1 ADAMTS13 FCGR2B STAT4 CD59 TNFRSF4 IRAK1 CD19 DGKE ADA HELLPAR DNASE1 CFHR3 ITK ICOS HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY ZAP70 CHD7 BCL11B SRP54 IL7R LIG4 ELANE ASXL1 SLC27A4 GFI1 FAS RAG2 SPINK5 CASP10 CARD11 NLRP3 WIPF1 TET2 EXTL3 RNU4ATAC ZNF341 SREBF1 CARD9 CD3E BTNL2 STAT3 WAS RAG1 SRSF2 RMRP DOCK8 PDGFRA JAK1 ADA PDGFRB RUNX1 FASLG PGM3 IKBKG IL6ST NLRP1 CD247 RASGRP1 CD3D HLA-DRB1 TRAC SLC46A1 CAPN3 PRKCD IL2RG DCLRE1C CBL KIT TCIRG1 FOXP3 RBM8A HP_LEUKOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOPENIA LYST ZAP70 STAT1 CR2 SRP54 NPM1 CD3E DDX41 STK4 GFI1 CXCR4 ZBTB16 IL2RG SPP1 JAK3 FANCF BRCA1 CTLA4 STAT5B TTC37 EXTL3 TSR2 RAG2 FAS PTPN22 BTNL2 STAT3 SBDS ACP5 EOGT WIPF1 SLX4 VPS33A ICOS NOTCH1 SGPL1 RAG1 TERT ZBTB24 FANCB PIK3CD PRF1 PGM3 TCF3 RBPJ PTPRC TNFSF12 SP110 TINF2 CD3D CD81 RPL35A DOCK8 PML FANCM ADA2 DNMT3B BCOR SRSF2 RPL35 RPL15 NHEJ1 PRKCD PALB2 TET2 RPL31 FOXN1 TGFB1 RRAS2 RPS14 TBL1XR1 SEMA3E IGHM IL7R SLC7A7 BCL11B IVNS1ABP ATP6AP1 ASXL1 FANCI LCK RARA CASP10 XRCC2 NSMCE3 GATA1 RFX5 RPL26 CORO1A CHD7 ARHGAP31 RAD51C TCN2 PNP SKIV2L CTPS1 TTI2 CIITA MS4A1 SARS2 CCBE1 RASGRP1 PSMB9 HLA-DRB1 FANCE CYBC1 FCGR2B STAT4 SMARCAL1 NFKB1 DCLRE1C IRAK1 RAC2 CBL RPS15A RAD51 IL7 FASLG VPS13B RPL27 MTHFD1 DLL4 RFXAP TNFRSF13C MAGT1 NBN ADAMTS3 VPS45 FCGR2A SLC46A1 ATM TPP2 GBA TREX1 NABP1 LEP FANCD2 WAS MYSM1 RMRP RPS17 RPL11 RPS19 BRIP1 ADA PRKAR1A SAMD9 BLOC1S6 MYC PSMB4 MYD88 AK2 CD247 CD8A DNAJC21 RPS10 WDR1 CD3G RPS7 LRBA IL2RA IKZF1 TBXAS1 ERCC4 RFXANK MDM4 MMUT CDCA7 TNFAIP3 ELANE ERCC6L2 XRCC4 TERC EFL1 PTEN RPS24 BRCA2 DOCK6 FAT4 G6PC3 RPS26 RPS28 HMGCL NUMA1 FANCC PIK3R1 NFKB2 RPS29 RPL18 DOCK2 GATA2 RUNX1 FIP1L1 TRNT1 RTEL1 TNFRSF13B MSN FANCL UBE2T EPG5 RFWD3 RPL5 FANCG SCARB2 STING1 FANCA MAD2L2 LEPR CD19 RPS27 KNSTRN DNASE1 DKC1 IVD IRF2BP2 TFR2 TCIRG1 HELLS ITK UNC119 HP_TALIPES_CALCANEOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_CALCANEOVALGUS PLA2G6 VPS33B ATRX CHRNG DHCR7 VIPAS39 ERMARD SPECC1L PMP22 HP_LYMPHOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOPENIA ZAP70 STAT1 CR2 SRP54 MTHFD1 RFXAP CD3E STK4 TNFRSF13C MAGT1 NBN ADAMTS3 GFI1 ATM CXCR4 TPP2 IL2RG SPP1 JAK3 WIPF1 CTLA4 TTC37 EXTL3 LEP RAG2 FAS WAS MYSM1 RMRP ACP5 ICOS SGPL1 ADA RAG1 TERT ZBTB24 PIK3CD PGM3 SAMD9 TCF3 PTPRC TNFSF12 SP110 MYC CD3D CD81 PSMB4 MYD88 AK2 PNP DOCK8 CD247 CD8A DNMT3B WDR1 CD3G NHEJ1 PRKCD LRBA IL2RA IKZF1 FOXN1 RRAS2 RFXANK SEMA3E IGHM MDM4 IL7R CDCA7 BCL11B TNFAIP3 ELANE IVNS1ABP XRCC4 LCK TERC CASP10 PTEN NSMCE3 RFX5 CORO1A CHD7 FAT4 RAC2 G6PC3 TCN2 ADA2 PIK3R1 NFKB2 SKIV2L DOCK2 CTPS1 GATA2 TTI2 CIITA MS4A1 TRNT1 CCBE1 TNFRSF13B RASGRP1 PSMB9 MSN CYBC1 TINF2 EPG5 STAT4 STING1 SMARCAL1 NFKB1 DCLRE1C IRAK1 LEPR CD19 KNSTRN TFR2 TCIRG1 IL7 HELLS ITK FASLG UNC119 HP_MEGALOBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOBLASTIC_ANEMIA CUBN MTR MTHFD1 SLC19A2 WFS1 MMACHC UMPS HPRT1 PHGDH SLC46A1 LMBRD1 MTRR MMADHC CBLIF PRDX1 FTCD AMN DHFR HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA FASLG ZAP70 NBN STAT1 RFXAP NLRP1 STIM1 CD247 RASGRP1 TPP2 FAS FOXP3 PNP PRKCD CASP10 RFX5 CTLA4 IL2RB CD3G RAG1 RAG2 LRBA ACP5 TTC7A ADA RFXANK STAT3 ITK CIITA HP_IRON_DEFICIENCY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_DEFICIENCY_ANEMIA KCNE1 KCNQ1 FASLG ABCD3 ALAS2 CLCNKB STK11 DAXX APC WAS SLC12A3 MMP1 HBB GALNT2 FAS CD55 FOXP3 CLPX COL7A1 PLA2G4A ATRX FGF23 CASP10 HP_ABNORMAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLEEDING LYST CR2 JAK2 PROC PUF60 CDKN1A CD46 GP1BA COL5A2 FANCE ATP7A TBX1 ARFGEF2 SMARCE1 SMAD4 PROS1 GGCX PRKG1 PMS2 F11 STAT5B KRAS FLI1 GNAQ CHST14 VHL APP MMACHC ACP5 EOGT ABCC6 COL1A2 COL1A1 NOTCH1 KANSL1 RAB27A TGFBR1 AGGF1 STAT4 F8 PDCD10 PRKACA B3GALT6 SEC24C ADAMTS2 CFI ATRX RBPJ TP53 IL23R SP110 PTPN22 CD81 GBA CYP26C1 NEU1 SPARC PML TSC2 CBS FGG PTEN GSN SMAD3 NDE1 SLC25A13 ENG HBA2 IL18BP BCOR PRKCD MSH6 BLOC1S3 EPHB2 FANCC SLC35A1 RPS14 TBL1XR1 PDGFB GFI1B SMARCB1 FBN1 MYLK EPCAM C2 SOS2 MLH3 SLC7A7 BRCC3 KRT14 G6PC VWF DNM2 RARA SOS1 GP1BB CFH COL4A1 PLEC LMX1B ITGB3 ARHGAP31 F10 DAXX KCNJ5 COL3A1 TNFSF12 UBAC2 IL10RA XYLT2 BRAF GATA1 TREX1 KIF1B FGA MFAP5 F5 MS4A1 FAH ANKRD26 SLC20A2 AKT1 KRT5 RASGRP1 SLC25A11 SERPINF2 IL12A ENPP1 C4A NOTCH3 TGFB2 NFKB1 COL5A1 MRAS ITGA2 KRT1 SNX10 BAP1 XPR1 TET2 STAT2 EPOR CYP7B1 BMPR1A TRAF7 F7 TNFRSF13C MAT2A SDHB CISD2 MAP2K1 GDF2 NABP1 PMM2 ELMO2 WIPF1 PRDM5 DTNBP1 CFHR1 COMT AIP CCR1 DOCK8 MPL F13A1 FYB1 PRKAR1A USP8 CDKN2B PIGA MYC AKR1D1 CAT FZD4 FGB ZEB2 CYP11B2 CTCF FERMT3 RB1 RS1 RASGRP2 PRTN3 ANGPTL6 ETHE1 SUFU HBA1 WAS CAPN5 ITGA2B TERT ORAI1 STXBP1 APOE PEPD PRKCSH MYH9 HOXA11 SIK3 F2 CD36 APC ATP6V1A ERAP1 MAX CD109 NF2 XYLT1 F9 AEBP1 RET ERCC8 SDHD HLA-DPA1 PDGFRB FLNA CACNA1D TBXA2R TTC7A TNFRSF1A NFKB2 SDHC THSD1 SRC RRAS CTLA4 HLA-B DLST LBR TGFB3 MEFV LOX VKORC1 SLC39A13 TNFRSF13B RIT1 SLFN14 ACTN1 MCFD2 MTAP HPS3 SCARB2 SDHA C1R C1S ATP6V1E1 ATP6V0A2 ATP7B PLVAP PRF1 TEK COG8 PDE11A DLL4 PEX12 NDP STIM1 NBEAL2 KIT LMNA VPS33B STK11 SMPD1 NPM1 HPGD TMEM127 TERC ZBTB16 ERCC6 TGFBR2 RRAS2 NRAS RASA2 GCDH ITGB4 FAS COG6 EPAS1 STAT3 CTC1 THPO UFD1 TCIRG1 ACP2 HPS4 MAPK1 ACTA2 COL4A2 ABCG8 SBDS TNFSF11 B2M GREM1 TNXB ACVRL1 FAN1 ARF1 OCLN IL10 SDHAF2 FH GP9 TSC1 MYORG RREB1 PKHD1 IKBKG USP18 CALR SERPINE1 ELN MYH11 TMTC3 ATOH7 HIRA NF1 HPS6 TGFBR3 F13B MAP2K2 COLGALT1 CST3 NLRC4 HPS1 CDKN1B BEST1 ADA2 SLCO2A1 A2ML1 DSE HMCN1 CASP10 LRP5 RAF1 NLRP3 PTPN11 PET100 ACAD9 PRKACG P2RY12 RFT1 GATA2 SF3B1 ZNF469 RIN2 PLOD3 ALDOB IL12A-AS1 CTNNB1 PCCA CLCN7 NTRK1 MAP1B MVK JMJD1C CBL HELLPAR MSH2 STN1 HSD3B7 CFHR3 IKZF1 FASLG SMO ALPL KIF23 FN1 FANCA KRIT1 RASA1 RUNX1 CDKN2C GNAS SLC2A10 NFIX RHBDF2 DZIP1L ANO6 CYP11B1 SAMD9 COPA FKBP14 GNA14 IKZF5 AP3B1 MPI JAM2 ARL6IP6 FOXE3 MEN1 PRLR GDNF IFNG ZMPSTE24 MLH1 NEDD4L MMUT CCM2 PIK3CA TLR4 ARMC5 ERMARD DNMT3A LMBRD1 MDH2 RNF168 ARVCF PMS1 SH2B3 CDH23 DOCK6 SREBF1 NUMA1 RANBP2 LMAN1 CPT2 HPS5 CYSLTR2 PLOD1 BMS1 MYD88 SEC63 PLAU FIP1L1 KLRC4 FANCD2 RPS20 WFS1 HLA-DPB1 LZTR1 GP6 GNA11 CD19 MTTP ETV6 SEMA4A FCGR2C PCCB IVD IRF2BP2 TFR2 PDGFRA ICOS HP_THROMBOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOCYTOSIS ACAT1 JAK2 PMM2 MTHFD1 BCR TET2 IFNG RUNX1 RPS24 GATA1 TTC37 TSR2 RPL26 RPSA MPL RPS26 RPS28 THPO HMGCL RPS17 ADA2 RPL11 RPS19 RPS29 CALR SKIV2L RPL18 LACC1 ABL1 ELANE TBC1D24 PSTPIP1 HBB CD55 SF3B1 TGFB1 SH2B3 RPL5 RPL35A RPS10 STING1 RPL35 RPL15 RPS7 RPL31 RPS27 IFNGR1 RPS14 RPS15A RPL27 HP_NORMOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCHROMIC_ANEMIA LCAT ALDOA RPL15 HK1 UQCRFS1 SF3B1 BPGM TREX1 TET2 ADA2 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 RPS15A RPL11 TPI1 RPS19 RPS29 RPL18 RPL27 HP_RETICULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOPENIA RPL15 FANCD2 FANCE TERC FANCA RPL35A RPS19 ADA2 RPS24 GATA1 RPL5 RPS10 TSR2 RPL26 RPL35 STEAP3 RPS7 PRF1 RPS26 RPS28 RPS17 MYSM1 FANCC IFNG RPL31 RPS27 TERT RPS15A TCN2 RPL11 RPS29 RPL18 SBDS RPL27 HP_NORMOCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCYTIC_ANEMIA ALDOA EFL1 SBDS HK1 RPS29 TOR1A SF3B1 BPGM TET2 TPI1 TREX1 DNAJC21 SRP54 MYD88 HP_INCREASED_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEMOGLOBIN VHL JAK2 EPAS1 EPO GATA1 EGLN1 SH2B3 HP_POLYCYTHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYTHEMIA CCND1 ACVRL1 ENG VHL SLC4A1 PIEZO1 GATA1 FH SLC30A10 KCNN4 BPGM JAK2 CYB5R3 EPAS1 EPOR EPO PKLR EGLN1 SH2B3 HP_GIANT_PLATELETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_PLATELETS CD36 GP1BA ITGB3 LBR SLC35A1 GP1BB MYH9 ITGA2B GP9 ABCG8 HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES FASLG STAT1 FAS PRKCD ITCH RFXAP RAG1 RASGRP1 FOXP3 PNP RFXANK ICOS CASP10 PGM3 STAT3 RFX5 CIITA HP_CONGENITAL_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_THROMBOCYTOPENIA MECOM GATA1 STAT2 WAS MYH9 HOXA11 HP_THROMBOEMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOEMBOLISM TLL1 ADA2 TNNT2 KCNQ1 PIGA SLC4A1 KIF20A PIEZO1 MTHFR FLNC UBA1 TNNI3 JAK2 F2 HABP2 HRG MYPN MMACHC CBS PRKAR1A MTRR FCGR2C MT-CYB KCNN4 SERPINC1 F13A1 PRDX1 CITED2 EPOR HP_HYPOPLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ANEMIA LPIN2 RPS19 SAMD9L RMRP PIGA MVK HP_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKEMIA RNASEH2B GFI1 SRP54 JAK2 BCR SMPD1 DDX41 SBDS KRAS PICALM BUB1B FANCE RUNX1 TSR2 SCN9A TET2 SAMHD1 THPO PIGL ARHGAP26 PDGFRA PDGFRB BUB1 LIG4 ATRX TP53 ABL1 SCN10A DNAJC21 SETBP1 ADA2 HAX1 SRSF2 RPL35 RPL15 FANCC EVC TERC RPL31 ERBB3 CHIC2 RPS14 NUP214 GLI1 GNB1 GATA2 SAMD9L F13B RARA ADAR ASXL1 PIK3CA MYD88 FLT3 MLH1 KIT GATA1 NBN RPL26 NUTM1 SCN11A XRCC4 ANAPC1 SETD2 SF3B1 DNMT3A CBL RNASEH2C MDM2 RPS15A BLM LPP IFIH1 CEBPA RPL27 SAMD9 RECQL4 CBFB PTPN11 CALR ATM FANCA BAX CDKN2A NF1 WIPF1 WAS MPL MEFV RPS17 BRCA2 RPL11 TERT RPS19 F13A1 NRAS TYROBP NPM1 BUB3 ELANE PIGA APC2 MSH2 TREX1 TREM2 RPL35A RB1 RPS10 RPS7 POT1 DYNC2LI1 CEP57 KIF11 APC NSUN2 STS RNASEH2A MLLT10 EP300 EFL1 RPS24 ETV6 NSD1 RPS26 RPS28 SH3GL1 CREBBP PIK3R1 CHEK2 RPS29 RPL18 TAL1 BRD4 FANCD2 TAL2 TRIP13 EVC2 RPL5 SH2B3 NUMA1 RPS27 DKC1 TCIRG1 FANCG HP_GRANULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOCYTOPENIA UNC13D AK2 SF3B1 TET2 HYOU1 TAZ ELANE RPS28 HP_APLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_ANEMIA NBN SRP54 PALB2 RECQL4 NOP10 ANAPC1 ACD PIGA GFI1 TINF2 DNAJC21 TERC EFL1 IFNG PRF1 TERT CD27 ELANE XIAP SH2D1A SBDS NHP2 SRP72 TCIRG1 GATA2 HOXA11 HP_RENAL_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_AMYLOIDOSIS NLRP3 SLC7A7 COL7A1 MEFV MMP1 SAA1 HP_ACUTE_KIDNEY_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_KIDNEY_INJURY CFH LPIN1 THBD CFI CD46 HPRT1 C3 SLC26A1 CORIN PYGM PKHD1 PRPS1 CFHR1 CCND1 CACNA1S HNF1B CFB TCN2 DGKE RYR1 HELLPAR SLC22A12 STOX1 DZIP1L FLT1 HNF4A STAT2 CFHR3 APRT SAA1 HP_VACUOLATED_LYMPHOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VACUOLATED_LYMPHOCYTES SLC17A5 GLB1 LYST AGA LIPA MAN2B1 CLN3 NEU1 FUCA1 HP_RETICULOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOSIS ANK1 GCLC GYPC SPTB KLF1 CASK SLC2A1 SLC4A1 SEC23B PGK1 CASP10 CFH EPB41 SPTA1 EPB42 FAS CPOX CFHR1 G6PD PKLR GATA1 ABCG8 KCNN4 RASGRP1 HBB RHAG NHLRC2 PIEZO1 HK1 ADAMTS13 PFKM HBG2 PRKCD CLCN7 MTTP CDAN1 ABCB6 CFHR3 FASLG CDIN1 HP_SIDEROBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIDEROBLASTIC_ANEMIA FANCB PNPO SLC19A2 WFS1 TRNT1 FANCL FANCI FANCE PUS1 FANCM ISCU XRCC2 UBE2T RFWD3 BRCA1 BRCA2 FANCG FANCA FANCD2 PALB2 MAD2L2 LARS2 FANCC RAD51C YARS2 ERCC4 SLX4 RAD51 HSPA9 BRIP1 ABCB7 FANCF ALAS2 HP_ACANTHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOCYTOSIS APOB GATA1 VPS13A XK PANK2 MTTP TOR1A CYP4F22 SC5D KCNN4 SPTB SAR1B CAD HP_ABNORMALITY_OF_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COAGULATION PEX11B PROC NPM1 CD46 MGAT2 ZBTB16 SLC25A15 PROS1 GGCX TINF2 RRAS2 LARS1 NRAS BCS1L RASA2 F11 STAT5B F8 SPTA1 EPB42 HBB HSD17B10 STAT3 RTEL1 PARN VPS33A PEX6 RYR1 AGGF1 TERT PRF1 PEX2 CFI ALG6 SRD5A3 PML GP9 MPDU1 FGB ABCC2 SLC25A13 SERPINF2 BCOR LYST SERPINE1 XIAP NR1H4 ALG2 TBL1XR1 GFI1B HAVCR2 F12 AGA F13B GP1BB NLRC4 SOS2 CFH SLC7A7 IDH1 PMM2 PEX5 A2ML1 VWF PEX26 RARA SOS1 RAF1 NGLY1 PEX13 F10 ATP6V0A2 F5 CACNA1S FGA PTPN11 SSR4 PET100 SERPINC1 BRAF F13A1 ACAD9 FAH AKR1D1 RFT1 ITGB3 GATA2 EFL1 PGM1 KLKB1 UQCRFS1 CYP7B1 STIM1 STX11 CTC1 WRAP53 PEX3 MRAS THBD NHP2 AMACR HSD3B7 CBL HELLPAR DKC1 STAT2 PEX14 FLNA FGG HMGCL MST1 F7 PEX12 MAP2K1 SPTB TERC NABP1 RBM8A HRG GPC1 PEX19 HADH SLC30A10 ANO6 USB1 PRKAR1A SERAC1 GNA14 PIGA GP1BA IKZF5 AHCY OSTM1 MPI PEX10 KRAS ALDOB ITGA2B PEX16 ORAI1 ACD GPR35 F2 ATP6V1A DDOST UNC13D F9 ALG12 GATA6 B4GALT1 TFAM ANK1 DOLK RINT1 NUMA1 COG4 LMAN1 DPM2 NBAS RRAS GALT MYD88 FIP1L1 VKORC1 TEK RIT1 NOP10 MCFD2 LZTR1 DPAGT1 SLC4A1 ATP6V1E1 PEX1 TRMU COG8 PLG DLD MTTP NBEAL2 IDH2 TCF4 IRF2BP2 GNE DPM1 PTH1R HP_REDUCED_FACTOR_XI_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XI_ACTIVITY F11 PMM2 ALG6 NGLY1 MPI MGAT2 HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA HBA2 KCNN4 BPGM ALDOA HBB HBA1 SLC4A1 PIEZO1 GPI HK1 HP_HYPOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_ANEMIA LPIN2 ALAS2 STK11 APC GALNT2 FAS HBB FOXP3 COL7A1 ELMO2 FGF23 CLCNKB HBA1 HBA2 DAXX PLA2G4A CASP10 KCNE1 KCNQ1 FASLG SHPK TRNT1 GATA1 WAS DNAJC19 SLC12A3 MMP1 ATRX IREB2 CD55 CLPX SF3B1 PUS1 TGFB1 HYOU1 ABCD3 TMPRSS6 IRX5 TF TET2 ABCB7 CP HP_SUBCUTANEOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_HEMORRHAGE LYST CR2 PROC NPM1 GP1BA COL5A2 FANCE ATP7A TERC ZBTB16 AEBP1 TBX1 TGFBR2 SMAD4 PROS1 PRKG1 STAT5B F8 FAS CHST14 STAT3 UFD1 ACP5 TCIRG1 HPS4 MAPK1 ACTA2 COL1A2 COL1A1 RAB27A TGFBR1 SBDS PRKACA TNFSF11 B3GALT6 SEC24C TNXB ADAMTS2 ATRX TNFSF12 CD81 GBA OCLN NEU1 PML GP9 MYORG CBS PTEN GSN SMAD3 PLEC SERPINF2 ENG RREB1 HBA2 USP18 BCOR PRKCD CALR SERPINE1 ELN MYH11 BLOC1S3 EPHB2 FANCC SLC35A1 HIRA KRT5 JAK2 TBL1XR1 HPS6 PDGFB ITGA2B GFI1B F13B FBN1 MYLK C2 GP1BB HPS1 USP8 KRT14 VWF DSE RARA CASP10 CFH NLRP3 ACVRL1 ITGB3 F10 PTPN11 GGCX COL3A1 BRAF GATA1 F13A1 PRKACG MFAP5 F5 P2RY12 MS4A1 ANKRD26 SLC20A2 GATA2 RASGRP1 ENPP1 ZNF469 STIM1 RIN2 C4A TGFB2 PLOD3 NFKB1 COL5A1 CLCN7 NTRK1 ITGA2 MYH9 SNX10 MVK JMJD1C XPR1 CFHR3 FASLG TREX1 F7 TNFRSF13C TET2 MAT2A FANCA MAP2K1 NABP1 RUNX1 WIPF1 PRDM5 DTNBP1 CFHR1 COMT AIP WAS GNAS SLC2A10 NFIX FLNA FYB1 PRKAR1A SAMD9 FKBP14 GNA14 FERMT3 JAM2 ARL6IP6 FOXE3 ABCC6 PRTN3 ETHE1 HBA1 IFNG TGFB3 TERT ORAI1 APOE PEPD GDF2 HOXA11 SIK3 F2 ARMC5 CD109 ARVCF HLA-DPA1 PDGFRB CDH23 TBXA2R NUMA1 TNFRSF1A LMAN1 ADA2 HPS5 NFKB2 PLOD1 CTLA4 MYD88 PLAU LOX FIP1L1 MPL SLC39A13 TNFRSF13B FANCD2 SLFN14 MCFD2 MTAP HLA-DPB1 HPS3 PTPN22 GP6 SCARB2 NBEAL2 C1R C1S ATP7B PRF1 COG8 CD19 ETV6 PDE11A FCGR2C IRF2BP2 TFR2 SH2B3 ICOS HP_PERSISTENT_BLEEDING_AFTER_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA F8 GATA1 P2RY12 SERPINE1 SERPINF2 MCFD2 F9 F5 F13A1 F13B VWF HP_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCYTIC_ANEMIA LPIN2 HBB SMAD4 HBG1 WIPF1 SRD5A3 ACVRL1 HBA1 HBA2 WAS DNAJC19 SLC35C1 TKFC AGGF1 SLC25A21 FARSA SLC25A10 SHPK TRNT1 ATRX SLC29A3 PSMB8 TEK PSTPIP1 SMPD1 CAT IREB2 PUS1 HBD ENG RIPK1 TMPRSS6 FECH IRX5 ABCB7 GDF2 CP ALAS2 FDX2 HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA STAT4 CFH THBD CFHR1 CFI CD46 IRAK1 CFB C3 HELLPAR SPP1 ADAMTS13 CFHR3 HP_METABOLIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ACIDOSIS VPS33B ACAT1 HMGCL PDHX TUFM COX6B1 STX3 BCS1L SURF1 NEUROG3 ATP6V0A4 OGDH CTNS ACADM SCNN1A COX14 SLC25A3 UQCRC2 HSD17B10 ATP6V1B1 NDUFS7 CYP11B2 NDUFAF1 HLCS VIPAS39 KLHL3 CPT1A HPD BTD NOTCH2 PPA2 MMACHC KYNU HIBCH HNF4A ACADS MCCC2 C1QBP RYR1 NADK2 MRPS22 GATA3 JAG1 AUH NDUFAF3 NDUFB11 OCRL SCNN1G MMAB ACADVL SLC5A1 IVD AGXT CUL3 POLG2 PNPO PC KCNJ5 COQ2 SLC4A4 LCT FBXL4 EHHADH GLYCTK ALDOB WNK1 DPYS NDUFA9 TANGO2 SCNN1B NDUFB8 PHKA2 SLC52A1 MMUT WNK4 NDUFV1 GALT PDSS2 EPG5 FBP1 MCCC1 MMAA NDUFAF8 SLC37A4 NDUFA6 GSS FH ALDH6A1 MYO5B GATM SLC4A1 CPT2 GFM1 MTO1 CLCNKB MLYCD SLC34A1 MCEE NDUFAF6 IBA57 CACNA1S NDUFAF4 HNF1B SLC2A2 NDUFA2 MT-TN FN1 PHKG2 PET100 DLD NR3C2 FAH SLC12A3 SLC25A19 INVS NDUFS2 CAD RMND1 SCO1 CA2 PLVAP GK PCCA GCDH MRPS28 CA5A CLDN16 PCCB UQCRB NDUFB10 COA8 PRDX1 PLPBP UQCC2 COX10 SCO2 HP_DEHYDRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEHYDRATION VPS33B ACAT1 ALOXE3 STX3 CYP11A1 PKHD1 CDKN1A NEUROG3 ATP6V0A4 CTNS SULT2B1 ITGB4 SCNN1A SPINK5 LAMB3 ABCA12 FCGR2A STAT3 KCNJ1 EIF2AK3 NR0B1 CDKN2C TCF3 MMACHC TGM1 ABCC8 BLNK PLAGL1 ZFP57 PDX1 OCRL SCNN1G DBH ALOX12B MMAB MMUT CDKN2B LIPN SLC5A1 HYMAI MEN1 CLCNKB LCT ACAD8 CD79B AQP2 SCNN1B CYP4F22 CDKN1B HSD3B2 MMAA EGFR IGHM SLC12A1 MYO5B GATM ACSF3 CFTR SLC26A3 CYP11B2 KCNJ11 TGFB1 NIPAL4 SLC34A1 MCEE NDUFAF6 HMGCL AK2 PLEC LAMC2 INS IGLL1 NLRP3 AVPR2 LRRC8A CA12 NR3C2 GCK LAMA3 PIK3R1 CYP24A1 PCCA MRPS28 CD79A PCCB EHHADH IVD SDR9C7 HP_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEVER TP53 VANGL2 NOD2 RNASEH2B UNC93B1 TMEM165 FOXP1 SRP54 MT-ND4 PADI4 BCR IL6 NPM1 CASK EIF2B1 GFI1 IL7R POMP ZBTB16 RUNX1 SPP1 HLA-DRB1 CFTR KCNJ1 STAT5B SPTA1 EPB42 RAG2 SAMHD1 TCF3 CYP11B2 BTNL2 DIS3L2 XPC DDB2 STAT3 TET2 MT-ND1 SLC35C1 BCL10 RAB27A MEFV RYR1 STAT4 STAT6 SCNN1A PRF1 LPIN1 PSTPIP1 KRT18 TRIM28 SLC29A3 IL23R PSMB8 PTPN22 CTRC OTULIN CD3D IL10 FAS NCF2 UBA1 PRSS1 PML TSC1 TSC2 ABCC2 ORAI1 CACNA1S BCOR CD79B MT-CO1 IL2RG CALR MYD88 BACH2 XIAP IL12B CYP21A2 TNFRSF1A MT-TV NLRC4 JAK2 MT-TS2 TBL1XR1 DST HAVCR2 IRF8 NLRP3 WT1 ASAH1 CHD7 LPIN2 ADAR CYBC1 SPTB MT-ND5 FBP1 QDPR ATP1A2 CCND1 STXBP2 LIFR IFNG IGHM PRKCD RARA CFH EPB41 CD244 BCAP31 TBK1 EIF2B2 ATP13A2 CD3E G6PD PEX6 CD70 CYBA TH MT-ND6 UBAC2 NLRP12 RMRP LAMC2 H19 REST ADA AVPR2 COL1A1 NCF1 XPA ABL1 EIF2B3 LACC1 LRRC8A ELP1 TRIP13 NLRP1 MT-TL1 SCNN1G GATA2 KIF1B MT-ATP6 PSMB9 AVP PRSS2 IL12A POU6F2 ADAMTS13 MT-TH GAA STX11 RIPK1 GPC3 RNASEH2C IL12A-AS1 MALT1 SCNN1B GALC IRAK1 SCYL1 NTRK1 C4A MVK MT-CYB SLC22A4 MT-TK COG6 STAT2 CFHR3 IFIH1 IKZF1 ALPL ACAT1 TREX1 HMGCL MST1 GYPC LIG4 MLX ZFHX2 LBR MTHFR ERCC3 CRLF1 LAMB3 NABP1 PMP22 PMM2 MIF WIPF1 F5 CFHR1 WAS EIF2B4 HNRNPK RAG1 BCL2 PSAP CCR1 PTPN3 MT-TF BLNK CACNA1A HBB ERCC5 P4HTM PRKAR1A STIM1 ENPP1 EDA SPINK1 PTS PSMB4 MT-CO3 GLA GCH1 NGF SLC5A1 CD247 MT-ND2 ELANE MT-TQ EIF2B5 IL36RN TRAF3 WDR1 PRTN3 NKX2-1 AQP2 POLR3A BRCA2 TLR3 GPR35 TNFAIP3 PRNP LYST TICAM1 MT-TW ERAP1 TLR4 SLC12A1 BTK UNC13D ERCC2 RNASEH2A RNF168 KLHL7 ABCC6 HLA-DPA1 BCL6 CYBB CD27 ANK1 LIPA IBA57 RB1 PKHD1 AK2 NUMA1 RANBP2 ADA2 SLC11A1 IGLL1 CTLA4 HLA-B KRT8 FIP1L1 TRNT1 KLRC4 SLC19A3 HMBS NGLY1 MPL LAMA3 HLA-DPB1 PIK3R1 SLC4A1 NAB2 STING1 CHEK2 SH3KBP1 ATP1A3 ERCC4 ATM MT-ND3 CPT2 NFKBIL1 HTR1A IFNGR1 CD79A BIRC3 NCF4 TCF4 IRF2BP2 CIITA MT-CO2 SH2B3 TCIRG1 SLC12A3 ITK DCLRE1C HP_KETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOSIS ACAT1 POLG INSR COX6B1 FBP1 PHKA2 SHOX MMAA SLC37A4 PYGL GYS2 ITPR3 INS ACSF3 BCKDHB HYMAI HNF1A ZFP57 EIF2AK3 KCNJ11 CLCNKB TRMT10A MLYCD ACADM PPP1R15B BTD SLC16A1 RRM2B HNF4A PHKG2 GHSR MCCC2 POLG2 TWNK PTPN22 MMAB SLC12A3 ATP5F1D DBT ABCC8 PLAGL1 CYC1 BCKDHA IL6 GK GCDH CA5A IVD OXCT1 PAX4 MMUT SLC25A4 HP_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ACIDOSIS VPS33B PDSS2 EPG5 BCS1L SURF1 ATP6V0A4 CTNS GATM SLC4A1 ATP6V1B1 CLCNKB NDUFB8 SLC34A1 CYP11B2 NDUFAF6 VIPAS39 CPT1A HNF1B SLC2A2 NOTCH2 KYNU MT-TN FN1 HNF4A PHKG2 NADK2 GATA3 JAG1 NDUFAF3 FAH OCRL SLC12A3 PC COQ2 NDUFS2 SLC4A4 CAD RMND1 ALDOB FBXL4 CA2 CLDN16 EHHADH PHKA2 COA8 UQCC2 SCO2 HP_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALKALOSIS SCNN1A ASS1 NR3C1 SARS2 OTC HSD11B2 ASL USP8 SLC12A3 CACNA1D SLC12A1 SLC25A15 KCNJ10 SLC26A3 KCNJ1 NARS2 CLCNKB AIP BSND KCNJ5 SCNN1B CA5A SCNN1G CYP17A1 CLCNKA CPS1 HLA-B IKZF1 HP_HYPOKALEMIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_ALKALOSIS CLCNKB BSND SCNN1B CYP17A1 SLC12A1 CLCNKA KCNJ10 HLA-B IKZF1 SLC12A3 KCNJ1 HSD11B2 HP_RESPIRATORY_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ALKALOSIS SLC25A15 ASS1 CPS1 OTC ASL CA5A HP_GLUCOSE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCOSE_INTOLERANCE RNASEH2B RHO STAT1 CLIP2 NDUFS4 UBR1 PPARG WFS1 POLA1 SMPD4 MT-TS2 IL2RA INS EYS MT-CO3 CFTR STAT3 TTPA NDUFV1 SIX3 TRMT10A SAMHD1 RP2 RPGR RTEL1 PRPF4 PDE6B ABCC8 AKT2 MT-ND1 SLC19A2 MLXIPL CTNS PLCD1 HFE SAG PRKACA MAGEL2 NEUROD1 KCNJ11 PSTPIP1 MT-TF PDX1 IFT140 MT-TK CTNNB1 NSD1 BLK NRL SNRPN DISP1 SLC29A3 PSMB8 CTRC MT-TE GTF2I PIK3R1 HYMAI NDUFB10 DNAJC3 IL18BP C8orf37 NDN MT-CO1 MT-ND2 BSCL2 PALLD NODAL TCF7L2 PDE4D GATA3 ARL2BP RP1 AR MOG TBL2 MT-ND5 POLG2 AHI1 FXN KLF11 MT-TC ZMPSTE24 POMGNT1 CLRN1 LHX1 GAS1 NDUFAF2 ZFP57 GPD2 CASR PRSS1 PPP1R15B HERC2 MT-ND6 CARS1 HNF1A GLRX5 NDUFA1 PWAR1 PAX4 MT-ND3 APPL1 LIMK1 XRCC4 IL6 SLC40A1 ZNF513 GCK NDUFAF3 AIRE SLC30A8 MT-TL1 GJA1 PCARE CORIN DCAF17 HMGA1 RP9 PROK2 NOTCH3 CTC1 INSR PTCH1 ARL6 RNASEH2C ALMS1 NDUFA6 FSCN2 NPAP1 HNF1B BLM FUZ FLT1 DKC1 SNORD116-1 IFIH1 WRN SPINK1 HNF4A SHH NDUFAF1 IGF1R CISD2 AIP PCNT APOA5 PDE8B FGFR1 MT-CYB KIAA1549 TERC NEK2 PROKR2 IFT172 EIF2AK3 CERKL FOXRED1 CEL IFT88 HMGA2 MKRN3 SNORD115-1 CPA1 TMEM126B PDE11A TWNK POLD1 MT-TQ RGR RETN PTPN22 IMPDH1 GLIS3 USP8 RTL1 CAT VANGL2 DLL1 MT-TW TTC8 POLR3A ZBTB20 NUBPL IRS1 GJB3 NPM1 SOX3 BRCA1 LMNA OCA2 AEBP1 USH2A MEG3 PNPLA2 RPE65 AGBL5 LEPR ARHGEF18 FOXC2 FBN1 CDHR1 CDON STOX1 GJB4 DLK1 PRKAR1A ELN FOS SLC12A3 ZNF408 AMACR APOE NOP10 PEX1 HGSNAT MEN1 BRAF GATA6 PLAGL1 NKX2-5 RBP3 MT-ND4 CA4 HJV EDA HESX1 SMAD4 ABCA4 TCF4 FOXP3 POC1A NDUFS2 NDUFA11 DNM1L SLC7A14 SNRNP200 TOPORS HLA-DRB1 TIMMDC1 ELMO2 HBB PPP1R3A SEMA4A NDUFS6 SBDS IDH3A SIM1 CNGB1 CP ESR1 PLIN1 PRSS2 WT1 LEMD3 TERT ITCH BBS2 HAMP SLC5A1 CDKN2A GTF2IRD1 SCAPER LMNB2 CAV1 PDE6A RFC2 CNBP KIZ RP1L1 LIG4 MAFA PCBD1 LIPE KLHL7 TGIF1 ADAR IRS2 HSD3B2 LRAT PEX10 GLI2 GPR101 CRX FGF8 CLCNKB FOXP1 NEUROG3 CNOT1 MT-ATP6 PTRH2 PROM1 MT-TV SRP54 NDUFAF5 SARS2 OTX2 PTF1A MTNR1B NDUFS3 CAVIN1 MT-CO2 NSMCE2 MT-TH NDUFB11 IMPG2 NDUFB3 KDSR WRAP53 BRCA2 NHP2 AHR NDUFV2 MAK PDE6G LRP6 PEX6 VANGL1 MST1 CRB1 TP53 ERGIC1 ZIC2 RAC1 MTHFR CYP19A1 ATM ITPR3 SPATA7 NDP PRPF3 LEP PRCD PALB2 ENPP1 HLA-DQB1 MMP2 GNAS ARNT2 RRM2B RDH12 BBS1 STUB1 CEP19 USB1 IARS1 SLC2A2 TKT TULP1 DHX38 NDUFS1 NDUFS8 CIDEC DMXL2 TREX1 CCDC28B DNAJC21 RLBP1 CNGA1 NR2E3 LRBA PARN BMP2 PNPLA6 MTX2 AGPAT2 TTC7A GPR35 SUFU PRPH2 POLG TINF2 MMP14 NDUFB9 EIF2S3 REEP6 DMPK ARMC5 ARL3 KRAS NDUFAF4 RNASEH2A GUCA1B IDH3B NDUFS7 EFL1 ALAS2 IER3IP1 PWRN1 TUB BEST1 CDH23 PRPF31 FAM161A ADA2 PRPF6 TDGF1 MAPK8IP1 SLC16A2 MERTK ZFYVE26 OPA1 LIPC BAZ1B EDA2R MKKS ROM1 FOXH1 PAX6 PRPF8 NDUFAF8 IGF2BP2 SOX2 KCTD1 PTPN1 OFD1 COL2A1 DHDDS MC4R SLC25A4 HP_DIABETIC_KETOACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIABETIC_KETOACIDOSIS ZFP57 KCNJ11 ABCC8 CLCNKB INSR INS PLAGL1 SLC12A3 HYMAI HP_RECURRENT_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FEVER TNFAIP3 ELANE ZFHX2 QDPR STXBP2 LIFR CRLF1 PRKCD MVK RNF168 NLRP3 MEFV PMP22 BCAP31 CYP11B2 HBB PEX6 IBA57 CD70 HNRNPK TNFRSF1A NLRP12 ADA2 SLC35C1 LACC1 NOD2 PRF1 ELP1 NLRP1 TRNT1 STIM1 SLC29A3 PTS PSMB8 PSMB9 OTULIN PSMB4 GCH1 UBA1 NGF ORAI1 NTRK1 WDR1 STX11 STING1 RIPK1 SH3KBP1 IL2RG GALC XIAP CYP21A2 LPIN2 COG6 STAT2 NLRC4 SLC12A3 ITK ASAH1 HP_UNEXPLAINED_FEVERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNEXPLAINED_FEVERS RNASEH2B TMEM165 ADAR NKX2-1 SAMHD1 AQP2 RNASEH2C NTRK1 PSAP LAMC2 RNASEH2A TREX1 LAMA3 GALC LAMB3 AVPR2 IFIH1 HP_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_OBESITY SLC7A7 FMR1 ARMC5 IGF1 TRAPPC9 IGF1R PCNT XYLT1 MAN1B1 XRCC4 HDAC8 EP300 ALMS1 SMC1A PRKAR1A SETD5 CDH23 GHR GNAS CREBBP ADNP DYRK1B AKT2 RNPC3 DLK1 THOC2 USP8 IGFALS LAS1L PHF6 PSMD12 NIPBL WAC POMC SLC10A7 KMT2A ZBTB20 PDE11A RAD21 MEG3 PCSK1 SMC3 BPTF INPP5E RTL1 MC4R VPS13B HP_NONKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONKETOTIC_HYPOGLYCEMIA ACAD9 GREB1L MEN1 AKT2 CPT2 RET HMGCL ACADVL ITGA8 FGF20 HP_HYPOKALEMIC_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS CLCNKA CLCNKB BSND KCNJ10 HLA-B IKZF1 SLC12A1 KCNJ1 HSD11B2 HP_HYPOPLASTIC_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HEART COQ4 PKD1L1 WASHC5 TRAF7 DVL3 GATA4 NKX2-5 NR2F2 SPOP STAG2 CHRNA1 DTNA GATA5 CHRNG GJA1 ARHGAP31 MYRF TBX5 WT1 GATA6 NADSYN1 FLI1 MKKS SMAD6 CRELD1 CCDC22 CDK8 CHRND FOXF1 B3GLCT ZNF148 PAH KYNU HAAO MCTP2 TBX1 NOTCH1 HP_PALPITATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPITATIONS SDHD POLG MAX DNMT3A KCNA5 NKX2-5 GABRA3 MDH2 SDHB CAV3 TBX20 PKP2 ISCU RET CLCNKB DAXX KCNJ2 EPAS1 TET2 RRM2B ACTC1 VHL SCN9A SDHC MYH6 CITED2 POLG2 DLST TWNK TLL1 TMEM127 GYG1 SDHA DSG2 CDH23 SLC12A3 GATA4 SLC25A11 SDHAF2 FH KCNJ18 NPPA CACNA1S NF1 ATRX KCNQ1 KCNE2 SCN5A NR2F2 PRKAG2 BVES MYL2 JUP TMEM43 CDH2 GATA6 CNBP JPH2 CRELD1 DSC2 CACNA2D1 KCND3 MEN1 MYL3 KCNH2 TP53 MYL4 KIF1B SLC25A4 HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES B3GLCT WNT7A PDE4D CANT1 TCF4 HOXA13 RSPRY1 TRPS1 PRMT7 FLNB FGFR2 FGFR1 RIPK4 HDAC4 KCNJ2 PTHLH MAP3K7 GNAS PEX7 HOXD13 TWIST1 LMBR1 GDF5 COG4 COL2A1 VPS35L HINT1 FAT4 PORCN PRKAR1A SMARCA2 DYM FLNA CHSY1 PIGS SALL1 DCHS1 BMPR1B IFT52 SIL1 PHYH NPR2 TP63 RBPJ RAB33B SRY EZH2 POC1A VPS13B HP_ABNORMAL_SCALP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCALP_MORPHOLOGY MEOX1 KDM1A UBR1 PPARG SMPD4 FGFR3 TINF2 ZIC1 TSR2 TRMT10A PHF8 MEIS2 CEP152 GDF6 SLC35C1 LIG4 CPLX1 TBC1D20 RBBP8 OCRL HDAC8 NSD1 TBC1D24 ARID1A CENPJ ITGB4 KIFBP NSD2 CBS ASXL1 AXIN2 ADA2 THOC6 RNU4ATAC KCNJ8 COL17A1 BSCL2 CLDN1 LSS RAB3GAP1 KCNH1 FRAS1 SOS2 TSC1 SRCAP IGF1 ALX1 SOS1 SPECC1L SMC1A ADNP SETD5 NELFA PPP1R15B MAP3K7 FRMD4A ADAM17 NHP2 CDH3 COL3A1 ALX4 BRAF SHOC2 ACTB VAC14 NBN PTDSS1 WASHC5 XRCC4 CNTNAP2 MPLKIP KRT14 GJB6 UBE2A INTU TRPS1 COG7 LAMC2 PLK4 KRT25 POLR1B CDSN ODC1 MRAS SOX18 CENPE RPS15A SMC3 MAB21L1 CHRNG DPH1 WRN SMARCA4 NOP10 NOVA2 IGF1R PCNT POLR1C MAF HSPG2 MAP2K1 SPINK5 FGFR2 SIN3A NFIX LETM1 SPRED1 COG5 IFIH1 POLR3A DLX4 WNT10A MADD GJB2 RPL11 RPS19 ALX3 MED25 TECPR2 ERMARD B3GAT3 PEPD DSG4 KANK2 RTEL1 RPS10 ATP6V1B2 KRAS LAMA3 ZBTB20 TP63 PPP1CB ERCC2 ANTXR1 PIGK ACD AHSG EFNB1 SRY MSX2 SETD2 GTF2H5 SLC25A24 NSUN2 MAN2B1 KREMEN1 FGD1 COL7A1 LPAR6 RPS24 TCF12 KAT6B RPS28 CHN1 SMARCE1 DPM2 RALGAPA1 RAB3GAP2 B4GALT7 RPL18 RRAS NOTCH2 B3GALT6 FOS SLC12A6 PIK3C2A NF1 MMP1 EDARADD RIT1 PEX1 ITGB6 RPL5 NTRK1 ADARB1 CWC27 AIFM1 TBL1XR1 UGP2 LRPPRC KNSTRN RAD21 SMARCD1 PACS1 TMCO1 SPOP RAB18 HR LAMB3 APC HPGD CDH1 RNF113A AEBP1 CPOX RRAS2 DOCK7 NRAS RASA2 NECTIN4 ATRIP DOCK6 ARID1B MAPK1 PARN MID1 ATR NANS KRT74 GTF2E2 NOTCH3 TERT VPS13B SLC9A7 CCDC22 RPL35 RPL15 LMNA RPL31 ITGA3 VPS51 XYLT2 PIK3CD ECM1 ALDOA NRXN1 SLCO2A1 A2ML1 MAFB KLHL24 RAF1 FLI1 GATA1 RPL26 CNOT3 SMARCC2 PTPN11 INSR CDH2 SMARCB1 ANKRD11 DSC3 NEPRO CHST3 MYH3 CAVIN1 TBX2 KCNN3 RIN2 BRCA1 KRT17 IRX5 TRAIP CBL STAG2 MAP2K2 RPL27 SNRPE PEX6 SH2B1 TBX15 NIPBL ERCC3 EGFR PTPN22 GDF3 TWIST2 ABCC9 TWIST1 EMC1 RPS17 RPL21 CCNK LRP2 EBP SMARCA2 SLC29A3 CAV1 FIG4 ACTG1 SLC39A4 APC2 SVBP RPL35A APCDD1 RPS7 KMT2A LIPH TFAP2A RERE AGPAT2 TTC7A SALL4 TARS1 PEX19 EXT1 PCGF2 TAF6 MED13L HUWE1 EP300 CTBP1 FAS RHOA FGFRL1 TCOF1 RPS26 CREBBP EPS8L3 HDAC4 JUP RPS29 DPF2 PRKD1 SYT1 LZTR1 POLR1D KCTD1 GNE RPS27 PLEC KLHL7 ZC4H2 ARX HLA-DRA MYO18B MBTPS2 WNT4 DKC1 HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY COPA APOE NUP107 WT1 NPHS1 ADA FN1 AVIL WDR73 COQ6 NUP93 TP53RK ARHGDIA SGPL1 PLCE1 OSGEP LAMB2 SPRY2 HP_DIFFUSE_MESANGIAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_MESANGIAL_SCLEROSIS NUP107 WT1 NPHS1 ADA AVIL WDR73 COQ6 NUP93 TP53RK ARHGDIA SGPL1 PLCE1 OSGEP LAMB2 HP_ABNORMAL_TUBULOINTERSTITIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TUBULOINTERSTITIAL_MORPHOLOGY BAZ1B SLC7A7 CLIP2 LIMK1 ELN PDSS2 TBL2 PKHD1 SLC12A3 NDUFAF6 CTNS NPHP4 HLA-DRB1 UMOD GTF2IRD1 PTPRO FOXP3 MUC1 GTF2I IFT122 CPT2 CLCN5 COQ2 INVS FAN1 BCS1L CLCNKB RFC2 BTNL2 BSND CEP83 ALMS1 FOXC2 ACP5 WDR19 SLC30A9 ANTXR1 NPHP3 PUS3 NPHP1 GBE1 REN TRAF3IP1 MMUT DPH1 HP_TUBULOINTERSTITIAL_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TUBULOINTERSTITIAL_NEPHRITIS SLC7A7 PDSS2 SLC12A3 HLA-DRB1 UMOD FOXP3 MUC1 IFT122 CPT2 COQ2 INVS FAN1 BCS1L CLCNKB BTNL2 CEP83 ALMS1 FOXC2 WDR19 SLC30A9 PUS3 TRAF3IP1 MMUT DPH1 HP_HYPERSPLENISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSPLENISM ITCH FAS PRKCD SMPD1 HBB RASGRP1 GBA CASP10 DZIP1L NOTCH1 PKHD1 FASLG SCARB2 HP_MACROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCYTIC_ANEMIA CUBN MTHFD1 DNM1L SLC19A2 WFS1 UMPS RPL11 PHGDH SLC4A1 SLC46A1 LMBRD1 MTRR MMADHC CBLIF EFL1 RPS24 FTCD GATA1 LARS1 TSR2 RPL26 RPS26 MMACHC RPS28 RPS17 RMRP SBDS RPL5 RPS19 RPS29 RPL18 OPA1 SRP54 RPL15 HPRT1 PIEZO1 RPL35A UBA1 TET2 ADA2 RAC2 DNAJC21 AMN DHFR RPS10 RPS14 MTR RPL35 RPS7 RPL31 RPS27 RPS15A TCN2 CDAN1 KCNN4 PRDX1 COX10 ALAS2 SFXN4 RPL27 HP_AUTOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_THROMBOCYTOPENIA ZAP70 STAT1 KDM6A CR2 IL7R SMPD1 RFXAP TNFRSF13C MAGT1 TPP2 FAS FOXP3 PRKCD CASP10 RFX5 CTLA4 ACP5 RASGRP1 KMT2D TNFSF12 PNP NFKB2 ARHGEF1 STAT3 CIITA FASLG NRAS MS4A1 TNFRSF13B KRAS CD81 NFKB1 LRBA GALC CD19 ADA RFXANK ITK ICOS HP_LEUKOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOCYTOSIS ACAT1 ZAP70 SPINK1 UNC93B1 SRP54 BCR SALL4 LIG4 NPM1 CASK TET2 SLC27A4 GFI1 IL7R ZBTB16 RUNX1 MVK SPINK5 CARD11 JAK2 MEFV NABP1 STAT5B EXTL3 HBB RAG2 ZNF341 FAS CARD9 NCKAP1L BTNL2 STAT3 RAG1 SRSF2 CPA1 SLC35C1 DOCK8 PDGFRA NLRP3 PRSS2 PDGFRB NRAS PGM3 PRKAR1A IL6ST ELANE OTULIN CD3D PML CD247 SLC46A1 TGFB1 HYOU1 IL36RN IKBKG FERMT3 TRAF3 BCOR RAC2 PRKCD CALR IL2RG ITGB2 SH2D1A TLR3 TBL1XR1 XIAP CHD7 BCL11B LPIN2 RNASEH2B TICAM1 ASXL1 ARPC1B IFNG RARA CASP10 CTRC TBK1 RNU4ATAC CASR PRSS1 SREBF1 CD3E LMNB2 G6PD HMGCL NUMA1 TNFRSF1A NLRP12 RMRP ADA2 JAK1 ADA LACC1 ABL1 FASLG CFTR XRCC4 FIP1L1 NLRP1 GATA2 KRAS RASGRP1 HLA-DRB1 TRAC SF3B1 MPL CAPN3 DCLRE1C IFNGR1 CBL IRF2BP2 KIT TCIRG1 FOXP3 STAT2 RBM8A HP_REDUCED_ANTITHROMBIN_III_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY PMM2 ALG6 MGAT2 PGM1 SRD5A3 DPM2 SERPINC1 AHCY DPM1 MPI DPAGT1 HP_ABNORMAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOSIS SPINK1 JAK2 PROC NPM1 TET2 TNNT2 CD46 ZBTB16 SMAD4 NOTCH1 RASA1 PROS1 FGB NABP1 PMM2 CFTR STAT5B GNAQ HRG MYPN MPL STAT3 THPO MMACHC SLC2A10 MTRR CPA1 CCR1 PDGFRA SERPINC1 PRSS2 CITED2 AGGF1 STAT4 HBB PRKAR1A USP8 CFI TP53 IL23R PTPN22 KCNQ1 PIGA CTRC IL10 PIEZO1 FAS CD55 UBA1 PRSS1 VHL PML CBS ENG MPI PTEN PDE4D BCOR PRTN3 HABP2 SERPIND1 CALR MTHFR AKT1 KIF11 TBL1XR1 FGA GDF2 PIGM MYH9 NLRC4 FGG CFH IDH1 ADA2 ERAP1 TLR4 SLC4A1 FLNC TNNI3 RARA HLA-DPA1 SH2B3 ACVRL1 CASR CDH23 F5 NUMA1 UBAC2 BMPR2 IDH2 CTLA4 TLL1 CTNNB1 MEFV MET PLAT HLA-B RFT1 FIP1L1 KLRC4 F9 RHAG MYH7 KIF20A PGM1 IL12A HLA-DPB1 F2 IL12A-AS1 THBD C4A FCGR2C MT-CYB HELLPAR KCNN4 F13A1 IRF2BP2 PRDX1 EPOR PTH1R SAA1 HP_EXTRAMEDULLARY_HEMATOPOIESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAMEDULLARY_HEMATOPOIESIS SLC4A1 SPTA1 EPB42 HBB ANK1 RBM10 CA2 LBR CALR FGFR2 TET2 VPS45 JAK2 MPL SPTB OSTM1 TNFSF11 FERMT3 HP_SCHISTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHISTOCYTOSIS KCNN4 SC5D CFHR1 TRNT1 CFH ADAMTS13 CFHR3 SLC4A1 PIEZO1 CAD HP_SEA_BLUE_HISTIOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEA_BLUE_HISTIOCYTOSIS NPC2 SMPD1 APOE NPC1 GLB1 HP_HYPOKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKETOTIC_HYPOGLYCEMIA HADH AKT2 CPT1A HADHA KCNJ11 ACADVL CPT2 SLC25A20 HADHB DOLK GCK HNF1A ABCC8 HNF4A UCP2 HP_HYPERTONIC_DEHYDRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTONIC_DEHYDRATION CA12 AQP2 SPINK5 AVPR2 SLC5A1 HP_HYPERAMMONEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAMMONEMIA ACAT1 SLC7A7 HMGCL ASS1 SLC25A20 SLC25A13 TUFM COX6B1 MCCC1 OTC MMUT MMAA HADHB NDUFA6 SLC25A15 GLUD1 ARG1 CPT2 UQCRC2 HSD17B10 TMEM70 GLUL ATPAF2 ACADM RINT1 HLCS BTD MMACHC HADHA NAGS HADH PCCA GOT2 MCCC2 NBAS ASL CPS1 SLC25A42 ACAD9 MMAB ACADVL SERAC1 PDHB ATP5F1D MRM2 CAD CYC1 SLC22A5 PCCB TANGO2 CPT1A DLD NR1H4 CA5A MECP2 HP_RECURRENT_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HYPOGLYCEMIA STAT6 SLC22A5 NAB2 MC2R MRAP HMGCL INSR GCK MEN1 NFKB2 PPP1R15B PAK1 HP_FETAL_AKINESIA_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_AKINESIA_SEQUENCE RAPSN KLHL41 SLC18A3 NUP88 DOK7 MYOD1 CHRNA1 MYPN PIGS ACTA1 CHRNG NEB LGI4 NEK9 ZC4H2 CNTNAP1 GBA TPM2 KBTBD13 KIF5C MAGEL2 MUSK CHRND TPM3 KLHL40 RYR1 CNTN1 TRPV4 GLE1 HP_APLASIA_HYPOPLASIA_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_TOE ALOX12B FLNA SALL4 TBX3 PUF60 SOX4 CHSY1 NOG IL7R HOXA13 IFT122 SF3B4 COX4I1 KCNH1 ARID2 ALMS1 PIGV APC MGP MYT1L RMRP ARID1B EOGT LMBR1 TRMT1 NOTCH1 ACTL6B FGFR1 FGFR2 FBXW11 CPLX1 ADAMTS2 GLI3 RBPJ MED13 BMP2 NSD2 DHCR7 ASXL1 FGFR3 HOXD13 HBA2 ACTL6A KCNJ8 PDE4D TANC2 RIPK4 IL2RG PRKAR1A GPC3 DYRK1A ASAH1 CHD7 ROR2 B3GLCT RAB3GAP2 DOCK3 DDX6 TNNT3 RAG2 SPECC1L SMAD4 ZMIZ1 SMARCE1 NELFA GDF5 PHF6 ACVR1 ARHGAP31 LRP4 DLX5 GHR PTHLH GPX4 SMARCA4 CTSK COL2A1 RNU4ATAC ADA C12orf57 LMNA VAC14 SMOC1 SALL1 WNT10B NTNG1 TCF20 KCNN3 NEK1 TBX22 BMPR1B WNT7A LIG4 DLL4 DPF2 ABCC9 GPC4 BPNT2 LETM1 KMT2E DNMT3A HDAC4 RAG1 GNAS OFD1 PORCN ALOXE3 SOX11 SVBP FIG4 CHST11 TRPV4 SMARCD1 GJA1 HBA1 GRIP1 IHH WASF1 RLIM CTBP1 BPTF DACT1 KAT6A SOX9 FGFRL1 DOCK6 DOLK FLI1 SHOX PSMD12 ARID1A BHLHA9 NOTCH2 BCORL1 KMT2A MYCN SMARCC2 TBL1XR1 PTH1R WDFY3 SMARCB1 NPR2 TRAPPC4 DCLRE1C HP_ORGANIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORGANIC_ACIDURIA UROC1 ETFA HMGCL SLC52A2 SLC25A20 SUGCT HPD CPOX MMAA LMBRD1 SUCLA2 ACADM MMADHC MVK CPT2 SLC25A1 SLC25A4 HOGA1 ACSF3 MCCC1 IDH2 GCDH MLYCD MCEE HLCS MMACHC ETHE1 BTD DNAJC19 HADH TCN2 ALDH5A1 ABCD4 FLAD1 PEX1 PCCA POLG ACADS MCCC2 HCFC1 NADK2 DHTKD1 AGXT ACAD9 ETFDH MMAB CD320 KIF1B HMBS SLC25A19 ETFB SLC26A1 GRHPR GATM TAT PCCB SUCLG1 ACAD8 SCO1 MPC1 L2HGDH ACADVL D2HGDH OXCT1 NDUFB10 TAZ PRDX1 SLC52A1 MMUT RET PPOX HP_KETOACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOACIDOSIS ACAT1 KCNJ11 INSR PTPN22 SHOX SLC12A3 ATP5F1D ABCC8 ITPR3 INS PLAGL1 ACSF3 HYMAI CYC1 HNF1A ZFP57 EIF2AK3 CLCNKB IL6 GK BTD SLC16A1 CA5A HNF4A IVD MCCC2 OXCT1 PAX4 MMUT HP_RENAL_FANCONI_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_FANCONI_SYNDROME CLCNKB FAH BCS1L SLC12A3 HNF1B CTNS MT-TN OCRL SURF1 HNF4A COA8 HP_HYPERCHLOREMIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLOREMIC_ACIDOSIS GALT SLC34A1 NDUFAF6 KLHL3 NEUROG3 WNK1 CTNS GATM CUL3 EHHADH SLC4A1 SLC4A4 WNK4 HP_GOUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOUT LRP6 SLC37A4 SLC12A3 HPRT1 SEC61A1 G6PC UMOD APOE MUC1 HNF1B DNAJB11 SPTB PFKM PRPS1 SLC4A1 SPTA1 EPB42 CLCNKB ANK1 HP_NEONATAL_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOGLYCEMIA CYP11A1 HSD3B2 FBP1 GFM2 UCP2 KDM6A NSD1 HNF1A KCNJ11 INS KLF11 HADH PAX4 MADD DBH HNF4A ABCC8 PET100 AKT2 PRKAG2 GYS2 APPL1 CLPB MTOR GCK H19 DNAJC19 IGF2 SETD2 TBX19 PDX1 WARS2 APC2 KCNQ1 KCNQ1OT1 CEL HERC1 NEUROD1 CDKN1C PROP1 BLK COX10 HP_ABNORMAL_FACIAL_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_SHAPE APC2 DCPS CLIP2 CCDC174 NFIX UNC80 PUF60 CDH11 SOX4 PAK3 ACER3 TPO YY1 KMT2C ARMC9 ADGRG6 AP4M1 XYLT1 WNT5A AGA DHPS COL6A1 ATRX PRMT7 RMRP QRICH1 KCNH1 SUZ12 SLC9A6 ABCC9 CCDC115 BRCA1 PEX12 AIP ZIC1 TTC37 MGP C12orf4 CEP152 GDF5 RPS17 NOTCH2 MMACHC TUBB CXorf56 B9D1 FMR1 PSPH PEX6 PHACTR1 KANSL1 CREBBP IDS NEDD4L TRPS1 ZBTB24 FGFR2 PAK1 LIG4 MAGEL2 NPHP3 MAN1B1 ARL3 RAC1 TBX15 RIC1 ARID1A CENPJ DYM NSD2 NEB PIK3R1 ASXL1 FANCM GNAI3 ANTXR2 THOC6 KATNIP SLC26A2 TNNI2 NSUN2 ACTL6A GNPTG KCNJ8 ITGA8 ERF HPSE2 BSCL2 FIBP FUCA1 SYT2 EP300 NFIA SPEG NECTIN1 MSTO1 OFD1 BPTF AP1S2 JAK3 BRF1 TBL2 B3GALT6 TBR1 RBMX BRCC3 ALG9 GPC3 PEX5 CHAMP1 COX7B G6PC DEAF1 ITGA7 WASHC4 PEX26 CHRNA1 ZMPSTE24 FKBP10 SLC45A1 GLB1 XRCC2 SOS1 CLCF1 GP1BB ADNP BRSK2 LMX1B UBB POLE CTLA4 DYNC1H1 RUSC2 TCF4 COL6A3 TMEM237 MYOD1 MANBA SALL4 RAPSN CPLX1 PYCR2 FBN1 GPC6 NF1 NTRK2 SNRPN BRAF SKIV2L TSEN54 ERCC1 FBXO31 SATB2 OBSL1 GUSB LIMK1 TRAF7 TP63 SIM1 EDNRA CLPB SARS1 RELN GRHL3 P3H1 HRAS CCDC8 CHAT GATA1 SMARCA2 ALG11 PTPN11 DCAF17 AHI1 FTO COG7 COL2A1 PLK4 DHX37 CYP24A1 C12orf65 POLR1B SMS PAX7 ATAD3A HUWE1 GPR101 CENPE NDN DNMT3B BLM RAD51 ZC3H14 GFPT1 EFEMP2 SEMA5A SLC18A3 RAB11A MED12L CHRNG DPH1 WRN STXBP1 CHRNE NKX2-5 KDM5B VAMP1 GRIN2A PAX3 CENPT PLAG1 IGF1R MN1 MAF HSPG2 MOCS1 MEOX1 COL11A1 ADSL BPNT2 TTN SIN3A ELMO2 PGAP2 PIGA TMEM216 KMT2E FANCD2 COMT RLIM RHOBTB2 HMGA2 FUT8 CDK8 WNT7A TBC1D7 CLCN4 ACE KLF13 ASPH MED25 MRPS16 RPL10 TCTN1 TECPR2 NAA10 CRKL DIS3L2 BUB3 TRPM3 SYNGAP1 FLCN PIGS GLA HECW2 HPGD PDHA1 PEX13 COL1A1 SMARCD1 PQBP1 AP4S1 PEX10 TMEM67 AHCY PEX2 ACTB EDC3 PIK3CA MAP2K1 TWIST1 TRAIP C12orf57 B3GLCT ERCC2 AP4B1 BIN1 PIGK GBA RFXANK EHMT1 ABCA5 NHS EFNB1 GNAS AKT1 NONO GTF2H5 UBE3B AMMECR1 CANT1 MYL2 ACTA1 SIX1 KIRREL3 KCNQ1OT1 TRIP11 OCA2 AEBP1 PIEZO2 TDP2 CEP120 PHF8 SLC25A24 H19 NDUFB11 ST3GAL3 RDH11 DOCK3 NSD1 TAF1 KCNJ2 FHL1 DVL1 EEF1A2 LAMB2 LHX3 FANCC CHN1 ATP6V1B2 FLNB DDX3X ATP6V1E1 PSMD12 SLC26A4 SET WDR81 B4GALT7 ARX RSRC1 RRAS OPHN1 PIBF1 PPP2R1A BMP4 PRKAR1A ZEB2 ELN CIC FOS STAG1 FLNA SPOP AIMP1 RIT1 SPRTN COG4 MYPN MRPL12 FGF3 DDRGK1 CUL7 HNRNPK SMARCC2 TPM2 TBCK IGF2 HCCS MAD2L2 AIFM1 TBL1XR1 ATP6V0A2 KNSTRN LMNA FGF20 WDFY3 MEIS2 PPP1R12A ASXL2 PYCR1 TRAPPC9 MORC2 TMCO1 PLPBP POC1A SEC31A PEX11B TET3 INSR MED12 TUBB4A PGAP3 CDH1 RNF113A ERCC6 MBOAT7 LTBP3 SUMF1 RRAS2 NALCN MAFB USP9X MYT1L PIGN NUP133 CLIP1 UFD1 MAPK1 SLX4 TPM3 NANS TRMT1 FBXO11 MBD5 ACTL6B NUP107 RAI1 NDST1 FARSA SRCAP LEMD3 ANKRD11 ITCH MED23 TBC1D24 SETD1B SOX6 DUOX2 ASH1L HIBCH MED13 FAM149B1 GTF2IRD1 ETFB REN CRBN DNAJC21 POGZ L1CAM CSNK2B AP4E1 BMP1 PDE4D COL11A2 RFC2 ALDH18A1 PALB2 HEPHL1 NRAS TRIP12 ITGA3 DPYS TGFB1 PDE6D ZBTB18 AHDC1 SEMA3E RPS6KA3 ADAMTSL1 EZH2 SIX5 DYRK1A BCR ATR SOX18 ORC6 PIK3CD DDX6 DENND5A RNF13 KIAA0753 TNNT3 COL6A2 TMEM138 SMARCE1 RFX5 BCAP31 TCTN2 KDM6B SON STAT3 SUFU GHR EXT2 NOG NAGA PTRH2 SSR4 MCTP2 KCNA1 IDUA TTI2 SNAP29 STRADA SMAD3 CEP41 CCBE1 SETD2 METTL23 ADAT3 FGFR3 PTCH1 DHX30 FANCE EPB41L1 CHST3 CFL2 CAVIN1 PURA KCNN3 RIN2 GK NAGLU MRPS28 RYR1 JMJD1C CDCA7 CBL STAG2 PTCH2 TLK2 CRTAP ZMIZ1 CPLANE1 PROP1 ETFA PHIP ERGIC1 ADAMTS3 SLC25A1 CRLF1 SLC35A2 CC2D1A HSD17B10 KRAS STX16 GINS1 EXTL3 MYSM1 MMP2 NSDHL SLC2A10 DSTYK EBP STUB1 NR2F1 PORCN MYH7 ATP10A PIGQ PLAA P4HTM SOX11 ARID2 SVBP ACTG1 HYOU1 CDK10 HERC1 SGCG KBTBD13 HACD1 NKX2-1 PIGY SOX5 NEU1 PEX16 CEP57 CSF1R COLQ MTX2 MVK AGPAT2 COL9A3 TARS1 FANCF PEX19 GRIN1 MMP14 PRKACB PPP2R5D PCGF2 PHGDH MED13L NPHP1 ZNF423 ALDH6A1 PAX1 CHD7 ARVCF DACT1 FLI1 SERPINH1 CDC6 HDAC4 TOR1A DLL1 AFF4 SLC16A2 TALDO1 PPP2R3C PIGO BAZ1B MKS1 MYO9A SMC1A DNAJC19 LAMTOR2 FANCL PHF6 WARS2 KCNQ1 NGLY1 HS6ST2 PUS3 MYCN SH3PXD2B KLHL41 POLR1D GNE CDKN1C PIGU EYA1 TAB2 PAH TRAPPC4 KLHL15 RAD50 ATP7A IQSEC1 CD28 PIGW PPARG BUB1B VEGFC NEXMIF TBX1 LONP1 TMEM231 SEPTIN9 FARSB KCNJ1 BCOR FANCI TRMT10A KMT2A FLT4 LOXL3 CHST14 GDF6 CHRND CTNND1 SLC35C1 TCF12 MAP3K20 ZMYND11 VARS2 PRKACA AGTR1 PLOD2 ZNF711 FBXW11 RBBP8 OCRL SEC24C TAOK1 ATP6V1A GTPBP2 GTF2I SETBP1 LHX4 FBLN5 FRRS1L TUBGCP4 SLC17A5 AGT CLTCL1 CRADD SOS2 ARMC5 TELO2 OTUD6B AUTS2 IGF1 TRIM37 CC2D2A SNX14 DDR2 WNT10A CEP55 INPP5E SPECC1L TSHR ALKBH8 SELENON SNAP25 PPP1R15B CHRNB1 UFC1 UPF3B WDR26 GPAA1 PRKAG2 HDAC8 TRIO SGSH CASK C2CD3 XRCC4 CNTNAP2 GRIK2 MTM1 MPLKIP SALL1 GJC2 NTNG1 TCF20 CCDC47 CDH15 NFIB AGRN SNIP1 ADAMTSL2 IARS1 SOX9 PEX3 HIVEP2 MRAS DCHS1 KIF1A DOCK8 CAMTA1 CEP104 SLC5A5 PEX14 RAB11B ZIC2 SMARCA4 RPGRIP1L LARP7 RFXAP PDHB PLCB4 USP7 PIGB POLR1C EIF2S3 GNPTAB DPF2 CSPP1 PMM2 MRPS14 CLTC EIF2AK3 FAT4 SPRED1 COL13A1 DNMT3A TMEM94 LETM1 POLR3A ALG8 EED UBE2A GPC4 COL3A1 SLC39A8 PPP3CA ETFDH USP8 CHRNA7 ERMARD B3GAT3 PGAP1 PEPD PEX7 DDX11 PGM3 CTCF TNFRSF1B IFT57 ERCC4 TAZ ANOS1 LMAN2L TRHR CAMK2G HSD17B4 GRIN2B RUNX2 KCNQ5 CAMK2A AMER1 TMEM260 MAN2B1 KAT6A FGD1 CDC42 ERCC8 ALG12 TSPEAR KAT6B HESX1 MACF1 FOXE1 BRWD3 PAX8 DPM2 RNASET2 ZDHHC9 TGFB3 MTOR CTSA SLC12A6 PIK3C2A PIGG BCORL1 PBX1 CTNNB1 TRIP13 PEX1 COG1 TECR MEN1 SEC24D UBE2T RECQL4 SOST FGF9 ADARB1 ELOVL4 SLC10A7 RAF1 MID2 KIF7 TCTN3 SP7 PDE11A PTEN HOXD13 PIGC SMARCB1 CNTN1 EXOSC9 CSGALNACT1 PACS1 RNF135 SLC37A4 APC CHSY1 CTNND2 PITX2 SMO ALMS1 PHF21A TMEM70 RASA2 ATRIP MYH3 FLII ARID1B MAPRE2 KIF15 VPS33A MAPK8IP3 BUB1 MATN3 TG FANCB HEXB MRPS34 KCNK9 GTF2E2 NOTCH3 BMPR1A SRD5A3 CNOT1 SLC9A7 RREB1 MOCS2 TANC2 CACNG2 NHEJ1 PKD2 KIF4A TRMT5 PRSS12 HIRA ZNF148 NKAP ASAH1 CAMK2B TSHB FIG4 FMN2 NRXN1 SLCO2A1 LIFR A2ML1 RSPRY1 COL9A1 PUM1 COL1A2 PACS2 ARL13B RAD51C LRP4 LMOD3 BRAT1 SLC5A7 PIGV CIITA DUOXA2 POLA1 GAD1 RAB39B PIGL CNP PTF1A POU1F1 IQSEC2 TBX2 EDN1 ROR2 PLOD3 FAR1 RERE TBX22 ECEL1 DLK1 CHD4 PRDX1 RNF168 HYLS1 MAP2K2 CTDP1 MYH8 SH2B1 TAPT1 PKHD1 IFITM5 ERCC3 MIR17HG GDF3 NBAS SLC6A8 GPC1 SMC3 CACNA1C KCNC3 HNMT IYD CUL4B BRIP1 EXOC8 JAG1 EMC1 GALNS PCNT ALG13 B3GALNT2 CAV1 BRPF1 LAS1L TUSC3 SLC1A4 AP3B1 TNIK WAC MEG3 EZR FBXL4 ACADS RTL1 PAM16 ACTG2 LINS1 KIAA0586 WDR4 CLIC2 GJA1 GNS LMBRD1 GALNT2 SH3BP2 CTBP1 BRCA2 MPDZ MCOLN1 RHOA CDH23 TPRKB FGFRL1 SLC2A2 MAP3K7 MPL TCOF1 HGSNAT LZTR1 RFWD3 CUX1 FANCG RTTN FANCA CACNA2D2 COL9A2 EBF3 CEP290 UBE3A ARSB HELLS HP_SHORT_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_COLUMELLA TWIST1 ACTB LMBR1 NAA10 ERF DNMT3A ACTG1 B3GLCT KMT2D KCTD1 KDM6A NALCN ALX3 CREBBP CENPF CTCF SHH HP_DEEP_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PHILTRUM ZIC2 CDKL5 EXT1 MYH8 PRKACB TFAP2A NOVA2 INTS1 SMPD4 SNX14 TRPS1 MGP NAA10 DNMT3A MAP3K7 NRAS EED SUZ12 SLC35C1 DPM2 SHOC2 KCNK4 CREBBP TALDO1 EZH2 OFD1 SMOC1 NBN OCRL EP300 ARID2 NSD1 EFTUD2 CHSY1 HRAS PBX1 PIGS BRAF UBE2A CBL PURA MEG3 SETD5 PIGT RTL1 ATP6V1B2 MED12 PAM16 PPP1CB EBF3 FBN1 KIF11 DLK1 HP_LARGE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOREHEAD STRADA AMMECR1 ARID2 MEIS2 CAMTA1 SPOP FMR1 BMPR1A PTEN PDE4D STXBP1 RNF125 HS6ST2 SRC ODC1 SUMF1 FLNA ATRX LMX1B HP_FACIAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CLEFT WDR35 DYNC2H1 ALX1 SPECC1L IFT80 DYNC2I2 COLEC10 POLR1C EVC RIPK4 DYNC2I1 FRAS1 EVC2 TCOF1 POLR1D HP_POTTER_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POTTER_FACIES ITGA8 FGF20 NPHP3 AGT REN CEP55 ACE PKHD1 AGTR1 HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS WDR35 CLIP2 CR2 JAK2 CYP7A1 TPO PCSK9 GP1BA GUCY2D RAD51 BRCA1 PMS2 PEX12 ACOX1 DIS3L2 HNF1A HNF4A CCDC114 PEX6 CEP55 STAT4 PRF1 GDF1 ATRX SLC29A3 IL23R CTRC CCDC103 CD3D PIEZO1 ABCC8 IFT172 NSD2 DHCR7 CBS ASXL1 GSN HYMAI PEX10 RNU4ATAC IL18BP ARX LRRC6 MET VPS13A FUCA1 MT-TV FOXF1 DCDC2 IL7R ABCB4 JAK3 MLH3 TMEM107 SPTB IRAK4 GAS8 NCF2 GPC3 CDON PEX5 G6PC PEX26 GLB1 XRCC2 SOS1 GP1BB RAD51C NELFA SLCO1B1 TGFB1 SDHD F10 PKLR DYNC2I2 BICC1 CFTR GAA HBG2 CALR SKIV2L NDUFA1 TMEM67 POLG2 NEK8 GUSB ERCC8 FASLG SLC22A5 SLC20A2 RELN DNASE1L3 DNAAF1 KIF20A HLA-DRB1 UQCRFS1 UGT1A1 COG7 PCCB EWSR1 DCLRE1C TMEM70 CARS2 DKC1 SPINK1 CIITA HMGCL TNFRSF13C MAGT1 ENG TET2 TNNT2 VPS45 NDUFAF1 CISD2 MVK TTC37 CDC73 FANCD2 KRT8 TSC2 POLG POMC SLC30A10 MT-TF POLD1 PSAP RAG1 EIF2AK3 NKX2-5 BSCL2 PIGS THPO IL36RN PFKM TNFRSF11A SPEF2 RAB23 PEX2 KCNH1 TARS2 MPC1 BRCA2 TP53 PEPD PRKCSH IL12RB1 RABL3 MPV17 HBB SLC25A20 PKD1 HMBS ERAP1 IGF2R FBP1 RNF43 SERPINA1 TNNI3 LIPA PNPLA2 NSD1 EPB42 KCNJ11 LHX3 TTC7A SLC26A4 NFKB2 STOX1 NBAS DLD RUNX1 DYNC2I1 ZEB2 MEFV NPHP1 HLA-B FGFR2 TNPO3 RIT1 IFT80 COG4 NOP10 WDR19 DDRGK1 DPAGT1 MAD2L2 LPL STEAP3 NAGA CD79A ADA CASR NCF4 INPPL1 RERE MFN2 KIT VPS33B NME8 CLCA4 HPGD PALB2 CD19 DCTN4 MKS1 CCDC151 SUMF1 HBG1 RRAS2 CD96 FAS GALM NDUFS6 UFD1 TCIRG1 ACTG2 TERT PLAGL1 FAN1 DUOX2 TBX19 HK1 GTF2IRD1 PC MYORG ABCC2 DNAAF6 ESCO2 CASP8 UBR1 SLC25A19 ANK1 RAG2 LIG4 MT-TS2 PEX14 HAVCR2 APC B9D1 XYLT1 LIPE PKD1L1 ADAR PMM2 CYBC1 CDKN1B NLRP3 RFX5 DNAH11 ACVRL1 CD70 PTRH2 PHKB INSR MT-ND6 AKT2 RFT1 ASAH1 TNFSF15 SETD2 POT1 ZAP70 HADHA PDX1 VHL PLPBP CAVIN1 NSMCE2 CYBB COX15 STIM1 RARB RIPK1 ALDOB LCAT IL12A-AS1 LMNA ZIC3 PLEKHM1 CBL CFC1 JMJD1C LPIN2 STN1 NDUFV2 IKZF1 SAA1 SLC7A7 SPAG1 ETFA BCS1L ADAMTS3 CD28 CYP19A1 SLC16A1 DGUOK CDKN2C EXTL3 DNAJC19 DZIP1L STUB1 F5 USB1 NDUFS1 MMUT MPI NDUFS8 PSMB4 GALK1 PEX3 DRC1 NEU1 SH2D1A CEP120 MTX2 PIGM AP1S1 TINF2 NDUFB9 DMPK PEX16 RNASEH2A UCP2 SLC4A1 NDUFS7 EFL1 GATA1 GATA6 FECH WDPCP FLI1 HJV ADA2 PPARG CPT2 RPGRIP1L TALDO1 SMAD4 ATP8B1 MPL TMEM216 FANCL STRA6 DNAJB13 NBEAL2 RMND1 CA2 ARSA GNE ATM NPC1 GCDH IFNGR1 KLHL7 RSPH3 IDS SAMD9L UMPS SLC25A4 STAT1 IFT43 CASK PCK1 ARL13B RSPH4A IL2RG HBA1 ABCG5 STAT3 HSD17B10 NCKAP1L CPT1A RPGRIP1 MT-ND1 MLXIPL HFE AGGF1 HMGCS2 CPLX1 PEX1 PTEN CD81 GBA SETBP1 DHFR MT-CO1 MT-ND2 KIF3B SLC17A5 MRPS7 CCDC65 NPHP3 ALAS2 TELO2 SLC25A13 RSPH1 GAS2L2 SNX14 LHX1 TSHR TRAPPC11 NDUFAF2 DNAL1 PRSS1 DYNC2H1 LMNB2 DAXX G6PD TBX1 PEX13 KLF1 TNFSF12 ATP6V1B2 RMRP PHKG2 DYNC2LI1 DNAI2 NLRP1 RASGRP1 CEP290 NDUFAF3 BRAF IL12A CCDC47 FAM111A ADAMTSL2 CDKN1C CTC1 NFKB1 ARL6 SCO1 BARD1 RNASEH2C ALMS1 NDUFA6 MT-TK FLT1 TRAF3IP2 IFIH1 DNAAF3 RFXAP PHKA2 DNAAF5 BPGM GNPTAB ABCB11 NOTCH1 PEX7 SPIB CEL VIPAS39 LETM1 KLF11 ALG8 PTPN3 COL14A1 MMEL1 C1QBP GPC4 BLNK SLC39A8 HADH SMPD1 MSH6 TRIM32 MYC MT-CO3 CTSC ACD SRP54 AHCY ATP6AP2 CTCF LONP1 ORAI1 YARS2 ERCC4 NUBPL APOA1 BTD HNRNPA1 ABCA1 HSD17B4 SLCO1B3 SLC2A1 MT-TW NCF1 IRF8 BTK HBA2 IL1RN FLNC GPD1 BCKDHB ARMC4 CD27 CLCN7 PKHD1 DPM2 JAK1 CD40LG KCNN4 CTLA4 LRP5 GALT CTSA IRF5 SLC12A3 TNFRSF13B BRD4 SDHC FAM111B DBT MC1R ACAD9 IGF2 UBE2T IDUA ERCC6 ATP7B TNFRSF4 DNAI1 TCF4 BLK PCSK1 TRAF3IP1 CCDC39 BCHE TMEM165 SLC37A4 VCP SEC63 CDKN2A SCNN1A HNF1B CPOX RASA2 COG6 CCND1 SBDS BAP1 ELP1 VPS33A PYGL PDGFRA FANCB STAT6 ACADVL IL10 TJP2 MARS1 BBS10 RHAG GPIHBP1 RREB1 DNAJC21 USP18 CD79B PALLD CYP27A1 HIRA TNFRSF1A NBN STK36 CDAN1 WT1 PAX8 TSHB PLIN1 ATP6AP1 NTHL1 SLCO2A1 FANCI DSE COX5A ARG1 RAF1 CLCNKB COG1 MT-TN NLRP12 GANAB CASP10 ABHD5 AKR1D1 CFB UROS PTF1A BBS7 POU6F2 MT-TH NDUFB3 CLEC7A STX11 AGL SCYL1 MDM2 CLDN1 MSH2 DLK1 RAD50 GYPC DLL4 CFAP300 CC2D2A SEC23B SURF1 MYRF TGFBR2 ATPAF2 ATP11C CCDC40 PIK3CA GPC1 PEX19 STX1A RRM2B PAX4 BBS1 BRIP1 NADK2 JAG1 CEP19 GALNS NRAS FADD SAMD9 FGA PTPN11 SLC39A4 MKKS MEG3 KRIT1 MRPL3 BBS4 GPR35 GDF2 BBS12 TTC12 ATAD3A FOXJ1 C4B IL17RA LMBRD1 FOXP3 TERC NEK1 CTBP1 PMS1 SAR1B DOLK GFI1B FAT4 SLC2A2 IL21R ELN CAV1 INS CSPP1 MYD88 HNRNPA2B1 RPS20 HGSNAT STK11 ALPK1 PDGFRB KMT2E LZTR1 TMEM199 RFWD3 SH2B3 PDGFRL PHYH OFD1 ARSB MT-CO2 ITK LYST NOD2 RAD51D AP1B1 NDUFS4 TUFM PUF60 LYRM4 CDKN1A AXIN1 C11orf95 AGA IFT122 CCDC115 LARS1 KRAS NDUFV1 TCF3 BTNL2 RTEL1 NOTCH2 MMACHC EOGT IFT27 GPI CTNS PIK3CD NPC2 KRT18 OTC SP110 FANCM SCNN1G EPCAM FDX2 ASS1 TBL2 MT-ND5 ALG9 MITF EPB41 POU2AF1 DNAH9 TBXAS1 UBAC2 NHP2 APOE GLRX5 TREX1 ABL1 ERCC1 LACC1 LRRC8A LIMK1 SHPK NHLRC2 MT-TL1 CORIN SLC44A1 LBR SPECC1L FMO3 SNX10 C4A TNFRSF1B TNFSF11 CYP7B1 COX10 CIDEC TTC21B RECQL4 PIGA COMT MYPN MYBPC3 HMGA2 ANKS6 MADD CCR1 MED25 GLIS3 ABCG8 ENPP1 TCTN2 FERMT3 BBS9 PRTN3 AUH IQCB1 RFXANK XIAP NOTCH3 CFAP53 AKT1 DNAAF2 SIK3 CDIN1 CDK4 XK HPD MMAA TTC25 CHEK2 HLA-DPA1 ATP7A ACADM XPNPEP3 RAC2 LAT FANCC LDLR IGLL1 RRAS CLPB FOS TRNT1 SPRTN AMACR SC5D SCARB2 TRMU SDCCAG8 TTC8 BMPR1A TMPRSS6 COA8 SFTPC NDUFA11 PEX11B BCR DNAJB11 COX14 SLC25A15 FCGR2A TIMMDC1 RPSA SPTA1 USP9X MUC5B SLX4 FARSA LEMD3 GNAS ITCH ADK TRIM28 HAMP OCLN CD55 ETFB ZMYND10 FGB DHDDS SRSF2 RFC2 BACH2 NR1H4 DNAAF4 RBCK1 NLRC4 TYMP ALDOA CD3E SON CNOT1 CYBA NAGS PNP REST NUTM1 BOLA3 CCBE1 GATA2 MT-ATP6 PSMB9 FANCE NDUFS3 ADAMTS13 NEUROD1 MGMT MNS1 NAGLU MRPS28 MRPL44 MT-CYB HSD3B7 SLC40A1 PROP1 FGG ERGIC1 TPP2 EARS2 GCGR TMEM231 HYDIN RHBDF2 LDLRAP1 MMAB PSTPIP1 POU1F1 MOGS CCDC28B CD247 SLC13A5 HYOU1 BLVRA MT-TQ JAM2 BCKDHA PRDM16 IL2RA MLH1 AGPAT2 TPI1 CENPF FANCF TWIST1 XRCC4 ELANE UNC13D NDUFAF4 ARVCF IER3IP1 RINT1 TSC1 BAZ1B TF KLRC4 KCNQ1 NGLY1 KCNQ1OT1 WFS1 MYCN TERF2IP MCM4 CTNNB1 SEMA4A UQCRB DPM1 RBM8A ICOS RNASEH2B GCLC NODAL PRKAR1A PRPS1 FARSB SAMHD1 IFT140 PCCA SLC35C1 CDKN2B RAB27A B2M SEC24C GALE RBPJ PTPRC PSMB8 GTF2I CCNO LHX4 NDUFB10 COX4I2 PRKCD ALG2 MEN1 PDGFB NEK10 SOS2 CHD7 B3GLCT MCCC1 BMPER TRIM37 STXBP2 IGHM RELA INPP5E GFM1 PCK2 ARHGAP31 HADHB CTSK SGSH C8orf37 MT-ND3 APPL1 MS4A1 FAH TRIP13 ASL GCK AIRE DNAH1 INTU IARS1 CEP83 MRAS PKD2 XPR1 APOC2 SLC5A5 MEGF8 MIF FOXRED1 COG5 WNT3 COG8 ACVR2B MTRR CPA1 BCL2 SDHB GBE1 TMEM126B TWNK ETFDH BBIP1 OSTM1 KCNN3 KCNAB2 POLR3A ANTXR1 SCNN1B RSPH9 TRHR SLC11A2 NPM1 MAN2B1 DDOST INVS SLC25A1 ABCC6 HESX1 TFAM ACP5 IL17F GABRD PTPN22 SDHA MT-ND4 PARS2 AAGAB LTBP3 KPTN LRPPRC MECP2 TSFM MRE11 PIK3C2A SPOP NDUFS2 PPOX IL6 RPGR LYZ LZTFL1 SFTPA2 AP3D1 TKFC PRSS2 TG HEXB HYLS1 CFAP410 ABCD3 CFAP298 SERPINE1 TRMT5 ERBB3 MAFA FBN1 JAM3 IFNG A2ML1 CEP164 HMOX1 NEUROG3 SOX10 C1S H19 SKI MPIG6B DUOXA2 NDUFAF5 MMP21 ALDH7A1 PGM1 FLNB SF3B1 NDUFB11 ALG1 WRAP53 MT-TE CHST14 DHCR24 UROD ACAT1 MST1 DNAH5 RFX6 IL2RB GNA11 IYD LRRC56 ALG13 TKT APC2 IL17RC CFAP221 AP3B1 BBS5 WDR1 B9D2 ACADS LRBA PARN BMP2 RTL1 PNPLA6 APOB GNS TLR4 FH HOXD13 BCL6 FGFRL1 DOCK6 G6PC3 NPHP4 PIK3R1 GNMT HLA-DPB1 NDUFAF8 MCIDAS FANCG NAB2 FANCA COG2 MTTP AP2S1 TFR2 CARD11 CP BBS2 HP_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOMITING NDUFA11 MT-ND4 NDUFS4 NODAL NFIX CYP11A1 SUGCT OTC CDKN1A CPOX NEUROG3 ATP6V0A4 CD46 CTNS MT-TS2 C11orf95 ACADM SLC25A15 SCNN1A SPP1 ATRX ALG11 MT-CO3 SHANK3 FARSB KCNJ1 TIMMDC1 NDUFV1 COL5A2 FLNA DISP1 NDUFS6 ACAT1 ACP2 HNF1A HFE CARD8 CDH23 MT-ND1 HIBCH HNF4A TGIF1 SIX3 MCCC2 ACTG2 CYP11B1 PDCD10 HMGCS2 MT-TF SCNN1G GALE ACADVL CFI F12 ZEB2 SMPD1 ABCC8 CD55 ETFB SI OPLAH DHCR7 COQ2 COL1A1 NDUFB10 SLC25A13 ACAD8 MT-CO1 MT-ND2 NAGS PPOX PNPLA8 ALG3 TNFRSF1A MRPS7 MT-TV OXCT1 PHKA2 SMC1A NLRC4 DYRK1A DGAT1 TYMP SHH CFH GALT ALAD SLC7A7 ASS1 PMM2 PDSS2 MT-ND5 CDKN1B MCCC1 HSD3B2 GLI2 EGFR MT-TC TIMM22 RELA MT-TL1 GFM2 ARG1 NDUFAF2 MLYCD MEN1 STAG2 MT-ND6 SCN2A PYCR2 LAMC2 SSR4 PHKG2 GHSR ALX4 CDON NDUFA1 AVPR2 SAR1B PPM1D MT-ND3 CYP11B2 SLC22A5 CTNNB1 MET PTCH1 NDUFAF5 ELP1 DLL1 BOLA3 ANAPC1 ASL MT-ATP6 NDUFAF3 AVP GAS1 ACY1 BRAF NDUFS3 NOTCH2NLC MT-CO2 MT-TH POLG NDUFB11 ACSF3 NDUFB3 NNT CYP24A1 STAT4 ALDOB TNF GK PCCA GALC COL5A1 IRAK1 NDUFA6 SERPING1 MT-CYB HELLPAR FGFR1 EDNRA FOXH1 MT-TK MC2R NDUFV2 CPS1 ZIC2 SAA1 ALPL GLA ETFA HMGCL TDGF1 MTHFD1 RECQL4 NDUFAF1 MVK KRIT1 LAMB3 MEFV STAR NAXD SLC1A3 SLC6A8 FOXRED1 CDKN2C HLCS HNRNPK CDK8 MTRR HADH ALG8 PSAP TP53 TMEM126B DGUOK MT-TQ ETFDH DBH MMAB NDUFS1 ENPP1 CDKN2B HPRT1 NDUFS8 CPT2 SLC5A1 CLMP MT-TW SLC5A6 MPI BCKDHA RET AQP2 FGF8 ESR1 TCN2 NUBPL SCNN1B D2HGDH BTD ALDH18A1 RARS1 MPV17 MMUT MSX2 COL4A6 ST3GAL5 APC ASPA NDUFB9 HMBS MMAA PHGDH PIGY SLC12A1 FBP1 FOXP3 NDUFAF4 UCP2 ABCC6 NDUFS7 LIPA BCKDHB AIP KCNJ11 TXNRD2 PKHD1 RANBP2 ADNP RRM2B COL4A5 NBAS NR3C2 MRAP AIMP1 DBT CACNA1A STK11 SYT1 LAMA3 KMT2E NDUFAF8 CCM2 TRMU LPL DLD MTTP PCCB IVD COA8 SLC12A3 NDUFS2 HP_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIARRHEA ZAP70 STAT1 VPS13C SUGCT CDKN1A GFI1 IL2RG UCHL1 SPINT2 KCNJ1 CTLA4 TTC37 RAG2 TCF3 CYP11B2 HNF1A SCN9A MT-ND1 SLC19A2 SLC35C1 HNF4A ICOS ARX IDS PPP2R5D HMGCS2 LIG4 RIPK1 PINK1 SCNN1G TFRC PTPRC SP110 OTULIN CD3D ABCC8 TGFB1 SLC25A13 ANTXR2 MT-CO1 PALLD SMARCD2 ALG3 PHKA2 AGA IL7R JAK3 CR2 CHD7 SLC7A7 DCLRE1C MT-ND5 G6PC EGFR IGHM ATP8B1 LCK CFH SDHD NRTN MLYCD DAXX IKBKB MT-ND6 ADAM17 RMRP PHKG2 IL10RA SKIV2L ADA SGSH LRRC8A NBN RET CYP27A1 KIF1B DNASE1L3 AVP NHLRC2 AIRE MT-TL1 CCDC47 POLG EDN3 ACSF3 NNT IRAK1 ITGA2 DNMT3B MC2R PKP1 GLA CIITA BMPR1A RECQL4 RFXAP STX3 ENG USP7 SLC46A1 MEN1 MVK ABCB11 PERCC1 WIPF1 NAXD RFXANK CARMIL2 ITGB3 TNFRSF13C CFHR1 RAG1 HADH ALG8 MADD MT-TF BLNK IL6ST CDKN2B MT-CO3 ALAD SMAD4 CLMP DNAJC6 GDNF SCNN1A TTR SEMA3C AP1S1 CPT1A TREH LIPA ETHE1 BTD IGKC MPV17 APC MCM6 NSUN2 HMBS BRCA1 CD109 SLC12A1 FBP1 BTK TYMP MYO5B GP1BB SERPING1 EPCAM ACADM KCNJ11 TXNRD2 EDNRB TTC7A TNFRSF1A DES IGLL1 CD40LG RUNX1 HLA-B GALT NOD2 RNF113A NR3C2 MEFV WAS CD247 SLC12A3 MT-TW COG4 PRKN MT-ND4 WNT2B PLVAP ELANE TERT KNSTRN PTEN CD79A SCNN1B FOXP3 POLA1 SRP54 CPOX NEUROG3 CASP8 ERCC4 SPP1 CD19 CDKN1B NCF4 COG6 CARD8 DDC ERCC6 TKFC IL21 ACTG2 SI B2M GREM1 MAOA HEXB ITGB4 ACVRL1 SLC5A1 CDKN2A CD55 OPLAH IL6 ABCB4 SRSF2 LCT CD79B BACH2 TET2 PLEC MGME1 MT-TS2 ITGA2B SYNJ1 NLRC4 HPS1 DGAT1 ASAH1 SLC10A2 PMM2 PIK3CD ASXL1 IFNG TSHR GP1BA RFX5 CLCNKB CD3E SON NAGS SLC39A4 IDUA SAR1B PHKB AKR1D1 ELP1 ANAPC1 EFL1 CYP7B1 SNCA ATRX MT-TH STAT4 NAGLU BRCA2 CBL HSD3B7 TLK2 CFHR3 IKZF1 SAA1 ACAT1 ITCH KIF23 TP53 PODXL STAR RFX6 LRRK2 IL2RB CDKN2C GINS1 PALB2 SCN11A ERCC2 SEMA3D HBB PCSK1 SAMD9 DBH HTRA2 HYOU1 MT-TQ MPI WDR1 LRBA IL2RA ALDOB TCN2 F5 GNS DMPK KRAS UCP2 RNF168 SLC9A3 SLC26A3 GATA6 PIGT SREBF1 TNFRSF13B HMGCL AK2 IL21R PIK3R1 RRM2B GUCY2C TMPRSS15 MYD88 ITGA6 C5 MRAP ECE1 HGSNAT ERCC8 MTTP IFNGR1 PARK7 MT-CO2 TCIRG1 ATP7A HP_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHAGIA NODAL PUF60 SQSTM1 HTT TRIP4 ATP7A DLL1 QDPR SETX SLC9A6 ATXN7 ACOX1 IRF5 ATP7B KMT2A KY DISP1 GRIN1 SCN4A NDUFAF2 FUS MAPT TSEN15 VCP SIX3 CTNS ZMYND11 DGUOK NPC2 TOP3A SPG7 BMP4 SEPSECS TAOK1 ATXN2 SLC12A2 SYT14 XRCC1 SPART NEB SETBP1 MYT1L ATXN3 TGM6 ADH1C AFG3L2 SLC25A22 MPZ UBQLN2 TAF1 HPDL TP63 VPS13A GNAQ ASH1L SYT2 MT-TV TANGO2 MYORG SMC1A MSX1 SHH DEAF1 FXN ACTB MT-ND1 GALC FTL TBK1 NGLY1 CHAT BRSK2 LMX1B CHRND SELENON UBB ATP13A2 SNAP25 SACS PSEN1 CDON PLAA IDH2 POLG2 KIT NUP62 ADD3 VAMP1 PTCH1 IRF6 CNTNAP2 RELN GRHL3 SIK1 GRM7 GAS1 IRF2BPL SIGMAR1 C12orf65 CDH15 NDUFS2 POLG AGRN ATP1A3 RNASEH1 NOTCH3 SLC44A1 PANK2 SPECC1L PAX7 KIF1A LRRK2 DOCK8 ACTA1 UBTF MT-TK YY1 PDE8B TPM3 NF2 ARHGAP29 DMPK NOP56 GBA GFPT1 ZIC2 SLC18A3 RAB11A MED12L STXBP1 CHRNE KDM5B TDGF1 TARDBP MED17 LBR RRM2B EPRS1 KLHL41 ITGB4 GMPPA STUB1 ASAH1 GNAO1 NCAPG2 PMP22 NR4A2 OPTN TGIF1 SLC2A3 CACNA1A CLTC CHMP1A CDC73 CARMIL2 REEP1 COL13A1 RLIM POLR3A FA2H MADD ALS2 SDHB DLG1 HIVEP2 TWNK NDUFAF3 DAB1 PPP3CA DYNC1H1 TRPM3 PTS FLCN PIGA GCH1 ZEB2 HOXB1 MT-ND2 UBE3A CYP7B1 KCNAB2 PDP1 FGF8 POLR3B CHCHD10 SYNJ1 YARS2 NOS1 REPS1 FMR1 DCX CHRNA1 NONO ATXN8OS GRIN2B PRNP TK2 KCNQ5 SPG21 CAMK2A MT-TW NDUFA6 LRP12 KIRREL3 COL7A1 CACNA1G SDHD SERPING1 PLA2G6 KAT6B KLHL40 NDUFB8 MACF1 EEF1A2 LAMB2 SCARB2 SCN3A ADGRG1 PUS3 DNAJB6 TBC1D23 SET GLI2 MT-ND5 GEMIN4 HLA-B SDHC IDH1 CIC PRKRA GABRD SLC19A3 MMP1 CCN2 FGFR1 MYPN SRPX2 PCNA TPM2 B4GALNT1 SDHA SNCAIP KIF5A EXOSC9 RERE SEC31A NUTM2B-AS1 SPG11 MT-ND4 DNM1L WFS1 SURF1 TUBB4A HLA-DQB1 CAV1 CCR6 KIAA0319L REV3L CAVIN1 MYMK GCDH CARS2 ABCD1 PSAP VPS35 TTBK2 DNAJC13 FLAD1 MT-ATP6 MID1 MBD5 ACTG2 GLUD2 TUBB6 CRYAB SOD1 ANKRD11 AR MECP2 HLA-DQA1 KCNK9 SLC5A7 MEGF10 SLC52A3 CSNK2B PYGM CACNG2 ALDH18A1 PRPS1 GUCY1A1 SNCA CYP27A1 NDUFA9 MRPS25 CRLF1 NF1 SEMA3E PRKCG MAP2K2 TYMP CAMK2B FIG4 PLEC ECM1 ADAR NRXN1 ERLIN2 LIFR NEU1 DDHD2 PRPH ATN1 ASCC1 FOXH1 LMNB1 PIGN TSEN2 CHD7 SON STAG2 DKK1 DLX4 FBXO7 VAPB TRAPPC12 LMOD3 SKI TSEN54 LINGO1 PLP1 MT-ND6 ATXN1 NECTIN1 APP CDH1 C19orf12 MT-TL1 EIF4G1 EPB41L1 MGME1 GDAP2 PNKD SATB2 MYOT NTRK1 MRPS28 IRX5 SYNGAP1 VAC14 IKZF1 MYH8 SLC25A1 GRM1 HSD17B10 CNTNAP1 MECR KCNC3 RHBDF2 PYROXD1 COLQ NEUROD2 MYH7 GJB1 HPRT1 CLCN1 MFF SLC1A4 SLC6A9 ZC4H2 WAC KBTBD13 PRDM16 FBXL4 MYO9A PFN1 RYR1 MATR3 KCND3 DCTN1 HLA-DRB1 NDUFS1 RARS1 FERMT1 COL4A6 FRG1 ASPA SLC52A2 GNS TBCD PLXND1 NDUFS3 NEK1 TBP ATXN10 KLHL7 ARX RAI1 GBA2 HPCA ADNP GRIN2D DYRK1A COL4A5 TSEN34 ZFYVE26 PIK3R5 OPA1 PABPN1 COQ4 BRAF GIGYF2 HMBS WARS2 HGSNAT PEX16 GRHL2 TIMM8A LAMA2 CUX1 C9orf72 PI4KA CHAMP1 DYSF VARS1 NPC1 MT-ND3 OCA2 NEFH EBF3 TCF4 ADCY6 FARS2 PDGFRA SCO2 SLC25A4 COQ2 HP_NAUSEA_AND_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA_AND_VOMITING CLIP2 NDUFS4 NODAL NFIX VPS13C CYP11A1 SUGCT CDKN1A CD46 CTNS MT-TS2 C11orf95 PPARGC1A ACADM SLC25A15 UCHL1 ATRX SMARCE1 MT-CO3 SHANK3 FARSB PMS2 KCNJ1 KRAS IRF5 NDUFV1 CYP11B2 DISP1 HNF1A HFE MT-ND1 HIBCH BCL10 HNF4A SIX3 MCCC2 CYP11B1 RAB27A STAT4 PDCD10 HMGCS2 SMARCB1 PINK1 MT-TF SCNN1G GALE CTNNB1 CFI CDH23 IL23R F12 SMPD1 ABCC8 GTF2I DHCR7 NDUFB10 LMOD1 IL18BP SLC25A13 MT-CO1 MT-ND2 MSH6 PALLD ALG3 MRPS7 MT-TV PHKA2 SMC1A WWOX EPCAM SHH ALAD MLH3 SLC7A7 ASS1 PDSS2 TBL2 MT-ND5 MCCC1 EGFR MT-TC RELA GFM2 OPTN NDUFAF2 SDHD NRTN MLYCD MEN1 DAXX KCNJ5 MT-ND6 SCN2A UBQLN2 UBAC2 PYCR2 SLC1A3 LAMC2 PHKG2 ALX4 CDON NDUFA1 AVPR2 MT-ND3 SLC22A5 LIMK1 MET PTCH1 DLL1 AKT1 ASL DNASE1L3 FIG4 NDUFAF3 SLC25A11 AVP GAS1 ACY1 MT-TL1 BRAF IL12A ALG11 POLG EDN3 ACSF3 HLCS NNT CYP24A1 CCNF EXT2 MALT1 EWSR1 GALC COL5A1 IRAK1 NDUFA6 C4A FSHR PON2 EDNRA MT-TK MC2R CPS1 ZIC2 GLA HMGCL TDGF1 MTHFD1 RECQL4 TRAF7 NDUFAF1 MT-CYB MVK PMM2 TGIF1 NAXD CDC73 FOXRED1 CDK8 MTRR HADH ALG8 VHL PSAP CCR1 SDHB TMEM126B TREM2 DLEC1 MT-TQ ETFDH ENPP1 CDKN2B MYC CPT2 ZEB2 CLMP SLC46A1 DNAJC6 MT-TW SLC5A6 GDNF SCNN1A TRAF3 SEMA3C PRTN3 RET AQP2 TBK1 LIPA FGF8 SUFU ESR1 TLR3 FUS NUBPL SCNN1B D2HGDH BTD ALDH18A1 MPV17 MSX2 ST3GAL5 APC TICAM1 HMBS ERAP1 MAX MMAA PIGY BRCA1 SLC12A1 FBP1 TYMP CHMP2B NF2 ABCC6 SERPING1 BCKDHB HLA-DPA1 ATP7A CACNA1D RNF6 KCNJ11 TXNRD2 PKHD1 EDNRB TNFRSF1A SDHC NBAS GLI2 CTLA4 RUNX1 HLA-B DLST ERBB4 GALT NR3C2 MEFV ELN SLC12A3 AIMP1 CCN2 CACNA1A FGFR1 DBT LAMA3 HNRNPK HNRNPA1 PTPN22 SDHA PRKN MT-ND4 TRMU DCTN1 LPL VCP SQSTM1 BMPR1A SMAD4 COA8 WT1 ACTG2 NDUFS2 KIF1B PPOX KIT NDUFA11 UNC93B1 FOXP1 OTC CPOX NEUROG3 ATP6V0A4 SPP1 CAV1 CCR6 KIAA0319L TIMMDC1 COL5A2 UNC13A SOD1 FLNA NDUFS6 EPAS1 ACAT1 CHCHD10 ACP2 GLT8D1 CARD8 ACADVL FAN1 CDKN2A IL10 SDHAF2 FAS GTF2IRD1 CD55 ETFB SI EPHA4 FH OPLAH COQ2 COL1A1 SRSF2 ACAD8 RFC2 C9orf72 TET2 NAGS PNPLA8 MGME1 BAP1 PFN1 OXCT1 SYNJ1 NLRC4 DYRK1A DGAT1 CFH CDKN1B HSD3B2 ASXL1 TIMM22 ARG1 FLI1 PDGFB NLRP3 NEK1 CLCNKB STAG2 PON3 SSR4 GHSR KCNA1 TARDBP SAR1B PPM1D NDUFAF5 ELP1 BOLA3 ANAPC1 GATA2 MT-ATP6 NEFH NDUFS3 NF1 NOTCH2NLC MT-CO2 SNCA TGFBR2 MT-TH NDUFB11 NDUFB3 TAF15 DAO ALDOB TNF MYH11 IL12A-AS1 GK PCCA BRCA2 CBL HELLPAR MSH2 FOXH1 NDUFV2 IKZF1 SMO SAA1 ALPL ETFA TP53 TERT MMUT VAPB KRIT1 LAMB3 PODXL STAR LRRK2 SLC6A8 CDKN2C PALB2 RHBDF2 DGUOK SEMA3D TMEM127 PTEN DBH MMAB NDUFS1 PRPH HPRT1 NDUFS8 HTRA2 SLC5A1 MPI PAH BCKDHA GLE1 MATR3 TCN2 MLH1 ANXA11 HLA-DRB1 RARS1 COL4A6 ASPA NDUFB9 ITGB4 PIK3CA TLR4 PHGDH DNMT3A FOXP3 NDUFAF4 MDH2 UCP2 NDUFS7 PMS1 AIP RANBP2 ADNP ATXN2 RRM2B COL4A5 CFAP410 BAZ1B MRAP ECE1 KLRC4 RPS20 PON1 STK11 SYT1 HLA-DPB1 KMT2E NDUFAF8 CCM2 MYLK DLD MTTP ITGA6 SEMA4A BIRC3 PARK7 PCCB IVD PDGFRA ANG HP_NAUSEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA SDHD SLC7A7 CFH GLA ETFA APC VPS13C CDKN1B HMBS CDKN1A MAX CD46 DNMT3A MDH2 SDHB FSHR UCHL1 CPOX SERPING1 PODXL RET SLC1A3 LRRK2 CACNA1D COL5A2 CDKN2C EPAS1 KCNJ5 PKHD1 NAGS VHL RRM2B PHKG2 SDHC TP53 KCNA1 DLST ETFDH PINK1 TMEM127 CYP11B1 SDHA CFI CDKN2B SLC25A11 SDHAF2 ETFB FH HTRA2 MGME1 NF1 DNAJC6 COL1A1 SNCA CYP11B2 POLG IL18BP PRKN MEN1 EXT2 ALDOB TNF LPL COL5A1 ESR1 PARK7 HELLPAR EDNRA PHKA2 SYNJ1 KIF1B PPOX TYMP SAA1 HP_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTIPATION ABL1 CLIP2 NODAL NFIX VPS13C UNC80 CDKN1A PROP1 TPO CTNS UCHL1 DHPS TBX1 ATRX SCNN1G PMS2 FLNA KCNJ1 KRAS SPATA5 DISP1 CHST14 HNRNPH2 HFE PCCA SCN9A MT-ND1 MAPT MLXIPL BCL10 SIX3 CREBBP POGZ MAGEL2 PINK1 OCRL SEC24C MT-TK PSMB8 ATXN2 SMPD1 SPART MT-TE GTF2I DHCR7 LHX4 ADH1C MT-CO1 HPSE2 MSH6 KRT14 ASCL1 EP300 SMC1A KCNH1 EPCAM SHH MLH3 TBL2 OTUD6B MT-ND5 POLG2 DEAF1 SOX10 GABRA3 GP1BB TSHR NGLY1 LMX1B NRTN MLYCD SCN11A TCF4 MT-ND6 UFC1 LAMC2 WDR26 CDON AVPR2 KIT TRIO KRT5 LIMK1 RET PTCH1 CNTNAP2 DLL1 MSL3 SALL1 GAS1 MT-TL1 BRAF KCNJ18 FOXG1 UBE2A MNX1 EDN3 GLI2 NNT TANC2 PCCB EXT2 FGF12 MALT1 HIVEP2 COL5A1 LRRK2 CAMTA1 MC2R GBA MBD5 SLC5A5 ZIC2 GJC2 NKX2-5 TDGF1 GRIN1 SLC6A8 USP7 CISD2 FGFR1 NR4A2 SCNN1A TGIF1 PROKR2 CDC73 COMT SETD1A MADD SDHB MT-TF FDFT1 CD96 MED25 TWNK CDKN2B MT-CO3 PIGS ALAD ZEB2 DNAJC6 UBE3A GDNF TTR SEMA3C KCNAB2 IGHMBP2 AQP2 FGF8 CACNA1S STXBP1 TRHR SIK3 HESX1 PRNP APC HMBS SLC12A2 SOX3 DDOST SLC12A1 TYMP CDKL5 NSD1 TAF1 TXNRD2 FOXE1 EDNRB LHX3 TNFRSF1A PAX8 DES SLC26A4 COL7A1 ELN MEFV GABRD FOXA2 SLC12A3 SPOP MT-TW COQ2 SDHC LAMA3 HNRNPK WAC SDHA PRKN MT-ND4 SNCAIP BRCA1 UGP2 BMPR1A PACS1 RERE PPOX FOXP1 CPOX SLC6A3 NKX2-1 CAVIN1 PIGV COL5A2 VPS35 DNAJC13 UFD1 FLII PHOX2B DDC POU1F1 ACTG2 GLUD2 RAI1 SRCAP POLG NALCN TG STAT6 B2M MECP2 THRA FAN1 MRPS34 DUOX2 SCN10A GTF2IRD1 ZSWIM6 COL1A1 LRIG2 RREB1 RFC2 SETD5 HIRA VPS51 MT-TS2 SYNJ1 MED13 TSHB CDKN1B NRXN1 DSE ATN1 LMNB1 ZMIZ1 MED12 CLCNKB TCF20 STAG2 TH MED12L SKI PPM1D DUOXA2 ELP1 SETD2 OTX2 CNP EIF4G1 IQSEC2 SNCA MT-TH VPS11 CASR JMJD1C MSH2 FOXH1 TLK2 ALPL CHRM3 SH2B1 SCNN1B CHCHD2 LAMB3 TBL1X PODXL TGFBR2 STAR CDKN2C TBCD TRH ARNT2 RRM2B IYD DDHD2 SEMA3D MDH2 P4HTM ARID2 CAMK2B APC2 HTRA2 MT-TQ MEN1 PRDM16 MITF ALDOB MLH1 ADAT3 MMP1 WASF1 DMPK PCGF2 PIK3CA CHD8 KDM1A GALNT2 TBP ODC1 PLA2G6 ARVCF PMS1 DACT1 ATXN8OS FLI1 ADNP DYRK1A AFF4 VANGL1 BAZ1B MRAP ECE1 GIGYF2 DPF2 RPS20 PEX16 WFS1 KMT2A SOX2 NAB2 SMO OCA2 SEMA4A BIRC3 PARK7 CSNK2A1 GATAD2B RORA MT-CO2 PDGFRA SLC25A4 UBE3B HP_GASTROESOPHAGEAL_REFLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROESOPHAGEAL_REFLUX CLIP2 ARV1 NODAL NFIX PUF60 TRAK1 CDKN1A STAG2 ATP7A NEXMIF TBX1 ATRX ARFGEF2 LONP1 GABRG2 MAP3K7 SHANK3 FARSB SLC1A2 IRF5 FCSK KMT2A MUC5B DISP1 MEIS2 SKI PARN GRIN1 CCDC22 HNRNPH2 GLRB ALDH18A1 TSEN15 MLXIPL PSPH SIX3 CREBBP ZMYND11 POGZ PAK1 NECAP1 MAGEL2 CPLX1 OCRL HDAC8 SEC24C TBC1D24 SEPSECS TAOK1 FMR1 GTF2I SCN8A TSPYL1 NSD2 DHCR7 ASXL1 MYT1L SEC23A KIAA0586 RAD21 ASH1L SYT2 EP300 SEMA3E SFTPC SMC1A SHH TBL2 DEAF1 SLC19A2 POLG2 GABRA2 CHAMP1 NPHS1 TERC GP1BB GLRA1 BRSK2 SNAP25 MCEE TCF4 CDON ORC1 NUP62 LIMK1 PTCH1 CNTNAP2 DLL1 MSL3 GAS1 BRAF CHAT SCN3A TOP3A FOXG1 CCDC47 CDH15 AFF4 KCNA2 POLG COG7 AGRN CACNA1A EXT2 GMNN HIVEP2 COL5A1 KIF1A DOCK8 RET BLM GALC YWHAG TERT SMC3 ZIC2 SLC18A3 RAB11A MED12L ADAMTS2 STXBP1 KDM5B VAMP1 SFTPA1 TDGF1 PIEZO2 CENPT LBR USP7 CNTNAP1 TGIF1 CLTC CHMP1A COL13A1 COMT KCNB1 LETM1 HRAS PSAP SMG9 TWNK UBA5 RPL10 AARS1 PPP3CA DYNC1H1 TECPR2 TRPM3 GRIN2D FLCN CDKN2B RETREG1 RTEL1 PIEZO1 SLC46A1 PDHA1 PGM3 CTCF KCNAB2 FGF8 NOS1 EHMT1 SLC6A5 PRKCSH ATAD1 NONO SYNJ1 GRIN2B NUS1 KCNQ5 LTBP4 CAMK2A SLC12A2 DDOST KAT6A KIRREL3 COL7A1 CDKL5 ERCC8 SLC25A24 SLC35A2 FLNA SLC9A6 NSD1 TAF1 EEF1A2 KMT2C WDR26 ADGRG1 SET GLI2 GEMIN4 CNKSR2 ELN CIC STAG1 GABRD MMP1 CAMTA1 SPOP GABRA5 CCN2 FGFR1 SRPX2 ORC4 ACTL6B GNB5 KNSTRN DNM1 KAT6B PYCR1 SCN9A FGFR3 PACS1 RERE SEC31A NTRK2 ERCC6 HLA-DQB1 SLC6A3 CAV1 CCR6 KIAA0319L ALMS1 SH2B1 MYMK COL5A2 PIGN UFD1 FLII STAC3 MAPK1 DDC AMER1 MT-ATP6 MID1 ELP1 MBD5 GABRB2 RAI1 POLR2A MECP2 HLA-DQA1 GNAS MRPS34 ARF1 ATP11A GTF2IRD1 SZT2 SFTPA2 ZSWIM6 ABCA3 COL1A1 CSNK2B RREB1 MSR1 CACNG2 RFC2 TMTC3 HIRA TRMT10C CRLF1 NALCN KCNQ3 DYRK1A TYMP CAMK2B ORC6 PIK3CD CDKN1B ADAR NRXN1 TRIP4 TIMM22 WASHC5 ATN1 SOX5 TSEN2 SETD5 HCN1 CDK19 SON SYNGAP1 ABCD4 SSR4 SLC2A10 ATP6V1A TSEN54 SLC5A7 PPM1D SETD2 NEPRO EPB41L1 FBN1 IQSEC2 KCNQ2 SATB2 DPP9 MAP1B JMJD1C FOXH1 MED12 ITCH NIPBL SLC25A1 ASCL1 WNK1 PIGT FGF12 STN1 GPHN CDKN2C RRM2B RHBDF2 RNF125 DSP SAMD9 DALRD3 ARID2 APC2 SLC1A4 AP3B1 WAC MEN1 AP3B2 PRDM16 FBXL4 TFAP2A CLCN4 CTHRC1 HLA-DRB1 NEDD4L ADAT3 COL4A6 NUP214 TWIST1 ASPA PCGF2 SLC13A5 PHGDH ERMARD PHOX2B CTBP1 SNRPB CHD7 ARVCF SHROOM4 FGFRL1 CHRNA3 CYFIP2 WWOX ASCC1 CDC6 ADNP CACNA1B COL4A5 SYT1 TSEN34 CSPP1 TBX4 BAZ1B MYO9A SEC63 SALL1 LAMA2 PARS2 CUX1 PI4KA FAM13A LRP5 PORCN KLHL7 EBF3 TRAPPC12 ARNT2 SLC25A4 DHDDS HP_ANAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_ATRESIA ABL1 CHRM3 WDR35 KDM6A VANGL1 WNT7A HSPA9 CR2 FKTN SALL4 UBR1 TBX3 HCCS TNFRSF13C GLI3 NBN PQBP1 TBX1 CDH1 DACT1 RECQL4 MEOX1 SPINT2 GDF3 TWIST2 MKS1 CEP120 SIN3A BRCA1 EMC1 USP9X FANCD2 COMT WNT3 DYNC2H1 PIGN EXTL3 MKKS GDF6 BCOR CCDC22 UFD1 BRCA2 FOXF1 SLX4 AMER1 MID1 CDC45 BRIP1 FGFR2 FANCB CTNND1 SEC24C UPB1 TNFSF12 PIGO COX7B CD81 NDUFB11 FANCM RREB1 THOC6 POMT2 RSPO2 PALB2 LONP1 MYCN HIRA DPYS B3GLCT ERCC4 ZIC3 EHMT1 SEMA3E DYNC2I1 LARGE1 FANCF TCTN3 TWIST1 RAD51 FANCI WASHC5 XRCC2 GP1BB ARVCF MED12 HOXD13 CHD7 KMT2D FANCC RAD51C DYNC2I2 KMT2C FANCL NFKB2 PPP2R3C MS4A1 TNFRSF13B FREM2 SALL1 IFT80 FANCE GATA1 POMT1 UBE2T NAA10 DCHS1 RFWD3 INTU CCNQ MNX1 FANCG FANCA NFKB1 SPECC1L PITX2 MAD2L2 GRIP1 CD19 JMJD1C PRKCD FKRP FUZ FRAS1 KIF7 ICOS HP_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALABSORPTION CLCA4 KDM6A CLIP2 PEX11B UBR1 SBDS HPGD AGA DCTN4 RMRP PMS2 CFTR KRAS SPINK5 TCF3 RTEL1 PEX6 SI ZBTB24 STAT4 SRCAP POLG LIG4 TERT B2M PEX2 OCRL MT-TK FAN1 SLC29A3 IL23R CTRC SLC5A1 IL10 FAS GTF2IRD1 NCF2 CD55 MT-TE GTF2I PRSS1 CAV1 PKHD1 DNMT3B DNAJC21 COX4I2 ABCB4 DMP1 SRSF2 LCT ARX CD79B RFC2 MSH6 TRMT5 TET2 MTTP FLNA EPCAM MLH3 SLC7A7 LPIN2 SLC10A2 CYBC1 TBL2 ASXL1 PEX5 SLCO2A1 PEX26 IGHM ATP8B1 PEX13 NEUROG3 CYBA KMT2D UBAC2 SLC39A4 NCF1 SRP54 SAR1B SLC2A2 LRRC8A LIMK1 XRCC4 AKR1D1 CYP27A1 SHPK CCBE1 EFL1 AIRE PRSS2 TGFB1 IL12A CCR6 CCDC47 CYP7B1 CTC1 WRAP53 IL12A-AS1 ENPP1 CTNNB1 PTRH2 PEX3 NHP2 CBL C4A AMACR HSD3B7 MSH2 PTF1A DKC1 PEX14 SAA1 CIITA ADAMTS3 SLC46A1 CISD2 PEX12 ABCB11 CBLIF TERC TGFBR2 RFX6 SLC6A19 F5 EIF2AK3 RFXANK PNLIP GPC1 PEX19 STX1A MADD RFX5 CCR1 DZIP1L ERCC2 RECQL4 BLNK EPHX1 USB1 PCSK1 MPI MT-TL1 SPINK1 GLA CLMP HYOU1 PGM3 PEX10 PARN PEX16 MLH1 TJP2 CDCA7 MCM6 TINF2 NSUN2 NPM1 PIK3CA ERAP1 TLR4 BTK TYMP FOXP3 LIPA PMS1 ACOX2 ATP7A CYBB RFXAP FAT4 JAK2 AK2 IGLL1 APC RUNX1 LBR MYD88 HLA-DRB1 IRF5 BAZ1B MTOR MEFV ELN HLA-B KLRC4 CCN2 BAAT RPS20 NOP10 WFS1 ANTXR2 PIK3R1 SH3KBP1 PEX1 SEMA4A BMPR1A CD79A NCF4 HELLS HP_ANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_STENOSIS NBN KDM6A NSUN2 FOXC1 PIGN TBX3 FREM1 FREM2 PIGO PITX2 SALL1 SNRPB MED12 MNX1 CCNQ CHD7 SPECC1L GRIP1 DCHS1 SMO KMT2D SALL4 AMER1 CDC45 SEMA3E FAT4 FRAS1 RIPK4 LIG4 CDH11 HP_ABDOMINAL_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_PAIN CLIP2 FOXP1 SRP54 STK11 IL6 NPM1 CASK CDKN1A CPOX CD46 GFI1 ZBTB16 SDHB SPP1 NR1H4 DDIT3 PMS2 CFTR STAT5B CDKN1B KRAS SPTA1 EPB42 DIS3L2 CASR EPAS1 STAT3 HFE CARD8 BCL10 TRPM4 PRSS2 MEFV ABCG8 ACTG2 SI APRT STAT4 POLG NOD2 HEXB CFI TRIM28 FAN1 IL23R PTPN22 F12 CTRC OTULIN CDKN2A BMPR1A IL10 PIEZO1 SDHAF2 FAS GTF2IRD1 CD55 FH GTF2I PRSS1 OPLAH PML TSC1 TSC2 ABCC2 BCOR SRSF2 RFC2 MSH6 RET TET2 PALLD PPOX TNFRSF1A TBL1XR1 SDHD WT1 EPCAM HPS1 TYMP ESR1 ABCB4 CFH ALAD MLH3 TBL2 SPTB EDN3 ASXL1 SLC4A1 SOX10 FSHR RARA NKX2-5 EPB41 FLI1 SCN1B CLCNKB NRTN MLYCD DAXX CPT2 G6PD UBAC2 NLRP12 GHSR H19 REST FUS LACC1 LIMK1 CTNNB1 MET SDHA TRIP13 JAK2 KIF1B DNASE1L3 SLC40A1 SLC25A11 IL12A POU6F2 NF1 CORIN ATRX NNT RIPK1 ABCA1 ALDOB GPC3 IL12A-AS1 MALT1 EWSR1 IRAK1 BRCA2 SERPING1 CBL C4A MVK HELLPAR MSH2 MC2R FLT1 EPOR IKZF1 SAA1 GLA SPINK1 MST1 GYPC TP53 GBA NABP1 TGFBR2 STAR MIF GCGR F5 EDNRB CDC73 KIT CEL CDKN2C PALB2 CPA1 VHL CCR1 PTPN3 SEMA3D GNA11 TMEM127 PRKAR1A USP8 MMUT CDKN2B PIGA MYC NLRP3 SMAD4 ABCB11 GDNF SEMA3C MEN1 PRTN3 MITF TREH BMP2 MLH1 PRKCSH GPR35 COL4A6 HBB APC MCM6 ELANE HMBS PIK3CA ERAP1 MAX TLR4 PIGY BRCA1 DNMT3A MDH2 RNF168 PMS1 SCN5A HLA-DPA1 SLC25A26 PIGT CDH23 ANK1 TXNRD2 PKHD1 NUMA1 ADA2 RRM2B GUCY2C COL4A5 STOX1 SDHC CTLA4 RUNX1 HLA-B DLST BAZ1B SEC63 ATP8B1 MRAP ELN ECE1 HLA-DRB1 FIP1L1 MPL KLRC4 SLC12A3 RPS20 POMT1 HLA-DPB1 SCARB2 LRP5 PORCN LPL CLDN16 PTEN SEMA4A BIRC3 KCNN4 TCF4 IRF2BP2 GNE TCIRG1 HP_CHRONIC_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_DIARRHEA ZAP70 JAK3 CHD7 SLC10A2 IL7R ITCH NSUN2 LIG4 PPP2R5D ASXL1 USP7 CASP8 BTK IL2RG RAG2 MVK WIPF1 MADD CARMIL2 COG6 SREBF1 SON IKBKB WAS ETHE1 RAG1 IL21R RMRP SLC39A4 CARD8 IDS SLC35C1 PIK3R1 TKFC ERCC2 IL21 ADA IDUA RUNX1 NBN B2M RNF113A HEXB SAMD9 IL6ST TFRC OTULIN SLC5A1 COG4 CCDC47 ANTXR2 CLMP CR2 SRSF2 LRBA BACH2 TET2 MTTP IL2RA TERT CBL TNFRSF1A ATP7A FOXP3 POLA1 DCLRE1C PKP1 SAA1 ASAH1 HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY WDR35 STAT1 CLIP2 APC TCF4 ATP7A SMAD4 ALMS1 BRCA1 CDKN1B ATP7B COG6 RTEL1 GLRB EOGT FOXF1 CARD8 SLX4 RAD21 PSPH NOTCH1 TERT FANCB PGM3 KRT18 ITGB4 RBPJ ITGA8 GBA SLC12A2 GTF2IRD1 NCF2 GTF2I CBS TGFB1 FANCM ENG PKHD1 ERCC4 MSR1 RFC2 PALB2 KIF3B MYCN PLEC SEMA3E ZIC3 FBN2 PHKA2 TGFBR2 WWOX RHBDF2 CYBC1 TBL2 ACD FGF20 FANCI XRCC2 GLRA1 TRAPPC11 LMX1B ACVRL1 CHD7 ARHGAP31 DYNC2H1 RET SOX2 CYBA FGFR2 RAD51C DYNC2I2 NHP2 FANCL LAMC2 PHKG2 SLC2A10 NCF1 LIMK1 SMAD3 OTX2 FANCE INTU CTC1 SPECC1L WRAP53 BLM RAD51 STN1 YY1 DKC1 IKZF1 ADAMTS2 WNT7A NOP10 DLL4 POLR1C FGFR1 MEN1 LAMB3 TERC SIX6 F5 PROKR2 GPHN JUP CARMIL2 FANCD2 RMRP ARNT2 GREB1L SDHB GBE1 DSP PLA2G4A DZIP1L SLC30A10 BRIP1 DLEC1 USB1 TGFBR1 IARS1 SAMD9 EFTUD2 LIPA PARN KIT CTHRC1 STXBP1 SLC6A5 NOTCH3 GDF2 ATAD1 MMP1 FERMT1 DYNC2I1 FANCF COL4A6 TINF2 NPM1 RPL11 PHGDH SOX3 COL7A1 BRCA2 HOXD13 CYBB DOCK6 RNF6 JAK2 ASCC1 FANCC ADA2 COL4A5 HLA-B TCOF1 TGFB3 ITGA6 BAZ1B KRT8 ELN BRAF IFT80 SDHC STK11 FH PDGFRB TGFB2 LAMA3 UBE2T RFWD3 FANCG POLR1D SDHA FANCA MAD2L2 HESX1 PAH NCF4 SMARCD1 PDGFRA HP_ESOPHAGEAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ATRESIA ITGA6 FGFR2 WDR35 SOX2 ITGB4 EFTUD2 OTX2 FANCD2 SOX3 IFT80 FGFR1 MYCN SIX6 FANCB PROKR2 ERCC4 CHD7 DYNC2H1 RMRP ARNT2 PLEC DYNC2I2 FOXF1 HESX1 FANCL PAH SEMA3E YY1 SMARCD1 DYNC2I1 HP_POOR_SUCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SUCK RTL1 VAMP1 TDGF1 NODAL SURF1 CDON USP7 ATP7A PEX5 SLC25A1 PTPN23 DLL1 DISP1 TGIF1 FOXH1 PTCH1 SIX3 COL13A1 HRAS ACTA1 MKRN3 RHBDF2 GAS1 SNORD115-1 TSEN15 MAP3K20 DLG1 NECTIN1 SHH NDUFAF3 MAGEL2 PLAA BMP4 PTS TBC1D24 SEPSECS SLC5A7 DHCR7 UBE3A PQBP1 TSEN54 PEX2 SLC25A22 HACD1 FGF8 DLK1 SYT2 COLQ SMC1A CHRNA1 MSX1 SLC52A1 NONO ZIC2 ASPA GLI2 TPM3 SNRPN MYL2 ITGA7 STAG2 HTRA2 MEG3 CHAT PWRN1 TSEN2 NDUFB8 UBB SNAP25 SMARCC2 RARS2 DLX4 LAMB2 HADHB HERC2 TP63 DYRK1A TSEN34 NDN TALDO1 PWAR1 TRIO MYO9A SIM1 IRF6 CDH1 BRAF GRHL3 SIK1 FGFR1 SELENON NDUFS2 AGRN TRMU HADHA CHRNE MT-TE UGP2 TPM2 OCA2 NPAP1 RERE CNTN1 ARHGAP29 SNORD116-1 SLC18A3 SCO2 HP_ABNORMAL_RECTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RECTUM_MORPHOLOGY CLIP2 BMPR1A POLE STK11 SALL4 UBR1 IL10RB CYBA RECQL4 POLR1C SPINT2 CDKN2A FCGR2A POLD1 TGFBR2 PMS2 PIGV KRAS COL5A2 BCOR CDK8 MLXIPL SDHB FREM1 SEC23B PIK3CA LIG4 GREM1 FAN1 GTF2IRD1 SMAD4 GTF2I USF3 COL1A1 CCBE1 KLLN RFC2 MSH6 TP53 ENG ITGB2 KIT LONP1 MLH1 SDHC TTC7A RPS6KA3 EPCAM TCTN3 JAK3 MLH3 KEAP1 LTBP4 TBL2 NSUN2 AXIN2 NCF2 NCF1 NTHL1 COX7B RNF43 CFTR NDUFB11 PMS1 DACT1 PIGN CCNQ TGFB1 SDHD RAD51C ELN AKT1 CHEK2 VANGL1 TCOF1 BAZ1B LIMK1 DICER1 SALL1 RPS20 CYBB NAA10 RAC2 MNX1 POLR1D PTEN SDHA HCCS COL5A1 MDM2 MUTYH MSH3 SEMA4A MSH2 INSR PDGFRA KIF7 MKKS HP_RECTAL_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_PROLAPSE BAZ1B CLIP2 LIMK1 LTBP4 STK11 ELN TBL2 NSUN2 BMPR1A GTF2IRD1 SMAD4 GTF2I COL1A1 NAA10 FCGR2A CFTR CCBE1 TGFB1 COL5A2 RFC2 COL5A1 BCOR PTEN MLXIPL INSR RPS6KA3 LIG4 HP_HIATUS_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIATUS_HERNIA NUP133 WDR4 GLIS3 TNXB TCF4 NIPBL ATP7A COL1A1 GLRA1 OSGEP GPHN TPRKB TP53RK COL5A2 SPECC1L CHST14 WDR73 COL5A1 LAGE3 GLRB SLC2A10 SLC6A5 NUP107 PORCN ATAD1 ALDH18A1 TGFB3 ADAMTS2 HP_INFLAMMATION_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE ZAP70 CIITA STAT1 MST1 TNFAIP3 ELANE IVNS1ABP IL10RB STXBP2 ARPC1B FOXP3 CASP10 SLC9A3 HLA-DRB1 WIPF1 TTC37 RFXANK NCF4 CARMIL2 FAS COG6 RFXAP WAS MASP2 MAP3K7 MEFV CARD8 RFX5 IL10RA JAK1 IL21 SKIV2L F13A1 IRGM INAVA RIPK1 NOD2 RTEL1 ABCB1 PSTPIP1 RASGRP1 FCN3 OPLAH CYBC1 TGFB1 GPIHBP1 IL6 RET PRKCD LRBA BACH2 XIAP HLA-B PLCG2 TCF4 GPR35 F13B FERMT1 NLRC4 FASLG HPS1 POLA1 HP_PROTEIN_AVOIDANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_AVOIDANCE SLC25A15 ASS1 CPS1 OTC ASL HP_ANOREXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOREXIA ALPL ACAT1 MMADHC TP53 NPM1 MLX CDKN1B ERAP1 CDKN1A TLR4 TET2 ASXL1 CCND1 BRCA1 KRAS ZBTB16 GBA RARA SLC4A1 ARG1 NABP1 FLI1 STAR HLA-DRB1 STAT5B CDKN2C CD3E DAXX PALB2 TXNRD2 STAT3 PKHD1 HMGCL NUMA1 UBAC2 SLC39A4 SLC19A2 CCR1 PTPN3 RUNX1 STAT4 MYD88 HLA-B MRAP MEFV PRKAR1A FIP1L1 MMUT KLRC4 IL23R CDKN2B PTPN22 CD3D CDKN2A IL10 FAS GLA IL12A PML CD247 MPL CBS SLC46A1 ATRX SCARB2 HLCS NNT MECP2 BCOR MEN1 SRSF2 CALR IL12A-AS1 ATM PALLD BRCA2 IL12B TGFB1 IFNGR1 CBL C4A SMAD4 JAK2 AQP2 TBL1XR1 MC2R AVPR2 IRF2BP2 HP_ESOPHAGEAL_VARIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_VARIX KRT8 DLL4 KRT18 PKHD1 RBPJ GBA CBS SMAD4 NOTCH1 LIPA ENG ALMS1 F5 ATP7B ACVRL1 ARHGAP31 COG6 DOCK6 KIF3B JAK2 EOGT ADA2 PHKG2 GBE1 STN1 DZIP1L SLC30A10 PHKA2 GDF2 HP_INTRACTABLE_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACTABLE_DIARRHEA TTC37 ITGA6 C5 EPCAM ITGB4 SKIV2L PLEC HP_ESOPHAGEAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STRICTURE PGM3 COL7A1 NOP10 SAMD9 TERT NHP2 LAMC2 DKC1 LAMA3 LAMB3 MMP1 FERMT1 HLA-B IKZF1 HP_ZOLLINGER_ELLISON_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZOLLINGER_ELLISON_SYNDROME CDKN1B MEN1 PIEZO2 CDKN2C DAXX CDKN1A ATRX CDKN2B HP_HYPOTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHERMIA MT-ND4 MT-ND6 P4HTM DBH ACADVL MT-TW MT-TL1 PAX8 MT-ATP6 TSPYL1 ATP7A HLA-DRB1 MICOS13 MT-ND1 SCN10A UQCRFS1 MT-ND2 ACADSB SUCLG1 SCN9A GABRA2 BTNL2 TBCK MT-ND3 SLC25A20 HMGCL NTRK1 MMACHC DDC MT-TV MT-TK MT-ND5 SCN11A DGUOK HP_HEAT_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAT_INTOLERANCE NECTIN4 EDAR EDA HNRNPK OCA2 MBTPS2 UBE3A ITPR2 KRT14 MAP2K1 NFKBIA MAP2K2 EDARADD SHANK3 ORAI1 CLDN10 HP_MALIGNANT_HYPERTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_HYPERTHERMIA MYH3 NALCN DNM2 CHRNA1 HSPG2 CHRNG SCN5A EDARADD EDAR TRAF6 ABCA12 CLCF1 MYF6 MTMR14 RYR1 BIN1 CACNA1S STAC3 CHRND ELP1 KDF1 CRLF1 TRAPPC9 SCN4A HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS ALDOB GATM OCRL EHHADH SLC34A1 PC CYP11B2 NDUFAF6 GATA3 UQCC2 SLC4A4 HP_ABNORMALITY_OF_THE_GLABELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GLABELLA CPLX1 ZSWIM6 FGFRL1 RSPO2 ALX1 CNTNAP2 LETM1 INTS8 TASP1 NRXN1 RTL1 NF1 NSD2 CTBP1 DLK1 NBAS SPOP MEG3 HP_MYOPATHIC_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHIC_FACIES BCL11B SPTBN4 CCDC174 PIK3CD PIEZO2 DMXL2 GMPPB KLHL41 LRP12 GFM2 UBA1 SLC6A8 SGCB MYH2 STAC3 RYR1 DPM2 VAMP1 GLE1 MYH7 MYL1 TPM3 SLC52A3 HOXB1 SLC6A9 LAMA2 PURA TPM2 MSTO1 NEB KNSTRN CERT1 ACTA1 TANGO2 EBF3 KCNH1 TAZ HP_LOWER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_SPASTICITY RNASEH2B NT5C2 SPG11 NDUFA4 DNM1L PDHX MARS1 SLC2A1 WDR48 ALS2 NDUFA13 ATXN10 CCDC88C ERLIN1 VPS37A ERCC4 AP4M1 SLC25A15 KIDINS220 MAG MTPAP KIF5A BCOR TRMT10A AP5Z1 NIPA1 KY SAMHD1 ATL1 ABCD1 BTD RTN2 ATP13A2 ERCC6 NDUFA10 SLC33A1 SOX10 SELENOI FUS CAPN1 KIF1A SPG7 ARX CPT1C HACE1 GBA PET100 GBA2 SPART FLRT1 B4GALNT1 CCT5 AP4B1 AP4E1 AFG3L2 MECP2 ALDH18A1 PNPLA6 MICOS13 NDUFA12 SPAST WDR45B SETX HPDL MTHFR PRRT2 ARSI VCP GAN OPA3 PDHA1 KDM5C MAN2B1 ADAR UBAP1 NEU1 DDHD2 TFG GFM2 ZFYVE27 ARG1 GALC SPG21 DSTYK RAB3GAP2 MRE11 PPP1R15B ENTPD1 SDHAF1 CYP2U1 MT-ATP6 SDHA GOT2 SACS FARS2 SYNE1 IDUA ERCC1 VAMP1 C19orf12 COASY INPP5K PEX3 SIGMAR1 C12orf65 PGAP1 TBCE NDUFS8 L1CAM NDUFS1 FA2H LIPT1 RNASEH2C ODC1 REEP2 GBE1 DDHD1 NDUFA9 NDUFV1 ATP6AP2 IFIH1 GJC2 SURF1 PAX3 ARL6IP1 CYP7B1 SDHD IBA57 PIGA ECHS1 FOXRED1 GPT2 PSAP VWA3B CLCN4 REEP1 SLC30A10 SOD1 STUB1 STXBP1 ZFYVE26 TECPR2 NDUFS3 ATRX AMPD2 PLP1 MTFMT TREX1 NDUFAF6 PNP SLC1A4 BSCL2 AP4S1 TACO1 TTC19 SLC16A2 WASHC5 AIFM1 ERLIN2 RARS1 POLG HSPD1 COX15 SATB2 NDUFV2 LYST KLC2 NDUFS7 UCHL1 MED13L RNASEH2A SLC19A3 CACNA1D RARS2 GJA1 ADGRG1 NDUFS2 TOE1 OPA1 FBXO7 ZFR WDR45 NDUFAF2 DNAJC19 COQ5 AIMP1 NDUFAF5 EDNRB SRPX2 PEX16 LAMB1 ACTL6B ERCC8 PI4KA USP8 SDHB INTS8 NDUFS4 GATAD2B NDUFA2 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT TARDBP TREX1 CLIP2 SPG11 TBL2 SLC2A1 PDHB SQSTM1 KCNC3 MAPT DEAF1 ATL1 PRPH ATXN10 SLC6A3 SLC25A15 TBK1 RAD51 CHCHD10 DNAL4 CPT1C GALC CTC1 FLII FUS VAPB VCP SLC33A1 SOD1 RAI1 BAZ1B LIMK1 ALS2 SPG7 ELN RTN2 DCC PRKRA SLC19A3 GTF2IRD1 GTF2I IQSEC2 C9orf72 L1CAM NTN1 RFC2 SPAST PLP1 MT-ATP6 L2HGDH FKTN DPYS WASHC5 ATXN8OS DCTN1 NEFH PLA2G6 GAN NIPA1 AIFM1 HP_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGIDITY RNASEH2B HTT ARV1 MAPT VPS13C ATP6AP2 TRAK1 NTRK2 TMEM240 LRRK2 UCHL1 PODXL PDGFRB GABRG2 SLC1A2 GCDH POLG SAMHD1 ATL1 VPS35 DNAJC13 GLRB CP REEP2 ATP13A2 FGFR1 MT-ATP6 WWOX RYR1 GABRB2 GLUD2 NECAP1 MECP2 PINK1 KCND3 FOXRED1 ATXN2 PNKD SMPD1 SZT2 SCN8A HTRA1 PDGFB CTSD ATXN3 ADH1C STXBP1 BRAT1 SNCA LOXL1 AFG3L2 PTS CRYAB COQ2 SYNJ1 SLC20A2 ADAR FRRS1L CLTC GABRA2 PCDH19 ARSA SLC6A3 GCH1 FTL GLRA1 CSF1R KCNA4 HCN1 CDK19 FBXO7 TH NDUFAF6 SYNGAP1 MYO5A PLA2G6 KRAS ATP6V1A PLAA POLG2 NUP62 TUBB4A RNU4ATAC C19orf12 EIF4G1 SCN3A PSAP RAB39B NOTCH2NLC SPR SCN2A KCNA2 CACNA1A PANK2 RNASEH2C GALC INPP5K ACTA1 DHCR24 PRNP PDE8B YWHAG GBA IFIH1 COASY LDHA PTCD3 EIF2AK2 UBTF DNAJC6 TBP SIL1 FGF12 NR4A2 SLC2A3 GPHN MME DDHD1 KCNB1 RRM2B DAB1 CASK ITM2B SLC30A10 STUB1 JAM2 ARX TWNK AARS1 DALRD3 GRIN2D C9orf72 HLA-DQB1 HTRA2 TREX1 PPP3CA PRRT2 AP3B2 GJC2 SCN1A SCN1B KIF11 FMR1 SLC6A5 ATAD1 ABCA12 ATXN8OS ASPA NUS1 TK2 SLC13A5 DCTN1 RNASEH2A CYFIP2 PARK7 TAF1 PRKCG UBA5 RANBP2 CACNA1B OPA3 CNKSR2 WDR45 SLC19A3 GIGYF2 GABRA5 EEF1A2 GABRA1 PARS2 CHMP2B PRKN SNCAIP ACTL6B JPH3 DNM1 SEMA6B MICU1 LNPK SLC25A4 DHDDS SCN9A HP_SPASTIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_GAIT GJC2 NT5C2 SPG11 APC WDR48 ERLIN2 ERLIN1 SPG7 MFSD2A SPART ATL1 DDHD2 ARL6IP1 SLC25A15 ZFYVE27 CACNA1G ARG1 CYP7B1 AMPD2 ALDH18A1 C19orf12 KIF5A DSTYK CPT1C KCNA4 AP5Z1 BSCL2 REEP1 DDHD1 ALS2 RTN2 HSPD1 CYP2U1 REEP2 WDR26 SLC33A1 FBXO7 ZFR SHMT2 KIF1A ZFYVE26 TECPR2 GBA2 KCNA1 SLC39A14 MECP2 PLP1 B4GALNT1 PGAP1 UBA5 CCT5 SPAST USP8 ATAD3A TACO1 WASHC5 ARSI VCP SACS NIPA1 FARS2 ATP6AP2 VAMP1 HP_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_ATAXIA HTT SCYL1 MT-ND4 SQSTM1 TCF4 TUBB4A ATXN10 CCDC88C SYNE1 RNF113A FDXR TMEM240 LARS2 PODXL SETX PPP1R15B MTPAP AP1S2 WWOX DNAJC3 POLG CTBP1 AP2M1 PSAP ALDH18A1 ATCAY MT-ATP6 RFC1 ARCN1 NTNG1 GABRG2 PAK1 CAPN1 BEAN1 SPG7 IQSEC1 GTF2E2 GTPBP2 IFRD1 TGM6 THG1L PNPLA6 NUS1 HPDL AFG3L2 EEF2 MT-TV VPS51 SACS TANGO2 RUBCN TWNK PRKCG ANO10 PDYN FXN ADAR CHAMP1 PEX10 PCDH19 NARS1 MT-ND1 ARSA GCH1 CACNA1A RFX5 DEAF1 MRE11 DKK1 ITPR1 TH PMPCA ABCA2 PRNP POU3F4 GPAA1 PMP22 PLD3 BRAT1 POLG2 NUP62 ATP1A2 TRIO CIITA MT-ND6 MPLKIP FLVCR1 MT-TL1 TPP1 ATXN3 GRID2 UBA5 GDAP2 SCN2A SPTBN2 ATAD3A SIL1 GRIA2 UBTF MT-TK ATN1 ATP1A3 MARS2 MAB21L1 ADSL RAB11B RNU12 VLDLR KIF1C RFXAP EIF2AK2 RRM2B KCNC3 ELOVL5 ERCC3 EIF2S3 DNAJC6 STUB1 GRM1 LMNB2 MECP2 MME MPZ FAT2 FA2H CUL4B ATP13A2 TECPR2 ERMARD BSCL2 HLA-DQB1 CLCN2 NOP56 SCN1A MT-ND2 HERC1 CACNA1G TMEM106B PDP1 UBE3A UROC1 KCND3 ERCC2 VPS13D SCN1B RFXANK FMR1 TARS1 ATXN8OS GTF2H5 MT-TW PCNA MAN2B1 FGF14 PLA2G6 DOCK3 GABBR2 SLC9A6 GBA2 TBP SLC52A2 SCARB2 APTX WDR26 CAV1 HSD17B4 OPHN1 MT-ND5 C12orf4 GJB1 CDKL5 STXBP1 PIGG SLC19A3 COQ2 SLC9A1 GABRA1 COA7 ELOVL4 PRRT2 SYNJ1 ATXN2 CACNA2D2 MT-ND3 MTTP SLC18A2 EBF3 TRPC3 CP PEX6 SLC25A4 CWF19L1 SCN9A HP_BRADYKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYKINESIA HTT MAPT VPS13C EIF2AK2 CHCHD2 LRRK2 UCHL1 DNAJC6 SLC6A3 PODXL FTL EARS2 PDGFRB NR4A2 SLC2A3 GBA POLG ATL1 SLC39A14 VPS35 DNAJC13 HCN1 KCNC3 RRM2B TPM3 SLC30A10 PANK2 GLUD2 JAM2 GABRG2 TWNK PINK1 PTS ATXN2 HTRA2 PRKAR1B NEB PDGFB DNAJC12 ATXN3 ATP5MD RAB39B ADH1C KBTBD13 EIF4G1 TTC19 PPP2R2B SCN1A SNCA VPS13A SYNJ1 ATP6AP2 SCN1B FMR1 COQ2 MYORG SLC20A2 SCN9A ATXN8OS TK2 KLHL41 DCTN1 PCDH19 ACTA1 STX1B PET117 TBP GCH1 PRKRA PLA2G6 PRNP ADGRV1 CSF1R ATP13A2 FBXO7 PARK7 TH TAF1 POLG2 ATXN1 WDR45 STXBP1 C19orf12 GIGYF2 PDE8B MYPN GABRA1 SPR SCN2A TPM2 GABRD PRKN ATP1A3 SNCAIP JPH3 TACO1 MECP2 FARS2 COASY SLC25A4 DHDDS HP_NEUROMUSCULAR_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROMUSCULAR_DYSPHAGIA KBTBD13 ACTA1 TPM3 NEB MAPT KLHL41 GALC FARS2 COQ2 TPM2 MYPN HP_BILATERAL_TONIC_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE JRK MT-ND4 CLN8 PIGW ATP6AP2 ALDH7A1 GNB1 PGAP3 MT-TS2 LONP1 DMD MT-CO3 KCNMA1 SLC9A6 PRPS1 RELN GDI1 STAT3 KCNQ2 TXN2 STX1B NIPA1 SPATA5 AP2M1 KCNA1 KCNQ3 SCN2A BTD GRIN1 HCN1 VPS53 AP3D1 THOC2 EPM2A MT-ND1 TSEN15 ABCC8 PSPH YEATS2 MBD5 TREM2 PIGQ ZMYND11 GABRG2 MARCHF6 SIK1 SAMD12 EFHC1 MT-TF PDX1 GABRA1 SETD1B ARHGEF6 SP110 CPA6 TBC1D24 SEPSECS TAOK1 GBA CACNB4 CACNA1D RPS6KA3 MYT1L TMEM106B COQ2 SCN8A CSNK2B GABRD CILK1 AFG3L2 CACNG2 MT-CO1 MTHFR PCDH19 GRIN2A PSEN1 VPS13A ASH1L GABRB3 MT-TV CLTCL1 DLG3 CEP85L SCN1A SCN9A PNKP CUX2 CLCN2 CAMK2B PCYT2 PDSS2 CHD2 FIG4 CHMP2B SQSTM1 DEAF1 MT-ND5 ADGRG1 RNF13 SRPX2 MT-TC NARS1 MT-TL1 UPF3B SLC25A22 GRN BRSK2 PSAP TSEN2 ADGRV1 LBR KCNJ11 USP9X MT-ND6 IQSEC2 PYCR2 ALDH5A1 TSEN54 PIGV CERS1 SLC22A5 GAD1 PIGL SETD2 GCK VCP MT-ATP6 GPAA1 GRIA3 CPLX1 SCN1B EPB41L1 FOXG1 GYS1 MED12 MT-CO2 NEUROD2 CDH15 PURA MT-TH ACSL4 MAPT NEK1 GAMT TRAPPC11 VAMP2 KIF1A CERT1 DOCK8 GRIA2 SYNGAP1 MT-TK CDKL5 SLC2A1 RAB11A MED12L KCTD7 STXBP1 KDM5B NHLRC1 MT-CYB ASAH1 PIGT ZNF81 PGAP2 CLTC ZNF142 PAK3 GPHN SMC1A PIGP FA2H SLC12A5 SYP MECP2 SARDH TRIM8 HIVEP2 EXOC8 GPT2 PRRT2 MT-TQ LAMC3 MID2 CACNA1H PPP3CA DYNC1H1 BUB1B TRPM3 SLC6A1 APC2 AGTR2 ZNF711 SLC1A4 MT-ND2 PDHA1 TUBA8 MT-TW ATP1A2 HERC1 RPL10 WAC C9orf72 CNKSR2 PIGY STARD7 DMXL2 CNTN2 CLCN4 POLG RORB DNM1L ALG13 ST3GAL5 GNAO1 GRIN2B FRRS1L ASPA KCNQ5 CAMK2A TBCD MAPK10 ZNF41 PHGDH KIRREL3 HACE1 PTCHD1 CSTB TSPAN7 RAB39B ACADM NSD1 SLC9A7 GABRA5 EEF1A2 COX8A FRMPD4 WDR26 SETD1A PUS3 CASK DYRK1A USP27X ARX TSEN34 INS SET CXorf56 LGI1 PIGO CIC PIGG COQ5 TMX2 DHX16 SLC25A19 DNM1 CUX1 CHAMP1 HNRNPU TANGO2 IL1RAPL1 MT-ND3 FTSJ1 HCFC1 UBE3A TCF4 MICAL1 NDUFA4 DHDDS HP_LIMB_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_ATAXIA PDYN MME ATXN8OS ANO10 COX6B1 SQSTM1 FXN KCNC3 MAN2B1 SYNE1 PEX10 ELOVL5 CXCR4 TMEM240 ATXN10 SETX FGF14 WWOX SCARB2 GRID2 ATXN1 POLG TBP FAT2 ITPR1 PRKCG APTX RFC1 TBC1D23 PLD3 STUB1 JAM2 SCN1B CAPN1 BEAN1 RTN2 GJB1 TPP1 KCND3 EEF2 GBA AFG3L2 SLC9A1 CLCN2 SYT14 XRCC1 NOP56 NKX6-2 ABCD1 UBA5 ATXN3 TGM6 ELOVL4 CYP7B1 MSTO1 FGF12 CSTB ATXN2 SIL1 PMPCA ATN1 PRICKLE1 RUBCN PRNP SPTBN2 CP VAMP1 WASHC5 COQ2 HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION RNASEH2B HTT CLIP2 MAPT VPS13C ATP6AP2 SQSTM1 GPHN PPP2R2B SNCB TMEM240 GAMT LRRK2 UCHL1 SLC6A3 PODXL CTSF FTL PDGFRB KIF5A VCP NDUFS7 AP5Z1 POLG A2M SNCA SAMHD1 ATL1 VPS35 XPC DDB2 CTC1 DNAJC13 HCN1 BAP1 FUS CP ATP13A2 TPM3 TOMM40 TREM2 CDKN2B GLUD2 SLC6A5 GABRG2 ARHGEF9 JPH3 PINK1 PLP1 GRN HPRT1 ATXN2 GLRA1 GTF2IRD1 TRPM7 GTF2I FLRT1 NEB HTRA1 PDGFB TMEM106B DNAJC12 ABCA7 ATXN3 ATP5MD TSEN54 ADH1C MECP2 GM2A LYST RFC2 PSEN1 AFG3L2 VPS13A DPYS PTS SLC2A1 PCBD1 COQ2 SYNJ1 MYORG SLC20A2 SCN9A C19orf12 MTHFS ADAR DCTN1 TBL2 CHMP2B PDE10A PCDH19 TWNK STX1B PET117 MITF GCH1 PRKRA TBK1 TBC1D24 CHCHD10 LIPT1 GLRB CSF1R FBXO7 TH PRNP PLA2G6 PLAA POLG2 XPA PSEN2 SLC18A2 LIMK1 ATXN1 CLPB CYP27A1 BOLA3 POT1 COASY APP EIF4G1 UQCRQ SLC39A14 SIGMAR1 SPR CLN6 DCAF17 SCN2A PURA NDUFA1 DNAJC5 MGMT GABRD NOTCH3 PANK2 RNASEH2C TACO1 GBA UBTF PDE8B ATP1A3 PRDX1 ATXN7 IFIH1 SCN1B ACAT1 TREX1 PLAU EIF2AK2 CHCHD2 ERCC3 DNAJC6 TBP ZNF592 EARS2 NR4A2 SLC2A3 TERT FA2H HFE KCNC3 RRM2B ALS2 OPA3 SLC30A10 C9orf72 SOD1 JAM2 TAF1 ERCC5 ALG13 SERAC1 HLA-DQB1 CAT HTRA2 PRKAR1B ACD SLC6A9 RAB39B KBTBD13 XPR1 TTC19 SCN1A ETHE1 L2HGDH FMR1 RARS1 CLN3 TARDBP ATXN8OS TRAK1 TK2 SPG21 RBM10 KLHL41 CDK4 KLC2 ACTA1 ERCC2 RNASEH2A ATXN10 WDR73 ADGRV1 NDUFAF5 MMACHC SERPINI1 PARK7 CDKN2A ASNS GBE1 SPG11 ZFYVE26 BAZ1B HEXA WDR45 ELN STXBP1 GIGYF2 MYPN NOS3 SNORD118 GABRA1 SYT1 MC1R MICU1 TERF2IP TPM2 MPO PRKN SORL1 TANGO2 ERCC4 SNCAIP FKTN NAGA TSEN2 FARS2 APOE SLC25A4 DHDDS HP_CHOREA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREA DCPS IQSEC1 HTT MT-ND4 HSPD1 SLC2A1 SURF1 FOXG1 GPR88 SLC6A3 SETX FTL MBOAT7 PDGFRB AP1S2 NADK2 GCDH C12orf4 AP2M1 KCNA1 CLIP1 NDUFA13 CP DDC MT-ATP6 TSEN15 MBD5 PIGQ ZMYND11 NDST1 CACNA1B FUS SIK1 JPH3 MECP2 MED23 ARSA MRPS34 SEPSECS TAOK1 PNKD GTPBP2 CRBN PDGFB MYT1L CSNK2B ATP5MD MRM2 FRRS1L GM2A CACNG2 MICOS13 PRSS12 VPS13A ASH1L PRRT2 NDUFA9 SLC30A9 PTS MT-TV GRIN2B SPR CRADD MYORG SLC20A2 OPA3 POU3F3 NKX2-1 PNKP ADCY5 CAMK2B PDE10A DEAF1 FMN2 PIGN QDPR ADA2 FXN ADAR WASHC4 MT-ND1 PUM1 SLC45A1 SLC25A22 NGLY1 TRAPPC11 BRSK2 TSEN2 MRE11 PRNP TSEN54 PLP1 NUP62 ELP2 TUBB4A FBXO31 SLC25A42 ERCC6 MT-ND6 ATXN1 GRIK2 SARS1 MT-TL1 METTL23 IRF2BPL DHX30 SCN1B EPB41L1 PSAP SIGMAR1 NEUROD2 DCAF17 CDH15 NDUFS2 HSD17B10 NDUFA1 TSEN34 GAMT PANK2 GABRA2 VAMP2 KIF1A ATP1A3 KDM5B CARS2 DOCK8 GRIA2 SYNGAP1 UBTF MT-TK ATN1 CDKL5 ZC3H14 ATXN7 RAB11A MED12L STXBP1 NSUN2 CTDP1 GRIN1 KIF1C EIF2AK2 MMUT SLC6A8 ATM SCN8A TBP GNAO1 CC2D1A SLC2A3 NAXD CLTC CHMP1A ZNF142 MECR RHOBTB2 PIGP HNMT ALS2 TRIM8 HIVEP2 TAF1 MED25 NDUFAF3 PNPT1 TYROBP PPP3CA DYNC1H1 B3GALNT2 UGDH TRPM3 C9orf72 HPRT1 TUSC3 PGAP1 GCH1 MT-ND2 DLAT TREM2 MAN1B1 ATP1A2 SCN2A TNIK EZR EDC3 GUF1 XPR1 FBXL4 GJC2 GRIA4 DMXL2 CLCN4 LINS1 SUOX AARS1 LMAN2L POLG COX20 ST3GAL5 TNFAIP3 KCNQ5 CAMK2A AIMP1 MT-TW KCNMA1 KIRREL3 ST3GAL3 NDUFAF5 ARX PLA2G6 ATP7A NDUFB8 ACP5 EEF1A2 APTX TRAPPC9 CASK XPA SYT1 SPG11 PITX3 HCFC1 SET RSRC1 PIK3R5 MT-ND5 CLPB GNAS CIC SPOP IREB2 TECR MICU1 ERCC2 CUX1 ACAT2 CHAMP1 PDHA1 DYSF ATXN2 CACNA2D2 MT-ND3 KIF5A PIGC TCF4 SCO2 HP_PROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_CEREBELLAR_ATAXIA PRDM8 PDYN NDUFA4 SURF1 SQSTM1 ANO10 NDUFA13 WFS1 KCNC3 ATXN10 PPP2R2B TMEM240 SLC25A15 MTPAP CACNA1A MME ECHS1 FOXRED1 TTBK2 FUS RFC1 VCP CLCN4 ATP13A2 NDUFA10 NDUFS3 PET100 MVK MTFMT NDUFAF6 ATXN3 TGM6 TACO1 NDUFA12 DARS2 TPP1 EEF2 AUH KCND3 MSTO1 PDHA1 PRKCG COX15 TARDBP NDUFV2 NDUFS7 PEX10 COQ8A TBK1 SLC19A3 PRNP CHCHD10 ATXN1 ATP6V0A2 GBA2 DKK1 SLC52A2 SACS NDUFS2 HTT SDHA GJB1 NDUFAF2 COQ2 NDUFAF5 NDUFS8 C9orf72 NDUFS1 ELOVL4 GLS SLC44A1 LIPT1 ATXN2 SCYL1 NDUFS4 SPTBN2 NDUFA9 ATXN8OS MT-TE ATN1 NDUFV1 ATXN7 MARS2 NDUFA2 PEX6 KCTD7 HP_DYSDIADOCHOKINESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSDIADOCHOKINESIS VLDLR CCDC88C SQSTM1 ATXN10 PPP2R2B XRCC4 CLN5 GRM1 PDGFRB ATXN7 TTPA PLA2G6 MRE11 ATXN1 FA2H TUBB4A ITPR1 DAB1 RFC1 CARS1 POU3F4 SLC30A10 WDR81 KCNJ10 FMR1 SLC18A2 SPG7 GJB1 PDE8B SLC9A1 XRCC1 GRID2 PDGFB NFASC ELOVL4 AFG3L2 MSTO1 TTC19 SPTBN2 POLR3B ATXN2 ATN1 SLC20A2 ABCB7 HP_MIGRAINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE SH2B1 DNM1L MLX SLC2A1 ENG AIP MT-TS2 C11orf95 MT-CYB TWNK PGK1 SMAD4 FGFR3 MT-CO3 FGFR2 TWIST1 TGFBR2 NFIX PMS2 NDP SLC6A19 SLC1A3 KRAS COL4A1 RRM2B MT-ND1 CCR1 NF1 MT-TF STAT4 CACNA1A MT-TQ SMARCB1 PEX11B ACVRL1 FAN1 IL23R GP1BA IL10 FAS SCN1A GP9 TREX1 MT-TW KCNA1 MT-CO1 MSH6 GRIN2A SMAD3 IL12B ESR1 KCNK18 MLH1 MT-ND6 MT-TK ADAMTSL1 MYORG GDF2 PRRT2 EPCAM GP1BB PDGFB MLH3 POLG MT-ND5 ADA2 PIK3CA ERAP1 TLR4 ATP1A2 SRPX2 MT-TC GABRG2 RELA MT-TL1 GPR101 PMS1 NLRP3 APP UBAC2 TNFRSF1A MT-TV POLG2 OPA1 MYD88 HLA-B MEFV KLRC4 GATA2 SPOP RPS20 IL12A CSNK1D MT-CO2 MT-TH ACSF3 RNASEH1 MT-ND4 NOTCH3 TNF COL3A1 IL12A-AS1 AMACR HTR1A C4A SEMA4A MVK BMPR1A PDGFRB MSH2 EDNRA STIM1 NOP56 SLC25A4 HP_MIGRAINE_WITH_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE_WITH_AURA NOTCH3 TNF SCN1A PRRT2 ATP1A2 ESR1 KCNK18 EDNRA CSNK1D TREX1 CACNA1A HP_TRUNCAL_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_ATAXIA VLDLR ANO10 COX6B1 EIF2AK2 ATP2B3 PEX10 ADGRG1 HARS1 PPP1R15B FGF14 SLC9A6 MECP2 SLC1A3 GBA2 GRID2 ATXN1 AP2M1 ATP1A3 ATG5 COG5 POLR3A CACNB4 DAB1 ATCAY APTX HIBCH VWA3B SLC30A10 CEP120 WDR81 STUB1 SHMT2 KCND3 EEF2 SYT14 NOP56 NKX6-2 ATP8A2 ABCD1 ATXN3 KCTD7 NAT8L CYP7B1 MSTO1 TRAPPC11 DARS2 ITPR1 SPTBN2 UROC1 CWF19L1 SACS EBF3 ATN1 PRNP HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM DCPS IQSEC1 RNASEH2B KDM1A CCDC174 UNC80 PUF60 WDR62 SOX4 RAC3 ACER3 AP4M1 FDXR PRMT7 KIDINS220 LONP1 LYRM7 KCNQ2 ARID2 RB1 PRPS1 FGFR1 BCOR TRMT10A AP5Z1 C12orf4 SPATA5 SAMHD1 BICD2 KCNA1 GRIN1 TUBB GMPPB MT-ND1 TSEN15 KANSL1 PIGQ NEDD4L ZMYND11 MRPS22 POGZ SIK1 SLC25A10 TBC1D20 PYCR2 FRMPD4 RAC1 SEPSECS TAOK1 GBA ATP6V1A NEXMIF GBA2 KIFBP DHCR7 SETBP1 ASXL1 TGFB1 MYT1L FRRS1L MT-CO1 TAF1 ASH1L NFIA TBCE PIGP PRUNE1 CRADD SLC1A2 POU3F3 COG2 SPTAN1 BRF1 DEAF1 OTUD6B MT-ND5 COX7B WASHC4 CTNNA2 SLC45A1 GFM2 NRROS GFM1 SLC25A22 BRSK2 DYNC1I2 DYNC1H1 RUSC2 PPP1R15B TCF4 MT-ND6 CYP2U1 CARS1 GOT2 SACS NF1 WDR26 AKT3 KCNK4 PLAA FBXO31 SHMT2 C2CD3 GRIK2 SARS1 RELN RNF13 GRIA3 NHLRC2 GRM7 MBTPS2 SCN1B MT-TL1 FOXG1 POMT1 C12orf65 CDH15 COG7 SNIP1 NARS1 KIF5C NARS2 RNASEH2C HIVEP2 IFT52 DCHS1 KIF1A KIF2A CARS2 DOCK8 HPDL UBTF YY1 CDKL5 ZC3H14 IFIH1 RAB11A MED12L STXBP1 GJC2 NSUN2 STAG2 PIGG KDM5B POMT2 GRIN2A PDHB NOVA2 USP7 EPRS1 IGF1R PIGB DIAPH1 EIF2S3 TYROBP PTPN23 MOCS1 CNTNAP1 DPF2 TUBB2B YWHAE GNAO1 TUBB3 IBA57 NFIX SIX6 GLUL GLRX5 PIGA CLTC CHMP1A ASXL3 RHOBTB2 SMC1A FA2H VWA3B SMG9 ATP13A2 WDR73 MT-TF FDFT1 LARGE1 MED25 GPT2 SSR4 UBA5 KATNB1 PPP3CA TECPR2 TRPM3 FLCN AMPD2 ERMARD SLC1A4 MT-CO3 PGAP1 ZEB2 POLG2 PDHA1 UBE3A MAN1B1 SMARCD1 AHCY SCN2A AP4S1 SLC5A6 PIK3R2 EDC3 TARS2 POLR3B DMXL2 ZBTB20 PAFAH1B1 AP4B1 REPS1 TUBB2A EHMT1 AIFM1 DCX EFNB1 LMAN2L NONO HSD17B4 YIF1B GRIN2B KCNQ5 SPG21 CAMK2A GABRB1 EXOSC8 TRAPPC9 KCNT1 KIRREL3 HTRA2 PDHX HACE1 ARHGAP31 CDC42 SLC25A24 OSGEP ST3GAL3 SLC35A2 MACF1 PSAP GABRA5 EEF1A2 DAG1 SCN3A KMT2C ASNS SMARCE1 DDX3X PUS3 RALGAPA1 RAB3GAP2 TBC1D23 CEP120 SET WDR81 ARID1A RSRC1 CTNNB1 PPP2R1A ZSWIM6 ZFR CIC MT-TW COG4 EXOC7 ACTL6B TECR HNRNPK SMARCC2 ADARB1 WAC TBCK MT-ND4 PARS2 SOX3 UGP2 MAP11 PIGC FBXW11 SMARCB1 NKX6-2 TSEN2 TRAPPC6B FGFR3 FKRP TMCO1 RAB18 NT5C2 SPG11 ATP6AP2 ACO2 MBOAT7 SYNJ1 DOCK7 EXTL3 CSPP1 COG6 USP9X CLIP1 ARID1B MAPRE2 VPS53 POLR3A NANS WWOX MAPK8IP3 MBD5 ZNHIT3 KAT8 NDST1 WT1 NALCN ANKRD11 POLR2A MED23 NUP188 ZNF462 CRBN POLR1C CSNK2B AP4E1 MOCS2 TRRAP CACNG2 DARS2 WDR45B PRSS12 ARSI AHDC1 ZNF148 VPS51 MT-TS2 PNKP MEF2C DYRK1A CAMK2B ADAR FMN2 ATL1 DDHD2 ALX4 ATN1 PRKDC ZMIZ1 PIGN APC2 PSAT1 SON CEP290 CNOT3 SOX2 SMARCA4 TAF2 NDUFA2 FAT4 TSEN54 TUBGCP2 BRAT1 TTI2 GAD1 SHOC2 CDK13 METTL23 CNP EPB41L1 NEUROD2 KCNT2 MT-TH VPS11 KCTD7 AIMP2 MAF VAMP2 RERE SYNGAP1 MAP1B COASY FKTN PPP2CA EIF2AK2 RSPRY1 EARS2 LSS PDE6D CC2D1A SIN3A SLC6A8 QARS1 EMC1 CRPPA TBCD DARS1 HNMT CUL4B PCNT TUBA1A TRIM8 NR2F1 NADK2 EXOC8 ASPM DDX6 MDH2 ZFYVE26 SOX11 B3GALNT2 BUB1B TMTC3 GFER TOE1 TUSC3 TREX1 MOGS SLC6A9 MAP2K2 SVBP MT-TQ CDK10 TNIK EZR FBXL4 TMEM106B ERLIN2 GRIA4 SRPX2 CCDC88A COPB2 CLCN4 AP3B2 LINS1 ADAT3 RARS1 CLP1 PCGF2 AIMP1 PHGDH RAB3GAP1 MFSD2A ALDH6A1 RNASEH2A IER3IP1 RAI1 RNU4ATAC ADNP CASK TSEN34 ARX TMX2 FANCD2 HK1 PAX6 GPSM2 EBP CUX1 RTTN CHAMP1 RMND1 VARS1 PIGU OCA2 KLHL7 PCLO ARFGEF2 STAMBP PAH TREM2 RORA MT-CO2 ARNT2 LNPK HIC1 UBE3B HP_MIGRAINE_WITHOUT_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE_WITHOUT_AURA KCNK18 TNF EDNRA CSNK1D TREX1 ESR1 HP_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOCELE RPGRIP1L RDH12 FKTN IQCB1 DLL4 FKRP INPP5E AIPL1 CC2D2A SPATA7 ARMC9 ARL13B NID1 LRAT C2CD3 POLR1C CEP41 TMEM216 DLL1 LAMB1 TMEM67 CSPP1 FLNB CEP290 MKS1 CEP120 TMEM231 POMGNT1 CRPPA RPGRIP1 PTCH1 B9D2 FLNA EOGT USP45 LCA5 B9D1 DISP1 PCYT1A NOTCH1 CEP55 ALX3 NODAL GMPPB TCTN1 TCTN2 RBPJ TGIF1 KCNJ13 TMTC3 ALX4 CRX KATNIP POMT2 B4GAT1 KIAA0586 TMEM138 ESCO2 RPE65 SIX3 TDGF1 TMEM107 SMO GAS1 GLI2 LARGE1 FRAS1 MSX2 TMEM237 ZSWIM6 VSX1 FGF8 NPHP1 ZNF423 GUCY2D ALX1 ARHGAP31 NMNAT1 FOXH1 HOXD13 WDPCP ARL3 DOCK6 TULP1 COL18A1 POMK FGFR1 RD3 GDF6 PIBF1 TCOF1 AHI1 CDON FREM2 CYP26B1 POMT1 POLR1D IMPDH1 ZIC2 GRIP1 SHH CEP104 CRB1 IFT140 FGFR3 HYLS1 CPLANE1 HP_OCCIPITAL_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_ENCEPHALOCELE RPGRIP1L FKTN B9D1 FKRP TMEM67 CC2D2A ARL13B TMTC3 CYP26B1 C2CD3 POMT1 LAMB1 INPP5E MKS1 COL18A1 HOXD13 POMT2 POMGNT1 B4GAT1 KIAA0586 CSPP1 B9D2 TMEM107 POMK SMO TMEM231 ALX4 LARGE1 MSX2 GMPPB HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT ZAP70 WDR35 STAT1 CR2 PUF60 FOXE1 GFI1 COL5A2 CXCR4 IL6R RSPH4A PPARGC1A TBX1 PRMT7 SF3B4 CTLA4 MGP RAG2 CFI TCF3 RTEL1 ACP5 ICOS CCDC114 KANSL1 CREBBP PRPS1 FGFR2 CFAP298 SEC24C SLC29A3 KRAS PSMB8 PTPN22 MEG3 F12 CCDC103 CD81 FMR1 MLH1 TSPYL1 SETBP1 CCNO RSPH9 RSPO2 LRRC6 GAS2L2 FUCA1 EP300 SEMA3E ZMYND10 SCNN1G ANKH COL11A1 NEK10 CCDC65 AGA FRAS1 IL7R BRF1 RSPH1 DCLRE1C GAS8 TRIM37 STXBP2 EGFR IGHM ALX1 PRKCD GLB1 GP1BB NLRP1 DNAAF6 OPTN DNAL1 DYNC2H1 IL17RA FOXN1 DNAH9 MAP3K7 UBQLN2 SALL4 DYNC2I2 TNFSF12 LAMC2 NF1 HAAO SFRP4 DNAI2 SGSH C2CD3 LRRC8A SLC26A2 MS4A1 DNAAF1 FIG4 DNAH1 MSH2 AFF4 INTU SNIP1 CCNF CTC1 NFKB1 NFIX GMNN LBR SPECC1L SOX9 NOTCH2 DHCR7 OFD1 DNMT3B PON2 GALC DKC1 DNAAF3 WRN CIITA RFXAP TNFRSF13C MAGT1 NBN DNAAF5 HSPG2 GNPTAB PABPN1 CDKN2A TERC WIPF1 RFXANK CARMIL2 EIF4A3 COMT FLNA USB1 PSAP TAPBP ALX3 STAT3 TREM2 BLNK RPL10 RUNX2 MSH6 PKDCC CAT PTH1R SPAG1 PGM3 SPEF2 PRTN3 RAG1 TBK1 POLR3A LONP1 KATNIP TP63 FUS LEP SCNN1B XIAP NOTCH2NLC DNAAF2 LTBP4 NPM1 WNT3 IRF8 KAT6A BTK TTC25 LRP12 CHMP2B SERPING1 HLA-DPA1 ARMC4 KAT6B EDN1 CYBB LEPR KCNJ2 RAC2 TNFRSF1A AICDA ATP6V1E1 RALGAPA1 NFKB2 IGLL1 IL2RG PRKAR1A ERBB4 WAS TNFRSF13B FREM2 IFT80 NOP10 LAMA3 HNRNPA1 NME8 ADARB1 ANO3 SH3KBP1 LTBP3 ELANE DCTN1 VCP SQSTM1 CCDC39 CD79A ADA DNAI1 MEIS2 NCF4 FGFR1 KCNMA1 RSPO1 SRP54 TBX3 RPGR GLI3 DNAAF4 TONSL SCNN1A CD19 JAK3 FLNB MKS1 CCDC151 ALMS1 PRRX1 SIX2 EXTL3 APC UNC13A SOD1 USP9X BTD UFD1 CHCHD10 SBDS GLT8D1 AMER1 MID1 TERT TP53 DNAH5 HYLS1 NCF2 DLK1 EPHA4 DOCK8 RREB1 SMCHD1 PDE4D POR CD79B MST1R C9orf72 GRIN2A HIRA HYDIN RAI1 AHDC1 STK36 PFN1 HPS6 NIN TAP2 ASAH1 MAN2B1 SOX4 CYBC1 ORC6 IVNS1ABP SRPX2 SMAD4 MED12 NEK1 RFX5 DNAH11 LRP4 FOXP1 CYBA NLRP12 PON3 PNP NCF1 IKBKB TARDBP EFL1 PSMB9 ATRX NEFH TAF15 DAO SATB2 WRAP53 GRIP1 NAGLU COL5A1 MDM2 IGSF3 FOXJ1 NHP2 KIF22 JMJD1C MT-CYB VPS13B CFAP300 VAPB ATM RSPRY1 SCARF2 LAMB3 KIF7 CCDC40 SHH MYSM1 IDS PCNT PORCN GALNS LRRC56 TBC1D24 MYMK RTL1 DRC1 PRPH PSMB4 MCIDAS CFAP221 DNAJC21 LRBA PARN GLE1 SH2D1A MATR3 PLP1 ANXA11 CTSK MDM4 FERMT1 UNG DYNC2I1 TCTN3 GJA1 TINF2 GNS TTC12 FCGR3A SCN4A GABRG2 COL12A1 RNF168 CHD7 ARVCF HOXD13 TCOF1 PLG TAF1 IL21R CASR HDAC4 COG4 ADA2 ADNP GUSB ATXN2 DNAJB13 CFAP410 CHEK2 LMNA PON1 HGSNAT STK11 SYT1 HLA-DPB1 PIK3R1 TAP1 RSPH3 ARSB TCIRG1 ANG UNC119 UBE3B HP_ABNORMAL_LUNG_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUNG_MORPHOLOGY WDR35 KDM6A CLIP2 CR2 NODAL PUF60 SOX4 HES7 FSHR ADGRG6 CXCR4 C11orf95 IL6R AGA COL6A1 ZFPM2 PRKG1 HLA-DRB1 FGFR1 CFTR CTLA4 TTC37 IRF5 MGP RAG2 NPHP3 CFI TCF3 BTNL2 DIS3L2 DISP1 PARN RTEL1 CCDC22 NOTCH2 ACP5 EOGT THOC2 EPM2A ELN BCL10 CALCRL CCDC114 NOTCH1 NR5A1 KANSL1 CREBBP ZBTB24 STAT4 ITPR1 MAGEL2 PIK3CD GDF1 FAM20C ALOX12B SNRPN SLC29A3 IL23R SP110 CTRC TINF2 CCDC103 CD3D UBA1 IFT172 TSC2 DHCR7 NSDHL TGFB1 GSN SMAD3 RSPH9 JAGN1 SIX3 CDT1 ACTL6A ITGA8 KIAA0586 WT1 NDN DYNC2I1 LRRC6 GAS2L2 FUCA1 SYT2 EP300 STAT3 SFTPC SCNN1G GLI1 TBL1XR1 CYP4F22 IL7R JAK3 EPG5 TBL2 DGCR8 GAS8 NCF2 GPC3 NFKB2 CHAMP1 SLC35A1 ITGA7 EGFR CHRNA1 TERC TSC1 LCK RARA GLB1 SOS1 GP1BB DNAAF6 CCNQ NELFA UBB POLE SLC34A1 MUSK IL17RA IKBKB COL6A3 DNAH9 NKX2-1 HERC2 MYOD1 MANBA DYNC2I2 UBAC2 NHP2 MYO5A FBN1 LAMC2 GPC6 GAA SKIV2L LACC1 NEK8 GUSB LRRC8A NBN LIMK1 PTCH1 EDNRB RPS15A DLL1 GRHL3 DNASE1L3 DNAAF1 NHLRC2 SIK1 KIF20A GAS1 SERPINF2 IGLL1 CHAT SFTPB TGFB2 GMNN LBR SPECC1L FMO3 MALT1 EWSR1 DCLRE1C IRAK1 SOX18 NPAP1 RAC2 SNX10 C4A DNMT3B BLM DVL3 EFEMP2 DKC1 SNORD116-1 SLC18A3 CHRNG WRN CIITA PTCD3 VAMP1 TNFRSF13C MAGT1 ENG TNNT2 PSMC3IP TREX1 CARD11 NABP1 WIPF1 GLUL CARMIL2 KMT2E TBX20 COMT MYPN RLIM GPKOW MYBPC3 MINPP1 MKRN3 SNORD115-1 RYR1 CCR1 ACE MED25 RPL10 RHOH NAA10 PRKAR1A CRKL SHROOM4 RAG1 BUB3 TDGF1 GLA PIGL SLC46A1 PDHA1 COL13A1 RSPH3 SMARCD1 SCNN1A TNFRSF11A SPEF2 RIT1 PRTN3 CRELD1 DYNC2LI1 BRCA2 RSPH4A TRAIP GRIP1 B3GLCT ERCC2 DICER1 RFXANK XIAP NOTCH3 BRAF PEPD AKT1 DNAAF2 DLL3 GTF2H5 LTBP4 RBM10 GLE1 ERAP1 WNT3 MYL2 CSF2RB TTC25 SERPINA1 GATM TNNI3 TRIP11 OCA2 LGI4 FGF8 SLC25A24 HLA-DPA1 CYBB NSD1 LEPR LAMB2 LAT TBX1 FOXC2 TNFRSF1A AICDA ATP6V1E1 PSMD12 TRPV4 ARID1A IL2RG GLI2 RRAS RUNX1 HLA-B TYK2 BLNK ZEB2 HABP2 CLPB NOD2 TLL1 NECTIN1 MEFV KAT6B TGFBR1 GATA4 FLNA CSF2RA CD247 FCN3 IFT80 COG4 NOP10 STRA6 WDR19 ZIC2 GATA6 SMARCC2 SCARB2 PRPS1 PLVAP EMG1 NKX2-5 KNSTRN CCDC39 CD79A ADA FGF20 WDFY3 NCF4 DNAI2 FRAS1 INPPL1 NFE2L2 SDR9C7 POLA1 NME8 CLCA4 SRP54 SMPD1 HPGD NUP107 DNAAF4 DOK7 RNF113A HLA-DQB1 CAV1 CD19 DCTN4 TGFBR2 KIAA0319L DGCR6 MKS1 CCDC151 FCGR2A RRAS2 STAT1 CSPP1 FAS USP9X SELENON MYT1L PIGN MUC5B UFD1 FLNB TCIRG1 FOXF1 HPS4 SMAD4 TRMT1 IL21 ACTL6B PAFAH1B1 TERT FARSA CACNA1B POLR2A TNFSF11 CCDC65 PGM3 DNAH5 ITCH TRIM28 TNFSF12 ATP11A MED13 ACTA1 GLDN GTF2IRD1 CD55 ETFB ZMYND10 SCN10A REN FLCN DOCK8 NEK9 ESS2 DNAI1 NFKB1 SRSF2 RFC2 BACH2 SLC34A2 TP53 ITGA3 CRLF1 HYDIN STAT5B NLRC4 TAP2 HPS1 CFH BCR PKD1L1 LPIN2 KIF1A CYBC1 ORC6 PLEC KCNJ6 IVNS1ABP ASXL1 ALG14 DDX6 COL6A2 WASHC5 KITLG ALG9 TK2 PRKDC SMARCE1 RFX5 DNAH11 CD3E SON FOXP1 NDUFAF6 RET RPGR CYBA PNP BMPR2 REST MCTP2 MYH7 IDUA SCN11A EHMT1 CCBE1 BAP1 SETD2 ZAP70 GATA2 VHL MBTPS2 CITED2 NEPRO CCR6 RARB IL12A-AS1 DPP9 SCNN1B NAGLU COL5A1 TPM2 CBL JMJD1C MT-CYB HELLPAR FOXH1 CRTAP ZMIZ1 IKZF1 SLC7A7 DNAAF5 SPAG1 ETFA ADAMTS3 TPP2 SLC25A1 LAMB3 ABCA12 WAS MYSM1 BCOR COL11A2 SLC2A10 GREB1L DZIP1L SHH USB1 P4HTM SOX11 TBC1D24 SVBP DRC1 B2M MCIDAS NHLRC1 SLC26A2 PLP1 DNAAF3 CD8A FANCB FOXE3 CDON HACD1 CD79B SH2D1A IL2RA TGFB3 CEP120 CEP57 CD81 COLQ KIF11 TARS1 UNG ARMC4 COL4A6 CDCA7 RSPH1 ELANE LYST PCGF2 TBCD TPM3 STAG2 GLI3 EFL1 ARVCF IER3IP1 RNU4ATAC ATM FLI1 SERPINH1 PLG TAF1 NUMA1 ADA2 FLT4 DNAJB13 AFF4 FBLN5 BAZ1B MYO9A FIP1L1 LAMTOR2 KLRC4 ZMPSTE24 LMNA PEX13 NGLY1 FGFR3 TIMM8A EVC2 LAMA2 MCM4 TGIF1 RANBP2 TAP1 TET2 LFNG IFNGR1 BIRC3 DNASE1 IDS SAMD9L NDUFB10 PSAT1 UMPS IRF2BP2 TRAPPC4 CCNO PLOD1 MKKS UNC119 ICOS ABL1 IFT43 CD28 BUB1B CD46 TRIP4 GFI1 COL5A2 DSG1 LONP1 ARID2 FARSB RELB MS4A1 SCN9A PTPN22 IFT140 CHST14 CHRND ACTC1 ZNHIT3 MLXIPL SLC35C1 RSPO2 HFE MAP3K20 RAB27A AGGF1 B3GALT6 AGTR1 CFAP298 FBXW11 RIPK1 OCRL SEC24C ADAMTS2 TFRC RBPJ PTPRC PSMB8 GBA ABCA3 NEU1 GTF2I PML SETBP1 EPHB4 SOX10 SLC25A22 PRKCD EVC SMARCD2 AGT NEK10 SMC1A TTC21B MYLK SOS2 CHD7 DOCK3 BMPER STXBP2 DDR2 IGHM PET117 CEP55 WNT4 RELA EIF2AK4 PSAP DNAL1 RIPK4 ARHGAP31 DYNC2H1 SNAP25 FOXN1 MASP2 RMRP COL3A1 PRKAG2 DHCR24 PWAR1 HRAS SGSH MFAP5 TRIP13 MPLKIP NUP88 KRAS RASGRP1 NTNG1 TCF20 DNAH1 IL12A INVS UBE2A INTU FCGR2B PURA AGRN NR2F2 ALB CTC1 NFIX ALMS1 MRAS OFD1 COQ7 FUZ TRAF3IP2 ZCCHC8 ALOXE3 SFTPA1 MTHFD1 RFXAP MAT2A TTC12 ASAH1 GNPTAB DPF2 CDKN2A SMN1 TBX5 PMM2 MIF LETM1 FAT4 TMEM94 FOXE1 IFIH1 POLR3A MESP2 BCL2 CDC45 TAPBP PAX6 ETFDH IL6ST IFNG SPINK1 CTSC PIEZO1 NFKBIA CTCF PTEN MAPK1 TNFRSF1B ERF RIPPLY2 KATNIP SNAI2 NOS1 SMO LEP APOE DGCR2 PTPN11 RUNX2 KEAP1 NPM1 TMEM260 SGCG NCF1 IRF8 BTK IL1RN FLNC CDC42 RCBTB1 ALG12 KLHL40 CD27 IL17F PERP MAN2B1 DPM2 CD40LG TBC1D23 SLC12A6 LOX ALDH18A1 TNFRSF13B EDARADD FREM2 CCN2 NEB FAM111B LAMA3 LRRC56 RAF1 SH3KBP1 LTBP3 KPTN UGP2 SMARCB1 EHHADH TCF4 EXOSC9 BNC1 IL6 MARS1 CASP8 ZBTB16 SULT2B1 SPP1 FANCF SFTPA2 NRAS RASA2 EXTL3 SPINK5 ZNF341 PIK3R1 CCND1 ARID1B SBDS AP3D1 ACTA2 TGM1 ELP1 VPS33A PDGFRA MYH6 TRPV3 BUB1 STAT6 PIEZO2 MECP2 HLA-DQA1 ACADVL ACVRL1 GTF2E2 HYLS1 IL10 CFAP410 SLC52A3 TBX6 PRSS1 DONSON NSD2 RREB1 PKHD1 TBCE OSTM1 TANC2 MYH11 HIRA VPS51 STK36 POLR3H HPS6 SPIDR AARS2 PEX1 PHGDH BCL11B ECM1 RAB3GAP2 COL2A1 SLCO2A1 LIFR A2ML1 GPC4 DSE CASP10 ASCC1 MYH3 NSMCE3 CORO1A NIPAL4 ATP6V0A2 SIM1 SMARCA4 KMT2D H19 LMOD3 SLC5A7 CTPS1 CFB MMP21 PTH1R IFT81 PRSS2 MITF POU6F2 RB1 CLEC7A WRAP53 MDM2 NTRK1 FOXJ1 KLHL41 DLK1 COG6 RNF168 FASLG ALPL CHRM3 VANGL1 MST1 LIG4 DLL4 TAPT1 RAC1 CFAP300 NIPBL ERCC3 TRPS1 MYRF PIGT STN1 IL2RB NXN CC2D2A CCDC40 CACNA1C STX1A PYROXD1 PCNT NF1 RNF125 DSP NADK2 FADD JAG1 GALNS SAMD9 COPA IRAK4 TECPR2 BGN LIPN APC2 IL17RC SLC1A4 CFAP221 AP3B1 PAX3 PANK2 WAC DNAJC21 MEG3 SDCCAG8 WDR1 CD3G LRBA BMP2 RTL1 TTC7A PPP1CB GPR35 MDM4 ATP5F1A TCTN3 HSPG2 RAPSN CLCN7 GNS TLR4 PLCG2 FCGR3A FOXP3 NEK1 BPTF PLA2G6 PWRN1 HOXD13 BCL6 ROR2 BMP15 MIR140 DOCK6 SREBF1 G6PC3 AK2 IL21R ADNP SLC11A1 COL4A5 CHEK2 MYD88 BCORL1 TASP1 MSN HGSNAT STK11 PDGFRB HK1 HLA-DPB1 LZTR1 MRPS22 FAM13A NAB2 STING1 PORCN ARSB HELLS ITK HP_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMONIA ZAP70 KDM6A CR2 SRP54 NODAL CASP8 GFI1 IL7R NKX2-5 CXCR4 HLA-DQB1 IL2RG CD19 JAK3 LONP1 FANCF FCGR2A ALMS1 ICOS EXTL3 SELENON DISP1 SBDS ACP5 ACTC1 EPM2A SLC35C1 MYH6 TGIF1 SIX3 PAFAH1B1 SFTPC HLA-DQA1 ACADVL PTPRC TNFSF12 SP110 TBC1D24 CD3D CD81 ABCA3 CFAP410 CD55 DOCK8 SETBP1 FBLN5 PKHD1 DNAI1 OSTM1 KIAA0586 GATA6 SMARCD2 RAG2 CRLF1 EP300 SMC1A IGHM DDR2 SHH MAN2B1 CHD7 ORC6 KCNJ6 DCLRE1C PIK3CD GLI2 NCF2 SLC35A1 EGFR TK2 CFTR PIGN TGFB1 BTK UBB CD3E STAT3 FOXN1 STAG2 MASP2 KMT2D CREBBP RMRP LAMC2 PNP RNU4ATAC CDON ADA NBN MS4A1 PTCH1 CFB DLL1 GRHL3 GAS1 CITED2 IGLL1 CYBC1 CYBB AFF4 PURA OFD1 SFTPB NFKB1 NFIX CCDC114 FMO3 NTRK1 GATA4 RYR1 DNMT3B BLM FGFR1 FOXH1 EFEMP2 GBA ZIC2 TLL1 PTCD3 TDGF1 MTHFD1 LIG4 RAC1 TNFRSF13C CYBA NIPBL ASAH1 GNPTAB CARD11 LAMB3 PMM2 CARMIL2 TBX20 COL11A2 RAG1 CACNA1C ACTA1 USB1 RNF125 DZIP1L NADK2 MED25 P4HTM SAMD9 MCIDAS NHLRC1 CD247 TREX1 AP3B1 PDHA1 PGM3 PANK2 DNAJC21 TNFRSF11A WDR1 NKX2-1 LRBA FGF8 CD79B NOS1 LEP PEPD COL4A6 SGCG TBCD NCF1 IRF8 FOXP3 RNF168 EFL1 PLA2G6 SLC25A24 CD27 SREBF1 TNFRSF13B RAC2 TAF1 IL21R COL4A5 NFKB2 PLOD1 CSPP1 BLNK WAS LAMA3 TIMM8A WDR19 RANBP2 GAS8 ZBTB24 LTBP3 ELANE KPTN KNSTRN IFNGR1 PRKCD DNAI2 TCIRG1 UNC119 POLA1 HP_RESTRICTIVE_VENTILATORY_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_VENTILATORY_DEFECT FRG1 AK9 MUSK CR2 CHRNA1 SGCG TNFRSF13C TTN LRP4 ENG FKRP CSF2RB CHRNE LRP12 SELENON CHRND RNF168 SCN4A MT-TN GLB1 ALMS1 HLA-DRB1 HLA-DPA1 CSF2RA RNU4ATAC ACP5 TNFSF12 HPS4 SYNE1 FLNB IDS TOR1A NFKB2 MT-TL1 STAC3 CHRNB1 CHCHD10 CTLA4 HLA-B DOK7 HES7 FARSA MT-TL2 B3GALT6 GALNS MS4A1 PIEZO2 SLC12A6 COPA MYH7 COL13A1 TNFRSF13B DNASE1L3 COL2A1 MESP2 CD81 FGFR3 NLRP3 MEGF10 TSC1 TSC2 HLA-DPB1 PTPN22 MEG3 GZF1 NFKB1 PRTN3 AGRN SLC34A2 TRAPPC11 RAPSN RTL1 CD19 PRKCD BTNL2 DKC1 DLK1 PLOD1 IKZF1 GNPTAB DDR2 HPS1 ICOS HP_RESPIRATORY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY WDR35 NDUFS4 CCDC174 TUFM HES7 WFS1 PPARGC1A CHRND COL6A1 RMRP LYRM7 NFU1 NDUFV1 PMP22 BICD2 CCDC114 PEX6 FGFR2 LIG4 NPC2 NDUFB11 MYL1 CCDC103 TSPYL1 IFT172 NEB CTSD GPX4 HYMAI SLC26A2 MYF6 ERF DYNC2I1 LRRC6 COL1A1 GARS1 SYT2 SPEG ABCB4 TTN GAS8 PEX5 KRT14 ITGA7 PEX26 DNM2 FKBP10 CLCF1 GLS DNAAF6 CHAT COL6A3 DNAH9 NKX2-1 MYOD1 RAPSN DYNC2I2 EGR2 LAMC2 GAA NDUFA1 TSEN54 POLG2 CPS1 DOK7 NBN TRAF7 SHPK DNAAF1 FIG4 NHLRC2 GRM7 NFASC NDUFS2 CHRNE COG7 SFTPB CCNF POLR1B PAX7 LARS2 TMEM70 CFL2 HPDL ACTA1 BLM PON2 GALC GFPT1 EFEMP2 STAT2 SLC18A3 CHRNG PTCD3 MUSK VAMP1 TARDBP PIEZO2 LBR MAMLD1 NDUFAF1 CISD2 HSPG2 TRAPPC11 GLUL FOXI1 UFM1 SF3B4 TSC2 FUT8 POMT1 RYR1 MADD ACE MYBPC1 MYH7 FHL1 RUNX2 BSCL2 GLA LAMA2 PDHA1 COL13A1 RSPH3 PEX10 SPEF2 FGFR3 EXOSC3 PRTN3 IGHMBP2 RSPH4A LMNA BIN1 PRKCSH CHRNA1 LTBP4 MPZ DNAAF2 DLL3 SLC25A20 UBE3B NSUN2 TICAM1 CANT1 EXOSC8 MYL2 DCTN1 CSF2RB TTC25 LRP12 SLC25A24 SLC25A4 MCCC1 HLA-DPA1 NDUFB8 RNASEH2A LAMB2 ASNS DES SLC19A3 CLPB FLNA CSF2RA TET2 IFT80 MYPN STRA6 WDR19 CUL7 HNRNPA1 DPAGT1 COQ9 TPM2 TBCK TRMU HCCS KNSTRN SQSTM1 CCDC39 COL1A2 COA8 MORC2 INPPL1 PLPBP NME8 NDUFA11 NUTM2B-AS1 PEX11B SMPD1 SBDS SURF1 COX14 CCDC151 TIMMDC1 MTMR14 SELENON NDUFS6 FOXF1 FLAD1 TNNT1 POMK TPM3 SFTPC PLAGL1 CCDC65 DNAH5 PIP5K1C NUP188 DLK1 EPHA4 ZMYND10 REN AIFM1 ORAI1 ATAD1 COL11A2 ITGA3 GMPPB SLC25A46 HYDIN AHDC1 MCCC2 DST DNAAF4 ORC4 NDUFA10 KCNJ6 PIK3CD ALG14 HADHB LIPT2 COL6A2 TK2 NEK1 DNAH11 SON DMD PON3 SCN4A STIM1 ASAH1 SARS2 BOLA3 CCBE1 GATA2 KRT5 NEFH NDUFS3 ACVR1 DAO SUCLG1 KCNJ10 NDUFV2 SLC7A7 DNAAF5 SPAG1 COL12A1 VAPB ADAMTS3 SLC25A1 BAG3 SYNE2 LAMB3 ABCA12 LAMP2 PLEKHG5 TBCD HADHA COLQ DZIP1L SOX9 FBN1 CFAP300 PLAA ACOX1 NDUFS1 RTL1 NDUFS8 MCIDAS GALK1 KBTBD13 HACD1 VMA21 DRC1 GLE1 MATR3 PEX16 CEP120 ORC6 PLP1 TPI1 ARMC4 NDUFB9 DMPK COX7B COL11A1 NDUFAF4 MT-TN NDUFS7 CHD7 IBA57 TSC1 FGFR1 TOR1A KLHL40 ATXN2 CPT2 DNAJB13 CFAP410 NALCN FLNB COQ4 CDC45 MYO9A ATP8B1 MPL PON1 ERBB3 KLHL41 MCM4 POLR1D ORC1 LFNG FKTN NDUFB10 ANG ALDH7A1 TRIP4 SMPD4 COX6A2 LONP1 SEPTIN9 FARSB FCSK IFT140 ACTN2 NDUFAF2 HIBCH TNPO3 MAP3K20 AGGF1 PRPS1 B3GALT6 AGTR1 CFAP298 PLOD2 PEX2 OCRL MEG3 BDNF ABCA3 CCNO FBLN5 FKRP AGRN MT-ND2 SEMA3E AGT CRYAB NEK10 TTC21B RSPH1 GAS2L2 BMPER NPHS1 TRPV4 PHOX2B PEX13 PSAP OPTN DNAL1 CDC6 DYNC2H1 MLYCD SNAP25 UBQLN2 DNAI2 HRAS MT-ND3 MTM1 JAK2 NUP88 NDUFAF3 INPP5K MICOS13 DNAH1 MYO1H CDT1 INVS RNASEH1 PEX3 NDUFA6 OFD1 CHRNB1 PEX14 DNAAF3 POMT2 GMPPA FLNC RFT1 POLR1C CNTNAP1 PEX7 MRPS14 FOXRED1 MESP2 MT-TL1 POGLUT1 TMEM126B SPG11 LARGE1 TREM2 TWNK MT-TL2 DYNC2LI1 ALAD VRK1 SRP54 ABCB11 AHCY OSTM1 TRAF3 TBK1 RIPPLY2 TLR3 FUS YARS2 NUBPL RSPH9 GNPTAB AAAS LRP4 TMEM231 NDUFAF8 KAT6A CHMP2B HTRA2 SLC25A26 DAG1 RALGAPA1 CTLA4 ERBB4 PBX1 LAMA3 PTPN22 LTBP3 VCP MFN2 DNAI1 CNTN1 TSFM EXOSC9 CSGALNACT1 SPOP BCHE UNC93B1 RPGR GLI3 SLC27A4 TMEM43 CPOX NR1H4 MYMK POLG UNC13A SOD1 CHCHD10 STAC3 NAXE GDNF GLT8D1 LIAS MEGF10 PLCB3 SLC52A3 MARS1 PKHD1 DNAJC21 SDHA USP18 PURA C9orf72 CYP27A1 MGME1 NDUFA9 ZNF148 STK36 PFN1 MT-ND1 LMOD3 SNRPB COL2A1 LIFR ASCC1 SMAD4 MT-TT GTPBP3 SLC2A10 SLC5A7 EMD RNU4ATAC ATXN1 NDUFAF5 C19orf12 IFT81 MYH3 NDUFB3 TAF15 MYOT COL3A1 MT-TE FOXJ1 CRLF1 GMNN AK9 PEX12 SLC25A3 TRIM2 UBA1 CCDC40 KIT PEX19 RRM2B LRRC56 PRPH SLC6A9 CFAP221 SUCLA2 EDN3 ANXA11 MECP2 SMN1 SLC52A2 TTC12 RNF168 FAT4 G6PC3 AGK PLOD1 TCOF1 MYD88 SEC63 HMBS HLA-DPB1 PHYH PEX1 LRP5 MTTP PLEC ZC4H2 SYNE1 DPM2 FAM20C SCO2 SLC26A4 HP_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPNEA NOD2 PUF60 LYRM4 ALDH7A1 PCSK9 XYLT1 PPARGC1A CHRND ZFPM2 PRKG1 HLA-DRB1 ABCG5 STAT5B MUC5B BTNL2 PARN MMACHC SCN4A ACTC1 CYB5A FGFR2 B3GALT6 SCNN1A ATRX TBC1D24 ABCA3 PML TSC2 SETBP1 SMAD3 EPHB4 GNAI3 BCOR AGRN GNAS RPS26 EOMES SYT2 SFTPC MT-TV TBL1XR1 CHRNA1 FOXF1 FBN1 MYLK FBP1 TTN BMPER SLC35A1 TERC MT-ND1 EIF2AK4 RARA NKX2-5 MYH11 CHAT SCN1B OPTN CDC6 SNAP25 MT-TK NKX2-1 UBQLN2 LAMC2 DYNC2LI1 GAA ORC1 POLG2 LGI4 MFAP5 RELN DNASE1L3 GATA4 FIG4 KIF20A CDT1 NDUFS2 PURA CHRNE COL1A2 NR2F2 HLCS SFTPB TGFB2 CCNF IRAK1 IFT52 RPS28 COQ7 PON2 CHRNB1 GALC NEMF DMPK TERT EPOR SLC18A3 MUSK VAMP1 SFTPA1 ENG PLCB4 TRPV6 TNNT2 MAT2A SLC25A3 NABP1 PMM2 DISC1 WIPF1 NEB COL13A1 TBX20 MYPN MYBPC3 PSAP CITED2 TREM2 SSR4 TWNK NDUFAF3 ETFDH SMPD1 CAV1 PRKAR1A ABCG8 ENPP1 RUNX2 RTEL1 GLA CFTR SRP54 MT-ND2 ERF TBK1 MPC1 CRELD1 FUS DNA2 GBA TRAK1 UBE3B MT-TW LRP4 MMAA CSF2RB CHMP2B IL1RN FLNC TNNI3 TRIP11 SLC25A1 ABCC6 SERPING1 NDUFB11 NDUFB8 SOX9 ACADM LAMB2 STT3B DPM2 LDLR MT-ND5 RUNX1 HLA-B DOK7 ERBB4 TLL1 TGFBR1 LOX TNNC1 LIFR CSF2RA SLC12A3 CCN2 POMT1 LAMA3 HNRNPA1 TRMU HCCS GATA6 LTBP3 DCTN1 JPH2 VCP SQSTM1 KRT6A COA8 FGFR1 JAK2 LMNA MT-ND4 MAPT NPM1 SBDS SURF1 COL2A1 ZBTB16 SPP1 TGFBR2 ALMS1 SFTPA2 PRRX1 CSPP1 UNC13A SOD1 USP9X STAT3 BTD TUBB4A CHCHD10 TET2 GLT8D1 ACTA2 VPS33A TRPM4 MYH6 SMAD4 ACADVL ACVRL1 ATP11A PNKD ETFB MEGF10 EPHA4 SLC52A3 MARS1 AIFM1 TSC1 SCO2 PYGM DNAJC21 SRSF2 C9orf72 TRMT5 ELN NAGS ITGA3 MGME1 PFN1 ORC4 ASAH1 ORC6 PLEC KCNJ6 SNRPN ASXL1 RNF13 TK2 NEK1 CLCNKB GTPBP3 MT-TN PON3 BMPR2 SLC2A10 KCNA1 SLC5A7 TARDBP MT-ND6 RNU4ATAC GYG1 MT-TL1 SCNN1G MT-ATP6 IFT81 PGM1 NEFH CCR6 CYB5R3 EDN1 ADAMTS13 AIMP2 STAT4 TAF15 DAO CASR DPP9 SCNN1B MT-TE ZIC3 DNAJB6 CBL IKZF1 GMNN AK9 ETFA MMUT VAPB CRLF1 LAMB3 STN1 SERPINA1 STX16 WAS RRM2B PRKCSH LDLRAP1 DSP HBB DBH MMAB COPA EFTUD2 EDA PRPH KRT17 SCN5A NPPA DNAAF3 PRRT2 KRT16 CNTNAP1 FOXE3 SDCCAG8 MYL2 ACADS SIK1 MRPL3 RAPSN GLE1 ZMPSTE24 TGFB3 MATR3 COLQ ANXA11 APOB COL4A6 NUP214 POLG COX7B VCL FOXP3 EP300 KLHL7 ISCU ALAS2 KAT6A SH2B3 ARX PIGT NUMA1 CREBBP ADNP ATXN2 CPT2 COL4A5 CFAP410 TBX4 IRF5 CDC45 MYO9A FIP1L1 DHX16 PON1 NGLY1 OTX2 FAM13A MT-ND3 DSC2 KRT6B MYL3 IRF2BP2 ANG FAM20C ADCY6 DPM1 SLC25A4 HP_EMPHYSEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMPHYSEMA CR2 LTBP4 TNFRSF13C SERPINA1 HLA-DRB1 FARSB SPINK5 MGP NSD1 SON BTNL2 LMNA ELN TNFSF12 FBLN5 FBN1 COL3A1 NFKB2 TAPBP EFEMP2 RHOH SCNN1A FLCN MS4A1 ALDH18A1 SCNN1G SETD2 TNFRSF13B DNASE1L3 NDUFAF6 CD81 APC2 GLA TGFB2 TSC1 TSC2 CFTR EVC2 CDT1 TAP1 NFKB1 GMNN SCNN1B EVC CD19 DYNC2LI1 PRKCD GLI1 TAP2 ICOS HP_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_DISTRESS MT-ND4 MAPT SBDS PUF60 LYRM4 SURF1 ALDH7A1 COL2A1 XYLT1 ZFPM2 ALMS1 ABCA3 PRRX1 USP9X BTD TUBB4A MMACHC VPS33A SFTPC FGFR2 B3GALT6 ACADVL TBC1D24 ETFB MEGF10 SLC52A3 AIFM1 SETBP1 EPHB4 SCO2 GNAI3 DNAJC21 GATA6 NAGS ITGA3 RPS26 EOMES SYT2 MT-TV FOXF1 STAT5B ORC4 ASAH1 BMPER SNRPN SLC35A1 RNF13 MT-ND1 TK2 CHAT CDC6 CLCNKB SNAP25 NKX2-1 MT-TN LAMC2 DYNC2LI1 GAA SLC2A10 ORC1 KCNA1 SLC5A7 LGI4 MT-ND6 RELN MT-TL1 MT-ATP6 IFT81 GBA CDT1 EDN1 NDUFS2 ADAMTS13 PURA AGRN HLCS SFTPB AIMP2 IFT52 MT-TE ZIC3 RPS28 COQ7 MT-TK GALC NEMF DMPK SLC18A3 GMNN ETFA VAMP1 MMUT PLCB4 TRPV6 SLC25A1 LAMB3 SLC25A3 PMM2 DISC1 COL13A1 TSC2 PSAP SSR4 NDUFAF3 ETFDH MMAB ENPP1 EFTUD2 EDA RUNX2 KRT17 DNAAF3 SRP54 MT-ND2 KRT16 CNTNAP1 SDCCAG8 ERF ACADS SIK1 MPC1 ORC6 COLQ NUP214 TRAK1 UBE3B MT-TW MMAA COX7B CSF2RB FBP1 FOXP3 IL1RN TRIP11 EP300 KLHL7 ABCC6 SERPING1 NDUFB11 KAT6A NDUFB8 SOX9 LAMB2 TSC1 CREBBP STT3B ADNP DPM2 CPT2 MT-ND5 CDC45 MYO9A LIFR CSF2RA SLC12A3 DHX16 POMT1 NGLY1 LAMA3 OTX2 TRMU HCCS CHRNE MT-ND3 KRT6B KRT6A FGFR1 FAM20C ADCY6 DPM1 HP_ASTHMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTHMA ALOX5 ADRB2 DDX41 ZIC2 SHH USP7 TBX1 FGFR1 PEX5 CASP8 ELOVL4 SPINK5 CARD11 FCGR2A SIX3 CARMIL2 NEK9 SCGB3A2 COMT UFD1 SCN4A DOCK8 ERCC2 BBS1 IDS LIG4 PGM3 SEC24C DISP1 GP1BA CDSN RIC1 CCDC151 CCDC28B GP9 CREBBP DLL1 MS4A2 WAC RREB1 COX4I2 NKX2-1 SRSF2 MUC7 TNF LRBA TBCK HLA-G IL13 TET2 NODAL HIRA TRAIP EP300 VPS51 STXBP1 PEPD GP1BB SUFU SIK3 TGIF1 NSUN2 HMGA2 ASXL1 PLCG2 NFKB2 PTGER2 PLA2G7 GLI2 ODC1 GAS1 ARVCF CFTR LMX1B FGF8 TGFB1 SDHD GTF2H5 CDON JAK1 TDGF1 AFF4 TALDO1 RUNX1 BCL11B CCL11 TBX21 NOD2 MTOR FLG LIFR IL4R HNMT PLAG1 FOXH1 GRHL2 IGF2 PTCH1 ARL6 CDKN1C ALMS1 CBL JMJD1C ADA HP_RECURRENT_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPIRATION_PNEUMONIA KIAA0586 KDM6A HLA-DQA1 NFIX PIK3CD SP110 NTRK1 KMT2D KNSTRN NHLRC1 CRLF1 NOS1 EPM2A HLA-DQB1 ASAH1 PDHA1 LONP1 SLC25A24 GBA CSPP1 PIGN HP_ABNORMAL_LUNG_LOBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUNG_LOBATION FLCN GDF1 SEC24C PUF60 BUB3 GLI3 BUB1B WNT3 GPC3 FREM2 TBX1 HYLS1 TRIP13 GPC4 DHCR7 ALG9 PIGT GP1BB ARVCF RREB1 RSPO2 PTEN FANCB WT1 LBR COMT GRIP1 UFD1 EMG1 HIRA FOXF1 CEP57 JMJD1C FRAS1 AKT1 BUB1 HP_PLEURITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURITIS NOD2 MEFV HLA-B ERAP1 TLR4 KLRC4 IL23R FCGR2A IL10 FAS IL12A TREX1 HLA-DPB1 FCGR2B PTPN22 HLA-DPA1 PRTN3 IL12A-AS1 CTLA4 UBAC2 C4A TNFRSF1A CCR1 DNASE1 STAT4 HP_ABNORMAL_PLEURA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLEURA_MORPHOLOGY MST1 CD28 IL6 TAPT1 ENG ADAMTS3 CD46 FCGR2A SPP1 TREX1 MEFV HLA-DRB1 CFTR MIF PTPN22 BTNL2 CCND1 GPKOW BCL2 ELP1 CCR1 CALCRL HFE STAT4 STAT6 CFI SPINK1 IL23R FLCN CTRC IL10 FAS PRSS1 TSC1 TSC2 PIEZO1 SERPINF2 CCBE1 RIT1 PRTN3 TNFRSF1B BMP2 TNFRSF1A DICER1 VPS51 KIF11 GPR35 CFH KEAP1 LYST ERAP1 TLR4 ALG14 HLA-DPA1 BCL6 CTLA4 FAT4 UBAC2 COL3A1 HLA-B LACC1 MYD88 GUSB NOD2 KLRC4 DNASE1L3 PRSS2 IL12A CYBC1 HLA-DPB1 FCGR2B CBL NAB2 LBR PLVAP IL12A-AS1 IRAK1 SOX18 C4A HELLPAR DNASE1 FSHR TCF4 IKZF1 ITK HP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEA HSPD1 NDUFA4 NODAL NDUFA13 PCK1 GPHN BUB1B ARMC9 PEX5 PRMT7 FGFR3 KCNQ2 PRPS1 TMEM231 DISP1 SKI BCHE NDUFAF2 TSEN15 B9D1 SIX3 ARCN1 IDS NTNG1 MAGEL2 CTNNB1 SNRPN SEPSECS PET100 TSPYL1 GSN FXR1 CTSD GNAI3 KATNIP KIAA0586 BRAT1 NDN NDUFA12 ASCL1 SYT2 EP300 NACC1 MT-TV CRYAB OFD1 SMC1A PDHA1 SHH NDUFS8 TBR1 FBP1 MCCC1 TMEM67 CC2D2A MT-ND1 TRPV4 INPP5E NGLY1 CHAT SNAP25 TMEM237 HERC2 CREBBP ECHS1 CDON TSEN54 PLAA PWAR1 HRAS C2CD3 PTCH1 DLL1 GAS1 ACY1 CCDC47 AHI1 NDUFS2 PURA AGRN SCO1 NFIX NEB GPR101 NPAP1 SNX10 NDUFA9 RET MT-TK CEP104 NDUFV1 GBA SNORD116-1 ZIC2 STAT2 SLC18A3 DPH1 RPGRIP1L LARP7 VAMP1 TDGF1 SURF1 PLCB4 USP7 CISD2 AIP HSPG2 CSPP1 FGFR2 TGIF1 GLUL TMEM216 COL13A1 FOXRED1 MECP2 MKRN3 SNORD115-1 PRRT2 SLC39A8 NDUFAF3 TCTN1 TECPR2 TMEM107 BUB3 FLCN NDUFAF6 MT-ND2 PEX13 TACO1 FGF8 DNA2 D2HGDH BTD SFTPB NONO GNPTAB RUNX2 PRNP NDUFV2 RBM10 NDUFA11 MT-TW NDUFS7 IDUA HTRA2 OCA2 CEP120 SLC19A3 GABBR2 NDUFB8 SOX9 LAMB2 ADGRG1 SDHA GLI2 MT-ND5 PIBF1 CDKL5 LIFR SPOP COQ2 NDUFAF5 FGFR1 SRPX2 TRIP13 SCN5A BRAF DPAGT1 STXBP1 LRRC32 LTBP3 CEP290 KIF5A TCTN3 KAT6B GNE NDUFA2 PLPBP MT-ND4 RPS6KA3 TCF4 ABCA3 PHOX2B TCIRG1 AP3D1 GDNF AMER1 NDUFA10 SLC6A5 BUB1 SOD1 NALCN TNFSF11 KIF7 GLRA1 SLC5A7 LIAS FAM149B1 POGZ SCN2A CPLANE1 MTHFR GRIN2A PDE6D AHDC1 VPS51 SLC2A1 DST KCNQ3 OPA1 KIAA0753 PRPH UNC80 TMEM138 ATN1 TSEN2 TCTN2 STAG2 SIM1 DKK1 ARL13B SCN8A BMP2 MT-ND6 CEP41 MT-TL1 MT-ATP6 FBN1 EDN1 NDUFS1 NEK1 LIPT1 COL3A1 PCCA SCN4A FOXH1 HYLS1 ALPL SLC25A1 PIGT TWIST1 SLC25A20 MKS1 TERT RNF125 NADK2 P4HTM NDUFS3 SH3BP2 MTFMT SLC6A9 MYO9A CEP57 DCTN1 COLQ RERE ATP5F1A COX15 PSAP SATB2 CLCN7 DMPK PCGF2 NPHP1 ZNF423 GABRG2 PLA2G6 PWRN1 RAI1 ARL3 RARS2 HMGCL CPT2 SYT1 TSEN34 AFF4 TOE1 EDN3 PTF1A WFS1 ACADSB PI4KA CHRNE MT-ND3 NDUFS4 ZC4H2 NEFH PCCB FARS2 SCO2 HP_HEMOPTYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPTYSIS MLX ERAP1 TLR4 ENG MAT2A COL5A2 IL17RA TGFBR2 SMAD4 PRKG1 HLA-DRB1 HLA-DPA1 ACVRL1 BTNL2 IL17F TSC1 TSC2 UBAC2 ACTA2 CCR1 COL3A1 CTLA4 STAT4 TLL1 SCNN1A HLA-B MFAP5 MEFV TGFBR1 LOX SCNN1G KLRC4 IL23R DNASE1L3 IL10 FAS IL12A IL17RC CFTR SMAD3 HLA-DPB1 PTPN22 FOXE3 CLEC7A TGFB2 PRTN3 ELN MYH11 IL12A-AS1 SCNN1B COL5A1 IL12B TGFB3 C4A F5 TRAF3IP2 GDF2 FBN1 MYLK HP_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMOTHORAX ABL1 MAT2A DDR2 DSE TGFBR2 FLCN LAMB3 SLC25A24 PRKG1 BTNL2 CHST14 ACTA2 FBN1 ATP6V1E1 LAMC2 COL3A1 DZIP1L SMAD4 HRAS B3GALT6 CLPB MFAP5 TGFBR1 SMAD3 LOX ADAMTS2 HLA-DRB1 TGFB2 TSC1 TSC2 LAMA3 FBLN5 PKHD1 FOXE3 ELN MYH11 TGFB3 EFEMP2 SFTPB MYLK HP_SPONTANEOUS_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_PNEUMOTHORAX FLCN COL3A1 DZIP1L ADAMTS2 SFTPB TGFBR2 PKHD1 HP_PULMONARY_INFILTRATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INFILTRATES LPIN2 FOXP1 ERAP1 TLR4 ASXL1 GBA CASP10 HLA-DRB1 HLA-DPA1 FAS UBAC2 CCR1 BCL10 PDGFRA CTLA4 RAB27A RUNX1 STAT4 MYD88 IRF5 MEFV SMPD1 HLA-B KLRC4 IL23R RASGRP1 CCN2 IL10 IL12A CCR6 UBA1 TSC1 TSC2 CAV1 HLA-DPB1 PTPN22 PRTN3 SRSF2 PRKCD IL12A-AS1 BACH2 MALT1 TET2 IL2RA IFNGR1 CBL C4A BIRC3 BTNL2 APOE SFTPB FASLG ASAH1 HP_ABNORMALITY_OF_THE_CEREBRAL_VENTRICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_VENTRICLES WDR35 KDM1A CCDC174 NODAL PDHX FKRP SOX4 YY1 ARMC9 ERCC3 EVC CHD3 ADGRG1 SF3B4 TINF2 SHANK3 NADK2 BRCA1 FGFR1 ZIC1 NPHP3 BICD2 DISP1 GRIN1 CCDC22 MMACHC TUBB EOGT CYFIP2 TNNI3 B9D1 CCDC114 PHACTR1 NOTCH1 KANSL1 CEP55 IDS ZBTB24 FGFR2 DNMT1 LIG4 SMARCB1 MAGEL2 PAX6 FAM20C PIK3R2 HDAC8 FKTN CTNNB1 RAC1 SNRPN SLC29A3 GRN SEPSECS TBX15 CCDC103 KIFBP NSD2 TSC2 DHCR7 ASXL1 FANCM NDE1 POMT1 SIX3 THOC6 KATNIP KIAA0586 ERF NDN ARX LRRC6 VPS13A KIF7 EP300 HEPACAM NFIA B3GALNT2 TMEM107 BRF1 VSX1 GAS8 MAP11 GPC3 DEAF1 PAFAH1B1 PIK3CA GFM2 XRCC2 GP1BB BRSK2 RFWD3 TXN2 MUSK COL18A1 DNAH9 TMEM237 HERC2 PMPCA DYNC2I2 MKS1 LAMA1 NF1 KCNK4 ACTB TMEM67 KANK1 VAC14 GLB1 ERCC8 TRAF7 PTCH1 SHPK SLC20A2 DLL1 AKT1 DNAAF1 MSL3 MBTPS2 GAS1 CLCN7 AHI1 MAST1 NDUFS2 TRPS1 FTO DHX37 TP53 SPECC1L WDR73 GALC NPAP1 SNX10 EBP RAD51 MT-ATP6 POMGNT1 SMC3 SNORD116-1 RAB11A MED12L DPH1 CCND2 STXBP1 KDM5B POMK RECQL4 PTPN23 MOCS1 GNAO1 NCAPG2 GLUL IFT172 COL4A1 FANCD2 COMT RHOBTB2 MKRN3 SNORD115-1 MED25 NRAS GMPPB ERCC2 MRPS16 KATNB1 CTDP1 TCTN1 TYROBP NAA10 BUB3 UGDH TCTN2 TRPM3 TMEM216 HDAC6 TDGF1 L1CAM HECW2 PDHA1 TUBA8 SMARCD1 TNFRSF11A SPEF2 FGFR3 RTEL1 B4GAT1 TMEM138 MAP2K1 TRAIP C12orf57 B3GLCT PPP1CB GLI2 GBA EHMT1 D2HGDH DCX DNAAF2 CENPJ SIK3 GTF2H5 ZSWIM6 NSUN2 WNT3 FBP1 TTC25 KIRREL3 AKT3 NF2 OCA2 FGF8 CEP120 SLC25A24 BMP2 NDUFB11 ROGDI ATXN3 B4GALT1 PDGFRB NDUFB8 NSD1 TAF1 ERCC5 RNASEH2A CLIC2 EEF1A2 FANCC ASNS KMT2D DDX3X TRPV4 SET ARID1A PIBF1 PPP2R1A BMP4 ZEB2 RNF113A CIC TRNT1 TAF13 IFT80 DAG1 OCRL ZIC2 CIT BRAF SMARCC2 WAC TBCK LRRC32 ATP6V0A2 HCCS GABBR2 MAD2L2 COG8 KIDINS220 EMG1 KNSTRN CCDC39 PPP1R12A ASXL2 FBXW11 PYCR1 TSEN2 TRAPPC6B RERE PLPBP MRE11 SEC31A NME8 TET3 SURF1 DOK7 PTDSS1 CCDC151 SUMF1 PIGV GCDH USP9X PIGN UFD1 VPS53 TCIRG1 FOXF1 SLX4 AMER1 NANS COL4A2 MBD5 SMC1A KAT8 ANKRD11 POLR2A TNFSF11 TBC1D24 NUP188 ZNF462 ALG13 OCLN INTU ZMYND10 TSC1 MYORG CSNK2B DNAAF6 POMT2 DNAI1 TPRKB ESCO2 SEC24D PALB2 WDR45B MTHFR RAI1 ZIC3 CRPPA RPS6KA3 TGFBR2 DNAAF4 EZH2 HNRNPU DYRK1A ADAR KIF1A KNL1 PIK3CD DENND5A SASS6 WASHC5 ZMIZ1 PDGFB SMARCE1 MEF2C DNAH11 APC2 PSAT1 SON CEP290 SUFU TSEN54 IDUA EML1 STRADA CEP41 SETD2 DHX30 FANCE EPB41L1 CHST3 FBN1 NOTCH2NLC SHH MAF JMJD1C MT-CYB SYNGAP1 FOXH1 PTCH2 ATP6AP2 CPLANE1 SMO FIG4 SPAG1 PPP2CA WDR62 ERCC4 IFT43 SIN3A KRAS TMEM231 QARS1 HYDIN TBCD NFIX HYLS1 TUBA1A PORCN ASPM PIGQ CC2D2A PLAA PEX10 SOX11 STIL MYMK IGF2 TMTC3 METTL5 TREX1 SLC13A5 ANKLE2 ZC4H2 NIPBL HERC1 FANCB JAM2 CDON PIEZO2 PRDM16 DRC1 LONP1 COPB2 CLCN4 LARGE1 CEP57 CSF1R ZNF335 CNNM2 TARS1 CENPF FANCF PEX19 CDCA7 PPP2R5D DMPK SLC12A6 PHGDH COX7B NPHP1 ZNF423 STAG2 MFSD2A ZBTB20 ODC1 CHD7 ARVCF GLI3 WDPCP FLI1 COX8A PLG GUSB CPT2 TSEN34 RPGRIP1L STAC3 HTT HRAS FARS2 CSPP1 SLC18A3 PUF60 FANCL WARS2 CRB2 KCNQ1 KCNQ1OT1 LAMB1 VANGL2 HS6ST2 PUS3 DNAJB13 TGIF1 CDK5RAP2 POMGNT2 PIGU KLHL7 RSPH3 P4HB KLHL15 ZBTB11 TBL1XR1 DKC1 RNASEH2B RAC3 BUB1B RSPH4A SUCLA2 HBA1 TBX1 KIAA1109 AP1S2 ARID2 BCOR FANCI SAMHD1 SKI CEP152 CHST14 RPGRIP1 ZNHIT3 TSEN15 HIBCH ZMYND11 HBA2 B3GALT6 CPLX1 SEC24C RBPJ WDR81 TAOK1 NEXMIF CYP26C1 NEU1 SETBP1 MYT1L CCNO RSPO2 GNAQ ASH1L EOMES SEMA3E SLC17A5 NEK10 CCDC65 FRAS1 SPG11 OTUD6B RSPH1 GAS2L2 TRIM37 MAG INPP5E EGF NGLY1 DNAL1 POR ARHGAP31 DYNC2H1 ACTA2 CTSK WDR26 SHOC2 DHCR24 PWAR1 DNAI2 CASK SHMT2 C2CD3 WDR4 MTM1 MPLKIP MCPH1 NUP88 DNAH1 CDH15 FAM111A SNIP1 CDKN1C RNASEH2C CEP83 SOX9 NOTCH2 DCHS1 ATXN2 DOCK8 OFD1 XPR1 UBTF CEP104 MAB21L1 IFIH1 DNAAF3 SMARCA4 LMBR1 PDHB USP7 NID1 PIGB EIF2S3 DNAAF5 DPF2 CDKN2A LMNB2 PMM2 DISC1 CLTC GRM1 DNMT3A PYCR2 COG5 PHC1 LETM1 POLR3A FLNA MTRR VANGL1 TBXT GNAS SMG9 GPC4 COL3A1 HIVEP2 SLC39A8 NDUFAF3 TGFBR1 CCL2 PPP3CA DYNC1H1 IFNG ACTG1 ERMARD B3GAT3 AMPD2 CREBBP TREM2 AHCY OSTM1 CTCF PTEN TP53RK KCNAB2 ANTXR1 ACD TUBB2A RSPH9 EVC2 COX20 HSD17B4 GRIN2B KCNQ5 SLC2A1 ATP6V1A CAMK2A CFAP43 NDUFA6 HTRA2 CDC42 SLC25A1 OSGEP ARMC4 SLC35A2 KAT6B SLC9A6 ACP5 KMT2C RNASET2 MTOR SOX2 PIGG GABRD TRIP13 SLC25A19 UBE2T AP4E1 ATP6V1E1 YWHAE RAD21 TRIM71 TSFM CSGALNACT1 FOXP3 RAB18 RPGR MFN2 KDM6A SH2B1 EXTL3 COG6 FLII ARID1B PARN VPS33A RXYLT1 BUB1 NUP133 FOXRED1 GTF2E2 TERT AP4B1 RREB1 DNMT3B MOCS2 USP18 TBCE CFAP298 CACNG2 HIRA ARSI RRAS2 VPS37A BAP1 ZNF148 VPS51 STK36 PEX1 MAN2B1 CAMK2B MTHFS JAM3 ERCC6 DSE MED12 SETD5 SIM1 ARL13B RAD51C PRNP TRAPPC12 TGDS ISCA1 PNKP TUBGCP2 TUBB2B THOC2 OPHN1 ALDH7A1 MYOD1 TMCO1 IQSEC2 VPS11 PRKAR1A SMOC1 MDM2 FOXJ1 KIAA0753 TUBB3 CHD4 PRDX1 ATP1A1 CEP135 MAP2K2 DLL4 COX6B1 TAPT1 GFAP CFAP300 CEP63 FUZ DNAH5 NCAPD3 CCDC40 OGDH CUL4B PCNT RNF125 BRIP1 TAF2 CILK1 EXOC8 LRRC56 KIF14 SAMD9 BGN PIGO CDK6 SLC6A9 CFAP221 B9D2 KMT2A CCDC88A CCDC88C DYNC2I1 WASF1 CLP1 EXT1 FAR1 RAPSN MC1R TTC12 FH AP4M1 XRCC4 NEK1 CTBP1 BRCA2 MPDZ PWRN1 ATXN1 ARL3 FGFRL1 DOCK6 LAGE3 ADNP CHEK2 RNF213 CTSC FLVCR2 TMX2 HK1 GPSM2 CUX1 MCIDAS FANCG RTTN CHAMP1 FANCA TCF4 FAT4 NUP107 ARSB HELLS SCO2 UBE3B HP_VENTRICULOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULOMEGALY WDR35 CCDC174 FKRP SOX4 YY1 ERCC3 EVC CHD3 ADGRG1 TINF2 SHANK3 NADK2 BRCA1 FGFR1 ZIC1 NPHP3 BICD2 GRIN1 CCDC22 TUBB CYFIP2 TNNI3 CCDC114 PHACTR1 KANSL1 CEP55 DNMT1 MAGEL2 PAX6 HDAC8 FKTN RAC1 SNRPN GRN SEPSECS CCDC103 KIFBP NSD2 DHCR7 ASXL1 FANCM NDE1 POMT1 THOC6 KIAA0586 NDN ARX LRRC6 VPS13A KIF7 HEPACAM NFIA B3GALNT2 TMEM107 BRF1 GAS8 MAP11 DEAF1 PAFAH1B1 PIK3CA GFM2 XRCC2 BRSK2 RFWD3 COL18A1 DNAH9 HERC2 PMPCA DYNC2I2 MKS1 LAMA1 KCNK4 ACTB TMEM67 KANK1 GLB1 TRAF7 SHPK SLC20A2 DNAAF1 MSL3 MBTPS2 MAST1 NDUFS2 TRPS1 FTO SPECC1L NPAP1 EBP RAD51 MT-ATP6 POMGNT1 SMC3 SNORD116-1 RAB11A MED12L DPH1 STXBP1 KDM5B POMK PTPN23 MOCS1 GNAO1 GLUL IFT172 FANCD2 RHOBTB2 MKRN3 SNORD115-1 MED25 NRAS GMPPB MRPS16 KATNB1 CTDP1 TYROBP NAA10 BUB3 UGDH TCTN2 TRPM3 L1CAM HECW2 PDHA1 SMARCD1 TNFRSF11A SPEF2 RTEL1 B4GAT1 TMEM138 TRAIP C12orf57 B3GLCT ERCC2 GBA EHMT1 D2HGDH DCX DNAAF2 CENPJ GTF2H5 ZSWIM6 FBP1 TTC25 KIRREL3 OCA2 BMP2 ATXN3 B4GALT1 PDGFRB NDUFB8 NSD1 TAF1 RNASEH2A EEF1A2 FANCC ASNS KMT2D DDX3X CEP120 SET ARID1A PPP2R1A BMP4 ZEB2 RNF113A CIC TAF13 IFT80 DAG1 OCRL CIT SMARCC2 WAC TBCK LRRC32 ATP6V0A2 GABBR2 MAD2L2 COG8 KIDINS220 EMG1 ROGDI KNSTRN CCDC39 PTCH1 ASXL2 FBXW11 TSEN2 TRAPPC6B RERE PLPBP MRE11 SEC31A NME8 TET3 SURF1 DOK7 CCDC151 GCDH USP9X PIGN VPS53 FOXF1 SLX4 NANS COL4A2 MBD5 SMC1A KAT8 ANKRD11 POLR2A TBC1D24 NUP188 ZNF462 OCLN INTU ZMYND10 MYORG CSNK2B DNAAF6 POMT2 PALB2 WDR45B MTHFR RAI1 CRPPA RPS6KA3 DNAAF4 EZH2 GPC3 B9D1 HNRNPU DYRK1A ADAR KIF1A KNL1 PIK3CD DENND5A SASS6 WASHC5 ZMIZ1 SMARCE1 MEF2C DNAH11 APC2 PSAT1 TMEM216 SON CEP290 FGFR2 TSEN54 EML1 STRADA SETD2 DHX30 FANCE EPB41L1 FBN1 NOTCH2NLC SHH MAF SYNGAP1 ATP6AP2 FIG4 SPAG1 PPP2CA WDR62 IFT43 SIN3A TMEM231 QARS1 HYDIN TBCD NFIX TUBA1A ASPM PIGQ CC2D2A PLAA SOX11 STIL MYMK IGF2 SUFU TMTC3 METTL5 TREX1 SLC13A5 ANKLE2 ZC4H2 NIPBL HERC1 JAM2 PRDM16 DRC1 LONP1 COPB2 CLCN4 LARGE1 CEP57 CSF1R ZNF335 CNNM2 TARS1 FANCF PPP2R5D DMPK PHGDH MFSD2A ODC1 CHD7 WDPCP FLI1 COX8A PLG CPT2 DLL1 TSEN34 RPGRIP1L STAC3 HTT HRAS FARS2 CSPP1 SLC18A3 PUF60 FANCL WARS2 CRB2 KCNQ1 KCNQ1OT1 HS6ST2 FGFR3 PUS3 DNAJB13 CDK5RAP2 POMGNT2 KLHL7 RSPH3 KLHL15 ZBTB11 TBL1XR1 DKC1 RNASEH2B RAC3 BUB1B RSPH4A SUCLA2 KIAA1109 AP1S2 ARID2 BCOR SAMHD1 SKI CEP152 CHST14 RPGRIP1 ZNHIT3 TSEN15 HIBCH ZMYND11 SUMF1 CPLX1 WDR81 TAOK1 NEXMIF SETBP1 MYT1L CCNO FANCB ASH1L EOMES SEMA3E PDGFB NEK10 CCDC65 SPG11 OTUD6B RSPH1 GAS2L2 TRIM37 MAG EGF NGLY1 INPP5E DNAL1 DYNC2H1 ACTA2 WDR26 AKT3 DHCR24 PWAR1 DNAI2 CASK SHMT2 C2CD3 MPLKIP MCPH1 NUP88 DNAH1 CDH15 SNIP1 CDKN1C RNASEH2C SOX9 DCHS1 ATXN2 DOCK8 OFD1 XPR1 UBTF MAB21L1 IFIH1 DNAAF3 SMARCA4 PDHB USP7 NID1 PIGB EIF2S3 DNAAF5 DPF2 LMNB2 PMM2 DISC1 CLTC GRM1 DNMT3A PYCR2 COG5 PHC1 LETM1 POLR3A MTRR SMG9 WDR73 COL4A1 GPC4 COL3A1 HIVEP2 SLC39A8 NDUFAF3 PPP3CA DYNC1H1 ACTG1 AMPD2 TREM2 AHCY CTCF KCNAB2 ERCC4 ANTXR1 ACD TUBB2A RSPH9 AHI1 EVC2 COX20 HSD17B4 GRIN2B KCNQ5 ATP6V1A CAMK2A NDUFA6 HTRA2 PDHX ARHGAP31 CDC42 SLC25A1 CCND2 OSGEP ARMC4 SLC35A2 SLC9A6 ACP5 KMT2C MUSK RNASET2 MTOR SLC12A6 GABRD CTNNB1 TRIP13 SLC25A19 UBE2T AP4E1 ATP6V1E1 YWHAE DNAI1 RAD21 SMARCB1 TRIM71 TSFM CSGALNACT1 FOXP3 RAB18 RPGR NDUFB11 SMO KDM6A SH2B1 EXTL3 COG6 FLII ARID1B PARN RXYLT1 BUB1 PIEZO2 FOXRED1 GTF2E2 HYLS1 TERT ARMC9 AP4B1 MOCS2 USP18 TBCE OSTM1 CFAP298 CACNG2 RRAS2 VPS37A ZNF148 VPS51 STK36 CAMK2B MTHFS JAM3 FANCI DSE SETD5 SIM1 RAD51C PRNP TRAPPC12 KRAS TGDS ISCA1 PNKP TUBB2B THOC2 OPHN1 ALDH7A1 MYOD1 TMCO1 IQSEC2 VPS11 FOXJ1 KIAA0753 TUBB3 MED12 CHD4 ATP1A1 CEP135 COX6B1 TAPT1 CFAP300 CEP63 DNAH5 NCAPD3 CCDC40 CUL4B PCNT RNF125 BRIP1 CILK1 LRRC56 KIF14 BGN PIGO CDK6 SLC6A9 CFAP221 B9D2 KMT2A GLI3 CCDC88A CCDC88C PPP1CB DYNC2I1 WASF1 CLP1 EXT1 FAR1 RAPSN TTC12 TMEM237 AP4M1 XRCC4 NEK1 CTBP1 BRCA2 MPDZ PWRN1 ATXN1 TPRKB FGFRL1 ADNP RNF213 FLVCR2 TMX2 HK1 GPSM2 CUX1 MCIDAS FANCG RTTN CHAMP1 FANCA TCF4 FAT4 SCO2 UBE3B HP_CEREBRAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_ATROPHY CLIP2 SPG11 RPS6KA3 VCP PPP2R2B FBLN1 RNF113A AP4M1 SLC25A15 HNF1B ACO2 SCYL2 TINF2 KDM6A PIGV SPATA5 BICD2 VPS35 MYT1L PIGN XPC DDB2 DNAJC13 PIGL ZNHIT3 ASXL1 GMPPB MT-ND1 FGFR1 PARN POLR3A TRMT1 CYB5A PHACTR1 ACTL6B TOMM40 GNAQ MAGEL2 JPH3 FBXW11 TBC1D20 SPG7 RAB3GAP2 PYCR2 HDAC8 FRMPD4 MYO7A SNRPN GRN GTF2E2 CPA6 MED13 FMR1 EMX2 TERT NEXMIF GTF2IRD1 ALDH18A1 GTF2I POGZ SETBP1 B4GALNT1 POMT2 ABCA7 NDE1 AP4E1 GRIN1 IKBKG TSEN54 ACTL6A TANC2 TRRAP NDN MT-CO1 RFC2 WHRN GLYCTK VPS13A PLK4 USH2A MT-TS2 PRUNE1 RAB3GAP1 CDH23 SQSTM1 AP1S2 MEF2C DYRK1A MAN2B1 KIF1A EPG5 TBL2 MT-ND5 DOCK3 NRXN1 DDX6 LIPT2 TWNK USH1C LMNB1 SMC1A ADGRV1 BCAP31 SETD5 ATP13A2 PSEN1 MT-ND6 COG1 CPLX1 OCLN ERCC5 SLC39A4 MYO5A SACS PRNP TRAPPC12 KRAS SKI XPA PSEN2 RAB18 LIMK1 RFT1 CNTNAP2 OPHN1 MPLKIP POLR3B ALDH7A1 MBTPS2 GRM7 EIF4G1 PLPBP TMCO1 MT-TL1 NTNG1 TCF20 BRAF PGAP1 MT-TH CIB2 HSD17B10 MAF SPECC1L TMEM70 LRRK2 CAMTA1 MT-ATP6 GBA ZMIZ1 SMC3 PRDX1 MARS2 MAP2K2 USH1G CYB5R3 NOVA2 CISD2 ERCC3 UBTF MAPT YWHAE DOCK7 PDE6D TREM2 MECP2 NDP PIGA GBA2 KMT2E HRAS GPKOW RHOBTB2 PDZD7 CACNA1E POMT1 CASK RNF125 CLCN4 EHMT1 MT-TF PCDH15 STUB1 TUBGCP6 LARGE1 VPS13C SLC39A8 CTDP1 TYROBP PLAA SVBP ATRX ACTG1 MT-CO3 PIGS AMPD2 PEX7 DGUOK MUC1 SLC13A5 ERCC6 MT-TQ NIPBL AP4S1 HERC1 RTEL1 ACTB GUF1 KCNAB2 PRDM16 KMT2A GRIA4 SNX14 MAP2K1 OCA2 SNCA UBE3A CHCHD10 PAFAH1B1 B3GLCT ERCC2 AP4B1 ACD MVK TARS1 ESPN CLP1 TCTN3 TRAK1 GTF2H5 SLC35C1 DMPK TBCD EXOSC8 KCNT1 RLIM ARX NEK1 IARS2 SIX3 NUS1 MMADHC CDC42 BPTF TSEN15 C9orf72 CIZ1 CHMP2B SLC9A6 RNU4ATAC DOLK MMACHC GABRA5 FA2H OTUD6B TUBGCP4 KMT2D PUS3 PSMD12 TMEM106B APP BMP4 BCORL1 SHH BAZ1B ELN GABRD GIGYF2 MT-TW TBK1 EXOC7 WFS1 ADARB1 RMND1 MT-ND4 SORL1 PARS2 ERCC4 VARS1 ATXN2 UGP2 KLHL7 WDFY3 RAD21 ALS2 ERCC1 TRAPPC9 TRAPPC4 TRAPPC6B MT-CO2 RERE FKRP DKC1 HIC1 HP_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYMICROGYRIA DCPS IQSEC1 PEX11B FKTN TUFM WDR62 FKRP GNB1 ARMC9 C2CD3 ADGRG1 DLL1 SF3B4 LONP1 TP53RK MBOAT7 SUZ12 KIAA0586 RPGRIP1L C12orf4 DAG1 BICD2 DOCK6 PTCH1 CLIP1 MTOR LARGE1 B9D1 PEX6 INPP5E DISP1 MAPK8IP3 MBD5 RXYLT1 ZNHIT3 ZMYND11 NODAL NDST1 WT1 MAGEL2 TBC1D20 PEX2 PIK3R2 MED23 RAC1 SNRPN TBC1D24 TAOK1 OCLN CRBN MYT1L CSNK2B KATNIP POMT2 FRRS1L USP18 TRRAP NDN CACNG2 SIX3 PRSS12 ASH1L EOMES POMT1 CRPPA CRADD B3GALNT2 PEX1 PHGDH CAMK2B DEAF1 FMN2 FGF8 BMPER PEX5 WASHC4 PEX26 PIK3CA SLC45A1 ATN1 FOXH1 TMEM67 PEX13 TCTN2 BRSK2 SON SNAP29 COL18A1 ARL13B POMK AKT3 EML1 TUBB2B FBXO31 SHMT2 CEP41 GRIK2 SARS1 METTL23 EPB41L1 CDH15 AHI1 DHX37 ERCC1 KIF5C RTTN LAGE3 ODC1 PEX3 KIF1A KDM5B TUBA8 DOCK8 DHCR24 SUFU SYNGAP1 TMEM237 TUBB3 CEP104 ZC3H14 MAP1B HYLS1 PEX14 RAB11A CPLANE1 MED12L CCND2 STXBP1 NSUN2 FIG4 KIFBP GRIN1 EIF2AK2 MN1 PIGB PEX12 RECQL4 PI4KA CSPP1 SRPX2 CC2D1A DISC1 POMGNT1 SRD5A3 CLTC GPHN MKS1 NSDHL PEX19 HNMT CUL4B TUBA1A FDFT1 COL4A1 COL3A1 HIVEP2 GMPPB MED25 KATNB1 LAMC3 TCTN1 PPP3CA DYNC1H1 PTEN TRPM3 TGIF1 ERMARD ACTG1 TMTC3 TUSC3 PGAP1 ZEB2 PDHA1 MAN1B1 SLC5A6 TNIK PEX10 EZR ACTB EDC3 POLR3A OCA2 TDGF1 CCDC88A PEX16 LINS1 GAS1 GLI2 MECP2 LMAN2L HSD17B4 GRIN2B KCNQ5 ATP6V1A CAMK2A AIMP1 NPHP1 FH KIRREL3 ARHGAP31 CPT2 CEP120 ST3GAL3 ARL3 IBA57 TUBB EEF1A2 SCN3A TRAPPC9 RAB3GAP2 SET RSRC1 PIBF1 CDON CIC TMX2 TECR PAX6 GPSM2 CUX1 CHAMP1 ATP6V1E1 ATP6V0A2 ZIC2 POMGNT2 SMO SHH PIGC PPP1R12A B4GAT1 TCF4 PSAT1 KLHL15 RAB18 HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY TARDBP PNPLA6 SETX SQSTM1 POLR3B GBE1 ALS2 ERLIN2 MATR3 SPG7 FUS POLR3A VCP TYROBP SIGMAR1 C9orf72 TBK1 ALDH18A1 CHCHD10 HP_EPISODIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_ATAXIA SIK1 SLC6A19 GNAO1 CACNA1A ARX SLC2A1 OTC ATP1A2 SCN1B STXBP1 NEUROD2 SCN2A SLC25A22 NFIX SLC1A3 PDHA1 ATP1A3 KCNA1 DMXL2 PIGP CACNB4 CASK CDKL5 TRIM8 PIGQ PNKP HP_PORENCEPHALIC_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORENCEPHALIC_CYST RNASEH2B ADAR KIF1A SNRPB DLL4 RBPJ RNASEH2A TREX1 LAMB1 KRAS TCTN3 FGFR1 ARHGAP31 DOCK6 COL4A1 SAMHD1 RNASEH2C GPX4 NRAS EOGT ZNHIT3 COL4A2 NOTCH1 OFD1 HRAS IFIH1 HP_STATUS_EPILEPTICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS KCNMA1 JRK UNC93B1 ARV1 TRAK1 CDKN1A ATXN10 ALDH7A1 NTRK2 STRADA NEXMIF GABRG2 SYNJ1 SLC1A2 KCNQ2 GABRA1 CARS2 SCN2A GRIN1 HCN1 EPM2A MBD5 GABRB2 ZMYND11 DIS3L2 NECAP1 EFHC1 IQSEC1 UPB1 TAOK1 CACNB4 SZT2 SCN8A MYT1L CTSD CSNK2B MRM2 GABRD CILK1 STXBP1 CACNG2 PCDH19 ASH1L VPS51 SLC2A1 SCN9A KCNQ3 CLCN2 CAMK2B CHD2 CLTC DEAF1 CDKN1B GABRA2 TWNK STX1B CACNA1A DNM1L TIMM50 TBC1D24 BRSK2 TBK1 CDK19 ATP6V0A2 SYNGAP1 SCN1A PRODH ALDH5A1 CARS1 PET100 ATP6V1A ATP1A2 RNU4ATAC KCNT1 GPAA1 GRIA3 GRM7 PLPBP SCN3A EPB41L1 FOXG1 SMARCA2 CDH15 KCNA2 NARS2 FGF12 VAMP2 KIF1A ATP1A3 DOCK8 DHCR24 YWHAG ATP1A1 RAB11A COX10 MED12L SCN1B FIG4 KDM5B ASAH1 LMNB2 QARS1 CDKN2C KCNB1 RHOBTB2 TSC2 CACNA1E COG8 POLG EHMT1 HIVEP2 ARX ITPA PRRT2 AARS1 PPP3CA DYNC1H1 DALRD3 PDSS2 TRPM3 GRIN2D CDKN2B SLC6A1 BSCL2 NHLRC1 SLC13A5 SVBP TRAF3 MEN1 AP3B2 GRIA4 CCDC88A TLR3 KIF11 ST3GAL5 GRIN2B PNPO NUS1 KCNQ5 TICAM1 CAMK2A COX7B FH KIRREL3 TRAPPC2L ODC1 NDUFB11 ADGRV1 AP2M1 GABRA5 CYFIP2 EEF1A2 WWOX TSC1 UBA5 CACNA1B SET CNKSR2 SLC19A3 CIC SLC12A5 PARS2 CUX1 CAD CHAMP1 HCCS ACTL6B AMACR DNM1 TCF4 DHDDS ECE1 HP_ABNORMALITY_OF_THE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BASAL_GANGLIA DCPS IQSEC1 RNASEH2B MT-ND4 NDUFA4 DNM1L IFIH1 NDUFA13 SURF1 GLI3 HTT ERCC3 ERCC4 ERCC6 FDXR LRRK2 FTL LONP1 MBOAT7 PDGFRB KCNQ2 AP1S2 GCDH C12orf4 SAMHD1 CLIP1 MT-ND1 MT-ATP6 MAPT HIBCH NANS CYB5A NDUFA10 GLUD2 NDST1 POLR2A JPH3 MED23 DLAT PSMB8 ATXN2 ZEB2 FOXP2 PET100 CRBN AIFM1 PDGFB COQ2 NDE1 SCO2 MRM2 ADH1C FRRS1L KIAA0586 MT-CO1 NDUFA12 PRSS12 VPS13A MT-TV MT-TS2 CRADD SLC20A2 PDHA1 ADAR ATR PDE10A PDSS2 FMN2 MT-ND5 FAM111A WASHC4 SLC45A1 GFM1 GCH1 SNCA FBXO7 MT-ND6 GTPBP3 CYP2U1 PRNP NUP62 TUBB2B FBXO31 ERCC8 ASPA RFT1 GRIK2 OPHN1 SARS1 C19orf12 MT-TL1 COASY METTL23 ATXN3 ACVR1 TBCE NDUFS2 NDUFS8 MT-TH NDUFS1 SUCLG1 SLC44A1 LIPT1 RNASEH2C TACO1 KDM5B ATP13A2 NDUFA9 TUBB3 MT-TK ZC3H14 NDUFV1 NSUN2 TREX1 CYB5R3 EIF2AK2 SLC46A1 TYROBP CC2D1A NR4A2 HSD17B10 CNTNAP1 SLC2A3 GBA ECHS1 FOXRED1 GNAS PANK2 HNMT SLC30A10 MT-TF JAM2 NADK2 MED25 NDUFAF3 PNPT1 GJA1 B3GALNT2 NDUFS3 BSCL2 MT-CO3 TUSC3 PGAP1 HTRA1 MTFMT NDUFAF6 VRK1 MT-ND2 SUCLA2 MT-TQ MAN1B1 TNIK GNA11 EZR EDC3 XPR1 ETHE1 POLR3A FASTKD2 AUH LINS1 DCX LMAN2L COX15 MMUT MFF GSX2 NDUFV2 AIMP1 MT-TW NDUFS7 RNASEH2A COQ8A PDHX TBP CPT2 PLA2G6 ST3GAL3 SLC19A3 NDUFB8 ATXN8OS FA2H CASR TRAPPC9 RANBP2 SDHA RSRC1 OPA1 CSPP1 CLPB WDR45 NDUFAF2 DNAJC19 NDUFAF5 PDE8B SYT1 TECR TIMM8A TBCK CA2 SNCAIP ISG15 MT-ND3 NDUFS4 TK2 PIGC TREM2 MICU1 MT-CO2 CP NDUFA2 PRKN HP_BASAL_GANGLIA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CALCIFICATION TREX1 RNASEH2B DNM1L MT-ND5 IFIH1 ERCC6 FAM111A SLC46A1 ERCC3 ERCC4 TYROBP ERCC8 PDGFRB GNAS MT-ND6 CASR MT-ND1 MT-TF JAM2 OPA1 GJA1 MT-TW PSMB8 MT-CO3 MT-TL1 CYP2U1 ACVR1 PDGFB MT-TQ MT-TH GNA11 SAMHD1 MT-ND4 XPR1 MT-CO1 CA2 ISG15 MT-TS2 TREM2 SLC20A2 MT-CO2 HP_BROAD_BASED_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_BASED_GAIT VLDLR CCDC88C SATB2 RBM10 PIEZO2 NRXN1 PEX5 SNX14 CHD3 MAN1B1 XRCC4 ADGRG1 TRPV4 SHANK3 DEAF1 PACS2 CUL4B GBA2 TRIM2 TRMT10A AP5Z1 SGCB TBP PPP1R15B RLIM GALC GPT2 ITPR1 ATCAY WDR26 CARS1 DDX3X DYRK1A TKFC HTT TBC1D23 SMS ATP10A RAI1 PPM1D ZEB2 MYOT RNF113A TOP3A SIM1 THRA DLAT BCORL1 KCND3 HACE1 GBA ACTL6B PIGL KMT2A ZSWIM6 DNAJC12 UBE3A CDK10 PURA CAD SGCG SNRPN MECP2 EXT2 TMEM106B YWHAG TPP1 FLVCR1 MTTP OCA2 CERT1 UROC1 EBF3 MAP1B MED12 RNU12 WASF1 GTF2E2 COQ2 HP_SUBARACHNOID_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBARACHNOID_HEMORRHAGE MFAP5 TGFBR1 SMAD3 LOX ACVRL1 ENG MAT2A CD109 TGFBR2 GP1BA GP1BB SMAD4 RASA1 PRKG1 FOXE3 TGFB2 ITGB3 F10 ANGPTL6 ELN MYH11 COL3A1 TGFB3 ITGA2 ACTA2 DOCK8 TGFBR3 ITGA2B THSD1 GDF2 FBN1 MYLK HP_ARRHINENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARRHINENCEPHALY RNASEH2B ADAR VANGL1 SEC24C GLI3 TBX1 TBC1D24 HYLS1 FIG4 RNASEH2A TREX1 SF3B4 GP1BB ARVCF RREB1 FANCB KIF7 CHD7 SAMHD1 COMT RNASEH2C SMOC1 UFD1 HIRA JMJD1C SEMA3E FUZ IFIH1 VAC14 HP_ISCHEMIC_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ISCHEMIC_STROKE MFAP5 TGFBR1 LOX BRCC3 ACVRL1 ENG MAT2A TGFBR2 SMAD3 PRKG1 FOXE3 NOTCH3 TGFB2 COL4A1 SON ELN MYH11 GUCY1A1 TGFB3 SLC2A10 ACTA2 PIK3C2A FBN1 MYLK SMAD4 HP_GAIT_IMBALANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_IMBALANCE HTT CLIP2 TELO2 TBL2 VPS13C ADGRG1 FXN ATXN10 ERLIN2 MAPT UCHL1 PODXL DEAF1 SLC2A3 KAT6A LRRK2 TAF1 TTBK2 ALS2 ELN MLXIPL PUS3 BBS1 PIK3R5 VCP GALT BAZ1B LIMK1 ATXN1 PINK1 PIGG ATP5F1D GTF2IRD1 HTRA2 GTF2I CCDC28B DNAJC6 HK1 FLNC UBE3A SNCA RNASEH1 PRKN ARL6 RFC2 PMP22 RRM2B OCA2 PARK7 SETX SYNJ1 CHD4 HP_ABNORMALITY_OF_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINAL_CORD CLIP2 GCLC EXT2 COLEC10 PUF60 SOX4 HES7 COL2A1 FBLN1 C11orf95 TBX1 PRMT7 TGFBR2 MFN2 RMRP KCNH1 ARID2 PRKG1 BRCA1 DNAJC3 ZIC1 SH2B1 EXTL3 HBB ITGB4 PAX3 A2M ABCD1 CCND1 GDF6 BTD UFD1 MMACHC ARID1B ALDH18A1 NAXE FOXF1 ACTA2 SLX4 AMER1 KANSL1 CREBBP SLC33A1 IDS MTR LARGE1 RAI1 SMAD4 PRPS1 PDCD10 LEMD3 LIG4 FANCB CPLX1 KIF22 SEC24C FLNA ACVRL1 GLI3 NOTCH3 TBC1D24 SPG7 GTF2IRD1 GTF2I TBX6 NSD2 SMAD3 FANCM CCT5 ATXN3 RREB1 IKBKG KIAA0586 TDP1 RFC2 PNPLA6 PALB2 DARS2 ELN MYH11 MTHFR AKT1 HIRA FIBP EP300 NFIA FLNB TWNK FBN1 MYLK MTHFD1 FRAS1 DDR2 PHGDH IRF6 SNRPB TBL2 FXN PIK3CA FKRP FANCI MAFB NEK9 RELA SMARCB1 GLB1 XRCC2 MYH3 GP1BB LMNB1 FLI1 SMARCE1 CCNQ NELFA INPP5E CEP290 SUFU DKK1 SMARCA4 SALL4 RAD51C COMP MASP1 ALX4 HAAO BMP2 TNXB SLC26A2 LIMK1 TRAF7 MFAP5 POLA1 FLVCR1 APP KIF1B VHL ACY1 NEPRO FANCE GJB2 PTPN11 MNX1 POLG RNASEH1 TGFB2 ABCA1 LOX GRIP1 DNA2 ATXN2 JMJD1C RAD51 PTCH2 NF2 DLK1 CHRNG WNT7A POMT2 PLAU ENG MAT2A FUZ DACT1 RECQL4 MEOX1 GNPTAB DPF2 KRIT1 GDF3 RASA1 SIN3A PLEC LETM1 POMT1 FANCD2 COMT FOXE1 HMGA2 TRPV4 FA2H MINPP1 HFE VANGL1 TBXT MESP2 NF1 BRIP1 PORCN NRAS ACTB GALNS CCL2 RTN2 SOX11 RUNX2 SC5D SMARCD1 MEG3 CCBE1 RAB23 FOXE3 FKTN CYP7B1 PLP1 RTL1 RIPPLY2 TGFB3 B3GLCT PTCH1 ERCC4 BRAF NOTCH2NLC FANCF MSX2 WASHC5 DLL3 GTF2E2 SETD2 ZSWIM6 APC SETX NSUN2 LYST MAN2B1 KDM1A TRIM36 KCNQ1OT1 BMPER CTBP1 H19 ARVCF IGF2 BRCA2 MTRR ATXN1 COLEC11 FGFRL1 FOXC2 FANCC CHN1 EXT1 TNFRSF11A MAP3K7 POMGNT1 ARID1A NOTCH2 CSPP1 BMS1 HABP2 BAZ1B GNAS TGFBR1 B3GALT6 LMX1B GLRX5 GJB1 TMEM216 FREM2 FANCL NOS3 CTNNB1 IDUA GMPPB SLC25A19 VANGL2 CUL7 UBE2T RFWD3 SMARCC2 FANCG LZTR1 MPO CCM2 FANCA RAF1 MAD2L2 RRM2B LFNG DLL4 OFD1 B3GALNT2 RORA PSAT1 PHEX ARSB MORC2 APOE RBM8A HP_FRONTOTEMPORAL_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_DEMENTIA TARDBP PSEN1 CHMP2B SQSTM1 VCP ABCA7 DCTN1 MAPT TBK1 GRN TREM2 C9orf72 PLA2G6 CHCHD10 TUBA4A FUS HNRNPA2B1 TMEM106B TOMM40 ZFYVE26 PSEN2 APP PRKAR1B SORL1 UBQLN2 HNRNPA1 HP_HYPOPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIA KRAS GATM CLCN5 CLCN7 CTNS GABRA3 SLC34A1 VDR CDC73 ABCC6 CYP3A4 FGF23 FAM111A NRAS NDUFAF6 SLC2A2 TCIRG1 PHEX CYP27B1 ENPP1 HNF4A PTH1R TNFSF11 STAT6 CYP2R1 FAH GNAS OCRL FAM20C SLC9A3R1 SLC34A3 KCNJ18 COL4A3 NAB2 GCM2 CASR DMP1 ALDOB MEN1 SNX10 AP2S1 CACNA1S INPPL1 EHHADH HRAS HP_HYPERURICEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERURICEMIA ACAT1 HMGCL SLC37A4 SH2B1 SARS2 HPRT1 SEC61A1 G6PC MYC TNFRSF11A FBP1 UMOD PFKM MCFD2 MUC1 TNFRSF11B HNF1B PPARG PRPS1 EIF2AK3 ALDOB ALMS1 CLDN16 LMAN1 REN HNF4A HP_INCREASED_SERUM_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_LACTATE MT-ND4 NDUFA4 TUFM NDUFA13 SURF1 COX6A2 COX4I1 COX14 LONP1 SYNJ1 UQCRC2 LYRM7 NDUFB9 TMEM70 BCS1L TXN2 CARS2 NAXE MT-ND1 MT-TF HIBCH TK2 NDUFA10 MRPS22 SLC25A10 OCRL GTPBP3 MRPS34 PET100 LIAS PMPCB AIFM1 PNPO PC COQ2 SCO2 WARS2 SDHA MT-CO1 NDUFA12 TRMT5 DARS2 GFM2 RNASEH1 PNPLA8 TRMT10C NDUFA9 MT-TV MT-TS2 TANGO2 NDUFB8 AARS2 TWNK PDHA1 FDX2 SFXN4 PDSS2 MT-ND5 POLG2 LIPT2 TIMM22 PET117 COX5A POLG GFM1 TIMM50 MTO1 LIPT1 MT-TK TMEM126B MT-ND6 NDUFAF6 MT-TN ECHS1 GOT2 ISCA1 CHCHD10 SLC25A42 ACAD9 MT-TL1 MT-ATP6 MICOS13 UQCRQ NDUFS2 ADAMTS13 NDUFS8 MT-TH NDUFS1 NDUFA1 CYC1 NARS2 SCO1 ATAD3A MRPS28 HPDL MRPL44 NDUFV1 MTFMT COX10 LDHA ACAT1 SLC7A7 COX6B1 OGDH PYGL EARS2 SLC25A3 HSD17B10 MRPS14 ATPAF2 NDUFAF1 FOXRED1 RRM2B C1QBP SOD1 C12orf65 GYS2 MIPEP MRPS16 MT-TL2 NDUFAF3 PNPT1 MDH2 SERAC1 NDUFS3 MT-TI MT-CO3 DGUOK PUS1 MT-ND2 MT-TQ TACO1 FBXL4 TARS2 MPC1 MRPL3 FASTKD2 YARS2 UQCC3 RARS1 COX15 DNM1L COX20 NDUFV2 NDUFA11 MT-TW NDUFS7 HTRA2 COQ8A PDHX ISCU SLC19A3 SLC25A26 RARS2 COX8A HMGCL AGK PDSS1 FARS2 COQ4 CLPB NDUFAF2 DNAJC19 NDUFAF5 NGLY1 MRPL12 HS6ST2 COQ9 ACAT2 RMND1 TRMU DLD MT-ND3 NDUFS4 LRPPRC CA5A MECP2 UQCRB TSFM MT-CO2 NDUFA2 MT-TP SLC25A4 PDP1 HP_HYPERKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKALEMIA CYP11B2 CA12 NR3C2 LPIN1 MRAP SCNN1G SAMD9 CYP11A1 HSD3B2 GABRA3 KCNJ18 SCNN1A CUL3 NNT INVS SCN4A STAR ABCB6 KLHL3 TXNRD2 CACNA1S WNK1 SLC30A9 RYR1 SCNN1B MC2R SLC2A1 CYP11B1 WNK4 HP_HYPERTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRIGLYCERIDEMIA LRP6 RSPO1 LCAT SMPD1 CYP7A1 PPARG PHKA2 CIDEC TMEM43 LDLRAP1 PIGT ALMS1 CAVIN1 LEP LIPC FLII LMNA POLR3A BSCL2 PYGL PLIN1 SGPL1 FARSA JAG1 RAI1 POLD1 CEP19 PRF1 SLC29A3 AKT2 CAV1 PSMB8 PSMB4 SLC25A13 LIPA FHL1 XIAP MTX2 AGPAT2 PIGH HAVCR2 LIPE SLC7A7 XRCC4 LYST STXBP2 DEAF1 AGL UNC13D AEBP1 GPD1 PNPLA2 FECH TTPA NSMCE2 SLC2A2 APOA5 PHKG2 EMD ABHD5 FOS PSMB9 SYNE2 APOE IQSEC2 STX11 ABCA1 PLVAP LPL GK LEPR SYNE1 APOC2 MC4R HP_HOMOCYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOMOCYSTINURIA MTRR MTR MMADHC LMBRD1 HCFC1 MMACHC MTHFR PRDX1 CBS ABCD4 HP_HEPARAN_SULFATE_EXCRETION_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE HYAL1 HGSNAT IDS GUSB VPS33A GNS NAGLU SGSH HP_HYPERHOMOCYSTINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHOMOCYSTINEMIA MTR MMACHC MTHFR CBS MTRR LMBRD1 ABCD4 MMADHC PRDX1 AHCY HP_LOW_POSTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_POSTERIOR_HAIRLINE MEOX1 APC PPARG TBX15 NIPBL AEBP1 MAP2K1 XYLT2 GDF3 ABCC9 BRAF RRAS2 NFIX NRAS RASA2 KRAS LETM1 SPRED1 PHF8 GDF6 MAPK1 MADD UBE2A NANS CPLX1 RAB3GAP2 HDAC8 PTPN11 CAV1 NOTCH3 ACTG1 B3GAT3 NSD2 KCNJ8 ACTB CCDC22 KMT2A BSCL2 TFAP2A PPP1CB VPS51 AGPAT2 PEPD SALL4 RAB3GAP1 EFNB1 SRY SOS2 SRCAP PIK3CD ALDOA IGF1 A2ML1 MAFB HUWE1 EP300 CTBP1 SOS1 RAF1 SLC25A24 SMC1A NELFA SETD5 FGFRL1 CNOT3 CHN1 CREBBP CDH2 SHOC2 RRAS WASHC5 FOS ANKRD11 NF1 RIT1 TMCO1 CHST3 MYH3 CAVIN1 LZTR1 INTU GNE MRAS KNSTRN IRX5 CBL RAD21 MYO18B SMARCD1 SMC3 PIK3C2A MAP2K2 CHRNG HP_NAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSPLASIA TP63 IFT43 RPS6KA3 GLI3 VEGFC EVC SOST RNF113A PTDSS1 WNT5A SHANK3 LAMB3 PIGV FLT4 ATR CTC1 SUZ12 ATP2A2 KRT5 TERT CPLX1 PLCD1 COL7A1 ITGB4 GTF2E2 TBC1D24 TINF2 HLA-C KCTD1 NSD2 IKBKG BHLHA9 TRRAP LAMA3 SMARCD2 FOXN1 PLEC ALG3 GLI1 GJB2 NECTIN1 EOGT EZH2 GPC3 LMX1B TFAP2A NFKB2 RNF13 WNT10A PRKACA RIPK4 EXT2 NHP2 SLC39A4 CTSK LRP4 IHH MSX1 DVL3 DYNC2LI1 ORC1 BMP2 HRAS SETBP1 KRT86 SATB2 INSR ATL1 MPLKIP ANAPC1 MBTPS2 SLURP1 GJC2 KRT83 DVL1 GJB6 EVC2 CLEC7A ROR2 PLOD3 KRT14 KRT17 FZD2 KIF22 TRAF3IP2 WNT7A GJA1 RECQL4 NOP10 KRT85 LAMC2 ERCC3 TRPS1 PEX7 NXN LETM1 EED UBE2A PORCN GPC4 FZD6 STIM1 EDA BMP4 IL17RC KRT16 WDR35 ERCC2 ANTXR1 STXBP1 TARS1 EFNB1 SRY MMP1 ABCA1 GTF2H5 PRKACB TGM1 IL17RA FERMT1 TERC CTBP1 EDAR DSP EDARADD WRAP53 RNU4ATAC FGFRL1 TAF1 SREBF1 FHL1 IL17F POMP TRPV3 LPAR6 ITGA6 NSD1 FAM111B IL11RA COL17A1 POP1 KRT81 NTRK1 HOXC13 PHYH FLNA SOX18 KRT6B ARX DKC1 KRT6A DPM1 POC1A ECE1 HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS SPG11 PDYN WDR48 SPG7 ATL1 CACNA1G GCH1 CYP7B1 ALDH18A1 KIF5A CPT1C GBA2 PDK3 RTN2 SLC52A2 HSPD1 MT-ATP6 REEP2 HINT1 KLC2 POLR3A SLC33A1 VCP FLVCR1 KCND3 FLRT1 SAMD9L BSCL2 ABCD1 SCO2 B4GALNT1 KLHL9 TDP1 SPAST ERLIN2 DARS2 WASHC5 ARSI SACS HARS1 NIPA1 PRKCG VAMP1 PEX6 HP_NEUROLOGICAL_SPEECH_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROLOGICAL_SPEECH_IMPAIRMENT CLIP2 JAK2 NDUFA4 NODAL NFIX UNC80 VCP MCOLN1 SYNE1 GPR88 AP4M1 SLC9A6 PMS2 ATXN7 C12orf4 SPATA5 SASS6 GRIN1 PROKR2 CYFIP2 ATP13A2 MAPT KCNQ5 TOMM40 KANSL1 IL17RD BEAN1 TOP3A IQSEC1 RAC1 ARHGEF6 ATXN2 FMR1 SPG7 SLC12A2 GBA2 XRCC1 KCNA1 DYM HTRA1 GSN B4GALNT1 ADH1C NSUN2 ACTL6A WDR37 NDUFA12 VPS13A TANGO2 PIGP MYORG ABCB7 KCNH1 MLH3 BRF1 DEAF1 WASHC4 ADCY5 DNAJB2 SLC45A1 GFM2 GALC SOS1 GP1BB TBC1D24 TIMM50 MTO1 BRSK2 PSEN1 CPLX1 PMPCA PYCR2 CARS1 GOT2 POLG2 ERCC8 ASPA VAMP1 PTCH1 DLL1 COL6A3 NFASC CKAP2L NARS2 NOTCH3 GAMT PANK2 FGF12 ATAD3A TACO1 SPTBN2 ZC3H14 GFPT1 SMC3 MARS2 STXBP1 CHRNE PDYN CCDC88C KIF1C MLX PIEZO2 RRM2B KCNC3 CISD2 DIAPH1 TYROBP HSPG2 ADSL OPTN CACNA1A SEMA3A CHMP1A REEP1 KMT2E CFHR1 RLIM RHOBTB2 TSC2 FA2H RFC1 CLCN4 SLC30A10 MT-TF C9orf72 SOD1 C12orf65 GPT2 MED25 TECPR2 SERAC1 SYNGAP1 FLCN PEX10 TDGF1 NCAPD2 DLAT UBE3A MAN1B1 ABCD1 AP4S1 RPL10 EDC3 CNKSR2 ACBD5 ITPR1 L2HGDH PRNP AP4B1 TAT NONO TARDBP GTF2H5 KCNMA1 TICAM1 PGAP2 LRP12 KIRREL3 NF2 HACE1 IFT172 ST3GAL3 ATXN3 SLC19A3 EEF1A2 FRMPD4 GJA1 SCARB2 SCN3A ATP6V1B2 PSMD12 SET ARX GLI2 GEMIN4 ZEB2 NECTIN1 NPHP1 GLRX5 RIT1 COG4 FGFR1 IREB2 HNRNPK TBCK ZC4H2 HCCS MECP2 COG8 AMACR FTSJ1 HCFC1 WDFY3 NKX6-2 SELENOI RERE TMCO1 MRE11 NUTM2B-AS1 ALS2 KCNB1 RRAS2 PIGV FGF17 MKS1 CLIP1 UFD1 ATCAY CP POMK TRMT1 SLC25A12 MBD5 GLUD2 SMC1A FEZF1 FAN1 MED13 SDHAF2 GTF2IRD1 POGZ AP4E1 THG1L DARS2 HEPHL1 SNCA AFG3L2 TGFB1 MT-TS2 GRIN2B NALCN TWNK PRKCG EZH2 GPC3 HNRNPU DNM1 DYRK1A PPP3CA ADAR PNPLA6 FOXP2 DENND5A MYOT TK2 GRN FAM126A TCTN2 RFX5 ERLIN2 TAF2 DCX GRHL3 PLA2G6 LINGO1 CAMK2A SDHA TRIO PLPBP DHX30 EPB41L1 STIM1 SATB2 LIPT1 KCNK9 INPP5K JMJD1C GOSR2 CBL ATN1 TOR1A UQCC2 COASY ANO10 EIF2AK2 GMPPB SPART SLC25A1 RET FOXH1 CHKB KRAS SIX3 FAT2 EIF2B4 TBCD PRDM8 COLQ STUB1 NR2F1 SHH ACOX1 MMUT ATRX HPRT1 ACTG1 ACTL6B PLP1 PNPT1 NIPBL HERC1 CACNA1G PRICKLE1 DNAJC6 SLC17A5 SNRPN CDON XPR1 GJC2 SIK1 SRPX2 NEU1 RAI1 KCND3 COX15 PEX2 ALG13 MME AARS2 DMPK PCGF2 MYH3 TAF6 ATP2B3 COX7B MED13L STS MFSD2A RNASEH2A TBP RNF216 PTCHD1 PAX1 ODC1 FGF8 PSAP APTX LMNB1 HPCA ADA2 GUSB POLR3A APP FBXO7 CAPN1 HS6ST2 RARS1 KIF14 ALDH3A2 RMND1 TGIF1 ARSA RUBCN NPC1 NDUFS4 SLC18A2 MT-TE CSNK2A1 SAMD9L GATAD2B FARS2 KLHL15 LNPK SLC25A4 TBL1XR1 CWF19L1 SQSTM1 ERLIN1 ARL13B STRADA KIAA1109 PDGFRB SEPTIN9 TTPA NDUFS7 TRMT10A CPT1A HNRNPH2 NDUFA13 FUS MT-ND1 DMXL2 LARGE1 PRPS1 NTNG1 OCRL TAOK1 NEXMIF ALDH18A1 MPDU1 PTEN MYT1L UBQLN2 MT-CO1 SLC35A1 GNAQ ASH1L SLC6A17 SPR CRADD COQ2 SLC20A2 NKX2-1 AR NDUFS8 SPG11 TELO2 PDE10A CHD2 CHMP2B TFAP2A SNX14 MAG FTL TBK1 TRAPPC11 RAB3GAP2 DYNC1I2 EIF2B2 PPP1R15B EYA1 PIGW FRMD4A UFC1 CREBBP UPF3B GPAA1 HDAC8 PLD3 CASK TPP1 HERC2 SLC39A14 SIGMAR1 CCDC47 UBE2A TBCE AGRN RNASEH1 IQSEC2 KIF5C ARL6 RNASEH2C KIF1A DOCK8 SUFU CAMTA1 PDE8B NDUFV1 NACC1 SNAP25 IFIH1 RFXAP TRAF7 TBX1 POLR1C EIF2S3 FXN SLC2A3 CLTC MRPS2 COL13A1 AAAS GPC4 HIVEP2 UBA5 SLC39A8 PAX6 TRIM32 GNAL SLC1A4 MT-CO3 AGTR2 NOP56 HOXB1 TREM2 PGM3 TTR TRAF3 GNAO1 CHCHD10 ORAI1 SDHB REPS1 GBA HNRNPA1 LMAN2L NOTCH2NLC GNPTAB NSMF ST3GAL5 GRIN2A ATP6V1A DNAAF4 TMEM231 ZNF41 COL1A2 NDUFA6 KAT6A CLN5 CDC42 USP7 CCND2 GABBR2 MACF1 SLC9A7 DPM2 RALGAPA1 KCTD17 NDUFS2 POMGNT1 TBC1D23 TMEM106B GALT MTOR PIK3C2A NDUFAF2 PIGG NDUFAF5 SLC9A1 CTNNB1 TECR POMT1 NDNF ELOVL4 POLG ATP6V1E1 ATP7B MID2 UGP2 PIGC GJB1 B3GALNT2 PACS1 FKRP KMT2B UNC93B1 WFS1 WDPCP CTSF MFN2 RASA2 EXTL3 DAG1 THPO TUBB4A FLII STAC3 VPS33A CRYAB PNKD RPS6KA3 FLRT1 BBS10 PDGFB USP27X RREB1 GM2A TANC2 DISP1 CCDC22 MAGEL2 CACNG2 SPAST CYP27A1 PLEKHG4 PNPLA8 HIRA BAP1 ZNF148 BCL11B NTRK2 NRXN1 PPP2R1A RAF1 PRKRA ENTPD1 THAP1 NDUFAF6 FOXG1 GLE1 BRAT1 SLC5A7 CIITA ATXN1 C19orf12 BSCL2 BBS7 MGME1 NF1 GRID2 MT-TH NDUFS1 AIMP2 SCYL1 GRIA2 MSH2 CCDC141 GDF5 MAP2K2 KCTD7 RNU12 VLDLR TERT MANBA ERCC3 SIL1 GRM1 CYP7B1 TGFBR2 CHD7 GNAS HNMT SYP PIK3R1 BBS1 BRAF MDH2 ZFYVE26 TMEM127 PTPN11 NDUFS3 MFF MVK ZNF711 SCN1A MKKS EIF2B5 TNIK WAC VPS11 RAB39B EZR KMT2A BBS4 DEGS1 CLN3 ZIC2 MATR3 BBS12 SLC13A3 DNMT3A HUWE1 TSPAN7 PMS1 ATXN8OS WDR4 RANBP2 GRIN2D TTBK2 MTPAP BCORL1 WDR45 HNRNPA2B1 DUSP6 HMBS SPRY4 RPS20 SNORD118 HGSNAT PEX16 SYT1 LZTR1 CUX1 CAD RTTN CHAMP1 IL1RAPL1 WWOX CACNA2D2 CSTB PIK3CA MT-CO2 GAS1 SLC26A4 UBE3B APC2 DCPS ANOS1 PUF60 CXCR4 FDXR TMEM240 CHD3 AGA SETX DMD LYRM7 GDI1 MMACHC CACNB4 IFT27 EPM2A NEDD4L PAK1 NPC2 PMPCB CIC KIAA0586 MSH6 SYT2 EP300 HEPACAM RPIA SPEG CC2D1A PDHA1 EPCAM TBL2 CNNM2 MT-ND5 ALG9 ADPRS CFH HESX1 CSF1R KCNA4 TCF4 MT-ND6 TBXAS1 ABCA2 SLITRK1 KCNK4 TREX1 NUP62 PSEN2 FBXO31 LIMK1 SARS1 AKT1 MSL3 SLC25A11 MT-TL1 CHAT SMARCA2 DCAF17 LINS1 SLC44A1 DALRD3 SMS NDUFA9 YY1 SLC18A3 RAB11A MED12L KDM5B ABCA7 DCC MN1 NCAPG2 NR4A2 TTN PIGA FOXI1 ATP1A3 UFM1 COMT SLC2A1 ERCC2 AUH DAB1 FBXL3 SHROOM4 TRPM3 L1CAM HLA-DQB1 NTNG2 WIPI2 TUBA8 WDR11 BBS9 ACTB EXOSC3 MAP2K1 SLC16A2 SYNJ1 BIN1 RFXANK CHRNA1 DNM1L NDUFV2 KLC2 XK DCTN1 NDUFB11 ERCC5 CLIC2 SERPINI1 DNAJB6 HSD17B4 SDHC WDR81 RSRC1 RRAS DLST BMP4 FGF14 ELN GATA4 MT-TW MRPL12 PCNA ATP6V0A2 INTS8 TTC8 GNB5 BMPR1A MORC2 KISS1R KIF1B SEC31A ATP6AP2 RNF113A PODXL MBOAT7 GCDH EPAS1 MT-ATP6 NDST1 SRCAP CACNA1B MED23 ADK SLC33A1 SOX6 CRBN CSNK2B NAA10 TRRAP RFC2 WDR45B ZBTB18 PGAP1 ATP1A2 DDX6 LIPT2 PRPH WASHC5 SPG21 EXT2 USP9X NAGS VAPB GATA2 METTL23 POLR3B GDAP2 KCNJ10 HS6ST1 ZMIZ1 CFHR3 SMO SDHD INTS1 ERCC4 ZNF592 EARS2 DOCK7 ZNF81 HSD17B10 CUL4B STX16 MPL PIK3R5 OPA3 SARDH ATP10A CAMK2B SVBP EDA SLC6A1 TMTC3 NHLRC1 MTFMT CCDC28B ATP8A2 SLC13A5 PRRT2 MT-TQ PRDM16 GRIA4 PFN1 UROC1 MLH1 TARS1 PPP2R5D AIMP1 STAG2 NEK1 TRAPPC2L DRD3 ATXN10 ARVCF WDR73 CIZ1 SOX10 AP2M1 ATM TSC1 TRAPPC9 TOE1 CSPP1 PABPN1 BAZ1B MYO9A WARS2 SDCCAG8 TRIT1 PROK2 COA7 POLR1D JPH3 COL1A1 OCA2 SEMA4A NEFH TRAPPC4 ZBTB11 RNASEH2B GCLC HTT ABHD12 PPP2R2B FBLN1 MED12 SMARCE1 AP1S2 HAL SAMHD1 ATL1 HDC ZMYND11 DGUOK FBXW11 NUBPL SEC24C UPB1 ISCA2 PET100 SYT14 GTF2I IFRD1 TGM6 HBA2 FRRS1L TDP1 SLC25A13 NUS1 IL12B EEF2 GAN SACS SLC1A2 SMARCB1 SOS2 DOCK3 TRIM37 CTNNA2 GSS SETBP1 EGF TPK1 NGLY1 WDR26 HIKESHI EIF2B3 C8orf37 ADD3 CNTNAP2 GRIK2 MPLKIP IRF2BPL TCF20 CDH15 YME1L1 MRAS UBTF RAB11B ADAMTS2 POMT2 SURF1 FMN2 ELOVL5 PLEC GABRG2 NAXD PAK3 ECHS1 ASXL3 FOXRED1 CACNA1E MTRR VHL VWA3B EHMT1 JAM2 DYNC1H1 GABRB2 BBIP1 FKTN KCNAB2 HBA1 TLR3 PIGH COX20 AMER1 MAX PNKP MAN2B1 DDOST PPT1 OTUD6B ADGRG1 PUS3 TACR3 CXorf56 RNASET2 ZDHHC9 CDKL5 GABRD ADARB1 MT-ND4 PARS2 SNCAIP RAD21 NDUFA2 EIF2B1 CHSY1 LZTFL1 C2CD3 SLC6A3 ALG11 NRAS CARS2 CTC1 KIF15 NDUFA10 HEXB SOBP MRPS34 GTF2E2 FH ZSWIM6 CNOT1 VPS13B PURA KIF4A MICOS13 TRMT5 PRSS12 SLC30A9 DLG3 KCNA2 ASAH1 MTHFS SPTBN4 FIG4 PIGN A2ML1 DDHD2 PUM1 SETD5 SCN8A SKI CA8 ELP2 RYR1 OPHN1 ALDH7A1 UQCRQ SCO2 ACSL4 ARG1 TUBB3 BCOR SLC1A3 MECR CEP290 IARS1 TKT LAS1L TUSC3 COA8 BBS5 UBB TTC19 ELOVL1 CCDC88A AP3B2 VPS13D CLP1 GSX2 SLC35C1 GNS XRCC4 BPTF NSDHL RARS2 HMGCL SLC52A2 ADNP TCOF1 HLA-B FLRT3 PI4KA SORL1 MTTP EBF3 TIMM8A PEX6 BBS2 HP_SCANNING_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCANNING_SPEECH ITPR1 ATXN1 PNPLA6 PAX6 TPP1 ATXN10 CCDC88C DAB1 CP TMEM240 SACS COQ2 PLP1 HP_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONUS KDM1A SPG11 KIF1C MED17 ANO10 FKRP HTT ERLIN1 VPS37A SPART TIMM50 SLC25A15 ADGRG1 KIF5A PRPS1 SLC2A3 NDP POMGNT1 ATL1 SLC39A14 ABCD1 RTN2 PSAP ALS2 REEP1 SOD1 STUB1 SLC33A1 SELENOI GMPPB FUS CAPN1 ZFYVE26 OCRL GBA2 AMPD2 SLC52A3 SLC1A4 SAMD9L SLC6A9 PC CCT5 OSTM1 CYP7B1 BRAT1 ERLIN2 SPAST SLC16A2 PTS TANGO2 PIGP PRUNE1 ABCB7 KCNQ3 SEPSECS WASHC5 TRAK1 SETX UCHL1 KCNT1 GFM2 ZFYVE27 C12orf65 FA2H UFC1 POMK CAV1 CARS1 SYNE1 POU3F4 PET100 HIKESHI SLC25A21 SIGMAR1 TIMM8A KCNQ2 SLC44A1 KIF1A USP8 PIGT POMT2 POMT1 NIPA1 GALC TSEN2 ATP6AP2 PLPBP RAB18 HP_INTRACRANIAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_HEMORRHAGE ALPL ITGB3 SDHD TRAF7 F7 TERT ENG MAT2A CD46 SDHB TMEM127 ERCC6 FN1 CST3 TGFBR2 SMARCE1 KRIT1 JAK2 SMAD4 RASA1 PROS1 PRKG1 PMM2 RET WIPF1 F8 GCDH GNAQ COL4A1 WAS EPAS1 VHL APP LMNA MMACHC ACTA2 ABCC6 DOCK8 COL4A2 KANSL1 F13A1 PDCD10 CYP11B1 SAMD9 CFI ACVRL1 SDHAF2 CYP26C1 FGB FH SPARC CBS PTEN SMAD3 NDE1 SERPINF2 CYP11B2 FOXE3 USP18 ANGPTL6 SERPINE1 ELN MYH11 GDNF SUFU ZMPSTE24 TGFB3 F10 BAP1 TGFBR3 ITGA2B F5 GDF2 SMARCB1 F13B FBN1 MYLK COLGALT1 MMUT CFH CCM2 BRCC3 ADA2 MAX CD109 DNMT3A LMBRD1 MDH2 NF2 RNF168 GP1BA GP1BB ERCC8 PDGFB GBA SH2B3 F2 ATP7A CACNA1D KCNJ5 COL3A1 LMAN1 CPT2 PET100 SDHC THSD1 KIF1B DLST ACAD9 FGA MFAP5 TGFBR1 LOX SDHA AKT1 GATA2 SLC25A11 MCFD2 FGG NF1 NOTCH3 TGFB2 PCCA ITGA2 PIK3CA FCGR2C HELLPAR PCCB IVD STAT2 SMO HP_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOSIS HTT ETFA PSEN1 SQSTM1 SURF1 EIF2B1 LRRK2 TYROBP MOCS1 LONP1 NR4A2 NAXD GBA PIGA EIF2B4 VPS35 DNAJC13 TBCD FUS THOC2 MT-ATP6 MAPT VCP POLG ARX C9orf72 GLUD2 KDM3B NDUFAF3 TSEN54 ETFDH TLR3 GRN ATXN2 ATP6V1A ETFB VRK1 PDHA1 ATXN3 EIF2B5 SCO2 ADH1C MOCS2 SDHA BRAT1 UBQLN2 SNCA L2HGDH PRNP PMPCA PLP1 EHMT1 HSD17B4 TARDBP ADAR MAN2B1 KCNT1 AP4M1 TBP PLA2G6 ERCC6 TBK1 NGLY1 CHCHD10 CSF1R NDUFB8 ZNF335 EIF2B2 ATXN8OS FBXO7 SERPINI1 AVP KMT2C LMNB1 RANBP2 DYRK1A FARS2 NUP62 EIF2B3 TFG GIGYF2 EIF4G1 PAX2 GDAP2 NDUFS2 COX15 NARS2 SNCAIP LRPPRC YY1 PRKN HP_POSTURAL_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_INSTABILITY MAPT COL4A1 VPS13C ERCC4 CXCR4 LRRK2 UCHL1 DNAJC6 PODXL PDGFRB COQ2 ALDH18A1 NR4A2 CACNA1A GBA GARS1 DDHD1 VPS35 DNAJC13 CACNB4 KCNC3 ATP13A2 ERCC6 RFC1 SLC30A10 GLUD2 STUB1 SPG7 PINK1 KCND3 ATXN2 SCN1A HTRA2 PRKAR1B PDGFB ATXN3 ADH1C ABCC6 SNCA RNASEH1 SYNJ1 RUBCN SLC20A2 POU3F3 ADAT3 ATXN8OS PNKP TBP PLA2G6 CSF1R FBXO7 TAF1 KCNA1 ATP1A2 ERCC1 OPHN1 C19orf12 GIGYF2 TRPC3 EIF4G1 ENPP1 TIMM8A ERCC8 PRKN ATP1A3 PRRT2 SNCAIP PARK7 NF2 HP_HYPOGLYCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_SEIZURES HADH AKT2 MRAP TANGO2 INSR TXNRD2 TBX19 ABCC8 GLUD1 MC2R PROP1 POMC GCK PCSK1 POGZ STAR SLC16A1 NNT HP_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_TREMOR MYBPC1 MT-ND1 MT-ND5 TMEM240 NOTCH2NLC DRD3 MFN2 GCH1 PRKRA MT-CO3 MT-CYB MPZ NIPA1 BSCL2 ITPR1 CARS2 PARK7 TUBB4A TH MT-ND4L SCARB2 ALDH18A1 VAPB MT-ND2 REEP2 POLR3A PMP22 STUB1 OPA3 PIK3R5 FMR1 GALT ATXN1 FGF14 MT-ND4 MT-ATP6 TPP1 MT-CO1 COQ2 POLR3B COL6A3 NDUFS2 TENM4 CACNA1G ANO3 FUS PPP2R2B ATXN2 ATP13A2 MT-ND6 KCND3 SETX HP_SPINAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_COMPRESSION SLC26A2 GNAS APC B3GALT6 KIF1B COL2A1 IDUA NEPRO CREBBP EXTL3 HBB FOXE1 CCND1 DNA2 RMRP TRPV4 AKT1 MINPP1 EP300 IDS COMP FLNB PHEX DDR2 HABP2 HP_OPISTHOTONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPISTHOTONUS PHGDH CLPB TUFM KCNJ6 MCCC1 UGDH HPRT1 OPA1 SIGMAR1 CRLF1 MOCS1 ALG11 NDE1 CYB5R3 PANK2 TSEN54 MOCS2 EXTL3 GLYCTK ASPA GPHN GCDH VPS53 ACP2 CARS2 PTS PSAP ALS2 GBA SPG11 MCCC2 GALC TSEN2 PSAT1 POU3F3 PAFAH1B1 ADSL SETBP1 FUS HP_NEURODEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURODEGENERATION LYST HTT C19orf12 RNASEH2B ADAR IDUA AARS2 ATXN3 PCNA NBN VAPB MFSD8 UCHL1 UBTF PPARGC1A CHMP2B RNASEH2A FTL HSD17B10 NEK1 SLC2A3 NAXD OPTN PLA2G6 TXN2 UNC13A SAMHD1 SOD1 CHCHD10 UBQLN2 GM2A GLT8D1 PON3 GUSB ATXN2 CFAP410 PANK2 IDS TREM2 TARDBP ERBB4 FOLR1 DLAT PRPH FIG4 PDE8B PON1 EPHA4 NEFH TREX1 ABCD1 HNRNPA1 WDR45 FA2H TAF15 DAO CCNF NARS2 TTC19 C9orf72 TBK1 RNASEH2C DCTN1 GLE1 GALC VCP MATR3 ZBTB20 SQSTM1 FUS CSF1R TANGO2 PON2 PFN1 MAPT PRNP ANXA11 COQ2 ANG IFIH1 COASY HP_CEREBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_EDEMA ACAD9 UNC93B1 ASS1 NDUFS4 SLC25A13 TICAM1 OTC ASL DBT SCN1A ACADM LAMA2 CACNA1A KCNQ2 BCKDHB NAXD TRAF3 TBK1 RANBP2 BCKDHA PRRT2 SMS CPT2 TLR3 NAXE CPS1 ATP1A2 HP_PHONOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHONOPHOBIA BAZ1B CLIP2 LIMK1 TNF ELN RFC2 TBL2 ESR1 CREBBP GTF2IRD1 SLC1A3 MLXIPL GTF2I EDNRA EP300 HP_NEUROFIBRILLARY_TANGLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBRILLARY_TANGLES NPC2 ABCA7 PLAU GRN APP APOE NOS3 PLA2G6 MPO SORL1 A2M NPC1 PSEN1 ITM2B HFE MAPT TREM2 TOMM40 PRNP PSEN2 VPS13C HP_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APRAXIA KDM1A NODAL MAPT PIGW CACNA1G SMPD1 ATP6AP2 STAT4 SQSTM1 PGAP3 ARMC9 FOXG1 ARL13B CHD3 SLC25A15 KIAA1109 SETX STAT3 RPGRIP1L CSPP1 MKS1 DISP1 ABCD1 MYT1L FUS ABCC8 VCP B9D1 TRMT1 TGIF1 SIX3 INPP5E KANSL1 ACTL6B TOMM40 NTNG1 FBXW11 PDX1 DLAT ARL3 GRN MED13 GBA FOXP2 XRCC1 SPART KATNIP AFG3L2 ACTL6A KIAA0586 TANC2 IL2RB GRIN2A TMEM107 SLC30A9 SLC2A1 SPR CHD1 SMC1A CPLANE1 ANKRD55 PSEN2 SHH BCR DOCK3 GLI2 TMEM67 ATP1A2 DDX6 SNX14 PNKP SPG21 DNM1L TBK1 NGLY1 TRAPPC11 CHCHD10 MRE11 CSF1R TCTN2 TMEM216 ATP13A2 KDM6B FOXP1 STAG2 KCNJ11 PSEN1 ITPR1 UFC1 PMPCA LAMA1 PLA2G6 GPAA1 CDON TREX1 PIGV TUBB2B PTCH1 PTPN2 PIGL CEP41 DLL1 GCK GAS1 TCF20 BRAF GRID2 AHI1 MAST1 PURA VPS11 ATXN2 SUFU TMEM237 TUBB3 FGFR1 FOXH1 CEP104 ZMIZ1 ZIC2 HYLS1 TDGF1 ABCA7 PACS1 CC2D2A APOE NHLRC1 TYROBP SRPX2 NPHP1 PDE6D PGAP2 TREM2 MECP2 IFT172 KMT2E PIK3R5 C9orf72 PANK2 STUB1 TCTN1 CRKL SVBP ZC4H2 GALK1 EXOSC3 TMEM138 MAPK1 NKX2-1 TTC19 PIGY FGF8 MYO9A TPP1 SYNJ1 CD247 NONO PEX2 TARDBP FRRS1L AARS2 TMEM231 PTPN22 RLIM DDOST PLP1 XRCC4 BPTF CEP120 USP7 CHMP2B GABBR2 RAI1 TBP FA2H APTX ADGRG1 PSMD12 INS UBE3A TMEM106B TOE1 EPM2A PIBF1 APP GALT PIGO BCORL1 IL2RA CDKL5 TIMM8A PI4KA STXBP1 SORL1 SOX3 CEP290 WDFY3 EBF3 RORA TRAPPC4 PRNP RNF135 CWF19L1 HP_INTELLECTUAL_DISABILITY_PROFOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROFOUND TREX1 RNASEH2B PIGG KDM5B FKTN HSPD1 UNC80 PCDH12 DMXL2 ELOVL4 UBTF LONP1 SYNJ1 DMD ZNF81 PRPS1 MECP2 GDI1 CLTC PAK3 SAMHD1 CRPPA GRIN1 ASXL3 VPS53 SYP MBD5 FGFR3 ZNHIT3 PAFAH1B1 IDS HIVEP2 ZMYND11 OFD1 SLC39A8 EMC1 MID2 PPP3CA DYNC1H1 CNPY3 NDE1 BUB1B SETD1B TRPM3 ARHGEF6 TAOK1 OCLN RPS6KA3 AGTR2 ZNF711 ASXL1 ADAM22 MYT1L PDHA1 CSNK2B FKRP PIK3R2 POMT2 LARGE1 CNKSR2 GUF1 CACNG2 WDR45B PCDH19 ST3GAL3 CCDC88A ASH1L NACC1 PIGP SLC1A2 DLG3 CLCN4 SEPSECS AP1S2 CLIC2 ALG13 GRIN2B CAMK2B ADAR SPTAN1 KCNQ5 DEAF1 ATP6V1A KCNJ6 CAMK2A TBCD ZNF41 RNF13 FH KIRREL3 RNASEH2A CDKL5 SETBP1 PTCHD1 DPM3 ERCC6 UPF3B NGLY1 TSPAN7 IER3IP1 RAB39B SHROOM4 BRSK2 SLC9A6 SLC9A7 EEF1A2 USP9X ARV1 FRMPD4 IQSEC2 PUS3 USP27X ARX SET CXorf56 RNF113A GAD1 CIC WARS2 EPB41L1 STRA6 POMT1 MED12 TRAPPC4 CDH15 CUX1 ACSL4 AIMP2 CHAMP1 ATIC IL1RAPL1 ATP6V1E1 ATP6V0A2 SMS RNASEH2C VARS1 UGP2 KIF1A PIGU FTSJ1 TUBA8 DOCK8 HCFC1 SYNGAP1 TCF4 IFIH1 RAB11A MED12L RAB18 POMGNT1 STXBP1 HP_DELAYED_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CNS_MYELINATION EIF2AK2 ALG9 ALG14 KDM1A TIMM22 NRROS SHANK3 ZMIZ1 LMX1B MADD TXN2 MLYCD CNOT3 AP3D1 ALDH5A1 SETD1A CARS1 SMG9 TKFC TMEM63A EXOC8 ITPA BMP4 POLR2A DDX6 TBC1D24 UPB1 TRNT1 UGDH NUP188 PKDCC SLC12A5 CTNNB1 PEX7 CDK19 ACY1 ACTL6B POGZ TGFB1 ZC4H2 VPS11 ADARB1 FOXP1 DHX37 NARS1 SLC16A2 AIFM1 PIGU RERE CLTCL1 STXBP1 D2HGDH POU3F3 MMUT RBM8A HP_CHOROID_PLEXUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROID_PLEXUS_CYST ZSWIM6 SETBP1 PHGDH NPHP3 EXOC8 FH HP_PROGRESSIVE_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTICITY MECP2 HSPD1 GLRX5 RPS6KA3 TBCD ARSA PLP1 MSL3 PSAP ARG1 PLA2G6 GJC2 DARS2 GALC DEGS1 ACP5 FA2H GM2A ATP13A2 NKX6-2 OPA1 PLAA PAFAH1B1 NADK2 POLG SELENOI HP_DELAYED_GROSS_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT KDM1A LRP5 TET3 SMPD1 PAK3 FBLN1 FOXG1 ARL13B FDXR CHD3 SUCLA2 CHRND DHPS KIDINS220 HARS1 PIGC ALMS1 LARS1 EXTL3 MTMR14 DAG1 KMT2A KY MYT1L GRIN1 ACTN2 TNNT1 TRMT1 FBXO11 MAPK8IP3 CHRNB1 ACTL6B CREBBP TNPO3 PAFAH1B1 KAT8 RAI1 SELENOI NTNG1 POLR2A FUS PAK1 KDM3B NDUFA12 FBXW11 IQSEC1 PLP1 DLAT GALE FRMPD4 COL13A1 MED13 LAMA2 SLC12A2 SLC5A7 FLRT1 PTEN ZSWIM6 POMT2 COL1A2 DSE BMP1 SLC9A7 ACTL6A MYF6 TANC2 TRRAP MAGEL2 AGRN RYR1 TAF1 SETD5 DLK1 GARS1 MRPS25 AHDC1 ZNF148 VPS51 CHRNA1 PHKA2 RUBCN CDKL5 PCYT2 FIG4 PLEC OTUD6B KDM5B DOCK3 DDX6 SNX14 ADCY5 CHRNE NARS1 SELENON PPP2R1A SCN4A MEG3 SLC6A3 MBOAT7 TIMM50 NGLY1 PACS2 INPP5E APC2 DYNC1I2 TCF20 ATG5 CNOT3 CLP1 RUSC2 COL1A1 ITPR1 SCN2A DYNC1H1 CPLX1 PMPCA PHEX SYNE1 CARS1 CDH2 ABCA2 PNP PHKG2 WDR26 GAA TMEM63A FITM2 BRAT1 CAMK2A BCL11B SHMT2 SLC25A42 FTSJ1 FLVCR1 CDK13 HERC2 SET MSL3 DNM2 DHX30 SIGMAR1 UBE2A NFASC NDUFA1 GLS BIN1 HUWE1 ODC1 CFL2 MT-TE CHST14 STAG2 TUBB3 YY1 ZMIZ1 RAB11B RNU12 TTN DPM3 AK9 MUSK RTL1 PPP2CA PIEZO2 CSNK2B EP300 LSS NCAPG2 NPHP1 AMPD2 MRPS14 CHST3 TRIM2 KMT2E TMEM94 ASXL3 MECP2 SMC1A HNRNPK ALS2 VPS35L NEUROD2 PUS7 ATP10A P4HTM NAA10 FBXL3 SVBP UGDH MYH7 SLC25A1 BRPF1 TMTC3 HOXA1 ZEB2 HECW2 ZC4H2 SNRPN GJC2 GRIA4 MYO9A RAPSN FASTKD2 REPS1 EHMT1 ERLIN2 TBR1 MPZ AHI1 NONO WDR4 WASF1 YIF1B PPP2R5D LRP4 TRAPPC9 RLIM GALNT2 COL12A1 BPTF CYP3A4 PNPLA2 MESD GABBR2 CLCN7 KMT2C PSMD12 SYT1 SPG11 KLC2 DOK7 MTPAP BCORL1 CLPB PIGG TRNT1 DNAJC19 SPOP DPF2 ATP6V1A PRMT7 FGF3 COG1 HS6ST2 HK1 KIF14 TRIO ADARB1 FOXP1 STXBP1 LRRC32 TANGO2 TRMU CWC27 KPTN FKRP MFN2 SLC18A2 SEMA6B TK2 WDFY3 EBF3 SMARCD1 RORA TRAPPC4 UBE3A PLOD1 CNTNAP2 HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS INPP5E KIAA0586 TMEM216 ODC1 RAC1 CSPP1 HP_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPATHY GALNS EXT2 ABCD1 DKK1 BTD COL2A1 EXT1 NAXE GNPTAB NF2 GLB1 ARSB RASA1 HP_GENERALIZED_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_SEIZURE DCPS IQSEC1 JRK ATXN10 ALDH7A1 ELOVL4 NEXMIF SLC25A15 DMD KCNQ2 KCNMA1 SLC9A6 GDI1 STAT3 C12orf4 SPATA5 KCNA1 GRIN1 EPM2A TSEN15 MT-TF KANSL1 PIGQ ZMYND11 NTNG1 GABRG2 ARHGEF9 SIK1 PDX1 NUBPL ARHGEF6 SEPSECS TAOK1 GBA CACNB4 SLC35A3 MYT1L HYMAI GABRD MT-TQ AFG3L2 DHFR FRRS1L SLC25A22 BRAT1 NUS1 ASH1L PRRT2 MT-TV CRADD CEP85L CUX2 GABRA1 CLCN2 PCYT2 CHD2 DEAF1 WASHC4 PCDH19 MT-ND1 SLC2A1 SLC45A1 MBOAT7 UPF3B TBC1D24 NGLY1 BRSK2 ADGRV1 SDHAF1 MT-TS2 CPLX1 IQSEC2 SCN1A SDHA MT-ND5 FBXO31 GLB1 GABRB3 GRIK2 CILK1 SARS1 MT-TL1 MPLKIP GCK GRIN2A SCN1B SMARCA2 MT-TK CDH15 PURA ACSF3 NDUFA1 NARS1 GAMT SMS ASPA KIF1A DOCK8 GALC CDKL5 ZC3H14 RAB11A MED12L STXBP1 DPM3 NSUN2 PRDM8 KDM5B PCDH12 NHLRC1 ASAH1 KCNQ3 PIGA CLTC PAK3 MECP2 HCN1 GLUD1 PSAP EHMT1 HIVEP2 MED25 CAMK2A PPP3CA DYNC1H1 TRPM3 SYNGAP1 PGAP1 AGTR2 ZEB2 ALDH5A1 TREX1 MT-ND2 MAN1B1 SCN2A OSTM1 RPL10 GNAO1 EDC3 CNKSR2 SZT2 DMXL2 ERCC2 DCX LMAN2L RORB MT-RNR1 DNM1L GRIN2B GTF2H5 KCNQ5 MT-TP MT-TW XK MAPK10 ZNF41 KIRREL3 HACE1 CSTB ST3GAL3 GABBR2 NSD1 SLC9A7 GABRA5 EEF1A2 FRMPD4 SCARB2 WDR26 DPM2 SET RSRC1 CXorf56 MTOR CIC EFHC1 COQ5 TECR HNRNPK SDHB FTSJ1 KNSTRN HCFC1 UBE3A PIGC TRAPPC9 SEC31A SCN9A MT-ND4 SMPD1 MFSD8 RNF113A ALMS1 EXTL3 STX1B AP2M1 CARS2 BTD CLIP1 VPS53 MAPK1 ABCC8 MBD5 PAFAH1B1 NDST1 PLAGL1 SAMD12 MED23 SETD1B GTF2E2 RPS6KA3 CRBN CSNK2B CACNG2 MTHFR PRSS12 DLG3 PNKP MED13 CAMK2B FMN2 PIK3CD ADGRG1 SRPX2 NEU1 TK2 KCNJ10 TSEN2 APC2 SON KCNJ11 USP9X PTRH2 SCN8A TSEN54 RELN MT-ND6 RNU4ATAC GAD1 OPHN1 SETD2 METTL23 MT-ATP6 EPB41L1 MED12 NEUROD2 KCNT2 KCTD7 ACSL4 SATB2 GOSR2 ATP1A1 ANO10 ERCC3 PIGT DOCK7 ZNF81 SDHD CC2D1A FGFR3 GPHN PIGP HNMT SLC12A5 SYP TRIM8 EXOC8 CNTN2 MID2 CACNA1H PLAA NDE1 B3GALNT2 BUB1B SLC6A1 MT-TI TUSC3 ZNF711 PRICKLE1 TNIK WAC EZR CLCN4 LINS1 MT-TH TARS1 PIGM ALG13 AIMP1 TBCD PHGDH PLP1 ADRA2B CTNND2 PTCHD1 TSPAN7 IER3IP1 RAB39B YEATS2 ARX FTL COX8A MARCHF6 CASK DYRK1A USP27X TSEN34 INS TMX2 PLCB1 TRIT1 DNM1 LAMA2 GRN CUX1 CHAMP1 TANGO2 IL1RAPL1 COG2 MT-ND3 NFKB2 TCF4 GATAD2B CNTNAP2 LNPK DHDDS ATAD3A HP_DILATED_FOURTH_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_FOURTH_VENTRICLE SMARCA4 WDR35 FKTN LAMA1 FKRP SOX4 BUB1B DOK7 NID1 EVC POMK C2CD3 TMEM216 TMEM67 DPF2 MKS1 AP1S2 ARID2 CEP120 PMM2 FGFR1 POMGNT1 ZIC1 BCOR TMEM231 NPHP3 USP9X CRPPA PIGN RPGRIP1 CCDC22 ARID1B POLR3A TUBB ASXL1 LARGE1 SMG9 WDR73 COL4A1 RXYLT1 OFD1 GPC4 CEP55 BUB1 NRAS GMPPB PIEZO2 CC2D2A SOX11 TBC1D24 BUB3 TCTN2 IGF2 RAC1 EBP SUFU WDR81 HYLS1 DHCR7 ARMC9 ATXN3 SMARCD1 POMT2 B4GAT1 KIAA0586 TMEM138 B9D2 GLI3 KIF7 CEP57 SEMA3E POMT1 VPS51 B3GALNT2 PPP1CB B4GALT1 DYNC2I1 GPC3 B9D1 EVC2 COX20 PHGDH TMEM107 FAR1 RAPSN ATP6V1A DPH1 DENND5A TMEM237 WASHC5 CDC42 CHD7 SMARCE1 SLC35A2 WDPCP ATXN1 DYNC2H1 ATP6V0A2 CEP290 CPT2 PLG PMPCA DYNC2I2 RPGRIP1L CSPP1 HRAS ARID1A MUSK CASK RNF113A SLC18A3 FLVCR2 NUP88 MYOD1 IFT80 WARS2 TRIP13 DAG1 KCNQ1 KCNQ1OT1 KRAS FTO SMARCC2 CDKN1C ATP6V1E1 POMGNT2 ATXN2 KLHL7 SMARCB1 PSAT1 MAB21L1 MRE11 HP_HYPOCALCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIC_SEIZURES TBCE VDR STX16 GNAS FAM111A CYP27B1 CYP2R1 GCM2 GATA3 TNFRSF11A HP_PSEUDOBULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_SIGNS ASPA FIG4 ALS2 HMBS ERLIN2 FBLN1 SPG7 SRPX2 AP4M1 PRPH HTRA1 TGM6 PI4KA B4GALNT1 NOTCH3 ALDH18A1 CYP27A1 GM2A DCTN1 NEFH LMNB1 ADGRG1 PUS3 ZFYVE26 RARS1 NONO DNMT1 SOD1 ADSS1 SEC31A HP_PLEURAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURAL_EFFUSION CFH MST1 IL6 LYST TAPT1 ERAP1 TLR4 ADAMTS3 ALG14 CD46 SPP1 MEFV HLA-DRB1 CFTR MIF BCL6 FAT4 BTNL2 CCND1 UBAC2 BCL2 CCR1 CALCRL HFE STAT4 LACC1 MYD88 HLA-B CFI CCBE1 SPINK1 KLRC4 IL23R DNASE1L3 CTRC PRSS2 IL10 FAS IL12A PRSS1 CYBC1 TSC1 TSC2 PIEZO1 CBL RIT1 LBR PLVAP IL12A-AS1 BMP2 IRAK1 SOX18 C4A HELLPAR VPS51 KIF11 FSHR TCF4 GPR35 ITK HP_RESPIRATORY_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_PARALYSIS SCN4A CACNA1S ALAD GABRA3 KCNJ18 HMBS CPOX KCNE3 PPOX HP_PULMONARY_EMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EMBOLISM MEFV PROC HLA-B MPL ERAP1 TLR4 KLRC4 JAK2 IL23R TET2 PIGA IL10 FAS MTHFR CD55 IL12A PLP1 CBS SMAD4 PROS1 ENG F2 PTEN ACVRL1 KCNJ5 GNAQ HABP2 IL12A-AS1 MMACHC UBAC2 C4A CCR1 SERPINC1 F13A1 GDF2 AGGF1 AKT1 STAT4 HP_RECURRENT_RESPIRATORY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_RESPIRATORY_INFECTIONS ZAP70 STAT1 CLIP2 CR2 SOX4 GFI1 COL5A2 CXCR4 DSG1 IL6R RSPH4A IL2RG AGA COL6A1 ARID2 RELB MS4A1 CTLA4 MGP RAG2 SCN9A CFI TCF3 ACTA1 RTEL1 CCDC22 ACP5 ZNHIT3 SLC35C1 BCL10 ICOS CCDC114 KANSL1 CREBBP MAP3K20 ZBTB24 PRPS1 CFAP298 MAGEL2 PIK3CD SCNN1A RIPK1 OCRL SCNN1G ALOX12B TFRC SNRPN SLC29A3 PSMB8 SP110 PTPN22 CCDC103 CD3D CD81 SMPD1 GTF2I TSC2 SETBP1 TGFB1 CCNO RSPH9 JAGN1 FBLN5 KIAA0586 SLC25A22 NDN LYST LRRC6 GAS2L2 XIAP SMARCD2 FUCA1 SYT2 EP300 STAT3 ZMYND10 NEK10 CCDC65 CYP4F22 RYR1 JAK3 IL7R EPG5 TBL2 RSPH1 DCLRE1C GAS8 NCF2 NFKB2 CHAMP1 STXBP2 ITGA7 EGFR IGHM PET117 PRKCD LCK GLB1 DNAAF6 NGLY1 PSAP NELFA DNAL1 SNAP25 POLE IL17RA FOXN1 COL6A3 DNAH9 MASP2 NKX2-1 HERC2 MANBA TNFSF12 MYO5A CFTR PWAR1 DNAI2 SGSH GUSB LRRC8A NBN LIMK1 MPLKIP KRAS GATA4 DNAAF1 SIK1 KIF20A IGLL1 DNAH1 CHAT UBE2A PURA AGRN NR2F2 GAA ALB CTC1 NFKB1 GMNN FMO3 MALT1 ALMS1 NPAP1 RAC2 SNX10 OFD1 TRAF3IP2 EFEMP2 DKC1 SNORD116-1 SLC18A3 DNAAF3 CIITA ALOXE3 VAMP1 MTHFD1 RFXAP TNFRSF13C MAGT1 TNNT2 TTC12 DNAAF5 GNPTAB DPF2 TERC SMN1 WIPF1 GLUL RFXANK LETM1 CARMIL2 COL13A1 MYPN IFIH1 POLR3A MKRN3 SNORD115-1 USB1 DOCK8 TAPBP MED25 BLNK IL6ST CRKL SHROOM4 MESP2 CTSC PEPD SLC46A1 SPAG1 NFKBIA RSPH3 SMARCD1 PGM3 CTCF TNFRSF11A SPEF2 MAPK1 PRTN3 RAG1 ERF CRELD1 KATNIP TRAIP ERCC2 LEP SCNN1B DLL3 DNAAF2 IDUA GTF2H5 RUNX2 NPM1 NCF1 IRF8 MYL2 BTK TTC25 FLNC TNNI3 TRIP11 OCA2 ASAH1 ALG12 HLA-DPA1 ARMC4 CYBB CD27 LEPR IL17F LAMB2 TNFRSF1A AICDA DPM2 CD40LG TBC1D23 ARID1A NOTCH2 HLA-B TYK2 TLL1 NECTIN1 CARD11 KAT6B ELN FLNA WAS CD247 TNFRSF13B EDARADD FCN3 COG4 NOP10 LRRC56 NME8 SMARCC2 SH3KBP1 GATA6 ELANE KPTN UGP2 CCDC39 CD79A DNAI1 INPPL1 SMARCB1 NCF4 EXOSC9 NFE2L2 SDR9C7 POLA1 CLCA4 FOXP1 SRP54 CD3E RPGR GLI3 DNAAF4 CASP8 RNF113A SULT2B1 LAMTOR2 CD19 DCTN4 CCDC151 FCGR2A GBA EXTL3 SPINK5 ZNF341 USP9X PIK3R1 RASGRP1 ARID1B TCIRG1 AP3D1 TGM1 ELP1 VPS33A IL21 CACNA1B POLR2A TNFSF11 TERT MECP2 DNAH5 GTF2E2 GTF2IRD1 CFAP410 SCN10A SLC52A3 TBX6 TSC1 NSD2 PKHD1 DNMT3B TBCE CD79B RFC2 BACH2 ITGA3 HYDIN VPS51 DNAH11 STK36 HPS6 TAP2 DDR2 BCR KIF1A CYBC1 ORC6 PLEC KCNJ6 ECM1 RAB3GAP2 IVNS1ABP TRIP4 COL6A2 WASHC5 TK2 MYH3 PRKDC SMARCE1 RFX5 CORO1A NIPAL4 ATP6V0A2 SIM1 SMARCA4 CYBA PNP RNU4ATAC SLC5A7 SCN11A EHMT1 CCBE1 GATA2 MBTPS2 NEPRO SELENON DYNC2I2 CLEC7A WRAP53 NAGLU COL5A1 TPM2 FOXJ1 NHP2 COG6 IKZF1 ALPL CHRM3 ITCH RAC1 CFAP300 ADAMTS3 ATM ERCC3 SLC25A1 TRPS1 ABCA12 IL2RB NXN CCDC40 MYSM1 COL11A2 STX1A IDS PCNT DZIP1L ADA GALNS NRAS P4HTM SOX11 TBC1D24 IRAK4 TECPR2 B2M LIPN MCIDAS IL17RC SLC1A4 PLP1 CFAP221 AP3B1 CD8A WAC SDCCAG8 SLC26A2 WDR1 CD3G HACD1 LRBA DRC1 PARN SH2D1A IL2RA COLQ TARS1 MDM4 UNG COL4A6 TCTN3 CDCA7 TINF2 CLCN7 GNS PCGF2 TBCD TPM3 PLCG2 FCGR3A FOXP3 RNF168 IER3IP1 PWRN1 ROR2 MIR140 SREBF1 FAT4 G6PC3 FLI1 PLG AK2 IL21R ADA2 ADNP COL4A5 DNAJB13 PLOD1 CSPP1 BAZ1B MYO9A TASP1 MSN HGSNAT HLA-DPB1 LAMA2 MCM4 WDR19 TAP1 STING1 TET2 BIRC3 SAMD9L UMPS ARSB HELLS UNC119 HP_PULMONARY_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_FIBROSIS CLCA4 BNC1 SFTPA1 PLEC NOP10 NUP107 FSHR PSMC3IP TERC PARN IL1RN GATM CAV1 DCTN4 CCR6 RNF168 CASP10 KIAA0319L RCBTB1 HLA-DRB1 SFTPA2 STN1 HLA-DPA1 BMP15 IRF5 FAS MUC5B SLC34A1 BTNL2 RAC2 NDUFAF6 STX1A NHP2 THOC2 CCN2 HPS4 TERT CFTR DSP NR5A1 CTLA4 SP110 ATP11A RASGRP1 TINF2 GBA FAM111B RTEL1 TGFB1 CYBC1 AP3B1 ABCA3 HLA-DPB1 MRPS22 PTPN22 FAM13A STING1 PRTN3 NKX2-1 PRKCD DPP9 BACH2 SFTPC POLR3H DKC1 EHHADH SPIDR ZCCHC8 FASLG HPS1 HP_COARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_HAIR SLC25A24 FLNA ATP6V1A GNS A2ML1 ATP7A TP63 PADI3 SOS1 RAF1 SUMF1 RRAS2 NRAS RASA2 VPS33A BCS1L SREBF1 NECTIN4 NOTCH3 ERCC3 EPS8L3 LPAR6 OFD1 RRAS NOTCH2 SGSH IKBKG PTPN11 RIT1 TMCO1 HGSNAT CCDC47 TGM3 LZTR1 KRT74 SEC23A SMARCAL1 PLOD3 ATP6V1E1 ATP6V0A2 NAGLU MRAS KRAS CERT1 CBL RPS6KA3 HR SOS2 HP_SPARSE_SCALP_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_SCALP_HAIR SMARCA4 SNRPE KDM1A NOP10 UBR1 IGF1R CDH3 ERCC3 RNF113A PCNT TP63 MAF SPINK5 PTPN22 TINF2 NECTIN4 ATRIP CEP152 ARID1B POLR3A WNT10A RPL21 PARN ATR KRT74 MED25 SMARCA2 LIG4 RBBP8 OCRL LSS B4GALT7 GTF2E2 FIG4 TERT APC2 ARID1A CENPJ KIFBP DSG4 KANK2 CBS AXIN2 RTEL1 RNU4ATAC APCDD1 LIPH LMNA CLDN1 ITGA3 ZBTB20 PPP1CB ERCC2 ACD AHSG TARS1 GTF2H5 EXT1 NSUN2 PCGF2 ODC1 SLC25A24 LPAR6 KAT6B FAS NSD1 SMARCC2 NHP2 EPS8L3 HDAC4 ADNP SMARCE1 JUP SHOC2 SMARCB1 VAC14 B3GALT6 MPLKIP DSC3 SETD2 EDARADD DPF2 NEPRO PRKD1 ITGB6 GJB6 TRPS1 NTRK1 PLK4 RIN2 KRT25 CDSN KRT17 SOX18 CENPE TRAIP HLA-DRA HR DPH1 DKC1 WRN HP_WHITE_FORELOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_FORELOCK KIT EDN3 EDNRB SNAI2 LMNA SOX10 PAX3 PEPD MITF KITLG TFAP2A WRN HP_CURLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_HAIR MTOR BRAF CDK13 SOS2 KRAS ST14 CCDC47 NRAS SOS1 TTC37 LZTR1 RIT1 KRT25 RIPK4 JUP SON USP9X GJA1 RAF1 CERT1 GAN AFF4 MAP2K1 TCHH HRAS HP_FINE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINE_HAIR SLC7A7 KRT81 IFT43 SATB2 BRF1 KRT86 DSG4 NSUN2 TP63 TRPS1 IFT122 PPP1R15B EDAR SMAD4 EDARADD NBAS ALMS1 MED12 SIN3A TTC37 KRAS KRT25 SPINK5 NAA10 TRMT10A HPD TINF2 RLIM COL3A1 RMRP PIGL GJA1 WNT10A EED KRT74 SUZ12 CARS1 PCNT MSX1 ERCC2 BRAF EZH2 GJB6 LIG4 IKBKG OCRL NSD1 KCTD1 KRT71 ALX4 DCAF17 CBL TWIST2 KRT83 SMARCAL1 LIPH LPAR6 MAP2K1 GJB2 WDR35 ITGA3 CSTB KAT6B CDH3 SUOX GATAD2B MAP2K2 GNPTAB PYCR1 HP_PREMATURE_GRAYING_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_GRAYING_OF_HAIR TINF2 EDN3 BRCC3 TFAP2A NPM1 SOX10 ERCC6 PAX3 MDM2 PARN TERC KITLG PTPN22 ERCC8 EDNRB FAS ATM RTEL1 LMNA INSR DSTYK MYO5A ELN MLXIPL TERT RAB27A MITF USB1 PSMB8 NOP10 MTAP CTC1 WRAP53 NHP2 SNAI2 ACD DKC1 STN1 RECQL4 WRN HP_SILVER_GRAY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SILVER_GRAY_HAIR LYST RAB27A MLPH MYO5A DSTYK HP_FACIAL_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPERTRICHOSIS ZIC2 UROD FGFR1 KCNMA1 KDM1A PHIP HSPA9 KIFBP KIT CDH11 PACS1 IGF1R NIPBL AIP XYLT1 PAX3 KCNH1 DOCK7 ABCC9 CUL4B EDNRB TRMT10A KMT2A TMEM94 PHF8 SMC3 ASXL3 SMC1A FLII HMGA2 ARID1B ASXL1 UBE2A NANS EHMT1 KLF13 SNAI2 RAI1 LEMD3 ZNF711 HDAC8 UGDH CHRNA7 PSMD12 SLC1A4 CDK10 WAC KCNN3 CTCF NSUN2 SMCHD1 ERLIN2 MITF RAD21 TBCK TAF1 POLR3A SETBP1 TRMT1 ATP6V1B2 ZBTB20 ABCA5 BPTF ADAT3 MED13 IL1RAPL1 B3GLCT CDKL5 EDN3 AMMECR1 GNS TAF6 CDON TRAPPC9 RAB3GAP1 HFE DEAF1 SNX14 SOX10 COX5A CDC42 GPR101 ALG9 SLC25A24 KNL1 PIGN SETD5 VPS33A PACS2 RUSC2 PPP1R15B FHL1 CDH2 AFF4 KCNK4 TUBGCP2 TALDO1 NOTCH2 BMP2 TTI2 TRIO SGSH NECTIN1 STAG1 TASP1 CHSY1 DHX30 TMCO1 HGSNAT FGF3 CCDC47 IQSEC2 FREM1 HNRNPU NFIX SMS GNE NAGLU ANKRD11 UGP2 CERT1 KLHL7 ARX CSNK2A1 EBF3 INSR MAP1B MBD5 MAB21L1 UQCC2 SPOP WNT4 CWF19L1 HP_ABSENT_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_AXILLARY_HAIR AR EPS8L3 GJB6 TBX3 ZBTB20 PPP2R3C APOE SNRPE HP_ABSENT_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EYEBROW UBE3B SOX18 UROS EDA KRT85 MBTPS2 CDH3 KRAS BRAF TWIST2 MAP2K2 ODC1 ALX1 LMNA ZMPSTE24 ANAPC1 TTC7A HR RIPK4 FRAS1 SMARCA2 HP_WOOLLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WOOLLY_HAIR EFNB1 MPLKIP KRT71 CCDC47 GAN PADI3 DSP KANK2 TGM3 LIPH KRT74 TTC37 ATP7A KRT25 JUP LPAR6 HRAS DSC2 SKIV2L PKP1 HP_WHITE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_EYEBROW EDNRB KIT SOX10 PAX3 MITF EDN3 TYRP1 SNAI2 MC1R OCA2 HP_GENERALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HIRSUTISM TBC1D20 SOX4 ARL6 WDPCP CYP19A1 AIP LZTFL1 SUCLA2 SMO HSPG2 DPF2 ABCC9 ARID2 ELMO2 KMT2A GNAS NFIX IFT27 MAPK1 SRCAP CEP290 BBS1 SOX11 HDAC8 USP8 TRIM32 BBIP1 BSCL2 CTSC PEPD BBS10 MKKS SMARCD1 BBS5 NIPBL PTEN KCNJ8 BBS9 KCNAB2 PRDM16 IRF6 BBS4 SLC25A24 ABCA5 TUBB AKT1 IDUA GJB3 TWIST1 BBS12 MC1R RAB3GAP1 GJA1 ARMC5 ARX LMNA GPR101 IFT172 SMARCE1 SMC1A PPARG SETD5 CDH23 LMNB2 MKS1 ARID1B SMARCA4 SKI ARID1A NOTCH2 GJB4 C8orf37 RAB18 RAB3GAP2 NPHP1 GABRD BBS7 SDCCAG8 NRAS UBE2A SMARCC2 TWIST2 KDSR INSR GNE TTC8 MAPRE2 RAD21 SMARCB1 MBD5 SMC3 RERE BBS2 HP_SPARSE_BODY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BODY_HAIR SNRPE LAMB3 FMR1 ITGB4 SPRY4 KRT85 CST6 HS6ST1 CDH3 EDARADD KLHL24 EDAR TRAF6 LPAR6 WDR11 DUSP6 KRT25 CYP17A1 FGF8 HR WNT10A RPL21 KRT74 CYB5A KDF1 APCDD1 FGFR1 LSS TP63 EDA2R NSMF DSC3 KISS1R LMNA CTSC CHD7 KRT71 ITGB6 DSG4 KANK2 ANOS1 PROKR2 LAMC2 LIPH JUP GNRH1 COL17A1 TAC3 CLDN1 SOX18 LAMA3 FGF17 EDA AHSG PROK2 TACR3 KISS1 GNRHR HP_PATCHY_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_ALOPECIA KDM5C KRT81 IKBKG KRT86 DSG4 TP63 NECTIN4 COL17A1 IL2RA ZMPSTE24 ECM1 BLM ITGB4 PADI3 HR TGM3 PORCN KRT83 LMNA HP_PILI_CANALICULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_CANALICULI GAN PADI3 TP63 TGM3 SKIV2L TCHH HP_GASTROINTESTINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_HEMORRHAGE ITGB3 BMPR1A STK11 KIF23 DLL4 F7 PUF60 APC HPGD CDKN1A ENG TBX1 CISD2 JAK2 SMAD4 FGB TGFBR2 PMS2 WIPF1 F8 F5 KRAS CDKN2C COMT WAS CTC1 UFD1 EOGT RHBDF2 ABCC6 CCR1 SDHB DZIP1L NOTCH1 AGGF1 STAT4 B2M GREM1 SEC24C ACVRL1 FAN1 RBPJ IL23R CDKN2B MYC GP1BA IL10 FAS GP9 TSC1 TSC2 CBS FGG TREX1 SLC25A13 RREB1 PKHD1 MEN1 PRTN3 MSH6 SERPINE1 KIT ITGA2B HIRA TNFRSF1A MLH1 GFI1B FGA PRKCSH GDF2 EPCAM GP1BB HPS1 F2 MLH3 CDKN1B PIK3CA ERAP1 TLR4 SLCO2A1 CD109 VWF XYLT1 F9 SDHD ARVCF PMS1 HLA-DPA1 ATP7A ARHGAP31 F10 DOCK6 SREBF1 DAXX TTC7A UBAC2 LMAN1 IL10RA XYLT2 PLOD1 CTLA4 HLA-B SDHC LBR CASP10 MYD88 TNXB SEC63 MEFV FAH MPL KLRC4 TET2 TEK RPS20 IL12A MCFD2 WFS1 ENPP1 HLA-DPB1 PTPN22 ATRX SDHA ALDOB PLVAP LRP5 IL12A-AS1 CTNNB1 ITGA2 C4A PTEN SEMA4A MVK JMJD1C FCGR2C F11 MSH2 STN1 HSD3B7 PDGFRA CYP7B1 IKZF1 HP_HEPATOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOMEGALY LYST NDUFS4 CD28 TUFM IFIH1 PPARG PCK1 ARL13B GUCY2D PEX5 DDRGK1 IL2RG AGA ACADM SLC25A15 HBA1 IFT122 PEX19 RMRP KCNH1 HLA-DRB1 CCDC115 LARS1 PEX12 CTLA4 ACOX1 TTC37 NDUFS7 EPB42 NDUFV1 ATP7B RAG2 BTNL2 CPT1A RTEL1 HNF1A PCCA SLC35C1 HNF4A ICOS PEX6 CTNS HFE IDS RAB27A HBA2 AGGF1 B2M SUMF1 HMGCS2 NPC2 PRF1 NPHP3 PEX2 GALE PTPRC PSMB8 SP110 PEX1 SMPD1 ABCC8 NEU1 CBS HYMAI SLC25A13 PEX10 NDUFB10 DHFR IL18BP COX4I2 PIEZO1 PRKCD MT-ND2 BSCL2 XIAP CLDN1 VPS13A FUCA1 ALG2 SLC17A5 MRPS7 MT-TV JAK2 PDGFB PHKA2 DCDC2 FDX2 IL7R SOS2 CR2 CHD7 SLC7A7 ASS1 FBP1 ALG9 TMEM67 NCF2 GPC3 TRIM37 G6PC PEX26 ATP8B1 MT-ND1 INPP5E GLB1 GFM1 PEX16 SOS1 NGLY1 PEX13 TRAPPC11 PSAP NDUFAF2 DAXX CPT2 KLF1 ATP6V1B2 CTSK PHKG2 DYNC2LI1 CFTR GAA HBG2 GLRX5 SKIV2L ADA NDUFA1 ERCC1 LACC1 NEK8 SGSH ERCC8 MT-ND3 FASLG SLC22A5 XRCC4 FAH MET SLC20A2 NLRP1 ASL DNASE1L3 KRAS RASGRP1 NDUFAF3 NHLRC2 KIF20A CCDC47 COG7 ADAMTSL2 CDKN1C PCCB CTC1 SCO1 LBR EWSR1 PEX3 DCLRE1C ALMS1 TMEM70 MRAS NDUFA6 SNX10 AMACR XPR1 MT-TK TET2 TNFRSF1B APOC2 GBA DKC1 PEX14 PEX11B CYP7B1 TREX1 RPGRIP1L HMGCL TNNT2 VPS45 NDUFAF1 CIDEC RFT1 GNPTAB ABCB11 SPTB TERC MIF F5 IFT172 PIGA EIF2AK3 FOXRED1 TNFRSF13C COG5 MYPN MYBPC3 RAG1 ALG8 MADD POLG SLC30A10 C1QBP GPC4 TMEM126B POLD1 ETFDH GLIS3 AKR1D1 NLRP3 PIGS PEPD POLG2 SRP54 SC5D OSTM1 ATP6AP2 KCNN3 FERMT3 TNFRSF11A LIPA MPC1 YARS2 AUH ANTXR1 NUBPL CA2 APOE BTD PRKCSH MPV17 HBB ABCA1 HSD17B4 CDIN1 IDUA SLC25A20 NPM1 MT-TW MMAA NCF1 MAN2B1 FAS SERPINA1 LMNA IL1RN FLNC TNNI3 SLC25A1 TCIRG1 GPD1 PNPLA2 PDGFRB NAGA CYBB CD27 ANK1 KCNJ11 RNASEH2A CLCN7 PKHD1 DPM2 CD40LG KCNN4 RRAS NOTCH2 MT-ND5 DLD RUNX1 GALT FOS RIT1 COG4 FAM111B SLC25A19 NOP10 MAGT1 SCARB2 SLC4A1 ERCC6 TRMU WDR35 LTBP3 STEAP3 CASR TSFM NCF4 COA8 WT1 TCF4 INPPL1 GNE PIK3C2A MFN2 NDUFS2 APOA1 CLCA4 NDUFA11 SCYL1 TMEM165 MT-ND4 SLC37A4 IL6 SBDS SEC63 HPGD CPOX LYZ ERCC4 CD19 DCTN4 COX14 HBG1 RRAS2 CAVIN1 NRAS RASA2 TIMMDC1 CD96 EXTL3 SPTA1 COG6 NDUFS6 AP3D1 PYGL PDGFRA TKFC DIS3L2 TNFSF11 PLAGL1 TERT ACADVL HADHA OCLN CD55 ETFB MARS1 PC MYORG RHAG ABCC2 GPIHBP1 DHDDS DNAJC21 CAV1 USP18 ABCB4 ABCD3 SRSF2 CALR ERBB3 TGFB1 TNFRSF1A LIG4 IFT140 RBCK1 XYLT1 LIPE LPIN2 PMM2 CYBC1 FBN1 JAM3 ATP6AP1 ASXL1 SLCO2A1 A2ML1 COX5A ARG1 CASP10 RAF1 HMOX1 CYBA SOX10 NAGS MT-TN PTRH2 RNU4ATAC PHKB ABHD5 MT-ND6 CTNNB1 NDUFAF5 ASAH1 BOLA3 MT-TL1 ZAP70 GATA2 EFL1 MT-ATP6 ALDH7A1 PSMB9 PLPBP SF3B1 NDUFS3 ATRX NDUFB11 NDUFB3 HAMP STX11 RIPK1 ALDOB LCAT ALG1 WRAP53 NAGLU AGL MT-TE MRPS28 NHP2 PLEKHM1 CBL MVK MT-CYB HSD3B7 INSR NDUFV2 DLK1 SAA1 ACAT1 ETFA MST1 ITCH MMUT CC2D2A SURF1 EARS2 MEFV IL2RB ATPAF2 DGUOK GPC1 STX1A RHBDF2 USB1 GALNS SLC29A3 ALG13 TKT MMAB FGA NDUFS1 PTPN11 IGF2 AKT2 NDUFS8 PSMB4 SLC39A4 MOGS SLC13A5 HYOU1 AP3B1 GALK1 MPI JAM2 MEG3 MRPL3 PARN BMP2 RTL1 SH2D1A MTX2 AGPAT2 GPR35 PIGM TINF2 NDUFB9 GNS ATAD3A NDUFAF4 UCP2 VPS33A DOLK TNFRSF13B RINT1 G6PC3 SLC2A2 HJV ADA2 GUSB GNMT SLC2A1 TALDO1 MYD88 MPL HGSNAT KCNQ1 KCNQ1OT1 LZTR1 NDUFAF8 MCM4 RMND1 LRP5 NPC1 GCDH MTTP PTEN UQCRB ARSB DPM1 ITK HP_ABNORMAL_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTESTINE_MORPHOLOGY AP1B1 KDM6A CLIP2 UBR1 CDKN1A IL10RB ARMC9 CXCR4 AGA SF3B4 RMRP DMD ZFPM2 HLA-DRB1 BRCA1 PMS2 CFTR GDI1 CTLA4 TTC37 KRAS SIX3 NPHP3 TCF3 RTEL1 CCDC22 ELN B9D1 RAD21 CCDC114 PEX6 IDS SOX10 ZBTB24 STAT4 FGFR2 LIG4 AKT1 MSH2 B3GALT6 HDAC8 MT-TK DISP1 SLC29A3 IL23R ARHGEF6 F12 CTRC CCDC103 MT-TE KIFBP NSD2 DHCR7 ASXL1 TGFB1 FANCM ADA2 KATNIP LMOD1 POLD1 ARX APC LRRC6 MSH6 NODAL ALG3 EP300 FOXF1 EPCAM JAK3 MLH3 TBL2 DHODH MT-ND5 GAS8 NCF2 GPC3 PEX5 PEX26 ATP8B1 XRCC2 GP1BB UPF3B GAS1 POU2AF1 RFWD3 CCNQ NRTN DNAH9 TMEM237 MT-ND6 SALL4 FLNA UBAC2 IQSEC2 RAD51C SKIV2L LRRC8A LIMK1 SHPK EDNRB DNAAF1 MBTPS2 MT-TL1 GATA1 AHI1 POLG LBR ADAM17 EWSR1 C4A RPS15A RET DNMT3B BLM RAD51 SMC3 EFEMP2 KIF7 DKC1 PHOX2B CIITA SHH SEC23B PDGFRL SLC46A1 CISD2 PAX3 RECQL4 SPINK5 CBLIF SIN3A PGAP2 WIPF1 SLC6A19 CARMIL2 FANCD2 COMT DYNC2H1 MKKS HMGA2 CDK8 MINPP1 MADD CCR1 RPL11 MECP2 RPS19 EDN3 MT-TF C12orf65 EPHX1 TCTN1 DIS3L2 BUB3 TMEM216 GLA SMAD4 DLL1 GDNF PEX10 SPEF2 SEMA3C RPS10 PRTN3 CNKSR2 ENG B3GLCT BMPR1A NOTCH3 IL12RB1 KIT DNAAF2 MCM6 MCC LTBP4 RBM10 NSUN2 HMBS ERAP1 TTC25 RNF43 CEP120 PTEN LIPA SERPING1 NDUFB11 HLA-DPA1 ATP7A CYBB NSD1 RPS28 FRMPD4 TTC7A FANCC TNFRSF1A IGLL1 RUNX1 GJB6 PIBF1 ZEB2 HABP2 SDHB MEFV HLA-B TNPO3 MT-TW FCN3 AMACR NOP10 HNRNPK GATA6 RPL5 WAC WNT2B HCCS PLVAP MAD2L2 TEK COG8 FTSJ1 PTPN12 HCFC1 CCDC39 CD79A PPP1R12A TMPRSS6 NCF4 RERE POLA1 NME8 CLCA4 PEX11B STK11 SBDS MLH1 HPGD DOK7 PGAP3 DCTN4 MKS1 CCDC151 FCGR2A CAVIN1 PIGV STAT1 FAS PIGN UFD1 SLX4 AMER1 IL21 PTPRJ ACTG2 IRGM SRCAP LEMD3 PIK3CA KDM3B GREM1 ITCH FAN1 SLC5A1 GTF2IRD1 CD55 ZMYND10 OPLAH DOCK8 DNAAF6 IL6 DMP1 SRSF2 LCT KLLN RPL15 RFC2 PALB2 BACH2 TP53 FBN2 MT-TS2 SEMA3E RPS6KA3 TWNK F13B DNAAF4 MUTYH NLRC4 HPS1 DYRK1A TYMP LPIN2 CYBC1 CDKN1B L1CAM IVNS1ABP ARPC1B LRP2 WASHC5 KITLG TMEM138 DNAH11 ACVRL1 TCTN2 SDHD SUFU USP9X CYBA SLC39A4 BUB1 EXOC6B CEP41 TNFSF15 CCBE1 FGFR3 DICER1 SETD2 EFL1 SRC FANCE CCR6 SMAD7 NAA10 CYP7B1 RARB SATB2 MYH11 IL12A-AS1 PTRH2 COL5A1 BRCA2 CBL CFC1 MVK JMJD1C HSD3B7 PTCH2 INSR GUCY2C CPLANE1 RPL27 SAA1 SPAG1 IL12A ERGIC1 ZIC2 ADAMTS3 ASCL1 ZNF81 DDX59 CDKN2C CTNNB1 WAS HYDIN BCOR RHBDF2 GREB1L SRP54 PLA2G4A DZIP1L ERCC2 PORCN SEMA3D USB1 MPI ATRX PSTPIP1 CCDC28B HYOU1 MT-TQ NIPBL RPL35A PRDM16 PIGY RPS7 DRC1 IL2RA LONP1 TFAP2A PEX16 CEP57 SDHC CLCN4 CENPF FANCF NRAS ALG13 AP1S1 CDCA7 TINF2 ELANE ITGB4 DMPK COX7B NPHP1 ZNF423 PTCHD1 ODC1 ARVCF ACOX2 DACT1 FLI1 PLG ISL1 RRM2B PIGO BAZ1B ECE1 SLC18A3 KLRC4 FANCL WFS1 SALL1 ANTXR2 MYCN STRA6 DNAJB13 POLR1D HNRNPU MYLK ITGA6 RELA TLR2 MSH3 SEMA4A KLHL7 RSPH3 PDGFRA RBM8A ABL1 ZAP70 PIGW BUB1B STAG2 RSPH4A PRKAR1A TBX1 SPINT2 PMS1 TMEM231 FARSB TSR2 CHST14 MT-ND1 MLXIPL FREM1 FGFR1 RIPK1 CPLX1 PEX2 OCRL SEC24C BDNF ITGA8 GTF2I DLC1 SETBP1 USF3 AXIN2 CCNO FBLN5 PKD1 COX4I2 MT-CO1 PRKCD PALLD XIAP NEK10 CCDC65 FRAS1 SLC7A7 RSPH1 GAS2L2 STXBP2 CC2D2A FGF20 AURKA IGHM PET117 PEX13 SMC1A DNAL1 TGFBR2 MNX1 MASP2 MAP3K7 CREBBP IL10RA DNAI2 XRCC4 FAH CYP27A1 NUP88 SNAI2 RASGRP1 AIRE DNAH1 CCDC47 MYO1H CTC1 PTCH1 ARL6 ENPP1 PEX3 NOTCH2 OFD1 CEP104 PEX14 DNAAF3 STX3 SLC6A8 POLE POLR1C DNAAF5 ABCB11 CSPP1 CDKN2A TERC PERCC1 F5 PAK3 EIF2AK3 RFXANK FAT4 SPIB PNLIP FOXE1 LETM1 ALG8 CDC45 COL14A1 MMEL1 F13A1 STAT3 BLNK ABCB1 SPINK1 CDKN2B MYC MT-CO3 AKR1D1 WNT4 AGTR2 PIEZO1 CLMP PGM3 KCNAB2 ACTA2 ERCC4 RSPH9 TJP2 TNFAIP3 KEAP1 NPM1 SLC12A2 NCF1 ZNF41 KAT6A BTK MYO5B FLCN RPS24 ARMC4 SLC9A7 CDON JAK1 RPL18 MUSK CXorf56 INAVA MTOR IRF5 GABRD ALDH18A1 CCN2 BAAT TRIP13 UBE2T RAC2 PTPN22 PLA2G2A SDHA C1R MT-ND4 RAD54B SH3KBP1 AAGAB GJB2 DNAI1 PEX12 WT1 TCF4 PIK3C2A FOXP3 PPOX RPGR SMO CPOX RPGRIP1L COG6 COL5A2 ARID1B CARD8 INPP5E SI TERT FANCB B2M NOD2 IL10 PRSS1 CAV1 COL1A1 GPIHBP1 RREB1 PKHD1 DNAJC21 ZMPSTE24 TBCE ABCB4 CFAP298 CD79B RPL35 TRMT5 SETD5 TET2 ITGB2 RPL31 HIRA VPS51 STK36 DLG3 MTTP DGAT1 TGIF1 SLC10A2 NTHL1 SLCO2A1 FANCI EYA1 GPC4 GLI2 DSE CASP10 TMEM67 MED12 FGF8 RPL26 CHD7 NEUROG3 ARL13B KMT2D BAX SKI STAT5B SAR1B SLC2A2 PIGL MMP21 MYOD1 PRSS2 FLNB MITF MT-TH ACSL4 COL3A1 WRAP53 MDM2 FOXJ1 NHP2 TP63 DHCR24 PTF1A HYLS1 FASLG CHRM3 MST1 SH2B1 CFAP300 PACS1 DNAH5 MIR17HG MYRF RFX6 IL2RB CCDC40 GPC1 PEX19 RPS17 STX1A RFX5 SYP BBS1 BRIP1 MID2 PCSK1 LRRC56 APC2 ZNF711 CFAP221 MEN1 CD3G KMT2A LRBA PARN KIAA0586 GPR35 GDF2 FERMT1 TCTN3 RAPSN TTC12 TLR4 CCND1 NEK1 CTBP1 SLC9A3 LMNA TSPAN7 RAB39B DCC ARL3 FGFRL1 RFXAP RPS26 JAK2 AK2 USP27X TDGF1 CHEK2 RPS29 SIX1 VANGL1 TCOF1 MYD88 RPS20 FOXH1 PDGFRB HLA-DPB1 PIK3R1 MCIDAS FANCG RTTN FANCA IL1RAPL1 PEX1 GNAS RPS27 CEP290 PLCG2 MT-CO2 HELLS UBE3B HP_PROTEIN_LOSING_ENTEROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_LOSING_ENTEROPATHY PLVAP COG8 BMPR1A ALG8 PTEN CARD8 PET117 DZIP1L PIK3C2A PKHD1 MPI ADAMTS3 DGAT1 CCBE1 HP_ABNORMALITY_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SMALL_INTESTINE STAT1 SBDS CDKN1A BUB1B STAG2 CXCR4 CPOX DMD BRCA1 CFTR GDI1 TTC37 SIX3 FLNA PIGN CHST14 ARID1B FOXF1 CARD8 SLX4 MLXIPL RAD21 BUB1 KDM3B FANCB FGFR1 CPLX1 DISP1 ARHGEF6 CTRC BMPR1A RPS6KA3 PRSS1 NSD2 FANCM FBLN5 PKHD1 DNAJC21 COX4I2 LCT PALB2 NODAL MYCN ALG3 FBN2 SEMA3E DLG3 MTTP FRAS1 NLRC4 DYRK1A DGAT1 TYMP SLC7A7 TGIF1 SLC10A2 SRCAP CDKN1B IVNS1ABP GPC3 FANCI ATP8B1 GPC4 GLI2 DSE PET117 XRCC2 UPF3B GAS1 POU2AF1 RFWD3 FGF8 CHD7 USP9X RAD51C IQSEC2 SKIV2L STAT5B SRP54 SAR1B AKR1D1 SHPK TNFSF15 EFL1 PRSS2 FANCE GATA1 CCDC47 MED12 CYP7B1 POLG RARB ACSL4 SATB2 PTCH1 ADAM17 PTRH2 AMACR HSD3B7 RAD51 PTF1A EFEMP2 TTC7A CIITA MST1 IL12A STX3 ZIC2 SHH MIR17HG SPINK5 ABCB11 ZNF81 PERCC1 RFX6 PAK3 EIF2AK3 RFXANK SPIB PNLIP CDKN2C FANCD2 LETM1 GPC1 ALG8 RFX5 CDC45 SYP MECP2 MMEL1 PLA2G4A DZIP1L BRIP1 STAT3 EPHX1 MID2 PCSK1 DIS3L2 BUB3 SPINK1 CDKN2B WNT4 AGTR2 ZNF711 CLMP DLL1 MPI CCBE1 MEN1 CNKSR2 LRBA IL2RA CEP57 ERCC4 RERE TJP2 GPR35 IL12RB1 CLCN4 CENPF FANCF SUFU ALG13 TNFAIP3 MCM6 RBM10 ZNF41 MYO5B PTCHD1 CTBP1 ODC1 LIPA TSPAN7 RAB39B ACOX2 BRCA2 FGFRL1 EPCAM RFXAP SLC9A7 FLI1 PLG FRMPD4 FANCC ELN USP27X RRM2B ARX CDON TDGF1 CXorf56 LBR ADAMTS3 EP300 IRF5 TNPO3 BAAT FANCL TRIP13 FOXH1 SALL1 ANTXR2 STRA6 UBE2T FANCG WAC RTTN FANCA WNT2B IL1RAPL1 PLVAP MAD2L2 PORCN COG8 RELA FTSJ1 PTEN HCFC1 PPP1R12A PEX12 TCF4 PIK3C2A FOXP3 RBM8A HP_ABNORMAL_DUODENUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DUODENUM_MORPHOLOGY TGIF1 RBM10 CDKN1B ZIC2 SHH CDKN1A BUB1B FGFR1 STAG2 FANCI GLI2 XRCC2 GAS1 BRCA1 BRCA2 RFX6 RFWD3 FGF8 SIX3 CHD7 CDKN2C FANCD2 FLI1 PIGN CHST14 PLG ARID1B FANCC RAD51C FOXF1 CARD8 SLX4 CDC45 RAD21 CDON TDGF1 PLA2G4A BRIP1 BUB1 KDM3B FANCB EP300 BUB3 DISP1 CDKN2B FANCL TRIP13 FANCE GATA1 FOXH1 SALL1 MYCN DLL1 STRA6 FANCM UBE2T FANCG RARB RTTN MEN1 FANCA PTCH1 PALB2 MAD2L2 PORCN ADAM17 NODAL CEP57 ERCC4 RERE RAD51 FBN2 SEMA3E TTC7A CENPF FANCF DYRK1A SUFU HP_DUODENAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ATRESIA TGIF1 ZIC2 SHH BUB3 DISP1 BUB1B FGFR1 STAG2 TRIP13 GLI2 FOXH1 SALL1 MYCN DLL1 GAS1 RFX6 RFWD3 FGF8 RTTN PTCH1 SIX3 CHD7 PORCN FLI1 PIGN NODAL FOXF1 CEP57 RERE FBN2 CDON SEMA3E TDGF1 CENPF BUB1 DYRK1A SUFU KDM3B HP_HEMATEMESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATEMESIS MEN1 CDKN2C DAXX WAS CDKN1B ACVRL1 CDKN1A ENG CDKN2B GP1BA GP9 ATRX GP1BB WIPF1 HP_MELENA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELENA MEN1 ITGB3 APC KIF23 SREBF1 CDKN2C DAXX CDKN1B ACVRL1 WAS CDKN1A ENG CDKN2B ITGA2 CD109 BMPR1A PTEN GP1BA GP1BB ITGA2B ATRX HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY ZAP70 STAT1 CLIP2 STK11 SALL4 MSH6 UBR1 APC MLH1 IL10RB BUB1B AXIN2 PRKAR1A SPINT2 PMS1 FCGR2A HLA-DRB1 PMS2 PIGV CTLA4 TTC37 KRAS TSR2 NCF4 FAS TP53 COG6 COL5A2 CARD8 MLXIPL FREM1 SEC23B IL21 PTPRJ ACTG2 IRGM PIK3CA BUB1 LIG4 AKT1 MSH2 RIPK1 GREM1 NOD2 FAN1 CDKN2A BMPR1A GTF2IRD1 RPS19 GTF2I DLC1 OPLAH DOCK8 PTEN USF3 TGFB1 COL1A1 ADA2 GPIHBP1 PKD1 IL6 LMOD1 ZMPSTE24 POLD1 KLLN RPL35 RPL15 RFC2 PRKCD BACH2 PALLD XIAP ITGB2 RPL31 RPS6KA3 F13B MUTYH EPCAM NLRC4 HPS1 JAK3 MLH3 TBL2 IVNS1ABP NCF2 NTHL1 STXBP2 ARPC1B AURKA CASP10 CFTR GATA1 PIGN CCNQ RPL26 TGFBR2 SDHD MASP2 MAP3K7 SOX10 RAD51C BAX IL10RA SKIV2L LIMK1 RET FGFR3 DICER1 RASGRP1 SALL1 FLNB SRC CYBC1 SMAD7 CYBB NAA10 MNX1 MYH11 COL5A1 BRCA2 MDM2 RPS15A BLM INSR MED12 KIF7 GUCY2C FASLG RPL27 CIITA MST1 POLE PDGFRL CYBA NIPBL RECQL4 POLR1C WIPF1 RFXANK CARMIL2 CTNNB1 PALB2 FOXE1 WAS MEFV BCOR CDK8 RPS17 MINPP1 RHBDF2 RFX5 RPL11 SDHB COL14A1 F13A1 ABCB1 BUB3 PSTPIP1 SMAD4 FLCN RPL35A CCBE1 RPS10 RPS7 LRBA ENG KIT LONP1 TFAP2A CEP57 SDHC TTC7A GPR35 FERMT1 NRAS TCTN3 TNFAIP3 MCC KEAP1 LTBP4 NSUN2 ELANE DMPK NCF1 COX7B BRCA1 CCND1 RNF43 FOXP3 SLC9A3 LMNA RPS24 NDUFB11 DCC DACT1 RFXAP RPS26 RPS28 ELN JAK1 CHEK2 RPS29 RPL18 VANGL1 INAVA TCOF1 HABP2 BAZ1B RTEL1 FCN3 RPS20 TRIP13 GATA6 RAC2 RPL5 POLR1D PLA2G2A SDHA RAD54B SH3KBP1 HCCS MYLK AAGAB TLR2 RPS27 MSH3 PTPN12 SEMA4A EP300 HLA-B PLCG2 TCF4 PDGFRA MKKS POLA1 HP_AGANGLIONIC_MEGACOLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGANGLIONIC_MEGACOLON KIFBP KIT PIGW SH2B1 SALL4 GDNF TCF4 SLC6A8 INPP5E TBX1 PGAP3 ARMC9 PAX3 ASCL1 CEP41 L1CAM CSPP1 SF3B4 RMRP DDX59 TMEM231 BRCA1 PGAP2 PIGV EDNRB RPGRIP1L FANCD2 COMT PIGN MKKS BCOR MKS1 UFD1 PHOX2B SLX4 B9D1 EDN3 BBS1 BRIP1 SNAI2 ACTG2 SOX10 SEMA3D FANCB TCTN1 B3GALT6 SEC24C KRAS ATRX TMEM216 PIGO BDNF ZEB2 APC2 CCDC28B DHCR7 SETBP1 FANCM RREB1 KATNIP SEMA3C RET ARX PIGY MITF PALB2 MBTPS2 HIRA ERCC4 KIAA0586 FOXF1 FANCF TMEM237 CC2D2A NPHP1 FANCI ZNF423 KITLG TMEM138 EP300 XRCC2 GP1BB CEP120 TMEM67 ARVCF BRCA2 TCTN2 ARL3 NRTN NSD1 ARL13B FANCC CREBBP RAD51C GJB6 PIBF1 AHI1 EXOC6B PIGL ECE1 SETD2 FANCL FANCE GATA1 MYO1H UBE2T NAA10 RFWD3 FANCG FANCA ARL6 MAD2L2 GJB2 JMJD1C RAD51 CEP104 CEP290 HYLS1 CPLANE1 HP_COLONIC_DIVERTICULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLONIC_DIVERTICULA BAZ1B AKT1 CLIP2 LIMK1 RET ELN RFC2 TBL2 UBR1 MLH1 MSH2 GTF2IRD1 MLXIPL GTF2I PTEN PKD1 PIK3CA HP_INTERMITTENT_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_DIARRHEA B2M TP53 DAXX POLG PALB2 PALLD BRCA2 G6PC BRCA1 CDKN2A KRAS TYMP COG4 SMAD4 ATRX ACSF3 GATA6 HP_CHRONIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_RHINITIS NME8 SPAG1 CLCN7 RSPH1 GAS2L2 RPGR DNAH1 TTC12 GAS8 CFAP300 FOXJ1 DNAH5 TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN TCIRG1 CCDC114 DNAJB13 CCDC103 DNAI2 TNFSF11 LRRC56 SLC29A3 DNAAF1 MCIDAS ZMYND10 CFAP221 CCNO RSPH9 DNAAF6 RAG2 DNAI1 SPEF2 CFAP298 LRRC6 DRC1 SNX10 OFD1 CCDC39 RSPH3 STK36 RAG1 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 HP_EXAGGERATED_CUPID_S_BOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_CUPID_S_BOW TBCK ROR2 B3GLCT HNRNPU NXN RTL1 ZNF462 HNRNPK MEG3 GPC4 DLK1 PIGT ZMIZ1 MED25 HP_LARGE_FLESHY_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FLESHY_EARS KCNH1 COLEC11 COLEC10 PIGN MASP1 TAPT1 TBL1XR1 ATP6V1B2 NARS1 ALG9 TRAPPC9 KCNN3 HP_FOCAL_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CLONIC_SEIZURE TBC1D24 FRRS1L STXBP1 DMXL2 SLC12A5 SRPX2 PCDH19 GRIN2A GABRG2 GABRA1 KCNQ2 SCN2A SCN1A KCNQ3 SCN1B SCN8A KANSL1 PRRT2 SCN9A HP_EXAGGERATED_STARTLE_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_STARTLE_RESPONSE GLRB GM2A HEXA MTHFS TRAK1 PLAA KLC2 GPHN FKTN GLRA1 ASNS FLRT1 SLC6A9 ARHGEF9 SOD1 SLC6A5 PURA HP_PAROXYSMAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSTONIA TBC1D24 DLAT SEPSECS TSEN15 TSEN34 PRRT2 TSEN54 FARS2 PNKD SLC2A1 TSEN2 HP_ABNORMALITY_OF_NEURONAL_MIGRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEURONAL_MIGRATION DCPS IQSEC1 TUFM WDR62 FKRP GNB1 SMPD4 ARMC9 ADGRG1 DLL1 ARFGEF2 SF3B4 CEP290 KIAA1109 LONP1 TP53RK SUZ12 TMEM231 C12orf4 BICD2 KCNA1 CEP152 CCDC22 MTOR USP45 LCA5 MFSD2A TSEN15 LARGE1 B9D1 FMR1 ANKLE2 ARX PEX6 PIGQ NEDD4L COPB2 ZMYND11 NODAL SIK1 TBC1D20 PEX2 PIK3R2 FKTN RAC1 SNRPN TBC1D24 SEPSECS TAOK1 KIFBP DHCR7 ASXL1 MYT1L POMT1 GPX4 KATNIP FRRS1L RNU4ATAC ERMARD NDN ASH1L PLK4 EOMES CRADD PDGFB B3GALNT2 OFD1 CEP85L FRAS1 CRPPA EPG5 DEAF1 BMPER MAP11 TMEM67 PEX5 CC2D2A WASHC4 PAFAH1B1 PEX26 CTNNA2 MAN1B1 GUCY2D PIK3CA SLC45A1 INPP5E MBOAT7 SLC25A22 PEX13 BRSK2 DYNC1I2 MLYCD DYNC1H1 COL18A1 TMEM237 LAMA1 GDF6 AKT3 ACTB POMT2 PLAA PEX19 VAC14 FBXO31 CASK SHMT2 C2CD3 RAB18 NBN RAB3GAP2 ADD3 WDR4 GRIK2 SLC20A2 SARS1 RELN MCPH1 PEX1 CPLX1 SCN1B FOXG1 KANSL1 ALG11 CDH15 AHI1 FTO DHX37 ERCC1 NARS1 KIF5C IMPDH1 NFIX GMNN LAGE3 ODC1 PEX3 WDR73 DCHS1 KIF1A KIF2A DOCK8 SUFU XPR1 CAMTA1 CEP104 CDKL5 ZC3H14 IFT140 PEX14 RAB11A MED12L CCND2 STXBP1 FLNA NSUN2 RPGRIP1L KDM5B GRIN1 STIL PDHB AIPL1 SPATA7 MN1 PIGB POMK RECQL4 LAMB1 PI4KA TUBB2B CSPP1 YWHAE SRPX2 TUBB3 ARF1 DISC1 CLTC EIF2AK3 TMEM216 PYCR2 VIPAS39 PHC1 PEX11B ASPM PCYT1A FDFT1 COL4A1 COL3A1 HIVEP2 TUBGCP6 GMPPB MED25 KATNB1 LAMC3 TCTN1 PPP3CA ETFDH TMEM107 TRPM3 ACTG1 PGAP1 LAMA2 ZEB2 PDHA1 TUBA8 SCN2A SLC5A6 PEX10 B4GAT1 EDC3 POLR3A DONSON DMXL2 TRAIP GLI2 GAS1 TUBB2A DCX LMAN2L AKT1 CENPJ HSD17B4 GNAO1 GRIN2B KCNQ5 ATP6V1A CAMK2A RAB3GAP1 KIRREL3 ARHGAP31 OCA2 CEP120 SLC25A24 OSGEP ST3GAL3 KAT6B PDGFRB MACF1 POMGNT1 EEF1A2 DAG1 SCN3A ASNS WDR26 RALGAPA1 SET RSRC1 PIBF1 ZSWIM6 CDON CIC TAF13 SLC25A19 EXOC7 TECR CIT HNRNPK PMS2 ATP6V1E1 ATP6V0A2 INTS8 ZIC2 TCTN3 SHH PIGC PPP1R12A CRB1 KIF11 TSEN2 CSGALNACT1 SPOP VPS33B RDH12 RPS6KA3 KIAA0586 COG6 USP9X DOCK6 PTCH1 CLIP1 DISP1 MAPK8IP3 MBD5 RXYLT1 ZNHIT3 CDK6 KAT8 NDST1 WT1 MAGEL2 ANKRD11 KIF7 NUP133 MED23 KCNJ13 HYLS1 OCLN FAM149B1 ETFB CRBN MYORG CDK5RAP2 CSNK2B POMGNT2 PTEN USP18 TPRKB CPLANE1 TRRAP CACNG2 RPE65 TMTC3 GFM2 SIX3 PRSS12 PDE6D PNKP DYRK1A PHGDH CAMK2B ATR CENPE KNL1 FMN2 FGF8 RPGRIP1 SASS6 KIAA0753 WASHC5 TMEM138 ATN1 MLH1 ASCC1 FOXH1 PRKDC ZMIZ1 MED12 TCTN2 APC2 PSAT1 SON CLP1 TULP1 SNAP29 ARL13B RD3 CDH2 FAT4 ISCA1 TSEN54 TUBGCP2 EML1 TUBG1 THOC2 CEP41 CCBE1 METTL23 EPB41L1 NEUROD2 RTTN CTU2 MAP1B DHCR24 SYNGAP1 DLK1 CEP135 VLDLR FIG4 ETFA IQCB1 EIF2AK2 ADAMTS3 CEP63 PEX12 LRAT NCAPD3 CC2D1A SRD5A3 QARS1 GPHN MKS1 NSDHL PIGP HNMT AHDC1 CUL4B VPS35L TUBA1A FGFR3 TRIM8 CDK5 KIF14 NDE1 TGIF1 TUSC3 METTL5 TNIK CRX JAM2 MEG3 EZR RTL1 TDGF1 CCDC88A PEX16 CSF1R LINS1 PLP1 ZNF335 MECP2 TBR1 AIMP1 NPHP1 ZNF423 STS FH XRCC4 NMNAT1 CPT2 NEK1 IER3IP1 MPDZ ARL3 FLI1 IBA57 TUBB TUBGCP4 TRAPPC9 TSEN34 TMX2 DHX16 CRB2 PAX6 GPSM2 CUX1 CHAMP1 RMND1 ATXN2 SMO CSNK2A1 TCF4 NUP107 KLHL15 TBL1XR1 HIC1 HP_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPARESIS SLC19A3 TARDBP GJA1 SLC25A10 GAD1 SQSTM1 ADAR UCHL1 BSCL2 NDUFS3 NEK1 NEXMIF PDHX LMNB1 C9orf72 TBK1 CHCHD10 COL4A1 CARS2 GALC UGP2 GBE1 AGTPBP1 NAXE FUS LIMS2 TNFRSF11A MT-ATP6 VCP LRP4 ARFGEF2 PNP HINT1 SARDH NUP62 PPOX HP_POOR_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_MOTOR_COORDINATION HTT PDHX BMPR1B DMPK PIEZO2 FXN POMT2 PCDH19 CXCR4 STX1B MFN2 KCNQ2 RAD51 MEG3 ALMS1 C19orf12 DLK1 SLC2A3 PWRN1 ADGRV1 RDH11 DNAL4 RAI1 ATP7B GCDH HERC2 MMACHC HCN1 POMT1 MKRN3 PMPCA SNORD115-1 GMPPB PRNP RTL1 SLC30A10 NDN PWAR1 LARGE1 FMR1 VCP GABRG2 ZEB2 DCC SCN1A STXBP1 CAMTA1 BSCL2 FOXP2 GABRA1 SCN2A NTN1 GABRD THG1L C12orf65 GNB5 PPP2R2B DARS2 MAGEL2 VPS13A NPAP1 SCN1B DCX SCN9A SNORD116-1 FKRP SNRPN RNU12 HP_ENLARGED_CISTERNA_MAGNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_CISTERNA_MAGNA FOXC1 BRF1 OPHN1 ACADVL NSD1 RAC1 SETD2 FLNB APC2 POGZ POMT1 SLC5A6 ALDH18A1 PMM2 PACS2 KIAA0586 CNOT3 PIGU COG1 PMPCA CDH2 VPS51 CSPP1 OFD1 POLR2A HP_GRAY_MATTER_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAY_MATTER_HETEROTOPIA FLNA WDR62 PDHB FKRP CEP63 C2CD3 NCAPD3 LAMB1 ARFGEF2 KIAA1109 ARF1 POMGNT1 PYCR2 PHC1 CRPPA CEP152 HNRNPK MFSD2A VPS35L TUBA1A ASPM FMR1 FGFR3 NEDD4L COPB2 KAT8 GMPPB ANKRD11 KATNB1 KIF14 STIL TMEM107 ERMARD HYLS1 CDK6 METTL5 ZEB2 DHCR7 ASXL1 ARMC9 POMT1 ANKLE2 PTEN RNU4ATAC USP18 B4GAT1 TMTC3 CSF1R PEX1 CEP85L AKT1 CENPJ CIT EPG5 KNL1 MAP11 PAFAH1B1 SASS6 MAN1B1 MLH1 SLC25A24 ZMIZ1 TBC1D24 MED12 MPDZ KAT6B APC2 POMK DCX CDH2 LAMA1 RALGAPA1 FAT4 FKTN TUBGCP2 EML1 TUBB2B ZSWIM6 TUBG1 ADD3 TAF13 MCPH1 DHX16 CPLX1 CRB2 KANSL1 ALG11 GPSM2 DCHS1 PMS2 CDK5RAP2 RTTN INTS8 POMT2 KIF2A MAP1B PPP1R12A OFD1 CSGALNACT1 CEP135 HP_GLOBAL_BRAIN_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOBAL_BRAIN_ATROPHY ST3GAL5 TARDBP PNPO UNC80 PUF60 SQSTM1 CYB5R3 SURF1 ALG9 PCDH19 GFM1 PIGT TBK1 PRNP CHCHD10 TXN2 NDUFB8 SPATA5 SON ABCD1 FUS PYCR2 VCP RAB3GAP2 SMG9 CYB5A PLA2G6 WDR81 PANK2 GABRG2 NDUFAF3 RNF113A STXBP1 ALG13 AIMP1 ACTL6B GABRA1 TIMM8A NDUFS2 SCN2A C9orf72 TDP1 TANGO2 SCN1A TBCK L2HGDH SCN1B PSAP SCO2 SCN9A HP_FAIR_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAIR_HAIR PDE4D UROC1 UBR1 PAH TP63 RMRP UBE3A LPAR6 SLC17A5 ABCA2 KANSL1 AP3B1 ESCO2 PRKAR1A PIGN HP_ALOPECIA_UNIVERSALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_UNIVERSALIS VDR HR DSP AHSG IL2RA LMNA TRPV3 AIRE HP_FRONTAL_BALDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_BALDING NR3C1 CNBP DMPK PQBP1 ALMS1 WNT4 HP_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_OF_SCALP SLC29A3 GTF2H5 LAMB3 ITGB4 ECM1 MPLKIP GTF2E2 SLC39A4 ERCC3 RNF113A KLHL24 KRT14 LAMC2 RHOA COL17A1 TP63 CLDN1 LAMA3 PLEC ERCC2 GJB2 COL3A1 TTC7A EBP TARS1 MBTPS2 HP_RED_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_HAIR PRKAR1A PDE4D OCA2 TYRP1 POMC PCSK1 ZNF469 MC1R HP_ABSENT_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAIR UBE3B SOX18 KRT85 CDH3 GNRH1 SNRPE POLR1C ODC1 TWIST2 LMNA EPS8L3 NECTIN4 ALX1 AR LRP1 APOE ANAPC1 GJB2 RIPK4 PPP2R3C SMARCA2 TCOF1 TP63 UROS EDA ZMPSTE24 MBTPS2 NR5A1 KRAS BRAF MAP2K2 PHGDH GJB6 HOXC13 POLR1D TBX3 ZBTB20 TTC7A HR EDARADD FRAS1 PKP1 HP_BRITTLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRITTLE_HAIR KRT81 GTF2H5 KRT86 DSG4 KRT85 ATAD3A ERCC3 RNF113A ZMPSTE24 SPINK5 PQBP1 BCS1L TTC37 KRAS TARS1 KRT25 GJA1 KRT74 CARS1 ERCC2 SKIV2L BRAF OFD1 PORCN TRNT1 MPLKIP EDA ASL GTF2E2 CDSN ST14 KRT71 KRT83 GJB6 SEC23A LIPH LPAR6 MAP2K1 HEPHL1 CBS SLC25A24 ATP6V0A2 CDH3 NECTIN1 RPS23 MAP2K2 HP_MUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUTISM HTT TARDBP PRDM8 PSEN1 CHMP2B SQSTM1 AMER1 VCP TCF4 COX7B COL1A2 NDUFA6 PLEC MAPT SETBP1 FTL TBK1 GRN NDUFB11 SLC9A6 TREM2 C9orf72 SLC2A3 CHCHD10 GABBR2 CSF1R TBP MECP2 GRIN1 FUS FGFR1 EHMT1 KRAS TMEM106B GLE1 PRPS1 NTNG1 PIK3C2A CDKL5 HNRNPA2B1 SLC19A3 ACTG1 SMARCA2 CKAP2L ACTB STXBP1 ATP1A3 HCCS COL1A1 HNRNPA1 ADAMTS2 ASAH1 HP_HEMIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA PRF1 SCN1A TBC1D24 ATP1A2 CACNA1A SNORD118 SPP1 HLA-DPB1 GALC ADA2 PTPN22 HLA-DPA1 SLC1A3 PAH STAT4 NOTCH3 PRTN3 GNAQ COL4A1 PRRT2 CTC1 IRAK1 ATP1A3 MT-CYB FGFR1 DOCK8 COL4A2 SUOX KRAS CTLA4 ARX HP_AKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AKINESIA TMEM240 RAPSN SLC18A3 FLVCR2 GIGYF2 NUP88 DOK7 MYOD1 EIF4G1 CHRNA1 MAPT CHRNG DNAJC6 PODXL VPS35 ERBB3 FGF14 FXR1 SYNJ1 DNAJC13 SNCA LRRK2 CHRND ATP13A2 TOR1A GBA CNTN1 PANK2 MUSK CP VPS13C HP_ATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATHETOSIS AUH PRRT2 NDE1 PLP1 CACNA1A CYB5R3 SLC6A8 FOXRED1 PHGDH EPRS1 FOXG1 SLC46A1 TWNK CACNA1D WARS2 SMPD1 SCN8A UQCRQ NGLY1 ACO2 PDGFB SUCLA2 CUX2 PDGFRB GNAO1 ABCC8 TRAPPC11 PIGN PIGV KCNA1 SLC17A5 GCDH GAMT UBQLN2 SLC16A2 KIF5A CYB5A HCFC1 SLC20A2 ALDH18A1 RNASET2 UBA5 HP_ARNOLD_CHIARI_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_MALFORMATION MAN2B1 FGFR2 SETD2 CLIP2 VANGL1 TBL2 NOVA2 MAF TONSL DNMT3A MKS1 DACT1 RFWD3 FANCI SLC39A14 SON ZIC1 SKI DKK1 NOTCH3 HMGA2 POLR3A PHEX FOXF1 CREBBP ELN MAP3K7 MLXIPL CDC45 KANSL1 PORCN NOTCH2 HRAS LEMD3 ZEB2 BAZ1B LIMK1 TGFBR1 FLNA SALL1 GTF2IRD1 GTF2I FBN1 SC5D SETBP1 PAX2 FGFR3 POR ERF RFC2 PIK3CA FGFR1 TBL1XR1 SMO GNAQ RRAS2 EP300 NFIA PTCH1 PPP1R12A FUZ PPP1CB CHD4 TGFBR2 NONO DHDDS SIK3 HP_OROFACIAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROFACIAL_DYSKINESIA PNPT1 SLC18A2 PDE10A FGF14 PLP1 COQ2 ADCY5 IREB2 FOXG1 SLC6A3 FTL MICU1 PRRT2 PRKRA GNAO1 CHMP2B ATXN7 VPS13A PANK2 SLC35A1 JAM2 MRE11 HP_INCOORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOORDINATION SCYL1 CLN8 MAPT ATP6AP2 GPHN SLC25A15 MFN2 MTPAP TPM3 ALMS1 ALG2 VCP DNAL4 TXN2 ATL1 VPS35 DNAJC13 HCN1 TPM2 MT-ATP6 MLXIPL GABRG2 TIA1 COL12A1 DCC NSD1 KCND3 ALG13 GLRA1 SLC52A3 POGZ NEB SPTBN2 B4GALNT1 POMT1 NTN1 MTR LYST MYPN DARS2 NEFH AFF2 RPIA TANGO2 PDCD1 SCN9A ERCC4 CRPPA MAN2B1 PDE10A GFPT1 PLEC ADAR PCDH19 TWNK STX1B ARSA ARG1 FHL1 ARHGEF2 GALC TBC1D24 DEAF1 BSCL2 MRE11 TCF20 TCF4 SDHAF1 HADHB SDHA CARS1 ABCA2 PRNP SYNE1 HINT1 PLA2G6 KCNA1 POLG2 NUP62 ADSS1 SLC22A5 SIM1 STIM1 ELP1 C19orf12 TPP1 SETD2 EEF2 SET EIF4G1 ATXN3 CPLX1 SGCA GRIN2A FKRP PSAP GRID2 GDAP2 SCN2A SCO2 CAPN3 TTN GABRD NOL3 ARL6 PANK2 HADHA LRRK2 ACTA1 GBA MTFMT SCN1B RNU12 KIF1C ASAH1 GRM1 SDHD HSD17B10 SLC2A3 CACNA1A GMPPB SQSTM1 HLA-DRB1 SLC6A8 ATP1A3 PMP2 PIK3R5 MTHFR KCNC3 RRM2B PYROXD1 COL6A3 RNF125 BBS1 GJB1 EED DAB1 ACOX1 SYNGAP1 ALG14 SLC25A1 APC2 NOP56 TGM6 CCDC28B LMBRD1 ABCD1 SGCG KBTBD13 NKX2-1 TTC19 YWHAG SCN1A SNCA UBE3A VPS13D COLQ PMPCA COX20 HTT POLG FRRS1L SLC52A2 KLHL41 ATP2B3 DPAGT1 MED13L HUWE1 CLN5 CAV3 RNF168 DYRK1A ATXN10 EP300 COL6A2 RAD51 HEPACAM ADGRV1 RDH11 FA2H LAMB2 TAF1 CREBBP FIG4 ELN COL6A1 TBC1D23 FKTN POLR3A CHP1 GALT DYNC1H1 STXBP1 GIGYF2 COQ2 GABRA1 ATP7B SDHB SLC18A2 ATXN8OS MT-TE RORA SLC25A4 HLA-DQB1 CWF19L1 HP_CLUMSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUMSINESS HTT MAN2B1 FRRS1L CLN8 SLC52A2 KLHL41 ATXN3 ATP2B3 ARSA TWNK ACTA1 CLN5 ASAH1 CAV3 RNF168 GALC TBC1D24 RAD51 HEPACAM DEAF1 SLC2A3 PLA2G6 SQSTM1 PRNP DNAL4 PSAP KCNC3 TPM3 MAPT RNF125 SYNE1 POLR3A KCNA1 GALT TIA1 SLC22A5 ACOX1 DCC GJB1 TPP1 ALG13 MYPN CPLX1 GRIN2A SLC52A3 NEB SCO2 CAPN3 NTN1 TPM2 KBTBD13 NKX2-1 PANK2 ATP7B DARS2 UBE3A TTN AFF2 CWF19L1 HP_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARESIS RNASEH2B ADAR CCDC88C MED13L PLP1 SPART MAG RNASEH2A ARG1 SLC25A15 GALC SPG21 MTPAP SDHD C19orf12 BCOR CPT1C TRMT10A SAMHD1 PPP1R15B BTD SDHAF1 GJA1 FA2H SDHA GOT2 SLC30A10 SOX10 IDUA SELENOI WDR45 COASY AIMP1 EDNRB SPG7 PEX16 TREX1 PNP C12orf65 TBCE AFG3L2 TTC19 GJC2 MICOS13 SDHB RNASEH2C MTHFR GBA OPA3 ATP6AP2 POLG IFIH1 HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS TARDBP CPT1C SPG11 SPG7 RTN2 SPAST SQSTM1 PLP1 WASHC5 FUS ATL1 DCTN1 NEFH VCP PRPH NIPA1 SLC33A1 C9orf72 TBK1 SOD1 CHCHD10 HP_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEADACHE RNASEH2B UNC93B1 JAK2 DNM1L SLC2A1 CDKN1A CD46 MT-TS2 C11orf95 PRKAR1A SDHB SPP1 SMARCE1 SMAD4 FGFR3 MT-CO3 FARSB PMS2 KRAS GCDH FAS COL5A2 SAMHD1 F8 EPAS1 THPO APP EPM2A CDH23 AMER1 MT-ND1 SLC19A2 STAT4 FGFR2 PDCD10 SMARCB1 MAOA MT-TF CACNA1A CTNNB1 CFI ACVRL1 FAN1 IL23R PTPN22 GBA IL10 SDHAF2 FH SOST VHL GP9 COL1A1 ENG DNAI1 KCNA1 ERF MT-CO1 PRKCD MSH6 MTHFR GRIN2A SMAD3 IL12B TNFRSF1A BAP1 KCNK18 ADAMTSL1 MYORG TWNK SDHD PRRT2 EPCAM GP1BB RET CFH MLH3 LPIN2 ADAR MT-ND5 CDKN1B ADA2 ATP1A2 SRPX2 MT-TC RELA MT-TL1 GPR101 CASP10 EGF FLI1 PDGFB NLRP3 TBK1 CLCNKB MEN1 CPT2 DKK1 KCNJ5 MT-ND6 UBAC2 NAGS NLRP12 SLC1A3 NF1 BCAT2 ALX4 TREX1 MT-TV POLG2 MSX2 SCN1A SDHA AKT1 GATA2 RASGRP1 SLC25A11 IL12A CORIN MT-CO2 TGFB1 CYB5R3 MT-TH ACSF3 POLG RNASEH1 NOTCH3 TNF RNASEH2C COL3A1 IL12A-AS1 COL5A1 IRAK1 PGK1 C4A MVK HELLPAR PDGFRB MSH2 EDNRA MT-ATP6 NOP56 FLT1 EPOR IFIH1 FASLG SMO KIF23 SH2B1 MLX ZFHX2 TRAF7 TERT IRF3 AIP MT-CYB KRIT1 RASA1 MEFV TWIST1 TGFBR2 NFIX NDP SLC6A19 CDC73 KIT LRP5 COL4A1 CDKN2C KL MPL KYNU RRM2B CCR1 TP53 SAMD12 CNTN2 MT-TQ TMEM127 CYP11B1 PEX11B PTEN USP8 CDKN2B GP1BA NHLRC1 HTRA1 CLCN2 MT-TW CYP11B2 TTR TRAF3 PRTN3 SUFU ESR1 TLR3 CNNM2 MLH1 MT-TK GDF2 NF2 APC ELANE CCM2 TICAM1 PIK3CA ERAP1 MAX TLR4 DNMT3A ADRA2B GABRG2 CTNND2 MDH2 RNASEH2A RNF168 PMS1 HLA-DPA1 YEATS2 SH2B3 PIGT CACNA1D ACP5 MARCHF6 SDHC STOX1 CTLA4 NOTCH2 OPA1 DLST VANGL1 MYD88 HLA-B KLRC4 SLC12A3 SPOP TET2 RPS20 CSNK1D BRAF HLA-DPB1 MT-ND4 AMACR HTR1A SEMA4A BMPR1A AP2S1 STIM1 KIF1B SLC25A4 HP_UNSTEADY_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNSTEADY_GAIT CCDC88C ARV1 REEP1 KIF1C PDHX ATP6AP2 TRAK1 HTT ATXN10 EIF2B1 MGAT2 NTRK2 ERCC6 MAPT CHD3 DHPS AIFM1 BSCL2 QRICH1 GABRG2 SHANK3 FGF12 PMP22 CACNA1A MME SLC1A2 DDHD1 EIF2B4 KCNB1 PDE10A VWA3B KCNQ5 MAPK8IP3 GABRB2 STUB1 PAK1 NECAP1 MCM3AP AARS1 KIF1A DAB1 P4HTM DALRD3 GRIN2D SYT14 XRCC1 SZT2 GAN SCN8A SAMD9L PNPO ZSWIM6 PPP3CA EIF2B5 CACNA1G STXBP1 AP3B2 PPP2R2B DARS2 HPDL RNASEH1 PRNP CLCN4 GARS1 PMPCA TPI1 PEX2 SYNJ1 ATXN8OS MATR3 EEF1A2 NUS1 CLTC PPP2R5D KDM5B GABRA2 SLC13A5 DAG1 ATP2B3 HACE1 EP300 ERCC8 PLA2G6 PRKRA DEAF1 CIZ1 EIF2B2 HCN1 CDK19 CYFIP2 EXT2 WWOX CREBBP SYNGAP1 UBA5 CYP2U1 ATP7A SACS CACNA1B CRAT ATP6V1A OPA3 BCL11B EIF2B3 CNKSR2 ADSS1 KCNA2 GLRX5 GJB1 CAMTA1 HERC2 GABRA5 DHX16 TRPC3 SCN3A RNF170 PARS2 MAST1 PCNA NAT8L ATP1A3 SMS ACTL6B RUBCN SGCA DCPS DNM1 DPM3 CWF19L1 STAG2 NF2 YWHAG VAC14 PACS1 MTFMT RAB11B DHDDS HP_CERVICAL_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_MYELOPATHY GALNS EXT2 GLB1 ARSB COL2A1 EXT1 HP_VERTIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTIGO SDHD JAK2 TECRL NPM1 NAGA ZBTB16 SDHB MVK CALM1 COCH NABP1 RET SLC1A3 STAT5B FOXI1 GCDH MPL EPAS1 STAT3 THPO MYO7A CACNB4 VHL RYR2 CDH23 CCR1 CALM2 TRPM4 STAT4 B2M TMEM127 CACNA1A PRKAR1A DBH CTNNB1 IL23R PTPN22 IL10 SDHAF2 FAS GLA FH SCN1A PML CACNA1G TRDN BCOR MYL2 CNNM2 TBL1XR1 NF2 PDGFB CASQ2 CCND1 ADA2 ERAP1 MAX TLR4 ATP1A2 DNMT3A MDH2 RARA EGF NKX2-5 TPK1 FLI1 SCN1B SCN5A AIP SH2B3 CLCNKB MEN1 DKK1 NUMA1 SCN2A UBAC2 TNFRSF1A JUP SDHC KCNA1 DLST MYD88 MEFV HLA-B GYG1 SDHA FIP1L1 KLRC4 GATA2 SLC12A3 TET2 SLC25A11 IL12A NF1 BRAF PRRT2 COL3A1 IL12A-AS1 KCNJ10 C4A NOP56 IRF2BP2 CALM3 EPOR KIF1B SLC26A4 HP_RESTING_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTING_TREMOR POLG ATP6AP2 PINK1 CHCHD2 ADCY5 MAN1B1 LRRK2 DNAJC6 PODXL TBP FTL NR4A2 GBA GABBR2 ATXN8OS VPS35 MECP2 PARK7 DNAJC13 TAF1 RRM2B MAPT GLUD2 OPA3 POLG2 FMR1 VPS13C NTNG1 DNMT1 TWNK CDKL5 GIGYF2 COQ2 ATXN2 EIF4G1 CACNA1G RAB39B ADH1C STXBP1 SNCAIP SNCA SYNJ1 VPS13A MICU1 ATP1A3 SLC25A4 HP_ANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANENCEPHALY RNASEH2B TMEM107 ADAR VANGL1 SNRPB GLI3 TBX1 FUZ DACT1 TRIM36 TMEM216 CEP55 RNASEH2A GP1BB KIAA0586 MKS1 ARVCF HOXD13 KIF7 WDPCP TMEM231 CHD7 SAMHD1 CEP290 COMT CC2D2A TMEM67 GPKOW RPGRIP1 UFD1 B9D2 HYLS1 TBXT RPGRIP1L CSPP1 VAC14 CCL2 NDE1 SEC24C FLVCR2 TCTN2 TBC1D24 WDR81 TBX15 FIG4 TREX1 SF3B4 VANGL2 PHGDH RREB1 FANCB B4GAT1 RNASEH2C SMOC1 HIRA JMJD1C SEMA3E IFIH1 B9D1 HP_HYDRANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDRANENCEPHALY SNRPB CEP55 NDE1 FLVCR2 PHGDH GPKOW WDR81 TBX15 HP_TRANSIENT_ISCHEMIC_ATTACK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_ISCHEMIC_ATTACK GLA JAK2 ENG MAT2A NKX2-5 TGFBR2 TBX20 SMAD4 ABCC6 PRKG1 RNF213 ACVRL1 TET2 SON MPL THPO MYBPC3 COL3A1 ACTC1 ACTA2 MYH6 THSD1 CALR MFAP5 TGFBR1 LOX ENPP1 TP53 KRAS GATA4 PIGA ACTG1 CITED2 HTRA1 SMAD3 NR2F2 SH2B3 FOXE3 ACTB NOTCH3 SMARCAL1 TGFB2 ANGPTL6 GATA6 ELN MYH11 CRELD1 ZMPSTE24 TGFB3 TGFBR3 GDF2 FBN1 MYLK TLL1 LMNA HP_DROWSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DROWSINESS SLC19A3 AK9 MAN2B1 MUSK KIF1A CHRNA1 THRA PIGG LRP4 COL13A1 ATP1A2 SLC13A3 ABCC8 FBP1 CHRNE HCRT CACNA1A CHRND UCP2 SCN4A SPR PDHA1 LONP1 SLC25A13 AGRN KCNJ11 RAPSN MTRR NAGS HNF1A ZNHIT3 MT-CYB PTS HNF4A CHRNB1 DOK7 HP_RECURRENT_PAROXYSMAL_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PAROXYSMAL_HEADACHE SDHD TMEM127 SDHA MT-ND5 MAX MT-TW SLC25A11 DNMT3A MT-CO3 SDHAF2 MT-TL1 FH PRKAR1A MDH2 SDHB NF1 VHL MT-TQ MT-TH RET MT-ND4 MT-CO1 DKK1 EPAS1 MT-ND6 MT-ND1 SDHC MT-TS2 MT-TF MT-CO2 DLST KIF1B HP_MOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DETERIORATION NOTCH3 FRRS1L SDHB GALC SDHAF1 RBM28 PLEKHG4 GRIN2A HGSNAT SDHA CLN5 PRKAR1B TK2 CLN6 SDHD MECP2 PAH HP_ABNORMALITY_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBELLAR_VERMIS WDR35 SOX4 BUB1B ARMC9 EVC FDXR CEP290 HHAT AP1S2 ARID2 TMEM231 FGFR1 ZIC1 BCOR NPHP3 RPGRIP1 CCDC22 TUBB USP45 LCA5 GMPPB TSEN15 LARGE1 B9D1 CEP55 OFD1 ARL3 RAC1 TBC1D24 SEPSECS WDR81 CEP164 DHCR7 ASXL1 FKRP KATNIP RNU4ATAC KIAA0586 TDP1 KIF7 SEMA3E SACS B3GALNT2 TMEM107 BRF1 TMEM67 GPC3 CC2D2A GUCY2D INPP5E LMX1B RAB3GAP2 GRID2 DYNC2H1 CPT2 TMEM237 FRMD4A PMPCA DYNC2I2 MYO5A MKS1 LAMA1 GOT2 GDF6 POMT2 C2CD3 RAB18 WASHC5 NUP88 GRIA3 ACY1 RPE65 POMT1 AHI1 FTO CDKN1C TSEN34 PSAT1 IMPDH1 SPECC1L ODC1 DCHS1 EBP CEP104 NOP56 IFT140 MAB21L1 RAB11B DPH1 SMARCA4 RPGRIP1L TBC1D20 AIPL1 SPATA7 NID1 POMK TMEM216 DPF2 CSPP1 NCAPG2 PMM2 IFT172 GRM1 POLR3A FA2H SMG9 WDR73 PCYT1A COL4A1 GPC4 NRAS TCTN1 BUB3 TCTN2 RBM10 BMP4 ZEB2 ALX4 SMARCD1 B4GAT1 TMEM138 STXBP1 EVC2 COX20 TMEM240 ATXN8OS ATP6V1A RAB3GAP1 EXOSC8 TRAPPC9 CACNA1G CDC42 CEP120 SLC25A24 B4GALT1 SLC35A2 NSD1 TAF1 POMGNT1 DAG1 PRKCG ADGRG1 SMARCE1 MDH1 ARID1A MUSK OPHN1 ZNF423 PIBF1 RNF113A CACNA1A IFT80 SRPX2 TRIP13 SLC25A19 EPG5 SMARCC2 TBCK LRRC32 ATP6V1E1 ATP6V0A2 PLG TCTN3 SEMA6B SMARCB1 CRB1 SETX PACS1 MRE11 FKTN RDH12 DOK7 USP9X PIGN ASXL3 ARID1B RXYLT1 PAFAH1B1 BUB1 PIEZO2 KCNJ13 HYLS1 SRD5A3 FAM149B1 THG1L CPLANE1 TRRAP MPL PDE6D VPS51 CRPPA MEF2C PHGDH ATR L1CAM DENND5A KIAA0753 PUM1 ATN1 PRKDC TSEN2 TULP1 ITPR1 ARL13B COG1 RD3 TSEN54 ATXN1 THOC2 CEP41 SETD2 MYOD1 TMCO1 PGAP1 SCYL1 RERE INPP5K TUBB3 RNU12 FOXC1 IQCB1 INTS1 LRAT SIL1 NPHP1 MME QARS1 DAB1 CUL4B VPS35L TUBA1A SOX11 IGF2 SUFU MVK APC2 CRX B9D2 GLI3 TFAP2A CEP57 PPP1CB CENPF DYNC2I1 FAR1 RAPSN PCGF2 ATP2B3 KIF1A NUP37 XRCC4 NMNAT1 NEK1 CHD7 WDPCP HTT HRAS CHP1 PIK3R5 DLG4 GJB1 SLC18A3 FLVCR2 WARS2 PEX16 KCNQ1 KCNQ1OT1 KRAS PI4KA CACNA2D2 POMGNT2 PIGU KLHL7 EBF3 TRPC3 FAT4 CWF19L1 HP_AGENESIS_OF_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CEREBELLAR_VERMIS INPP5E RNU4ATAC TMEM216 CEP290 TFAP2A ITPR1 MVK ZEB2 ALX4 PDE6D MEF2C HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY HTT JPH3 NDUFAF3 OPHN1 SURF1 ADAR COASY BSCL2 FOXP2 TYROBP FTL TIMM8A NDUFS2 SLC2A3 NDUFB8 GCDH VPS13A ATP13A2 MT-ATP6 TREM2 DCX NUP62 TUBB2B SCO2 HP_CAUDATE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDATE_ATROPHY HTT JPH3 OPHN1 VPS13A BSCL2 FOXP2 TYROBP TREM2 FTL TIMM8A SLC2A3 HP_CERVICAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_CORD_COMPRESSION EP300 EXTL3 COMP CREBBP IDS RMRP IDUA HP_INTELLECTUAL_DISABILITY_MODERATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MODERATE DCPS IQSEC1 PIGW NFIX PUF60 CDH11 TCF4 PGAP3 FBLN1 PRMT7 MBOAT7 AP1S2 FGFR3 DMD SHANK3 NHS GDI1 C12orf4 SPATA5 USP9X GRIN1 ASXL3 CLIP1 MED13L THOC2 DMXL2 FMR1 PSPH MBD5 KANSL1 PREPL ZMYND11 NDST1 PRPS1 MAGEL2 ANKRD11 ZNF711 MAN1B1 NCAPH MED23 FAM126A SNRPN ARHGEF6 TAOK1 RPS6KA3 CRBN SLC35A3 PAX1 MYT1L CDK5RAP2 CSNK2B TGM6 PPM1B FRRS1L MECP2 NDN CACNG2 TAF1 PCDH19 ANK3 PRSS12 AKT1 ASH1L ATRX KIF5A CRADD DLG3 INPP5E SLC3A1 XYLT1 CAMK2B DEAF1 FMN2 RBMX KDM5B EGF TMEM67 WASHC4 SLC45A1 SETBP1 UPF3B CAMKMT TBC1D24 BRSK2 FOXP1 ZIC1 ENTPD1 COG1 IQSEC2 PTRH2 HPRT1 PIGV TTI2 FBXO31 CASK SHMT2 PTDSS1 PIGL GRIK2 OPHN1 SARS1 SETD2 METTL23 APC GRIA3 CPLX1 EPB41L1 MED12 CDH15 UBE2A FGFR2 COL1A2 ACSL4 SATB2 EXT2 RTTN SMOC1 HUWE1 TMEM70 DCHS1 KIF1A DOCK8 SYNGAP1 L1CAM YY1 ZC3H14 RAB11A MED12L STXBP1 NSUN2 RPGRIP1L STAG2 LAMA1 GRIN2A CC2D2A RSPRY1 ZNF81 TUBB3 TWIST1 CC2D1A PGAP2 MAB21L2 CUL4B CLTC PAK3 WDFY3 DNMT3A COG5 HNRNPK HNMT GLUD1 SYP KLF13 HIVEP2 MED25 MID2 PPP3CA DYNC1H1 B3GALNT2 EBP TRPM3 CHRNA7 PLP1 TUSC3 PGAP1 APC2 AGTR2 NCAPD2 ALX4 PGM3 TNIK EZR EDC3 CNKSR2 PIGY POLR3A OCA2 CLCN4 LINS1 CNNM2 LMAN2L IL1RAPL1 GTF2E2 ALG13 CENPJ GRIN2B KCNQ5 CAMK2A PPP2R5D AIMP1 TBCD ZNF41 KIRREL3 COQ8A PTCHD1 TSPAN7 ST3GAL3 RAB39B RDH11 RNU4ATAC NSD1 SLC9A7 EEF1A2 FRMPD4 HMGCL TRAPPC9 TOR1A USP27X ARX SET RSRC1 CXorf56 PIGO CIC WARS2 TECR CUX1 CHAMP1 FTSJ1 HCFC1 MT-TE PIGC FAT4 CWF19L1 HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION IDUA QDPR MCOLN1 ARSA NDUFA6 ERCC6 NHLRC1 UCP2 ERCC8 SYNJ1 SUMF1 TIMMDC1 SDHD VCP TINF2 KCNJ11 GALC SDHAF1 PSAP PMPCA ALDH18A1 HNF1A ITM2B LMNB1 HIBCH SDHA RAB27A HNF4A CTNS EPM2A GLB1 HEXB GRN PTS BSCL2 ABCC8 GCH1 TREX1 HSD17B10 SDHB PDGFRB NAGLU HEPACAM GBA CNTNAP2 KCTD7 RRM2B HP_ACTION_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACTION_TREMOR ATP6AP2 ATXN10 ABHD12 PPP2R2B CCDC88C RNF113A ERCC6 TMEM240 MFN2 QRICH1 PPP1R15B MAG TMEM70 NIPA1 CARS2 TUBB4A ALDH18A1 ATCAY REEP2 POLR3A HIBCH MT-ND5 GABRG2 PIK3CA FUS AKT1 MAOA PLP1 GTF2E2 NKX6-2 IFRD1 TGM6 MT-ND2 THG1L AFG3L2 VPS13A SLC6A17 MT-ND6 SCP2 PRICKLE1 ABCB7 ANO10 PNPLA6 PIK3CD FXN PCDH19 GSS NOTCH2NLC GCH1 PRKRA SNCA NGLY1 KCNJ10 FAM126A SCARB2 ITPR1 FBXO7 TH MT-ND4L UFC1 VAPB SACS TMEM63A PMP22 BRAT1 ATXN1 MT-ND4 OPHN1 MT-ATP6 MPLKIP FLVCR1 TPP1 POLR3B COL6A3 PSAP SIGMAR1 NFASC SCN2A MT-CO3 SPTBN2 SCYL1 ATXN2 ATP13A2 CAMTA1 ATN1 NOP56 RNU12 VLDLR MYBPC1 GJC2 LAMA1 MT-ND1 KIF1C EIF2AK2 ARSA EPRS1 ERCC3 CACNA1A MT-CYB MPZ BSCL2 KCNC3 RFC1 ALS2 VWA3B SLC30A10 STUB1 CTDP1 POLG PEX10 NDUFS2 CACNA1G NKX2-1 TMEM106B SCN1A ACBD5 UROC1 KCND3 ERCC2 SCN1B FMR1 TARS1 RARS1 NONO GTF2H5 TK2 ATP2B3 UCHL1 DRD3 ERCC8 PTEN PLA2G6 XPNPEP3 TBP PARK7 SPG11 OPA3 PIK3R5 GALT FGF14 GJB1 STXBP1 DNAJC19 MT-CO1 COQ2 SLC9A1 TENM4 GABRA1 ANO3 ELOVL4 ITM2B JPH3 CSTB KNSTRN SEMA6B SETX FARS2 MRE11 CWF19L1 SCN9A HP_HEAD_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TREMOR ANO3 LAMA1 FGF14 PLP1 EIF2AK2 MTM1 UCHL1 PPP2R2B ITPR1 GBA2 NOTCH2NLC SIGMAR1 NKX6-2 SETX IFRD1 CACNA1G CIZ1 GJC2 AFG3L2 VPS13A SLC52A2 HIBCH ALS2 SCP2 SPG11 TMEM63A NOP56 STUB1 KIF1C PIK3R5 PEX6 DNMT1 FUS HP_FOCAL_AWARE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_AWARE_SEIZURE TBK1 UNC93B1 FRRS1L TICAM1 SCN1A STXBP1 PCDH19 TLR3 GRIN2A SCN1B GABRA1 MICAL1 SCN2A RELN LGI1 GABRG2 TRAF3 SCN9A HP_CEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CYST WDR35 FKTN FKRP SOX4 BUB1B DOK7 EVC C2CD3 LONP1 MKS1 AP1S2 ARID2 CEP120 FGFR1 ZIC1 BCOR NPHP3 DAG1 USP9X DOCK6 PIGN RPGRIP1 CCDC22 ARID1B TUBB ASXL1 TSEN15 LARGE1 RXYLT1 CEP55 BUB1 PIEZO2 TBC1D24 SEPSECS WDR81 HYLS1 DHCR7 ARMC9 POMT1 POMT2 KIAA0586 NRAS KIF7 SEMA3E AHDC1 VPS51 CRPPA B3GALNT2 GPC3 B9D1 PHGDH TMEM107 DPH1 DENND5A SNX14 WASHC5 SMARCE1 TSEN2 DYNC2H1 ATP6V0A2 CEP290 CPT2 SMARCA4 POMK DYNC2I2 LAMA1 TSEN54 OPHN1 NUP88 MYOD1 GRIA3 FTO CDKN1C EBP POMGNT1 MAB21L1 NID1 TMEM216 TMEM67 DPF2 PMM2 TMEM231 GRM1 POLR3A SMG9 WDR73 COL4A1 OFD1 GPC4 COL3A1 GMPPB CC2D2A SOX11 BUB3 TCTN2 IGF2 SUFU PDHA1 SMARCD1 B4GAT1 EXOSC3 TMEM138 B9D2 GLI3 CEP57 PPP1CB B4GALT1 DYNC2I1 EVC2 FAR1 ZSWIM6 RAPSN ATP6V1A TMEM237 CDC42 CHD7 SLC35A2 WDPCP PLG TSEN34 RPGRIP1L CSPP1 HRAS ARID1A MUSK RNF113A SLC18A3 FLVCR2 IFT80 TRIP13 KCNQ1 KCNQ1OT1 KRAS SMARCC2 ATP6V1E1 POMGNT2 KLHL7 SMARCB1 PSAT1 HP_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOENCEPHALOPATHY NDUFA11 SPG11 TET3 NDUFS4 DNM1L EIF2B1 RNF113A AP4M1 LONP1 LYRM7 SHANK3 TMEM70 TIMMDC1 NDUFV1 AP5Z1 ABCD1 PSAP NDUFS6 CTC1 MMACHC NDUFAF2 EOGT NAXE GMPPB HIBCH MBD5 NOTCH1 ZMYND11 MRPS22 SUMF1 FARSA CPLX1 NUBPL RBPJ GTF2E2 TAOK1 ISCA2 ALDH18A1 PMPCB NSD2 HTRA1 PC MYT1L CSNK2B AP4B1 AP4E1 TSEN54 NDUFB10 CACNG2 MT-ND2 TBCK MTHFR CYP27A1 ASH1L RPIA SCP2 MT-ND1 SEPSECS COLGALT1 TYMP CAMK2B BRF1 DEAF1 LIPT2 DDHD2 ARSA NRROS COL4A1 BRSK2 LMX1B MEF2C RFWD3 CSF1R ARHGAP31 EIF2B2 SON MT-TN LAMA1 SSR4 HIKESHI TREX1 NDUFA1 PLAA EIF2B3 MT-ND3 NDUFAF5 MPLKIP CNP NDUFAF3 EPB41L1 NDUFS3 NOTCH2NLC CLN6 CDH15 POLG NDUFB11 VPS11 FA2H NDUFB3 NOTCH3 YME1L1 ODC1 NDUFA6 KIF1A DOCK8 SYNGAP1 GALC NDUFV2 MARS2 RAB11A MED12L STXBP1 GJC2 DPM3 KDM5B DLL4 PDHB RAC1 USP7 NDUFAF1 ERCC3 TYROBP SURF1 EARS2 AMPD2 CLTC FOXRED1 DARS2 EIF2B4 LETM1 GM2A POMT1 DARS1 ATP13A2 TMEM126B HIVEP2 LARGE1 AUH PPP3CA DYNC1H1 ARID2 NDUFS1 TRPM3 NDUFS8 CLCN2 PDHA1 EIF2B5 AP4S1 SAMHD1 L2HGDH TRMT1 DEGS1 CLCN4 ERCC2 AIFM1 TARS1 GRIN2B GTF2H5 KCNQ5 AARS2 GRIN1 NDUFB9 MLC1 CAMK2A POMT2 KIRREL3 NDUFAF4 PDHX CDC42 CTBP1 NDUFS7 PRNP FGFRL1 DOCK6 ACP5 EEF1A2 HMGCL LMNB1 DPM2 RRM2B SET RNASET2 OPA1 CIC B3GALNT2 PUF60 WARS2 SNORD118 OCRL LAMB1 HK1 SDHA NDUFAF8 CUX1 COA7 RTTN CHAMP1 HEPACAM KIF5A TREM2 TCF4 COA8 MORC2 NFE2L2 FKRP NDUFS2 HP_MEMORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMORY_IMPAIRMENT MAPT TRAF7 TERT ABCA7 HLA-DQB1 APOE ARSA EIF2B1 ECM1 TWNK TYROBP SMARCE1 PDGFRB MOG ALDH18A1 TGFBR2 PMS2 TREM2 SLC2A3 KRAS VCP EIF2B4 ABCD1 MMACHC SIM1 TNFSF4 REEP2 GRN MT-ND1 CCR1 NF1 MT-TF TOMM40 STUB1 STAT4 DNMT1 JPH3 SPG7 FAN1 IL23R C9orf72 IL10 MT-CO3 FAS ZNF365 PRKAR1B PDGFB TREX1 GSN TMEM106B MT-TQ EIF2B5 PAH SLC25A13 XPR1 MT-CO1 SPAST MSH6 SUFU PSEN1 AFG3L2 BAP1 MEN1 MT-TS2 MLH1 FMR1 MYORG SLC20A2 SMARCB1 PRKCG EPCAM PSEN2 HTT MLH3 CHMP2B SQSTM1 MT-ND5 ATXN3 ADA2 PIK3CA ERAP1 TLR4 NF2 FGF14 PMS1 PRNP CSF1R EIF2B2 MT-ND6 UBAC2 APP EIF2B3 MYD88 P2RY11 MEFV ATXN1 VAMP1 HLA-B AKT1 HCRT KLRC4 MT-TW HMBS UGT1A1 RPS20 MT-TL1 IL12A PSAP CTSH MT-TH ACSF3 RNASEH1 MT-ND4 NOTCH3 SORL1 POLG IL12A-AS1 RRM2B C4A SEMA4A BMPR1A CAMTA1 MSH2 ATN1 HLA-DRB1 MT-CO2 GNE CP SMO HP_DIFFICULTY_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_WALKING RNASEH2B ARV1 TRAK1 WDR48 ERLIN1 ERCC4 AP4M1 NTRK2 ERCC6 SMARCE1 FTL GABRG2 ALG2 GYG1 VCP SLC1A2 MTMR14 SAMHD1 USP9X ABCD1 TTBK2 CYP27B1 TPM3 GABRB2 MARCHF6 CRYAB FUS NECAP1 TIA1 CYP2R1 NUBPL PLP1 DLAT CPT1C KCND3 SORD SZT2 FLRT1 SCN8A NEB B4GALNT1 POMT2 POMT1 TGM6 AP4E1 ORAI1 MYH7 MATN3 STXBP1 MYF6 MSTO1 DARS2 RYR1 DES DMD ARSI SYT2 SLC30A9 BAP1 SURF1 SMARCB1 FBXO38 DNM1 FDX2 CRPPA ADAR NDUFS8 CDKL5 GFPT1 CLTC GABRA2 PRX ADCY5 MYOT TK2 GALC TRAPPC11 PDGFB KCNJ10 BSCL2 GRID2 ATP13A2 SNAP25 HCN1 CDK19 NKX2-1 SYNGAP1 PYCR2 MT-ATP6 SACS ATP6V1A GLE1 SLC5A7 ERCC1 ABHD5 STRADA HSPB3 AKT1 COASY MORC2 GPAA1 DNM2 CHAT FKRP SCN3A PSAP SIGMAR1 FOXG1 C12orf65 PGAP1 KCNA2 CAPN3 TTN AGRN FA2H WARS1 CACNA1A KLHL9 BIN1 RNASEH2C NTRK1 DDHD1 GOSR2 SH3TC2 YWHAG NOP56 NACC1 ACTA1 IFIH1 SLC18A3 RAB11B RNU12 SMO SBF2 VAMP1 TRAF7 TERT INTS1 ARSA KLHL41 SPART ARL6IP1 RSPRY1 SLC25A1 EIF2S3 ASAH1 FGF12 IBA57 SLC2A3 GMPPB SQSTM1 GBA2 REEP1 COL13A1 PDK3 PMP2 KCNB1 GPT2 PLEKHG5 CDK8 KCNC3 ALS2 SLC30A10 STUB1 GJB1 MED25 DDX6 DAG1 AARS1 ACOX1 RTN2 DALRD3 ANO5 GRIN2D ALG14 MIEF2 TREX1 GAN PPP3CA HK1 AP4S1 HERC1 KBTBD13 AP3B2 GJC2 SUFU TPP1 BICD2 DNA2 AP4B1 SLC34A3 TCAP KY DYSF RARS1 CHCHD10 DNM1L WASHC5 SYNJ1 HTT MATR3 SETX NUS1 SPG21 SLC13A5 DPAGT1 SLC25A19 LRP12 NF2 RNASEH2A HACE1 ERCC8 FGF14 ATRX C19orf12 PNPLA2 CIZ1 HPCA SGCB FHL1 CYFIP2 WWOX TAF1 SLC52A2 UBA5 PUS3 CACNA1B SPG11 KLC2 TBC1D23 FKTN CNKSR2 VDR MYO9A GABRA5 WARS2 MYPN EEF1A2 CAPN1 SGCD MICU1 FLNC PARS2 HSPB1 TPM2 BVES ATP7B ACTL6B LRP4 CCN6 MFN2 PIK3CA ELOVL5 DHTKD1 MECP2 NKX6-2 PEX6 DHDDS HP_WRITER_S_CRAMP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRITER_S_CRAMP TBC1D24 THAP1 CASR SGCE GCH1 KCTD17 COL6A3 TBP TOR1A PRRT2 HINT1 FTL CIZ1 GNA11 DRD2 KCNA1 HP_DYSPHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHASIA PSEN1 CHMP2B SQSTM1 AMER1 VCP TCF4 ATP1A2 TBX1 COX7B COL1A2 STS POLR1C PLEC MAPT GP1BB CFH CACNA1A GRN ARVCF ATRX NDUFB11 TREM2 C9orf72 NSDHL RAI1 CFHR1 COMT UFD1 FGFR1 EHMT1 KRAS TMEM106B TCOF1 OCRL SEC24C FLCN ACTG1 SCN1A SMARCA2 CKAP2L RREB1 POLR1D ACTB L2HGDH PRRT2 HCCS GRIN2A COL1A1 HIRA JMJD1C UBTF CFHR3 DNM1L ADAMTS2 HP_FREQUENT_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FREQUENT_FALLS SCYL1 MAPT KIF1C ATP6AP2 GPHN ARSA FKRP ASAH1 MFN2 GRM1 MTPAP TPM3 SDHD ALG2 GMPPB VCP ATL1 PMP2 VPS35 PIK3R5 PDE10A DNAJC13 RRM2B PYROXD1 TPM2 MT-ATP6 COL6A3 TWNK DAB1 COL12A1 ALG14 SLC25A1 GLRA1 B4GALNT1 POMT1 PANK2 SGCG MYPN NEFH SNCA VPS13D COLQ PSAP COX20 CRPPA POLG GFPT1 PLEC ADAR ATP2B3 DPAGT1 ARG1 FHL1 ARHGEF2 GALC COL6A2 BSCL2 MRE11 FA2H LAMB2 SDHAF1 HADHB TAF1 FIG4 SDHA PRNP COL6A1 HINT1 FKTN CHP1 POLG2 NUP62 ADSS1 STIM1 GJB1 DYNC1H1 C19orf12 GIGYF2 COQ2 EIF4G1 SGCA GDAP2 SCO2 TTN NOL3 HADHA SDHB NEB LRRK2 ACTA1 MT-TE GBA RNU12 SLC25A4 CWF19L1 HP_SLEEP_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_DISTURBANCE DCPS IQSEC1 CLIP2 NODAL VPS13C HTT ATXN10 TPO AGA UCHL1 PRMT7 SMARCE1 FGFR3 SHANK3 MOG SLC9A6 PRPS1 SEPTIN9 ATXN7 C12orf4 DISP1 KCNA1 HDC GRIN1 GLRB EPM2A MAPT TSEN15 HIBCH MLXIPL SLC35C1 SIX3 ARCN1 PIGQ IDS ZMYND11 NTNG1 DNMT1 SIK1 MAGEL2 FBXW11 PINK1 HDAC8 CTNNB1 SNRPN SEPSECS TAOK1 ATXN2 RIC1 SPART HCRT GTF2I DHCR7 MYT1L GSN FXR1 LHX4 GNAI3 ADH1C FRRS1L ACTL6A MECP2 SLC25A13 NDN ANK3 VPS13A ASH1L SYT2 EP300 NACC1 MEN1 SPR CRADD PHKA2 SMC1A POU3F3 SMARCB1 PSEN2 ABCB4 SHH TELO2 DCTN1 EPG5 TBL2 DEAF1 DOCK3 TSPYL1 WASHC4 TWNK TRPV4 SLC45A1 GLRA1 SLC25A22 NGLY1 BRSK2 POU2AF1 SNAP25 NKX2-1 HERC2 CREBBP CARS1 SLITRK1 PHKG2 CDON PWAR1 TRIO HRAS SGSH FBXO31 C2CD3 SLC18A2 LIMK1 P2RY11 PTCH1 CNTNAP2 GRIK2 DLL1 SARS1 AKT1 NUP88 GRIA3 GAS1 ATXN3 SCN1B TCF20 CHAT FOXG1 CCDC47 POMT1 CORIN CTSH AIFM1 CDH15 PER3 AGRN TANC2 NFIX TSHR ATAD3A KIF1A GPR101 NPAP1 LRRK2 CERT1 DOCK8 RET CDKL5 ZC3H14 PRNP DMPK GBA MBD5 FLT1 HLA-DRB1 SMC3 SLC5A5 SNORD116-1 ZIC2 SLC18A3 RAB11A MED12L DPH1 STXBP1 NSUN2 STAG2 NKX2-5 LARP7 HMGCL KDM5B VAMP1 TDGF1 TRAF7 HLA-DQB1 PLCB4 USP7 CISD2 AIP FGFR1 FGFR2 NR4A2 TGIF1 SLC2A3 PROKR2 CLTC SPIB COL13A1 KMT2E TSC2 MKRN3 SETD1A MTRR SNORD115-1 TNFSF4 MMEL1 WDR73 EHMT1 HIVEP2 MED25 PER2 PPP3CA DYNC1H1 NAA10 USP8 TRPM3 PTS SYNGAP1 FLCN BSCL2 PGAP1 NTNG2 ZNF365 ZEB2 DNAJC6 MAN1B1 ABCB11 SCN2A CTCF TRAF3 EDC3 FGF8 SUFU UBE3A DMXL2 TLR3 DNA2 TFAP2B SLC6A5 IL12RB1 LMAN2L ATAD1 TRHR NONO GNPTAB GNAO1 GRIN2B RUNX2 KCNQ5 TICAM1 CAMK2A SOX3 IDUA FBP1 KIRREL3 PPT1 NF2 OCA2 ST3GAL3 HESX1 GABBR2 TAF1 EEF1A2 LAMB2 FOXE1 LHX3 PAX8 PSMD12 STOX1 SET MUSK RSRC1 GLI2 ELN CIC IRF5 TNPO3 SLC12A3 SPOP COQ2 TECR CSNK1D BRAF HNRNPK WAC PRKN LRRC32 SNCAIP LTBP3 WDFY3 RAD21 PIGC GJB1 KIF11 COA8 GNE UNC93B1 PGAP3 RPS6KA3 TCF4 CPOX MFSD8 DOK7 NDST1 ERCC4 MFN2 MBOAT7 NR1H4 ALMS1 VPS35 ASXL3 CLIP1 DNAJC13 FLII KIF15 DDC ERCC6 TRMT1 ACTL6B GLUD2 RAI1 SOD1 NALCN POLR2A TG MED23 DUOX2 TDP2 MED13 LIAS GTF2IRD1 CRBN POGZ CNOT1 CSNK2B POMT2 CACNG2 RFC2 SETD5 SNCA GRIN2A PRSS12 DPYS BAP1 AHDC1 VPS51 SLC2A1 SYNJ1 PNKP CAMK2B TSHB FMN2 NRXN1 CRY1 DDX6 SRPX2 PRPH UNC80 ATN1 GCH1 PDGFB TSEN2 TBK1 CLCNKB SIM1 SMARCC2 DKK1 FBXO7 NAGS TSEN54 SLC5A7 EML1 BMP2 TTI2 DUOXA2 TNFSF15 OTX2 METTL23 MYOD1 EIF4G1 DHX30 EPB41L1 POU1F1 IQSEC2 NEUROD2 EDN1 SLC22A5 SATB2 COL3A1 NAGLU TUBB3 FOXH1 ZMIZ1 PROP1 SMO ACAT1 IL12A FKTN TERT APOE SLC25A1 ASCL1 PYGL PIGT TWIST1 CC2D1A PODXL SIN3A NDP GPHN NSDHL PIGP ARNT2 HNMT IYD NF1 SARDH SLC26A4 TRIM8 NADK2 ATP10A P4HTM TBC1D24 DBH B3GALNT2 SVBP SKI NHLRC1 SH3BP2 TUSC3 HTRA2 NIPBL TNIK EZR KMT2A COLQ LINS1 RERE CEP57 WDR4 LARGE1 ASPA RAPSN GNS PCGF2 AIMP1 CHD8 RLIM PHOX2B GALNT2 GABRG2 TBP BPTF SHROOM4 PWRN1 KAT6A CDH23 ATXN8OS FTL TSC1 HDAC4 TRAPPC9 ADNP CASK DYRK1A SYT1 TSEN34 AFF4 BCORL1 BAZ1B MYO9A ATP8B1 WDR45 ARX GIGYF2 PUF60 HMBS HGSNAT WFS1 CUX1 ERCC8 RTTN CHAMP1 SOX2 PIK3CA NEFH PARK7 FKRP GATAD2B TRAPPC4 FARS2 HP_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_DETERIORATION RNASEH1 HEXA SMC1A KMT2A ATP6V1E1 ATP6V0A2 ATP6V1A RRM2B PSAP PPT1 GALC PLA2G6 PLP1 CLN3 GALK1 HP_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHUFFLING_GAIT KDM5C SLC18A2 TK2 NAA10 C19orf12 GIGYF2 DCTN1 POLG ATXN2 EIF4G1 L1CAM MAPT SGCD MECP2 DNAJC6 PRKAR1B PODXL TBP TIMM8A SNCA NR4A2 RAB39B ADH1C GBA CSF1R COL2A1 ATXN8OS SNCAIP VPS35 SYNJ1 FBXO7 DNAJC13 TAF1 ZMPSTE24 LRRK2 TRPV4 GLUD2 LMNA HP_ABNORMALITY_OF_BRAINSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BRAINSTEM_MORPHOLOGY NDUFA11 NDUFS4 NODAL DNM1L FKRP SURF1 SMPD4 ADGRG1 DLL1 SMARCE1 KIAA1109 PPP1R15B DOCK7 GMPPB DNAJC3 ZIC1 TIMMDC1 MYMK NDUFV1 TRMT10A CSPP1 DAG1 FCSK USP9X DISP1 ABCD1 NDUFS6 PTCH1 ZNHIT3 POMK TSEN15 TGIF1 SIX3 DNMT1 PDCD10 PIEZO2 SEPSECS POGZ ASXL1 TSEN54 POMT2 NDUFB10 KIAA0586 TRRAP MT-ND2 GABRB3 BAP1 VPS51 TGFBR3 MT-ND1 SMC1A SMARCB1 SCN1A CUX2 DYRK1A SHH KIF1A SPTAN1 BRF1 PMM2 EPG5 FGF8 GLI2 WNT1 PAFAH1B1 SNX14 TWNK CTNNA2 CEP55 GFM2 ARHGEF2 FOXH1 MYH3 FLI1 PDGFB TSEN2 NDUFAF2 INPP5E APC2 DYNC1I2 TMEM216 DYNC1H1 CLP1 STAG2 DKK1 COL3A1 GTPBP3 PYCR2 SACS SYNE1 TRAPPC12 CDON NDUFA1 TMEM67 RELN TUBB2B MT-ND3 ATXN1 NDUFAF5 AKT1 CHD2 NDUFAF3 GAS1 POMT1 NDUFS3 C12orf65 UBE2A MAST1 NDUFS2 NDUFB11 FA2H NDUFB3 COASY RPGRIP1L NDUFA6 TUBA8 TUBB3 FGFR1 NDUFV2 NF2 POMGNT1 ZIC2 MAB21L1 SMO VLDLR FKTN LAMA1 KIFBP TDGF1 PPP2CA TRAF7 PDHB TERT RAC1 NDUFAF1 TBP LAMB1 KRIT1 NPHP1 NFIX PIGA CHMP1A FOXRED1 COG5 CRPPA GPHN TBCD MTRR TUBA1A WDR73 STUB1 TMEM126B LARGE1 NDE1 NDUFS1 NDUFS8 TMTC3 TOE1 VRK1 AHCY SLC5A6 CACNA1G B4GAT1 ANGPTL6 ETHE1 SUFU DEGS1 ROBO3 NUBPL RERE TUBB2A FMR1 AIFM1 AHI1 ATXN8OS NDUFB9 MAPK10 FH MFSD2A NDUFAF4 PDHX NDUFS7 SLC35A2 NDUFB8 MACF1 GALC RARS2 TUBB ENG FGFR3 ASNS TNFRSF11A RANBP2 MDH1 TSEN34 THSD1 FARS2 OPA1 PPP2R1A SLC19A3 FLVCR2 B3GALNT2 DNAJC19 TMX2 WARS2 EXOC7 CIT DNM1 LAMA2 NDUFAF8 RTTN CCM2 COG8 ATXN2 CEP290 PIK3CA NAGA PCLO TRAPPC6B SCO2 HP_HYPOPLASIA_OF_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_BRAINSTEM VLDLR POMT2 FKTN KIFBP BRF1 PPP2CA PDHB FKRP RAC1 ADGRG1 SMPD4 PAFAH1B1 CTNNA2 FH MFSD2A CEP55 LAMB1 KIAA1109 PPP1R15B MYH3 TUBB3 NFIX POMGNT1 TSEN2 INPP5E CHMP1A MYMK APC2 DYNC1I2 TMEM216 TRMT10A CSPP1 FCSK MACF1 USP9X DYNC1H1 CRPPA TUBB POMK MTRR PYCR2 TSEN15 TUBA1A DYRK1A TSEN34 WDR73 TSEN54 COL3A1 GMPPB PIEZO2 NDE1 FLVCR2 TMX2 SEPSECS TMTC3 WARS2 TOE1 EXOC7 POMT1 CIT ASXL1 TUBA8 MAST1 COASY RPGRIP1L B4GAT1 LARGE1 PCLO TUBB2A HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY TARDBP C19orf12 ALS2 SETX PSEN1 ATXN3 SQSTM1 TBK1 TRPM7 MAPT SIGMAR1 ASAH1 C9orf72 TREM2 CHMP2B CHCHD10 VCP DCTN1 PLEKHG5 MATR3 FUS GRN TMEM106B SPG11 HP_VISUAL_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_HALLUCINATIONS FIG4 ATP13A2 SNCA VPS35 FBXO7 GIGYF2 DNAJC13 LRRK2 EIF4G1 GBA NHLRC1 SNCB EPM2A PUS3 CLN6 CACNA1A DNAJC5 HP_POOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_COORDINATION SIM1 NSD1 SETD2 KCND3 SYNGAP1 APC2 SLC25A15 HUWE1 CCDC28B RNF168 EP300 HSD17B10 TXN2 SLC6A8 MTR ARL6 TCF20 YWHAG CREBBP ELN CARS1 MLXIPL TANGO2 TBC1D23 BBS1 KCNA1 EED ERCC4 HP_LOSS_OF_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SPEECH MAN2B1 RNASEH2B ADAR AARS2 CHMP2B SQSTM1 ARSA ERLIN2 PPT1 RNASEH2A GALC TPK1 GRN NAXD GABBR2 SAMHD1 PSAP MECP2 ALS2 GM2A SARDH TREM2 NTNG1 NPC2 CDKL5 VCP BSCL2 IRF2BPL SPG7 HGSNAT ALDH18A1 TREX1 TMEM106B ABCD1 C9orf72 STXBP1 MAPT RNASEH2C NPC1 PSEN1 SLC30A9 IFIH1 HP_NORMAL_INTERICTAL_EEG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMAL_INTERICTAL_EEG KCNQ2 SCN8A PRRT2 SCN2A KCNQ3 HP_DIMINISHED_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOVEMENT HTT TMEM240 POLG SLC52A2 RAPSN MAPT GPHN DOK7 KLHL41 CHRNA1 PET117 DNAJC6 SLC6A3 PODXL GFM1 FGF14 SLC2A3 KLHL40 AIFM1 NEB VPS35 DNAJC13 TH TPM2 LAMP2 CHRND RRM2B ATP13A2 TOR1A PRNP WWOX ACTA1 LMOD3 PANK2 MUSK POLG2 VPS13C TWNK MRPS16 SLC18A3 FLVCR2 MTM1 GIGYF2 NUP88 MYOD1 GLRA1 TPM3 EIF4G1 PDE8B CHRNG ALG11 ERBB3 CFL2 FXR1 LAMA2 PPP2R2B SNCA SYNJ1 LRRK2 PAM16 GBA CNTN1 DPM2 MPZ CP SLC25A4 HP_HYPOKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKINESIA HTT POLG SLC52A2 RAPSN GPHN DOK7 KLHL41 PET117 SLC6A3 GFM1 SLC2A3 KLHL40 AIFM1 NEB TH TPM2 LAMP2 RRM2B ATP13A2 PRNP WWOX ACTA1 LMOD3 MUSK POLG2 TWNK MRPS16 SLC18A3 MTM1 NUP88 MYOD1 GLRA1 TPM3 PDE8B ALG11 CFL2 LAMA2 PPP2R2B SNCA PAM16 GBA DPM2 MPZ SLC25A4 HP_DEVELOPMENTAL_REGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_REGRESSION RNASEH2B CLIP2 ARV1 TUFM IFIH1 TRAK1 HTT ACER3 GNB1 FDXR GABRG2 LYRM7 PMS2 TTPA ACOX1 SLC1A2 NDUFS7 KRAS SAMHD1 KCNA1 XPC DDB2 GRIN1 HNRNPH2 MMACHC PIGQ STAT4 NTNG1 ARHGEF9 NECAP1 SIK1 IL23R NEU1 GTF2I PMPCB SCN8A TNFRSF11A CIC NTRK2 MSH6 NACC1 MT-TV AGA EPCAM MLH3 PCYT2 FRRS1L PDSS2 CHD2 TBL2 GABRA2 PLCB1 PCDH19 MT-ND1 PET117 ADPRS ARSA GALC SLC25A22 NGLY1 TBC1D24 DEAF1 EIF2B2 AIFM1 SDHAF1 TMLHE UBAC2 SCN1A PYCR2 WDR45 SDHA FITM2 NUP62 PEX19 EIF2B3 LIMK1 CDKL5 CLPB CYP27A1 PEX1 IRF2BPL GRIN2A SCN1B SLC39A14 SCN3A IL12A FOXG1 CLN8 C12orf65 TBCE NDUFS2 KCNA2 HSD17B10 CACNA1A IQSEC2 GABRD TANC2 NARS2 FGF12 RNASEH2C ASPA C4A HPDL UBTF MT-TK YWHAG PEX2 PTCD3 GMPPA EPRS1 CISD2 TRAPPC11 PEX7 NAXD DNMT3A KCNB1 MECP2 RHOBTB2 PEX11B CCR1 POLG FOLR1 STXBP1 NDUFAF3 AARS1 TYROBP SERAC1 GRIN2D SYNGAP1 NTNG2 GLA MT-ND2 TREM2 AHCY SCN2A ETHE1 L2HGDH DMXL2 PSAP DNM1L SYNJ1 ST3GAL5 GNAO1 NUS1 AAAS MT-TW ERAP1 TPP1 GABRB1 KCNT1 PIGY TCIRG1 COQ8A CLN5 ROGDI ADGRV1 ATP7A GABBR2 SLC9A6 NDUFB8 CNPY3 UBA5 PEX6 MT-ND5 CNKSR2 SPTAN1 MEFV ELN GLRX5 HLA-B GABRA5 CTNNB1 GABRA1 TBCK ERCC4 SDHB ACTL6B SLC29A3 COG8 PIGT UGP2 NAGA BMPR1A DNM1 SEMA6B COA8 SELENOI POC1A SCN9A MT-ND4 NDUFS4 SURF1 EIF2B1 PHACTR1 COX4I1 SUMF1 GCDH CARS2 HCN1 NAXE MT-ATP6 GABRB2 SGPL1 PAFAH1B1 CACNA1B PEX5 FAN1 MRPS34 HIBCH HACE1 IL10 FAS GTF2IRD1 SZT2 NDUFV2 COQ2 ATP5MD GRIN2B RFC2 GFM2 PEX13 SLC30A9 GUF1 PNKP PPP3CA ASAH1 ADAR CLTC ADA2 STX1B TK2 PEX10 PIGA ERLIN2 CDK19 SON NDUFAF6 AGTPBP1 TRAPPC12 ATP6V1A ISCA1 XPA SLC25A42 MT-ND6 BOLA3 MT-TL1 BSCL2 CNP MBTPS2 NEUROD2 KCNT2 IL12A-AS1 IRX5 PLA2G6 MSH2 VAC14 COASY KCTD7 PEX14 GFAP NRXN1 ERCC3 EARS2 SDHD TGFBR2 SIN3A NDP EIF2B4 TBCD PIGP GM2A IDS TRIM8 ERCC5 DALRD3 PEX26 ARX SLC6A1 TREX1 EIF2B5 PEX3 AP3B2 MLH1 NDUFS1 MFF WASF1 NUP214 NDUFV1 PEX12 PIK3CA SLC13A5 PEX16 TLR4 PLP1 ERCC2 RNASEH2A TRAPPC2L ZBTB20 PMS1 AP2M1 CYFIP2 IBA57 WWOX RANBP2 ADNP CASK POLR3A BAZ1B DNAJC19 KLRC4 SLC12A5 RPS20 EEF1A2 WFS1 PARS2 CAD TANGO2 PHYH MT-ND3 SEMA4A FARS2 ST3GAL3 SCO2 DHDDS HP_HAND_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_TREMOR TFG MARS1 C19orf12 TSHR ADRA2B CTNND2 DRD3 MFN2 FGF14 SMN1 ANO3 RAB3GAP2 SLC6A17 ERLIN2 YEATS2 SMN2 ABCB6 PDK3 TAF1 GCK MARCHF6 TOR1A NOP56 STUB1 ZFYVE26 SAMD12 CNTN2 ZFR HP_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASCICULATIONS GLA KIF1C VCP SQSTM1 ANO10 SMN1 OPTN GPHN UBA1 TBCD GLRB FUS TREM2 SOD1 SPG11 AR HEXB TOE1 NOP56 SCN1A SLC52A3 TSPYL1 AIFM1 VRK1 TMEM106B FXR1 ATXN3 BICD2 C9orf72 EXOSC3 PFN1 PSEN1 DCTN1 VPS13D SLC6A5 HNRNPA1 ATAD1 FBXO38 CHCHD10 TARDBP SLC52A2 VAPB CHMP2B UCHL1 ADPRS PRPH GLRA1 CACNA1A TBK1 GRN HSPB1 ASAH1 PNPLA2 PSAP AGTPBP1 SYNE1 HINT1 SCN4A LRSAM1 ATP1A2 SLC25A21 ATXN1 TFG HNRNPA2B1 MORC2 CPLANE1 SCO2 ELOVL4 SMN2 RMND1 MAPT PRRT2 RYR1 KCNK9 ATXN2 NEFH CEP126 SH3TC2 EXOSC9 HP_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APHASIA TMEM106B MAPT VCP ABCA7 TCF4 PLEC TREM2 KMT2E MYT1L FA2H GRN MT-ND1 FGFR1 TRMT1 EHMT1 MT-TF ACTL6B TOMM40 GJB1 FBXW11 SVBP MED13 ACTG1 L1CAM MT-CO3 HLA-DQB1 TREX1 MT-TQ ACTL6A ACTB TANC2 MT-CO1 GRIN2A MT-TS2 PSEN1 HNRNPA1 FRRS1L MT-ND5 AMER1 ADA2 DOCK3 ATP1A2 DDX6 COX7B RLIM COL1A2 BPTF NDUFB11 C9orf72 CHMP2B MT-ND6 PSMD12 SLC16A2 KRAS PSEN2 APP BCORL1 HNRNPA2B1 MT-TW MT-TL1 NTNG1 TCF20 SMARCA2 CKAP2L MT-TH MT-ND4 NOTCH3 SORL1 HCCS COL1A1 WDFY3 PRNP NF2 ZMIZ1 TRAPPC4 MT-CO2 ADAMTS2 HP_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALITIS CIITA STAT1 PRF1 MEFV HLA-B ERAP1 LBR IRF3 TLR4 KLRC4 IL23R ATRX IL10 FAS IL12A BTK HYOU1 IKBKG SLC6A19 RFXANK L2HGDH RFXAP IL12A-AS1 TMEM70 SH2D1A UBAC2 C4A RFX5 CCR1 XIAP STAT4 BCL10 HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE FIG4 UNC93B1 KDM5B CLN8 ATXN10 FMN2 GNB1 SCN8A STRADA DOCK7 RELN CLTC KCNQ2 STX1B AP2M1 HCN1 EPM2A VPS35L MBD5 PAFAH1B1 HIVEP2 ZMYND11 GABRG2 ARHGEF9 PRRT2 PPP3CA DYNC1H1 TRPM3 CPA6 TBC1D24 TAOK1 NHLRC1 APC2 POGZ TGFB1 MYT1L CSNK2B VPS11 TRAF3 SCN2A GAL CACNG2 SCN1A PNPLA8 ASH1L TLR3 CLCN4 SCN1B CEP85L SCN9A DNM1L TSC1 GRIN2B CAMK2B FRRS1L KCNQ5 GRIN1 DEAF1 TICAM1 CAMK2A PCDH19 KIRREL3 BRSK2 ADGRV1 TBK1 CACNA1D NSD1 EEF1A2 CDH2 SET LGI1 CIC STXBP1 OPHN1 SETD2 GRIN2A EPB41L1 GABRA1 MTOR CDH15 CUX1 ACSF3 CHAMP1 GABRD GAMT TANGO2 KIF1A KCNQ3 DOCK8 SYNGAP1 CRIPT TSC2 TCF4 MICAL1 RAB11A MED12L HP_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPARESIS TARDBP RNASEH2B ADAR CCDC88C SQSTM1 MED13L PLP1 SPART MAG RNASEH2A ARG1 SLC25A15 GALC SPG21 MTPAP TBK1 SDHD C19orf12 CHCHD10 BCOR CPT1C TRMT10A SAMHD1 PPP1R15B BTD SDHAF1 GJA1 FA2H FUS TNFRSF11A ATP13A2 ADGRG1 SDHA VCP GOT2 SLC30A10 C9orf72 PRPS1 GJB1 SOX10 IDUA SELENOI WDR45 COASY SLC19A3 SP110 AIMP1 EDNRB SPG7 SRPX2 PEX16 TREX1 PNP C12orf65 ABCD1 TBCE PI4KA AFG3L2 NF1 TTC19 GJC2 MICOS13 SDHB RNASEH2C MTHFR CLTC GBA OPA3 ATP6AP2 POLG IFIH1 ASAH1 HP_CAVUM_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVUM_SEPTUM_PELLUCIDUM CPLX1 PPP2R5D PCGF2 NSD1 PACS1 SETD2 APC2 PIK3CA NSD2 CTBP1 LRRC32 NKX2-1 FGFRL1 MUSK SPECC1L LETM1 MAPK1 RNF125 PAFAH1B1 MED25 TUBB2B RBM8A HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES CLCN2 JRK EFHC1 MYO9A VAMP1 GABRA1 PIGW PIGL SETD1B PGAP3 CACNB4 SRPX2 CHAT SLC25A1 PI4KA GABRD PGAP2 AGRN CILK1 KCNQ3 SCARB2 PSAT1 SNAP25 COL13A1 AP2M1 PIGY CSTB SYT2 GABRG2 ADGRG1 PRICKLE1 SLC5A7 SLC18A3 PIGV PIGO HP_LOWER_LIMB_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERREFLEXIA ST3GAL5 KDM5C KIF1C SPG7 ARL6IP1 COX4I1 FTL GCH1 SDHD ALDH18A1 C19orf12 IBA57 GLUL NIPA1 ATP13A2 REEP1 KY ATL1 MKS1 DKK1 LBR SDHAF1 TH CYP2U1 SDHA PSEN1 TREX1 ZFYVE26 GJB1 SUMF1 SELENOI CAPN1 KIF1A HARS1 DLAT MSL3 AFG3L2 PDE8B C12orf65 IFRD1 UBE3A PGM3 SLC33A1 MECP2 LARGE1 USP8 SDHB TAF1 RUBCN HPDL OCA2 KIF5A MT-TE VCP SACS FARS2 NONO DPM1 HP_COGWHEEL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGWHEEL_RIGIDITY POLG TK2 ATP6AP2 STXBP1 ADAR KCND3 PCDH19 TMEM240 RAB39B GABRA1 SCN2A MME KCNA4 SCN1A RRM2B DAB1 CP MT-ATP6 SCN1B POLG2 NUP62 GABRG2 SLC25A4 TWNK SCN9A HP_STROKE_LIKE_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE_LIKE_EPISODE PMM2 MT-TF RFT1 MT-ND5 WFS1 MT-TW MT-CO3 MT-TC MT-TS2 MT-TL1 MT-CYB MT-CO2 MT-TQ DPM3 MT-ND1 MT-TH TTR PRNP MT-ND4 MT-CO1 MT-ND6 MT-TK STIM1 MT-TV HP_POSITIVE_ROMBERG_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIVE_ROMBERG_SIGN POLG TBP PIK3CD FLVCR1 MTTP KNSTRN XRCC1 TWNK RNF170 RFC1 POLR3A PLD3 OPA3 MFN2 HP_LIMB_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSMETRIA RNASEH1 POLG PPP2R2B RRM2B KCNC3 GRM1 DAB1 GBA2 NF1 PDGFB SLC20A2 PDGFRB CYP7B1 WASHC5 HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION SMAD4 ACVRL1 RASA1 ENG IL6 KRAS HP_AQUEDUCTAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AQUEDUCTAL_STENOSIS TPRKB TP53RK NUP133 FGFR2 WDR4 WDR73 SLC12A6 LAGE3 OSGEP SEMA3E NF1 SF3B4 L1CAM NUP107 CHD7 FGFR1 FANCB HP_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOKYMIA ABCD1 TBCK MORC2 UCHL1 PPP2R2B ADCY5 CACNA1G ATP13A2 HINT1 GSN KCNQ2 SOD1 PRKCG KCNA1 SPTBN2 PNKD HP_LEUKODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKODYSTROPHY RNASEH2B NDUFA11 NDUFS4 HSPD1 NDUFA4 TUFM COX6B1 SURF1 NDUFA13 ACER3 ARSA NDUFAF1 EPRS1 NADK2 GLRX5 TIMMDC1 ACOX1 ECHS1 NDUFV1 FOXRED1 DAG1 SAMHD1 NDUFS6 CTC1 POLR3A NDUFA10 TMEM126B SOX10 NDUFAF3 PYCR2 NUBPL NDUFS1 NDUFS3 SP110 NDUFS8 ISCA2 PET100 LIAS MTFMT TREX1 NDUFAF6 NKX6-2 PC ABAT POLR1C PNPT1 NDUFB10 TACO1 FBXL4 TMEM106B GJC2 MT-ND2 NDUFA12 DARS2 POLR3B SLC16A2 MT-ND1 PDHA1 PSAP COX15 ADAR NDUFV2 NDUFB9 NDUFS7 NDUFAF4 RNASEH2A FAM126A SLC19A3 NDUFAF2 NDUFB8 PLEKHG2 IBA57 GTPBP3 PEX1 LMNB1 TMEM63A NDUFS2 HIKESHI SDHA ISCA1 NDUFA1 PLP1 TUBB4A MT-ND3 NDUFAF5 BOLA3 AIMP1 EDNRB SNORD118 PEX16 NDUFAF8 RARS1 NDUFB11 FA2H NDUFB3 AIMP2 LIPT1 RNASEH2C NDUFA6 NDUFA9 NDUFA2 IFIH1 SCO2 HP_SUBEPENDYMAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBEPENDYMAL_CYSTS TXN2 PDHX D2HGDH PEX1 TUBGCP2 GLUL HP_ABNORMALITY_OF_MIDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MIDBRAIN_MORPHOLOGY INPP5E ARL13B C2CD3 DLL1 LRRK2 FTL KIAA0586 NPHP1 PDE6D CEP120 NR4A2 TMEM231 GBA RPGRIP1L TMEM216 CEP104 MKS1 PTCH1 B9D2 MAPT DISP1 GLUD2 NODAL OFD1 KIF7 TMEM107 TGIF1 ATXN2 FAM149B1 ARMC9 ADH1C TMEM67 TMEM138 CC2D2A CPLANE1 SIX3 TDGF1 TCTN1 GAS1 GLI2 AHI1 BRF1 ATXN3 FGF8 ZNF423 KIAA0753 TBP FOXH1 GCH1 SNCA SLC35A2 ATXN8OS CEP290 GALC TMEM237 FBXO7 TCTN3 CSPP1 CDON WDR45 CEP41 C19orf12 TBCE PIBF1 SLC44A1 SNCAIP ZIC2 SHH SUFU PRKN B9D1 HP_MOLAR_TOOTH_SIGN_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLAR_TOOTH_SIGN_ON_MRI INPP5E TMEM231 CC2D2A NPHP1 ARL13B ZNF423 KIAA0753 C2CD3 TMEM138 CEP120 KIAA0586 PDE6D KIF7 RPGRIP1L TMEM216 CEP104 MKS1 CEP290 TMEM237 B9D2 TCTN3 TMEM67 CSPP1 OFD1 AHI1 CEP41 TMEM107 FAM149B1 ARMC9 PIBF1 CPLANE1 SUFU TCTN1 B9D1 HP_POOR_HEAD_CONTROL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_HEAD_CONTROL NDUFA11 NDUFS4 ARV1 CACNA1G TRAK1 NTRK2 COX4I1 GABRG2 TPM3 ALG2 TIMMDC1 SLC1A2 NDUFV1 DAG1 SELENON KCNA1 NDUFS6 NDUFA13 AP3D1 TPM2 POMK PHACTR1 GABRB2 PIGQ PAFAH1B1 NECAP1 SIK1 PLP1 ALG13 MEGF10 SZT2 PMPCB SCN8A NDUFB10 DHFR STXBP1 GM2A MYPN MT-ND2 SYT2 MRPS25 PTS PIGP MT-ND1 PNKP NDUFA10 CDKL5 GFPT1 CLTC GABRA2 TRIP4 GFM2 SLC25A22 NGLY1 GABBR2 NDUFAF2 INPP5E SNAP25 HCN1 CDK19 CLP1 SNAP29 SDHAF1 UFC1 SYNGAP1 SDHA PET100 TMEM63A ATP6V1A NDUFA1 SLC5A7 ELP2 MT-ND3 SLC18A2 ASPA NDUFAF5 BOLA3 NDUFAF3 SCN1B CHAT SCN3A NDUFS3 NEUROD2 KCNA2 NDUFB11 AGRN NDUFB3 CACNA1A SUCLG1 NDUFA6 GALC NDUFV2 YWHAG NACC1 SLC18A3 TTN TREX1 VAMP1 GRIN2A PIEZO2 GMPPB NDUFAF1 SLC25A1 GNAO1 FGF12 SDHD HSD17B10 FOXRED1 COL13A1 KCNB1 GPHN ACTA1 PSAP TRIM8 TMEM126B SLC39A8 PNPT1 AARS1 MDH2 DALRD3 NDUFS1 MYH7 FKBP14 GRIN2D NDUFS8 PPP3CA AHCY SCN2A SLC5A6 EXOSC3 AP3B2 ALG14 DMXL2 LMNA NUBPL COLQ MPZ RARS1 NONO SYNJ1 NUS1 NDUFB9 SLC13A5 DPAGT1 NDUFAF4 LGI4 NDUFS7 RARS2 CYFIP2 LAMB2 WWOX UBA5 DPM2 CASK CACNA1B RALGAPA1 GEMIN4 CNKSR2 HEXA MYO9A ARX GABRA5 DHX16 WARS2 EEF1A2 IREB2 PARS2 NDUFAF8 SDHB ACTL6B COG8 GNB5 DNM1 PCLO EBF3 EXOSC9 FARS2 NDUFS2 DHDDS HP_LONG_TRACT_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TRACT_SIGNS TNFRSF11A A2M PLAU APOE APP HFE GTF2E2 MPO NOS3 HP_ANARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANARTHRIA ALS2 ATP13A2 SYNJ1 FA2H SIGMAR1 DNAJC6 PODXL SPG11 FTL TBCE ALDH18A1 FUS HP_MOTOR_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_APHASIA VCP GRN MAPT PSEN1 TMEM106B GJB1 FA2H TREM2 C9orf72 CHMP2B HP_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOCELE WNT7A POMT2 SNRPB ZSWIM6 HES7 TBX1 FUZ FKRP DACT1 KCNQ1OT1 BMPER GP1BB H19 ARVCF IGF2 SIN3A INPP5E PAX3 POMT1 CEP290 COMT NOTCH3 UFD1 FLNA VANGL1 TBXT MESP2 ALX4 POMGNT1 PORCN LARGE1 CSPP1 CCL2 SEC24C GLI3 TMEM216 FREM2 GMPPB VANGL2 SC5D RREB1 FKTN KIAA0586 GRIP1 LFNG RIPPLY2 HIRA JMJD1C OFD1 B3GALNT2 FRAS1 MSX2 DLL3 HP_OCCIPITAL_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_MENINGOCELE INPP5E WNT7A JMJD1C TBX1 COMT SEC24C GP1BB ARVCF UFD1 RREB1 HIRA HP_CEREBELLAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_MALFORMATION WDR35 CLIP2 FKRP SOX4 BUB1B ARMC9 EVC FDXR CEP290 LONP1 HHAT AP1S2 ARID2 TMEM231 FGFR1 ZIC1 BCOR FANCI NPHP3 SKI RPGRIP1 CCDC22 TUBB USP45 LCA5 GMPPB TSEN15 MLXIPL LARGE1 B9D1 KANSL1 CEP55 OFD1 FGFR2 ARL3 RAC1 TBC1D24 SEPSECS WDR81 GTF2I CEP164 DHCR7 SETBP1 ASXL1 POMT1 KATNIP RNU4ATAC KIAA0586 TDP1 ERF GNAQ KIF7 EP300 SEMA3E NFIA SACS B3GALNT2 CRPPA TMEM107 BRF1 TBL2 TMEM67 GPC3 CC2D2A SNX14 GUCY2D INPP5E LMX1B RFWD3 RAB3GAP2 GRID2 DYNC2H1 CPT2 TMEM237 FRMD4A PMPCA DYNC2I2 PHEX CREBBP MYO5A MKS1 LAMA1 GOT2 GDF6 POMT2 HRAS C2CD3 RAB18 LIMK1 WASHC5 NUP88 GRIA3 SALL1 ACY1 RPE65 AHI1 FTO CDKN1C TSEN34 PSAT1 IMPDH1 SPECC1L ODC1 DCHS1 EBP CEP104 FUZ NOP56 POMGNT1 IFT140 MAB21L1 RAB11B DPH1 SMARCA4 RPGRIP1L TBC1D20 NOVA2 AIPL1 SPATA7 NID1 POMK MAF TMEM216 DPF2 CSPP1 NCAPG2 PMM2 IFT172 GRM1 DNMT3A HMGA2 POLR3A FA2H CDC45 SMG9 WDR73 PCYT1A COL4A1 GPC4 COL3A1 NRAS TCTN1 TGFBR1 BUB3 TCTN2 RBM10 BMP4 ZEB2 ALX4 PDHA1 SC5D SMARCD1 FGFR3 B4GAT1 EXOSC3 TMEM138 PIK3CA STXBP1 NONO EVC2 COX20 SIK3 TMEM240 ATXN8OS SETD2 ZSWIM6 ATP6V1A RAB3GAP1 EXOSC8 TRAPPC9 CACNA1G CDC42 CEP120 SLC25A24 B4GALT1 SLC35A2 NSD1 TAF1 NOTCH3 DAG1 PRKCG ADGRG1 SMARCE1 MDH1 ARID1A MUSK OPHN1 NOTCH2 ZNF423 PIBF1 RNF113A ELN CACNA1A IFT80 SRPX2 TRIP13 SLC25A19 EPG5 SMARCC2 TBCK LRRC32 ATP6V1E1 ATP6V0A2 PLG TBL1XR1 TCTN3 SEMA6B PTCH1 PPP1R12A SMARCB1 CRB1 SETX PACS1 MRE11 FKTN RDH12 DOK7 TONSL USP9X DOCK6 PIGN ASXL3 ARID1B FOXF1 RXYLT1 PAFAH1B1 BUB1 LEMD3 PIEZO2 FLNA KCNJ13 HYLS1 SRD5A3 FAM149B1 GTF2IRD1 THG1L POR CPLANE1 TRRAP RFC2 MPL PDE6D RRAS2 AHDC1 VPS51 TGFBR2 MEF2C MAN2B1 PHGDH ATR L1CAM DENND5A KIAA0753 PUM1 ATN1 PRKDC FLI1 TSEN2 SON TULP1 DKK1 ITPR1 ARL13B COG1 RD3 TSEN54 ATXN1 THOC2 CEP41 MYOD1 TMCO1 FBN1 PGAP1 SCYL1 RERE INPP5K MT-CYB TUBB3 CHD4 RNU12 FOXC1 VANGL1 IQCB1 INTS1 LRAT SIL1 NPHP1 MME QARS1 DAB1 CUL4B VPS35L TUBA1A PORCN SOX11 IGF2 SUFU MVK APC2 CRX B9D2 GLI3 TFAP2A CEP57 PPP1CB CENPF DYNC2I1 FAR1 RAPSN PCGF2 ATP2B3 KIF1A NUP37 XRCC4 NMNAT1 NEK1 CHD7 DACT1 WDPCP SLC39A14 MAP3K7 HTT CHP1 PIK3R5 BAZ1B DLG4 GJB1 SLC18A3 FLVCR2 WARS2 PEX16 KCNQ1 KCNQ1OT1 PAX2 KRAS PI4KA CACNA2D2 POMGNT2 SMO PIGU KLHL7 EBF3 TRPC3 FAT4 DHDDS CWF19L1 HP_DYSCALCULIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCALCULIA TARDBP CHMP2B SQSTM1 VCP HNRNPA2B1 SETD2 PNKP APC2 TMEM106B C9orf72 TBK1 GRN CHCHD10 MAPT NSD1 PSEN1 FUS MAP1B TREM2 HNRNPA1 SRY CACNA1A HP_HYPOTHALAMIC_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HAMARTOMA KIF7 CPLANE1 TMEM216 GLI3 SOX2 TCTN3 PDE6D FAM149B1 KIAA0753 SMO OFD1 SIX6 HP_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA PRF1 ALS2 MRAP DPYD ARSA TFG TBCD KCNT1 NHLRC2 ARX ALDH18A1 GABRA3 KCNJ18 TRAPPC2L GALC PNKP ATP1A2 NADK2 STAR BCAP31 NNT RANBP2 AIFM1 PRPS1 TXNRD2 ATP1A3 CACNA1S FGFR1 MC2R KRAS PAFAH1B1 HP_ASTROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOSIS TSC1 STRADA PSEN1 CHMP2B SQSTM1 ADAR VCP ERCC6 MTOR MAPT TMEM106B ERCC8 LAMA2 GRN TREM2 C9orf72 PRNP MT-ATP6 POLG TSC2 SLC30A10 NUP62 HP_PROGRESSIVE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_ENCEPHALOPATHY TREX1 WDR45 HTRA1 SUCLA2 TBCE NADK2 TH BSCL2 HP_LIMB_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSTONIA TDGF1 NODAL CYB5R3 TUBB4A CDON FTL DLL1 DISP1 TGIF1 FOXH1 PTCH1 SIX3 GCDH SPATA5 COL4A1 GAS1 DDC ALS2 CYB5A JAM2 SHH VPS13C FUS PNPT1 ARX DLAT GNAL BSCL2 FGF8 AFG3L2 VPS13A VPS37A MAPT SMC1A COX20 ZIC2 YIF1B GLI2 STAG2 GFM2 SLC6A3 GCH1 PRKRA HPCA THAP1 PARK7 TH TAF1 SYNE1 SPG11 FITM2 SLC18A2 WARS2 FGFR1 SIGMAR1 CKAP2L ANO3 PANK2 COL6A3 ATP1A3 HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY NDUFAF3 NDUFB8 GCDH SLC44A1 DLAT FA2H SURF1 C19orf12 COASY PANK2 CYP2U1 SLC30A10 FTL PLA2G6 NDUFS2 KCNQ2 MMUT SCO2 POLR2A HP_ABNORMAL_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEAD_MOVEMENTS GABRB3 CACNA1H LAMA1 MAPT NAA10 JRK EIF2AK2 UCHL1 PEX10 GPR88 CACNA1A SIGMAR1 NKX6-2 DLAT PIGT GAMT GJC2 VPS13A HIBCH ALS2 PRNP FMR1 SPG11 TMEM63A KIF1C PLP1 VAMP1 GABRG2 GABRA1 FUS SLC2A1 HP_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_MUSCLE_WEAKNESS GRIA3 NUTM2B-AS1 REEP1 VCP SQSTM1 C11orf95 MAPT BSCL2 MFN2 SETX CPOX TRPV4 ALG2 GARS1 GYG1 EXTL3 TRMT10A POLG ATL1 ACTN2 FUS MYH7 NDRG1 LITAF TNPO3 SOX10 RAI1 CRYAB TIA1 ANO5 SORD XRCC1 GTPBP2 LDB3 DNM2 SYT2 TDP1 MPZ DARS2 DES PMP22 NEFL VPS13A JPH1 DCAF8 GMPPB GAN SACS HARS1 SIGMAR1 LMNA TYMP C19orf12 GFPT1 PLEC ANG DYSF TTN MYOT RELA TK2 GCH1 CACNA1A TBK1 CHCHD10 GNE SNAP25 PPP1R15B MYH2 HADHB VAPB EGR2 MT-ATP6 YARS1 ATP7A PTRH2 HINT1 MPV17 SLC5A7 ATP1A2 ADSS1 HSPB1 HSPB3 PNKP ACTA1 CHAT PLEKHG5 AIFM1 AGRN INF2 KLHL9 C12orf65 ABCA1 HADHA SCYL1 NEB SH3TC2 COL6A1 TPM3 HSPB8 PRX SLC18A3 MYBPC1 SBF2 VAMP1 PNPLA6 NAGA SLC25A1 GDAP1 IBA57 MAP3K20 MME PRPS1 FBLN5 COL13A1 DCTN1 RFC1 ALS2 SARDH GJB1 SPG11 FGD4 RAB7A SCN1A DGUOK HK1 ZC4H2 COL6A2 SPTLC2 ERLIN2 IGHMBP2 ALG14 FLVCR1 MATR3 BICD2 BIN1 VPS13D COLQ TCAP HNRNPA1 KIF1B TARDBP DMPK ATXN3 COL6A3 DPAGT1 LRP12 CAV3 CPT1C LAMB2 FIG4 RRM2B CHP1 LRSAM1 SLC25A21 PABPN1 MTMR2 MYO9A DYNC1H1 HNRNPA2B1 RYR1 HMBS FLNC SPTLC1 C9orf72 VHL COA7 PRRT2 DHH GIPC1 MTTP PNPLA2 ELOVL5 MYH14 AARS1 MORC2 MED25 AFG3L2 HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS PDGFB ERCC8 SLC20A2 PDGFRB ERCC6 HP_LANGUAGE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LANGUAGE_IMPAIRMENT BCR PSEN1 VCP TM4SF20 ABCA7 ADGRG1 HNF1B SPP1 MAPT LHX1 HSD17B10 ADNP TREM2 C9orf72 CHMP2B SH2B1 ACSL4 KMT2C GRN NF1 TMEM106B TOMM40 PAFAH1B1 MBD5 PRPS1 PSEN2 APP CRKL HNRNPA2B1 FLCN TBK1 SRPX2 PRKAR1B PI4KA FOXP1 STAT4 NOTCH3 SORL1 MAPK1 IRAK1 GATAD2B EHMT1 GJB1 SYNGAP1 DCX HNRNPA1 SQSTM1 CNTNAP2 HP_SPASTIC_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DYSARTHRIA ATXN8OS GLRX5 GJB1 ATP2B3 ERLIN2 SPG7 AP4M1 MAG MAPT SPART ALS2 AP4E1 AP4S1 ALDH18A1 PRNP RAB3GAP2 GBA2 TDP1 SLC52A2 AP4B1 POLR3A MARS2 VAMP1 PEX6 AFG3L2 HP_POOR_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SPEECH APC2 DCPS IQSEC1 NODAL UNC80 CHSY1 NDST1 GPR88 AP4M1 FDXR MBOAT7 AP1S2 DMD PIGC GDI1 SLC6A17 TRMT10A C12orf4 DISP1 SASS6 CLIP1 MED13L NDUFA13 KIF15 GMPPB POMK TGIF1 SIX3 MBD5 TREM2 SMC1A ZMYND11 PAK1 SOBP MED23 NUBPL ADK FOXRED1 ARHGEF6 TAOK1 FOXP2 RPS6KA3 CRBN MYT1L TMEM106B CSNK2B AP4E1 CIC FRRS1L TRRAP CCDC22 CACNG2 KIF4A HNRNPK TRMT5 HEPHL1 PSEN1 PRSS12 SLC35A1 ASH1L ZNF148 NALCN GATAD2B CRADD DLG3 SHH CAMK2B MTHFS TELO2 BRF1 CHMP2B SQSTM1 DEAF1 FMN2 ALG9 DAG1 GLI2 NRXN1 WASHC4 MAN1B1 ADPRS SLC45A1 EGF UPF3B GRN NGLY1 MTO1 TRAPPC11 BRSK2 STAG2 PPP1R15B EXT2 USP9X TAF2 NAGS IQSEC2 PYCR2 MAPT GPAA1 SKI HDAC8 KCNK4 CDON TRIO TUBB4A FBXO31 ADD3 ASPA PTCH1 CNTNAP2 GRIK2 OPHN1 DLL1 SARS1 METTL23 VCP SET GAS1 SLC39A14 EPB41L1 FOXG1 KANSL1 GRID2 MED12 CDH15 UBE2A LINS1 VPS11 ACSL4 SATB2 RTTN GAMT FGF12 ATAD3A KIF1A KDM5B DOCK8 SYNGAP1 TUBB3 FGFR1 FOXH1 ZC3H14 ZIC2 SNAP25 RAB11A UQCC2 MED12L STXBP1 VLDLR NSUN2 TDGF1 RAC1 DIAPH1 EIF2S3 DOCK7 ZNF81 CC2D1A CHKB CLTC CHMP1A PAK3 MRPS2 RLIM SMC3 TSC2 POMT1 HNMT SYP MECP2 WDR73 SARDH HIVEP2 LARGE1 ATP10A MED25 SMARCA2 SLC39A8 MID2 PPP3CA DYNC1H1 FBXL3 B3GALNT2 TRPM3 LAS1L TUSC3 PGAP1 AGTR2 ZNF711 WIPI2 ZEB2 DLAT UBE3A AP4S1 TNIK RAB39B EZR C9orf72 SNRPN EDC3 CNKSR2 KCNAB2 PRDM16 GJC2 FGF8 CSF1R AP4B1 CNNM2 PIGH NDUFS1 CLCN4 LMAN2L NONO GNPTAB CLIC2 ALG13 GRIN2B KCNQ5 KCNMA1 GRIN1 ATP6V1A CAMK2A PPP2R5D AIMP1 TBCD TAF6 POMT2 ZNF41 NDUFA6 KAT6A KIRREL3 CDC42 PTCHD1 ODC1 TSPAN7 ST3GAL3 SLC9A7 EEF1A2 FRMPD4 TSC1 ATP6V1B2 TRAPPC9 GUSB PUS3 DYRK1A USP27X ARX RSRC1 CXorf56 RNASET2 PPP2R1A SLC19A3 WDR45 GATA4 GABRD CTNNB1 SYT1 TECR HS6ST2 CUX1 KIF14 CAD CHAMP1 TBCK IL1RAPL1 ATP6V1E1 ATP6V0A2 FRMD4A COG8 FTSJ1 OCA2 HCFC1 TCF4 RERE FKRP PLPBP HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA CAMTA1 FRMD4A ABCB7 ATP2B3 NADK2 DNAJC19 ITPR1 CWF19L1 ATCAY HP_SMALL_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_CEREBRAL_CORTEX CENPJ MCPH1 ZNF335 CDK5RAP2 TCF4 CDK13 KIF14 ASPM HP_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXPRESSIVE_LANGUAGE_DELAY CDON SRCAP PUF60 NSD1 FGF8 TGIF1 FLCN GNB1 GRIA3 FOXP2 RSPRY1 DLL1 ZEB2 POGZ FOXH1 HERC1 SDHD RAI1 SPATA5 FOXP1 SDHB TAF1 ZIC2 PTCH1 SIX3 SDHAF1 ARID1B TDGF1 KMT2C SHH AHDC1 SDHA TUBB3 GAS1 EHMT1 DISP1 GLI2 GNE NODAL GNPTAB SHMT2 HP_MYELOMENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOMENINGOCELE CCL2 SNRPB GLI3 FREM2 FUZ DACT1 KCNQ1OT1 VANGL2 SC5D BMPER H19 IGF2 SIN3A GRIP1 FLNA PAX3 VANGL1 TBXT ALX4 OFD1 FRAS1 PORCN HES7 MSX2 HP_PRIMITIVE_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_REFLEX JPH3 MAPT GLRB GM2A DNMT1 PIEZO2 SPG21 HADHA PSEN1 HADHB ST3GAL3 ALDH18A1 NGLY1 TYROBP TUBB3 TREM2 CTSF DPM2 HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA ARSA PLP1 ACP5 FA2H GM2A PSAP ARG1 ATP13A2 PLAA PAFAH1B1 NADK2 HP_HEPATIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_ENCEPHALOPATHY SLC25A13 XIAP RINT1 NBAS PCK1 DLD SH2D1A ALMS1 HP_BULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_SIGNS MT-ND4 MT-ND6 PLAA ATXN1 KLHL41 GFAP MT-TW MT-TL1 ARSA MT-ATP6 MYPN MT-ND1 ACTA1 SLC39A14 PSAP SIGMAR1 NEB GSN MT-ND2 PLA2G6 FIG4 TPM2 KBTBD13 REEP1 MT-ND3 MATR3 TPM3 ALS2 MT-TV RYR1 MT-TK SPG11 GBA MT-ND5 FUS HP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOTONIA CACNA1A DMPK ANO5 ACTA1 UCHL1 CLCN1 LIFR SYNE2 PFKM SCN4A HSPG2 TMEM43 CAV3 CNBP PURA CAVIN1 SGCG LMNA VMA21 FHL1 SYNE1 DNAJB6 HINT1 KCNA1 EMD TTI2 SVIL HP_HYPERKINETIC_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKINETIC_MOVEMENTS FRRS1L PYCR2 GRIN1 GAD1 THOC2 PNKD GRIN2A GCH1 NGLY1 FOXG1 SYT1 PRRT2 SLC6A3 SUCLA2 GNAO1 TRAPPC11 SLC9A6 HSD17B10 RTTN IQSEC2 ZNF142 PSAP YME1L1 PDE10A CACNA1E VPS13A ALDH5A1 PTS NEUROD2 GNE CACNA1B HP_ACUTE_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LEUKEMIA GFI1 SRP54 JAK2 SMPD1 CBFB DDX41 SBDS PICALM BUB1B KRAS BAX CDKN2A RUNX1 WIPF1 TET2 TSR2 WAS MPL THPO MEFV PIGL RPS17 BRCA2 SRSF2 RPL11 RPS19 NUP214 BUB1 LIG4 TYROBP NPM1 ATRX BUB3 TP53 ELANE PIGA ABL1 APC2 MSH2 DNAJC21 SAMD9L TREM2 ADA2 RPL35A RPS10 RPL35 RPL15 RPS7 EVC DYNC2LI1 RPL31 ERBB3 CHIC2 TERT RPS14 CEP57 GLI1 GNB1 BCR RARA NSUN2 ASXL1 STS FLT3 MLLT10 EFL1 KIT RPS24 GATA1 ETV6 NBN RPL26 NSD1 RPS26 RPS28 SH3GL1 CHEK2 RPS29 RPL18 TAL1 CALR XRCC4 SETD2 GATA2 TAL2 TRIP13 SF3B1 EVC2 DNMT3A RPL5 SH2B3 NUMA1 MDM2 RPS27 CBL RPS15A BLM DKC1 LPP TCIRG1 CEBPA RPL27 SAMD9 HP_INCREASED_CSF_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CSF_LACTATE NDUFA11 MT-ND4 NDUFS4 NDUFA4 COX6B1 SURF1 NDUFA13 NDUFAF1 COX4I1 COX14 LONP1 HSD17B10 TIMMDC1 ECHS1 TXN2 NDUFV1 FOXRED1 NDUFS6 NAXE MT-ND1 MT-TF NDUFA10 C12orf65 TMEM126B SLC39A8 NDUFAF3 PNPT1 MDH2 NDUFS1 MRPS34 NDUFS3 NDUFS8 MT-CO3 PET100 MTFMT NDUFAF6 AIFM1 MT-ND2 PDHA1 MT-TQ SCO2 NDUFB10 SDHA TACO1 MT-CO1 NDUFA12 DARS2 GFM2 TRMT10C NUBPL MT-TV MT-TS2 NDUFB8 COX15 COX20 NDUFV2 NDUFB9 MT-ND5 MT-TW NDUFS7 SLC13A3 SLC25A19 PET117 NDUFAF4 HTRA2 COQ8A PDHX GFM1 SLC19A3 NDUFAF2 RARS2 COX8A MT-ND6 MT-TN MPV17 NDUFS2 NDUFA1 MT-ND3 NDUFAF5 MT-TL1 MT-ATP6 NDUFAF8 MT-TH NDUFB11 NDUFB3 RMND1 NARS2 SUCLG1 LIPT1 NDUFA6 LRPPRC HPDL NDUFA9 MECP2 MT-TK TRAPPC12 COA8 MT-CO2 NDUFA2 COX10 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT TARDBP BAZ1B CLIP2 LIMK1 SPG11 ALS2 SPG7 ELN TBL2 RTN2 DCC PDHB SQSTM1 DEAF1 GTF2IRD1 ATL1 GTF2I PRPH IQSEC2 C9orf72 TBK1 L1CAM RAD51 NTN1 CHCHD10 DNAL4 CPT1C RFC2 SPAST GALC PLP1 MT-ATP6 FLII WASHC5 FUS RAI1 DCTN1 NEFH VCP NIPA1 SLC33A1 SOD1 HP_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_MOTOR_NEURON_DYSFUNCTION CLIP2 NDUFA4 NODAL PDHX UNC80 WDR62 FKRP GPHN MCOLN1 GNB1 SYNE1 AP4M1 PPARGC1A MAG MT-CO3 KIF5A PMS2 ATXN7 ACOX1 SLC1A2 C12orf4 SPATA5 KCNA1 GRIN1 PROKR2 SCN4A CYFIP2 ATP13A2 PHACTR1 TOMM40 SOX10 IL17RD STAT4 DNMT1 ARHGEF9 SIK1 PRF1 SLC25A10 TBC1D20 IL23R ARHGEF6 SEPSECS SPG7 SLC12A2 GBA2 HTRA1 DHCR7 CBS TGFB1 B4GALNT1 CTSD PEX10 NSUN2 MECP2 ARX NDUFA12 HPDL ANK3 NEFH VPS13A FUCA1 MT-TV TANGO2 PIGP MYORG ABCB7 MLH3 PCYT2 BRF1 GABRA2 WASHC4 PAFAH1B1 ADCY5 GUCY2D SLC45A1 GFM2 GALC TIMM50 MTO1 BRSK2 DSTYK LMX1B LIPT1 TXN2 PSEN1 PMPCA PYCR2 ERCC5 SDHA CARS1 GOT2 KANK1 POLG2 TRAF7 ASPA CLPB VAMP1 PTCH1 DLL1 RNF13 DNASE1L3 GRIA3 FIG4 GRM7 SCN1B NFASC NDUFS2 MTFMT CKAP2L C12orf65 CCNF NARS2 PANK2 ATAD3A LAGE3 ODC1 TACO1 SPTBN2 CARS2 ZC3H14 YWHAG SMC3 MARS2 STXBP1 PDYN CCDC88C HMGCL GRIN2A KIF1C KCNC3 TYROBP HSPG2 MOCS1 TUBB3 SIX6 CACNA1A SEMA3A CHMP1A REEP1 COL4A1 CFHR1 KCNB1 RLIM RHOBTB2 FA2H RFC1 POLG CLCN4 SLC30A10 MT-TF C9orf72 SOD1 TUBGCP6 GPT2 MED25 CAMK2A TECPR2 SERAC1 EIF2AK3 ATN1 TDGF1 BSCL2 GCH1 MAN1B1 ABCD1 AP4S1 BICD2 B4GAT1 NF1 EDC3 CNKSR2 TARS2 L2HGDH CACNA1S AP4B1 AIFM1 EXT2 SLC6A5 BEAN1 TARDBP TRAK1 GTF2H5 ERAP1 KCNT1 KIRREL3 NF2 HACE1 ST3GAL3 ROGDI ATXN3 SLC19A3 NDUFB8 TAF1 GABRA5 EEF1A2 FRMPD4 GJA1 SCN3A ASNS DDX3X MDH1 THSD1 SET GLI2 OPHN1 ZFR ZEB2 MEFV B3GALT6 GLRX5 HLA-B COQ5 COG4 FGFR1 IREB2 CIT HNRNPA1 DPAGT1 PRKN ERCC4 DCTN1 AMACR HEPACAM KIDINS220 FTSJ1 HCFC1 NAGA FBXW11 NKX6-2 CRB1 SELENOI RERE MT-TP MAPT CACNA1G ALS2 SURF1 PQBP1 VPS37A NTRK2 DNAJC3 FGF17 SCN2A CLIP1 DDC SUZ12 COL4A2 SLC25A12 MBD5 FEZF1 DLAT FAN1 CPT1C GTF2IRD1 SZT2 PNPO ADAM22 AP4E1 THG1L TPRKB DARS2 GUCY1A1 GLYCTK SLC25A19 AFG3L2 DPYS SLC25A46 PTS ATP6AP2 MT-TS2 GRIN2B NALCN PEX14 TGFBR3 MCCC2 PCBD1 OPA1 PDCD1 SYNJ1 EZH2 PPP3CA ADAR SOX4 PNPLA6 DENND5A TFG GRN FAM126A TCTN2 NEK1 BCAP31 TSEN2 APC2 HCN1 CDK19 FOXP1 SOX2 CNOT1 TAF2 DCX PON3 FARS2 BCAT2 PLA2G6 TSEN54 LINGO1 TUBG1 MT-ND6 ADAT3 EPB41L1 KYNU RNF170 MYO5A CYB5R3 SNCA DAO KDM5C IL12A-AS1 INPP5K STN1 TOR1A COASY MFN2 EIF2AK2 GMPPB ERCC3 SPART L1CAM CRLF1 SDHD PODXL NDP FOXH1 SIX3 EIF2B4 TBCD PRDM8 ARNT2 STUB1 NR2F1 SHH PLAA ATRX HPRT1 PLP1 RBM28 ZC4H2 NIPBL PRICKLE1 CRX DNAJC6 SLC17A5 CDON ABCC6 GJC2 SPAST GLE1 COPB2 KIF11 MT-TK COX15 ALG13 AARS2 ATP2B3 PHGDH MED13L KDM1A MFSD2A ERCC2 RNASEH2A PTCHD1 PAX1 TBK1 PRNP FGF8 SLC13A5 IBA57 COX8A PSAP LMNB1 ADA2 ATXN2 CFAP410 PITX3 POLR3A PIK3R5 APP FBXO7 MRAP NSD1 DNAJC19 SLC12A5 CAPN1 MTOR LAMB1 EBP RARS1 ALDH3A2 TGIF1 ARSA NPC1 GCDH NDUFS4 PIGU PCLO PARK7 ARFGEF2 MT-TE STAMBP GATAD2B PSAT1 ANG SLC25A4 DKC1 CWF19L1 IQSEC1 ARV1 VPS13C SQSTM1 WDR48 SMPD4 ERLIN1 ARL13B ELOVL4 SCYL2 TP53RK PDGFRB GABRG2 AP1S2 TTPA NDUFS7 TRMT10A AP5Z1 CPT1A GDF6 HNRNPH2 NDUFA13 GLRB FUS MT-ND1 TSEN15 VCP ANKLE2 CYB5A SLC33A1 LARGE1 PRPS1 NTNG1 KIF1A PINK1 PEX1 TAOK1 GBA CACNA1D NEXMIF ALDH18A1 SCN8A MPDU1 SETBP1 MYT1L RETREG1 MT-CO1 LYST SETX ASH1L LIMS2 NACC1 SPR CRADD COQ2 SLC20A2 NPHP3 SPG11 TELO2 CHMP2B QDPR AUTS2 SNX14 MT-TC FTL SLC25A22 TBC1D24 SMC1A RAB3GAP2 DYNC1I2 EIF2B2 PPP1R15B EYA1 PEX13 COL3A1 UFC1 UBQLN2 HINT1 GPAA1 DHCR24 CASK SHMT2 WDR4 MT-TL1 TPP1 SLC39A14 BRAF IL12A KCNJ18 SIGMAR1 ENPP1 PSPH TBCE NNT RNASEH1 ERCC1 NARS1 KIF5C RNASEH2C DDHD1 DOCK8 CAMTA1 CDKL5 NDUFV1 IFIH1 MED17 SPATA7 RFT1 EIF2S3 ARF1 FXN PEX7 SLC2A3 CLTC AAAS ITM2B HIVEP2 MT-TQ UBA5 NDUFAF3 PNPT1 TLR3 SLC1A4 ALAD AGTR2 NOP56 TREM2 MT-TW TTR SUFU DMXL2 CHCHD10 WASHC5 REPS1 APOA1 SUOX LMAN2L NOTCH2NLC NSMF YIF1B TSC1 KCNQ5 SLC2A1 MLC1 ATP6V1A ZNF41 NDUFA6 HTRA2 DPM3 OSGEP BCKDHB GABBR2 MACF1 SLC9A7 RALGAPA1 XPA GBE1 POMGNT1 TBC1D23 CTLA4 KCNA2 NDUFAF2 NT5C2 NDUFAF5 CTNNB1 DBT TECR H1-4 NDNF IDUA ERCC6 ATP6V1E1 SDHB ACTL6B POMT2 UGP2 HESX1 PIGC B3GALNT2 EXOSC9 ERCC8 RAB18 KMT2B RRM2B APC GAMT CTSF KCNJ6 EXTL3 UNC13A BTD ACP2 GLT8D1 PARN EXT1 NUP133 IL10 LIAS TERT RPS6KA3 FLRT1 PDGFB POLR1C MOCS2 GM2A DISP1 CACNG2 RPE65 CYP27A1 PNPLA8 ARSI BAP1 PFN1 BCL11B UBAP1 ADGRG1 RPGRIP1 ATL1 ARG1 SLC6A3 PNKP PRKRA PAX6 CLP1 TULP1 ENTPD1 PEX26 BDNF POMK LRP4 TRAPPC12 TMEM63A ISCA1 TUBGCP2 BRAT1 RNU4ATAC POLA1 GAD1 THOC2 C19orf12 GRID2 MT-CO2 PGAP1 MT-TH NDUFS1 TAF15 FAR1 SCYL1 REEP2 GRIA2 MSH2 CCDC141 CTDP1 DLL4 UBTF SIL1 GRM1 FGF12 CYP7B1 TGFBR2 STAR CHD7 DARS1 HNMT SYP NADK2 GJB1 EMC1 MID2 MDH2 ZFYVE26 SAMD9 DALRD3 NDE1 NDUFS3 MFF ZNF711 SCN1A NEFL PAX3 SVBP EIF2B5 TNIK VPS11 EZR TMEM106B ERLIN2 KMT2A PEX16 DEGS1 MATR3 HSPD1 NUP214 ZIC2 UCHL1 RAB3GAP1 HUWE1 TSPAN7 PMS1 KAT6A WWOX ENG TUBGCP4 CAV1 RANBP2 GRIN2D USP27X MTPAP HEXA IKBKG WDR45 HNRNPA2B1 DUSP6 TMX2 SPRY4 RPS20 SNORD118 PLCB1 CUX1 RTTN CHAMP1 PHYH IL1RAPL1 USP8 MT-ND5 PRSS12 DLD PIK3CA PCCB NIPA1 NUP107 GAS1 DCPS TUFM ANOS1 ACER3 FDXR DHPS TINF2 DMD LYRM7 BCS1L GDI1 KRAS GNAQ XPC DDB2 ACP5 RTN2 EOGT EPM2A USP45 NOTCH1 PIGQ MRPS22 SMARCB1 NPC2 CNPY3 HDAC8 SP110 PMPCB DNAJC12 MRM2 MSH6 ALG3 MT-ATP8 RPIA POU3F3 PDHA1 EPCAM FDX2 SLC6A19 RNASEH2B SPTAN1 TBL2 GABRA3 ADPRS ZFYVE27 CLCF1 CFH UPF3B MRE11 CSF1R KCNA4 DYNC1H1 RUSC2 UBAC2 IQSEC2 OCLN CYP2U1 ECHS1 SLC1A3 TREX1 NUP62 PSEN2 FBXO31 GLB1 LIMK1 SARS1 AKT1 MSL3 NHLRC2 PEX3 FOXG1 ALG11 FTO SLC44A1 TP53 WDR73 IRAK1 C4A NDUFA9 ACTA1 PON2 MT-ATP6 IFT140 RAB11A MED12L KDM5B PEX12 ABCA7 PCDH12 NOVA2 AIPL1 EPRS1 DCC ARL6IP1 MT-CYB PTPN23 MEOX1 TUBB2B GNAO1 NCAPG2 PIGA POMT1 ATP1A3 UFM1 HLCS CCR1 PCYT1A KATNB1 AUH AARS1 NAA10 UGDH TRPM3 HLA-DQB1 NTNG2 NDUFAF6 MT-ND2 ATP1A2 SAMHD1 WDR11 TMEM67 RTEL1 EXOSC3 PRTN3 PPP2R2B SLC16A2 NOTCH3 ATXN8OS NDUFV2 NUS1 KLC2 EXOSC8 MCCC1 HLA-DPA1 ATP7A CLIC2 TXNRD2 NDUFAF4 TNFRSF11A METTL5 HSD17B4 RSRC1 GJB6 ELN CIC SPOP AIMP1 SRPX2 COQ9 KCNQ2 ATP6V0A2 INTS8 TBL1XR1 BMPR1A COA8 MORC2 KISS1R PLPBP SEC31A DNM1L RNF113A SLC25A15 MBOAT7 FLNA TTBK2 VPS53 GABRB2 NDST1 MED23 KCNJ13 FAS EPHA4 CRBN CSNK2B DHDDS ATAD1 RFC2 WDR45B MTHFR LIPT2 PRPH SPG21 SON LBR USP9X AGTPBP1 RD3 NAGS PNP PET100 EML1 BOLA3 METTL23 POLR3B NEUROD2 TRAPPC4 GDAP2 HS6ST1 SYNGAP1 VAC14 CFHR3 ADSL SMO IQCB1 ERGIC1 MMUT VAPB ABCC8 TPP2 ZNF592 EARS2 ZNF81 CC2D1A HSD17B10 HLA-DRB1 BCOR TUBA1A OPA3 SARDH TRIM8 MIPEP NCAPD3 ABCA1 TMTC3 NHLRC1 TOE1 GAN BCKDHA PRDM16 GRIA4 MLH1 TPI1 TARS1 SATB2 SLC12A6 CCT5 STAG2 TRAPPC2L ATXN10 ATM TRAPPC9 TSEN34 CHP1 BAZ1B KLRC4 WARS2 PON1 TRIT1 TIMM8A PROK2 PRRT2 TMEM231 FRMD4A KCNQ3 SEMA4A PEX2 TSC2 RAD50 HTT ABHD12 FBLN1 PEX19 SMARCE1 CEP290 KY LCA5 SLC35C1 ZMYND11 RAB27A SUMF1 NECAP1 NUBPL RBPJ ISCA2 SMPD1 CYP26C1 GTPBP2 NEU1 GTF2I TGM6 FRRS1L TDP1 EEF2 PLK4 SACS PRUNE1 AGA COG2 DEAF1 OTUD6B CTNNA2 GSS PET117 GFM1 GLRA1 TPK1 OPTN ARHGAP31 SDHAF1 HADHB WDR26 HIKESHI EIF2B3 SLC18A2 COQ8A ADD3 GRIK2 MPLKIP IRF2BPL MICOS13 CDH15 IARS1 IMPDH1 KIF2A MC2R PEX11B RAB11B DPYD SLC6A8 TBP PTEN CNTNAP1 PAK3 FOXRED1 CACNA1E MTRR EED VWA3B JAM2 TWNK PEX6 AMPD2 OSTM1 SLC5A6 FKTN GUF1 KCNAB2 ANGPTL6 ETHE1 ACD COX20 MAN2B1 SOX3 PPT1 SLC35A2 TACR3 CXorf56 RNASET2 ERBB4 GABRD PTPN22 ADARB1 MT-ND4 PARS2 PIGT GJB2 DNM1 RAD21 NDUFA2 PPOX RDH12 MARS1 EIF2B1 MGAT2 SPP1 PEX5 CTC1 ASXL3 NAXE MAPK8IP3 NDUFA10 HEXB MRPS34 GTF2E2 ZSWIM6 TRMT5 SLC30A9 DLG3 COLGALT1 ASAH1 CAMK2B MTHFS FMN2 PIGN JAM3 DDHD2 PUM1 SETD5 ZNF335 TCF20 DKK1 TH SKI ELP2 TUBB4A OTX2 CNP MED12 NDUFS8 ACSL4 HADHA PCCA ACAT1 GFAP LRAT GDF3 RASA1 LRRK2 MECR OGDH EXOC8 ERF MT-TI TUSC3 SAMD9L SLC6A9 SUCLA2 PAH AP3B2 TTC19 ACADS VPS13D LINS1 ANXA11 GSX2 TLR4 RNF216 NMNAT1 RAB39B ATXN1 DOCK6 RARS2 SLC52A2 WT1 ADNP DYRK1A CACNA1B FLRT3 EDNRB HK1 HLA-DPB1 PI4KA SORL1 MT-ND3 MTTP TCF4 RORA CNTNAP2 SCO2 HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP MAGEL2 P2RY11 SIM1 DMPK HCRT HLA-DQB1 COQ2 TNFSF4 ZNF365 MEN1 CTSH HLA-DRB1 MOG HP_IMPAIRED_VIBRATORY_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATORY_SENSATION PDYN SPG11 REEP1 WDR48 VPS37A SLC25A15 TWNK BSCL2 MFN2 SETX MAG CYP7B1 ALDH18A1 FXN KIF5A GBA2 NIPA1 POLG DDHD1 ATL1 PDK3 RTN2 KCNC3 REEP2 SLC33A1 SPG7 KCND3 DHH SORD SPART FLRT1 SAMD9L HK1 ABCD1 ATXN3 CACNA1G TDP1 SPAST ERLIN2 DARS2 TPP1 FLVCR1 NEFH PLEKHG4 VPS13A WASHC5 ARSI DCAF8 GARS1 SACS HARS1 BEAN1 PRKCG HSPD1 ATXN8OS GCH1 C19orf12 CPT1C ATXN1 SLC52A2 MT-ATP6 SYNE1 HINT1 KLC2 POLR3A ZFYVE26 LRSAM1 FMR1 VCP SAR1B FGF14 SCO2 B4GALNT1 KLHL9 MTTP ATXN2 MT-TE MORC2 PLOD1 SPTBN2 VAMP1 PEX6 HP_SPASTIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_ATAXIA PRDM8 TANC2 MARS2 SPG7 VAMP1 KIF1C DARS2 TUBB3 MMADHC SACS CACNA1G TBCE MTPAP GLRX5 AFG3L2 HP_SPINOCEREBELLAR_TRACT_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINOCEREBELLAR_TRACT_DEGENERATION ATXN1 GCLC TDP1 GJB1 ATXN3 PLP1 MAN2B1 ATXN2 HP_PROGRESSIVE_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_INABILITY_TO_WALK LRP5 PLEC ADAR POMT2 TWNK NEU1 MAPT MYOT GFM2 MFN2 GALC SDHD FAM126A SLC9A6 HSD17B10 AP4S1 GDAP1 GABBR2 MECP2 SDHAF1 FA2H POMT1 ALDH18A1 GMPPB MT-ATP6 SDHA DNAJB6 HINT1 CRAT LARGE1 NUP62 NTNG1 GLRX5 CDKL5 SLC39A14 HK1 SUCLA2 RNASEH1 KLHL9 STXBP1 BVES SDHB DARS2 DES ERBB4 RRM2B VPS13A TK2 REPS1 CRPPA DYSF VAC14 FARS2 CLN3 FKRP HP_DIFFUSE_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBRAL_ATROPHY SIK1 COG2 GNAO1 GRIN2A TBC1D24 MED17 ARX SCN1B FDXR PRKAR1B STXBP1 CTSF NEUROD2 SCN2A SLC25A22 HSD17B10 TBP CARS2 COG5 KCNA1 GALC TBCD DMXL2 PIGP PMPCA ATP13A2 PSAP GLB1 CASK CDKL5 BTD TRIM8 PIGQ FARS2 PNKP RARS1 ATP6AP2 FMR1 DNM1L HP_SEMILOBAR_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEMILOBAR_HOLOPROSENCEPHALY ZIC2 CNOT1 SMC1A STAG2 TGIF1 PTCH1 SEC31A HP_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_HYPERTONIA KDM1A ARV1 TRAK1 WDR48 GNB1 VPS37A NTRK2 DHPS SLC6A3 ATRX GABRG2 MTPAP FGF12 SDHD ALDH18A1 PRPS1 SLC1A2 SPATA5 EMC1 ATL1 KCNB1 RHOBTB2 MTRR DDC TSEN15 SLC35C1 GABRB2 SLC33A1 NCAPD3 NECAP1 KATNB1 PNPT1 AARS1 SPG7 DALRD3 GRIN2D SEPSECS GCH1 SZT2 SCN8A PPP3CA DNAJC12 WARS2 STXBP1 AP3B2 TARS2 POLR3A SLC25A19 ARSI NDUFA9 SLC30A9 PIGP RARS1 ADCY5 SYNJ1 KDM5C BRF1 NUS1 CLTC GABRA2 SLC13A5 GFM2 KAT6A TSEN2 HCN1 CDK19 CYFIP2 FA2H LBR SDHAF1 WWOX SYNGAP1 PYCR2 UBA5 COG4 ADGRG1 SDHA CACNA1B TSEN34 ATP6V1A TSEN54 PLAA ERCC1 CNKSR2 KCNA2 GABRA5 GRM7 EEF1A2 SRPX2 SCN3A ALG11 SPR HK1 PARS2 EBP PI4KA CACNA1A ERCC6 USP8 SDHB ACTL6B FRMD4A PCCA KIDINS220 DNM1 PCCB UBTF YWHAG ERCC8 DHDDS HP_SPASTIC_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPLEGIA PRDM8 RNASEH2B PDHX ALS2 PCDH12 CYB5R3 MCOLN1 ELOVL4 MOCS1 SYNJ1 SIX6 SAMHD1 SCN2A GRIN1 TBCD CACNA1E VPS53 TUBA1A GAD1 ANKLE2 CYB5A WDR73 MRPS22 SOX10 NALCN STXBP1 AUH TBC1D20 CNPY3 NDE1 ARSA SLC1A4 CACNA1D LIAS TREX1 PHGDH OSTM1 MOCS2 WARS2 GRIA4 SLC16A2 GLYCTK DEGS1 FUCA1 CSF1R TANGO2 TBCE SEPSECS COLGALT1 CLIC2 GSX2 YIF1B COG2 BCL11B ADAR SPTAN1 OTUD6B CTNNA2 AP4M1 RNASEH2A UNC80 APC2 DYNC1H1 IBA57 SOX2 NDUFAF4 SCN3A ASNS RANBP2 ADGRG1 GOT2 PET100 KANK1 GLB1 SHMT2 SLC19A3 TUBG1 ADD3 TMX2 CNP ATP13A2 SRPX2 PI4KA HSD17B10 KIF5C AP4E1 RNASEH2C KIF2A PLA2G6 ARX TUBB3 IFIH1 COASY RAB18 SEC31A HP_ALZHEIMER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALZHEIMER_DISEASE A2M PLAU APP APOE HFE NOS3 GATA1 PSEN1 ABCA7 CACNA1G PSEN2 MPO HP_BRAIN_STEM_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_STEM_COMPRESSION BAP1 TRAF7 TERT DKK1 SUFU AKT1 FGFR3 PIK3CA TNFRSF11A NF2 SMARCE1 SMARCB1 PDGFB SMO HP_CEREBRAL_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CALCIFICATION TREX1 RNASEH2B PEX6 DNM1L IFIH1 ECM1 SLC46A1 ATP7A ERCC3 ERCC4 ERCC6 SUCLA2 TYROBP TERC AP1S2 PDGFRB TINF2 FARSB EIF2AK3 MGP GNAQ SAMHD1 KL PAH RNASEH2C CTC1 GNAS APP RTEL1 ACP5 MT-ND1 FGFR1 PARN ABCC6 VPS33A CTNS MT-TF JAM2 TERT SMARCB1 USB1 GJA1 FAM20C PTCH1 COL11A1 MYMK CTNNB1 IFNG ENPP1 PSMB8 OCLN MT-CO3 CTSC MYORG PDGFB TREM2 TNFRSF11A MT-TQ PTH SC5D GNA11 KRIT1 USP18 SLC26A2 XPR1 MT-CO1 NRAS ZBTB20 PTCH2 ACD MT-TS2 CA2 SLC20A2 COLGALT1 DDR2 TSC1 PHGDH ADAR SNRPB SLC2A1 MT-ND5 AMER1 NPM1 QDPR FAM111A DENND5A TCIRG1 RNASEH2A CPT2 ERCC8 AIRE NSMCE3 NHP2 COL2A1 CLCNKB SUFU MT-ND6 DAG1 CASR ERCC5 SLC16A2 KRAS HRAS RNASET2 OPA1 ERCC1 CYP27A1 RELN SLC12A3 MT-TW SNORD118 NOP10 MT-TL1 PEX1 CYP2U1 MYO5A ACVR1 BRAF MT-TH ERCC2 MT-ND4 SLC29A3 WRAP53 ODC1 ISG15 TSC2 PSAT1 MT-CO2 DKC1 STAT2 HP_WADDLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WADDLING_GAIT COMP LRP5 VAMP1 VCP MMP13 FLNC FKRP YY1 AP4M1 SLC25A1 TMEM43 ASAH1 ALG2 TTN TRIM32 GMPPB MAP3K20 SLC6A17 CHST3 FHL1 CHKB ACAN COL13A1 SELENON NEB IFIH1 PREPL ACTA1 PLEKHG5 TPM3 MATN3 DYM SPG7 NOG FGD4 ANO5 HACE1 LAMA2 SLC34A3 NEFL COL9A2 AP4B1 AP4E1 AP4S1 COL10A1 BICD2 COL9A3 SGCG EMD COL2A1 KBTBD13 HACD1 ACBD5 ALG14 NEFH TGFB1 SYT2 UFSP2 BIN1 COLQ SPEG ALPL HNRNPA1 LTBP4 GFPT1 KLHL41 CANT1 DAG1 MYL2 DPAGT1 ITGA7 MBTPS1 TRAPPC11 DEAF1 DSTYK LMNA SNAP25 SGCB MYH2 LAMB2 TPM2 DMD DYNC1H1 LMOD3 SLC5A7 PTH1R DOK7 RYR1 MYOT MYO9A HNRNPA2B1 COL9A1 SLC39A13 SYNE2 MYPN SGCA POMT1 CHAT CFL2 AGRN SMARCAL1 CCN6 FN1 DNAJB6 DPM3 SYNE1 TRPV4 SLC18A3 POC1A MYH7 HP_INCREASED_INTRACRANIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRACRANIAL_PRESSURE MLH3 APC TRAF7 TERT PIK3CA ERAP1 TLR4 NF2 SMARCE1 KRIT1 SOST FGFR3 FGFR2 TWIST1 PDGFB PMS1 TGFBR2 ELMO2 NLRP3 PMS2 KRAS ERF LRP5 SDHD ZIC1 CASR DKK1 UBAC2 PSAP AKT1 CCR1 PDE4D SEC23B ALX4 CSPP1 STAT4 PRKAR1A PDCD10 GNA11 SDHB PRF1 MEFV HLA-B PTEN CTNNB1 FAN1 KLRC4 IL23R RPS20 IL10 FAS IL12A ANTXR1 USF3 L1CAM BRAF GALK1 VHL CCM2 KIAA0586 KLLN BAP1 MSH6 IL12A-AS1 SUFU TCF12 C4A SEMA4A BMPR1A MSH2 MLH1 SDHC GALC SMARCB1 EPCAM SMO HP_ABNORMALITY_OF_THE_PERIVENTRICULAR_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIVENTRICULAR_WHITE_MATTER DPM3 SPG11 TET3 DNM1L DLL4 PDHB RAC1 ARSA USP7 ERCC3 RNF113A AP4M1 LONP1 LYRM7 SHANK3 AMPD2 AP5Z1 ABCD1 PSAP LETM1 GM2A POMT1 EOGT GMPPB ATP13A2 NOTCH1 DDHD2 LARGE1 SUMF1 FARSA CPLX1 ARID2 RBPJ GTF2E2 ISCA2 ALDH18A1 NSD2 PC PDHA1 AP4B1 AP4E1 AP4S1 TSEN54 TBCK MTHFR CYP27A1 TRMT1 DEGS1 CLCN4 CSF1R ERCC2 STXBP1 TARS1 SEPSECS GTF2H5 BRF1 AARS2 POMT2 LIPT2 PDHX ARHGAP31 CDC42 NRROS CTBP1 ODC1 LMX1B MEF2C RFWD3 FGFRL1 DOCK6 SON ACP5 DPM2 LAMA1 SSR4 HIKESHI TREX1 OPA1 MPLKIP PUF60 CNP WARS2 OCRL HK1 VPS11 FA2H RTTN GALC MORC2 FKRP HP_HYPSARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPSARRHYTHMIA DCPS IQSEC1 ARV1 TRAK1 NTRK2 NEXMIF PHACTR1 COX4I1 LONP1 MBOAT7 GABRG2 KCNB1 SYNJ1 KCNQ2 DOCK7 SLC1A2 C12orf4 SPATA5 KCNA1 CLIP1 CYFIP2 ZNHIT3 EPM2A HIBCH GABRB2 PIGQ PAFAH1B1 NDST1 NECAP1 SIK1 CNPY3 MED23 UPB1 ALG13 SCN2A SZT2 CRBN SCN8A SETBP1 TGFB1 ATAD1 GRIN2B FRRS1L STXBP1 ERMARD SLC25A22 GFM2 GLYCTK PRSS12 ST3GAL3 ALG3 ALG2 PTS NACC1 PIGP CRADD GUF1 PNKP DNM1 PPP3CA EEF1A2 KIF1A SPTAN1 CLTC FMN2 GABRA2 NRXN1 ALG14 PLCB1 WASHC4 SLC45A1 TIMM50 GABBR2 PIGA ABCC8 APC2 HCN1 CDK19 PIGW SYNGAP1 WDR45 TRAPPC12 ATP6V1A PLAA FBXO31 CDKL5 GAD1 CNTNAP2 GRIK2 SARS1 METTL23 SCN1B SCN3A NEUROD2 CUX2 KCNT2 KCNA2 CACNA1A AIMP2 FGF12 KDM5B ZC3H14 YWHAG NSUN2 MED17 PTPN23 SLC35A2 CC2D1A SMC1A CACNA1E HNMT TRIM8 EXOC8 MED25 SLC39A8 AARS1 KCNJ11 DALRD3 ARX B3GALNT2 UGDH GRIN2D NHLRC1 MFF TUSC3 PGAP1 SLC1A4 PDHA1 PHGDH MAN1B1 TNIK EZR GNAO1 EDC3 AP3B2 DMXL2 CCDC88A LINS1 TUBB2A DCX LMAN2L NUS1 AIMP1 SLC13A5 GABRB1 NDUFAF8 IARS2 IER3IP1 WWOX HMGCL DOLK ASNS UBA5 TRAPPC9 NF1 CASK CACNA1B MDH1 HCFC1 RSRC1 CNKSR2 GABRA5 TECR PARS2 ACTL6B GNB5 ROGDI ARFGEF2 PIGC DHDDS HP_AREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA_OF_LOWER_LIMBS POLG ATP6AP2 DYSF FXN ERLIN1 LIFR MAG HSPB8 MFN2 ARL6IP1 C19orf12 DNAJC3 GNE MTMR14 PRPS1 PDK3 RRM2B ALDH18A1 SACS HINT1 SMN1 GLE1 OPA3 POLG2 RAI1 VCP TWNK MYOT ACOX1 HARS1 HSPB3 STIM1 GJB1 DNM2 SQSTM1 ATXN3 PGM3 HSPB1 SMN2 RNASEH1 MYF6 KLHL9 RYR1 BIN1 DES PLEKHG4 VPS13A GAN TCAP ORAI1 MRE11 SLC25A4 HP_CATAPLEXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CATAPLEXY DNMT1 MOG NPC2 P2RY11 TBCD NPC1 HCRT HLA-DQB1 TNFSF4 ZNF365 CTSH HLA-DRB1 HP_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FALLS DYNC1H1 DMPK FXN TTN MAPK10 CHD2 MAPT GAN PRKAR1B DNM1 ALDH18A1 NOL3 NKX2-1 ACBD5 DMD FA2H VPS13A DAB1 GABRB3 PTS SACS ORAI1 POPDC3 SCN1A SLC25A21 CUX2 LRAT HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM HTT PRNP PSEN1 PDYN GRN BSCL2 KCNT1 ATXN2 FIG4 TBP MAPT CTSD SCO2 CHMP2B NR4A2 SLC9A6 ADH1C GBA PIGA CSF1R NARS2 BRAT1 FUS ATXN8OS SNCAIP PSAP NPC1 SERPINI1 TBCD VAPB PLA2G6 POLG C9orf72 GLUD2 ZNHIT3 DNMT1 VAC14 HP_AXIAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_DYSTONIA GNAL COQ2 PPP2R2B COL6A3 HPDL ALS2 SIGMAR1 MAPT SPG11 CIZ1 FUS HP_ABNORMAL_POSTURING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTURING PRNP TIMM8A EPG5 TOR1A PANK2 ABCD4 HP_ABNORMALITY_OF_THE_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_CORTEX DCPS IQSEC1 TUFM WDR62 SQSTM1 FKRP GNB1 SMPD4 ARMC9 FDXR ADGRG1 DLL1 SF3B4 KIAA1109 LONP1 TP53RK SUZ12 FGFR1 C12orf4 BICD2 KCNA1 CEP152 MTOR FUS MFSD2A TSEN15 LARGE1 SLC35C1 VCP B9D1 ANKLE2 ARX PEX6 PIGQ NEDD4L COPB2 ZMYND11 NODAL ARHGEF9 SIK1 TBC1D20 PEX2 PIK3R2 FKTN RAC1 SNRPN GABRG2 TBC1D24 SEPSECS TAOK1 SLC12A2 KIFBP DHCR7 MYT1L POMT1 GPX4 KATNIP FRRS1L RNU4ATAC KIAA0586 NDN ASH1L EOMES CRADD B3GALNT2 CEP85L FRAS1 CRPPA TSC1 DEAF1 BMPER MAP11 PEX5 WASHC4 PAFAH1B1 PEX26 CTNNA2 PIK3CA SLC45A1 MBOAT7 SLC25A22 TBK1 PEX13 BRSK2 DYNC1I2 MLYCD DYNC1H1 COL18A1 AKT3 ACTB POMT2 PLAA VAC14 FBXO31 CASK SHMT2 C2CD3 RAB18 RAB3GAP2 WDR4 GRIK2 SARS1 RELN MCPH1 CPLX1 SCN1B BRAF FOXG1 CDH15 AHI1 NDUFS2 FTO DHX37 ERCC1 GABRD NARS1 KIF5C NFIX GMNN LAGE3 ODC1 PEX3 WDR73 KIF1A KIF2A DOCK8 SUFU CAMTA1 CEP104 CDKL5 ZC3H14 PEX14 RAB11A MED12L CCND2 STXBP1 NSUN2 KDM5B GRIN1 STIL PDHB MN1 PIGB POMK RECQL4 LAMB1 PI4KA TUBB2B CSPP1 YWHAE SRPX2 TUBB3 DISC1 CLTC COL4A1 PYCR2 VIPAS39 PHC1 TSC2 ASPM FDFT1 COL3A1 HIVEP2 GMPPB MED25 KATNB1 LAMC3 NDUFAF3 TCTN1 PPP3CA ETFDH IFNG TRPM3 ACTG1 ERMARD PGAP1 LAMA2 ZEB2 PDHA1 TUBA8 MAN1B1 SCN2A SLC5A6 PEX10 B4GAT1 EDC3 POLR3A DONSON DMXL2 TRAIP GLI2 GAS1 TUBB2A DCX LMAN2L CENPJ DEPDC5 HSD17B4 TARDBP GNAO1 GRIN2B TMEM237 KCNQ5 ATP6V1A CAMK2A RAB3GAP1 KIRREL3 ARHGAP31 OCA2 CEP120 OSGEP ST3GAL3 ADGRV1 SLC35A2 NDUFB8 MACF1 POMGNT1 EEF1A2 DAG1 SCN3A ASNS WDR26 SET RSRC1 PIBF1 CDON CIC TAF13 SLC25A19 EXOC7 TECR CIT DCHS1 DDX3X ATP6V1E1 ATP6V0A2 PLK4 ZIC2 SHH PIGC PPP1R12A KIF11 TSEN2 SPOP VPS33B PEX11B SURF1 TCF4 RPGRIP1L GCDH COG6 USP9X DOCK6 NUP133 PTCH1 CLIP1 HCN1 TUBGCP6 INPP5E DISP1 MAPK8IP3 MBD5 RXYLT1 ZNHIT3 CDK6 NDST1 WT1 MAGEL2 MED23 HYLS1 OCLN ETFB CRBN PC CDK5RAP2 CSNK2B POMGNT2 USP18 TPRKB TRRAP CACNG2 GFM2 SIX3 PRSS12 VPS37A PEX1 SCN9A PNKP PHGDH CAMK2B ATR CENPE FIG4 KNL1 FMN2 FGF8 SASS6 STX1B ATN1 ASCC1 FOXH1 PRKDC TMEM67 TCTN2 CHCHD10 APC2 PSAT1 SON CLP1 SNAP29 ARL13B FAT4 ISCA1 TSEN54 TUBGCP2 EML1 TUBG1 CEP41 CCBE1 CDK13 METTL23 EPB41L1 NEUROD2 RTTN CTU2 DHCR24 SYNGAP1 MAP1B DLK1 CEP135 CPLANE1 VLDLR ETFA EIF2AK2 ADAMTS3 CEP63 PEX12 NCAPD3 CC2D1A SRD5A3 QARS1 GPHN MKS1 NSDHL PIGP PEX19 HNMT AHDC1 CUL4B TUBA1A TRIM8 CDK5 KIF14 PTEN NDE1 TGIF1 TMTC3 TUSC3 METTL5 TNIK MEG3 EZR NPRL2 SIN3A RTL1 TDGF1 CCDC88A PEX16 LINS1 PLP1 ZNF335 MECP2 TBR1 NPRL3 AIMP1 NPHP1 STS FH XRCC4 CPT2 NEK1 IER3IP1 MPDZ ARL3 FLI1 IBA57 TUBB TRAPPC9 TSEN34 SCN1A TMX2 PAX6 GPSM2 CUX1 C9orf72 CHAMP1 RMND1 ATXN2 SMO CSNK2A1 OFD1 NUP107 KLHL15 CNTNAP2 SCO2 TBL1XR1 HIC1 HP_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_DYSPLASIA DCPS NSUN2 IQSEC1 TSC1 FIG4 FMN2 NPRL3 AIMP1 ADGRG1 WASHC4 STX1B SLC45A1 ARHGAP31 TUBB2B MBOAT7 TUBB3 CC2D1A ST3GAL3 FGFR1 ADGRV1 SLC35A2 C12orf4 COL4A1 NUP133 TUBB CLIP1 HCN1 TSC2 HNMT ASNS TRAPPC9 CUL4B DLL1 RSRC1 NEDD4L NDST1 ASPM FBXO31 MED25 SNAP29 TUBG1 SCN1A MED23 GRIK2 B3GALNT2 SARS1 GABRG2 METTL23 SLC12A2 TUSC3 PGAP1 MTOR CRBN TECR MAN1B1 TNIK EZR FRRS1L RTTN GABRD B4GAT1 NPRL2 DDX3X KIF5C SIN3A EDC3 PRSS12 KIF2A KDM5B VPS37A LINS1 PIGC TUBB2A CRADD ZC3H14 SCN2A SCN9A LMAN2L CNTNAP2 SCN1B DEPDC5 HSD17B4 HP_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INABILITY_TO_WALK LRP5 NODAL CACNA1G PGAP3 ATP6AP2 UNC80 GNB1 MAPT PODXL MFN2 LONP1 KCNQ2 SLC9A6 GMPPB SLC6A17 EXTL3 SPATA5 FCSK CTBP1 DISP1 ABCD1 ASXL3 STAC3 ALDH18A1 EPM2A MT-ATP6 VPS33A TGIF1 SIX3 MAPK8IP3 NTNG1 CACNA1B FUS PYCR2 MRPS34 FOXRED1 HACE1 GTPBP2 POMT2 AP4B1 GRIN1 MSTO1 MAGEL2 DARS2 DES TBCK WDR45B ST3GAL3 VPS13A VPS51 PIGP SLC1A2 SMC1A DNM1 SHH NTRK2 TELO2 PLEC OTUD6B FXN ADAR GLI2 TWNK CTNNA2 NEU1 MYOT TFG GFM2 PPP2R1A ATN1 GALC MBOAT7 NGLY1 TRAPPC11 KCNJ10 FAM126A LMX1B MEF2C GABBR2 CHRND DYNC1I2 STAG2 SDHAF1 AGTPBP1 CPLX1 SDHA GOT2 HINT1 CRAT GPAA1 CDON GLE1 NUP62 ADSS1 STRADA PTCH1 DLL1 GAS1 DHX30 UQCRQ SLC39A14 SIGMAR1 FOXG1 C12orf65 MAST1 AIMP2 RNASEH1 KLHL9 GABRA2 FGF12 VAMP2 SMS ERBB4 NEB GRIA2 TUBB3 FGFR1 UBTF FOXH1 VAC14 ZIC2 ADSL TDGF1 PIEZO2 EIF2AK2 INTS1 EPRS1 EIF2S3 DNAJC6 ASAH1 ARL6IP1 DOCK7 SDHD HSD17B10 GDAP1 SLC2A3 TRIM2 MECP2 RHOBTB2 HNRNPK CACNA1E FA2H POMT1 ALS2 NEUROD2 LARGE1 MED25 SLC39A8 CAMK2A MDH2 P4HTM SERAC1 CAMK2B TMEM107 GABRB2 PLP1 SLC1A4 NHLRC1 MFF NTNG2 PIGS ZEB2 ATP8A2 HK1 PDHA1 SUCLA2 ZC4H2 PANK2 RPL10 SLC17A5 ERLIN2 GRIA4 SNX14 FGF8 SLC16A2 REPS1 STXBP1 KY DYSF TBR1 MPZ CLN3 GNPTAB DNM1L CLIC2 GSX2 HTT FAR1 ASPA LYST DMPK KIF1A MFSD2A TRAPPC2L CDKL5 TSEN15 SLC25A4 AP4S1 SLC35A2 SCN3A DNAJB6 SYT1 SPG11 SLC2A1 TBC1D23 GEMIN4 GLRX5 SLC19A3 SLC12A5 ATP6V1A ACTL6B TIMM8A FLNC LAMA2 BVES SDHB INTS8 VARS1 SYNJ1 RRM2B CACNA2D2 DCPS TK2 MT-TE CRPPA FARS2 MORC2 SELENOI FKRP LNPK ATAD3A SEC31A HP_OLIVOPONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_ATROPHY ERCC6 ATXN1 TTC19 COQ2 ATXN7 ATXN2 MBTPS2 HP_RETROCOLLIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROCOLLIS KMT2B ALS2 SIGMAR1 MAPT SPG11 PRKRA FUS HP_INCOMPREHENSIBLE_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPREHENSIBLE_SPEECH CC2D1A GRIN2A FOXP2 SETBP1 GATAD2B FXN SRPX2 SATB2 HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION TK2 MAPT PDE10A GIGYF2 POLG EIF4G1 LRRK2 TH PLA2G6 UCHL1 VPS35 PARK7 DNAJC13 TAF1 SNCA GCH1 ATP13A2 GBA HTRA2 FBXO7 HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY RNASEH1 MAPT GSN PRNP RRM2B HP_ABSENT_FACIAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FACIAL_HAIR TP63 SOX18 EDA KRT85 ZMPSTE24 LMNA MBTPS2 BRAF POLR1C TWIST2 PHGDH ODC1 HOXC13 POLR1D NECTIN4 AR LRP1 ZBTB20 ANAPC1 GJB2 HR RIPK4 FRAS1 TCOF1 PKP1 HP_HIGHLY_ARCHED_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGHLY_ARCHED_EYEBROW KDM6A HSPA9 PIGW COLEC10 PUF60 CDH11 FOXL2 PGAP3 SMPD4 ARMC9 STRADA ABCC9 TMEM231 PIGV RPGRIP1L SPATA5 MKS1 MEIS2 MYT1L ASXL3 CYFIP2 MAPK1 B9D1 TRMT1 INPP5E ACTL6B SMC1A MBD5 ANKRD11 KIF7 FBXW11 CPLX1 FAM20C HDAC8 ARL3 KCNK9 RAC1 NUP188 ZNF462 MEGF8 MED13 FAM149B1 NSD2 KATNIP ACTL6A TANC2 BCOR CPLANE1 TRRAP RAD21 SETD5 PDE6D EP300 SEMA3E RPS6KA3 OFD1 RPS23 MAN2B1 BCR OTUD6B DOCK3 TMEM67 AUTS2 CC2D2A DDX6 COX7B KIAA0753 TMEM138 SPECC1L LMX1B NELFA TCTN2 CLP1 RUSC2 TMEM237 ARL13B KMT2D MASP1 TGDS ACTB SHMT2 GAD1 PIGL CEP41 CHSY1 NTNG1 TCF20 SMARCA2 AHI1 CHST3 FAR1 CTU2 CEP104 ECEL1 ZMIZ1 SMC3 HYLS1 STAG2 KIFBP PACS1 IGF1R MN1 NIPBL CSPP1 PGAP2 LETM1 TMEM216 KMT2E HDAC4 TMEM94 VPS35L EHMT1 PUS7 ASPM TCTN1 CRKL SVBP ACTG1 ERMARD SOX11 PIGS ZEB2 CREBBP CTCF COLEC11 PIGY KMT2A SLC45A1 SZT2 C12orf57 STXBP1 KIAA0586 ADAT3 CAMK2G TAF6 NPHP1 RLIM KDM1A ZNF423 CDC42 CTBP1 BPTF CEP120 CHD7 MESD MADD KAT6A FGFRL1 PSMD12 AFF4 PIBF1 TBX4 PPP2R3C PIGO BCORL1 NECTIN1 TASP1 TRIO TWIST2 TBCK FRMD4A TFAP2B UGP2 TCTN3 LRPPRC WDFY3 ASXL2 CSNK2A1 CEP290 TRAPPC4 TMCO1 SPOP HP_ABSENT_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PUBIC_HAIR AR EPS8L3 GJB6 GNRH1 NR5A1 HP_HYPOPLASTIC_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_NIPPLES TP63 IKBKG CHRNG HDAC8 UBR1 TBX3 EDA EDARADD MEGF8 NIPBL PIGL CCDC47 SLC25A24 PTPRF TWIST2 SMC1A MEG3 SETD5 KDM6B USP9X KMT2A GNE RTL1 TUBB WNT7A KIF15 ANTXR1 RAD21 DLK1 SMC3 PORCN SETBP1 HP_SUPERNUMERARY_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_NIPPLE KDM1A PIGW DHODH COLEC10 PPP2R5D TCF4 GPC3 PGAP3 RNF216 GPC4 ARHGAP31 PGAP2 COLEC11 PNPLA6 HNRNPK HDAC4 ASXL1 CDH2 MASP1 PORCN TP63 CSPP1 PIGV PIGO DDX6 ACTB MDH2 IKBKG PIGL KRAS MEGF8 ZEB2 CKAP2L KIAA0586 TRRAP PIGY TFAP2A KLHL7 TFAP2B TMCO1 NONO HP_ABSENT_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_NIPPLE FIG4 TP63 TWIST2 CDH11 EDA SLC25A24 EDARADD PTPRF HP_LOW_SET_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SET_NIPPLES ERCC2 GTF2H5 PIGL MPLKIP TARS1 GTF2E2 KAT6A ERCC3 RNF113A HP_INTESTINAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_MALROTATION NME8 ABL1 CHRM3 SPAG1 KDM6A RPGR CFAP300 TBX1 DNAH5 NIPBL RSPH4A SMO DNAAF5 SPINT2 MYRF EP300 SALL4 MKS1 CCDC151 ZFPM2 FARSB RFX6 NPHP3 FLNA COMT CCDC40 DYNC2H1 LETM1 PIGN CHST14 HYDIN CCDC22 UFD1 HMGA2 ARID1B FOXF1 ASXL1 AMER1 LRP2 CCDC114 PORCN LEMD3 FGFR2 CPLX1 LRRC56 HDAC8 SEC24C CCDC103 WNT4 ZMYND10 NSD2 CREBBP DHCR7 CLMP CFAP221 CCNO DNAAF6 RREB1 LMOD1 SPEF2 BCOR CFAP298 GATA6 KMT2A LRRC6 DRC1 SETD5 TFAP2A HIRA ACTA2 FBN2 STK36 RSPH9 TTC7A NEK10 CCDC65 DNAAF4 CENPF DNAAF2 DHODH RSPH1 GAS2L2 TTC12 GAS8 SLC12A2 GPC3 KAT6A EYA1 TTC25 GPC4 DSE WASHC5 NEK1 CTBP1 GP1BB ARVCF MED12 SMC1A ARMC4 DNAL1 DNAH11 FGFRL1 FLI1 DNAH9 KMT2D ISL1 NOTCH2 DNAI2 SIX1 MMP21 DNAAF1 FLNB DNAH1 DNAJB13 MCIDAS HNRNPU MYH11 LBR MYLK FOXJ1 TP63 KLHL7 CFC1 OFD1 CCDC39 RSPH3 JMJD1C DHCR24 DNAI1 RAD21 SMC3 ACTG2 DNAAF3 UBE3B HP_STEATORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEATORRHEA SLC7A7 SLC10A2 AKR1D1 SHPK SBDS SPINK1 EFL1 CTRC BAAT PRSS2 CCDC47 PRSS1 ANTXR2 CLMP SRP54 CYP7B1 LIPA DNAJC21 ACOX2 CFTR SAR1B EIF2AK3 COX4I2 PNLIP PTRH2 MTTP HSD3B7 PEX12 TJP2 PTF1A LBR EPHX1 HP_ACHALASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHALASIA AAAS IARS2 SAMD9 GUCY1A1 IVNS1ABP GMPPA FLVCR1 ACTB GLA COL4A5 TRAPPC11 STAT3 COL4A6 HP_EPISODIC_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_VOMITING MT-ND4 PDSS2 NFIX MT-TW MT-TC MT-TS2 MT-ND1 SLC25A15 MT-CYB MT-TL1 ARG1 KRIT1 CPOX MT-CO3 SHANK3 HMGCL HNRNPK CDK8 MT-TV MT-ND5 PDCD10 MT-TQ ZEB2 MT-ND6 MT-TF MT-ATP6 ALG11 NOTCH2NLC MT-CO2 MT-ND2 COQ2 SLC5A6 CCM2 GK MT-ND3 MT-CO1 PNPLA8 MT-TK D2HGDH NLRC4 HP_HEMATOCHEZIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOCHEZIA BMPR1A GREM1 SMAD4 APC PLVAP WAS ACVRL1 ENG TTC7A PTEN IL10RA F5 WIPF1 HPS1 HP_EPISODIC_ABDOMINAL_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_ABDOMINAL_PAIN SDHD MRAP TMEM127 HEXB SDHA MAX F12 SLC25A11 DNMT3A SDHAF2 FH MDH2 SDHB NF1 VHL CDC73 MEFV FLI1 ATRX STAR RET NNT CDKN1B DAXX CPT2 EPAS1 TXNRD2 LPL MC2R SDHC GNE DLST KIF1B ESR1 HP_TRACHEOESOPHAGEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOESOPHAGEAL_FISTULA CLIP2 WNT7A CYBC1 TINF2 TBL2 NPM1 SOX3 FGF20 FANCI POLR1C FGFR1 XRCC2 TERC CHD7 BRCA1 BRCA2 HOXD13 PROKR2 CYBB FANCD2 RET RTEL1 CYBA FANCC ARNT2 RAD51C FOXF1 SLX4 FANCL GREB1L BRIP1 NCF1 TCOF1 TERT FANCB USB1 BAZ1B LIMK1 SOX2 ELN OTX2 ITGA8 SLC12A2 GTF2IRD1 NCF2 NOP10 FANCE GTF2I PDGFRB MYCN FANCM UBE2T RFWD3 FANCG POLR1D FANCA CTC1 RFC2 PALB2 SPECC1L MAD2L2 WRAP53 PARN NHP2 SEMA3E ERCC4 HESX1 ZIC3 RAD51 FBN2 NOTCH3 NCF4 DKC1 FANCF HP_INTUSSUSCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTUSSUSCEPTION PDGFRA SMAD4 BMPR1A GREM1 STK11 ARID1B PTEN HP_ABNORMAL_STOMACH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STOMACH_MORPHOLOGY CLIP2 PEX11B TBX3 APC TCF4 BUB1B AXIN2 ATP7A PRKAR1A ARFGEF2 DMD CAVIN1 LAMB3 GDI1 CTLA4 SH2B1 TTC37 MTMR14 FAS TP53 COL5A2 FLNA CHST14 ARID1B GLRB BAP1 CARD8 PEX6 CDKN2B PTPRJ CDH1 BUB1 PPP2R5D PIEZO2 RIPK1 NUP133 PEX2 HDAC8 TNXB ITGB4 OTC ARHGEF6 ARF1 GBA ZEB2 GTF2IRD1 NCF2 RPS6KA3 MLH1 GTF2I DLC1 DHCR7 COL1A1 ABCC2 FBLN5 MYF6 TPRKB RFC2 PRKCD LAMA3 RYR1 TMTC3 NEFH PLEC DLG3 KRAS IL1B BCR CYBC1 TBL2 DHODH PEX5 NPHS1 PEX26 AURKA CASP10 MITF GLRA1 UPF3B PEX13 MED12 SMC1A SETD5 SUFU CHEK2 MAP3K7 USP9X CYBA IQSEC2 BAX SLC2A10 SKI SKIV2L MLH3 NCF1 HRAS VAC14 LIMK1 WDR4 MTM1 CCBE1 FGFR3 POT1 RASGRP1 DNM2 AIRE SRC KANSL1 MSH2 NAA10 COL18A1 ACSL4 MGMT MSH3 SPECC1L BIN1 PEX3 WDR73 COL5A1 MDM2 PIK3CA MAP1B BLM PTCH2 SMC3 EFEMP2 PEX14 FASLG ADAMTS2 TREX1 BCL10 ERGIC1 LBR ADAMTS3 PDGFRL LAMC2 CISD2 NIPBL PEX12 CBLIF CDKN2A ZNF81 GPHN PAK3 AKT1 NEK9 CTNNB1 BCOR PEX19 TERT SDHB SYP MECP2 PLA2G4A PORCN IL1RN MID2 GLIS3 CRKL BUB3 MSH6 FIG4 SMAD4 FLCN AGTR2 ZNF711 ACD PEX10 TP53RK MAPK1 CNKSR2 KCNAB2 PRDM16 KMT2A LRBA ENG KIT TFAP2A PEX16 CEP57 PTCH1 BMPR1A SLC6A5 NEDD4L CLCN4 ATAD1 ALDH18A1 NRAS ALG13 FGFR2 MCC LTBP4 CDK4 ZNF41 ERMARD CCND1 STS RNF43 FOXP3 PTCHD1 TSPAN7 OSGEP RAB39B DCC CYBB SLC9A7 FAT4 FLI1 SERPINH1 HNF1B LAGE3 FRMPD4 HDAC4 DYRK1A USP27X ARX CXorf56 DLK1 PPP2R3C TGFB3 ITGA6 BAZ1B ELN GABRD RPS20 SDHC TRIP13 STK11 WFS1 MC1R TERF2IP PLA2G2A SDHA RAD54B IL1RAPL1 PEX1 TLR2 FTSJ1 PTPN12 SEMA4A HCFC1 EP300 RAD21 MEG3 NCF4 NUP107 PDGFRA HNF4A RERE RTL1 HP_GASTROPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROPARESIS POLG PINK1 MAGEL2 VPS13C NDN POLG2 EIF2AK2 SNRPN ATP7A TYMP TWNK UCHL1 HTRA2 OCA2 HNRNPK DNAJC6 SNCA PODXL TMEM70 LRRK2 PRKN SON RRM2B PARK7 SYNJ1 SLC25A4 HP_GASTROINTESTINAL_DYSMOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_DYSMOTILITY NUTM2B-AS1 AAAS TP53 CDK4 MT-ND5 DMPK HMBS IVNS1ABP WFS1 SLC6A8 GMPPA BRCA1 MDM2 KRAS TYMP ACTB FOXP3 TWNK CPOX TRAPPC11 FCGR2A CFTR HSD17B10 DDIT3 CAVIN1 TXN2 TGFB1 IARS2 FLNA SON POLG PALB2 SOX10 MT-ND6 HNRNPK MT-ND1 RAD21 RRM2B COL4A5 MT-TF C12orf65 ACTG2 IDS STAT3 FUS B2M FAH SAMD9 FLVCR1 MT-TW CDKN2A MT-CO3 MT-TL1 GLA HMGA2 DHCR7 CLMP MT-TQ MT-TH LMOD1 MT-ND4 TANGO2 MT-CO1 MYH11 MYLK GUCY1A1 EWSR1 PALLD BRCA2 ACTA2 SMAD4 MT-TS2 WT1 MT-CO2 GUCY2C COL4A6 PPOX HP_VOLVULUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOLVULUS SETD5 CHRM3 HDAC8 KMT2A DIS3L2 PACS1 ATRX TEK RAD21 VPS51 FOXF1 SMC3 NIPBL SMC1A HP_CHRONIC_ATROPHIC_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ATROPHIC_GASTRITIS LRBA KRAS CDH1 IL1B IL1RN AIRE CTLA4 HP_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLITIS ZAP70 CIITA STAT1 MST1 TNFAIP3 ELANE IVNS1ABP IL10RB STXBP2 FOXP3 CASP10 TTC37 RFXANK NCF4 CARMIL2 FAS RFXAP MASP2 MAP3K7 CARD8 RFX5 IL10RA SKIV2L INAVA NOD2 RTEL1 PSTPIP1 RASGRP1 FCN3 OPLAH CYBC1 TGFB1 GPIHBP1 IL6 RET PRKCD LRBA BACH2 XIAP PLCG2 TCF4 GPR35 FERMT1 NLRC4 FASLG HPS1 POLA1 HP_INTESTINAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_BLEEDING STK11 APC TEK CTC1 BMPR1A PTEN HP_ABNORMALITY_OF_THE_PERITONEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERITONEUM STAT6 SLC29A3 TP53 MEFV ELANE CFB BRCA1 CDKN2A KRAS F5 BCL6 NAB2 F10 SERPINE1 PALB2 EWSR1 PALLD JAK2 BRCA2 TNFRSF1A MVK BCL2 ELP1 SMAD4 TTC7A HLA-DRB1 WT1 HP_PERITONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONITIS MVK MEFV ELANE CFB BRCA1 JAK2 F5 TNFRSF1A HP_DUODENAL_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ULCER MEN1 CDKN2C PLA2G4A EP300 CDKN1B CDKN1A PLG CDKN2B ARID1B HP_GASTROINTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_ATRESIA CHRM3 FGFR2 WDR35 TGIF1 ERGIC1 ITGB4 ZIC2 SHH BUB1B FGFR1 SOX3 STAG2 GLI2 MIR17HG SPINK5 GAS1 SIN3A SIX6 RFX6 RFWD3 FGF8 PROKR2 SIX3 CHD7 DYNC2H1 FLI1 PIGN SOX2 RMRP TTC7A ARNT2 DYNC2I2 FOXF1 RAD51C FANCL CDON TDGF1 BUB1 KDM3B ITGA6 DIS3L2 BUB3 EFTUD2 DISP1 OTX2 FANCD2 IFT80 TRIP13 FOXH1 SALL1 MYCN DLL1 FANCB RTTN ERCC4 PTCH1 PORCN NODAL PLEC CEP57 HESX1 RERE FBN2 PPP1R12A PAH SEMA3E YY1 SMARCD1 CENPF DYNC2I1 DYRK1A SUFU TCTN3 HP_POLYPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYPHAGIA HTT SETD2 SATB2 PSEN1 MC4R MN1 MAN1B1 SLC3A1 OCA2 ITPR3 ALMS1 SLC2A3 PWRN1 HNF1A LEP LEPR SIM1 GNAS SNRPN HERC2 SH2B1 MKRN3 SNORD115-1 BSCL2 ADNP POMC PREPL NTRK2 NDN SKI AGPAT2 MBD5 PWAR1 ATP10A MAGEL2 SLC5A2 PTPN22 CTNNB1 GABRD GRN BRAF MAPT KCNAB2 PRDM16 IL6 GPR101 NPAP1 MEN1 PCSK1 UBE3A SNORD116-1 RERE HP_GASTRIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRIC_ULCER WFS1 ERGIC1 PLA2G4A CISD2 ARID1B GBA HP_PANCREATIC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_HYPOPLASIA APPL1 SLC29A3 GCK PDX1 GLIS3 PTF1A KCNJ11 HNF1B EFL1 GATA6 CEL NEUROD1 DNAJC21 HNF4A RFX6 STAT3 EIF2AK3 HNF1A INS SBDS KLF11 PAX4 ABCC8 BLK SRP54 HP_ILEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ILEUS TGFB1 SLC6A8 FAH HMBS EWSR1 SOX10 FOXP3 C12orf65 WT1 FCGR2A CFTR GUCY2C CAVIN1 PPOX HP_HEAD_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TITUBATION LAMA1 GJC2 EIF2AK2 UCHL1 VPS13A HIBCH ALS2 SIGMAR1 NKX6-2 SPG11 TMEM63A KIF1C PLP1 FUS HP_HYPOREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA_OF_LOWER_LIMBS HSPB3 STIM1 ATP6AP2 DYSF ADSS1 MAG HSPB8 FLRT1 LDB3 IFRD1 FLNC MYH7 IBA57 HSPB1 FBLN5 LMNA HADHA RUBCN HADHB FASTKD2 DYNC1H1 PRKCG DES GAN KLC2 ATL3 MYOT CRYAB FBXO38 HP_HEPATIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_NECROSIS SDHA ETFB HADH ETFA SDHD CTNNB1 ETFDH MET ACADVL DGUOK NHLRC2 HP_CELIAC_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELIAC_DISEASE SATB2 MST1 IL12A SPIB SRCAP IRF5 TNPO3 TNFSF15 IVNS1ABP ELN MLXIPL MMEL1 TCF4 ODC1 GPR35 IL12RB1 STAT3 POU2AF1 STAT5B WAC HP_CHOLESTATIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTATIC_LIVER_DISEASE VPS33B DHCR7 SHPK VIPAS39 HSD3B7 NEUROG3 HADHA NOTCH2 CYP7B1 CCDC115 AKR1D1 HP_CONGENITAL_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEPATIC_FIBROSIS RPGRIP1L WDR35 TMEM107 DLL4 TMEM67 CC2D2A NPHP1 INVS TMEM216 INPP5E CEP164 TRAF3IP1 WDPCP TMEM231 ARHGAP31 DYNC2H1 DOCK6 DOLK RPGRIP1 EOGT DYNC2I2 NPHP4 MKS1 CSPP1 WDR19 DZIP1L NOTCH1 CEP55 MPI TCTN2 RBPJ SLC40A1 HAMP CEP290 IFT80 PKHD1 B9D2 SDCCAG8 PNPLA6 NPHP3 HJV IQCB1 DYNC2I1 CYP7B1 B9D1 HP_BILIARY_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_CIRRHOSIS CLCA4 TGFB1 NPHP3 IL12A SPIB WDR35 IRF5 TNPO3 TNFSF15 PKHD1 DCDC2 STX1A DCTN4 CFTR MMEL1 IL12RB1 FCGR2A LBR POU2AF1 HP_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTENSION ACAT1 IL12A CYP11A1 ARSA PROP1 CD46 CHCHD2 GMPPA DHPS STAR KCNJ1 LEP SPIB COL5A2 CYP11B2 CASR VPS35 SLC25A20 DNAJC13 KYNU SIM1 AAAS CDH23 DDC SERPINA6 CYB561 ELP1 DBH PDE4D MMEL1 POU1F1 ACE RYR1 SFTPC GNA11 AGTR1 B2M HEXB SCNN1G CFI TBX19 ABCA3 MUC1 REN VHL GSN COL1A1 SCNN1A TTR CLCNKB SRSF2 TET2 SNCA AGT FMR1 ALB COQ2 IL12RB1 CFH HESX1 DCTN1 LHX4 HSD3B2 ASXL1 SLC12A1 LMNB1 SERPING1 POU2AF1 AIP MEN1 CHRNA3 DAXX TXNRD2 HMGCL CAV1 PRKAG2 RUNX1 SOX3 NR3C2 MRAP IRF5 TNPO3 TNFSF15 FOXA2 SLC12A3 GIGYF2 EIF4G1 PSAP ATRX NTRK1 GLI2 NNT SFTPB COL5A1 LEPR GBE1 LRRK2 CBL OTX2 HELLPAR NFKB2 SCNN1B MC2R GBA ATP7A SAA1 HP_AORTIC_ROOT_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ROOT_ANEURYSM PKD1 DOCK3 MAT2A DDX6 RLIM ERCC6 FBN2 TGFBR2 AEBP1 ROBO4 BPTF ERCC8 KCNH1 MYH11 TPM3 PRKG1 PIGN CYP17A1 COL5A2 KMT2E DNMT3A MYT1L COL3A1 ENG LMNA BICC1 ACTA2 TPM2 FBN1 CARS1 PSMD12 TRMT1 AFF4 THSD1 SLC2A10 ACTL6B CYP11B1 SMAD4 B3GALT6 BCORL1 FBXW11 MFAP5 PGM3 TGFBR1 LOX GANAB SVBP MED13 B3GAT3 NTNG1 TCF20 CHST3 KANSL1 TGFB2 SMAD3 COL1A1 COL1A2 POR ACTL6A FOXE3 TANC2 ANGPTL6 MYPN ELN COL5A1 TGFB3 PKD2 WDFY3 TGFBR3 ZMIZ1 TRAPPC4 MYLK NKAP HP_VASCULAR_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_DILATATION NOD2 RNASEH2B STAT1 CLIP2 MYH11 UBR1 ATP7A ERCC6 FBN2 TGFBR2 ARFGEF2 PKP2 KCNH1 MKS1 TPM3 PRKG1 FARSB CAVIN1 PEX12 COL5A2 SAMHD1 MYT1L FBN1 ELN ACTA2 TPM2 SMAD4 TRMT1 KANSL1 ACTL6B CYP11B1 TGFBR1 RAI1 EXT1 B3GALT6 FBXW11 PGM3 ARF1 PTPN22 MED13 FMR1 GTF2IRD1 GATA5 GTF2I PTEN SMAD3 COL1A1 NDE1 FBLN5 PKD1 ACTL6A ZMPSTE24 TANC2 RFC2 MYPN TMTC3 IL12B MYLK STAT3 GMPPB SEMA3E FLNB TGFBR3 NKAP BCR ADAR BRF1 TBL2 NKX2-5 DOCK3 SEC61A1 DDX6 ROBO4 COL4A1 PIGN COL3A1 SALL4 GGCX BICC1 CARS1 SLC2A10 SKI C12orf57 GANAB RYR2 LIMK1 MFAP5 SETD2 NTNG1 TCF20 CHST3 MYH3 ENPP1 COL1A2 MNX1 GAA RIN2 TGFB2 PLOD3 LOX RNASEH2C COL5A1 PKD2 MAP1B ZMIZ1 EFEMP2 IFIH1 CHRNG NOTCH1 MLX ENG MAT2A PCNT RASA1 CYP17A1 KMT2E DNMT3A SMAD6 LMNA TSC2 HNRNPK HGD MARS2 NF1 OFD1 CRKL SVBP BGN B3GAT3 APC2 NPPA TREX1 RPL10 TMEM67 POR FOXE3 ABCC6 MAPK1 KCNAB2 PRDM16 SOX10 ANGPTL6 TGFB3 WDR19 MED12 PAM16 EXT2 BRAF NEDD4L PRKCSH PTPN11 LTBP4 ERMARD PIGY RLIM RNASEH2A AEBP1 BPTF ERCC8 CHD7 SLC25A24 FLNA NSD1 NSMCE2 TSC1 PRKAR1A PSMD12 AFF4 THSD1 TAB2 BCORL1 BAZ1B SEC63 HLA-B GABRD ALDH18A1 PBX1 CRB2 RAF1 LRP5 EPHB4 WDFY3 TRAPPC4 PLOD1 RERE HP_VARICOSE_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARICOSE_VEINS SLC29A3 SMAD3 SEC24C ENG SLC12A3 TBX1 VEGFC GBA GJC2 VHL PIEZO1 AEBP1 EPHB4 GP1BB RASA1 PIK3CA ARVCF RREB1 CLCNKB NOTCH3 COMT G6PC3 COL3A1 FLT4 UFD1 FOXC2 HIRA FIBP JMJD1C KIF5A HP_OVERRIDING_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERRIDING_AORTA BAZ1B FGFR2 CLIP2 LIMK1 ELN TGDS RFC2 TBL2 HCCS COX7B GTF2IRD1 GTF2I NDUFB11 NEK9 RAI1 HP_ABNORMAL_VENOUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENOUS_MORPHOLOGY NME8 SPAG1 MST1 GLMN PPARG RPGR CFAP300 ENG TBX1 VEGFC DNAH5 ATP7A RSPH4A DNAAF5 PTEN KRIT1 PPP1R15B RASA1 CCDC151 NDP GNAQ COMT CCDC40 FLT4 HYDIN UFD1 POLR3A FIBP CCDC114 COL3A1 FADD MED25 AGGF1 RAI1 FOXC2 PDCD10 KDM3B SLC29A3 LRRC56 SEC24C CAV1 CCDC103 GBA ZMYND10 VHL PROC PIEZO1 CFAP221 EPHB4 CCNO PIK3CA DNAAF6 RREB1 SPEF2 CFAP298 LRRC6 DRC1 BSCL2 AKT1 HIRA ANTXR1 KIF5A STK36 RSPH9 AGPAT2 NEK10 CCDC65 GPR35 DNAAF4 DNAAF2 MSX2 RBM10 SRCAP PRKACB ATP6V1A RSPH1 TMEM260 GAS2L2 TTC12 GAS8 TTC25 PRKCD AEBP1 GP1BB SLC25A24 ARVCF ARMC4 DNAL1 DNAH11 CLCNKB ATP6V0A2 G6PC3 DNAH9 COG4 PROS1 ALX4 DNAI2 PTDSS1 FOS SMAD3 MMP21 SLC39A13 SLC12A3 DNAAF1 LMNA GJC2 DNAH1 UQCRFS1 CAVIN1 UBE2A DNAJB13 MCIDAS CCM2 NOTCH3 ATP6V1E1 SMOC1 TEK FOXJ1 OFD1 CCDC39 RSPH3 JMJD1C DNAI1 PYCR1 TCF4 PLOD1 DNAAF3 HP_DEEP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_VENOUS_THROMBOSIS HABP2 PLAT PROC SERPIND1 F5 MTHFR MMACHC THBD F9 AKT1 MTRR UBA1 PIEZO1 PROS1 SERPINC1 F13A1 PMM2 F2 HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING STRA6 DGCR8 DGCR6 TBX1 ESS2 DGCR2 CRELD1 HP_FAT_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAT_MALABSORPTION SLC7A7 SLC10A2 AKR1D1 SHPK SBDS SPINK1 EFL1 CTRC BAAT PRSS2 ATP8B1 AMACR CCDC47 PRSS1 ANTXR2 ABCB11 CLMP SRP54 CYP7B1 LIPA DNAJC21 PKHD1 ACOX2 CFTR SAR1B EIF2AK3 COX4I2 PNLIP PTRH2 GPC1 MTTP HSD3B7 PEX12 DZIP1L TJP2 PTF1A LBR EPHX1 HP_VASCULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULITIS NOD2 CR2 PADI4 MLX LMX1B IFIH1 TNFRSF13C ERAP1 TLR4 ARPC1B FAS CASP10 WIPF1 CD244 HLA-DPA1 SCN9A CFI WAS ACP5 MEFV TNFSF12 UBAC2 TNFRSF1A ADA2 CCR1 DOCK8 PNP NFKB2 TREX1 CTLA4 PTPN22 SCN11A STAT4 MYD88 FASLG HLA-B PGM3 MS4A1 KLRC4 TNFRSF13B IL23R DNASE1L3 RASGRP1 OTULIN SAMHD1 CD81 IL10 NLRP3 IL12A SCN10A HLA-DPB1 C4A NFKB1 PRTN3 PRKCD IL12A-AS1 CD19 IL12B SH2D1A NFKBIL1 MVK SLC22A4 XIAP CIITA ICOS HP_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOSCLEROSIS LCAT MYH11 SMPD1 CYP7A1 MAT2A PCSK9 ERCC4 ERCC6 APOB TGFBR2 LDLRAP1 GGCX PRKG1 ABCG5 APOA2 LIPC LMNA ACTA2 ABCC6 GLB1 ABCG8 SMAD4 ERCC2 CEP19 NPC2 AGXT CAT ZNF687 HTRA1 SMAD3 FOXE3 ANGPTL6 SERPIND1 LIPA ELN LDLR WRN ZMPSTE24 TGFB3 ERCC3 ABCA1 TGFBR3 FBN1 MYLK BANF1 ASAH1 ESR1 BRCC3 CSF2RB XYLT1 ERCC8 PPARG ERCC5 COL3A1 ENG APOA5 EPHX2 XYLT2 THSD1 PPP1R17 TNXB MFAP5 TGFBR1 CYP27A1 LOX CSF2RA HGD APOE SC5D ANTXR1 ENPP1 GHR SMARCAL1 TGFB2 KCNJ5 NPC1 ALMS1 HP_BUDD_CHIARI_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUDD_CHIARI_SYNDROME CD55 JAK2 MPL F5 TET2 HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA SDHD TMEM127 SDHA MAX SDHB SLC25A11 DNMT3A SDHAF2 FH PRKAR1A MDH2 NF1 VHL RET GDNF EPAS1 SDHC KIF1B DLST HP_NEONATAL_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_RESPIRATORY_DISTRESS NME8 SPAG1 PTCD3 CHRNG SBDS RPGR CFAP300 ALDH7A1 SLC27A4 TRIP4 SMPD4 DNAH5 COX6A2 RSPH4A DNAAF5 COX14 LONP1 NR1H4 CCDC151 GLUL MTMR14 CCDC40 HYDIN FOXF1 MADD CCDC114 SOX9 FBN1 NEK10 PLAGL1 CFAP298 LRRC56 RUNX2 CCDC103 PLCB3 ZMYND10 CFAP221 SRP54 PDHA1 CCNO RSPH3 ABCB11 HYMAI DNAAF6 GALK1 SPEF2 DNAJC21 MYF6 NKX2-1 LRRC6 RYR1 DRC1 ITGA3 COLQ STK36 RSPH9 CCDC65 SFTPB DNAAF4 DNAAF2 ABCB4 SNRPB RSPH1 PIK3CD GAS2L2 CANT1 TTC12 GAS8 ALG14 FOXJ1 NPHS1 KAT6A TTC25 CPT2 RNF168 ASCC1 ARMC4 DNAL1 DNAH11 MLYCD DNAH9 MT-TT LAMB2 TOR1A RALGAPA1 DNAJB13 DNAI2 TRAF7 ATP8B1 SHPK MTM1 DNAAF1 GRM7 DNM2 DNAH1 MYH3 CUL7 MCIDAS SUCLG1 BIN1 SCN4A KNSTRN PLEC OFD1 CCDC39 ZC4H2 DNAI1 DPM2 NDUFB10 CSGALNACT1 SPOP DNAAF3 UBE3B HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY WDR35 KDM6A CLIP2 EXT2 COMP COL2A1 NODAL NFIX PUF60 VCP SOX4 GPHN EVC AP4M1 XYLT1 COL6A1 SF3B4 RMRP BRCA1 IRF5 BICD2 DISP1 CEP152 CCDC22 ACP5 THOC2 GLB1 CREBBP MAGEL2 B3GALT6 KIF22 HDAC8 GLI3 SNRPN TBX15 SLC12A2 CENPJ DYM IFT172 NSD2 SLC35A3 DHCR7 NSDHL FANCM GPX4 SIX3 COL10A1 SLC26A2 TNNI2 ACTL6A GNPTG RNU4ATAC SEC23A KIAA0586 NDN DYNC2I1 COL1A1 SYT2 EP300 UFSP2 GLI1 ALDH18A1 GDF5 INPPL1 TBL2 DHODH ALG9 GPC3 ITGA7 SHOX XRCC2 DSTYK NELFA MUSK COL6A3 HERC2 TBXAS1 DYNC2I2 PYCR2 FBN1 MASP1 IHH KCNK4 ORC1 VAC14 GUSB ERCC8 LIMK1 PTCH1 SHPK RPS15A DLL1 RNF13 MBTPS2 GAS1 CCDC8 CHAT GATA1 TRPS1 PLK4 HYAL1 COL11A2 GMNN LBR ATAD3A CENPE NPAP1 RAD51 SMC3 EFEMP2 SNORD116-1 SLC18A3 VAMP1 PIEZO2 FKBP10 HSPG2 RBM8A PGAP2 EIF4A3 KMT2E FANCD2 DYNC2H1 FUT8 POMT1 MKRN3 SNORD115-1 WNT7A TONSL SHROOM4 ENPP1 MYH7 RUNX2 EIF2AK3 HDAC6 TDGF1 PTH1R TNNT3 SMARCD1 AP4S1 RAB23 EXOSC3 DYNC2LI1 EXOC6B ZBTB20 C12orf57 AP4B1 SLC6A5 AKT1 TRAPPC2 CANT1 WNT3 MYL2 TRIP11 HACE1 OCA2 AEBP1 BMPER FGF8 OBSL1 TAF1 FHL1 FANCC TNFRSF1A FLNB TNFRSF11A KMT2D ATP6V1E1 PSMD12 TRPV4 ARID1A GLI2 GEMIN4 PPP2R1A ELN FLNA SLC39A13 IFT80 FGFR1 WDR19 DDRGK1 OCRL ZIC2 ANTXR1 CUL7 HNRNPK SMARCC2 SLC35D1 ATP6V0A2 MAD2L2 AIFM1 ADA COL1A2 WDFY3 HLA-B PYCR1 FRAS1 RERE MYH8 POC1A LMNA SEC31A VPS33B ACTA1 TET3 COLEC10 SBDS SERPINF1 FGFR3 PEX5 PGAP3 CAV1 KIAA0319L ZNF469 CD96 NALCN APC USP9X MYT1L PIGL SLX4 NANS TRMT1 ACTL6B ANKRD11 KDM3B MED13 GTF2IRD1 DNAJC21 AP4E1 DMP1 RFC2 PALB2 TGFB1 MRPS25 MECOM RPS6KA3 TGFBR2 EZH2 NIN ATR DDX6 SELENON COL6A2 WASHC5 VDR WNK1 SMARCE1 LRP4 CNOT3 TPM2 PTRH2 MCTP2 IDUA SMAD3 COL9A1 NEPRO FANCE CHST3 CCR6 CFL2 SMAD4 FGFR2 GRIP1 INPP5K TRAIP CDCA7 FOXH1 CRTAP ZMIZ1 BMPR1B ERGIC1 RSPRY1 SLC25A1 PCYT1A IFT43 IARS2 RSPO2 EXTL3 EBP PORCN SHH SCN9A SOX11 SVBP TPM3 ZC4H2 NIPBL FANCB CCBE1 CDON HACD1 PRDM16 PIGY LONP1 RYR1 CEP120 MTX2 CTSK NKX3-2 FANCF SATB2 PPP2R5D TBCD GNPAT RLIM ARX STAG2 COL12A1 RINT1 FLI1 COX8A TOR1A AFF4 ABCC9 CSPP1 PPP2R3C PIGO BAZ1B MYO9A FANCL PHF6 SH3PXD2B KLHL41 EVC2 LRP5 TGIF1 IFNGR1 IDS MYO18B UMPS TRAPPC4 PHEX FARS2 PLOD1 ATP7A MKKS PIGW MMP13 HHAT FBLN1 COL5A2 WNT5A ARID2 IFT140 GLRB GMPPB MAP3K20 FBXW11 CPLX1 RBBP8 ATP6V1A RPS19 GTF2I SETBP1 COL9A2 FBLN5 COL9A3 MATN3 CLTCL1 ANKH SMC1A TTC21B B3GLCT TELO2 MIR140 LMX1B DOCK3 GLRA1 NGLY1 TRAPPC11 POR SNAP25 MAP3K7 PWAR1 NTNG1 TCF20 CCDC47 KANSL1 INTU AGRN ERCC1 SMARCAL1 SOX9 COL5A1 IFT52 DCHS1 FZD2 FUZ MBD5 RAB11B ADAMTS2 TTN POMT2 CHRNG USP7 PCNT GNPTAB DPF2 PRDM5 LETM1 COL13A1 IFIH1 VIPAS39 POLR3A MYH3 GPC4 CHRM3 LARGE1 GJA1 IL6ST GLE1 B3GAT3 PEPD SRP54 HOXA11 COLEC11 KCNAB2 SMO ERCC4 AARS1 ATAD1 RECQL4 AMER1 PAFAH1B1 ABCC6 OSGEP SLC35A2 KAT6B EXT1 TBX4 WDR26 GORAB GABRD FREM2 CCN2 SEC24D UBE2T SLC10A7 FN1 YWHAE RAD21 SMARCB1 CSGALNACT1 TRAF3IP1 PIK3C2A FKRP COG6 ATRIP CTC1 MMP9 THRA COL11A1 CFAP410 PLCB3 VPS13B PTEN TANC2 POLR1A GSC DDR2 MAN2B1 PIGN ERCC6 LIFR FANCI TIMM22 EYA1 ATN1 SETD5 SIM1 ARID1B SMARCA4 COG1 RAD51C DVL3 MMP2 SLC2A10 SKI LMOD3 SLC5A7 PIGV SMOC1 IFT81 DVL1 OFD1 COL3A1 NTRK1 IRX5 ECEL1 DLK1 CHD4 VANGL1 IFITM5 SIL1 SOST NXN NEB MYBPC1 BRIP1 EED GALNS FIG4 BGN SLC6A9 AP3B1 MEG3 KMT2A RTL1 ZMPSTE24 PAM16 HLA-DRB1 TMEM67 CLCN7 CTBP1 BPTF SNRPB BRCA2 PWRN1 VPS33A ROR2 FGFRL1 TWIST1 SIX1 BCORL1 POP1 HK1 RETREG1 RFWD3 FANCG TWIST2 FANCA TRAPPC12 FAT4 ARSB ARNT2 KIF1A UBE3B HP_WORMIAN_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WORMIAN_BONES BCL11B LRP5 RUNX2 PLOD2 TAPT1 IFITM5 FKBP10 GORAB ZMPSTE24 HSPG2 KDELR2 WNK1 PPIB COL1A2 ATP6V0A2 MESD ATP7A TENT5A ALDH18A1 NOTCH3 CTSK AFF4 ESCO2 NOTCH2 SETBP1 SCN9A THRA PDGFRB ARID2 COL1A1 P3H1 LMNA FLNA DDRGK1 HPGD SH3PXD2B SEC24D RETREG1 BMP1 MEG3 AIFM1 RTL1 SP7 PAM16 P4HB CRTAP DLK1 CHD4 KIF1A HP_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_DISSECTION MYH11 NKX2-5 MAT2A TGFBR2 ABCC6 FOXE3 PRKG1 SMAD6 COL3A1 ENG ACTA2 FBN1 SMAD4 THSD1 SLC2A10 TGFBR1 TGFB3 MFAP5 SMAD3 LOX ENPP1 BGN PTPN22 GATA5 TGFB2 ANGPTL6 ELN MYLK TGFBR3 PLOD1 NOTCH1 HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA B3GALT6 KIF22 EXOC6B ACAN MMP13 AIFM1 BGN MATN3 IARS2 RSPRY1 PAPSS2 DDRGK1 TONSL NANS COL2A1 DDR2 HP_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_DYSPLASIA WDR35 TMEM165 PEX11B HSPA9 COMP COL2A1 ANOS1 SBDS MMP13 GLI3 XYLT1 DDRGK1 TONSL RMRP FGF17 COL11A1 IFT140 LOXL3 RNU4ATAC PROKR2 ACP5 FGFR1 VPS33A NANS PEX6 KANSL1 IL17RD FEZF1 B3GALT6 KIF22 PEX2 FLNA RPL10 B4GALT7 CDKN1C PTH1R CFAP410 DNAJC21 DYM IFT172 FGFR3 GPX4 COL10A1 SEC23A PTEN KCNJ8 SEC24D DMP1 DYNC2I1 FN1 NPR2 TGFB1 IFT80 UFSP2 CDH3 TTC21B COL9A2 IDUA DDR2 LMX1B ALG9 PEX5 PEX26 COL9A1 PEX13 NLRP3 HESX1 GDF5 DYNC2H1 ACAN DYNC2I2 CTSK TRPV4 KRAS FAT4 FGF8 POLE SFRP4 SRP54 EXOC6B ANAPC1 RUNX2 SMARCAL1 LBR ENPP1 PEX3 HS6ST1 SLC26A2 ERF PCYT1A CCDC141 PEX14 RECQL4 DCC PEX12 RSPRY1 PAPSS2 POLR1C HSPG2 ABCC9 CHD7 PEX7 SEMA3A CHST3 EIF2AK3 IARS2 SF3B4 EXTL3 COL3A1 PEX19 LEMD3 NF1 GNAS TYROBP HDAC6 ACTG1 BGN DYNC2LI1 TREM2 TRIP11 PEX10 WDR11 ACTB NEU1 LONP1 TBXAS1 PEX16 PAM16 CEP120 SMO AIFM1 COL9A3 TMEM67 NKX3-2 AKT1 NSMF GJA1 TRAPPC2 MATN3 MBTPS1 EFL1 CANT1 SOX10 FLNB MAP3K7 TACR3 STAC3 NOTCH2 TCOF1 IHH FLRT3 PIK3C2A COL11A2 LIFR DUSP6 SPRY4 WDR19 SLC39A13 POP1 NDNF DCHS1 PROK2 ALDH3A2 POLR1D CTSA PHYH PEX1 LTBP3 CWC27 BMPR1B ANKH KIF7 P4HB ARSB KISS1R HP_BONE_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_PAIN NPM1 HPGD CYP19A1 ZBTB16 GBA NABP1 STAT5B CDC73 FOXE1 CCND1 STAT3 FGF23 MINPP1 TCIRG1 TET2 CYP27B1 DKK1 GNAS EXT1 TNFSF11 CYP2R1 TYROBP PTPN11 PRKAR1A PSMB8 SLC34A3 LEMD3 ZNF687 PML TREM2 SERPINF2 BCOR DMP1 SRSF2 TGFB1 TNFRSF11A TNFRSF1A VCP TBL1XR1 EXT2 CA2 SQSTM1 LPIN2 IDH1 ELANE CLCN7 ASXL1 SLCO2A1 GATM RARA VDR POLE SLC34A1 NDUFAF6 NUMA1 PHEX CTSK WNT3A IDH2 NOTCH2 AGXT RUNX1 HABP2 FIP1L1 CLCN5 WNT1 TEK KIF1B TRPS1 SCARB2 ATP7B ENPP1 SNX10 CBL AP2S1 EHHADH IRF2BP2 PTH1R HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA EIF2AK3 PHYH MATN3 RNU4ATAC KIF7 SLC26A2 PEX7 COL9A1 HP_SPONDYLOEPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA SMARCAL1 RNU4ATAC COL2A1 TRAPPC2 IARS2 ACAN COL11A1 RPL10 MBTPS1 TRPV4 CHST3 HP_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_DYSPLASIA TMEM165 HSPA9 COMP B3GALT6 COL11A2 EIF2AK3 CDKN1C COL9A1 XYLT1 COL11A1 MATN3 CANT1 RNU4ATAC COL2A1 LTBP3 LOXL3 EXTL3 NPR2 SLC26A2 FLNB PTH1R COL9A2 TRPV4 COL9A3 ARSB HP_SPONDYLOMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA COL2A1 FN1 GPX4 ACP5 PAM16 CFAP410 PCYT1A TRIP11 TRPV4 HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES TP53 LRP5 SMPD1 VCP ANOS1 SERPINF1 CDKN1A SCN9A CTNND2 TRIP4 GORAB TNFRSF11B TCIRG1 GBA FGF17 HBB TENT5A CCND1 CTC1 RTEL1 PROKR2 PYCR1 KIF1A CHRND CYP27B1 DKK1 ELP1 COL1A1 IL17RD EXT1 FEZF1 TNFSF11 TERT B3GALT6 PLOD2 CYP2R1 GNAS OCRL CTNNB1 SLC29A3 ACTA1 TPM3 COL1A2 YY1AP1 CBS TNFRSF11A FBLN5 MBTPS2 SEC24D SRSF2 SGMS2 FN1 TET2 FGFR2 PRDM5 NEB STAT3 CLTCL1 AGA HRAS SLC7A7 LPIN2 KCNJ6 CDKN1B ASXL1 WNT1 LIFR FKBP10 CHRNA1 VDR ASCC1 PPIB MYH3 NGLY1 HESX1 SLC34A1 NDUFAF6 CTSK LMOD3 FGF8 IDH2 PTH1R AGXT P3H1 UROS CLCN7 CHRNG CHST3 ZNF469 COL2A1 RIN2 PLOD3 CASR ALPL LBR SMS WRAP53 SOX9 GK NOTCH2 NTRK1 HS6ST1 NHP2 PLEKHM1 SNX10 CBL KLHL41 CCDC141 CRTAP EFEMP2 DKC1 SEMA5A RECQL4 ZFHX2 TAPT1 IFITM5 DCC PDE8B TYROBP PTEN GNPTAB WNK1 TERC CHD7 SEMA3A NRAS EIF2AK3 CDKN2C FOXE1 PRKAR1A MMP2 MINPP1 NFIX ANO5 PDE11A USB1 SLC9A3R1 USP8 GLE1 RUNX2 P4HB CDKN2B RETREG1 B3GAT3 FZD4 SLC34A3 LEMD3 ZNF687 NGF MOGS TRIP11 PRKACA PANK2 WDR11 MEN1 PARN EXT2 CA2 HNRNPA1 MPV17 SQSTM1 NSMF KRAS SATB2 TINF2 MMP14 NPM1 TBCD GATM KDELR2 GATA1 IER3IP1 MESD SOX10 KLHL40 ATP7A CDH23 RB1 FGFR1 SLC4A1 WNT3A TACR3 B4GALT7 RUNX1 IDH1 HABP2 FLRT3 HNRNPA2B1 DUSP6 CLCN5 SPRY4 TMEM38B NOP10 MTAP ANTXR2 SC5D BRAF NDNF PROK2 SCARB2 CHEK2 ATP7B EHHADH TREM2 TIMM8A KISS1R HP_PAINLESS_FRACTURES_DUE_TO_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAINLESS_FRACTURES_DUE_TO_INJURY NGF ZFHX2 WNK1 SCN9A NTRK1 KIF1A MPV17 RETREG1 HP_DELAYED_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_EPIPHYSEAL_OSSIFICATION COMP VDR CYP2R1 KIF22 B3GALT6 COL2A1 CLCN5 CYP19A1 PTH1R DDRGK1 MATN3 MIR140 RNU4ATAC GPX4 CYP27B1 SLC34A3 PISD COL9A3 KCNH1 ESR1 HP_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM NOD2 RAD51D RAD51C CR2 JAK2 EXT2 H19 WT1 PUF60 CDKN1A ERCC3 CXCR4 AXIN1 C11orf95 NQO2 RAD51 KCNH1 TINF2 CDH1 RB1 BRCA1 FGFR1 PMS2 AIP TTC37 KRAS ATP7B SIX3 ALK TCF3 DIS3L2 XPC DDB2 RTEL1 CCDC22 TUBB AKT1 BCL10 RAD21 PLCD1 DICER1 KANSL1 PDGFRB NF2 SLC45A2 LIG4 SMARCB1 PRKAR1A MSH2 B3GALT6 HNF1A CTNNB1 ATRX DISP1 KRT6B ABL1 UBA1 NSD2 TSC2 DHCR7 ASXL1 FANCM RNASEL ADA2 GNAI3 CIB1 COL1A1 ANTXR2 MT-TQ LMOD1 MYF6 SEC23A RPS14 POLD1 APC MSH6 NODAL MET FIBP EP300 STAT3 GLI1 GNB1 PHKA2 MSTO1 OFD1 EPCAM IL1B MLH3 PALB2 KLF6 GPC3 CCND1 G6PC FLT4 ING1 TSC1 PIK3CA MYD88 MITF XRCC2 NLRP1 GAS1 POU2AF1 MN1 RFWD3 NELFA STK11 SDHD NRTN CTLA4 BICC1 FN1 RAD54L LAMC2 GPC6 NF1 KIT ALX4 BRAF SKIV2L KIF1B IDH2 MAP3K1 LRRC8A NBN KLHDC8B PMVK DNASE1L3 HRAS MSL3 SLC25A11 DLST BRCA2 GATA1 DNMT3A TRPS1 COL18A1 TP53 MALT1 EWSR1 PDGFB KRT17 GPR101 RPS15A BAP1 RET BLM YY1 TNFRSF1B SLC22A18 DKC1 PHOX2B CEBPA WRN SHH TNFRSF13C MAGT1 SEC23B TET2 PDGFRL RECQL4 WWOX COL2A1 HSPG2 BRIP1 MVK KCNJ10 SIX6 WIPF1 FOXI1 CDC73 CARMIL2 TMEM216 ACAN FANCD2 DYNC2H1 INS MINPP1 SPINK1 GJB2 RPL11 SLC17A9 ABCC8 RPS19 HLA-DRB1 ALX3 NRAS DLEC1 ERCC2 RPL10 RHOH PSENEN TYROBP PTCH1 CRKL TMEM107 BUB3 CAT SMAD4 ZFPM2 PIGL DLL1 TRIP13 CEL PRLR GDNF CYP11B2 SEMA3C RPS10 FH MAP2K1 PAX6 ENG DYNC2LI1 BMPR1A SRD5A3 NR0B1 XIAP NOTCH3 ABCA5 IL12RB1 RABL3 ASPSCR1 MSX2 GTF2H5 ZSWIM6 MCC NSUN2 PKD1 HMBS CDK4 IGF2R SMO RNF43 COL7A1 KCNQ1OT1 PTEN CHEK2 XRCC3 ATP7A NSD1 ERCC5 RNF6 AR TXNRD2 RPS28 FOXC2 FANCC SDHC SHOX NFKB2 IGLL1 KRT16 RUNX1 GJB6 IDH1 HABP2 SDHB KAT6B TNPO3 FCN3 SPRTN NOP10 MTAP ANTXR1 MC1R SRGAP1 RPL5 LZTR1 SOS1 C1S NUMA1 ERCC4 MAD2L2 PTPN12 CD79A ADA SFTPC CREB1 RERE FANCG MFN2 SRP54 BCR FLNA SMPD1 SBDS MLH1 HPGD CDKN2A PICALM TMEM127 IL7R RNF113A NR5A1 PAX7 CD19 TOP2A REST CDKN1B MTMR14 HBB GCDH FAS USP9X EPAS1 MUC5B SLX4 PTPRJ SLC26A4 KRT1 TERT GREM1 PGM3 GNAS TMC8 TMC6 TRIM28 FAN1 SOX6 TNFSF12 SDHAF2 FAM149B1 SCN10A DNAJC21 DOCK8 VHL MYH8 IKBKG HNF4A ESCO2 CASP8 SRSF2 KLLN RPL15 POU6F2 PDE6D SAMD9L F13B MUTYH RHBDF2 ADAR IGF2 IVNS1ABP USP8 KCNE3 SLC37A4 KIAA0753 GNAQ WASHC5 FLI1 ACVRL1 KDM6B SUFU SOX2 PTPN11 CD70 FGFR2 NAGS CYLD PNP FLT3 NUTM1 SCN11A KRT10 BUB1 ERCC6 EXOC6B SDHA TNFSF15 TFE3 CCBE1 FGFR3 SETD2 POT1 GATA2 PDX1 WDPCP SRC FANCE ACVR1 SMAD7 NEUROD1 CPLANE1 KDSR MGMT GCM2 NEK1 MYH11 LIN28B MAX MT-TF CBL POLH PTCH2 LPP RPL27 IL12A CBFB ZIC2 ADAMTS3 CD28 FLCN CALR RSPRY1 ASCL1 FANCA BAX LAMB3 GCGR NDP CDKN2C GINS1 WAS MPL MYSM1 MYC SSX1 DZIP1L F5 SEMA3D USB1 CASR COL11A2 TGFBR2 TREX1 SMARCE1 RPL35A ARL6IP6 SLC26A2 ABCC6 PRDM16 RPS7 MBTPS2 SH2D1A STS TFAP2A CEP57 MT-TH KIF11 TARS1 FANCF SQSTM1 COL4A6 DMPK PCGF2 GJA1 HFE MSH3 MDH2 RNASEH2A GLI3 EFL1 ETV6 RSPO1 ATM COL4A5 ASCC1 HDAC4 CYSLTR2 TAL1 MRAP ECE1 LMNA CACNA1S FANCL EDN3 KCNQ1 VANGL2 LMO1 EVC2 TCTN3 TERF2IP TBX18 MCM4 NBEAL2 POLR1D FOXO1 IL6 CDH23 TMEM231 DHH MYLK SASH1 TLR2 GPR143 SEMA4A RASA1 BIRC3 OPCML PDGFRA TCIRG1 DPM1 ICOS ZAP70 RNASEH2B STAT1 GFI1 HNF1B DDX41 BUB1B VEGFC PMS1 TGFBR1 WNT5A SLC6A17 TSR2 SCN9A SAMHD1 ATR ARHGAP26 CDKN2B AGGF1 PDCD10 CPLX1 OCRL PRCC SF3B1 TBC1D24 TYR BDNF CD81 CYP26C1 DLC1 SETBP1 USF3 AXIN2 HAX1 MVD SLC25A13 PRKCD IL2RG KRT14 TAF1 PALLD EVC SMARCD2 CHIC2 MEN1 SRP72 DMRT3 RARA CHD7 LMX1B BMPER TMEM67 TRIM37 DDR2 AURKA IGHM WNT10A STAG3 ALX1 RAG2 RELA EIF2AK4 INPP5E GATA4 MT-TK DAXX MNX1 MT-TS2 CREBBP ATP6V1B2 RMRP PHKG2 DHCR24 MT-ND5 KRT5 C2CD3 APPL1 XRCC4 MS4A1 FAH MPLKIP SNAI2 RASGRP1 GJC2 ENPP1 MYO1H INTU NNT CDKN1C CTC1 NFKB1 BARD1 BIN1 RNASEH2C FZD2 PKD2 SCN4A FDPS EPHB2 MC2R TAF15 IFIH1 RPGRIP1L CHRNG TRAF7 PLCB4 POLE TP63 POLR1C PPM1D GNPTAB ABCB11 NOTCH1 TERC LETM1 SPRED1 SPIB FOXE1 RAG1 KLF11 VANGL1 TBXT BCL2 PTPN3 COL14A1 MMEL1 F13A1 GPC4 CD96 BLNK IL1RN ACTB CCL2 GCK STIM1 IFNG ELANE PIGA CTSC LEMD3 ACD TREM2 AHCY KCNN3 DHX37 MAPK1 KCNAB2 PLAG1 TG VAMP7 SRY GJB3 MT-RNR1 PHB KEAP1 MT-TP NPM1 PCNA SOX9 BTK MLLT10 SSX2 RPS24 RNF139 WRAP53 CD27 ACP5 PKHD1 EDNRB EXT1 PERP XPA CDON RPL18 GJB4 MTOR CTSA IRF5 GABRD SLC12A3 MMP1 TNFRSF13B BRD4 KCNJ11 LAMA3 UBE2T PLA2G2A PHF21A RAF1 RAD54B SH3KBP1 AAGAB TNFRSF4 NKX2-1 ERBB2 IL7 SMARCA4 KRT6A MRE11 TCF4 DCC BLK ACTG2 PPOX BCHE FOXP1 STK4 MGAT2 CPOX SFTPA2 ELMO2 EXTL3 THPO ARID1B CYP2D6 STAC3 DCLRE1C PARN TRPV3 FANCB STAT6 KIF7 PIEZO2 GTF2E2 TJP2 RB1CC1 MSR1 CD79B RPL35 MST1R RYR1 RPL31 ERBB3 KRT9 RRAS2 NUP214 MAFA OGG1 TGIF1 ECM1 NTHL1 SLCO2A1 FANCI EYA1 GLI2 NEK9 CASP10 FGF8 RPL26 GDF5 CLCNKB DVL3 SKI CTPS1 GANAB ANAPC1 MTM1 NDUFAF6 DNM2 PSAP DVL1 TBX2 EDN1 LZTS1 MDM2 NHP2 ESR1 DLK1 MAP2K2 RAD50 FASLG SAMD9 UROD MST1 CC2D2A ARSA FUZ PYGL KRIT1 OCA2 STAR HMMR KARS1 SERPINA1 GNA11 MEFV RPS17 MT-TL1 PAX4 JAG1 CYP11B1 GNA14 APC2 MEG3 LRBA KDR BMP2 RTL1 CTHRC1 HSPA9 GPR35 GDF2 MDM4 FERMT1 ARMC5 GBA CTBP1 HOXD13 BCL6 FGFRL1 PAX3 TNFRSF10B GFI1B FAT4 RPS26 NR4A3 LRP5 SH3GL1 SLC2A2 HACE1 MXI1 TWIST1 CARD14 PIK3R1 TDGF1 RPS29 FGF3 SIX1 TCOF1 ZFHX3 TEK TAL2 RPS20 PRKN FOXH1 MYCN SH2B3 SMARCAD1 CCM2 NAB2 L2HGDH PORCN BMPR1B RPS27 AP2S1 MAPRE2 MAD1L1 FAM20C ITK PTH1R HP_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOMA ZAP70 FOXP1 CR2 CD28 BCL10 LIG4 RECQL4 DDX41 TNFRSF13C TCF4 MAGT1 NBN IL7R ATM TP63 CD19 CDKN2A TERC ICOS RUNX1 WIPF1 TET2 FAS WAS RTEL1 RMRP RASGRP1 RAG1 MYC SRSF2 BCL2 COL14A1 HLA-DRB1 STAT3 TERT USB1 RHOH NRAS PGM3 TNFSF12 CD81 PTEN RB1 TNFRSF1B PRKCD IL2RG LRBA PARN TP53 POLE SH2D1A KIF11 XIAP BLM CHD7 APC TINF2 NSUN2 NPM1 ASXL1 NTHL1 CCND1 RNF43 MYD88 RAG2 CASP10 MLH1 MSH6 BCL6 CD27 TNFRSF13B CTLA4 CD70 PIK3R1 PNP NFKB2 CHEK2 ADA XRCC4 MS4A1 KLHDC8B DNASE1L3 KRAS NOP10 PMS2 CTC1 NFKB1 AAGAB WRAP53 MALT1 MDM2 NHP2 CBL BIRC3 DKC1 KIT ITK FASLG DCLRE1C HP_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHEOCHROMOCYTOMA SDHD CCND1 CDKN1B CDKN1A MAX SDHB TMEM127 DNMT3A PRKAR1A MDH2 RET CDKN2C EPAS1 VHL TSC1 TSC2 SDHC NF1 KIF1B DLST SDHA CDKN2B SLC25A11 SDHAF2 FH MEN1 GDNF HP_PARAGANGLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAGANGLIOMA SDHD CCND1 TMEM127 SDHA SDHB MAX VHL SLC25A11 DNMT3A DLST SDHAF2 FH MDH2 NF1 ATRX RET SDHC DAXX EPAS1 KIF1B HP_OSTEOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOSARCOMA RECQL4 ANAPC1 LMNA RPS19 MTAP TP53 CDKN2A ADA2 RPS24 GATA1 RPL5 RPL35A RB1 RPS10 TSR2 RPL26 RPL35 RPL15 RPS7 RPS26 WRN RPS28 CHEK2 MDM2 RPL31 RPS27 RPS17 RPS15A RPL11 RPS29 RPL18 SQSTM1 RPL27 HP_BASAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_CELL_CARCINOMA MLH3 KRAS APC KEAP1 RECQL4 MLH1 PIK3CA NTHL1 ERCC4 ERCC3 WNT10A SMO DDB2 CASP10 OCA2 PMS1 TGFBR2 PMS2 NRAS CYLD FAS ERCC5 PTCH2 SUFU MSH2 LMNA ERCC2 XPC TYR TMC6 FAN1 DICER1 ANAPC1 RASGRP1 RPS20 MC1R PRKCD MSH6 PTCH1 SEMA4A POLH BMPR1A RASA1 CIB1 HRAS EPCAM FASLG HP_GASTROINTESTINAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_CARCINOMA BMPR1A MST1 POLE MCC STK11 MSH6 APC MLH1 NTHL1 PDGFRL AXIN2 AURKA CCND1 POLD1 RPS24 GATA1 DCC TSR2 RPL26 AKT1 TP53 TGFBR2 CTNNB1 RPS26 MSH2 RPS28 RPS17 PMS2 SMAD4 RPL11 BAX RPS19 RPS29 MLH3 PTPRJ RPL18 BUB1 GREM1 FGFR3 SRC FLCN DLC1 ADA2 RPL5 RPL35A PLA2G2A RPS10 RAD54B RPL35 RPL15 RPS7 BUB1B RPL31 TLR2 RPS27 PIK3CA MUTYH PTPN12 RPS15A EP300 TCF4 GPR35 EPCAM NRAS WRN RPL27 HP_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VALGA COL2A1 FLNA SOX4 MGAT2 ATP7A XYLT1 HSPG2 DPF2 SIL1 ABCC9 WNT5A ARID2 RBM8A EIF2AK3 IFIH1 EXTL3 ARID1B COG8 PDE4D ARCN1 EED GALNS SOX11 COL11A1 CRKL GLI3 BGN COL9A2 SMARCD1 COL9A3 CANT1 MEG3 RAB23 KCNJ8 MAPK1 RTL1 ZMPSTE24 TGFB1 FUCA1 STXBP1 RPS6KA3 EZH2 GTF2E2 MAN2B1 BCR IDUA MIR140 SLC12A2 COL1A2 KDELR2 GLB1 ERCC6 NGLY1 SMARCE1 LMX1B SLC35A2 SMARCA4 COG1 COG4 SHOX DVL3 SLC2A10 ARID1A B4GALT7 ORC1 TGFB3 NFIX TRIP11 B3GALT6 COL9A1 ATRX CCDC47 POP1 DVL1 SMARCC2 ADAMTSL2 SLC10A7 COL1A1 FZD2 INPP5K ENPP1 SMARCB1 DLK1 ADAMTS2 LMNA HP_CLOVERLEAF_SKULL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLOVERLEAF_SKULL EXTL3 POR FGFR3 FGFR2 RAB23 FGFR1 WDR35 MEGF8 HP_SKULL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKULL_ASYMMETRY MASP1 FGFR2 FTO TWIST1 RSPRY1 HP_ABNORMALITY_OF_THE_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SELLA_TURCICA MAN2B1 IDUA DYM ZSWIM6 CDH11 TRIM37 PCNT GNPTAB VPS33A ADAMTSL2 PLOD3 MAF NKX2-1 SUFU NOTCH2 RMRP PTCH1 SLC17A5 GUSB PTCH2 MTX2 LHX4 ABCC9 STUB1 BMP4 HP_J_SHAPED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_J_SHAPED_SELLA_TURCICA SLC17A5 GUSB IDUA PLOD3 MAF MTX2 GNPTAB TRIM37 RMRP VPS33A ADAMTSL2 HP_DEFORMED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_SELLA_TURCICA IDUA PLOD3 MAF DYM SUFU GNPTAB NOTCH2 TRIM37 RMRP PTCH1 SLC17A5 GUSB PTCH2 MTX2 VPS33A ADAMTSL2 HP_ABNORMALITY_OF_THE_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALVARIA GRIA3 WDR35 CR2 LRP5 PDHX UBR1 UNC80 GJA5 CDH11 HES7 TPO KMT2C ARMC9 CHD3 PEX5 WNT5A AGA TNFRSF11B ATRX IFT122 RMRP SHANK3 RB1 ABCC9 BRCA1 LARS1 ZIC1 ACOX1 ZFPM2 ERF CEP152 XPC DDB2 CCDC22 MTOR GPC6 TUBB ACP5 EOGT THOC2 B9D1 PEX6 CTNS NOTCH1 ARCN1 PREPL KANSL1 IDS TGFBR1 POGZ TRPS1 FGFR1 FGFR2 ARHGEF9 PAK1 LIG4 GJA8 MAN1B1 TBC1D20 FAM20C HDAC8 FKTN GDF1 FMR1 CENPJ NSD2 PIK3R1 ASXL1 FANCM NDE1 CTSD DSE GPX4 HYMAI KATNIP PPM1B RNU4ATAC SEC23A KIAA0586 COL1A1 FUCA1 KIF7 STAT3 OFD1 ALDH18A1 ROR2 INPPL1 PDE4D SPTB FBN1 ALG9 FAM111A TWIST1 DEAF1 PEX26 ZMPSTE24 FKBP10 XRCC2 GP1BB EPB41 LMX1B CCNQ SETD5 NELFA ABCC8 DYNC1H1 COL1A2 TMEM237 HERC2 TBXAS1 DYNC2I2 ERCC5 COG4 MASP1 ALX4 ACTB ORC1 MSX2 VAC14 SATB2 OBSL1 ERCC8 SHPK RELN P3H1 MSL3 CLCN7 CCDC8 GATA1 PTPN11 GJB6 AHI1 FTO CKAP2L COL18A1 PLK4 DHX37 TANC2 GMNN SMS SPECC1L TCF12 DHCR7 CENPE NPAP1 SNX10 RAD51 YY1 DVL3 SMC3 SNORD116-1 TNFSF11 CHRNG DPH1 PYCR1 NKX2-5 PLOD2 NOVA2 TNFRSF13C MN1 AIP RECQL4 MAF HSPG2 MOCS1 ADSL NCAPG2 BPNT2 PGAP2 SIX6 TTC37 PIGA TMEM216 ACAN ATIC FANCD2 COMT HMGA2 CDK8 MKRN3 SNORD115-1 WNT7A TBC1D7 TONSL ACE TUBGCP6 TCTN1 DYM TECPR2 NAA10 PTCH1 GLIS3 BUB3 UGDH RUNX2 FLCN HDAC6 NTNG2 WDR19 VANGL2 PIGL HPGD UBE3A PEX13 PQBP1 RPL10 PEX10 FGFR3 RAB23 PEX2 PIK3CA MAP2K1 EXOC6B MBTPS2 TRAIP ZBTB20 C12orf57 B3GLCT ERCC2 SLC34A3 EHMT1 BRAF D2HGDH EFNB1 AKT1 NONO DLL3 SIK3 GTF2H5 ZSWIM6 UBE3B SLC25A24 RBM10 NSUN2 TCIRG1 IQSEC2 TDP2 KDELR2 CEP120 ATP7A NSD1 TAF1 LRP4 FHL1 DVL1 NOTCH3 LHX3 SMAD6 GJA1 FANCC CHN1 ATP6V1B2 FLNB DDX3X SLC26A4 NFKB2 NDN HCFC1 B4GALT7 OPHN1 PIBF1 PPP2R1A BMP4 ZEB2 TRIP11 VDR KAT6B PDGFRB GATA4 FLNA SLC39A13 SPOP SPRTN IFT80 PRMT7 AMACR DDRGK1 ANTXR1 CUL7 HNRNPK DCHS1 SLC35D1 IGF2 ATP6V0A2 ERCC4 SLC29A3 MAD2L2 CWC27 AIFM1 ANKH FGF9 TBL1XR1 KNSTRN EDA MEIS2 DLL4 PPP1R12A SMARCD1 TRAPPC9 FRAS1 RERE TMCO1 SNRPN PEX11B TET3 KIT COLEC10 KRAS PGAP3 RNF113A PTDSS1 COX4I1 PIGV FZD2 SIX2 CD96 APC USP9X UFD1 B9D2 FOXF1 CYP27B1 MAPK1 SLX4 AMER1 NANS FBXO11 SMC1A SRCAP DIS3L2 LEMD3 ANKRD11 POLR2A PLAGL1 ITCH ADK SETD1B SOX6 NUP188 DUOX2 ZNF462 TNFSF12 ACTA1 INTU FAM149B1 ETFB REN BMP1 ESCO2 SEC24D DMP1 COL11A2 PALB2 NRAS LMNA DPYS TGFB1 PDE6D RAI1 AHDC1 NALCN RPS6KA3 ADAMTSL1 TGFBR2 HRAS PRKAR1A ORC4 ADAR KIF1A ATR PIK3CD ALG14 DENND5A KIAA0753 LRP2 WASHC5 TMEM138 WNK1 PPIB FREM1 NLRP3 TBCE TCTN2 PSAT1 KDM6B SON CNOT3 SUFU LBR SOX2 CNOT1 CDH2 PTRH2 POLE MCTP2 IDUA PTH1R SMAD3 CEP41 CCBE1 SETD2 CYP26B1 NEPRO FANCE CHST3 SMAD4 PURA KCNK9 GRIP1 GK CTU2 NAGLU PLEKHM1 JMJD1C STAG2 PLA2G6 NPR2 PTCH2 TLK2 CRTAP CPLANE1 PROP1 EDARADD ETFA PPP2CA PEX14 ERGIC1 INTS1 ADAMTS3 ERCC3 RSPRY1 IFT43 UBA1 DDX59 CUL4B SHOX GATA6 ALX1 CRPPA MYSM1 MMP2 NFIX EBP IKBKG HBB PIGQ KCNJ11 SCN9A ARID2 ACTG1 NKX2-6 SLC26A2 TREX1 POU1F1 CHRNA7 MOGS SOST CDK10 ZC4H2 NIPBL HERC1 POR SLC17A5 DLX3 PEX3 PRDM16 PIGY SOX5 NEU1 LONP1 TFAP2A PEX16 CEP57 SLC39A8 ORC6 MTX2 MVK ALPL TARS1 CTSK ADAT3 BLM FANCF PEX19 MMP14 PPP2R5D PCGF2 TBCD SLC12A6 GNPAT MED13L NPHP1 KDM1A ZNF423 COL11A1 ALDH6A1 RNASEH2A EP300 ARVCF IFT52 MESD GLI3 SLC39A14 CDKN1C FLI1 CDC6 HDAC4 TOR1A AFF4 SLC16A2 STAC3 TALDO1 CSPP1 PIGO MKS1 CDC45 METTL23 GLB1 EDA2R H19 FANCL KCNQ1 NGLY1 KCNQ1OT1 TBX1 MYCN SH3PXD2B TRIO POLR1D HNRNPU CA2 GNE LFNG CD19 OCA2 KLHL7 PCLO TAB2 P4HB GATAD2B PHEX PLOD1 DPM1 RBM8A ICOS RNASEH2B PIGW RAC3 BUB1B POLA1 MED12 FBN2 KIDINS220 KIAA1109 AP1S2 PRPS1 TMEM231 KCNJ1 TENT5A KMT2A SAMHD1 SKI CHST14 ZNHIT3 ARX MBD5 B3GALT6 AGTR1 CYP2R1 CPLX1 RBBP8 PDX1 OCRL SEC24C ADAMTS2 RBPJ TBC1D24 CD81 GBA RPS19 SETBP1 PTEN TNFRSF11A LHX4 HBA2 COX4I2 SLC35A1 AGT CHD1 PRUNE1 KYNU RAB3GAP1 NPHP3 RPS23 SLC3A1 MIR140 OTUD6B BMPER TMEM67 TRIM37 CC2D2A SNX14 LHX1 INPP5E TSHR NXN PHF6 ARHGAP31 DYNC2H1 GATA5 MITF UPF3B SFRP4 DHCR24 PWAR1 SGSH C2CD3 XRCC4 MS4A1 CNTNAP2 MPLKIP GCK PEX1 CCDC47 CDT1 CBL ERCC1 NFKB1 EFTUD2 RNASEH2C ENPP1 NOTCH2 ASPA ALMS1 CRIPT CEP104 SLC5A5 IFIH1 MEGF8 ZIC2 RPGRIP1L PDHB USP7 NID1 POLR1C PI4KA GNPTAB CNTNAP1 PLEC LETM1 POLR3A SETD1A ALG8 GNAS MESP2 TTC8 SMG9 WDR73 KPTN ETFDH IL6ST PKDCC ERMARD B3GAT3 PEX7 NFKBIA SC5D PIK3R2 CTCF COLEC11 KCNAB2 RIPPLY2 HBA1 STXBP1 TFAP2B FLT4 HNRNPA1 TRHR GTF2E2 HSD17B4 ATP6V1A MAN2B1 KAT6A PAFAH1B1 SLC35A2 KLHL40 HESX1 DICER1 SOX9 FOXE1 BRWD3 PAX8 DPM2 RALGAPA1 RAB3GAP2 ZDHHC9 TGFB3 GABRD TNFRSF13B FREM2 NEB TRIP13 MEN1 UBE2T ADARB1 PHF21A PDHA1 RAF1 ATP6V1E1 RYR1 PIGT UGP2 TCTN3 SP7 YWHAE RAD21 CNTN1 KIF11 CSGALNACT1 RNF135 RAB18 HSPA9 VCP MGAT2 GORAB TSHB SMO NKX2-1 TMEM70 MYMK EXTL3 ITGB4 CTBP1 ATRIP ASXL3 FLII KIF15 MID1 SNAI2 BUB1 TG FANCB PIEZO2 MECP2 THRA BMPR1A TBX6 DONSON GRIN1 ARID1B RREB1 MOCS2 MAGEL2 SGMS2 TBCK HIRA ZNF148 IFT140 DDR2 PHGDH BCL11B PIGN EDAR KDM5B ERCC6 NRXN1 LIFR FANCI MAFB COX5A GPR101 CAMKMT NSMCE3 TCF20 SNAP29 PTHLH FOXG1 ARL13B HOXD13 RAD51C LMOD3 FAT4 SLC2A10 XPA SMOC1 DUOXA2 RAB39B CHSY1 SET IFT81 MYH3 TBX2 ALG1 IRX5 KIF22 TUBB3 KLHL41 MAP1B DLK1 CHD4 HYLS1 MAP2K2 JAG1 GYPC TAPT1 RAC1 HNF1B DMXL2 IFITM5 TBX15 PEX12 SCARF2 NBAS SRD5A3 ZNF142 PPP3CA IYD VPS35L RNF125 BRIP1 EXOC8 RNPC3 DDX6 PCNT BGN LAS1L FIG4 APC2 SLC6A9 MEG3 FBXL4 RTL1 PNPLA6 MTHFR PAM16 EXT2 SALL4 PPP1CB FERMT1 BANF1 DYNC2I1 GNS RNF216 GALNT2 FH HUWE1 NEK1 BRCA2 MPDZ PWRN1 MADD MCOLN1 ARL3 FGFRL1 DOCK6 AUTS2 CREBBP TUBGCP4 MAP3K7 ADNP INS TBX4 BMS1 TCOF1 HNRNPA2B1 DPF2 PLAG1 HGSNAT IL11RA SYT1 ADAMTS10 HK1 RETREG1 WAC KMT2E RFWD3 FANCG RTTN SPTA1 FANCA VARS1 PRKCD EBF3 CEP290 CITED2 ARSB ATAD3A HP_THICKENED_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CALVARIA MAN2B1 DYM GNAS COL11A1 FLNA AMER1 ERCC6 CDH11 RUNX2 SNX14 PTDSS1 AGA TNFRSF11B GNPTAB HPGD NONO AP1S2 SMAD4 LRP5 SLC17A5 PHF6 SGMS2 POLR3A PLEKHM1 PDE4D RPS6KA3 TMEM67 SFRP4 DVL1 ERCC8 HP_PRENATAL_MATERNAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MATERNAL_ABNORMALITY NME8 VANGL2 SPAG1 VANGL1 ERGIC1 CYP11A1 ZIC2 SHH RPGR CFAP300 MTHFR MAT2A CD46 FGFR1 CYP19A1 DNAH5 ADGRG6 FDXR RSPH4A DHPS DNAAF5 HBA1 TGFBR2 EP300 TP63 NR1H4 LBR CCDC151 PRKG1 KCNJ11 PROKR2 SIX3 PAH CCDC40 SLC25A20 HYDIN HADHA ARNT2 ACTA2 CCDC114 SERPINC1 NOS3 HBA2 SMAD4 LRRC56 CYP11B1 CFI DISP1 MME CCDC103 NECTIN1 ZMYND10 CFAP221 SMAD3 DLL1 CCNO ABCB11 IRF6 DNAAF6 CYP11B2 SPEF2 POR FOXE3 CFAP298 CPT1A LRRC6 ELN MYH11 DRC1 NODAL TGFB3 CORIN STK36 RSPH9 NEK10 CCDC65 NR3C2 FBN1 MYLK DNAAF4 DNAAF2 SUFU ABCB4 CFH TGIF1 RSPH1 GAS2L2 TTC12 GAS8 SOX3 TSHR HADHB RNF13 TTC25 GLI2 LMNA GAS1 MSX1 HYMAI FGF8 ARMC4 SLC35A2 PPARG DNAL1 ZFP57 DNAH11 CLCNKB DNAH9 F5 CDON TDGF1 DNAI2 MFAP5 ATP8B1 TGFBR1 LOX OTX2 SLC12A3 DNAAF1 DNAH1 FOXH1 GJA1 ABCC8 PLAGL1 DNAJB13 MCIDAS NKX2-5 SOX2 TGFB2 PTCH1 FOXJ1 STOX1 OFD1 CCDC39 RSPH3 COL2A1 HESX1 DNAI1 HELLPAR FUZ DNAAF3 HP_ABNORMALITY_OF_FRONTAL_SINUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FRONTAL_SINUS SIX2 FLNA COL11A1 KCNJ2 RUNX2 NOTCH2 TRIM37 ATRX ALX1 ALX3 SFRP4 CTSK AGA DNAI1 HP_ABSENT_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FRONTAL_SINUSES FLNA COL11A1 RUNX2 CTSK NOTCH2 TRIM37 ATRX DNAI1 HP_PLATYBASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYBASIA COL1A1 COMT SEC24C NOTCH3 TBX1 UFD1 HIRA NID1 FLNB JMJD1C GP1BB COL1A2 NOTCH2 ARVCF RREB1 SIK3 HP_HYPOPLASTIC_FACIAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FACIAL_BONES BAZ1B CLIP2 LIMK1 RUNX2 DYM NECTIN1 ELN TBL2 PTCH1 GTF2IRD1 PEPD POLR1C ALX1 VANGL2 GTF2I CHD7 VPS13B CEP120 TWIST2 POLR1D FGFR2 KRAS RFC2 MAP2K1 SF3B4 SMOC1 CNOT1 MTHFR FIG4 SEMA3E GLI2 COL11A1 SLC16A2 BRAF OFD1 NOTCH2 FGFR1 MAP2K2 TCOF1 HP_ABNORMALITY_OF_THE_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SKULL_BASE WDR35 FKTN SOX4 BUB1B DOK7 EVC C2CD3 MKS1 AP1S2 ARID2 CEP120 FGFR1 ZIC1 BCOR SIX2 CSPP1 NPHP3 USP9X PIGN RPGRIP1 CCDC22 ARID1B TUBB ACP5 ASXL1 AMER1 LARGE1 RXYLT1 CEP55 BUB1 OFD1 POLR2A B3GALT6 PIEZO2 GNAS TBC1D24 ACADVL FLNA NSD1 RAC1 WDR81 HYLS1 POGZ DHCR7 GDF6 SETBP1 ABAT ARMC9 FKRP POMT2 KIAA0586 NRAS KIF7 EP300 SEMA3E POMT1 VPS51 CRPPA ANKH B3GALNT2 GPC3 B9D1 PHGDH TMEM107 BRF1 MIR140 VSX1 DPH1 DENND5A WASHC5 MYF5 COL1A2 SMARCE1 PACS2 DYNC2H1 ATP6V0A2 CEP290 CNOT3 CPT2 DKK1 SMARCA4 COG1 PMPCA DYNC2I2 CREBBP CDH2 ALX4 PTH1R PTDSS1 RFT1 OPHN1 SETD2 NUP88 MYOD1 FLNB TGFB1 FTO CDKN1C LBR NOTCH2 EBP DLK1 MAB21L1 FOXC1 TBX15 NID1 POMK TMEM216 TMEM67 DPF2 ALDH18A1 PMM2 TMEM231 POLR3A SMG9 WDR73 COL4A1 GPC4 CC2D2A SOX11 BUB3 TCTN2 IGF2 SUFU APC2 ZEB2 SMARCD1 SLC5A6 MEG3 COL1A1 B4GAT1 TMEM138 B9D2 GLI3 RTL1 ZBTB20 CEP57 PPP1CB B4GALT1 DYNC2I1 MSX2 EVC2 SIK3 FGFR2 FAR1 RAPSN ATP6V1A TMEM237 CDC42 CHD7 SLC35A2 WDPCP POMGNT1 NOTCH3 PLG MAP3K7 RPGRIP1L ABCC9 HRAS ARID1A MUSK ZSWIM6 RNF113A SLC18A3 FLVCR2 IFT80 TRIP13 DAG1 KCNQ1 KCNQ1OT1 KRAS SMARCC2 ATP6V1E1 SOX3 POMGNT2 PIGU KLHL7 SMARCB1 PSAT1 MRE11 HP_SCLEROSIS_OF_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_SKULL_BASE PTDSS1 LBR FLNA RTL1 NOTCH3 ACP5 AMER1 MAP3K7 ANKH SETBP1 TGFB1 DLK1 MEG3 SIK3 HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY MSX2 ALX4 PIGW PIGL RUNX2 KRAS PGAP3 FIG4 FGFR3 PTCH1 RPS19 PTPN11 EP300 FGFR2 PGAP2 PHF21A PIGY SUFU POLR3A CREBBP TWIST1 PTCH2 EXT2 PIGV VAC14 PIGO HP_PARIETAL_FORAMINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_FORAMINA MSX2 PHF21A ALX4 RPS19 EXT2 EP300 FGFR2 CREBBP TWIST1 HP_ABNORMALITY_OF_THE_FORAMEN_MAGNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FORAMEN_MAGNUM FLNB RSPRY1 FGFR3 ALDH18A1 EP300 GPSM2 RUNX2 CREBBP FLNA RAB23 HP_LARGE_FORAMEN_MAGNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FORAMEN_MAGNUM EP300 GPSM2 RUNX2 CREBBP FLNA RAB23 HP_ABNORMALITY_OF_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKULL_OSSIFICATION ALPL ALX4 RUNX2 TBCE TAPT1 HHAT FAM111A ZMPSTE24 P3H1 FIG4 SLC25A19 HGSNAT ANTXR1 ALG9 PPIB COL2A1 COL1A2 INTU LMNA LBR HDAC6 SEC23A COL1A1 PHF21A OSTM1 FGFR2 NAGLU SLC25A24 TRIP11 WNT7A VCP EXT2 CRTAP MPL NOTCH2 SGSH VAC14 HP_HIGH_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_NARROW_PALATE WNT7A MAT2A KLHL41 NIPBL ATP7A ERCC3 RNF113A CHD3 PTDSS1 SCARF2 MAP2K1 IFT122 TGFBR2 PIGT WNT5A PRKG1 DDX59 SIN3A SLC6A17 KCNJ6 APC TWIST2 SPRED1 COL11A1 SKI FGFR3 BCOR ASXL3 CCDC22 HNRNPK ACTA2 ABCC6 SMG9 BBS1 GPC4 MED25 FBN1 SMAD4 DIS3L2 MCM3AP PIEZO2 NAA10 CRKL ARID2 NSD1 RUNX2 GTF2E2 NOTCH3 ERMARD TPM3 FIG4 BMPR1A FOXP2 INTU HECW2 CCDC28B SMAD3 CDK10 VPS13B FOXE3 PEX5 MAPK1 ELN MYH11 TBCK TGFB3 NEB ORC6 ERCC2 ANTXR1 PEX1 TARS1 MYLK NONO GPC3 ORC4 TCTN3 KDM5C BCR GTF2H5 UBE3B AMER1 COL12A1 WASHC5 CPT2 ATN1 SLC25A24 MAP3K7 CDC6 LRP4 TAF1 MUSK TBX1 PTPN11 MED12L DVL3 BRAF SMS VAC14 CDC45 MFAP5 RET TGFBR1 LOX MPLKIP SMARCA2 TGFB2 DVL1 CDT1 RECQL4 ARL6 ORC1 COL3A1 KCNK9 FZD2 PTEN PCLO CNTN1 ACTA1 PLOD1 GNE DPM1 GMNN HP_DOWNTURNED_CORNERS_OF_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNTURNED_CORNERS_OF_MOUTH KCNMA1 LMBR1 CHRNG PIGW COLEC10 NOVA2 CDH11 PACS1 INTS1 PGAP3 NIPBL CSNK2B WNT5A PIGT PPP1R15B DLK1 PGAP2 PIGV STAT3 PIGA LETM1 MAFB TRMT10A NXN RLIM SMC3 SMC1A HMGA2 HNRNPK POLR3A STAC3 MKRN3 GPC4 SNORD115-1 MEG3 KIF15 ABCC8 UBE2A FBXO11 RTL1 EHMT1 MBD5 KAT8 POGZ MAGEL2 LEMD3 ALX4 PIGQ ERF CPLX1 KCNJ11 PDX1 HDAC8 NDN TBC1D24 SNRPN BRPF1 NTNG2 NSD2 HOXB1 PIK3R1 ZSWIM6 SC5D ZC4H2 COLEC11 PIGY KMT2A WDR37 SETD5 OCA2 TRIP12 ZBTB20 EXT2 KCNH1 WDR4 TELO2 MIR140 SRCAP DVL3 EIF2S3 TRAPPC9 MED13L KDM1A KAT6A HACE1 CDC42 CTBP1 PWRN1 MEF2C NELFA PACS2 ROR2 RNU4ATAC FGFRL1 TCF20 SON FOXP1 CNOT3 SIM1 DVL1 HERC2 MED12L HDAC4 INS AFF4 FAT4 PWAR1 NOTCH2 PIGO SHMT2 PIGL TASP1 GCK EEF1A2 MSL3 CCDC47 HS6ST2 IGF2 WAC DCHS1 TWIST2 DHX37 PHF21A PLOD3 MASP1 GK PIGU FZD2 NPAP1 PCLO RAD21 EBF3 SMARCD1 SNORD116-1 RAB18 HP_ADRENAL_OVERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_OVERACTIVITY ARMC5 CDKN1B CDKN1A SLC12A1 PRKAR1A SCNN1A MEN1 AIRE KCNJ10 SLC26A3 KCNJ1 CLCNKB CACNA1D CYP17A1 CDKN2C BSND KCNJ5 CYP11B1 PRKACA NR3C2 GNAS NR3C1 OCRL SCNN1G CYP11A1 SLC12A3 CDKN2B CYP11B2 HTR1A PDE11A CLCNKA SCNN1B INSR TP53 PDE8B RET HP_RECURRENT_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_INFECTIONS LYST NME8 ZAP70 SRP54 SLC37A4 STK4 RPGR GFI1 NKX2-5 CXCR4 RSPH4A IL12RB1 CD19 CD79A CCDC151 ICOS MS4A1 RAG2 CFI SBDS DCLRE1C ACTC1 RAB27A MYH6 CCDC114 CEBPE SCNN1A PGM3 CCDC103 ZMYND10 DOCK8 CCNO JAGN1 HAX1 DNAAF6 STAT1 CFAP298 NHEJ1 IL2RG GATA6 LRRC6 MYD88 ITGB2 SLC35A1 SMARCD2 STK36 GJB2 NEK10 CCDC65 IFNGR1 IGHM DNAAF4 CR2 SLC7A7 C7 RSPH1 PIK3CD IRAK4 GAS2L2 GAS8 ATP6AP1 NCF2 IFNGR2 RFX5 DNAL1 DNAH11 TBCE BTK STAT3 IL17RA DNAH9 ADAM17 LAMC2 PNP IL10RA DNAI2 CIITA CFB SCNN1G DNASE1L3 DNAAF1 MBTPS2 CITED2 IGLL1 DNAH1 CYBB UBE2A CFH PSEN1 SCNN1B NTRK1 GATA4 FOXJ1 C3 OFD1 TLL1 DNAAF3 SPAG1 RFXAP CFAP300 CYBA DNAH5 DNAAF5 EGFR LAMB3 WAS RFXANK CARMIL2 TNFRSF13C TBX20 CCDC40 HYDIN IKBKG PSENEN LRRC56 C6 SAMD9 RAG1 STIM1 ELANE CTSC CFTR CFAP221 AP3B1 CD8A DNAJC21 FERMT3 SPEF2 DRC1 CD79B IL2RA IKZF1 CD81 CFD RSPH9 UNG DNAAF2 HBB MBL2 TTC12 NCF1 MAN2B1 TTC25 C8B EFL1 ARMC4 TNFRSF13B G6PC3 AICDA PIK3R1 CD40LG GATA2 GJB6 TYK2 BLNK C5 MALT1 CD40 FCN3 ANTXR2 LAMA3 EPG5 DNAJB13 MCIDAS SH3KBP1 ISG15 KNSTRN CCDC39 RSPH3 ADA DNAI1 TCIRG1 HP_DECREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGA_LEVEL JAK3 CR2 MTOR ITCH PMM2 PIK3CD CD40 IVNS1ABP CASP8 CD3D ATM TNFRSF13B IL2RG CD19 CD247 RNF168 PIGT CAVIN1 ICOS CTLA4 RAG1 RAG2 TNFRSF13C CD3E LRBA BACH2 IL2RA KNSTRN DCLRE1C TCN2 AICDA ADA DNMT3B BLM CSNK2A1 CD40LG PLCG2 CARD11 UNG HP_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNODEFICIENCY CLCA4 UNC93B1 STAT1 CR2 CD28 CD3E STK4 IL7R IL2RG LAMTOR2 IL12RB1 CD19 DCTN4 TBX1 IRF7 JAK3 TINF2 ICOS MS4A1 CTLA4 TTC37 EXTL3 SPATA5 CARD9 IL12B TCF3 IRF8 RTEL1 UFD1 SBDS ACP5 AP3D1 PARN SEC23B IL21 RAB27A RAG1 PIK3CA ZBTB24 TERT PIK3CD CPLX1 PGM3 SEC24C TFRC ATRX PTPRC TNFSF12 CD81 IRF2BP2 NSD2 USF3 SP110 ORAI1 CD3D RREB1 DNMT3B TBCE NFKB1 RAC2 KLLN CD79B LYST NHEJ1 PRPS1 MYD88 XIAP FOXN1 HIRA LIG4 EP300 CHD1 IFNGR1 RBCK1 FRAS1 MAN2B1 CHD7 BCR BCL11B EPG5 DCLRE1C IRAK4 IVNS1ABP NCF2 NFKB2 IFNGR2 IGHM ACTB AGL RAG2 LCK GP1BB PRKDC TBK1 CORO1A POLE SDHD LMNB2 IKBKB CREBBP RMRP AKT1 CFTR SKIV2L ADA CTPS1 SRP54 LRRC8A XRCC4 UROS MBTPS2 TGFB1 CCDC47 CYBB PTEN CTC1 WRAP53 NHP2 JMJD1C DKC1 RNF168 PKP1 MTHFD1 TNFRSF13C MAGT1 CYBA TERC WIPF1 CUL4B IL2RB COMT WAS LETM1 STX1A MYC IKBKG BLNK USB1 SHANK3 USP8 CRKL MMUT STIM1 BUB1B AK2 PNP SLC46A1 HYOU1 DNAJC21 TRAF3 MAPK1 CD3G TNFRSF1B LRBA SH2D1A IL2RA IKZF1 TLR3 ACD SDHC TTC7A UNG SIK3 CDCA7 TICAM1 NPM1 NCF1 FCGR3A BTK CDC42 CTBP1 EFL1 GATA1 ARVCF CDH23 FGFRL1 TNFRSF13B ATM LAT IL21R AICDA ADA2 PIK3R1 IGLL1 CD40LG DOCK2 GATA2 TYK2 BCL10 SDHB CARD11 MALT1 CD40 CD247 NOP10 ANTXR2 TNFRSF4 ISG15 KNSTRN HBB SMARCAL1 CD79A PRKCD MEIS2 NFE2L2 HELLS UNC119 HP_RECURRENT_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ABSCESS_FORMATION PSENEN CARMIL2 CD3E SP110 FCN3 CD3D BTK CTSC CD247 TTC7A AP3B1 UBE2A PSEN1 HP_RECURRENT_ASPERGILLUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPERGILLUS_INFECTIONS STAT1 CYBB NCF2 NCF1 CYBA HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS SMPD1 DDX41 FCGR2A RASGRP1 C1QB TPP2 SPP1 PNP TREX1 CASP10 FCGR2B FAS C1QC STAT4 C4A C1QA PTPN22 PRKCD ACP5 MASP2 CTLA4 IRAK1 SERPING1 C3 C1S SEMA6B C8A DNASE1L3 DNASE1 PEPD C2 FASLG HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS PGM3 STAT3 IL17RA RFXAP NCF2 NCF1 NTRK1 CYBA FCN3 RFXANK CYBB RFX5 CIITA HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS ZAP70 JAK3 CIITA STAT1 PGM3 RFXAP PIK3CD TFRC SP110 CD3D CLEC7A AIRE IL2RG MVK CD247 AP3B1 EPG5 RFX5 WDR1 RFXANK CARMIL2 ZNF341 SREBF1 CARD9 CD3E STAT3 IL17RA IL2RA KNSTRN DCLRE1C IL17F HP_FOLLICULAR_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERPLASIA FASLG CR2 STING1 NRAS TNFRSF13C TNFRSF13B TET2 KRAS FAS PRKCD CD19 ICOS CASP10 HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY FASLG SDHD ABCA1 FAS PRKCD DAXX FOXE1 RASGRP1 MINPP1 CASP10 ATRX HABP2 HP_DECREASED_LYMPHOCYTE_APOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_APOPTOSIS FAS FASLG NRAS KRAS CASP8 CASP10 HP_ABNORMALITY_OF_THE_LYMPH_NODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPH_NODES LYST NOD2 ZAP70 FOXP1 CR2 CD28 IL6 NPM1 CASP8 IL7R POMP CXCR4 ZBTB16 SPP1 CD19 HLA-DRB1 ICOS CTLA4 STAT5B RAG2 FAS CARD9 NCKAP1L BTNL2 IRF8 DIS3L2 CCND1 STAT3 RASGRP1 ACP5 TCIRG1 BCL10 RAB27A STAT4 TNFSF11 PIK3CD PRF1 PSTPIP1 TRIM28 SLC29A3 PTPRC TNFSF12 IL23R PSMB8 SP110 PTPN22 OTULIN CD81 CDKN2A IL10 SMPD1 NCF2 PML TSC1 TSC2 BCOR SRSF2 PRKCD IL2RG CALR TET2 PALLD TNFRSF1A LIG4 JAK2 TBL1XR1 IFNGR1 WT1 RBCK1 WWOX ASAH1 CHD7 CYBC1 DCLRE1C ASXL1 STXBP2 ARPC1B EIF2AK4 RARA CASP10 NLRP3 BTK SDHD DAXX CD70 CYBA UBAC2 NLRP12 RMRP PNP RNU4ATAC H19 REST ADA NCF1 LACC1 FASLG XRCC4 MS4A1 TRIP13 CCBE1 GATA2 DNASE1L3 KRAS PSMB9 IL12A POU6F2 CYBB ATRX TGFBR2 STX11 NFKB1 RIPK1 ABCA1 GPC3 LCAT IL12A-AS1 MALT1 EWSR1 IRAK1 BRCA2 RAC2 SNX10 CBL C4A MVK TNFRSF1B STAT2 TP53 TNFRSF13C MAGT1 ADAMTS3 TPP2 NABP1 MIF IL2RB GINS1 PALB2 FOXE1 RAG1 MINPP1 BCL2 CCR1 TERT DLEC1 NRAS PRKAR1A STIM1 MYC PSMB4 MYD88 FERMT3 WDR1 LRBA SH2D1A IL2RA APOA1 APOE XIAP UNG ELANE CLCN7 ERAP1 TLR4 BRCA1 FOXP3 SH3BP2 RNF168 BCL6 CD27 TNFRSF13B FAT4 RNF6 LAT NUMA1 AICDA ADA2 NFKB2 CD40LG RUNX1 HABP2 MEFV HLA-B FIP1L1 CD40 KLRC4 TRAC MPL MCM4 STING1 ATM ISG15 BIRC3 SMAD4 NCF4 IRF2BP2 ITK HP_HYPOPLASTIC_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FRONTAL_SINUSES COL11A1 FLNA ALX3 SFRP4 RUNX2 AGA TRIM37 HP_RECURRENT_KLEBSIELLA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_KLEBSIELLA_INFECTIONS MBL2 CYBB NCF2 NCF1 CYBA HP_RECURRENT_ENTEROVIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ENTEROVIRAL_INFECTIONS BTK RAG1 RAG2 IGHM SP110 HP_BILATERAL_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP_AND_PALATE GLI2 CTNND1 NECTIN1 CDH1 SPOP YAP1 PTCH1 HP_ORAL_LEUKOPLAKIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_LEUKOPLAKIA USB1 TINF2 MEFV NOP10 KRT6A NPM1 KRT17 KRT14 ACD TERT KRT5 TERC KRT16 RTEL1 CTC1 WRAP53 PARN KRT4 GJB2 KRT6B NHP2 DKC1 GJB6 HP_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RICKETS PHGDH KRAS GATM ATP6V0A4 CTNS ATP7A SLC4A1 ABCC6 FARSB FGF23 NRAS SLC34A1 NDUFAF6 SLC2A2 FAH PHEX CYP27B1 ENPP1 HNF4A EPHX1 STAT6 VDR CYP2R1 RNU4ATAC CLCN5 BAAT SLC34A3 OCRL NAB2 DMP1 EHHADH ALPL HSD3B7 TJP2 PSAT1 HRAS ADAMTS2 HP_OSTEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMALACIA PHGDH GATM RNU4ATAC GNAS OCRL ENPP1 CLCN5 ATP7A CYP2R1 SLC34A3 ANTXR2 VDR ABCC6 FGF23 ATP7B DMP1 ALPL SLC34A1 NDUFAF6 AP2S1 SLC4A1 CYP27B1 EHHADH PSAT1 PHEX ADAMTS2 SLC2A2 HP_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSCOLIOSIS TMEM165 COL2A1 NFIX CDH11 MGAT2 GORAB TONSL FBN2 ATRX PPP1R15B LMNA TRMT10A KY RAB23 ACTA1 SLC26A2 TUBB4A ACP5 PIEZO2 TELO2 MLXIPL MAP3K20 B3GALT6 HMGB3 MRPS34 B4GALT7 HSPG2 ALDH18A1 SETBP1 POMT1 BMP1 TRPV4 ATAD1 MECP2 WDR45B PMP22 RBM28 AKT1 SYT2 JPH1 SURF1 SLC1A2 HRAS CRPPA ERCC2 RPS6KA3 NUP107 ITGA7 SNX14 FKBP10 DSE MYH3 ERCC6 LHX3 DSTYK SNAP25 ATP6V0A2 SON SUFU PTPN11 COG1 FBN1 NF1 MMP2 BRAF KCNA1 SLC5A7 TTI2 DVL1 NEPRO CHAT FKRP FOXG1 SELENON NAA10 COL1A2 AGRN GZF1 AIMP2 ERCC1 CHST3 SMS NOTCH2 DNA2 TPM2 CHST14 TUBB3 PTCH2 NEMF PRX DLK1 SLC18A3 MEGF8 COL12A1 MPZ SBF2 CTDP1 VAMP1 FLNA MAPT SPART RSPRY1 PAPSS2 SLC25A1 CRLF1 MAP2K1 GNPTAB GDAP1 PMM2 NRAS COL13A1 DNMT3A EXTL3 BCOR FUT8 SPG11 ARID2 FKBP14 MVK PEX7 LAMA2 HERC1 MEG3 HACD1 POLR3A RTL1 CBS PTCH1 RYR1 DLL3 NONO ACTB CLIC2 CLP1 RECQL4 KRAS SLC52A2 TPM3 PNKP MYL2 RAB3GAP1 NDUFS3 AEBP1 MESD NSDHL SOX9 LRP5 TCTN3 ELN TOR1A ATP6V1E1 STAC3 FKTN TGFB3 MYO9A IKBKG SLC39A13 EGR2 ZMPSTE24 AIMP1 HGSNAT POP1 H1-4 SLC10A7 CCN6 MTTP PPP1R12A FARS2 MESP2 RAB18 HP_SPARSE_BONE_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BONE_TRABECULAE CYP27B1 CYP2R1 SLC34A3 VDR CLCN5 HP_THIN_BONY_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_BONY_CORTEX VDR CYP2R1 TENT5A FBN1 CLCN5 AKT1 TNFRSF11A CYP27B1 PTH1R SLC34A3 ADAMTS10 FARSB HP_OSTEOMYELITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMYELITIS LPIN2 HPGD NCF2 NCF1 CCT5 SLCO2A1 CYBA IGHM CLCN7 BTK FOXP3 IL1RN SCNN1A TCIRG1 EFL1 ATP7A TCF3 ANO5 SBDS CTSK IGLL1 PLEKHM1 BLNK SRP54 LRRC8A ATL1 FLVCR1 HBB RAB7A MTAP NGF CYBB SPTLC1 PIK3R1 PGM3 DNAJC21 NTRK1 DNMT1 SPTLC2 RETREG1 CD79B ITGB2 IFNGR1 STAT3 CD79A SCNN1G CLTCL1 SCNN1B ATL3 TNFSF11 MPV17 HP_PATHOLOGIC_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATHOLOGIC_FRACTURE TP53 SLC7A7 B3GALT6 SMPD1 RECQL4 VCP HNRNPA2B1 UROS LIFR SLC34A3 MTAP TYROBP GBA OCRL GNPTAB SC5D TCIRG1 FBLN5 IER3IP1 SCARB2 PLOD3 CHEK2 ALPL ATP7B CCND1 GNAS GK RB1 NOTCH2 CTC1 LRP5 TNFRSF11A SLC4A1 TREM2 HNRNPA1 AGA EFEMP2 PTH1R AGXT HP_RECURRENT_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FRACTURES SLC7A7 ANOS1 TAPT1 IFITM5 CTNND2 DCC GORAB TNFRSF11B TCIRG1 PTEN TERC CHD7 SEMA3A NRAS EIF2AK3 FGF17 TENT5A FOXE1 RTEL1 PROKR2 PYCR1 MINPP1 CYP27B1 DKK1 ELP1 ANO5 GNAS COL1A1 PLEKHM1 IL17RD EXT1 FEZF1 TNFSF11 TERT B3GALT6 PLOD2 USB1 CYP2R1 OCRL USP8 GLE1 SLC29A3 P4HB B3GAT3 FZD4 COL1A2 LEMD3 ZNF687 MOGS CBS TNFRSF11A TRIP11 LRP5 WDR11 MBTPS2 SEC24D SRSF2 SGMS2 PARN FN1 TET2 FGFR2 PRDM5 STAT3 SLC34A3 VCP CLTCL1 EXT2 CA2 HRAS SQSTM1 NSMF KRAS RUNX2 TINF2 CLCN7 NPM1 TBCD ASXL1 WNT1 FKBP10 VDR KDELR2 PPIB MYH3 GATA1 SOX10 HESX1 ATP7A CDH23 FGFR1 CTSK WNT3A TACR3 FGF8 B4GALT7 SMS IDH2 NOTCH2 RUNX1 IDH1 HABP2 FLRT3 CCDC141 LIFR DUSP6 CLCN5 P3H1 SPRY4 UROS TMEM38B NOP10 CHST3 MTAP ANTXR2 NDNF PROK2 COL2A1 CTC1 CASR ALPL WRAP53 SOX9 HS6ST1 NHP2 SNX10 CBL CRTAP KISS1R DKC1 YY1AP1 SEMA5A HP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOARTHRITIS GDF5 COMP MATN3 TNFRSF11B TRAPPC2 GNAS LMX1B ACAN MMP13 CANT1 AIP CLCN7 AEBP1 KIF7 COL2A1 ASPN TRPS1 GBA F9 GPR101 ANKH COL9A1 F8 MIR140 ATP7B COL5A2 GHR COL1A1 FBN1 UFSP2 COL9A3 TRPV4 EXT1 TGFB3 SMAD3 COL11A2 MEFV SLC40A1 HGD CCN6 FRZB ZNF687 HPGD FGFR3 COL9A2 SCARB2 COL3A1 COL5A1 ZMPSTE24 SLC26A2 KIF22 HLA-B EXT2 COL11A1 PHEX LMNA HP_GENERALIZED_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_JOINT_LAXITY SATB2 COMP NSMF ATP6V1A SPRY4 KISS1R PUF60 HS6ST1 COL5A2 AP4M1 DSE CHD7 ANOS1 COL1A1 PROKR2 AP4E1 AP4S1 WDR11 DUSP6 COL2A1 C1R ATP6V0A2 FGF8 ATP6V1E1 GNRH1 SERPINH1 CHST14 TAC3 COL5A1 LONP1 FGF17 FGFR3 AP4B1 PROK2 MED12 MSTO1 MCTP2 TACR3 PLOD1 KISS1 FGFR1 GNRHR HP_MULTIPLE_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EXOSTOSES SHOX EXT1 EXT2 ALX4 PTPN11 TRPS1 MSX2 HP_ABNORMAL_CARTILAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARTILAGE_MORPHOLOGY SLC26A2 IDH1 TNFRSF11B PTPN11 PUF60 ENPP1 PLCB4 ZNF462 COL2A1 HGD PTCH1 PEX5 POLR1C SIX3 UBA1 FLNB ABCC6 ZBTB20 FGFR2 EDN1 FGFR3 GNAI3 TWIST1 TGIF1 POLR1D PEX2 MGP F8 ANKH FGFR1 KRAS IDH2 DDR2 TCTN3 TCOF1 PTH1R HP_TRACHEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEAL_STENOSIS SLC26A2 EBP WNT3 FREM2 HYLS1 IDUA FLNB ZEB2 RMRP SMAD4 AFF4 HOXD13 RSPO2 KIF7 ADAMTSL2 FOXI1 EXTL3 LTBP3 MAP3K7 GRIP1 KCNJ10 DHCR7 MGP PCNT FRAS1 SLC26A4 HP_ABNORMAL_TRACHEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEA_MORPHOLOGY CLIP2 WNT7A GLMN RAC1 COL2A1 POLR1C FGFR1 TONSL RMRP TERC BRCA1 KIF7 PROKR2 PRRX1 FOXI1 EXTL3 TRIM2 EMC1 FANCD2 SLC26A2 RTEL1 ARNT2 MGP HYLS1 FOXF1 SLX4 AMER1 GREB1L PCNT KANSL1 BRIP1 IDS FGFR2 TERT B3GALT6 FANCB USB1 FLNB EBP ITGA8 SLC12A2 GTF2IRD1 NCF2 GTF2I ZEB2 PAX3 FANCM RSPO2 TRRAP ERF RFC2 PALB2 PARN GRIP1 SEMA3E ERCC4 AHDC1 ZIC3 FBN2 EHMT1 NOTCH3 FANCF DDR2 SNRPB LTBP4 CYBC1 TINF2 ORC6 TBL2 NPM1 RAB3GAP2 BMPER WNT3 SOX3 FGF20 FANCI IDUA XRCC2 CHD7 SMAD4 BRCA2 HOXD13 CYBB SOX9 RET MAP3K7 CYBA FANCC RAD51C KMT2C HDAC4 WDR26 FANCL RALGAPA1 RPL5 AFF4 HAAO FAT4 NCF1 HRAS TCOF1 BAZ1B LIMK1 SOX2 ELN OTX2 FREM2 NOP10 FANCE PDGFRB HK1 MYCN UBE2T DCHS1 RFWD3 ORC4 FANCG POLR1D ADAMTSL2 FANCA CTC1 GMNN LBR SPECC1L MAD2L2 LTBP3 WRAP53 KCNJ10 DHCR7 NHP2 KIF22 HESX1 RAD51 NCF4 FRAS1 DKC1 SLC26A4 HP_TRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOMALACIA SNRPB LTBP4 ORC6 RAB3GAP2 RAC1 BMPER COL2A1 TONSL PRRX1 TRIM2 SOX9 EMC1 SLC26A2 KMT2C HDAC4 WDR26 AMER1 RALGAPA1 RPL5 AFF4 HAAO KANSL1 FAT4 FLNB IDS HRAS FGFR2 B3GALT6 EHMT1 HK1 PAX3 DCHS1 ORC4 TRRAP ERF GMNN KIF22 AHDC1 HP_BRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHOMALACIA POR EHMT1 LTBP4 SOX9 ERF ORC6 FGFR1 GMNN RAC1 SLC26A2 FLNB FGFR2 MYRF IDS ORC4 HRAS HP_UPPER_AIRWAY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_AIRWAY_OBSTRUCTION POR ZSWIM6 BTNL2 KCNJ6 COL11A1 ZMPSTE24 F12 FGFR3 HLA-DRB1 SH3BP2 IDS AHDC1 GNE SOX9 FGFR2 LMNA HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS ZAP70 CIITA MTHFD1 RAC1 GLI3 NBN CYBA CXCR4 IL2RG SCNN1A COL6A1 CD19 GNPTAB JAK3 FCGR2A ALMS1 ICOS CTLA4 EXTL3 RFXANK CARMIL2 RAG2 TNFRSF13C USP9X MYSM1 RASGRP1 COL11A2 DCLRE1C USB1 SLC35C1 RFX5 DZIP1L ADA MED25 STAT3 P4HTM CD3D CFAP410 CD247 SETBP1 CFTR AP3B1 COL13A1 FBLN5 PGM3 PKHD1 CTCF TNFRSF11A WDR1 NKX2-1 RAG1 LRBA CD79B SMARCD2 SCNN1G COLQ LEP SCNN1B PEPD IGHM UNG DDR2 CR2 IL7R ORC6 KCNJ6 TBCD NCF2 NCF1 FOXJ1 EGFR BTK PRKCD COL6A2 RNF168 TK2 PRKDC TGFB1 RNU4ATAC CD27 SREBF1 TNFRSF13B CD3E RFXAP RAC2 COL6A3 MASP2 LAMB2 AICDA PNP CD40LG PLOD1 BLNK WAS FCN3 IGLL1 CYBC1 CYBB LAMA2 PURA WDR19 GAS8 ALB CCDC114 FMO3 KPTN COL5A1 NFKB2 EFEMP2 POLA1 HP_TRACHEOBRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOBRONCHOMALACIA EHMT1 SOX9 GMNN RAC1 IDS SLC26A2 HP_RECURRENT_UPPER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_UPPER_RESPIRATORY_TRACT_INFECTIONS DNAAF5 ZAP70 CIITA STAT1 CR2 TNFRSF13C GLI3 MAGT1 DNAAF4 NBN LRRC6 COL5A2 ATM CXCR4 IL6R SCNN1A CD19 GNPTAB JAK3 CD79A ALMS1 ICOS CTLA4 RFXANK LEP NCF4 MGP CARMIL2 RAG2 CFI USP9X MYSM1 ACP5 DCLRE1C USB1 IDS DNAAF1 RFX5 CREBBP ADA TAPBP STAT3 NEK10 PRPS1 CCDC65 CFAP298 GALNS DNAH5 TBC1D24 SLC29A3 TNFSF12 PSMB8 PTPN22 CD81 MCIDAS DOCK8 SPAG1 RAG1 LRBA GAS2L2 CD79B SH2D1A KATNIP RSPH4A HYDIN ZMYND10 SCNN1G SCNN1B HPS6 XIAP IGHM MDM4 UNG ARMC4 TAP2 ASAH1 IL7R RSPH1 GNS IVNS1ABP STXBP2 FOXJ1 EGFR FCGR3A PRKCD DNAAF2 RNF168 EP300 GLB1 DNAAF6 TNFRSF13B RFXAP FOXP1 LEPR IL17RA FOXN1 RAC2 RPGR PLG TNFRSF1A IL21R AICDA COG4 ADA2 ADNP GUSB PNP DNAJB13 NFKB2 IL2RG SGSH MS4A1 WAS HGSNAT NME8 OFD1 GAS8 TAP1 NFKB1 SH3KBP1 CCDC114 NAGLU COL5A1 DNAI2 ARSB UNC119 HP_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYPNEA ACAT1 TMEM237 SFTPC CC2D2A ARMC9 CSF2RB ZNF423 FBP1 KIAA0753 CEP41 SLC25A15 CSPP1 TMEM138 TMEM67 TMEM231 FARSB ABCA3 INPP5E CSF2RA GABBR2 TCTN2 ARL3 TMEM216 HLCS CACNA1S MECP2 MKS1 HMGCL ARL13B ABCD4 CEP120 B9D1 KIAA0586 PIBF1 NTNG1 KIF7 TLL1 TCTN1 COPA CDKL5 ACADVL NHLRC2 FAM149B1 AHI1 KATNIP SFTPB RPGRIP1L STXBP1 STING1 CASR CPLANE1 NEK1 IGHMBP2 CEP290 PCCA TCTN3 LRPPRC CA5A PDE6D PAM16 ACTA2 MT-CYB RYR1 PCCB CEP104 BTD OXCT1 OFD1 HYLS1 HP_NEONATAL_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_BREATHING_DYSREGULATION INPP5E RPGRIP1L TMEM216 CEP290 AHI1 HP_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOVENTILATION DCTN1 SURF1 FKRP PHOX2B RET SELENON ASCL1 COL6A1 COL6A2 TPM3 PWRN1 NDUFS6 NDUFB8 NEB COL6A3 LAMB2 HERC2 TPM2 HNRNPK NDUFAF2 MKRN3 SNORD115-1 GDNF ACTA1 DZIP1L NDN LMOD3 PWAR1 NDUFAF3 P4HTM MYH7 HOXA1 EDN3 SLC5A7 SLC52A3 MOGS CFL2 KLHL41 LAMA2 NDUFS2 PURA PKHD1 TTN DMD MYPN MAGEL2 NPAP1 COLQ MECP2 SNORD116-1 SCO2 SNRPN HP_REDUCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VITAL_CAPACITY AK9 MUSK CHRNA1 KLHL41 TTN LRP4 COL13A1 TPM3 MYL2 ITGA7 MYPN CHRNE SELENON ACTA1 CHRND NEB SCN4A MAP3K20 TPM2 VCP KBTBD13 HACD1 MYOT AGRN RAPSN ACTN2 PYROXD1 CRPPA CHRNB1 DOK7 MYH7 HP_ABNORMAL_PATTERN_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATTERN_OF_RESPIRATION HSPD1 NDUFA4 NODAL NDUFA13 PCK1 GPHN BUB1B ARMC9 ARL13B PEX5 SLC25A15 COL6A1 PRMT7 FGFR3 KCNQ2 PRPS1 TMEM231 FARSB CSF2RA DISP1 SKI BCHE NDUFAF2 TSEN15 B9D1 SIX3 ARCN1 IDS NTNG1 MAGEL2 CTNNB1 SNRPN SEPSECS ABCA3 PET100 TSPYL1 GSN FXR1 CTSD GNAI3 KATNIP KIAA0586 BRAT1 NDN NDUFA12 ASCL1 IL12B TP63 SYT2 EP300 NACC1 RYR1 MT-TV CRYAB OFD1 SMC1A PDHA1 GABRA1 SHH NDUFS8 DCTN1 TBR1 FBP1 MCCC1 TMEM67 CC2D2A KRT14 MT-ND1 TRPV4 INPP5E NGLY1 CHAT NDUFS6 SNAP25 TCF4 COL6A3 TMEM237 HERC2 CREBBP ECHS1 CTSK CDON TSEN54 PLAA PWAR1 HRAS C2CD3 GABRB3 PTCH1 IRF6 CNTNAP2 DLL1 NHLRC2 GAS1 ACY1 CCDC47 UQCRFS1 AHI1 NDUFS2 PURA TTN AGRN HLCS SFTPB SCO1 NFIX NEB GPR101 NPAP1 SNX10 NDUFA9 RET MT-TK CEP104 NDUFV1 GBA SNORD116-1 ZIC2 STAT2 SLC18A3 DPH1 RPGRIP1L LARP7 VAMP1 TDGF1 MLX SURF1 PLCB4 USP7 FKRP CISD2 AIP SELENON HSPG2 CSPP1 FGFR2 TGIF1 GLUL TMEM216 COL13A1 FOXRED1 MECP2 MKRN3 SNORD115-1 PRRT2 GNA11 SLC39A8 NDUFAF3 TCTN1 TECPR2 TMEM107 BUB3 MYH7 FLCN NDUFAF6 MT-ND2 PEX13 TACO1 IGHMBP2 FGF8 ACTA2 DNA2 D2HGDH BTD NONO GNPTAB RUNX2 PRNP NDUFV2 RBM10 NDUFA11 MT-TW NDUFS7 CSF2RB IDUA HTRA2 OCA2 CDKL5 CEP120 SLC19A3 GABBR2 NDUFB8 SOX9 LAMB2 ADGRG1 SDHA GLI2 MT-ND5 PIBF1 TLL1 LIFR SPOP COQ2 NDUFAF5 FGFR1 SRPX2 TRIP13 SCN5A BRAF HNRNPK DPAGT1 STXBP1 LRRC32 LTBP3 CEP290 KIF5A TCTN3 LRPPRC KAT6B GNE NDUFA2 PLPBP MT-ND4 RPS6KA3 TPM3 CASR PHOX2B TCIRG1 AP3D1 GDNF TPM2 AMER1 NDUFA10 SLC6A5 BUB1 GABRG2 SOD1 NALCN SFTPC TNFSF11 KIF7 ACADVL GLRA1 SLC5A7 LIAS FAM149B1 SLC52A3 POGZ PKHD1 SCN2A CPLANE1 MYPN MTHFR GRIN2A PDE6D AHDC1 VPS51 SLC2A1 OXCT1 DST KCNQ3 JRK NRXN1 OPA1 KIAA0753 COL6A2 PRPH UNC80 TMEM138 ATN1 TSEN2 TCTN2 STAG2 SIM1 DKK1 CACNA1S ABCD4 SCN8A LMOD3 BMP2 MT-ND6 NECTIN1 CEP41 MT-TL1 MT-ATP6 KRT5 FBN1 CFL2 EDN1 NDUFS1 NEK1 LIPT1 COL3A1 PCCA MT-CYB SCN4A FOXH1 HYLS1 ALPL ACAT1 SLC25A1 PIGT TWIST1 SLC25A20 MKS1 TERT RNF125 DZIP1L NADK2 CACNA1H P4HTM COPA NDUFS3 HOXA1 SH3BP2 MTFMT MOGS SLC6A9 WAC MYO9A PAM16 CEP57 COLQ RERE ATP5F1A COX15 PSAP SATB2 CLCN7 DMPK PCGF2 NPHP1 ZNF423 MSX1 PLA2G6 PWRN1 CIZ1 RAI1 ARL3 RARS2 HMGCL RANBP2 CPT2 SYT1 TSEN34 ACTA1 AFF4 TOE1 HLA-B EDN3 PTF1A WFS1 KLHL41 ACADSB LAMA2 PI4KA STING1 DMD CHRNE MT-ND3 NDUFS4 CA5A ZC4H2 NEFH PCCB FARS2 SCO2 HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY WDR35 CR2 JAK2 CCDC174 NDUFA4 NODAL NFIX PROC HES7 GPHN PCSK9 PPARGC1A ZFPM2 VCP NFU1 IRF5 PARN SCN4A B9D1 CCDC114 PEX6 ARCN1 STAT4 FGFR2 MAGEL2 CTNNB1 ATRX SNRPN IL23R SEPSECS CCDC103 PIEZO1 TSPYL1 IFT172 CBS GSN SMAD3 CTSD GPX4 GNAI3 HYMAI KATNIP LRRC6 NDUFA12 COL1A1 NEB GARS1 STAT3 SFTPC MT-TV FOXF1 ABCB4 TTN GAS8 PEX5 KRT14 COX7B PEX26 TERC RARA GLB1 GP1BB NKX2-5 DNAAF6 CHAT LMX1B LIPT1 TGFB1 SDHD COL6A3 DYNC2I2 LAMC2 GAA XYLT2 NDUFA1 TMEM67 POLG2 CPS1 NBN TRAF7 PTCH1 IRF6 FLG DLL1 RELN DNASE1L3 DNAAF1 FIG4 GRM7 KIF20A HLA-DRB1 UQCRFS1 NFASC NDUFS2 CHRNE COG7 TGFB2 CCNF POLR1B LARS2 TMEM70 CFL2 NPAP1 HPDL RTEL1 COL6A1 GFPT1 SNORD116-1 STAT2 EPOR DPH1 PTCD3 VAMP1 MLX PIEZO2 TNFRSF13C ENG TRPV6 TNNT2 NDUFAF1 CISD2 AIP SELENON HSPG2 NABP1 TMEM216 TBX20 TSC2 MKRN3 MT-TF MYH7 DLEC1 FHL1 TECPR2 BUB3 RUNX2 FLCN TDGF1 GP1BA BSCL2 GLA COL13A1 SPEF2 TACO1 IGHMBP2 MPC1 RSPH4A TRAIP CACNA1S SCN1B PEPD PRKCSH DCX LTBP4 NONO HBB TRAK1 GTF2H5 SLC25A20 UBE3B RBM10 NSUN2 TICAM1 HMBS DNAH1 ERAP1 MYL2 CSF2RB FBP1 LRP12 ACTA1 NF2 XYLT1 TNNI3 TRIP11 OCA2 GATA6 CEP120 LIPA SERPING1 SLC19A3 NDUFB8 RNF6 LAMB2 ASNS FLNB NFKB2 CHCHD10 GLI2 RUNX1 NOD2 MEFV TGFBR1 HLA-B LIFR FLNA IFT80 FGFR1 MYPN POMT1 WDR19 BRAF HNRNPK HNRNPA1 DPAGT1 TBCK STXBP1 IGF2 HCCS GABBR2 DCTN1 JPH2 CD79A ADA NCF4 F13A1 FGFR3 INPPL1 SCN9A NME8 NUTM2B-AS1 MAPT SURF1 DNAAF4 DOK7 COL2A1 CAV1 CCDC151 PRRX1 CASR NDUFS6 UFD1 PHOX2B TCIRG1 TNNT1 POMK TPM3 PLAGL1 CCDC65 DNAH5 ATP11A TTC25 NCF2 REN POGZ PYGM NFKB1 ELN SLC34A2 ITGA3 PDE6D GMPPB SLC25A46 HYDIN AHDC1 MT-TS2 MCCC2 DST STAT5B HPS1 ADAR CYBC1 PIK3CD HADHB RNF13 SRPX2 CRPPA LMNA COL6A2 TK2 NEK1 TSEN2 DNAH11 ACVRL1 FOXP1 ABCD4 PON3 PTRH2 BMPR2 TSEN54 KCNA1 MT-ND6 ASAH1 CEP41 SARS2 CITED2 ACVR1 CYB5R3 KCNQ2 PURA GZF1 DAO IL12A-AS1 DPP9 TPM2 ZIC3 CBL RYR1 JMJD1C NDUFV2 FXR1 IKZF1 CPLANE1 ATP5F1A SLC7A7 ALOX5 SPAG1 ETFA COL12A1 ZIC2 NRXN1 ADAMTS3 SLC25A1 ASCL1 CRLF1 SYNE2 LAMB3 LAMP2 FOXH1 MAP3K20 SIX3 NEK9 WAS PLEKHG5 TBCD COLQ DZIP1L ERCC2 SOX9 SHH CFAP300 PLAA ACOX1 NDN NDUFS1 MMUT DRC1 KRT17 NDUFS8 SCN5A SH3BP2 PLP1 KRT16 GALK1 FOXE3 KBTBD13 CDON HACD1 TNF SIK1 VMA21 GLE1 TGFB3 ORC6 SLC52A3 COX15 ARMC4 COL4A6 NDUFB9 DMPK PCGF2 HMGA2 NPHP1 COL11A1 RNASEH2A MSX1 ISCU NDUFS7 ODC1 CHD7 FGF8 IBA57 COX8A NUMA1 GUSB TOR1A ATXN2 CPT2 DNAJB13 CFAP410 AFF4 STAC3 TALDO1 CDC45 ATP8B1 FIP1L1 SLC18A3 MPL OTX2 ABCC6 ORC1 TGIF1 GNE CDKN1C FKRP NDUFS4 CA5A IFNGR1 SLC18A2 RSPH3 MT-TE IDS NDUFB10 FARS2 CCNO ANG SLC25A4 STAT1 PCK1 SMPD4 ARL13B ELOVL4 COX6A2 SMAD4 TMEM231 SEPTIN9 ABCG5 FCSK BCHE MT-ND1 TSEN15 CYB5A TNPO3 AGGF1 PRPS1 NTNG1 B3GALT6 AGTR1 PLOD2 SCNN1A PEX2 OCRL PTPN22 TBC1D24 MEG3 CD81 GBA ABCA3 CACNA1D SETBP1 BCOR MT-CO1 AGRN MT-ND2 GNAQ NACC1 AGT CHRNA1 RSPH1 GAS2L2 CC2D2A NPHS1 PCDH19 EIF2AK4 CHRND PSAP NDUFAF2 DNAL1 CDC6 DYNC2H1 DAXX AIFM1 UBQLN2 TNFSF12 CREBBP TRPV4 DYNC2LI1 SERPINC1 PWAR1 AGXT DNAI2 LGI4 TBX21 C2CD3 MTM1 IL4R NDUFAF3 IL12A KCNJ18 CCDC47 MYO1H UBE2A COL1A2 NR2F2 HLCS RNASEH1 ARL6 SCO1 BIN1 RNASEH2C PEX3 COL5A1 ALMS1 IFT52 NDUFA6 RPS28 COQ7 MT-TK CEP104 CHRNB1 NDUFV1 TERT TRAF3IP2 SNAP25 IFIH1 DNAAF3 RPGRIP1L LARP7 POMT2 CHRNG GMPPA MAT2A TBX1 RFT1 POLR1C TTC12 DNAAF5 NOTCH1 PMM2 PEX7 MRPS14 MECP2 MT-TL1 POGLUT1 SPG11 KIAA0586 LARGE1 BLNK MT-TL2 SLC39A8 SMPD1 MESP2 TRIP4 MT-CO3 NLRP3 ALAD SRP54 AHCY PGM3 CTCF TRAF3 ERF HABP2 TBK1 SUFU RIPPLY2 YARS2 NUBPL BTD SFTPB AHI1 GNPTAB PRNP AAAS TMEM260 MT-TW LRP4 KAT6A IL1RN HTRA2 FLNC ARHGAP31 DNAAF2 USP7 PLA2G7 KLHL40 STT3B DPM2 RALGAPA1 JAK1 CTLA4 SLC25A21 MTOR LOX SLC12A3 TNFRSF13B PBX1 CCN2 NDUFAF5 GABRA1 LRRC56 PIBF1 KCNJ5 CEP290 DNAI1 CNTN1 EXOSC9 CCDC39 PPCS UNC93B1 APC GLI3 SLC27A4 CASP8 TMEM43 SMAD9 CPOX COL5A2 UNC13A SOD1 RNU4ATAC THPO TUBB4A TET2 GLT8D1 MID1 ELP1 VPS33A TRPM4 INPP5E SLC6A5 CRYAB NALCN KIF7 ACADVL AMT PNKD IL10 LIAS MEGF10 MARS1 ARMC9 SCO2 RREB1 PKHD1 DNAJC21 SCN2A USP18 GM2A DISP1 CD79B NAGS CYP27A1 HIRA BAP1 ZNF148 STK36 PFN1 DDR2 COX5A ATN1 ASCC1 CFTR CLCNKB COG1 GTPBP3 USP9X MT-TN LMOD3 SLC2A10 NCF1 BRAT1 SLC5A7 BMP2 EMD ATXN1 NECTIN1 C19orf12 SCNN1G MYOD1 DNM2 MGME1 TGFBR2 MT-TH NDUFB3 AIMP2 TAF15 CLEC7A COL3A1 MMP1 DLK1 AK9 DLL4 COX6B1 ERCC3 SCARF2 PIGT SLC25A3 TRIM2 UBA1 CCDC40 GNAS KIT PEX19 MGP RRM2B PYROXD1 NF1 BBS1 NADK2 GALNS SLC29A3 DBH NDUFS3 EFTUD2 HOXA1 PAX3 CNTNAP1 PANK2 WAC SCN1A MRPL3 ZMPSTE24 MATR3 PAM16 EDN3 CEP57 GDF2 BANF1 DYNC2I1 SMN1 NUP214 SLC52A2 PLCG2 FOXJ1 IL17RA FOXP3 KLHL7 PLA2G6 PWRN1 ARX RAI1 SREBF1 FAT4 AGK RANBP2 SLC11A1 PLOD1 MYD88 CCL11 HEXA HNRNPA2B1 PTF1A SYT1 ACADSB FAM13A STING1 PHYH DMD PEX1 PIK3CA PLEC ZC4H2 SYNE1 PCCB KCNN4 MT-CO2 GAS1 SLC26A4 COQ2 TUFM PUF60 LYRM4 NDUFA13 WFS1 GCSH PRMT7 RMRP PROS1 LYRM7 PRKG1 PMP22 TCF3 BICD2 BTNL2 MMACHC ACP5 EOGT GABRG2 LIG4 NPC2 NDUFB11 KRT18 SP110 MYL1 F12 RIC1 RSPH9 SLC26A2 MYF6 TP63 RPS26 SYT2 EP300 TBL1XR1 SPEG OFD1 PDHA1 TBR1 MT-ND5 SLC35A1 ITGA7 GABRA3 FKBP10 CLCF1 GLS MYH11 ACAN TCF4 DNAH9 TMEM237 NKX2-1 HERC2 RAPSN UBAC2 ECHS1 EGR2 VAC14 LRRC8A SHPK AKT1 NHLRC2 FOXG1 SPECC1L PAX7 IRAK1 GPR101 SNX10 C4A NDUFA9 RET BLM PON2 GALC EFEMP2 MUSK TARDBP LBR MAMLD1 SPINK5 CARD11 TRAPPC11 WIPF1 GLUL FOXI1 CARMIL2 UFM1 COMT SF3B4 MYBPC3 FUT8 SNORD115-1 MADD CCR1 ACE MYBPC1 MED25 GNA11 TCTN1 PRKAR1A ABCG8 TMEM107 ENPP1 NDUFAF6 LAMA2 PEX13 PEX10 EXOSC3 PRTN3 CRELD1 D2HGDH MPZ DLL3 SIK3 ATXN8OS ZSWIM6 NDUFA11 CANT1 MMAA EXOSC8 BMPER SLC25A24 MCCC1 HLA-DPA1 DNA2 CYBB ACADM RAC2 DES LDLR IGLL1 CLPB TLL1 KRT8 CSF2RA SPOP STRA6 CUL7 F2 SCARB2 COQ9 LRRC32 TRMU KNSTRN SQSTM1 COA8 MORC2 PLPBP SEC31A PEX11B ADRB2 SBDS RNF113A HLA-DQB1 COX14 KIAA0319L FCGR2A TIMMDC1 MTMR14 CSPP1 MUC5B HPS4 FLAD1 GDNF AMER1 FARSA TNFSF11 PIP5K1C NUP188 FAS FAM149B1 CD55 ETFB EPHA4 ZMYND10 DOCK8 TSC1 ORAI1 ATAD1 IKBKG SRSF2 COL11A2 MTHFR SLC2A1 RPS6KA3 KCNQ3 ORC4 NDUFA10 LPIN2 KCNJ6 ASXL1 ALG14 KCNE3 LIPT2 OPA1 SLC37A4 KIAA0753 PRPH UNC80 TMEM138 PDGFB TCTN2 PSAT1 SON CNOT1 CYBA STIM1 BOLA3 CCBE1 GATA2 MT-ATP6 KRT5 NEFH CCR6 FBN1 ADAMTS13 SUCLG1 SCNN1B KCNJ10 GLDC MVK MT-CYB SMO VAPB BAG3 ABCA12 TWIST1 HSD17B10 CHST3 STX16 HADHA KCNK3 LDLRAP1 P4HTM MMAB RTL1 EDA MCIDAS MTFMT TREX1 MOGS CCDC28B PRRT2 MT-TQ PEX16 TPI1 TARS1 SATB2 VCL ZNF423 STAG2 NDUFAF4 ARVCF CIZ1 SH2B3 ETHE1 TSEN34 TOE1 PDSS1 COQ4 MKS1 MYO9A KLRC4 PON1 NGLY1 ERBB3 KLHL41 MCM4 HBG2 POLR1D LFNG CD19 FKTN MYL3 DKC1 IRF2BP2 DPM1 ICOS RNASEH2B HSPD1 DDX41 BUB1B ALDH7A1 SLC25A15 SMARCE1 LONP1 FARSB SAMHD1 IFT140 SKI ACTN2 ACTC1 HIBCH CFAP298 SEC24C RBPJ BDNF PET100 PML EPHB4 FBLN5 COX4I2 IL2RG MUC7 HLA-G IL12B EOMES SEMA3E NEK10 SMC1A SMARCB1 TTC21B MYLK WWOX SLC4A1 IGHM FUCA1 OPTN POR MLYCD MAP3K7 CTSK PRKAG2 HRAS MT-ND3 GABRB3 MFAP5 MS4A1 CNTNAP2 MPLKIP NUP88 GATA4 INPP5K ACY1 MICOS13 CDT1 INVS NEMF PEX14 HMOX1 SFTPA1 PLCB4 DISC1 FOXRED1 KYNU TMEM126B TREM2 SSR4 TWNK ETFDH PIGA VRK1 ABCB11 OSTM1 TLR3 FUS NOS1 ACTA2 SGCG NDUFAF8 IDUA CHMP2B CDKL5 SLC25A26 IL17F DAG1 ADGRG1 PUS3 SDHA ERBB4 SLC12A6 TNNC1 HNMT TRIP13 LAMA3 MT-ND4 LTBP3 KIF5A TCTN3 LRPPRC MFN2 KAT6B TSFM KRT6A CSGALNACT1 NDUFA2 PPOX NPM1 RPGR ZBTB16 SPP1 NR1H4 SFTPA2 MYMK POLG SCGB3A2 AP3D1 NAXE MYH6 BUB1 HLA-DQA1 GTF2E2 GLRA1 PLCB3 GP9 MS4A2 PTEN C9orf72 TRMT5 IL13 GRIN2A VPS51 OXCT1 SNRPB JRK PTGER2 PIGN SIM1 DKK1 MT-TT SCN8A KRAS BCL11B GYG1 MMP21 IFT81 PGM1 MYH3 EDN1 MYOT PCCA DNAJB6 MED12 HYLS1 GMNN ALPL ACAT1 ITCH GJA1 PEX12 STN1 SERPINA1 SYCE1 RNF125 DSP CACNA1H COPA CDSN IL17RC NPPA SLC6A9 CFAP221 SUCLA2 SDCCAG8 ACADS LRBA RERE ANXA11 APOB FRG1 CLCN7 TLR4 RNF168 ALAS2 MIR140 ARL3 DOCK6 G6PC3 RARS2 HMGCL ADNP COL4A5 TBX4 TCOF1 SEC63 PAX8 DHX16 PLAG1 GRHL2 HLA-DPB1 PIK3R1 PI4KA LRP5 MTTP DSC2 KRT6B PRKCD FAM20C ADCY6 HP_OSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS TP53 FLNA VCP HPGD CDKN1A BUB1B ATP7A GBA WNK1 SH3PXD2B ELMO2 MAFB CDKN2C IFIH1 MMP2 KIF1A PIGL FGFR1 ELP1 NF1 TRPV3 BUB1 EXT1 SCN9A UROS BUB3 SLC29A3 CDKN2B RETREG1 CTSC CAV1 ANTXR2 IKBKG MEN1 MBTPS2 LMNA ZMPSTE24 TNFRSF11A CEP57 MTX2 EXT2 NOTCH3 HNRNPA1 CTSK BANF1 SQSTM1 MAN2B1 IDH1 MMP14 CDKN1B SLCO2A1 DDR2 IL1RN VDR ZBTB20 RB1 PERP COL3A1 APC KRAS IDH2 NOTCH2 GJB6 HLA-DRB1 IRF5 PDGFRB HNRNPA2B1 CCN2 TRIP13 CCR6 GJB2 SCARB2 CHEK2 CTNNB1 ATL3 PTH1R HP_CONGENITAL_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CONTRACTURE VPS33B GLI3 DOK7 TRIP4 SMPD4 ADGRG6 FBN2 SCYL2 KIAA1109 KLHL41 TNNI2 REV3L STAT3 BICD2 TPM2 CHST14 STAC3 PIEZO2 ZNHIT3 ABCC8 TPM3 PLOD2 KIF14 PDX1 FAM20C ITGB4 PIP5K1C ACTA1 SLC5A7 NEB MYH8 ATAD1 POMT2 ZMPSTE24 MAGEL2 GFM2 PRG4 PLEC ALG3 SYT2 LMOD3 PHGDH KIF1A AUTS2 ALG14 DSE DNM2 FKBP10 CEP55 ASCC1 ERCC6 CHAT GBA ZNF335 SNAP25 MUSK MYH2 KCNJ11 MYOD1 SOX10 RAPSN SYNE1 ERCC5 TRPV4 ERGIC1 GLE1 DHCR24 TSEN54 NUP88 RFT1 SHPK GCK MYH3 CCDC47 POMT1 CFL2 AGRN ERCC1 KIF5C C12orf65 PAX7 KCNK9 ECEL1 YY1 GFPT1 SLC18A3 CHRNG CHRNE FKTN VAMP1 SLC25A1 HSPG2 PI4KA CNTNAP1 ZBTB42 CHMP1A UBA1 PPP3CA COL13A1 NEK9 VIPAS39 TBCD CACNA1E GBE1 MYBPC1 CDK5 PIGS VRK1 SLC6A9 KBTBD13 CHRNA1 ADAT3 LARGE1 PLXND1 MED13L COL12A1 SLC35A3 LGI4 LMNA KLHL40 SLC9A6 ACADM IBA57 CAPN3 FIG4 ADGRG1 TOR1A INS NALCN TBX4 ITGA6 MYO9A AIMP1 MYPN SRPX2 EXOC7 ERBB3 ERCC2 ZC4H2 FKRP KAT6B DPM2 ADCY6 PSAT1 MORC2 HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA VPS33B CHRNE VAMP1 MYH8 CHRNG DOK7 TRIP4 SMPD4 KLHL41 SLC25A1 HSPG2 PI4KA CNTNAP1 SCYL2 KIAA1109 TNNI2 REV3L STAT3 TRPV4 CHMP1A UBA1 PPP3CA COL13A1 NEK9 BICD2 NEB VIPAS39 TPM2 CHST14 TBCD STAC3 CACNA1E PIEZO2 ZNHIT3 ABCC8 TPM3 GBE1 PLOD2 CDK5 KIF14 PDX1 FAM20C ITGB4 PIP5K1C ACTA1 SLC5A7 PIGS MYH3 SLC6A9 ERCC6 KBTBD13 ZMPSTE24 MAGEL2 GFM2 PLEC ALG3 SYT2 FBN2 GBA ERCC5 CHRNA1 LMOD3 PHGDH KIF1A RAPSN GLE1 MYBPC1 AUTS2 PLXND1 DSE FKBP10 CEP55 SLC35A3 LGI4 ASCC1 LMNA CHAT KLHL40 SLC9A6 ZNF335 SNAP25 MUSK IBA57 KCNJ11 SOX10 SYNE1 TOR1A INS ERGIC1 DHCR24 TSEN54 NUP88 ITGA6 MYO9A RFT1 SHPK SLC18A3 GCK AIMP1 MYOD1 MYPN EXOC7 ERBB3 CFL2 AGRN ERCC1 ERCC2 KIF5C C12orf65 ZC4H2 KAT6B ECEL1 ADCY6 GFPT1 PSAT1 HP_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSIS CLIP2 COL2A1 NFIX CDH11 SOX4 HES7 HTT SYNE1 KMT2C ATP7A TNFRSF11B FBN2 COL6A1 ATRX ARID2 LMNA TRMT10A KY BICD2 ACTA1 CCDC22 ACP5 PIEZO2 TELO2 MLXIPL ABCC6 GLB1 KANSL1 MAP3K20 IDS NTNG1 B3GALT6 PLOD2 MAGEL2 AKT1 FBXW11 CPLX1 COL12A1 OCRL GBA GBA2 ALDH18A1 GTPBP2 GTF2I DYM NSD2 SETBP1 CBS USF3 POMT1 COL1A2 TRPV4 ACTL6A GNPTG MECP2 FN1 FHL1 SYT2 SURF1 SLC1A2 AGA CRPPA MIR140 TBL2 DOCK3 ALG9 AUTS2 ITGA7 SNX14 ACTB FKBP10 CLCF1 DSTYK FUCA1 SETD5 NELFA PHF6 SNAP25 PPP1R15B COL6A3 HERC2 CTSK FBN1 COMP NF1 BRAF PMP22 PLAA PWAR1 TTI2 TRIO ERCC1 ERCC8 RAB18 SLC26A2 RAB3GAP2 LIMK1 RET MPLKIP WNT1 P3H1 GRIA3 CCDC8 TCF20 CHAT FOXG1 PTPN11 AIFM1 AGRN SMARCAL1 SMS SOX9 NOTCH2 ALMS1 DNA2 DHCR7 NPAP1 SIL1 EBP UBTF NEMF PRX DVL3 SNORD116-1 SLC18A3 MEGF8 SBF2 TBC1D20 VAMP1 CHRNG USP7 FKRP AIP PAPSS2 HSPG2 MAP2K1 GNPTAB DPF2 PUS1 TBX5 SIN3A PMM2 EIF2AK3 LETM1 MPZ COL13A1 KMT2E DNMT3A NDUFAF1 FUT8 MKRN3 SNORD115-1 MESP2 TONSL PRPS1 MED25 POLD1 CTDP1 SHROOM4 RUNX2 L1CAM COL1A1 PEX7 WIPI2 LAMA2 UPF3B SMARCD1 PIK3R2 KCNAB2 POLR3A RIPPLY2 ATP6V1B2 ZBTB20 PTCH1 ERCC2 BIN1 SRD5A3 RYR1 DLL3 NONO RECQL4 IDUA GTF2H5 TRAPPC2 KLC2 CANT1 RAB3GAP1 PNKP GDAP1 MAN2B1 MYL2 HACE1 MBTPS1 AEBP1 PHF8 COL6A2 PTEN OBSL1 GABBR2 NSD1 TAF1 CLIC2 FA2H NDUFAF4 NOTCH3 TCTN3 ATP6V1E1 PSMD12 NDN WDR81 ARID1A TGFB3 SDHB ELN PIK3C2A CDKL5 GABRD SLC39A13 AIMP1 CCN6 SEC24D H1-4 SMARCC2 SCARB2 ERCC6 STXBP1 SLC10A7 ZC4H2 MFN2 PDE11A WDFY3 MEIS2 HLA-B PPP1R12A ASXL2 SMARCB1 GJB1 FGFR3 RERE SNRPN TMEM165 RPS6KA3 VPS37A MGAT2 GORAB RNF113A PTDSS1 TMEM43 ATP6V0A2 SH3PXD2B EXTL3 RAB23 MYT1L TUBB4A ARID1B ROBO3 DKK1 AMER1 VPS33A TRMT1 SEC23B MAPK8IP3 ACTL6B PIK3CA ANKRD11 HMGB3 MRPS34 B4GALT7 GTF2E2 MED13 SLC5A7 GTF2IRD1 SLC52A3 VPS13B BMP1 ATAD1 NAA10 TANC2 KLLN RFC2 WDR45B RBM28 TGFB1 MGME1 JPH1 FLNB HRAS EZH2 DYRK1A SNRPB NUP107 USP8 DDX6 NARS1 DSE WASHC5 GPR101 PPIB MYH3 LHX3 SMARCE1 SDHD SON SUFU LBR SMARCA4 TPM2 MED12L COG1 MMP2 SKI GLE1 KCNA1 LMOD3 NUP88 EMD DVL1 EXOC6B FLVCR1 SETD2 SYNE2 MBTPS2 NEPRO SELENON CFL2 TBX2 KCNN3 GZF1 AIMP2 CHST3 CHST14 KIF22 TUBB3 NPR2 PTCH2 TLK2 CRLF1 ZMIZ1 DLK1 TOR1A FLNA SH2B1 BCOR MAPT ERCC3 SPART RSPRY1 SLC25A1 XYLT2 UBA1 CUL4B NRAS NXN NEB ALDH3A2 COL11A2 NSDHL HGD SPG11 GALNS P4HTM SOX11 SVBP FKBP14 LAS1L BGN DCC MVK APC2 HERC1 MEG3 CUL7 HACD1 PRDM16 NEU1 RTL1 TFAP2A CSF1R SDHC TPI1 ERLIN2 TARS1 CLP1 KRAS SLC52A2 TPM3 RLIM NDUFS3 CTBP1 BPTF PWRN1 MESD PRKAR1A MADD ROR2 FGFRL1 LRP5 WNT3A GUSB UFSP2 STAC3 FKTN PLOD1 BCORL1 BAZ1B MYO9A IKBKG EGR2 PUF60 ZMPSTE24 HGSNAT POP1 KLHL41 TMEM231 GNAS LFNG MTTP YARS2 P4HB TRAPPC4 FARS2 SVIL HP_COXA_VARA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VARA COMP RUNX2 EXT2 TRAPPC2 ORC6 SBDS MMP13 CANT1 SERPINF1 PEX5 COL1A2 COL2A1 FKBP10 ATP7A PCNT RSPRY1 DDRGK1 TONSL HSPG2 PCYT1A KDELR2 TCIRG1 MATN3 WNT5A ATP6V0A2 EXT1 XYLT1 FLNB IHH DVL3 UFSP2 SLC2A10 COL10A1 COL9A1 MEGF8 CFAP410 POP1 TRPV4 SRP54 COL9A2 DVL1 RNU4ATAC COL9A3 DNAJC21 DMP1 RPL13 FN1 ENPP1 PRG4 AIFM1 CCN6 COL1A1 FZD2 CRTAP TBX4 NKX3-2 ADAMTS2 HP_ABNORMALITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_KNEE CLIP2 EXT2 COMP MMP13 SOX4 ATP7A EVC AP4M1 XYLT1 DDRGK1 FBN2 TBX1 ATRX PRMT7 ARFGEF2 ARID2 KY LMBR1 TPM2 SKI LOXL3 ACTA1 PIEZO2 COL1A2 ANKLE2 CTNS MAP3K20 GABRG2 COL12A1 KIF22 OCRL SEC24C NSD1 GLI3 SPART GTF2I DYM SLC35A3 CBS COL9A2 COL10A1 COL9A3 COL2A1 CDT1 GNPTG RNU4ATAC MATN3 BCOR FN1 EP300 UFSP2 GLI1 COL11A1 TELO2 MIR140 TBL2 LMX1B SHOX ITGA7 PCDH19 GLB1 GP1BB CDC6 SDHAF1 HERC2 PHEX CREBBP FBN1 SDHA GPC6 IHH NF1 SFRP4 C12orf57 ORC1 PWAR1 PTDSS1 LIMK1 TRPV4 GDF5 GRIA3 CLCN7 TRPS1 GABRD GMNN ENPP1 NOTCH2 COL5A1 SLC26A2 NPAP1 FKBP10 YY1 SNORD116-1 TNFSF11 MEGF8 CHRNG RECQL4 PLOD2 CENPT ARL6IP1 KIF7 HSPG2 DPF2 BPNT2 RBM8A GMPPB IFT172 EIF2AK3 COMT COG5 IFIH1 MKRN3 BHLHA9 SNORD115-1 TBC1D7 COL6A3 CDC45 FDFT1 FLNA SLC39A8 RPL10 PKDCC CHST11 B3GAT3 PEPD ZEB2 SMARCD1 AP4S1 PIK3R2 BICD2 PTEN RAB23 MAP2K1 DONSON DYNC2LI1 EXOC6B ZBTB20 IFT57 AP4B1 SCN1B STXBP1 AIFM1 SRD5A3 CA2 GNPTAB EVC2 SIK3 RUNX2 ZSWIM6 CANT1 MYL2 PIGY TRIP11 HS6ST1 AEBP1 LGI4 ABCC6 COL6A2 ADGRV1 KAT6B LAMB2 EXT1 ATP6V1E1 PUS3 NDN ARID1A B4GALT7 COL7A1 ELN B3GALT6 LIFR RYR1 NT5C2 IDUA CCN6 GABRA1 SMARCC2 ORC4 SLC10A7 SDHB UGP2 SMARCB1 CSGALNACT1 SCN2A RAB33B SNRPN SCN9A HPGD FGFR3 TONSL TBX4 ALG2 SH3PXD2B FZD2 FGD1 COL5A2 USP9X CTC1 UFD1 HCN1 ARID1B NALCN ERLIN1 ARF1 GTF2IRD1 COL1A1 VPS13B AP4E1 RREB1 ESCO2 DMP1 RPL13 RFC2 TMTC3 NRAS SMAD3 HIRA TGFB1 CYP27B1 FLNB GJB2 EZH2 DDR2 ASAH1 MAN2B1 ORC6 GFPT1 ANO5 SLCO2A1 COL9A1 STX1B UNC80 VDR WNK1 RMRP MYH3 ERCC6 NLRP3 PRKACA PITX1 SMARCE1 ERLIN2 PSAT1 SMARCA4 MCTP2 LMOD3 PTH1R ANAPC1 EFL1 NDUFAF6 NEPRO CYP2R1 CHST3 SELENON CFL2 MYOT MAGEL2 MAP1B JMJD1C TUBB3 MAP2K2 WNT7A CTDP1 CYP19A1 RSPRY1 SCARF2 BAG3 SDHD CNTNAP1 KRAS TRIM2 IARS2 NEB BRAF HBB GALNS SOX11 EBP SLC18A3 PSTPIP1 GAN SLC6A9 ACAN HACD1 SCN1A MYO9A ALG14 LONP1 COLQ MTX2 NEDD4L NKX3-2 WASF1 TCTN3 SATB2 PRKACB TPM3 DPAGT1 ERMARD C19orf12 CYP3A4 ARVCF PWRN1 KAT6A MCOLN1 SERPINH1 MAP3K7 GUSB TOR1A CPT2 COL6A1 HRAS BAZ1B DHX16 RETREG1 KLHL41 FLNC RTTN DYSF ARSB PLOD1 KIF1A DPM1 SVIL HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY TP53 HSPA9 LRP5 EXT2 COMP COL2A1 SBDS MMP13 PUF60 SOX4 SERPINF1 COL11A1 PEX5 MGAT2 FGFR3 ATP7A GORAB XYLT1 DDRGK1 TONSL TCIRG1 FLNB WNT5A LTBP3 ARID2 BRCA1 ATP6V0A2 TENT5A CTC1 SLC26A2 ARID1B GPC6 CYP27B1 SLX4 NANS UFSP2 ARCN1 TRPS1 EXT1 B3GALT6 FANCB MMP9 CYP2R1 GNAS KIF22 GLI3 MEGF8 CFAP410 HSPG2 COL9A2 FANCM RNU4ATAC COL10A1 COL9A3 DNAJC21 GNPTG MATN3 KCNJ8 POR KIAA0586 DMP1 RPL13 PALB2 SGMS2 FN1 PRG4 FGFR2 TGFB1 FIBP FUCA1 EP300 SEMA3E POLR1A ANKH RPS6KA3 EZH2 IFT140 MAN2B1 BCR MIR140 ORC6 LIFR FKBP10 RSPRY1 FANCI SHOX GLB1 XRCC2 ERCC6 NGLY1 SMARCE1 LMX1B CHD7 TRPV4 COL1A2 FBN1 SMARCA4 COG1 TBXAS1 RAD51C PHEX CREBBP COG4 IHH DVL3 SLC2A10 ORC1 NEK8 SRP54 SETBP1 RET GDF5 COL1A1 COL9A1 P3H1 ATRX BHLHA9 NEPRO FANCE CCDC47 ACVR1 DVL1 ADAMTSL2 SMARCAL1 PLOD3 LBR ENPP1 SOX9 FZD2 INPP5K SIL1 RAD51 CRTAP DLK1 CHD4 BMPR1B ADAMTS2 WNT7A FLNA PLOD2 TAPT1 TRPV6 TBX15 PCNT SCARF2 PCYT1A DPF2 RASA1 ABCC9 RBM8A CHST3 EIF2AK3 FANCD2 IFIH1 DYNC2H1 EXTL3 RMRP POLR3A COG8 TRIP11 PDE4D PLEKHM1 BRIP1 EED GALNS DYM SOX11 PSAP CRKL RUNX2 BGN GLA TREX1 SMARCD1 ACAN TNFRSF11A CANT1 MEG3 RAB23 MAPK1 RTL1 ZMPSTE24 EXOC6B ERCC4 SLC34A3 STXBP1 MTX2 TMEM67 NKX3-2 FANCF GTF2E2 IDUA GJA1 TRAPPC2 AMMECR1 SLC12A2 GBA KDELR2 EFL1 ALG12 BRCA2 MADD SLC35A2 RINT1 RB1 CDC6 FANCC ZBTB16 ARID1A B4GALT7 CSPP1 DYNC2I1 TGFB3 NFIX VDR PIK3C2A SLC39A13 CLCN5 TMEM38B FANCL POP1 UBE2T RFWD3 SMARCC2 FANCG SLC10A7 FANCA CHEK2 COL11A2 MAD2L2 AIFM1 CCN6 AGPS IFNGR1 SMARCB1 CLCN7 TBX4 CSGALNACT1 TRAF3IP1 RAB33B POC1A LMNA HP_CAUDAL_APPENDAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDAL_APPENDAGE COLEC11 MASP1 TRPV4 COLEC10 FAT4 DCHS1 HP_MULTIPLE_JOINT_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_JOINT_CONTRACTURES RNASEH2B ADAR GTF2H5 RAPSN FLNA POMT2 DOK7 TRIP4 ERCC3 RNF113A MYOT COL12A1 SELENON RNASEH2A LMNA PMM2 MED12 UBA1 SAMHD1 GPKOW POMT1 RYR1 RFC1 GMPPB KLC2 MUSK MYBPC1 LARGE1 B3GALT6 NDE1 PIP5K1C SLC18A3 MPLKIP MYH7 GTF2E2 NUP88 ALG14 COL6A3 MYOD1 PIGS SLC39A14 TREX1 FLRT1 SLC1A4 VPS11 RTTN ZMPSTE24 RNASEH2C RBM28 TGM1 ERCC2 DNA2 COL6A2 TARS1 COL6A1 IFIH1 FKRP TTN HP_ARTHRALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRALGIA NOD2 CLIP2 CR2 COL2A1 PADI4 IL6 STAT4 HPGD PCSK9 POMP SPP1 SEPTIN9 COMP ABCG5 COL5A2 F8 XPC DDB2 MEFV ABCG8 PTPN2 PSTPIP1 TNXB TNFSF12 IL23R PSMB8 PTPN22 OTULIN CD81 IL10 FAS GTF2IRD1 GTF2I UBA1 CAV1 HFE COL1A1 DSE RNU4ATAC GNPTG IL2RB SRSF2 RFC2 TET2 IL12B TNFRSF1A UFSP2 NLRC4 VCP COL11A1 NLRP3 ANKRD55 ASAH1 LPIN2 TNFRSF11B TBL2 ASXL1 SLCO2A1 GPR101 MYH3 IL2RA CD244 MAFB CLCNKB LMNB2 UBAC2 PHEX NLRP12 MMP2 SFRP4 XPA LACC1 CD247 LIMK1 COL10A1 MS4A1 SLC40A1 JAK2 PSMB9 HGD MSMO1 IL12A CCR6 CHST3 NFKB1 IL12A-AS1 CTNNB1 COL5A1 IRAK1 SLC26A2 CBL C4A MVK SLC22A4 EPOR MLX TNFRSF13C AIP ERCC3 ASPN TRPS1 MIF COL9A1 ANKH CCR1 FTL LDLRAP1 HBB ERCC5 TREX1 TYROBP COL11A2 COPA ENPP1 PKDCC PSMB4 GLA LEMD3 TREM2 PRTN3 APOB TRAPPC2 ERAP1 TLR4 ERCC2 IL1RN ABCC6 MATN3 HLA-DPA1 PIGT ADA2 LDLR NFKB2 APC CTLA4 NOTCH2 RUNX1 HLA-DRB1 IRF5 BAZ1B HLA-B ELN MPL KLRC4 SLC12A3 TNFRSF13B CCN2 LMNA HLA-DPB1 STING1 C1S ERCC4 ATP7B CD19 NFKBIL1 PTH1R PRKCD PLCG2 CIITA MFN2 ICOS HP_CALCIFIC_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFIC_STIPPLING PEX5 EBP GNPAT HSD17B4 PEX2 HP_ASPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION GM2A HEXA ATXN8OS MATR3 SPECC1L GPHN SYCE1 DHX16 FOXG1 GLRA1 GRM7 SRPX2 EP300 LRP12 ADNP ADGRG1 MID1 CREBBP DCX LAMA2 PI4KA SEC31A HP_RECURRENT_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHITIS CR2 MS4A1 TNFRSF13C MAGT1 NBN TNFSF12 TNFRSF13B EGFR CD81 ATM CD19 GNPTAB CD79A ICOS GAS8 TAP1 NFKB1 MGP IL17RA CD79B RPGR HYDIN DNAAF1 PRKCD NFKB2 DNAJB13 IL2RG TAPBP TAP2 HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION SPG11 SPG7 ZFYVE26 VCP HNRNPA2B1 FXN MMP1 ATL1 COL7A1 ABCD1 ATXN3 KIF5A ATXN1 KIF1A GJC2 SPAST WWOX REEP2 ATXN2 WASHC5 RTN2 AP5Z1 HSPD1 NIPA1 GBE1 FMR1 SETX HNRNPA1 PIK3R5 HP_LYMPHADENITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHADENITIS ZAP70 RAG1 RAG2 RAC2 NCF2 NCF1 CYBA CXCR4 MYD88 MVK CYBC1 CYBB STAT2 HP_ABNORMAL_T_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_MORPHOLOGY ZAP70 JAK3 IL7R RFXAP CD3E PIK3CD MAGT1 IVNS1ABP NBN CASP8 ATM FAS IL2RG FOXP3 LCK CASP10 NSMCE3 RFX5 EXTL3 LEP RAG2 NCKAP1L BTNL2 FOXN1 RAC2 RASGRP1 ACP5 DCLRE1C WIPF1 ADA RAG1 CTPS1 CIITA FASLG CD247 PTPRC SP110 OTULIN MYC CD3D HLA-DRB1 PNP DOCK8 AP3B1 EPG5 CD8A PGM3 ATP6AP2 WDR1 SMARCAL1 CD3G CD4 NHEJ1 PRKCD LEPR IL2RA KNSTRN DNMT3B BLM RFXANK IL7 ITK HP_ABNORMAL_B_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_B_CELL_MORPHOLOGY JAK3 STAT1 PIK3CD IVNS1ABP NBN IL6R PRKCD CASP10 RAG2 FAS NCKAP1L RAC2 MYSM1 RASGRP1 ICOS ADA RAG1 CTPS1 TCF3 TRNT1 SP110 MYD88 DOCK8 TBX2 WDR1 NHEJ1 TET2 LRBA GFI1 BACH2 DCLRE1C IL2RA IKZF1 KNSTRN NFKB2 CARD11 IGHM FASLG HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL FAS COG6 PRKCD CASP10 WAS MAGT1 IL2RA RASGRP1 FASLG HP_DECREASED_CIRCULATING_TOTAL_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGM JAK3 CR2 PIK3CD WAS IVNS1ABP LAMTOR2 CASP8 RASGRP1 IL6R IL2RG CD19 RNF168 CASP10 PIGT FAS ICOS CTLA4 EXTL3 RAG1 RAG2 TNFRSF13C TNFRSF13B PRKCD LRBA CNBP BACH2 KNSTRN RAC2 TCN2 ADA BLM PLCG2 CARD11 IKBKG FASLG HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS FAS FASLG PRKCD CASP10 RASGRP1 HP_GENU_VALGUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VALGUM COMP CLIP2 EXT2 FLNA CENPT CYP19A1 ATP7A EVC RSPRY1 KIF7 TONSL HSPG2 ATRX COL11A1 BPNT2 IFT172 CHST3 KRAS EIF2AK3 SHOX IARS2 RAB23 NEB COG5 IFIH1 SKI LOXL3 CTC1 SLC26A2 MKRN3 SNORD115-1 CTNS BRAF EXT1 HBB GALNS DYM KIF22 OCRL NSD1 B3GAT3 GTF2IRD1 PEPD SPART GTF2I ZEB2 GAN CBS COL9A2 VPS13B ACAN COL9A3 COL2A1 GNPTG MATN3 BCOR RFC2 MAP2K1 FN1 GLI1 DYNC2LI1 LONP1 TGFB1 ZBTB20 IFT57 MTX2 CA2 NKX3-2 EVC2 MAN2B1 RUNX2 TBL2 PRKACB COL9A1 HS6ST1 VDR GLB1 TRPV4 PRKACA PWRN1 KAT6A SERPINH1 HERC2 TPM2 PHEX GUSB NF1 PUS3 ACTA1 NDN MCTP2 SFRP4 ORC1 LMOD3 PWAR1 BAZ1B LIMK1 ELN B3GALT6 LIFR NDUFAF6 CLCN7 IDUA NEPRO FBN1 CFL2 KLHL41 TRPS1 MMP13 COL1A2 SLC10A7 MAGEL2 NOTCH2 UGP2 NPAP1 ENPP1 TUBB3 CSGALNACT1 ARSB RAB33B SNORD116-1 TNFSF11 MAP2K2 MEGF8 SNRPN HP_MENINGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGIOMA NF2 PDGFB TRAF7 CDKN1B TERT CDKN1A ARMC5 NTHL1 PIK3CA SMARCB1 SMARCE1 KRIT1 PTEN MN1 SUFU CDKN2C SDHD CHEK2 GNAS CREBBP AKT1 NF1 SEC23B NRAS PDCD10 SDHB BAP1 CDKN2B LMNA USF3 CCM2 MEN1 KLLN WRN EP300 SDHC SMO HP_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOSARCOMA DICER1 NBN KEAP1 MC1R BUB1B BUB3 TRIP13 PAX7 NRAS MLH1 CDKN2A FOXO1 PAX3 SLC22A18 TP53 MDM2 CEP57 NF1 PTCH1 CHEK2 BUB1 HRAS HP_SQUAMOUS_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA STAT1 GTF2H5 RECQL4 MVK NTHL1 ING1 TMC6 ERCC4 ERCC3 RNF113A WNT10A DDB2 WWOX CDKN2A COL7A1 TERC TMC8 LAMB3 OCA2 SLX4 WRAP53 RSPO1 ERCC5 TNFRSF10B RNF6 LMNA GJB2 LAMC2 SLC17A9 ERCC2 XPC NUTM1 TERT GJB6 TYR KRT5 PSENEN TGFBR2 MPLKIP ANAPC1 MMP1 GTF2E2 BRD4 CTSC DOCK8 LAMA3 TINF2 CIB1 MC1R LZTS1 MVD KRT14 NLRP1 SASH1 IL7 POLH FDPS DKC1 TARS1 DCC FERMT1 BLM WRN HP_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOMA RAD51D TP53 RECQL4 SF3B1 CDKN2A PALB2 ERCC3 ERCC4 CXCR4 DDB2 BRIP1 RAD51 OCA2 SLC6A17 XPC NRAS TERT BAP1 SEC23B KANSL1 CDKN2B PIK3CA TRPV3 ERCC2 ERCC5 PTEN CTSC ACD USF3 KLLN MBTPS2 PALLD POLH NBN CDK4 SDHC BRAF PTPN11 RABL3 MC1R DMPK BRCA1 KRAS GNAQ RNF43 COL7A1 MITF RAD51C CHEK2 SDHD PERP POT1 AKT1 XPA CYSLTR2 TYR SDHB ERCC6 ANAPC1 MMP1 HRAS GNA11 TERF2IP MGMT RAF1 BARD1 BRCA2 MDM2 SMAD4 MRE11 RAD50 WRN HP_MYELODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELODYSPLASIA SRP54 JAK2 RECQL4 DDX41 SBDS BUB1B GFI1 CDKN2A BRCA1 RUNX1 TET2 TSR2 GINS1 FANCD2 MPL MYSM1 THPO RPS17 SRSF2 SLX4 GNB1 RPL11 TERT NF1 ASXL1 RPS19 BRIP1 BUB1 FANCB SAMD9 ATRX BUB3 TP53 SF3B1 PIGA UBA1 FANCM ADA2 HAX1 DNAJC21 RPL35A RPS10 RPS14 RPL35 RPL15 RPS7 PALB2 SMARCD2 RPL31 ERBB3 CEP57 ERCC4 HSPA9 GATA2 SAMD9L BRAF SRP72 PTPN11 FANCF LIG4 FANCI TERC XRCC2 EFL1 RPS24 GATA1 BRCA2 RFWD3 RPL26 GFI1B RPS26 RPS28 FANCC RAD51C NAGS CHEK2 RPS29 RPL18 CALR ANAPC1 FANCL TRIP13 FANCE TINF2 UBE2T RPL5 FANCG NBEAL2 SH2B3 FANCA RAF1 MAD2L2 ELANE MDM2 RPS27 RPS15A BLM RAD51 DKC1 KIT TCIRG1 RPL27 HP_HYPOPLASTIC_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIAC_WING WNT7A DYM TRAPPC2 ERCC6 RUNX2 TBX15 HDAC6 EVC PCNT GATA1 EP300 SMAD4 COL2A1 MEG3 CCBE1 SOX9 RTL1 CREBBP IHH DLK1 ARSB EZH2 EED EVC2 ERCC8 HP_ABNORMALITY_OF_THE_ILIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ILIUM VANGL1 WNT7A COL2A1 MMP13 RPS6KA3 TBX15 ATP7A EVC PCNT AEBP1 PCYT1A GNPTAB CEP120 HDAC6 EIF2AK3 EXTL3 RNU4ATAC RMRP POLR3A ACP5 FLNA GLB1 NANS FGFR3 EED B3GALT6 GALNS DYM COL11A1 RUNX2 BGN PLCB3 PTH1R RPS19 GPX4 SLC26A2 SEC23A MEG3 CCBE1 RAB23 GNPTG DMP1 RTL1 LONP1 WDR19 ZBTB20 PAM16 NKX3-2 EZH2 EVC2 DDR2 MAN2B1 IDUA INPPL1 TRAPPC2 PIGN LMX1B AMER1 ERCC6 GPC3 LIFR MATN3 GPC4 TRIP11 EP300 SMAD4 VPS33A SOX9 CREBBP PHEX TNFRSF1A IHH ERCC8 FLNB EXOC6B SLC35D1 IFT81 NEPRO GATA1 DDRGK1 POP1 SEC24D TWIST2 COL11A2 ENPP1 AIFM1 HLA-B KAT6B FUZ DLK1 ARSB HP_NARROW_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_ILIAC_WINGS EIF2AK3 SEC23A COL2A1 NANS RPS6KA3 SEC24D ZBTB20 MATN3 HP_FLARED_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_ILIAC_WINGS GNPTG IDUA IHH B3GALT6 MMP13 GPX4 AIFM1 GPC3 FLNA CREBBP BGN PHEX GPC4 GLB1 TRIP11 GNPTAB EP300 ARSB DDR2 VPS33A RAB23 HP_OBSTRUCTIVE_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_SLEEP_APNEA SATB2 VAMP1 DMPK PCGF2 PLCB4 IDUA TRPV4 SLC25A1 UNC80 OCA2 ATN1 EP300 PIGT NGLY1 DNA2 SNAP25 COL13A1 SIM1 SNRPN CREBBP AHDC1 TERT ARCN1 IDS SLC5A7 BMP2 HRAS MAGEL2 NALCN MYO9A NDN SKI FGFR3 SH3BP2 CHAT CCDC47 POGZ FXR1 EDN1 GNAI3 AGRN NFIX SYT2 SLC18A3 NONO GNPTAB HP_CENTRAL_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_APNEA SHH TDGF1 NODAL TBR1 GLI2 CDON CISD2 STAG2 PTCH1 OCA2 DLL1 FGF8 DISP1 TGIF1 FOXH1 INPP5E SIX3 TMEM216 SNRPN GAS1 TSEN54 MAGEL2 TECPR2 NDN FGFR1 SYT1 WFS1 ZIC2 RPGRIP1L CEP290 SLC2A1 SMC1A FGFR3 AHI1 PSAP HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS PDHA1 MYO9A VAMP1 SNAP25 COL13A1 CHRNE SYT2 CHAT SLC25A1 SLC5A7 SLC18A3 AGRN HP_EXERTIONAL_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERTIONAL_DYSPNEA AK9 MUSK SFTPA1 CHRNA1 NPM1 CYB5R3 ENG MAT2A NKX2-5 ZBTB16 CHRND SURF1 TGFBR2 NABP1 PRKG1 SFTPA2 STN1 STAT5B NEB MUC5B TBX20 PARN STAT3 TET2 RRM2B ACTC1 ACTA2 MYH6 DSP CYB5A CHRNB1 CITED2 SMAD4 TWNK PRKAR1A COL13A1 ATP11A RTEL1 PML SMAD3 ABCA3 PYGM FOXE3 BCOR AGRN GATA6 TRMT5 ELN MYH11 RAPSN CRELD1 ZMPSTE24 TGFB3 DNA2 SFTPC COLQ TBL1XR1 FBN1 MYLK POLG PLEC LRP4 TERC CHRNE RARA SCN4A SH2B3 ACADM LAMB2 NUMA1 MT-TN POLG2 DOK7 TERT TLL1 MFAP5 TGFBR1 GYG1 LOX FIP1L1 GATA4 FAM13A NR2F2 TGFB2 DPP9 CSF2RB MYL3 COA8 IRF2BP2 EPOR SLC25A4 JAK2 LMNA HP_EPISODIC_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_TACHYPNEA KIF7 TCTN1 TMEM237 CDKL5 ACADVL ARMC9 FBP1 FAM149B1 KIAA0753 CEP41 CSPP1 AHI1 TMEM67 KATNIP INPP5E RPGRIP1L STXBP1 GABBR2 CC2D2A TCTN2 ARL3 CPLANE1 TMEM216 CEP290 MECP2 MKS1 TCTN3 ARL13B PDE6D CEP120 B9D1 KIAA0586 CEP104 OFD1 HYLS1 PIBF1 NTNG1 HP_NOCTURNAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURNAL_HYPOVENTILATION NEB COL6A3 MYH7 FKRP TPM2 HNRNPK SELENON SLC52A3 COL6A1 COL6A2 ACTA1 CFL2 KLHL41 LMOD3 TTN HP_RESPIRATORY_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE NME8 NUTM2B-AS1 NDUFS4 TUFM RPGR SURF1 RSPH4A PPARGC1A CHRND LYRM7 CCDC151 ABCA3 NFU1 UNC13A SOD1 BICD2 CHCHD10 NDUFAF2 NAXE GLT8D1 GMPPB CCDC114 CHRNB1 SFTPC NPC2 COL12A1 NDUFB11 COL13A1 NUP188 MEG3 ACTA1 CCDC103 TPM3 MEGF10 DLK1 EPHA4 ZMYND10 CCNO CTSD DNAAF6 ATAD1 PKHD1 SDHA CFAP298 AGRN LRRC6 C9orf72 NEB SLC25A46 STK36 PFN1 CRYAB NEK10 CHRNA1 CCDC65 DNAAF4 ORC4 RSPH1 GAS2L2 GAS8 HADHB CHRNE TRPV4 SCN4A TK2 ASCC1 GLS SMAD4 NEK1 OPTN DNAL1 DNAH11 CDC6 SON DNAH9 UBQLN2 GTPBP3 PON3 LAMC2 GAA LMOD3 SLC2A10 NDUFAF3 GLE1 DNAI2 HRAS TARDBP NBN RNU4ATAC ATXN1 SARS2 MTM1 BOLA3 GATA2 DNAAF1 FIG4 IFT81 MICOS13 DNAH1 NEFH MGME1 ACVR1 CDT1 INVS NDUFS2 TTN SFTPB TAF15 DAO CCNF SUCLG1 HADHA MYOT TMEM70 FOXJ1 RYR1 OFD1 BLM KLHL41 PON2 GALC DNAAF3 GMNN AK9 SPAG1 PTCD3 MUSK CFAP300 VAPB PEX6 DNAH5 DNAAF5 ASAH1 LAMB3 CCDC40 HYDIN TSC2 POMT1 PSAP COL6A3 DZIP1L LARGE1 TREM2 TSEN54 LRRC56 RTL1 PRPH BSCL2 SLC6A9 CFAP221 AHCY OSTM1 SPEF2 NKX2-1 IGHMBP2 TBK1 DRC1 RAPSN MATR3 FUS ORC6 PLP1 RSPH9 ANXA11 DNAAF2 SMN1 UBE3B DMPK TBCD LRP4 TTC12 POMT2 EXOSC8 COX7B TTC25 CHMP2B HTRA2 RNF168 COL6A2 ARMC4 KLHL40 SLC25A26 NDUFB8 IBA57 TSC1 DAG1 ATXN2 CPT2 COL6A1 CFAP410 DOK7 ERBB4 CLPB CDC45 PON1 FLNA ERBB3 LAMA3 LAMA2 HNRNPA1 DNAJB13 MCIDAS MCM4 ORC1 DMD HCCS LTBP3 DCTN1 MTTP VCP SQSTM1 CCDC39 RSPH3 DNAI1 TSFM ANG FKRP FAM20C SCO2 BCHE HP_ANISOSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOSPONDYLY COL2A1 HSPG2 MIR140 TRPV4 FLNA HP_SUDDEN_EPISODIC_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_EPISODIC_APNEA STXBP1 GABBR2 MYO9A VAMP1 SNAP25 COL13A1 CDKL5 CHRNE MECP2 SLC25A20 SYT2 CHAT SLC25A1 FARS2 SLC5A7 SLC18A3 AGRN NTNG1 SLC39A8 HP_HYPERVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERVENTILATION GABRB3 CACNA1H MT-ND4 MT-ND6 CNTNAP2 FBP1 MT-TW NRXN1 JRK TCF4 MT-TL1 MT-ATP6 ARL13B MT-ND1 SYT1 UQCRFS1 CDKL5 MT-ND2 MECP2 CIZ1 GABBR2 HLCS BTD MT-ND3 MT-TV MT-TK MT-ND5 GABRG2 CPLANE1 GABRA1 SLC2A1 HP_HEPATOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOBLASTOMA TTC37 CDKN1C APC IGF2 RTL1 SLC37A4 KCNQ1 KCNQ1OT1 SETBP1 DZIP1L SKIV2L DLK1 GPC4 PKHD1 GPC3 MEG3 HP_MEDULLOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDULLOBLASTOMA DICER1 PALB2 APC KEAP1 BRCA2 SUFU NBN PTCH2 SMARCB1 MLH1 CDKN2A TP53 CTNNB1 MDM2 PTCH1 CHEK2 HP_EPENDYMOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPENDYMOMA TSC1 MEN1 APC CDKN2C CDKN1B IFNG TP53 CDKN1A ERBB2 CDKN2B MDM2 TSC2 C11orf95 RELA SETBP1 CHEK2 NF2 MLH1 CDKN2A IDH1 HP_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_CARCINOMA BMPR1A APC KEAP1 FOXE1 DMPK CDKN1B CDKN1A SEC23B PRKAR1A CDC73 CASP10 CDKN2A KCNJ10 NRAS FOXI1 FAS HABP2 CDKN2C SDHD RET MINPP1 AKT1 CHEK2 DICER1 SLC26A4 PIK3CA JAG1 SDHB GREM1 FLCN CDKN2B RASGRP1 HRAS PTEN USF3 SRGAP1 MEN1 KLLN PRKCD TP53 NKX2-1 MDM2 TG SDHC FASLG WRN HP_PITUITARY_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_ADENOMA PRKAR1A MLH3 APC USP8 GANAB PKD1 CDKN1B FAN1 PIK3CA CDKN1A CDKN2B AIP RPS20 MEN1 GPR101 PMS1 TGFBR2 PMS2 KRAS CDH23 CDKN2C MSH6 GNAS TSC1 TSC2 PKD2 SEMA4A BICC1 BMPR1A MSH2 MLH1 IDH2 EPCAM IDH1 HP_NEOPLASM_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PANCREAS RAD51D STK11 TP53 APC BRCA2 KRAS CDKN1A PALB2 PRKAR1A CDKN2A MEN1 BRIP1 RAD51 TERC TGFBR2 PMS2 GCGR CDKN1B CDC73 CDKN2C RTEL1 TERT BAP1 SPINK1 COL14A1 CDKN2B USB1 FAN1 PTEN ACD MSH6 PARN PALLD NBN MAFA MLH1 NOTCH3 RABL3 EPCAM MLH3 CCND1 TINF2 NPM1 PIK3CA CDK4 NTHL1 BRCA1 RNF43 MITF RAD51C FLI1 CHEK2 PMS1 CLCNKB NUTM1 SMAD4 POT1 SLC12A3 BRD4 VHL RPS20 NOP10 PDGFRB MC1R TERF2IP MGMT CTC1 BARD1 AAGAB WRAP53 EWSR1 MDM2 NHP2 SEMA4A BMPR1A MSH2 MRE11 WT1 DKC1 RAD50 HP_PAPILLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_THYROID_CARCINOMA APC FOXE1 NKX2-1 SEC23B MINPP1 HRAS DICER1 SRGAP1 JAG1 NRAS HABP2 HP_NEOPLASM_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LIVER UROD RPGRIP1L MST1 IL12A SLC37A4 TP53 SMPD1 WT1 APC CC2D2A AXIN1 C11orf95 PRKAR1A PYGL JAK2 ABCB11 CPOX TGFBR2 PMS2 TTC37 SERPINA1 KRAS ATP7B HBB FAS SPIB HNF1A PALB2 DIS3L2 PIK3CA INS KLF11 FAH PAX4 ABCC8 MMEL1 HFE DZIP1L GPC4 F5 JAG1 STAT6 GCK GNAS TRIM28 FAN1 IGF2 MSH6 CDKN2A TJP2 MLH1 SETBP1 CEL AHCY PKHD1 HNF4A MEG3 CASP8 SLC25A13 PRKCD PALLD BMP2 RTL1 MET BRCA2 PHKA2 GPR35 IL12RB1 EPCAM GPC3 MLH3 HMBS TMEM67 G6PC BRCA1 IGF2R RELA CASP10 INPP5E PMS1 POU2AF1 SLC2A2 PHKG2 H19 REST SKIV2L APPL1 TRIP13 IRF5 TNPO3 TNFSF15 PDX1 RASGRP1 SPRTN RPS20 KCNJ11 KCNQ1 KCNQ1OT1 POU6F2 MSH2 NEUROD1 PDGFRL CDKN1C NAB2 CTNNB1 SEMA4A BMPR1A SMAD4 DLK1 TCF4 BLK FASLG PPOX HP_PARATHYROID_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_ADENOMA CDKN1B CASR GCM2 CLCNKB FLCN MEN1 SLC12A3 TSC1 TSC2 PRKAR1A NF1 CDC73 IDH2 IDH1 RET HP_EMBRYONAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_NEOPLASM H19 WT1 APC BUB1B NR5A1 RB1 TTC37 CDC73 DIS3L2 FIBP DZIP1L GPC4 BUB1 ALX4 TRIM28 NSD1 BUB3 IGF2 APC2 ZFPM2 SRY SETBP1 TRIP13 PKHD1 MEG3 DHX37 BRCA2 PAX6 RTL1 POU6F2 CEP57 DICER1 EXT2 NR0B1 VAMP7 DMRT3 GPC3 PALB2 BMPER TRIM37 SOX9 SLC37A4 PIK3CA KCNQ1OT1 TP53 GATA4 SLC22A18 MNX1 CHEK2 HDAC4 REST SKIV2L SETD2 KCNQ1 PHF21A CDKN1C MSH3 PTCH1 BLM MAP3K1 DLK1 WWOX HP_HYPOKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIA SCNN1A GATM HSD11B2 TRDN USP8 SCN5A ATP6V0A4 SCNN1B KCNE3 CTNS SLC12A1 GABRA3 NOS1AP CACNA1C SCNN1G SLC4A1 KCNQ1 KCNJ10 SLC26A3 KCNJ1 CAV3 SNTA1 SCN4A CLCNKB CDH23 CACNA1D CYP17A1 SLC34A1 KCNJ2 AIP NDUFAF6 BSND KCNJ5 INSR CASR CYP11B1 SLC2A2 KCNE1 FXYD2 NR3C1 OCRL SLC12A3 CALM3 CACNA1S KCNE2 MAGED2 SMAD4 KCNJ18 SCN4B KCNH2 CYP11B2 CLDN10 COL3A1 AKAP9 CALM2 BMPR1A CLCNKA CALM1 EHHADH TP53 SCN10A ATP1A1 CLCN2 ANK2 HP_HYPOCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIA TBCE GNAS DGCR8 CLCN7 UBR1 ADAMTS3 FAM111A TBX1 BTK FOXP3 IFT122 VDR RMRP DGCR6 GP1BB GCM2 CYP3A4 CAMKMT ARVCF ALG12 FARSB FGF23 CTNS GNAS-AS1 STX16 CLCNKB CHD7 FAT4 COMT CASR HADHB UFD1 TCIRG1 CACNA1C SLC4A1 CYP27B1 PREPL PRKAR1A TNFSF11 GNA11 TRPM6 PIK3C2A SEC24C ACADVL CCBE1 SLC12A3 CYP2R1 PTH ESS2 OSTM1 RREB1 TNFRSF11A PPM1B CAV1 PDE4D HADHA PLVAP HIRA SNX10 JMJD1C CSF1R SEMA3E ORAI1 DGCR2 GATA3 SLC3A1 HP_HYPERPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHOSPHATEMIA TBCE GNAS GALNT3 PGAP2 FAM111A TNFRSF11B GCM2 PTH GNAS-AS1 PDE4D STX16 PRKAR1A KL CASR CACNA1S RYR1 GNA11 HP_MICROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROSCOPIC_HEMATURIA F2 LPIN2 LMNB2 CLCN5 INF2 COL4A5 LMX1B KCNE5 AMMECR1 FN1 CTNS NUP85 ADAMTS13 ACSL4 HP_CONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUGATED_HYPERBILIRUBINEMIA VPS33B SLCO1B3 SLCO1B1 IL12A SPIB SLC2A1 VIPAS39 ABCC2 IRF5 TNPO3 TNFSF15 GPC1 ATP8B1 ABCB11 SLC17A5 MMEL1 GLRX5 IL12RB1 POU2AF1 HP_GENERALIZED_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMINOACIDURIA SLC34A1 ETFA ETFDH NDUFAF6 SLC2A2 FAH CYP27B1 ETFB CYP2R1 GATM EHHADH CTNS NGLY1 DGUOK HP_ELEVATED_HEPATIC_TRANSAMINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEPATIC_TRANSAMINASE VPS33B RNASEH2B TMEM165 CR2 SLC37A4 SBDS CD46 ERCC4 ERCC6 ACADM SLC25A15 HNF1B NR1H4 UQCRC2 ALMS1 FARSB CCDC115 CAVIN1 LARS1 BCS1L ACOX1 RAG2 COG6 SAMHD1 CPT1A HNF1A BSCL2 PYGL HNF4A TKFC HFE FARSA PRF1 ACADVL ADK CFI ALG6 TNFSF12 PSMB8 SP110 HAMP CD81 CDKN2A OCLN SRD5A3 MARS1 CBS DHDDS SLC25A13 DNAJC21 IL18BP USP18 KIAA0586 ABCB4 ABCD3 C8orf37 PALLD DMD VPS13A TRMT10C TANGO2 PHKA2 RBCK1 TYMP ASAH1 CFH COG2 SLC7A7 ADAR ALAS2 PMM2 POLG2 ATP6AP1 TMEM67 NRXN1 G6PC HADHB TWNK COX5A PRKCD LHX1 INPP5E PEX16 NGLY1 TRAPPC11 LIPT1 SDHD DAXX CPT2 PHKG2 BCAT2 GAA MPV17 GLRX5 TREX1 SRP54 ACAD9 SLC22A5 ABHD5 MS4A1 FAH AKR1D1 CNTNAP2 ASL DCDC2 PSMB9 PGM1 MICOS13 ALG11 CORIN CYP7B1 ATRX POLG COG7 ACSF3 CYC1 NFKB1 IARS1 SUCLG1 ALDOB SCO1 STEAP3 RNASEH2C AGL BRCA2 MRPS28 MYH9 AMACR MRPL44 HSD3B7 HELLPAR FLT1 IFT172 IFIH1 IKZF1 RPGRIP1L MST1 KIF23 TP53 TNFRSF13C CC2D2A GDF2 F5 SERPINA1 EIF2AK3 PALB2 COG5 VIPAS39 GPC1 SLC25A20 HADHA COG8 RRM2B HADH SLC30A10 C1QBP OFD1 NOS3 FADD DGUOK JAG1 POLD1 MRPS16 PSMB4 MVK PEX13 ABCB11 FAN1 AHCY ATP6AP2 RAG1 FBXL4 MRPL3 BMP2 YARS2 MTX2 PEPD GPR35 PEX19 HSD17B4 LYST DMPK BRCA1 KRAS DDOST FBP1 FOXP3 RNASEH2A GYS2 ERCC8 GPD1 EFL1 DPM3 IER3IP1 PNPLA2 SAR1B SLC35A2 ATP8B1 TFAM DOLK ATM RINT1 JAK2 PKHD1 NSMCE2 SLC2A2 HMGCL COG4 ADA2 DPM2 GNMT NFKB2 STOX1 AGPAT2 NBAS DLD HLA-B CSPP1 LBR GALT CLPB DNAJC19 TNFRSF13B SC5D TMEM199 DPAGT1 ATP7B WDR35 TRMU CD19 MTTP HJV SMAD4 TCF4 TFR2 GNE DPM1 SLC25A4 PPOX ICOS HP_METHYLMALONIC_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDEMIA MCEE MMAB MMACHC MMAA ABCD4 CCN6 MMADHC LMBRD1 HCFC1 SUCLA2 PRDX1 MMUT ACSF3 HP_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOGLOBINURIA HADH PHKA1 PGAM2 LPIN1 ANO5 CPT2 FKRP HADHB PGK1 ISCU COQ2 PYGM PFKM SGCB CACNA1S DMD ACADVL HADHA RYR1 TANGO2 PHKG2 CRPPA PHKA2 LDHA HP_HYPERCHLORIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLORIDURIA CLCNKA CLCNKB BSND SLC12A1 KCNJ1 HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION TSC1 RAI1 ESCO2 MECP2 BUB1B SHH LBR GJA1 SEC23B CDAN1 TRIP13 NKX2-5 HP_HYPERMAGNESEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESEMIA AP2S1 CASR CLCNKB GNA11 SLC12A3 ALDOB CLDN10 HP_KETONURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETONURIA ACAT1 PDX1 MMAB MCCC1 PCK1 MMAA GCK GYS2 COX14 ABCC8 SLC25A13 STAT3 TANGO2 MCEE KCNJ11 GCDH HMGCL MMACHC SLC16A1 CA5A INS MCCC2 OXCT1 HP_DECREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ACTH_LEVEL HESX1 ARMC5 LHX4 TRAF7 TERT AKT1 FOXA2 CDH23 PROP1 NF2 SMARCE1 PDGFB GLI2 PRKAR1A AIP MEN1 BAP1 SUFU GNAS PDE11A PIK3CA OTX2 NFKB2 POU1F1 SMARCB1 SMO SOX3 HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID RNASEH2B NDUFS4 NDUFA4 NODAL FKRP NDUFA13 RAC3 ARMC9 RSPH4A HBA1 TBX1 SMARCE1 SF3B4 KIAA1109 LONP1 AP1S2 TMEM231 BRCA1 FGFR1 NDUFV1 SAMHD1 BTNL2 DISP1 SKI FGFR3 RPGRIP1 CCDC22 MMACHC EOGT ZNHIT3 MT-ND1 LARGE1 B9D1 SIX3 CCDC114 NOTCH1 KANSL1 CEP55 IDS HBA2 SUMF1 ZBTB24 FGFR2 DNMT1 PPP2R5D LIG4 SMARCB1 B3GALT6 PRF1 CPLX1 FAM20C PIK3R2 FKTN ARSA SEC24C CTNNB1 SLC29A3 RBPJ WDR81 COX7B TBX15 CCDC103 GBA PET100 CYP26C1 NEU1 NSD2 TSC2 DHCR7 NDUFB11 FANCM CCNO KATNIP NDUFB10 RSPO2 ERF MT-CO1 LRRC6 MT-ND2 NDUFA12 GNAQ PTCH2 SLC17A5 MT-TV RPIA NEK10 B3GALNT2 CCDC65 SMC1A PDHA1 FRAS1 SHH TMEM107 B3GLCT RSPH1 MT-ND5 VSX1 GAS2L2 GAS8 TMEM67 GPC3 CC2D2A PET117 PIK3CA GFM2 INPP5E GFM1 GALC XRCC2 GP1BB NGLY1 NDUFAF2 DNAL1 POR TXN2 ARHGAP31 MUSK AIFM1 DNAH9 TMEM237 MT-ND6 ECHS1 MKS1 CTSK NF1 AKT3 SHOC2 CDON DHCR24 NDUFA1 POMT2 DNAI2 HRAS VAC14 ERCC8 MT-ND3 WASHC5 PTCH1 DLL1 MTM1 AKT1 DNAAF1 NDUFAF3 GAS1 HLA-DRB1 CLCN7 MT-TL1 BRAF DNAH1 POMT1 AHI1 NDUFS2 FTO COL18A1 FAM111A POLG NARS2 TP53 RNASEH2C CEP83 NOTCH2 NDUFA6 SNX10 HPDL OFD1 NDUFA9 EBP RAD51 PRNP MT-TK CEP104 NF2 PRX ZIC2 IFIH1 MTFMT COX10 DNAAF3 DPH1 CCND2 TREX1 RPGRIP1L LMBR1 TDGF1 TRAF7 SURF1 HCCS USP7 NDUFAF1 POMK RECQL4 TMEM216 DNAAF5 LAMB1 CSPP1 HDAC6 TGIF1 IFT172 FOXRED1 COL4A1 FANCD2 COMT WNT3 LETM1 POLR3A FLNA MTRR VANGL1 TBXT MADD PSAP MT-TF C12orf65 TMEM126B NRAS GMPPB MPZ ERCC2 SLC39A8 PNPT1 TCTN1 TGFBR1 CCL2 TYROBP TCTN2 P4HB L1CAM MT-CO3 B3GAT3 HLA-DQB1 NDUFAF6 TREM2 OSTM1 TNFRSF11A TTR SPEF2 TRAF3 PTEN B4GAT1 TACO1 MAP2K1 FGF8 SUFU MBTPS2 ERCC3 TLR3 PPP1CB SMO GLI2 ERCC4 NUBPL RSPH9 DNAAF2 COX20 SIK3 IDUA NDUFV2 TK2 SLC2A1 NSUN2 TICAM1 MT-TW SLC12A2 NDUFS7 CFAP43 TTC25 HTRA2 COQ8A PDHX TCIRG1 CEP120 SLC25A24 ROGDI SLC19A3 ARMC4 KIF7 NDUFB8 SOX9 ERCC5 POMGNT1 RNASEH2A CLIC2 FANCC DAG1 KMT2D TRPV4 SDHA PIBF1 PPP2R1A SOX2 SLC12A6 TRNT1 NDUFAF5 SEC24D UBE2T TBCK MT-ND4 MAD2L2 PLG LRPPRC CCDC39 DNAI1 MECP2 PHYH TRIM71 PYCR1 COA8 NDUFA2 FANCB NME8 NDUFA11 UNC93B1 TET3 RPGR PTDSS1 COX4I1 MFN2 COX14 FTL KIAA0586 CCDC151 KDM6A PIGV TIMMDC1 GCDH COG6 NDUFS6 UFD1 NAXE DDC SLX4 AMER1 VPS33A CEBPE NDUFA10 RXYLT1 TNFSF11 MRPS34 HYLS1 OCLN ZMYND10 TSC1 PNPO SCO2 DNAAF6 RREB1 DNMT3B POMGNT2 ESCO2 CFAP298 PALB2 DARS2 MTHFR HIRA TRMT10C BAP1 ZIC3 CRPPA MT-TS2 STK36 GLI3 TGFBR2 DNAAF4 TYMP MAN2B1 ADAR KIF1A ERCC6 DENND5A FANCI GPC4 TMEM138 GCH1 CACNA1A PDGFB MED12 TBK1 DNAH11 CEP290 STAG2 TH ARL13B RAD51C MT-TN FANCL BCAT2 MPV17 EML1 ATP1A2 ABHD5 CEP41 MT-ATP6 FANCE CHST3 NDUFS3 FBN1 NOTCH2NLC NDUFS8 MT-TH NDUFS1 NDUFB3 MAF CD59 SUCLG1 PRKAR1A LIPT1 SMOC1 FOXJ1 JMJD1C MT-CYB TUBB3 FOXH1 PRDX1 MAP2K2 CPLANE1 SPAG1 DLL4 COX6B1 GFAP TERT CFAP300 FUZ DNAH5 IFT43 HSD17B10 KRAS CCDC40 HYDIN OGDH RNF125 BRIP1 TAF2 PORCN CILK1 MDH2 LRRC56 ALG13 SAMD9 BUB1B FIG4 SCN1A CFAP221 MT-TQ HERC1 PMP22 PIEZO2 B9D2 DRC1 CCDC88C CSF1R B4GALT1 CENPF COX15 FANCF PEX19 CDCA7 NDUFB9 MC1R TTC12 NPHP1 SLC13A3 ZNF423 SLC25A19 NDUFAF4 CPT2 CTBP1 ZBTB20 ARVCF BRCA2 MPDZ WDPCP ARL3 FGFRL1 DOCK6 SLC13A5 RARS2 COX8A PEX7 RANBP2 GUSB RRM2B FLVCR2 EGR2 CRB2 VANGL2 GPSM2 RFWD3 DNAJB13 NDUFAF8 MCIDAS FANCG RMND1 HNRNPU FANCA PRRT2 PIGU RSPH3 TRAPPC12 ARSB MT-CO2 HELLS HP_RHEUMATOID_FACTOR_POSITIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_FACTOR_POSITIVE FASLG STING1 RIPK1 PGM3 FAS PADI4 PRKCD RASGRP1 NFKBIL1 IFNGR1 SLC22A4 IL10 CYBC1 CASP10 CIITA PTPN22 CD244 HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY RNASEH2B STAT1 KDM6A CLIP2 NODAL UBR1 SUGCT WFS1 BUB1B PROP1 TPO CTNS HESX1 TBX1 SMARCE1 LHX4 SLC6A17 BCOR TTC37 FANCI SIX3 TRMT10A SAMHD1 BTNL2 DISP1 ACP5 DUOX2 MT-ND1 MLXIPL DMXL2 KANSL1 MAGEL2 AKT1 ALX4 SEC24C CTNNB1 SNRPN ROBO1 CDH23 TBC1D24 GTF2I SETBP1 HFE MSTO1 NDN MT-CO1 IYD TANGO2 PDE4D SMC1A SMARCB1 FDX2 ABCB4 TSC1 SHH CHD7 TBL2 MT-ND5 DEAF1 NPHS1 GABRA3 RAG2 GP1BB TSHR GAS1 HYMAI FUCA1 ZFP57 GNE MEN1 PPP1R15B NKX2-1 MT-ND6 RMRP CDON SKIV2L ADA POLG2 LIMK1 XRCC4 PTCH1 DLL1 GRM7 SALL1 AIRE HLA-DRB1 MT-TL1 GATA1 KCNJ18 NNT ENPP1 GLI2 MCM8 STEAP3 RNASEH2C ALMS1 MC2R YY1 SLC5A5 ZIC2 IFIH1 TREX1 NKX2-5 TDGF1 TRAF7 NIN KCNJ10 TGIF1 FOXI1 EIF2AK3 COMT FUT8 RAG1 ALG8 GNAS ANAPC1 MADD MT-TF C1QBP STAT3 TWNK MT-TL2 KAT6B GLIS3 IFNG BUB3 FLCN MT-CO3 PIEZO1 ABCB11 KCNAB2 FGF8 SUFU POLR3A SLC16A2 KATNIP ZBTB20 DCAF17 B3GLCT TG HSD17B3 CACNA1S FMR1 SRY TRHR DNAH1 EXOSC2 DDOST NF2 OCA2 FOXE1 PTEN NSD1 LEPR TXNRD2 LHX3 PAX8 JAK1 SLC26A4 BMP4 PRKAR1A CLPB ELN LIFR GABRD FOXA2 SLC12A3 SPOP MT-TW KISS1R FGFR1 TRIP13 APOE ABCC8 BRAF HNRNPK PLAGL1 PHF21A MT-ND4 IGF2 PLVAP TRAPPC9 PCSK1 PIK3C2A RERE FOXP3 DNM1L GLI3 IL7R TSHB TONSL NR1H4 APC HBB USP9X DUOXA2 UFD1 FLII POU1F1 SGPL1 BUB1 FARSA RAI1 PIK3CA THRA ITCH SRD5A3 GTF2IRD1 MARS1 IGSF1 RREB1 SOX3 RFC2 TBCK IL2RG RBM28 HIRA LIG4 BAP1 MT-TS2 SEMA3E ADAMTSL1 ADAR THRB PMM2 GPR161 GCH1 PDGFB CLCNKB LRP4 HPD FOXP1 STAG2 SIM1 KMT2D INSR PTRH2 POU3F4 SKI SETD2 IQSEC2 MT-TH JMJD1C SCN4A FOXH1 SMO SAA1 TERT TBL1X STAR LEP GPC1 TRH CACNA1C RRM2B STUB1 PLAA APC2 SVBP MT-TQ ARL6IP6 ABCC6 PRDM16 LRBA IL2RA CEP57 EXT2 TMEM67 MDM4 ADAT3 WDR4 WDR11 POLG DMPK HMGA2 RNASEH2A MT-TN ARVCF DACT1 GATA6 AIP KCNJ11 HNF1B DYRK1A AFF4 OPA1 BAZ1B ATP8B1 MRAP DNAJC19 TF IRS4 PLAG1 POMC CDKN1C MTTP PROKR2 TSC2 OTX2 MT-CO2 HNF4A ARNT2 SLC25A4 DCLRE1C HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX NDUFV2 NDUFA4 GLRX5 PDHX NDUFAF2 SURF1 PDHB NDUFA13 NDUFS3 NDUFS7 NDUFAF5 PET100 MTFMT NDUFAF6 DLAT NDUFS8 NDUFS1 SLC19A3 PDHA1 ECHS1 TACO1 PDP1 LIPT1 NDUFA12 FOXRED1 NDUFS4 NDUFA9 NDUFS2 SDHA NDUFV1 NDUFA10 NDUFA2 COX15 SLC39A8 HP_DISTAL_SENSORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT GJC2 MPZ SCYL1 SBF2 PMP22 TDP1 ABHD12 NAGA GDAP1 TWNK AIFM1 MFN2 BAG3 SETX RASA1 TRPV4 CYP7B1 KIF5A KARS1 MME PRPS1 FBLN5 GARS1 BSCL2 REEP1 POLG PDK3 PIK3R5 ATP13A2 COX6A1 NDRG1 C12orf65 LITAF SPG11 GJB1 SOX10 RAI1 IGHMBP2 VCP MCM3AP KIF1A FGD4 PEX10 DHH SBF1 XRCC1 GAN SAMD9L NEFL HK1 CCT5 DNM2 SPTLC2 MSTO1 DARS2 NEFH MATR3 JPH1 DCAF8 SLC25A46 SACS HARS1 KIF1B CHCHD10 MARS1 TK2 PRX IBA57 DNAJB2 LMNA TYMP IARS2 C19orf12 GNB4 SERPINI1 APTX NAGLU FIG4 CAV1 YARS1 ATP7A GBE1 MPV17 POLR3A LRSAM1 HINT1 HSPB1 MTMR2 ATL1 PNKP DYNC1H1 TFG MORC2 EGR2 CAPN1 PLEKHG5 SPTLC1 COA7 INF2 KLHL9 MTTP NTRK1 DDHD1 SH3TC2 HSPB8 AARS1 MED25 HP_HEMIVERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIVERTEBRAE ROR2 B3GLCT GLI3 STAG2 TBX6 WASHC5 CHD7 WNT5A SIX6 KDM6A SH2B1 SON SUFU SOX2 CCDC22 WNT7A MADD KMT2D DVL3 ORC1 HES7 JAG1 FGFR1 IKBKG PTCH1 PUF60 EBP TBC1D24 MESP2 ATRX TMCO1 MYH3 RIPPLY2 DVL1 TBX2 CDK10 FANCB MEG3 POR RAD21 RTL1 MBTPS2 FZD2 PTCH2 SEMA3E KYNU DLK1 DLL3 HP_LUMBAR_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_HYPERLORDOSIS MYBPC1 ACTA1 ITCH SATB2 TRAPPC2 GFPT1 FBN1 SLC26A2 PCGF2 RAB3GAP2 FKRP VCP DAG1 FGFR3 DPAGT1 MATN3 XYLT1 COL6A2 DDRGK1 SHOX TONSL TPM3 SOX5 ALG2 MED12 GMPPB COMP POMGNT1 CHST3 NSDHL EXTL3 SELENON ACAN SON BCOR RMRP ACP5 PIEZO2 POMK TPM2 VPS33A IHH MYH7 ALX3 POMT1 DYM COL10A1 LMX1B COL2A1 HACE1 BGN HSPG2 CLCF1 SYT1 ADAMTS10 PLEC NAA10 HERC1 MFN2 SGCG SMARCAL1 MYPN COL11A2 ALG14 POMT2 RYR1 FUCA1 GARS1 RERE NPR2 ARSB VPS13B HP_THORACIC_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSIS GTF2H5 DYM MIR140 TRAPPC2 PIK3C2A ANKRD11 MPLKIP CDH11 GTF2E2 PUF60 MAN2B1 MGAT2 GBA FGFR3 ERCC3 RNF113A NEPRO NARS1 TONSL GNPTAB POP1 XYLT2 PHF8 LHX3 EXTL3 SMARCAL1 TMEM231 AIFM1 SLC26A2 ALDH3A2 MED12L ERCC2 AMER1 COL2A1 GUSB VPS33A SRD5A3 NPR2 WDR81 TARS1 FLNB HP_THORACIC_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_SCOLIOSIS AK9 MUSK ITCH CHRNA1 PCGF2 PUF60 LRP4 PEX5 ERLIN1 CHRNE AEBP1 CHRND SCN4A LMNA TPM3 SOX5 ATRX ALMS1 IARS2 PYCR2 TPM2 TBX5 HINT1 CHRNB1 WDR81 DOK7 COL13A1 SPRTN SGCA MOGS C12orf65 NEK9 PIK3R2 ZMPSTE24 AGRN MYPN DES RAPSN TUBB3 PLOD1 RBBP8 GDF3 VPS13B HP_THORACOLUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_SCOLIOSIS ROR2 GLIS3 IL6ST CDH11 NIN TBC1D24 COL2A1 MGAT2 RSPRY1 NEPRO COL6A2 PAPSS2 CLCF1 GNPTAB POP1 LHX3 ATRX ALMS1 COL1A2 USP9X PDGFRB SLC26A2 LONP1 PIEZO2 ROBO3 MYO18B HP_INTERVERTEBRAL_SPACE_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERVERTEBRAL_SPACE_NARROWING MT-ATP8 COL2A1 CHST3 MT-TL1 RRM2B LTBP3 HP_CERVICAL_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_KYPHOSIS RIPPLY2 SLC26A2 DSE FLNB CHST14 HP_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_FUSION MEOX1 FGFR2 ROR2 VANGL1 CHRNG SALL4 FKRP COL2A1 TBX6 CHRNA1 MAFB IL1RN FLNB BMPER CTBP1 ABCC6 GDF3 SMAD4 MAP3K7 SOX5 RAD51 RBM8A SIX6 FGD1 FANCI DNAL4 FGFRL1 SUFU LETM1 DKK1 SOX2 GDF6 NOTCH3 FLNA CHN1 CHRND HGD AFF4 NOG GPC4 HES7 CPLX1 DCC PTCH1 ANKRD11 PUF60 ENPP1 MYH3 KANSL1 NSD2 ACVR1 NTN1 NADSYN1 PTCH2 MYO18B FUZ GDF5 DLL3 MESP2 GPC3 HP_FUSED_CERVICAL_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSED_CERVICAL_VERTEBRAE MEOX1 FGFR2 CHRNG DCC FLNA ENPP1 MYH3 PUF60 COL2A1 IL1RN ACVR1 GDF6 FLNB ABCC6 GDF3 MAP3K7 RAD51 RBM8A NTN1 FANCI DNAL4 DKK1 SALL4 MYO18B AFF4 NOG HP_VERTEBRAL_COMPRESSION_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_COMPRESSION_FRACTURES PLS3 UROS SERPINF1 P4HB USP8 WNT1 P3H1 FKBP10 GORAB GBA SPARC EFL1 DNAJC21 MESD SCARB2 TENT5A AIP SERPINH1 CCND1 NOTCH2 PYCR1 SBDS TNFRSF11A DKK1 WNT3A CREB3L1 MMP2 CRTAP XYLT2 SRP54 HP_GRANULOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOMATOSIS PRTN3 ASAH1 CYBB HLA-DPB1 NCF2 CTLA4 PTPN22 NCF1 CYBA HLA-DPA1 HP_IMMUNE_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNE_DYSREGULATION STAT1 LEPR PLCG2 LAT FOXP3 ACP5 HP_AUTOIMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNITY ZAP70 RNASEH2B STAT1 KDM6A CR2 SRP54 PADI4 IL6 SMPD1 STAT4 DDX41 GFI1 IL7R SPP1 CAV1 CD19 TBX1 CCR6 KIAA0319L HLA-DRB1 ICOS CTLA4 HNF1A IRF5 RAG2 FAS SAMHD1 PTPN22 UFD1 RASGRP1 ACP5 DCLRE1C ARHGEF1 PTPN2 PGM3 ITCH SEC24C TNFSF12 CD81 UBA1 PTEN RREB1 C1QC IL18BP IL2RB NHEJ1 PRKCD BACH2 IL2RG HIRA HAVCR2 C2 ANKRD55 CHD7 SLC7A7 ADAR ADA2 LCK CASP10 GP1BB AIRE RFX5 IL2RA POU2AF1 CD244 CLCNKB LMNB2 MASP2 KMT2D C1S RMRP PNP MMP2 ADA LACC1 CIITA FASLG NBN CD247 MS4A1 NLRP1 TNFSF15 DNASE1L3 KRAS CYBC1 CORIN TBX2 FCGR2B C4A NFKB1 RIPK1 RNASEH2C GALC IRAK1 RAG1 SERPING1 C3 JMJD1C SLC22A4 FLT1 IFIH1 TREX1 MST1 IL12A MTHFD1 LIG4 RFXAP TNFRSF13C MAGT1 SEC23B FCGR2A C1QB TPP2 ITPR3 MIF WIPF1 C1QA SPIB COMT WAS HLA-DQB1 MMEL1 STAT3 NRAS FADD COPA STIM1 CD3G PRTN3 LRBA RFXANK TTC7A PEPD GPR35 IL12RB1 COL4A6 TNFAIP3 PLCG2 CSF2RB TNFRSF13B BTK FOXP3 RNASEH2A ARVCF HLA-DPA1 POLG C1GALT1C1 CCN2 PIK3R1 COL4A5 NFKB2 STOX1 TNPO3 CSF2RA SLC12A3 TRAC IL10 FOXD3 HLA-DPB1 C1R STING1 ELANE NFKBIL1 IFNGR1 SEMA6B C8A DNASE1 PAX4 TCF4 TCIRG1 ITK HP_DYSGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGAMMAGLOBULINEMIA XIAP CD40LG NBN IKBKG SH2D1A HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST FAS FASLG CIITA RFXANK RFX5 RAB27A JAK3 RFXAP EPG5 WAS NSMCE3 CASP10 HP_CUTANEOUS_ANERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ANERGY CIITA RFXANK RFX5 JAK3 RFXAP EPG5 HP_CUBITUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUBITUS_VALGUS GJA1 NOG NF1 LMX1B BRAF NUP107 SHOX PSMD12 RSPRY1 PEX5 CLCF1 LARS2 MAP2K1 POP1 PTPN11 SOS1 EVC2 VPS13B CBL CUL4B CHST3 PEX2 KRAS BCOR EVC FGF9 DYNC2LI1 RAF1 SIL1 MAPK1 PTH1R GLI1 TUBB3 PEX1 BPTF SRY MAP2K2 WNT4 HP_GENU_VARUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VARUM COMP ORC6 RECQL4 MMP13 HPGD CANT1 FGFR3 SLCO2A1 DYM XYLT1 DDRGK1 TONSL TRIP11 VDR RMRP CYP3A4 COL2A1 RBM8A KAT6A SHOX NEB TPM2 PHEX IHH ACTA1 C12orf57 ORC1 LMOD3 COL10A1 COL9A1 ANAPC1 EFL1 CYP2R1 CFL2 COL9A2 KLHL41 ACAN COL9A3 RAB23 MATN3 DMP1 RPL13 ENPP1 CCN6 FN1 KIF22 UFSP2 CYP27B1 NKX3-2 TCTN3 HP_REDUCED_DELAYED_HYPERSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_DELAYED_HYPERSENSITIVITY FAS FASLG RAB27A NSMCE3 CASP10 HP_ABNORMALITY_OF_THE_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREARM CLIP2 EXT2 SALL4 COLEC10 TBX3 MMP13 GLI3 CHSY1 FANCE AGA SF3B4 FLNB SHH FGFR3 REV3L SLX4 RRAS2 BRCA1 NRAS RASA2 BCOR CD96 FANCI NALCN APC COL5A2 LMBR1 ARID1B GPC6 XYLT1 MLXIPL EXT1 B3GALT6 FANCB PIEZO2 CPLX1 KIF22 NOG COL11A1 HDAC8 FLNA TBX15 GTF2IRD1 RPS19 GTF2I NSD2 SETBP1 DONSON ASXL1 PITX1 COL9A2 FANCM COL1A1 RNU4ATAC MMP9 BMP1 COL9A3 TNNI2 POR RFC2 PALB2 TBX22 FANCC TGFB1 RAI1 ZIC3 MECOM SEMA3E GSC PRKAR1A SOS2 FGF10 ATR PDE4D TBL2 DHODH RAB3GAP2 SHOX A2ML1 FZD2 MAFB XRCC2 SOS1 RAF1 SMC1A RFWD3 SETD5 CHD7 LRP4 MAP3K7 BMPR1B RAD51C COMP MASP1 IHH SNRPN ESCO2 TRIO PTDSS1 LIMK1 COL10A1 GDF5 COL2A1 COL9A1 ANAPC1 P3H1 COL27A1 IFT81 CYP26B1 BHLHA9 CCDC8 CHST3 FGFR2 ERCC1 MAF MYH3 FGFR1 NOTCH2 COL5A1 MRAS DHCR7 FKBP10 CBL RAD51 SMC3 MAP2K2 WNT7A CHRNG ERGIC1 RECQL4 TAPT1 IFITM5 NIPBL PCNT SCARF2 FANCA TBX5 TWIST1 RBM8A KRAS EIF4A3 FANCD2 IFIH1 DYNC2H1 LETM1 EXTL3 TRIP11 VPS35L BRIP1 BRAF RPL26 JAG1 NDN SAMD9 PTPN11 RBM10 B2M SKI BGN B3GAT3 HOXA11 CANT1 CUL7 COLEC11 MAGEL2 KMT2A MAP2K1 EXOC6B ERCC4 TMEM67 BANF1 FANCF PLXND1 COL7A1 AEBP1 EP300 CTBP1 OBSL1 ALG12 BRCA2 HOXD13 KAT6B FGFRL1 CHN1 CREBBP ELN ZBTB16 AFF4 B4GALT7 RRAS BAZ1B LMX1B SLC39A13 RIT1 FANCL TPM2 UBE2T LZTR1 MACROH2A1 CCNQ FANCG MAD2L2 PIGT FGF9 TNNT3 RAD21 NPR2 FGF23 HP_RADIOULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIOULNAR_SYNOSTOSIS CLIP2 MECOM SALL4 TBL2 DHODH COLEC10 CHSY1 A2ML1 MAF SF3B4 CTBP1 SOS1 RAF1 FGFR3 TBX5 FGFR2 TWIST1 RRAS2 SMC1A NRAS RASA2 BCOR KAT6B SETD5 APC COLEC11 FGFRL1 LRP4 LETM1 XYLT1 ELN MLXIPL MASP1 B4GALT7 RRAS RPL26 B3GALT6 BAZ1B LIMK1 PIEZO2 CPLX1 HDAC8 PTPN11 RIT1 B3GAT3 GTF2IRD1 CHST3 GTF2I NSD2 SETBP1 LZTR1 NIPBL HOXA11 CANT1 POR ESCO2 RFC2 KMT2A TBX22 DONSON MRAS KRAS CBL RAD21 SMC3 SOS2 HP_BOWING_OF_THE_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_LEGS CLIP2 EXT2 COMP MMP13 HPGD FGFR3 COL11A1 ATP7A EVC GORAB XYLT1 DDRGK1 TONSL ATRX FLNB RMRP TENT5A RAB23 SKI LOXL3 CTC1 SLC26A2 CYP27B1 FIBP CTNS EXT1 MATN3 MMP9 CYP2R1 KIF22 OCRL NSD1 GTF2IRD1 SPART GTF2I DYM SETBP1 CBS COL9A2 VPS13B COL10A1 COL9A3 COL2A1 GNPTG RNU4ATAC POR BCOR DMP1 RPL13 RFC2 SGMS2 FN1 FGFR2 COL1A1 TGFB1 UFSP2 POLR1A GLI1 CLTCL1 DDR2 MAN2B1 ORC6 TBL2 SHOX SLCO2A1 LIFR RSPRY1 COL9A1 VDR GLB1 COL1A2 PRKACA HERC2 TPM2 PHEX IHH NF1 MCTP2 SFRP4 C12orf57 ORC1 LMOD3 PWAR1 NEK8 SMOC1 LIMK1 TRPV4 ANAPC1 EFL1 P3H1 NDUFAF6 CLCN7 NEPRO CHST3 FBN1 CFL2 TRPS1 MAGEL2 ENPP1 SOX9 NOTCH2 NPAP1 TUBB3 CRTAP DLK1 SNORD116-1 TNFSF11 MAP2K2 MEGF8 ALPL WNT7A FLNA RECQL4 PLOD2 CENPT TRPV6 CYP19A1 PCNT SCARF2 PAPSS2 KIF7 HSPG2 PCYT1A BPNT2 RBM8A IFT172 KRAS EIF2AK3 IARS2 NEB COG5 IFIH1 DYNC2H1 MKRN3 BHLHA9 SNORD115-1 CDC45 BRAF HBB GALNS B3GAT3 PEPD SLC34A3 ZEB2 GAN ACAN MEG3 EHHADH MAP2K1 RTL1 DYNC2LI1 LONP1 ZBTB20 IFT57 MTX2 CA2 NKX3-2 EVC2 TCTN3 RUNX2 SATB2 PRKACB CANT1 TRIP11 HS6ST1 KDELR2 CYP3A4 FGF23 PWRN1 KAT6A ACP5 SERPINH1 GUSB PUS3 ACTA1 NDN DYNC2I1 GDF5 BAZ1B ELN B3GALT6 CLCN5 TMEM38B IDUA MTAP KLHL41 SLC10A7 CCN6 UGP2 CSGALNACT1 ARSB RAB33B SNRPN HP_FEMORAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_BOWING WNT7A PLOD2 MMP13 TRPV6 MAN2B1 COL11A1 LIFR RSPRY1 GORAB SCARF2 PCYT1A POR FGFR3 TENT5A SOX9 COL1A2 DYNC2H1 RMRP BHLHA9 CYP27B1 NEK8 DYNC2I1 GDF5 VDR CYP2R1 DYM COL10A1 COL1A1 CLCN5 P3H1 TMEM38B FLNA NEPRO FGFR2 RNU4ATAC DMP1 SGMS2 ENPP1 SLC34A3 POLR1A PHEX HP_ABNORMALITY_OF_THE_CALF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF TP53 CLIP2 EXT2 COMP MMP13 HPGD FGFR3 COL11A1 ATP7A EVC GORAB XYLT1 DDRGK1 TONSL ATRX IFT122 FLNB RMRP TENT5A RAB23 LMBR1 SKI LOXL3 CTC1 SLC26A2 HCN1 CYP27B1 AMER1 FIBP NANS CTNS EXT1 GABRG2 MATN3 MMP9 CYP2R1 KIF22 OCRL NSD1 GLI3 TBX15 HYLS1 PTH1R GTF2IRD1 SPART GTF2I SF3B4 DYM SETBP1 CBS DONSON COL9A2 VPS13B GPX4 COL10A1 COL9A3 COL2A1 GNPTG RNU4ATAC POR BCOR DMP1 RPL13 RFC2 SGMS2 FN1 FGFR2 COL1A1 TGFB1 UFSP2 SEMA3E POLR1A GLI1 CLTCL1 SCN9A DDR2 MAN2B1 INPPL1 ATR ORC6 TBL2 SHOX SLCO2A1 LIFR PCDH19 RSPRY1 COL9A1 STX1B VDR GLB1 COL1A2 PRKACA GDF5 HERC2 BMPR1B TPM2 TBXAS1 PHEX GPC6 IHH NF1 MCTP2 SFRP4 C12orf57 ORC1 LMOD3 PWAR1 NEK8 SMOC1 LIMK1 TRPV4 ANAPC1 EFL1 P3H1 NDUFAF6 CLCN7 BHLHA9 NEPRO CHST3 FBN1 CFL2 INTU SCN2A TRPS1 MET SHH GABRD NEK1 MAGEL2 ENPP1 SOX9 NOTCH2 NPAP1 TUBB3 CRTAP DLK1 SNORD116-1 TNFSF11 MAP2K2 SCN1B MEGF8 ALPL WNT7A FLNA RECQL4 PLOD2 TAPT1 CENPT TRPV6 CYP19A1 PCNT SCARF2 PAPSS2 KIF7 HSPG2 PCYT1A BPNT2 RBM8A IFT172 KRAS EIF2AK3 IARS2 EIF4A3 NEB COG5 IFIH1 DYNC2H1 MKRN3 SNORD115-1 CDC45 BRAF HBB DDX6 ACTB GALNS SLC29A3 BGN B3GAT3 PEPD SLC34A3 ZEB2 GAN ACAN MEG3 EHHADH SCN1A MAP2K1 RTL1 DYNC2LI1 LONP1 ZBTB20 IFT57 MTX2 CA2 NKX3-2 EVC2 TCTN3 RUNX2 SATB2 ZSWIM6 PRKACB CANT1 TRIP11 HS6ST1 KDELR2 CHD7 CYP3A4 ALG12 FGF23 PWRN1 ADGRV1 KAT6A SLC35A2 ACP5 SERPINH1 RB1 GUSB ZBTB16 PUS3 ACTA1 AFF4 NDN DYNC2I1 BAZ1B ELN B3GALT6 STXBP1 CLCN5 TMEM38B IDUA GABRA1 MTAP KLHL41 SLC35D1 SLC10A7 CHEK2 AIFM1 CCN6 UGP2 CSGALNACT1 ARSB RAB33B SNRPN HP_TIBIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_BOWING VDR CYP2R1 DYM SATB2 FLNA MMP13 SHOX CLCN5 P3H1 LIFR GORAB PCNT PCYT1A SETBP1 FLNB RMRP COL1A2 COL10A1 MEG3 CHST3 COL1A1 FGFR3 DMP1 SOX9 SMOC1 ENPP1 RTL1 FIBP CYP27B1 SLC34A3 CLTCL1 DLK1 PHEX HP_MICROMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROMELIA ALPL WDR35 WNT7A ERGIC1 PUF60 HHAT COL11A1 NIPBL DYNC2I2 DDRGK1 HSPG2 DYNC2H1 RMRP KIAA0586 LBR WNT5A IFT43 NBAS GLUL KIF7 CD96 SHOX APC IFT140 SLC26A2 COL11A2 GPC6 FLNB TRIP11 HYLS1 PCNT CILK1 EXT1 ACTB B3GALT6 FAM20C COL2A1 HDAC8 ADAMTS2 DYNC2LI1 PTH1R DYM IFT172 DHCR7 DONSON FGFR3 CUL7 RNU4ATAC DYNC2I1 KMT2A FN1 EVC PAM16 B3GLCT CEP120 SMO IFT80 GLI1 EXT2 TTC21B PRKAR1A DDR2 TCTN3 PHGDH INPPL1 IDH1 PDE4D ACAN MATN3 OBSL1 SMC1A SETD5 GDF5 LRP4 CDKN1C SERPINH1 BMPR1B FGFR2 TRPV4 IHH DVL3 POLE EXOC6B LIFR IFT81 CCDC8 WDR19 ANTXR2 DVL1 EVC2 SLC35D1 FZD2 KIF22 DHCR24 RAD21 CRTAP IDH2 PSAT1 SMC3 CSGALNACT1 HP_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_RADIUS WNT7A FGF10 ATR PDE4D RBM10 SALL4 DHODH TBX3 FGFR2 NIPBL MAFB RECQL4 SHOX SF3B4 SLX4 ALG12 RFWD3 FANCI APC LRP4 EIF4A3 CHN1 TRIP11 RAD51C TBX5 IHH AFF4 RPL26 GDF5 IFT81 RPS19 CCNQ FANCB ESCO2 FGFR3 DONSON NPR2 PRKAR1A HP_RADIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_BOWING SHOX WNT7A B3GALT6 COL11A1 MMP13 GLI3 B2M P3H1 PCNT FLNA EXT2 NPR2 FLNB FGF23 TMEM67 EXT1 HOXA11 GDF5 HP_ELBOW_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_FLEXION_CONTRACTURE ATR PLOD2 ANO5 TPM3 TBX15 COL6A3 MYL2 PIGY LIFR ITGA7 NIPBL DDR2 FKBP10 SCARF2 PITX1 TMEM43 COL12A1 CRLF1 FBN2 UNC80 LGI4 SNRPB MYH3 ERCC6 COL6A2 ERLIN2 TRPV4 EXTL3 LMNA SELENON TPM2 RNU4ATAC ACTA1 SLC26A2 CAPN3 ALDH18A1 WNT7A MAP3K7 TOR1A CPT2 COL6A1 NALCN FDFT1 MAP3K20 EMD FLNA SLC39A8 PTDSS1 SLC29A3 P4HTM PSMB8 PSTPIP1 LAMA2 SPRTN SYNE2 B3GAT3 CHST3 SLC6A9 ESCO2 LARGE1 PLOD3 HACD1 FHL1 TFAP2A SYNE1 GJB2 SRD5A3 ECEL1 KY PLOD1 PIK3C2A PYCR1 SVIL SIK3 HP_FIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_APLASIA WNT7A FLNB TBX15 FLNA LMBR1 GDF5 AMER1 BMPR1B RBM8A HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY LMBR1 INPPL1 WNT7A ATR TAPT1 CANT1 ATP7A DDRGK1 SHOX IFT122 FLNB COL11A1 RBM8A COL2A1 GDF5 FGFR3 SOX9 EIF4A3 DYNC2H1 GPX4 BMPR1B FLNA BHLHA9 CYP27B1 AMER1 ZBTB16 GPC6 IHH NANS AFF4 SMOC1 VDR CYP2R1 GLI3 FGFR2 CLCN5 TBX15 BGN PTH1R SF3B4 INTU MET SLC35D1 SLC34A3 MTX2 PHEX SHH DDR2 HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY TP53 LMBR1 WNT7A FLNA MMP13 ATP7A GORAB PCNT PCYT1A FLNB RMRP RBM8A CHST3 SHOX FGFR3 EIF4A3 DYNC2H1 SLC26A2 HCN1 BHLHA9 CYP27B1 EXT1 GABRG2 DDX6 ACTB SLC29A3 CYP2R1 DYM COL11A1 GLI3 HYLS1 SETBP1 DONSON COL10A1 MEG3 COL1A1 DMP1 SCN1A RTL1 TGFB1 FIBP SEMA3E SLC34A3 SCN1B CLTCL1 EXT2 SCN9A TCTN3 SATB2 ZSWIM6 LIFR PCDH19 STX1B NEK1 CHD7 COL1A2 ALG12 ADGRV1 SLC35A2 GDF5 SOX9 RB1 BMPR1B TBXAS1 NF1 ZBTB16 GPC6 IHH SMOC1 VDR STXBP1 CLCN5 P3H1 GABRA1 HPGD INTU SCN2A SHH GABRD CHEK2 ENPP1 AIFM1 DLK1 PHEX HP_LIMITED_ELBOW_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_MOVEMENT ITCH FLNA COLEC10 PLOD2 MMP13 IFITM5 FGFR3 TBX15 NIPBL PCNT RSPRY1 FKBP10 SCARF2 PITX1 RECQL4 TMEM43 TONSL CRLF1 FBN2 SF3B4 RMRP SALL4 COMP CHST3 TRPV4 EXTL3 SELENON TPM2 RNU4ATAC ACTA1 SMC3 SLC26A2 ALDH18A1 WNT7A MAPK1 TBX5 COL6A3 FDFT1 SMC1A MAP3K20 NALCN MATN3 SLC39A8 SLC29A3 COL12A1 P4HTM PSMB8 PSTPIP1 LAMA2 BGN B3GAT3 MYH3 CLCF1 SLC6A9 EMD COL2A1 COL6A2 COLEC11 ESCO2 LARGE1 HACD1 LMNA ERLIN2 FHL1 TFAP2A STXBP1 GJB2 SRD5A3 KY EZH2 DDR2 HOXA11 SIK3 B3GLCT MECOM ATR ANO5 TPM3 MYL2 PIGY LIFR ITGA7 FZD2 UNC80 HDAC8 LGI4 SNRPB ERCC6 LMX1B CAPN3 FLNB MAP3K7 SHOX TOR1A CPT2 GPC6 COL6A1 SFRP4 OPA3 HRAS PPP2R3C PTDSS1 FGFR2 STAG1 SPRTN SYNE2 PTPN11 PLOD3 DYSF MYOT MASP1 HUWE1 KCNK9 PTH1R SYNE1 PCYT1A NPR2 ECEL1 MED12 CSGALNACT1 PLOD1 PIK3C2A ATP7A PYCR1 SVIL HP_ABNORMALITY_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ULNA CLIP2 WNT7A SALL4 RECQL4 COLEC10 TBX3 MMP13 CHSY1 FGFR2 PCNT SCARF2 AGA MAF SF3B4 FLNB FGFR3 REV3L TBX5 TWIST1 RBM8A RRAS2 BRCA1 NRAS RASA2 BCOR CHST3 KRAS SHOX APC FANCD2 DYNC2H1 LETM1 LMBR1 BHLHA9 XYLT1 SLX4 MLXIPL VPS35L BRIP1 BRAF RPL26 EXT1 JAG1 B3GALT6 NDN FANCB PIEZO2 CPLX1 COL11A1 HDAC8 PTPN11 B2M BGN B3GAT3 GTF2IRD1 GTF2I NSD2 SETBP1 PITX1 FANCM MMP9 NIPBL HOXA11 CANT1 CUL7 DHODH COLEC11 POR MAGEL2 ESCO2 RFC2 KMT2A PALB2 MAP2K1 TBX22 DONSON EXOC6B TGFB1 ERCC4 MECOM SEMA3E EXT2 IHH PRKAR1A FANCF SOS2 FGF10 PDE4D TBL2 RAB3GAP2 PLXND1 A2ML1 FANCI CTBP1 XRCC2 SOS1 RAF1 OBSL1 SMC1A BRCA2 KAT6B COL2A1 SETD5 CHD7 FGFRL1 LRP4 BMPR1B FANCC RAD51C ELN COMP ZBTB16 MASP1 SNRPN B4GALT7 RRAS GDF5 BAZ1B LIMK1 COL10A1 ANAPC1 RIT1 FANCL FLNA CCDC8 FANCE UBE2T LZTR1 MACROH2A1 RFWD3 FANCG FANCA MAD2L2 PIGT MRAS CBL RAD21 RAD51 SMC3 MAP2K2 HP_PATELLAR_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_DISLOCATION CLIP2 TBL2 PRKACB LMX1B TBX1 ERMARD FBN2 ARFGEF2 EP300 GP1BB BPNT2 ARVCF RBM8A FZD2 KAT6B FLNA COL5A2 COMT UFD1 CREBBP GDF5 XYLT1 FLNB NOTCH2 BAZ1B LIMK1 ELN OCRL SEC24C RYR1 EBP PKDCC ARF1 CHST11 GTF2IRD1 GTF2I COL1A1 RNU4ATAC RREB1 CANT1 RFC2 TMTC3 COL5A1 EXOC6B HIRA MAP1B JMJD1C STXBP1 TBX4 NEDD4L PLOD1 HP_GLOMUS_JUGULAR_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMUS_JUGULAR_TUMOR SDHC NF1 SDHB SDHD SDHAF2 HP_BREAST_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_CARCINOMA RAD51D RAD51C POLE STK11 TP53 APC MLH1 PALB2 SEC23B PIK3CA NQO2 AKT1 PPM1D BRIP1 RAD51 CDKN2A POLD1 NTHL1 HMMR SLC6A17 MSH2 ATR MEFV NF1 COL14A1 CDH1 CASP8 GNAS BARD1 BRCA2 MSH6 ATM PTEN USF3 BRCA1 RB1CC1 KLLN PALLD NBN SDHC PHB KRAS RNF43 CHEK2 XRCC3 SDHD TWIST1 RAD54L IDH2 IDH1 SDHB PRKN CTNNB1 FGFR2 AAGAB MDM2 SMAD4 ESR1 OPCML MRE11 SLC22A18 RAD50 WRN HP_COLON_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLON_CANCER MLH3 BMPR1A APC TP53 AXIN2 DMPK MLH1 PIK3CA BUB1B NTHL1 BRCA1 KRAS PRKAR1A PMS1 FLCN CDKN2A TGFBR2 MSH6 PMS2 PALB2 FOXE1 MSH2 MINPP1 COL14A1 CHEK2 BUB1 HABP2 GREM1 BUB3 FAN1 TRIP13 SMAD4 RPS19 SMAD7 SH3KBP1 AAGAB PALLD BRCA2 MDM2 MSH3 CEP57 MUTYH EPCAM HP_GANGLIONEUROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGLIONEUROMA RET ASCL1 KIF1B BDNF PHOX2B EDN3 GDNF MYO1H HP_PROLONGED_BLEEDING_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_TIME ITGB3 F2 CD36 GP1BA SLC35A1 VWF ITGA2B GP9 RUNX1 WIPF1 PLEC ITGB4 COL5A2 TET2 WAS HPS5 MPL GATA1 AGGF1 BMS1 CALR F5 TP53 GATA2 TEK GP1BB AP3B1 SOS1 COL1A1 GP6 SH2B3 RASGRP2 COL5A1 MYH9 RIN2 NF1 DLL4 HPS6 NBEAL2 GFI1B JAK2 MAP2K2 HPS1 ADAMTS2 HP_FLARED_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_METAPHYSIS PTDSS1 FGFR3 GJA1 COL10A1 KIF22 B3GALT6 FLNA TAPT1 MMP13 SLC39A13 PTH1R LIFR COL2A1 FIG4 B3GAT3 RUNX2 PCNT DDRGK1 CHST3 PEX7 TRPV4 SH3PXD2B TCIRG1 CYP3A4 OSTM1 FAM111A COMP ERCC1 LBR COL11A2 RMRP COG4 NANS NPR2 B4GALT7 EZH2 XYLT1 VAC14 DDR2 HP_METAPHYSEAL_WIDENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_WIDENING LRP5 FLNA TAPT1 SBDS MMP13 FGFR3 COL11A1 COL2A1 PCNT XYLT1 DDRGK1 PITX1 PCYT1A GNPTAB COMP DYNC2H1 SLC26A2 RMRP ACP5 NANS CTNS ARCN1 B3GALT6 MMP9 GALNS DYM KIF22 SKI FIG4 B3GAT3 HSPG2 PLCB3 PTH1R PEX7 SRP54 OSTM1 DNAJC21 WDR19 CSF1R ANKH EZH2 DDR2 INPPL1 GJA1 CANT1 LIFR MATN3 TRIP11 ALG9 GLB1 TCIRG1 EFL1 CYP3A4 ACAN NSMCE2 PHEX COG4 MAP3K7 TRPV4 MMP2 ABCC9 SFRP4 B4GALT7 VAC14 PTDSS1 COL10A1 SLC39A13 SLC35D1 RUNX2 CHST3 ACVR1 SH3PXD2B FAM111A ERCC1 COL11A2 LBR AIFM1 CCN6 ATP7A NPR2 BMPR1B ARSB HP_ABNORMALITY_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_WRIST SALL4 RAC3 NOG ATP7A EVC XYLT1 TONSL HOXA13 SHH TNNI2 MAP3K7 COMP PIGV NALCN APC MAFB FGFR3 RMRP LMBR1 CYP27B1 NANS EXT1 CYP2R1 FLNB KIF22 PIEZO2 FLNA MEG3 TBX15 FBLN1 HSPG2 DLK1 DYM ASXL1 PITX1 MYH7 PTEN POR ESCO2 DMP1 FN1 PRG4 UFSP2 GLI1 BPTF NIN DDR2 ASAH1 HOXD13 B3GALT6 ANO5 SHOX GPC3 GPC4 TNNT3 GLB1 MYH3 GNE GDF5 LRP4 BMPR1B IHH MMP2 CHSY1 COL2A1 ADAMTSL2 SMOC1 ENPP1 NOTCH2 TBX3 PAX3 RSPRY1 RECQL4 GNPTAB CHST3 NXN TUBB3 EXTL3 COL11A2 WNT7A TBX5 GALNS RTL1 EIF2AK3 EBP BGN PSMD12 PTH1R ERLIN2 DYNC2LI1 ZMPSTE24 EXOC6B LONP1 SLC34A3 COLQ AIFM1 EXT2 ALDH18A1 AKT1 EVC2 FGFR2 SETD2 XRCC2 MMP14 CANT1 COL7A1 TRIP11 MBTPS1 AEBP1 ABCC6 MATN3 ROR2 LAMB2 GJA1 CAPN3 BHLHA9 OPA3 VDR CLCN5 DHX16 SLC35D1 OCRL TPM2 MACROH2A1 SLC10A7 TRPV4 RBM8A LMNA HP_ENLARGEMENT_OF_THE_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_WRISTS CYP27B1 CYP2R1 SLC34A3 VDR DMP1 AIFM1 ENPP1 CLCN5 HP_METAPHYSEAL_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CUPPING ALPL COL11A2 COL10A1 COL2A1 LBR MMP13 GPX4 AIFM1 PTH1R RMRP PEX5 HDAC6 PAM16 NEPRO INPPL1 PCYT1A TRIP11 CYP3A4 HP_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_IRREGULARITY LPIN2 SBDS PEX5 DYM IARS2 RSPRY1 DDRGK1 TONSL PCYT1A RMRP MATN3 EFL1 COL2A1 COMP GPX4 TRPV4 ACP5 CYP27B1 NANS FGFR3 CSPP1 SRP54 MMP9 VDR CYP2R1 COL10A1 KIF22 CLCN5 SLC35D1 BGN CFAP410 DNAJC21 KIAA0586 CASR RPL13 FN1 EXOC6B PTH1R SLC17A5 SLC34A3 PHEX NKX3-2 ARSB RAB33B SIK3 HP_SHORT_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LONG_BONE SALL4 TBX3 PUF60 TCF4 FGFR3 COL11A1 COL2A1 EVC XYLT1 HOXA13 IFT122 PRMT7 SF3B4 FLNB SLX4 BRCA1 COMP FZD2 FANCI APC SLC26A2 LMBR1 AMER1 TRPS1 EXT1 FANCB NOG FLNA GLI3 HYLS1 PTH1R PLCB3 RPS19 DONSON FANCM RNU4ATAC PDE4D RPL13 PALB2 PTHLH ZIC3 SEMA3E GSC EZH2 PRKAR1A DDR2 ROR2 B3GLCT INPPL1 FGF10 ATR DHODH SHOX LIFR MAFB ALG9 RMRP XRCC2 SMAD4 RFWD3 RIPK4 GDF5 CHD7 LRP4 MAP3K7 GPX4 COG1 HOXD13 RAD51C COG4 GPC6 IHH HINT1 FAT4 SMOC1 COL10A1 CHSY1 IFT81 CCDC8 FANCE INTU MET SHH ADAMTSL2 DYNC2I2 NEK1 NADSYN1 SOX9 IFT52 SIL1 RAD51 FBN1 DLK1 BMPR1B VPS13B WNT7A TAPT1 TBX15 FGFR2 NIPBL TTC21B RSPRY1 SCARF2 RECQL4 GNPTAB IFT172 CHST3 EIF4A3 HDAC4 FANCD2 DYNC2H1 MYSM1 GNAS POLR3A TRIP11 BHLHA9 TBX5 VPS35L BRIP1 PORCN RPL26 JAG1 SMARCA2 DYM RBM10 B2M BGN PIGS MEG3 CUL7 ESCO2 RTL1 EXOC6B WDR35 LONP1 PAM16 ERCC4 EXT2 RBPJ SRY FANCF EVC2 HSPG2 AMMECR1 CANT1 GNPAT MATN3 SNRPB FGFR1 OBSL1 ALG12 BRCA2 SLC35A2 KCNJ2 FANCC PEX7 CHN1 ZBTB16 AFF4 GHR DYNC2I1 B3GALT6 FANCL DDRGK1 SALL1 SH3PXD2B UBE2T DCHS1 TCTN3 CCNQ FANCG SLC35D1 SLC10A7 FANCA COL11A2 MAD2L2 PIGT AGPS PHYH NPR2 TBX4 RAB33B ATP7A POC1A HP_MESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOMELIA DVL3 FLNA GDF5 RAC1 IFT80 GLI3 PTH1R TBX15 WNT5A SHOX TONSL TRIP11 NEK1 RMRP NGLY1 NXN ROR2 EIF4A3 ESCO2 LBR WDR35 ACAN DVL1 DONSON DHCR7 GPC6 KIF15 NPR2 CREB3L1 FGFR3 SIK3 HP_ABNORMALITY_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANKLES CLIP2 SPG11 ANO10 NOG HTT VEGFC SPART FKBP10 ADGRG1 COL6A1 MFN2 KIF5A COMP CHMP1A NEB NIPA1 ATL1 SLC39A14 ABCD1 FLT4 ACTA1 HCN1 RTN2 CYP27B1 PSAP REEP1 SOD1 STUB1 MAP3K20 SELENOI FLNA DAG1 CAPN1 RPL10 PNPT1 CYP2R1 SCN9A GLI3 GABRG2 COL6A3 GTF2IRD1 GBA2 APC2 PSMD12 SLC52A3 GTF2I SAMD9L COL9A2 UBE3A COL10A1 MYH7 COL9A3 COL6A2 ESCO2 CYP7B1 HACD1 RFC2 ERLIN2 SPAST ZMPSTE24 SLC34A3 BPTF NONO DYRK1A MAN2B1 SPTBN4 TBL2 ANO5 RAB3GAP2 TPM3 UCHL1 MYL2 LIFR ITGA7 DDR2 STX1B C19orf12 COL12A1 GFM2 ZFYVE27 WNK1 LGI4 ADGRV1 MAFB PSAT1 NSD1 FA2H CAPN3 PYCR2 FIG4 MAP3K7 CARS1 SYNE1 POU3F4 MMP2 BAZ1B VDR LIMK1 ELN SCN1A COL9A1 SETD2 CLCN5 NT5C2 GJC2 SELENON TIMM8A RETREG1 TOR1AIP1 RTTN GABRD KLHL9 KIF1A HUWE1 PIGT NTRK1 TPM2 OCA2 GALC SCN2A GDF5 ATP6AP2 DPM1 SCN1B RAB18 SVIL LMNA HP_ENLARGEMENT_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_ANKLES CYP27B1 CYP2R1 SLC34A3 VDR CLCN5 MYH7 HP_ULNAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_BOWING POR SHOX COL11A1 MMP13 PCNT FLNA SCARF2 RECQL4 VPS35L FGFR2 HOXA11 CHST3 HP_DIAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_SCLEROSIS STX16 MTAP CA2 TGFB1 ANO5 SOST GNAS TNFSF11 HP_ENLARGED_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_JOINTS COL2A1 MATN3 CHST3 HOXD13 COL11A2 CCN6 LIFR TRPV4 SRCAP KAT6A HP_FIBULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_HYPOPLASIA INPPL1 ATR GDF5 PTH1R FLNA SHOX SF3B4 IFT122 COL11A1 INTU MET SLC35D1 SOX9 EIF4A3 DYNC2H1 SMOC1 BMPR1B BHLHA9 AMER1 ZBTB16 GPC6 AFF4 HP_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROPATHY NOD2 TNFAIP3 PADI4 MMP14 STAT4 PTPN22 COL2A1 CD244 ANKH CHST3 COL11A1 F8 MMP2 HGD HFE MEFV STAT3 IL2RA PTPN2 IL6ST ELP1 NLRP1 HAMP IL10 TRPV4 HPGD IL36RN SAMHD1 NTRK1 IL2RB DMP1 ALPL ENPP1 PRG4 CCN6 BMP2 NFKBIL1 HJV TNFRSF1A SLC22A4 CD247 ATL3 CIITA NLRP3 ANKRD55 HP_HUMERORADIAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HUMERORADIAL_SYNOSTOSIS POR FGFR2 PTDSS1 WNT7A FGFR1 NOG FGF9 TBX15 CYP26B1 DONSON GDF5 HP_ABNORMAL_SHOULDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHOULDER_MORPHOLOGY CLIP2 ERGIC1 HHAT BCOR LMNA ATP7A SCARF2 AEBP1 HSPG2 MEOX1 ARFGEF2 PPP1R15B GDF3 TBX5 CUL4B CHST3 TRMT10A COL5A2 KMT2E MYT1L GDF6 PIEZO2 TNNT1 MLXIPL TRMT1 ACTL6B FBXW11 DYM SVBP ENPP1 ARF1 MED13 B3GAT3 GTF2IRD1 GTF2I COL1A1 NAA10 MEG3 ACTL6A RNU4ATAC TANC2 RFC2 TMTC3 RTL1 PTCH1 SEMA3E GSC NEDD4L EFNB1 RUNX2 TBL2 OTUD6B DOCK3 DDX6 ERMARD RLIM TRPV4 COL12A1 LGI4 BPTF MYH3 ABCC6 PAX1 NGLY1 FLNA CHD7 SUFU EYA1 ELN PSMD12 PRNP ORC1 BCORL1 BAZ1B LIMK1 LMX1B SPRTN NTNG1 TCF20 COL1A2 COL5A1 IRX5 MAP1B WDFY3 PTCH2 ZMIZ1 DLK1 TRAPPC4 RBM8A HP_SHOULDER_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_FLEXION_CONTRACTURE RNU4ATAC HSPG2 TNNT1 COL12A1 MYH3 HP_ABNORMAL_PATELLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATELLA_MORPHOLOGY CLIP2 WNT7A CHRNG RECQL4 SOX4 TBX1 COL2A1 FBN2 PRMT7 ARFGEF2 DPF2 BPNT2 ARID2 RBM8A TBX4 FZD2 SHOX COL5A2 USP9X COMT LMBR1 UFD1 ARID1B GDF5 BHLHA9 XYLT1 TBC1D7 CDC45 KIF22 OCRL SOX11 SEC24C EBP PKDCC ARF1 CHST11 GTF2IRD1 GTF2I CREBBP COL9A2 COL1A1 SMARCD1 RNU4ATAC RREB1 COL9A3 CANT1 CDT1 RAB23 ESCO2 RFC2 TMTC3 DONSON EXOC6B HIRA EP300 ORC6 STXBP1 NEDD4L ORC4 ZSWIM6 MIR140 TBL2 PRKACB LMX1B ERMARD COL12A1 GP1BB NLRP3 ARVCF PITX1 SMARCE1 KAT6B FLNA CDC6 SMARCA4 ARID1A FLNB ORC1 NOTCH2 BAZ1B LIMK1 ELN RYR1 COL9A1 ANAPC1 SMARCC2 GMNN COL5A1 SLC26A2 MAP1B JMJD1C FKBP10 SMARCB1 YY1 PLOD1 HP_ULNAR_DEVIATION_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_WRIST GALNS NALCN MYH3 PAX3 RAC3 RTL1 TNNT3 COMP TPM2 ASXL1 GLB1 DLK1 FLNB TNNI2 MEG3 HP_ENLARGED_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_METAPHYSES RNU4ATAC EXTL3 CHST3 RPL13 COL2A1 B3GAT3 HP_ABNORMALITY_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERUS FGFR2 WNT7A FLNA NOG SALL4 SLC26A2 TBX3 TBX15 GNPAT ATP7A FZD2 RECQL4 IFT122 GNPTAB FLNB SNRPB TBX5 RBM8A ALG12 POR SHOX STX16 RSPO2 MYSM1 POLR3A GPC6 LMBR1 IHH TRPV4 EXT1 PTDSS1 DYM GDF5 CYP26B1 DONSON PITX1 MACROH2A1 RNU4ATAC FGFR1 GNAS FGF9 AGPS LONP1 TGFB1 ZIC3 EXT2 GSC EZH2 FANCB HP_PATELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_HYPOPLASIA RECQL4 ZSWIM6 STXBP1 PRMT7 LMX1B TBX4 ANAPC1 PITX1 HP_LIMITED_KNEE_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_KNEE_EXTENSION GABRD SCN1A STXBP1 GABRG2 HCN1 PCDH19 STX1B SCN1B GABRA1 GPC6 CSGALNACT1 SCN2A SCN9A ATP7A EZH2 ADGRV1 HP_MADELUNG_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MADELUNG_DEFORMITY SHOX EXT2 NIN GJA1 GDF5 EXT1 HP_ELBOW_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_ANKYLOSIS WNT7A PTDSS1 FGFR1 FGFR2 MUSK NOG GDF5 HP_FLATTENED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLATTENED_EPIPHYSIS SLC26A2 MIR140 KIF22 COL2A1 MMP13 CANT1 SLC39A13 EIF2AK3 CCN6 TONSL TRPS1 IFT122 ACAN COL9A1 CHST3 GNPTG SLC10A7 AIFM1 TBX4 UFSP2 RAB33B COL9A2 HP_HYPERCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCALCEMIA ALPL SDHD CLIP2 TBL2 CDKN1B CDKN1A MAX SDHB TMEM127 DNMT3A SLC12A1 MDH2 MEN1 SLC34A1 CDC73 RET PIGT NSD1 CDKN2C KL GNA11 BTNL2 CCND1 EPAS1 VHL ELN MLXIPL SDHC KIF1B PTH1R TRIO DLST BAZ1B CASR LIMK1 PIK3C2A SDHA SETD2 CDKN2B CDKN1C SLC25A11 HLA-DRB1 SDHAF2 GTF2IRD1 APC2 FH GTF2I PDGFRB NF1 SLC5A1 CYP24A1 GCM2 RFC2 GDNF AP2S1 NOTCH3 HP_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLYCEMIA ACAT1 GCK ARMC5 INSR KCNE3 INS GABRA3 ZMPSTE24 GYS2 ITPR3 KCNJ11 HYMAI RFX6 STAT3 GLI3 HNF1A ZFP57 EIF2AK3 ABCC8 RIMS2 SLC2A2 KLF11 PAX4 PPARG AFF4 APPL1 PDX1 PTPN22 SHPK LMNA CACNA1S PTF1A KCNJ18 PIK3R1 HFE GATA6 CEL PLAGL1 NEUROD1 HNF4A IL6 LRPPRC SCN4A BLK HP_HYPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPROTEINEMIA ALB PRF1 SLC25A13 LYST UBR1 RAG1 ACADVL B2M DCLRE1C NPHS1 RAG2 CD55 TMPRSS15 DPAGT1 LAMB2 HP_GLYCOSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLYCOSURIA ETFA GATM CLCN5 CTNS GYS2 HNF1B SURF1 STAT3 EIF2AK3 ATP7B HNF1A SLC34A1 NDUFAF6 INS KCNJ11 NSMCE2 SLC2A2 KLF11 MT-TN PAX4 ABCC8 HNF4A SLC5A2 APPL1 GCK ETFDH PDX1 LMNA SLC5A1 ETFB GATA6 CEL FAN1 NEUROD1 SLC16A12 ALDOB EHHADH COA8 BLK HP_HYPERLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPIDEMIA LRP6 RSPO1 LCAT SLC37A4 SMPD1 CYP7A1 PPARG PHKA2 PCSK9 CYP19A1 CIDEC PYGL TMEM43 LDLRAP1 PIGT ALMS1 CAVIN1 ABCG5 LEP CFHR1 ADCY3 CPT1A APOC3 ACTN4 LIPC FLII LMNA POLR3A BSCL2 PLIN1 SGPL1 RAB27A FARSA JAG1 RAI1 POLD1 CEP19 PRF1 ABCG8 SLC29A3 AKT2 CAV1 PSMB8 PSMB4 GLA SLC25A13 LIPA FHL1 XIAP DCAF17 CETP MTX2 AGPAT2 ALB PIGH HAVCR2 APOB NPHS2 DGAT1 LIPE SLC7A7 XRCC4 LYST STXBP2 G6PC DEAF1 NPHS1 AGL UNC13D ZMPSTE24 GYS2 AEBP1 CPT2 CFH GPD1 PNPLA2 FECH TTPA NSMCE2 SLC2A2 APOA5 LMAN1 PHKG2 LDLR EMD ABHD5 FOS TFG PSMB9 SYNE2 APOE MCFD2 MYO5A IQSEC2 STX11 ABCA1 PLVAP LPL GK LEPR SYNE1 APOC2 CFHR3 MC4R HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE ERCC6 GTF2H5 ERCC5 MPLKIP GTF2E2 ERCC3 RNF113A DDB2 ERCC2 XPA TARS1 XPC ERCC4 HP_HYDROXYPROLINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROXYPROLINURIA SLC36A2 SLC6A19 PLOD2 ALDH4A1 TNFRSF11A PRODH SLC6A20 TNFRSF11B SLC6A18 HP_INCREASED_URINARY_POTASSIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINARY_POTASSIUM CLCNKA CLCNKB GATM EHHADH SLC34A1 NDUFAF6 BSND SLC12A1 KCNJ1 HP_FRACTURES_OF_THE_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRACTURES_OF_THE_LONG_BONES TNFRSF11A MTAP TAPT1 TBCD SQSTM1 CLCN7 HP_ACROMESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMESOMELIA KIF15 NPR2 GDF5 RAC1 NGLY1 HP_HAMSTRING_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMSTRING_CONTRACTURES SELENON OPA1 ABCD1 ANO5 CAPN3 ACTA1 HP_SHORT_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FEMUR RNU4ATAC GDF5 AMMECR1 TAPT1 PUF60 POLR3A SLC26A2 TBX15 COL11A1 AGPS FLNB BHLHA9 ZBTB16 IHH DDRGK1 FGFR3 TBX4 ALG12 COL2A1 HP_SLENDER_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_LONG_BONE LARP7 ITCH BRF1 ORC6 RAB3GAP2 MGAT2 PCNT RSPRY1 SCARF2 PIGT COL1A2 OBSL1 NFIX ATP6V0A2 TBCE CDC6 MAFB SON MUSK KCNJ2 NSMCE2 CCDC8 FDFT1 ORC1 VAC14 B3GALT6 CDC45 PDGFRB GLE1 P3H1 FIG4 CUL7 CDT1 FAM111A ORC4 COL1A1 ERCC1 PIGU HARS1 GMNN HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY CIT MAN2B1 TBCE WDR62 KNL1 FBN1 LRP5 HPGD MAP11 FAM111A CEP63 SLCO2A1 LIFR SASS6 SOST PTDSS1 AGA NCAPD3 TCIRG1 WNK1 FARSB LEMD3 TENT5A LRP4 PYCR2 PHC1 CEP152 NSDHL GJA1 TBXAS1 CYP27B1 MFSD2A ASPM TRPV4 ANO5 NF1 PLEKHM1 COPB2 COL1A1 SETBP1 VDR CYP2R1 KIF14 SCN9A STIL GLE1 FLNA TAF13 CLCN5 MCPH1 CDK6 METTL5 ADAMTS10 TGFB1 SH3PXD2B RETREG1 ANKLE2 CDK5RAP2 DMP1 ENPP1 AKT1 TNFRSF11A PTH1R SLC34A3 CLCN7 CEP135 KIF1A CENPJ PEX19 HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION LRP6 RSPO1 LCAT SMPD1 CYP7A1 UBR1 CYP11A1 PPARG PHKA2 TDP1 PCSK9 APOA5 TMEM43 APOB LDLRAP1 TBL1X CCDC115 SLC2A3 ABCG5 APOC3 APOA2 PANK2 LIPC FLII LMNA PYGL DYRK1B FDFT1 ABCG8 NUP107 JAG1 RAI1 CEP19 NPC2 ABCA1 OCRL EBP CAV1 PSMB8 FLCN RTL1 DHCR7 NSDHL CCT5 GPIHBP1 SLC25A13 GALK1 LIPA LDLR FHL1 BSCL2 CYP27A1 APOA1 CETP AGPAT2 MTTP DLK1 DGAT1 HTT SLC7A7 PMM2 DMPK ATAD3A DEAF1 GALNT2 CAV3 NGLY1 MEG3 SAR1B TTPA GHR APTX COG4 ABCA2 PHKG2 EPHX2 DHCR24 PIK3R5 EMD PPP1R17 FOS SYNE2 MSMO1 APOE SC5D IQSEC2 CAVIN1 TMEM199 ALB LBR NPC1 LPL ALMS1 ANGPTL3 HSD3B7 SYNE1 PEX12 SETX MEF2A UBE3B HP_HYPERPHOSPHATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHOSPHATURIA KRAS GNAS SLC9A3R1 ENPP1 CTNS SLC34A1 SLC34A3 OCRL SURF1 ABCC6 FGF23 HNF4A NRAS ATP7B GCM2 CASR DMP1 ALDOB MEN1 EHHADH SLC2A2 MT-TN CDC73 COA8 HRAS PTH1R CLCN5 HP_ABNORMALITY_OF_URINE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS LCAT CLIP2 CYP11A1 SUGCT TBC1D8B CDKN1A CTNS GUCY2D PEX5 AGA TNFRSF11B GCSH IFT122 RMRP HLA-DRB1 BCS1L HSD11B2 IDH2 ATP7B ALK CYP11B2 BTNL2 PAH DIS3L2 XPC DDB2 NOTCH2 MMACHC HNF4A PREPL RYR1 IDS GATA3 PSTPIP1 KRT18 OTC MT-TK HPRT1 MT-TE TSC2 GSN KCNJ5 SLC25A13 PPM1B ITGA8 PIEZO1 FUCA1 MT-TV RPIA TBL1XR1 TANGO2 PHKA2 SLC6A19 ASS1 PDSS2 TBL2 MT-ND5 SLC19A2 G6PC GABRA3 RARA GLB1 TIMM50 STK11 SLCO1B1 TGFB1 F10 SLC34A1 MCEE KCNE5 MT-ND6 BICC1 FN1 SLC22A12 NPHP1 GAA NUP93 TREX1 KIF1B CPS1 GUSB ERCC8 LIMK1 ITGB3 DNASE1L3 HGD SLC25A11 MT-TL1 CORIN NNT CFH CYP24A1 PCCB ATAD3A FMO3 LAGE3 WDR73 YAP1 IRAK1 TMEM70 CPT2 ITGA2 ENPP1 STAT2 ANLN SLC1A1 HMGCL PLOD2 APOE MVK MOCS1 NABP1 TTC37 NR0B1 CDC73 CTH HLCS HPD INS FGF23 MTHFR HADH GLUD1 POLG ABCC8 ACADS MT-TF GNA11 AUH SLC9A3R1 PRKAR1A SERAC1 CD320 GP1BA GLA MUC1 MT-ND2 SLC3A1 CEL FAN1 PFKM SCNN1A SLC36A2 PRTN3 MPC1 L2HGDH BRCA2 TNFRSF11A TP53 CACNA1S SLC34A3 PEPD D2HGDH STX16 HBB SLC25A20 GNAS AMMECR1 PKD1 HMBS MMAA FBP1 OAT GATM SLC25A4 MCCC1 HLA-DPA1 ACADM TXNRD2 FOXC2 SCARB2 NT5C3A STOX1 SDHC HCFC1 GEMIN4 DLST CLPB PGAM2 KRT8 ELN MEFV TRNT1 MT-TW MCFD2 OCRL GATA6 PRPS1 ERCC4 CLDN16 CASR COA8 SLC12A3 RRM2B APOA1 KRAS CPOX ATP6V0A4 COL2A1 TMEM127 COX14 TOP2A SUMF1 FCGR2A MAFB GCDH F8 EPAS1 NUP133 STAT3 FLAD1 CYP27B1 ERCC6 NUP107 WT1 TBC1D24 TRIM28 HIBCH SLC5A1 SDHAF2 GTF2IRD1 ETFB OPLAH TSC1 COQ2 ABCC2 PYGM TPRKB DMP1 ACAD8 RFC2 GLYCTK ITGA3 CYP21A2 SLC6A20 MT-TS2 MCCC2 COQ6 HRAS GP1BB XDH LAMB2 GALT LPIN2 PMM2 THBD CDKN1B HSD3B2 CFHR5 HADHB SLC37A4 LRP2 CLCN5 ACVRL1 NDUFAF6 PRODH ABCD4 PEX1 NAGA PET100 REST IDUA PTH1R KCNJ10 SDHA SARS2 PDX1 MT-ATP6 KYNU ADAMTS13 NEUROD1 STAT4 MAF GCM2 CD59 SUCLG1 ALDOB GK NAGLU PGK1 LIN28B MAX GLDC HELLPAR INSR NPHS1 AVPR2 SPRY2 CLCNKB SAA1 SDHD SLC7A7 ETFA DCXR ERCC3 COL4A4 HSD17B10 RET NRAS CDKN2C HNF1A ACTN4 DNAJC19 ALDH4A1 HADHA OPA3 SARDH PIGA NOS3 ERCC5 FXYD2 MMAB INF2 CD46 AGXT PNP BLVRA MT-TQ GALK1 BCKDHA EHHADH GDNF NEU1 UROC1 MTX2 ALPL CNNM2 NPHS2 COL4A6 ITGB4 MDH2 ERCC2 SDHB ISCU GATA1 ACSF3 IER3IP1 PHOX2B COL4A5 ETHE1 NUMA1 LMAN1 FARS2 SMAD4 SLC5A2 BAZ1B MRAP FIP1L1 LMNA LMO1 PAX2 VHL ITGA6 ACADVL CA5A DGKE TK2 CRPPA IVD NDUFB10 UMPS IRF2BP2 PHEX CLDN19 ADCY10 GCLC ATP5F1E CASK PCK1 SUCLA2 SLC25A15 TP53RK KCNJ1 STAT5B HAL SLC16A1 HFE PCCA MT-ND1 MLXIPL CFI CYP11B1 AGGF1 B2M APRT SCNN1G GALE PTPN22 CDKN1C GTF2I PML PLCE1 ENG CLDN10 MAGI2 BCOR MTR MT-CO1 WDR19 SLC35A1 FAM20A ALAD MIR140 LMX1B SNX14 GSS PET117 NUP85 KANK2 EGF COL4A1 NGLY1 MLYCD LMNB2 G6PD PHKG2 SGSH APPL1 FAH WDR4 TRIP13 ASL LDHD GCK KCNJ18 COL4A3 SMARCAL1 GPC3 SCO1 ASPA PKD2 CLCNKA DMGDH COQ8B MC2R FLT1 TRAF3IP2 DPYD FKRP PIGB C3 GBA GNPTAB GNAS-AS1 EIF2AK3 MRPS2 KLF11 OFD1 ETFDH CDKN2B MT-CO3 MAGED2 GRHPR TAT SLC16A12 ITGA2B SUOX BTD TAZ SLC52A1 CD109 DDOST SLC12A1 HTRA2 SLC25A1 ABCC6 OSGEP BCKDHB FTCD F2 ACP5 IL17F SLC7A9 MAN2B1 PUS3 TRPC6 CTLA4 SLC25A21 ZAP70 CD2AP DBT SLC25A19 KCNJ11 ACAD9 MT-ND4 PIGT INPPL1 AQP2 SCNN1B BLK PIK3C2A PPOX PDP1 NPM1 LYZ ZBTB16 SPP1 HNF1B ACSL4 SPINK5 VPS33A SLITRK6 SGPL1 DHTKD1 SLCO1B3 LPIN1 AMT PTPRO FH MARS1 GP9 SERPINF2 MOCS2 MEN1 MICOS13 DMD OXCT1 NUP160 ANO5 ARG1 CAMKMT CFTR HMOX1 SNAP29 BSND CFB MT-TN TCN2 ALDH5A1 HYAL1 H19 XPA SLC2A2 GANAB UROS CYP2R1 POU6F2 NF1 SLC6A18 MT-TH CLEC7A MYH9 HOGA1 PRDX1 STAR ATP1A1 LDHA ACAT1 PHKA1 SH2B1 MANBA NIPBL PYGL SURF1 ATPAF2 GPC1 OGDH GPHN PAX4 NADK2 DGUOK GALNS TKT DBH FGA ATP5F1D IL17RC LMBRD1 AMN MYO1E CBS F5 GDF2 MMUT CUBN SLC52A2 GNS DNMT3A IL17RA MTRR GYS2 MMADHC ARHGDIA SREBF1 SGCB NSMCE2 HACE1 AGK HGSNAT SLC26A1 HLA-DPB1 MYCN DLD MT-ND3 AP2S1 ARSB MT-CO2 HP_ABNORMAL_BLOOD_ION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_ION_CONCENTRATION AP1B1 CLIP2 UBR1 CYP11A1 TRDN CDKN1A CTNS DSG1 TNFRSF11B TBX1 IFT122 SCNN1G RMRP KCNQ1 FARSB KCNJ1 HSD11B2 TTC37 SNTA1 ATP7B SPATA5 CYP11B2 BTNL2 VHL ENPP1 MLXIPL HNF4A HFE PREPL RYR1 CYP11B1 CYP2R1 PRF1 OCRL FAM20C SEC24C CDH23 CDKN1C PIEZO1 CACNA1D GTF2I KCNJ5 PPM1B CLDN10 CLCNKB ABCC6 GNAS CDC73 GATA3 CLCN2 SLC3A1 SLC7A7 TBL2 CLCN5 DGCR8 CNNM2 SCN5A FAM111A SLC4A1 GABRA3 EGF GP1BB SLC34A1 HADHB PHEX LAMC2 SKIV2L KIF1B AVPR2 TRIO LIMK1 FAH SLC25A11 HLA-DRB1 CLCN7 SLC39A14 KCNJ18 NNT INVS CYP24A1 ABCB6 STEAP3 SNX10 SCN4A CLCNKA MC2R ANK2 GATM TBCE SDHB MEN1 SCNN1A GNAS-AS1 NR0B1 KL COMT AIP FGF23 SLC30A10 SLC30A2 GNA11 SLC39A8 SLC9A3R1 USP8 CDKN2B MAGED2 SMAD4 PTH OSTM1 TNFRSF11A PKLR TRAF3 AQP2 WNK1 TLR3 CACNA1S BMPR1A SLC34A3 SCNN1B NOTCH3 DGCR2 FGFR1 STX16 TICAM1 MAX PGAP2 SLC12A1 BTK COL7A1 RET BCS1L ALG12 NSD1 KCNJ2 TXNRD2 TRNT1 SDHC DLST PRKAR1A VDR NR3C2 ELN PIK3C2A SLC12A3 MMP1 CALM3 LAMA3 PLVAP AKAP9 CLDN16 HJV INPPL1 EHHADH TMPRSS6 ORAI1 PPOX UNC93B1 ATP6V0A4 TMEM127 CACNA1C CPOX DGCR6 CDKN1B HBB CARD9 CASR CCND1 EPAS1 UFD1 TCIRG1 CP CYP27B1 ELP1 TNFSF11 STAT6 LPIN1 ACADVL TBX19 HAMP TDP2 SDHAF2 GTF2IRD1 FH ESS2 SCN4B RREB1 PKHD1 COL4A3 CAV1 PDE4D DMP1 RFC2 HIRA SLC30A9 CALM1 SEMA3E GCM2 PCBD1 SDHD HRAS HSD3B2 KCNE3 NOS1AP CAMKMT KCNJ10 CAV3 TBK1 CHD7 ATP6V0A2 FOXP1 NDUFAF6 BSND INSR PTH1R SLC2A2 CA12 TRPM6 SDHA SARS2 CCBE1 SETD2 NF1 SCO2 ALDOB HADHA COL3A1 JMJD1C SCN10A ATP1A1 ALPL KIF23 GALNT3 ADAMTS3 LAMB3 PIGT STAR NRAS CYP17A1 CDKN2C KLHL3 DZIP1L KCNE1 IARS1 FXYD2 NR3C1 SAMD9 KCNE2 APC2 CUL3 SLC5A1 GDNF BMP2 CSF1R NUP214 WNK4 AP1S1 KRAS LYST DNMT3A FOXP3 MDH2 CYP3A4 ALAS2 ARVCF SLC26A3 FAT4 SLC2A1 BAZ1B MRAP HMBS PDGFRB KCNH2 NAB2 COG2 AP2S1 CALM2 NFKB2 KCNN4 TP53 TFR2 CLDN19 ARNT2 HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION MT-ND4 PDHX COX6B1 PLAU OTC PCK1 MAT1A GUCY2D SLC25A15 TNFRSF11B GCSH TALDO1 NADK2 TMEM70 GLUL GLRX5 TTC37 A2M HAL PAH HPD ALDH4A1 MMACHC NDUFA13 KYNU MTHFR HFE MTRR PSPH SLC30A10 SARDH MIPEP ASL BCKDK MMAB ADK PTS AMT GCH1 PC LMBRD1 MT-ND2 TAT AHCY SLC25A13 MRM2 AASS BCKDHA MTR FBXL4 IRF6 MRPL3 NAGS GLYCTK CBS PNPLA8 TRMT10C UROC1 MT-TV SPR MCCC2 PCBD1 MMUT TYMP SLC7A7 PNPO ASS1 QDPR MT-TW MMAA PHGDH LIPT2 FBP1 OAT MT-ND1 PET117 COX5A MMADHC ARG1 MTO1 MCCC1 BCKDHB FTCD PSAT1 TMEM126B COX8A PRODH ALDH5A1 ABCD4 MDH1 RRM2B GNMT BCAT2 MT-ND5 CPS1 MT-ND6 FAH MT-TL1 APP MT-ATP6 MICOS13 NOS3 DBT POLG COQ9 MPO PDHA1 SUCLG1 SCO1 DLD PCCA ASPA MT-ND3 CTH CA5A GLDC PCCB DMGDH MT-TK NDUFB10 PRDX1 COX10 ATP5F1A PDP1 HP_HYPOCHLOREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHLOREMIA MAGED2 CLCNKA BSND SLC26A3 SLC12A1 KCNJ1 CLCNKB HP_ABNORMAL_ECHOCARDIOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ECHOCARDIOGRAM PPCS TTN POLG DYSF LAMA2 POLG2 FBN1 FXN SLC25A4 TWNK RRM2B GTPBP3 HP_ABNORMAL_CIRCULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_HORMONE_LEVEL CLDN19 RHO NODAL CYP11A1 ANOS1 PPARG CDKN1A AMH FSHR MCOLN1 PROP1 POLA1 MC4R FOXL2 INS NANOS1 PRKAR1A GLUD1 LARS2 SMARCE1 EYS AIP HSD11B2 FANCI KMT2A DISP1 RP2 RPGR PROKR2 PRPF4 PDE6B THOC2 HNF1A POR HNF4A SIX3 NR5A1 KANSL1 CYP11B1 SAG IL17RD PRKACA OCRL IFT140 NRL SNRPN CDH23 IGFALS CDKN1C ABCC8 GHRHR B4GALNT1 HFE C8orf37 NDN AMHR2 BSCL2 GNAS FAM20A MEN1 PDE8B SMC1A SMARCB1 DMRT3 ARL2BP RP1 SHH SLC7A7 ARMC5 LHB LHX4 BRCC3 AHI1 XRCC2 FAM111A NFKB2 STAG3 ZMPSTE24 POMGNT1 CLRN1 WDR11 AIRE ADNP HYMAI RFWD3 ZFP57 GATA4 HESX1 LHCGR SDHD EIF2B2 DAXX TBX1 TSHR HERC2 GATC CDON FGF8 PWAR1 EIF2B3 APPL1 WASHC5 RET PTCH1 DLL1 MECP2 ZNF513 AKT1 SLC25A11 GRM7 GAS1 PCARE TDRD9 DCAF17 TRMT10A RP9 GLI2 NNT MCM8 GMNN PITX2 ALMS1 GPR101 FSCN2 NPAP1 PROK2 MC2R YY1 SNORD116-1 ZIC2 TEX15 ARL6 TDGF1 TRAF7 SPRY4 BNC1 PSMC3IP DCC IGF1R TP63 EIF2S3 KIAA1549 NEK2 SIN3A PMM2 TGIF1 SEMA3A GNAS-AS1 NR0B1 CERKL CDC73 KL INSR IFT88 POLR3A KLF11 MKRN3 HADH SNORD115-1 AAAS VHL FIGLA FMR1 MADD MARS2 PDE4D POMC FGFR1 RGR GCK IMPDH1 SHROOM4 IFT172 KISS1R CDKN2B FANCM ZFPM2 PTH CEL TTC8 DHX37 SUFU TAC3 POLE KATNIP FGF17 SDHB TG GATB LEP TACR3 VAMP7 SRY GNRHR STX16 NSMF MAX SOX9 NF2 SOHLH1 MEIOB OCA2 USH2A RPE65 AGBL5 LEPR ARHGEF18 KCNJ11 AR CBX2 ACP5 TXNRD2 SDHC CDHR1 HSD17B4 DLST GALT VDR LHX3 FOS FOXA2 CYP17A1 ZNF408 HGSNAT IGF2 NDNF SYCE1 PLAGL1 RBP3 CA4 SOX3 PDE11A GHSR LMNA ABCA4 CASR MAP3K1 BLK PCSK1 TMCO1 KIF1B SMPD1 SLC7A14 HPGD NUP107 GLI3 EIF2B1 SNRNP200 TOPORS ZMYND15 DUSP6 CAVIN1 CDKN1B HFM1 USP9X SEMA4A ABCD1 SBDS IDH3A FLNB SIM1 CNGB1 CYP27B1 ERCC6 ESR1 PLIN1 POU1F1 WT1 FEZF1 MAGEL2 DIS3L2 STAT6 THRA BBS2 MRAP TBX19 SDHAF2 SRD5A3 FH SCAPER TRHR DUOX2 PDE6A CNBP KIZ TBCK RBM28 RP1L1 RRAS2 BAP1 ZNF148 MAFA POLR3H SEMA3E SPIDR TEX11 STAT5B LIPE KLHL7 THRB PNPLA6 HSD3B2 USP8 LRAT SLCO2A1 SYCP3 CRX GDF9 PDGFB CYP11B2 CHD7 STAG2 GH1 CYB5A POU3F4 MCTP2 PROM1 SRP54 AKT2 RNU4ATAC SDHA PDX1 ADAT3 CYP2R1 BTK NF1 TBX2 ATRX NEUROD1 IMPG2 GCM2 KLHL10 HS6ST1 AHR FOXH1 CCDC141 MAK SMO VPS13B PDE6G CRB1 CTDP1 TERT GNRH1 NLGN3 TBL1X STAR SPATA7 GCGR SLC16A1 PRPF3 PRCD IARS2 CDKN2C EIF2B4 PREPL SH2B1 PAX4 RDH12 RNF125 RNPC3 SLC29A3 TMEM127 NR3C1 TULP1 DBH DHX38 CAV1 SLC39A4 CIDEC SLC34A3 DMXL2 TAF4B SOST EIF2B5 DNAJC21 GALK1 MPI RLBP1 CNGA1 NR2E3 AGPAT2 TMEM67 CEP57 WDR4 FSHB TBCE PRPH2 REEP6 DMPK ARL3 MDH2 NLGN4X GUCA1B UCP2 IDH3B EFL1 CYP3A4 PWRN1 TUB SOX10 BMP15 BEST1 NSMCE2 PRPF31 FAM161A DYRK1A PRPF6 AFF4 MERTK QRSL1 PPP2R3C FLRT3 ESR2 IRS4 ROM1 GHR CFTR PRPF8 MRPS22 NAB2 DHH TEX14 HTR1A PIK3CA OTX2 OFD1 TP53 PHEX DHDDS ARNT2 KISS1 NR2F2 WWOX WNT4 HP_INCREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL CDKN1B MEN1 ARMC5 GNAS NR3C1 CDKN2C CDKN1A CDKN2B HTR1A PDE11A PRKAR1A TP53 PDE8B AIRE PRKACA RET HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION RSPO1 LCAT CLIP2 SLC37A4 SMPD1 CYP7A1 UBR1 CYP11A1 PPARG PCSK9 PEX5 ACADM TMEM43 LDLRAP1 PEX19 NADK2 ALMS1 CCDC115 CAVIN1 ABCG5 KCNJ1 ADCY3 ABCD1 CPT1A APOC3 APOA2 LIPC FLII MMACHC HNF1A BSCL2 PYGL HNF4A CTNS PLIN1 ABCG8 SGPL1 RAB27A NUP107 FARSA RAI1 NPC2 PRF1 OCRL ACADVL MT-TK SLC29A3 PSMB8 PEX1 ABCC8 GTF2IRD1 MT-TE GTF2I DHCR7 NSDHL CCT5 GPIHBP1 SLC25A13 PEX10 LMNB2 CAV1 TDP1 ACAD8 LMNA RFC2 TBCK LDLR FHL1 CYP27A1 XIAP ABCA1 TANGO2 PEX14 ALB MTTP PHKA2 HAVCR2 DLK1 DGAT1 AR LIPE SLC7A7 PMM2 TBL2 STXBP2 G6PC DEAF1 NPHS1 AGL ZMPSTE24 CFH NGLY1 POU2AF1 APOB TTPA SLC34A1 NDUFAF6 CPT2 GHR PEX13 PEX26 ABCA2 PHKG2 EPHX2 DHCR24 EMD SAR1B ACAD9 LIMK1 ABHD5 TFG TNFSF15 PSMB9 SYNE2 MSMO1 MYO5A IQSEC2 NSMCE2 DCAF17 SLC22A5 STX11 SCO1 LBR GK HSD3B7 LPL APOC2 CFHR3 PEX11B LRP6 HMGCL IL12A PEX12 CYP19A1 CIDEC APOA5 PIGT TBL1X SLC2A3 LEP SPIB PNLIP CFHR1 SLC25A20 PANK2 ACTN4 POLR3A HADH DYRK1B MMEL1 PLA2G4A FDFT1 PEX7 JAG1 POLD1 CEP19 PEX6 MT-TL1 EBP AKT2 FLCN RTL1 PSMB4 GLA GALK1 ACADS LIPA PEX16 APOA1 CETP MTX2 AGPAT2 PIGH IL12RB1 NPHS2 SLC52A1 PEX2 HTT XRCC4 LYST DMPK ATAD3A LTC4S LMBRD1 SLC12A1 GALNT2 UNC13D GYS2 GATM COL7A1 UCP2 CAV3 AEBP1 GPD1 MEG3 ACOX2 PNPLA2 FECH PEX3 KCNJ11 SLC2A2 FBN1 APTX COG4 LMAN1 PIK3R5 PPP1R17 BAZ1B ELN FOS IRF5 TNPO3 MMP1 APOE MCFD2 SC5D TMEM199 TRMU PLVAP NPC1 DLD LEPR ANGPTL3 SYNE1 PHYH EHHADH PLA2G7 SETX MEF2A MC4R UBE3B HP_LIMB_JOINT_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_JOINT_CONTRACTURE NOD2 UNC80 HES7 ABHD12 NALCN MED12 PEX5 FBN2 WNT5A STAT3 BCOR IRF5 KY TPM2 SKI ACTA1 PIEZO2 ALDH18A1 ANKLE2 MAP3K20 TGFBR1 TRPS1 COL12A1 PDX1 FKTN GLI3 PSMB8 MEG3 TBX15 ITGB4 POMT1 NSUN2 RNU4ATAC LMNA FHL1 FGFR2 GARS1 ALG3 SPEG LAMB3 HOXD13 CRPPA ROR2 TNNT1 TELO2 BRF1 LAMA3 TBR1 AUTS2 ITGA7 DDR2 ALX1 GFM2 CLCF1 NGLY1 CDC6 SELENON MUSK MAP3K7 SDHAF1 ERCC5 UPF3B CDH3 SDHA HINT1 ORC1 DHCR24 TP63 HRAS SLC26A2 PTDSS1 WDR4 NUP88 GCK SGCA SIGMAR1 CDT1 TTN SHH ADAMTSL2 ERCC1 HUWE1 WDR73 TMEM70 FZD2 COL6A1 CHRNG PYCR1 PAX3 TNNI2 PLOD2 FKRP FKBP10 HSPG2 CNTNAP1 GMPPB TRPV4 NEB COG5 FGFR3 TUBB3 GPKOW SMC1A FLNA EED WNT7A MESP2 COL6A3 ALS2 SMG9 FDFT1 MYH3 GPC4 ALX3 MED25 SLC39A8 RPL10 PNPT1 CTDP1 GJA1 IL6ST CRKL GDF5 B3GAT3 NLRP3 PIGL TNNT3 LMBR1 PQBP1 PIK3R2 BICD2 TWIST2 CTCF RAB23 LARGE1 TP53RK MAPK1 KCNAB2 IGHMBP2 L1CAM POLR3A FLVCR1 RIPPLY2 ZBTB20 SRD5A3 GNPTAB DLL3 SIK3 MYBPC1 MYL2 PIGY LGI4 COL6A2 SLC35A2 KAT6B NSD1 CAPN3 OTUD6B OSGEP FIG4 WDR26 ATP6V1E1 BMP4 ZDHHC9 LIFR GABRD SLC39A13 LAMC2 NT5C2 SPRTN PEX1 OCRL SLC10A7 ZC4H2 SDHB CCN6 EMG1 FBXW11 CNTN1 MORC2 PIK3C2A RERE DOK7 COL2A1 ERCC4 TMEM43 CAV1 CCR6 KIAA0319L ALG2 SH3PXD2B FGD1 EXTL3 MAFB ABCD1 F8 XYLT1 ASXL1 AMER1 ERCC6 ABCC8 SUZ12 SRCAP FUS ERLIN1 NUP133 LAMA2 MEGF10 DLK1 NAA10 ARID1B IKBKG EMD ZMPSTE24 TPRKB POR ESCO2 COL11A2 PRG4 SMAD3 KIF5A GJB2 OPA1 TGFBR2 SEPSECS EZH2 GPC3 ORC4 DYRK1A ERCC2 BCR ATR SPTBN4 GFPT1 PLEC ANO5 DAG1 DDHD2 COL11A1 PIGN ERLIN2 PSAT1 GTF2H5 KCNJ11 PTRH2 DVL3 MMP2 NOG TGDS IDUA PTH1R SMOC1 RYR1 CCBE1 SETD2 MYOD1 SYNE2 MBTPS2 CHST3 FBN1 DVL1 PHGDH SMARCAD1 KLHL9 PLOD3 KDM5C KCNK9 TBX3 ECEL1 CRLF1 GMNN PEX6 ERGIC1 ADAMTS3 NIPBL SCARF2 PITX1 BAG3 SDHD UBA1 CUL4B TRIM2 NXN PLEKHG5 IDS MYH7 SPG11 GJB1 SLC29A3 P4HTM UROS RTL1 SLC18A3 PSTPIP1 APC2 TPM3 SLC6A9 CANT1 DHODH SGCG HACD1 PRDM16 MYO9A ALG14 TFAP2A ORC6 ACTG2 HLA-DRB1 MYOT ADAT3 FERMT1 TCTN3 RAPSN PPP2R5D DPAGT1 SLC25A19 C19orf12 SLC35A3 SNRPB FAT4 LAGE3 CCN2 TOR1A CPT2 INS SLC16A2 EFNB1 CDC45 DHX16 PHF6 COL17A1 ANTXR2 ERCC8 TOR1AIP1 RTTN PORCN LFNG KLHL7 SYNE1 ARX MT-TE NUP107 PLOD1 DPM1 BIN1 SVIL ECE1 HP_HYPERCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHOLESTEROLEMIA LRP6 RSPO1 SLC7A7 CYP7A1 DMPK PPARG PHKA2 NUP107 TDP1 PCSK9 DEAF1 APOB CAV3 LDLRAP1 TBL1X LIPA MEG3 CCDC115 ABCG5 TTPA GHR APOC3 FLII LMNA APTX COG4 CAV1 PYGL DYRK1B PHKG2 LDLR ABCG8 PIK3R5 DLK1 JAG1 RAI1 CEP19 FOS OCRL CYP27A1 RTL1 APOE IQSEC2 CAVIN1 TMEM199 SLC25A13 GALK1 ALB LPL BSCL2 CETP AGPAT2 SETX MEF2A DGAT1 HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA GATM LRP2 EHHADH CLCN5 SLC34A1 NDUFAF6 OCRL CTNS HP_HYPOCALCIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCIURIA AP2S1 CASR CLCNKB FXYD2 GNA11 KCNJ10 FAM20A SLC12A3 PHEX CLDN10 HP_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTIC_ACIDOSIS NDUFA11 SLC37A4 NDUFS4 ATP5F1E PDHX TUFM LYRM4 PCK1 MT-TS2 NDUFB3 LONP1 MT-CO3 LYRM7 TMEM70 LARS1 BCS1L TIMMDC1 NFU1 NDUFV1 HSD17B10 NDUFS6 NAXE MT-ND1 TKFC PREPL NDUFS2 COA6 MT-TF GTPBP3 MRPS34 FOXRED1 PDHB LIAS PC NDUFV2 COQ2 SCO2 SLC25A13 PPM1B NDUFB10 WARS2 SDHA USP18 MT-CO1 MT-ND2 SLC25A19 PNPLA8 TRMT10C MRPS7 TANGO2 PHKA2 AARS2 SLC3A1 SFXN4 NDUFA10 TYMP PDSS2 MT-ND5 G6PC HADHB LIPT2 MT-TC MT-TL1 CAMKMT DNM1L TPK1 MTO1 NDUFAF2 LIPT1 MLYCD MT-TT MT-ND6 NDUFAF6 PMPCA MT-TN GATC PHKG2 PET100 NDUFAF3 MT-TV NDUFA1 MT-ND3 SLC25A42 ACAD9 COQ8A NDUFAF5 BOLA3 MICOS13 UQCRFS1 NDUFS3 MT-CO2 MT-TH POLG NDUFB11 CYC1 SUCLG1 ALDOB LARS2 PCCA MT-TE NDUFA6 MT-CYB COX10 COX6B1 SLC25A4 OGDH NDUFAF1 PYGL SURF1 PUS1 EARS2 SLC25A3 MRPS14 ATPAF2 AGK HADHA HADH NADK2 TMEM126B MIPEP DGUOK MRPS16 MT-TQ NDUFS1 SERAC1 NDUFS8 ATP5F1D GFER DLAT PDHA1 SUCLA2 MT-TW BCKDHA FBXL4 PDP1 MPC1 ETHE1 YARS2 GATB NUBPL MT-TK TAZ UQCC3 MPV17 NDUFB9 NDUFAF8 FBP1 FH NDUFAF4 ISCU NDUFS7 ELAC2 BCKDHB SLC25A26 IBA57 COX8A RRM2B QRSL1 FARS2 DLD TRNT1 DBT COQ9 RMND1 MT-ND4 TRMU LRPPRC CA5A TK2 PCCB TSFM COA8 NDUFA4 HP_ABNORMAL_PERIPHERAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_MYELINATION MPZ SBF2 SPG11 CTDP1 MT-ND4 PMP22 KIF1C MAT1A UBTF GDAP1 TYROBP MOCS1 WNK1 MME TRIM2 PRPS1 PMP2 PSAP KIF1A MMACHC COX6A1 NDRG1 ZNHIT3 LITAF GJB1 SOX10 RAI1 SUMF1 FGD4 ARSA PLP1 RETREG1 DHH SBF1 RAB7A FLRT1 ASXL1 MT-ND2 HK1 DNM2 MOCS2 NEFL FLVCR1 VPS13A JPH1 DCAF8 MT-TV GAN SACS SURF1 MTTP MPV17 KIF1B ABCA1 TYMP MT-TW ERCC6 PRX LMNA MT-ND1 HACE1 ARHGEF10 KCNJ10 FAM126A GNB4 TPRKB C12orf65 GALC FA2H NDUFAF4 EGR2 APTX FIG4 LMNB1 RRM2B KLC2 MT-ND5 ERCC8 MTMR2 MT-ND6 SLC12A6 ELP1 TFG MT-TL1 MT-ATP6 DHX16 NTRK1 PLEKHG5 SPTLC1 POLG INF2 DNMT1 MT-ND3 GCDH LRPPRC COQ7 SH3TC2 MT-TK HSPB8 SCN9A NGF MORC2 MFN2 HP_CYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTINURIA SLC3A1 PREPL CAMKMT SLC7A9 PPM1B HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS RNASEH1 ATXN1 GCLC TDP1 GJB1 ATXN3 ATXN2 RRM2B PLP1 MAN2B1 HP_PROLINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLINURIA PRODH SLC6A20 SLC36A2 SLC6A19 OPLAH SLC6A18 ALDH4A1 HP_INCREASED_BLOOD_UREA_NITROGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_UREA_NITROGEN THBD CFHR1 DBH ELP1 CD46 CFB ERCC4 ERCC6 C3 CFH CFI FAN1 ADAMTS13 ERCC8 CFHR3 HP_PANHYPOGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOGAMMAGLOBULINEMIA TTC37 CIITA RFXANK GTF2H5 RFXAP DCLRE1C MPLKIP ZAP70 GTF2E2 SP110 ERCC3 RNF113A ERCC2 BTK RFX5 JAK3 RAG1 SKIV2L TARS1 RAG2 HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION SLC7A7 SMPD1 CYP7A1 ABCG8 PCSK9 LCAT SYNE2 APOE TMEM43 TMEM199 GHR SLC25A13 CCDC115 ABCG5 LMNA TTPA LDLR APOA2 FHL1 SYNE1 ABCA2 LPL LDLRAP1 EPHX2 APOB EMD PPP1R17 CEP19 HP_INCREASED_SERUM_SEROTONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_SEROTONIN MEN1 SDHD CDKN2C DAXX SHROOM4 CDKN1B MECP2 CDKN1A CDKN2B SNRPN NLGN4X NLGN3 ATRX HP_DECREASED_ADENOSYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADENOSYLCOBALAMIN MMADHC LMBRD1 MMAB MMACHC PRDX1 MMAA ABCD4 HP_HYPOCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHOLESTEROLEMIA ABCA1 PMM2 FLCN MTTP ATAD3A MSMO1 HSD3B7 PEX12 DHCR7 FDFT1 CCT5 SAR1B UBE3B HP_HYPERURICOSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERURICOSURIA PRPS1 ALDOB GATM EHHADH SLC34A1 NDUFAF6 HPRT1 HP_GLUTARIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUTARIC_ACIDURIA ETFB ETFA HMGCL GCDH ETFDH D2HGDH SUGCT DNAJC19 HP_INCREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ACTH_LEVEL POR CYP17A1 NR3C1 DAXX MC2R AIP CYP11A1 HSD3B2 MRAP USP8 CYP11B1 ATRX HP_HYPEROXALURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROXALURIA AGXT PEX1 GRHPR SLC26A1 HOGA1 HP_FASTING_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPOGLYCEMIA INSR GCDH IARS2 PCK1 SLC25A20 SLC2A2 TBX19 FBP1 HNF1A HNF4A PHKG2 PHKA2 IGF2 GYS2 SLC1A1 HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID ALAD FAH HMBS CPOX PPOX HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY FLRT3 CCDC141 ANOS1 NDNF DUSP6 SPRY4 DCC PROK2 CHD7 WDR11 SEMA3A SOX10 HESX1 FGF17 PROKR2 HS6ST1 FGFR1 TACR3 FGF8 KISS1R IL17RD FEZF1 NSMF HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL VDR GNAS CYP2R1 CDC73 SOST CYP3A4 GNAS-AS1 CDKN1B PDE4D STX16 GCM2 CASR PRKAR1A MEN1 KL CYP27B1 NF1 PHEX HP_ABNORMALITY_OF_THE_ACETABULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ACETABULUM COMP MIR140 SLC26A2 CANT1 SERPINF1 FKBP10 CENPJ DYM MATN3 TIMM22 EVC AP4M1 XYLT1 HSPG2 TRIP11 GNPTAB COL1A2 CEP120 VPS33A EXTL3 EIF4A3 RINT1 IFIH1 DYNC2H1 GPX4 RNU4ATAC COG1 HYAL1 FBN1 GUSB GLB1 NANS MMP2 UFSP2 CSPP1 TBX4 DYNC2I1 B3GALT6 SMAD3 RPS15A COL2A1 SLC35D1 FGFR3 BGN GATA1 DDRGK1 AP3B1 AP4B1 AP4E1 AP4S1 COL10A1 RAB23 COL1A1 SMARCAL1 KIAA0586 FGFR2 IFT52 WDR35 PTH1R POLR1A INPPL1 MYO18B CRTAP CHD4 TRPV4 CSGALNACT1 FLNB ARSB TGFBR2 EVC2 HOXA11 HP_ABNORMALITY_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_BONE HLA-DRB1 IRF5 DYM RNU4ATAC COL2A1 FLNA RUNX2 FREM2 TBX15 CCN2 ATP7A MATN3 CCDC8 CCR6 CAV1 SETBP1 KIAA0319L SMAD4 NSD2 INTU OBSL1 NELFA CUL7 KAT6B LETM1 COL11A2 FGFR2 GRIP1 WNT7A INPPL1 GSC ABCC9 FRAS1 NKX3-2 HP_ABNORMALITY_OF_THE_ISCHIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ISCHIUM HLA-DRB1 IRF5 LIFR TBX15 CCN2 CCDC8 CCR6 CAV1 KIAA0319L COL2A1 COL11A1 IFT43 OBSL1 CUL7 KAT6B EXTL3 COL11A2 FGFR2 PAM16 TRIP11 CDCA7 INPPL1 ABCC9 HP_HYPOPLASTIC_ISCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ISCHIA KAT6B COL11A2 FGFR2 TBX15 PAM16 TRIP11 CCDC8 CDCA7 INPPL1 ABCC9 COL2A1 COL11A1 IFT43 OBSL1 CUL7 HP_SQUARED_ILIAC_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARED_ILIAC_BONES NEPRO AEBP1 PLCB3 PTH1R INPPL1 RNU4ATAC CEP120 LONP1 PAM16 HP_PROTRUSIO_ACETABULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUSIO_ACETABULI COL1A1 FKBP10 FBN1 HSPG2 SMAD3 MMP2 CRTAP SERPINF1 COL1A2 TGFBR2 HP_FLAT_ACETABULAR_ROOF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_ACETABULAR_ROOF DYM MIR140 SLC26A2 COL2A1 CANT1 SLC35D1 FGFR3 BGN MATN3 XYLT1 DDRGK1 TRIP11 GNPTAB CEP120 COMP GPX4 IFT52 WDR35 COG1 INPPL1 NANS CHD4 TRPV4 CSGALNACT1 FLNB HP_SHALLOW_ACETABULAR_FOSSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ACETABULAR_FOSSAE SMARCAL1 GATA1 IFIH1 UFSP2 GNPTAB RNU4ATAC TBX4 HOXA11 RAB23 HP_WIDE_PUBIC_SYMPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_PUBIC_SYMPHYSIS DYM RUNX2 FRAS1 GRIP1 FREM2 HP_DECREASED_HIP_ABDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HIP_ABDUCTION MATN3 TNNT1 PCYT1A TPM2 PIEZO2 CHST3 HP_INVERTED_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVERTED_NIPPLES PMM2 NFIX RFT1 TBX3 ALG9 SOX6 PEX3 INTU MAN1B1 ALG11 ATN1 HNRNPK PIGT WAC ALG12 COG7 DPAGT1 KAT6A MEG3 SLC35A2 ACOX1 TCF20 RTL1 SLC25A46 RERE EBF3 DLK1 EZH2 WASF1 HP_BREAST_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_HYPOPLASIA TP63 ORC6 TBX3 ANOS1 SPRY4 HS6ST1 DCC WDR11 DUSP6 CHD7 SEMA3A SOX10 HESX1 FGF17 FGF8 PROKR2 USP9X FGFR1 TACR3 ORC1 IL17RD FEZF1 IKBKG FLRT3 NSMF CCDC141 KISS1R NDNF PROK2 ORC4 TWIST2 CDT1 MAF GNRH1 TAC3 ANTXR1 YY1 EFNB1 KISS1 GNRHR NIN POC1A FSHB ESR1 HP_LONG_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NOSE ABL1 SETD2 RNU4ATAC KAT6B SOX18 RECQL4 PIEZO2 NBN SOX11 ACTG1 PIGS XRCC4 GJA1 FGFR2 SLC9A6 ABCC9 THOC6 ACTB EXTL3 AP4E1 SPATA5 POLE TWIST1 ASXL3 NOTCH2 PIGU MED12 NOG OPHN1 AP1S2 JAG1 SATB2 HP_ALLERGIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGIC_RHINITIS COX4I2 CARMIL2 PGM3 SPINK5 MS4A2 PLCG2 IL4R PLA2G7 SIK3 HP_SHORT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NOSE ABL1 CLIP2 HSPA9 CACNA1G KRAS RAC3 PAK3 GLI3 CHSY1 NEXMIF WNT5A AGA TONSL ARSL FLNB KIAA1109 LTBP3 PIGV FZD2 CD96 EXTL3 ERF APC SIX3 TRMT10A KMT2A PAX3 DPYD CCDC22 MTOR FLII NRAS GPC6 VPS53 ZNHIT3 MLXIPL VPS33A CREBBP MBD5 FGFR1 RIPK4 DIS3L2 RAI1 FGFR2 B3GALT6 PYCR2 FAM20C COL11A1 HDAC8 DISP1 ZNF462 CDKN1C GTF2IRD1 PLCB3 GTPBP2 GTF2I SETBP1 PTEN ZSWIM6 DSE MOCS2 TRRAP RFC2 UBR1 NODAL TRIP12 NFIA NALCN PDE4D MEF2C PRKAR1A GPC3 DDR2 TGIF1 KIF1A MIR140 TBL2 PIGN FBN1 ALG9 BMPER SNRPN COX7B DEAF1 LIFR RNF13 RSPRY1 GPC4 GLI2 LRP2 WASHC5 MYH3 SPECC1L GAS1 SMC1A ADNP NXN FGF8 SETD5 ABCC8 LRP4 TCF20 SON FOXP1 PPP1R15B PEX6 FOXG1 GGCX DVL3 SLC2A10 SHOC2 ACTB DHCR24 PLAA BMP2 TRIO SMOC1 DVL1 CASK RAB18 RAB3GAP2 LIMK1 PTH1R HRAS ATRX PTCH1 TMCO1 BRAF IQSEC2 AFF4 PURA COG7 OFD1 ADAMTSL2 ROR2 PLOD3 MAF COL11A2 EFTUD2 NFIX GMNN ATAD3A RPS7 CHST14 KIF22 CDCA7 DNMT3B PLA2G6 SMC3 KIF7 MAP2K2 ADSL PHIP WNT7A TBC1D20 GRIN2A ERGIC1 TAPT1 ZIC2 SHH INTS1 MN1 MOCS1 YWHAE PUS1 NCAPG2 BPNT2 UBA1 SIN3A HDAC6 GLUL ASXL3 FUT8 FLNA TRIP11 MADD MARS2 EHMT1 RECQL4 COL2A1 MYMK MPLKIP BUB1B EDA SOX11 PIGO SLC26A2 POU1F1 HOXB1 DLL1 SC5D NIPBL CTCF MAP2K1 LONP1 CCDC88A PAM16 PAFAH1B1 B3GLCT PPP1CB SMO TXNL4A GBA PEPD CEP57 ADAT3 IL1RAPL1 CLP1 SUFU TCTN3 FAR1 SATB2 ATP6V1A PPP2R5D CANT1 RAB3GAP1 PGAP2 MED13L FGD1 ALDH6A1 POLR1A SLC25A24 FLI1 AVP GJA1 KCNJ11 TCTN2 ELN DPM2 DYRK1A SYT1 CDON TDGF1 BAZ1B SLC12A6 GATA4 PUF60 FOXH1 WAC ATP6V1E1 ATP6V0A2 ZBTB24 PARS2 VARS1 PIGT TBL1XR1 PIGU DCPS YARS2 RAD21 STAMBP INPPL1 PPP1R12A NPR2 ZMPSTE24 SPOP HIC1 UBE3B ECE1 HP_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHY CLIP2 GCLC CCDC174 DMD VCP ADGRG6 MT-TS2 PSEN2 CHRND NDUFB3 MT-CO3 HNRNPA1 FHL1 SIX3 ACTA1 HAND2 MT-ND1 MT-TF RAF1 CTNS TNPO3 MAP3K20 LARGE1 COL12A1 NUBPL FKTN DISP1 GTF2I NEB PTEN COL9A2 FXR1 POMT1 MYH7 COL9A3 MT-TQ MT-ND2 MYF6 DOLK MT-CO1 AGRN NODAL NEFH VPS13A SYT2 CAP2 RYR1 CHRNA1 MSTO1 AP1S2 CRPPA LMNA TNNT1 TXNRD2 TBL2 MT-ND5 TTN ITGA7 MT-TC AGL SCN4A GATAD1 GAS1 GNE SDHD SNAP25 LMNB2 CPT2 CHRNB1 SDHAF1 HADHB MYOD1 MT-ND6 LAMP2 SDHA MYBPC3 TNNI3 PRKAG2 CASQ1 MYPN POLG2 FHL2 LIMK1 RET MT-ND4 MT-ATP6 MT-TL1 ANO5 CHAT DYSF MT-TK CHRNE NARS2 PTCH1 TRAPPC11 BIN1 SGCA CFL2 SIL1 DSG2 COL6A1 TPM3 ANKRD1 SLC18A3 MYBPC1 DPM3 MUSK POMT2 VAMP1 SHH RRM2B FLNC KLHL41 CISD2 SELENON PDE8B PLEC MT-CYB HSPG2 PGK1 PABPN1 PUS1 SLC25A3 GMPPB COL13A1 NDUFAF1 BAG3 STIM1 COL6A3 ACADS C1QBP TAF1A PDE11A TWNK USP8 MTMR14 VCL BSCL2 NDUFS2 TMPO SQSTM1 DLL1 MT-TW KCNAB2 OPA1 DNA2 TAZ AKT1 MT-RNR1 PLN TK2 MT-TP NDUFA11 XK LRP4 MYL2 TCAP LRP12 MT-TT COL6A2 PNPLA2 B4GALT1 PPARG ACADM NDUFAF4 LAMB2 DES HNRNPA2B1 DNAJB6 CDON POMGNT1 CRYAB DOK7 TNNT2 PGAM2 ELN GABRD ACTC1 TPM1 MTAP EPG5 TPM2 TRMU CAV3 SDHB CSRP3 ACACA B3GALNT2 RERE DNM1L HNRNPDL TMEM43 ALG2 LDB3 TRIM32 COMP MYMK POLG ACTN2 FLAD1 NALCN TIA1 GTF2IRD1 AMPD1 ORAI1 CACNA1S EMD TBCE RFC2 XDH LAMA4 MAN2B1 TGIF1 GFPT1 ALDOA FKRP MYH6 TRIP4 GLI2 DSE MYOT ABCC9 UNC80 FGF8 MYH2 MT-ND4L DNM2 SKI MT-TV ERGIC1 LMOD3 SLC5A7 ACAD9 ABHD5 GYG1 COL9A1 SYNE2 MGME1 MT-CO2 MT-TH SLC22A5 KLHL9 HADHA GK MT-TE CHST14 INPP5K TKFC TNNC1 GFER PPCS AK9 ZIC2 SGCD FGFR1 SLC25A1 SCN5A CHKB UBA1 SLC25A4 AGK PRKAR1A COLQ PANK2 FKBP14 MT-TI ADSS1 PRKACA SGCG KBTBD13 HACD1 CAPN3 PRDM16 VMA21 RAPSN ALG14 PSEN1 TPI1 ALPL CENPF SUFU DPAGT1 NEBL ISCU ZBTB20 SAR1B CDH23 SGCB KLHL40 TDGF1 BAZ1B MYO9A DHX16 FOXH1 WFS1 NEXN RMND1 TANGO2 GIPC1 MTTP YARS2 SYNE1 MYH14 MYO18B PLOD1 RBM20 SVIL HP_DECREASED_MUSCLE_MASS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MUSCLE_MASS CHRNE VANGL1 ATP6V1A G6PC STRADA DSE COL12A1 CTBP1 PWRN1 FUCA1 TRIM2 SLC9A6 FGFRL1 ATP6V0A2 RUSC2 LETM1 MAP3K7 HERC2 PIEZO2 MKRN3 FSHB SNORD115-1 FBN1 RRM2B COLQ NDN PANK2 SMS PWAR1 FARSA TGFB3 CPLX1 TBC1D20 GYG1 LAS1L SPARC NSD2 HFE POLG PTEN AP4E1 ATP6V1E1 MAGEL2 CHST14 NPAP1 ECEL1 FUZ GFPT1 PLOD1 SNORD116-1 AKT1 SNRPN RAB18 HSD17B4 TYMP HP_RAGGED_RED_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAGGED_RED_MUSCLE_FIBERS MT-ND4 RRM2B MT-TS2 MT-CYB TWNK PABPN1 EARS2 MT-CO3 COQ2 ALG2 GMPPB BCS1L POLG CARS2 SLC25A4 MT-TL1 MT-ND1 MT-TF MYH7 MT-TQ MT-TL2 MT-TI MIEF2 DGUOK MT-ND2 MT-TW MT-CO1 ALG14 NEFH MT-ATP8 MT-TV MT-TH MT-ND6 MT-TK MT-RNR1 TYMP TK2 MT-TP GFPT1 MT-ND5 DPAGT1 MT-TC SPG7 MT-TN SLC25A26 AIFM1 CHCHD10 POLG2 MT-ATP6 MGME1 MT-CO2 SDHA TRMU MT-ND3 MT-TE HP_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOLYSIS CTDP1 SLC25A20 CPT2 XK HADHB GABRA3 PGK1 TRAPPC2L POLG ISCU BCS1L TSEN2 CLCNKB CACNA1S HADHA TSEN15 TSEN34 RYR1 TSEN54 DGUOK SLC25A42 PGAM2 LPIN1 ACADVL SLC12A3 ANO5 SEPSECS ATP5F1D PGM1 KCNJ18 AMPD1 PYGM TANGO2 TSFM FDX2 LDHA HP_SKELETAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_ATROPHY CD28 SQSTM1 VCP ABHD12 TRIP4 ERLIN1 PPARGC1A SUCLA2 CHRND COL6A1 BSCL2 SETX AP1S2 MAG SLC9A6 HNRNPA1 CCDC115 GYG1 TTPA FHL1 KY ATL1 BICD2 CPT1A FUS IFT27 LARGE1 GLB1 CTNS NDRG1 MCCC2 KANSL1 LITAF SLC33A1 SOX10 DGUOK CAPN1 NDUFA12 KIF1A COL12A1 PYCR2 PSMB8 ANO5 PFKM ALDH18A1 SPART NEB PTEN IFRD1 B4GALNT1 POMT1 CCT5 ATXN3 MYH7 AFG3L2 WARS2 TDP1 MSTO1 MPZ AGRN NEFL NEFH VPS13A GARS1 SYT2 LIMS2 DCAF8 MT-ATP8 TMEM43 GAN SACS SPEG TBCE HARS1 SURF1 PRUNE1 B3GALNT2 CHRNA1 PHKA2 COQ2 RYR1 SFXN4 CRPPA LMNA AR TNNT1 FXN TTN PRX DNAJB2 TRPV4 COL2A1 SCN4A TBK1 TRAPPC11 HSPB1 OPTN GNE MRE11 REEP1 SNAP25 CTLA4 MUSK AIFM1 CHRNB1 COL6A3 SDHAF1 UBQLN2 LAMP2 EGR2 WDR81 YARS1 SDHA CARS1 PHKG2 SYNE1 HINT1 FITM2 PMP22 POMT2 DOK7 ADSS1 C8orf37 SLC5A7 NBN PNKP NUP88 FIG4 CHAT SIGMAR1 DYSF C12orf65 SEPTIN9 CPLANE1 CAPN3 CHRNE COG7 RNASEH1 CCNF NARS2 DALRD3 PAX7 ATAD3A SGCA ATXN2 SIL1 CEP126 SH3TC2 PON2 YY1 NEMF TPM3 NOP56 GFPT1 SLC18A3 CHRNG ACTN2 WRN SBF2 VAMP1 KIF1C TARDBP DNMT3B KLHL41 POMK SELENON GDAP1 PDE8B HSPG2 PUS1 SMN1 LMNB2 IBA57 PEX7 COL13A1 AIP DCTN1 HMGA2 POLR3A ALS2 GBE1 C9orf72 COL4A1 MYBPC1 SPG11 TREM2 PDE11A FLNA ACTB FGD4 RTN2 GLE1 TRIM32 AMPD2 BBIP1 PEX10 LEMD3 VRK1 PLEC SLC46A1 HK1 PIK3R2 BBS9 EXOSC3 CYP7B1 TNFRSF1B IGHMBP2 SLC16A2 PLP1 FLVCR1 ZBTB20 YARS2 BIN1 LTBP4 DNM1L WASHC5 ABCA1 VAPB SGCG KLC2 LRP4 EXOSC8 TYMP LRP12 ACTA1 CHMP2B IFT172 ERCC8 COL6A2 ASAH1 DNA2 KLHL40 CPT1C ACADM ANTXR2 POMGNT1 LAMB2 CHN1 SMCHD1 HNRNPA2B1 TBC1D23 SLC25A21 ERBB4 NPHP1 SLC12A6 SLC39A13 SPRTN MYPN FAM111B DAG1 MTAP FKRP DUX4 SGCD ADARB1 TPM2 ZC4H2 SDHB ATP8A2 COG8 TTC8 PNPLA2 NAGA MECP2 GJB1 TPI1 TCF4 MORC2 MED25 COL7A1 FKTN NDUFS4 RRM2B RPS6KA3 PEX5 WDPCP HNRNPDL ERCC6 LZTFL1 MFN2 REV3L MYMK NIPA1 POLG UNC13A SOD1 CHCHD10 STAC3 GLT8D1 TK2 RXYLT1 RAI1 POLR2A TIA1 BBS1 HEXB TNXB ADK PIP5K1C B4GALT7 EPHA4 SLC52A3 FLRT1 BBS10 AMPD1 BMP1 PYGM DNM2 PNPLA6 SPAST DARS2 TBCK RBM28 DMD TGFB1 ARSI MGME1 NDUFA9 JPH1 FRG1 KIF5A NALCN PFN1 FBXO38 LMOD3 KDM5C C19orf12 PHGDH SPTBN4 MT-TL1 ANG USP8 ERLIN2 OPA1 MAFB MYOT PRPH WNK1 ASCC1 FAM126A NEK1 ENTPD1 NDUFAF6 AGTPBP1 DYNC1H1 PON3 ATP7A PTRH2 FARS2 MPV17 ERGIC1 EMD NEU1 INSR ATXN1 HSPB3 FLNC STIM1 TFG MTM1 MYOD1 SYNE2 BBS7 MYH3 LDB3 PGAP1 SCO2 INF2 SMN2 TAF15 DAO KLHL9 PLOD3 CD59 SUCLG1 KCNK9 AGL SGCB SCYL1 INPP5K HSPB8 ITGA7 ADSL COASY SLC7A7 AK9 PHKA1 MST1 SLC25A4 GMPPB ARL6 SLC25A1 BAG3 SDHD CNTNAP1 MAP3K20 MME UBA1 PRPS1 FBLN5 PDK3 PLEKHG5 PRKAR1A OGDH TBCD PYROXD1 CUL4B STUB1 CEP290 VLDLR MDH2 SCN9A ZFYVE26 NDE1 FKBP14 TOE1 RAB7A MKKS SVBP BBS5 PNPT1 PRKACA KBTBD13 PIEZO2 TUBB2B FBXL4 TTC19 VMA21 BBS4 RAPSN MATR3 VPS13D COLQ ANXA11 TCAP SALL4 GPR35 KIF1B SLC52A2 BBS12 DMPK PLXND1 SLC25A19 HUWE1 CAV3 CA8 KAT6A GBA2 ATM MKS1 APTX CFAP410 CHP1 LRSAM1 MTMR2 MYO9A DNAJC19 PHF6 PON1 NGLY1 ERBB3 SDCCAG8 RETREG1 SPTLC1 ACADSB COA7 STING1 BVES PHYH DHH GNAS POMGNT2 DHTKD1 MT-TE B4GAT1 DES PSAT1 AARS1 PEX6 BBS2 MYH14 HP_IMPAIRED_OXIDATIVE_BURST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OXIDATIVE_BURST CYBC1 CYBB RAC2 NCF2 NCF1 CYBA HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN8 CLN5 NDRG1 CLN6 TPP1 CLN3 KCTD7 DNAJC5 HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE CYBB NADK2 NCF2 NCF1 CYBA HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN5 CLN6 CLN3 KCTD7 DNAJC5 HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY MMADHC MMAB MMACHC PRDX1 MMAA HP_DICARBOXYLIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DICARBOXYLIC_ACIDURIA ETFA HMGCL SLC25A20 SUGCT MMAA LMBRD1 SUCLA2 ACADM MMADHC CPT2 SLC25A1 ACSF3 IDH2 GCDH MLYCD MCEE MMACHC ETHE1 DNAJC19 HADH TCN2 ABCD4 POLG ACADS HCFC1 DHTKD1 ACAD9 ETFDH MMAB CD320 ETFB SUCLG1 ACAD8 SCO1 L2HGDH ACADVL D2HGDH PRDX1 SLC52A1 MMUT HP_GENERALIZED_AMYLOID_DEPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYLOID_DEPOSITION CST3 FGA GSN LYZ B2M APOA1 HP_HYPERGLUTAMINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLUTAMINEMIA SLC7A7 ASS1 OTC ASL NAGS HP_OROTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROTICACIDURIA SLC7A7 SLC25A15 ASS1 ARG1 UMPS ASL HP_ETHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ETHYLMALONIC_ACIDURIA ETFB ETFA POLG ETFDH ACADS ETHE1 HP_ABNORMALITY_OF_CHROMOSOME_STABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY CDCA7 PALB2 TRAF7 TERT FANCI FANCE FANCA NF2 SMARCE1 COX4I1 RNF168 RMRP XRCC2 FANCF PDGFB BRCA1 BRCA2 ATM FANCD2 FANCC RAD51C TCN2 SLX4 FANCL FMR1 BRIP1 ZBTB24 FANCB NBN XRCC4 AKT1 PMVK FANCM UBE2T RFWD3 DNMT3B FANCG ERCC4 BAP1 MAD2L2 SUFU PIK3CA LIG4 RAD51 SMARCB1 RAD50 BLM HELLS SMO HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS FANCI FANCA PALB2 COX4I1 BRIP1 FANCC FANCF FANCD2 BRCA2 FANCE HP_DECREASED_METHYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLCOBALAMIN MTRR MTR MMADHC MTHFD1 LMBRD1 MMACHC PRDX1 ABCD4 HP_HYPERNATREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERNATREMIA DSG1 AQP2 SLC5A1 AVPR2 ARNT2 FGFR1 HP_DECREASED_HDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HDL_CHOLESTEROL_CONCENTRATION LCAT SLC7A7 ABCA1 SLC25A13 SMPD1 LMNA ALMS1 PSMB8 MTTP GALNT2 APOE APOA5 PPARG APOA1 CEP19 HP_DECREASED_PLASMA_CARNITINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PLASMA_CARNITINE ACAD9 HMGCL MMP1 ACADM GATM COL7A1 CPT2 NADK2 SLC22A5 ACAD8 SCO1 TRMU SLC34A1 NDUFAF6 DLD SLC25A20 MT-TE ACADVL HADH EHHADH CTNS HP_HYPERMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETHIONINEMIA FAH GNMT SLC25A13 ADK MAT1A AHCY CBS TTC37 HP_INCREASED_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGG_LEVEL FASLG STING1 IL7R PGM3 FAS PRKCD NCKAP1L IL2RG NLRP1 CCND1 CD247 PSMB8 RASGRP1 IFNGR1 CASP10 TGFB1 HP_EXTERNAL_GENITAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_GENITAL_HYPOPLASIA RNASEH2B WDR35 RHO KDM6A CLIP2 UBR1 CYP11A1 ANOS1 CDH11 RAC3 PROP1 POLA1 NANOS1 WNT5A HESX1 GNRH1 ATRX KIAA1109 EYS MAP3K7 LHX4 SIX3 SAMHD1 PHF8 KCNA1 XPC DDB2 RP2 RPGR CCDC22 PROKR2 PRPF4 PDE6B IFT27 THOC2 GMPPB MLXIPL LARGE1 TEX15 RSPO2 BBS4 ARX ARCN1 PIGQ SAG IL17RD SIK1 MAGEL2 ALX4 TBC1D20 FEZF1 HDAC8 IFT140 NRL SNRPN DISP1 ROBO1 SLC29A3 CDKN1C COX7B ATP6V1A GTF2I WDR11 DHCR7 SETBP1 NDUFB11 THOC6 RNU4ATAC C8orf37 WT1 NDN RIPK4 FGFR1 NODAL SEMA3E B3GALNT2 DMRT3 ARL2BP FRAS1 RP1 IRF6 ROR2 B3GLCT LHB TBL2 DHODH TP63 BRCC3 AHI1 XRCC2 FAM111A TSPYL1 POMGNT1 CLRN1 SLC25A22 GAS1 ALKBH8 SMC1A LMX1B CCNQ POR GATA4 CDC6 PHF6 DYNC2H1 TCF4 MNX1 HERC2 DYNC2I2 RAD51C FGF8 ACTB ORC1 POMT2 PWAR1 CDON VAC14 ERCC8 RAB18 RAB3GAP2 LIMK1 XRCC4 ZNF513 GRIA3 SALL1 PNPLA6 SCN1B PCARE POMT1 TDRD9 PTPN11 CDT1 DCAF17 UBE2A INTU RP9 GLI2 PROK2 BBS7 PTCH1 ARL6 MCM8 GMNN RNASEH2C FZD2 KISS1R FSCN2 NPAP1 DAZ4 CDKL5 MBD5 SEMA3A DVL3 SMC3 KIF7 SNORD116-1 IFIH1 MEGF8 CHRNG SHH CENPT HCCS SPRY4 USP7 NR5A1 MAMLD1 DCC POMK POLR1C EIF2S3 HSPG2 KIAA1549 SRY NEK2 SIN3A PMM2 BBS5 TACR3 SIX6 PIGA CERKL GBA2 COG5 RLIM IFT88 MKRN3 SNORD115-1 EED WNT7A MADD CDC45 EHMT1 COL4A1 GPC4 SMCHD1 RGR STT3A IMPDH1 IFT172 TRIM32 BBIP1 FANCM COLEC10 ZFPM2 ZEB2 DLL1 PHGDH SC5D PQBP1 SCN2A RPL10 TWIST2 CTCF RAB23 TTC8 BBS9 DHX37 B4GAT1 PSMD12 KCNAB2 TAC3 POLE MBTPS2 DMXL2 KATNIP FGF17 GRIP1 SMO LEP STXBP1 NR0B1 LZTFL1 VAMP7 GNRHR NSMF GNAO1 RAB3GAP1 SOX3 SOX9 SRA1 SOHLH1 MEIOB OCA2 HS6ST1 PAFAH1B1 USH2A SLC25A24 ALG12 RPE65 AGBL5 KAT6B KLHL40 ARHGEF18 AR DVL1 STT3B KMT2D DPM2 CDHR1 MED12 OPHN1 USP9Y DAZ1 BMP4 RNF113A SOX2 NECTIN1 ELN NPHP1 STAG1 GABRD FOXA2 CYP17A1 FREM2 PBX1 NEB IFT80 ZNF408 DAG1 PEX1 HGSNAT FKRP CUL7 NDNF SYCE1 ORC4 PHF21A RBP3 IGF2 CA4 ERCC4 TBL1XR1 YWHAE RAD21 ABCA4 PPP1R12A MAP3K1 RERE POC1A LMNA RSPO1 ALOX12B MTM1 FKTN SLC7A14 TBX3 GLI3 WDPCP PTDSS1 C2CD3 SNRNP200 TOPORS KIAA0586 MKS1 ZMYND15 ALMS1 DUSP6 SEMA4A B9D2 LHCGR IDH3A MAPRE2 CNGB1 RBMY1A1 SUZ12 POU1F1 AXL RXYLT1 SGPL1 CYB5A SRCAP DIS3L2 BBS1 PIEZO2 CYP11B1 BBS2 TSPY1 ACTA1 GTF2IRD1 BBS10 SCAPER DHDDS ARID1B TBCE PDE6A TRRAP RFC2 KIZ RP1L1 ANK1 LIG4 CRPPA TUBB TEX11 PNKP INPP5E GPC3 DYRK1A ERCC2 KLHL7 KDM5C TGIF1 ADAR ORC6 GPR161 KCNJ6 ERCC6 HSD3B2 LRAT SYCP3 WASHC5 CRX PRKDC SETD5 TMEM216 CHD7 SIM1 GHR DCX FANCL CDH2 LMOD3 FAT4 SKI MCTP2 PROM1 XPA EZH2 GAD1 OTX2 MYH3 SMAD4 NEUROD2 IMPG2 OFD1 NEK1 DDX3Y CTU2 KLHL10 INPP5K RYR1 AHR KLHL41 CCDC141 ECEL1 MAK DLK1 CHD4 FXR1 PDE6G CHRM3 PEX6 CRB1 CTDP1 FMR1 TAPT1 ZIC2 NIPBL ERCC3 SIL1 MYRF LSS UBA1 SPATA7 CUL4B PRPF3 PRCD NXN DNAJC19 PIGP ARNT2 FSHB RDH12 OGT TRIM8 PORCN DAZ2 CILK1 FBN1 CEP290 DDX6 ALOXE3 ERCC5 TULP1 SAMD9 DHX38 BUB1B LAS1L FIG4 SLC39A4 TOE1 TREX1 TAF4B CCDC28B MKKS SRD5A2 HERC1 FGFR2 MEG3 SDCCAG8 RLBP1 CNGA1 NR2E3 PRDM16 KMT2A RTL1 ZMPSTE24 EXT2 ADAT3 DYNC2I1 SUFU TCTN3 PRPH2 SATB2 BBS12 REEP6 HMGA2 PRRX1 ATAD3A ARL3 HOXA13 RNASEH2A HUWE1 GUCA1B IDH3B IER3IP1 DACT1 PWRN1 HOXD13 TUB SOX10 BEST1 PRPF31 FAM161A ISL1 ZBTB16 CASK DAZ3 PRPF6 TDGF1 MERTK TCOF1 BAZ1B FLRT3 ESR2 NSD1 FANCD2 ROM1 CEP41 PLAG1 CFTR FOXH1 PRPF8 POLR1D RTTN TEX14 LEPR POMGNT2 EBF3 DKC1 PSAT1 KLHL15 KISS1 WWOX UBE3B ECE1 HP_OVERGROWTH_OF_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA CDKN1C KCNQ1 KCNQ1OT1 FOS INSR CAVIN1 AGPAT2 PPARG IGF2 BSCL2 CAV1 HP_MALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_INFERTILITY NME8 DNAAF5 SPAG1 DNAH17 RPGR CFAP300 AMH CATSPER2 CYP19A1 DNAH5 NR5A1 CATSPER1 RSPH4A FANCA TTC12 MAP2K1 CCDC151 FCGR2A CCDC40 DNAH2 LHCGR HYDIN STRC RBMY1A1 DZIP1 M1AP CCDC114 CTNS CFAP65 DAZ2 LRRC56 PPP2R3C TSPY1 SPATA16 CCDC103 ZFPM2 ZMYND10 SRY CFAP221 CCNO DNAAF6 CFTR DNAI1 SPEF2 DHX37 CFAP298 LRRC6 AMHR2 DRC1 ARMC2 PMFBP1 STK36 RSPH9 NR0B1 NEK10 XRCC2 CCDC65 VAMP7 DNAAF4 DMRT3 DNAAF2 SUN5 WT1 RSPH1 GAS2L2 GAS8 SOX9 TTC25 GCM2 ARMC4 ADGRG2 DNAL1 GATA4 DNAH11 TGFB1 DNAH9 CFAP58 PTPN11 AURKC DAZ3 DNAJB13 BRAF DNAI2 USP9Y DAZ1 TEX11 DNAH8 GALT CEP112 DNAAF1 DNAH1 MCIDAS CFAP70 DDX3Y TTC29 MNS1 FOXJ1 OFD1 CCDC39 RSPH3 BLM DAZ4 MAP3K1 DNAAF3 WWOX HP_ABNORMALITY_OF_DNA_REPAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DNA_REPAIR ERCC6 GTF2H5 ERCC5 MPLKIP FANCC GTF2E2 FANCD2 FANCE ERCC3 RNF113A DDB2 ERCC2 FANCA XPA TARS1 XPC ERCC4 HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE FLNA FGG HMGCL MST1 PROC NPM1 F7 CD46 MGAT2 ZBTB16 RFT1 SLC25A15 MAP2K1 SPTB PROS1 GGCX VWF NABP1 PMM2 LARS1 F8 SRD5A3 BCS1L F11 STAT5B SPTA1 EPB42 HSD17B10 STAT3 GPC1 HADH SERPINC1 SLC30A10 ANO6 RYR1 F13A1 PRF1 PRKAR1A SERAC1 CFI ALG6 GNA14 GP1BA IKZF5 PML GP9 MPDU1 FGB AHCY OSTM1 SLC25A13 MPI BCOR SERPINE1 XIAP NR1H4 ALDOB ITGA2B F10 TBL1XR1 GFI1B HAVCR2 F12 AGA GPR35 F13B GP1BB NLRC4 F2 CFH SLC7A7 LYST ATP6V1A DDOST UNC13D F9 RARA NGLY1 TFAM ANK1 ATP6V0A2 RINT1 F5 CACNA1S FGA PTPN11 NUMA1 COG4 LMAN1 DPM2 SSR4 PET100 BRAF NBAS ACAD9 AKR1D1 FIP1L1 VKORC1 ITGB3 EFL1 PGM1 MCFD2 CYP7B1 DPAGT1 SLC4A1 STX11 ATP6V1E1 TRMU COG8 PLG MTTP AMACR HSD3B7 HELLPAR NBEAL2 TCF4 IRF2BP2 GNE DPM1 HP_INCREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGA_LEVEL FASLG IL7R IL12A NLRP1 IRF5 TNPO3 TNFSF15 WAS CD247 PSMB8 RASGRP1 OTULIN FAS MVK CASP10 PGM3 POU2AF1 STING1 SPIB PRKCD CCND1 MMEL1 IKBKG IL12RB1 HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY FAS FASLG COL4A5 ITCH CD247 COL4A6 CASP10 HP_NEONATAL_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPERBILIRUBINEMIA SPTA1 CPOX GYPC SPTB IGF1 SLC4A1 UGT1A1 PIEZO1 GPX1 FBP1 KCNN4 UBE2A PAFAH1B1 EPB41 HP_ABDOMINAL_DISTENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_DISTENTION WDR35 NKX2-5 IL12A SLC37A4 STX3 ARSA TPO DDRGK1 PYGL SPP1 IFT122 GNPTAB SPINT2 SPTB NKX2-1 SPTA1 EPB42 SPIB FLNA TSHR SLC26A2 TRIP11 ALG8 IYD CYP27B1 PRKCSH MMEL1 SLC26A4 ACTG2 POLG TG COL2A1 KRT18 PAX8 DUOX2 PSMB8 SLC5A1 ZEB2 SMPD1 SI POLG2 EPHB4 LHX4 LMOD1 MEG3 RET RTL1 ALDOB TTC7A NKX3-2 IL12RB1 PSAP DLL3 DYNC2I1 TYMP TSHB ITGB4 BMPER G6PC NPHS1 MYO5B COL11A1 SLC9A3 LIPA FLI1 SLC26A3 POU2AF1 SAR1B KAT6A HESX1 FREM2 DYNC2H1 ANK1 FOXE1 LHX3 SLC2A2 DYNC2I2 TCTN2 RRM2B INSR MTOR VDR DUOXA2 SEC63 KRT8 IRF5 TNPO3 TNFSF15 PTH1R HMBS IFT80 CYP2R1 POU1F1 MNX1 STAT4 SLC4A1 SMARCAL1 COL11A2 MYH11 MYLK GNE TRMU LRP5 EWSR1 BRCA1 IRAK1 IFT52 ITGA6 INPPL1 FSHR WT1 DLK1 SLC5A5 GBA MESP2 PROP1 HP_HIP_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_CONTRACTURE TNNT1 TELO2 UNC80 TPM3 MYL2 PIGY ITGA7 COL2A1 FKBP10 HSPG2 FBN2 LGI4 MYH3 ZBTB20 TTN KAT6B TRPV4 RNU4ATAC NSD1 SELENON F8 TPM2 MAP3K7 ACTA1 MMP2 NALCN MAP3K20 ESCO2 PTH1R RYR1 PNPT1 SLC26A2 SETD2 APC2 SLC6A9 ZC4H2 BICD2 SLC10A7 HACD1 ERLIN2 SPEG GARS1 GNPTAB BIN1 HP_NARROW_PELVIS_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PELVIS_BONE POR BMPER FGFR2 RSPRY1 BGN PTH1R PCNT IDUA HP_LOW_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ALKALINE_PHOSPHATASE PIGS BCR PIGK ALPL CEBPE PIGT SLC39A4 ABL1 HP_CYSTATHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTATHIONINEMIA LMBRD1 MMACHC MTHFR PRDX1 CTH HP_SPINA_BIFIDA_OCCULTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINA_BIFIDA_OCCULTA IRF6 CLIP2 RUNX2 TBL2 NSUN2 COLEC10 AMER1 PUF60 SOX4 HES7 FUZ MAFB RECQL4 NEK9 DPF2 EP300 MYH3 KCNH1 ARID2 SMARCE1 ZIC1 CCNQ COLEC11 ARID1B SMARCA4 CHN1 SALL4 CREBBP VANGL1 TBXT MESP2 MAP3K7 MASP1 ARID1A PORCN BMP2 LIG4 TNXB ACTB BAZ1B LIMK1 CCL2 POLA1 ELN SOX11 FLNA DACT1 TBC1D24 GTF2IRD1 GTF2I TBX6 VANGL2 CUL7 PTPN11 SMARCD1 SMARCC2 IKBKG CCBE1 RAB23 RAF1 RFC2 LFNG RIPPLY2 FIBP B3GLCT FLNB SMARCB1 BRAF RORA NOTCH2NLC CHRNG DLL3 HP_OVOID_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOID_VERTEBRAL_BODIES GALNS MIR140 IHH COMP B3GALT6 COL2A1 FBN1 GNS SBDS SLC35D1 TBX15 MATN3 HGSNAT PCYT1A GNPTAB POP1 SRP54 GLB1 ABCC9 LTBP3 DNAJC21 KCNJ8 SMARCAL1 FN1 NAGLU NPR2 ARSB SGSH UBE3B HP_IRREGULAR_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_VERTEBRAL_ENDPLATES COL10A1 KIF22 COMP B3GALT6 MMP13 SLC39A13 EIF2AK3 GNPAT COL9A1 GORAB PAPSS2 TCIRG1 COL11A1 TNFRSF11A ZBTB20 COL2A1 CHST3 SLC10A7 TRAPPC2 SLC29A3 LOXL3 POLR3A EXOC6B ACP5 COL9A2 PDE4D NANS RNU4ATAC COL9A3 HP_SPONDYLOLISTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLISTHESIS SMAD3 RUNX2 MAN2B1 IDUA MYH3 FBN1 KANSL1 TGFB2 PABPN1 ZNF469 CTSK AGA TGFBR2 COL2A1 BMP2 TGFB3 HP_SPONDYLOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLYSIS FLNB RUNX2 CTSK AGA FLNA HP_SPINAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_RIGIDITY MYBPC1 POMT2 VAMP1 KLHL41 TRIP4 COL6A2 SELENON ACTA1 SLC25A1 TMEM43 HSPG2 LMNA COL6A1 BAG3 FHL1 CAVIN1 ACVR1 SNAP25 COL13A1 NEB COL6A3 TPM2 CAPN3 PYROXD1 TPM3 TNPO3 LMOD3 SLC5A7 EMD POMT1 MYO9A COL12A1 MYH7 SYNE2 INPP5K MYPN CHAT MGME1 CFL2 AGRN TOR1AIP1 COL2A1 KBTBD13 DYSF ERLIN2 DES FKTN SYT2 SYNE1 ORAI1 KY SLC18A3 TTN HP_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLORDOSIS ACTA1 CLIP2 COLEC10 VCP FKRP FGFR3 XYLT1 DDRGK1 TMEM43 TONSL SMCHD1 RMRP PPP1R15B TRPV4 TPM3 ALG2 CAVIN1 COMP EXTL3 SELENON HNRNPH2 SCN4A ACP5 PIEZO2 TPM2 VPS33A KANSL1 MAP3K20 TRPS1 MATN3 B3GALT6 RAB3GAP2 NOTCH3 HACE1 GTF2IRD1 HSPG2 CLCF1 GTF2I TBX6 DYM COL1A2 MYH7 NAA10 COL2A1 GNPTG RFC2 MYPN FN1 FHL1 TGFB1 FUCA1 GARS1 FRG1 SPEG RAB3GAP1 BCR GFPT1 TBL2 FBN1 SLC26A2 PIK3CD DAG1 ITGA7 SHOX WNK1 GLB1 SOX5 TRAPPC11 MED12 SETD5 SON ACAN CCDC8 POMK CTSK FKTN IHH NF1 POMGNT1 DNM2 LMOD3 EMD POMT1 RYR1 OBSL1 PPM1D LIMK1 COL10A1 RET EXOC6B MMP13 SYNE2 INPP5K SGCA CFL2 SMARCAL1 MASP1 NEB NPR2 PCYT1A ECEL1 TOR1A VPS13B MYBPC1 ITCH POMT2 BCOR DNMT3B RSPRY1 FGFR2 TWIST1 TTN GMPPB CHST3 EIF2AK3 PLEKHG5 COL11A2 NSDHL COLQ ALX3 GALNS SCN9A CRKL MTMR14 BGN L1CAM PLEC HERC1 BICD2 CUL7 SGCG MAPK1 HACD1 CAPN3 ALG14 TFAP2A LMNA DNA2 BIN1 RERE KY HNRNPA1 SATB2 TRAPPC2 AMER1 PCGF2 CANT1 MYL2 DPAGT1 IARS2 COL6A2 COL12A1 COLEC11 FLNB BAZ1B NECTIN1 ELN LMX1B PIK3C2A HNRNPA2B1 SYT1 DUX4 ADAMTS10 POP1 RETREG1 KLHL41 LAMA2 MFN2 SLC10A7 DYSF DMD KNSTRN ZC4H2 SYNE1 CSGALNACT1 ARSB KIF1A HP_CERVICAL_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SUBLUXATION FLNB GALNS MADD IDUA MMP2 GLB1 RMRP COL2A1 DDR2 HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS GALNS IDUA DYM TRAPPC2 EIF2AK3 COL2A1 BGN FGD1 GNPTAB TRPV4 GLB1 COMP EXTL3 NFIX FN1 DKK1 AIFM1 RMRP LONP1 FLNB COG4 GUSB ARSB DLL3 RAB33B MESP2 HES7 DDR2 FLNA LFNG HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS GALNS IDUA DYM TRAPPC2 EIF2AK3 COL2A1 BGN FGD1 GNPTAB TRPV4 GLB1 COMP EXTL3 NFIX FN1 AIFM1 RMRP LONP1 FLNB COG4 GUSB ARSB RAB33B DDR2 LFNG HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES CLIP2 COMP COL2A1 MMP13 CDH11 HES7 ARMC9 STAG2 ATP7A XYLT1 DDRGK1 AGA RMRP HHAT FGFR3 WNT5A TENT5A SKI LOXL3 CCDC22 ACP5 B9D1 GLB1 SUMF1 B3GALT6 PLOD2 FGFR1 CPLX1 KIF22 OCRL GLI3 TBC1D24 TBX15 RPS19 GTF2I SF3B4 SPARC DYM NSD2 TNFRSF11A GPX4 COL10A1 TRPV4 KATNIP RNU4ATAC MBTPS2 KCNJ8 SEC23A KIAA0586 RAD21 FN1 COL1A1 FUCA1 PTCH2 UFSP2 SEMA3E KYNU ROR2 B3GLCT INPPL1 PDE4D MIR140 TBL2 DEAF1 FKBP10 NELFA ACAN COL1A2 FBN1 CCDC8 TBXAS1 COG4 IHH HAAO SFRP4 ORC1 SGSH GUSB LIMK1 WASHC5 P3H1 HSPG2 AHI1 DHX37 SMARCAL1 COL11A2 LBR ENPP1 NOTCH2 DHCR7 FZD2 ERF PCYT1A CEP104 FUZ CHRNG TBX6 PAPSS2 GNPTAB COL11A1 CSPP1 FGFR2 PMM2 HDAC6 SIX6 EIF2AK3 LETM1 AIP VANGL1 WNT7A TBXT MESP2 MADD TONSL TCTN1 CCL2 PTCH1 GLE1 B3GAT3 PEX7 SRP54 POLR3A RIPPLY2 EXOC6B LONP1 ZBTB20 LRP5 DLL3 NOTCH2NLC AKT1 IDUA TMEM237 TRAPPC2 CANT1 MAN2B1 TCIRG1 TRIP11 KDELR2 SLC25A24 OBSL1 ALG12 MAP3K7 NOTCH3 GJA1 CHN1 KMT2D LTBP3 GORAB PIBF1 PRKAR1A SOX2 ELN PUF60 FLNA SLC39A13 SLC35D1 CCN6 COG1 SC5D ANTXR1 CUL7 SEC24D SLC10A7 SLC29A3 AIFM1 ADA CSGALNACT1 RAB33B TMCO1 HSPA9 SBDS RPS6KA3 SERPINF1 FLNB PPP1R15B KDM6A SH3PXD2B SH2B1 EXTL3 APC PYCR1 FLII FOXF1 ASXL1 NANS INPP5E RAI1 GTF2IRD1 CFAP410 PLCB3 BMP1 PTEN DNAJC21 POR DMP1 RPL13 RFC2 SGMS2 DDR2 IDH1 SLC26A2 USP8 WNT1 RSPRY1 COL9A1 NEU1 MAFB VDR PPIB SMAD4 TMEM67 SOX5 TCTN2 CHD7 LRP4 SON SUFU ARL13B DVL3 ANKRD11 PTH1R ATRX RUNX2 NEPRO CHST3 IQSEC2 ACVR1 DVL1 TBX2 PLOD3 SMOC1 NAGLU CLCN7 MRPS28 NPR2 DLK1 HYLS1 CPLANE1 ALPL ITCH TAPT1 IFITM5 CEP41 SOST XYLT2 ABCC9 IFT43 TWIST1 MKS1 MMP2 NF1 PLEKHM1 JAG1 GALNS EBP BGN MYH3 CDK10 FANCB MEG3 PIEZO2 RTL1 CBS PAM16 CSF1R SALL4 COL9A3 MMP14 GNS GNPAT MATN3 NEK1 CTBP1 ARL3 FGFRL1 RINT1 FLI1 SERPINH1 CEP120 MPL BAZ1B IKBKG HGSNAT VANGL2 POP1 LFNG KLHL7 COL9A2 P4HB IDH2 ARSB UBE3B HP_BUTTERFLY_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUTTERFLY_VERTEBRAE SOX2 COG1 STAG2 TBX6 FOXF1 RIPPLY2 KMT2D SC5D HAAO CSGALNACT1 SOX5 ALG12 SIX6 KDM6A HP_ABNORMALITY_OF_THE_CERVICAL_SPINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE MEOX1 PIGW UNC80 PUF60 CDH11 HES7 PROP1 SMPD4 XYLT1 DDRGK1 WNT5A FBN2 TBX1 ATRX PRMT7 SF3B4 SCYL2 RMRP RB1 FANCI TSR2 IGBP1 TRMT10A GDF6 CCDC22 MED13L TUBB PIEZO2 CHRND IFT27 GMPPB IDS POGZ B3GALT6 COL12A1 FAM20C HDAC8 SEC24C RPS19 DYM SETBP1 ADA2 HBA2 TNNI2 COL2A1 GNPTG RNU4ATAC KCNJ8 FHL1 GNAS FUCA1 EP300 BPTF B3GLCT INPPL1 PALB2 BRF1 MIR140 SRCAP LHX4 OTUD6B TBR1 SHOX ALG9 BMPER CHRNA1 MAN1B1 PSAT1 CEP55 GLB1 GP1BB SMC1A LMX1B MUSK ACAN PPP1R15B TCF4 GPX4 CCDC8 CREBBP ERCC5 ATP6V1B2 GPC6 BRAF ACTB HRAS OBSL1 C8orf37 GUSB C2CD3 SLC26A2 NBN TRPV4 MYH3 MSL3 PTPN11 INTU CBL FTO COG7 GLI2 DHX37 SMARCAL1 SOX9 NOTCH2 DHCR7 FZD2 RPS15A HPDL DVL3 SMC3 SEMA5A KIFBP TBX6 RFT1 KIF7 HSPG2 MAP2K1 PGAP2 PIGA SPRED1 TGDS COMT COG5 GPKOW POMT1 ALG8 WNT7A MESP2 MADD COL6A3 RPL11 UBE2A GPC4 CD96 LARGE1 CTDP1 TECPR2 GLE1 TRIM32 PKDCC ACTG1 ERMARD BBIP1 B3GAT3 PSMD12 SOS1 KCNN3 RAB23 RIT1 BBS9 RPS10 KCNH1 POLR3A POLE RIPPLY2 HBA1 EXOC6B STXBP1 EFNB1 DLL3 HESX1 IDUA TRAPPC2 SLC2A1 AMMECR1 CANT1 POMT2 TRAPPC9 PIGY FGD1 IFT172 PAFAH1B1 COL6A2 RPS24 RDH11 TAF1 DVL1 RPS28 NOTCH3 CHN1 FLNB RPL18 BMP4 TGFB3 LHX3 NPHP1 GATA4 NF1 FOXA2 SLC35D1 MRPL12 COG1 CUL7 RPL5 WDR35 AIFM1 CCN6 TBL1XR1 TTC8 YWHAE PTCH1 RAD21 EXOSC9 FGFR1 RAB33B FKRP TMCO1 HSPA9 APC CTNND2 PGAP3 WDPCP MGAT2 LZTFL1 AEBP1 KIAA0586 MKS1 COMP EXTL3 NALCN PIGN UFD1 MAPRE2 ROBO3 MAPK1 VPS33A NANS POU1F1 RAF1 BBS1 NUP188 MEGF8 BBS10 DONSON NEK9 RREB1 ESCO2 COL11A2 RPL35 RPL15 TBCK RPL31 HIRA GPC3 DDR2 DYRK1A MAN2B1 PGAP1 ALDOA SNRPN LIFR RSPRY1 MAFB DSE WASHC5 COL11A1 SMAD4 MED12 GATA1 SETD5 RPL26 TPM2 AP5Z1 FANCL MMP2 LMOD3 NUP88 EMD PIGV SMAD3 PIGL SHOC2 BBS7 CHRNG CHST3 MECP2 FGFR2 CFL2 PHGDH TBX2 OFD1 GZF1 ROR2 NLRP1 ANKRD11 MRPS28 CHST14 KIF22 JMJD1C ECEL1 DLK1 MAP2K2 RPL27 TAPT1 INTS1 TBX15 ARL6 NIPBL CRLF1 XYLT2 GDF3 ABCC9 NBAS UBA1 CUL4B LZTR1 FGFR3 KRAS STX16 NXN NEB RPS17 TRIP11 CEP290 GALNS CDK5 BUB1B EBP BGN SKI DCC SOS2 MKKS ERCC6 ZC4H2 BBS5 RPL35A MEG3 RPS7 KMT2A BBS4 RTL1 TFAP2A PAM16 SALL4 PPP1CB NKX3-2 ADAT3 SATB2 BBS12 GNS ARVCF DOK7 FLI1 RPS26 HDAC4 TCTN2 TOR1A COL6A1 ACTA1 RPS29 MPL TALDO1 PIGO ANTXR2 SDCCAG8 POP1 KLHL41 WAC ERCC2 LFNG RPS27 TNNT3 OTX2 MYO18B ERCC1 BBS2 WNT4 HP_C1_C2_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_C1_C2_SUBLUXATION MADD IDUA MMP2 COL2A1 DDR2 HP_PROGRESSIVE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MUSCLE_WEAKNESS TNNT1 PEX12 PLEC POLG2 TWNK MYOT POLG PEX19 MT-TN TK2 COQ2 TTN NEB PEX3 PEX5 PEX13 PEX26 DMD VAPB ACTA1 PHKG2 MT-TL1 CRYAB RYR1 COL12A1 MT-TL2 PEX6 ABHD5 ANO5 PEX1 COL6A3 MIEF2 LDB3 PUS1 PCNA PYGM PEX10 PRPS1 DES TBCK TRAPPC11 PEX16 PNPLA2 YARS2 SIL1 MYH7 MT-TE DYSF SPEG PEX2 COL6A2 PEX14 TPI1 PHKA2 LTBP4 COL6A1 PEX11B BIN1 HP_GENERALIZED_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_MUSCLE_WEAKNESS ACTA1 VAMP1 POMT2 VAPB KLHL41 SELENON SLC25A1 PPARGC1A SDHD CAVIN1 SLC2A3 KCNJ1 COL13A1 UNC13A SOD1 SLC25A4 CCND1 FGF23 CHCHD10 HADHA GLT8D1 COL6A3 COLQ MAP3K20 MYH7 TREM2 POLG FXYD2 COL12A1 PRPH MYL1 PNKD TPM3 EPHA4 AIFM1 PLEC PRRT2 POMT1 DSE HACD1 CLCNKB C9orf72 TBK1 GLE1 MATR3 NEB RYR1 SYT2 FUS MEN1 VCP PFN1 ANXA11 CNNM2 AARS2 CHRNA1 CRPPA LMOD3 HTT MYL2 HADHB ITGA7 SLC12A1 CHMP2B TTN TK2 EGF COL6A2 NEK1 CHRND PIGN OPTN ATP13A2 SNAP25 MYH2 LAMB2 SDHAF1 UBQLN2 CAPN3 PON3 RANBP2 SDHA ATXN2 COL6A1 DNAJB6 CFAP410 GAA FKTN SLC5A7 TARDBP ERBB4 ACAD9 MYO9A MTM1 FIG4 ACY1 PON1 CHAT NEFH FKRP LDB3 TPM2 HNRNPA1 AGRN TAF15 DAO CCNF ABCB6 SDHB DCTN1 SQSTM1 PLA2G6 PON2 ORAI1 COA8 MORC2 PLOD1 ANG SLC18A3 SLC12A3 POMGNT1 HP_LIMB_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS AK9 MUSK VAMP1 CHRNA1 VCP FKRP HNRNPDL SLC25A1 CHRND ALG2 GYG1 GMPPB COL13A1 NEB POMT1 RRM2B PSAP CHRNB1 TNPO3 LARGE1 CRYAB TWNK DAG1 DGUOK TRIM32 MYH7 COL6A2 AGRN RAPSN ALG14 SMCHD1 MATR3 SYT2 BICD2 DNA2 DYSF LMNA FRG1 POLG GFPT1 PLEC DMPK LRP4 POMT2 COL6A3 DPAGT1 CHRNE SCN4A DPM3 GNE SNAP25 SGCB TPM2 RYR1 ACTA1 LMOD3 SLC5A7 POLG2 DOK7 MYO9A ABHD5 ANO5 CHAT MTAP LDB3 CFL2 KLHL41 FLNC TTN BVES MYOT SGCA PNPLA2 DNAJB6 MT-TE CRPPA GALC COL6A1 MORC2 SLC18A3 SLC25A4 HP_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYALGIA DNM1L CPT2 TBX1 SCN4A ALMS1 CAVIN1 VCP DNAL4 MTMR14 SPTA1 EPB42 UFD1 SCN9A PDGFRA MYH7 STAT4 DGUOK LPIN1 DCC SEC24C MT-TK IL23R PTPN22 OTULIN IL10 TRIM32 FAS MT-TE AMPD1 POMT1 DSE PYGM RREB1 NTN1 MYF6 MSTO1 CNBP RYR1 HPDL IL12B PRDM5 DMD RNASEH1 HIRA TNFRSF1A CCDC78 PHKA2 NLRP3 RBCK1 NLRC4 FDX2 CRPPA LPIN2 POLG2 ANO5 HADHB AMPD3 TWNK TK2 GP1BB TRAPPC11 CLCNKB TMEM126B UBAC2 NLRP12 PHKG2 CASQ1 TNXB ACAD9 STIM1 DNASE1L3 DNM2 FKRP IL12A ZNF469 MEFV HADHA BIN1 IL12A-AS1 LMNA CTNNB1 CLCN1 C4A MVK JMJD1C LDHA PHKA1 MLX COX6B1 SLC25A4 LBR HSPG2 PGK1 SPTB COMT RRM2B CCR1 MT-TL1 MIEF2 GLA LEMD3 PRTN3 CAPN3 ORAI1 POLR3A DNA2 DYSF FMR1 MYOT MDM4 MATR3 POLG DMPK ERAP1 TLR4 CAV3 RAD51 ARVCF PNPLA2 HLA-DPA1 PPARG ANK1 ACADM DOLK ACP5 ADA2 APC FKTN CTLA4 OPA1 NOD2 PGAM2 HLA-B ENO3 KLRC4 SLC12A3 HLA-DPB1 FLNC SLC4A1 STING1 BVES MTTP ACADVL SVIL HP_AXIAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_MUSCLE_WEAKNESS MYBPC1 RYR1 MYH7 ACTA1 POMT2 NEB SELENON CFL2 MT-TN KLHL41 BICD2 KLHL40 DES SPEG LAMB2 TPM2 POMT1 LMNA GMPPB BIN1 COLQ MT-TL1 LMOD3 LARGE1 FKRP CRYAB MT-TL2 TTN HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION PEX6 GTF2H5 RNF113A NECTIN1 CDH3 TP63 TGM3 MPLKIP ASL KRT85 GTF2E2 LMNA ERCC3 PEX1 ST14 GAN PADI3 TTC37 TARS1 KRT25 BCS1L SPINK5 NECTIN4 DSG4 HEPHL1 HR ERCC2 SKIV2L TCHH WRN HP_ABNORMAL_BONE_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BONE_STRUCTURE TP53 WDR35 CLIP2 LRP5 COMP NFIX CYP11A1 ANOS1 UNC80 PDLIM4 CDKN1A FSHR MC4R CTNS XYLT1 AGA TNFRSF11B LARS2 IFT122 RMRP HLA-DRB1 BRCA1 PEX12 ATP7B MGP BTNL2 RTEL1 PROKR2 ACP5 ENPP1 HNF4A PEX6 NR5A1 IL17RD MAGEL2 B3GALT6 KIF22 FAM20C GLI3 SNRPN SLC29A3 TINF2 NSD2 DHCR7 CBS NSDHL FANCM ANTXR2 SLC26A2 MBTPS2 KCNJ8 SEC23A KIAA0586 NDN ABCC6 BSCL2 COL1A1 STAT3 UFSP2 PHKA2 KCNH1 INPPL1 PDE4D TBL2 LHX4 FBN1 MAP11 PROP1 FAM111A GPC3 PEX5 G6PC PEX26 ZMPSTE24 FKBP10 GLB1 PEX16 XRCC2 WDR11 POU2AF1 NELFA HESX1 MEN1 SLC34A1 COL1A2 HERC2 GGCX MAP2K1 TBXAS1 DYNC2I2 NHP2 AKT1 LAMC2 IHH NF1 HBG2 FGF8 ORC1 IDH2 POLG2 VAC14 GUSB ERCC8 LIMK1 WNT1 P3H1 HGD GPAA1 CLCN7 GLI2 PROK2 EXT2 ALPL LBR SMS KISS1R NPAP1 SNX10 RAD51 POF1B DKC1 SNORD116-1 TNFSF11 SEMA5A WRN PLOD2 TRPV6 PSMC3IP DCC PDE8B TYROBP HSPG2 NT5E SEMA3A CDC73 FANCD2 FGF23 HMGA2 FUT8 MKRN3 SNORD115-1 WNT7A ANAPC1 TONSL EPHX1 PDE11A POLD1 GNA11 CTDP1 DYM SLC9A3R1 GLIS3 PSAP BUB3 RUNX2 EIF2AK3 GLA PTH1R ZFPM2 WDR19 HECW2 HPGD RPL10 PEX10 FERMT3 TNFRSF11A PEX2 CTSC ZBTB20 DCAF17 ERCC2 SLC34A3 IQCB1 AIFM1 NR0B1 NOTCH3 TACR3 IL12RB1 GNAS CENPJ SIK3 GTF2H5 CANT1 WNT3 RPL11 TCIRG1 GATM COL7A1 TRIP11 OCA2 MBTPS1 AEBP1 KDELR2 TRPS1 BMPER FGF17 ATP7A TAF1 LRP4 ANO5 RB1 GJA1 FANCC SLC4A1 TRPV4 HSD17B4 B4GALT7 RUNX1 GEMIN4 GJB6 IDH1 SDHB VDR ELN FOS PDGFRB LIFR TNPO3 FLNA TAF13 SLC39A13 TMEM38B IFT80 NOP10 MTAP DDRGK1 OCRL SC5D ANTXR1 HNRNPK DCHS1 SCARB2 SLC35D1 MAD2L2 SDCCAG8 CCN6 ANKH AGPS KNSTRN LMNA DLL4 ASXL2 PYCR1 MAP3K1 PEX11B SRP54 SMPD1 SBDS NUP107 ATP6V0A4 COL2A1 RNF113A PTDSS1 FGFR1 HBG1 CAVIN1 PIGV CD96 STAT1 MAFB HBB USP9X CASR KIF1A PIGL FLNB VPS53 CYP27B1 CDH23 SLX4 AMER1 SEC23B TERT FEZF1 LEMD3 HAMP GTF2IRD1 DNAJC21 BMP1 IKBKG DMP1 SRSF2 KLLN RFC2 PALB2 TGFB1 XYLT2 TGFBR2 HRAS PRKAR1A ESR1 LPIN2 PMM2 WT1 ORC6 KNL1 PIK3CD CDKN1B HSD3B2 USP8 ASXL1 SASS6 ALG9 WNK1 PPIB ERCC6 NLRP3 TBCE SDHD NDUFAF6 SUFU PEX1 NAGA EXOC6B SMAD3 TNFSF15 FANCE CHST3 CCR6 ACVR1 ZNF469 GZF1 SATB2 GCM2 GK NAGLU HS6ST1 PLEKHM1 CBL HSD3B7 PTCH2 STN1 CRTAP ATL3 LRP6 SLC7A7 IL12A WDR62 GALNT3 CYP19A1 RSPRY1 LAMB3 NRAS STX16 CYP17A1 CDKN2C EXTL3 MMP2 USB1 SCN9A STIL EBP SH3BP2 METTL5 ANKLE2 SOST ARL6IP6 POR DLX3 EHHADH FGFR2 LONP1 CEP57 SLC39A8 CSF1R MTX2 SDHC AGPAT2 TARS1 CTSK NKX3-2 FANCF SQSTM1 PEX19 CIT MMP14 GNPAT HOXA13 EFL1 CHD7 GATA1 IER3IP1 IFT52 AIP SOX10 RNU4ATAC SLC39A14 SLCO2A1 SERPINH1 AVP ABCC9 CSPP1 BAZ1B ESR2 FANCL NGLY1 SH3PXD2B POLR1D CDK5RAP2 CA2 GNRH1 PIGU FKBP14 RIN2 AR PSAT1 PHEX PLOD1 KISS1 SLC25A4 SALL4 HHAT PPARG BUB1B GFI1 NPHP1 FBN2 FARSB TRAF3IP1 KCNJ1 TENT5A SKI CEP152 MFSD2A MLXIPL HFE CYP11B1 COPB2 PRKACA ALX4 CYP2R1 CPLX1 ADAMTS2 GTF2I SPARC SETBP1 USF3 RSPO2 MATN3 COX4I2 RETREG1 DUSP6 NPR2 SMARCD2 SEMA3E SLC17A5 VCP CREB3L1 DMRT3 ARMC5 MIR140 IGF1 DDR2 PEX13 GATA4 DYNC2H1 GPX4 KLF1 MITF COL3A1 PHKG2 SFRP4 DHCR24 PWAR1 AGXT SGSH FAH MPLKIP MCPH1 CEP290 BRAF GJB2 INTU TRMT10A ADAMTSL2 SMARCAL1 CTC1 SOX9 PEX3 NOTCH2 COL5A1 CRIPT CALCR PEX14 PLS3 CHRNG RECQL4 SPRY4 POLR1C GBA PTEN GNPTAB TERC HDAC6 PLEC PRDM5 LETM1 FAT4 SPIB KL NDUFAF1 ALDH18A1 PYCR2 IFIH1 PHC1 MTRR ASPM MMEL1 OFD1 TWNK GLE1 P4HB CDKN2B B3GAT3 AKR1D1 PEPD PEX7 TREM2 OSTM1 CTCF DHX37 POLR3A TAC3 POLE PTCH1 ERCC4 TJP2 HNRNPA1 VAMP7 GNRHR NSMF SETD2 NPM1 PIGY DDOST SLC12A1 INVS IL1RN FLRT3 SLC35A2 PERP MAN2B1 DPM2 SRC COL9A3 GORAB GALT IRF5 FOXA2 CLCN5 MMP1 CCN2 BAAT TRIP13 SLC25A19 COG1 LAMA3 GDF5 SEC24D NDNF UBE2T PHF21A SLC10A7 ELANE PIGT SP7 HJV PISD TCF4 BNC1 TMEM165 SLC37A4 CTNND2 MGAT2 ARSL ATP6V0A2 ELMO2 ITGB4 COL5A2 CCND1 DKK1 ELP1 POU1F1 PIK3CA TRPV3 BUB1 EXT1 FANCB STAT6 GTF2E2 PLCB3 CAV1 SGMS2 TBCK TET2 CYP27A1 POLR3H GSC SPIDR ALB ASAH1 PHGDH FANCI GPC4 CEP164 SIM1 RAD51C CYB5A KRAS NEU1 SLC2A2 COL10A1 MMP13 UROS ADCY10 PLOD3 WRAP53 CTNNB1 PCCA NPHP3 IRX5 CCDC141 DLK1 CEP135 MST1 TAPT1 IFITM5 CEP63 ERCC3 PYGL NCAPD3 RRM2B VPS35L RNF125 BRIP1 EED GALNS KIF14 IFT43 SAMD9 FIG4 BGN CDK6 SRY THRB MEG3 PARN BMP2 RTL1 PRLR SLC25A24 TMEM67 GPR35 MDM4 BANF1 DYNC2I1 POLG RAB3GAP1 IARS2 CTBP1 SNRPB CYP3A4 BRCA2 PWRN1 BMP15 FGFRL1 NPHP4 MAP3K7 WNT3A APC MPL SOX3 BMS1 TCOF1 MALT1 HNRNPA2B1 HGSNAT ADAMTS10 MRPS22 RFWD3 FANCG NAB2 FANCA CHEK2 BMPR1B PORCN MTTP OTX2 AP2S1 PCCB WWOX LFNG HP_ABNORMAL_ENCHONDRAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION ALPL COMP WDR35 PEX11B FLNA SBDS PEX6 COL2A1 CYP19A1 PEX12 XYLT1 DDRGK1 TONSL HSPG2 ARSL RMRP LBR PIGV CHST3 CD96 MGP LETM1 EXTL3 PEX19 FLNB TRIP11 CYP27B1 VPS35L CYP2R1 CPLX1 DYM KIF22 PEX2 PEX10 ENPP1 RUNX2 EIF2AK3 EBP FIG4 BGN PTH1R SLC26A2 PEX7 NSD2 DHCR7 NSDHL SRP54 THRB RSPO2 DNAJC21 MEG3 MATN3 KIAA0586 FGFR2 RTL1 LONP1 PEX16 PTCH1 UFSP2 SLC34A3 GSC PEX1 NKX3-2 KCNH1 DYNC2I1 PRKAR1A DDR2 ESR1 SETD2 INPPL1 PDE4D MIR140 ORC6 B3GALT6 CANT1 BMPER WNT3 GPC3 PEX5 HOXA13 PEX26 GPC4 MBTPS1 CTBP1 SNRPB ABCC6 PEX13 RNU4ATAC DYNC2H1 SOX9 FGFRL1 SUFU GPX4 GGCX DYNC2I2 CTSK TRPV4 IHH ORC1 COL9A3 NEU1 CSPP1 VAC14 GUSB VDR COL10A1 CLCN5 SLC35D1 IFT80 GDF5 SLC10A7 BMPR1B NFIX PEX3 AGPS PISD PTCH2 DLK1 PEX14 LFNG HP_JUNCTIONAL_SPLIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUNCTIONAL_SPLIT ITGA6 COL7A1 LAMA3 ITGB4 LAMC2 PLEC LAMB3 HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ ZAP70 JAK3 IL2RG MYD88 KLHDC8B RMRP HP_DECREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_RENIN_LEVEL CYP17A1 CYP11B1 KCNJ5 HSD11B2 NR3C2 AVPR2 SCNN1B SCNN1G CACNA1D HP_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMINOACIDURIA SLC7A7 ETFA GCLC GATM PLOD2 NAGA CTNS GUCY2D ERCC3 PEX5 SUCLA2 ACADM TNFRSF11B GCSH SURF1 SLC3A1 MOCS1 SLC6A19 BCS1L SPINK5 ATP7B CTH HAL XPC DDB2 GPHN ALDH4A1 MTHFR FAH CYP27B1 MCCC2 SARDH PREPL DHTKD1 ASL DGUOK ERCC5 ETFDH OCRL GALE OTC HIBCH AMT ETFB MARS1 OPLAH GRHPR LMBRD1 PPM1B MOCS2 HNF4A SLC36A2 MTR EHHADH GLYCTK NEU1 CBS SLC35A1 TNFRSF11A SLC6A20 PEX1 GALT CLCN5 SLC19A2 GSS OAT FH MTRR ERCC2 MMADHC ARG1 CAMKMT NGLY1 FTCD SLC34A1 NDUFAF6 MMACHC SLC7A9 SLC2A2 MT-TN PRODH ALDH5A1 ABCD4 PET100 HCFC1 FARS2 XPA GEMIN4 CPS1 TRNT1 HGD CYP2R1 KYNU SLC6A18 CASR ALDOB ERCC4 PCCA ASPA GLDC TK2 PCCB DMGDH IVD COA8 UMPS PRDX1 RRM2B SLC1A1 HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION APOA5 LPL LDLRAP1 UBR1 LCAT HP_ARTHRALGIA_OF_THE_HIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRALGIA_OF_THE_HIP MATN3 COMP COL2A1 COL9A2 COL9A1 COL9A3 HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY HSPA9 LRP5 EXT2 COMP COL2A1 SBDS MMP13 SOX4 SERPINF1 PEX5 MGAT2 ATP7A XYLT1 DDRGK1 TONSL WNT5A ARID2 ATP6V0A2 CTC1 ARID1B NANS UFSP2 ARCN1 TRPS1 B3GALT6 MMP9 KIF22 COL11A1 GLI3 MEGF8 CFAP410 HSPG2 COL9A2 RNU4ATAC COL10A1 COL9A3 DNAJC21 GNPTG MATN3 KCNJ8 KIAA0586 DMP1 RPL13 FN1 PRG4 TGFB1 FUCA1 EP300 RPS6KA3 EZH2 IFT140 MAN2B1 BCR MIR140 ORC6 FKBP10 RSPRY1 SHOX GLB1 ERCC6 NGLY1 SMARCE1 LMX1B TRPV4 SMARCA4 COG1 CREBBP COG4 IHH DVL3 SLC2A10 ORC1 SRP54 RET COL9A1 ATRX FLNB CCDC47 ACVR1 DVL1 ADAMTSL2 SMARCAL1 PLOD3 LBR ENPP1 FZD2 INPP5K SIL1 CRTAP DLK1 CHD4 BMPR1B ADAMTS2 FLNA PCNT PCYT1A DPF2 ABCC9 RBM8A CHST3 EIF2AK3 IFIH1 EXTL3 COG8 PDE4D EED GALNS DYM SOX11 CRKL RUNX2 BGN TREX1 SMARCD1 ACAN CANT1 MEG3 RAB23 MAPK1 RTL1 ZMPSTE24 EXOC6B STXBP1 MTX2 TMEM67 NKX3-2 GTF2E2 IDUA EXT1 TRAPPC2 SLC12A2 COL1A2 KDELR2 TCIRG1 EFL1 SLC35A2 RINT1 CDC6 FGFR3 ARID1A B4GALT7 CSPP1 TGFB3 NFIX TRIP11 PIK3C2A SLC39A13 POP1 SMARCC2 SLC10A7 COL11A2 AIFM1 CCN6 COL1A1 SLC26A2 IFNGR1 SMARCB1 TBX4 CSGALNACT1 TRAF3IP1 RAB33B POC1A LMNA HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY COMP IDUA HSPA9 EXT1 SBDS COL2A1 COL1A2 DYM RSPRY1 ATP7A PCNT TONSL TRPS1 SIL1 EP300 MATN3 EFL1 WNT5A COL9A1 CHST3 RNU4ATAC TRAPPC2 TRPV4 RINT1 EXTL3 CDC6 CREBBP IHH DVL3 UFSP2 SLC2A10 CSPP1 SRP54 B3GALT6 KIF22 RET PIK3C2A SLC39A13 POP1 TREX1 DVL1 COL10A1 ACAN DNAJC21 ADAMTSL2 GNPTG SMARCAL1 KIAA0586 PLOD3 COL11A2 AIFM1 CCN6 COL1A1 SLC26A2 FZD2 IFNGR1 INPP5K MTX2 TBX4 TRAF3IP1 RAB33B IFT140 ADAMTS2 HP_FLAT_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_CAPITAL_FEMORAL_EPIPHYSIS GNPTG KIF22 COL2A1 SLC39A13 SLC26A2 COL9A1 TONSL TRPS1 TBX4 UFSP2 ACAN HP_STEPPAGE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEPPAGE_GAIT MARS1 EGR2 MPZ SBF2 PMP22 TDP1 LMNA MFN2 GDAP1 HSPB1 GNB4 SQSTM1 FHL1 KARS1 GNE POLG C12orf65 PDK3 PMP2 COX6A1 HINT1 LRSAM1 IGHMBP2 ADSS1 TIA1 HARS1 HSPB3 RAB7A NEFL SCO2 MYH7 COA7 INF2 TTN KLHL9 DHH MTTP DCAF8 SLC25A46 SLC30A10 GAN ATP1A1 PRX KIF1B CLIC2 HP_AXONAL_DEGENERATION_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION_REGENERATION RAB7A MPZ GDAP1 SLC12A6 LRSAM1 KIF1B MFN2 LMNA HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS MPZ SBF2 SPG11 PMP22 GDAP1 PRX LMNA WNK1 MME TRIM2 KIF1A APTX RRM2B KLC2 GJB1 RAI1 FGD4 ELP1 TFG EGR2 NTRK1 RETREG1 DHH RAB7A FLRT1 C12orf65 PLEKHG5 SPTLC1 POLG DNM2 DNMT1 NEFL VPS13A JPH1 GAN SACS SH3TC2 HSPB8 SCN9A NGF MPV17 KIF1B MFN2 HK1 TYMP HP_HYPERTROPHIC_NERVE_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_NERVE_CHANGES MPZ PMP22 PRX LITAF EGR2 GDAP1 HP_ONION_BULB_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONION_BULB_FORMATION MPZ SBF2 PMP22 FGD4 SLC12A6 EGR2 PRX SBF1 LMNA GDAP1 ARHGEF10 FAM126A DNM2 GNB4 INF2 PRPS1 C12orf65 PMP2 NEFL DCAF8 FIG4 COX6A1 SACS SH3TC2 NDRG1 LITAF GJB1 KIF1B MFN2 HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS MME ELP1 PRX APTX SACS RRM2B SH3TC2 PLEKHG5 HSPB8 GDAP1 SPTLC1 POLG HK1 TYMP HP_EASY_FATIGABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EASY_FATIGABILITY AK9 CHRNE MUSK VAMP1 CHRNA1 TET2 SLC25A1 CHRND BAG3 TPM3 SDHD ALG2 GMPPB MAP3K20 DNAL4 COL13A1 HNRNPK RRM2B PYROXD1 RYR1 CDH23 TPM2 COLQ CHRNB1 TWNK DCC FKBP14 MTMR14 TDP2 AGRN NTN1 SYT2 MYPN CALR RAPSN ALG14 MGME1 JAK2 SURF1 TYMP POLG GFPT1 LRP4 DPAGT1 SCN4A RAD51 PNPLA2 AIP MEN1 SNAP25 TMEM126B LAMB2 SDHAF1 AGK PRKAR1A GTPBP3 SDHA DNM2 SLC5A7 POLG2 POMT1 DOK7 MYO9A STIM1 CHAT MPL TGFB1 SDHB CASQ1 SLC18A3 SLC25A4 HP_SENSORY_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_AXONAL_NEUROPATHY DGUOK ACOX1 TK2 FGF14 VCP HNRNPA2B1 PIEZO2 KLC2 FXN CCT5 DHX16 POLG TWNK CAPN1 XRCC4 AIFM1 MFN2 CTSD PRICKLE1 GJC2 NEFH PLEKHG4 GAN SYNE1 ATP13A2 HINT1 ATL3 PLD3 HNRNPA1 MORC2 COX20 SHMT2 HP_GOWERS_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOWERS_SIGN CHRNE GFPT1 PLEC POMK SGCG DAG1 DPAGT1 TRPV4 TPM3 TRAPPC11 ASAH1 ALG2 TTN PNPLA2 GMPPB DNA2 CHKB SGCB SELENON RAPSN ACTA1 SYNE1 PYROXD1 TPM2 FKTN POMGNT1 MUSK DOK7 RYR1 LAMA2 POMGNT2 INPP5K TRIM32 SGCA POMT1 SGCD NEFL GATM ORAI1 BICD2 DMD MYPN VMA21 ACBD5 ALG14 CFL2 PNPLA8 DNAJB6 DPM3 TK2 BIN1 SPEG MSTO1 CHRNA1 HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS SCN1A GARS1 REEP1 PRRT2 BSCL2 CACNA1A ATP1A2 HP_THENAR_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THENAR_MUSCLE_ATROPHY BSCL2 SPG11 PLOD3 GARS1 REEP1 SLC39A13 PDK3 HP_MUSCLE_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_SPASM GLA CHRNE MPZ REEP1 PMP22 VPS13C CPT2 VAPB FKRP PPARGC1A PYGL UCHL1 PGK1 BSCL2 MFN2 ALDH18A1 ALG2 PODXL GARS1 GMPPB KCNJ1 MAP3K20 VCP LRRK2 STX16 CARMIL2 COL5A2 UNC13A SLC16A1 KY SOD1 VPS35 GNAS STIM1 DNAJC13 SCN4A CHCHD10 RRM2B GLT8D1 TREM2 TWNK DGUOK AR PINK1 RTN2 ACADVL PRPH LAMA2 TRPM7 EPHA4 HTRA2 DNAJC6 COL1A1 POMT1 ATXN3 PYGM MYH7 PFKM GNA11 ORAI1 C9orf72 TBK1 HPDL GLE1 ALG14 DMD SNCA MATR3 FUS CACNA1S DCTN1 DNA2 RYR1 PFN1 ANXA11 PHKA2 SYNJ1 FBXO38 FDX2 WASHC5 CRPPA PHGDH POLG GFPT1 DPAGT1 AMPD3 SLC12A1 GABRA3 CHMP2B GFM2 ISCU COL4A1 TRAPPC11 NEK1 OPTN CLCNKB ACADM HADHB UBQLN2 LAMP2 CASR PON3 ATXN2 PHKG2 CFAP410 HINT1 SMN1 FKTN CASQ1 CAV3 KCNA1 OPA3 POLG2 TARDBP DOK7 ERBB4 HSPB1 TRPM6 PGAM2 TFG PIGG FLVCR1 MORC2 SLC12A3 GIGYF2 FIG4 EIF4G1 PON1 NEFH KCNJ18 HNRNPA1 SMN2 PRKN TAF15 DAO CCNF AMPD1 ABCB6 HADHA DLD COL5A1 SQSTM1 PARK7 PON2 ATP1A1 MT-ATP6 GBA PSAT1 ANG SLC25A4 SVIL LDHA HP_SYRINGOMYELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYRINGOMYELIA SETD2 ABCA1 DKK1 RUNX2 NOTCH3 HMGA2 FBLN1 TBX6 KDM1A ACY1 FOXF1 CREBBP CTNNB1 EP300 NFIA CCNQ NOTCH2 RAI1 NRAS LEMD3 DDR2 SH2B1 HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION AK9 CHRNE MUSK VAMP1 CHRNA1 VAPB DPAGT1 SLC25A1 PPARGC1A CHRND PLEC TPM3 ALG2 GMPPB COL13A1 UNC13A SOD1 NEB CASR ACTA1 STIM1 CHCHD10 POMT1 RYR1 GLT8D1 TPM2 COLQ CHRNB1 MAP3K20 LARGE1 TREM2 GNA11 PRPH ALG14 TOE1 EPHA4 POMT2 KBTBD13 HACD1 AGRN ORAI1 MYPN C9orf72 TBK1 DES RAPSN GLE1 MATR3 SYT2 FUS PFN1 ANXA11 GFPT1 KLHL41 DMPK LRP4 KCNE3 MYL2 KRT14 ITGA7 CHMP2B SCN4A NGLY1 CHAT NEK1 OPTN SNAP25 ACADM DKK1 LAMB2 UBQLN2 PON3 ATXN2 CFAP410 HINT1 CASQ1 LMOD3 SLC5A7 DOK7 TARDBP ERBB4 ACAD9 MYO9A CACNA1S FIG4 PON1 KRT5 NEFH SELENON LDB3 CFL2 FLNC HNRNPA1 RNASEH1 TAF15 DAO CCNF DCTN1 KCNK9 RRM2B VCP SQSTM1 PON2 COA8 ANG FKRP SLC18A3 HP_PARESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARESTHESIA GLA JAK2 SLC2A1 AIP C11orf95 PMP22 MFN2 CBLIF TGFBR2 SEPTIN9 PMS2 KCNJ1 HLA-DRB1 KRAS STX16 TET2 MPL CASR CCND1 GNAS THPO MTHFR SLC19A2 CCR1 STAT4 GNA11 CTDP1 CACNA1A FAN1 TP53 GNA14 IL23R PTPN22 POLG IL10 FAS SCN1A SPTLC2 MSH6 HPDL GRIN2A PRRT2 KIF5A MEN1 MLH1 FMR1 PDCD1 EPCAM TYMP ALAD MLH3 CUBN TK2 HMBS PIK3CA ERAP1 TLR4 SRPX2 SLC12A1 GABRG2 RELA GPR101 GALC SERPING1 PMS1 CLCNKB DKK1 APP UBAC2 TNFRSF1A NAGLU RRM2B HINT1 NLRP3 SCN4A OPA3 ATP1A2 CALR ATL1 MEFV HLA-B LIFR KLRC4 SLC12A3 RPS20 IL12A SH2B3 IL12A-AS1 SCYL1 GBE1 C4A SEMA4A NAGA BMPR1A MSH2 HLA-DQB1 HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS AK9 MUSK CHRNA1 AGRN CHRNE RAPSN LRP4 COL13A1 CHRND SCN4A CHRNB1 CHAT DOK7 HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION AK9 CHRNE MUSK CHRNA1 GFPT1 LRP4 COL13A1 ALG14 DPAGT1 CHRND NOTCH2NLC SCN4A ALG2 TTN CHAT GMPPB AGRN RAPSN LAMB2 COLQ SPEG CHRNB1 DOK7 BIN1 RYR1 HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES SPTLC2 RNF170 ATL1 HINT1 DHH HK1 SPTLC1 CCT5 NAGA MFN2 HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY CFAP410 KIAA0586 COL10A1 SRP54 SBDS TRPV4 CSPP1 DNAJC21 HP_ATLANTOAXIAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_ABNORMALITY DSE COMP GATA1 GNPTAB NFIX POLR3A CHST14 DYM FKBP14 DDR2 B3GALT6 HP_ATLANTOAXIAL_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_DISLOCATION DSE COMP GNPTAB NFIX CHST14 B3GALT6 HP_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CANAL_STENOSIS PDE4D NOG FBN1 GABRD FGFR3 AIP IARS2 RIPPLY2 DYM ADAMTS10 GPR101 TBCE EXTL3 KIAA0586 PHF6 DMP1 PRKAR1A KCNAB2 PRDM16 ENPP1 AKT1 RRAS2 IDS KANSL1 SKI PHEX RERE IDUA CSPP1 HP_CORONAL_CLEFT_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CLEFT_VERTEBRAE SLC10A7 HSPA9 SLC26A2 COL11A2 COL2A1 LONP1 FLNB HSPG2 PEX7 TRIP11 CSGALNACT1 CHST3 HP_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACK_PAIN CFH TP53 TRAF7 TERT VCP CD46 BRCA1 TBX6 KRAS TMEM43 NF2 TCIRG1 SMARCE1 CPOX RASA1 FLI1 ALDH18A1 PDGFB LMNA PALB2 FHL1 HGD PRKCSH PLEKHM1 EMD VANGL1 STAT6 SEC63 LMX1B CFI AKT1 HMBS SYNE2 CDKN2A HTRA1 VHL COL2A1 MATN3 NAB2 CAPN3 SPAST ATP7B BAP1 LRP5 SUFU PALLD BRCA2 PIK3CA SYNE1 HELLPAR SMAD4 HLA-B CLCN7 SMARCB1 DLL3 MESP2 PPOX SMO HP_LOW_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_BACK_PAIN STAT6 NAB2 HTRA1 SPAST ALDH18A1 TBX6 HP_VERTEBRAL_SEGMENTATION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_SEGMENTATION_DEFECT CHRM3 MEOX1 CLIP2 VANGL1 CHRNG SALL4 HES7 GLI3 FKRP COL2A1 STAG2 TBX6 FLNB GDF3 MAP3K7 WNT5A RBM8A SIX6 KDM6A SH2B1 FGD1 FANCI DNAL4 NALCN NXN LETM1 GDF6 CCDC22 HNRNPK FLNA CHRND HGD WNT7A MESP2 MADD NOG GPC4 JAG1 FGFR1 CPLX1 DCC PTCH1 ENPP1 EBP TBC1D24 GTF2IRD1 MYH3 RIPPLY2 GTF2I NSD2 CDK10 SON FANCB NTN1 TNNI2 MEG3 POR RFC2 RAD21 TAF1 NRAS RTL1 MBTPS2 PTCH2 SEMA3E KYNU GDF5 DLL3 GPC3 FGFR2 ROR2 B3GLCT TBL2 BMPER CHRNA1 MAFB IL1RN WASHC5 CTBP1 ABCC6 CHD7 SMAD4 SOX5 RAD51 HOXD13 FGFRL1 SUFU DKK1 SOX2 NOTCH3 COG1 CHN1 KMT2D DVL3 AFF4 HRAS ORC1 BAZ1B LIMK1 IKBKG ELN ANKRD11 PUF60 FREM2 ATRX TMCO1 KANSL1 TPM2 ACVR1 DVL1 TBX2 KRAS MNX1 NADSYN1 GRIP1 LFNG FZD2 TNNT3 MYO18B FUZ DLK1 FRAS1 HP_THORACOLUMBAR_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSCOLIOSIS NEPRO GNPTAB POP1 CDH11 LHX3 SLC26A2 MGAT2 HP_CNS_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_HYPOMYELINATION MTHFS SPTAN1 PIGW CYB5R3 TBCD EIF2B1 PHGDH PGAP3 SMPD4 DDOST PLP1 CNTNAP1 PRKDC TRAPPC11 GDAP1 PGAP2 GLUL BCAP31 QARS1 ZNF335 EIF2B2 SPATA5 EIF2B4 GABRA5 DARS1 PYCR2 WDR26 POLR3A ALS2 DYRK1A SLC25A12 SPG11 CYB5A PIGV EIF2B3 TUBB4A STXBP1 FUS PIGO POLR3B PIGL FAM126A SLC33A1 POLR1C ATP6V1A GRM7 INTU SIGMAR1 GAN SLC1A4 PEX13 EIF2B5 AHCY VPS11 SNIP1 RMND1 NARS2 SOX10 GJC2 GABRA2 PIGY PARS2 DALRD3 PURA ACBD5 NKX6-2 AARS1 RARS1 ADSL YIF1B HP_DECREASED_SIZE_OF_NERVE_TERMINALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SIZE_OF_NERVE_TERMINALS AK9 CHRNE MUSK CHRNA1 AGRN RAPSN LRP4 COL13A1 LAMB2 CHRND COLQ SCN4A CHRNB1 GFPT1 DOK7 HP_EMG_CHRONIC_DENERVATION_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_CHRONIC_DENERVATION_SIGNS SLC12A6 VCP HNRNPA2B1 ARSA SPG7 ALS2 PSAP MFN2 PLA2G6 TBCE SCO2 HSPB1 TBCK DCAF8 HINT1 MPV17 HSPB8 HNRNPA1 FBXO38 PRPS1 ASAH1 HP_EMG_NEUROPATHIC_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_NEUROPATHIC_CHANGES VAPB VCP ANO5 ARSA HSPB8 MFN2 GDAP1 PLA2G6 HSPB1 PMP22 IBA57 PLEKHG5 PSAP DYNC1H1 ATP7A MYH7 SYNE1 HINT1 MPV17 PRPS1 HSPB3 SLC12A6 GJB1 HNRNPA2B1 SPG7 ALS2 NOP56 LDB3 VRK1 TBCE SCO2 SMN1 IGHMBP2 TBCK TPP1 NEFH NEB VPS13A DCAF8 ACTA1 HNRNPA1 FBXO38 ASAH1 HP_AXONAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_LOSS UBQLN2 GJB1 TRIP4 UBTF FIG4 TYROBP RFC1 ADPRS SURF1 MOCS1 NDRG1 BAG3 ASCC1 NGLY1 INF2 MOCS2 HP_COLD_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLD_INDUCED_MUSCLE_CRAMPS MPZ GARS1 REEP1 PMP22 BSCL2 CPT2 HP_AXONAL_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_REGENERATION YARS1 NEFL GDAP1 GNB4 HK1 JPH1 HP_INCREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_IRON HAMP KIF23 STEAP3 HFE TFR2 BCS1L BMP2 HJV PKLR TTC37 HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY STAT4 FASLG STING1 SRP54 FAS PRKCD ITCH ELANE BACH2 IRAK1 RASGRP1 GFI1 SPP1 CASP10 TCIRG1 HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION PEX5 CPT2 PEX1 ABCD1 PEX19 HP_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_ABNORMALITY VCP RRM2B DMD DPAGT1 PSEN2 CHRND TMEM43 SMCHD1 MFN2 ALG2 LDB3 TRIM32 SEPTIN9 MTMR14 MAFB SIX3 POLG CASR ACTA1 ACTN2 SCN4A HAND2 ELP1 TPM3 MYH7 RAF1 CHRNB1 TNPO3 MAP3K20 LARGE1 CRYAB PRPS1 NALCN TIA1 COL12A1 FKTN ARSA COL13A1 DISP1 COL6A3 SPG7 KCNA1 NEB FXR1 POMT1 MT-TQ MYF6 DOLK AGRN SDHA RYR1 TBCK FHL1 CYP27A1 NODAL NEFH VPS13A SYT2 FRG1 CAP2 DCAF8 GMPPB MT-ATP8 SPEG COL6A2 CHRNA1 MSTO1 FBXO38 LAMA4 CRPPA ASAH1 TGIF1 TNNT1 TXNRD2 GFPT1 MT-TL1 PLEC ANO5 TTN ALG14 KCNE3 FKRP MYH6 ITGA7 TRIP4 CHRNE GLI2 TWNK MYOT ABCC9 GABRA3 UNC80 GDAP1 DES GATAD1 GAS1 HSPB1 CHAT FGF8 GNE SNAP25 MT-TK LAMP2 DYNC1H1 MT-TS2 ATP7A MYBPC3 TNNI3 SYNE1 HINT1 MPV17 SMN1 DNM2 CASQ1 MYPN MT-ND5 OAT SLC5A7 POLG2 EMD LGI4 FHL2 ACAD9 ABHD5 HSPB3 GYG1 MTM1 SYNE2 ALS2 PSAP KCNJ18 SELENON NOTCH2NLC CPLANE1 SMAD4 TBCE SCO2 SMN2 KLHL9 PTCH1 BIN1 SGCA TPM2 MT-TF CEP126 PLA2G6 DSG2 HSPB8 ANKRD1 SLC18A3 TNNC1 PPCS MYBPC1 AK9 MUSK POMT2 VAMP1 ZIC2 SHH ANO10 SGCD DNMT3B FGFR1 KLHL41 SLC25A1 HSPG2 BAG3 PUS1 SCN5A PMP22 IBA57 SQSTM1 PDK3 SLC25A4 STIM1 PLEKHG5 COLQ ATP13A2 TAF1A GNA11 MT-TL2 ABCA1 VCL TMPO NOP56 DMXL2 VRK1 DLL1 CNTNAP1 SGCG KBTBD13 DYSF HACD1 IGHMBP2 ORAI1 TPP1 RAPSN PRDM16 LMNA CACNA1S MT-TH APOA1 PSEN1 HNRNPA1 COL6A1 MT-RNR1 PLN SUFU MATR3 MT-TP VAPB DMPK ATXN3 LRP4 MYL2 NEBL TCAP LRP12 COQ8A CAV3 MT-TN SAR1B CPT1C CACNA1D LAMB2 GBE1 TAZ CDON TDGF1 POMGNT1 CLCN1 DOK7 TNNT2 MYO9A SLC12A6 GJB1 HNRNPA2B1 ACTC1 DHX16 TPM1 FOXH1 DUX4 NEXN LAMA2 TANGO2 CSRP3 GIPC1 TK2 YARS2 MYH14 B3GALNT2 PLOD1 RBM20 ADCY6 SVIL HP_EMG_MYOPATHIC_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_MYOPATHIC_ABNORMALITIES MYBPC1 AK9 MUSK VAMP1 CHRNA1 VCP ZIC2 SHH FGFR1 KLHL41 SLC25A1 CHRND TMEM43 BAG3 GNE SQSTM1 NEB MTMR14 SIX3 COL13A1 POLG SLC25A4 ACTA1 STIM1 MYH7 RRM2B RYR1 TPM3 COL6A3 CHRNB1 TNPO3 MAP3K20 CRYAB NALCN TWNK TIA1 COL12A1 DISP1 TRIM32 LDB3 DLL1 FXR1 POMT1 TTN SGCG KBTBD13 MYF6 LARGE1 DYSF HACD1 AGRN ORAI1 RAPSN FHL1 NODAL SYT2 BIN1 MSTO1 HNRNPA1 SUFU CRPPA TGIF1 TNNT1 PLEC ANO5 LRP4 MYL2 ITGA7 TRIP4 CHRNE LRP12 GLI2 MYOT UNC80 CAV3 SCN4A COL6A2 GAS1 SAR1B FGF8 LMNA SNAP25 LAMP2 DES COL6A1 CDON TDGF1 DNM2 FKTN CASQ1 SLC5A7 POLG2 EMD DOK7 ACAD9 MYO9A ABHD5 GYG1 HNRNPA2B1 DHX16 SYNE2 MYPN CHAT FKRP FOXH1 SELENON TPM2 KLHL9 PTCH1 TANGO2 GIPC1 SGCA TK2 SYNE1 MYH14 PLOD1 SLC18A3 SVIL HP_POLYCLONAL_ELEVATION_OF_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCLONAL_ELEVATION_OF_IGM MST1 MYD88 KLHDC8B TCF4 GPR35 HP_DECREASED_CIRCULATING_TOTAL_IGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGA CD3E CD247 PIK3CD IVNS1ABP CD3D KNSTRN HP_ABNORMAL_VERTEBRAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY MEOX1 WDR35 KDM6A CLIP2 COMP COL2A1 SALL4 LRP5 MMP13 CDH11 HES7 FSHR PROP1 ARMC9 STAG2 ATP7A XYLT1 DDRGK1 AGA DLL1 RMRP HHAT FGFR3 MAP3K7 WNT5A FANCI TENT5A SKI LOXL3 GDF6 CCDC22 ACP5 CHRND HIBCH B9D1 GLB1 NR5A1 NODAL SUMF1 B3GALT6 PLOD2 FGFR1 CPLX1 KIF22 OCRL DCC GLI3 TBC1D24 TBX15 RPS19 GTF2I SF3B4 SPARC DYM NSD2 NSDHL TNFRSF11A GPX4 COL10A1 TRPV4 KATNIP SLC26A2 NTN1 RSPO2 TNNI2 RNU4ATAC MATN3 MBTPS2 KCNJ8 SEC23A KIAA0586 FANCB RAD21 TAF1 FN1 COL1A1 FUCA1 PTCH2 UFSP2 SEMA3E CREB3L1 KYNU FOXF1 ROR2 B3GLCT INPPL1 PDE4D MIR140 TBL2 DHODH LHX4 BMPER GPC3 DEAF1 CHRNA1 FKBP10 NELFA PHF6 ACVR1 DYNC2H1 ACAN COL1A2 FBN1 CCDC8 TBXAS1 DYNC2I2 PHEX COG4 CTSK IHH HAAO SFRP4 ORC1 SGSH GUSB LIMK1 WASHC5 MYH3 WNT1 P3H1 SALL1 HSPG2 KANSL1 AHI1 MNX1 GLI2 DHX37 SMARCAL1 COL11A2 LBR NADSYN1 ENPP1 SOX9 NOTCH2 TBXT DHCR7 FZD2 ERF PCYT1A CEP104 FUZ CHRNG PLS3 FKRP PSMC3IP TBX6 PAPSS2 RECQL4 GBA GNPTAB COL11A1 CSPP1 FGFR2 RBM8A PMM2 HDAC6 SIX6 EIF2AK3 LETM1 AIP FLNA VANGL1 WNT7A MESP2 MADD TONSL GPC4 TCTN1 CCL2 GJA1 PTCH1 GLE1 P4HB B3GAT3 PEX7 SRP54 COLEC11 POLR3A RIPPLY2 EXOC6B LONP1 ZBTB20 GAS1 GDF5 DLL3 NOTCH2NLC AKT1 GDF3 HESX1 IDUA TMEM237 TRAPPC2 CANT1 WNT3 MAN2B1 TCIRG1 IL1RN TRIP11 KDELR2 ABCC6 CEP120 SLC25A24 OBSL1 ALG12 NSD1 NOTCH3 CHN1 FLNB KMT2D LTBP3 GORAB PIBF1 PRKAR1A SOX2 CDON ELN PUF60 FOXA2 SLC39A13 FREM2 SLC35D1 IFT80 CCN6 COG1 SC5D ANTXR1 CUL7 SEC24D HNRNPK SCARB2 SLC10A7 CTSA SLC29A3 ZIC2 AIFM1 PAX3 SHH ADA CSGALNACT1 FRAS1 RAB33B TMCO1 BNC1 HSPA9 SBDS RPS6KA3 NUP107 SERPINF1 PPP1R15B SH3PXD2B SH2B1 FGD1 EXTL3 DNAL4 NALCN APC CCND1 PYCR1 FLII ASXL1 DKK1 NANS INPP5E DISP1 POU1F1 NOG RAI1 GTF2IRD1 CFAP410 PLCB3 BMP1 PTEN DNAJC21 POR DMP1 RPL13 RFC2 SGMS2 NRAS SIX3 ZIC3 POLR3H SPIDR XYLT2 DDR2 IDH1 FGF8 USP8 RSPRY1 COL9A1 NEU1 MAFB DSE NEK9 VDR PPIB FOXH1 SMAD4 TMEM67 SOX5 TCTN2 CHD7 LRP4 SON SUFU ARL13B DVL3 MMP2 ANKRD11 CEP41 SETD2 PTH1R ATRX RUNX2 NEPRO CHST3 IQSEC2 DVL1 TBX2 PLOD3 SMOC1 GRIP1 NAGLU CLCN7 MRPS28 CHST14 NPR2 CRTAP DLK1 HYLS1 CPLANE1 ALPL CHRM3 ITCH TAPT1 IFITM5 SOST ABCC9 IFT43 TWIST1 NXN MKS1 HGD IDS TBX5 VPS35L NF1 EBP PLEKHM1 JAG1 GALNS UROS TGIF1 BGN APC2 CDK10 MEG3 PIEZO2 RTL1 CBS TDGF1 PAM16 CSF1R COL9A3 NKX3-2 DYNC2I1 MMP14 GNS GNPAT KDM1A IARS2 NEK1 CTBP1 EFL1 RAD51 DACT1 HOXD13 MESD BMP15 ARL3 FGFRL1 RINT1 FLI1 SERPINH1 WNT3A AFF4 HRAS MPL SOX3 BAZ1B IKBKG HGSNAT VANGL2 TPM2 POP1 MRPS22 KRAS LFNG TNNT3 OTX2 KLHL7 COL9A2 MYO18B IDH2 ARSB UBE3B HP_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARALYSIS SDHD ALOX12B VAPB CPOX PPARGC1A GDAP1 PMP22 SDHB TMEM43 MFN2 BAG3 RET CNTNAP1 SCN4A TRIM2 UNC13A COL4A1 SOD1 EPAS1 DCTN1 CHCHD10 GLT8D1 VHL HFE FGFR1 MLXIPL POLG TREM2 ALOXE3 TMEM127 PRPH CDH23 GBA SDHAF2 TRPM7 MEGF10 EPHA4 FH SCN1A SLC52A3 SETBP1 TGM6 GM2A UBQLN2 ALDH18A1 IGHMBP2 C9orf72 TBK1 FHL1 GLE1 CYP27A1 PPOX LONP1 MATR3 FUS CACNA1S SLC2A1 PFN1 ANXA11 RARS1 NONO HK1 KCNJ18 ALAD FIG4 HMBS ATXN3 MAX KCNE3 PRX DNMT3A CLCN7 SLC25A19 HSPB8 TRPV4 GABRA3 CHMP2B MDH2 TCIRG1 CACNA1A NEK1 OPTN CLCNKB KCNJ2 DKK1 LMNA PON3 SLC4A1 ELN LMNB1 SDHC ADGRG1 ATXN2 CFAP410 KRAS ZFYVE26 ATP1A2 EMD TARDBP DLST ERBB4 SLC5A7 FAH POLA1 SDHA SLC12A3 SLC25A11 SYNE2 PON1 SRPX2 NEFH NF1 MYCN HNRNPA1 PI4KA GAA HSPB1 B4GALNT1 TAF15 DAO CCNF CD59 NOTCH3 PRRT2 CA2 ABCB6 VCP SQSTM1 SYNE1 PON2 PDCD10 TRAPPC12 TPI1 MORC2 TNFSF11 ANG KIF1B BCHE SEC31A HP_HYPOCALCEMIC_TETANY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIC_TETANY GNAS STX16 TBCE FAM111A CTNS HP_SENSORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_IMPAIRMENT SCYL1 SPG11 REEP1 MAPT WDR48 HPGD SCN9A ABHD12 VPS37A SLC25A15 AIFM1 BSCL2 MFN2 SETX MAG TRPV4 SHANK3 ALMS1 KIF5A DNAJC3 ATXN7 NIPA1 POLG ATL1 CHST14 FLII KIF1A RTN2 GPI REEP2 ATP13A2 ELP1 RFC1 NDRG1 LITAF SLC33A1 SOX10 RAI1 NTNG1 MAGEL2 VCP PGM3 SPG7 SNRPN KCND3 SBF1 SORD GBA2 XRCC1 ALDH18A1 SPART FLRT1 IFRD1 CCT5 ATXN3 DNM2 TDP1 MSTO1 MPZ NDN SPAST DARS2 PMP22 NEFL NEFH PLEKHG4 VPS13A ARSI JPH1 DCAF8 SLC25A46 MEN1 GAN CLTCL1 SACS HARS1 TWNK PRKCG CDKL5 PIK3CD PDYN FXN CHAMP1 SLCO2A1 DEAF1 PRX LIFR DNAJB2 LMNA NARS1 DSE SCN10A TFG GDAP1 GALC GCH1 CACNA1A FLI1 HSPB1 GNB4 SIM1 DKK1 PDK3 HERC2 DYNC1H1 MT-ATP6 YARS1 ATP7A SYNE1 HINT1 MPV17 PLD3 PWAR1 ATP1A2 SAR1B ATXN1 PNKP FLVCR1 TPP1 MORC2 GRIA3 RNF170 NOTCH2NLC IQSEC2 C12orf65 PLEKHG5 SCO2 INF2 KLHL9 NTRK1 GBE1 ATXN2 DDHD1 NPAP1 TGM1 SH3TC2 UBTF ATN1 NF2 ATL3 HSPB8 SNORD116-1 GJC2 SBF2 ZFHX2 PIEZO2 NAGA GMPPA CBLIF BAG3 WNK1 RASA1 CYP7B1 KARS1 MME PRPS1 FBLN5 GARS1 HDAC4 PIK3R5 MECP2 HNRNPK MKRN3 KCNC3 DAB1 SNORD115-1 MADD COX6A1 SCN11A STUB1 GJB1 IGHMBP2 MCM3AP FGD4 SYNGAP1 RETREG1 PEX10 DHH RAB7A SCN1A NGF ZEB2 SAMD9L HK1 ABCD1 CACNA1G SPTLC2 ERLIN2 OCA2 MATR3 WASHC5 BEAN1 HSPD1 KIF1B CHCHD10 ABCA1 MARS1 CUBN ATXN8OS TK2 LYST IBA57 TYMP IARS2 C19orf12 KCNQ1OT1 AEBP1 H19 IGF2 PWRN1 CPT1C GABBR2 TBP SERPINI1 PEX7 APP FBN1 SLC52A2 APTX NAGLU FIG4 CAV1 KLC2 POLR3A ZFYVE26 OPA3 LRSAM1 FMR1 MTMR2 FGF14 EGR2 HMBS CAPN1 NGLY1 SPTLC1 COA7 B4GALNT1 STXBP1 PRRT2 MTTP KNSTRN ELOVL5 OPA1 DHTKD1 MT-TE PHYH EBF3 AARS1 PLOD1 SPTBN2 MED25 VAMP1 PEX6 PPOX HP_PERIPHERAL_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_NEUROPATHY VCP WDR48 PIEZO2 WFS1 TDP1 GMPPA SYNE1 TRIP4 NAGA ELOVL5 PIGB ERCC6 TWNK AIFM1 MFN2 SETX TRAPPC11 IBA57 STAT3 MME GBA2 TRIM2 MTMR14 DARS2 FBLN5 POLG PNPLA6 ABCD1 TUBB3 SH3TC2 RRM2B ALDH18A1 AAAS MT-ND1 ABCC8 ATP13A2 MT-TF SPG11 MPZ DGUOK B2M MCM3AP CTDP1 ACOX1 ZFYVE26 PDX1 SPG7 MT-CO3 KRAS AMPD2 ALAD FLRT1 IFRD1 HK1 MT-TQ SERPING1 CTSD CCT5 PRICKLE1 TTR MYF6 RETREG1 MT-CO1 GJC2 RYR1 NEFH PLEKHG4 VPS13A DCAF8 KIF5A VPS13D MT-TS2 GAN TBCE HARS1 HNRNPA1 COX20 ABCA1 TYMP MARS1 TK2 MT-ND5 DMPK ATXN3 KLC2 TBCD XK FXN ATAD3A PEX10 KIF1A SLC25A19 XRCC4 ASCC1 ERCC8 FGF14 PLA2G6 HSPB1 KCNJ10 C12orf65 DYNC1H1 KCNJ11 MT-ND6 CYP2U1 MT-ATP6 INS TRPV4 HINT1 MPV17 PLD3 GLE1 POLG2 SHMT2 ATL1 SLC12A6 HNRNPA2B1 C19orf12 COASY MT-TW GCK HMBS DHX16 DNM2 MT-TL1 CAPN1 BRAF MICU1 SPTLC1 MT-TH COA7 WARS1 ELOVL4 KLHL9 MT-ND4 BIN1 COG8 KCNK9 GBE1 DDHD1 MT-TE NEMF ATL3 HSPB8 AARS1 MT-CO2 MORC2 PLOD1 SLC25A4 AFG3L2 HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION MPZ SBF2 MT-ND4 MT-ND6 PMP22 MT-TW MT-TL1 EGR2 MT-ATP6 MT-ND1 MT-ND2 DNM2 PRPS1 NEFL MT-ND3 MT-TV MT-TK NDRG1 PRX LITAF MT-ND5 HP_EMG_AXONAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_AXONAL_ABNORMALITY GNE ATP13A2 PDK3 ANO5 CYP27A1 SGCG HP_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_MUSCLE_WEAKNESS MPZ AK9 EGR2 MUSK REEP1 CHRNA1 TRAF7 ANO5 TERT PIEZO2 LRP4 ADAR SPG7 LMNA CHRNE CHRND TMEM43 NF2 BSCL2 SMARCE1 SCN4A MFN2 CPOX GALC PDGFB GARS1 MTMR14 KY MT-ATP6 YARS1 ACTA1 POU3F4 CHRNB1 CHCHD10 ZFYVE26 NUP62 EMD DOK7 ADSS1 FGD4 GYG1 AKT1 COL13A1 HMBS LAMA2 SYNE2 DNM2 POMT1 SPART LDB3 C12orf65 VHL MYH7 SGCG MYF6 CYP7B1 DYSF BAP1 AGRN RYR1 BIN1 SUFU RAPSN FHL1 NEFH PIK3CA GMPPB SYNE1 SH3TC2 CRPPA TCAP SMARCB1 MORC2 PLOD1 FBXO38 PPOX SMO LIPE HP_BABINSKI_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BABINSKI_SIGN NT5C2 SPG11 HSPD1 NDUFS4 ATP6AP2 SQSTM1 ATXN10 ABHD12 MCOLN1 ERLIN1 AP4M1 ADGRG1 CTSF MFN2 FTL MAG MTPAP DMD WWOX KIF5A PRPS1 DNAJC3 GDI1 ATXN7 ACOX1 NIPA1 KY ATL1 PSAP RTN2 ALDH18A1 FUS DDC ATP13A2 POLR3A MT-ATP6 TSEN15 VCP GAD1 SLC33A1 SELENOI DNMT1 CAPN1 KIF1A SPG7 PYCR2 NUBPL ARSA DLAT CPT1C ARHGEF6 SEPSECS GBA2 RPS6KA3 SPART HTRA1 B4GALNT1 CCT5 ATXN3 AP4B1 TGM6 AP4E1 BRAT1 PNPLA6 SPAST TRMT5 DARS2 SETX HPDL AFG3L2 NEFH RNASEH1 EEF2 SLC25A46 SACS DLG3 SIGMAR1 OPA1 COQ2 ABCB7 KDM5C C19orf12 PCYT2 UBAP1 PDYN FXN ADAR SNX14 PET117 TFG ADPRS GFM2 ZFYVE27 GCH1 SPG21 UPF3B SNCA TBK1 SLC2A1 FAM126A TSEN2 CHCHD10 BSCL2 KCNA4 RUSC2 DKK1 FBXO7 USP9X SDHAF1 HADHB TH TAF2 IQSEC2 CYP2U1 SDHA FARS2 PSEN1 SYNE1 TMEM63A TSEN54 NUP62 SHMT2 ASPA TPP1 CNP POLR3B GRIA3 SLC39A14 ALS2 MECP2 RNF170 GRID2 MED12 PGAP1 NFASC FA2H ACSL4 C12orf65 SLC44A1 HADHA REEP2 DDHD1 NOP56 GJC2 CTDP1 KIF1C TARDBP EIF2S3 TYROBP CNTNAP1 ZNF81 CYP7B1 SDHD IBA57 SLC2A3 CACNA1A GLRX5 PAK3 COL4A1 GPT2 DARS1 DSTYK AAAS RFC1 SYP OPA3 REEP1 SOD1 DDHD2 JAM2 GJB1 MID2 MDH2 PLAA ZFYVE26 UGDH SLC1A4 AGTR2 ZNF711 GAN PLP1 SAMD9L NEFL AP4S1 CACNA1G PRICKLE1 LARGE1 CNKSR2 TTC19 ERLIN2 SLC16A2 DEGS1 WASHC5 VPS13D AIFM1 NDUFS1 CLCN4 COX20 ALG13 HTT UCHL1 MAN2B1 ZNF41 PTCHD1 DPM3 TSPAN7 RAB39B PRNP PLA2G6 ATXN1 SLC9A7 GALC FRMPD4 LMNB1 CAV1 USP27X ARX TSEN34 CHP1 CXorf56 PIK3R5 ZFR SLC19A3 IREB2 TIMM8A C9orf72 CHMP2B TANGO2 IL1RAPL1 PARS2 SDHB PRSS12 PIGT MTTP FTSJ1 HCFC1 MT-TE TREM2 MORC2 VAMP1 KCNA1 NDUFA4 CWF19L1 HP_ANTINUCLEAR_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY SLC7A7 TNFAIP3 IL12A STAT4 PLCG2 PTPN22 FCGR2A FAS SPP1 PRKCD TREX1 CASP10 IL2RA POU2AF1 SPIB ACP5 CTLA4 RASGRP1 MMEL1 MMP2 PTPN2 LACC1 ANKRD55 FASLG CD247 COPA NLRP1 IRF5 TNPO3 TNFSF15 FCGR2B STING1 IL2RB RIPK1 IRAK1 DNASE1 IL12RB1 HP_INCREASED_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGM_LEVEL FASLG PIK3CD MST1 IL12A PGM3 KLHDC8B CD40 IRF5 TNPO3 TNFSF15 CD247 OTULIN FAS MYD88 NSMCE3 POU2AF1 SPIB SH2D1A RASGRP1 IFNGR1 DNMT3B VPS33A MMEL1 XIAP CD40LG TCF4 GPR35 IKBKG IL12RB1 UNG CASP10 HP_DISPROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_STATURE WDR35 COMP MMP13 PUF60 FGFR3 COL11A1 COL2A1 EVC DDRGK1 WNT5A FGFR1 TONSL IFT122 FLNB RMRP LBR CEP120 FZD2 EXTL3 KMT2A SLC26A2 MTOR GPC6 XYLT1 ARCN1 MATN3 TBX15 CFAP410 DYM ASXL1 GPX4 RNU4ATAC MBTPS2 KIAA0586 COL1A1 WDR19 GLI1 CREB3L1 KYNU GSC DDR2 B3GLCT INPPL1 BRF1 BMPER SHOX GLB1 PPIB COL1A2 GDF5 DYNC2H1 ACAN COG1 DYNC2I2 PHEX IHH DHCR24 COL10A1 PTH1R P3H1 HSPG2 CHST3 NSMCE2 SMARCAL1 PRKAR1A DHCR7 NPR2 PCYT1A CRTAP BMPR1B ALPL WNT7A TBX6 PCNT RSPRY1 XYLT2 HDAC6 MAB21L2 NXN MYSM1 TRPV4 TRIP11 EBP SLC39A8 GALNS IFT43 IFT80 PKDCC MESP2 BGN B3GAT3 PEX7 CANT1 DYNC2LI1 NKX3-2 DLL3 DYNC2I1 EVC2 SIK3 XRCC4 TRAPPC2 GNPAT KDELR2 ALG12 IFT52 MESD ROR2 MIR140 SOX9 ACP5 DVL1 CSPP1 SMC1A SLC35D1 SLC10A7 AGPS ARSB RAB33B POC1A HP_MILD_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_SHORT_STATURE MATN3 PDE4D DOCK3 RTTN COMP EVC FN1 LBR COL1A1 EVC2 CHST11 FGD1 CANT1 IDS COL9A3 COL10A1 COL2A1 COL9A2 CAMK2G PRKAR1A HP_PROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPORTIONATE_SHORT_STATURE PTCD3 HSPA9 COMP SALL4 HHAT CENPT NIN TBX6 GORAB PTDSS1 TKT FGFR1 SCNN1A SIL1 WNT5A LTBP3 SDHD TRMT10A DNMT3A PNPLA6 PYCR1 HADH XYLT1 PIK3R1 FGFR3 IDS SELENOI CTNNB1 RUNX2 LARP7 CHST11 SLC26A2 PEX7 GHRHR EVC TRIP11 COL10A1 ACAN CANT1 MATN3 MBTPS2 PDE4D PIEZO2 RPL13 NPR2 SGMS2 FN1 POLE ORC6 DLX5 SCNN1G KIF11 SCNN1B DLL3 ALDH18A1 COL9A2 STAT5B CAMK2G ERCC4 ORC4 TCTN3 ATR BRF1 FBN1 AMER1 ERCC6 COX7B COL1A2 ATP8B1 FGD1 RMRP NDUFB11 FAM111A MAP3K7 DOCK3 TBCE CDC6 SON PPP1R15B GHR LBR COL1A1 EVC2 SDHAF1 NSMCE2 GH1 SDHA TRPV4 DVL3 COL9A3 PTH1R COL2A1 PRKAR1A CDC45 RNU4ATAC KAT6B GLB1 B3GALT6 FLNB CTSA SLC39A13 NEPRO SMARCA2 DDRGK1 ADAMTS10 ANTXR2 BRAF SMAD4 DVL1 CDT1 CKAP2L RTTN ORC1 GMNN HCCS SDHB FZD2 INPP5K DHCR24 SHOX CRIPT HOXD13 PCYT1A INPPL1 MESP2 ADAMTS2 HP_SEVERE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_STATURE PTCD3 HSPA9 COMP SALL4 HHAT CENPT NIN TBX6 GORAB PTDSS1 FGFR1 SIL1 WNT5A LTBP3 SDHD PNPLA6 PYCR1 XYLT1 PIK3R1 FGFR3 IDS LARP7 SLC26A2 PEX7 GHRHR TRIP11 CANT1 MBTPS2 PIEZO2 RPL13 SGMS2 POLE ORC6 DLX5 DNMT3A KIF11 DLL3 ALDH18A1 STAT5B ERCC4 ORC4 TCTN3 BRF1 AMER1 ERCC6 COX7B COL1A2 ATP8B1 RMRP NDUFB11 FAM111A MAP3K7 CDC6 FBN1 GHR SDHAF1 NSMCE2 GH1 SDHA TRPV4 DVL3 PTH1R COL2A1 CDC45 RNU4ATAC KAT6B GLB1 B3GALT6 FLNB CTSA NEPRO SMARCA2 DDRGK1 ANTXR2 SMAD4 DVL1 CDT1 CKAP2L RTTN ORC1 GMNN HCCS SDHB COL1A1 FZD2 INPP5K DHCR24 SHOX CRIPT PCYT1A INPPL1 MESP2 ADAMTS2 HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE GPC4 MTM1 SUZ12 GPC3 PIGA HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE GALNS DYM BRF1 PUF60 BMPER COL2A1 MESP2 TBX6 BGN FLNB RSPRY1 GLB1 XYLT2 SMARCAL1 CHST3 TRAPPC2 ACP5 TRPV4 TRIP11 NKX3-2 ARSB DLL3 RAB33B HP_ELEVATED_CALCITONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CALCITONIN SDHD GNAS RET TMEM127 SDHA CDKN1B CDKN1A MAX CDKN2B SLC25A11 SDHAF2 FH MDH2 NF1 PDE4D MEN1 PRKAR1A CDKN2C SDHB VHL SDHC DLST KIF1B HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION ETFB ETFA ETFDH DNAJC19 GCDH HP_3_METHYLGLUTACONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_3_METHYLGLUTACONIC_ACIDURIA AUH CLPB HMGCL ATPAF2 ATP5F1E MICOS13 ATAD3A SERAC1 DNAJC19 TMEM70 AGK ATP5F1D TIMM50 HTRA2 POLG OPA3 TAZ HP_HYPOURICEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOURICEMIA SLC34A1 NDUFAF6 GPHN MOCOS SLC22A12 GATM PNP EHHADH MOCS1 SLC2A9 PRPS1 CTNS MOCS2 HNF4A SLC2A2 HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION GALNS IDUA GNS NAGLU COL2A1 HYAL1 HGSNAT IDS GUSB VPS33A GNPTAB RMRP GLB1 ARSB PIK3C2A SUMF1 SGSH FUCA1 HP_INCREASED_SERUM_PYRUVATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_PYRUVATE NDUFA11 NDUFS4 NDUFB9 PDHX NDUFAF1 LIPT2 COX6A2 TWNK NDUFAF4 LONP1 NDUFS7 BCS1L UQCRC2 TIMMDC1 NDUFAF2 SLC25A26 NDUFV1 FOXRED1 POLG MT-TK AIFM1 NDUFS6 MT-TF NDUFA1 TMEM126B MT-ND3 NDUFAF5 NDUFS1 MT-TL1 NDUFS8 MT-TI NDUFAF3 NDUFS3 PC PDHA1 NDUFAF8 NDUFB11 NDUFB3 NDUFB10 ACAT2 MT-ND2 MPC1 NDUFA6 PNPLA8 NUBPL MECP2 MT-ND1 NDUFV2 COX10 MT-TP NDUFS2 LDHA HP_EXERCISE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INTOLERANCE PHKA1 NDUFS4 SLC25A4 RRM2B NKX2-5 SURF1 FARSB CAVIN1 BCS1L GCDH POLG TBX20 ACTC1 GMPPB FLAD1 MT-ND1 TPM3 MYH6 MT-TF C1QBP CITED2 FARSA TWNK POLR2A TOP3A SLC18A3 ATP5F1D MT-CO3 MIEF2 NEB PUS1 COL13A1 RSPH9 MT-TQ COA3 PYGM PFKM KBTBD13 MT-CO1 GATA6 TRMT5 DMD RNASEH1 RSPH4A MGME1 YARS2 MT-TS2 PHKA2 TAZ TK2 KLHL41 MT-ND5 POLG2 ACTA1 COL12A1 COQ8A ISCU PNPLA2 DNA2 MT-TK TMEM126B CPT2 HADHB MT-ND6 LAMP2 AGK MT-TN PHKG2 HINT1 CHCHD10 TLL1 PGAM2 ENO3 MT-TW PGM1 MYPN MT-TL1 GYS1 ACAD9 SDHA MT-TH TPM2 MT-ND4 BVES HADHA PGK1 GATA4 MT-CYB MT-TE MT-CO2 LDHA HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS FRG1 AK9 MUSK MATR3 ABHD5 POLG CHRNA1 GYG1 DMPK VCP ANO5 LRP4 COL13A1 FKRP HNRNPDL TRIM32 CHRNE CHRND SCN4A MYH7 TTN GNE MYOT AGRN RAPSN PNPLA2 DNAJB6 RRM2B BICD2 RYR1 PSAP MT-TE CHRNB1 GALC DYSF TNPO3 POLG2 DOK7 SLC25A4 TWNK HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA POLG PNPT1 TWNK ISCU SLC25A4 TYMP HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA GJC2 FLT4 SOX18 FOXC2 VEGFC DNMT1 HP_DIFFICULTY_CLIMBING_STAIRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_CLIMBING_STAIRS POLG GFPT1 PLEC POMK VCP DYSF DAG1 FLNC FKRP DPAGT1 MFN2 TPM3 ALG2 TTN GMPPB PLEKHG5 HADHB CAPN3 RRM2B PYROXD1 TPM2 DNAJB6 POMGNT1 POLG2 POMT1 TWNK ADSS1 RYR1 KBTBD13 ACTA1 LAMA2 ANO5 TFG MIEF2 SGCA POMT2 SGCG RNASEH1 HADHA MYOT MYPN VMA21 ALG14 DMD MT-TE SPEG TCAP BIN1 SLC25A4 HP_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_STIFFNESS RNASEH2B ADAR PHKA1 TK2 KLHL41 ANO10 CPT2 KAT6A SCN4A ACTA1 MYOT GABRA3 DNAJC6 RNASEH2A PODXL SIL1 GLRA1 MAPT CAVIN1 GPHN ATP13A2 SLC16A1 SAMHD1 CACNA1S GLRB MYO5A MT-ATP6 FGFR1 PSAP TPM3 RYR1 HINT1 KRAS SLC6A5 CAV3 KCNA1 ZFYVE26 ARX CRYAB KBTBD13 KIF1A SPG7 RNU4ATAC VAMP1 STIM1 ANO5 CLCN1 POLG MYPN KCNJ18 TREX1 PRKAR1B NEB LDB3 PYGM PANK2 TPM2 SPAST DARS2 RNASEH2C SYNJ1 ATP2A1 REEP2 ACADVL INPP5K TNFRSF1A DHCR24 KIF5A KIF11 SLC2A1 GALC ATAD1 IFIH1 LDHA HP_TYPE_2_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_2_MUSCLE_FIBER_ATROPHY PNPT1 CHRNE STIM1 ORAI1 CNBP SARS2 LAMB2 ALG14 COLQ CASQ1 GFPT1 CHRNA1 CHAT HP_MUSCLE_FIBER_SPLITTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_SPLITTING DYSF CAPN3 TNXB ANO5 TTN ACTA1 FLNC NEFH DNAJB6 ADSS1 LDB3 TRPV4 CRYAB MYH7 HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS DGUOK TSEN15 TSEN34 TSEN54 SEPSECS TSEN2 HP_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_DYSTROPHY COL12A1 FKTN POMT2 SYNE1 FKRP BUB1B GMPPB HNRNPDL POMK SELENON TMEM43 COL6A1 SIL1 BAG3 SYNE2 HNRNPA1 CAVIN1 POMGNT1 CHKB NR0B1 CRPPA LARGE1 COL4A1 RXYLT1 TNPO3 BUB1 DAG1 BUB3 MYH7 COL6A3 TRIP4 ANO5 TRIM32 LAMA2 PLEC POMT1 AHCY POMGNT2 TTN B4GAT1 PIEZO2 DYSF LMNA TRAPPC11 FHL1 DMD SMCHD1 LIMS2 CEP57 COL6A2 TCAP CRYAB B3GALNT2 RYR1 FRG1 PHGDH SGCG PNKP DPM3 CAPN3 HNRNPA2B1 EMD ACTA1 SGCA TRIP13 SGCD TOR1AIP1 BVES CAV3 GK SGCB DNAJB6 INPP5K PSAT1 ITGA7 DPM1 LIPE HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE TBCE B3GLCT ORC6 PLAG1 SMPD4 CDC6 EIF2S3 DYRK1A PIK3R1 HMGA2 ORC1 SMAD4 ORC4 CDT1 HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION APOA5 APOB MTTP FDFT1 CCT5 APOC3 PANK2 NGLY1 ANGPTL3 MSMO1 SAR1B HP_LOW_PLASMA_CITRULLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_PLASMA_CITRULLINE MT-ND4 MT-ND6 MT-TW OTC MT-TL1 PCK1 MT-ND3 MT-ATP6 MT-ND1 MT-TV MT-TK MT-ND2 CPS1 MT-ND5 MRM2 HP_INCREASED_TOTAL_BILIRUBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_TOTAL_BILIRUBIN PRKCSH LIPT1 SEC63 PRF1 CPT2 POLG2 KCNN4 LRP5 PFKM SLC4A1 PIEZO1 HP_CONGENITAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ONSET ACTA1 PDHX WDR62 TRIP4 STT3A ELOVL4 TYR COX6A2 NEXMIF C2CD3 LRTOMT KIAA1109 SCN5A TMEM70 GMPPB LAMB3 ABCA3 NAA10 CSPP1 COG6 FCSK MKS1 BICD2 NRAS ACP5 COA5 TELO2 BSCL2 POMK TUBGCP6 VIM NEDD4L MRPS22 NDUFB11 COL25A1 ITGB4 MYL1 WDR81 TTC25 HK1 MEGF10 COL1A2 MPDU1 PC IGF1 ARMC9 CTSD AP4B1 SCO2 FKRP ATAD1 TSEN54 USP18 ITGA8 LAMA3 SLC25A19 TUBGCP4 SMARCD2 PLEC TRMT10C TBCE PDE4D CREB3L1 PRUNE1 GSC BCL11B SPTBN4 SOX18 PIGN JAM3 DPH1 CHAMP1 NPHS1 LIPT2 PSAT1 DNM2 COX5A ALG9 ATN1 GFM1 ASCC1 GLS MBOAT7 PRKACA MTO1 CHAT RFWD3 SELENON TXN2 F13B ZNF335 POLE CHRNB1 HELLS BSND NKX2-1 EPS8 CNOT1 NDUFA2 RAPSN SYNE1 ABCD4 EGR2 FLT4 TRAPPC12 FAT4 NDUFAF3 CA8 ERGIC1 GLE1 KANK1 NUP88 ELP2 F13A1 NEK8 DVL1 SHMT2 CLPB COL7A1 ELP1 RNF13 HRAS MBTPS2 BRAF TOP3A ATP6V1B2 ARHGEF9 TPM2 AFF4 ERCC1 COASY KIF5C IARS1 LARS2 DNAL1 PTRH2 TBXT TUBA8 HPDL COQ7 CDCA7 CLCNKA POMGNT1 SNAP25 ATP5F1A CLCNKB CEP135 VLDLR PIGG KIFBP STIL BBS9 DMXL2 LAMC2 IGF1R PI4KA CNTNAP1 EP300 GPRASP2 NCAPG2 TUBB3 PDE6D SERPINE1 MRPS14 CHKB CHMP1A HDAC4 ATP11C MED25 PREPL SMC1A FUT8 MYSM1 POLR3A SLC2A10 ARL2 MYO7A MARS2 VPS35L KPTN MYH7 CCDC103 EED SSR4 ASPM MRPS16 CDK5 PLAA UROS NDE1 CHRND EBP PIGO BRPF1 SLC1A4 CDSN TPM3 LAMA2 ARL6 MOGS DNAAF3 VRK1 HOXB1 HPGD ATP8A2 SLC6A9 AP3B1 COL13A1 CD8A RSPH3 CDK10 B4GAT1 EXOSC3 AP1S1 TARS2 BCL11A MPC1 SLC16A2 HCN4 DONSON KATNIP RYR1 DSTYK ROBO3 CCDC88C SLC39A8 UQCC3 MECP2 AARS1 MMP1 CENPF CLP1 GSX2 YIF1B F2 CENPJ PRKACB KLF1 SLC12A2 PGAP2 TMEM231 PIGY NUP37 MFSD2A TRIM36 AP4M1 NUS1 TTN LGI4 SLC25A24 TSEN15 SLC25A4 CCND2 AP4S1 IER3IP1 MPDZ KRT14 RHOA TFAM TAF1 SREBF1 PSAP RARS2 IBA57 TUBB ITPR1 WDR4 HERC1 NALCN TOE1 DOCK2 CIB2 GREB1L ITGA6 STT3B PUF60 TASP1 CRB2 CIT EPG5 DCHS1 DPAGT1 HBG2 TBCK RMND1 KRT5 AP4E1 PLK4 ZBTB24 CHRNE MID2 LRP4 KIF5A DCPS MAP11 ZC4H2 PCLO ATP2B3 STAMBP PEX12 DPM2 OFD1 TSEN2 NDUFA4 SVIL HP_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADULT_ONSET LYST NUTM2B-AS1 SPG11 PDGFB DDX41 SEC63 CPOX PPARG SYNE1 HNRNPDL DNAJB11 CTSF PDGFRB COCH GGCX HLA-DRB1 FHL1 POLG PPP1R3A ABCC8 CP AKT2 M1AP RFC1 TNPO3 NF2 MARCHF6 PIK3CA AAGAB NEUROD1 SAMD12 AKT1 KCNJ11 AR BEAN1 TOP3A SPG7 CPT1C LAMA2 ANO5 WFS1 UBA1 LDB3 SLC4A11 DNMT1 MPZ UBQLN2 TERC DMD SMCHD1 TMEM43 TCF7L2 MAPT COQ2 MYORG TWNK SLC20A2 TNNI3 PSEN2 ARMC5 IRS2 POLG2 DYSF OSMR SDHAF2 PARN SCN10A EIF2AK4 TNRC6A ARHGEF10 MN1 BSCL2 CSF1R GPD2 F5 CFAP58 CYLD ALDH5A1 PSEN1 PLD3 TREX1 PAX4 ABCA4 ATL1 STIM1 PNKP KIF5A TFG IL6 PMVK EEF2 VCP TRPC3 SLC30A8 MTNR1B RNF170 CLN6 GDAP2 GSN HMGA1 GCK TTN DNAJC5 NOL3 NOTCH3 ERBB4 GBE1 DNAJB6 HNF1B RTEL1 VSX1 DRD5 SPRY2 CCDC88C MAGT1 FLNC APOE NAGA POLE EPAS1 MEFV GNE ANKH SUFU CEP78 FAT2 ENPP1 SLC25A4 DCTN1 PRKCSH TERT C1QBP C9orf72 HNF4A TAF1 AUH SLC2A2 RETN INF2 ACTG1 DGUOK MUC1 ZNF687 TGM6 XRCC2 SMARCE1 IL36RN TTR SMN1 CAPN3 XPR1 PDX1 ITPR1 POT1 STARD7 MATR3 WASHC5 VPS13D GBA IRS1 HNF1A MYOT TSC1 MME TNFAIP3 PRNP SH3BP2 SDHB PTEN SDHD PNPLA2 SNCA ATXN1 RAPGEF2 PARK7 HJV APTX DES LMNB1 SDHC MAPK8IP1 TTBK2 CAV3 CRYAB FMR1 FBXO7 DNAH8 PABPN1 LIPC ENO3 TBK1 TNFRSF13C MTOR CD164 IGF2BP2 HSPB1 CDH23 ATP1A3 PTPN1 GNAS GIPC1 DPM3 TIA1 BTNL2 TSC2 MED25 PRKN HP_LATE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET LIPC NEUROD1 KCNJ11 BEAN1 SLC2A2 RETN IRS2 IL6 PPARG SLC30A8 WFS1 MTNR1B LDB3 HMGA1 GCK IGF2BP2 GPD2 PPP1R3A PTPN1 PDX1 ENPP1 ABCC8 AKT2 HNF1B TCF7L2 IRS1 HNF1A MAPK8IP1 HNF4A APOE PAX4 AAGAB HP_INSIDIOUS_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSIDIOUS_ONSET EIF4G1 MPZ PMP22 OPA1 ATXN8OS SPAST SNCAIP SNCA ATXN2 WASHC5 ATL1 MAPT NIPA1 TBP GLUD2 NR4A2 ADH1C GBA HP_INFANTILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ONSET LYST TUFM PCK1 GPHN SCN9A MCOLN1 COX6A2 CHD3 IL6R IL2RG DHPS COL6A1 ADAR AP1S2 RORC FARSB CCDC115 BCS1L ACOX1 NCKAP1L MED13L NDUFA13 MYH7 VARS2 PAK1 CYP2R1 PRF1 SCNN1G TCF3 UPB1 FRMPD4 PSMB8 OTULIN SMPD1 GTPBP2 RPS19 PCDH15 CCT5 HAX1 AFG3L2 ERCC4 COX4I2 MTR SLC35A1 RPS26 GARS1 MRPS7 NLRC4 SACS SPR TBCE PIGP ADGRG1 GFI1B COG2 SPTAN1 QDPR GNB1 STXBP2 ATP8B1 LCK ADNP CHRND ADGRV1 LIPT1 TXN2 DYNC1I2 AIFM1 IKBKB RUSC2 COL6A3 CPLX1 SCN1A FKTN UVSSA WDR26 HIKESHI GPAA1 TTI2 POMT1 KRT86 KITLG ADD3 NLRP1 FRMD7 HERC2 IGLL1 PSPH CUX2 MAST1 MTFMT GRIK2 HSD17B10 NARS1 PSAT1 NARS2 SPECC1L HNF1A YME1L1 HIVEP2 NEB RPS28 GATA1 SIL1 HPDL NEMF PRX GFPT1 COX10 CHRNE GRIN1 TSHR GNAS PCDH12 FMN2 VPS45 SLC46A1 POMT2 RFT1 SELENON MVK CHD1 ABCB11 GABRG2 MRPS2 GRM1 CARD14 CARMIL2 CEP104 TMEM94 NDUFAF1 PDE10A SETD1A GJB2 DOCK8 POLG POMC WDR73 NLRP3 MUSK STAT3 ITPA KATNB1 AUH FGD4 EIF2AK3 ELANE PTS RETREG1 FZD4 CPT2 GCH1 SLURP1 DLAT GATM TBC1D24 NFKBIA IL36RN SLC5A6 ATP6AP2 SCNN1A FERMT3 TMEM67 AASS RASGRP2 LARGE1 PCDH19 PDP1 GJC2 SNX14 YWHAG L2HGDH C12orf57 SLC34A3 PIGK RYR1 CHRNA1 SFTPB MPV17 HSD17B4 YIF1B TSC1 TNFAIP3 KCNMA1 MLC1 AMMECR1 MMAA GABRB1 GDAP1 TRAPPC9 NDUFAF8 CXCR4 IDH3A CDKL5 TTN KDELR2 GPD1 SLC25A26 MACF1 GJB3 RNASEH2A PLEKHG2 MMACHC ARV1 RDX DAG1 EDC3 SCN3A DDX3X HCFC1 WDR81 NBAS CTNNB1 OPHN1 RNASET2 GEMIN4 BLNK ZAP70 VDR NR3C2 CARD11 TRNT1 CD247 BCORL1 PRMT7 TRAC IREB2 CD164 KRT81 SDHA SCN4A NTRK1 PDHA1 KCNQ2 IMPDH1 PIGT HEPACAM KIDINS220 LRPPRC ASXL2 SCNN1B S1PR2 ERCC8 PHKG2 NFE2L2 NDUFS4 PGAP3 CD3E DNAAF4 ATP6V0A4 DPAGT1 VPS37A JAK3 ACO2 ALG11 KCNB1 MYO5A TIMMDC1 NDUFB9 CAVIN1 DOCK7 MYMK RPSA FLNA PIK3R1 SCN2A CTC1 KIF1A VPS53 DDC RAB27A GAD1 SLC25A12 IL21 SI TUBB6 SLC6A5 CYB5A NDUFS2 RAG1 TRIOBP ADK SLC33A1 FOXRED1 ZNF462 ASH1L HIBCH GLRA1 RPL35A NKX6-2 ZSWIM6 ADAM22 NDUFV2 CD3D PTPRQ CAV1 ABCB4 ABCD3 MAGEL2 WDR45B AKT1 PNPLA8 LAMA3 JPH1 MRPS25 HYDIN GATAD2B NDUFB8 KCNH1 COQ6 IGHM SEPSECS IFT140 KCNA2 HNRNPU NDUFA10 SLC10A2 EEF1A2 POMK KDM5B PINK1 COX5A ERCC6 COL6A2 SLC6A3 PRKDC ZMIZ1 SLC2A1 FAM126A TCTN2 GLRB APC2 CORO1A EXT2 DCX NLRP12 ALDH5A1 NAGA PNP LMAN2L PET100 MMP2 ISCA1 TUBGCP2 BRAT1 PLP1 KCNJ10 SAR1B SNAP29 CA12 TRPM6 TRPA1 SARS2 BOLA3 DCDC2 ADAT3 DHX30 SASH1 GRID2 KRT83 ROR1 PNKD KCNT2 RAG2 AIMP2 STX11 CD59 SUCLG1 VAMP2 SPTBN2 DEAF1 MRPL44 PLA2G6 TLK2 PRDX1 ITGA7 UQCC2 ADSL SLC7A7 DNAAF5 PHIP CTDP1 PPP2CA LCA5 GFAP LRP5 WNK1 TBL1X EARS2 MEFV SLC35A2 SRD5A3 GABRB3 ZNF142 SLC6A8 ATPAF2 DARS1 COLQ NEUROD2 MIPEP DDOST JAG1 ALS2 ALG13 P4HTM TMTC3 SLC39A4 MFF ACTL6B NGF CLPX LMBRD1 SUCLA2 SOST SLC25A38 PMP22 GJA1 EPO ILDR1 CD79B TRMT1 RERE PMPCA MTX2 NDUFS1 TBR1 PSAP NUP214 NDUFV1 PTCHD1 PLCG2 MTRR HUWE1 MMADHC TRAPPC2L KLHL7 ACOX2 VPS33A CLIC5 RINT1 PLG TBX19 AGK ADA2 GRIN2D SYT1 VAMP1 PARN BCL10 HNMT HEXA METTL23 DLG4 TGM3 BRF1 TMX2 EGR2 SLC12A5 NGLY1 MTOR PUS3 TH MPZ TRIT1 PAX2 WAC KMT2E ACADSB GP6 MFN2 FOXP1 CAD RANBP2 TET2 RUBCN VARS1 SPEG CACNA2D2 SLC18A2 CWF19L1 TK2 ARFGEF2 EBF3 TSC2 DPM1 ATAD3A SVIL HP_MIDDLE_AGE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDDLE_AGE_ONSET MPZ UBA1 EIF2AK4 DRD5 PMVK APOE VCP PSEN2 SNCA HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY STAT4 FASLG TREX1 STING1 STAT1 FAS PTPN22 PRKCD ADA2 CTLA4 IRAK1 FCGR2A RASGRP1 DNASE1 SPP1 CASP10 FCGR2B HP_JUVENILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ONSET GLA MPZ SBF2 EXT2 PMP22 GNAS GALNT3 MAGT1 MFSD8 EIF2B1 CYBA CBLIF MEFV FXN CFI EIF2B4 PANK2 ACP5 SCN9A NDRG1 LITAF TNPO3 SPG11 STAT3 GALNS TREX1 SMPD1 NLRP3 LAMA2 CACNB4 MIEF2 SLC52A3 TRPV4 NLGN3 CCT5 EIF2B5 IL36RN LMNB2 DNM2 UMOD EMD RETREG1 NEFL HPDL ITPR1 PLP1 LMNA GAN CC2D1A TNNI3 ABCB7 NKX2-1 NPHS2 ADCY5 COX20 EGR2 TNFAIP3 PNPLA6 NCF2 NCF1 CLCN7 COL6A2 IDH3A PET117 NLGN4X EIF2AK4 SH3BP2 GLB1 ISCU ASAH1 BSCL2 EIF2B2 EXT1 ALDH5A1 APTX CHST6 HPCA ADA2 ATP7A MPV17 MMP2 EIF2B3 CASP10 DOK7 ABCA4 MYH9 TPP1 SLC19A3 NDUFAF6 SGCE GFPT1 TGFB1 CYBB CFH WARS1 TNFRSF4 SGCA NAGLU SGCB TACO1 DDHD1 CLDN16 CTNS ATP2B3 ALS2 TPM3 PYGM KCNA1 SLC12A3 ITK SVIL LDHA HP_NEONATAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ONSET LYST ASS1 HSPD1 NEUROG3 ATP6V0A4 ARL13B IL2RG GDAP1 IL1RN ARG1 NLRP3 ARHGDIA BRAF KCNJ11 CYP11B2 CARMIL2 NDUFAF4 TNNT1 ADA2 ACADS AVPR2 SCN9A KRT5 STAT3 STXBP1 SHMT2 CYP11B1 GAD1 AKR1D1 MMAB TRNT1 IRS4 ASL MCIDAS KCNQ2 CYP7B1 IL36RN STING1 SUCLG1 KRT14 AQP2 PIGU AMACR HPDL HSD3B7 EBF3 PIGP SLC1A2 OXCT1 SELENOI COX10 NLRC4 RYR1 LAMB2 HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS CIDEC CAV1 LMNA ZMPSTE24 PPARG PLIN1 LMNB2 LIPE HP_HEMOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOGLOBINURIA CFH PIGT PIEZO1 HELLPAR CD59 CASK CFI G6PD PIGA CD46 NT5C3A HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE PMM2 ALG13 ALG1 ALG6 DDOST PGM1 ALG3 SRD5A3 DPM3 DPM2 MAGT1 ALG11 SSR4 DPM1 MPI DPAGT1 HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME F2 F8 F5 PMM2 EFL1 GGCX KLKB1 F10 MCFD2 LMAN1 F11 F9 F12 GNE ALG12 DPM1 GATA6 HP_BICARBONATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICARBONATURIA ALDOB GATM OCRL EHHADH SLC34A1 NDUFAF6 HP_LACTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTICACIDURIA MT-ND4 MT-ND6 SUCLG1 GATM MT-TW MT-TL1 MT-ND3 LDHD MT-ATP6 MT-ND1 PET117 MT-TV MT-TK MT-ND2 NDUFB10 MT-ND5 SLC25A21 PDP1 HP_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOAM_CELLS LCAT NPC2 GLB1 SMPD1 SC5D NPC1 CSF2RA CSF2RB ASAH1 HP_HYPOMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETHIONINEMIA MTRR MTR MMADHC MMACHC MTHFR PRDX1 HP_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONSET LYST EXT2 PDHX TUFM WDR62 GPHN SCN9A GUCY2D MCOLN1 SYNE1 STT3A CHD3 IL6R DHPS COL6A1 COCH GGCX SCN5A HLA-DRB1 RORC CCDC115 BCS1L ACOX1 CFI BICD2 ACP5 AKT2 M1AP NEDD4L MRPS22 NF2 PAK1 NEUROD1 AKT1 NPC2 KCNJ11 BEAN1 PRF1 TOP3A NDUFB11 FRMPD4 MYL1 ANO5 WFS1 UBA1 PCDH15 CTSD ERCC4 ITGA8 LAMA3 HPDL RPS26 GARS1 TMEM43 TCF7L2 NLRC4 CC2D1A PIGP GFI1B MYORG ABCB7 NLRP3 PSEN2 SPTAN1 ASS1 POLG2 NCF2 CHAMP1 ATP8B1 DNM2 NLGN4X LCK GLB1 GLS MTO1 CHAT ADNP MN1 RFWD3 LIPT1 CSF1R TXN2 GPD2 POLE IKBKB RUSC2 COL6A3 NKX2-1 RAPSN CPLX1 SCN1A EGR2 CHST6 UVSSA PSEN1 FLT4 TREX1 KANK1 AVPR2 TTI2 POMT1 NEK8 DOK7 PAX4 BICC1 KITLG ATL1 CLPB PNKP FLG KIF5A RNF13 PMVK FRMD7 HRAS TRPC3 MBTPS2 SLC30A8 IGLL1 ATP6V1B2 CLN6 GSN MAST1 MTFMT CFH GCK PSAT1 NARS2 NOTCH3 KRT14 SPECC1L LARS2 HNF1A TBXT SGCA TACO1 NEB GBE1 SIL1 CTNS RTEL1 GFPT1 POMGNT1 COX10 CHRNE PIGG CCDC88C KIFBP GRIN1 PCDH12 MAGT1 VPS45 IGF1R SLC46A1 POMT2 SELENON GDAP1 MVK CBLIF SMPX NCAPG2 TUBB3 GNE GLUL ANKH CHMP1A CEP78 MPZ CARD14 CARMIL2 CEP104 DCTN1 PANK2 FUT8 GJB2 MARS2 POLG ACADS POMC MUSK C9orf72 MRPS16 KATNB1 AUH RETN EIF2AK3 GCH1 MUC1 LAMA2 SLURP1 HPGD DLAT TBC1D24 COL13A1 RSPH3 IL36RN SCNN1A FERMT3 TTN TMEM67 B4GAT1 EXOSC3 LARGE1 TARS2 AQP2 YWHAG MPC1 NEFL ITPR1 SLC16A2 L2HGDH FLVCR1 DONSON STARD7 C12orf57 SLC34A3 BIN1 PIGK PEPD CHRNA1 MPV17 KCNMA1 AMMECR1 PGAP2 PLEC MMAA GABRB1 TRAPPC9 TRIM36 NUS1 KDELR2 LGI4 SLC25A24 PTEN SLC25A4 PNPLA2 TAF1 MME RNASEH2A PLEKHG2 RAPGEF2 MMACHC NDUFAF4 ARV1 EDC3 SCN3A DES SDHC DDX3X HCFC1 WDR81 NBAS CAV3 CTNNB1 LACC1 OPHN1 CIB2 GEMIN4 BLNK VDR ENO3 TRNT1 CD247 TNFRSF13C PRMT7 IREB2 RPS29 CIT CD164 KCNQ2 EPG5 DCHS1 SDHA DPAGT1 F2 TBCK ATP1A3 IMPDH1 LRP4 HEPACAM KIDINS220 MAP11 CLDN16 ASXL2 TSEN2 F13A1 ERCC8 APOE SELENOI NFE2L2 NDUFA4 SLC12A3 PRKN MYH7 POLA1 ACTA1 NUTM2B-AS1 NDUFS4 PGAP3 DNAAF4 CPOX ATP6V0A4 VPS37A DNAJB11 JAK3 ACO2 KCNB1 CAVIN1 DOCK7 RPSA CSPP1 MKS1 FLNA SCN2A KIF1A VPS53 COA5 CP TNNT1 DDC POMK TUBGCP6 GAD1 DIAPH1 SLC25A12 MEFV IL21 TUBB6 RAG1 TRIOBP FARSA PIK3CA AAGAB AR CYP11B1 ITGB4 ADK CPT1C SLC33A1 ZNF462 ASH1L HIBCH TTC25 HK1 RPL35A LDB3 NKX6-2 PC ADAM22 NLGN3 ATAD1 CD3D PTPRQ EMD CAV1 WDR45B SLC34A2 SLC25A19 LMNA DMD JPH1 MRPS25 HYDIN ATP6AP2 MAPT GATAD2B NDUFB8 COQ6 TWNK HNRNPU LAMB2 NDUFA10 PNPLA6 SOX18 IRS2 DYSF PINK1 LIPT2 PARN COL6A2 ALG9 SPG21 PRKDC ZMIZ1 SLC2A1 FAM126A TCTN2 CYP11B2 GLRB APC2 STAT3 CNOT1 DYNC1H1 CYLD DCX ABCD4 NAGA PNP LMAN2L PET100 ERGIC1 PLP1 KCNJ10 SNAP29 TRPA1 STIM1 SARS2 BOLA3 VCP WT1 EEF1A2 ADAT3 SNRPN CYP26B1 DHX30 RNF170 KRT83 CYBB CYP7B1 GDAP2 PNKD KCNT2 COASY CD59 SUCLG1 PTRH2 DEAF1 MNS1 NAGLU SGCB MRPL44 CDCA7 HSD3B7 PLA2G6 TLK2 ITGA7 UQCC2 ADSL ATP5F1A SPRY2 CLCNKB SLC7A7 DNAAF5 PHIP PMP22 PPP2CA GALNT3 SPART SYNE2 TBL1X EARS2 SERPINE1 SLC35A2 CHKB FAT2 EIF2B4 ENPP1 PLEKHG5 SLC2A10 PRKCSH TERT COLQ NEUROD2 MIPEP ASPM TSEN54 PLAA P4HTM MMAB INF2 CHRND EBP MCIDAS TMTC3 MIEF2 ACTL6B TPM3 ZNF687 CLPX MOGS DNAAF3 TRPV4 ATP8A2 SMARCE1 CD8A SOST CDK10 LRP5 CAPN3 XPR1 CD79B HCN4 RYR1 MATR3 ROBO3 SLC39A8 PMPCA MTX2 TBR1 NPHS2 CENPF KIF1B CENPJ CHRNA4 PRKACB MFSD2A TRAPPC2L SDHB ISCU TSEN15 IER3IP1 ACOX2 FECH PRKAR1A CLIC5 RINT1 IBA57 PLG HJV HERC1 APTX LMNB1 HPCA ADA2 SYT1 NALCN VAMP1 TOE1 DOCK2 GREB1L FBXO7 PABPN1 MYOT METTL23 MYH9 BRF1 TBK1 SGCE SLC12A5 TACSTD2 CRB2 NGLY1 MTOR PUS3 TH TRIT1 PAX2 OCRL MFN2 HSPB1 HBG2 RANBP2 RMND1 CDH23 ZBTB24 TET2 PTPN1 RUBCN GNAS NPC1 GIPC1 SPEG FKRP PIGU FKTN DCPS SLC18A2 TIA1 PCLO TK2 ATP2B3 ARFGEF2 STAMBP TSC2 DPM1 HSPD1 DDX41 PCK1 ABHD12 PPARG TRIP4 ARL13B ELOVL4 COX6A2 NEXMIF IL2RG KIAA1109 ADAR PDGFRB TGFBR1 AP1S2 FARSB FHL1 FCSK NCKAP1L MED13L NRAS NDUFA13 ABCC8 TELO2 COL1A1 NDRG1 LITAF TNPO3 KRT5 VARS2 CYP2R1 SPG7 SCNN1G COL25A1 TCF3 UPB1 PSMB8 OTULIN SMPD1 GTPBP2 RPS19 MPDU1 CCT5 HAX1 PLCE1 SLC4A11 AFG3L2 COX4I2 DNMT1 MTR RETREG1 UBQLN2 KIF3B TUBGCP4 SLC35A1 SMARCD2 LIMS2 MRPS7 GAN SACS SPR TBCE PDE4D CREB3L1 PRUNE1 SLC1A2 ADGRG1 COQ2 SLC20A2 TNNI3 ADCY5 COG2 ALAS2 ARMC5 QDPR GNB1 STXBP2 NPHS1 OSMR SDHAF2 PET117 EIF2AK4 TNRC6A GFM1 MBOAT7 ADGRV1 DYNC1I2 EIF2B2 AIFM1 CHRNB1 HELLS CFAP58 EPS8 WDR26 HIKESHI GPAA1 PLD3 EIF2B3 KRT86 SHMT2 SLC5A7 ADD3 COL7A1 NLRP1 IL6 MECP2 TPP1 ASL HERC2 AIRE MTHFR BRAF ARHGEF9 PSPH CUX2 AFF4 TMPRSS3 HMGA1 GRIK2 HSD17B10 DNAJC5 ERCC1 NARS1 KIF5C IARS1 NOL3 DNAL1 YME1L1 HIVEP2 DDHD1 RPS28 GATA1 AMACR COQ7 HNF1B CLCNKA VSX1 NEMF DRD5 PRX SNAP25 CEP135 GLA SBF2 STIL TSHR FLNC FMN2 RFT1 PI4KA CNTNAP1 CHD1 ABCB11 GABRG2 GPRASP2 EPAS1 FXN MRPS14 MRPS2 GRM1 TMEM94 NDUFAF1 PDE10A SMC1A POLR3A ARL2 MYO7A SETD1A AAAS DOCK8 WDR73 C1QBP HNF4A KPTN XPC SPG11 ITPA SSR4 STXBP1 FGD4 ELANE PTS ACTG1 SLC1A4 FZD4 CPT2 ARL6 TGM6 VRK1 HOXB1 XRCC2 GATM NFKBIA SLC5A6 TTR AASS RASGRP2 AP1S1 HABP2 PCDH19 BCL11A PDP1 GJC2 SNX14 POT1 KATNIP WASHC5 DSTYK GBA IRS1 AARS1 SFTPB COX20 HSD17B4 YIF1B TSC1 TNFAIP3 PRNP MLC1 SLC12A2 TMEM231 NCF1 PIGY NDUFAF8 CXCR4 IDH3A PPT1 IL1RN CDKL5 GPD1 CCND2 ASAH1 SNCA SLC25A26 TFAM MACF1 GJB3 PSAP PARK7 RDX DAG1 EXT1 RNASET2 CRYAB DNAH8 ZAP70 NR3C2 CARD11 PUF60 BCORL1 SLC19A3 TRAC KRT81 SCN4A NTRK1 PDHA1 AP4E1 PLK4 TNFRSF4 MID2 PIGT LRPPRC PDE11A SCNN1B PEX12 S1PR2 MED25 PHKG2 KCNA1 PDGFB CD3E SEC63 NEUROG3 MFSD8 EIF2B1 TYR HNRNPDL C2CD3 LRTOMT CTSF ALG11 MYO5A TIMMDC1 NDUFB9 TMEM70 GMPPB LAMB3 ABCA3 MYMK NAA10 COG6 PPP1R3A PIK3R1 CTC1 BSCL2 RFC1 RAB27A VIM UFSP2 SI SLC6A5 CYB5A NDUFS2 MARCHF6 SAMD12 FOXRED1 GLRA1 CACNB4 MEGF10 COL1A2 SLC52A3 ZSWIM6 NDUFV2 IGF1 ARMC9 AP4B1 SCO2 LMNB2 UMOD USP18 ABCB4 ABCD3 MAGEL2 TERC PNPLA8 SMCHD1 CRB1 TRMT10C KCNH1 GSC OXCT1 IGHM SEPSECS COL9A2 IFT140 KCNA2 BCL11B SLC10A2 SPTBN4 PIGN KDM5B JAM3 DPH1 COX5A SCN10A ERCC6 ARG1 ARHGEF10 ATN1 SLC6A3 ASCC1 PRKACA CORO1A F13B ZNF335 BSND F5 NDUFA2 NLRP12 ALDH5A1 ATP7A TRAPPC12 MMP2 CHUK FAT4 NDUFAF3 CA8 ISCA1 TUBGCP2 GLE1 BRAT1 NUP88 ELP2 CASP10 SAR1B DVL1 ABCA4 CA12 TRPM6 AKR1D1 ELP1 TFG CFB EEF2 CNP NDUFAF6 DCDC2 MTNR1B SASH1 GRID2 TGFB1 ROR1 TPM2 RAG2 WARS1 AIMP2 STX11 VAMP2 SPTBN2 ERBB4 TUBA8 DNAJB6 PRDX1 LDHA SAMD9 VLDLR CTDP1 LCA5 GFAP BBS9 DMXL2 LAMC2 CYBA WNK1 EP300 PDE6D SRD5A3 GABRB3 COL9A1 SUFU ZNF142 PRPS1 SLC6A8 ATPAF2 HDAC4 ATP11C PREPL MYSM1 DARS1 VPS35L CCDC103 EED DDOST JAG1 GALNS CDK5 ALS2 SLC2A2 ALG13 UROS NDE1 PIGO CLCN1 BRPF1 SLC39A4 MFF CDSN DGUOK NGF SLC6A9 LMBRD1 AP3B1 COA8 SUCLA2 EIF2B5 SLC25A38 GJA1 SMN1 EPO PDX1 ILDR1 TRMT1 VPS13D RERE UQCC3 NDUFS1 MMP1 NUP214 CLP1 GSX2 NDUFV1 FRG1 CUBN PTCHD1 KLF1 PLCG2 NUP37 CLCN7 MTRR AP4M1 HUWE1 MMADHC SH3BP2 KLHL7 CYP3A4 ARHGDIA SDHD AP4S1 MPDZ VPS33A ATXN1 RHOA SREBF1 RARS2 TUBB TBX19 AGK WDR4 GRIN2D MAPK8IP1 TTBK2 FMR1 BCL10 HNMT LIPC ITGA6 HEXA STT3B DLG4 TGM3 IRS4 TMX2 TASP1 WAC KMT2E ACADSB GP6 IGF2BP2 FOXP1 CAD STING1 VARS1 CACNA2D2 DPM3 ZC4H2 CWF19L1 BTNL2 EBF3 DPM2 TIMM8A OFD1 PYGM ITK ATAD3A SVIL HP_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE KMT2B SPG11 SQSTM1 ACER3 ERLIN1 TNFRSF11B SMAD9 COL6A1 DNAJB11 CTSF SETX PDGFRB COCH LYRM7 NDUFB9 KIF5A NDUFS7 AP5Z1 CTC1 NUP133 VPS53 NDUFAF2 RTN2 POLR3A MAPT GLUD2 SGPL1 NUP107 POLG VCP NDUFA12 MECP2 PYCR2 TBC1D24 ADK MRPS34 SLC33A1 ISCA2 ATXN2 SBF1 GBA2 XRCC1 TJP2 SLC52A3 MARS1 PMPCB NKX6-2 PDGFB B4GALNT1 ATXN3 PLCE1 CACNA1A ATAD1 ANTXR2 ADH1C MOCS2 UMOD AFG3L2 COL4A3 SDHA DNMT1 ABCD3 RETREG1 BRAT1 UBQLN2 LMNA PKD2 ALDH18A1 WDR45B HPDL SNCA NEFH RNASEH1 AKT1 PNPLA8 MGME1 LIMS2 PDXK TBCE NALCN PRUNE1 SIGMAR1 OPA1 COQ2 MYORG SLC20A2 RBCK1 C19orf12 KCNC1 NUP160 PNPLA6 UBAP1 SOX18 POLG2 CFHR5 SEC61A1 TWNK PUM1 COL6A2 NUP85 SLC6A3 FTL DNM1L ADA2 CHRND MRE11 TXN2 AIFM1 COL6A3 FHL1 MAP2K1 AGTPBP1 SYNE1 FKTN POMGNT1 TRAPPC12 MPV17 CRAT SMN1 NUP93 TREX1 ISCA1 ELP2 HINT1 TUBB4A CERS1 ATL1 CLPB ASAH1 ELP1 ANO5 BSCL2 POLR3B TRPC3 DCDC2 WT1 INPP5K IRF2BPL MICOS13 ALS2 UBA5 FA2H KCTD7 INF2 AIMP2 SMN2 PTRH2 SGCA GOSR2 COQ8B VAC14 COASY SPRY2 PRDM8 GNAS MED17 PIEZO2 COL4A4 EPRS1 STUB1 MOCS1 KCNQ4 LMNB2 CYP7B1 NR4A2 GBA QARS1 EMC1 SLC39A14 MECR SLC25A4 PIK3R5 RNASEH2C KCNK3 DARS1 AAAS C12orf65 MAPKBP1 DDHD2 GPT2 VPS13C ZFYVE26 MFF NOP56 VRK1 SOST SLC44A4 ABCD1 FAN1 PRICKLE1 TTR MYO1E TTN XPR1 SPAST VPS13A DEGS1 CHCHD10 WASHC5 COPB2 TNFRSF11A SYNJ1 YARS2 CSF1R REPS1 ERLIN2 NDUFS1 HSPD1 NUP214 HK1 TRAK1 SLC52A2 AARS2 GNS KLC2 UCHL1 KCNT1 KIF1A TYMP MFSD2A DIABLO TRAPPC2L DRD3 TBP PLA2G6 TFAM ATXN8OS COL4A5 RARS2 IBA57 ASNS DMXL2 NAGLU FIG4 LMNB1 GRHL2 KCTD17 PABPN1 SLC12A6 PRKRA AIMP1 TBK1 SLC9A1 SNORD118 IREB2 PEX16 MTAP LAMB1 PCNA CAD SNCAIP RUBCN VARS1 DGKE PCLO TK2 NIPA1 STIM1 NBEAL2 EXOSC9 TRAPPC6B CCNO KIF1C DPM1 MYH14 RRM2B HP_SLOW_PROGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_PROGRESSION MPZ CCDC88C CLN8 PMP22 SLC25A4 KCNC3 FLNC ABHD12 DPAGT1 SYNE1 ELOVL5 TBC1D24 HNRNPDL TMEM240 LRRK2 SIGMAR1 AIFM1 WNK1 GRM1 GARS1 GYG1 MAP3K20 CHKB MYMK DARS2 PMP2 FAT2 DCTN1 PANK2 ACTN4 KIF1A NDUFA13 MYH7 PYROXD1 RFC1 COX6A1 VWA3B ACTA1 POGLUT1 SPG11 GJB1 DNM1L IGHMBP2 FZD6 MCM3AP AR ALS2 DAB1 CPT1C ALG14 MTMR14 LAMA2 RETREG1 PEX10 AFG3L2 TRIM32 ADSS1 GBA2 FZD4 SYT14 DZIP1L TGM6 NEFL BSCL2 B4GALNT1 ALG2 AP4B1 NLRP3 LRP5 TTN DNAJC6 EMD COL6A2 DYSF SMN1 VMA21 SLC34A2 ITPR1 FLVCR1 KCND3 HEPACAM TMEM43 GAN SURF1 RYR1 KY ERLIN2 MYOT PRKCG TEAD1 ALDH18A1 FBXO38 KIF1B CHCHD10 PEX2 LMNA FRG1 MARS1 MME SETX CLCN5 ATP6AP2 PDYN PINK1 COL6A3 PRX IBA57 DNAJB2 MAG LRP12 CRPPA C19orf12 CACNA1G SPG21 PNPLA2 GNB4 DNA2 PARK7 PDK3 DYNC1H1 FN1 HPCA ATP7A FARS2 MCM2 DNM2 PLD3 RNASET2 LRSAM1 PLP1 CRYAB POMT1 FBXO7 MTPAP KBTBD13 SLC5A7 FGF14 HSPB3 STIM1 TFG TPP1 MORC2 EEF2 PDE8B TENM4 MECP2 GDAP2 COA7 WARS1 HSPB1 TOR1AIP1 NOL3 SPTBN2 MYPN CFL2 REEP2 GBE1 DDHD1 DNAJB6 TIA1 CWF19L1 ATP1A1 COL6A1 ORAI1 SCN9A MFN2 HP_RAPIDLY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAPIDLY_PROGRESSIVE FHL1 PEX10 TARDBP SGCG MFSD8 DCTN1 NPHS1 HLA-DQB1 NHLRC1 DYSF PLEC BAG3 PNKP ARHGDIA LYRM7 GRN GDAP1 DNAJC6 DNAJC5 SNCA CSF1R PLEKHG5 NR1H4 SCARB2 NAXE ATP13A2 POLG PRNP PSEN1 CRYAB PLA2G6 COQ6 C9orf72 PANK2 SFTPB EPM2A NPHS2 HP_PACE_OF_PROGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PACE_OF_PROGRESSION ACER3 ABHD12 SYNE1 ERLIN1 TMEM240 TNFRSF11B COL6A1 AIFM1 SETX PDGFRB COCH LYRM7 KIF5A GYG1 NDUFS7 AP5Z1 NDUFA13 NDUFAF2 RTN2 ATP13A2 MAPT MYH7 YEATS2 VCP SCN8A NDUFA12 PYCR2 ISCA2 ATXN2 SBF1 GBA2 XRCC1 SYT14 PMPCB B4GALNT1 ATXN3 PLCE1 ANTXR2 ADH1C AFG3L2 DNMT1 RETREG1 BRAT1 UBQLN2 LMNA HPDL NEFH LIMS2 HEPACAM TMEM43 PDXK GAN TBCE SURF1 PRUNE1 CRYAB COQ2 MYORG SLC20A2 KCNC1 CLCN5 POLG2 SEC61A1 PRX NPHS1 TWNK DNAJB2 MAG NUP85 FTL DNM1L TBC1D24 CHRND MRE11 CSF1R TXN2 COL6A3 PDK3 MAP2K1 FKTN FN1 PSEN1 POMGNT1 NUP93 PMP22 PLD3 TREX1 POMT1 HINT1 SLC5A7 ATL1 CLPB ANO5 TPP1 MORC2 TRPC3 INPP5K IRF2BPL MICOS13 DYSF UBA5 COL4A3 TTN DNAJC5 NOL3 SGCA MYPN CFL2 GBE1 DDHD1 COQ8B PRNP GFPT1 PRDM8 CHRNE CCDC88C GNAS TARDBP MED17 PIEZO2 KCNC3 FLNC EPRS1 ELOVL5 SELENON NHLRC1 STUB1 MOCS1 LMNB2 NR4A2 TRPV4 MRPS2 MPZ GRM1 GARS1 PMP2 DCTN1 PANK2 AAAS POLG VWA3B POGLUT1 C9orf72 C12orf65 MAPKBP1 SPG11 GPT2 VPS13C MCM3AP DAB1 FHL1 MTMR14 PEX10 HLA-DQB1 FZD4 NOP56 TGM6 VRK1 HOXB1 PLEC ABCD1 FAN1 NLRP3 TTR ITPR1 FLVCR1 OPA1 STARD7 CHCHD10 WASHC5 TNFRSF11A SYNJ1 YARS2 REPS1 RYR1 SFTPB ALDH18A1 MPV17 HK1 TRAK1 SGCG KLC2 KCNT1 IBA57 TYMP LRP12 DIABLO CACNA1G ASAH1 PNPLA2 DNA2 SNCA TFAM MME PARK7 SCARB2 ASNS NAGLU FIG4 GRHL2 KCTD17 RNASET2 FGF14 SLC12A6 DYNC1H1 PRKRA AIMP1 SLC9A1 IREB2 TENM4 MTAP PCNA CLDN14 SNCAIP STIM1 ORAI1 NBEAL2 SCN9A EXOSC9 TRAPPC6B RRM2B KMT2B CLN8 SQSTM1 MFSD8 DPAGT1 HNRNPDL LRRK2 SMAD9 DNAJB11 CTSF NDUFB9 MYMK CTC1 KIF1A NUP133 VPS53 NAXE POLR3A RFC1 GLUD2 TUBB6 SGPL1 NUP107 MARCHF6 SAMD12 AR MECP2 ADK MRPS34 CPT1C SLC33A1 LAMA2 TRIM32 TJP2 SLC52A3 MARS1 NKX6-2 PDGFB ALG2 AP4B1 CACNA1A ATAD1 MOCS2 UMOD EMD SDHA ABCD3 PKD2 WDR45B SLC34A2 NR1H4 RNASEH1 AKT1 PNPLA8 MGME1 NALCN SIGMAR1 COQ6 PRKCG FBXO38 RBCK1 C19orf12 NUP160 PNPLA6 UBAP1 SOX18 PDYN KRT12 CFHR5 PINK1 PUM1 CRPPA COL6A2 ATN1 SLC6A3 PNKP SPG21 ADA2 GNB4 ATG5 AGTPBP1 ATP7A FARS2 TRAPPC12 CRAT SMN1 PLA2G6 DNM2 ISCA1 PLP1 ELP2 TUBB4A CERS1 HSPB3 ELP1 TFG EEF2 BSCL2 POLR3B DCDC2 WT1 ALS2 GDAP2 FA2H KCTD7 WARS1 INF2 AIMP2 SMN2 SPTBN2 PTRH2 REEP2 DNAJB6 GOSR2 ATP1A1 VAC14 COASY MFN2 SPRY2 VLDLR SLC25A4 COL4A4 BAG3 WNK1 KCNQ4 CYP7B1 GDAP1 GBA MAP3K20 CHKB QARS1 DARS2 EMC1 SLC39A14 FAT2 MECR PIK3R5 RNASEH2C PLEKHG5 ACTN4 KCNK3 DARS1 PDE10A PYROXD1 COX6A1 ACTA1 DDHD2 GJB1 IGHMBP2 FZD6 ZFYVE26 ALG14 MFF ADSS1 DZIP1L NEFL SOST SLC44A4 PRICKLE1 LRP5 DNAJC6 MYO1E XPR1 SPAST VMA21 VPS13A ILDR1 DEGS1 COPB2 KCND3 PMPCA KY ERLIN2 MYOT NDUFS1 TEAD1 NPHS2 HSPD1 KIF1B NUP214 PEX2 FRG1 SLC52A2 AARS2 ATP6AP2 GNS UCHL1 MFSD2A TRAPPC2L DRD3 TBP ARHGDIA ATXN8OS COL4A5 RARS2 DMXL2 LMNB1 HPCA MCM2 EPM2A LRSAM1 FBXO7 MTPAP PABPN1 KBTBD13 TBK1 PDE8B SNORD118 PEX16 LAMB1 GRN COA7 HSPB1 CAD TOR1AIP1 RUBCN VARS1 DGKE TIA1 CWF19L1 PCLO TK2 ATP2B3 NIPA1 CCNO KIF1C DPM1 MYH14 HP_NONPROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE VLDLR CHRNE SAMD12 KRT12 SELENON HOXB1 ATN1 COL4A3 COL4A4 CLDN14 TRPV4 MRPS2 ATG5 ILDR1 STARD7 PDE10A CWF19L1 ATP2B3 PMPCA YEATS2 RYR1 GFPT1 TUBB6 MARCHF6 SCN8A HP_LARGE_BEAKED_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BEAKED_NOSE RNASEH2B ADAR XRCC4 SAMHD1 RNASEH2C CENPT POLR3A CEP152 LIG4 RNASEH2A TREX1 ASPH IFIH1 ERCC2 HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS DPM3 ACTA1 MTMR14 TRIP4 DNM2 TRIM32 POMT1 TPM3 TTN TPM2 MYH7 MYF6 SELENON BVES ORAI1 RYR1 BIN1 STIM1 SIL1 SYNE1 HNRNPA2B1 SPEG CCDC78 MICU1 CASQ1 FXR1 TNPO3 HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS POLG TK2 COX6B1 POLG2 COX6A2 MIEF2 TYMP TWNK SURF1 PUS1 COA8 COA3 TRMU SLC25A4 ETHE1 MT-TE TACO1 RRM2B MT-TN NDUFA4 COX10 HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS POLG TWNK POLG2 SLC25A4 RRM2B TYMP HP_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MUSCLE_WEAKNESS LYST SPG11 REEP1 VCP MAPT CHRND TMEM43 BSCL2 SMARCE1 MFN2 CPOX TRPV4 TPM3 KIF5A TRIM32 GARS1 FHL1 EXTL3 MTMR14 AP5Z1 KY ATL1 BTD RTN2 TPM2 MT-ATP6 CHRNB1 SLC33A1 RAI1 CRYAB TIA1 DGUOK CAPN1 AR SPG7 COL13A1 LAMA2 SBF1 SORD GBA2 SPART NEB MYH7 MYF6 TDP1 MPZ ALDH18A1 AGRN MYPN SPAST RYR1 DES MTHFR NEFL NEFH SMCHD1 SYT2 GMPPB BAP1 TBCE HARS1 SIGMAR1 CHRNA1 POPDC3 SMARCB1 FBXO38 LMNA TYMP LIPE PLEC POLG2 ANO5 DYSF TTN ADAR PRX AMPD3 TRIP4 DNAJB2 CHRNE TWNK GABRA3 POLG ZFYVE27 SCN4A GDAP1 GALC SPG21 FLI1 HSPB1 PDGFB KCNJ10 FAM126A PIGN GNE SNAP25 LBR HADHB DYNC1H1 EGR2 YARS1 SACS SYNE1 POU3F4 HINT1 MPV17 LMOD3 SLC5A7 NUP62 EMD CHCHD10 ADSS1 HSPB3 GYG1 AKT1 MORC2 SYNE2 DNM2 CHAT KCNJ18 LDB3 C12orf65 CFL2 SCO2 INF2 RNASEH1 CD59 HADHA MYOT BIN1 SCYL1 DDHD1 ACTA1 L1CAM SH3TC2 ATP1A1 NF2 SLC18A3 ACTN2 SMO AK9 MUSK SBF2 VAMP1 PMP22 PNPLA6 TRAF7 TERT PIEZO2 SLC25A1 ASAH1 RASA1 CYP7B1 IBA57 SQSTM1 KARS1 MME PDK3 DCTN1 RRM2B DSTYK COX6A1 COLQ POGLUT1 SARDH DDHD2 IGHMBP2 MCM3AP ACOX1 ZFYVE26 FGD4 RAB7A DMXL2 GAN HK1 ABCD1 SGCG KBTBD13 NF1 VMA21 VPS13A SUFU RAPSN PLP1 WASHC5 CACNA1S TCAP ERLIN2 HSPD1 KIF1B SMN1 COX20 MARS1 SLC52A2 KLHL41 DMPK LRP4 PNKP HSPB8 LRP12 CPT1C FA2H CAPN3 PEX7 CAV1 LRSAM1 SLC25A21 DOK7 PABPN1 MYO9A SLC12A6 GJB1 HMBS POMT1 MTAP FLNC VHL COA7 BVES KIF1A AMPD1 ATP7B MTTP PNPLA2 PIK3CA TK2 MYH14 PHYH NIPA1 CRPPA ORAI1 PRNP AARS1 PLOD1 SLC25A4 PPOX AFG3L2 HP_SCAPULAR_WINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPULAR_WINGING MYBPC1 DNM1L VCP PAX3 TMEM43 TRPS1 TRPV4 ALG2 TTN SEPTIN9 ATP6V0A2 GMPPB FHL1 ACTA1 PYROXD1 RYR1 TPM3 TK2 POGLUT1 TNPO3 MAP3K20 FLNA POLG SQSTM1 NEB PAX1 POMT2 MYH7 BICD2 CUL7 SGCG KBTBD13 HACD1 CAPN3 ALG14 SMCHD1 BIN1 COLQ SPEG BRAF PTPN11 LMNA FRG1 C19orf12 GFPT1 KLHL41 ANO5 MYL2 DPAGT1 ITGA7 CRPPA LGI4 OBSL1 GNE KCNJ2 MYH2 LAMB2 EYA1 FLNB OPA1 EMD SYNE2 MYPN SGCA CCDC8 SGCD SELENON TPM2 DYSF RAF1 SGCB SYNE1 CSGALNACT1 COL12A1 HP_DISTAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_AMYOTROPHY SPG11 REEP1 VCP ABHD12 BSCL2 MFN2 SETX MAG TRPV4 GARS1 ATL1 NDRG1 KANSL1 LITAF SOX10 RAI1 FUS TIA1 KIF1A SPART SLC52A3 FLRT1 B4GALNT1 CCT5 ATXN3 DNM2 TDP1 MSTO1 MPZ SPAST NEFL VPS13A NDUFA9 SYT2 JPH1 DCAF8 KIF5A GAN SACS TBCE HARS1 SIGMAR1 LMNA KDM5C C19orf12 PNPLA6 SPTBN4 ANG DYSF FXN MYOT GDAP1 HSPB1 MRE11 SNAP25 SDHAF1 EGR2 YARS1 SDHA ATP7A PTRH2 HINT1 MPV17 PMP22 SLC5A7 DOK7 ADSS1 FLNC PNKP CHAT ALS2 LDB3 C12orf65 CPLANE1 AGRN INF2 KLHL9 PLOD3 AGL ATXN2 RYR1 CEP126 SH3TC2 YY1 NEMF TPM3 HSPB8 PRX SLC18A3 COASY ACTN2 SBF2 VAMP1 KIF1C SLC25A1 SDHD GNE IBA57 SQSTM1 MME PRPS1 FBLN5 COL13A1 PDK3 DCTN1 PLEKHG5 CUL4B ACTA1 STUB1 GJB1 ZFYVE26 FGD4 ANO5 PEX10 RAB7A HK1 SVBP IGHMBP2 ZBTB20 BICD2 VPS13D TCAP KIF1B ABCA1 MATR3 DMPK KLC2 TYMP LRP12 CAV3 ASAH1 CPT1C ATXN1 GBA2 POLG APTX CHP1 LRSAM1 SLC25A21 MTMR2 MYO9A SLC39A13 TFG NGLY1 COA7 ZC4H2 SDHB MT-TE MORC2 MED25 MYH14 ATAD3A AFG3L2 HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS SCN4A DES CACNA1S GABRA3 KCNJ18 KCNE3 CRYAB HP_DIFFICULTY_STANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_STANDING VDR CYP2R1 FAR1 KY MYOT SMS GRM1 GPAA1 TFG WARS2 CYP27B1 SLC34A3 ATP2B3 TK2 DYSF TBCE ABCC8 HP_GENERALIZED_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYOTROPHY TARDBP MST1 SPTBN4 SLC52A2 RAPSN KLHL41 VCP SQSTM1 GMPPB DOK7 PEX5 TRIP4 SELENON ACTA1 LMNA COL6A1 COL6A2 BAG3 PUS1 LMNB2 TPM3 TBK1 TTN DNA2 CHCHD10 POLG MUSK COL6A3 POLR3A LAMP2 FUS PYROXD1 TPM2 NAGA CARS1 VAMP1 RYR1 COL12A1 HNRNPA2B1 SLC18A3 DNAJC19 MYH7 NUP88 MYOD1 WARS2 MYPN POMT1 SGCD LEMD3 MGME1 NEB PGAP1 ACADSB C9orf72 SCO2 KBTBD13 DALRD3 PNPLA6 DARS2 SLC16A2 RBM28 SCYL1 PNPLA2 YARS2 TK2 BIN1 SPEG TCF4 HNRNPA1 GPR35 ALDH18A1 HP_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS ACTA1 NUTM2B-AS1 VCP SQSTM1 FKRP DPAGT1 CHRND TMEM43 COL6A1 MFN2 CPOX TRPV4 TPM3 ALG2 TRIM32 HNRNPA1 CAVIN1 FHL1 MTMR14 POLG KY BTNL2 SELENON ACTN2 FUS FLAD1 TPM2 MYH7 TK2 CHRNB1 CRYAB PRKACA TOP3A TNXB CPT1C COL13A1 COL6A3 LAMA2 SLC5A7 SORD AGRN SLC52A3 LDB3 ORAI1 PYGM MYF6 SYT2 MYPN CNBP RYR1 NEFH PNPLA8 JPH1 GMPPB GAN SPEG COL6A2 CHRNA1 POPDC3 TWNK MSTO1 FBXO38 RBCK1 LIPE GFPT1 PLEC POMK ANO5 TTN DAG1 KCNE3 LMNA CHRNE MYOT GABRA3 SCN4A TBK1 TRAPPC11 PIGN CHCHD10 SNAP25 MYH2 SDHAF1 DMD LAMP2 DYNC1H1 RAPSN VAPB SYNE1 FKTN SDHA POMGNT1 GAA SMN1 DNM2 OAT POLG2 EMD DOK7 ADSS1 COL12A1 COQ8A ABHD5 FLNC STIM1 TFG MORC2 POMGNT2 SYNE2 INPP5K HLA-DRB1 SGCA CHAT KCNJ18 SIGMAR1 SMN2 NARS2 BIN1 MT-ATP6 CFL2 NEB DNAJB6 CASQ1 FXR1 SLC18A3 MYBPC1 AK9 MUSK VAMP1 POMT2 SLC25A1 SDHD MAP3K20 CHKB REEP1 OPA1 PLEKHG5 RRM2B PYROXD1 ALS2 MT-TL1 POGLUT1 IGHMBP2 MT-TL2 GDAP1 DGUOK DMXL2 NEFL HK1 GATM BICD2 SGCG LARGE1 DYSF CAPN3 VMA21 ACBD5 ALG14 CACNA1S DNA2 COLQ TCAP LTBP4 TARDBP DMPK LRP4 LRP12 MT-TN ASAH1 PNPLA2 ACADM SGCB LAMB2 DES SPG11 COL9A3 SLC25A21 PABPN1 MTMR2 MYO9A HNRNPA2B1 HMBS POMT1 MTAP SGCD MICU1 C9orf72 BVES ATP7B SDHB TRDN DPM3 MYH14 MT-TE CRPPA SLC25A4 PPOX HP_CALF_MUSCLE_PSEUDOHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY DMD SGCG FKRP DAG1 ANO5 SGCB POMT2 POMK POMT1 TRIM32 SGCA CAV3 CRPPA POMGNT1 GMPPB MYH7 PPARG HP_EXERCISE_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS PGAM2 SLC16A1 CAV3 CPT2 PGK1 LAMP2 LAMA2 PYGL HINT1 PYGM PFKM HP_SKELETAL_MUSCLE_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_HYPERTROPHY KCNMA1 CLIP2 PPARG FKRP TPO WNT5A AGA TSHB ATRX SCN4A SLC5A5 ABCC9 NKX2-1 CAVIN1 MTMR14 ACTA1 MED13L GMPPB VPS33A FIBP SEC23B PLIN1 MAP3K20 IDS PIK3CA ZBTB24 TG PLAGL1 AR HEXB THRA DUOX2 PSMB8 MEG3 LAMA2 ANO5 ZEB2 GTF2IRD1 HSPG2 DLK1 ARID1A GTF2I SETBP1 USF3 POMT2 HYMAI DNMT3B MYF6 KLLN RFC2 RYR1 TBCK PMP22 BSCL2 TRAF3IP2 FUCA1 LIMS2 POPDC3 PEX1 IFT140 PAX8 GPC3 FDX2 LIPE MAN2B1 PLEC TBL2 TTN SHOX DAG1 ITGA7 SNX14 ACTB GPC4 CRPPA GPR101 TSHR SMAD4 ERLIN2 INPP5E ZFP57 SDHD PIGW FOXG1 DMD POMK INSR ATP6V1B2 FKTN AKT1 POMGNT1 GAA DNM2 PRKAG2 SMARCB1 MSTN KCNA1 IDUA HRAS LIMK1 DUOXA2 EHMT1 POMGNT2 GATA1 CCDC47 SELENON FTO SNIP1 PTEN CDKN1C ROR2 BIN1 LMNA SGCA MT-TE TPM2 CLCN1 SMARCA4 NKX2-5 CAV3 AIP GNPTAB RASA1 PQBP1 HNRNPK POMT1 IYD CUL4B RNF125 SLC26A4 PRPS1 LARGE1 MPZ IL6ST RTL1 IGF2 CAV1 SLC25A1 CIDEC PIGS AMPD2 POU1F1 KCNN3 SGCG KCNH1 HACD1 POLR3A UBE3A SDHC TCAP AGPAT2 DYSF LTBP4 SRY TRHR CHCHD10 FRG1 CDCA7 TPM3 MYL2 DPM3 CIZ1 KCNJ11 SGCB FHL1 DVL1 FOXE1 CAPN3 AFF4 BAZ1B SDHB ELN FOS DHX16 KCNQ1 ABCC8 KCNQ1OT1 SGCD POP1 TRMU ARSB PIK3C2A HELLS HP_MUSCLE_FIBER_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_NECROSIS POLG COL6A1 COL6A2 POPDC3 SGCG TWNK COL6A3 ACTA1 DHX16 HP_MYOFIBRILLAR_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOFIBRILLAR_MYOPATHY KLHL40 LDB3 DNAJB6 BAG3 MYOT ACTA1 FLNC CFL2 AKT1 TTN PTEN FHL1 HP_NECK_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_FLEXOR_WEAKNESS AK9 MYOT MUSK CHRNA1 GYG1 DMPK TTN LRP4 COL13A1 LAMA2 TRIM32 CHRNE CHRND SIGMAR1 CFL2 SCN4A KLHL41 SGCG RNASEH1 NEB DYSF AGRN CNBP DES RAPSN RRM2B TPM2 ACTA1 ALS2 SPG11 CHRNB1 CHCHD10 LMOD3 DOK7 FUS KBTBD13 HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY ACTB FRG1 GNE TRPV4 TPM3 DES VCP SGCB FKRP MYH7 TRIM32 HP_QUADRICEPS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_QUADRICEPS_MUSCLE_WEAKNESS POLG MFN2 DYSF POLG2 TTN SLC25A4 TWNK RRM2B ADSS1 TRIM32 HP_AUTOPHAGIC_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOPHAGIC_VACUOLES LRP12 LDB3 MYOT ACTA1 TNPO3 CRYAB ACTN2 HP_MITOCHONDRIAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_MYOPATHY NDUFA11 POLG MT-ND4 NDUFS4 TK2 NDUFB9 MT-TW NDUFAF1 MT-TC MT-TS2 TYMP MT-ND1 NDUFAF4 MT-CYB MT-TL1 MT-TT ISCU PUS1 NDUFS7 MT-CO3 TIMMDC1 NDUFAF2 NDUFV1 FOXRED1 NDUFS6 AGK RRM2B MT-TV NDUFA1 TMEM126B POLG2 MT-ND5 TWNK MT-TQ MT-ND3 MT-ND6 MT-TF NDUFAF5 NDUFS1 MT-ATP6 NDUFS8 NDUFAF3 DGUOK NDUFS3 MT-CO2 MT-ND2 NDUFAF8 NDUFB11 NDUFB3 NDUFB10 CAV3 NDUFA6 MT-CO1 PNPLA8 DNA2 YARS2 NUBPL MT-TK NDUFV2 MSTO1 FDX2 NDUFS2 SLC25A4 HP_EXERCISE_INDUCED_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYALGIA PHKA1 MATR3 PGAM2 STIM1 ANO5 LMNA AMPD3 DNM2 TRIM32 PGK1 AMPD1 FLNC PYGM RNASEH1 MYF6 MTMR14 ACADM RYR1 BIN1 CPT2 RRM2B ACADVL DYSF CAV3 HP_MYOCLONIC_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SPASMS INPP5E TXN2 STX16 BRAT1 GNAS BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SLC1A4 MOCS1 SMARCE1 MT-ATP6 SMARCB1 PDGFB SMO MOCS2 HP_CONGENITAL_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_DYSTROPHY COL12A1 FKTN POMT2 FKRP MYH7 GMPPB SELENON LAMA2 POMT1 LMNA COL6A1 COL6A2 POMGNT1 CHKB LARGE1 COL6A3 POMK ITGA7 CRPPA TTN HP_GENETIC_ANTICIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENETIC_ANTICIPATION ATXN1 SPAST ATXN10 ATXN3 ATXN7 ATN1 ALDH18A1 CACNA1A TERT ATXN2 HP_SPORADIC http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPORADIC HNF1B PSEN1 GJA5 FLCN FOXG1 NIPBL FLNB JAK2 EP300 SHANK3 NR4A2 SIN3A HLA-DRB1 FGFR1 GBA GNAS-AS1 NRAS LETM1 MKRN3 SPECC1L MYC SNORD115-1 MAPT PDGFRA SUMO1 GLUD2 GNAQ SDHB GJA8 PCSK1 CPLX1 HNF1A NSD1 SKI ATXN2 VHL NSD2 NLGN3 LMNB2 ADH1C RB1 RPS14 UBE3A AKT1 ZBTB20 GLI2 RAI1 NFIA SEMA3E RPS6KA3 COQ2 OGG1 HRAS ALDH18A1 STX16 KCNJ18 TSC1 KRAS SDHC GNAS PIK3CA CDON PAFAH1B1 NLGN4X TBP CTBP1 ADA2 PWRN1 MEF2C RNF139 IRF6 CHD7 FGFRL1 TINF2 ATXN8OS HERC2 MAP2K1 CREBBP NDN ALX3 TOE1 PWAR1 KIT TUBB4A PTDSS1 EHMT1 KIF1B SNRPN GATA1 SIX3 MTOR CACNA1S IGF2 TSHR ACAT2 NFIX SNCAIP MAGEL2 NPAP1 TSC2 DRD5 SNORD116-1 HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS DGUOK AK9 MUSK CHRNA1 PLEC DMPK VCP ANO5 LRP4 COL13A1 FKRP HNRNPDL TRIM32 CHRNE CHRND SCN4A FLNC DPM3 TTN GNE SGCB MYOT AGRN RAPSN PNPLA2 SMCHD1 DNAJB6 MT-TE RYR1 CHRNB1 DYSF TNPO3 DOK7 HP_INCREASED_MUSCLE_FATIGUABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_FATIGUABILITY SLC16A1 AMPD1 CAV3 GATA6 DBH DMGDH TRAPPC11 CRELD1 RRM2B KCNE3 GATA4 CACNA1S AMPD3 SCN4A SERPINA6 GABRA3 KCNJ18 PGK1 STIM1 NR2F2 HP_EPISODIC_FLACCID_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_FLACCID_WEAKNESS SCN4A CACNA1S GABRA3 KCNJ18 KCNE3 HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS ACTA1 SELENON TPM3 TPM2 MYH7 RYR1 HP_SKELETAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MYOPATHY SDHA MT-TE HADHA SDHB TAZ SDHAF1 HADHB SDHD COMP HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE SOX18 ERCC6 KCNK9 SKI IGF1R FBN1 BSCL2 PTF1A FH TOP3A ZMPSTE24 RBM28 TGFB1 SLC25A24 CAV1 NAA10 LMNA POLR3A INSR ATP6V1E1 PPARG PLIN1 AGPAT2 SLC2A2 ERCC8 HP_CALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCINOSIS AGXT CASR GNAS RECQL4 GALNT3 ZMPSTE24 ANAPC1 LMNA SAMD9 GEMIN4 LBR HP_UTERUS_DIDELPHYS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UTERUS_DIDELPHYS WDR35 DYNC2H1 PPP1R12A AXIN1 INTU GATA3 DYNC2I1 HOXA13 IFT80 DYNC2I2 HP_BRUXISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUXISM CDKL5 MECP2 SHANK3 PGAP3 CNTNAP2 ANK3 HTT NRXN1 FOXG1 DHX30 NTNG2 ZEB2 HNRNPK SHROOM4 GABBR2 VPS13A CERT1 KIF15 HP_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEVUS CLIP2 PUF60 TYRP1 ERCC3 TP63 WNT5A PRKAR1A SUZ12 RBM8A OCA2 BRAF RRAS2 NRAS RASA2 FGFR2 TEK GNAQ NXN PIK3CA MED25 XPC DDB2 SMC3 TSC2 TERT RAF1 BAP1 ASXL1 FGFR1 SEC23B KANSL1 CDKN2B EED DIS3L2 CYP1B1 SLC45A2 MYOC ERCC5 PTCH1 IFNG PTPN11 IGF2 KRAS GTF2IRD1 CYP26C1 LEMD3 GTF2I CHRNA7 ACD RBM28 TSC1 PTEN USF3 CDK10 ARL6IP6 ERF KLLN RFC2 HRAS SLC25A24 AKT1 PTCH2 CDK4 CDH3 SDHC HPS1 SOS2 PDE4D TBL2 MC1R PCGF2 TRIM37 A2ML1 PLP1 NEK9 ERCC2 CDC42 HDAC8 MITF SOS1 FGFR3 ROR2 SDHD LTBP2 DVL1 TNFRSF11B CDKN2A PUS3 DVL3 MPL SUFU RRAS XPA TYR BAZ1B SDHB LIMK1 ELN H19 POT1 TASP1 RIT1 MSL3 TNFRSF11A KCNQ1 MYH3 KCNQ1OT1 H1-4 LZTR1 TERF2IP MGMT CDKN1C ERCC4 COL3A1 MRAS FZD2 SMARCAL1 KLHL7 FKBP10 CBL ASXL2 COL7A1 CHRNG HP_PSORIASIFORM_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSORIASIFORM_DERMATITIS TP63 PIK3CD SLC29A3 NFKB2 MSMO1 IRF2BP2 DSG1 FOXP3 HLA-C EGFR IL36RN CACNA1G HLA-DRB1 CTLA4 FLI1 HLA-DQB1 IL2RA TTC7A ADAM17 KNSTRN AP1S3 HLA-B CARD14 GATA3 LIG4 HP_PERIODIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_PARALYSIS SCN4A FAH CA2 ABCB6 KCNJ2 CDH23 KCNE3 CACNA1S SLC4A1 GABRA3 KCNJ18 HP_PULP_STONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULP_STONES COL5A2 GALNT3 COL1A1 FGF3 COL5A1 DSPP HP_STAGE_5_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE SLC7A7 NOD2 IFT43 TBC1D8B COL4A4 NPHP1 TTC21B HNF1B DNAJB11 MYOCD TP53RK MEFV ALMS1 CTNS TRAF3IP1 ACTN4 TSC2 NUP133 BNC2 DZIP1L NUP205 MAPKBP1 SGPL1 NUP107 APRT JAG1 INF2 LAMB2 AGXT PAX2 CEP290 MUC1 AVIL GSN TMEM67 CD151 FAN1 PLCE1 PKHD1 COL4A3 MAGI2 CC2D2A PKD2 WDR19 DSTYK IQCB1 NEK8 NPHP3 LZTFL1 DCDC2 AHI1 NPHS2 IFT140 MMUT COL4A6 APOL1 PKD1 CFHR5 INVS GATM PRKCD WT1 NUP85 CEP164 OSGEP TPRKB XPNPEP3 TMEM126B SLC34A1 NDUFAF6 COL4A5 TSC1 NPHP4 BICC1 RAD51C FN1 TRPC6 NUP93 GLIS2 GANAB UMOD TMEM231 SDCCAG8 LAGE3 CEP83 CPT2 DGKE COQ8B EHHADH ANLN SPRY2 HP_PILI_TORTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_TORTI BCS1L PEX6 NECTIN1 CDH3 NECTIN4 DSG4 HEPHL1 KRT85 HR LMNA PEX1 ST14 WRN HP_EXCESSIVE_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_SALIVATION ATP6AP2 NRXN1 PAK3 FBLN1 FOXG1 AP4M1 SPART STRADA EIF2S3 ATRX TUBB2B DMD ZNF81 PMP22 SLC9A6 GDI1 EXTL3 ATP7B GPT2 PDE10A KIF15 POLR3A SYP MECP2 ATP10A GABRG2 MID2 PTS ARHGEF6 ZEB2 FOXP2 NTNG2 RPS6KA3 GCH1 AGTR2 ZNF711 DLAT UBE3A ZC4H2 AP4E1 AP4S1 HERC1 MEG3 SNRPN CNKSR2 SCN1A PRPS1 GFM2 VPS13A SLC16A2 GRIN2A SRPX2 RTL1 AP4B1 SCN1B TANGO2 DLG3 POU3F3 CLCN4 ALG13 SATB2 GNS PCGF2 QDPR ZNF41 PCDH19 PTCHD1 PLA2G6 UPF3B TSPAN7 RAB39B DEAF1 GABBR2 SETD5 SLC9A7 USP9X FRMPD4 TH IQSEC2 ADGRG1 USP27X ARX CXorf56 HLA-B SHMT2 CNTNAP2 STXBP1 BCORL1 TASP1 POLR3B SLC12A5 ALS2 GABRA1 MED12 SCN2A PI4KA FOXP1 ACSL4 ATP1A3 IL1RAPL1 FTSJ1 OCA2 CERT1 HCFC1 HPDL DLK1 VAC14 IKZF1 ZBTB11 MRE11 SCN9A HP_EUNUCHOID_HABITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EUNUCHOID_HABITUS FGF8 NSMF GNRH1 ESR2 SPRY4 KISS1R TAC3 TUBB4A HS6ST1 FGF17 CYP19A1 CHD7 PROK2 ANOS1 PROKR2 TACR3 WDR11 KISS1 FGFR1 GNRHR DUSP6 HP_DECREASED_CSF_HOMOVANILLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CSF_HOMOVANILLIC_ACID DDC PNPO TH GCH1 NGLY1 HP_MINICORE_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINICORE_MYOPATHY RYR1 MYH7 SELENON FXR1 CFL2 TRIP4 HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN SORL1 TREM2 ABCA7 TOMM40 DYSF PSEN1 GNE PSEN2 APP HP_SHORT_MIDDLE_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_TOE FGFR3 TRPV4 FGFR1 FGFR2 HOXD13 HP_LIMB_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_ATROPHY DGUOK ACTB FRG1 ANO5 VCP DAG1 ACTA1 SYNE2 HNRNPDL TRIM32 TRPV4 FKRP CRPPA TMEM43 POMT2 POMT1 TRAPPC11 MYH7 HNRNPA1 GNE LMNA FHL1 SGCA SGCB CAPN3 SYNE1 TPM3 FKTN DES MORC2 EMD HP_NEMALINE_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEMALINE_BODIES KLHL41 ACTA1 NEB TPM3 MYPN NDUFB3 CFL2 TPM2 KBTBD13 KLHL40 NEFL RYR1 PYROXD1 TNNT1 MYO18B LMOD3 HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION NDUFA11 MT-ND4 NDUFS4 COX6B1 RRM2B NDUFAF1 MT-TS2 COX6A2 MT-CYB SURF1 PUS1 MT-CO3 TIMMDC1 NDUFV1 FOXRED1 POLG SLC25A4 NDUFS6 MT-TL1 TK2 TMEM126B TWNK MT-TQ MT-TL2 PNPT1 SLC25A10 MT-TF NDUFS1 NDUFS8 MIEF2 DGUOK MT-ND2 COA8 MT-TW COA3 MT-ND1 NDUFB10 PNPLA8 DNA2 NUBPL MT-TV MT-ND6 MT-TK MSTO1 FDX2 NDUFB9 POLG2 MT-TC TYMP NDUFAF4 MT-TT MT-TN ISCU NDUFS7 NDUFAF2 ETHE1 AGK NDUFA1 MT-ND5 MT-ND3 NDUFAF5 MT-ATP6 NDUFAF3 NDUFS3 MT-CO2 NDUFAF8 NDUFB11 NDUFB3 SUCLG1 TRMU CAV3 MT-TE NDUFA6 TACO1 MT-CO1 YARS2 NDUFV2 FARS2 NDUFA4 COX10 NDUFS2 HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE AK9 MUSK TNNT1 CHRNA1 GFPT1 KLHL41 TTN LRP4 DPAGT1 CHRNE ACTA1 CHRND COL6A1 COL6A2 SCN4A ALG2 GMPPB KLHL40 MTMR14 NEB COL6A3 LAMB2 TPM2 ACTN2 RYR1 TPM3 MYH7 CHRNB1 LMOD3 DNM2 DOK7 PNPT1 COL13A1 MYPN POMT1 KCNA1 CFL2 KBTBD13 MYF6 AGRN BIN1 RAPSN ALG14 GARS1 COLQ SPEG FXR1 HP_RIMMED_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIMMED_VACUOLES MATR3 VCP HNRNPA2B1 TTN ACTA1 SYNE2 HNRNPDL ADSS1 LRP12 TMEM43 SQSTM1 PABPN1 DPM3 GNE HNRNPA1 MAP3K20 LMNA GIPC1 FHL1 NEFH PNPLA2 DNAJB6 SIL1 TIA1 SYNE1 MYH7 TCAP TNPO3 EMD ACTN2 HP_NEONATAL_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_DEATH FGFR3 HSPG2 ETFA ETFDH NDUFB11 GAD1 FLNB FAM20C GLE1 PIP5K1C PKHD1 ATAD3A ETFB CEP55 GLI3 SLC25A24 INTU GLUL GBA SUCLG1 DSP LBR MBTPS2 FOXF1 GATC PET100 NDUFB10 QRSL1 HP_PHENOTYPIC_VARIABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHENOTYPIC_VARIABILITY PROC PDHX MSH6 IFIH1 DDX41 GJA5 PAK3 SCN9A GUCY2D MT-TS2 NEXMIF TNFRSF11B COL6A1 SF3B4 SETX KLHL41 MT-CO3 SLX4 RELN GYG1 CTLA4 FMR1 KCNQ5 PHACTR1 NF2 VCP GJA8 TAF13 MT-TF NUBPL PRCC ANO5 PAX2 GTPBP2 PRPF31 GDF6 EPHB4 ANTXR2 MT-ND2 NRIP1 CIC AFG3L2 DHFR FGFR1 GRIN2A NEFL NEFH MRPS7 SPR SURF1 GFI1B STAT2 CLCN2 PRRT2 SFXN4 LMNA RNASEH2B NDUFS8 SPTAN1 POLG2 QDPR DCC CHRNA2 CDON NFKB2 PAFAH1B1 VWF MT-TC TRPV4 SMARCB1 GRIN2B DNM1L MN1 MRE11 SELENON THAP1 DLX5 COL6A3 FKTN LAMA1 WDR26 GPAA1 POMT1 KRT86 COQ8A ADD3 HARS1 APC VAMP1 KIF5A CILK1 MT-ATP6 KIF1B MBTPS2 DLST WNT10B MT-ND4 CYP2U1 GJB6 MNX1 NDUFA1 ERCC1 DZIP1 PROK2 KIF5C IARS1 FGF12 PITX2 SGCA MT-CO1 GATA1 RTEL1 PRX GFPT1 SLC2A1 PRDM8 CHRNE GNAS HSD11B2 FKRP POMT2 PAX3 EIF2S3 MT-CYB TUBB2B TUBB3 CRELD1 PIGA OPA1 COL4A1 NDUFAF1 FGF23 RHOBTB2 HCN1 KLF13 MAPKBP1 SCN1A STXBP1 MT-TQ BRCA2 CAV1 STIM1 SERAC1 TLR3 GABRB2 CHRNA7 PEX10 MET PIGS GCH1 GRHPR SLC3A1 TBC1D24 MT-TW NLRP3 PFKM BICD2 SAMHD1 TTN EXOSC3 FH MPC1 POT1 DSTYK F10 PTCH1 GLI2 TUBB2A MT-ND6 PIGH CFAP53 CHRNA1 MPZ RORB DEPDC5 F2 EGR2 ANO3 KCNMA1 CANT1 EXOSC2 HDAC8 PNPLA2 KRT14 SLC25A26 EYA1 TICAM1 SLC7A9 DAG1 TNFRSF11A FIG4 DLD LRP5 INAVA STAT1 BCORL1 ATP6V1A RPS29 TENM4 CIT RAD51 KRT81 DPAGT1 LZTR1 TBCK SH3KBP1 ATP1A3 NR5A1 MT-ND1 CTNNB1 SCN4A ROGDI MFN2 CLTC SLC30A10 KIF11 ORAI1 KCNA1 ACTA1 KMT2B PPCS PDGFB CD3E CPOX HNRNPDL LRRK2 SMAD9 STX1B NAA10 CSPP1 PSAP SCN2A WWOX FBXO11 COL4A2 MAPK8IP3 TUBB6 SGPL1 NUP107 MT-ND5 POLG GJC2 CACNA1A GTPBP3 GABRB3 SLC5A7 PTPRO MEGF10 AGRN FLCN DNAJC21 MARS1 CACNA1S GM2A NFKB1 PKD2 PURA GUCY1A1 TERC CACNB4 ERBB3 GABRG2 SLC25A46 ANXA11 ZBTB18 ATP6AP2 HAVCR2 PRKCG FBXO38 RBCK1 SCNN1A SLC10A2 PIGN ATP6AP1 ATP1A2 SLC17A8 SHH ATL1 PUM1 PARN ALX4 MT-TL1 COL6A2 SPG21 FOXE3 PITX1 FAM126A SUFU MYH2 MT-ND4L NDUFAF6 DCX NLRP12 BMPR2 MT-TV GLE1 VEGFC GANAB TUBB4A TUBG1 ASAH1 SCN1B MT-CO2 KRT83 TPM2 FGFR2 PROKR2 ZIC3 CNKSR2 CFC1 MRPL44 PRPF8 PTCH2 TOR1A PMP22 TM4SF20 RBM12 GMPPB PRPS1 DARS2 MECR ACTN4 TBCD KCNK3 SLC12A5 TERT REEP1 NEUROD2 MYH7 GJB1 JAG1 PLAA EBP B2M BRPF1 TPM3 DZIP1L CLPX SAMD9L SMARCE1 KRIT1 NPRL2 CD3G TMEM106B EHHADH SPAST GRIA4 VMA21 DEGS1 F7 IKZF1 RYR1 MATR3 GATA5 VPS13D CFD MT-TK NPHS2 PEX2 PTCHD1 SLC52A2 CHRNA4 NPRL3 KIF1A C19orf12 GLI3 ATXN10 SDHB EP300 TBK1 TSEN15 MPDZ BCS1L C12orf65 UCHL1 RARS2 IBA57 AGK CREBBP TWIST1 GRIN2D MCM2 PTEN DCHS1 FARS2 LRSAM1 MITF GREB1L LGI1 SIX1 SLC5A2 MYOT METTL23 SGCE MED13L SNORD118 HGSNAT SIX3 LAMB1 TH TRIT1 TMEM126A RARS1 KIF14 GP6 ELOVL4 RANBP2 RMND1 KRT5 CDH23 ERCC5 CACNA2D2 CA5A TK2 NIPA1 MICAL1 AARS1 DPM1 ALAS2 DHDDS HP_DEATH_IN_CHILDHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_CHILDHOOD HMGCL GAD1 STT3B UBR1 OGDH PEX5 PLCB3 COX5A ACTL6B GNPTAB ABCB11 SCYL2 ABAT HYOU1 ERCC6 PQBP1 FKRP ATP5MD MRM2 TSEN54 MADD SUCLG1 NFIX RINT1 RNASEH2A RARS2 RNASEH2C SLC17A5 ATP7A RAB27A MTX2 PET100 TSFM FADD PSAP ERCC2 SEC31A HP_STILLBIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STILLBIRTH ALPL FLNA GDF5 SLC26A2 ZMPSTE24 SLC35D1 HYLS1 PTH1R CEP55 FLNB NSDHL COL11A1 PHGDH OSTM1 COL2A1 GBA LMNA RNU4ATAC ESCO2 LBR MUSK TRIP11 CALCRL CENPF NEK8 HP_VARIABLE_EXPRESSIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARIABLE_EXPRESSIVITY ACTA1 PPCS PROC PDHX CD3E IFIH1 PAK3 SCN9A MT-TS2 TNFRSF11B COL6A1 SF3B4 SETX KLHL41 MT-CO3 SLX4 GYG1 STX1B NAA10 CSPP1 PSAP SCN2A WWOX FBXO11 COL4A2 KCNQ5 MAPK8IP3 PHACTR1 TUBB6 SGPL1 NUP107 POLG VCP TAF13 MT-TF NUBPL GTPBP3 ANO5 SLC5A7 PAX2 PTPRO MEGF10 GTPBP2 AGRN MARS1 GDF6 EPHB4 ANTXR2 NRIP1 CIC AFG3L2 DHFR GM2A NFKB1 PURA GUCY1A1 GRIN2A NEFL NEFH SLC25A46 MRPS7 ZBTB18 ATP6AP2 GRIN2B SPR SURF1 GFI1B HAVCR2 STAT2 CLCN2 FBXO38 RBCK1 APC SFXN4 LMNA SCNN1A SLC10A2 RNASEH2B NDUFS8 SPTAN1 PIGN POLG2 QDPR ATP6AP1 CDON NFKB2 PAFAH1B1 SLC17A8 MT-TC EYA1 SHH ATL1 ALX4 MT-TL1 SMARCB1 COL6A2 SPG21 DNM1L FOXE3 FAM126A MRE11 SELENON DLX5 SUFU COL6A3 MYH2 NDUFAF6 FKTN LAMA1 WDR26 GPAA1 MT-TV GLE1 VEGFC POMT1 GANAB TUBB4A KRT86 COQ8A TUBG1 ADD3 HARS1 VAMP1 ASAH1 MBTPS2 VWF CYP2U1 MT-CO2 KRT83 TPM2 FGFR2 GJB6 NDUFA1 ERCC1 KIF5C IARS1 FGF12 PITX2 SGCA MT-CO1 CNKSR2 GATA1 MRPL44 SCN4A PTCH2 PRX GFPT1 SLC2A1 MFN2 PRDM8 FIG4 CHRNE MPZ NF2 PMP22 GNAS HSD11B2 FKRP GMPPB POMT2 PAX3 EIF2S3 MT-CYB TUBB2B TUBB3 PIGA TRPV4 PRPS1 DARS2 COL4A1 NDUFAF1 MECR RHOBTB2 ACTN4 TBCD REEP1 NEUROD2 MAPKBP1 SCN1A MYH7 STXBP1 MT-TQ PLAA STIM1 SERAC1 EBP GABRB2 B2M BRPF1 PEX10 PIGS GCH1 TPM3 DZIP1L CLPX SAMD9L GRHPR SLC3A1 TBC1D24 MT-TW MT-ND1 NLRP3 PFKM BICD2 SAMHD1 EXOSC3 CD3G TTN TMEM106B EHHADH SPAST GRIA4 MPC1 DEGS1 F7 RYR1 MATR3 F10 PTCH1 GLI2 VPS13D CFD TUBB2A MT-ND6 MT-TK PIGH CFAP53 CHRNA1 NPHS2 PEX2 F2 EGR2 PTCHD1 SLC52A2 KCNMA1 CANT1 EXOSC2 KIF1A C19orf12 GLI3 HDAC8 EP300 TSEN15 MPDZ PNPLA2 KRT14 SLC25A26 BCS1L C12orf65 RARS2 IBA57 SLC7A9 AGK DAG1 CREBBP TWIST1 TNFRSF11A CAV1 MCM2 PARN FARS2 MITF DLD SIX1 SLC5A2 MYOT METTL23 RTEL1 BCORL1 ATP6V1A SNORD118 HGSNAT RPS29 TENM4 SIX3 LAMB1 CIT TH TRIT1 TMEM126A KRT81 RARS1 KIF14 GP6 DPAGT1 LZTR1 TBCK RMND1 KRT5 ERCC5 SH3KBP1 MT-ND5 CACNA2D2 ROGDI CA5A TK2 CLTC SLC30A10 NIPA1 KIF11 ORAI1 AARS1 DPM1 KCNA1 ALAS2 DHDDS HP_INCOMPLETE_PENETRANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPLETE_PENETRANCE KMT2B NF2 MSH6 PDGFB IFIH1 DDX41 GJA5 TM4SF20 CPOX RBM12 GUCY2D EPHB4 HNRNPDL NEXMIF LRRK2 SMAD9 PRRT2 TRPV4 RELN CRELD1 MT-CYB CTLA4 SUFU OPA1 COL4A1 FGF23 ACTN4 HCN1 KCNK3 SLC12A5 TERT FMR1 COL4A2 KLF13 GJB1 MT-ND5 JAG1 GJA8 BRCA2 GJC2 CACNA1A CAV1 TLR3 PRCC CHRNA7 GABRB3 MET PAX2 FLCN PRPF31 SMARCE1 CACNA1S MT-ND2 TTN NRIP1 KRIT1 NPRL2 FGFR1 PKD2 FH VMA21 GRIN2A POT1 TERC CACNB4 IKZF1 ERBB3 DSTYK GATA5 GABRG2 MT-ND6 GLI2 ANXA11 PRKCG CLCN2 RORB DEPDC5 ANO3 CHRNA4 NPRL3 DCC CHRNA2 SLC2A1 ATP1A2 VWF EYA1 SHH ATL1 PUM1 PARN SMARCB1 ATXN10 SDHB TBK1 FOXE3 PITX1 MN1 THAP1 DLX5 TICAM1 UCHL1 MT-ND4L DCX NLRP12 BMPR2 PTEN DCHS1 LRSAM1 GREB1L LGI1 SIX1 LRP5 INAVA KIF5A CILK1 STAT1 MT-ATP6 PTCH2 KIF1B SGCE DLST WNT10B MT-ND4 PTCH1 MED13L SCN1B RPS29 TENM4 SIX3 RAD51 MNX1 LZTR1 MT-CO3 ELOVL4 RANBP2 DZIP1 PROK2 CDH23 ATP1A3 NR5A1 MT-ND1 PROKR2 CTNNB1 SCN4A CFC1 RTEL1 PRPF8 KIF11 MICAL1 TOR1A MFN2 HP_SHOULDER_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_DISLOCATION FLNA COL5A2 TMTC3 COL5A1 ARF1 ERMARD B3GAT3 MAP1B AEBP1 CHST3 DYM ARFGEF2 COL1A1 NEDD4L NGLY1 COL1A2 HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY EXT1 ATR SRCAP FLNA RPS6KA3 ERCC6 GNPAT EVC PCNT TRPS1 TRIP11 IFT140 RMRP CTBP1 IHH IFT172 EIF2AK3 MGP FGFRL1 FGFR3 IFIH1 LETM1 GPX4 GDF5 COG4 KIF15 COMP FLNB ERCC8 CPLX1 DYM COL9A1 COL2A1 RUNX2 BGN SALL1 NSD2 COL9A2 COL9A3 RAB23 MATN3 NEK1 PRKAR1A BMPR1B IFT52 MRPS28 ATRX KCNH1 NPR2 NKX3-2 EVC2 HP_ABSENT_FOREARM_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOREARM_BONE LMBR1 WNT7A FGF10 FLNB TBX3 GLI3 FGFR2 FANCD2 FANCE MAFB RECQL4 FANCA SF3B4 DONSON RBM8A FANCB CHD7 FGFR3 FANCC CHN1 SALL4 TBX5 ZIC3 SEMA3E ESCO2 TRIO HP_APLASIA_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_ULNA WNT7A TBX5 LMBR1 TBX3 ESCO2 HP_ABNORMALITY_OF_THE_RADIAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RADIAL_HEAD ATR KIF22 NOG B3GALT6 LMX1B CHRNG RECQL4 FLNA SHOX SLC39A13 ANAPC1 SKI IFITM5 COL27A1 TBX15 NIPBL B3GAT3 FZD2 SCARF2 CHST3 ASXL1 EP300 COL1A1 RNU4ATAC BMP1 ERCC1 CD96 PRKAR1A COL5A2 EXTL3 MAP3K7 NOTCH2 COL5A1 DONSON EXOC6B ARID1B CREBBP GPC6 GSC B4GALT7 HP_ABNORMALITY_OF_RADIAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES COL9A2 IFIH1 COL9A1 COL9A3 BGN HP_ABNORMALITY_OF_ULNAR_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ULNAR_METAPHYSIS NDN COL2A1 COMP MAGEL2 COL10A1 RECQL4 SNRPN MMP13 ANAPC1 MMP9 HP_ABSENT_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAND ARHGAP31 DOCK6 DLL4 EPS15L1 SEM1 RBPJ PLXND1 TBX3 DLX6 EOGT LMBR1 TP63 DLX5 WNT10B NOTCH1 REV3L BTRC IKBKG HP_SCLEROSIS_OF_HAND_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_HAND_BONE GJA1 TRPS1 ERCC6 EIF2AK3 EBP NGLY1 LMNA ERCC8 HP_MITTEN_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITTEN_DEFORMITY DSP COL7A1 COL17A1 MMP1 LAMC2 ITGB4 LAMA3 LAMB3 HP_MACRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODACTYLY GPR101 PIK3CA AKT1 AIP PTEN HP_ABNORMAL_2ND_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY BMPR1B PIK3CD COL2A1 CANT1 RUNX2 CHSY1 HOXA13 GDF5 BMP2 INTU FLNA BHLHA9 MYCN IHH FGFR2 TGDS MEIS2 HOXD13 KNSTRN IRX5 TWIST1 KIF15 PTRH2 MED12 CSGALNACT1 GPC4 OPA3 MED25 GPC3 HP_MIDLINE_DEFECT_OF_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDLINE_DEFECT_OF_THE_NOSE EFNB1 ZSWIM6 FREM1 GRIP1 FREM2 LONP1 HYLS1 PTCH1 NF1 ALX1 ALX4 ALX3 FRAS1 TBX4 HP_ABNORMAL_3RD_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY FGF10 FGFR3 PIK3CD COL2A1 GLI3 RTL1 PKDCC SMC1A CHSY1 FGFR2 GDF5 KNSTRN TWIST1 PTRH2 DLK1 IHH MED25 MEG3 HP_ABNORMAL_4TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY KCNJ11 ABCC8 MECOM FBXW11 GDF5 PIK3CD COL2A1 GLI3 IHH SNRPN KNSTRN HP_ABNORMAL_5TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY WDR35 KDM1A KDM6A CLIP2 UBR1 PUF60 SOX4 BUB1B POLA1 EVC WNT5A DHPS FGFR3 SHANK3 ARID2 RB1 BRCA1 ZFPM2 KMT2A TBX1 MEIS2 CEP152 IFT140 RPGRIP1 BPTF IFT27 MLXIPL CREBBP CEP55 TRPS1 LIG4 RBBP8 PIK3R2 HDAC8 TBC1D24 GDF1 TBX15 CENPJ GTF2I IFT172 DHCR7 FANCM BCOR RPGRIP1L DYNC2I1 C8orf37 KIF7 SEMA3E TTC21B HOXD13 SOS2 GDF5 TMEM107 B3GLCT FGF10 TELO2 SRCAP TBL2 TMEM67 AUTS2 GPC3 IGF1 DEAF1 GATA4 MAN1B1 CIBAR1 INPP5E XRCC2 SOS1 SPECC1L SMC1A CCNQ CDC6 ACVR1 DYNC2H1 GATA5 DYNC2I2 MKS1 MASP1 DYNC2LI1 AKT3 KCNK4 C12orf57 ORC1 PLAA TRIO SETBP1 OBSL1 C2CD3 LIMK1 XRCC4 COL2A1 SALL1 MBTPS2 CCDC8 BRAF GATA1 CDT1 IGF2 CKAP2L PLK4 ARL6 LBR ODC1 MRAS CENPE FZD2 SLC26A2 RAD51 MBD5 SMC3 MEGF8 SHH CCND2 FGFR2 PCNT TMEM216 DPF2 YWHAE GPC4 RBM8A TGDS EIF4A3 FANCD2 BMPR1B MKKS HMGA2 BHLHA9 KLF13 KPTN OFD1 CD96 TGFBR1 GJA1 DYM CRKL BUB3 IFT80 TCTN2 RUNX2 TRIM32 PKDCC CHRNA7 BBIP1 PIGS WDR19 PIGL WIPI2 SC5D SMARCD1 PQBP1 HOXA11 RPL10 CTCF RAB23 BBS9 MAPK1 KCNAB2 L1CAM DONSON KRAS PAFAH1B1 SMO GLI2 ERCC4 TFAP2B PIGH FLT4 MYCN EFNB1 AKT1 NONO EVC2 NSUN2 AMMECR1 FGD1 IHH USP7 KCNJ2 DVL1 FANCC FLNB BMP2 KMT2D TRPV4 UBE3A ARID1A RRAS TP63 PPP2R1A BMP4 KAT6B ELN NPHP1 PIK3C2A STAG1 GABRD SPOP RIT1 DDX59 FLNA TRIP13 KIAA0825 CUL7 EMG1 UBE2T MACROH2A1 SMARCC2 DPAGT1 ZC4H2 MAD2L2 TTC8 RAD21 ZNF141 FBXW11 SMARCB1 TRAPPC9 PACS1 RERE TMCO1 RAB18 TBX3 GLI3 CHSY1 WDPCP LZTFL1 HOXA13 COX4I1 REV3L IFT122 RRAS2 PHF21A SH3PXD2B NRAS RASA2 ATRIP PIGN RNU4ATAC FLII ARID1B XYLT1 KIF15 SLX4 AMER1 ATR MAPK8IP3 NOG KAT8 BUB1 RAI1 LEMD3 GJA5 BBS1 FANCB JAG1 SOX6 ZNF462 HYLS1 GTF2IRD1 BBS10 PITX1 ARMC9 VPS13B SLC9A7 NAA10 PTEN TRRAP RFC2 PALB2 AFF2 MECOM NIN B9D1 ORC4 BCR SNRPB SNRPN LIFR A2ML1 FANCI COL11A1 RAF1 SMARCE1 PACS2 SETD5 KDM6B TCF20 CEP290 CNOT3 EXT2 SMARCA4 RAD51C DVL3 SLC2A10 SKI BRAT1 PTH1R SMOC1 BBS2 BBS7 FANCE IQSEC2 NKX2-5 SATB2 ROR2 MAF NEK1 LMBR1 TRAIP CBL STAG2 MAP1B GMNN WNT7A RAC1 CC2D2A CNOT2 NIPBL RSPRY1 PDE6D TWIST1 CUL4B CHST3 SHOX TMEM231 GATA6 NXN H19 EBP BRIP1 PORCN SLC29A3 SOX11 IFT43 PTPN11 SUFU ATRX NKX2-6 CCDC28B BBS5 CANT1 B9D2 PRDM16 ESCO2 BBS4 TFAP2A CEP120 CEP57 ORC6 WDR4 BLM FANCF TCTN3 BBS12 PRKACB PLXND1 RNF216 NUP37 EP300 CHD7 BRCA2 ZDHHC9 DACT1 IFT52 PNPLA6 HDAC4 CSPP1 ALX3 TBX4 BAZ1B CDC45 LMX1B FANCL PLAG1 SDCCAG8 PIEZO2 LZTR1 RFWD3 FANCG FANCA CDKN1C CITED2 HIC1 UBE3B HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY GDF5 GJA1 SOX11 BMPR1B PUF60 COL2A1 SOX4 RUNX2 BMP2 WNT5A GATA1 BHLHA9 DPF2 MYCN IGF2 HOXD13 SMARCD1 ARID2 SMARCC2 SMARCE1 ROR2 TFAP2B ARID1B DVL1 SMARCA4 KIF15 ZNF141 SMARCB1 NOG ARID1A RBBP8 NIN HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER GDF5 GJA1 BMPR1B PUF60 RUNX2 BMP2 WNT5A GATA1 BHLHA9 MYCN IGF2 HOXD13 ROR2 TFAP2B DVL1 NOG RBBP8 NIN HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER SOX11 COL2A1 TFAP2B ARID1B SOX4 SMARCA4 SMARCB1 DPF2 GJA1 IGF2 ARID1A SMARCD1 ARID2 SMARCC2 SMARCE1 HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES PTH1R SLC10A7 SETD2 B3GALT6 CANT1 SLC35D1 XYLT1 HP_DUPLICATION_OF_HAND_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_HAND_BONES WDR35 SALL4 TBX3 GLI3 CHSY1 WDPCP ARMC9 FANCE EVC LZTFL1 WNT5A SMO HOXA13 TBX1 MKS1 TMEM231 SH2B1 CD96 EXTL3 TSR2 RPGRIP1L RAB23 PHF8 LMBR1 IFT140 RPGRIP1 CCDC22 UFD1 FLII IFT27 B9D1 INPP5E CEP55 NUP107 RAI1 BBS1 KIF7 CPLX1 FLNB PIK3R2 SEC24C HYLS1 INTU FAM149B1 RPS19 BBS10 IFT172 NSD2 DHCR7 ADA2 HOXD13 NAA10 RREB1 KATNIP CPLANE1 RPL35 RPL15 DYNC2I1 C8orf37 FANCC RPL31 HIRA PDE6D IFT80 ZIC3 GLI1 SEMA3E UBE2T OFD1 TTC21B GPC3 TMEM107 FGF10 TFAP2A TMEM67 CC2D2A DEAF1 KIAA0753 MAFB GPC4 WASHC5 TMEM138 CIBAR1 GP1BB GATA1 TCTN2 LEMD3 NELFA RPL26 GDF5 TMEM216 CHD7 DYNC2H1 CEP290 TMEM237 ARL13B DYNC2I2 DYNC2LI1 AKT3 PLAA SETBP1 SMOC1 DVL1 SHMT2 C2CD3 BBS2 CEP41 BBS7 SALL1 MBTPS2 IQSEC2 GJB6 AHI1 FGFR2 EVC2 SHH ROR2 ACOX1 EFTUD2 NEK1 ARL6 FGFR3 LBR RPS15A JMJD1C CEP104 MEGF8 CCND2 RPL27 WNT7A BCOR FANCA CSPP1 ABCA12 DDX59 LETM1 COMT MKKS RPS17 BHLHA9 TBX5 RPL11 PORCN TCTN1 TGFBR1 PTEN SUFU TRIM32 BBIP1 ACTG1 CCDC28B SC5D BBS5 RPL35A BBS9 RPS10 ACTB B9D2 ESCO2 PIK3CA RPS7 BBS4 PNPLA6 CEP120 GLI2 TFAP2B KIAA0586 BLM TCTN3 BBS12 RBM10 PRKACB CANT1 NPHP1 ZNF423 CTBP1 ARVCF RPS24 DACT1 ARL3 FGFRL1 FLI1 RPS26 RPS28 GJA1 CHN1 TWIST1 ALX3 RPS29 RPL18 PIBF1 BMP4 PPP2R3C EFNB1 PUF60 FANCD2 FLNA WDR19 SDCCAG8 KIAA0825 EBP RPL5 BMPR1B TTC8 RPS27 ZNF141 PAH FANCB TMCO1 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND FGFR2 HOXD13 SALL4 RECQL4 NOG B3GALT6 CHSY1 EVC GDF5 PAX3 HOXA13 IHH MAP3K7 ROR2 APC LRP4 FGFR3 NXN BMPR1B COL11A2 ZIC1 FLNA FLNB BHLHA9 FGF16 SMOC1 PTDSS1 ANAPC1 TWIST1 FBLN1 MYH3 PITX1 MACROH2A1 EVC2 PQBP1 POR ESCO2 TFAP2B TCF12 FGF9 DYNC2LI1 GLI1 ATP7A NONO RBM8A HP_SHORT_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALM WDR35 CHSY1 ATP7A RSPRY1 PTDSS1 WNT5A CRLF1 SIL1 RMRP LTBP3 SIN3A CUL4B FZD2 FGD1 FGFR3 GDF5 PIGL MAPRE2 FLNA MKRN3 SNORD115-1 COG4 PIK3R1 FGFR1 B3GALT6 COL2A1 CRKL KRAS HDAC6 BGN YY1AP1 GPX4 TRIP11 WAC CCBE1 MAPK1 RAI1 COL9A2 DYNC2I1 CAMK2G RECQL4 TBCE BCR B3GLCT FBN1 RAB3GAP2 GPC3 GPC4 CDKL5 TRPS1 COL11A1 IHH PWRN1 MAP3K7 DYNC2H1 KCNJ2 DVL1 EVC2 HERC2 NOG DYNC2I2 HDAC4 DVL3 NDN WDR81 BHLHA9 ORC1 PWAR1 TRIO PPP2R3C FGFR2 RNU4ATAC EXOC6B EVC PUF60 LMNA MSL3 IFT80 GATA1 SMARCA2 ANTXR2 SMAD4 FGF9 SNIP1 ADAMTSL2 IGF1R ROR2 KDM5C PRKAR1A COL11A2 MAGEL2 TBL1XR1 MRPS28 NPAP1 INPP5K PTH1R INPPL1 KAT6B PCYT1A MBD5 SNORD116-1 DPM1 SNRPN HP_NARROW_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALM NDN MAGEL2 AUTS2 HERC2 NPAP1 MKRN3 SNORD115-1 KANSL1 SNRPN VPS13B SMS SNORD116-1 PWAR1 PWRN1 UBE3B HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA BAZ1B CLIP2 LIMK1 RIPK1 ELN TBL2 ERGIC1 LBR RASGRP1 GBA CISD2 AIRE GTF2IRD1 FOXP3 GTF2I WFS1 CASP10 ABCC2 FAS CTLA4 TTC37 RFC2 PRKCD LRBA ARID1B CARD8 PLA2G4A SKIV2L KRAS CDH1 IL1B IL1RN FASLG HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM LYST RNASEH2B AP1B1 CLIP2 GCLC CYP7A1 UBR1 CASK TPO ARL13B ATP7A PEX5 TBX1 IFT122 SMAD4 PRPS1 FARSB CCDC115 BCS1L EPB42 NPHP3 SAMHD1 SLC4A1 NOTCH2 MMACHC GPI PEX6 ABCG8 RAB27A B2M NPC2 PRF1 CPLX1 PEX2 ARSA SEC24C KRT18 GALE SP110 GBA PIEZO1 SMPD1 GTF2I NSD2 DHCR7 HFE LHX4 GALK1 SLC25A13 ENG DHFR RNU4ATAC IL18BP ERCC4 COX4I2 RPGRIP1L IL2RG KIF3B PALLD CLDN1 SCNN1G PHKA2 FOXF1 DCDC2 ABCB4 B3GLCT ALAS2 TBL2 SPTB TMEM67 PEX26 ATP8B1 INPP5E GFM1 PEX16 GP1BB TSHR EPB41 PEX13 POU2AF1 FUCA1 NELFA SLCO1B1 TGFB1 CASR PRSS1 G6PD HADHB PKLR PHKG2 CFTR GLRX5 NEK8 LIMK1 CYP27A1 SHPK HBB AIRE PEX3 CCDC47 UQCRFS1 UGT1A1 INTU COG7 SLC44A1 ARL6 SPECC1L RNASEH2C CEP83 AMACR DMPK SLC5A5 IFIH1 PEX14 CYP7B1 TREX1 SPINK1 CIITA RFXAP LBR BPGM ABCB11 F5 IFT172 TTC37 EIF2AK3 RFXANK LETM1 SPIB COMT VIPAS39 ALG8 ANKS6 CPA1 POLG PTPN3 MMEL1 POMC SLC30A10 MED25 ETFDH GLIS3 NKX2-5 AKR1D1 POLG2 SC5D IL36RN ATP6AP2 PFKM PEX10 CTCF AP1S1 LIPA ABCC2 LONP1 SCNN1B PEPD IL12RB1 PSAP TRHR MPV17 HSD17B4 CDIN1 SLCO1B3 SLC2A1 BRCA1 RNF43 SERPINA1 HESX1 TFAM ANK1 NSD1 PKHD1 LHX3 PRKAR1A SLC26A4 CD40LG KCNN4 NBAS GALT KRT8 ELN IRF5 TNPO3 GATA6 DPAGT1 SCARB2 PARS2 ATP7B WDR35 TRMU LPL FECH PNPLA2 MECP2 TMPRSS6 TCF4 PCSK1 TRAF3IP1 GNE SPOP APOA1 VPS33B CLCA4 PEX11B STK11 CPOX LYZ SCNN1A HNF1B DCTN4 NR1H4 MKS1 FCGR2A CDKN1B SPTA1 COG6 GALM USP9X UFD1 PRSS2 TG GNAS ITCH ACADVL ADK DUOX2 HADHA TBX19 CDKN2A OCLN HK1 GTF2IRD1 TJP2 ETFB RHAG RREB1 ABCD3 ESCO2 RFC2 HIRA CDAN1 PEX1 IFT140 PAX8 ASAH1 ADAR TSHB ALDOA ATP6AP1 ARG1 FLI1 RFX5 CTRC ACVRL1 SON CEP290 NEUROG3 CNOT1 INSR DUOXA2 TNFSF15 SETD2 POU1F1 ADAMTS13 STX11 ALDOB BRCA2 ZIC3 JMJD1C HSD3B7 PROP1 SAA1 ETFA MST1 IL12A GYPC TP53 CC2D2A PEX12 PYGL SEC23B EARS2 GCGR RFX6 ATP11C PALB2 GPC1 LMNA PEX19 STX1A IYD DZIP1L BBS1 FADD DGUOK JAG1 IARS1 FGA UROS APC2 CCDC28B BLVRA TTC7A TPI1 GPR35 GDF2 KRAS LMBRD1 FH RNASEH2A CTBP1 ARVCF IER3IP1 HOXD13 FGFRL1 RINT1 JAK2 HMGCL IL21R BAZ1B TMEM216 KMT2E HBG2 NPC1 HNF4A HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL CLDN19 WDR35 CLIP2 AMHR2 PUF60 CDH11 HES7 GPHN AMH TPO ELOVL4 ATP7A DDRGK1 WNT5A AGA TBX1 IFT122 SF3B4 RMRP KCNH1 SUZ12 PRKG1 HNRNPA1 FARSB BRCA1 BCS1L BCOR TTC37 TENT5A SKI KCNA1 CHST14 CCDC22 MTOR GLRB ELN MLXIPL COL1A2 SLC35C1 COL1A1 CREBBP PIGQ IDS ZBTB24 SIK1 FGFR1 GDF1 OCRL SEC24C UPB1 ADAMTS2 MEG3 RIC1 ATP6V1A PLD1 NEU1 GTF2I SETBP1 NSDHL PIK3R1 SMAD3 FANCM LHX4 DSE HYMAI FBLN5 SLC26A2 LMOD1 KCNJ8 BRAT1 DLK1 FIBP FUCA1 KIF7 NFIA NPHP3 AP1S2 ALDH18A1 FBN1 MYLK FRAS1 SOS2 B3GLCT BRF1 SRCAP TBL2 DGCR8 BMPER TMEM67 AUTS2 GPC3 INPP5E GLB1 XRCC2 SOS1 GP1BB GLRA1 SPECC1L SLC25A22 NXN ZFP57 DYNC2H1 MANBA DYNC2I2 MASP1 GPC6 COL3A1 SKIV2L SATB2 GUSB PTDSS1 LIMK1 TRAF7 MFAP5 FAH SHPK MPLKIP RNF13 LDHD P3H1 MBTPS2 HSPG2 SCN1B IGF2 FTO SNIP1 CDKN1C TGFB2 NFIX GMNN LBR PITX2 NOTCH2 COL5A1 MRAS DHCR7 FZD2 RAD51 CDKL5 DVL3 EFEMP2 SLC5A5 SEMA5A MEGF8 CHRNG DPH1 PYCR1 RPGRIP1L RTL1 PLOD2 MAT2A GNPTAB YWHAE NOTCH1 ELMO2 TGDS DNMT3A FANCD2 COMT WNT3 TSHR FLNA BHLHA9 EED MESP2 EHMT1 GPC4 CHRM3 CD96 MED25 SMCHD1 SHANK3 NAA10 GLIS3 CRKL DIS3L2 TMEM107 NKX2-5 COLEC10 B3GAT3 NLRP3 PIGS NECTIN1 PIEZO1 SCN2A IRF6 RPL10 TWIST2 CTCF RAB23 COLEC11 MAPK1 RIPPLY2 KRAS DMXL2 PAFAH1B1 ERCC4 ERCC2 ANTXR1 AR SLC6A5 BRAF DGCR2 PTPN11 EFNB1 ATAD1 TRHR DLL3 GNAO1 IDUA GTF2H5 LTBP4 SLC25A24 MAN2B1 PIGY FGD1 KCNQ1OT1 CDC42 AEBP1 PIEZO2 H19 HESX1 NSD1 DVL1 NOTCH3 LHX3 GJA1 TTC7A FANCC KMT2C FLNB RRAS PPP2R1A TGFB3 TGFBR1 LOX FREM2 RIT1 IFT80 STRA6 ABCC8 STXBP1 UBE2T GATA6 PLAGL1 ZEB1 C1R SLC10A7 NAT8L RAF1 C1S ATP6V1E1 ATP6V0A2 MECP2 MAD2L2 KNSTRN MEIS2 PTCH1 PPP1R12A FBXW11 ACTG2 PACS1 TMCO1 LMNA SEC31A VANGL2 TBX3 GLI3 CTNND2 COL2A1 RNF113A TSHB TGFBR2 DGCR6 TP63 MKS1 CEP120 RRAS2 CAVIN1 SH3PXD2B TMEM70 NRAS RASA2 COL5A2 USP9X PIGN UFD1 ARID1B FOXF1 XYLT1 ASXL1 ACTA2 BSCL2 SLX4 AMER1 SMAD4 RIPK4 POLR2A TG KDM3B FANCB THRA SOX6 DUOX2 GTF2E2 HYLS1 GTF2IRD1 POGZ NEK9 ESS2 BMP1 RREB1 DNMT3B IKBKG TRRAP COL11A2 RFC2 PALB2 MYH11 TBCK PRDM5 WDR19 HIRA SEMA3E RPS6KA3 TUBB EOGT PNKP EZH2 PAX8 BCR BCL11B PIK3CD KDM5B A2ML1 FANCI LRP2 WASHC5 ALG9 COL11A1 MYH3 MED12 CHD7 RAD51C ABCD4 CHUK SLC2A10 FOXE3 INSR DUOXA2 GAD1 SETD2 ATRX IFT81 FANCE CHST3 POU1F1 NEUROD2 OFD1 FREM1 RIN2 ROR2 MAF CTNNB1 GRIP1 ZIC3 IRX5 JMJD1C CBL PROP1 PPP2CA RAC1 CC2D2A MTHFR NIPBL ERCC3 DACT1 ABCC9 SIN3A FGFR2 CUL4B UBA1 MMP2 PIGP IYD TRIM8 BRIP1 PORCN DDX6 GALNS SUFU APC2 TRIP11 CANT1 CCBE1 CBS ZMPSTE24 LONP1 CLCN4 TARS1 DYNC2I1 FANCF CDCA7 MMP14 HMGA2 PHGDH MED13L ARX STS XRCC4 ODC1 ARVCF MSX1 BRCA2 HOXD13 KAT6A KCNJ11 MCOLN1 FLI1 SERPINH1 HDAC4 ADNP ISL1 TOR1A CASK DYRK1A APC NALCN AGPAT2 PLOD1 PPP2R3C BAZ1B TASP1 FANCL PLAG1 KCNQ1 SALL1 LZTR1 RFWD3 FANCG FANCA GNE LFNG FKBP14 KLHL7 MAPRE2 PAH ARSB HELLS HIC1 HP_FUNCTIONAL_MOTOR_DEFICIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_MOTOR_DEFICIT RNASEH2B ARV1 TRAK1 WDR48 VCP GPHN ERLIN1 AP4M1 CHRND SMARCE1 GABRG2 FARSB GYG1 BCS1L SLC1A2 KY SAMHD1 ATL1 ACTC1 MT-ND1 TNPO3 SELENOI NTNG1 NECAP1 CYP2R1 TOP3A COL12A1 DCC NUBPL CDH23 ANO5 SCN8A NEB B4GALNT1 POMT1 RSPH9 TGM6 ABCC8 MYH7 NTN1 MATN3 MYF6 MSTO1 MT-CO1 AGRN NEFH VPS13A SYT2 JAK2 SPEG SURF1 CHRNA1 PHKA2 SMARCB1 RYR1 FDX2 CRPPA NDUFS8 PDE10A BRCC3 MT-ND5 POLG2 GABRA2 PRX ADCY5 ARSA SCN4A ARHGEF2 GALC TRAPPC11 MRE11 GRID2 MEN1 ATP13A2 SNAP25 MT-TK CPT2 CHRNB1 NKX2-1 SDHAF1 HADHB MT-ND6 LAMP2 RAPSN PYCR2 SDHA SACS PHKG2 POMGNT1 HINT1 NUP62 ERCC1 DOK7 ADSS1 SLC5A7 COQ8A AKT1 MORC2 GPAA1 SGCA MT-TL1 CHAT SCN3A SIGMAR1 FOXG1 C12orf65 TBCE KCNA2 CAPN3 CHRNE POLG TTN CACNA1A RNASEH1 NOL3 PANK2 SMS BIN1 RNASEH2C DDHD1 LRRK2 ACTA1 SH3TC2 YWHAG NOP56 GBA GFPT1 NACC1 IFIH1 SLC18A3 RAB11B MUSK SBF2 VAMP1 KIF1C TRAF7 RRM2B FLNC TET2 FKRP KLHL41 ARL6IP1 EIF2S3 ASAH1 IBA57 SLC2A3 GMPPB GBA2 REEP1 COL13A1 TBX20 PMP2 KCNB1 MECP2 CDK8 PSAP COL6A3 ALS2 SLC30A10 MT-TF C1QBP CITED2 MED25 TWNK AARS1 DAB1 RTN2 GABRB2 GRIN2D MTMR14 SLC25A1 MT-CO3 PUS1 PLEC HK1 UBE3A COA3 AP4S1 PFKM BICD2 TRAF3 SUFU RSPH4A TLR3 YARS2 DNA2 AP4B1 SLC34A3 TAZ DNM1L COX20 WASHC5 SYNJ1 SETX NUS1 TK2 SPG21 TICAM1 LRP4 LRP12 NF2 HACE1 ERCC8 COL6A2 NDUFB11 PNPLA2 CPT1C GABBR2 FHL1 FA2H LAMB2 PRKAR1A UBA5 FIG4 PUS3 DNAJB6 KLC2 TBC1D23 CHCHD10 CNKSR2 SLC19A3 TLL1 VDR PGAM2 ENO3 DYNC1H1 CDKL5 MT-TW COQ2 GABRA5 MYPN SGCD ACAD9 HNRNPK MICU1 TPM2 ERCC6 STXBP1 MT-ND4 ATP7B HCCS SDHB ACTL6B CCN6 MFN2 ELOVL5 DNM1 NKX6-2 UNC93B1 SCYL1 NDUFS4 MAPT ATP6AP2 CCDC88C ERCC4 NKX2-5 NTRK2 FTL MTPAP TPM3 ALG2 CAVIN1 DNAL4 GCDH USP9X ABCD1 VPS35 TTBK2 DNAJC13 FLAD1 CYP27B1 MT-ATP6 MYH6 MARCHF6 CRYAB FARSA POLR2A FUS TIA1 JPH3 PLP1 DLAT KCND3 TDP2 LAMA2 GLRA1 SORD MEGF10 SZT2 FLRT1 POMT2 AP4E1 ORAI1 PYGM GATA6 CALR SPAST TRMT5 DARS2 DES DMD ARSI MGME1 SLC30A9 BAP1 MT-TS2 POPDC3 FBXO38 TYMP ADAR CLTC POMK DYSF DAG1 MYOT ARG1 PDGFB KCNJ10 TBK1 BSCL2 HCN1 CDK19 TMEM126B SYNGAP1 GTPBP3 MT-TN PRNP DNM2 ATP6V1A GLE1 ABHD5 STRADA HSPB3 STIM1 C19orf12 COASY EIF4G1 PGM1 GYS1 TGFB1 PGAP1 GDAP2 SCO2 MT-TH WARS1 KLHL9 HADHA PGK1 NTRK1 GATA4 CASQ1 MT-CYB GOSR2 RNU12 SMO LDHA AK9 PHKA1 TERT SLC25A4 INTS1 SPART RSPRY1 BAG3 GRM1 FGF12 SDHD SQSTM1 MAP3K20 PDK3 PIK3R5 GPT2 PLEKHG5 KCNC3 PYROXD1 COLQ STUB1 GJB1 DDX6 ACOX1 DALRD3 FKBP14 ALG14 ATP5F1D MIEF2 TREX1 GAN PPP3CA MT-TQ HERC1 SGCG KBTBD13 AP3B2 GJC2 VMA21 TPP1 SNCA VPS13D TCAP RARS1 MFF PEX2 HTT MATR3 FAR1 ASPA SLC13A5 ATP2B3 DPAGT1 COX7B SLC25A19 RNASEH2A ISCU FGF14 RAD51 ATRX CIZ1 AIP HPCA SGCB CYFIP2 WWOX TAF1 AGK SLC52A2 CACNA1B COL6A1 SPG11 FKTN CHP1 MYO9A GIGYF2 TFG WARS2 EEF1A2 CAPN1 MPL PARS2 HSPB1 BVES OCA2 PIK3CA DHTKD1 MT-TE MT-CO2 PEX6 CWF19L1 DHDDS HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY CCDC174 FKRP VCP TRIP4 MT-TS2 COX6A2 CHRND NDUFB3 COL6A1 MT-CO3 HNRNPA1 BCS1L ACTA1 ACTN2 GMPPB MT-ND1 MT-TF MYH7 TOMM40 TNPO3 MAP3K20 COL12A1 FKTN PFKM KCNA1 NEB POMT1 MT-TQ AFG3L2 MYF6 MSTO1 MT-CO1 AGRN FHL1 NEFL NEFH VPS13A GARS1 SYT2 MT-ATP8 MT-TV SPEG CHRNA1 PHKA2 RYR1 CRPPA TNNT1 MT-ND5 TTN ITGA7 MT-TC DNM2 GABRA3 SCN4A CHAT GNE SELENON SNAP25 MT-TK AIFM1 COL6A3 PSEN1 MT-ND6 SYNE1 PHKG2 CASQ1 POLG2 PSEN2 COQ8A MT-TL1 KCNJ18 SIGMAR1 CHRNE POLG TRAPPC11 BIN1 MYPN CFL2 CPT2 SIL1 HPDL CHRNB1 TPM3 GFPT1 SLC18A3 DPM3 MUSK VAMP1 ABCA7 FLNC KLHL41 MT-CYB PABPN1 COQ2 COL13A1 IFIH1 STIM1 ALS2 LARGE1 TWNK MT-TL2 PNPT1 MTMR14 LAMA2 SQSTM1 MT-ND2 MT-TW OPA1 CACNA1S MT-RNR1 TK2 MT-TP SGCG LRP4 POMT2 MYL2 TYMP LRP12 LMNA COL6A2 PNPLA2 PPARG KLHL40 SLC25A26 LAMB2 HNRNPA2B1 DNAJB6 TREM2 CHCHD10 CRYAB DOK7 ENO3 COQ5 HNRNPK SDHA TPM2 MT-ND4 TRMU CAV3 MICU1 NDUFA4 RRM2B DPAGT1 HNRNPDL TMEM43 TRPV4 ALG2 TRIM32 DAG1 CARS2 STAC3 FUS TIA1 TNXB LDB3 PYGM EMD CNBP CCDC78 POPDC3 ANO5 DYSF ALG14 KCNE3 MYOT ASCC1 MYH2 POMK DYNC1H1 MT-TN LMOD3 SLC5A7 PHKB ABHD5 GYG1 SARS2 MT-ATP6 SYNE2 MGME1 GYS1 MT-CO2 MT-TH SLC22A5 MT-TE FXR1 AK9 SLC25A1 SURF1 EARS2 POMGNT1 SLC25A4 PYROXD1 COLQ MT-TI GFER MIEF2 ADSS1 DGUOK KBTBD13 HACD1 CAPN3 ORAI1 RAPSN MATR3 TCAP SPG7 ISCU GLI3 SGCB SPG11 APP MYO9A DHX16 TOR1AIP1 SORL1 BVES GIPC1 MT-ND3 MYH14 MYO18B PLOD1 HP_INVOLUNTARY_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVOLUNTARY_MOVEMENTS LYST DCPS GRIA3 KDM1A CLIP2 ANOS1 PUF60 TRAK1 FKRP GPHN YY1 ARMC9 GUCY2D GPR88 AP4M1 TMEM240 CHD3 ADGRG1 GCSH SETX QRICH1 MAG SHANK3 NADK2 KCNMA1 KIF5A VCP SLC1A2 ATP7B C12orf4 SPATA5 KCNA1 GRIN1 PROKR2 RTN2 THOC2 HNF1A EPM2A ATP13A2 MAPT B9D1 HNF4A TOMM40 TREM2 PIGQ IL17RD GABRG2 DNMT1 SIK1 AKT1 NPC2 SLC25A10 ARSA FRMPD4 RAC1 GRN SEPSECS ATXN2 CACNB4 GBA2 SPART TSPYL1 NSD2 MRM2 KATNIP ADH1C MECP2 BRAT1 VPS13A EP300 MT-TV TANGO2 PIGP MYORG MSTO1 OFD1 POU3F3 ABCB7 ALDH18A1 CUX2 GABRA1 SFXN4 ABCB4 TBL2 MT-ND5 GABRA2 PDE10A FXN PLCB1 CHAMP1 DEAF1 WASHC4 TWNK ADCY5 GABRA3 SLC2A1 ADPRS SLC45A1 GFM2 NLGN4X ZFYVE27 GALC TBC1D24 TIMM50 ADNP BRSK2 SCARB2 HESX1 MRE11 CTLA4 NKX2-1 PDK3 PSEN1 MT-ND6 PMPCA MYO5A WDR45 CARS1 SLITRK1 SYNE1 NTRK2 FGF8 TSEN54 POLG2 NUP62 PSEN2 TTI2 HINT1 FBXO31 ERCC8 LIMK1 CDKL5 MT-ND4 SARS1 GPAA1 SLC25A11 KCTD17 COL6A3 SCN1B MT-TL1 RPE65 FOXG1 CLN6 DCAF17 AIFM1 AHI1 NFASC NDUFS2 NDUFA1 CACNA1A GABRD TSEN34 TANC2 SLC44A1 GAMT PANK2 ABCB6 SMS SPTBN2 SNX10 CARS2 CEP126 MT-ATP6 ZC3H14 YWHAG RAB11A MED12L STXBP1 MYBPC1 NSUN2 PTCD3 CCDC88C HMGCL KDM5B GRIN2A KIF1C TARDBP ABCA7 NOVA2 EPRS1 DCC SLC46A1 NHLRC1 TYROBP MOCS1 GNAO1 NR4A2 OPTN PGAP2 SEMA3A CHMP1A MPZ TMEM216 KCNB1 RLIM RHOBTB2 HMGA2 TSC2 RFC1 POLG SLC30A10 MT-TF SOD1 VPS13C GMPPB MED25 GNA11 AUH CTDP1 TCTN1 AARS1 DAB1 PSAP CRKL UGDH TRPM3 ATN1 GRIN2D SYNGAP1 FLCN PEX10 BSCL2 HLA-DQB1 NTNG2 GCH1 HECW2 MT-ND2 DNAJC6 DLAT UBE3A MAN1B1 ATP1A2 AP4S1 BICD2 WDR11 EXOSC3 CYP7B1 EDC3 PPP2R2B ACBD5 ITPR1 SLC16A2 STARD7 PRNP SYNJ1 CACNA1S ERCC2 AP4B1 TOR1A SLC6A5 BEAN1 TAT RORB NONO DNM1L GTF2H5 NUS1 TPP1 MMAA KCNT1 DCTN1 KIRREL3 NF2 CEP120 PTEN ST3GAL3 PNPLA2 ATXN3 PLA2G6 ATP7A NDUFB8 CACNA1D NSD1 TAF1 XPNPEP3 RAPGEF2 MMACHC FA2H SERPINI1 EEF1A2 SDHC HCFC1 SET WDR81 RSRC1 PIBF1 DLST ZFR ZEB2 SPTAN1 CLPB FGF14 ELN CIC PRRT2 GLRX5 PRKRA EFHC1 COQ5 SPOP MT-TW COQ2 GABRA5 AMACR IREB2 MRPL12 OCRL SDHA DPAGT1 PRKN COG8 KNSTRN GCK NAGA ATXN8OS FBXW11 NKX6-2 MICU1 TSEN2 TRAPPC6B MORC2 KISS1R SELENOI RERE PLPBP NDUFA4 MT-TP KIF1B SCN9A NUTM2B-AS1 PGAP3 ATP6AP2 SURF1 VPS37A RNF113A ERCC6 PHACTR1 LRRK2 PODXL COX4I1 ACO2 FTL SLC25A15 MBOAT7 PIGV FGF17 GCDH CASR ABCD1 VPS35 EPAS1 CLIP1 VPS53 TCIRG1 ATCAY CP TNNT1 DDC POLR3A MBD5 GABRB2 GLUD2 NDST1 FEZF1 CACNA1B LEMD3 PIK3CA FUS TNFSF11 JPH3 AR PGM3 MED23 PLP1 HIBCH SDHAF2 FAM149B1 GTF2IRD1 SCN2A SZT2 CRBN POGZ PNPO PC TMEM106B NLGN3 CSNK2B AP4E1 ATAD1 GRIN2B CILK1 DRD2 THG1L RFC2 DARS2 SNCA GLYCTK AFG3L2 PDE6D GABRB3 SLC25A46 PTS RAI1 AFF2 MT-TS2 GATAD2B PRICKLE1 PCBD1 OPA1 GUF1 KCNQ3 FBXO38 DYRK1A C19orf12 BCR ADAR PNPLA6 PIK3CD ADA2 PINK1 DENND5A KIAA0753 STX1B TSHR PRPH PDGFB FAM126A PIGA ERLIN2 GLRB TCTN2 PSAT1 HCN1 CDK19 FOXP1 EXT2 MT-ND4L AGTPBP1 NAGS AP5Z1 VAPB PRODH PNP PET100 SMN1 SCN4A KCNJ10 HSPB1 SLC25A42 EHMT1 CEP41 BOLA3 SETD2 METTL23 POLR3B SNRPN UGT1A1 EIF4G1 DHX30 EPB41L1 NOTCH2NLC NEUROD2 ADAMTS13 PNKD KCNQ2 KCNK9 HS6ST1 GLDC GOSR2 TMEM237 FXR1 CPLANE1 ADSL MFN2 SMO SDHD MT-ND1 ANO10 EIF2AK2 MMUT CHCHD2 SCN8A MT-CO3 DOCK7 CC2D1A HSD17B10 RET ATRX NDP POMGNT1 CUL4B STX16 GPT2 TBCD PRDM8 OPA3 REEP1 TRIM8 STUB1 NR2F1 SPG11 SAMD12 NDE1 ARID2 SLC6A1 HPRT1 TOE1 HTRA2 TREX1 MT-TQ PNPT1 CACNA1G SLC17A5 PRDM16 XPR1 PIGY GRIA4 PFN1 NEU1 CLCN4 UROC1 KCND3 TPI1 TARS1 TBR1 PEX2 MME AARS2 PPP2R5D AIMP1 SLC13A5 ATP2B3 CCT5 PHGDH NPHP1 ADRA2B MDH2 RNASEH2A DRD3 TBP CIZ1 YEATS2 SOX10 AP2M1 MT-CYB C12orf65 ATM CYFIP2 TSC1 MARCHF6 HDAC4 APTX TRAPPC9 HPCA CASK DLL1 SYT1 PITX3 HTT ZFYVE26 FARS2 PIK3R5 APP FBXO7 PIGO BAZ1B MKS1 MYOT SMC1A ATP8B1 SCN1A GJB1 ARX DNAJC19 TBK1 SGCE GIGYF2 WARS2 NGLY1 TH TIMM8A PROK2 RARS1 TRIO COA7 ACAT2 RMND1 KIF1A TMEM231 ITM2B OCA2 SLC18A2 NEFH PARK7 MYH14 STAMBP VAMP1 DPM1 LNPK SLC25A4 DHDDS CWF19L1 IQSEC1 JRK RNASEH2B CD28 ARV1 HSPD1 PIGW SQSTM1 ATXN10 ABHD12 ERLIN1 NEXMIF UCHL1 SMARCE1 PDGFRB AP1S2 PRPS1 TTPA SLC6A17 KMT2A SAMHD1 ATL1 HDC NDUFA13 TSEN15 CYB5A SLC33A1 ZMYND11 NTNG1 NECAP1 CAPN1 CPLX1 CDH23 TAOK1 SMPD1 GTPBP2 GTF2I MYT1L IFRD1 TGM6 ABCC8 DHFR FRRS1L SLC25A22 UBQLN2 SLC25A13 MT-CO1 GNAS ASH1L NACC1 MEN1 SPR CHD1 SCP2 PRUNE1 CRADD SLC20A2 SMARCB1 CLCN2 KCNC1 CHD2 CHMP2B QDPR TMEM67 AUTS2 PCDH19 GSS TNRC6A INPP5E GLRA1 TRAPPC11 ALKBH8 RAB3GAP2 THAP1 UFC1 CREBBP SACS HIKESHI PMP22 SHMT2 SLC5A7 COQ8A CYP27A1 CNTNAP2 GRIK2 MPLKIP HERC2 IRF2BPL SLC39A14 BRAF SCN3A KCNJ18 SIGMAR1 MT-TK CLN8 CDH15 KCNA2 PURA DNAJC5 IQSEC2 NOL3 RNASEH2C ATP1A3 CERT1 DOCK8 CAMTA1 SH3TC2 UBTF CEP104 NEMF NOP56 GBA ATXN7 IFIH1 MTFMT RAB11B GJC2 GLA RPGRIP1L LARP7 MED17 TRAF7 SLC6A8 RFT1 TKT ASAH1 PGK1 CSPP1 LMNB2 SLC2A3 NAXD CLTC GRM1 LETM1 KYNU CACNA1E VHL ALS2 VWA3B KPTN HIVEP2 ITPA UBA5 NDUFAF3 PPP3CA DYNC1H1 C9orf72 PGAP1 AMPD2 VRK1 SC5D ABCB11 OSTM1 TTR MAPK1 TNFRSF1B KCNAB2 SUFU DMXL2 SDHB FMR1 SUOX HNRNPA1 LMAN2L COX20 WASHC5 NSMF ST3GAL5 ANO3 TNFAIP3 TK2 KCNQ5 CAMK2A MAX MAPK10 DDOST PPT1 CLN5 CSTB ADGRV1 GABBR2 SLC9A6 MACF1 ACP5 CNPY3 PRKCG FGFR1 WDR26 XPA TACR3 TBC1D23 RNASET2 SLC25A21 CNKSR2 GALT SLC12A6 BCORL1 SLC9A1 TENM4 TECR NDNF PDHA1 NAT8L SNCAIP ACTL6B RYR1 PIGT POMT2 TCTN3 CTH LRPPRC ELOVL5 DNM1 SEMA6B PIGC TSFM EXOSC9 RAB18 KMT2B SCYL1 WFS1 MARS1 MGAT2 ERCC4 SLC6A3 CTSF PPP1R15B NR1H4 MTPAP TMEM70 EXTL3 TXN2 NAA10 NIPA1 CTC1 TUBB4A ASXL3 DNAJC13 FLII NAXE KIF15 REEP2 ZNHIT3 KIF7 MAOA HEXB MRPS34 FOXRED1 GTF2E2 AMT LIAS FH SLC52A3 ZSWIM6 POLR1C ATP5MD MOCS2 GM2A CACNG2 MICOS13 SPAST PRSS12 NDUFA9 SLC30A9 BAP1 PNKP TBX1 MEF2C CAMK2B FMN2 PIGN PDYN NRXN1 NARS1 PUM1 LMNB1 SOX5 CHCHD10 ARL13B POMK TRAPPC12 POU3F4 TMEM63A CRAT ATP6V1A SKI CA8 ELP2 CERS1 ATXN1 RAB39B PIGL TFG OPHN1 FLVCR1 MTM1 UQCRQ NF1 SCO2 MT-TH SMN2 VAMP2 GRIA2 TUBB3 CCDC141 PRDX1 HYLS1 KCTD7 RNU12 VLDLR LAMA1 TERT CYB5R3 CC2D2A ERCC3 FGF12 CHD7 ZNF142 UBA1 MECR KCNC3 RRM2B HNMT GGT1 CNTN2 DDX6 CACNA1H TMEM127 DALRD3 B3GALNT2 MT-TI SLC39A4 TUSC3 APC2 SLC1A4 SAMD9L SLC6A9 SUCLA2 TNIK PAH EZR AP3B2 FBXL4 TTC19 CCDC88A VPS13D LINS1 KIAA0586 CLN3 NUP214 NDUFV1 PTCHD1 SLC52A2 CLCN7 OXR1 DNMT3A CTNND2 CTBP1 MADD KAT6A NDUFAF5 ARL3 FGFRL1 WWOX CAV1 LRSAM1 FLRT3 HNRNPA2B1 DUSP6 HMBS SPRY4 SNORD118 PARS2 CUX1 ELOVL4 RTTN SORL1 DYSF ERCC5 USP8 CACNA2D2 MT-ND3 POMT1 EBF3 TCF4 RORA MT-CO2 PEX6 HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY IDUA CLIP2 TBL2 MLX ACTN2 ERAP1 TLR4 CSRP3 IL17RA VCL IL17F PRKAR1A UBAC2 CCR1 PDGFRA TAZ STAT4 BAZ1B LIMK1 HLA-B MEFV ELN KLRC4 IL23R GATA4 MYH7 GBA IL10 FAS GTF2IRD1 GLA IL12A IL17RC GTF2I SP110 ENPP1 GJA5 LDB3 NR2F2 SLC22A5 CLEC7A ABCC6 RAF1 RFC2 GATA6 IL12A-AS1 CRELD1 IL12B C4A MYL3 BRAF PTPN11 TRAF3IP2 HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART NME8 DNAAF5 SPAG1 UBR1 RPGR DNAAF4 CFAP300 INPP5E NODAL LRRC6 ARMC9 DNAH5 RSPH4A CEP41 TMEM216 CSPP1 MYRF TP63 CCDC151 CRELD1 PRRX1 BCOR TMEM231 TGDS CCDC40 RPGRIP1 HYDIN MKS1 ACVR2B ANKS6 DNAAF1 B9D1 TTC8 CCDC114 CEP55 CCDC103 HES7 CFAP298 TCTN1 PIEZO2 CC2D2A LRRC56 GDF1 TCTN2 DNAH9 MEGF8 TTC25 NECTIN1 ZMYND10 DNAAF3 CFAP221 CCNO PQBP1 IRF6 DNAAF6 KATNIP DNAI1 SPEF2 ZMPSTE24 B9D2 WT1 PKD2 DRC1 EVC DYNC2LI1 DNAH11 GLI1 ARL2BP STK36 RSPH9 KIAA0586 NEK10 CCDC65 NPHP3 CFAP53 LZTFL1 DNAAF2 ARMC4 TMEM107 TMEM237 SRCAP RSPH1 SLC19A2 GAS2L2 DNAH1 TTC12 GAS8 CEP120 LMNA TMEM67 MSX1 DNAL1 WDPCP ARL3 ARL13B CDH2 RPGRIP1L ZNF423 DNAI2 PIBF1 NEK8 AHI1 MMP21 INVS EVC2 DNAJB13 COL18A1 MCIDAS OTX2 MNS1 CEP290 ZIC3 FOXJ1 CFC1 OFD1 CCDC39 RSPH3 CEP104 HYLS1 CPLANE1 HP_VENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ARRHYTHMIA MT-ND1 SCN1B KCNQ1 TRDN SCN5A MT-TS2 NDUFB11 TMEM43 MT-CYB CACNA1C KCND3 LMNA PKP2 PLN CAV3 MT-CO3 GPD1L KCNE2 CALM1 MRPS14 SNTA1 NAA10 SCN2B MYBPC3 JUP RRM2B MT-ND2 SEMA3A MT-ND4L MT-TF CACNB2 TWNK MT-TQ KCNE1 DSG2 ACADVL IFNG CDH23 SCN10A AKAP9 NDUFS2 GJA5 MT-TW SCN4B MT-CO1 MYL2 CDH2 KCNE3 FHL1 HCN4 KCNJ8 TGFB3 CACNA1S RYR1 PRKAG2 TANGO2 MT-ND6 MT-TK KCNH2 TSC1 POLG SLC25A20 MT-ND5 DSP TCAP MT-TC GABRA3 NOS1AP MT-TL1 ABCC9 SCN3B BMP2 ALG10B CALM2 CLCNKB KCNJ2 LAMP2 GTPBP3 DPP6 MT-TV MYH7 POLG2 EMD RYR2 MT-ND4 GYG1 TNNC1 SLC12A3 CALM3 ACTC1 SYNE2 DTNA KCNJ18 MT-CO2 TNNI3K LDB3 RAF1 MT-TH SLMAP GAA MT-ATP6 SCNN1A RANGRF DSC2 GNB5 TSC2 CACNA2D1 TRPM4 MYL3 SYNE1 KCNE5 KCNJ5 MTFMT ANK2 SLC25A4 HP_VENTRICULAR_PREEXCITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_PREEXCITATION TSC1 MT-ND1 MT-ND5 TCAP MT-TC MT-TS2 MT-CYB MT-TL1 MT-CO3 BMP2 MRPS14 MT-ND6 LAMP2 GTPBP3 MT-ND2 MT-ND4L MT-TF MT-TV MT-TQ MT-ND4 IFNG MT-CO1 MT-TW NDUFS2 MT-CO2 MT-TH GAA PRKAG2 MT-ATP6 TSC2 MT-TK MTFMT HP_ABNORMAL_MACROPHAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY LYST SLC7A7 NPC2 SLC29A3 PRF1 SMPD1 ASAH1 NCF2 NCF1 STXBP2 CYBA UNC13D CYBB HLA-DPB1 LIPA HAVCR2 OSTM1 PTPN22 HLA-DPA1 SGCG STX11 PRTN3 CD27 NPC1 XIAP SH2D1A IFNGR1 APOE RAB27A SAMD9L CTLA4 NEU1 GLB1 HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY ANK1 GCLC GYPC CASK FANCE TERC FANCA SEC23B PGK1 SPTB TSR2 SPTA1 EPB42 FAS CFHR1 RPS24 RPS17 MYSM1 SLC4A1 RPL11 RPS19 ABCG8 SBDS RPL15 PIEZO1 HK1 RPL35A RHAG ADA2 PFKM PKLR RPS10 RPL35 PRKCD RPS7 FANCC IFNG RPL31 RPS26 TERT TCN2 CDAN1 ABCB6 CDIN1 KLF1 SLC2A1 CASP10 CFH EPB41 GATA1 RPL26 CPOX G6PD RPS28 RPS29 KCNN4 RPL18 FANCD2 RASGRP1 HBB NHLRC2 ADAMTS13 RPL5 HBG2 STEAP3 PRF1 CLCN7 MTTP RPS27 RPS15A CFHR3 FASLG RPL27 HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL CLCA4 CR2 CASP8 RNF113A CXCR4 IL6R IL2RG TONSL CD19 DCTN4 JAK3 CD79A RMRP CAVIN1 ICOS MS4A1 CTLA4 TTC37 EXTL3 SPINK5 RAG2 FAS COG6 TCF3 PIK3R1 CCND1 MTOR RASGRP1 DCLRE1C LRRC8A SLC35C1 VPS33A IL21 RAG1 ZBTB24 PIK3CD RIPK1 TFRC GTF2E2 TNFSF12 SP110 CD3D CD81 IRF2BP2 CD55 SLC25A13 DNMT3B NFKB1 CD79B NHEJ1 PRKCD CNBP BACH2 XIAP IGHM FLNA SLC7A7 PMM2 EPG5 IVNS1ABP ATP6AP1 NFKB2 STXBP2 CASP10 RFX5 BTK CD3E SON IKBKB HELLS CD70 TCN2 CFTR SKIV2L CTPS1 CIITA CCBE1 MPLKIP ZAP70 IGLL1 TGFB1 RAC2 CDCA7 BLM RNF168 FASLG ITCH MTHFD1 RFXAP TNFRSF13C MAGT1 NBN ADAMTS3 ATM ERCC3 PIGT RFXANK CARMIL2 MYSM1 STX1A TP53 ERCC2 IKBKG STAT3 BLNK B2M ZEB2 MOGS CD247 SLC46A1 HYOU1 SLC5A6 ATP6AP2 TNFRSF11A LRBA SH2D1A IL2RA IKZF1 TARS1 CISD2 UNG GTF2H5 MAN2B1 TNFRSF13B PTEN ALG12 RNU4ATAC CD27 FAT4 LAT AK2 AICDA ADA2 CD40LG BCL10 CARD11 CD40 TRNT1 RTEL1 WAS LAMTOR2 MSN TIMM8A SH3KBP1 PLVAP KNSTRN ADA CSNK2A1 SAMD9L PLCG2 NFE2L2 RBM8A ITK HP_DECREASED_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGG_LEVEL JAK3 CR2 PMM2 EPG5 PIK3CD IVNS1ABP CASP8 CXCR4 ATM IL6R IL2RG TONSL CD19 SPINK5 RNF168 CASP10 ICOS CTLA4 EXTL3 RAG2 TNFRSF13C FAS TNFRSF13B CD3E SON RAC2 RASGRP1 DCLRE1C TCN2 AICDA VPS33A CD40LG ERCC2 RAG1 CTPS1 CD40 CD247 B2M CD3D SP110 SLC5A6 PRKCD LRBA CNBP BACH2 SH2D1A KNSTRN ADA BLM CSNK2A1 XIAP UNG ITK FASLG HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL CYP11B2 NR0B1 MRAP CYP11B1 NR3C1 CYP11A1 TXNRD2 HSD3B2 HSD11B2 SCNN1B AIRE AAAS MC2R NR3C2 STAR NNT HP_VAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_FISTULA JAK3 WDR35 SALL4 UBR1 IL10RB DACT1 SALL1 IFT80 RECQL4 POLR1C SPINT2 MNX1 CCNQ POLR1D POR DYNC2H1 LONP1 DYNC2I2 FREM1 KIF7 MKKS DYNC2I1 TCTN3 TCOF1 HP_INCREASED_BODY_WEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_WEIGHT RHO CLIP2 WT1 CYP7A1 ANOS1 MC4R CD46 ARL13B ADRB2 AP4M1 XYLT1 LARS2 TBX1 ATRX PRMT7 KIDINS220 SMARCE1 EYS DMD MOG DLK1 GDI1 ADCY3 DPYD RP2 RPGR PROKR2 MTOR PRPF4 BBS12 PDE6B IFT27 THOC2 HNF1A MLXIPL BBS4 HNF4A AKT2 SAG IL17RD PRKACA MAGEL2 ZNF711 MAN1B1 HDAC8 SEC24C IFT140 CTNNB1 CFI BLK NRL SNRPN ARHGEF6 ABCC8 GTF2I CEP164 FXR1 MYF6 MECP2 C8orf37 NDN TAF1 FHL1 ANK3 FIBP EP300 MEN1 PDE4D PHKA2 SMARCB1 BPTF ARL2BP RP1 ARMC5 TBL2 RBMX AHI1 SHOX IGF1 DEAF1 GABRA3 POMGNT1 CLRN1 MEG3 EGF GP1BB UPF3B SMC1A ADNP HESX1 HSD11B1 PHF6 HERC2 IQSEC2 CREBBP PHKG2 NTRK2 FGF8 PWAR1 MC3R APPL1 LIMK1 P2RY11 SIM1 ZNF513 AKT1 HCRT KCNJ18 PCARE CTSH AFF4 FTO RP9 ALB PROK2 BBS7 ARL6 BIN1 HUWE1 ODC1 ALMS1 FSCN2 NPAP1 SUFU BLM BBIP1 HLA-DRB1 SMC3 SNORD116-1 IFT172 MTFMT MEGF8 MTTP RTL1 TRAF7 HLA-DQB1 USP7 DCC IGF1R PCNT EIF2S3 KIF7 FGFR1 KIAA1549 NEK2 SIN3A BBS5 SEMA3A GNAS-AS1 PIGA PAK3 CERKL DNMT3A COMT AIP INS IFT88 KLF11 MKRN3 SETD1A SNORD115-1 TNFSF4 GNAS TTC8 UBE2A DYRK1B POMC EHMT1 MCM3AP RGR GCK SHANK3 IMPDH1 USP8 DIS3L2 TRIM32 PKDCC ERMARD PSMD12 ZNF365 AGTR2 PIGL ENPP1 UBE3A COA3 CEL AP4S1 WDR11 RAB23 BBS9 CNKSR2 KCNAB2 PAX6 EXOC6B ZBTB20 CACNA1S AP4B1 LEP LZTFL1 BBS10 SRY STX16 NSMF SETD2 CANT1 PNKP TRAPPC9 ZNF41 SOX3 NF2 HACE1 OCA2 USH2A RPE65 AGBL5 LMNA SLC9A7 LEPR ARHGEF18 KCNJ11 FRMPD4 KMT2C KMT2D CDHR1 TACR3 CXorf56 PRKAR1A ELN NPHP1 GATA4 GABRD ZNF408 APOE HGSNAT BRAF NDNF RBP3 SLC10A7 CA4 SH3KBP1 ATP7B PIGT FTSJ1 PDE11A AGRP HCFC1 PTCH1 RAD21 ABCA4 PCSK1 TRAF3IP1 KISS1R RERE TMCO1 RNF135 SPG11 SLC7A14 ATP6AP2 TBX3 GLI3 UCP3 WDPCP TMEM43 SNRNP200 TOPORS GHRL PHF21A KDM6A SH2B1 FGF17 MTMR14 SEMA4A UFD1 FLII IDH3A CNGB1 MAPK8IP3 FEZF1 RAI1 BBS1 THRA ACADVL BBS2 GTF2IRD1 RPS6KA3 CARTPT POGZ SCAPER VPS13B AP4E1 IGSF1 RREB1 H6PD PDE6A RFC2 RYR1 KIZ RP1L1 TRIP12 HIRA BAP1 DLG3 NKAP INPP5E NIN KLHL7 CFH PIGN LRAT TRIP4 TMEM67 CRX SMAD4 PDGFB SETD5 TCF20 FOXP1 GHR USP9X BDNF POU3F4 SKI PROM1 EMD COL10A1 OTX2 PDX1 SYNE2 DNM2 FGFR3 MED12 NR0B2 NEUROD1 IMPG2 OFD1 DYNC2I2 ACSL4 HS6ST1 JMJD1C AHR HELLPAR CCDC141 MAK SMO EDNRB PDE6G LIPE SLC7A7 PHIP CRB1 FMR1 TERT SLC25A4 MRAP2 CYP19A1 MKS1 ZNF81 CHD7 SPATA7 CUL4B PRPF3 PRCD ADRB3 HDAC4 TUB ARNT2 PAX4 RDH12 SYP MYT1L ATP10A RNPC3 CEP290 DDX6 CEP19 MID2 P4HTM TULP1 DHX38 SDC3 LAS1L CCDC28B MKKS NIPBL HERC1 WAC SDCCAG8 RLBP1 CNGA1 NR2E3 PRDM16 KMT2A IFT74 PNPLA6 CNNM2 CLCN4 ALG13 PRPH2 REEP6 CHD8 ARL3 XRCC4 GUCA1B UCP2 IDH3B PTCHD1 ARVCF TSPAN7 RAB39B PWRN1 SOX10 BEST1 CDH23 PRPF31 FAM161A USP27X ARX PRPF6 ABCC9 MERTK PPARG PDSS1 BAZ1B FLRT3 DUSP6 IGFALS SPRY4 ROM1 PRPF8 SOX2 IL1RAPL1 PIK3CA PTEN SYNE1 TP53 DHDDS WNT4 HP_DECREASED_BODY_WEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_BODY_WEIGHT CLIP2 CR2 JAK2 NDUFA4 NODAL UNC80 GNB1 STT3A CTNS SLC9A6 BRCA1 PMS2 ATXN7 HSD11B2 SLC1A2 NFU1 CYP11B2 DIS3L2 KCNA1 BCL10 PEX6 ARCN1 PREPL KANSL1 STAT4 SIK1 MAGEL2 PRF1 SNRPN IL23R ARHGEF6 CD3D NSD2 DHCR7 PIK3R1 ASXL1 TGFB1 JAGN1 PEX10 NSUN2 ACTL6A RNU4ATAC LAMA3 NDUFA12 COL1A1 VPS13A MT-TV GLI1 IL7R ABCB4 JAK3 MLH3 BRF1 B3GALT6 GABRA2 PEX5 KRT14 DEAF1 EGFR PEX26 LCK RARA MEG3 XRCC2 GP1BB TIMM50 MTO1 HYMAI NELFA NRTN SLC34A1 MCEE IKBKB COL6A3 PYCR2 SDHA AKT1 CARS1 LAMC2 GOT2 GAA BRAF SKIV2L NDUFA1 AVPR2 POLG2 NBN PTCH1 DLL1 RNF13 GRIA3 GRM7 HLA-DRB1 SCN1B TOP3A UQCRFS1 CERS3 NNT NFASC NDUFS2 COG7 CYP24A1 GMNN ADAM17 EWSR1 DCLRE1C NEB NPAP1 CARS2 HPDL RAD51 TRPV4 YWHAG SMC3 KIF7 SNORD116-1 CIITA PTCD3 GRIN2A MLX CENPT TNFRSF13C TET2 VPS45 NDUFAF1 IGF1R SELENON ITGB4 PDE8B HSPG2 NABP1 SIN3A TTC37 NR0B1 CDC73 TMEM216 KMT2E FANCD2 KCNB1 MKKS MKRN3 POLG MT-TF FDFT1 C12orf65 GPT2 EPHX1 PDE11A MRPS16 RAG1 SERAC1 MYH7 FLCN TDGF1 GDNF SCNN1A PEX2 RIT1 SEMA3C TACO1 CNKSR2 PIK3CA IGHMBP2 DYNC2LI1 BRCA2 TRAIP CACNA1S BMPR1A SLC34A3 EHMT1 EXT2 PEPD NONO MPV17 ACTB TRAK1 UBE3B RBM10 ERAP1 MYL2 CSF2RB LRP12 ACTA1 NIPAL4 OCA2 MBTPS1 HMGA2 LIPA SLC19A3 NDUFB8 FRMPD4 SCN3A ASNS KMT2D DDX3X ATP6V1E1 PSMD12 NFKB2 STOX1 B4GALT7 GLI2 PTPN22 RUNX1 DYNC2I1 ZEB2 SDHB NOD2 MEFV HLA-B GABRA5 COG4 FGFR1 MYPN OCRL CIT RPL5 IGF2 WNT2B ERCC4 HCCS MAD2L2 COG8 AGPS FTSJ1 ALOX12B HCFC1 CD79A ADA WDFY3 RERE RTL1 SLC12A3 RRM2B VPS33B MMADHC SURF1 PQBP1 NTRK2 DNAJC3 CD96 MAFB VPS35 NDUFS6 STAT3 UFD1 TPM3 TRMT1 SEC23B FAN1 MED13 SDHAF2 GTF2IRD1 SZT2 PNPO BMP1 UBR1 PALB2 GLYCTK PDE6D RAG2 AHDC1 CYP27B1 FBN2 MT-TS2 PEX14 MCCC2 STAT5B DYRK1A ERCC2 PMM2 CDKN1B ARPC1B HADHB LMNA COL6A2 TK2 GATA1 TGM1 RFX5 BCAP31 HPD HCN1 CDK19 SDHD TMEM126B FOXP1 NDUFAF6 SLC39A4 PTRH2 SSR4 INSR MT-ND6 RFT1 ASAH1 SARS2 ZAP70 ADAT3 CAVIN1 TWIST2 RARB KDSR SLC22A5 ALDOB LIPT1 IL12A-AS1 TPM2 ZIC3 CBL JMJD1C LPIN2 NDUFV2 IKZF1 ATP5F1A RPL27 SLC7A7 TP53 FMR1 CYP19A1 ERCC3 ASCL1 FANCA LAMB3 UBA1 RET NDP FOXH1 KRAS SIX3 CYP17A1 FGF8 CDKN2C NSDHL SHH PLAA NDN NDUFS1 MMUT KRT17 LARP7 NDUFS8 ACTG1 PSMB4 SLC5A1 NIPBL HERC1 KRT16 GALK1 SON KBTBD13 CDON PIEZO2 HACD1 RPS7 RYR1 COPB2 RAI1 ORC6 MAP2K1 CLCN4 COX15 COL4A6 ALG13 NDUFB9 PCGF2 SFTPC GJA1 MYH3 GNPAT PHGDH COX7B RLIM PHOX2B COL12A1 SLC4A1 PTCHD1 NDUFS7 EFL1 SLC26A3 DACT1 GATA6 CYFIP2 NUMA1 TALDO1 CDC45 SMC1A ATP8B1 MRAP ECE1 FIP1L1 ARX H19 MPL ESR2 FANCL STRA6 EVC2 EBP ORC1 TGIF1 CDKN1C ATM GCDH NDUFS4 IFNGR1 RIN2 KLHL7 BIRC3 PCLO ARFGEF2 STAMBP CSNK2A1 SARS1 SLC25A4 TBL1XR1 DKC1 ABL1 ARV1 STRADA IL2RG PNPLA1 GABRG2 KCNJ1 TSR2 TRMT10A KMT2A HNRNPH2 NDUFA13 MT-ND1 MLXIPL ANKLE2 CYB5A TAF13 CYP2R1 RIPK1 CPLX1 TFRC CDH23 PEX1 OTULIN CD81 GBA ATP6V1A RPS19 SCN8A MPDU1 SETBP1 PTEN USF3 HFE ABCC8 BCOR MT-CO1 MT-ND2 FANCC EVC DLK1 SLC17A5 MRPS7 NACC1 CLTCL1 AUTS2 IGF1 NPHS1 SLC25A22 NDUFAF2 CDC6 ACVR1 DAXX PPP1R15B PEX13 UFC1 TNFSF12 CREBBP RMRP PHKG2 DHCR24 PWAR1 TRIO CASK NLRP1 KIF1B NDUFAF3 AVP IL12A KCNJ18 SIGMAR1 CCDC47 SPR FAM111A ACSF3 HLCS ERCC1 NFKB1 SCO1 NFIX PEX3 NDUFA6 LRRK2 COQ7 CLCNKA PROK2 MT-TK CDKL5 NDUFV1 FLT1 TTN RECQL4 RFXAP MED17 SPRY4 TBX1 POLR1C EIF2S3 SLC3A1 GNPTAB ABCB11 ABCA12 SLC2A3 MRPS14 F5 MRPS2 IFIH1 VIPAS39 LETM1 POLR3A FLNA ALG8 BLNK UBA5 SLC39A8 PNPT1 KISS1R MT-CO3 NECTIN1 AGTR2 PEX7 CLMP SRP54 GATM AHCY PGM3 CTCF DMXL2 YARS2 NUBPL CA2 ANOS1 GNRHR GTF2E2 SYNJ1 HSD17B4 ST3GAL5 PRNP MT-TW ZNF41 LTC4S SLC12A1 BTK TYMP FGD1 IL1RN PDHX OSGEP ALG12 SOX9 SLC9A7 PKHD1 EDNRB KMT2C STT3B DPM2 JAK1 CD40LG TBC1D23 MED12 CTLA4 GJB4 SLC25A21 SDHC KCNA2 NR3C2 TNFRSF13B NDUFAF5 STXBP1 UBE2T MCM5 ATP7B ACTL6B TERT SMAD4 SCNN1B EHHADH CNTN1 TCF4 PCSK1 EXOSC9 PACS1 RAB33B TMEM165 PADI4 UMPS CASP8 NDUFB11 FANCF TIMMDC1 ATP6V0A2 KDM6A KCNJ6 COG6 ATRIP CCND1 THPO TUBB4A DNAJC13 FLII SBDS PARN PYGL ATR CKAP2L EXT1 NALCN FANCB STAT6 NSMF ACADVL HADHA IL10 RPS6KA3 MEGF10 MARS1 GPIHBP1 RREB1 DNAJC21 TANC2 CPLANE1 DISP1 CD79B RPL35 NAGS RPL31 HIRA AARS2 WT1 DGAT1 CLTC FZD4 NRXN1 FANCI COX5A LRP5 CAMKMT NSMCE3 CFTR CLCNKB BSND KCNJ11 COG1 GTPBP3 MT-TN GHSR TGDS SAR1B ACAD9 CA12 AKR1D1 THOC2 SCNN1G MSMO1 CHD7 POU6F2 NF1 IQSEC2 MT-TH NDUFB3 ACOX1 MSH2 PTF1A YY1AP1 MAP2K2 LIG4 DLL4 TAPT1 CYB5R3 UBTF FGF12 TGFBR2 STAR ATPAF2 GPC1 PRKAR1A PIGP PEX19 SYP BRIP1 NADK2 JAG1 KRT1 MID2 MDH2 PCNT TMEM127 SAMD9 DALRD3 NDUFS3 MVK ZNF711 LMBRD1 PPP3CA PRKACA PANK2 MPI FBXL4 MRPL3 PEX16 DEGS1 ZMPSTE24 SLC25A24 PAM16 TCN2 CEP57 PPP1CB GPR35 BANF1 NUP214 ZIC2 TCTN3 RAB3GAP1 HS6ST1 DNMT3A FOXP3 HUWE1 GYS2 CTBP1 ELAC2 TSPAN7 PMS1 PWRN1 CHRNA3 RPS26 WWOX SLC2A2 AK2 PLEC MCM9 WDR4 DOLK IL21R ELN GRIN2D USP27X SLC11A1 INS SPG11 TMPRSS15 BCORL1 GIGYF2 RPS20 SLC39A13 RFWD3 ERCC8 RTTN STING1 CHEK2 IL1RAPL1 DLD RPS27 PCCB MT-CO2 GAS1 CYP11A1 SUGCT PUF60 LYRM4 CDKN1A FDXR HESX1 COL6A1 TINF2 DMD LYRM7 MAP3K7 LARS1 BCS1L GDI1 TCF3 BTNL2 CEP152 XPC DDB2 MMACHC EOGT NOTCH1 PIGQ HDAC8 ROBO1 SP110 ALOXE3 CENPJ PMPCB FANCM ADA2 SLC25A13 PPM1B CDT1 KIAA0586 MSH6 BSCL2 ALG3 EP300 PHKA2 OFD1 PDHA1 BPTF ALDH18A1 EPCAM ASS1 TBL2 TBR1 MT-ND5 ALG9 ITGA7 DNM2 GABRA3 UPF3B WDR11 CD244 CCNQ KCNA4 MUSK HERC2 MYOD1 UBAC2 NUP62 VAC14 OBSL1 LRRC8A LIMK1 SLC25A11 NHLRC2 MT-TL1 FOXG1 ALG11 CORIN FTO PLK4 CACNA1A MALT1 GALC CENPE RAC2 C4A SIL1 RPS15A NDUFA9 DNMT3B BLM YY1 CPS1 CYP7B1 COX10 CHRNG WRN PKP1 PEX12 PLAG1 EPRS1 SLC46A1 SPINK5 NCAPG2 CARMIL2 COMT HRAS FUT8 HADH SNORD115-1 MADD CCR1 RPL11 MECP2 ACADS AUH AARS1 ZFP57 SHROOM4 ENPP1 PUS1 IRF6 RTEL1 RPS10 PRTN3 AQP2 MC2R RFXANK PDX1 TACR3 NUS1 SNX10 MMAA EXOSC8 DCTN1 DSP MCCC1 HLA-DPA1 DNA2 ACADM ERCC5 TXNRD2 RPS28 NDUFAF4 RB1 LAT METTL5 IGLL1 DLST BMP4 TLL1 VDR KAT6B FOS GATA4 STAG1 CSF2RA SPOP AIMP1 SPRTN MRPL12 CUL7 EMG1 EPG5 TSHR CLDN16 COL1A2 PYCR1 COA8 NFE2L2 COL7A1 POC1A POLA1 SEC31A NDUFA11 PEX11B OTC ATP6V0A4 POMP HLA-DQB1 COX4I1 ACO2 SLC25A15 TP63 TTR FCGR2A SIX2 MYT1L EPAS1 VPS53 SLX4 AMER1 MT-ATP6 ERCC6 IL21 GABRB2 LEMD3 POLR2A FUS JPH3 ITCH ADK TRIM28 NUP188 OCLN INTU FAS FAM149B1 PROKR2 ORAI1 DHDDS IL6 SRSF2 KLLN RPL15 RFC2 MTHFR NR1H4 CRLF1 SPATA5 XYLT2 RBCK1 NLRC4 ORC4 GALT GPR161 DDX6 KIAA0753 FLI1 PSAT1 CD3E SMARCC2 LBR USP9X PTPN11 CNOT1 AGTPBP1 PNP PET100 REST MCTP2 PLP1 SNAP29 KRT10 GATA2 PSMB9 MBTPS2 EIF4G1 KRT5 FANCE FBN1 NEUROD2 CASR SUCLG1 GK MRPS28 MT-CYB HSD3B7 STAG2 ZMIZ1 EARS2 ZNF81 CUL4B RHBDF2 TRIM8 PUS7 MIPEP SEMA3D HBB MMAB SVBP AGXT MTFMT CD247 MT-TQ CDK10 RPL35A NKX2-1 PRDM16 GRIA4 IL2RA MLH1 AGPAT2 MBL2 SLC13A5 ARVCF ETHE1 HTT CSPP1 PPP2R3C BAZ1B KLRC4 EEF1A2 NGLY1 ANTXR2 TRIT1 LAMA2 POMC POLR1D GNRH1 CD19 SEMA4A IRF2BP2 TRAPPC4 KISS1 DPM1 ICOS PPARG NEXMIF SUCLA2 LONP1 PRPS1 FARSB RELB LHX4 SKI HIBCH SLC35C1 MAP3K20 NECAP1 FBXW11 RBBP8 SEC24C GALE RBPJ PTPRC PSMB8 SMPD1 GTPBP2 GTF2I PML HBA2 NDUFB10 COX4I2 MTR PALLD IL12B SMARCD2 SGO1 CREB3L1 ALAD B3GLCT OTUD6B DOCK3 IGHM DNM1L FUCA1 ARHGAP31 SDHAF1 CCDC8 SYNE1 HIKESHI MT-ND3 PTDSS1 MS4A1 FAH CNTNAP2 TRIP13 ASL GCK SALL1 MICOS13 NTNG1 TCF20 EDN3 ALB IARS1 GPC3 NOTCH2 AMACR CRIPT DPYD PDHB SLC6A8 USP7 PIGB CNTNAP1 SLC25A3 PAK3 EIF2AK3 ECHS1 FOXRED1 ASXL3 MTRR VHL BCL2 PSAP ALS2 GBE1 WDR73 TWNK USP8 PTS CDKN2B ERMARD AP1B1 SC5D SCN2A KCNAB2 TAC3 POLE HBA1 FGF17 NOS1 ACD TJP2 TAZ SFTPB GJB3 COX20 GNAO1 KLHL41 MAX DDOST ABCC6 TCIRG1 RPS24 SLC35A2 SNCA TFAM WDR26 PUS3 RPL18 CXorf56 TGFB3 GABRD BAAT TRAC PLAGL1 MT-ND4 NAT8L LRPPRC NFKBIL1 MOGS DNM1 RAD21 KRT6A PIK3C2A NDUFA2 NPM1 NEUROG3 MGAT2 ZBTB16 DUSP6 TMEM70 ABCA3 ELMO2 MYMK RASGRP1 KIF15 TKFC NDUFA10 B2M HLA-DQA1 CDKN2A FH ZSWIM6 VPS13B ARID1B POR CALR TRMT5 TRMT10C VPS37A POLR1A VPS51 DLG3 PNKP SLC10A2 ADAR TRIM37 IFNG TIMM22 SETD5 RPL26 ZNF335 SIM1 RAD51C SYNGAP1 XPA ANAPC1 ATRX ACSL4 SMOC1 PCCA SLC22A4 PRDX1 ALPL ACAT1 CHRM3 MST1 AMPD2 IL2RB PNPLA6 GNAS RPS17 DGUOK SMARCA2 BUB1B CAV1 FIG4 THRB MEN1 CD3G AP3B2 LRBA CBS TLR4 ARMC5 RNF168 HAVCR2 MSX1 RAB39B BCL6 FGFRL1 DOCK6 G6PC3 RARS2 HMGCL CACNA1B COL4A5 RPS29 TBX4 TCOF1 TASP1 DPP6 HLA-DPB1 PARS2 NDUFAF8 FANCG NAB2 MTTP KRT6B PRKCD SCO2 HP_CACHEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CACHEXIA LPIN2 UNC80 SLC6A8 TRIM37 TET2 ERCC4 TYMP SUCLA2 FOXP3 HSPG2 CNTNAP1 MECP2 NDP CUL4B MAFB SLC9A6 ACADM ATRIP ERCC5 LIPA POLG CEP152 PSAP ALS2 ATR RRM2B SPG11 NALCN ERCC2 FUS COL12A1 NBN SCNN1A PCNT RBBP8 SCNN1G COL6A3 GBA BMPR1A CENPJ SIGMAR1 MPL PTEN CFTR PLK4 CALR EWSR1 SCNN1B ERCC3 CENPE TGFB1 TRAIP LMNA JAK2 TRPV4 COL6A2 GALC WT1 COL6A1 AKT1 HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY ARL3 LRP5 PROC P3H2 FZD4 BEST1 COL2A1 SF3B1 NDP COX7B PAX6 COL9A1 GNAQ COL11A1 TTR NDUFB11 BAP1 BCOR CTNNB1 LOXL3 CRPPA COL18A1 VCAN CYSLTR2 KCNJ13 NR2E3 ERBB3 TSPAN12 GNA11 RB1 RS1 HLA-A HCCS ATOH7 COL9A2 CAPN5 ZNF408 CRB1 NF2 COL9A3 HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY WDR35 RHO CLIP2 LRP5 WT1 FKRP SOX4 MCOLN1 FOXL2 CTNS GUCY2D ERCC3 HHAT MAG MT-CO3 BRCA1 DIS3L2 TUBB B9D1 GLB1 PEX6 ARCN1 KANSL1 CEP55 SAG SOX10 POGZ UNC45B STAT4 FGFR2 DNMT1 SLC45A2 CDH11 AKT1 B3GALT6 TBC1D20 MT-TK SNRPN SLC29A3 IL23R GBA2 MT-TE NSD2 DHCR7 CBS PIK3R1 GSN SMAD3 B4GALNT1 PEX10 KATNIP ACTL6A WDR37 WHRN FIBP C8orf37 B3GALNT2 SNAI2 EYS TMEM107 FGF10 BRF1 EPG5 DGCR8 BRCC3 AHI1 VSX1 SEM1 FAM111A PEX5 DEAF1 PEX26 ACTB AGBL1 GSR XRCC2 GP1BB LMX1B AGBL5 NELFA COL18A1 DYNC2I2 ERCC5 CHST6 RP2 LAMC2 SCAPER POLG2 GUSB ERCC8 CRYGB CLPB SLC20A2 RNF13 MBTPS2 HLA-DRB1 PCARE CERS3 GJB6 COL2A1 TGFB2 ATAD3A ZNF408 NPAP1 BAP1 RAD51 SMC3 DKC1 SNORD116-1 IGF1R POMK MAF GMPPA HSPG2 MOCS1 FOXE3 CHMP1A COL4A1 KMT2E FANCD2 PDZD7 MKRN3 ANAPC1 GJB2 TONSL ALX3 ASPH PEX7 SMCHD1 RGR IMPDH1 BUB3 GLA TGFBI DLL1 SOS1 UBE3A TWIST2 RB1 RAB23 PEX2 KCNH1 B4GAT1 NF1 BRCA2 ZBTB20 C12orf57 B3GLCT ELP4 EHMT1 ESPN TAT GNAS MPV17 ARL3 GTF2H5 GJA3 UBE3B NSUN2 FOXC1 ERAP1 CYP1B1 NIPAL4 COL7A1 OCA2 CEP120 SERPING1 RDH11 NSD1 POMGNT1 TBX1 GJA1 CHN1 FLNB KMT2D PSMD12 TRPV4 ARID1A GEMIN4 PPP1R17 PRKAR1A TENM3 ZEB2 SDHB NOD2 MEFV TGFBR1 HLA-B LIFR CRYBB3 IFT80 PRMT7 DAG1 NOP10 MTAP OCRL ANTXR1 MYOC CNBP KRT3 SLC4A11 RPL5 DPAGT1 CA4 LIPH ERCC4 HCCS MAD2L2 KIDINS220 ALOX12B CACNA1F WDFY3 PTCH1 PPP1R12A FBXW11 CRB1 REEP6 PAX6 RERE KCNMA1 KIT FLNA COLEC10 PGAP3 TMEM127 SNRNP200 NDP LTBP2 ZNF469 MKS1 SUMF1 PAX3 GALM PIGN UFD1 PYCR1 CHMP4B TUBGCP6 TRMT1 SEC23B KCNJ13 ANKRD11 TBC1D24 MED13 SDHAF2 GTF2IRD1 SALL2 MYORG FBN1 ESS2 KCNV2 PDE4D ESCO2 HLA-A PALB2 ELN WRN ANK1 GMPPB HARS1 FBN2 CRPPA SEMA3E PEX14 DST TWNK INPP5E TAP2 HPS1 DYRK1A ERCC2 ADAR LRAT NHS GNAQ LRP2 ZMIZ1 FAM126A GATA1 TGM1 LRP4 SDHD OVOL2 SLC39A4 NAGA CDH2 EPHX2 TUBG1 EXOC6B SDHA CEP41 SETD2 CHST3 KRT71 MYO5A KRT83 KDSR GZF1 LCAT FGFR3 IL12A-AS1 INPP5K FAM50A CRYBB1 JMJD1C POLH PTCH2 IKZF1 CPLANE1 RPL27 ALDH18A1 ETFA PPP2CA ZIC2 ANO10 PITX2 RDH5 CRLF1 LAMB3 XYLT2 RET MAB21L2 IARS2 WAS NEUROD2 NR2F1 VLDLR MIP USB1 MT-TS2 NDN NLRP3 CEP78 KRAS ACTG1 ST14 PNPT1 NIPBL GALK1 CRX ARL6IP6 MAGEL2 PEX3 PIGY RPS7 GDNF NEU1 TGFB3 LONP1 TFAP2A RAI1 KIF11 MVK COL9A3 COL4A6 UROC1 KRT86 TINF2 DMPK PEX16 YAP1 GNPAT PHGDH COX7B MED13L NPHP1 RLIM STS ALDH6A1 RNASEH2A CA8 CHD7 CRYAA DACT1 CRYGC WDPCP COL4A5 FLI1 CPT2 HPS5 RPGRIP1L AFF4 PITX3 CYSLTR2 HRAS PIGO ROM1 FANCL PHF6 TACSTD2 PEX13 LAMB1 PAX2 EBP ALDH3A2 SLC25A4 TAP1 GRHL2 GPR143 KLHL7 IDS GATAD2B PSAT1 TBL1XR1 KIAA1549 PIGW SALL4 AP3D1 SPINT2 KIAA1109 PNPLA1 BTRC TMEM231 TSR2 IGBP1 CHST14 VHL RPGRIP1 RPGR PDE6B VCAN MLXIPL LARGE1 MBD5 CPLX1 MYO7A PEX1 TYR GBA ATP6V1A RPS19 USF3 NDUFB11 TMEM67 RSPO2 PIKFYVE BCOR LYST BLOC1S3 AGK NACC1 CLTCL1 COL11A1 COQ2 FRAS1 AIPL1 TELO2 CC2D2A DDR2 MT-TC ALX1 ARHGEF2 CRYGS AIRE TRAPPC11 SMC1A RAB3GAP2 DYNC2H1 ITPR1 COL8A2 EPS15L1 CREBBP ATP6V1B2 COL3A1 PWAR1 OAT DHX38 ADAMTSL4 NLRP1 HERC2 MMP14 CEP290 IL12A MIR184 UBE2A COL1A2 CIB2 HLCS SMARCAL1 CTC1 ARL6 RNASEH2C COL5A1 RBP4 ALMS1 CEP104 MAB21L1 IFIH1 RECQL4 ZFHX2 VSX2 SPATA7 MAT2A POLR1C TMEM216 MARK3 GNPTAB DPF2 ABCA12 PMM2 PRDM5 LETM1 RS1 ARL2 AAAS CFAP410 C1QBP TAPBP FOXC2 MPZ MT-TQ SLC39A8 CNGB3 MPLKIP RETREG1 FZD4 MT-TW CTCF AASS PTEN TTC8 AP1S1 OPA3 APOA1 SUOX HNRNPA1 DGCR2 SRY GDF3 ABCA1 GTF2E2 SLC2A1 HTRA2 MSH6 OPN1MW CRYBA1 KMT2C RALGAPA1 XPA GJB4 GORAB GALT SOX2 CTSA PIK3C2A LOX LMNA FAM111B HGSNAT FH CPAMD8 POMT1 H1-4 UBE2T NTRK1 IDUA ZEB1 ERCC6 POLG PLK4 ATP7B POMT2 ABCA4 RAB18 KMT2B VCP APC HNRNPDL SMO REV3L KDM6A FGD1 KRT25 CRYBA4 COL5A2 APOA2 FLII ARID1B ELP1 RXYLT1 TRIM44 CLRN1 CRYAB FTL TERT FANCB NOTCH3 IL10 SRD5A3 COL1A1 RNU4ATAC RREB1 SEC23A MOCS2 COL4A3 TANC2 RPL35 RPE65 KIZ CYP27A1 RPL31 HIRA HPS6 RBP3 BEST1 KRT12 FANCI COL9A1 DSE MT-TL1 PACS2 TULP1 ENTPD1 BDNF ARL13B USP9X SLC2A10 PROM1 SUFU ABHD5 SIX6 EPHA2 PTH1R UROS MSMO1 POU6F2 IQSEC2 MT-CO2 TBX2 GHR PLOD3 MASP1 FAR1 CHD4 GFER PDE6G CTDP1 DLL4 SF3B1 COL4A4 FGFR1 SCARF2 PXDN SIL1 PTPN22 PIGT CYP7B1 PRCD TUB PEX19 RRM2B BBS1 BRIP1 JAG1 EMC1 GALNS MT-ND1 FBXL4 KMT2A IMPG2 ZMPSTE24 CRYGD KIAA0586 PCSK9 CLN3 DYNC2I1 PRPH2 KRT81 RAB3GAP1 GUCA1B CTBP1 PWRN1 KAT6A SREBF1 TRAPPC2 RPS26 NR2E3 TWIST1 CAV1 GCNT2 PRPF6 CSPP1 TDGF1 PLOD1 OPA1 BCORL1 OFD1 IKBKG HNRNPA2B1 FOXH1 WAC RFWD3 ALG8 KCTD1 PHYH MT-ND5 PORCN RPS27 PLEC MAPRE2 PLCG2 ARSG ERCC1 ARSB DSG4 ARMC9 FDXR CHD3 PRKG1 BCS1L SIX3 BTNL2 PAH DPYD XPC DDB2 RTEL1 CCDC22 NOTCH2 EOGT USP45 NOTCH1 LIG4 ALG2 MT-TF HDAC8 FKTN IFT140 DISP1 TBX15 ALOXE3 RIC1 KIFBP FANCM ADA2 SLC25A13 GNPTG ERF NODAL ALG3 USH2A EP300 RP1 TBL2 TBR1 PRDM12 GAS1 ADGRV1 SETD5 KCNA4 TCF4 TMEM237 LSS COL17A1 UBAC2 COG4 SIPA1L3 WDR81 ABCA2 GDF6 KIF1B VAC14 CRYBA2 LIMK1 EDNRB ZNF513 SLC25A11 ALG11 ADAMTS18 LPAR6 MT-CO1 C4A CRYBB2 RPS15A PCYT1A YY1 LEMD2 PHOX2B PEX12 SHH LBR MT-CYB NEK2 NCAPG2 PGAP2 WIPF1 DTNBP1 COMT IFT88 FUT8 PDE6A SNORD115-1 TBC1D7 CCR1 RPL11 EDN3 PCDH15 MED25 TCTN1 PEX11B GLIS3 SHROOM4 TCTN2 IFT172 PTH SMARCD1 PQBP1 DCN RPS10 FLVCR1 TP63 IQCB1 MT-ND6 SLC38A8 SLC25A24 AMMECR1 CANT1 WNT3 AEBP1 PDGFRB ARHGEF18 RPS28 FANCC TRPV3 SDHC PIBF1 DLST BMP4 SPRTN AMACR WNT10B SC5D MC1R SMARCC2 ATP8A2 SDCCAG8 GNB5 CLDN16 TDRD7 MORC2 FGF5 POLA1 SEC31A DNM1L SLC7A14 RNF113A TOPORS TGFBR2 DGCR6 SEMA4A MYT1L KIF1A PIGL IDH3A HPS4 MAPK1 SLX4 HMX1 WFS1 ACTL6B RIPK4 PIK3CA HMGB3 PIEZO2 TRIM28 BBS2 SLC33A1 NUP188 OCLN FAS ETFB DNAJC21 NAA10 DNAI1 KLLN RPL15 RFC2 NRAS LOXL1 ATOH7 ADAMTSL1 LAMB2 DDX6 WASHC5 KITLG TMEM138 SMARCE1 GLRB RD3 REST STIM1 FANCE SMAD4 MAX MRPS28 TKFC AHR MAK USH1G INTS1 CYP4V2 OTX2 SIN3A STX16 MYSM1 MMP2 CASK MIPEP ATP10A PIGQ P4HTM SOX11 SVBP SLC24A5 TMTC3 TREX1 CCDC28B RPL35A JAM2 RLBP1 CNGA1 PRDM16 ALDOB CEP57 ARL2BP TARS1 TEAD1 CENPF FANCF NF2 PPP2R5D PLXND1 ZNF423 MDH2 IDH3B ARVCF OPN1LW PRPF31 UBIAD1 MERTK NFIX BAZ1B KLRC4 PUF60 NGLY1 SH3PXD2B PRPF8 LIM2 POLR1D ITM2B POMGNT2 TRAPPC4 CLDN19 DHDDS RNASEH2B BUB1B ABHD12 ARID2 TRAF3IP1 SAMHD1 LOXL3 PRPF4 SCN9A LCA5 SLC35C1 RAB27A DGUOK SEC24C NRL RBPJ PSMB8 DLX6 GTPBP2 GTF2I LDLR PRUNE1 PDGFB AGA MYLK MIR140 MITF DOCK3 TRIM37 OSMR FUCA1 ARHGAP31 MFAP5 TRIP13 SLC40A1 LDHD SALL1 NTNG1 TCF20 BFSP2 DLX5 UBA5 TSPAN12 RP9 GPC3 FSCN2 XPR1 BBIP1 FYCO1 MEGF8 RAX TYRP1 TERC CERKL WDR73 ITPA ETFDH IL6ST USP8 BLOC1S6 B3GAT3 AP1B1 KCNN3 SLC16A12 KCNAB2 POLR3A STXBP1 CHRDL1 GJB3 P3H2 AMER1 NPM1 EXOSC2 INVS FERMT1 RPS24 COLEC11 GJA8 MAN2B1 CDHR1 CDON WDR19 RPL18 KERA GABRD MMP1 APOE ADAMTS17 LAMA3 BFSP1 RAD21 SMARCB1 RDH12 MYH11 RPS6KA3 CHSY1 ARSL TMEM70 ELMO2 MYMK DOCK6 CNGB1 ASXL1 ACTA2 VIM BUB1 IMPG1 TEK B2M PLCB3 VPS13B TBCE TBCK RP1L1 MAFA CDH23 ASAH1 TGIF1 KDM5B JAM3 HSF4 ADAMTS10 MAFB GLI2 NEK9 USH1C MIR204 CEP164 FGF8 RPL26 MFRP ZNF335 SMARCA4 MED12L RAD51C KRT74 H19 SKI MT-TV PIGV ROR1 WRAP53 NPHP3 NHP2 MYH9 TBX22 HYLS1 BBS9 APOB WNK1 PRPF3 PNPLA6 RPS17 RNF125 EED TKT FKBP14 FIG4 APC2 AP3B1 MAP2K2 SLC4A4 TUBB2B B9D2 PARN TLR4 MLPH GALNT2 XRCC4 NMNAT1 BPTF PRSS56 MPDZ RHOA FGFRL1 FAM161A NPHP4 MAP3K7 ADNP RPS29 FGF3 TCOF1 TGM3 HK1 GNA11 FANCG FANCA VARS1 MTTP COL9A2 EBF3 HP_INCREASED_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SKULL_OSSIFICATION HGSNAT OSTM1 VCP HHAT NAGLU SGSH HP_DECREASED_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SKULL_OSSIFICATION ALPL ALX4 RUNX2 TBCE TAPT1 FAM111A ZMPSTE24 P3H1 FIG4 SLC25A19 ANTXR1 ALG9 PPIB COL2A1 COL1A2 INTU LMNA LBR HDAC6 SEC23A COL1A1 PHF21A FGFR2 SLC25A24 TRIP11 WNT7A EXT2 CRTAP MPL NOTCH2 VAC14 HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY ZAP70 STAT1 CR2 SRP54 CD28 CD3E STK4 CASP8 GFI1 IL7R CXCR4 IL6R IL2RG SPP1 JAK3 CTLA4 TTC37 EXTL3 RAG2 FAS NCKAP1L BTNL2 RASGRP1 ACP5 DCLRE1C WIPF1 ICOS SGPL1 RAG1 TERT ZBTB24 PIK3CD PGM3 TCF3 PTPRC TNFSF12 SP110 OTULIN CD3D CD81 DOCK8 DNMT3B NHEJ1 PRKCD BACH2 FOXN1 FUCA1 RRAS2 SLC17A5 SEMA3E AGA IGHM NLRC4 CHD7 BCL11B RNASEH2B IVNS1ABP ARPC1B MYD88 LCK CASP10 NSMCE3 RFX5 CORO1A LMNB2 CD70 TCN2 RMRP PNP SKIV2L ADA CTPS1 NEU1 TTI2 CIITA FASLG MS4A1 KLHDC8B CCBE1 KRAS PSMB9 HLA-DRB1 CYBC1 TINF2 TBX2 STAT4 SMARCAL1 NFKB1 IRAK1 RAC2 BLM TNFRSF1B IL7 MTHFD1 LIG4 RFXAP TNFRSF13C MAGT1 NBN ADAMTS3 ATM TPP2 LEP WAS MYSM1 NRAS SAMD9 MYC PSMB4 AK2 CD247 AP3B1 CD8A ATP6AP2 WDR1 CD3G CD4 LRBA SH2D1A IL2RA IKZF1 RFXANK XIAP MDM4 CLN3 CDCA7 TNFAIP3 ELANE LYST MAN2B1 TNFRSF13B FOXP3 XRCC4 TERC PTEN LIPA FAT4 G6PC3 ADA2 PIK3R1 NFKB2 DOCK2 GATA2 GLB1 TRNT1 MSN EPG5 STING1 TET2 LEPR CD19 KNSTRN TFR2 CARD11 TCIRG1 HELLS ITK UNC119 HP_BONE_MARROW_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_FOAM_CELLS NPC2 SMPD1 LIPA NPC1 NEU1 HP_DERMAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_ATROPHY COL7A1 LAMB3 RECQL4 LAMC2 COL5A2 ERCC3 ERCC4 DDB2 AEBP1 PDE8B PLEC TINF2 TWIST2 CARMIL2 AIP XPC PRKAR1A FBN1 MGP PARN COL1A2 CUL4B PORCN COL3A1 TGFBR1 KRT5 TERT PDE11A ERCC2 POLD1 B3GALT6 C1S ERCC5 C1R ITGB4 FKBP14 B4GALT7 CTSC KRT14 LEMD3 GSN COL1A1 PRKACA TGFBR2 RTEL1 ZMPSTE24 ABCC6 LAMA3 COL17A1 LMNA SMAD3 TFAP2A POLH ACD DST MMP1 ERCC6 USP8 COX7B FERMT1 DSE TERC NDUFB11 XPA ITGA6 DLG4 SLC39A13 ANAPC1 TGFB2 ENPP1 HCCS TP63 GNAS COL5A1 SOX18 CHST14 DHCR24 DKC1 TP53 PLOD1 HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM AGA ERCC5 CBS SLC30A10 TAT ERCC3 ERCC4 ERCC2 HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION PNPO FAH HPD PAH QDPR PTS PCBD1 KYNU GCH1 SPR TAT SLC25A13 FTCD HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION MTR FAH SLC25A13 ADK MMACHC MTHFR MAT1A CBS MTRR LMBRD1 ABCD4 MMADHC GNMT PRDX1 AHCY TTC37 HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM CUBN MTHFD1 MMAB DLAT MMAA RASGRP1 RNF13 GRM7 LMBRD1 ABCC8 CCN6 MTRR MMADHC UCP2 CBLIF CASP10 SUCLA2 FAS ACSF3 AMN MTR PRKCD MCEE KCNJ11 MMACHC CCND1 SIM1 ABCD4 GUCY2C HCFC1 PRDX1 SLC52A1 MMUT FASLG HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM CUBN MTHFD1 MMAB MMAA RASGRP1 RNF13 GRM7 LMBRD1 CCN6 MTRR MMADHC CBLIF CASP10 SUCLA2 FAS ACSF3 AMN MTR PRKCD MCEE MMACHC CCND1 ABCD4 GUCY2C HCFC1 PRDX1 MMUT FASLG HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM GM2A HEXA PSAP MCOLN1 HEXB ARSA HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION ACTA1 CHRNE VAMP1 CCDC174 TARDBP VCP CPOX SLC25A1 TMEM43 ASAH1 SURF1 COL6A1 UBA1 MTMR14 COL13A1 POLG BICD2 PLEKHG5 RYR1 POMK TPM3 COLQ MT-TL1 TNPO3 MAP3K20 MYH7 SPG11 CRYAB MT-TL2 ACOX1 FHL1 MYL1 TRIP4 LAMA2 NEB SUCLA2 ORAI1 KBTBD13 COL6A2 MYF6 HACD1 DES MATR3 SYT2 YARS2 CACNA1S BIN1 TPI1 HNRNPA1 CHRNA1 MPZ LMOD3 ALAD TNNT1 KLHL41 DMPK HMBS TTN KCNE3 COL6A3 MYL2 ITGA7 LRP12 GABRA3 SELENON LMNA MT-TN TK2 SLC25A4 CHAT SNAP25 AIFM1 GAA GLE1 SLC5A7 EMD DOK7 MYO9A HNRNPA2B1 SYNE2 DNM2 MYPN KCNJ18 MGME1 TPM2 AGRN RNASEH1 MYOT PAX7 ERBB4 RRM2B CFL2 MFN2 SCN4A SYNE1 CNTN1 COA8 GFPT1 MORC2 SLC18A3 PPOX HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY STAT1 CLIP2 LRP5 NFIX CYP11A1 ANOS1 UNC80 HHAT PDLIM4 CDKN1A FSHR PROP1 MC4R GFI1 NPHP1 CTNS ATP7A SOST TNFRSF11B LARS2 FBN2 IFT122 FARSB BRCA1 TRAF3IP1 KCNJ1 ATP7B TENT5A SKI RTEL1 PROKR2 ACP5 ENPP1 MLXIPL HNF4A COL1A1 HFE NR5A1 CYP11B1 IL17RD PRKACA B3GALT6 PLOD2 MAGEL2 CYP2R1 OCRL FAM20C ADAMTS2 SNRPN CDH23 TINF2 SMPD1 GTF2I SPARC SETBP1 CBS FANCM TNFRSF11A ANTXR2 COL2A1 MBTPS2 KCNJ8 SEC23A COX4I2 NDN FGFR1 DUSP6 ABCC6 GNAS NPR2 SMARCD2 STAT3 SEMA3E SLC17A5 VCP ANKH CREB3L1 PHKA2 DMRT3 SLC7A7 ARMC5 MIR140 TBL2 DLX3 LHX4 FAM111A IGF1 G6PC FKBP10 GLB1 XRCC2 WDR11 NGLY1 POU2AF1 NELFA MAFB GATA4 HESX1 MEN1 SLC34A1 COL1A2 HERC2 MAP2K1 PHEX NHP2 MITF LAMC2 PHKG2 GPAA1 FGF8 SFRP4 DHCR24 PWAR1 POLG2 AGXT SGSH ERCC8 PTDSS1 LIMK1 FAH MPLKIP WNT1 MMP14 P3H1 CEP290 HBB HGD CLCN7 BRAF TRMT10A GLI2 ADAMTSL2 PROK2 SMARCAL1 CTC1 EXT2 ALPL LBR SMS NOTCH2 COL5A1 DCHS1 KISS1R NPAP1 SNX10 RAD51 CRIPT CALCR POF1B DKC1 SNORD116-1 TNFSF11 SEMA5A WRN PLS3 GATM TBCE RECQL4 NOP10 SPRY4 LMNA TRPV6 PSMC3IP DCC POLR1C PDE8B GBA HSPG2 PTEN GNPTAB TERC PMM2 SEMA3A PLEC EIF2AK3 PRDM5 CDC73 LETM1 FAT4 SPIB KL NDUFAF1 FANCD2 ALDH18A1 AIP IFIH1 FGF23 HMGA2 FUT8 FLNA MKRN3 MTRR LEMD3 SNORD115-1 ANAPC1 TONSL MMEL1 OFD1 EPHX1 PDE11A TWNK POLD1 GNA11 SLC39A8 CTDP1 TYROBP SLC9A3R1 GLIS3 USP8 PSAP RUNX2 P4HB CDKN2B B3GAT3 AKR1D1 GLA PEPD PTH1R ZFPM2 WDR19 HECW2 HPGD TREM2 OSTM1 RPL10 CTCF FERMT3 DHX37 POLR3A TAC3 POLE FGF17 ZBTB20 DCAF17 ERCC4 ERCC2 SLC34A3 IQCB1 AR AIFM1 CA2 NR0B1 TJP2 TACR3 IL12RB1 VAMP7 GNRHR NSMF HSD17B4 SIK3 GTF2H5 AMER1 NPM1 CANT1 RPL11 PIGY SOX9 DDOST SLC12A1 INVS TCIRG1 IL1RN COL7A1 TRIP11 OCA2 AEBP1 KDELR2 TRPS1 FLRT3 SLC35A2 TAF1 LRP4 ANO5 NOTCH3 FANCC SLC4A1 MAN2B1 DPM2 SRC B4GALT7 GORAB RUNX1 GEMIN4 GALT VDR PLEKHM1 ELN PDGFRB LIFR IRF5 TNPO3 FOXA2 SLC39A13 CYP17A1 CLCN5 MMP1 BAAT TMEM38B SLC25A19 MTAP COG1 SC5D LAMA3 SEC24D HNRNPK NDNF UBE2T SCARB2 SLC29A3 MAD2L2 ELANE SDCCAG8 CCN6 PIGT TERT SP7 KNSTRN HJV DLL4 ASXL2 EHHADH PYCR1 PEX12 MAP3K1 TCF4 BNC1 TMEM165 SRP54 SLC37A4 NUP107 ATP6V0A4 CTNND2 MGAT2 RNF113A CAVIN1 ATP6V0A2 ITGB4 COL5A2 USP9X CASR CCND1 SBDS VPS53 CYP27B1 DKK1 SLX4 ESR1 POU1F1 WDR35 FEZF1 FANCB STAT6 GTF2E2 HAMP GTF2IRD1 DNAJC21 NSD2 BMP1 ZMPSTE24 DMP1 SRSF2 RFC2 PALB2 SGMS2 TBCK TET2 CYP27A1 SMAD3 TGFB1 POLR3H GCM2 SPIDR ALB XYLT2 TGFBR2 HRAS ASAH1 PHGDH LPIN2 WT1 PIK3CD CDKN1B ERCC6 HSD3B2 ASXL1 SLCO2A1 RSPRY1 FANCI WNK1 CEP164 NLRP3 NDUFAF6 SIM1 RAD51C NAGA CYB5A MMP2 SLC2A2 RNU4ATAC MMP13 TNFSF15 UROS ADCY10 FANCE CHST3 CHD7 FBN1 ZNF469 GZF1 SATB2 PLOD3 WRAP53 GK PCCA NAGLU NPHP3 HS6ST1 IRX5 CBL HSD3B7 CCDC141 STN1 CRTAP DLK1 LRP6 MST1 IL12A TAPT1 IFITM5 CYP19A1 ERCC3 PYGL LAMB3 ABCC9 NRAS STX16 CDKN2C PRKAR1A RRM2B NF1 RNF125 BRIP1 EED USB1 GALNS SCN9A IFT43 FKBP14 EBP SRY MEG3 ARL6IP6 POR SLC26A2 PARN FGFR2 BMP2 RTL1 PRLR TBXAS1 CSF1R MTX2 TMEM67 TARS1 CTSK GPR35 MDM4 BANF1 FANCF SQSTM1 KRAS POLG GJA1 GNPAT RAB3GAP1 IARS2 EFL1 CYP3A4 GATA1 IER3IP1 BRCA2 PWRN1 IFT52 SOX10 BMP15 SLC39A14 SERPINH1 AVP NPHP4 MAP3K7 WNT3A UFSP2 PLOD1 SOX3 BMS1 TCOF1 BAZ1B MALT1 ESR2 FANCL HGSNAT SH3PXD2B RETREG1 MRPS22 RFWD3 FANCG POLR1D NAB2 FANCA GNRH1 MTTP PIGU OTX2 RIN2 AP2S1 PCCB PSAT1 KISS1 KIF1A WWOX SLC25A4 HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION VPS33B ANK1 MT-ND4 PDHX CASK OTC PCK1 MAT1A GUCY2D SLC25A15 TNFRSF11B SLC6A3 GCSH TALDO1 NR1H4 NADK2 TMEM70 IDH2 SPTA1 EPB42 A2M HAL PAH SLC4A1 MMACHC NDUFA13 SBDS PSPH PAFAH1B1 SLCO1B3 PRF1 BCKDK ADK AMT PIEZO1 HK1 ETFB PC RHAG ABCC2 SLC25A13 MRM2 PKHD1 MTR NAGS MTHFR GLYCTK PNPLA8 TRMT10C SLC17A5 MT-TV SPR MCCC2 PCBD1 TYMP ABCB4 GALT SLC7A7 ASS1 SPTB QDPR IGF1 LIPT2 ATP8B1 MT-ND1 PET117 COX5A GSR ARG1 GCH1 EPB41 MTO1 POU2AF1 LIPT1 SLCO1B1 PSAT1 CPOX HPD TMEM126B MCEE G6PD PKLR PRODH ALDH5A1 ABCD4 BCAT2 GLRX5 CPS1 SRP54 MT-ND6 FAH AKR1D1 TNFSF15 MT-TL1 ASL APP MT-ATP6 HBB UGT1A1 MICOS13 UBE2A POLG ACSF3 SUCLG1 ALDOB SCO1 ODC1 PCCA ASPA GLDC AMACR HSD3B7 DMGDH MT-TK PRDX1 COX10 ATP5F1A ETFA IL12A GYPC KIF23 COX6B1 PLAU PGK1 ABCB11 GLUL RFX6 TTC37 SPIB VIPAS39 GPC1 ALDH4A1 KYNU HFE MTRR PRKCSH MMEL1 POMC DZIP1L SLC30A10 SARDH FDFT1 MIPEP DGUOK EPHX1 ETFDH MMAB PTS POLG2 LMBRD1 MT-ND2 TAT SUCLA2 AHCY OSTM1 PFKM DNAJC21 AASS BCKDHA FBXL4 IRF6 MRPL3 L2HGDH CBS GPX1 UROC1 TJP2 IL12RB1 MMUT PEX19 PNPO SLC2A1 KLF1 MT-TW MMAA PHGDH FBP1 OAT FH MMADHC EFL1 MCCC1 BCKDHB FTCD COX8A MDH1 CPT2 RRM2B GNMT HCFC1 KCNN4 MT-ND5 LBR SEC63 IRF5 TNPO3 DNAJC19 PAX8 BAAT NOS3 DBT CCN6 SC5D COQ9 MPO PDHA1 WDR35 TRMU LRP5 DLD MT-ND3 GCDH MTTP CTH CA5A PCCB NDUFB10 PDP1 HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM TNFRSF11B OCRL GNPTAB CA2 ASAH1 CLN6 CLCN7 DNAJC5 HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION HMGCL PEX12 PEX10 LTC4S LMBRD1 SLC12A1 PEX5 ACADM GATM COL7A1 UCP2 CPT2 PEX19 NADK2 KCNJ1 PEX3 SLC34A1 NDUFAF6 KCNJ11 ABCD1 SLC25A20 PEX13 MMACHC PEX26 ACAD8 PEX7 HADH HNF1A HNF4A CTNS PLA2G4A ACAD9 PEX6 ACADVL MMP1 PEX1 ABCC8 SLC22A5 TANGO2 SCO1 TRMU ACADS DLD PEX16 MT-TE PHYH EHHADH PEX2 PEX14 SLC52A1 PEX11B HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS NDUFS4 NDUFA4 ATP5F1E PDHX TUFM CYP11A1 LYRM4 NDUFA13 PCK1 CTNS MT-TS2 COX6A2 ACADM SLC25A15 NDUFB3 LONP1 INS MT-CO3 LYRM7 LARS1 BCS1L KCNJ1 HSD11B2 IDH2 NFU1 NDUFS7 NDUFV1 HSD17B10 CYP11B2 PAH CPT1A NOTCH2 PPA2 MMACHC SLC16A1 MT-ND1 MT-TF HIBCH HNF4A MCCC2 PREPL RYR1 MRPS22 GATA3 COA6 SLC25A10 NDUFB11 OCRL SCNN1G PDHB CACNA1D PET100 PMPCB KCNJ5 SLC25A13 MRM2 PPM1B NDUFB10 WARS2 CLCNKB MT-CO1 MT-ND2 NDUFA12 MRPS7 MT-TV TANGO2 SURF1 PHKA2 PDHA1 SLC3A1 FDX2 SFXN4 ASS1 PDSS2 EPG5 MT-ND5 FBP1 POLG2 MCCC1 SHOX G6PC MT-TC GSS PET117 GFM2 GFM1 DNM1L TIMM50 TPK1 MTO1 HYMAI NDUFAF2 NDUFS6 ZFP57 LIPT1 TXN2 MLYCD MT-TK SLC34A1 MCEE AIFM1 MT-ND6 PMPCA ECHS1 FN1 GOT2 GATC PHKG2 NDUFA1 AGXT MT-ND3 COQ8A FAH MT-TL1 ASL NDUFAF3 MICOS13 UQCRFS1 INVS NDUFS2 POLG ACSF3 CYC1 NARS2 SCO1 ATAD3A LARS2 NDUFA6 CARS2 HPDL NDUFA9 CLCNKA CPS1 MTFMT COX10 HMGCL GATM STX3 NDUFAF1 TWNK MT-CYB PUS1 SLC25A3 COQ2 MRPS14 EIF2AK3 FOXRED1 AIP HLCS VIPAS39 HPD KYNU HADH ACADS C1QBP SOD1 C12orf65 TMEM126B MRPS16 MT-TQ MT-TL2 AUH PNPT1 ETFDH PTPN22 SERAC1 IVD NDUFAF6 DLAT MT-TW SCNN1A TACO1 TARS2 PDP1 MPC1 ETHE1 L2HGDH FASTKD2 WNK1 YARS2 GATB NUBPL SCNN1B BTD TAZ SLC52A1 MPV17 COX20 NDUFV2 NR3C1 NDUFA11 MMAA NDUFAF8 SLC12A1 TYMP MYO5B HTRA2 MT-TT SLC25A4 BCKDHB SLC19A3 SLC25A26 NDUFB8 NDUFAF4 SLC4A1 HCFC1 SDHA CHCHD10 DLD HLA-B CLPB NR3C2 TRNT1 SLC12A3 NDUFAF5 DBT SLC25A19 CCN6 MRPL12 ABCC8 ACAD9 PLAGL1 COQ9 MT-ND4 TRMU WDR35 PLVAP LRPPRC CLDN16 MECP2 EHHADH TSFM COA8 NDUFA2 PLPBP MT-TP RRM2B VPS33B SLC37A4 INSR OTC NEUROG3 ATP6V0A4 COX4I1 COX14 SYNJ1 UQCRC2 NDUFB9 TMEM70 TIMMDC1 ATP6V1B1 HNF1A ACAT1 NAXE TKFC TK2 NDUFA10 GTPBP3 ACADVL MRPS34 SLC5A1 LIAS ETFB MARS1 PNPO PC SCO2 USP18 LCT TRMT5 DARS2 GLYCTK RNASEH1 ITGA3 PNPLA8 DPYS TRMT10C OXCT1 AARS2 GALT HSD3B2 USP8 HADHB LIPT2 TIMM22 COX5A CAMKMT KCNJ10 BSND CACNA1S MT-TN ABCD4 ISCA1 SLC2A2 SLC25A42 SARS2 BOLA3 MT-ATP6 UQCRQ NDUFS3 MT-CO2 ADAMTS13 NDUFS8 MT-TH NDUFS1 SUCLG1 ALDOB IL6 GK PCCA MT-TE MRPS28 MRPL44 PRDX1 IKZF1 UQCC2 LDHA SLC7A7 ETFA COX6B1 OGDH PYGL ITPR3 EARS2 ATPAF2 KLHL3 AGK HADHA CYP17A1 GYS2 NADK2 MIPEP DGUOK JAG1 MDH2 KCNJ11 MMAB MT-TI ATP5F1D GFER CUL3 LMBRD1 SUCLA2 SLC4A4 BCKDHA FBXL4 MRPL3 UQCC3 RARS1 COX15 MMUT WNK4 FH ALDH6A1 MMADHC CPT2 ISCU ELAC2 SLC26A3 RARS2 IBA57 HNF1B COX8A QRSL1 PDSS1 FARS2 COQ4 DNAJC19 NGLY1 HS6ST2 CAD ACAT2 RMND1 CA2 GCDH CA5A PCCB UQCRB PAX4 HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL LEP AKT2 LEPR ZMPSTE24 LMNA CIDEC BSCL2 MECP2 AGPAT2 LIPE HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION ACAT1 SLC7A7 HMGCL SLC37A4 SH2B1 TUFM COX6B1 OTC MMUT ERCC4 C3 SLC25A15 GLUD1 TNFRSF11B HNF1B MOCS1 NT5E UQCRC2 HSD17B10 HPRT1 CTNS TMEM70 GLUL EIF2AK3 ATPAF2 CFHR1 HLCS CCND1 BTD SLC25A20 GPHN MMACHC HADHA HADH PRPS1 PCCA ERCC6 MCCC2 CFI ASL OCRL DBH MMAB ACADVL SERAC1 CD46 PDHB MYC ATP5F1D PFKM CPT2 MUC1 PNP TREX1 FAN1 SLC25A13 MRM2 MOCS2 UMOD HNF4A COL4A3 CPT1A PKD2 NAGS NR1H4 ALDOB WDR19 TANGO2 PCBD1 XDH ASS1 THBD PKD1 MCCC1 TMEM260 MMAA SEC61A1 G6PC HADHB NDUFA6 FBP1 GALNT2 GATM ARG1 CFH SLC2A9 PPARG ACADM SLC34A1 RINT1 NDUFAF6 CFB BICC1 LMAN1 SLC22A12 GOT2 REN STOX1 NBAS CPS1 SLC2A2 SLC25A42 ACAD9 ELP1 GANAB SARS2 HBB TNFRSF11A MCFD2 CORIN INVS ADAMTS13 ERCC8 CAD CYC1 SLC22A5 PCCB DLD ALMS1 CA5A CLDN16 MOCOS COQ7 MECP2 EHHADH FLT1 CFHR3 AVPR2 HP_ABNORMALITY_OF_TEMPERATURE_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION TP53 NOD2 RNASEH2B NODAL CASK NALCN GFI1 ATP7A IL6R SHANK3 HLA-DRB1 CFTR KCNJ1 STAT5B EPB42 RAG2 SCN9A SAMHD1 TCF3 CYP11B2 BTNL2 DIS3L2 DISP1 XPC DDB2 MMACHC CHRND MT-ND1 SLC35C1 BCL10 SIX3 KDF1 RYR1 RAB27A STAT4 MAGEL2 SCNN1A PRF1 PSTPIP1 KRT18 SLC29A3 IL23R PSMB8 PTPN22 CTRC OTULIN CD3D UBA1 PML TSC2 CLDN10 MYF6 BCOR MT-CO1 IL2RG XIAP ASCL1 IL12B STAT3 MT-TV NLRC4 JAK2 TBL1XR1 SMC1A NLRP3 SHH CHD7 IL7R SPTB MT-ND5 FBP1 QDPR CCND1 STXBP2 TSPYL1 CHRNA1 IGHM PRKCD RARA CLCF1 CFH EPB41 CD244 EIF2B2 ATP13A2 G6PD PEX6 HERC2 MT-ND6 UBAC2 RMRP LAMC2 CDON ADA PWAR1 AVPR2 COL1A1 ABL1 EIF2B3 LACC1 LRRC8A PTCH1 TRIP13 NLRP1 DLL1 KIF1B AVP GAS1 MICOS13 ATXN3 MT-TL1 IL12A UQCRFS1 ALG11 SPR TRIM28 MEFV GAA GPC3 BIN1 RNASEH2C MALT1 GALC IRAK1 NPAP1 SNX10 C4A ITPR2 MT-TK TRAF3IP2 SNORD116-1 ZIC2 STAT2 IFIH1 TREX1 HMGCL TDGF1 MLX ZFHX2 LBR TET2 HSPG2 MVK NABP1 PMP22 PMM2 TGIF1 MIF WIPF1 F5 CFHR1 RAG1 MKRN3 SNORD115-1 MADD BCL2 PSAP CCR1 PTPN3 MT-TF BLNK PRKAR1A STIM1 ENPP1 SPINK1 PTS MT-CO3 GLA GCH1 VANGL2 MT-ND2 NFKBIA ELANE UBE3A IL36RN TRAF3 PRTN3 AQP2 FGF8 POLR3A BRCA2 TLR3 TNFAIP3 PRNP TICAM1 MT-TW ERAP1 IRF8 SLC12A1 BTK ABCC6 EDAR HLA-DPA1 CYBB CD27 ANK1 IL17F RB1 PKHD1 TNFRSF1A IGLL1 NDN GLI2 CTLA4 HLA-B KRT8 LIFR TRNT1 SLC19A3 FGFR1 SLC25A19 SCN5A LAMA3 HNRNPK NTRK1 SLC4A1 MT-ND4 SH3KBP1 ATP1A3 ERCC4 CPT2 NFKBIL1 CD79A NCF4 TRAPPC9 TCF4 SLC12A3 SNRPN UNC93B1 TMEM165 FOXP1 SRP54 PADI4 BCR IL6 NPM1 EIF2B1 POMP ZBTB16 RUNX1 SPP1 MTMR14 SPTA1 NECTIN4 STAC3 PHOX2B TCIRG1 GDNF DDC ERCC6 ELP1 DBH TNFSF11 STAT6 LPIN1 HEXB ACADVL IL10 FAS NCF2 SCN10A PRSS1 TSC1 ABCC2 ORAI1 CACNA1S CD79B CALR MYD88 TBCK BACH2 CYP21A2 MT-TS2 DST HAVCR2 WT1 ASAH1 LPIN2 ADAR CYBC1 ATP1A2 IFNG MYH3 CACNA1A BCAP31 TBK1 CD3E STAG2 CD70 CYBA TH NLRP12 KRT14 H19 REST SCN4A NCF1 XPA SCN11A SCNN1G GATA2 MT-ATP6 PSMB9 MBTPS2 DNM2 PRSS2 CHRNG POU6F2 ADAMTS13 MT-TH CLEC7A STX11 RIPK1 SUCLG1 ABCA1 GABRA2 IL12A-AS1 SCNN1B SCYL1 TBX3 MT-CYB SLC22A4 FOXH1 CRLF1 COG6 CFHR3 IKZF1 EDARADD ALPL ACAT1 MST1 GYPC LIG4 MTHFR ERCC3 LAMB3 ABCA12 WAS EIF2B4 SLC25A20 DGUOK HBB ERCC5 P4HTM EDA PSMB4 SCN1A IL17RC NGF SLC5A1 CD247 MAP2K2 MT-TQ EIF2B5 VPS11 WDR1 NKX2-1 MAP2K1 GPR35 LYST CLCN7 TLR4 IL17RA RET UNC13D ERCC2 RNASEH2A TRAF6 RNF168 KLHL7 PLA2G6 PWRN1 BCL6 LIPA IBA57 AK2 NUMA1 RANBP2 ADA2 SLC11A1 FIP1L1 KLRC4 PAX8 HMBS EDN3 NGLY1 MPL HLA-DPB1 ACADSB PIK3R1 ERCC8 NAB2 STING1 CHEK2 PRRT2 ATM MT-ND3 OCA2 HTR1A IFNGR1 SLC18A2 BIRC3 IRF2BP2 CIITA MT-CO2 SH2B3 ITK DCLRE1C HP_REDUCED_CONSCIOUSNESS_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CONSCIOUSNESS_CONFUSION NDUFS4 NODAL CDKN1A SNCB CHRND ACADM SLC25A15 GLUD1 GCSH SMARCE1 LONP1 LYRM7 MOG STAT3 NFU1 NDUFS7 TSR2 NDUFV1 ATP7B SNCA CYP11B2 DISP1 CPT1A MMACHC HNF1A ZNHIT3 EPM2A MT-ND1 SLC19A2 HNF4A SIX3 MCCC2 TOMM40 STAT4 SMARCB1 MAGEL2 PRF1 PDX1 KRT18 CTNNB1 IL23R ISCA2 ABCC8 HCRT ABAT HFE NDE1 ADA2 NDUFB10 IL18BP DNMT1 SLC25A22 SLC25A13 MT-CO1 AGRN MT-ND2 IL12B MEN1 SLC1A2 CHRNA1 SMC1A SHH SLC7A7 ASS1 MT-ND5 FBP1 MCCC1 CHRNA2 TWNK ARSA SCN4A CFH POU2AF1 NDUFAF2 NDUFS6 EIF2B2 ATP13A2 PSEN1 HADHB MT-ND6 UBAC2 CDON NDUFA1 POLG2 PSEN2 EIF2B3 KCNQ1 MT-ND3 SLC22A5 P2RY11 PTCH1 DLL1 AKT1 ASL NUP88 GCK NDUFAF3 AVP SIK1 GAS1 MT-TL1 IL12A POMT1 SPR CTSH NNT NDUFS2 CHRNE HLCS CYP24A1 NOTCH3 IRAK1 NDUFA6 DHCR7 GBA C4A RPS15A PRNP MC2R CHRNB1 DMPK CPS1 HLA-DRB1 ZIC2 MUSK HMGCL TDGF1 DPYD MLX TRAF7 ABCA7 HLA-DQB1 NDUFAF1 TGIF1 SLC2A3 NAXD EIF2AK3 FOXRED1 SPIB CFHR1 INSR KYNU MTRR HADH TNFSF4 CCR1 RPL11 BNC2 ACADS RPS19 MMEL1 MT-TF TMEM126B PRPS1 ERCC2 MRPS16 GNA11 ETFDH NAA10 USP8 TLR3 GABRB2 PTS CDKN2B MT-CO3 CPT2 GCH1 ZNF365 PDHA1 TRAF3 RPS10 FGF8 SUFU POLR3A ERCC3 AUH NUBPL BTD IL12RB1 PSAP SLC25A20 TICAM1 ERAP1 LRP4 MMAA NF2 RPS24 BCKDHB NDUFB8 ERCC5 KCNJ11 TXNRD2 RPS28 APP MAN2B1 TREM2 RPL18 NBAS GLI2 DLD DOK7 GALT SLC19A3 MEFV KRT8 HLA-B PIGG IRF5 TNPO3 SLC12A3 MT-TW FGFR1 DBT BRAF RPL5 MT-ND4 RYR1 HJV GJB1 COA8 PPOX NDUFA11 UNC93B1 MMADHC OTC SURF1 CPOX EIF2B1 SPP1 SLC5A5 TIMMDC1 GCDH CASR ABCD1 NAXE STAT6 THRA ACADVL COL13A1 HAMP AMT IL10 FAS ETFB TRHR ATP5MD POMT2 USP18 RPL35 RPL15 NAGS MTHFR RPL31 DPYS BAP1 SLC2A1 MT-TS2 KIF1A FIG4 CDKN1B ATP1A2 COX5A CACNA1A PDGFB GATA1 TBK1 RPL26 CLCNKB STAG2 SIM1 MT-TT TH ABCD4 AKT2 NDUFAF5 BOLA3 TNFSF15 MYOD1 NDUFS3 NOTCH2NLC ADAMTS13 MT-TH NDUFB11 NDUFB3 ALDOB HADHA COL3A1 IL12A-AS1 GK PCCA GLDC MT-CYB FOXH1 NDUFV2 PRDX1 CFHR3 SMO RPL27 ACAT1 AK9 ETFA FKTN TERT MMUT ERCC4 STAR CDKN2C EIF2B4 GNAS RPS17 PRDM8 RRM2B TBC1D24 MMAB NDUFS1 NDUFS8 ATP5F1D SLC39A4 NHLRC1 SCN1A LMBRD1 MT-TQ EIF2B5 RPL35A BCKDHA RPS7 RAPSN TCN2 POLG LARGE1 HTT CUBN ASPA NDUFB9 TLR4 SLC13A3 PLP1 SLC25A19 NDUFAF4 GYS2 UCP2 SLC4A1 PLA2G6 CDH23 TBP RPS26 RANBP2 INS RPS29 MYD88 KCNE1 MRAP SLC18A3 KLRC4 PAX8 HMBS ACADSB NDUFAF8 RMND1 NAB2 SORL1 PRRT2 RPS27 TRDN CA5A PIK3CA FKRP MT-TE PCCB NFKB2 IVD MT-CO2 SCO2 SLC25A4 HP_FOCAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_DYSTONIA KMT2B MAPT KIF1C TUBB4A POLR1C TBP HSPG2 COL6A1 FTL FGFR3 TRPV4 FGFR2 TWIST1 SGCE CACNA1A ZNF142 STX16 SLC39A14 CASR MECR GNAS KCNC3 ALDH18A1 CP ATP13A2 COL6A3 ALS2 PANK2 FUS GNA11 B3GALT6 COL12A1 ARX NAA10 GNAL PNKD TGM6 PRRT2 NEK9 CDK10 DRD2 KCNA1 COL6A2 COLEC11 STARD7 GCH1 VPS13A TOR1A SCP2 SALL4 SYNGAP1 CEP85L PRKCG AARS1 COX20 TBC1D24 C19orf12 ANO3 PCGF2 MAFB MYF5 PRKRA FLI1 NGLY1 CIZ1 PLA2G6 HPCA THAP1 PARK7 TH TAF1 CHN1 HINT1 SPG11 KCTD17 TCOF1 COASY ACTA1 SLC19A3 CNP CPLX1 SIGMAR1 TGFB2 HK1 TIMM8A GDAP2 POLR1D ATP1A3 TUBB3 ATN1 SCN4A DRD5 VAC14 HP_HEMIPLEGIA_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA_HEMIPARESIS RNASEH2B RDH12 DNM1L RRM2B WDR62 MT-TS2 SPP1 SMARCE1 CEP290 MT-CO3 PMS2 TTPA KRAS GNAQ SAMHD1 ABCD1 CPT1A CTC1 GDF6 EOGT USP45 LCA5 MT-ND1 FGFR1 COL4A2 NOTCH1 LARGE1 EXT1 STAT4 SMARCB1 NUP133 PRF1 MT-TF FAN1 RBPJ IL23R SP110 KCNJ13 IL10 FAS CYP26C1 CBS L1CAM IKBKG TPRKB MT-CO1 MSH6 RPE65 GUCY1A1 MTHFR PNPLA8 BAP1 MT-ATP8 SLC2A1 TGFBR3 EPCAM MLH3 ADAR MT-TL1 MT-ND5 ADA2 RPGRIP1 ATP1A2 FKRP MT-TC GUCY2D GALC CFH CACNA1A PDGFB TBC1D24 ARHGAP31 TULP1 COL3A1 MT-ND6 RD3 UBAC2 SLC1A3 SKI TREX1 MT-TV HPRT1 TUBB2B SCN1A WDR4 AKT1 OTX2 DNASE1L3 IL12A MT-CO2 ENPP1 MT-TH NOTCH3 IMPDH1 TP53 RNASEH2C IL12A-AS1 WDR73 IRAK1 ATP1A3 C4A MT-CYB ARG1 MSH2 PRNP NF2 IFT140 CFHR3 IFIH1 SMO POMT2 IQCB1 ERGIC1 DLL4 TRAF7 TERT MMUT AIPL1 SPATA7 TPP2 LRAT PTEN MEOX1 GDF3 TGFBR2 PEX7 PROKR2 POMT1 COL4A1 CFHR1 RHOBTB2 ARNT2 CCR1 DOCK8 PCYT1A ARX MT-TQ ABCA1 TLR3 HLA-DQB1 ALAD MT-TW CRX TTR PAH FKTN ABCC6 TP53RK PRTN3 KCNAB2 PRDM16 ANGPTL6 SUFU APOA1 MLH1 EXT2 SUOX MT-TK TSC1 PIK3CA ERAP1 TLR4 SLC12A6 SOX3 RNF216 RNASEH2A NMNAT1 TBK1 PMS1 HLA-DPA1 DOCK6 PNPLA6 LAGE3 ENG OSGEP GBE1 POMGNT1 THSD1 CTLA4 OPA1 GJB6 MEFV HLA-B GABRD KLRC4 SPOP RPS20 GMPPB SNORD118 MTOR PDGFRB HLA-DPB1 PTPN22 SOX2 MT-ND4 PHYH PRRT2 GJB2 SEMA4A NAGA BMPR1A HESX1 CRB1 TSC2 B3GALNT2 NUP107 RERE HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM PDGFB APC GLI3 CDKN1A CDKN2A TMEM127 C11orf95 PRKAR1A SDHB SMARCE1 TOP2A FGFR1 PMS2 CDKN1B KRAS GCDH ALK EPAS1 VHL TUBB PHOX2B GDNF SEC23B NF2 PIK3CA PDCD10 SMARCB1 STAT6 KIF7 AKT1 OCRL FAN1 BDNF BMPR1A SDHAF2 FAM149B1 FH SETBP1 PTEN USF3 CPLANE1 KLLN SDHC MSH6 TP53 WRN ASCL1 PDE6D SDHD EP300 BAP1 MEN1 MAFA OFD1 EPCAM GPC3 RET TSC1 MLH3 PALB2 NTHL1 KIAA0753 ALX1 RELA MLH1 FLI1 MN1 DAXX SUFU CHEK2 SOX2 CREBBP NF1 SKI KIF1B IDH2 NUTM1 KIT HRAS NBN SDHA CCBE1 DICER1 SETD2 SLC25A11 DLST MYO1H ATRX MSH3 EWSR1 MDM2 LIN28B MAX MSH2 PTCH2 EPHB2 YY1 SMO POLE TRAF7 TERT ADAMTS3 KRIT1 POLD1 TGFBR2 SIX6 RUNX1 GCGR KARS1 SPRED1 TMEM216 CDKN2C DNMT3A LMNA TSC2 GNAS GPC4 ALX3 NRAS BRCA2 IFNG CDKN2B APC2 RB1 KCNAB2 PRDM16 WDPCP POT1 EDN3 PTCH1 NOTCH3 BRAF PTPN11 ZSWIM6 KEAP1 CCND1 DMPK ARMC5 RNF43 MDH2 PMS1 NSD1 FAT4 LRP5 HACE1 IDH1 GABRD BRD4 RPS20 PDGFRB LMO1 LZTR1 MYCN CCM2 NAB2 L2HGDH RAF1 ERBB2 CTNNB1 TCTN3 SEMA4A MAPRE2 SMARCA4 WT1 RERE HP_HEMATOLOGICAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOLOGICAL_NEOPLASM ZAP70 RNASEH2B FOXP1 GFI1 CR2 SRP54 JAK2 CD28 BCR SMPD1 DDX41 SBDS KRAS TCF4 PICALM BUB1B IL7R FANCE RUNX1 CD19 BRCA1 ICOS TSR2 FAS SCN9A TET2 SAMHD1 THPO RTEL1 RASGRP1 PIGL SLX4 ARHGAP26 BCL10 PDGFRA ASXL1 PDGFRB TERT BUB1 LIG4 FANCB PGM3 ATRX TP53 SF3B1 TNFSF12 CD81 ABL1 MLH1 RPS19 SCN10A UBA1 DNAJC21 SETBP1 PTEN FANCM ADA2 HAX1 RPS14 SRSF2 RPL35 RPL15 PRKCD IL2RG PALB2 CALR FANCC EVC TERC SMARCD2 RPL31 ERBB3 CHIC2 NUP214 STAT3 GLI1 GNB1 GATA2 SAMD9L SRP72 F13B RARA CHD7 ADAR NTHL1 CCND1 FANCI PIK3CA MYD88 RAG2 FLT3 CASP10 XRCC2 KIT GATA1 RFWD3 NBN RPL26 CTLA4 CD70 RAD51C NAGS RMRP PNP ADA NUTM1 CTPS1 SCN11A XRCC4 MS4A1 KLHDC8B ANAPC1 SETD2 DNASE1L3 TINF2 MSH2 DNMT3A CBL CTC1 NFKB1 RNASEH2C WRAP53 MALT1 MDM2 NHP2 RPS15A BLM RAD51 LPP TNFRSF1B DKC1 IFIH1 FASLG CEBPA RPL27 SAMD9 RECQL4 CBFB TNFRSF13C MAGT1 PTPN11 ATM TP63 FANCA BAX CDKN2A NF1 WIPF1 GINS1 FANCD2 WAS MPL MYSM1 MEFV RAG1 RPS17 BRCA2 MYC BCL2 RPL11 COL14A1 HLA-DRB1 BRIP1 F13A1 USB1 RHOH NRAS TYROBP NPM1 BUB3 ELANE MSH6 PIGA APC2 TREX1 TREM2 RPL35A RB1 RPS10 RPS7 LRBA PARN POT1 POLE SH2D1A DYNC2LI1 CEP57 ERCC4 KIF11 HSPA9 XIAP BRAF FANCF APC NSUN2 STS RNF43 RNASEH2A GBA MLLT10 EP300 EFL1 RPS24 ETV6 BCL6 CD27 NSD1 TNFRSF13B GFI1B RPS26 RPS28 SH3GL1 CREBBP PIK3R1 NFKB2 CHEK2 RPS29 RPL18 TAL1 BRD4 TAL2 FANCL TRIP13 NOP10 UBE2T EVC2 PMS2 RPL5 FANCG MCM4 NBEAL2 SH2B3 RAF1 NUMA1 AAGAB MAD2L2 RPS27 BIRC3 TCIRG1 ITK DCLRE1C HP_ABNORMALITY_OF_THE_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANUS ABL1 WDR35 KDM6A HSPA9 CR2 SALL4 PIGW UBR1 TBX3 CDH11 GLI3 IL10RB PQBP1 PGAP3 CDH1 C2CD3 DLL1 TBX1 SPINT2 SUZ12 MKS1 CEP120 BRCA1 PIGV USP9X PIGN GDF6 PTCH1 CCDC22 UFD1 FOXF1 SLX4 AMER1 MID1 FREM1 DISP1 NODAL RIPK4 FGFR2 LIG4 FANCB FOXC1 SEC24C UPB1 ACADVL TNFSF12 COX7B CD81 DOCK8 SETBP1 TGFB1 NDUFB11 FANCM RREB1 THOC6 POMT2 RSPO2 POR PALB2 SIX3 MYCN HIRA DPYS RRAS2 ZIC3 SEMA3E ATP2A2 FRAS1 B3GLCT FGF8 RAD51 FANCI WASHC5 ATN1 FOXH1 XRCC2 GP1BB MED12 CCNQ CHD7 DYNC2H1 KMT2D ADAM17 RAD51C DYNC2I2 FANCL IL10RA SKI NBN PTDSS1 MS4A1 PIGL SALL1 FANCE GATA1 POMT1 CYBC1 NAA10 INTU MNX1 NFKB1 SPECC1L PITX2 GRIP1 DCHS1 TP63 JMJD1C FUZ CHD4 DVL3 KIF7 CHRM3 VANGL1 WNT7A FKTN HCCS TNFRSF13C DACT1 RECQL4 EGFR MEOX1 GDF3 TWIST2 SIN3A PGAP2 RFX6 EMC1 NXN FANCD2 COMT WNT3 EXTL3 MKKS BCOR CDK8 BRCA2 CDC45 BRIP1 PORCN CD96 DDX6 CTNND1 TGIF1 PIGO KCNAB2 PRDM16 PIGY LONP1 TDGF1 ERCC4 GAS1 EHMT1 GLI2 FERMT1 DYNC2I1 LARGE1 FANCF TCTN3 TWIST1 NSUN2 ELANE COL7A1 SNRPB SLC25A24 ARVCF HOXD13 ROR2 FLI1 FANCC KMT2C ISL1 NFKB2 PPP2R3C CDON GABRD MMP1 TNFRSF13B FREM2 IFT80 UBE2T RFWD3 FANCG FANCA MAD2L2 ZIC2 CD19 SMO SHH PRKCD FKRP DKC1 FAT4 RERE ICOS HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL TP53 MST1 IL12A PIGW PGAP3 VCP TRPV6 PIGB TNFRSF11B TCIRG1 HNF1B ABCB11 PIGT NR1H4 HNRNPA1 ELMO2 CCDC115 PGAP2 CTNS PIGV PIGA COG6 SPIB GPC1 FGF23 CYP27B1 PRKCSH HNF4A MMEL1 PLEKHM1 CEBPE CYP2R1 PIGQ FAM20C ENPP1 PIGO SLC39A4 ABL1 PIGS SLC34A3 ZNF687 SOST TREX1 SLC25A13 DMP1 PIGY SGMS2 TNFRSF11A PIGK ALPL GPR35 IL12RB1 SQSTM1 SIK3 ESR1 ABCB4 FKBP10 ABCC6 CYP3A4 POU2AF1 RB1 PKHD1 SLC2A2 PHEX COG4 BCR PTH1R LBR VDR ATP8B1 AKR1D1 PIGL HNRNPA2B1 IRF5 TNPO3 TNFSF15 CCDC47 SC5D CYP7B1 TMEM199 SLC34A1 CHEK2 CLCN7 TCF4 HP_AORTIC_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_VALVE_CALCIFICATION IFIH1 NKX2-5 SMAD6 ZMPSTE24 LMNA HGD GBA GATA5 NOTCH1 HP_SUPRAVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVALVULAR_AORTIC_STENOSIS BAZ1B CLIP2 LIMK1 ELN RFC2 TBL2 ABCG8 PCSK9 RRAS2 GTF2IRD1 MLXIPL GTF2I LDLRAP1 LDLR APOB EFEMP2 FBLN5 ABCG5 HP_MITRAL_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_VALVE_CALCIFICATION FBN1 MTX2 IFIH1 GBA LMNA ZMPSTE24 HGD HP_PROTRACTED_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRACTED_DIARRHEA CIITA RFXANK SDHD RAG1 RAG2 CD3E RFXAP DAXX CD247 CD3D MYO5B RFX5 ATRX HP_GASTROINTESTINAL_INFLAMMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFLAMMATION ZAP70 CIITA STAT1 MST1 IL12A TCF4 IL10RB ATP7A LAMC2 MEN1 LAMB3 MEFV HLA-DRB1 WIPF1 GPHN CTLA4 TTC37 CDKN1B RFXANK NCF4 CARMIL2 FAS COG6 SPIB WAS GLRB CARD8 RFX5 PSPH MMEL1 IL21 F13A1 IRGM TGFBR1 RIPK1 IARS1 NOD2 PSTPIP1 ABCB1 OPLAH TGFB1 GPIHBP1 PGM3 IL6 RET PRKCD LRBA BACH2 XIAP STXBP1 SLC6A5 GPR35 IL12RB1 TGFBR2 IGHM F13B ATAD1 FERMT1 NLRC4 HPS1 TNFAIP3 ELANE IVNS1ABP RPL11 STXBP2 PHGDH ARPC1B FOXP3 COL7A1 CASP10 SLC9A3 GLRA1 TRAPPC11 LMX1B POU2AF1 RFXAP MASP2 MAP3K7 IL10RA JAK1 SLC2A10 SKIV2L INAVA TGFB3 SMAD3 RTEL1 IRF5 TNPO3 TNFSF15 MMP1 RASGRP1 FCN3 TGFB2 CYBC1 LAMA3 HLA-B PLCG2 FASLG POLA1 ADAMTS2 HP_ENTEROCOLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTEROCOLITIS STAT1 RET OPLAH IL10RA ELANE IL10RB FCN3 NLRC4 HP_INTESTINAL_PSEUDO_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_PSEUDO_OBSTRUCTION TP53 MT-ND5 DMPK MT-TW BRCA1 CDKN2A KRAS MT-CO3 MT-TL1 TWNK HNRNPK MT-TQ MT-TH POLG MT-ND4 MT-CO1 FLNA PALB2 PALLD BRCA2 MT-ND6 MT-ND1 SMAD4 MT-TS2 RAD21 MT-TF ACTG2 MT-CO2 IDS HP_HAMARTOMATOUS_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMATOUS_POLYPOSIS PTEN SDHB AKT1 BMPR1A GREM1 STK11 KLLN SDHD SUFU MSH3 PTCH1 SMAD4 PTCH2 SDHC SEC23B USF3 PIK3CA HP_MULTIPLE_GASTRIC_POLYPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GASTRIC_POLYPS TREX1 SMAD4 BMPR1A APC ENG MSH3 HP_MALNUTRITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALNUTRITION SLC7A7 HLA-DQA1 IRF6 BMP4 CDH1 MMP1 TYMP HLA-DQB1 MYO5B COL7A1 SLC5A1 LAMA3 LAMB3 EFL1 DNAJC21 COX4I2 ALDOB LIPA POLG DLX4 SBDS CRLF1 NOS1 TP63 LAMC2 ARHGAP29 ACTG2 MSX1 DLG1 NECTIN1 SRP54 SAR1B SAA1 HP_POOR_APPETITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_APPETITE KRT10 BCR TP53 BRCA1 CDKN2A KRAS SLC39A4 RUNX1 MGME1 TGFB1 SLC25A13 ATRX POLG CTNS IL18BP SLC25A26 DAXX PALB2 PCCA PALLD BRCA2 NAGS RHBDF2 SMAD4 BLM PCCB RRM2B PIK3R1 ABL1 KRT1 SLC2A2 TYMP HP_ECTOPIC_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANUS FGFR2 WDR35 B3GLCT DVL3 PIGW UBR1 CDH11 HCCS FGF8 FREM1 PGAP3 C2CD3 RECQL4 DLL1 MEOX1 WASHC5 ATN1 SNRPB FOXH1 GDF3 SUZ12 SLC25A24 MED12 PGAP2 DACT1 RFX6 PIGV ROR2 DYNC2H1 NXN FLI1 PIGN MKKS GDF6 PTCH1 CCDC22 CDK8 DYNC2I2 DISP1 PORCN NODAL PIGO DDX6 PTDSS1 CDON PIGL ACADVL TGIF1 FREM2 COX7B SALL1 IFT80 SETBP1 NDUFB11 DCHS1 POR PIGY ZIC2 GRIP1 SIX3 ZIC3 TBX3 TDGF1 RRAS2 SHH GAS1 GLI2 FAT4 CHD4 FRAS1 DYNC2I1 HP_PEPTIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEPTIC_ULCER BAZ1B CLIP2 LIMK1 ELN TBL2 ERGIC1 CDKN1B HPGD CDKN1A CDKN2B SLCO2A1 GBA CISD2 GTF2IRD1 GTF2I WFS1 MEN1 CDC73 RFC2 CDKN2C GNA11 ARID1B AP2S1 PLA2G4A HP_ABNORMALITY_OF_THE_PYLORUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PYLORUS PEX11B TBX3 ADAMTS3 LAMC2 NIPBL PEX12 ARFGEF2 DMD ZNF81 CAVIN1 LAMB3 GDI1 SH2B1 PAK3 MTMR14 NEK9 FLNA BCOR PEX19 SYP MECP2 PEX6 PPP2R5D MID2 PIEZO2 PEX2 HDAC8 CRKL ITGB4 OTC ARHGEF6 ARF1 FIG4 ZEB2 NCF2 RPS6KA3 AGTR2 ZNF711 DHCR7 FBLN5 PEX10 MYF6 MAPK1 CNKSR2 KCNAB2 PRDM16 LAMA3 KMT2A RYR1 TMTC3 NEFH TFAP2A PLEC PEX16 DLG3 NEDD4L CLCN4 ALG13 FGFR2 BCR LTBP4 CYBC1 DHODH PEX5 ZNF41 ERMARD NPHS1 PEX26 PTCHD1 UPF3B PEX13 TSPAN7 MED12 RAB39B SMC1A SETD5 CYBB SLC9A7 FAT4 FLI1 SERPINH1 MAP3K7 USP9X HNF1B FRMPD4 CYBA IQSEC2 HDAC4 DYRK1A USP27X ARX SLC2A10 SKI CXorf56 NCF1 DLK1 HRAS VAC14 PPP2R3C ITGA6 MTM1 CCBE1 GABRD DNM2 KANSL1 NAA10 COL18A1 ACSL4 IL1RAPL1 PEX1 BIN1 PEX3 FTSJ1 MAP1B HCFC1 RAD21 MEG3 NCF4 SMC3 EFEMP2 HNF4A RERE PEX14 RTL1 HP_ABNORMAL_NIPPLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NIPPLE_MORPHOLOGY TP63 KDM1A PIGW NFIX COLEC10 UBR1 TBX3 CDH11 TCF4 PGAP3 SMPD4 RNF113A ALG11 RRAS2 DUSP6 NRAS RASA2 ACOX1 TWIST2 USP9X PIGN CCDC22 PIGL TUBB MAPRE2 ASXL1 KIF15 AMER1 ARCN1 RIPK4 NSMF HDAC8 SOX6 NUP188 GTF2E2 MEGF8 ZEB2 INTU KCTD1 NSD2 PROKR2 IKBKG RSPO2 KIAA0586 TRRAP WDR37 HNRNPK SLC25A46 EZH2 FRAS1 GPC3 SOS2 B3GLCT PMM2 DHODH PIK3CD RAB3GAP2 ALG9 ALG14 COX7B A2ML1 MAN1B1 GPC4 WASHC5 ATN1 ARHGEF2 SOS1 RAF1 ERCC6 WDR11 PTPRF SMC1A NELFA SETD5 KDM6B TCF20 ABCD4 CDH2 MASP1 PIGV SETBP1 VAC14 INSR TRAF7 RFT1 MPLKIP PEX3 CHD7 CCDC47 KANSL1 SMARCA2 UBE2A CBL CKAP2L COG7 OFD1 IGF1R SMS GRIP1 MRAS DHCR7 CERT1 PROK2 DLK1 SMC3 MAB21L1 KIFBP CHRNG SPRY4 PACS1 NIPBL ERCC3 GNPTAB PIGT BRAF UBA1 PGAP2 CHST3 LETM1 FGF8 WNT7A MADD NF1 PORCN CILK1 FGFR1 DDX6 ACTB MDH2 PTPN11 EDA KISS1R KRAS ERMARD FIG4 ZC4H2 WAC MEG3 PIGY KMT2A TAC3 RTL1 TFAP2A FGF17 ERCC2 ANTXR1 RERE TFAP2B TARS1 TACR3 EDARADD SRY NONO GNRHR WASF1 GTF2H5 AMMECR1 PPP2R5D WNT3 HS6ST1 RNF216 ARHGAP31 SLC25A24 ALG12 KAT6A SLC35A2 COLEC11 DOLK PNPLA6 IBA57 HDAC4 ADNP CPT2 RRAS CSPP1 PIGO EFNB1 NECTIN1 GATA4 FREM2 RIT1 COG1 ANOS1 LZTR1 DPAGT1 GNRH1 GNE TBL1XR1 KNSTRN KLHL7 RAD21 EBF3 KISS1 TMCO1 RAB18 HP_SPONTANEOUS_RECURRENT_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_RECURRENT_EPISTAXIS LYST GP9 ACVRL1 SRC ITGB3 ENG GDF2 ITGA2B GP1BB GBA GP1BA MYH9 HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL VPS13C TRAF7 ANOS1 NDNF TERT SCN9A DCC GNRH1 ATP7A FGFR1 LRRK2 UCHL1 ARSL SMARCE1 REV3L PODXL CHD7 PEX7 SLC2A3 SEMA3A KIF7 PROKR2 FGF17 ADCY3 VPS35 SHH DNAJC13 ARNT2 HYLS1 ATP13A2 KISS1 SOX10 IL17RD FEZF1 DDX6 SMCHD1 PINK1 PTCH1 CEP290 HTRA2 WDR11 DNAJC6 DNAI1 SUFU SNCA ANK1 PTCH2 BAP1 SEMA3E SCP2 SYNJ1 SMARCB1 NSMF HTT PLXND1 SOX3 NF2 TSHZ1 PDGFB HESX1 SLC39A14 TACR3 FGF8 FOXE3 FLRT3 CCDC141 DUSP6 AKT1 OTX2 GIGYF2 SPRY4 EIF4G1 PTPN11 PROK2 IFT27 MFN2 PRKN SOX2 PHYH SOX9 HS6ST1 KISS1R PIK3CA PARK7 TAC3 GBA SMO HP_HYPOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOSMIA VPS13C ANOS1 SCN9A DCC LRRK2 UCHL1 TSHZ1 PODXL CHD7 SEMA3A SOX10 HESX1 FGF17 SLC39A14 ADCY3 VPS35 DNAJC13 PROKR2 FGFR1 ATP13A2 TACR3 FGF8 IL17RD FEZF1 DDX6 SMCHD1 PINK1 FLRT3 CCDC141 DUSP6 NSMF GIGYF2 SPRY4 EIF4G1 CEP290 HTRA2 PTPN11 DNAJC6 NDNF PROK2 SNCA IFT27 WDR11 PRKN HS6ST1 PARK7 SCP2 GBA SYNJ1 KISS1R HP_DEVIATED_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATED_NASAL_SEPTUM PAH EP300 NONO CREBBP NF1 HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY CLIP2 IFT43 DLL4 DGCR6 RRAS2 FGFR1 CRELD1 NRAS RASA2 TTC37 MGP NAA10 KMT2E TMEM94 ELN MYT1L NOTCH2 LMNA SLC2A10 TCIRG1 EOGT FOXF1 MLXIPL TRMT1 NOTCH1 ACTL6B EFEMP2 FADD AGGF1 JAG1 TNFSF11 RPL10 ITPR1 FBXW11 TGFBR1 PAX6 GDF1 SVBP PTPN11 RBPJ BGN MED13 ZEB2 GTF2IRD1 PIGL GTF2I ESS2 FBLN5 MEG3 ACTL6A SOX10 TANC2 BCOR RFC2 RTL1 KRAS TRAIP SNAI2 B3GLCT BRAF PPP1CB DGCR2 TGFBR2 SOS2 PKD1L1 BCL11B LTBP4 DVL3 TBL2 DGCR8 CLCN7 DOCK3 DDX6 LIFR RLIM A2ML1 WNT4 ARHGAP31 KITLG BPTF SOS1 RAF1 GATA6 PIGN CCNQ DOCK6 TBX1 FBN1 NKX2-5 PSMD12 FLT4 GPC6 BMPR2 SKIV2L MYH7 RRAS BCORL1 BAZ1B TLL1 LIMK1 POLA1 GATA4 EDNRB MMP21 RIT1 NTNG1 TCF20 STRA6 MITF LZTR1 UBE2A COL3A1 MRAS SNX10 WDFY3 CBL CRTAP ZMIZ1 DLK1 TRAPPC4 WRN HP_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_STENOSIS BCL11B CLIP2 IFT43 LTBP4 TBL2 CLCN7 A2ML1 WNT4 ARHGAP31 SOS1 RAF1 RRAS2 FGFR1 GATA6 NRAS PIGN CCNQ RASA2 TTC37 MGP NAA10 ELN NOTCH2 SLC2A10 TCIRG1 MLXIPL GPC6 SKIV2L RRAS JAG1 TNFSF11 RPL10 BAZ1B LIMK1 POLA1 GATA4 PTPN11 RIT1 ZEB2 GTF2IRD1 PIGL GTF2I LZTR1 UBE2A FBLN5 MEG3 BCOR RFC2 RTL1 MRAS KRAS NKX2-5 SNX10 CBL PPP1CB DLK1 EFEMP2 SOS2 WRN HP_PRECOCIOUS_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRECOCIOUS_ATHEROSCLEROSIS TNXB LMNA LDLRAP1 LDLR ABCG8 APOB PCSK9 APOA5 ABCG5 HP_INTERMITTENT_CLAUDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_CLAUDICATION XYLT1 XYLT2 MPL JAK2 TET2 AGXT ABCC6 HP_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOPHLEBITIS HABP2 PROC MTHFR PROS1 SERPINC1 F13A1 AKT1 F2 PTEN HP_RECURRENT_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_THROMBOPHLEBITIS MTHFR HABP2 SERPINC1 F13A1 F2 HP_ARTERIAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_THROMBOSIS JAK2 MEFV HLA-B MPL ERAP1 TP53 TLR4 KLRC4 TET2 IL23R PTPN22 MYH7 IL10 FAS IL12A CBS PROS1 PTEN SH2B3 CALR IL12A-AS1 THPO UBAC2 C4A FCGR2C CCR1 SERPINC1 AKT1 STAT4 HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE ECE1 PTGIS AGT CORIN CYP3A5 STOX1 AGTR1 FLT1 GNB3 AVPR2 NOS3 ADD1 HP_BIPARIETAL_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIPARIETAL_NARROWING RPGRIP1L KIF1A TMEM237 TMEM67 INPP5E CC2D2A NPHP1 ARMC9 ZNF423 KIAA0753 CEP41 CSPP1 TMEM138 CEP120 TMEM231 CUL4B KRAS MCOLN1 TCTN2 ARL3 TMEM216 MKS1 ARL13B ZNHIT3 TUBGCP4 ASXL1 B9D1 SLC16A2 HRAS BRAF CD96 TUBGCP6 PIBF1 ANKRD11 KIF7 TCTN1 AHI1 XRCC4 GATA4 FAM149B1 SC5D KATNIP HNRNPU CPLANE1 MAP2K1 NRAS DHCR7 TCTN3 PDE6D PLK4 PTEN LIG4 KLHL7 MEIS2 KIAA0586 CEP104 CEP290 OFD1 HYLS1 MAP2K2 HP_FLAT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FOREHEAD EXT2 PIK3CD LRP5 CHST14 KNSTRN TWIST1 IARS2 RECQL4 IL11RA KCNH1 B4GALT7 FGFR2 COG7 CAMK2G HP_ABNORMALITY_OF_THE_CHEEK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHEEK KDM6A LRP5 PUF60 TCF4 TUBB4A CTNND2 IFT122 PRMT7 SF3B4 PPP1R15B MAP3K7 SHANK3 LARS1 ZFPM2 ELMO2 EXTL3 TRMT10A TBX1 DPYD RPGRIP1 CCDC22 NRAS EYA1 ARID1B ZNHIT3 ASXL1 ELN MLXIPL VPS33A PSPH CREBBP CEP55 ANKRD11 GJA5 FGFR1 CPLX1 OCRL JAG1 FLNA SETD1B SLC29A3 SIX1 ZNF462 GDF1 CYP26C1 HSPG2 NSD2 PAX1 VPS13B GNAI3 FBLN5 NAA10 MOCS2 GNAS LMNA ANK1 WDR19 SEMA3E GSC KCNH1 SIX5 B9D1 TMEM107 B3GLCT KIF1A FBN1 TFAP2A SNRPN AUTS2 GPC3 SNX14 GATA4 MAFB AGL GPC4 ALX1 WASHC5 GPR101 CLCF1 SPECC1L LMX1B PIGN KDM6B ATP6V0A2 SON TXNL4A GATA5 EXT2 KMT2D MITF MKS1 WDR26 TGDS IDUA HRAS SIM1 FGFR2 EDNRA MSL3 SALL1 UBE2A EDN1 PURA NKX2-5 EFTUD2 NOTCH2 CEP290 IFT52 IRX5 STAG2 CRLF1 EFEMP2 KIF7 SEMA5A MAP2K2 TBCE BCOR INTS1 PLCB4 AIP PIGB POLR1C TMEM216 MOCS1 XYLT2 KRAS TMEM231 STX16 NEK9 GATA6 LETM1 HNRNPK SETD1A IDS PCNT BRAF ALX3 CDK5 PIGQ IARS1 CC2D2A TCTN2 EIF2AK3 TECPR2 SOX11 ACTG1 NKX2-6 SH3BP2 PIGS SVBP SC5D RAB23 ACTB SLC26A2 B9D2 PIK3CA MAP2K1 CCDC88A KIF11 STXBP1 SALL4 TAZ FLT4 UBE3B EIF2S3 TMEM260 MED13L KAT6A AEBP1 CTBP1 KLHL7 ODC1 CHD7 BMP2 IER3IP1 DACT1 ATP7A WDPCP FGFRL1 KCNJ2 TCOF1 TMEM67 LRP1 CHN1 FLNB RPGRIP1L CSPP1 AFF4 NALCN FGF3 KLLN DLK1 KAT6B EP300 ALDH18A1 TASP1 NGLY1 HK1 SH3PXD2B H1-4 WAC KMT2E POLR1D HNRNPU WDR35 TBL1XR1 KIDINS220 PCLO MEG3 CITED2 RTL1 HP_ELFIN_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELFIN_FACIES GTF2IRD1 CYP24A1 INSR BAZ1B CLIP2 LIMK1 GTF2I ELN RFC2 TBL2 HEPHL1 FARSA HP_RECURRENT_VIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_VIRAL_INFECTIONS ZAP70 JAK3 MBL2 CIITA STAT1 SRP54 IL7R RFXAP PIK3CD STK4 MAGT1 CASP8 GFI1 RNF168 EFL1 RFX5 RFXANK FLI1 BTK RAG2 CD3E BTD RMRP SBDS DCLRE1C IRF9 DOCK8 PNP RALGAPA1 JAK1 CTPS1 GATA2 TYK2 CYBB MALT1 RAG1 CD247 SP110 CD3D EPG5 CD8A PGM3 DNAJC21 MCM4 NHEJ1 IL2RG ELANE IL2RA KNSTRN ADA BLM NFKB2 UNC93B1 IGHM TCIRG1 UNC119 HP_SEVERE_COMBINED_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_COMBINED_IMMUNODEFICIENCY CHD7 BCL11B XRCC4 MTHFD1 LIG4 DCLRE1C PTPRC IL7R IL2RG RAG2 PNP JAK3 PRKDC PGM3 EXTL3 AK2 RAG1 TTC7A RMRP ADA HP_AGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGAMMAGLOBULINEMIA LRRC8A CIITA TCF3 IGHM BTK IGLL1 IL2RG CD79A TIMM8A PIK3R1 RFXANK SH3KBP1 CD79B RFXAP IKBKB HELLS CDCA7 RFX5 BLNK HP_CRANIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_HYPEROSTOSIS MAN2B1 IDUA GJA1 AMER1 VCP RPS6KA3 PIK3CA ERCC3 LRP5 SOST PTDSS1 TCIRG1 ERCC2 ALMS1 ABCC9 SLC39A14 LRP4 XPC DDB2 TNFRSF11B TBXAS1 THOC2 FGFR1 TONSL KRAS COL1A1 XPA ERCC5 GNAS HNRNPA2B1 FLNA NOTCH3 TNFRSF11A SMAD4 GJB6 PTEN COX4I2 PRKAR1A CA2 ERCC4 SLC29A3 ANKH AKT1 HNRNPA1 TNFSF11 HP_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_DYSOSTOSIS PDE4D SLC25A24 EDNRA FGFR2 ALX4 POLR1C EFTUD2 RPS26 MSX2 PRKAR1A HP_CORONAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CRANIOSYNOSTOSIS FGFR2 SLC25A24 P4HB POLA1 RECQL4 IL11RA ZEB2 SEC24D ALX4 BPNT2 CEP120 ZIC1 CCBE1 RAB23 POR FGFR3 FGFR1 TWIST1 MASP1 EFNB1 MSX2 GTF2E2 HP_SAGITTAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SAGITTAL_CRANIOSYNOSTOSIS IFT43 SON GLIS3 ZIC1 KRAS DPF2 TBC1D24 HNRNPK RECQL4 IL11RA CDC45 IFT122 FGFR2 DPH1 WDR19 RAB23 HP_LAMBDOIDAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS POR ERF ZIC1 RAC3 HNRNPK TWIST1 RECQL4 IL11RA MASP1 FGFR2 SEC24D BMP4 RAB23 HP_SPHEROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPHEROCYTOSIS ANK1 SLC4A1 SPTA1 EPB42 SPTB HP_ELLIPTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELLIPTOCYTOSIS SPTA1 GYPC SPTB AMMECR1 KCNE5 SLC4A1 TRNT1 NHLRC2 GATA1 EPB41 ACSL4 HP_STOMATOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATOCYTOSIS SPTA1 ERF GYPC SLC2A1 SPTB SLC4A1 RHAG GP1BA ABCB6 ABCG8 EPB41 HP_POIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILOCYTOSIS ANK1 GYPC KIF23 SLC2A1 SPTB AMMECR1 CASK XK UMPS TET2 SLC4A1 GP1BA CFH EPB41 ACSL4 SPTA1 SAR1B EPB42 APOB CFHR1 G6PD KCNE5 PANK2 TRNT1 RHAG TOR1A ABCG8 KCNN4 HBB MPIG6B ERF GATA1 NHLRC2 PIEZO1 CYP4F22 SC5D MPL ADAMTS13 PKLR CAD STEAP3 CALR VPS13A TMPRSS6 MTTP CRIPT JAK2 CDAN1 ABCB6 CFHR3 CDIN1 HP_FULMINANT_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FULMINANT_HEPATIC_FAILURE IL18BP HADH XIAP GFM1 SH2D1A HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES SIX5 NOG COL1A2 COL1A1 ENPP1 NOTCH3 GJB2 TFAP2A POU3F4 PSMD12 IDS EYA1 SETBP1 GDF6 ABCC6 GJB6 BPTF SIX1 HP_DILATATED_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATED_INTERNAL_AUDITORY_CANAL POU3F4 EYA1 GJB6 GJB2 SIX1 HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES ERCC6 OTOF TIMM8A SOX10 ERCC8 ERCC4 HP_CHRONIC_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_BRONCHITIS CCDC65 CFAP298 SERPINA1 DNAAF5 CARMIL2 ZBTB24 RAC2 LRRC6 RSPH4A SCNN1B CCDC151 DNMT3B ZMYND10 CFTR SCNN1A SPAG1 SCNN1G ALMS1 ARMC4 HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX ITGB4 DLL4 MCTP2 BMS1 PLEC HP_PROGRESSIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MACROCEPHALY AKT1 PIK3CA GCDH NDUFS4 GFAP PTEN HP_RELATIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RELATIVE_MACROCEPHALY APC2 ITCH SATB2 PCGF2 HMGA2 APC DOCK3 ACER3 USP7 DDX6 RLIM SNX14 FH XYLT1 IGF2 TONSL TRIP11 BPTF CEP120 DLK1 NXN KMT2E POLE SON ACAN MYT1L SERPINH1 H19 MEG3 CUL4B PSMD12 VPS35L IHH TRMT1 RTL1 ACTL6B DHCR24 OBSL1 BCORL1 PTDSS1 FBXW11 THRA SVBP BGN MED13 IFT81 PLAG1 NTNG1 TCF20 BRAF POP1 NF1 ACTL6A RIT1 TANC2 CDKN1C POLR3A ZMPSTE24 WDFY3 ZMIZ1 TRAPPC4 NONO DPH1 LMNA HP_CRANIOFACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_ASYMMETRY MAF CPLX1 FGFRL1 NSD2 CTBP1 LETM1 HP_CESSATION_OF_HEAD_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CESSATION_OF_HEAD_GROWTH SNRPN PLAA EIF2B2 EIF2B4 EIF2B1 OCA2 UBE3A EIF2B5 ATP10A EIF2B3 HP_MACROCEPHALY_AT_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCEPHALY_AT_BIRTH MYF6 MTMR14 RYR1 BIN1 ODC1 DNM2 PIGN HP_CALVARIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_HYPEROSTOSIS COX4I2 IDUA PRKAR1A SLC39A14 VCP HNRNPA2B1 HNRNPA1 COL1A1 AKT1 PTEN HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES ALPL MSX2 ZMPSTE24 VDR CYP2R1 RBM10 POLR3A CYP27B1 SLC34A3 AGT REN MED12 ACE PEX1 LMNA SETBP1 AGTR1 HP_CRANIOFACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_HYPEROSTOSIS ERCC5 GJA1 AMER1 RPS6KA3 FLNA NOTCH3 ERCC3 SOST PTDSS1 TCIRG1 ERCC2 SMAD4 TNFRSF11A GJB6 ABCC9 LRP4 ERCC4 SLC29A3 XPC DDB2 GNAS ANKH AKT1 TBXAS1 LRP5 FGFR1 TONSL KRAS XPA HP_PANCREATIC_ISLET_CELL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA INSR FAH KCNJ11 LBR DIS3L2 GPC3 ABCC8 HNF1A GPC4 HNF4A UCP2 SLC16A1 HP_SCARRING_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING_ALOPECIA_OF_SCALP RHOA LAMB3 COL17A1 ITGB4 CLDN1 LAMA3 PLEC GJB2 EBP MBTPS2 LAMC2 HP_GENERALIZED_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERTRICHOSIS ATP6V1B2 KCNH1 NEU1 SETBP1 KCNN3 HP_SEVERE_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_PLATYSPONDYLY EXTL3 INPPL1 PCYT1A FGFR3 COL2A1 PAM16 HP_BEAKING_OF_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEAKING_OF_VERTEBRAL_BODIES DYM GLB1 COL2A1 SERPINF1 GORAB RSPRY1 NEPRO PLCB3 AGA GNPTAB SH3PXD2B COMP FUCA1 RINT1 COL11A2 PYCR1 GUSB FLNB NF1 NPR2 TMCO1 B3GALT6 HP_INCREASED_VERTEBRAL_HEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VERTEBRAL_HEIGHT CCDC8 ITCH CUL7 PPP1R15B NOTCH2 TRPV4 MAN2B1 OBSL1 FGFR3 HP_SCLEROTIC_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROTIC_VERTEBRAL_ENDPLATES CCN6 DMP1 SOST ENPP1 CLCN7 HP_BICONCAVE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICONCAVE_VERTEBRAL_BODIES IDUA KIF22 COL1A1 SERPINF1 USP8 IFITM5 FKBP10 GORAB TONSL ZBTB20 COL1A2 MBTPS2 TENT5A AIP NOTCH2 NOTCH3 PYCR1 CBS NANS HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES ALPL WDR35 DYNC2H1 SOX9 LBR COL2A1 BMPER FLNB IFT80 DYNC2I2 TRIP11 VPS35L DYNC2I1 SLC26A2 HP_CERVICAL_C2_C3_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION MEOX1 MYO18B GDF6 AFF4 DKK1 GDF3 HP_LUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_SCOLIOSIS PAPSS2 NIN ATRX TBC1D24 ALMS1 LONP1 COL2A1 HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES SYNE1 TMEM43 LMNA PLEC FHL1 EMD SYNE2 HP_DECREASED_CERVICAL_SPINE_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_MOBILITY HESX1 LHX4 FOXA2 CCN6 POMT2 PROP1 POMT1 OTX2 GMPPB POU1F1 LARGE1 FKRP GLI2 HP_DECREASED_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FACIAL_EXPRESSION CCDC174 ATP6AP2 PIEZO2 EIF2AK2 SLC6A8 DMXL2 DNMT3B GMPPB KLHL41 MAPT DNAJC6 SLC6A3 HSPG2 SMCHD1 PODXL PABPN1 FTL PDGFRB REV3L NR4A2 TRIM32 KDM6A GBA UBA1 VPS35 ASXL3 DNAJC13 STAC3 RRM2B RYR1 ATP13A2 SLC30A10 GLUD2 JAM2 MYH7 TWNK UBA5 ITPR1 PAX6 PLAA TECPR2 FKTN MYL1 POLG ATXN2 RTL1 TPM3 HLA-DQB1 ATP6V1A SLC52A3 HOXB1 SLC6A9 PDGFB PANK2 ADH1C MSTO1 PURA GFM2 SNCA NEB FRG1 DNA2 TANGO2 CC2D1A KCNH1 TAZ SLC20A2 DLK1 BCL11B SPTBN4 TK2 KCNJ6 PIK3CD PLXND1 DCTN1 LRP12 TBP MYH3 MEG3 PLA2G6 PRNP ATP7A ATXN8OS SGCB TXNL4A FA2H MYH2 FBXO7 KMT2D DPM2 UBE3A VAMP1 GLE1 POLG2 FMR1 SLC18A2 GIGYF2 MTM1 EIF4G1 SLC39A14 DUX4 SPR TH LAMA2 TPM2 ATP1A3 SNCAIP SYNJ1 KCNK9 KNSTRN LRRK2 CERT1 ACTA1 EBF3 MRE11 SLC25A4 HP_TALIPES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_VALGUS GABRD CHMP1A MAN2B1 SCN1A RAB3GAP2 GABRG2 HCN1 LIFR STX1B CARS1 SCN2A SCN9A NONO SCN1B ADGRV1 HP_SHORT_FOURTH_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOURTH_METATARSAL PIGS RSPRY1 PHYH PRMT7 FAT4 DCHS1 EZH2 PEX7 HP_2_3_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_TOE_SYNDACTYLY CNOT2 NIPBL BMPR1B DMD ZNF81 SHANK3 PDE6D GDI1 BCOR PAK3 MEIS2 CDC45 SYP MECP2 FDFT1 ARCN1 NEDD4L MED25 RAI1 DDX6 MID2 NOG FGFR2 ARHGEF6 TBX15 BMP2 APC2 RPS6KA3 CLCF1 AGTR2 ZNF711 KCTD1 DHCR7 DDX11 CTCF CNKSR2 PSMD12 TBCK SETD5 POLR3A MYCN DLG3 GDF5 CLCN4 RBPJ HOXD13 SIK3 ALG13 SLC12A2 ZNF41 PIGY MAN1B1 CEP55 LMBR1 PTCHD1 SMAD4 UPF3B FGFR1 ZMIZ1 SOX5 TSPAN7 RAB39B NSD1 TXNL4A SLC9A7 USP9X FRMPD4 IQSEC2 ADNP USP27X ARX BHLHA9 CXorf56 TRIO TTI2 SHMT2 TP63 SLC12A6 STAG1 SETD2 PUF60 IL11RA SYT1 SALL1 MED12 EBP ACSL4 IL1RAPL1 GNE FTSJ1 CERT1 HCFC1 FBXW11 CSGALNACT1 HP_4_5_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_4_5_TOE_SYNDACTYLY HOXD13 TELO2 MYCN RBBP8 TBX15 HP_RENAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MALROTATION STRA6 FIBP SALL4 PAX2 RBM8A SIX1 EYA1 HP_CALCIUM_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIUM_NEPHROLITHIASIS SLC34A3 SLC36A2 OPLAH SLC26A1 GRHPR HOGA1 SLC6A19 AGXT ADCY10 SLC6A20 HP_RENAL_CORTICAL_MICROCYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_MICROCYSTS NEK8 PEX1 INVS TTC37 PEX2 HP_CROSSED_FUSED_RENAL_ECTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CROSSED_FUSED_RENAL_ECTOPIA KMT2D KDM6A APC WT1 LRP4 SALL4 DACT1 DDX59 HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY RTTN IARS1 TELO2 FANCC FANCD2 PIGY TP63 FANCE EYA1 MAPK1 KMT2D FANCA PIGL LAMC2 POGZ TNXB LAMA3 LAMB3 KDM6A JAG1 SIX1 PIGN PIGA HP_ATRIAL_FLUTTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_FLUTTER TLL1 GATA4 SCN5A NKX2-5 CITED2 NUP155 TBX20 LMNA TNNI3K NR2F2 GATA6 CLIC2 CRELD1 SCN3B SGO1 ACTC1 MT-CYB MYH6 DMPK HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA SCN1B HCN4 SCN10A AKAP9 KCND3 ABCC9 SCN3B GPD1L SLMAP PKP2 SCN2B JUP KCNE3 SCNN1A RANGRF KCNJ8 TRPM4 GNAI2 SEMA3A SCN5A CACNA1C KCNE5 CACNB2 CACNA2D1 HP_SUPRAVENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_TACHYCARDIA SCN1B DMPK ACTN2 SCN5A NKX2-5 KCND3 TBX20 ABCC9 SCN3B GPD1L PKP2 NAA10 SCN2B DNMT3A CACNA1S ACTC1 FLAD1 SEMA3A SLC19A2 MYH6 CITED2 BMP2 CACNB2 HCN4 SCN10A AKAP9 TNNI3K SLMAP PRKAG2 MYL2 GATA6 KCNE3 SCNN1A RANGRF GATA4 KCNJ8 TRPM4 MT-CYB RYR1 CACNA1C KCNE5 LMNA TLL1 CACNA2D1 HP_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_TACHYCARDIA CASQ2 SLC25A20 SCN1B TECRL DSP RYR2 NDUFB11 KCND3 CALM1 ABCC9 SCN3B GPD1L PKP2 NAA10 SCN2B BTNL2 TPM1 TRDN CACNA1S JUP GNAI2 SEMA3A TTN CTNNA3 CALM2 CACNB2 GYG1 DSG2 ACADVL HCN4 SCN10A HLA-DRB1 AKAP9 CSRP3 SLMAP MYL2 TMEM43 CDH2 KCNE3 SCNN1A JPH2 RANGRF KCNJ8 TRPM4 MT-CYB RYR1 SCN5A TANGO2 CACNA1C KCNE5 MYOZ2 CALM3 SLC12A3 CACNA2D1 HP_PAROXYSMAL_ATRIAL_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_ATRIAL_FIBRILLATION PRKAG2 SCN5A KCNJ5 KCNA5 ABCC9 KCNJ2 SCN2B CSRP3 KCNH2 GJA5 MYL4 TBX5 KCNE2 SCN1B HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA PRKAG2 SCN5A SLC19A2 TNNI3K BMP2 HP_ESOPHAGEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ULCERATION JUP CTHRC1 COL7A1 MSR1 DSP PLA2G4A MMP1 ASCC1 HP_MALROTATION_OF_SMALL_BOWEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALROTATION_OF_SMALL_BOWEL WNT4 DSE CPLX1 FGFRL1 NSD2 CTBP1 LETM1 CHST14 HP_GASTROINTESTINAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_OBSTRUCTION SDHC TP53 EDN3 HMBS SLC6A8 BRCA1 SOX10 KRAS FOXP3 JAK3 SDHD FCGR2A CFTR CAVIN1 HLA-DPA1 F5 EDNRB TGFB1 NRTN PALB2 JAK2 TNFRSF1A SDHB APC ERCC2 C12orf65 CTLA4 KIT SEMA3D NOD2 FAH MEFV ECE1 MYC CDKN2A CD55 STK11 PDGFRB HLA-DPB1 PTPN22 GDNF MNX1 IL6 SEMA3C SDHA TBCE PRTN3 MITF RET CTNNB1 EWSR1 PALLD BRCA2 MVK SMAD4 NOTCH3 WT1 PDGFRA GUCY2C PPOX HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT ZAP70 MAN2B1 JAK3 SRP54 RFXAP CD3E NBN SP110 GFI1 TNFRSF13B COG4 FOXP3 EGFR CORIN NFKBIA RFX5 CD3G CARMIL2 SH3KBP1 ELANE ADAM17 DCLRE1C AICDA IRF9 SLC35C1 VPS33A BLM RFXANK STOX1 FLT1 TCIRG1 ADAT3 IFNGR1 CIITA HP_CONGENITAL_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEMOLYTIC_ANEMIA SPTA1 GYPC KCNN4 SPTB EPB41 SLC4A1 PKLR PIEZO1 HP_ACUTE_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_MYELOID_LEUKEMIA GFI1 SRP54 JAK2 CBFB DDX41 SBDS PICALM KRAS MLLT10 CDKN2A EFL1 KIT RPS24 GATA1 ETV6 RUNX1 TET2 TSR2 RPL26 MPL RPS26 RPS28 THPO SH3GL1 MEFV RPS17 BRCA2 SRSF2 RPL11 RPS19 CHEK2 FLT3 RPS29 RPL18 NPM1 PIGA DNAJC21 SF3B1 ADA2 ASXL1 DNMT3A RPL5 RPL35A RPS10 GATA2 RPL35 RPL15 RPS7 ELANE TP53 MDM2 RPL31 RPS27 ERBB3 CHIC2 TERT RPS14 RPS15A NUP214 BLM DKC1 SAMD9L LPP TCIRG1 CEBPA RPL27 SAMD9 HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA RNASEH2B ADAR ITGB3 SAMHD1 RNASEH2C ITGA2 CD109 RNASEH2A TREX1 GP1BA GP1BB ITGA2B IFIH1 HP_ANISOPOIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOPOIKILOCYTOSIS MPIG6B CRIPT SC5D STEAP3 KCNN4 HBB CAD HP_HYPOCHROMIC_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA LPIN2 HBA1 HBA2 SHPK HBB TRNT1 DNAJC19 TMPRSS6 ATRX ABCB7 CP ALAS2 HP_REDUCED_FACTOR_XII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XII_ACTIVITY MAP2K1 BRAF F12 PTPN11 MGAT2 HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA FAS FASLG PRKCD CASP10 TNFRSF4 FOXP3 RASGRP1 HP_PROLONGED_BLEEDING_AFTER_SURGERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_SURGERY GP1BA F13B P2RY12 F10 SERPINE1 F7 F8 ITGB3 ITGA2B GP1BB MCFD2 LMAN1 GP9 F5 F13A1 VWF HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA MECOM MAP2K1 BRAF MPL HOXA11 PTPN11 HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION IKZF5 P2RY12 HPS6 THPO AP3B1 CALR SH2B3 HP_CHRONIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEMOLYTIC_ANEMIA TPI1 ABCG8 PKLR HBB NHLRC2 SPTB HP_PERINEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERINEAL_FISTULA RECQL4 KDM6A SALL1 TGFB1 CDK8 KMT2D DACT1 TCTN3 HP_EPISODIC_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_RESPIRATORY_DISTRESS MYO9A MT-ND4 MT-ND6 VAMP1 SNAP25 COL13A1 MT-TW MT-TL1 MT-ND3 MT-ATP6 SYT2 MT-ND1 CHAT SLC25A1 MT-TV MT-TK MT-ND2 SLC5A7 MT-ND5 SLC18A3 AGRN HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION UNC93B1 SMPD1 TICAM1 DMPK MTM1 TBCD CSF2RA NDUFAF8 CSF2RB TK2 TRAF3 TBK1 POLR1B TRMU IGHMBP2 MT-TE TLR3 HPDL AHDC1 GAA TSEN54 PRPS1 GNPTAB BCHE HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS MYO9A VAMP1 SNAP25 COL13A1 MYH7 SYT2 CHAT SLC25A1 SELENON SLC5A7 SLC18A3 AGRN TTN HP_SEVERE_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_LACTIC_ACIDOSIS PDHA1 SLC25A26 PDSS2 TRMU COQ2 MT-TT MT-TE HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG HNF4A BLK RTL1 KLF11 ABCC8 HNF1B PAX4 INS PLAGL1 MEG3 HYMAI ZFP57 KCNJ11 CEL HNF1A APPL1 GCK PDX1 PCBD1 DLK1 NEUROD1 HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS GATM EHHADH SLC34A1 NDUFAF6 SLC4A4 HP_HYPOPHOSPHATEMIC_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIC_RICKETS STAT6 KRAS FAH ENPP1 CLCN5 NDUFAF6 SLC34A3 GATM ABCC6 NRAS NAB2 DMP1 SLC34A1 FGF23 HNF4A EHHADH CTNS PHEX HRAS HP_ABNORMAL_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAGNESIUM_CONCENTRATION CASR TRPM6 FXYD2 CNNM2 EGF SARS2 SLC12A3 SLC12A1 FOXP3 GABRA3 KCNJ18 GCM2 KCNJ10 CLDN10 KCNJ1 TBCE CLCNKB GNA11 PLVAP ALDOB CLDN16 AP2S1 CACNA1S PCBD1 CLDN19 ATP1A1 HP_HYPERPHENYLALANINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHENYLALANINEMIA GCH1 PAH PCBD1 QDPR PTS HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE APPL1 GCK HNF1A INS HSD3B2 PDX1 SLC5A1 KLF11 KCNJ11 PAX4 ABCC8 BLK CEL NEUROD1 HNF4A HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION B2M LEP VPS35 GIGYF2 LEPR DNAJC13 ARSA COQ2 NTRK1 SNCA LRRK2 EIF4G1 LMNB1 PSAP GSN GBA TTR HP_PULMONARY_ARTERY_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_DILATATION TLL1 FBXW11 TGFBR1 SVBP DOCK3 BGN DDX6 MED13 RLIM NTNG1 TCF20 BPTF ACTL6A TANC2 KMT2E COL3A1 MYT1L FOXF1 FBN1 WDFY3 PSMD12 TRMT1 ZMIZ1 ACTL6B TRAPPC4 TGFBR2 EFEMP2 BCORL1 HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE NME8 CLIP2 IFT43 RPGR HES7 RSPH4A DGCR6 CCDC151 RRAS2 FGFR1 NRAS RASA2 TTC37 MGP NAA10 ELN MYT1L NOTCH2 TCIRG1 EOGT FOXF1 MLXIPL SMAD4 CITED2 RSPO2 TRMT1 CCDC114 NOTCH1 ACTL6B AGGF1 TNFSF11 ITPR1 FBXW11 GDF1 ACVRL1 RBPJ MED13 CCDC103 ZEB2 GTF2IRD1 ZMYND10 GTF2I CCNO ESS2 FBLN5 DNAAF6 ACTL6A SOX10 TANC2 BCOR WT1 CFAP298 RFC2 LRRC6 STK36 NEK10 CCDC65 TGFBR2 DNAAF4 SOS2 PKD1L1 BCL11B TBL2 DGCR8 RSPH1 GAS2L2 DOCK3 GAS8 DDX6 LIFR A2ML1 WNT4 EIF2AK4 KITLG SOS1 RAF1 PIGN CCNQ DNAL1 DNAH11 ARHGAP31 DNAH9 FBN1 GPC6 BMPR2 SLC2A10 SKIV2L MYH7 DHCR24 DNAI2 LIMK1 POLA1 EDNRB RPS15A MMP21 GATA4 DNAAF1 VHL NTNG1 TCF20 DNAH1 MITF UBE2A NR2F2 COL3A1 MRAS FOXJ1 SNX10 OFD1 CBL CRTAP ZMIZ1 DLK1 DVL3 EFEMP2 DNAAF3 WRN SPAG1 DLL4 CFAP300 ENG DNAH5 DNAAF5 MYRF TBX5 CRELD1 KMT2E TMEM94 CCDC40 WNT3 HYDIN SMC1A LMNA MESP2 FADD JAG1 RPL10 TGFBR1 PAX6 LRRC56 SVBP PTPN11 BGN PIGL CFAP221 SPEF2 MEG3 DRC1 RTL1 RIPPLY2 KRAS TRAIP SNAI2 B3GLCT RSPH9 BRAF PPP1CB DGCR2 DNAAF2 DLL3 CCND1 LTBP4 CLCN7 TMEM260 TTC12 RLIM TTC25 CDC42 BPTF GATA6 ARMC4 DOCK6 TBX1 FOXC2 NKX2-5 PSMD12 FLT4 RRAS BCORL1 BAZ1B TLL1 RIT1 STRA6 LZTR1 DNAJB13 MCIDAS PORCN LFNG CCDC39 RSPH3 WDFY3 DNAI1 TRAPPC4 HP_ASCENDING_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_AORTIC_DISSECTION TGFBR1 MFAP5 MYH11 LOX NKX2-5 MAT2A GATA5 TGFBR2 SMAD3 PRKG1 FOXE3 TGFB2 ELN SMAD6 TGFB3 ACTA2 COL3A1 FBN1 MYLK SMAD4 NOTCH1 HP_VASCULAR_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_CALCIFICATION RNASEH2B STAT1 ADAR ABCG8 GALNT3 NKX2-5 ENPP1 PCSK9 HGD GBA ERCC6 GATA5 RNASEH2A TREX1 PDGFB NT5E ERCC8 ABCC6 PDGFRB ABCG5 SAMHD1 RNASEH2C IFIH1 SMAD6 LDLRAP1 LDLR SLC20A2 APOB NOTCH1 HP_PULMONARY_ARTERY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ATRESIA PKD1L1 ARHGAP31 DOCK6 GDF1 DVL3 TMEM94 FADD DGCR8 DLL4 MMP21 RBPJ TBX1 EOGT NKX2-5 STRA6 FLT4 NOTCH1 DGCR6 ESS2 DGCR2 CRELD1 HP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_THROMBOSIS SPINK1 JAK2 PROC TET2 SMAD4 NOTCH1 PROS1 FGB PMM2 GNAQ MPL THPO MMACHC MTRR CPA1 CCR1 PDGFRA SERPINC1 PRSS2 AGGF1 STAT4 HBB USP8 TP53 IL23R IL10 PIEZO1 FAS CD55 UBA1 CBS ENG PTEN PDE4D PRTN3 HABP2 SERPIND1 CALR MTHFR AKT1 KIF11 FGA GDF2 PIGM FGG IDH1 ERAP1 TLR4 SLC4A1 CTRC HLA-DPA1 ACVRL1 CASR PRSS1 CDH23 F5 UBAC2 IDH2 CTLA4 PRKAR1A CFTR CTNNB1 MEFV MET PLAT HLA-B KLRC4 F9 PGM1 IL12A HLA-DPB1 PTPN22 F2 SH2B3 IL12A-AS1 THBD C4A KCNN4 F13A1 EPOR PTH1R SAA1 HP_PULMONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ANEURYSM TGFBR1 COL3A1 TGFBR2 BGN EFEMP2 HP_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ANEURYSM NOD2 RNASEH2B CLIP2 MYH11 MLX MAT2A ERCC6 FBN2 TGFBR2 ARFGEF2 KCNH1 TPM3 PRKG1 CYP17A1 COL5A2 KMT2E SAMHD1 DNMT3A MYT1L SMAD6 LMNA TSC2 HNRNPK FBN1 ACTA2 HGD ELN TPM2 SMAD4 TRMT1 KANSL1 ACTL6B CYP11B1 EFEMP2 TGFBR1 RAI1 B3GALT6 FBXW11 PGM3 CRKL SVBP SKI ARF1 PTPN22 MED13 FMR1 B3GAT3 GTF2IRD1 APC2 GATA5 TREX1 GTF2I PTEN SMAD3 COL1A1 MFAP5 POR ACTL6A FOXE3 ZMPSTE24 TANC2 MAPK1 KCNAB2 PRDM16 ANGPTL6 RFC2 MYPN TMTC3 IL12B TGFB3 MYLK MED12 C12orf57 SEMA3E FLNB TGFBR3 NEDD4L NKAP BCR ADAR BRF1 TBL2 PKD1 NKX2-5 DOCK3 DDX6 ERMARD RLIM RNASEH2A AEBP1 ROBO4 BPTF ERCC8 CHD7 SLC25A24 PIGN FLNA NSD1 COL3A1 ENG NSMCE2 TSC1 BICC1 FBLN5 CARS1 PSMD12 AFF4 THSD1 SLC2A10 TAB2 BCORL1 BAZ1B LIMK1 HLA-B LOX GANAB GABRD ALDH18A1 SETD2 NTNG1 TCF20 CHST3 MYH3 TGFB2 COL1A2 RIN2 RNASEH2C COL5A1 PKD2 MAP1B WDFY3 ZMIZ1 TRAPPC4 PLOD1 RERE IFIH1 CHRNG NOTCH1 HP_ACCELERATED_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_ATHEROSCLEROSIS APOE ABCA1 XYLT1 CYP7A1 XYLT2 ABCC6 LMNA HP_DILATATION_OF_THE_CEREBRAL_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_CEREBRAL_ARTERY STAT1 TGFBR1 MFAP5 LOX GANAB PKD1 BGN MAT2A PCNT TGFBR2 SMAD3 COL1A1 MYH11 COL4A1 PRKG1 FARSB GAA FOXE3 TGFB2 PLOD3 COL5A2 ANGPTL6 ELN COL5A1 COL3A1 ENG TGFB3 PRKAR1A PKD2 GGCX BICC1 ACTA2 NF1 TGFBR3 THSD1 FBN1 MYLK SMAD4 HP_ARTERIOVENOUS_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_FISTULA ACVRL1 COL5A2 COL3A1 ENG COL5A1 EPHB4 SMAD4 COL1A1 RASA1 GDF2 AGGF1 HP_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_TORTUOSITY TGFBR1 SMAD3 MT-ATP6 MT-ND4 TGFB2 RASA1 NT5E APP MT-CO3 TGFBR2 MT-CYB MT-ND2 NEK1 MT-ND1 MT-ND4L SLC2A10 MT-ND6 EFEMP2 ATP7A MT-ND5 SELENOI FBLN5 HP_PERIPHERAL_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_ARTERIAL_STENOSIS MFAP5 JAK2 TGFBR1 LOX ABCG8 MAT2A PCSK9 LMNA APOE TGFBR2 SMAD3 MYH11 PRKG1 ABCG5 FOXE3 TGFB2 ELN MPL THPO TGFB3 ACTA2 IDS ABCC6 LDLRAP1 LDLR APOB FBN1 MYLK AGXT SMAD4 HP_DESCENDING_THORACIC_AORTA_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESCENDING_THORACIC_AORTA_ANEURYSM TGFB2 TGFBR1 MFAP5 LOX ELN MYH11 MAT2A TGFB3 ACTA2 TGFBR2 SMAD3 FBN1 MYLK PRKG1 SMAD4 FOXE3 HP_THORACIC_AORTA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTA_CALCIFICATION GATA5 IFIH1 NKX2-5 SMAD6 NOTCH1 HP_CALCIFICATION_OF_THE_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_THE_AORTA RNASEH2B ADAR SAMHD1 RNASEH2C IFIH1 ABCG8 NKX2-5 SMAD6 ENPP1 PCSK9 GBA GATA5 RNASEH2A TREX1 LDLRAP1 LDLR ABCC6 APOB ABCG5 NOTCH1 HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS BAZ1B CLIP2 LIMK1 IFT43 ELN TBL2 GTF2IRD1 PIGL GTF2I UBE2A FBLN5 FGFR1 PIGN CCNQ TTC37 BCOR MGP RFC2 NOTCH2 MLXIPL PPP1CB SKIV2L EFEMP2 JAG1 HP_ASCENDING_TUBULAR_AORTA_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM ZMPSTE24 TGFBR1 HLA-B ACTA2 BRF1 MLX COL3A1 SMAD3 IL12B MED12 FMR1 FBN1 LMNA TGFBR2 B3GALT6 FBLN5 HP_ELEVATED_MEAN_ARTERIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE ECE1 PTGIS AGT CYP3A5 AGTR1 GNB3 NOS3 ADD1 HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS PLEKHM1 TCIRG1 CLCN7 GBA ANKH PSAP ABCC9 HP_KNEE_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_DISLOCATION SLC10A7 RYR1 EXOC6B B3GAT3 AEBP1 CHST3 FLNB SLC35A3 HP_METAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_SCLEROSIS CENPE KIF22 RECQL4 SRP54 SBDS ANAPC1 CTC1 MMP13 ACP5 COL2A1 DNAJC21 HP_RHIZOMELIC_ARM_SHORTENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIC_ARM_SHORTENING KIAA0586 DYM MYSM1 GPX4 SLC26A2 CSPP1 FZD2 HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS SMARCAL1 PLOD3 KIF22 TRAPPC2 COL2A1 PIK3C2A COL11A2 EXTL3 CDC6 MATN3 IFT140 COMP ADAMTSL2 CHST3 HP_DIAPHYSEAL_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_THICKENING SLC35D1 SHOX PTDSS1 IDUA INPPL1 LRP4 LBR TBXAS1 LRP5 SOST IDS RMRP GUSB HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES SOX9 TRPV4 KCNH1 NOG FIG4 VAC14 HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS FGFR3 FGFR2 TWIST1 CHSY1 HOXA11 HP_SYNOSTOSIS_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPAL_BONES FGFR2 SALL4 FLNA GDF5 NOG HOXA13 PITX1 PAX3 MACROH2A1 EVC2 MAP3K7 ROR2 APC LRP4 ESCO2 NXN SMOC1 BMPR1B EVC DYNC2LI1 COL11A2 GLI1 BHLHA9 HP_METAPHYSEAL_SPURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_SPURS ATP7A DYNC2H1 DLK1 RTL1 MATN3 MEG3 HP_HYPEREXTENSIBILITY_AT_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_AT_WRISTS COL6A3 COL6A1 COL12A1 COL6A2 RNF13 PYCR2 HP_ABNORMAL_METAPHYSEAL_TRABECULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METAPHYSEAL_TRABECULATION USB1 TINF2 AMER1 NPM1 LIFR TNFRSF11A NOP10 PLCB3 TCIRG1 VDR TERC CTC1 SLC29A3 WRAP53 PARN PORCN RTEL1 TNFRSF11B NHP2 TRPV4 DKC1 NOTCH2 TERT HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT LMX1A MYH9 SMPX RPGR AP1S2 GJB3 DSPP HP_ABNORMAL_NASAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MORPHOLOGY WDR35 RHO CLIP2 NODAL NFIX UNC80 GJA5 CDH11 SOX4 HES7 FOXL2 AP4M1 SF3B4 QRICH1 SHANK3 SLC9A6 ABCC9 PEX12 ACOX1 SPATA5 KCNA1 GPC6 TUBB B9D1 PEX6 PREPL KANSL1 SAG POGZ TRPS1 FGFR2 SIK1 GJA8 MAGEL2 MAN1B1 TBC1D20 PIK3R2 ARL3 RAC1 ARHGEF6 GDF1 ARID1A NSD2 DHCR7 PIK3R1 ASXL1 CTSD HYMAI KATNIP TNNI2 NSUN2 ACTL6A RNU4ATAC WDR37 FUCA1 STAT3 NFIA KCNH1 AP1S2 PDE4D BRF1 DGCR8 BRCC3 AHI1 GPC3 PEX5 COX7B DEAF1 PEX26 PIK3CA GP1BB ADNP LMX1B NELFA KCNE5 DYNC2I2 PYCR2 ERCC5 CARS1 SKIV2L TTI2 SATB2 ERCC8 NBN PTCH1 IRF6 DLL1 RELN RNF13 HRAS SCN1B CCDC8 PCARE NFASC CKAP2L COL18A1 COG7 GMNN ATAD3A GDF5 NPAP1 HPDL DVL3 SMC3 KIF7 SNORD116-1 SEMA5A RBBP8 DPH1 GRIN2A ATRX PIEZO2 IGF1R AIP MAF HSPG2 MOCS1 YWHAE ADSL SIN3A TTC37 TMEM216 KMT2E RLIM RHOBTB2 DLX4 MKRN3 WNT7A MARS2 TONSL FDFT1 TUBGCP6 ALX3 ASPH RGR IMPDH1 CRKL DIS3L2 BUB3 RUNX2 EIF2AK3 HDAC6 RTL1 TDGF1 PIGS SOS1 AP4S1 TWIST2 RAB23 CNKSR2 TWIST1 B3GLCT PPP1CB GLI2 AP4B1 AIFM1 EXT2 BRAF PEPD EFNB1 GNAS NONO IL1RAPL1 LTBP4 RBM10 PGAP2 TRAPPC9 AKT3 IFT172 HDAC8 CEP120 PHF8 AGBL5 RDH11 TAF1 KCNJ2 FRMPD4 TBX1 GJA1 CHN1 FLNB DDX3X ATP6V1E1 PSMD12 TRPV4 MDH1 B4GALT7 OPHN1 TP63 PRKAR1A DYNC2I1 ZEB2 NECTIN1 NPHP1 COL11A2 IFT80 FGFR1 PRMT7 DDRGK1 CIT ANTXR1 HNRNPK NRAS DCHS1 RPL5 TBCK CA4 HCCS ANKH FTSJ1 HCFC1 WDFY3 PPP1R12A ASXL2 FRAS1 FGFR3 INPPL1 RERE TMCO1 KCNMA1 KIT CACNA1G PGAP3 COLEC10 DOK7 COL2A1 SNRNP200 SUMF1 DOCK7 PIGV CD96 MAFB PAX3 MKS1 PIGN UFD1 AMMECR1 XYLT1 TRMT1 SMC1A ANKRD11 PLAGL1 KDM3B TBC1D24 RPL10 ZNF462 MED13 GTF2IRD1 ESS2 AP4E1 ESCO2 UBR1 TRIP12 ANK1 ITGA3 PDE6D LIG4 ZBTB18 SLC25A46 AHDC1 NALCN EZH2 NIN DYRK1A BCR KIF1A ATR PMM2 PIK3CD LRAT DENND5A MRAS MDM2 LRP2 PRKDC ZMIZ1 PTPRF GATA1 KDM6B LRP4 STAG1 FOXP1 CNOT1 INSR NAGA CDH2 POLE LMNA CEP41 CDK13 ADAT3 TRIO NEPRO CHST3 FGF3 PURA KDM5C BRCA1 KCNK9 GRIP1 PDGFRB JMJD1C NPR2 PTCH2 TLK2 CPLANE1 UQCC2 EDARADD RPL27 ETFA PPP2CA FMR1 PEX14 ZIC2 ADAMTS3 CNOT2 PITX2 CRLF1 UBA1 NDP FOXH1 KRAS SIX3 FGF8 GATA6 SHH EXTL3 NSDHL NR2F1 PLAA PEX10 LARP7 ACTG1 NKX2-6 ACTL6B ZC4H2 NIPBL HERC1 SON CANT1 POR CCBE1 CDON PEX3 PIGY RPS7 NEU1 LONP1 TFAP2A RAI1 KIF11 MTX2 CLCN4 BLM ALG13 REEP6 MYH3 PEX16 TAF6 GNPAT MED13L KDM1A COL11A1 ALDH6A1 MSX1 PTCHD1 PAX1 ODC1 CHD7 MESD CDKN1C FLI1 HDAC4 TOR1A CPT2 AFF4 TALDO1 PIGO METTL23 EP300 ARX SLC18A3 ROM1 EBP OTX2 TGIF1 THOC6 GNE TFAP2B PIGU EYA1 TNNT3 KLHL7 PCLO STAMBP IDS CSNK2A1 GATAD2B UMPS KLHL15 ABL1 PIGW SMPD4 SCYL2 KIAA1109 EYS SLX4 TMEM231 TSR2 IGBP1 TRMT10A TENT5A KMT2A TPM2 RPGR HNRNPH2 PDE6B MLXIPL FREM1 MBD5 B3GALT6 ALX4 CPLX1 PEX2 MEG3 ATP6V1A NEXMIF SETBP1 PTEN RSPO2 BCOR LSS SLC17A5 NACC1 CLTCL1 SRCAP TMEM67 AUTS2 CC2D2A SNX14 SOX10 DDR2 ALX1 CEP55 SLC25A22 RIPK4 DYNC1I2 DYNC2H1 GATA5 PPP1R15B FBN1 GPX4 BMPR1B FRMD4A ATP6V1B2 UPF3B DYNC2LI1 GPAA1 SHOC2 DHCR24 PWAR1 CASK C2CD3 WASHC5 SPECC1L PEX1 CCDC47 UBE2A CBL COL1A2 ADAMTSL2 ERCC1 SMARCAL1 SOX9 IFT52 CERT1 SUFU CAMTA1 PROK2 CEP104 CDKL5 MAB21L1 SMARCA4 RPGRIP1L RECQL4 SPRY4 PCNT POLR1C EIF2S3 KIAA1549 GNPTAB DPF2 MRPS14 FAT4 TMEM94 LETM1 FLNA SETD1A BNC2 GPC4 MPLKIP KISS1R TRIM32 AGTR2 PEX7 HOXB1 CTCF TTC8 ERF RIPPLY2 DMXL2 IFT57 DGCR2 PTPN11 GNRHR HSD17B4 SETD2 ZNF41 KAT6A FGD1 CDC42 POLR1A PAFAH1B1 ALG12 SLC9A7 KCNJ11 DPM2 RALGAPA1 TBC1D23 MED12 MTOR PIK3C2A PIGG PUF60 PBX1 CTNNB1 HGSNAT STXBP1 ANOS1 SOST CCNQ PHF21A PLK4 UGP2 ABCA4 PACS1 RAB18 KMT2B HSPA9 APC GLI3 CTNND2 WDPCP TSHB ACSL4 ATP6V0A2 KCNJ6 ZNF341 FLII ARID1B MID1 VPS33A INPP5E RAF1 SNAI2 ZNHIT3 EXT1 MECP2 RAB3GAP2 NSMF MEGF8 BMPR1A RPS6KA3 ACY1 BBS10 DONSON TAB2 RREB1 DNMT3B SEC23A MOCS2 TANC2 DISP1 RPL35 KIZ SETD5 RPL31 HIRA CENPE SNRPN NRXN1 LIFR DSE PPP2R1A ATN1 CRX CAMKMT NSMCE3 GBA PACS2 CLP1 SNAP29 FOXG1 ARL13B COG1 KMT2D USP9X HYAL1 FANCL SLC2A10 PROM1 TUBGCP2 BMP2 DVL1 GAD1 PTH1R SET MYOD1 BBS7 CDK19 IQSEC2 TBX2 OFD1 AIMP2 PLOD3 MASP1 COL3A1 AGL DLK1 COG6 MAP2K2 PDE6G CRB1 TAPT1 CEP152 SCARF2 PIGT SRD5A3 EDNRB PRCD ATPAF2 NXN PIGP PEX19 CACNA1C MGP VPS35L SYP NF1 CILK1 EFEMP2 JAG1 MID2 SLC29A3 TULP1 IFT43 EFTUD2 SOX11 MVK ZNF711 MKKS SVBP WAC MITF BBS4 PAM16 KIAA0586 SALL4 CEP57 TCTN3 PRPH2 FAR1 BBS12 CHD8 PRRX1 HS6ST1 TMEM237 HUWE1 GUCA1B CTBP1 TSPAN7 PWRN1 RPS26 WDR4 TUBGCP4 ELN USP27X PRPF6 PLOD1 BCORL1 RARB SYT1 RTTN ERCC2 PORCN RPS27 YARS2 ARSB GAS1 HIC1 UBE3B APC2 KDM6A PAK3 ACER3 ARMC9 ADGRG6 CHD3 WNT5A AGA DHPS IFT122 RMRP DMD MAP3K7 RB1 GDI1 ZFPM2 DPYD CCDC22 NOTCH2 ACP5 IFT27 CREBBP PIGQ ZBTB24 FAM20C IFT140 RIC1 SPART KCTD1 KIFBP ADA2 PPM1B KCNJ8 C8orf37 RAD21 ALG3 BPTF RP1 TBL2 RBMX ALG9 CLCF1 WDR11 ABCC8 TXNL4A RUSC2 ACAN TCF4 HERC2 GGCX COG4 ACTB VAC14 OBSL1 LIMK1 SIM1 EDNRA ZNF513 MSL3 SMARCA2 DCAF17 LINS1 FTO ADAMTS18 DHX37 LBR SMS RPS15A YY1 CCND2 NOVA2 MN1 RSRC1 PUS1 NEK2 NCAPG2 BPNT2 GLUL PIGA EIF4A3 COMT IFT88 HMGA2 FUT8 SNORD115-1 MADD RPL11 RPS19 MED25 TCTN1 NAA10 FBXL3 GLIS3 SHROOM4 TMEM107 WDR19 VANGL2 PIGL HECW2 PEX13 SMARCD1 PQBP1 BBS9 RPS10 MAP2K1 NHS TACR3 AKT1 DLL3 ZSWIM6 RAB3GAP1 PLEC WNT3 USH2A SLC25A24 NDUFB11 DOCK3 ARHGEF18 FHL1 RPS28 NOTCH3 METTL5 NDN PIBF1 TRIP11 KAT6B GATA4 SLC39A13 SPOP SPRTN STRA6 ITGB6 SC5D CUL7 EMG1 SMARCC2 RBP3 CWC27 TBL1XR1 KNSTRN MEIS2 PYCR1 STIM1 ZMPSTE24 POC1A PEX11B SLC7A14 ERCC6 TOPORS COX4I1 DGCR6 LTBP3 FZD2 SIX2 SEMA4A MYT1L IDH3A VPS53 MAPK1 AMER1 NANS KAT8 LEMD3 BBS1 FOXC1 BBS2 SOX6 NUP188 OCLN INTU FAM149B1 ETFB PROKR2 SMCHD1 PDE6A TRRAP RPL15 RFC2 AFF2 ADAMTSL1 SOX18 ORC6 DDX6 KIAA0753 TMEM138 SMARCE1 MEF2C FREM2 TCTN2 PSAT1 CNOT3 GHR MCTP2 IDUA EHMT1 STRADA EEF1A2 NEUROD2 KCNN3 NKX2-5 NEK1 CTU2 CDCA7 STAG2 AHR PLA2G6 MAK PHIP ERGIC1 INTS1 RSPRY1 ZNF81 SLC35A2 CUL4B SHOX STX16 TRIM8 PUS7 HBB P4HTM NDE1 MYMK DHX38 ARID2 EDA SLC26A2 TOE1 POU1F1 MOGS HYOU1 CDK10 RPL35A RLBP1 CNGA1 NR2E3 PRDM16 SOX5 SLC45A1 CTSK CENPF PPP2R5D ZNF423 IDH3B ARVCF IER3IP1 BEST1 AVP PRPF31 MERTK CSPP1 PPP2R3C BAZ1B WARS2 PRKD1 NGLY1 SDCCAG8 MYCN SH3PXD2B PRPF8 POLR1D GNRH1 LFNG COL1A1 DCPS PAH MYO18B TRAPPC4 DHDDS KISS1 DPM1 RBM8A FBXO31 RAC3 BUB1B PRPS1 LMBR1 SKI RP2 PRPF4 SLC35C1 FBXW11 KIF14 SEC24C NRL PSMB8 GTPBP2 GTF2I HBA2 SEMA3E KYNU RPS23 SLC3A1 ARL2BP MIR140 OTUD6B BMPER TRIM37 POMGNT1 CLRN1 HELLS WDR26 XRCC4 CNTNAP2 NUP88 NTNG1 TCF20 SEPTIN9 NFIB SNIP1 RP9 ATIC HIVEP2 FSCN2 CRIPT ADAMTS2 ARL6 PIGB GPRASP2 CERKL ASXL3 COG5 COG8 MESP2 SMG9 WDR73 KPTN ETFDH PKDCC BBIP1 B3GAT3 ABCA5 SCN2A COLEC11 KCNAB2 POLR3A TAC3 HBA1 FGF17 SMO AHSG FLT4 GNAO1 EXOSC2 KREMEN1 RPS24 RPE65 DICER1 CDHR1 RPL18 MUSK CXorf56 ZDHHC9 SLC12A6 GABRD ZNF408 TRIP13 RAPSN ORC4 PDHA1 PARS2 RYR1 LRPPRC SP7 SMARCB1 CSGALNACT1 RNF135 CHSY1 MGAT2 CENPJ LZTFL1 ARSL DUSP6 TMEM70 DOCK6 MAPRE2 CNGB1 KIF15 MAPK8IP3 NOG BUB1 HYLS1 PLCB3 TBX6 SCAPER VPS13B TBCE NHEJ1 RP1L1 VPS51 DLG3 PNKP MAN2B1 EDN3 EDAR KDM5B PUM1 GPR101 SMAD4 RPL26 ZNF335 MED12L MMP2 BCL11B SMOC1 PPM1D USH1G COL27A1 IFT81 IMPG2 ROR2 CHST14 IRX5 KIF22 ECEL1 SH2B1 SPATA7 PRPF3 RPS17 RDH12 CCNK RNF125 EED CEP290 LAS1L BRPF1 FIG4 SLC1A4 SLC6A9 AP3B1 BBS5 CCDC88A MTHFR ACTG2 CLIC2 GNS GALNT2 FH IARS2 RAB39B MPDZ TUB MCOLN1 RHOA FGFRL1 G6PC3 RARS2 FAM161A RPS29 TBX4 TCOF1 TASP1 ADAMTS10 HK1 VARS1 EBF3 CITED2 ECE1 HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES COL10A1 KIF22 COMP B3GALT6 COL2A1 MMP13 SLC39A13 EIF2AK3 GNPAT COL9A1 GORAB CLCN7 CCN6 PAPSS2 TCIRG1 COL11A1 SOST TNFRSF11A ZBTB20 CHST3 SLC10A7 DMP1 TRAPPC2 SLC29A3 LOXL3 ENPP1 POLR3A FN1 EXOC6B ACP5 COL9A2 PDE4D NANS RNU4ATAC COL9A3 HP_ABNORMAL_SACRUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACRUM_MORPHOLOGY CLIP2 VANGL1 WNT7A FUZ HOXA13 DHPS MEOX1 YWHAE RMRP GDF3 NCAPG2 SHANK3 WNT5A EXTL3 LETM1 KMT2A USP9X NXN GDF6 B9D2 ARID1B TBXT KIF15 GREB1L KANSL1 CD96 FGFR2 LIG4 CCL2 CPLX1 KCNK9 ITGA8 COLEC10 SRD5A3 GTF2IRD1 APC2 RPS19 GTF2I TBX6 NSD2 SETBP1 ASXL1 CDK10 RPL10 FANCB CTCF FGFR3 RAB23 DMP1 PSMD12 ERF RFC2 HNRNPK TAF1 ANK1 FUCA1 PAM16 PAFAH1B1 B3GLCT NOTCH3 ROR2 RUNX2 DVL3 TBL2 NSUN2 OTUD6B SLC26A2 COL2A1 BMPER COX7B FGF20 AEBP1 CTBP1 ODC1 DEAF1 NDUFB11 MED12 HOXD13 SETD5 NELFA FGFRL1 NSD1 MNX1 RET PHEX TNFRSF1A DYRK1A MASP1 HAAO FAT4 TBX4 DVL1 BAZ1B LIMK1 SMC1A ELN LIFR SETD2 PDGFRB VANGL2 DCHS1 EBP TWIST2 RTTN LBR HCCS NADSYN1 ENPP1 ZIC3 FZD2 KIF22 PTH1R HLA-B FLNB TMCO1 SPOP POC1A HIC1 HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK TNFRSF11B MT-TL1 SLC26A2 RRM2B SOX4 HES7 DPF2 XYLT2 ARID2 SMARCE1 HOXD13 CHST3 EXTL3 ARID1B SMARCA4 LAGE3 ACP5 ANKH HGD OSGEP MESP2 COL2A1 TRPV4 SHOC2 ARID1A LTBP3 NUP133 RNU4ATAC WDR4 SMAD3 SOX11 LMNA PLCB3 SMARCD1 SMARCC2 MATN3 TPRKB TP53RK WDR73 LFNG RIPPLY2 PPP1CB MT-ATP8 SMARCB1 NUP107 DLL3 HP_ABNORMALITY_OF_THE_ACHILLES_TENDON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON PLEC ABHD12 FKRP ARL6IP1 COL6A2 TMEM43 NGLY1 LMNA KL HRAS PRKCG HGD PTRH2 ACTA1 POU3F4 HINT1 FKTN GJB1 EMD ALS2 SYNE2 TFG SGCA GAN POMT1 ZC4H2 BICD2 TTN SGCG NSUN2 LARGE1 FHL1 SYNE1 MT-TE KY OPA1 MYOT ADAT3 CRPPA HP_ABDOMINAL_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_AORTIC_ANEURYSM TGFB2 MFAP5 TGFBR1 LOX SMAD3 ELN MYH11 NSMCE2 MAT2A PTPN22 TGFB3 PRKG1 ACTA2 TGFBR2 FBN1 MYLK SMAD4 FOXE3 HP_AORTIC_ARCH_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ARCH_ANEURYSM BAZ1B CLIP2 LIMK1 KCNAB2 PRDM16 ELN LOX RFC2 TBL2 NKX2-5 GABRD SMAD6 GTF2IRD1 GATA5 SEMA3E GTF2I SKI KCNH1 CHD7 RERE NOTCH1 HP_SUPRAVENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_ARRHYTHMIA SCN1B RYR2 TNNT2 SCN5A NKX2-5 TLL1 LMNA TMEM43 KCND3 TBX5 GPD1L CAVIN1 NAA10 SCN2B TBX20 DNMT3A MYPN RRM2B ACTC1 FLAD1 GATAD1 SEMA3A TTN SLC19A2 CACNB2 MYH6 PLN CITED2 APRT TWNK CDH23 KCNQ1 SCN10A NUP155 AKAP9 CASQ2 NPPA GJA5 KCNE2 MFAP5 CACNA1C EMD MYL2 ANK2 GATA6 KCNE3 DES FHL1 HCN4 CRELD1 SMAD3 SCN3B KCNJ8 SGO1 GATA5 ABCC9 RYR1 PRKAG2 MYOZ2 CLIC2 POLG DMPK ACTN2 XK KCNA5 FLNC TNNI3 COL4A1 PKP2 CIZ1 SCN4B TRDN CACNA1S NEXN MT-ATP6 TAB2 POLG2 BMP2 TNNC1 GATA4 MYH7 SYNE2 KIF20A DTNA CSRP3 TNNI3K SLMAP NR2F2 KCNJ5 SCNN1A RANGRF KCNJ2 CACNA2D1 TRPM4 MT-CYB SYNE1 KCNE5 KCNH2 MYL4 SLC25A4 HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE ECE1 PTGIS AGT CORIN CYP3A5 STOX1 KCNMB1 AGTR1 FLT1 GNB3 NOS3 ADD1 HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY ABL1 STAT1 KDM1A KDM6A CLIP2 GATA4 UBR1 BUB1B NODAL TRIP4 STAG2 MED12 EVC STRADA RSPH4A FBN2 TBX1 BRCA1 FGFR1 LMNA BCOR TTC37 FANCI TSR2 SPATA5 MEIS2 CHST14 RPS17 CCDC22 NOTCH2 MED13L MYH6 ACTC1 TNNI3 SLC19A2 MLXIPL CITED2 CCDC114 COL1A1 KANSL1 AGGF1 MAGEL2 NPHP3 CPLX1 GDF1 HDAC8 SEC24C NSD1 COX7B CCDC103 CACNA1D ATP6V1A PLD1 RPS19 GTF2I NSD2 DHCR7 ASXL1 NDUFB11 FANCM EPHB4 CCNO ADA2 DSE THOC6 RNU4ATAC WT1 WDR37 LRRC6 EP300 GLI1 NEK10 FOXF1 CCDC65 B3GLCT SRCAP TBL2 OTUD6B RSPH1 GAS2L2 GAS8 AUTS2 SNX14 ROBO4 XRCC2 GP1BB SPECC1L SMC1A NELFA DNAL1 POR TXNL4A DNAH9 MAP3K7 GPX4 NKX2-1 SALL4 CREBBP UPF3B CARS1 MASP1 GPC6 NF1 HAAO BRAF SKIV2L DNAI2 HRAS SETBP1 VAC14 SHMT2 LIMK1 WASHC5 RELN DNAAF1 MYH7 SALL1 KIF20A HSPG2 DNAH1 GJA1 UBE2A COL1A2 NR2F2 ATIC EXT2 EFTUD2 NFIX RPS15A OFD1 RAD51 YY1 DVL3 SMC3 DNAAF3 DPH1 LARP7 HCCS TNNT2 IGF1R TKT DNAAF5 MAP2K1 NOTCH1 NCAPG2 TBX5 PIGA LETM1 TBX20 DNMT3A TMEM94 FANCD2 COMT MYPN MKKS CDK8 RPL11 CDC45 GPC4 MED25 TGFBR1 CRKL BUB3 PKDCC FLCN B3GAT3 PIEZO1 PQBP1 RPL10 PIK3R2 CTCF RPL27 SPEF2 RAB23 RIT1 RPS10 MAPK1 CRELD1 DYNC2LI1 TRAIP ERCC4 RSPH9 NONO DNAAF2 GNPTAB EVC2 SIK3 LTBP4 RBM10 AMMECR1 TMEM260 KAT6A TTC25 FLNC ARHGAP31 GATA6 SLC25A24 BMP2 RPS24 ALG12 ARMC4 KAT6B RPS28 FANCC NKX2-5 SMARCE1 ATP6V1E1 METTL5 RPL18 ZDHHC9 TGFB3 TLL1 ELN B3GALT6 TRIP13 STRA6 HNRNPK UBE2T RPL5 WDR35 MAD2L2 GNB5 PTEN CCDC39 DNAI1 RAD21 ASXL2 FBXW11 TSFM CSGALNACT1 PACS1 NFE2L2 TMCO1 VPS33B NME8 HSPA9 KRAS STK4 RPGR GLI3 UMPS C2CD3 TALDO1 KIAA0586 CCDC151 SH2B1 NAA10 COG6 USP9X UFD1 ARID1B KIF15 SLX4 AMER1 VPS33A KAT8 RAI1 BUB1 FANCB TBC1D24 ACADVL ADK MEGF8 BMPR1A ZEB2 GTF2IRD1 ZMYND10 DNAAF6 RREB1 SCN1B ZMPSTE24 SCN5A ESCO2 CFAP298 TRRAP RPL35 RPL15 RFC2 PALB2 RPL31 ANK1 HIRA FLNB STK36 SEMA3E XYLT2 EOGT TGFBR2 DNAAF4 NKAP GPC3 BCR PKD1L1 PIGN KDM5B SNRPN MRAS ASCC1 COL11A1 SMAD4 GATA1 SETD5 DNAH11 RPL26 CHD7 SON CEP290 PTPN11 KMT2D INSR RAD51C ABCD4 TGDS BBS2 POLA1 SHOC2 MMP21 SETD2 CDK13 FANCE CHST3 GYS1 PHGDH TBX2 CTU2 ZIC3 FOXJ1 IRX5 CFC1 JMJD1C TBX22 DLK1 CHD4 MAP2K2 CHRM3 SPAG1 RAC1 CFAP300 DNAH5 RSPRY1 MYOCD MYRF PIGT NEK9 NXN CCDC40 HYDIN MMP2 FOXC1 CACNA1C RAF1 PCNT BRIP1 JAG1 DDX6 SLC29A3 LRRC56 ARID2 PIGO FIG4 APC2 CFAP221 PAX3 CDK10 NIPBL FGFR2 RPL35A MEG3 CCBE1 RPS7 KMT2A DRC1 RTL1 LONP1 GATA5 CEP57 RERE KIF11 MTX2 PPP1CB ADAT3 FANCF PEX19 SMN1 MMP14 PRKACB PPP2R5D PCGF2 TTC12 NEK1 CTBP1 SNRPB ARVCF BRCA2 DACT1 ROR2 FGFRL1 G6PC3 RPS26 SETD1A AFF4 RPS29 TBX4 BAZ1B RARB TASP1 FANCL PTF1A SYT1 FGFR3 RFWD3 DNAJB13 MCIDAS FANCG FANCA RPS27 FKTN RSPH3 MYL3 STAMBP RBM8A UBE3B ECE1 HP_RIGHT_VENTRICULAR_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_DILATATION TLL1 CDH2 TBX20 GATA6 SGCG TRAPPC11 GATA4 ACTC1 NKX2-5 CITED2 MYH6 HP_ABNORMAL_T_WAVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_WAVE KCNE1 BRF1 GYG1 TRDN SLC12A3 SCN5A CALM3 KCNE2 NOS1AP CACNA1C DCAF17 SCN4B KCNH2 KCNQ1 MECP2 CAV3 SNTA1 CLCNKB MYL2 JUP AKAP9 CALM2 MYL3 CALM1 SCN10A KCNJ5 ANK2 HP_VENTRICULAR_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_SEPTAL_HYPERTROPHY GLA BSCL2 MYPN MYL2 SYNE1 GYG1 MYBPC3 MTFMT HP_CORONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_STENOSIS ELN MLXIPL ABCA1 DYRK1B YY1AP1 HP_CARDIAC_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_VALVE_CALCIFICATION IFIH1 NKX2-5 SMAD6 LMNA ZMPSTE24 HGD GBA GATA5 FBN1 MTX2 NOTCH1 HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION TRPM4 SLC25A20 SCN1B MT-TL1 MMP14 RRM2B ACTN2 GJA1 CALM3 NKX2-5 LMNA GABRA3 TMEM43 KCND3 TBX20 ABCC9 SCN3B TTR SCN5A TBX5 SDHD GPD1L PKP2 SCN4B SCN2B CACNA1D SDHAF1 MYBPC3 MMP2 ACTC1 DES SEMA3A TTN SDHA MYH6 CITED2 AGXT EMD CACNB2 TLL1 ACADVL MTM1 HCN4 SCN10A SYNE2 AKAP9 GLA KCNJ18 PTPN11 GJA5 GPX4 KCNQ1 SLMAP RNASEH1 KCNJ5 BVES GATA6 SDHB KCNE3 SCNN1A FHL1 RANGRF GATA4 KCNJ2 KCNJ8 CACNA2D1 MT-ATP8 CACNA1S MT-CYB PRKAG2 SYNE1 CACNA1C KCNE5 KCNH2 DMPK HP_VENTRICULAR_ESCAPE_RHYTHM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ESCAPE_RHYTHM SYNE1 TMEM43 LMNA GJA5 FHL1 SCN5A GNB5 EMD SYNE2 HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY MT-ND4 MT-CO1 MT-ND5 DES MT-TW MT-ND6 MT-CO3 MT-TL1 MT-ND1 MT-TS2 TSFM MT-TF MT-TQ MT-CO2 CLN3 MT-TH HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN GDF1 CDC42 RPS15A MMP21 DHCR24 HP_SHORTENED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_PR_INTERVAL PRKAG2 CACNA1S MT-CYB GABRA3 KCNJ18 TRPM4 GAA HP_PREMATURE_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ARTERIOSCLEROSIS LDLRAP1 LDLR ABCG8 WRN APOB PCSK9 LMNA ABCG5 HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS LMNA ABCG8 LIPC PCSK9 ABCG5 ACTA2 ERCC6 APOE ABCA1 LDLRAP1 LDLR ERCC8 APOB CEP19 HP_PROLONGED_QTC_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_QTC_INTERVAL KCNE1 KCNQ1 TRDN SCN5A CALM3 SNTA1 KCNA5 KCNE2 NOS1AP CACNA1C TNNI3K SCN4B KCNH2 MECP2 CALM2 CALM1 CAV3 AKAP9 TANGO2 SCN10A KCNJ5 ANK2 SVIL HP_POLYARTICULAR_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYARTICULAR_ARTHROPATHY NOD2 IL2RB TNFAIP3 IL2RA DMP1 PADI4 PTPN2 NLRP1 STAT4 ENPP1 PTPN22 NFKBIL1 TNFRSF1A SLC22A4 IL10 CD247 MEFV CIITA NLRP3 IL36RN STAT3 ANKRD55 CD244 HP_HELICOBACTER_PYLORI_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HELICOBACTER_PYLORI_INFECTION CARMIL2 CORIN STOX1 FLT1 IFNGR1 HP_PANCREATIC_PSEUDOCYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_PSEUDOCYST PRSS1 SPINK1 CTRC CFTR PRSS2 HP_SECRETORY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECRETORY_DIARRHEA FOXP3 SPINT2 PLVAP SLC9A3 NLRC4 HP_PANCREATIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CALCIFICATION SPINK1 CFTR CASR PRSS1 ENPP1 CTRC PRSS2 CPA1 ABCC6 HP_IMPAIRED_MASTICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_MASTICATION ALS2 NECTIN1 IRF6 PPP2R5D GNAI3 LAMB2 GRIN1 TP63 PTPN22 IDS ADNP COLQ TUBB3 MSX1 C12orf65 KANSL1 LAMA2 FARS2 PYGM ADSS1 HP_BOWEL_DIVERTICULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWEL_DIVERTICULOSIS BAZ1B AKT1 CLIP2 LIMK1 RET ELN RFC2 TBL2 UBR1 MLH1 MSH2 ALDH18A1 COL5A1 GTF2IRD1 FBLN5 MLXIPL GTF2I EFEMP2 PTEN PKD1 PIK3CA HP_RECTAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_ABSCESS TTC7A CYBB RAC2 NCF2 ITGB2 NCF1 CYBA VANGL1 HP_ADENOMATOUS_COLONIC_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMATOUS_COLONIC_POLYPOSIS BMPR1A GREM1 SMAD4 APC POLE AXIN2 ENG NTHL1 MUTYH MSH3 PTEN RNF43 POLD1 PMS2 HP_JEJUNAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JEJUNAL_ATRESIA MIR17HG PPP1R12A MYCN CENPF RFX6 HP_GASTROINTESTINAL_INFARCTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFARCTIONS STK11 HLA-B MEFV MLX COL3A1 JAK2 IL12B TEK PTPN22 F5 HP_INTESTINAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_HYPOPLASIA ZMPSTE24 RAPSN MYH11 MYLK SLC18A3 NUP88 SOX10 DOK7 CLMP MYOD1 FLNA ACTG2 GATA6 MUSK LMNA GUCY2C LMOD1 HP_THORACIC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_HYPOPLASIA WDR35 IFT43 SBDS PUF60 HHAT COL11A1 ATP7A EVC XYLT1 IFT122 FLNB RMRP KLHL41 KIAA0586 LBR CEP120 SLC9A6 IFT140 SKI PIGN SLC26A2 MTOR TCIRG1 ASXL1 TPM3 MATN3 TNFSF11 FAM20C MEG3 DLG3 CFAP410 DLK1 PLCB3 AGRN RPS19 IFT172 NEB DONSON NEK9 GPX4 SEC23A DNAJC21 KCNJ8 COL11A2 DYNC2I1 FGFR2 ITGA3 WDR19 IFT80 GLI1 KYNU TTC21B DDR2 INPPL1 MIR140 ORC6 COL2A1 BMPER POR DYNC2H1 MUSK MYOD1 TPM2 DYNC2I2 CTSK IHH TRPV4 DYNC2LI1 FAT4 LMOD3 GAD1 CCBE1 PTH1R IFT81 MBTPS2 FGFR3 HSPG2 TMCO1 NEPRO CHST3 CCDC47 FBN1 CFL2 NAA10 INTU CASR SOX9 IFT52 SNX10 CRTAP RTL1 FLNA TAPT1 ADAMTS3 TRPV6 PCNT ABCC9 UBA1 BCOR CILK1 RUNX2 B3GAT3 UPF3B SRP54 ZC4H2 TRIP11 KBTBD13 ZBTB20 PAM16 LMNA ACTG2 GBA GNPTAB EVC2 HSD17B4 PRKACB CLCN7 PCGF2 CANT1 ACTA1 NEK1 SNRPB MESD KAT6A SERPINH1 B4GALT7 CSPP1 SLC35D1 MYPN DCHS1 SLC10A7 GNE DYNLT2B KLHL7 PIK3C2A HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA MYMK ALX1 TBX5 ALX3 REV3L PLXND1 TBX3 SALL4 HP_JOINT_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HEMORRHAGE F2 PLAU F7 VWF SERPINF2 MCFD2 F9 F8 F10 SERPINE1 WAS GGCX LMAN1 F11 F5 F13A1 F13B HP_ABNORMALITY_OF_THE_SYNOVIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SYNOVIA NOD2 KDM6A NODAL NFIX PUF60 GPHN FBLN1 COL5A2 ATP7A EVC AP4M1 XYLT1 COL6A1 SF3B4 WNT5A BRCA1 BICD2 DISP1 TPM2 ACTA1 GLRB PIEZO2 GMPPB GLB1 SIX3 MAP3K20 PPP2R5D B3GALT6 CPLX1 COL12A1 KIF22 OCRL HDAC8 GLI3 SLC12A2 ATP6V1A DYM NSD2 SLC35A3 DHCR7 NSDHL FANCM HFE COL1A2 FBLN5 COL10A1 COL2A1 RNU4ATAC MATN3 KIAA0586 SYT2 UFSP2 CLTCL1 SMC1A ALDH18A1 SHH TELO2 MIR140 DHODH ALG9 ITGA7 XRCC2 GLRA1 NGLY1 DSTYK SELENON SNAP25 COL6A3 MAP3K7 GPX4 PYCR2 FBN1 BRAF CDON VAC14 PTCH1 RPS15A DLL1 MBTPS2 GAS1 CCDC8 CHAT GATA1 CCDC47 KANSL1 AGRN HYAL1 ERCC1 SMARCAL1 SOX9 COL5A1 IFT52 FZD2 RAD51 SMC3 EFEMP2 ZIC2 SLC18A3 ADAMTS2 COMP VAMP1 POMT2 TDGF1 CHRNG FKBP10 HSPG2 MAP2K1 GNPTAB RBM8A TGIF1 EIF2AK3 COL13A1 EIF4A3 FANCD2 IFIH1 DYNC2H1 LETM1 FUT8 POMT1 WNT7A GPC4 CHRM3 LARGE1 GJA1 IL6ST SHROOM4 ENPP1 B3GAT3 AP4S1 RAB23 COL1A1 COLEC11 EXOSC3 FGF8 POLR3A EXOC6B LONP1 C12orf57 SMO ERCC4 AP4B1 SLC6A5 RYR1 AARS1 ATAD1 AKT1 EVC2 RECQL4 HOXA11 CANT1 MYL2 TRIP11 HACE1 AEBP1 PAFAH1B1 ABCC6 COL6A2 OSGEP OBSL1 SLC35A2 KAT6B FHL1 FANCC KMT2D GLI2 COL9A3 GORAB GEMIN4 DYNC2I1 FLNA SLC35D1 FGFR1 DDRGK1 CUL7 UBE2T ATP6V1E1 ATP6V0A2 MAD2L2 YWHAE PTH1R RAD21 INPPL1 PYCR1 CSGALNACT1 MYH8 FKRP LMNA SEC31A COLEC10 SERPINF1 CENPJ ZNF469 CEP120 CD96 EXTL3 APC USP9X F8 PIGL SLX4 NANS FANCB THRA DNAJC21 AP4E1 PTEN PALB2 PRG4 SMAD3 POLR1A FLNB GSC TGFBR2 GPC3 DDR2 LPIN2 ATR SLC26A2 FANCI TIMM22 EYA1 TNNT3 MYH3 SETD5 LRP4 STAG2 PTPN11 COG1 RAD51C PTRH2 DVL3 MMP2 SLC2A10 MCTP2 LMOD3 SLC5A7 SMOC1 THOC2 FGFR3 NEPRO FANCE CHST3 CFL2 DVL1 OFD1 MASP1 COL3A1 INPP5K FOXH1 ECEL1 CRTAP CHD4 GDF5 TBX15 SLC25A1 SIL1 IARS2 NEB BRIP1 PORCN MYH7 FIG4 BGN TPM3 SLC6A9 AP3B1 ZC4H2 NIPBL HACD1 KMT2A FGFR2 ZMPSTE24 WDR35 FANCF TBCD CTBP1 SNRPB BRCA2 VPS33A FGFRL1 RINT1 FLI1 COX8A GUSB TOR1A AFF4 CSPP1 SIX1 TBX4 MYO9A FANCL HK1 KLHL41 RFWD3 FANCG FANCA MYO18B TRAPPC12 TRPV4 ARSB PLOD1 ARNT2 MKKS UBE3B HP_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRITIS TTC37 RIPK1 FAS PRKCD LRBA RASGRP1 AIRE CARD8 FOXP3 CASP10 SKIV2L KRAS CDH1 IL1B IL1RN FASLG CTLA4 HP_ABNORMALITY_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GALLBLADDER ANK1 CLIP2 MST1 GYPC SMPD1 CYP7A1 ARSA TBX1 SEC23B SCNN1A BPGM SPTB SMAD4 NR1H4 GCGR RFX6 F5 LETM1 SPTA1 EPB42 HBB COMT GPC1 ABCB11 UFD1 GPI ABCG8 MED25 SEC24C UROS GBA PIEZO1 HK1 GTF2IRD1 GTF2I BLVRA NSD2 ENG PFKM RREB1 RFC2 CYP27A1 HIRA SCNN1G SCNN1B TPI1 FOXF1 GPR35 GDF2 PSAP PEX19 ABCB4 B3GLCT ALAS2 TBL2 ALDOA DMPK SLC4A1 GP1BB EPB41 ARVCF HOXD13 GATA6 FECH FUCA1 NELFA ACVRL1 SON JAK2 PKHD1 CNOT1 PKLR BAZ1B LIMK1 ATP8B1 ELN AIRE STK11 CCDC47 UQCRFS1 SC5D INTU SPECC1L DHCR7 PNPLA2 JMJD1C MECP2 KCNN4 TCF4 GNE HP_ABNORMAL_JEJUNUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JEJUNUM_MORPHOLOGY MIR17HG PPP1R12A TTC7A MYCN CENPF RFX6 HP_INTESTINAL_POLYP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_POLYP MLH3 BMPR1A APC POLE KEAP1 STK11 AXIN2 PIK3CA BUB1B SEC23B NTHL1 PDGFRA RNF43 FLCN CDKN2A SMAD4 PTEN POLD1 PMS1 TGFBR2 PMS2 KRAS ACVRL1 NRTN SDHD SUFU EDNRB AKT1 CHEK2 BUB1 SEMA3D SDHB MTOR GREM1 ECE1 BUB3 FAN1 DICER1 TRIP13 USF3 GDNF ENG EDN3 SEMA3C KLLN MSH6 RET TP53 CTNNB1 GNAS MDM2 MUTYH MSH3 CEP57 PTCH1 MSH2 MLH1 PTCH2 SDHC GDF2 EPCAM HP_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_ABORTION FGA JAK2 ENPP1 ENG DNM2 FGB XIST HOXA13 FGG F2 ABCC6 MEG3 MYF6 ALB MTMR14 SYCP3 MGP ANXA5 SERPINE1 RYR1 BIN1 MPL THPO RTL1 GPHN HTR1A SERPINC1 DLK1 F13A1 F5 F13B C11orf80 WRN HP_PROMINENT_NASOLABIAL_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASOLABIAL_FOLD MYBPC1 DSE TOR1A ATP6V0A2 ATP6V1E1 USP9X FOXP1 ATP6V1A NF1 TNNI2 CHST14 HP_PROMINENT_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_TIP PRKACB KCNJ6 PCGF2 AUTS2 FLCN PIGY ZEB2 WDR26 MADD SYT1 PDE4D CHRNA7 CSGALNACT1 MED25 OBSL1 HP_DEPRESSED_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_BRIDGE WDR35 CDH11 SOX4 HES7 FOXL2 SMPD4 ADGRG6 XYLT1 WNT5A ATRX SCYL2 KIAA1109 RMRP FGFR3 DMD ARID2 GDI1 ACOX1 TSR2 MGP SPATA5 KCNA1 CCDC22 MTOR MED13L GPC6 TUBB MLXIPL SLC35C1 PEX6 PREPL CREBBP PIGQ POGZ FGFR1 ZBTB24 FGFR2 LIG4 B3GALT6 SIK1 FBXW11 PEX2 FAM20C PIK3R2 HDAC8 ARL3 ARHGEF6 MEG3 CDKN1C ARID1A GTPBP2 KCTD1 DHCR7 ADA2 PPM1B ACTL6A KIAA0586 TAF1 GNAS ALG3 SEMA3E PDE4D KYNU COL11A1 RAB3GAP1 AGA RPS23 KCNH1 SLC3A1 FRAS1 MIR140 TP63 FBN1 DOCK3 ALG9 BMPER GPC3 PEX5 TRIM37 DEAF1 SNX14 PEX26 PIK3CA UPF3B SLC25A22 WDR11 PEX13 SMC1A SETD5 POR RIPK4 DYNC2H1 HELLS MAP3K7 GPX4 KCNE5 EYA1 DYNC2I2 IQSEC2 WDR26 DYNC2LI1 HRAS SETBP1 OBSL1 NBN WASHC5 SIM1 SPECC1L CNTNAP2 NUP88 SCN1B NTNG1 TCF20 BRAF SEPTIN9 UBE2A INTU LINS1 CBL COL18A1 PURA SMARCAL1 NFIX GMNN LBR SOX9 PEX3 IFT52 FZD2 RPS15A SUFU DNMT3B CRIPT PROK2 CDKL5 DVL3 SMC3 PEX14 DPH1 CCND2 ADAMTS2 ZIC2 SMARCA4 PAX3 SPRY4 MN1 MAF GNPTAB DPF2 GPC4 SIN3A GLUL MRPS14 PIGA PAK3 FAT4 ACAN KMT2E TMEM94 RHOBTB2 COG8 FLNA MESP2 MARS2 RPL11 MECP2 SMG9 TONSL RPS19 FDFT1 CD96 KAT6B ETFDH GLIS3 SHROOM4 DIS3L2 TMEM107 RUNX2 EIF2AK3 KISS1R B3GAT3 PEPD AGTR2 PEX7 VANGL2 PIGL HECW2 HOXB1 ALX4 SOS1 SMARCD1 SCN2A PEX10 TWIST2 RAB23 RPS10 CNKSR2 KCNAB2 ERF MAP2K1 TAC3 RIPPLY2 DMXL2 LONP1 FGF17 B3GLCT SMO GLI2 ANTXR1 GBA TFAP2B AIFM1 TACR3 AKT1 GNRHR DLL3 HSD17B4 GNAO1 IDUA NSUN2 AMMECR1 CANT1 ZNF41 PIGY COL1A2 KREMEN1 AKT3 SLC25A24 BMP2 RPS24 TGIF1 DICER1 SLC9A7 DVL1 RPS28 FRMPD4 SMARCE1 PSMD12 TRPV4 MDH1 RALGAPA1 MED12 RPL18 MUSK CXorf56 DLK1 PRKAR1A DYNC2I1 TRIP11 PIK3C2A NF1 PIGG GABRD SLC39A13 SPOP EDARADD FREM2 IFT80 PRMT7 DDRGK1 STXBP1 CUL7 NRAS ANOS1 SOST SMARCC2 RPL5 WAC LTBP3 PIGT ANKH UGP2 FTSJ1 SP7 KNSTRN PTEN HCFC1 WDFY3 RAD21 INPPL1 SMARCB1 KIF11 CSGALNACT1 RERE RTL1 PEX11B RPS6KA3 DOK7 COL2A1 FOXG1 TSHB ARSL FLNB ACSL4 SUMF1 DUSP6 SH3PXD2B SIX2 MYMK EXTL3 NAA10 USP9X DOCK6 MYT1L FLII ARID1B MAPRE2 TRMT1 ACTL6B RAF1 KAT8 RAI1 RAB3GAP2 NSMF FOXC1 MEGF8 MED13 BMPR1A ETFB PLCB3 ZSWIM6 PROKR2 TBCE TANC2 TRRAP COL11A2 RPL35 RPL15 RPL31 TRIP12 ANK1 ZBTB18 AHDC1 DLG3 PNKP EZH2 DDR2 MAN2B1 PMM2 SLC26A2 PIGN PIK3CD EDAR NRXN1 DDX6 RSPRY1 MRAS LRP2 CAMKMT NSMCE3 GATA1 MEF2C RPL26 PSAT1 TMEM216 KDM6B SON MED12L CNOT1 HYAL1 FANCL NAGA CDH2 SKI POLE SMOC1 SNAP29 GAD1 CCBE1 PTH1R MYOD1 EEF1A2 ADAT3 IFT81 NEPRO CHST3 CHD7 NEUROD2 TBX2 SHH ROR2 GRIP1 CTU2 AGL KIF22 CDCA7 DHCR24 STAG2 NPR2 ZMIZ1 MAP2K2 UQCC2 RPL27 ETFA ADAMTS3 NIPBL PEX12 SCARF2 PITX2 CRLF1 ZNF81 TWIST1 SRD5A3 KRAS SHOX STX16 FGF8 HDAC4 NXN PIGP PEX19 RPS17 CACNA1C CUL4B SYP TRIM8 EFEMP2 EED JAG1 HBB MID2 P4HTM SOX11 BUB1B SVBP EDA LARP7 TOE1 ZNF711 POU1F1 SLC1A4 SLC6A9 CDK10 RPL35A PRDM16 SOX5 RPS7 KMT2A SLC45A1 TFAP2A PEX16 MTHFR PAM16 MTX2 CEP57 CLCN4 CLIC2 ALG13 FAR1 RAPSN GNS GNPAT HS6ST1 RLIM FH IARS2 ALDH6A1 HUWE1 GLI3 PTCHD1 BPTF KLHL7 PAX1 TSPAN7 RAB39B MADD RPS26 WDR4 ELN ADNP CASK USP27X ARX ABCC9 RPS29 PLOD1 TALDO1 CSPP1 TBX4 BCORL1 METTL23 EP300 SLC18A3 PRKD1 ADAMTS10 GJA1 TRIO IL1RAPL1 PEX1 GNRH1 VARS1 LFNG COL1A1 PIGU RPS27 PCLO GATAD2B TRAPPC4 ARSB KISS1 DPM1 UBE3B HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION MYBPC1 ATP6V0A2 ATP6V1E1 USP9X FOXP1 ATP6V1A NF1 SNRPN CHST14 MAN1B1 DSE TOR1A TNNI2 HP_VENOUS_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_INSUFFICIENCY SLC29A3 SMAD3 SEC24C ENG SLC12A3 TBX1 VEGFC GBA ATP7A GJC2 PTEN VHL PROC PIEZO1 AEBP1 EPHB4 GP1BB RASA1 PIK3CA ARVCF RREB1 NDP CLCNKB NOTCH3 GNAQ COMT G6PC3 COL3A1 FLT4 SMOC1 UFD1 FOXC2 HIRA FIBP JMJD1C KIF5A PROS1 AGGF1 HP_ARTERIAL_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_DISSECTION COL5A2 COL3A1 COL1A1 COL5A1 PLOD1 SMAD3 TGFBR1 TGFBR2 HP_CEREBRAL_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VENOUS_THROMBOSIS MTHFR PDE4D HABP2 SERPINC1 F13A1 PROS1 F2 PRKAR1A PROC PGM1 HP_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_HEMANGIOMA CCND1 PUF60 GLI3 TBC1D24 VHL FLT4 MGAT2 RECQL4 EIF2AK4 DHCR7 PTEN EP300 DVL1 WNT5A SEC23A OFD1 ARL6IP6 RASA1 EXTL3 ESCO2 KDR GNAQ FZD2 CREBBP FGFR1 ANTXR1 DVL3 SRD5A3 KRAS CD96 AKT1 DIS3L2 HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE TBX20 CAV1 GATA6 GATA4 KCNK3 ACTC1 NKX2-5 CITED2 SMAD9 MYH6 BMPR2 TLL1 HP_DISTURBANCE_OF_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTURBANCE_OF_FACIAL_EXPRESSION ATXN8OS NECTIN1 IRF6 STXBP1 MECP2 GLI3 MTMR14 PCDH19 SCN1A GABRA1 MSX1 CREBBP EP300 SCN2A CACNA1A PNKD KCNQ2 PMP22 PRRT2 TP63 SCN1B GATAD2B DNM2 PANK2 KCNQ3 CP ATP1A2 GABRG2 SCN9A HP_PROGEROID_FACIAL_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGEROID_FACIAL_APPEARANCE RNF113A KCNJ6 ERCC6 B4GALT7 PSMB8 LMNA ERCC3 ERCC4 GORAB ERCC8 LMNB2 WRN POLR3A ELN MTX2 ZMPSTE24 STUB1 ERCC1 HP_SPARSE_LATERAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_LATERAL_EYEBROW NECTIN1 NSUN2 TBX3 EDARADD KRT71 TRPS1 KDM6A PQBP1 PURA MESD TWIST2 KRT25 LIPH LPAR6 HNRNPK IRX5 WDR26 KMT2D KRT74 PIGK COG6 LIG4 HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM C5 SLC7A7 C7 C6 CFB CFP DNASE1L3 C4B C1QB LMNA C8B SPP1 PRKCD CFH LMNB2 GALK1 C1QC STAT4 C4A C1QA CFI CFHR1 MASP2 IRAK1 C3 C1S C8A CFD C9 PACS1 CFHR3 HP_SPASTIC_HYPERACTIVE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_HYPERACTIVE_BLADDER KIF5A PLP1 DARS2 GBA VPS35 GIGYF2 DNAJC13 SNCA LRRK2 EIF4G1 HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY STAT1 CLIP2 TBL2 MAT2A PCSK9 FANCI TGFBR2 AEBP1 XRCC2 MYH11 PRKG1 BRCA1 BRCA2 ABCG5 ATP7A SON FANCD2 FANCC RAD51C ACTA2 SLX4 COL3A1 NF1 LDLRAP1 LDLR SLC2A10 BRIP1 SMAD4 FANCB PPARG BAZ1B LIMK1 MFAP5 TGFBR1 ELN LOX ABCG8 FANCL HOXA1 GTF2IRD1 FANCE GTF2I SMAD3 FANCM UBE2T NDE1 RFWD3 FANCG FOXE3 TGFB2 FANCA ABCA1 RFC2 PALB2 MAD2L2 ZMPSTE24 TGFB3 ERCC4 RAD51 APOB YY1AP1 FBN1 MYLK FANCF LMNA HP_ABNORMAL_VENA_CAVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY NME8 SPAG1 RBM10 SRCAP PRKACB RSPH1 TMEM260 GAS2L2 RPGR TTC12 GAS8 CFAP300 DNAH5 TTC25 RSPH4A DNAAF5 PRKCD CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN CCDC114 FADD MED25 RAI1 DNAI2 KDM3B SLC29A3 LRRC56 MMP21 DNAAF1 CCDC103 DNAH1 ZMYND10 UQCRFS1 CFAP221 CCNO UBE2A DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 LRRC6 DRC1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 HP_ABNORMAL_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_EXPRESSION CCDC174 ATP6AP2 PIEZO2 EIF2AK2 GLI3 SLC6A8 DMXL2 DNMT3B GMPPB KLHL41 MAPT DNAJC6 SLC6A3 HSPG2 SMCHD1 PODXL PABPN1 FTL PDGFRB REV3L PMP22 NR4A2 TRIM32 KDM6A GBA UBA1 VPS35 ASXL3 DNAJC13 STAC3 RRM2B RYR1 ATP13A2 SLC30A10 PANK2 GLUD2 JAM2 MYH7 GABRG2 TWNK UBA5 ITPR1 PAX6 PLAA TECPR2 FKTN MYL1 MTMR14 POLG ATXN2 RTL1 TPM3 HLA-DQB1 ATP6V1A SCN1A SLC52A3 HOXB1 CREBBP SLC6A9 PDGFB ADH1C MSTO1 HPSE2 PURA GFM2 TP63 SNCA NEB FRG1 EP300 DNA2 SCN1B TANGO2 CC2D1A KCNH1 TAZ SLC20A2 DLK1 KCNQ3 ATXN8OS BCL11B SPTBN4 TK2 KCNJ6 PIK3CD PLXND1 DCTN1 PCDH19 LRP12 TBP MSX1 MYH3 CACNA1A MEG3 PLA2G6 PRNP ATP7A SGCB TXNL4A FA2H MYH2 FBXO7 KMT2D DPM2 UBE3A DNM2 VAMP1 GLE1 POLG2 ATP1A2 FMR1 SLC18A2 NECTIN1 IRF6 STXBP1 MECP2 GIGYF2 MTM1 EIF4G1 SLC39A14 GABRA1 DUX4 SPR TH LAMA2 SCN2A PNKD KCNQ2 TPM2 ATP1A3 PRRT2 SNCAIP SYNJ1 KCNK9 KNSTRN LRRK2 CERT1 ACTA1 EBF3 GATAD2B CP MRE11 SLC25A4 SCN9A HP_INSPIRATORY_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSPIRATORY_STRIDOR MIR140 IGHMBP2 SCN4A D2HGDH SLC52A3 SERPING1 PLP1 HP_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS NEK1 GLI3 SETBP1 SF3B4 PRRX1 HP_RECURRENT_HERPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HERPES MBL2 STAT1 CD3E IL2RG RFXAP CD247 CASP8 CD3D BLM RFXANK UNC93B1 RFX5 UNC119 CIITA HP_LACK_OF_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_T_CELL_FUNCTION JAK3 AK2 RFXANK RFXAP ADA RFX5 CIITA HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I C1QA CFI CFHR1 CFH CFHR3 C1QB C1QC HP_SEVERE_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_B_LYMPHOCYTOPENIA ADA NFKB2 RAG1 DCLRE1C RAG2 HP_ABNORMALITY_OF_HUMORAL_IMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY CLCA4 CR2 CD28 IFIH1 CASP8 POMP RNF113A CXCR4 IL6R IL2RG TONSL SPP1 CD19 DCTN4 JAK3 CD79A SETX RMRP GBA HLA-DRB1 CAVIN1 SFTPA2 ICOS MS4A1 CTLA4 TTC37 EXTL3 SPINK5 RAG2 FAS COG6 CFI CARD9 TCF3 NCKAP1L PIK3R1 CCND1 MTOR MUC5B RASGRP1 DCLRE1C LRRC8A SLC35C1 VPS33A IL21 RAG1 ZBTB24 PIK3CD RIPK1 PGM3 PSTPIP1 TFRC GTF2E2 TNFSF12 PSMB8 SP110 OTULIN CD3D CD81 IRF2BP2 CD55 DOCK8 TGFB1 MS4A2 SLC25A13 LMNB2 DNMT3B C1QC NFKB1 CD79B NHEJ1 PRKCD CNBP BACH2 XIAP STAT3 IGHM FLNA KRT18 GPC3 SLC7A7 IL7R PMM2 C7 EPG5 IRAK4 IVNS1ABP ATP6AP1 NFKB2 STXBP2 PLA2G7 MYD88 CASP10 CFH NSMCE3 LIG4 RFX5 POU2AF1 BTK CD3E SON IKBKB HELLS MASP2 CD70 C1S TCN2 CFTR SKIV2L C9 CTPS1 STAT5B CIITA FASLG KLHDC8B CFB NLRP1 TNFSF15 CCBE1 MPLKIP ZAP70 DNASE1L3 KRAS IL4R PSMB9 IGLL1 STAT4 KRT1 C4A ALB SMARCAL1 ADAM17 IRAK1 NTRK1 C3 RAC2 MVK CDCA7 BLM RNF168 CFHR3 MST1 IL12A ITCH MTHFD1 RFXAP TNFRSF13C MAGT1 NBN ADAMTS3 VPS45 C1QB ATM ERCC3 PIGT IL2RB RFXANK C1QA CARMIL2 SPIB CFHR1 KRT8 MYSM1 STX1A TP53 MMEL1 ERCC2 IKBKG GPC4 ADA BLNK NRAS C6 IL6ST ELANE B2M PSMB4 CDSN ZEB2 MOGS CD247 SLC46A1 HYOU1 COL1A1 SLC5A6 ATP6AP2 GALK1 TNFRSF11A TNFRSF1B LRBA SH2D1A IL2RA WAS IKZF1 CFD PEPD TARS1 CISD2 IGKC GPR35 IL12RB1 UNG GTF2H5 MAN2B1 C4B TNFRSF13B FOXP3 LMNA COL7A1 C8B PTEN ALG12 RNU4ATAC CD27 KRT9 FAT4 LAT AK2 AICDA ADA2 CD40LG TERT TYK2 BCL10 C5 CARD11 CD40 TRNT1 RTEL1 IRF5 TNPO3 LAMTOR2 CFP MSN TIMM8A SCARB2 STING1 SH3KBP1 PLVAP KNSTRN IFNGR1 C8A CSNK2A1 SAMD9L PLCG2 SFTPC TCF4 PACS1 NFE2L2 RBM8A ITK HP_CELLULAR_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULAR_IMMUNODEFICIENCY FOXN1 USB1 SDHB CDCA7 TINF2 EPG5 NPM1 NOP10 CREBBP USF3 TERC DNMT3B PTEN TBCE CTC1 KLLN SDHD ATM WRAP53 PARN RTEL1 RMRP AK2 ACP5 NHP2 SMARCAL1 EP300 AKT1 SDHC SEC23B DKC1 PIK3CA ZBTB24 FRAS1 HELLS TERT HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS SCNN1A CFI IL2RG CFTR RPGR SCNN1B SCNN1G HP_COMBINED_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMBINED_IMMUNODEFICIENCY CHD7 BCL11B XRCC4 MTHFD1 LIG4 DCLRE1C PIK3CD BUB1B PTPRC IL7R IL2RG AK2 RAG2 PNP JAK3 PRKDC PGM3 EXTL3 RAG1 TTC7A ACP5 KNSTRN RMRP ADA HP_RECURRENT_OPPORTUNISTIC_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS ZAP70 JAK3 PNP RAG1 IL2RG PTPRC ADA RAG2 IL7R DCLRE1C HP_REDUCTION_OF_NEUTROPHIL_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCTION_OF_NEUTROPHIL_MOTILITY SLC35C1 RAC2 EFL1 PMM2 SBDS DNAJC21 SRP54 HP_RECURRENT_CANDIDA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CANDIDA_INFECTIONS IL7R CD3E RFXAP CD247 ZAP70 BTD CD3D SLC39A4 DOCK8 RFXANK RFX5 CIITA HP_T_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_T_LYMPHOCYTOPENIA ZAP70 JAK3 IL7R RFXAP PIK3CD MAGT1 IVNS1ABP NBN ATM IL2RG LCK CASP10 NSMCE3 RFX5 EXTL3 LEP FAS FOXN1 RAC2 ACP5 WIPF1 ADA RAG1 CIITA CD247 PTPRC SP110 RASGRP1 MYC DOCK8 EPG5 CD8A PGM3 RAG2 CD3G NHEJ1 PRKCD LEPR IL2RA KNSTRN DNMT3B RFXANK IL7 ITK FASLG HP_INCREASED_B_CELL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_B_CELL_COUNT FAS PRKCD NCKAP1L CASP10 CARD11 RASGRP1 FASLG HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS LYST ZAP70 PSENEN NCF2 NCF1 CYBA BTK CTSC DOCK8 EGFR LAMA3 LAMB3 CYBB UBE2A PSEN1 CARMIL2 IL2RG IL17RA MYD88 GJB2 ADAM17 LAMC2 IL10RA GJB6 HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS ZAP70 EXTL3 CD3G IL7R CD8A IL2RG NSMCE3 WIPF1 HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B CFI CFHR1 CFB CFH CFHR3 HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS C5 MBL2 SCNN1A CFI C7 C6 IL2RG CFB RPGR SCNN1B SCNN1G NCF2 ITGB2 NCF1 CYBA C8B CFTR CYBB HP_DECREASED_SERUM_COMPLEMENT_C3 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_C3 STAT4 SPP1 CFI PRKCD LMNB2 CFHR1 CFH IRAK1 PACS1 CFHR3 C3 HP_RECURRENT_SINOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINOPULMONARY_INFECTIONS NME8 SPAG1 SRP54 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 PLCG2 CASP8 GFI1 DNAH5 TNFRSF13B TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 ATP6V0A2 STAT3 CCDC40 DNAH9 HYDIN DOCK8 CCDC114 DNAI2 NBN PIK3CD LRRC56 TFRC DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 NFKB1 CFAP298 LRRC6 DRC1 ELANE BACH2 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 TCIRG1 DNAAF4 DNAAF2 DNAAF3 HP_RECURRENT_NEISSERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_NEISSERIAL_INFECTIONS C5 MBL2 C8B CFI C7 C6 CFB HP_IMPAIRED_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_T_CELL_FUNCTION CR2 DGCR8 SEC24C CD3E UMPS TBX1 SLC39A4 AK2 CD19 TGFB1 DGCR6 GP1BB ESS2 ARVCF RREB1 ICOS TNFRSF13C COG6 TNFRSF13B COMT UFD1 RASGRP1 HIRA WIPF1 JMJD1C PNP MRTFA DGCR2 CTPS1 HP_ENLARGED_POSTERIOR_FOSSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_POSTERIOR_FOSSA SMARCA4 WDR35 FOXC1 FKTN RAC1 SOX4 BUB1B DOK7 NID1 EVC POMK C2CD3 TMEM216 TMEM67 DPF2 MKS1 AP1S2 ALDH18A1 ARID2 CEP120 PMM2 FGFR1 ZIC1 BCOR TMEM231 NPHP3 USP9X CRPPA PIGN RPGRIP1 CCDC22 ARID1B POLR3A TUBB ASXL1 LARGE1 SMG9 WDR73 COL4A1 RXYLT1 OFD1 GPC4 CEP55 BUB1 NRAS POLR2A PIEZO2 CC2D2A SOX11 TBC1D24 ACADVL NSD1 BUB3 TCTN2 IGF2 EBP SUFU WDR81 HYLS1 APC2 POGZ DHCR7 ARMC9 SMARCD1 SLC5A6 FKRP POMT2 B4GAT1 KIAA0586 TMEM138 B9D2 GLI3 KIF7 CEP57 SEMA3E POMT1 VPS51 B3GALNT2 PPP1CB B4GALT1 DYNC2I1 GPC3 B9D1 EVC2 PHGDH TMEM107 FAR1 BRF1 RAPSN ATP6V1A DPH1 DENND5A TMEM237 WASHC5 CDC42 CHD7 SMARCE1 PACS2 SLC35A2 WDPCP DYNC2H1 ATP6V0A2 CEP290 POMGNT1 CNOT3 CPT2 PLG COG1 PMPCA DYNC2I2 CDH2 RPGRIP1L CSPP1 ABCC9 HRAS ARID1A MUSK OPHN1 RNF113A SLC18A3 FLVCR2 SETD2 NUP88 MYOD1 IFT80 FLNB TRIP13 DAG1 KCNQ1 KCNQ1OT1 KRAS FTO SMARCC2 CDKN1C ATP6V1E1 POMGNT2 PIGU KLHL7 SMARCB1 PSAT1 MAB21L1 HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES SIX2 PDE4D AMER1 SFRP4 RUNX2 FUCA1 PRKAR1A SMCHD1 HP_CALCIFICATION_OF_FALX_CEREBRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_FALX_CEREBRI PTCH1 ABCC6 PTCH2 COL11A1 SUFU DDR2 HP_CRANIOFACIAL_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_OSTEOSCLEROSIS TBCE AMER1 TCIRG1 SLC39A14 CLCN7 ANKH KL PLEKHM1 SOST FAM111A TGFB1 HP_FACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPEROSTOSIS PTDSS1 GJA1 AMER1 SOST AKT1 HP_FLAT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_OCCIPUT PEX11B SATB2 UBE3B OTUD6B AMER1 SNRPN NRXN1 PEX5 MAN2B1 PEX26 PEX12 MAN1B1 ADSL PEX13 TMEM70 ZIC1 ERF TAF1 PEX14 PEX19 CYP27B1 RALGAPA1 PEX6 WDR73 EHMT1 MCTP2 VDR CYP2R1 METTL23 PEX2 OCRL CNTNAP2 SETD1B PTCH1 LEMD3 HK1 SH3PXD2B UBE3A PEX10 PEX1 PEX3 SLC35A1 OCA2 PEX16 SLC34A3 TUBB3 KIF11 RPS23 INPPL1 DPM1 HP_DECREASED_CALVARIAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CALVARIAL_OSSIFICATION ALPL WNT7A COL1A1 COL1A2 CRTAP PPIB FGFR2 INTU ZMPSTE24 LMNA HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY C2CD3 WDR35 NEK1 DYNC2H1 EIF4A3 GLI3 FOXE1 IFT80 DYNC2I2 SETBP1 SF3B4 SERPING1 DYNC2I1 PRRX1 ASAH1 HP_POSTNATAL_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTNATAL_MICROCEPHALY TREX1 TMEM165 HSPD1 GRIN2A MED17 PUF60 PCDH12 EIF2B1 SMPD4 FOXG1 ERCC6 NEXMIF ACO2 ATP6V0A2 MECP2 PIGA CHMP1A QARS1 EMC1 SLC39A14 EIF2B4 EXTL3 RNASEH2C SMC3 TBCD HNRNPH2 VPS53 CYFIP2 POMK TSEN15 CDC45 WWOX WDR73 TAF2 ZNHIT3 PAFAH1B1 ATP10A GPT2 NTNG1 CACNA1B UBA5 TBC1D20 PLAA PYCR2 RPL10 EFTUD2 GABRB2 FOXRED1 ACTG1 SEPSECS SLC1A4 AMPD2 ZEB2 PMPCB CREBBP PNPO ZSWIM6 UBE3A EIF2B5 VPS11 TSEN54 DHFR SNRPN EXOSC3 BRAT1 WDR37 MPC1 ACBD5 SLC25A19 DEGS1 CCDC88A EP300 SLC2A1 DCX NDUFS1 MFF CLP1 COG2 NTRK2 EEF1A2 SPTAN1 FAR1 ATP6V1A NDUFA11 JAM3 GLS TRAPPC9 CTNNA2 MFSD2A PPT1 HTRA2 TRAPPC2L IQSEC2 CDC42 CDKL5 ERCC8 NGLY1 ALG12 TBC1D24 TSEN2 GABBR2 EIF2B2 RUSC2 SCN8A RNASEH2A PLEKHG2 GABRA5 RARS2 COG1 DOLK SCN1A ASNS PUS3 PTRH2 DPM2 GOT2 MDH1 RAB3GAP2 TSEN34 PNKP TUBGCP2 TOE1 TRIO EIF2B3 CASK SNAP29 SLC18A2 RNF113A CNP SLC12A5 MICOS13 COG7 COQ9 PSAT1 STXBP1 FGF12 ATP6V1E1 PARS2 VARS1 COG8 OCA2 CERT1 CARS2 GRIA2 PCLO ARFGEF2 CLTC STAMBP PPP1R12A TRAPPC12 TRAPPC6B COG6 ARNT2 PLPBP DPM1 RAB18 HP_PROMINENT_METOPIC_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_METOPIC_RIDGE TWIST1 KDM5B PPP2R1A ADSL LMX1B STAT3 ABCC8 KCNJ11 FOXG1 HNRNPK CDC6 ERCC5 MAPK1 ASXL1 SMG9 INS PDX1 IGF2 NUP188 ZNF462 NOTCH3 GCK ERMARD ACTG1 INTU KCNQ1 KCNQ1OT1 KANSL1 ERCC6 SC5D PURA ADARB1 RTTN CDKN1C ACTB ERCC2 HNRNPU MAF TBCK KLHL7 STXBP1 ADAMTSL1 MAP1B SMARCD1 ERCC1 GNPTAB HP_REFRACTORY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REFRACTORY_ANEMIA BMPR1A GREM1 DDX41 CP TBXAS1 PTEN HP_CHRONIC_MYELOGENOUS_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MYELOGENOUS_LEUKEMIA BCR JAK2 MPL ASXL1 KIT THPO TET2 ABL1 SRSF2 HP_INCREASED_MEGAKARYOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEGAKARYOCYTE_COUNT SF3B1 TET2 MPL JAK2 TP53 CALR SH2B3 HP_INCREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_VOLUME KIF23 RPL11 SLC4A1 HBB PIEZO1 MMADHC CBLIF EFL1 ADA2 RPS24 DNAJC21 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 RPS7 RPS26 RPS28 RPL31 SBDS RPS27 RPS17 MTRR RPS15A ABCB6 KCNN4 RPS19 SAMD9L RPS29 RPL18 MDM4 ANKRD11 SRP54 RPL27 SAMD9 HP_DISSEMINATED_INTRAVASCULAR_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION CFH BCOR PRKAR1A NPM1 SERPIND1 FIP1L1 CFI STAT3 CD46 NUMA1 ZBTB16 HELLPAR TBL1XR1 PML RARA IRF2BP2 RASA1 NABP1 PROS1 NLRC4 STAT5B HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA FANCB PNPO FANCA FANCD2 PALB2 MAD2L2 FANCC FANCL FANCI RAD51C ERCC4 FANCE SLX4 RAD51 FANCM XRCC2 BRIP1 UBE2T RFWD3 BRCA1 BRCA2 FANCF FANCG HP_LYMPHOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOPROLIFERATIVE_DISORDER ZAP70 NRAS CD27 IL2RG LRBA MAGT1 CD70 KRAS ADA2 MYD88 PRKCD CTPS1 ITK MCM4 HP_SPONTANEOUS_HEMOLYTIC_CRISES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMOLYTIC_CRISES SLC4A1 SPTA1 EPB42 ANK1 SLC2A1 SPTB GPI HP_BONE_MARROW_HYPOCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPOCELLULARITY NBN TINF2 NOP10 DDX41 NPM1 ERCC6L2 ACD TERC CLCN7 CASP10 EFL1 FANCF IFNG PRF1 NHP2 VPS33A FANCI WRAP53 FAS TERT FLI1 MYSM1 CTC1 RTEL1 SBDS TET2 BRCA2 PARN ADA2 FANCL RPL26 SRP54 USB1 CLPB GNAS BRIP1 GATA2 FANCD2 RASGRP1 PIGA DNAJC21 SF3B1 TGFB1 PGM3 WDR19 ERCC4 MAD2L2 PRKCD LBR TBXAS1 RPS14 DKC1 IVD UBE2T SRP72 MDM4 ZCCHC8 FASLG SAMD9 HP_MYELOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPROLIFERATIVE_DISORDER SRSF2 BCR TET2 MPL GATA2 ASXL1 CALR CBL GATA1 RUNX1 PDGFRA PDGFRB JAK2 SH2B3 ABL1 HP_CHRONIC_LYMPHATIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LYMPHATIC_LEUKEMIA RNASEH2B ADAR PIK3R1 RNASEH2A TREX1 SAMHD1 RNASEH2C MEFV IFIH1 HP_ABNORMALITY_OF_THE_METOPIC_SUTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE TWIST1 KDM5B PPP2R1A ADSL FREM1 LMX1B STAT3 GLI3 SIX2 ABCC8 SON KCNJ11 FOXG1 HNRNPK CDK8 CDC6 ERCC5 MAPK1 ASXL1 SMG9 INS SETBP1 PDX1 IGF2 NUP188 ZNF462 NOTCH3 GCK ERMARD ACTG1 INTU KCNQ1 KCNQ1OT1 KANSL1 ERCC6 SC5D HERC1 PURA ADARB1 RTTN CDKN1C ACTB ERCC2 HNRNPU MAF WDR35 TBCK FGFR2 KLHL7 PTCH1 STXBP1 ADAMTSL1 MAP1B SMARCD1 ERCC1 GNPTAB HP_CHRONIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LEUKEMIA RNASEH2B ADAR JAK2 ASXL1 ABL1 RNASEH2A TREX1 WIPF1 TET2 SRSF2 SAMHD1 WAS RNASEH2C MPL THPO MEFV CBL BCR PIK3R1 KIT IFIH1 RUNX1 HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS HBA2 HBB HBA1 ATRX CD151 HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY SRP54 MMADHC NPM1 DDX41 SBDS HPGD GFI1 FANCE CXCR4 TERC ZBTB16 JAK2 FANCF TINF2 SLX4 GBA HLA-DRB1 FARSB STAT5B FANCI FAS COG6 TET2 STAT3 CTC1 RTEL1 PARN VPS33A RPL18 RAB27A TERT PRF1 GNAS ITCH BRIP1 TP53 SP110 UBA1 DNAJC21 PML GP9 DHFR ERCC4 RPS14 BCOR SRSF2 PRKCD CALR BACH2 MPL FANCC XIAP EVC LIG4 MRPS7 GLI1 TBL1XR1 GATA2 UBE2T GFI1B HAVCR2 SRP72 GP1BB NLRC4 RARA MAN2B1 SLC7A7 LPIN2 ATR PALB2 ASXL1 CCND1 SLCO2A1 ACD SLC35A1 IFNG CASP10 RFX5 RFWD3 CTLA4 NHP2 TCN2 FANCL CIITA MPIG6B XRCC4 ANAPC1 KRAS RASGRP1 SF3B1 TGFB1 LBR WRAP53 PCCA CBL GATA1 STN1 TNFRSF1B DKC1 TNFSF11 ZCCHC8 FASLG SAMD9 MTHFD1 RECQL4 NOP10 RFXAP CD28 FANCA COQ2 NABP1 NAXD MYSM1 BRCA2 MTRR RPL26 USB1 NRAS PRKAR1A MMAB GNA14 PSTPIP1 PIGA MYC GP1BA SAMD9L SLC46A1 LMBRD1 OSTM1 PGM3 LRBA SH2D1A DYNC2LI1 IKZF1 TBXAS1 RFXANK MDM4 HOXA11 NBN LYST MMAA ERCC6L2 CLCN7 TCIRG1 EFL1 CD27 RAC2 RNASEH2A ACP5 FLI1 NUMA1 ADA2 SRC TALDO1 RUNX1 CLPB FIP1L1 FANCD2 ALPK1 EVC2 SCARB2 WDR19 SH2B3 MAD2L2 ELANE ATM TNFRSF4 PCCB IVD NBEAL2 IRF2BP2 ITK HP_MULTIPLE_RENAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_RENAL_CYSTS BAZ1B CLIP2 LIMK1 SEC63 CCND1 ELN OCRL TBL2 SEC24C TBX1 DHX16 VHL SALL1 FLNB UMOD GTF2IRD1 STK11 GTF2I TSC1 TSC2 BMPER GP1BB PEX13 ARVCF RREB1 PMM2 COL4A1 DACT1 RFC2 COMT LRP5 UFD1 HIRA JMJD1C PRKCSH NOTCH2 HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION DZIP1L BSND DHX16 PKHD1 NIPBL HP_RENAL_MAGNESIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MAGNESIUM_WASTING FXYD2 IFT122 CLDN19 ATP1A1 KCNJ10 SLC12A3 CLDN16 HP_HEMOLYTIC_UREMIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_UREMIC_SYNDROME THBD CFHR1 MMACHC CD46 CFB MTRR DGKE C3 CFH CFI PRDX1 ADAMTS13 CFHR3 HP_DUPLICATION_OF_RENAL_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_RENAL_PELVIS GPC4 KCTD1 ZEB2 GPC3 SLC6A17 HP_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CELL_CARCINOMA SDHD TSC1 NOD2 MCC KEAP1 CCND1 HNF1B MAX PDGFRL FLCN AXIN2 AURKA MDH2 SDHB RET DCC RNF139 AKT1 TP53 CTNNB1 FOXE1 LMNA TSC2 MINPP1 VHL FN1 BAX SEC23B COL14A1 SDHC MLH3 PTPRJ PIK3CA DLST HABP2 BUB1 TMEM127 SDHA HNF1A IFNG TFE3 FGFR3 DICER1 BAP1 PRCC SLC25A11 SDHAF2 MET SRC FH STK11 DLC1 NF1 USF3 PTEN PLA2G2A RAD54B KLLN APC AAGAB BUB1B TLR2 PTPN12 EP300 CDC73 OGG1 HNF4A KIF1B NRAS HP_SPOTTY_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPERPIGMENTATION FERMT1 CRIPT LYST BANF1 BLM SRD5A3 HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS UROD OCA2 HFE MC1R HPS1 POLH DSTYK HP_PATCHY_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_PALMOPLANTAR_KERATODERMA GJB3 GJA1 GJB4 DSP KDSR HP_SPOTTY_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPOPIGMENTATION FERMT1 ABCB6 CRIPT UBE2A EBP BLM HP_GENERALIZED_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERKERATOSIS PTEN ZMPSTE24 SDHB KLLN GJB3 SDHD GJB2 KRT14 KRT5 AKT1 SDHC SEC23B USF3 LMNA PIK3CA GJB6 FUCA1 HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS MEN1 GNAS CDKN2C CDKN1B CDKN1A CDKN2B HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY NME8 STAT1 CLIP2 CR2 RPGR DNAAF4 COL2A1 CXCR4 RSPH4A TONSL CD19 CD79A RMRP CCDC151 FCGR2A HLA-DRB1 BRCA1 SFTPA2 ICOS PRRX1 CTLA4 EXTL3 MGP ZNF341 MUC5B TCF3 NCKAP1L BTNL2 PARN SLC26A2 RTEL1 FLII RASGRP1 FOXF1 SLX4 DNAAF1 AMER1 CCDC114 KANSL1 ARHGEF1 IDS NEK10 RAI1 FGFR2 TERT B3GALT6 CCDC65 FANCB CFAP298 PIK3CD SCNN1A RIPK1 PGM3 FLNB DNAH5 SLC29A3 TNFSF12 ATP11A CCDC103 ITGA8 CD81 HYLS1 TTC25 SLC12A2 GTF2IRD1 NCF2 ZMYND10 GTF2I FANCM ABCA3 CCNO RSPH9 DNAAF6 RSPO2 DNAI1 POR TRRAP CD79B RFC2 PALB2 LRRC6 BACH2 GAS2L2 SEMA3E HYDIN SFTPC AHDC1 ZIC3 DNAH11 FBN2 STK36 IGHM TAP2 DDR2 SNRPB CYBC1 ORC6 TBL2 RSPH1 RAB3GAP2 GAS8 BMPER DEAF1 EGFR FGF20 FANCI TERC XRCC2 SMAD4 CFTR DNAL1 TGFB1 CHD7 IL17RA DNAH9 RET MAP3K7 CYBA RAD51C FANCL RPL5 HAAO FAT4 NCF1 DNAI2 HRAS LRRC8A LIMK1 EHMT1 MS4A1 DICER1 SCNN1G OTX2 FANCE DNAH1 IQSEC2 AFF4 ADAMTSL2 CTC1 NFKB1 FGFR1 GMNN LBR SPECC1L WRAP53 DPP9 SOX9 SCNN1B GRIP1 KCNJ10 DCHS1 DHCR7 FOXJ1 NHP2 KIF22 OFD1 DNMT3B RAD51 DKC1 DNAAF3 SPAG1 WNT7A SFTPA1 GLMN RAC1 TNFRSF13C MAGT1 CFAP300 NBN ATM POLR1C TTC12 DNAAF5 GNPTAB MYRF STN1 KIF7 PROKR2 FOXI1 TRIM2 CARMIL2 EMC1 FANCD2 CCDC40 ARNT2 GREB1L PCNT DSP BRIP1 TAPBP BLNK USB1 LRRC56 IL6ST DRC1 EBP B2M MCIDAS ZEB2 CFAP221 PAX3 CD8A RSPH3 SPEF2 WDR1 ERF LRBA ERCC4 NOTCH3 BLM FANCF DNAAF2 ARMC4 COL4A6 KEAP1 LTBP4 TINF2 NPM1 WNT3 IRF8 SOX3 IDUA BRCA2 HOXD13 CYBB TNFRSF13B RAC2 FANCC KMT2C IL21R HDAC4 WDR26 IRF9 PIK3R1 COL4A5 RALGAPA1 DNAJB13 NFKB2 IGLL1 IL2RG TCOF1 BAZ1B SOX2 ELN FREM2 NOP10 PDGFRB HK1 MYCN UBE2T RFWD3 ORC4 FANCG FAM13A POLR1D TAP1 FANCA TET2 MAD2L2 LTBP3 RIN2 CCDC39 HESX1 PRKCD NCF4 FRAS1 SLC26A4 POLA1 HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR IDUA WNT7A COMP AMMECR1 TAPT1 PUF60 CANT1 TBX15 COL11A1 PEX5 RSPRY1 DDRGK1 SHOX FLNB MATN3 COL2A1 ALG12 CHST3 TRAPPC2 CTC1 SLC26A2 TRPV4 POLR3A FGFR3 BHLHA9 ZBTB16 IHH NANS MMP9 RNU4ATAC B3GALT6 GDF5 SLC39A13 RUNX2 CFAP410 POP1 MEG3 SLC10A7 AIFM1 RTL1 FN1 EXOC6B AGPS IFNGR1 MTX2 TBX4 TMEM67 DLK1 CHD4 BMPR1B TRAF3IP1 PIK3C2A IFT140 XYLT1 POC1A HP_ACCELERATED_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_SKELETAL_MATURATION INPPL1 TET3 PDE4D PPARG HSD3B2 GPC3 DDOST GPC4 TSHR TRPS1 RMRP SUZ12 ABCC9 ALMS1 NFIX GLI3 HSD11B1 LEP KMT2A ACAN NSD1 LHCGR MKRN3 XYLT1 EED BSCL2 CYP19A1 ARCN1 B4GALT7 AGPAT2 CYP11B1 EZH2 PRKAR1A DDX6 SMC1A GNAS SHANK3 FOS IGF2 SETD2 PTH1R CAV1 AIP B3GAT3 APC2 KCNQ1 CHST3 KCNQ1OT1 SMARCA2 CAVIN1 MEN1 H1-4 GPX4 CANT1 POR KCNJ8 CDKN1C SLC35D1 SLC10A7 INSR MC2R LEPR GPR101 PTCH1 ASXL2 CSGALNACT1 RNF135 HP_THORACOLUMBAR_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSIS EXTL3 CDH11 SLC26A2 MAN2B1 MED12L MGAT2 GBA FGFR3 NEPRO AMER1 GUSB GNPTAB NPR2 POP1 FLNB LHX3 HP_BROAD_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_LONG_BONES SALL4 GJA5 HHAT GLI3 XYLT1 WNT5A SMO IFT122 FGFR3 SUMF1 EXTL3 RAB23 MEIS2 MYT1L KCNA1 GDF5 SLC26A2 SUZ12 TRMT1 NOG ACTL6B PIGQ FGFR1 SRCAP FGFR2 LIG4 SIK1 GJA8 FBXW11 FLNB KIF22 COL11A1 FLNA MEGF8 MED13 BMPR1A PTEN COL10A1 ACTL6A KCNJ8 TANC2 SETD5 COL1A1 EP300 KCNH1 BPTF PNKP EZH2 GPC3 DDR2 ROR2 INPPL1 CDKL5 OTUD6B FBN1 PIK3CD DOCK3 DDX6 GPC4 SHOX SLC25A22 MED12 NXN ACAN PYCR2 CREBBP GPC6 ALX4 DVL1 RNU4ATAC COL2A1 SALL1 SCN1B NEPRO NTNG1 TCF20 CHST3 SMARCA2 NEUROD2 SNIP1 SATB2 SMOC1 ZMIZ1 DLK1 DVL3 SHH ABCC9 TBX5 TWIST1 RBM8A USP9X KMT2E LMBR1 IFIH1 RLIM GNAS PIGP EED PDE4D TRIM8 MED25 SVBP BGN B3GAT3 PSMD12 GJA1 SCN2A HOXD13 CTCF MEG3 RTL1 DMXL2 DNMT3A MSX2 GNAO1 NSUN2 AMMECR1 EXOSC2 BMP2 DACT1 G6PC3 FLI1 MAP3K7 ADNP CASK BCORL1 EFNB1 B3GALT6 GATA4 ARX NSD1 PUF60 PRKD1 ADAMTS10 STXBP1 FGF9 WDR19 SLC35D1 KNSTRN COL1A2 WDFY3 ZNF141 NPR2 GATAD2B TRAPPC4 PACS1 RAB33B HP_OSTEOPOROSIS_OF_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPOROSIS_OF_VERTEBRAE BMP15 BNC1 HESX1 LHX4 NUP107 FOXA2 PROP1 FSHR PSMC3IP OTX2 RUNX2 POLR3H POU1F1 SPIDR NR5A1 MRPS22 GLI2 SOX3 HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION FGD1 VANGL1 FLNA GDF6 CHN1 MAFB MEOX1 BMPER SALL4 FUZ GDF3 HP_POSITIONAL_FOOT_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIONAL_FOOT_DEFORMITY SALL4 PUF60 NALCN COL5A2 ADGRG6 EVC PEX5 FBN2 COL6A1 TBX1 ATRX SF3B4 KIAA1109 LONP1 BCOR KY BICD2 TPM2 CHST14 RPGRIP1 ACTA1 MED13L PIEZO2 EOGT NDRG1 NOTCH1 KANSL1 CEP55 MAP3K20 B3GALT6 PLOD2 CPLX1 HDAC8 SEC24C GLI3 RBPJ TBX15 ATP6V1A GTPBP2 NSD2 DHCR7 COL1A2 DSE HBA2 ITGA8 RIPK4 FGFR2 FIBP ALG3 LIMS2 SEMA3E GAN CLTCL1 SPEG PRUNE1 KYNU ALDH18A1 IRF6 TMEM107 OTUD6B DGCR8 BMPER GPC3 ITGA7 SNX14 FKBP10 ZFYVE27 GP1BB HSPB1 SMC1A LMX1B NELFA ARHGAP31 MUSK RUSC2 COL6A3 MAP3K7 GPX4 SYNE1 ERCC5 MKS1 COG4 FKTN COL3A1 HAAO ORC1 DHCR24 HRAS NEK8 SETBP1 SATB2 SLC26A2 MYH3 CCDC47 UBE2A TRPS1 C12orf65 ATAD3A NADSYN1 SOX9 COL5A1 MYPN DCHS1 NEB CRIPT FUZ SMC3 RAB11B MEGF8 LMBR1 SBF2 CHRNG TNNI2 PIGB TMEM216 HSPG2 PTEN PI4KA GNPTAB TTN TRPV4 CHMP1A LETM1 TGDS EIF4A3 COMT IFIH1 VIPAS39 DYNC2H1 COG8 ALG8 GDF5 EED WDR73 GPC4 CHRM3 CD96 TGFBR1 DYM FGD4 B9D1 SHROOM4 TCTN2 RBM10 ERMARD L1CAM B3GAT3 NECTIN1 TNNT3 HK1 PDHA1 SC5D PEX2 IGHMBP2 HBA1 TRAIP C12orf57 LMNA BIN1 STXBP1 TAZ DGCR2 EVC2 RECQL4 HSD17B4 ZSWIM6 AMMECR1 MYBPC1 CANT1 GDAP1 MYL2 COQ8A LGI4 ALG12 SLC35A2 KAT6B NSD1 TAF1 FA2H LAMB2 CHN1 FLNB TBX4 ATP6V1E1 TBC1D23 B4GALT7 GORAB TGFB3 LIFR RYR1 COG1 TGFB2 H1-4 HNRNPK AP4E1 CTH RAD21 TMCO1 SEC31A VPS33B NT5C2 SCYL1 FOXG1 DGCR6 TP63 REV3L ATP6V0A2 FGD1 MYMK RAB23 UFD1 PYCR1 STAC3 MAPK1 ASXL1 AMER1 SUZ12 RAI1 DLAT HACE1 HYLS1 MEGF10 TWIST2 DONSON NEK9 COL1A1 ESS2 AP4B1 ATAD1 RREB1 ESCO2 ANK1 HIRA DPYS ARSI JPH1 MYH7 ZNF148 GSC DST PEX1 TGFBR2 NKAP EZH2 PPP3CA KDM5C MAN2B1 ATR ORC6 RAB3GAP2 SNRPN ALG14 MAFB COL6A2 UNC80 GCH1 SNCA PITX1 SETD5 PSAT1 FBXO7 ENTPD1 TH PTRH2 FAT4 MCTP2 ERGIC1 GLE1 SMOC1 EHMT1 GAD1 EXOC6B SMAD3 COL2A1 SETD2 CHST3 SELENON OFD1 GZF1 PEX26 PLOD3 CTU2 CEP290 JMJD1C GRIA2 ECEL1 BMPR1B VANGL1 WNT7A CTDP1 MYH8 FLNA DLL4 SCARF2 CRLF1 TRIM2 TMEM231 RSPO2 CC2D2A PLEKHG5 SPECC1L EBP FBN1 SAMD9 NDE1 SKI BRPF1 TMTC3 APC2 SLC6A9 ERCC6 ZC4H2 NIPBL CCBE1 PMP22 B9D2 HACD1 KMT2A COLQ IHH ADAT3 EXT1 EIF2S3 DMPK TPM3 PLXND1 KIF1A MFSD2A SLC25A19 AP4M1 COL12A1 CTBP1 CHD7 ARVCF AP4S1 MSX1 DOK7 PLA2G6 WDPCP FGFRL1 DOCK6 RINT1 FLI1 TMEM67 GUSB TOR1A RPGRIP1L CSPP1 PLOD1 SMS MTMR2 DHX16 WARS2 SYT1 SH3PXD2B ERCC2 USP8 MTTP FKBP14 KLHL7 DES ERCC1 RBM8A HP_THORACIC_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSCOLIOSIS AK9 MUSK ITCH CHRNA1 PCGF2 LRP4 COL13A1 SPRTN CHRNE CHRND SCN4A LMNA SOX5 ZMPSTE24 IARS2 AGRN DES RAPSN PYCR2 CHRNB1 PLOD1 DOK7 HP_JUVENILE_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_RHEUMATOID_ARTHRITIS CD247 IL2RB IL2RA IL6 PTPN2 HLA-DRB1 STAT4 ACP5 PTPN22 DCLRE1C MIF LACC1 ANKRD55 HP_DISTAL_ARTHROGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_ARTHROGRYPOSIS PIEZO2 MYH8 ACADM MYBPC1 CHST14 GLI3 MYOD1 MED13L SRPX2 FIG4 ADGRG1 CCDC47 FBN2 YY1 LGI4 TNNI2 ATAD1 PI4KA HP_JOINT_HYPERFLEXIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERFLEXIBILITY ALDH18A1 CLIP2 RPS6KA3 SOX4 SLC6A8 TBX1 CTNND2 VPS37A ATP7A MED12 PTDSS1 COL11A1 DPF2 RMRP XYLT2 IFT122 ARID2 RRAS2 ABCC9 KDM6A NRAS RASA2 CUL4B FGD1 PRDM5 ATRIP COMT CEP152 SKI LOXL3 HRAS COL3A1 UFD1 PYCR1 NFIX XYLT1 EED FLNA ELN SUZ12 PCNT ATR TONSL PIK3R1 WDR35 TGFBR1 SRCAP LIG4 C1S B3GALT6 COL2A1 C1R FLNB RBBP8 OCRL SOX11 IFT43 SEC24C CRKL PTPN11 B4GALT7 NOTCH3 GTF2IRD1 WDR19 CENPJ GTF2I PTEN FGFR3 VPS13B SMARCD1 TAB2 RREB1 TGFBR2 SEC23A CANT1 CUL7 SLC26A2 ABCC6 MAPK1 SEC24D RFC2 PIK3CA KRAS LONP1 HIRA LMNA STAT3 ORC6 COL9A3 ORC4 WASF1 SOS2 GDF5 BCR EXT1 TBL2 NSUN2 LMX1B COL1A2 A2ML1 COL9A1 SOS1 RAF1 GP1BB ARVCF OBSL1 SMARCE1 IFT52 CDC6 SLC9A6 ARID1B PTHLH HNF1B SMARCA4 HOXD13 HDAC4 UPF3B FBLN5 KMT2D TGDS UBE3A SLC2A10 ARID1A C12orf57 RRAS NOTCH2 EZH2 GORAB ZDHHC9 TNXB TRIP11 EFNB1 BAZ1B CDC45 LIMK1 KAT6B EXOC6B RYR1 NSD1 RIT1 PHF6 CCDC8 TGFB2 DDRGK1 FBN1 ANTXR1 ENPP1 CDT1 LZTR1 ZNF469 TRPS1 COL18A1 SMARCC2 PLK4 ORC1 SMOC1 COL1A1 MRAS CENPE PAX2 TRAIP KIF22 JMJD1C COL9A2 CBL PTCH1 SMARCB1 NPR2 P4HB HNF4A PLOD1 SATB2 SEMA5A GMNN ADAMTS2 HP_MULTIPLE_ENCHONDROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ENCHONDROMATOSIS COL2A1 POLR1C IDH1 PTPN11 IDH2 TCOF1 POLR1D PTH1R HP_LETHAL_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHAL_SKELETAL_DYSPLASIA WDR35 DYNC2H1 LBR COL2A1 PTH1R TRIP11 DYNC2I1 IFT80 DYNC2I2 SLC26A2 HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS COMP EXT1 COL1A2 ATP7A COL2A1 TRPS1 CREBBP SIL1 TREX1 EP300 DVL1 WNT5A MATN3 TRPV4 COL1A1 FZD2 INPP5K DVL3 UFSP2 SLC2A10 ADAMTS2 HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS FLNA UNC80 ABHD12 COL2A1 FGFR3 ERCC4 TMEM43 CAV1 FBN2 CCR6 KIAA0319L ALG2 STAT3 BCOR IRF5 KY SELENON ABCD1 F8 TPM2 ACTA1 PIEZO2 TNNT1 AMER1 ERCC6 ABCC8 ANKLE2 MAP3K20 NALCN FUS ERLIN1 COL12A1 PDX1 GLI3 PSMB8 COL6A3 HSPG2 POMT1 EMD NSUN2 RNU4ATAC ESCO2 FHL1 GARS1 SPEG GJB2 COL6A2 OPA1 DDR2 DYRK1A CRPPA LMNA TELO2 SPTBN4 BRF1 GFPT1 PLEC ANO5 DAG1 LIFR ITGA7 DDHD2 GFM2 MYH3 NGLY1 PIGN ERLIN2 PSAT1 KCNJ11 MAP3K7 SDHAF1 SDHA PTRH2 HINT1 MMP2 PTH1R HRAS RYR1 SLC26A2 PTDSS1 SETD2 GCK SYNE2 SGCA FKRP SIGMAR1 TTN ERCC1 KLHL9 HUWE1 KCNK9 COL6A1 CHRNG PLOD2 FKBP10 SCARF2 BAG3 SDHD CNTNAP1 GMPPB TRPV4 TRIM2 NEB ALS2 FDFT1 SPG11 GJB1 SLC39A8 RPL10 PNPT1 SLC29A3 SLC18A3 PSTPIP1 APC2 SLC6A9 ZC4H2 PIK3R2 BICD2 SGCG LARGE1 HACD1 MYO9A ALG14 ZBTB20 SRD5A3 HLA-DRB1 MYOT ADAT3 GNPTAB SIK3 PPP2R5D MYBPC1 TPM3 MYL2 DPAGT1 PIGY SLC25A19 C19orf12 LGI4 KAT6B NSD1 CAPN3 CCN2 FIG4 WDR26 ATP6V1E1 CPT2 INS FKTN NOD2 DHX16 NT5C2 PHF6 ERCC8 TOR1AIP1 RTTN SLC10A7 SDHB SYNE1 MT-TE DPM1 BIN1 SVIL HP_BASILAR_IMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASILAR_IMPRESSION COL1A1 DKK1 COL1A2 NOTCH2 ZBTB20 HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA LMBR1 ZSWIM6 GDF5 GLI3 LIFR HYLS1 ATP7A BHLHA9 SHOX DONSON NEK1 INTU TCTN3 ALG12 MEG3 SHH SLC35A2 EIF4A3 DYNC2H1 SMOC1 BMPR1B RTL1 ZBTB16 GPC6 IHH DLK1 FLNB HP_GENERALIZED_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOSCLEROSIS LEMD3 PHEX LRP5 SOST CLCN7 PTH1R TCIRG1 PLEKHM1 DHCR24 HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES MAN2B1 TBCE TGFB1 COL1A1 FAM111A HP_SHORT_MIDDLE_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_FINGER GDF5 ROR2 MECOM BMPR1B SLC26A2 PUF60 HOXA13 PCNT WNT5A MIR17HG IHH KDM6A PHF6 FGFR3 DVL1 BMP2 KMT2D PDE4D TRPV4 BMP4 VAC14 GJA1 COL2A1 RUNX2 EIF2AK3 FIG4 INTU NEPRO GATA1 KMT2A IGF2 HOXD13 COL10A1 FGFR1 GMNN MYCN IFT57 TFAP2B FGFR2 RBBP8 NIN HP_MULTIPLE_PRENATAL_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_PRENATAL_FRACTURES COL1A1 KLHL40 LBR TAPT1 P3H1 TRIP4 ACTA1 NEB TPM3 KLHL41 COL1A2 CRTAP LMOD3 ASCC1 PPIB MESD HP_PSEUDOARTHROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOARTHROSIS WNT7A EFNB1 NF1 MYF5 FGFR1 ZMPSTE24 MET SRCAP LMNA HP_METAPHYSEAL_CHONDRODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CHONDRODYSPLASIA FGFR3 SBDS MMP13 CWC27 HDAC6 AIFM1 SRP54 RMRP EFL1 GPX4 COL10A1 PTH1R DNAJC21 HP_PROGRESSIVE_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_FLEXION_CONTRACTURES SYT1 ESCO2 ANTXR2 PRUNE1 MED12 GCH1 AIMP1 HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES COL12A1 PIEZO2 PRG4 KCNK9 MORC2 ADAT3 CAPN3 HP_ABNORMAL_CERVICAL_CURVATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_CURVATURE RIPPLY2 SLC26A2 DSE CHRNG FLNB CHST14 CHRNA1 CHRND HP_BILIARY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_ATRESIA ERCC4 RPGRIP1L INPP5E GATA6 TMEM67 CC2D2A ZIC3 LONP1 RFX6 HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES CPLX1 IHH FGFRL1 RPS6KA3 LETM1 COL9A1 GPX4 BGN PCNT SALL1 NSD2 CTBP1 COL9A2 COL9A3 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES WNT7A EXT2 COMP RECQL4 NOG RPS6KA3 HHAT GLI3 PCNT XYLT1 RSPRY1 HOXA13 TRPS1 PCYT1A FLNB SHH SALL4 REV3L BPNT2 LTBP3 PDE3A PEX7 GNAS-AS1 CHST3 FZD2 CD96 FANCI EXTL3 EIF4A3 HDAC4 BMPR1B MYSM1 GNAS SLC26A2 LMBR1 GDF5 VPS35L PDE4D PORCN SMARCA2 DYM FBXL3 HDAC8 FLNA IFT80 RUNX2 FIG4 BGN PIGS TWIST2 SETBP1 SVBP GPX4 NIPBL MEG3 RNU4ATAC KMT2A RTL1 DONSON LONP1 PTHLH PTCH1 DNMT3A NHS SRY FERMT1 PRKAR1A STX16 DDR2 B3GLCT RAB3GAP2 CANT1 PLXND1 TRIP11 RMRP IHH SMC1A SETD5 KCNJ2 FBN1 SUFU LBR MAP3K7 EXT1 HOXD13 BMP2 COG4 COL2A1 SHOX FAT4 COL9A3 TRIO VAC14 B3GALT6 SLC39A13 ANAPC1 PTH1R P3H1 CHSY1 FANCD2 PRMT7 NEPRO ACVR1 DCHS1 ADAMTSL2 ROR2 PHYH COL11A2 CWC27 IFT52 SIL1 RAD21 PTCH2 NPR2 DLK1 TP63 SMC3 FGFR1 RAB33B POC1A VPS13B HP_ABNORMAL_METACARPAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METACARPAL_MORPHOLOGY EXT2 COMP LRP5 RPS6KA3 HHAT GLI3 XYLT1 HOXA13 FLNB SHH NOG REV3L LTBP3 FZD2 CD96 FANCI EXTL3 SLC26A2 ZIC1 LMBR1 TRPS1 KIF7 HDAC8 FLNA FBLN1 INTU FAM149B1 TWIST2 SPARC SETBP1 HOXD13 GPX4 RNU4ATAC PDE4D CPLANE1 PRG4 PTHLH PDE6D OFD1 PRKAR1A DDR2 GDF5 B3GLCT PDE3A FBN1 RAB3GAP2 RSPRY1 KIAA0753 RMRP GLB1 SMC1A SETD5 SUFU LBR MAP3K7 SALL4 COG4 COL2A1 IHH MMP2 FAT4 FGF16 BMP2 TRIO VAC14 SMOC1 ANAPC1 PTH1R P3H1 CHSY1 RUNX2 NEPRO ACVR1 ADAMTSL2 CHST3 ROR2 NEK1 NFIX TCF12 IFT52 SIL1 KIF22 PTCH2 DLK1 SMC3 BMPR1B VPS13B WNT7A RECQL4 PCNT SCARF2 PCYT1A BPNT2 PEX7 GNAS-AS1 TMEM216 EIF4A3 HDAC4 IFIH1 MYSM1 GNAS VPS35L PORCN SMARCA2 GALNS DYM COL11A2 FBXL3 IFT80 FIG4 FGFR3 BGN PIGS SVBP PQBP1 NIPBL MEG3 KMT2A RTL1 DONSON LONP1 PTCH1 DNMT3A NHS SRY FERMT1 NONO STX16 MMP14 CANT1 PLXND1 TRIP11 KCNJ2 EXT1 SHOX GUSB BHLHA9 COL9A3 B3GALT6 SLC39A13 FANCD2 TWIST1 PRMT7 ADAMTS10 DCHS1 PHYH CWC27 FGF9 TCTN3 RAD21 NPR2 TP63 FGFR1 RAB33B POC1A HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY NOD2 WDR35 COMP PUF60 GJA5 SOX4 HES7 NALCN ARMC9 EVC XYLT1 WNT5A IFT122 SF3B4 RMRP KCNH1 HHAT DMD BRCA1 GDI1 MGP GDF5 CCDC22 MTOR EOGT IFT27 B9D1 NOTCH1 CEP55 TGFBR1 TRPS1 FGFR1 FGFR2 LIG4 GJA8 KIF22 PIK3R2 HDAC8 FKTN RPL15 ARHGEF6 ARID1A IFT172 NSD2 DHCR7 FANCM ADA2 COL10A1 KATNIP ACTL6A KCNJ8 RPGRIP1L DYNC2I1 C8orf37 KIF7 EP300 LMBR1 GLI1 OFD1 LAMB3 BPTF HOXD13 LMNA TMEM107 ROR2 PDE3A MECOM FGF10 FBN1 TBR1 GPC3 DEAF1 ZMPSTE24 CIBAR1 XRCC2 CLCF1 GP1BB UPF3B CD244 SETD5 NELFA MUSK ACAN TMEM237 GGCX SALL4 DYNC2I2 IQSEC2 PYCR2 ERCC5 MKS1 COG4 IHH ALX4 MSX2 VAC14 ERCC8 MBTPS2 CLCN7 GATA1 SMARCA2 ATP6V1B2 GJB6 AHI1 GMNN LBR WDR73 TMEM70 RPS15A RAD51 COL6A1 DVL3 SMC3 RBBP8 CHRNG CCND2 MATN3 PAX3 RECQL4 RBM8A PGAP2 TMEM216 TGDS EIF4A3 KMT2E FANCD2 COMT RLIM TUBB3 MKKS GPKOW WNT7A RPL11 MECP2 RPS19 ALX3 MED25 CTDP1 TCTN1 DYM CRKL TCTN2 RUNX2 EIF2AK3 PIGS WDR19 PIGL HPGD TNNT3 SMARCD1 NOG PQBP1 TWIST2 TMEM67 RAB23 BBS9 RPS10 ACTB CNKSR2 PIK3CA IGHMBP2 L1CAM DYNC2LI1 CTSC ZBTB20 GLI2 RBPJ DLL3 SLC25A24 RBM10 NSUN2 AMMECR1 CANT1 AKT3 TRIP11 IFT140 AEBP1 PIEZO2 CEP120 BMP2 NSD1 LRP4 KCNJ2 DVL1 RPS28 EVC2 FRMPD4 GJA1 CAPN3 FANCC CHN1 KMT2D PSMD12 TRPV4 B4GALT7 PTPN22 PIBF1 BMP4 PRKAR1A KAT6B B3GALT6 NPHP1 PDGFRB GATA4 LIFR FLNA SLC39A13 IFT80 OCRL SC5D MACROH2A1 SMARCC2 RPL5 MAD2L2 CWC27 CCN6 FGF9 TTC8 EMG1 FTSJ1 KNSTRN EDA HCFC1 WDFY3 ZNF141 MORC2 INPPL1 RERE MYH8 TMCO1 POC1A BMPR1B TBX3 DOK7 PGAP3 PTDSS1 HOXA13 GLI3 SUMF1 PIGV FZD2 CD96 MAFB MYT1L PIGN UFD1 KIF1A SLX4 SUZ12 TRMT1 ACTL6B NUP107 RIPK4 SRCAP BBS1 TBC1D24 MED13 INTU FAM149B1 NAA10 IKBKG PDE4D TPRKB COL2A1 COL11A2 PALB2 PRG4 DPYS PDE6D ZIC3 FBN2 SEMA3E RPS6KA3 TGFBR2 EZH2 NIN ORC4 ERCC2 BCR ATR PIK3CD DDX6 KIAA0753 UNC80 WASHC5 TMEM138 SMARCE1 DSP CEP290 SUFU USP9X CNOT1 MCTP2 IDUA BBS2 CEP41 CCBE1 SETD2 FGFR3 WDPCP NEPRO FANCE CHST3 ACVR1 KCNN3 CPLANE1 SATB2 NEK1 KDM5C KCNK9 MRPS28 JMJD1C PTCH2 ATL3 ZMIZ1 RPL27 PEX6 ERGIC1 ADAMTS3 FANCA ABCA12 ZNF81 TWIST1 UBA1 DDX59 CUL4B TMEM231 GPC4 HYLS1 TBX5 PORCN CC2D2A SOX11 SVBP ACTG1 CCDC28B NIPBL RPL35A SLC26A2 PRDM16 ESCO2 PIGY RPS7 LONP1 TFAP2A RAI1 ORC6 DNMT3A MTX2 CTSK CLCN4 ADAT3 BLM FANCF ALG13 PRKACB PCGF2 MYH3 COL6A3 ZNF423 COL11A1 COL12A1 PTCHD1 ARVCF DACT1 IFT52 FLI1 SLC16A2 PPP2R3C PIGO CDC45 EDA2R SLC18A3 FANCL PRKD1 BHLHA9 SALL1 ANTXR2 SDCCAG8 MYCN SH3PXD2B TCTN3 EBP ORC1 TFAP2B LFNG KLHL7 STAMBP IDS PAH NPR2 GATAD2B TP63 TRAPPC4 FLNB CWF19L1 PIGW MED12 SOST TBX1 NHS ARID2 FANCI TSR2 PHF8 MEIS2 SKI RPGRIP1 FBXW11 CPLX1 SEC24C ADAMTS2 PSMB8 SETBP1 PTEN RETREG1 ATRX RAB3GAP1 TTC21B FRAS1 LAMA3 OTUD6B DOCK3 DDR2 ALX1 INPP5E NGLY1 SMC1A NXN CDC6 PHF6 ARHGAP31 DYNC2H1 DLX5 GPX4 CREBBP COL3A1 HINT1 PLAA TRIO SHMT2 C2CD3 WDR4 NUP88 NTNG1 TCF20 CDT1 SNIP1 SHH ADAMTSL2 ERCC1 EFTUD2 ARL6 NFIX NOTCH2 COL5A1 CRIPT CEP104 MEGF8 SMARCA4 TNNI2 PIGB PCNT GNPTAB DPF2 CSPP1 PAK3 LETM1 COG5 IFIH1 EED MESP2 SMG9 TRIM32 BBIP1 CHST11 B3GAT3 NLRP3 AGTR2 TP53RK MAPK1 KCNAB2 POLR3A RIPPLY2 IFT57 SMO PTCH1 ERCC4 EXOSC2 ZNF41 RPS24 SLC35A2 SOX9 SLC9A7 ACP5 OSGEP RPL18 CXorf56 ZDHHC9 GABRD LAMC2 PEX1 KIAA0825 IGF2 UBE2T NFKBIL1 PTH1R RAD21 SMARCB1 SCN9A PACS1 RAB33B FANCB PADI4 WFS1 CHSY1 LZTFL1 ARSL KDM6A SH2B1 FGD1 EXTL3 COL5A2 FLII ARID1B ASXL1 KIF15 NUP133 RAB3GAP2 TPM2 BMPR1A MEGF10 BBS10 PITX1 COL1A1 RREB1 TANC2 RPL35 SMAD3 RPL31 HIRA COL6A2 DLG3 CDKL5 ERCC6 LEMD3 RPL26 CHD7 PTHLH ARL13B RAD51C ITGB4 MMP2 SMOC1 RNU4ATAC ANAPC1 MYOD1 BBS7 SMARCAD1 ACSL4 ACOX1 SLC22A4 CRLF1 DLK1 DLL4 BCOR ASPN MIR17HG WNK1 ABCC9 HDAC4 GNAS MYBPC1 RPS17 VPS35L SYP BRIP1 JAG1 MID2 SLC29A3 IARS1 IFT43 FIG4 BGN APC2 ZNF711 BBS5 MEG3 DHODH B9D2 KMT2A BBS4 RTL1 PNPLA6 ACTG2 KIAA0586 FERMT1 BANF1 EXT1 RAPSN BBS12 SLC35A3 CTBP1 TSPAN7 RAB39B BRCA2 KAT6A ARL3 FGFRL1 DOCK6 FAT4 G6PC3 RPS26 LAGE3 MAP3K7 ADNP USP27X ARX RPS29 BCORL1 EFNB1 IL11RA COL17A1 IL10 ADAMTS10 RFWD3 FANCG RTTN IL1RAPL1 RPS27 CIITA HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND EXT1 ATR DYM SRCAP FLNA ERCC6 COL2A1 RUNX2 EIF2AK3 BGN EVC TRPS1 TRIP11 IFT140 GDF5 RMRP IHH IFT172 RAB23 MGP NEK1 PRKAR1A FGFR3 BMPR1B GPX4 IFT52 MRPS28 ATRX COG4 KIF15 COMP KCNH1 NPR2 EVC2 ERCC8 HP_ABNORMAL_HAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_MORPHOLOGY KDM1A KDM6A SALL4 PIGW PUF60 PPARG SOX4 NOG FANCE WNT5A IFT122 SCYL2 KIAA1109 KCNH1 SUZ12 DMD SHANK3 ARID2 SLX4 ABCC9 GDI1 BCOR FANCI TSR2 MGP BICD2 PHF8 MEIS2 TPM2 KCNA1 MTOR EOGT CHRND NOTCH1 PIGQ TRPS1 SIK1 CPLX1 HDAC8 BRIP1 NSD1 RBPJ ARHGEF6 TBC1D24 SPART GTPBP2 RPS19 ITGB4 NSD2 DHCR7 SETBP1 ADA2 COL10A1 TNNI2 RNU4ATAC KCNJ8 FANCC BSCL2 EVC FIBP GLI1 HOXD13 GDF5 ROR2 MECOM PALB2 DHODH TBR1 GPC3 CHRNA1 UPF3B SLC25A22 SMC1A NELFA PHF6 ARHGAP31 ACAN GPX4 MYOD1 GGCX IQSEC2 COG4 RAD51C CTSK COMP LAMC2 MASP1 IHH NF1 TRPV4 KIT VAC14 OBSL1 SLC26A2 COL2A1 CLCN7 SCN1B GATA1 HESX1 COG7 NFIX GMNN IFT52 NEB GPR101 RPS15A EBP CRIPT CDKL5 SMC3 RBBP8 AIP PIGB PCNT PI4KA CNTNAP1 DPF2 LMNB2 GPC4 PGAP2 PAK3 LETM1 EIF4A3 TMEM94 BMPR1B POLR3A FLNA EED GNAS MADD RPL11 PDE4D MECP2 SMG9 WDR73 MYH3 MED25 GJA1 CRKL RUNX2 EIF2AK3 PKDCC CHST11 PIGS WDR19 AGTR2 PIGL WIPI2 TNNT3 SMARCD1 SCN2A RPL10 RPS10 MAPK1 CNKSR2 PSMD12 L1CAM DYNC2LI1 DMXL2 ZBTB20 IFT57 PTCH1 TFAP2B MYCN RECQL4 GNAO1 SLC25A24 CANT1 ZNF41 PIGY COL7A1 FGD1 RPS24 FGFR3 SLC9A7 ACP5 DVL1 RPS28 FRMPD4 ASNS ATP6V1B2 BMP2 KMT2D SMARCE1 ATP6V1E1 ARID1A RPL18 CXorf56 NOTCH2 BMP4 FOS PIK3C2A MMP1 LMNA PEX1 STXBP1 LAMA3 MEN1 CUL7 IGF2 SMARCC2 RPL5 CWC27 AIFM1 TBL1XR1 FTSJ1 KNSTRN EDA HCFC1 RAD21 SMARCB1 CNTN1 ZMPSTE24 POC1A ALOX12B MAPT RPS6KA3 PGAP3 HOXA13 ARSL COX4I1 ALMS1 PIGV FZD2 NALCN APC USP9X PIGN RMRP ARID1B KIF15 WDR35 FLNB INTU NEK9 FBN1 IKBKG CCDC22 RPL35 RPL15 RPL31 SEMA3E DLG3 UBE2T DST PNKP EZH2 NIN ASAH1 KDM5C PHGDH BCR PIK3CD ADAMTS10 ATN1 SMAD4 PRKDC ZMIZ1 LTBP2 SETD5 RPL26 CHD7 DSP LRP4 SUFU PTHLH SMARCA4 MCTP2 GLE1 ESCO2 INSR SETD2 NEPRO CHRNG ACVR1 CAVIN1 MED12 NEUROD2 KCNN3 EVC2 OFD1 ACSL4 FGFR1 CTU2 TBX3 IRX5 FAM50A PTCH2 FGFR2 DLK1 RPL27 PEX6 DLL4 RAC1 PACS1 CNOT2 FANCA PCYT1A MIR17HG LAMB3 ZNF81 SIN3A CHST3 NXN MYBPC1 MMP2 PIGP RPS17 BRCA2 VPS35L SYP TRIM8 PORCN SDHB JAG1 ALOXE3 MID2 CDK5 SOX11 IFT43 SAMD9 CAV1 PIGO FIG4 APC2 ACTL6B ZNF711 GAN MOGS SLC6A9 SVBP NIPBL RPL35A MEG3 RPS7 KMT2A RTL1 TFAP2A AGPAT2 CLCN4 ABCA12 ALG13 SDHC MMP14 HMGA2 PTCHD1 CTBP1 TSPAN7 RAB39B DOK7 FGFRL1 DOCK6 RPS26 HERC1 MAP3K7 TOR1A CASK USP27X ARX RPS29 BHLHA9 EDA2R FANCD2 PTF1A PLAG1 TCTN3 IL1RAPL1 CDKN1C COL17A1 RPS27 STAMBP PSAT1 HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY COMP MMP13 NPHP1 ATP7A EVC XYLT1 DDRGK1 IFT122 PEX19 RMRP MAP3K7 WNT5A PEX12 TRAF3IP1 MGP CEP152 IFT140 LOXL3 FGFR3 GDF5 PEX6 TRPS1 CYP2R1 B3GALT6 CPLX1 KIF22 RBBP8 PEX2 OCRL PEX1 CDKN1C CENPJ DYM IFT172 NSD2 DHCR7 NSDHL PIK3R1 COL9A2 GPX4 MMP9 COL10A1 PEX10 COL9A3 COL2A1 GNPTG RNU4ATAC MATN3 KIAA0586 DYNC2I1 NPR2 ATRX EP300 PDE4D TTC21B KCNH1 PDE3A MIR140 SRCAP PEX5 PEX26 GLB1 PEX16 PEX13 CDC6 TRPV4 ACAN FBN1 BMPR1B GGCX PHEX CREBBP COG4 CTSK IHH GUSB ERCC8 SLC26A2 RET CEP290 CLCN7 SMARCA2 CDT1 CKAP2L PLK4 ADAMTSL2 SMARCAL1 LBR PEX3 IFT52 CENPE FZD2 SNX10 LMBR1 PEX14 PEX11B ADAMTS2 PCNT KIF7 HSPG2 DYNC2H1 COL11A1 PEX7 EIF2AK3 PRDM5 IFIH1 LETM1 TONSL OFD1 TYROBP PTPN11 RUNX2 DYNC2LI1 LEMD3 SRP54 TREX1 TREM2 RAB23 LONP1 SLC34A3 IQCB1 CA2 EVC2 SIK3 TRAPPC2 CANT1 COL1A2 INVS TRIP11 FLNB WDR19 GORAB PRKAR1A VDR PIK3C2A COL11A2 FLNA SLC39A13 CLCN5 CCN6 FGF9 SLC10A7 LTBP3 SDCCAG8 AIFM1 AGPS KNSTRN PTH1R PISD INPPL1 RAB33B POC1A TMEM165 HSPA9 SBDS RPS6KA3 HPGD ARSL TBX4 MAFB ATRIP PYCR1 PIGL TCIRG1 CYP27B1 KIF15 ATR NANS UFSP2 TNFSF11 DNAJC21 RPL13 IFT80 ORC4 DDR2 ESR1 PIK3CD ERCC6 SLCO2A1 RSPRY1 COL9A1 WNK1 SMAD4 ZMIZ1 CEP164 NOG DVL3 TGDS SLC2A10 IDUA NEU1 EXOC6B DVL1 ZNF469 CHST3 PLOD3 NEK1 MRPS28 NPHP3 INPP5K TRAIP DLK1 GMNN CYP19A1 DYNC2I2 SIL1 SHOX EXTL3 VPS35L EBP GALNS SCN9A BGN THRB MEG3 RTL1 CEP120 ORC6 NKX3-2 EXT1 GNPAT HOXA13 CTBP1 SNRPB EFL1 FGFRL1 RINT1 NSMCE2 NPHP4 CSPP1 CDC45 SALL1 RETREG1 PHYH ORC1 PORCN COL1A1 ARSB KIF1A HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION COQ7 DZIP1L BSND INVS PKHD1 OSTM1 DHX16 PBX1 NIPBL HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY CFAP298 DNAAF5 CCDC40 CFAP300 CCDC114 DNAL1 ARMC2 LRRC6 RSPH4A CCDC151 ZMYND10 DNAAF1 TTC12 DNAAF3 DNAJB13 DNAAF2 RSPH9 CCDC103 NME8 CCDC39 DNAI1 HP_RESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ARREST MYO9A VAMP1 SLC25A20 SNAP25 COL13A1 COL2A1 KIT SYT2 CPT2 CHAT SLC25A1 TSPYL1 SLC2A10 GPX4 SLC5A7 SLC18A3 LAMP2 AGRN HP_APNEIC_EPISODES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_IN_INFANCY SCN4A SCN5A NACC1 PLA2G6 ACADSB FBP1 HP_DECREASED_PULMONARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PULMONARY_FUNCTION TLL1 SCNN1A SMPD1 BAP1 TRAF7 TERT SLC34A2 SUFU AKT1 SCNN1B SCNN1G PIK3CA COL6A2 GUSB NF2 SMARCE1 CFTR PLOD1 SMARCB1 PDGFB SMO HP_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREATHING_DYSREGULATION INPP5E NDUFS6 RPGRIP1L TMEM216 TBX20 GATA6 ELP1 CEP290 GATA4 KYNU PHOX2B ACTC1 NKX2-5 CITED2 RET ASCL1 MYH6 TMEM67 AHI1 TLL1 HP_TEMPERATURE_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPERATURE_INSTABILITY SHH TDGF1 NODAL GLI2 CDON STAG2 PTCH1 ALG11 DLL1 FGF8 PLA2G6 DISP1 TGIF1 PWRN1 FOXH1 SIX3 HERC2 MKRN3 GAS1 SNORD115-1 DDC PSAP NDN PWAR1 MAGEL2 FGFR1 SLC25A19 ZIC2 SPR VPS11 NPAP1 SLC18A2 GALC SMC1A SNORD116-1 SNRPN HP_TYPE_II_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_DIABETES_MELLITUS RHO CLIP2 CRB1 ARL6 SLC7A14 POLA1 PPARG CYP19A1 PCNT SNRNP200 KIAA1549 TOPORS EYS NEK2 ALMS1 SPATA7 PRPF3 CERKL PRCD PPP1R3A SEMA4A ENPP1 RP2 IFT88 RPGR PRPF4 IDH3A CNGB1 MKRN3 SPINK1 PDE6B ABCC8 SNORD115-1 AKT2 RDH12 MT-ND1 PLCD1 MT-TF HNF4A STUB1 SAG CEP19 MAGEL2 NEUROD1 RGR KCNJ11 SLC2A2 RETN TULP1 IMPDH1 IFT140 DHX38 MT-TK CTNNB1 BBS2 NRL MT-TL1 IFT172 AIP MT-CO3 WFS1 GTF2IRD1 CAT MT-TE DMXL2 GTF2I SCAPER MT-TQ TTC8 RLBP1 C8orf37 CNGA1 PDE6A NR2E3 MT-CO1 RFC2 PDX1 KIZ POLR3A RP1L1 PNPLA6 LIG4 TCF7L2 MT-TS2 IRS1 HNF1A ARL2BP BLM RP1 AR KLHL7 PRPH2 MOG TBL2 IRS2 REEP6 MT-ND5 AHI1 LRAT PEX10 ARL3 KLF11 POMGNT1 CLRN1 GUCA1B IDH3B CRX USH2A PWRN1 RPE65 AGBL5 TUB BEST1 CLCNKB GPD2 ATM ARHGEF18 SIM1 HERC2 MT-ND6 PRPF31 FAM161A FBN1 CARS1 CDHR1 PRPF6 MAPK8IP1 NDN GLRX5 MERTK PROM1 PWAR1 PAX4 LIPC BAZ1B LIMK1 XRCC4 ELN IL6 ZNF513 SLC12A3 MT-TW LMNA ROM1 ZNF408 SLC30A8 MTNR1B AMACR HGSNAT PCARE MEN1 BRAF PRPF8 HMGA1 MT-TH GCK IMPG2 RP9 IGF2BP2 RBP3 MT-ND4 CA4 INSR PTPN1 FSCN2 NPAP1 OFD1 HNF1B AHR ABCA4 MAK MT-CO2 DHDDS SNORD116-1 MC4R SNRPN WRN PDE6G HP_LIMITATION_OF_NECK_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_NECK_MOTION MEOX1 UNC93B1 COL2A1 TICAM1 STXBP1 MYH7 IRF3 PCDH19 COL6A2 SELENON SCN1A GABRA1 GDF6 NEK9 MYH3 NDE1 SCN2A CACNA1A TRAF3 TBK1 PRRT2 ERLIN2 DKK1 TLR3 SCN1B NOG ATP1A2 GABRG2 LMNA SCN9A TTN HP_CONGENITAL_MUSCULAR_TORTICOLLIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_TORTICOLLIS COL6A2 COL12A1 MEOX1 ERGIC1 GDF6 COL6A1 PPP2R5D GDF3 COL6A3 HP_REDUNDANT_NECK_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_NECK_SKIN KIAA0586 ATP6V1E1 ATP6V0A2 WDR37 ATP6V1A RTL1 TBX15 MEG3 FIG4 DLK1 CEP55 NDUFB10 PEX1 MRPS22 HRAS CSPP1 VAC14 MRPS16 HP_NODULAR_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NODULAR_GOITER DICER1 KEAP1 RET MMP14 FOXE1 SASH1 ALMS1 MMP2 MINPP1 HABP2 HP_URETERAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_OBSTRUCTION KDM6A SIX5 BRF1 FLNA CDH11 SETD2 HOXA13 APC2 PIGL HNF1B SLC26A1 DHCR7 LAMA3 LAMB3 HLA-DPB1 PTPN22 TBX18 HLA-DPA1 GRHPR PRTN3 NSD1 PIGT MYOD1 KMT2D DSTYK MAP3K7 EYA1 LAMC2 YY1 CTLA4 ATP7A SETBP1 SIX1 HP_Y_SHAPED_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_SHAPED_METACARPALS KIF7 CPLANE1 NEK1 TMEM216 TCTN3 PDE6D INTU FAM149B1 KIAA0753 GLI3 HOXD13 OFD1 HP_PALMAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_HYPERHIDROSIS RSPO1 PLAA LAMA3 MBTPS2 LAMC2 KRT17 KRT6B PERP SERPINB7 WNT10A ITGB4 COL17A1 KRT6A LAMB3 CTSB KRT16 TRPV3 HP_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SYNDACTYLY TP63 SALL4 HES7 GLI3 CHSY1 CTNND2 WDPCP NOG CDH3 SOST LZTFL1 PTDSS1 SMO FGFR3 REV3L WNT5A IFT122 BTRC RB1 BRCA1 FGD1 APC ITGB4 RAB23 NECTIN4 CCDC22 FLNB PIEZO2 EOGT IFT27 SLX4 SUZ12 NOTCH1 WDR35 FGFR1 FGFR2 BBS1 FANCB RBPJ MEGF8 DLX6 KCTD1 SF3B4 KIFBP BBS10 FANCM HOXD13 VPS13B NAA10 IKBKG PTEN KCNJ8 RIPK4 PALB2 MECOM NECTIN1 FRAS1 GPC3 IRF6 ROR2 FGF10 SEM1 FANCI GPC4 NEK9 WASHC5 XRCC2 SPECC1L ARHGAP31 LRP4 EPS15L1 RAD51C CDH1 DVL3 FAT4 ORC1 EZH2 C8orf37 CCBE1 BBS7 WNT10B FANCE DLX5 MYH3 DVL1 PHGDH GJB6 CKAP2L SHH NEK1 SMOC1 GRIP1 DHCR7 FZD2 ERF RAD51 MED12 KIF7 SEMA5A CHRNG LMBR1 WNT7A DLL4 BCOR ADAMTS3 ARL6 PAX3 PITX1 ABCC9 TBX5 TWIST1 RBM8A PLEC NXN FANCD2 MKKS BHLHA9 EED MESP2 BRIP1 OFD1 MED25 CEP290 RPL10 CTNND1 GJA1 IFT43 GDF5 TRIM32 BBIP1 BMP4 WDR19 LEMD3 BBS5 HOXA11 DHODH ARL6IP6 BBS9 ESCO2 PIK3CA BBS4 RIPPLY2 PNPLA6 ERCC4 FERMT1 AKT1 FANCF DLL3 TCTN3 BBS12 RBM10 PLXND1 IFT172 BRCA2 IFT52 KAT6A DOCK6 MKS1 FLI1 FANCC HDAC4 UBE3A BMS1 EFNB1 NPHP1 NSD1 FREM2 FANCL SALL1 SDCCAG8 UBE2T DCHS1 RFWD3 FANCG RTTN FANCA MAD2L2 PORCN LFNG TTC8 BBS2 HP_ABSENT_PHALANGEAL_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PHALANGEAL_CREASE HOXD13 PIEZO2 NOG LMX1B TPM2 MYH3 TBX15 MASP1 IHH TNNI2 COL1A2 RBBP8 HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS PHF6 HOXA13 FGFR1 FGFR2 COL2A1 EIF2AK3 GDF5 HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS MID2 PIGW PIGL ARHGEF6 ZNF41 PIGO PIGY PGAP3 RPS6KA3 AGTR2 ZNF711 MED12 PTCHD1 DMD UPF3B ZNF81 TSPAN7 RAB39B PGAP2 GDI1 ACSL4 PAK3 PHF6 CNKSR2 IL1RAPL1 SLC9A7 USP9X FRMPD4 FTSJ1 IQSEC2 HCFC1 VPS35L SYP USP27X ARX MECP2 DLG3 CLCN4 CXorf56 PIGV ALG13 HP_ACRAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACRAL_ULCERATION RETREG1 NGF WNK1 SCN9A CCT5 KIF1A MPV17 NTRK1 HP_ABNORMAL_FINGER_FLEXION_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_FLEXION_CREASES HOXD13 WNT7A ATR PIEZO2 NOG LMX1B TPM2 MYH3 TBX15 GDF5 MASP1 IHH TNNI2 COL1A2 RBBP8 HP_CENTRAL_Y_SHAPED_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_Y_SHAPED_METACARPAL KIF7 CPLANE1 TMEM216 OFD1 TCTN3 PDE6D INTU FAM149B1 KIAA0753 HP_INCREASED_LAXITY_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LAXITY_OF_FINGERS COL6A3 COL6A1 COL12A1 COL6A2 COMP HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS SLC22A4 SACS PADI4 IL10 CIITA PTPN22 NFKBIL1 CD244 HP_MESOAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_HAND_POLYDACTYLY FAM149B1 TFAP2B GLI3 HOXD13 FGFR2 CHSY1 MKKS TWIST1 CPLANE1 HP_DECREASED_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PALMAR_CREASES DSE PLOD3 PIEZO2 AUTS2 CHST14 HP_DEEP_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PALMAR_CREASE BRAF SHOC2 RBM10 AIP GPR101 ASXL1 CDK10 SLC25A24 KCNN3 ATP6V0A2 KRAS KCNH1 HNRNPK MAP2K1 MTOR TBL1XR1 SPECC1L ATP6V1B2 VPS33A ASXL2 MTX2 MAP2K2 HRAS HP_PHALANGEAL_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHALANGEAL_DISLOCATION COL5A2 AEBP1 COL1A1 CANT1 B4GALT7 COL5A1 B3GALT6 HP_ENLARGED_INTERPHALANGEAL_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_INTERPHALANGEAL_JOINTS CCN6 MATN3 HOXD13 COL2A1 KAT6A HP_LIMITED_WRIST_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_MOVEMENT GNE SHOX PIEZO2 FLNA LAMB2 ZMPSTE24 MAP3K7 COLQ SALL4 OPA3 MYH7 GNPTAB LMNA HP_LIMITED_WRIST_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_EXTENSION GNE COLQ PIEZO2 LAMB2 MYH7 HP_INTERPHALANGEAL_JOINT_EROSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERPHALANGEAL_JOINT_EROSIONS SLC22A4 PADI4 IL10 MMP2 CIITA PTPN22 NFKBIL1 CD244 HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY COMP PTDSS1 COL12A1 P4HTM PIGG PKDCC IFITM5 RNF13 FBN1 GORAB FGD1 BRAF COL6A1 COL6A2 KCNH1 COL1A2 NFASC COL6A3 NLRP1 COL5A1 OTUD6B COL3A1 RPS6KA3 YY1 CSGALNACT1 PLAA SMS HRAS VCP HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION SETD2 B3GALT6 ENPP1 CANT1 EBP GPC3 SLC35D1 BGN HOXA13 XYLT1 GPC4 PTH1R TONSL TRIP11 MBTPS1 ABCC6 MATN3 PIGV CHST3 SLC10A7 EXTL3 RMRP LONP1 KIF22 COL2A1 UFSP2 FLNB IHH TRPV4 DDR2 HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND NOD2 PADI4 FLNA WFS1 HES7 NALCN DOK7 MED12 FBN2 TNNI2 WNT5A SH3PXD2B FGD1 MAFB SKI ARID1B PIEZO2 XYLT1 ASXL1 SUZ12 TGFBR1 TRPS1 SRCAP NUP133 FKTN TPM2 PSMB8 COL6A3 MEGF10 HOXD13 NAA10 IKBKG COL2A1 MATN3 ZMPSTE24 TPRKB COL11A2 PRG4 FGFR2 SMAD3 COL6A2 LAMB3 GPC3 ORC4 ERCC2 BCR LAMA3 TBR1 LIFR ALX1 CLCF1 CD244 CDC6 MUSK ITGB4 ERCC5 UPF3B DVL3 HINT1 MMP2 NOG TGDS IDUA EZH2 SMOC1 COL12A1 WDR4 CCBE1 SETD2 NUP88 MYOD1 MBTPS2 MYH3 FBN1 DVL1 CDT1 SMARCAD1 SHH ADAMTSL2 ERCC1 KDM5C KCNK9 WDR73 TMEM70 TBX3 FZD2 SLC22A4 COL6A1 CRLF1 CHRNG GMNN PEX6 PAX3 ERGIC1 BCOR ADAMTS3 ASPN SALL4 UBA1 CUL4B CHST3 NXN LMBR1 COG5 FGFR3 TUBB3 GNPTAB GPKOW MYBPC1 SMC1A EED IDS MESP2 SMG9 GPC4 ALX3 MED25 SMARCA2 CTDP1 SLC29A3 CRKL GDF5 APC2 NLRP3 PIGL TNNT3 ERCC6 TWIST2 TGFBR2 CANT1 DHODH SLC26A2 TP53RK MAPK1 KCNAB2 PRDM16 IGHMBP2 L1CAM GJA1 POLR3A RIPPLY2 ORC6 ACTG2 ADAT3 FERMT1 DLL3 TCTN3 RAPSN PCGF2 COL11A1 SLC35A3 LMNA KAT6A SLC35A2 ROR2 NSD1 FAT4 LAGE3 CAPN3 OSGEP MAP3K7 TRPV4 SLC16A2 PTPN22 ZDHHC9 EFNB1 CDC45 KAT6B SLC18A3 GABRD SLC39A13 LAMC2 CCN6 PEX1 COL17A1 OCRL IL10 ANTXR2 RTTN ORC1 PORCN LFNG FGF9 EMG1 NFKBIL1 KLHL7 NUP107 CIITA MORC2 RERE HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER GDF5 KDM6A WNT7A BMPR1B HMGA2 PUF60 RAC1 CNOT2 HOXA13 FGD1 WNT5A COX4I1 MEIS2 DVL1 SMC3 ARID1B KMT2D BMP2 KIF15 MASP1 OBSL1 GJA1 PIK3C2A TBC1D24 COL2A1 RUNX2 PKDCC PLAG1 GATA1 CUL7 IGF2 HOXD13 ROR2 CDKN1C MYCN TFAP2B RBBP8 NIN HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER BMPR1B MEIS2 COL2A1 RUNX2 HOXD13 GDF5 MYCN IRX5 BMP2 INTU KIF15 GPC4 GPC3 HP_APLASIA_HYPOPLASIA_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_FINGERS KDM1A KDM6A SALL4 PIGW PUF60 SOX4 NOG FANCE WNT5A IFT122 SF3B4 KCNH1 DMD ARID2 SLX4 RB1 BRCA1 GDI1 FANCI TSR2 MGP MEIS2 KCNA1 MTOR EOGT CHRND NOTCH1 PIGQ TRPS1 FGFR1 LIG4 SIK1 CPLX1 HDAC8 BRIP1 RBPJ ARHGEF6 TBC1D24 RPS19 NSD2 DHCR7 SETBP1 FANCM ADA2 COL10A1 ERCC4 KCNJ8 BCOR FANCB RIPK4 FANCC EVC LMBR1 GLI1 FRAS1 HOXD13 GDF5 LMNA ROR2 MECOM FGF10 PALB2 DHODH GPC3 CHRNA1 XRCC2 UPF3B SLC25A22 SMC1A RFWD3 NELFA PHF6 ARHGAP31 DLX5 ACAN GPX4 GGCX IQSEC2 COG4 RAD51C CTSK COMP MASP1 IHH TRPV4 TRIO VAC14 OBSL1 SLC26A2 COL2A1 WNT10B CLCN7 SCN1B GATA1 HESX1 NFIX GMNN IFT52 RPS15A RAD51 CRIPT CDKL5 SMC3 RBBP8 SHH FGFR2 PIGB PCNT TP63 RECQL4 DPF2 LMNB2 GPC4 TBX5 PGAP2 PAK3 LETM1 EIF4A3 FANCD2 BMPR1B FLNA WNT7A GNAS RPL11 PDE4D MECP2 GJA1 CRKL RUNX2 EIF2AK3 PKDCC CHST11 PIGS WDR19 AGTR2 WIPI2 SMARCD1 SCN2A RPL10 RPS10 MAPK1 CNKSR2 PSMD12 DYNC2LI1 DMXL2 ZBTB20 IFT57 PTCH1 TFAP2B MYCN GNAO1 SLC25A24 NSUN2 CANT1 ZNF41 PIGY FGD1 RPS24 FGFR3 SLC9A7 ACP5 DVL1 RPS28 FRMPD4 CHN1 ATP6V1B2 BMP2 KMT2D SMARCE1 ARID1A RPL18 CXorf56 NOTCH2 BMP4 PIK3C2A STXBP1 CUL7 IGF2 UBE2T SMARCC2 RPL5 MAD2L2 CWC27 AIFM1 TBL1XR1 FTSJ1 KNSTRN EDA HCFC1 RAD21 SMARCB1 ZMPSTE24 POC1A ALOX12B RPS6KA3 PGAP3 HOXA13 ARSL COX4I1 REV3L ALMS1 PIGV FZD2 APC PIGN RMRP ARID1B KIF15 WDR35 FLNB MEGF8 INTU FBN1 ESCO2 CCDC22 RPL35 RPL15 RPL31 SEMA3E DLG3 PNKP NIN ASAH1 KDM5C BCR PIK3CD ADAMTS10 MAFB SMAD4 ZMIZ1 LTBP2 SETD5 RPL26 CHD7 LRP4 SON SUFU PTHLH USP9X SMARCA4 FANCL MCTP2 SMOC1 PIGL BHLHA9 NEPRO CHRNG ACVR1 MED12 NEUROD2 KCNN3 OFD1 ACSL4 NEK1 TBX3 IRX5 PTCH2 DLK1 RPL27 DLL4 RAC1 CNOT2 NIPBL FANCA PCYT1A MIR17HG ABCC9 ZNF81 SIN3A CHST3 RSPO2 NXN PIGP RPS17 BRCA2 VPS35L SYP TRIM8 PORCN JAG1 ALOXE3 MID2 SOX11 IFT43 PIGO FIG4 ACTL6B ZNF711 SVBP RPL35A MEG3 RPS7 KMT2A RTL1 TFAP2A CLCN4 ABCA12 FANCF ALG13 HMGA2 PLXND1 PTCHD1 CTBP1 TSPAN7 RAB39B FGFRL1 DOCK6 DOLK RPS26 MAP3K7 ZBTB16 CASK USP27X ARX RPS29 EDA2R PLAG1 EVC2 TCTN3 FANCG IL1RAPL1 CDKN1C RPS27 STAMBP HP_SMALL_PLACENTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PLACENTA PLAG1 ZMPSTE24 IGF2 MUSK CDKN1C HMGA2 PHGDH LMNA IGF1 HP_LARGE_PLACENTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_PLACENTA ZMPSTE24 RTL1 MEG3 DLK1 LMNA MKS1 TTC37 HP_REDUCED_PANCREATIC_BETA_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_PANCREATIC_BETA_CELLS EIF2AK3 ABCC8 PDX1 INS KCNJ11 GCK STAT3 HP_HYPOMINERALIZATION_OF_ENAMEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMINERALIZATION_OF_ENAMEL ODAPH WDR72 ENAM DLX3 PHEX RELT HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH ENAM SLC13A5 RELT ITGB6 FAM20A ROGDI HP_ADVANCED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_ERUPTION_OF_TEETH BCL11B INSR RPS6KA3 GLI3 EVC C2CD3 LMNA KDM6A KDF1 SPECC1L MKS1 CEP120 ADNP JUP DSP POLR3A KMT2C CREBBP AMER1 CILK1 NFIX EHMT1 FAM20C NSD1 PTH1R KRT17 ZMPSTE24 INTU KRT16 EVC2 NEK1 FGFR2 DHCR7 KRT6B EP300 KRT6A FLNA HP_ABNORMALITY_OF_DENTAL_ERUPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_ERUPTION INSR RPS6KA3 GLI3 TCF4 ERCC4 EVC C2CD3 WNT5A FGFR1 KDM6A KCNH1 DMD MKS1 CEP120 ATP6V0A2 SH3PXD2B GDI1 LMNA BCOR ELMO2 FGD1 TWIST2 FAM20A FLII ARID1B SBDS TCIRG1 CYP27B1 AMER1 ERCC6 IDS RAI1 TNFSF11 LIG4 CDH11 THRA OCRL FAM20C HDAC8 BMP4 NSD1 ARHGEF6 TBC1D24 ZEB2 RIC1 SETBP1 PIK3R1 TNFRSF11A MSX1 NAA10 IKBKG SEC23A ZMPSTE24 SEC24D DMP1 UBR1 GNAS PTHLH TGFB1 EP300 STAT3 SEMA3E GLI1 ADAMTSL1 DLG3 FLNA APC PRKAR1A GDF5 ROR2 BCL11B SOX4 FGF10 PDE4D FAM111A IGF1 DEAF1 KDF1 SPECC1L UPF3B SMC1A ADNP SETD5 DSP GHR DLX4 USP9X FGFR2 IQSEC2 CREBBP CTSK TP63 MMP2 SMARCB1 SFRP4 TRIO ERCC1 SRP54 OBSL1 ERCC8 EHMT1 EDNRA IRF6 CDH1 CCBE1 ANAPC1 SETD2 PTH1R CCDC8 CYP2R1 MED12 INTU EVC2 ACSL4 CHST3 NEK1 FGFR3 ENPP1 DHCR7 KRT17 SNX10 ARHGAP29 NPHS1 SMC3 RECQL4 ADAMTS3 NIPBL TRPS1 ZNF81 PAK3 JUP STX16 IFIH1 MYSM1 POLR3A SYP MECP2 PORCN CILK1 DLG1 NECTIN1 SMCHD1 MID2 RUNX2 SLC13A5 APC2 AGTR2 ZNF711 GJA1 KRT16 DNAJC21 CUL7 RAB23 CNKSR2 KMT2A SNX14 POLR3B DYNC2LI1 LONP1 ANTXR1 TFAP2B SUOX ABCA5 CLCN4 ALG13 NSUN2 AMMECR1 CLCN7 ZNF41 TRIP11 SH3BP2 PTCHD1 EFL1 CHD7 ATRX TSPAN7 RAB39B MAP3K7 KAT6B RHOA SLC9A7 FAT4 KCNJ2 ACP5 DVL1 FRMPD4 KMT2C FLNB USP27X ARX FGF3 CXorf56 GJB6 NFIX VDR EDA2R PDGFRB SLC39A13 IL11RA KCTD1 IL1RAPL1 SLC29A3 GJB2 KRT6B FTSJ1 SP7 EDA HCFC1 PTCH1 RAD21 HOXD13 P4HB KRT6A HP_HYPOPLASIA_OF_DENTAL_ENAMEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_DENTAL_ENAMEL KRT14 GTF2H5 FGF10 ATR LAMB3 ITGB4 COL17A1 PEX1 GALNT3 ITGB6 FGFR2 LAMC2 ERCC4 ERCC3 RNF113A NF1 PCNT ERCC6 IFT122 EP300 ERCC8 DDX59 AMELX STX16 RHOA COG6 NECTIN4 KCNJ2 NUP133 GNAS ALDH3A2 TTC7A CREBBP FLNB CYP27B1 COL7A1 PORCN ERCC1 ITGA6 VDR GJA1 FAM20C PIK3C2A MPLKIP RUNX2 GTF2E2 ACP4 AIRE CYP2R1 ODAPH GRHL2 DNAJC21 OCRL LAMA3 FGFR3 AMBN LONP1 ROGDI CLDN1 PLEC ERCC2 OFD1 TARS1 MMP1 HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION GP1BA F2 F10 SERPINE1 F8 GP1BB MCFD2 LMAN1 F11 GP9 F5 F13A1 F13B HP_ATROPHY_OF_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_OF_ALVEOLAR_RIDGES CTSC C1S C1R ELANE LYST HP_WIDELY_SPACED_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_PRIMARY_TEETH ERCC6 RNF113A ERCC8 ERCC1 ERCC4 HP_SINGLE_MEDIAN_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_MEDIAN_MAXILLARY_INCISOR SHH TGIF1 TDGF1 NODAL ZIC2 GLI2 CDON FGFR1 STAG2 PTCH1 DLL1 FGF8 GAS1 DISP1 FOXH1 SIX3 EVC2 CNOT1 SMC1A ANKRD11 EVC BCOR SUFU HP_PREMATURE_LOSS_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH C1S C1R CLCN7 FIG4 CTSC PRKD1 EDARADD EDAR TRAF6 VDR ALPL COL3A1 GJA1 TCIRG1 SNX10 WNT10A CSTB KDF1 FERMT1 VAC14 TNFSF11 HP_SUPERNUMERARY_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_MAXILLARY_INCISOR NECTIN1 TP63 IRF6 NHS MSX1 HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH ERCC6 UBR1 ERCC8 ERCC1 ERCC4 HP_PERSISTENCE_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_PRIMARY_TEETH SOX4 RHOA EHMT1 KCNJ2 STAT3 FAM111A ZMPSTE24 TFAP2B PTH1R CTSK TNFSF11 ATRX FLNA LMNA BCOR RAB23 HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS TP63 NEK1 IRF6 ARHGAP29 BMP4 CDH1 WNT10A DLX4 MSX1 DLG1 NECTIN1 HP_AGENESIS_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_PERMANENT_TEETH C1S RIPK4 SATB2 C1R DVL3 EP300 UBR1 WDR35 PLEKHM1 WNT10A KCTD1 MSX1 LRP6 OFD1 CREBBP MESD RECQL4 RAB23 HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH SMCHD1 FLNB MAP3K7 PTH1R TCF4 HP_PREMATURE_LOSS_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH CAT RSPO1 ALPL ELANE TP63 HP_IRREGULAR_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_FEMORAL_EPIPHYSIS RNU4ATAC RPL13 COL11A1 UFSP2 COL2A1 CDC6 COL9A1 ADAMTSL2 HP_CRUMPLED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRUMPLED_LONG_BONES COL1A2 LRP5 SEC24D P4HB CRTAP COL1A1 HP_LIMITED_ELBOW_FLEXION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_FLEXION PTH1R GPC6 STXBP1 MYOT KCNK9 SLC26A2 LMX1B FZD2 CHST3 HP_KNEE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_FLEXION_CONTRACTURE TELO2 GFPT1 PLOD2 TPM3 MYL2 DPAGT1 PIGY LIFR ITGA7 FKBP10 SCARF2 C19orf12 COL12A1 FBN2 UNC80 BAG3 LGI4 MYH3 ERCC6 COL6A2 SDHD ALG2 CNTNAP1 GMPPB ERLIN2 KAT6B TRPV4 TRIM2 PSAT1 KY TPM2 ACTA1 SDHAF1 PIEZO2 SDHA ATP6V1E1 COL6A3 CPT2 COL6A1 ANKLE2 NALCN FDFT1 MAP3K20 ESCO2 PTH1R FLNA SLC39A8 RPL10 PTDSS1 ERLIN1 GLI3 SLC18A3 PSTPIP1 DHX16 NT5C2 SELENON PIK3R2 BICD2 RTTN RNU4ATAC HACD1 SDHB MYO9A ALG14 ZBTB20 GJB2 SRD5A3 DPM1 GNPTAB DDR2 SVIL SIK3 HP_SHORT_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LOWER_LIMBS ALPL NOG MMP13 PPIB SLC26A2 ARL6IP6 HP_OVERTUBULATED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERTUBULATED_LONG_BONES ATP6V1B2 KCNH1 ZMPSTE24 KCNN3 LMNA HP_INCREASED_DENSITY_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_DENSITY_OF_LONG_BONES STX16 MTAP CA2 TGFB1 ANO5 SOST GNAS TNFSF11 SETBP1 FLNA HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM MECOM COLEC11 COLEC10 MASP1 IFITM5 HOXA11 HP_BROAD_FEMORAL_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FEMORAL_NECK COMP SLC39A13 UFSP2 ACVR1 ARCN1 MATN3 CANT1 RAB33B HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY CFAP410 KIAA0586 COL10A1 MIR140 SRP54 SBDS UFSP2 TRPV4 CSPP1 DNAJC21 HP_PATELLAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_APLASIA CDC45 WNT7A LMX1B CHRNG RECQL4 ANAPC1 CDT1 KAT6B SHOX CDC6 ORC1 ESCO2 GMNN LMBR1 DONSON BHLHA9 ORC6 STXBP1 TBX4 RBM8A ORC4 HP_INCREASED_LAXITY_OF_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LAXITY_OF_ANKLES COL6A1 COL6A2 MFN2 COL6A3 GLI3 COMP PYCR2 HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS RSPRY1 RET SRP54 SBDS EFL1 DNAJC21 PCNT HP_ANKLE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_FLEXION_CONTRACTURE RPL10 PNPT1 SPTBN4 ANO5 DAG1 SETD2 TPM3 COL6A3 MYL2 NT5C2 ITGA7 DDR2 APC2 FKBP10 C19orf12 COL12A1 SELENON LGI4 TOR1AIP1 ERLIN2 RTTN COL6A2 KLHL9 NEB ESCO2 HACD1 PSAT1 NSD1 HUWE1 ACTA1 TPM2 CAPN3 FIG4 COL6A1 MMP2 MAP3K20 SPG11 DPM1 DYRK1A FLNA SVIL HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES KIF7 C1S IRF6 GJA1 BRF1 C1R RBM10 ELANE CTSC LYST SNRPN GPC3 TBC1D24 TBX15 FIG4 EVC FAM149B1 KIAA0753 GPC4 SH3BP2 GNPTAB DHCR7 SETBP1 ASXL1 CD96 CPLANE1 TMEM216 NTRK1 TCTN3 PDE6D ZC4H2 ARX RERE OFD1 DHCR24 EVC2 DIS3L2 VAC14 HP_ABNORMALITY_OF_THE_DENTAL_PULP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTAL_PULP USB1 PEX6 GJA1 BRF1 TINF2 OCRL DLX3 IFT43 SMOC2 NPM1 GALNT3 EDA DEAF1 NOP10 TP63 PEX1 WDR19 IQSEC2 LRP6 COL1A1 TERC LAMB3 IFT122 IFT52 FAM20A CTC1 NEK1 COL5A2 WRAP53 PARN COL5A1 RTEL1 FLII NHP2 RAI1 NF1 WDR35 FGF3 DKC1 DSPP TERT HP_PREMATURE_LOSS_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_TEETH RSPO1 SRP54 ELANE CLCN7 CDH11 GFI1 ZMPSTE24 TNFRSF11B EDARADD EDAR TERC TRAF6 VDR AEBP1 PIGT SH3PXD2B GJA1 TCIRG1 WNT10A TNFRSF11A SLC35C1 COL3A1 KRT14 KDF1 CTSC TERT VAC14 TNFSF11 C1S C1R FIG4 RUNX2 CAT PRKD1 TINF2 SEC23A ALPL TP63 POLR3A NOTCH2 LMNA RBM28 NTRK1 SNX10 CSTB DKC1 FERMT1 HP_ABNORMALITY_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRIMARY_TEETH SOX4 FGF10 CLCN7 UBR1 ERCC6 SNRPN FAM111A FGFR2 DEAF1 ERCC4 EDARADD EDAR TRAF6 PTH1R VDR ATRX BCOR RHOA KCNJ2 STAT3 FLII GJA1 HNRNPK TCIRG1 WNT10A MSX1 KDF1 ERCC1 RAI1 VAC14 TNFSF11 FLNA ERCC8 C1S RNF113A C1R EHMT1 EDNRA ADAMTS2 RUNX2 B4GALT7 FIG4 CTSC PRKD1 IQSEC2 PURA RAB23 ALPL FGFR3 COL3A1 ZMPSTE24 SNX10 CSTB TFAP2B CTSK FERMT1 TMCO1 LMNA HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY KCNMA1 CLIP2 RPS6KA3 CDH11 WNT10A CHSY1 MGAT2 CDH3 CDH1 TP63 TONSL TCIRG1 IFT122 LRP6 REV3L LAMB3 NHS ATP6V0A2 KDM6A AMELX BCOR NECTIN4 MYT1L DLX3 RTEL1 FLII PIGL MAPRE2 MAPK1 CTNND1 MLXIPL TRMT1 KDF1 KANSL1 ACTL6B WDR35 CKAP2L RAI1 TERT B3GALT6 C1S FBXW11 C1R OCRL FAM20C COL11A1 FOXC1 BMP4 ADAMTS2 TBC1D24 MED13 GTF2IRD1 GTF2I DNAJC21 VPS13B MSX1 EDAR NAA10 FGFR1 IKBKG SEC23A ACTL6A TANC2 RFC2 UBR1 WHRN HEPHL1 EVC USH2A EP300 VPS51 GLI1 NECTIN1 HRAS IFT140 B3GLCT FGF10 BRF1 TBL2 DHODH FBN1 TFAP2A DOCK3 SNRPN DDX6 DEAF1 EYA1 PRKACA ADGRV1 RBBP8 WNT10B RUSC2 GHR DLX4 NHP2 CREBBP CTSK CTCF ORC1 BCL11B SATB2 AXIN2 LIMK1 IRF6 ANKRD11 CCBE1 ANAPC1 GRIA3 NTNG1 TCF20 CHST3 FGF3 CCDC47 IQSEC2 ATP6V1B2 PURA EVC2 DHX37 SMARCAL1 CTC1 NEK1 BRCA1 FGFR3 COL3A1 WRAP53 SMOC1 KCNK9 DHCR7 CSTB ARHGAP29 MED12 ZMIZ1 MBD5 DKC1 EDARADD PEX6 RECQL4 NOP10 SMOC2 GALNT3 ADAMTS3 FGFR2 PCNT POLR1C PITX2 TRPS1 SUMO1 TERC PIGA NRAS EIF2AK3 KMT2E SMC3 PDZD7 CACNA1C EDA IDS PLEKHM1 PIK3R1 DLG1 MYO7A USB1 PAX9 GJA1 KAT6B IFT43 SVBP P4HB B3GAT3 SH3BP2 WDR19 ZEB2 ALX4 NFKBIA CDK10 PQBP1 TWIST2 PARN DYNC2LI1 LONP1 CA2 WDR4 IDUA KRAS UBE3B TINF2 PRKACB PCGF2 NPM1 PLXND1 RLIM TRAF6 BPTF TGFA SLC25A24 TSPEAR IFT52 MCOLN1 RHOA FAT4 ELN KMT2D PSMD12 LTBP3 SIX1 TCOF1 BCORL1 BAZ1B EDA2R PIK3C2A DPF2 PEX1 PRKD1 ADAMTS10 ANTXR2 POLR1D PORCN WDFY3 CLCN7 TRAPPC4 FARS2 TMCO1 HP_ABNORMAL_NUMBER_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_TEETH CLIP2 ARV1 NODAL UBR1 ANOS1 PUF60 TRAK1 WNT10A STAG2 EVC XYLT1 IFT122 DSP KDM6A LRP6 GABRG2 WNT5A NHS BCOR SLC1A2 SIX3 TRMT10A DISP1 CEP152 RTEL1 PROKR2 CTNND1 MLXIPL KDF1 CREBBP TRPS1 IL17RD NECAP1 C1S POLR3B CPLX1 RBBP8 OCRL BMP4 ADAMTS2 IRF6 CENPJ KCTD1 GTF2I SCN8A NSD2 PIK3R1 AXIN2 MSX1 FGFR1 C8orf37 CLDN1 TP63 EP300 GLI1 CREB3L1 NECTIN1 SMC1A CEP85L LAMB3 RPS23 GDF5 SHH B3GLCT FGF10 LAMA3 TBL2 DLX3 TFAP2A GABRA2 TRIM37 GAS1 NELFA HESX1 RIPK4 WNT10B PPP1R15B KCNE5 ATP6V1B2 CDH3 DYNC2LI1 CDON FGF8 ERCC1 MSX2 SATB2 C2CD3 LIMK1 APC PTCH1 DLL1 SCN3A DCAF17 KCNA2 PLK4 CACNA1A DHX37 CTC1 ARL6 PITX2 DHCR7 CENPE FZD2 CAMTA1 ARHGAP29 YWHAG DVL3 DKC1 ZIC2 TDGF1 KIF1C RECQL4 FGFR2 DCC POLR1C HSPG2 SUMO1 TERC TGIF1 SEMA3A LETM1 EIF4A3 KCNB1 HMGA2 POLR3A FLNA DLX4 OFD1 DLG1 PAX9 AARS1 GJA1 RUNX2 GRIN2D CTSC WDR19 NFKBIA KCNN3 WDR11 RAB23 KCNH1 GLI2 AKT1 EVC2 NSMF EDARADD SYNJ1 NUS1 SLC25A24 NPM1 KREMEN1 FGD1 EDAR TSPEAR NSD1 KCNJ2 PERP UBA5 KMT2D TACR3 LTBP3 CNKSR2 ELN PIK3C2A SLC39A13 LAMC2 GABRA5 NOP10 HNRNPK NDNF ERCC6 SLC10A7 ACTL6B DNM1 KISS1R IKBKG ERCC8 LMNA HSPA9 TBX3 RPS6KA3 CHSY1 CDH1 ERCC4 NTRK2 REV3L ACSL4 ALMS1 FGF17 ATRIP RMRP PIGL AMMECR1 ATR GABRB2 WDR35 CKAP2L TRPV3 FEZF1 LEMD3 ANKRD11 TERT C1R FOXC1 GRHL3 GTF2IRD1 SZT2 DNAJC21 VPS13B PTEN STXBP1 RFC2 DPP6 RBM28 PTHLH FLNB CLTC RNF13 LRP4 HCN1 CDK19 GHR CNOT1 SYNGAP1 ITGB4 ATP6V1A BCL11B CCBE1 ANAPC1 SETD2 TRIO NEPRO FGF3 DVL1 NAA10 EDA MAF ACOX1 NEK1 PRKAR1A FGFR3 WRAP53 HS6ST1 NHP2 IRX5 PLEKHM1 TRAIP GREM2 FOXH1 CCDC141 ADAMTS3 FGF12 DDX59 CHD7 NXN PCNT BBS1 PUS7 PORCN USB1 IFT43 DALRD3 SLC13A5 SH3BP2 APC2 CCDC28B PPP3CA NKX2-1 AP3B2 MBTPS2 PARN ZMPSTE24 MTX2 CTSK BLM SUFU EXT1 TINF2 PRKACB PLXND1 HUWE1 TRAF6 PTH1R CTBP1 TGFA IFT52 MESD SOX10 ROR2 RHOA FGFRL1 FAT4 CYFIP2 WWOX MAP3K7 DYRK1A CACNA1B PPP2R3C TCOF1 BAZ1B FLRT3 DUSP6 SPRY4 EEF1A2 IL11RA COL17A1 GRHL2 POP1 PARS2 PROK2 POLR1D DHDDS HP_AGENESIS_OF_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_INCISOR EDA RIPK4 B3GLCT NEK1 EIF4A3 DLX3 IRF6 BMP4 CDH1 DLX4 BCOR GLI2 TP63 ARHGAP29 NAA10 MSX1 DLG1 NECTIN1 BLM HP_ABNORMALITY_OF_THE_DENTAL_ROOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTAL_ROOT USB1 PEX6 GJA1 BRF1 TINF2 OCRL DLX3 IFT43 SMOC2 NPM1 GALNT3 CDH11 EDA DEAF1 NOP10 TP63 PEX1 WDR19 TONSL IQSEC2 LRP6 TERC LAMB3 IFT122 IFT52 BCOR CTC1 NEK1 WRAP53 PARN RTEL1 FLII NHP2 RAI1 WDR35 FGF3 DKC1 TERT HP_BOWING_OF_THE_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_ARM WNT7A B3GALT6 COL11A1 MMP13 GLI3 B2M P3H1 PCNT FLNA SCARF2 RECQL4 SHOX FLNB KDELR2 FGFR2 CHST3 POR RNU4ATAC RSPO2 VPS35L EXT2 NPR2 FGF23 TMEM67 EXT1 HOXA11 GDF5 HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES TP53 KIAA0586 CHEK2 COL10A1 MIR140 SBDS RB1 AIFM1 TRPV4 FGFR3 TRIP11 PHEX CFAP410 COMP SRP54 UFSP2 RASA1 EZH2 CSPP1 SETBP1 DNAJC21 HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA INPPL1 WNT7A ATR FLNB GDF5 TBX15 PTH1R FLNA SHOX SF3B4 IFT122 COL11A1 INTU RBM8A MET SLC35D1 SOX9 EIF4A3 DYNC2H1 SMOC1 BMPR1B LMBR1 BHLHA9 AMER1 ZBTB16 GPC6 AFF4 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS WDR35 COMP SALL4 PUF60 CDH11 SOX4 HTT COL11A1 NOG ATP7A DDRGK1 IFT122 PRMT7 SF3B4 KCNH1 MAP3K7 ARID2 DLK1 MGP LMBR1 IFT140 FGFR3 EOGT NOTCH1 MBD5 TRPS1 FGFR1 NTNG1 FGFR2 LIG4 MAGEL2 FBXW11 B3GALT6 CPLX1 HDAC8 ADAMTS2 GLI3 SNRPN RBPJ TBC1D24 TBX15 IFT172 NSD2 DHCR7 ASXL1 HBA2 CDT1 COL2A1 ACTL6A RNU4ATAC KCNJ8 NDN RIPK4 DYNC2I1 PDE4D TTC21B CHD7 ROR2 B3GLCT INPPL1 TELO2 LMX1B SHOX DOCK3 GPC3 RAG2 SPECC1L SMC1A NELFA CDC6 PHF6 ACVR1 ARHGAP31 DYNC2H1 DLX5 GPX4 HERC2 BMPR1B DYNC2I2 RMRP COG4 CTSK MASP1 GPC6 IHH HINT1 ADA C12orf57 ORC1 PWAR1 VAC14 GDF5 MSL3 SALL1 WNT10B TCF20 CCDC47 UBE2A INTU MMP13 MET SHH ADAMTSL2 ARL6 GMNN SOX9 IFT52 NPAP1 CERT1 SIL1 FKBP10 SMC3 SNORD116-1 CHRNG TBCE RECQL4 USP7 IGF1R PAPSS2 DPF2 GPC4 BPNT2 RBM8A HDAC6 LETM1 EIF4A3 KMT2E DNMT3A MECP2 RAG1 POLR3A FLNA MKRN3 BHLHA9 SNORD115-1 MEG3 WNT7A GNAS CDC45 RTL1 OFD1 DYM IFT80 RUNX2 CHST11 DYNC2LI1 PIGS SMARCD1 RAB23 KCNAB2 HBA1 DONSON EXOC6B GRIP1 STXBP1 SRY CAMK2G IDUA ZSWIM6 NSUN2 AMMECR1 CANT1 FGD1 OCA2 CDKL5 MATN3 ALG12 SLC35A2 KAT6B GABBR2 KCNJ2 GJA1 BMP2 PSMD12 WDR81 ARID1A NOTCH2 PRKAR1A GABRD SLC39A13 WDR19 COG1 DCHS1 SMARCC2 ORC4 SLC35D1 SLC10A7 LTBP3 AIFM1 TBL1XR1 FN1 AGPS PTH1R WDFY3 RAD21 PHYH HOXD13 SMARCB1 TRAF3IP1 PIK3C2A RAB33B RERE POC1A ALOX12B TBX3 TCF4 CHSY1 PEX5 IL7R HOXA13 COX4I1 FLNB ALMS1 TBX4 PIGV APC USP9X MYT1L CTC1 SLC26A2 PIGL ARID1B AMER1 NANS TRMT1 FBXO11 MAPK8IP3 ACTL6B MMP9 MED13 HYLS1 CFAP410 TANC2 TRRAP IL2RG PTHLH EZH2 XYLT1 DYRK1A ASAH1 KDM5C ATR CENPE ORC6 FBN1 RAB3GAP2 DDX6 LIFR RSPRY1 TNNT3 PPIB SMAD4 ZMIZ1 PITX1 SMARCE1 PIGN SETD5 LRP4 SIM1 GHR SMARCA4 CHUK FAT4 SKI LMNA SMOC1 PPM1D ANAPC1 KCNN3 SATB2 NEK1 FAM50A TUBB3 TBX22 CHD4 VPS13B ALPL FMR1 DLL4 TAPT1 SPART ABCC9 CUL4B CHST3 HDAC4 COL3A1 TRPV4 VPS35L BBS1 PORCN SMARCA2 ALOXE3 SOX11 SVBP LAS1L FIG4 BGN CCDC28B NIPBL TRIP11 SON ARL6IP6 CCBE1 PRDM16 FBXL4 ESCO2 KMT2A CEP120 MTX2 TMEM67 WASF1 TCTN3 SLC35C1 RLIM GALNT2 HUWE1 CTBP1 BPTF SHROOM4 DACT1 PWRN1 KAT6A FGFRL1 DOCK6 TRAPPC2 DOLK FLI1 PEX7 TWIST1 ZBTB16 AFF4 BCORL1 NGLY1 POP1 MYCN IFNGR1 KLHL7 NPR2 TP63 TRAPPC4 DCLRE1C HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET WDR35 SALL4 PUF60 SOX4 HTT NOG IFT122 PRMT7 SF3B4 KCNH1 MAP3K7 ARID2 DLK1 MGP LMBR1 IFT140 FGFR3 EOGT NOTCH1 MBD5 TRPS1 FGFR1 NTNG1 FGFR2 LIG4 MAGEL2 FBXW11 B3GALT6 CPLX1 HDAC8 ADAMTS2 GLI3 SNRPN RBPJ TBC1D24 IFT172 NSD2 DHCR7 ASXL1 HBA2 ACTL6A KCNJ8 NDN RIPK4 DYNC2I1 PDE4D TTC21B CHD7 ROR2 B3GLCT TELO2 SHOX DOCK3 GPC3 RAG2 SPECC1L SMC1A NELFA PHF6 ACVR1 ARHGAP31 DYNC2H1 DLX5 GPX4 HERC2 DYNC2I2 RMRP COG4 CTSK MASP1 HINT1 ADA C12orf57 PWAR1 VAC14 GDF5 COL2A1 MSL3 SALL1 WNT10B TCF20 CCDC47 UBE2A ADAMTSL2 ARL6 IFT52 NPAP1 CERT1 SIL1 SMC3 SNORD116-1 TBCE USP7 IGF1R DPF2 GPC4 BPNT2 HDAC6 LETM1 KMT2E DNMT3A BMPR1B MECP2 RAG1 FLNA MKRN3 SNORD115-1 MEG3 WNT7A GNAS RTL1 OFD1 DYM IFT80 CHST11 DYNC2LI1 PIGS SMARCD1 RAB23 KCNAB2 HBA1 GRIP1 SRY CAMK2G RECQL4 NSUN2 CANT1 FGD1 OCA2 CDKL5 IHH GABBR2 SOX9 KCNJ2 GJA1 BMP2 PSMD12 WDR81 ARID1A NOTCH2 PRKAR1A GABRD WDR19 COG1 DCHS1 SMARCC2 STXBP1 LTBP3 TBL1XR1 PTH1R WDFY3 RAD21 INPPL1 PHYH HOXD13 SMARCB1 RAB33B RERE POC1A ALOX12B TBX3 TCF4 CHSY1 IL7R HOXA13 COX4I1 FLNB ALMS1 PIGV APC USP9X MYT1L PIGL ARID1B TRMT1 FBXO11 MAPK8IP3 ACTL6B MED13 TANC2 TRRAP IL2RG PTHLH EZH2 DYRK1A ASAH1 KDM5C CENPE FBN1 RAB3GAP2 DDX6 TNNT3 COL11A1 SMAD4 ZMIZ1 SMARCE1 PIGN SETD5 LRP4 SIM1 GHR SMARCA4 RNU4ATAC FAT4 SKI LMNA SMOC1 PPM1D EXOC6B KCNN3 SATB2 NEK1 FAM50A TUBB3 TBX22 VPS13B FMR1 DLL4 SPART RSPRY1 ABCC9 CUL4B HDAC4 COL3A1 VPS35L BBS1 PORCN SMARCA2 ALOXE3 SOX11 SVBP LAS1L FIG4 BGN SLC26A2 CCDC28B TRPV4 NIPBL TRIP11 SON CCBE1 PRDM16 FBXL4 KMT2A CEP120 WASF1 SLC35C1 RLIM GALNT2 HUWE1 CTBP1 BPTF SHROOM4 DACT1 PWRN1 KAT6A FGFRL1 DOCK6 DOLK FLI1 PEX7 TWIST1 BHLHA9 BCORL1 NGLY1 MYCN KLHL7 NPR2 TP63 TRAPPC4 DCLRE1C HP_APLASIA_HYPOPLASIA_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA WNT7A FGF10 PDE4D DHODH SALL4 TBX3 FGFR2 FANCI SCARF2 RECQL4 SHOX FLNB XRCC2 RBM8A OBSL1 BRCA1 BRCA2 CHST3 APC CHD7 LRP4 FANCD2 DYNC2H1 FANCC RAD51C LMBR1 BHLHA9 SLX4 ZBTB16 TBX5 VPS35L IHH BRIP1 ESCO2 RPL26 EXT1 JAG1 GDF5 FANCB COL2A1 B2M BMPR1B FANCL CCDC8 FANCE SF3B4 FANCM UBE2T RFWD3 FANCG CUL7 FANCA FGFR3 PALB2 MAD2L2 PIGT EXOC6B ERCC4 RAD51 SEMA3E EXT2 PRKAR1A FANCF HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS WDR35 KDM1A KDM6A EXT2 COMP PUF60 CDH11 SOX4 XYLT1 WNT5A IFT122 SF3B4 RMRP KCNH1 HHAT DMD RB1 BRCA1 GDI1 MGP KCNA1 GDF5 MTOR GPC6 EOGT NOTCH1 PIGQ TRPS1 FGFR1 FGFR2 LIG4 SIK1 MAGEL2 B3GALT6 KIF22 HDAC8 GLI3 SNRPN ARHGEF6 NSD2 DHCR7 FANCM ADA2 GPX4 COL10A1 TNNI2 RNU4ATAC ERCC4 KCNJ8 NDN LMBR1 GLI1 BPTF HOXD13 LMNA ROR2 PDE3A MECOM FGF10 PALB2 PDE4D DHODH SEM1 SHOX GPC3 CHRNA1 XRCC2 UPF3B ADNP RFWD3 NELFA DYNC1H1 ACAN HERC2 GGCX SALL4 DYNC2I2 IQSEC2 COG4 RAD51C MASP1 IHH ORC1 VAC14 OBSL1 EVC P3H1 MSL3 WNT10B CLCN7 SCN1B CCDC8 GATA1 SMARCA2 COL2A1 GMNN NPAP1 SIL1 RPS15A LRP4 RAD51 PCYT1A SMC3 SNORD116-1 SEMA5A RBBP8 DPH1 WRN KIFBP IGF1R RECQL4 BPNT2 RBM8A SIN3A PGAP2 EIF4A3 FANCD2 DYNC2H1 MKRN3 SNORD115-1 WNT7A RPL11 MECP2 RPS19 RTL1 DYM FBXL3 CRKL RUNX2 EIF2AK3 HDAC6 PIGS WDR19 WIPI2 SMARCD1 NOG RPL10 RPS10 CNKSR2 DONSON DYNC2LI1 EXOC6B ZBTB20 NHS RBPJ ALDH18A1 GNAS STX16 TRAPPC2 SLC25A24 RBM10 NSUN2 CANT1 TRIP11 OCA2 KCNJ2 DVL1 RPS28 EVC2 FRMPD4 FANCC CHN1 ATP6V1B2 FLNB BMP2 KMT2D WDR81 ARID1A DLK1 BMP4 PRKAR1A GJA1 FLNA SLC39A13 IFT80 PRMT7 CUL7 MACROH2A1 DCHS1 SMARCC2 RPL5 STXBP1 IGF2 GABBR2 MAD2L2 CWC27 AIFM1 TBL1XR1 AGPS FTSJ1 KNSTRN EDA HCFC1 ZMPSTE24 POC1A ALOX12B BMPR1B TBX3 HPGD PGAP3 PTDSS1 HOXA13 COX4I1 LTBP3 PIGV FZD2 CD96 NALCN APC USP9X PIGN PIGL SLX4 NANS FBXO11 SMC1A RIPK4 TBC1D24 INTU FBN1 IKBKG ESCO2 RPL15 TGFB1 RAI1 ZIC3 SEMA3E RPS6KA3 NIN BCR ATR PIK3CD UNC80 ZMIZ1 SMARCE1 TBCE SON CNOT3 SUFU LBR MCTP2 FGFR3 BHLHA9 NEPRO FANCE CHRNG ACVR1 SMAD4 NEUROD2 KCNN3 NEK1 KDM5C MRPS28 INPP5K FAM50A PTCH2 RPL27 FMR1 ERGIC1 CNOT2 RSPRY1 FANCA CRLF1 ZNF81 CUL4B CHST3 RSPO2 MYSM1 BRCA2 TBX5 TRIM8 PORCN RPL26 ALOXE3 SOX11 B2M ACTL6B TRPV4 CDK10 NIPBL FANCB RPL35A CCBE1 SLC26A2 PIGY RPS7 LONP1 TFAP2A DNMT3A CLCN4 ABCA12 FANCF ALG13 SATB2 PCGF2 HMGA2 PLXND1 GNPAT PTCHD1 IFT52 HDAC4 ZBTB16 CASK AFF4 PPP2R3C PIGO EDA2R ARX FANCL NGLY1 ANTXR2 TCTN3 CDKN1C TNNT3 STAMBP NPR2 TP63 ATP7A DPM1 PIGW HTT ARID2 BTRC FANCI TSR2 MEIS2 CHRND MBD5 NTNG1 CPLX1 BRIP1 KRAS DLX6 YY1AP1 SETBP1 MMP9 BCOR SLC6A17 FRAS1 B3GLCT TELO2 SLC25A22 PHF6 ARHGAP31 DLX5 EPS15L1 MAP3K7 CTSK PWAR1 TRIO SPECC1L HESX1 SNIP1 ADAMTSL2 NFIX FKBP10 CRIPT CDKL5 SHH USP7 PIGB PCNT GNPTAB DPF2 MMP13 LMNB2 GPC4 PEX7 GNAS-AS1 PAK3 LETM1 POLR3A MEG3 PKDCC CHST11 PSMD12 AGTR2 SCN2A MAPK1 DMXL2 IFT57 PTCH1 TFAP2B MYCN SRY CAMK2G GNAO1 ZNF41 FGD1 RPS24 ALG12 SLC9A7 ACP5 EXT1 RPL18 COL9A3 CXorf56 NOTCH2 PIK3C2A COG1 UBE2T CCNQ FGF9 PIGT PTH1R RAD21 INPPL1 KAT6B SMARCB1 RAB33B TCF4 CHSY1 CTNND2 ARSL REV3L ALMS1 EXTL3 ARID1B MAPRE2 KIF15 MAPK8IP3 MEGF8 HYLS1 TWIST2 PITX1 CCDC22 RPL35 RPL31 PTHLH GSC DLG3 COL9A2 PNKP DDR2 ASAH1 CENPE RAB3GAP2 SLCO2A1 ADAMTS10 MAFB PUM1 COL11A1 LTBP2 SETD5 CHD7 SIM1 SMARCA4 DVL3 CHUK FAT4 SMOC1 PPM1D ANAPC1 IFT81 MED12 OFD1 ACSL4 MYH3 IRX5 TUBB3 VPS13B DLL4 RAC1 SCARF2 MIR17HG ABCC9 NXN COL3A1 PIGP RPS17 VPS35L SYP PIK3R1 JAG1 MID2 IFT43 LAS1L FIG4 BGN ZNF711 SVBP WAC KMT2A FERMT1 DYNC2I1 GALNT2 HUWE1 CTBP1 SNRPB TSPAN7 RAB39B SHROOM4 PWRN1 MIR140 FGFRL1 DOCK6 DOLK RPS26 USP27X RPS29 PLAG1 TPM2 FANCG PHYH IL1RAPL1 COL11A2 RPS27 HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA WNT7A ZSWIM6 ORC6 CHRNG RECQL4 LMX1B SOX4 PRMT7 DPF2 ARID2 RBM8A TBX4 PITX1 SMARCE1 KAT6B SHOX CDC6 LMBR1 ARID1B SMARCA4 BHLHA9 CDC45 ARID1A ORC1 GDF5 SOX11 ANAPC1 CDT1 SMARCD1 SMARCC2 ORC4 ESCO2 GMNN DONSON FKBP10 STXBP1 SMARCB1 HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY COMP EXT1 SBDS COL2A1 COL1A2 RSPRY1 ATP7A PCNT TONSL TRPS1 SIL1 EP300 MATN3 EFL1 WNT5A COL9A1 CHST3 RNU4ATAC TRAPPC2 TRPV4 RINT1 EXTL3 CDC6 CREBBP IHH DVL3 UFSP2 SLC2A10 CSPP1 SRP54 DYM KIF22 RET B3GALT6 COL11A1 PIK3C2A SLC39A13 EIF2AK3 HSPG2 TREX1 COL9A2 DVL1 COL10A1 ACAN DNAJC21 COL9A3 MEG3 ADAMTSL2 GNPTG SMARCAL1 KIAA0586 PLOD3 RPL13 COL11A2 AIFM1 CCN6 RTL1 COL1A1 SLC26A2 FZD2 INPP5K TBX4 DLK1 IFT140 ADAMTS2 HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS LMBR1 WNT7A SALL4 ERGIC1 TBX3 FGFR2 FANCE NIPBL RECQL4 FANCA SF3B4 MMP13 SHH REV3L TBX5 RBM8A SLX4 BRCA1 FANCI SHOX NALCN APC EIF4A3 FANCD2 TRIP11 BRIP1 RPL26 FANCB GLI3 RBM10 RPS19 DONSON PITX1 FANCM MMP9 TNNI2 DHODH ESCO2 PALB2 FANCC TGFB1 ERCC4 ZIC3 SEMA3E PRKAR1A FANCF FGF10 ATR PDE4D PLXND1 MAFB XRCC2 ALG12 BRCA2 HOXD13 RFWD3 CHD7 LRP4 CHN1 FGFR1 RAD51C ZBTB16 IHH AFF4 FLNB TRIO GDF5 IFT81 FANCL TPM2 UBE2T MACROH2A1 CCNQ FANCG MYH3 FGFR3 MAD2L2 DHCR7 TNNT3 FKBP10 RAD51 NPR2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES DYM KIF22 XRCC2 GNPTAB EIF2AK3 EXOC6B LMBR1 WNT7A RSPRY1 RECQL4 COMP NANS TRPV4 SALL4 ALDH18A1 RBM8A HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES LMBR1 WNT7A SALL4 ERGIC1 TBX3 FGFR2 FANCE NIPBL SCARF2 RECQL4 FANCA SF3B4 FLNB MMP13 SHH REV3L TBX5 RBM8A SLX4 BRCA1 CHST3 FANCI SHOX NALCN APC EIF4A3 FANCD2 DYNC2H1 TRIP11 BHLHA9 VPS35L BRIP1 RPL26 EXT1 JAG1 FANCB GLI3 RBM10 B2M RPS19 DONSON PITX1 FANCM MMP9 TNNI2 CUL7 DHODH ESCO2 PALB2 FANCC EXOC6B TGFB1 ERCC4 ZIC3 SEMA3E EXT2 IHH PRKAR1A FANCF FGF10 ATR PDE4D PLXND1 MAFB XRCC2 OBSL1 ALG12 BRCA2 HOXD13 RFWD3 CHD7 LRP4 CHN1 FGFR1 RAD51C ZBTB16 AFF4 TRIO GDF5 COL2A1 IFT81 BMPR1B FANCL CCDC8 TPM2 UBE2T MACROH2A1 CCNQ FANCG MYH3 FGFR3 MAD2L2 PIGT DHCR7 TNNT3 FKBP10 RAD51 NPR2 HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY COMP FLNA SBDS RPS6KA3 COL2A1 ATP7A EVC PCNT RSPRY1 TONSL TRPS1 SIL1 WNT5A IFT172 COL9A1 CHST3 EIF2AK3 MGP IFIH1 LETM1 EXTL3 KIF15 COG4 UFSP2 CPLX1 DYM KIF22 COL11A1 RUNX2 BGN HSPG2 NSD2 CREBBP SRP54 TREX1 COL9A2 COL10A1 ACAN DNAJC21 COL9A3 MEG3 RAB23 GNPTG MATN3 KIAA0586 RPL13 RTL1 ATRX EP300 KCNH1 NKX3-2 IFT140 EVC2 EXT1 ATR SRCAP ERCC6 GNPAT COL1A2 TRIP11 RMRP CTBP1 EFL1 IHH RNU4ATAC FGFRL1 TRAPPC2 FGFR3 TRPV4 RINT1 GPX4 GDF5 CDC6 DVL3 SLC2A10 FLNB CSPP1 ERCC8 RET B3GALT6 PIK3C2A SLC39A13 SALL1 DVL1 ADAMTSL2 SMARCAL1 PLOD3 NEK1 PRKAR1A BMPR1B COL11A2 AIFM1 CCN6 IFT52 COL1A1 SLC26A2 MRPS28 FZD2 INPP5K NPR2 TBX4 DLK1 ADAMTS2 HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS NOG FLNA GDF5 SALL4 TBX3 GNPAT ATP7A FZD2 RECQL4 IFT122 FLNB SNRPB RBM8A ALG12 RNU4ATAC POLR3A MYSM1 AGPS LONP1 GPC6 LMBR1 TBX5 ZIC3 IHH GSC FANCB HP_CHRONIC_PULMONARY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_PULMONARY_OBSTRUCTION CYBC1 SEC24C DNAAF4 TBX1 MCIDAS NCF2 GLA HLA-DPB1 GP1BB PTPN22 ARVCF ALMS1 MYH7 RREB1 WIPF1 HLA-DPA1 SERPINA1 PRTN3 CARMIL2 CYBB NFKB1 COMT RAC2 WAS CYBA UFD1 HIRA JMJD1C BLM MMP1 NCF4 CTLA4 NCF1 HMOX1 HP_LARYNGEAL_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STRIDOR BRF1 PLP1 BTD TAF1 UBE3B ASAH1 HP_INTERSTITIAL_PNEUMONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_PNEUMONITIS FOXP3 TERC PLCG2 SFTPC TINF2 SFTPB RAG1 STAT5B TERT STAT3 HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION CSF2RA SLC7A7 MARS1 SFTPC SFTPB CSF2RB ABCA3 HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT SMPD1 BAP1 TRAF7 TERT SLC34A2 SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 PDGFB SMO HP_PULMONARY_LYMPHANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_LYMPHANGIECTASIA FAT4 SOX18 CCBE1 ADAMTS3 FOXF1 HP_CHRONIC_LUNG_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LUNG_DISEASE SHH ITCH TDGF1 NODAL GLI2 CDON STAG2 PTCH1 DLL1 FGF8 FCGR2A CFTR DISP1 TGIF1 FOXH1 TGFB1 SIX3 FOXE1 SERPINH1 LAT MINPP1 GAS1 AFF4 CSPP1 HABP2 RIPK1 FGFR1 ZIC2 LRRC56 CTCF KIAA0586 LRBA PEPD SMC1A SFTPB BLM HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY NME8 CLCA4 SPAG1 BNC1 SFTPA1 SMPD1 NOP10 MARS1 RPGR NUP107 CFAP300 BMPR2 FSHR PSMC3IP DNAH5 RSPH4A DNAAF5 GBA CAV1 DCTN4 CCR6 KIAA0319L CCDC151 HLA-DRB1 FARSB SFTPA2 STN1 ABCA3 CSF2RA IRF5 FAS MUC5B BTNL2 CCDC40 PARN HYDIN STX1A AP3D1 THOC2 HPS4 TERT CCDC114 DSP NR5A1 STAT3 FARSA LRRC56 COPA SP110 ATP11A TINF2 CCDC103 RTEL1 ZMYND10 CFAP221 AP3B1 CCNO DNAAF6 SPEF2 PRTN3 NKX2-1 CFAP298 ERF PRKCD LRRC6 DRC1 BACH2 TERC ITGA3 SFTPC STK36 POLR3H RSPH9 NEK10 SPIDR CCDC65 SFTPB DNAAF4 STAT5B DNAAF2 HPS1 ASAH1 PLEC RSPH1 GAS2L2 TTC12 GAS8 STXBP2 CSF2RB TTC25 FOXP3 IL1RN GATM EIF2AK4 RNF168 CASP10 NSMCE3 RCBTB1 HLA-DPA1 ARMC4 DNAL1 DNAH11 BMP15 SLC34A1 RAC2 NDUFAF6 DNAH9 NHP2 CCN2 COL3A1 CFTR CTLA4 DNAI2 DNAAF1 RASGRP1 FAM111B DNAH1 TGFB1 CYBC1 HLA-DPB1 MRPS22 DNAJB13 PTPN22 MCIDAS FAM13A SCARB2 STING1 DPP9 RAG1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 DKC1 EHHADH PLCG2 ZCCHC8 DNAAF3 FASLG UNC119 HP_RECURRENT_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PNEUMONIA JAK3 CR2 MTHFD1 ORC6 KCNJ6 RAC1 TBCD NBN NCF2 NCF1 EGFR CYBA CXCR4 BTK IL2RG CD19 GNPTAB RNF168 TK2 FCGR2A ALMS1 CFTR ICOS EXTL3 TGFB1 CARMIL2 RNU4ATAC TNFRSF13C CD27 SREBF1 TNFRSF13B CD3E STAT3 RAC2 MASP2 COL11A2 USB1 SLC35C1 DZIP1L PLOD1 ADA MED25 BLNK P4HTM CD247 CD3D CFAP410 IGLL1 CYBC1 SETBP1 AP3B1 CYBB FBLN5 PGM3 PURA PKHD1 TNFRSF11A WDR19 GAS8 WDR1 NKX2-1 CCDC114 LRBA FMO3 CD79B KPTN SMARCD2 LEP NFKB2 PEPD EFEMP2 IGHM DDR2 POLA1 HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE PRTN3 COL3A1 WAS HLA-DPB1 CTLA4 PTPN22 WIPF1 HLA-DPA1 HP_AIRWAY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AIRWAY_OBSTRUCTION NME8 GLA SPAG1 APC RPGR DNAAF4 CFAP300 ENG TBX1 DNAH5 NKX2-5 RSPH4A DNAAF5 CCDC151 ALMS1 WIPF1 SERPINA1 MGP CARMIL2 TBX20 COMT WAS CCDC40 HYDIN UFD1 ACTC1 VPS33A MYH6 CCDC114 CITED2 SCNN1A LRRC56 SEC24C CCDC103 MCIDAS NCF2 ZMYND10 CFTR CFAP221 CCNO DNAAF6 MYH7 RREB1 SPEF2 PRTN3 NFKB1 CFAP298 GATA6 LRRC6 DRC1 HIRA STK36 RSPH9 NEK10 CCDC65 DNAAF2 CYBC1 RSPH1 GAS2L2 TTC12 GAS8 TTC25 GP1BB ARVCF HLA-DPA1 ARMC4 DNAL1 DNAH11 CYBB RAC2 DNAH9 CYBA CTLA4 NCF1 DNAI2 TLL1 SCNN1G DNASE1L3 DNAAF1 DNAH1 HLA-DPB1 DNAJB13 PTPN22 SCNN1B GATA4 FOXJ1 OFD1 CCDC39 RSPH3 JMJD1C DNAI1 BLM MMP1 NCF4 DNAAF3 HMOX1 HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS ERCC2 LAMTOR2 TGFB1 GTF2H5 MPLKIP TARS1 GTF2E2 FCGR2A CFTR ERCC3 RNF113A HP_CARDIORESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIORESPIRATORY_ARREST SLC25A20 TSPYL1 SLC2A10 COL2A1 GPX4 KIT LAMP2 HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS DGCR8 DGCR6 ESS2 DGCR2 TBX1 HP_ACUTE_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_HEPATIC_FAILURE ACAD9 HADH MST1 FAH MEFV ITCH GFM1 LARS1 F5 CYC1 IL18BP EIF2AK3 ATP7B RINT1 TRMU PORCN CACNA1S JAK2 SH2D1A SCYL1 RYR1 XIAP TCF4 NBAS GPR35 MPV17 HLA-B IKZF1 HP_POLYCYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_LIVER_DISEASE PRKCSH SEC63 GANAB PKD1 LRP5 PKD2 BICC1 HP_LIPID_ACCUMULATION_IN_HEPATOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPID_ACCUMULATION_IN_HEPATOCYTES ETFA CYP7A1 VCP PPARG BCS1L LYRM4 PCK1 PCSK9 CYP19A1 CIDEC ACADM SURF1 EARS2 ALMS1 FARSB CAVIN1 LARS1 ABCG5 ACOX1 NDUFAF1 DNAJC19 HADH BSCL2 POLG LDLRAP1 TKFC PLIN1 DGUOK FARSA POLD1 CEP19 IARS1 ETFDH ADK ABCG8 AKT2 CAV1 ETFB CPT2 MARS1 SLC25A13 ATP6AP2 KCNAB2 PRDM16 CPT1A TARS2 ACADS POLR3A CBS MRPS7 MTX2 AGPAT2 PHKA2 HNRNPA1 APOB MPV17 HSD17B4 TYMP LIPE XRCC4 PMM2 MCCC1 ATP6AP1 DDOST FBP1 LMNA GPD1 LIPA NGLY1 TRAPPC11 PNPLA2 SAR1B VPS33A PCK2 TFAM LMNB2 RINT1 HNF1B HADHB NSMCE2 HMGCL MT-TN RRM2B PHKG2 LDLR SKI ACAD9 CLPB ABHD5 FOS HNRNPA2B1 GABRD SLC40A1 PGM1 APOE TMEM199 COX15 RMND1 SLC22A5 ALDOB SCO1 HADHA ATP7B TRMU PTRH2 MTTP ACADVL LRPPRC CARS2 MRPL44 COA8 HNF4A RERE HP_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_HEPATITIS PDGFRL CIITA RFXANK BTK CASP8 RFXAP PIK3CA CTNNB1 MET IGF2R APC AXIN1 TP53 RFX5 HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT PYGL AKT2 HNF4A SLC2A2 PHKB HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS PDGFRL TP53 CASP8 PIK3CA CTNNB1 MET IGF2R APC AXIN1 HP_PROLONGED_NEONATAL_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_NEONATAL_JAUNDICE TREX1 RNASEH2B ADAR GYPC SPTB CASK ATP6AP1 ARL13B RNASEH2A EPB41 UGT1A1 PRPS1 CCDC115 ATP7A CPOX GALM NSD1 SAMHD1 G6PD GPC1 JAG1 NPC2 SETD2 TBX19 PEX3 SMPD1 APC2 POU1F1 KMT2E ADAMTS13 GALK1 CTCF PKLR RNU4ATAC SPTA1 SLC44A1 PARS2 RNASEH2C NPC1 AMACR CDAN1 PEPD PEX1 IFIH1 TRHR MPV17 SPOP HP_PORTAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_FIBROSIS ABCB4 PYGL PHKG2 ARG1 WDR35 ADK PHKA2 CEP83 HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE WNT7A EFNB1 ZMPSTE24 SRCAP LMNA HP_DIAPHRAGMATIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_PARALYSIS MEGF10 IGHMBP2 BAG3 TPI1 MORC2 GAA HP_WIDE_INTERMAMILLARY_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_INTERMAMILLARY_DISTANCE KIFBP SPRY4 PACS1 SMPD4 IGF1R GNPTAB BRAF UBA1 RRAS2 DUSP6 NRAS RASA2 CHST3 FGF8 PIGN TUBB MAPRE2 ASXL1 AMER1 MADD UBE2A NF1 ARCN1 CILK1 RIPK4 FGFR1 CDH11 NSMF PTPN11 NUP188 KISS1R ERMARD MEGF8 SOS1 ZC4H2 PROKR2 MEG3 KIAA0586 WDR37 HNRNPK TAC3 RTL1 KRAS TFAP2A FGF17 B3GLCT TACR3 SRY GNRHR FRAS1 WASF1 SOS2 AMMECR1 PIK3CD ALG9 ALG14 COX7B HS6ST1 A2ML1 ARHGEF2 RAF1 ERCC6 WDR11 KAT6A IBA57 ABCD4 HDAC4 ADNP CPT2 SMS RRAS CSPP1 TRAF7 NECTIN1 GATA4 FREM2 RIT1 CHD7 KANSL1 COG1 SMARCA2 ANOS1 LZTR1 INTU CBL OFD1 GNRH1 TP63 GRIP1 TBL1XR1 MRAS DHCR7 KNSTRN CERT1 KLHL7 PROK2 DLK1 KISS1 MAB21L1 TMCO1 RAB18 HP_ABSENT_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_STERNAL_OSSIFICATION FIG4 SOX9 ORC6 ORC1 VAC14 HP_THORACIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_DYSPLASIA NEK1 WDR35 WDR19 DYNC2I1 IFT172 DYNC2I2 HP_THIN_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_CLAVICLES ZMPSTE24 TBCE COL11A1 LMNA PCNT HP_RIB_SEGMENTATION_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_SEGMENTATION_ABNORMALITIES LETM1 CPLX1 FGFRL1 HES7 LFNG RIPPLY2 MESP2 NSD2 CTBP1 DLL3 NELFA HP_APLASTIC_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_CLAVICLE CDC6 CDC45 RNU4ATAC ORC1 SALL4 RUNX2 PTH1R PIGL ATP7A FIG4 ORC6 PTDSS1 TRPV4 CDT1 KIAA0586 ORC4 GMNN HP_REDUCED_SYSTOLIC_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SYSTOLIC_FUNCTION TPM2 SGCD TKFC MYPN PLN TPM3 CSRP3 ABCC9 SCN5A DES LIMS2 HP_VENTRICULAR_EXTRASYSTOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_EXTRASYSTOLES NAA10 SLC25A20 JUP TMEM43 CDH2 DSG2 DSP CACNA1S TRDN RYR1 DPP6 TNNI3K SCN5A HP_ENDOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROSIS MYL3 PDGFRA SP110 ACTN2 LDB3 VCL HP_BACTERIAL_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACTERIAL_ENDOCARDITIS GATA6 PRKAR1A CRELD1 GATA4 GBA NR2F2 HP_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIOVENTRICULAR_CANAL_DEFECT GATA6 PKD1L1 GATA4 PRKACB PUF60 GLI3 GJA1 NKX2-5 WASHC5 KDM6A TBX5 PRKACA CRELD1 CCDC22 TBX1 ACVR2B CDH2 VPS35L CDC45 DYNC2LI1 TRIO KAT6B GDF1 MMP21 NR2F2 HYLS1 WDPCP GATA1 EVC2 INTU NEK1 RAF1 NKX2-6 EVC DHCR7 LONP1 CFC1 ZIC3 GLI1 BRAF FOXF1 PTPN11 FANCB HP_DILATATION_OF_THE_VENTRICULAR_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY GMPPB NPPA PKP2 NDE1 EFEMP2 FBLN5 RPL10 RYR2 HP_PREMATURE_ATRIAL_CONTRACTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ATRIAL_CONTRACTIONS TTN GJA5 CITED2 KCNE2 SCN5A HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS CHRM3 WDR35 ETFA VANGL1 CHRNG TAPT1 PKHD1 DOK7 TRIP4 ADGRG6 DYNC2I2 DYNC2H1 MYRF KIAA0586 MKS1 ZFPM2 CEP120 LMNA LETM1 CSPP1 NPHP3 TMEM94 CC2D2A WNT3 RLIM IFT140 PIGN GPKOW ACTA1 SLC26A2 BCOR FLNB FLNA CHRND GREB1L CDC45 DZIP1L ACE MAP3K20 B3GALT6 AGTR1 PIEZO2 ETFDH FAM20C COL2A1 GLE1 ITGA8 GLDN DYNC2LI1 ETFB WNT4 REN IFT172 DHCR7 SETBP1 NSDHL DONSON NEK9 NSD2 TRIP11 FANCB RSPO2 MEG3 ZMPSTE24 HACD1 WT1 GATA6 DYNC2I1 RTL1 EVC SMO IFT80 AGT GLI1 AARS2 PEX1 TTC21B ATP5F1A FRAS1 RYR1 TCTN3 PHGDH HSPG2 RAPSN LTBP4 RBM10 BMPER TPM3 MYL2 LIFR ITGA7 FGF20 CHRNA1 CEP55 ALG9 NEK1 LGI4 ASCC1 SLC25A24 HOXD13 NELFA KAT6B KLHL40 SON MUSK RET MYOD1 TRPV4 LMOD3 MCTP2 NEK8 RARB SLC18A3 PTH1R NUP88 FREM2 NEB IFT81 MYH3 STRA6 WDR19 SELENON FGFR3 INVS EVC2 NAA10 INTU LBR SPECC1L PORCN GRIP1 TPM2 COQ7 KLHL41 FUZ NDUFB10 PSAT1 DLK1 MKKS HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY MYH11 SMPD1 CYP7A1 BRCC3 MAT2A PCSK9 ERCC6 LMNA XYLT1 APOB TGFBR2 GLB1 ERCC8 ABCC6 NT5E PRKG1 ABCG5 PPARG APOA2 LIPC ACTA2 HGD ENPP1 ELN MLXIPL DYRK1B LDLRAP1 LDLR EPHX2 XYLT2 ABCG8 SMAD4 PPP1R17 CEP19 MFAP5 TGFBR1 TKT LOX APOE ZNF687 SMAD3 GHR FOXE3 TGFB2 KCNJ5 ABCA1 SERPIND1 NADSYN1 TGFB3 YY1AP1 FBN1 MYLK ESR1 HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY CLIP2 FLNA RPS6KA3 KRAS FMN2 TBX1 NKX2-5 AEBP1 FBN2 MYRF ZNF469 TPM3 BRAF GBA SH3PXD2B BCOR EXTL3 PRDM5 COL5A2 POLG TBX20 NXN COMT IFIH1 SKI HRAS CCDC22 MMP2 UFD1 LMNA FBN1 HGD ACTC1 MAPK1 TPM2 IDS FGFR1 MLXIPL ABCC6 COL1A2 SMAD4 FIBP FMR1 MYH6 COL2A1 AGGF1 B3GALT6 SLC29A3 TGFBR1 SEC24C TNXB MYH7 B3GAT3 GTF2IRD1 PLD1 GTF2I COL1A1 VPS13B DSE TAB2 RREB1 MFAP5 PKD1 RFC2 GATA6 MYPN HCN4 CRELD1 NOTCH1 CBS ZMPSTE24 ANK1 MYCN HIRA MTX2 XYLT2 PTPN11 TGFBR2 NONO GNPTAB CLIC2 BRF1 TBL2 MMP14 PCGF2 TMEM260 COX7B VWF SELENON XYLT1 WASHC5 GP1BB ARVCF NDUFB11 MAP3K7 ROR2 BICC1 ELN ATP6V1E1 SACS RYR1 COL3A1 NF1 RPL5 MCTP2 DCHS1 LTBP3 BAZ1B LIMK1 SMAD3 GANAB MMP21 GATA4 CITED2 CHST3 GJA1 TGFB2 ENPP1 CCNQ NR2F2 DZIP1 RAF1 HCCS COL5A1 ZIC3 PKD2 JMJD1C YY1 MED12 PLOD1 TLL1 TTN HP_CYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_LIVER_DISEASE TMEM107 SEC63 CC2D2A NPHP3 GANAB PKD1 PKHD1 TCTN2 TTC21B TMEM216 IFT122 DNAJB11 WDPCP TMEM231 B9D2 PKD2 WDR19 LRP5 EXTL3 TMEM67 RPGRIP1 CEP290 TSC1 TSC2 BICC1 PRKCSH MKS1 JAK1 RPGRIP1L CSPP1 OFD1 CEP55 ALG8 B9D1 HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE RPGRIP1L MST1 IL12A ITCH DLL4 PKHD1 TMEM67 ENG TET2 CC2D2A RECQL4 INPP5E SMAD4 GDF2 ALMS1 FARSB POU2AF1 F5 ACVRL1 ARHGAP31 SPIB DGUOK DOCK6 BTNL2 NEUROG3 JAK2 EOGT ELN ADA2 MLXIPL GBE1 MMEL1 STOX1 DZIP1L SLC30A10 NOTCH1 GLIS3 SHPK MPL IRF5 TNPO3 TNFSF15 RBPJ SP110 DCDC2 HLA-DRB1 TJP2 CORIN TREX1 HFE KRIT1 CALR CLDN1 STN1 FLT1 NPHP3 TCF4 GPR35 IL12RB1 PIGM HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES TP63 CHRNG UBR1 TBX3 CDH11 WNT3 NIPBL WASHC5 SLC25A24 PTPRF SMC1A NELFA SETD5 LETM1 TWIST2 KDM6B DOLK USP9X PIGN CCDC22 PIGL TUBB WNT7A KIF15 PORCN SETBP1 VAC14 EFNB1 IKBKG HDAC8 EDA EDARADD MEGF8 FIG4 KCTD1 CCDC47 NSD2 RSPO2 MEG3 KMT2A GNE RTL1 ANTXR1 RAD21 DLK1 SMC3 HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES MSX2 TWIST1 IDUA RUNX2 FLNA SALL4 TBX3 LMNA ATP7A XYLT1 PTDSS1 ZMPSTE24 KIAA0586 CDC6 RSPO2 BCOR PIGL TRIP11 WNT7A TBX5 DYNC2LI1 ALX4 FAT4 B4GALT7 PORCN SRCAP VAC14 EFNB1 CDC45 RNU4ATAC FBXL3 FGFR2 PTH1R FIG4 BGN BMPR1A NSDHL TRPV4 CDT1 NAA10 DCHS1 ORC1 PTEN ORC6 HOXD13 CHD4 ORC4 GMNN HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX WDR35 SALL4 TBX3 COL11A1 CENPJ ATP7A EVC XYLT1 PTDSS1 DDRGK1 C2CD3 IFT122 SF3B4 FLNB KIAA0586 CEP120 LMNA KMT2A SKI SLC26A2 CCDC22 PIGL ARID1B RIPK4 HES7 SRCAP NOG PSMB8 TBC1D24 TBX15 BMPR1A PLCB3 RPS19 TBX6 NSDHL RSPO2 RNU4ATAC ZMPSTE24 COL11A2 TBCK RRAS2 GSC EZH2 IFT140 FRAS1 ORC4 DDR2 INPPL1 ATR ORC6 COL2A1 BMPER ACTB WASHC5 MYF5 CDC6 DYNC2H1 SUFU GPX4 SOX2 DYNC2I2 IHH TRPV4 DYNC2LI1 ALX4 FAT4 ORC1 PTH1R BMP2 SETBP1 VAC14 IFT81 CHST3 FBN1 PTPN11 CDT1 NAA10 NFASC INTU ROR2 NFIX LBR SOX9 PTCH2 FUZ DLK1 CHD4 GMNN ALPL MSX2 VANGL1 FLNA TAPT1 CEP152 TRPV6 NIPBL PCNT TTC21B GNPTAB IFT43 HDAC6 SIX6 IFT172 BCOR TRIP11 WNT7A TBX5 FGFR3 PORCN DYM FBXL3 BUB1B RBM10 RUNX2 ERMARD FIG4 BGN B3GAT3 MEG3 KCNAB2 PRDM16 FGFR2 RTL1 PAM16 SMO PTCH1 DNMT3A NKX3-2 EFNB1 DYNC2I1 EVC2 TWIST1 IDUA PCGF2 WNT3 NEK1 SNRPB ALG12 FLI1 TOR1A B4GALT7 CSPP1 CDC45 SMC1A B3GALT6 LMX1B GABRD PUF60 SLC35D1 IFT80 CUL7 DCHS1 TMEM231 PTEN HOXD13 FGFR1 RERE HP_APLASIA_HYPOPLASIA_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS ALPL WDR35 VANGL1 TAPT1 CEP152 TRPV6 TBX6 CENPJ EVC TTC21B DDRGK1 C2CD3 IFT122 SF3B4 FLNB KIAA0586 IFT43 CEP120 HDAC6 SIX6 IFT172 KMT2A DYNC2H1 SKI GNPTAB SLC26A2 CCDC22 TRIP11 FGFR3 PORCN HES7 RUNX2 ERMARD TBC1D24 FIG4 B3GAT3 PLCB3 PTH1R RPS19 NSDHL COL2A1 RSPO2 MEG3 RNU4ATAC KCNAB2 PRDM16 COL11A2 TBCK RTL1 PAM16 RRAS2 SMO PTCH1 DNMT3A NKX3-2 EZH2 IFT140 DYNC2I1 EVC2 DDR2 INPPL1 ATR ORC6 BMPER WNT3 COL11A1 WASHC5 NEK1 SNRPB MYF5 ALG12 SOX9 SUFU FLI1 GPX4 SOX2 DYNC2I2 TOR1A IHH TRPV4 DYNC2LI1 ORC1 BMP2 CSPP1 SETBP1 VAC14 SMC1A B3GALT6 LMX1B GABRD PUF60 SLC35D1 IFT81 IFT80 FLNA CHST3 FBN1 CUL7 PTPN11 NFASC INTU ROR2 LBR PTCH2 FUZ DLK1 RERE HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE FGFR3 INPPL1 RUNX2 DYM FLNA COL2A1 TBX3 PSMB8 TBX15 COL11A1 SLC35D1 FIG4 PCNT ACTB GNPTAB NSDHL MEG3 SOX9 COL11A2 RSPO2 RTL1 WDR35 TRIP11 GSC DLK1 FGFR1 RIPK4 VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM SOX9 RBM10 NOG ORC6 NFIX TMEM231 PCGF2 BUB1B ARID1B FIG4 NIPBL ORC1 FRAS1 SETBP1 VAC14 HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA BUB1 MCC MSH6 FGFR3 PDGFRL AXIN2 AURKA CCND1 SRC FLCN DLC1 DCC PLA2G2A AKT1 RAD54B TP53 TGFBR2 CTNNB1 APC BUB1B TLR2 PIK3CA MLH3 PTPN12 PMS2 EP300 BAX PTPRJ EPCAM NRAS HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA SRP54 NSUN2 BUB3 SETD2 BUB1B GFI1 TAL2 ABL1 TRIP13 APC2 PIGL MSH2 FLT3 BAX CDKN2A NBN NSD1 ELANE TP53 MDM2 BRCA2 CEP57 BCR BLM GNB1 CHEK2 NUP214 TAL1 TCIRG1 BUB1 LIG4 HP_INTESTINAL_CARCINOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_CARCINOID MEN1 SDHD CDKN2C CDKN1B CDKN1A CDKN2B HP_PANCREATIC_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ADENOCARCINOMA MLH3 TP53 FAN1 PIK3CA NTHL1 BRCA1 CDKN2A KRAS RPS20 RNF43 STK11 CDC73 PMS1 TGFBR2 PMS2 MSH6 PALB2 PALLD BRCA2 SEMA4A BMPR1A SMAD4 MSH2 MLH1 RABL3 EPCAM HP_FOLLICULAR_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_THYROID_CARCINOMA PTEN SDHB KLLN SDHD FOXE1 MINPP1 HRAS AKT1 SDHC SEC23B USF3 SRGAP1 PIK3CA NRAS HABP2 HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN RSPO1 TMC8 ERCC5 KRT14 GJB2 LMNA TYR ERCC3 ERCC4 DDB2 TERC TINF2 XPC MC1R OCA2 TERT GJB6 IL7 ERCC2 KRT5 HP_ADRENOCORTICAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_CARCINOMA CDKN1C MEN1 APC CDKN2C CDKN1B TP53 IGF2 CDKN1A CDKN2B MDM2 KCNQ1 PRKAR1A KCNQ1OT1 CHEK2 CDKN2A HP_NEOPLASM_OF_THE_STOMACH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_STOMACH TREX1 MCC BCL10 APC CDK4 BUB1B PDGFRL BMPR1A AXIN2 AURKA CCND1 PRKAR1A CDKN2A MITF DCC AKT1 TP53 CTNNB1 SUFU CHEK2 TERT BAP1 BAX SDHB CDKN2B MLH3 PTPRJ CDH1 BUB1 IL1RN BUB3 FGFR3 POT1 MSH6 RPS20 SDHC TRIP13 SRC SMAD4 FLCN MLH1 STK11 DLC1 MC1R ACD MSH2 TERF2IP MGMT PLA2G2A SDHA RAD54B MSH3 ENG KIT MDM2 TLR2 PIK3CA PTPN12 SEMA4A CEP57 EP300 PTCH1 BLM PTCH2 PDGFRA KRAS IL1B NRAS HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR MLH1 MSH6 MSH2 ADA2 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 RPS15A BLM RPL11 RPS19 RPS29 RPL18 RPL27 HP_CHONDROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROSARCOMA EXT1 IDH1 EXT2 IDH2 NR4A3 TAF15 PTH1R HP_PAPILLARY_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_RENAL_CELL_CARCINOMA MET FH FOXE1 CDC73 PRCC LMNA MINPP1 HABP2 HP_PITUITARY_PROLACTIN_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_PROLACTIN_CELL_ADENOMA CDKN1B MEN1 CDKN2C CDKN1A CDKN2B AIP PRKAR1A GPR101 HP_DUODENAL_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ADENOCARCINOMA SMAD4 BMPR1A GREM1 APC MLH1 MSH2 NTHL1 HP_RENAL_ANGIOMYOLIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_ANGIOMYOLIPOMA CDKN1B TSC1 MVK TSC2 IFNG HP_OVARIAN_PAPILLARY_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA OPCML CTNNB1 CDH1 PRKN AKT1 PIK3CA HP_ALVEOLAR_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RHABDOMYOSARCOMA KEAP1 PAX3 PAX7 DICER1 FOXO1 HP_PARATHYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_CARCINOMA CDKN1B CDC73 MEN1 GCM2 CDKN2C CDKN1A CDKN2B HP_POSTERIOR_PHARYNGEAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PHARYNGEAL_CLEFT CR2 NFKB1 MS4A1 TNFRSF13C CD19 TNFSF12 TNFRSF13B CD81 PRKCD MID1 NFKB2 ICOS HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY LMNA TRAPPC11 ANO5 DAG1 FHL1 ACTA1 SGCA SYNE2 HNRNPDL CRPPA SYNE1 TMEM43 POMT2 EMD HNRNPA1 HP_BASAL_GANGLIA_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CYSTS PDHA1 MT-ATP6 CPT2 LONP1 GFM1 ADAR NUP62 HP_HYPERACTIVE_DEEP_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES GJA1 ATXN1 C19orf12 SLC2A1 SAMD9L TIMM8A EGF SDHD PRPS1 OFD1 MECP2 SDHB PRSS12 PMP22 GALC ATXN2 SDHAF1 PRRT2 KCNC3 UROC1 SDHA PRNP TANGO2 SMG9 BEAN1 CNNM2 STUB1 MAB21L1 ATP6AP2 DNM1L MRE11 HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY SMN2 UBA1 SETX SMN1 IGHMBP2 TFG ATXN3 DCTN1 NEFH CEP126 PRPH VRK1 CPLANE1 GLE1 ASAH1 SOD1 HP_CEREBRAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOMYELINATION PIGW PLP1 PIGL FAM126A CYB5R3 TBCD EIF2B1 PHGDH PGAP3 SLC1A4 EIF2B5 VPS11 PGAP2 BCAP31 EIF2B2 SOX10 SPATA5 PIGY GJC2 EIF2B4 POLR3B WDR26 SLC25A12 CYB5A RARS1 ADSL PIGV EIF2B3 TUBB4A STXBP1 PIGO HP_FOCAL_HEMICLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_HEMICLONIC_SEIZURE GABRA1 FRRS1L SCN1A STXBP1 SLC12A5 PCDH19 GRIN2A SCN1B KANSL1 SCN2A GABRG2 SCN9A HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS WDR35 FKTN RDH12 SOX4 BUB1B DOK7 ARMC9 EVC FDXR C2CD3 CEP290 KIAA0586 HHAT MKS1 AP1S2 ARID2 CEP120 TMEM231 FGFR1 ZIC1 BCOR RPGRIP1L NPHP3 DAG1 USP9X PIGN RPGRIP1 ASXL3 CCDC22 ARID1B TUBB ASXL1 USP45 LCA5 GMPPB TSEN15 LARGE1 B9D1 INPP5E RXYLT1 CEP55 PAFAH1B1 BUB1 OFD1 KIF7 PIEZO2 ARL3 TBC1D24 RAC1 KCNJ13 SEPSECS WDR81 HYLS1 FAM149B1 CEP164 DHCR7 FKRP KATNIP POMT2 RNU4ATAC THG1L CPLANE1 TRRAP RPE65 MPL NRAS PDE6D SEMA3E POMT1 VPS51 CRPPA B3GALNT2 MEF2C GPC3 PHGDH TMEM107 ATR BRF1 ADGRG1 L1CAM DPH1 TMEM67 CC2D2A DENND5A KIAA0753 GPC4 GUCY2D ALX4 WASHC5 TMEM138 ATN1 PRKDC SMARCE1 TSEN2 RAB3GAP2 TCTN2 PSAT1 TMEM216 DYNC2H1 ATP6V0A2 TULP1 CPT2 TMEM237 SMARCA4 FRMD4A ARL13B COG1 RD3 DYNC2I2 LAMA1 GOT2 SACS GDF6 TSEN54 RAB18 THOC2 CEP41 OPHN1 SETD2 NUP88 MYOD1 GRIA3 ACY1 TMCO1 PGAP1 AHI1 FTO CDKN1C TSEN34 IMPDH1 SPECC1L DCHS1 RERE EBP TUBB3 CEP104 IFT140 MAB21L1 RAB11B FOXC1 TBC1D20 IQCB1 INTS1 AIPL1 SPATA7 NID1 POMK LRAT DPF2 CSPP1 NCAPG2 NPHP1 PMM2 SRD5A3 IFT172 GRM1 POLR3A VPS35L TUBA1A SMG9 WDR73 PCYT1A COL4A1 TCTN1 SOX11 BUB3 IGF2 RBM10 SUFU MVK APC2 BMP4 ZEB2 SMARCD1 CRX B4GAT1 B9D2 GLI3 TFAP2A CEP57 PPP1CB B4GALT1 CENPF DYNC2I1 EVC2 FAR1 RAPSN ATP6V1A PCGF2 RAB3GAP1 ATP2B3 EXOSC8 NUP37 ZNF423 NMNAT1 CDC42 NEK1 CHD7 SLC25A24 SLC35A2 WDPCP NSD1 TAF1 POMGNT1 PLG ITPR1 MDH1 HRAS ARID1A MUSK PIBF1 RNF113A SLC18A3 FLVCR2 IFT80 WARS2 SRPX2 TRIP13 SLC25A19 KCNQ1 KCNQ1OT1 EPG5 KRAS SMARCC2 PI4KA TBCK LRRC32 ATP6V1E1 POMGNT2 PIGU TCTN3 KLHL7 SEMA6B EBF3 SMARCB1 CRB1 FAT4 PACS1 MRE11 CWF19L1 HP_SEVERE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_MUSCULAR_HYPOTONIA PIGG PEX11B KDM5B FKTN CCDC174 GRIN1 DMXL2 TRIP4 KLHL41 PEX12 STRADA CLTC MYMK UBA1 GCDH BICD2 GPT2 TBCD PEX19 ZNHIT3 SLC25A12 PEX6 MBD5 HIVEP2 ZMYND11 ITPA SLC39A8 PPP3CA PEX2 DYNC1H1 MPLKIP FKBP14 TRPM3 MYL1 TAOK1 ACTA1 TPM3 MFF GCH1 AIFM1 ABAT MYT1L PEX13 CSNK2B PNPT1 FKRP PEX10 POMT2 B4GAT1 CACNG2 TBCK CCDC88A ASH1L NEB PEX16 LARGE1 MPZ LMOD3 GRIN2B CAMK2B KIF1A SPTBN4 KCNQ5 DEAF1 CAMK2A SNRPN ALG14 PEX5 PEX26 KIRREL3 LMNA SLC25A1 ASCC1 TBC1D24 BRSK2 PIGN NDUFS6 KLHL40 IBA57 EEF1A2 SET VAMP1 BMP4 CIC MTM1 B3GALNT2 EPB41L1 POMT1 CDH15 CUX1 PURA CHAMP1 RMND1 PEX1 PEX3 SPEG CARS2 DOCK8 SYNGAP1 DPM2 TCF4 PEX14 RAB11A MED12L POMGNT1 STXBP1 HP_ACUTE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_ENCEPHALOPATHY SLC22A5 RANBP2 SLC25A15 PCCB NDUFS4 ACY1 COG8 PCCA HP_HYPOPLASIA_OF_THE_VENTRAL_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS TSEN15 TSEN34 VRK1 TSEN54 SEPSECS TSEN2 HP_CEREBELLAR_VERMIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_VERMIS_ATROPHY TMEM240 ATXN8OS DLG4 CACNA1A GJB1 KIF1A PUM1 PEX16 XRCC4 CACNA1G LMX1B MME GRID2 QARS1 TDP1 CACNA2D2 ITPR1 SCYL1 TUBB FA2H PMPCA DAB1 PRKCG CUL4B STXBP1 SACS TRPC3 SETX HTT CHP1 PIK3R5 RNU12 COX20 HP_IMPAIRED_DISTAL_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_PROPRIOCEPTION POLG TDP1 TWNK DARS2 POLR3A CYP7B1 MTTP HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY RSPRY1 SPATA5 POGZ EHMT1 TAF1 HERC1 ARID1B GRIA3 KMT2C HP_LOBAR_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBAR_HOLOPROSENCEPHALY RTTN ZIC2 TMEM107 WDPCP TMEM231 CC2D2A B9D2 TMEM67 TCTN2 RPGRIP1 CEP290 FGFR1 MKS1 TMEM216 RPGRIP1L CSPP1 CEP55 B9D1 HP_CEREBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOPLASIA CIT C2CD3 KIF14 WDR62 KNL1 STIL HHAT BUB1B TAF13 MAP11 MCPH1 CEP63 PHGDH FIG4 CDK6 SASS6 FH FDXR METTL5 BRAF NCAPD3 DHCR7 ANKLE2 MKS1 CDK5RAP2 RTTN RNU4ATAC COASY KIAA0586 GCDH PYCR2 PHC1 WDR45B CEP152 MYSM1 MFSD2A SLC35C1 ASPM COPB2 CEP135 CSPP1 CENPJ ARHGEF9 VAC14 HSD17B4 HP_PONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PONTOCEREBELLAR_ATROPHY CCDC88C SETX RORA FA2H LAMA2 DPM1 HP_IMPAIRED_DISTAL_VIBRATION_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION POLG PDYN GBA2 SPAST KCND3 DHH KCNC3 DCAF8 ALDH18A1 REEP2 KIF5A CACNA1G SETX TWNK ABCD1 PRKCG LRSAM1 FMR1 B4GALNT1 HP_INTELLECTUAL_DISABILITY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE KDM5C UROC1 B3GLCT SLC35C1 RAB3GAP2 HCCS MGAT2 ERCC3 MTRR SUCLA2 TSHB AP4M1 TONSL ERCC2 ATRX KCNH1 SLC9A6 NDP ACOX1 KAT6B TCF4 XPC DDB2 SLC16A2 WDR81 AHSG NKX2-5 XPA SNAP29 ERCC5 NDE1 PTS COX7B GCH1 NDUFB11 ARHGEF9 CTSD OFD1 L2HGDH ERCC4 AIFM1 UBE3A TK2 ARX CC2D1A SRD5A3 DMPK PEX1 MECP2 HP_MENINGOENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOENCEPHALOCELE FKTN FKRP POMT1 LARGE1 POMT2 HP_INTELLECTUAL_DISABILITY_BORDERLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_BORDERLINE MAGEL2 NDN TRAPPC11 SNRPN DMPK GRIN2A KCNMA1 OCA2 ENTPD1 SRPX2 CPLX1 GABRG2 YY1AP1 TBC1D24 TRIO HP_THICK_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_CEREBRAL_CORTEX APC2 ATP6V0A2 ATP6V1E1 ATP6V1A PAFAH1B1 TBC1D24 RELN CPLX1 HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY C9orf72 VCP MAPT SPG21 PSEN1 CHMP2B SQSTM1 GABRA5 COG4 GRN PRKAR1B PLA2G6 TMEM106B TREM2 HSD17B10 HP_LOWER_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERTONIA PNPT1 KDM5C KDM1A SPG7 SEPSECS VPS37A ATRX MTPAP SDHD ALDH18A1 KAT6A TSEN2 ATL1 SDHB FA2H LBR SDHAF1 MTRR TSEN15 SDHA SLC35C1 TSEN34 TSEN54 SLC33A1 RARS1 HP_CRANIAL_NERVE_VI_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_NERVE_VI_PALSY CDH23 TRPV4 WDR26 MEN1 CCDC174 AIP HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES FKRP POMT2 POMK POMGNT1 POMT1 GMPPB HP_IMPAIRED_THERMAL_SENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_THERMAL_SENSITIVITY SCN1A ABCA1 HEXB PRRT2 ZFHX2 CACNA1A ATP1A2 HP_FRONTAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_CORTICAL_ATROPHY FBXW11 OPHN1 SVBP CYB5R3 VCP DOCK3 DDX6 MED13 RLIM NTNG1 TCF20 SCYL2 BPTF POMT2 ACTL6A TANC2 KMT2E PARS2 MYT1L VPS13A WDFY3 PSMD12 TRMT1 CYB5A ZMIZ1 ACTL6B TRAPPC4 MEF2C BCORL1 HP_INABILITY_TO_WALK_BY_CHILDHOOD_ADOLESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INABILITY_TO_WALK_BY_CHILDHOOD_ADOLESCENCE TK2 GLRX5 MFN2 SUCLA2 GDAP1 HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR JRK GRIA3 NFIX WDR62 PAK3 ATXN10 KMT2C TMEM240 GCSH AP1S2 SHANK3 SLC6A17 SPATA5 KMT2A PAH SASS6 KCNA1 DPYD HDC GRIN1 HNRNPH2 THOC2 ATP13A2 AFF2 TREM2 PIGQ MBD5 ZMYND11 POGZ SIK1 MAGEL2 MAN1B1 IQSEC1 OCRL FRMPD4 SNRPN TAOK1 FMR1 CACNB4 DHCR7 MYT1L GABRD WARS2 MECP2 SLC25A13 NDN ANK3 VPS13A ASH1L PRRT2 EP300 CLTCL1 SPR CEP85L BPTF CUX2 CLCN2 CHD2 CHMP2B SQSTM1 DEAF1 DGCR8 SLC2A1 HTR2A SLC25A22 TIMM50 BRSK2 INPP5E DYNC1I2 RUSC2 TCF4 PYCR2 CREBBP SLC6A4 ABCA2 SLITRK1 TTI2 TRIO SATB2 SHMT2 CNTNAP2 HERC2 GRM7 GRIN2A SCN1B GJB2 CDH15 UBE2A NFASC LINS1 NFIB HSD17B10 IQSEC2 GAMT PANK2 ODC1 DCHS1 KIF1A DOCK8 NDP CAMTA1 UBTF CDKL5 MAB21L1 RAB11A RBBP8 MED12L STXBP1 LARP7 KDM5B SLC6A8 USP7 TKT EIF2S3 TYROBP GNAO1 SLC2A3 KCNQ3 CLTC USP9X DNMT3A RLIM TSC2 SETD1A MADD CLCN4 HIVEP2 MED25 AUH RPL10 PPP3CA DYNC1H1 TRPM3 NTNG2 PSMD12 PIGL HECW2 SCN2A KCNAB2 PCDH19 DMXL2 MED12 PRNP ZBTB20 EHMT1 PIGH DGCR2 RORB NONO GRIN2B SETD2 KCNQ5 CAMK2A MAPK10 TMEM231 PIGY KIRREL3 OCA2 NSD1 LEPR EEF1A2 TBX1 DDX3X PUS3 METTL5 SET C12orf4 CIC CTNNB1 NTRK1 DPAGT1 WAC NAT8L ATP7B KPTN FBXW11 KIF11 RERE TMCO1 SPOP RPS6KA3 SYN1 NDST1 ECM1 MGAT2 DGCR6 FLII ARID1B MAPK1 KIF15 NALCN RAI1 KDM3B EFHC1 MAOA GABRA1 AMT TMEM106B ESS2 CSNK2B NAA10 CILK1 CACNG2 NAGS PSEN1 TRIP12 GABRB3 SCN1A PNKP NKAP DNM1 KDM5C CAMK2B FIG4 NRXN1 UNC80 ZMIZ1 SOX5 KNL1 GRN GABBR2 BCAP31 TCF20 SIM1 SMARCC2 ENTPD1 PRODH ALDH5A1 CDH2 PLA2G6 SKI LINGO1 ELP2 KCNT1 VCP ADAT3 EPB41L1 NEUROD2 MAPT VAMP2 CEP152 NAGLU GLDC GRIA2 SYNGAP1 ATP1A1 UQCC2 ADSL PHIP BCOR MANBA PACS1 NIPBL ABCA12 SIN3A CUL4B HDAC4 NSDHL PIGP SH2B1 SCN11A TRIM8 PUS7 SMARCA2 NDE1 ATRX SLC6A1 HPRT1 APC2 SLC1A4 SVBP C9orf72 PRDM16 TTC19 SPAST IMPA1 WASF1 HTT UROC1 PTCHD1 FRRS1L SLC52A2 PPP2R5D DMPK GLS MED13L FGF14 AP2M1 TBP TSC1 ADNP CASK DYRK1A SYT1 SMC1A WDR45 ARX KMT2E EBP CUX1 FOXP1 RTTN CHAMP1 SARS1 GATAD2B FAT4 HP_CONGENITAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NYSTAGMUS CNGB3 FBXW11 LRP5 TULP1 SVBP PAX6 ADAR BLOC1S6 DOCK3 FRMD7 TBC1D24 DDX6 MED13 RLIM NTNG1 TCF20 BPTF ACTL6A TANC2 KMT2E MYT1L MT-ATP6 WDFY3 PSMD12 TRMT1 ZMIZ1 ACTL6B TRAPPC4 NUP62 BCORL1 HP_IMPAIRED_DISTAL_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_TACTILE_SENSATION DCAF8 KLHL9 HARS1 MPV17 SETX DHH HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES ALDH18A1 REEP2 GBA2 CACNA1G SPAST ABCD1 KCND3 PRKCG B4GALNT1 HP_RETROCEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROCEREBELLAR_CYST AHDC1 GRM1 ZSWIM6 OPHN1 DOCK6 GRIA3 SNX14 HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA RTTN PMM2 FKRP ATXN2 POMT2 POMK POMT1 TOE1 TSEN54 PPP2R1A POMGNT1 GMPPB HP_DILATION_OF_LATERAL_VENTRICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATION_OF_LATERAL_VENTRICLES GRIN2B CAMK2B KDM5B KCNQ5 CCDC174 GRIN1 DEAF1 CAMK2A PPP2R5D SNRPN NDUFB11 KIRREL3 GFM2 PTPN23 NEK1 LONP1 ODC1 NFIX BRSK2 GLUL ZIC1 SLC35A2 CLTC PSAT1 SON COG5 EEF1A2 PUS3 MBD5 SET HIVEP2 ZMYND11 MED25 CSPP1 TUBB2B ZEB2 PPP3CA CIC DYNC1H1 RAC1 TRPM3 GRN TAOK1 WARS2 EPB41L1 HS6ST2 MYT1L PDHA1 CDH15 CSNK2B CUX1 TNFRSF11A CHAMP1 KIAA0586 CACNG2 GCDH KIF1A KIDINS220 VPS13A ASH1L DOCK8 SYNGAP1 VPS51 TUBB3 FBXW11 TCF4 D2HGDH DCX EZH2 ATP6AP2 RAB11A MED12L STXBP1 HP_LOSS_OF_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_ABILITY_TO_WALK LRP5 PLEC CDKL5 ADAR POMT2 TWNK NEU1 MAPT GFM2 SDHD FAM126A HSD17B10 AP4S1 RNASEH1 KLHL9 STXBP1 GABBR2 BVES SDHB DES ERBB4 RRM2B MECP2 SDHAF1 FA2H POMT1 GMPPB MT-ATP6 SDHA REPS1 DNAJB6 CRAT DYSF VAC14 LARGE1 NUP62 FKRP NTNG1 HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS DIAPH3 MTMR2 GJC2 OTOF ERCC6 GALC OPA1 ERCC4 PSAP SH3TC2 NDRG1 TIMM8A MYH3 EBP SOX10 ERCC8 EDNRB HP_JERKY_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_HEAD_MOVEMENTS GABRB3 CACNA1H PRNP MAPT DLAT PIGT JRK VAMP1 GABRG2 GABRA1 SLC2A1 HP_PERIVENTRICULAR_LEUKOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_LEUKOMALACIA GTF2H5 TET3 BRF1 AARS2 DLL4 ARID2 PDHB MPLKIP RBPJ GTF2E2 PUF60 USP7 ERCC3 RNF113A DDHD2 ARHGAP31 PC NRROS HK1 PDHA1 LONP1 TBCK DOCK6 SON TRMT1 EOGT CLCN4 ERCC2 NOTCH1 TARS1 MORC2 HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER VCP GRN MAPT PSEN1 TMEM106B TREM2 C9orf72 CHMP2B FOXP2 GALT HP_SLEEP_WAKE_CYCLE_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_WAKE_CYCLE_DISTURBANCE SHH CDKL5 TELO2 TDGF1 NODAL GLI2 CDON NRXN1 APOE STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 SIX3 TAF1 GAS1 KIF15 ATP10A PER2 CNTNAP2 GRIA3 FGFR1 ZIC2 CSNK1D DHCR7 PER3 SNRPN UBE3A RAI1 SMC1A PSEN2 HP_PROGRESSIVE_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY PLAA AARS2 COA8 SDHA KIF5A HP_DISTAL_SENSORY_LOSS_OF_ALL_MODALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_LOSS_OF_ALL_MODALITIES SPTLC2 ATL1 DHH HK1 SPTLC1 CCT5 HP_UPPER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_SPASTICITY GJC2 GBA2 CYP7B1 RARS2 WASHC5 THOC2 CLCN4 SPART ALS2 KIF5A SIGMAR1 ACTL6B SPG11 ERLIN2 ZFYVE26 SELENOI FUS PIGA HP_DYSPLASTIC_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPLASTIC_CORPUS_CALLOSUM NT5C2 HSPA9 PIK3C2A MCOLN1 ATAD3A SEPSECS GPSM2 TUBA8 SVBP EARS2 ODC1 SIN3A THOC6 TSEN2 TBCK RTTN SON DCHS1 AGTPBP1 TSEN15 PUS3 PPP1R12A TSEN34 FAT4 PIGH TSEN54 KIAA0586 NONO HP_BASAL_GANGLIA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_GLIOSIS NDUFAF3 NDUFB8 SURF1 ADAR PRNP MT-ATP6 VRK1 PDHA1 LONP1 NDUFS2 SCO2 NUP62 HP_MORNING_MYOCLONIC_JERKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_MYOCLONIC_JERKS CLCN2 JRK EFHC1 GABRA1 PRICKLE1 CSTB GABRD CACNB4 CILK1 KCNQ3 SCARB2 HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS TSEN54 ATXN1 SACS CACNA1G NOP56 HP_MOTOR_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_AXONAL_NEUROPATHY CTDP1 AAAS VCP HNRNPA2B1 WDR48 KLC2 TBCD XK C19orf12 GMPPA HMBS PEX10 SPG7 ALAD TRAPPC11 WARS1 PNPLA6 KCNK9 PLEKHG4 AIFM1 GAN HARS1 HINT1 HNRNPA1 MORC2 COASY HP_POOR_FINE_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_FINE_MOTOR_COORDINATION HTT PDHX DMPK PIEZO2 FXN PCDH19 CXCR4 STX1B MFN2 RAD51 MEG3 ALMS1 C19orf12 DLK1 SLC2A3 PWRN1 ADGRV1 RDH11 DNAL4 RAI1 HERC2 MMACHC HCN1 MKRN3 SNORD115-1 PRNP RTL1 SLC30A10 NDN PWAR1 FMR1 VCP GABRG2 ZEB2 DCC SCN1A STXBP1 FOXP2 GABRA1 SCN2A NTN1 GABRD THG1L C12orf65 GNB5 PPP2R2B DARS2 MAGEL2 NPAP1 SCN1B SCN9A SNORD116-1 SNRPN RNU12 HP_POOR_GROSS_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_GROSS_MOTOR_COORDINATION PDHX MAGEL2 POMT2 HERC2 POMT1 NPAP1 MKRN3 FOXP2 SNORD115-1 GMPPB NDN DCX KCNQ2 SNORD116-1 PWAR1 LARGE1 FKRP SNRPN PWRN1 HP_CORTICOSPINAL_TRACT_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICOSPINAL_TRACT_HYPOPLASIA IQSEC2 PDHB L1CAM FLII DEAF1 RAI1 HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER CLIP2 ARV1 NODAL TRAK1 POLA1 MED12 TBX1 GABRG2 DMD PMS2 GDI1 SLC1A2 KRAS PAH DISP1 HDC MLXIPL SIX3 KANSL1 LIG4 NECAP1 FBXW11 IQSEC1 OCRL HDAC8 SEC24C ARHGEF6 FMR1 RIC1 GTF2I DYM SCN8A DNAJC12 CIC ACTL6A MSH6 GRIN2A GNAQ SEMA3E SMC1A EPCAM GABRA1 TSC1 SHH MLH3 TBL2 GABRA2 DOCK3 AUTS2 IGF1 DEAF1 GALC GP1BB UPF3B ALKBH8 DYNC1I2 HERC2 IQSEC2 CARS1 SLITRK1 NF1 CDON PWAR1 TRIO SHMT2 NBN LIMK1 GABRB3 PTCH1 DLL1 GAS1 STS NTNG1 TCF20 SCN3A KCNA2 CACNA1A TANC2 ODC1 DHCR7 NPAP1 YY1 PRNP YWHAG NOP56 SMC3 SNORD116-1 ZIC2 DPH1 TDGF1 USP7 TKT HSPG2 CRBN RSRC1 ARF1 TGIF1 PAK3 SPRED1 KMT2E COMT KCNB1 LHCGR TSC2 CDK8 MKRN3 GLUD1 SNORD115-1 MECP2 AARS1 CRKL IFNG GRIN2D AGTR2 ABCD1 MAPK1 CNKSR2 FGF8 HOXA2 SYNJ1 NUS1 NSUN2 ZNF41 FGD1 NSD1 TAF1 FGFR3 SLC9A7 FRMPD4 UBA5 PSMD12 METTL5 NDN UBE3A GLI2 CXorf56 GALT ZDHHC9 C12orf4 ELN GATA4 BCORL1 GABRA5 FGFR1 WAC IGF2 SH3KBP1 ACTL6B FTSJ1 MAP11 HCFC1 BMPR1A DNM1 WDFY3 RAD21 CLTC PPP1R12A KIF11 CSGALNACT1 GNE TMCO1 SNRPN TET3 SMPD1 NTRK2 PHF21A SH2B1 MYT1L UFD1 FLII SIM1 TRMT1 GABRB2 KAT8 DHTKD1 RAI1 KDM3B FAN1 MED13 GTF2IRD1 RPS6KA3 SZT2 RREB1 IKBKG STXBP1 RFC2 SETD5 HIRA DLG3 PRKCG NKAP DYRK1A BCR THRB JRK DDX6 SRPX2 ZMIZ1 SOX5 HCN1 CDK19 FOXP1 STAG2 USP9X MED12L SYNGAP1 CDH2 ATP6V1A DRD5 MCTP2 TUBB2B PPM1D OPHN1 ANAPC1 SETD2 ACSL4 SATB2 GNB5 MAGEL2 RERE JMJD1C MSH2 FOXH1 TLK2 MAP1B PHIP TBL1X NLGN1 ZNF81 FGF12 TGFBR2 SIN3A NDP SLC6A8 PCNT SYP NR2F1 ASPM MID2 CACNA1H DALRD3 ARID2 SVBP APC2 ZNF711 CHRNA7 PPP3CA NIPBL PANK2 PIEZO2 AP3B2 KMT2A GRIA4 SETBP1 MLH1 CLCN4 SLC2A1 ALG13 PTCHD1 PCGF2 HMGA2 PIK3CA SLC13A5 RLIM SPG7 BPTF CHD7 ARVCF TSPAN7 PMS1 RAB39B PWRN1 MADD FLI1 DRD4 CYFIP2 WWOX HDAC4 ADNP CACNA1B USP27X ARX BAZ1B FANCD2 RPS20 EEF1A2 PLAG1 TIMM8A PARS2 KIF14 IL1RAPL1 CDKN1C SEMA4A CSNK2A1 TRAPPC4 DHDDS HP_PROGRESSIVE_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA KDM5C NDUFV2 NDUFA4 PNPLA6 MARS1 SURF1 NDUFA13 NDUFS7 CCT5 AP4M1 HACE1 KIDINS220 IBA57 SLC19A3 RAB3GAP2 CPT1C ECHS1 KY FOXRED1 FA2H AP5Z1 MT-ATP6 ATP13A2 NDUFS2 KLC2 SDHA NDUFA10 SLC33A1 SELENOI ZFR KIF1A RTN2 NDUFAF2 NDUFS3 PLP1 NDUFAF5 PET100 MTFMT NDUFAF6 FLRT1 PGAP1 AP4E1 AP4S1 NDUFS8 NDUFS1 TACO1 LIPT1 NDUFA12 NDUFS4 ARSI NDUFA9 AP4B1 NDUFV1 FARS2 PDHA1 NDUFA2 COX15 WASHC5 HP_PAIN_INSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_INSENSITIVITY TDP1 DDHD1 HDAC4 ZFHX2 SCN9A NTRK1 GRIA3 NGLY1 NGF CLTCL1 EBF3 SCN11A MPV17 HP_PSEUDOBULBAR_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_PARALYSIS NOTCH3 FIG4 ALDH18A1 CYP27A1 HMBS SRPX2 DCTN1 NEFH LMNB1 ADGRG1 PRPH ZFYVE26 TGM6 RARS1 PI4KA NONO SOD1 B4GALNT1 SEC31A HP_CEREBRAL_BERRY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_BERRY_ANEURYSM ANGPTL6 TGFBR3 THSD1 COL3A1 ENG PKD1 HP_NONPROGRESSIVE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE_ENCEPHALOPATHY PNPT1 KYNU UNC80 HSD17B10 FBLN1 HP_CEREBELLAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_DYSPLASIA POMT2 FKTN LAMA1 B3GALNT2 RAC1 ADGRG1 SRPX2 POMT1 PI4KA CDC42 KIAA1109 GPSM2 FKRP RXYLT1 COG1 THOC2 KIAA0586 LARGE1 POMGNT1 HP_GENERALIZED_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERREFLEXIA ERCC2 GTF2H5 SLC2A1 ABCD1 MPLKIP TARS1 SLC52A3 GTF2E2 EEF2 SPG7 ERCC3 RNF113A HP_HYPOPLASIA_OF_OLFACTORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_OLFACTORY_TRACT KIF7 CPLANE1 TMEM216 OFD1 SOX9 TCTN3 PDE6D FAM149B1 KIAA0753 HP_CHRONIC_LYMPHOCYTIC_MENINGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS CIITA RFXANK SLC35C1 RFX5 RFXAP HP_FOCAL_WHITE_MATTER_LESIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_WHITE_MATTER_LESIONS TSC1 C12orf65 POLG PIK3C2A RRM2B ADNP MTOR ZEB2 TSC2 TREX1 RNASET2 POLG2 SLC25A4 TWNK PDP1 HP_LARGE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BASAL_GANGLIA DCPS NSUN2 IQSEC1 ATR MED23 FMN2 GRIK2 B3GALNT2 AIMP1 SARS1 METTL23 WASHC4 ZEB2 TUSC3 PGAP1 CRBN SLC45A1 TECR MBOAT7 MAN1B1 TNIK CC2D1A ST3GAL3 EZR FRRS1L EDC3 C12orf4 PRSS12 CLIP1 KDM5B HNMT TRAPPC9 LINS1 TUBB3 PIGC CRADD ZC3H14 RSRC1 LMAN2L NDST1 FBXO31 MED25 HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES RNASEH2B NOTCH3 ADAR SAMHD1 RNASEH2C SLC25A15 PUS3 RNASEH2A TREX1 GAA D2HGDH TRAPPC9 IFIH1 HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA GABRD SCN1A GABRG2 HCN1 STX1B TBP SCN2A SCN9A SCN1B SRCAP PLA2G6 ADGRV1 HSD17B4 HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY MT-ND4 SPG11 MT-CO1 HADHA MT-ND5 DKK1 HADHB MT-TW MT-ND6 MT-CO3 MT-TL1 MT-ND1 MT-TS2 GSN MT-TF MT-TQ MT-CO2 MT-TH IBA57 HP_INFERIOR_VERMIS_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_VERMIS_HYPOPLASIA BMP4 PIEZO2 GRM1 LAMA1 BRF1 MDH1 L1CAM INTS1 HP_THICK_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_CORPUS_CALLOSUM PRMT7 CNOT3 ODC1 HERC1 SZT2 PIK3R2 VPS13B KDM3B HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY RNASEH2B ADAR MAPT SAMHD1 ATP6AP2 RNASEH2C TAF1 HLA-DQB1 RNASEH2A TREX1 PRNP MICU1 OPA3 IFIH1 HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS SORD TRPV4 ATXN1 MPV17 HK1 HSPB8 MORC2 FXN DHX16 VPS13A HP_DILATED_THIRD_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_THIRD_VENTRICLE C2CD3 KIAA0586 ODC1 USP7 MED25 ATP6AP2 CSPP1 DNMT1 HP_HYPERACTIVE_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_PATELLAR_REFLEX HARS1 ATP13A2 SDHB SDHAF1 ALDH18A1 ARL6IP1 SDHA SACS COX4I1 PGM3 SDHD C19orf12 NONO IBA57 HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION APOL4 HTR2A SYN2 RTN4R CREBBP EP300 APOL2 MTHFR DRD3 COMT MAPT CHI3L1 DAOA HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION FGFR2 NOVA2 SKI MAF ZEB2 CREBBP SETBP1 PAX2 DNMT3A SLC39A14 DKK1 POLR3A NOTCH3 SMO EP300 ELN MLXIPL NFIA CDC45 KANSL1 PPP1CB NONO HRAS DHDDS HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI TREX1 POLG TYMP FDXR PSAP UBE2A LAMA2 ZEB2 GFM2 GALC ADSL SAMHD1 HP_INFANTILE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ENCEPHALOPATHY SLC19A3 TSEN54 TK2 D2HGDH ZNHIT3 GCDH CCDC88A STXBP1 HP_DEMYELINATING_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY RNASEH2B ADAR MT-ND4 MT-ND6 SPTBN4 MT-TW MANBA MT-TL1 MT-ATP6 PLP1 ERCC4 ERCC6 MT-ND1 DMXL2 RNASEH2A TREX1 ACO2 RNF168 BAG3 MT-ND2 HK1 ERCC8 PMP22 POLG DNAJC3 SAMHD1 GJC2 ERCC5 RNASEH2C MT-ND3 DEGS1 ERCC3 RFC1 MT-TV SACS RRM2B HARS1 MT-TK ZFYVE26 SOX10 MT-ND5 IFIH1 SELENOI ERCC2 AFG3L2 TYMP HP_PERIVENTRICULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_CYSTS CPLX1 FGFRL1 PDHB LETM1 ODC1 LIPT2 PDHX OCRL NSD2 CTBP1 FARSA HP_CENTRAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOVENTILATION NDUFAF3 NDUFB8 DCTN1 MYPN SURF1 ASCL1 PHOX2B NDUFAF2 HOXA1 EDN3 RET GDNF TPM2 MECP2 NDUFS2 TPM3 SCO2 HP_TEMPORAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_CORTICAL_ATROPHY VCP RNU4ATAC PSEN1 OPHN1 CYB5R3 CAMTA1 CPA6 COG1 GRM7 NEK1 GRN MAPT CYB5A TMEM106B ABCA7 PDE6D ADARB1 TREM2 C9orf72 CHMP2B HP_PROXIMAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_AMYOTROPHY TNNT1 SYNE1 ANO5 HNRNPDL TMEM43 SYNE2 TRPV4 LMNA REEP1 DYNC1H1 SLC52A2 FKTN EMD DOK7 ADSS1 COL12A1 MYOT STIM1 TFG TNXB COL6A3 GFPT1 FKRP SGCD POMT2 POMT1 CAPN3 MYH7 SMN1 FUS FHL1 SGCB MGME1 RYR1 MT-TE COL6A2 TCAP DYSF MORC2 COL6A1 PEX6 CRPPA HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY LYST PSAP ABCA1 ARSA COA8 HP_SENSORIMOTOR_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORIMOTOR_NEUROPATHY SCYL1 MT-ND4 SLC52A2 DNM1L MT-ND5 PDYN MT-TW PNKP ABHD12 UCHL1 PPP2R2B PIGB IARS2 MT-ND1 TFG PLA2G6 NGLY1 DNAJC3 MME GBA2 PDK3 CLP1 ABCD1 GALC HADHB MT-ND6 PEX7 RFC1 PSAP SACS RRM2B HSD17B4 MT-TF PIK3R5 OPA1 IGHMBP2 KIF1A GJB1 MT-TL1 MT-ATP6 LAMA2 MT-CO3 XRCC1 CLCF1 NEFL MT-ND2 IFRD1 COA8 AIFM1 MT-TQ COA3 AHCY MT-TH POLG B4GALNT1 AFG3L2 RNASEH1 SPTLC2 TDP1 MT-CO1 HADHA DHH MT-ND3 AMACR NEFH KIF5A MT-TV RPIA SLC30A10 PHYH MT-TS2 ATP1A1 MT-TK SETX MT-CO2 MPV17 PEX6 MRE11 FDX2 TYMP HP_DISTAL_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_AMYOTROPHY MATR3 SPG11 REEP1 FLNC GDAP1 RYR1 FXN SLC39A13 TRPV4 ALS2 NGLY1 SLC52A3 CAV3 LDB3 BSCL2 CPLANE1 SVBP GARS1 SQSTM1 INF2 VCP KLHL9 PLOD3 PDK3 DCTN1 CEP126 DYSF ACTA1 HARS1 GJB1 HINT1 KANSL1 SLC25A21 TIA1 HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER GAMT CLPB ZNF592 ATP13A2 MICU1 RARS1 FA2H WDR73 PLA2G6 HP_FLUCTUATIONS_IN_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUCTUATIONS_IN_CONSCIOUSNESS NDUFAF3 MT-ND4 NDUFB8 SLC25A13 MT-CO1 SNCA MT-ND5 SURF1 MT-TW MT-ND6 GBA MT-CO3 SNCB MT-TL1 MT-ND1 MEN1 MT-TS2 MT-TF MT-TQ MT-CO2 NDUFS2 MT-TH SCO2 HP_SLOWED_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOWED_SLURRED_SPEECH DNAJC6 PODXL SYNJ1 MAPT SPG7 HP_PERIVENTRICULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_HETEROTOPIA C2CD3 PDHB ARF1 ERMARD DHX16 CPLX1 MAN1B1 ZEB2 ARFGEF2 DHCR7 DCHS1 SLC25A24 ZMIZ1 TBC1D24 RTTN KAT6B FLNA APC2 TMTC3 INTS8 MAP1B CSF1R CDH2 VPS35L FMR1 FAT4 NEDD4L CSGALNACT1 KAT8 ZSWIM6 ANKRD11 HP_PAROXYSMAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSKINESIA SLC2A1 PRRT2 KCNMA1 GRIN1 PNKD SCN8A HP_MOTOR_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_POLYNEUROPATHY MYO9A SPG11 CTDP1 VAMP1 REEP1 SLC12A6 LYST HMBS TFG ARL6IP1 CHAT SLC25A1 BSCL2 CPOX TRPV4 SCO2 AGRN PRPS1 SNAP25 COL13A1 GJC2 ALDH18A1 SYT2 GARS1 SYNE1 HINT1 SLC5A7 SLC18A3 SELENOI PPOX HP_PERIPHERAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPOMYELINATION EGR2 FIG4 CTDP1 SOX10 KCNJ10 DHX16 GDAP1 HK1 HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION MT-ND4 MT-ND6 NDUFV2 NDUFA4 PDSS2 NDUFAF2 SURF1 MT-TW NDUFA13 NDUFS3 MT-TL1 NDUFS7 MT-ATP6 NDUFAF5 PET100 MTFMT MT-ND1 NDUFAF6 MT-ND2 COQ2 NDUFS8 NDUFS1 SLC19A3 PRNP ECHS1 TACO1 SUCLG1 LIPT1 NDUFA12 FOXRED1 ETHE1 MT-ND3 NDUFS4 NDUFA9 MT-TV MT-TK NDUFS2 SDHA NDUFV1 NDUFA10 PDHA1 NDUFA2 MT-ND5 COX15 HP_LOSS_OF_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_CONSCIOUSNESS KCNE1 KCNQ1 TBK1 SLC19A3 STAT6 UNC93B1 NAB2 NOTCH3 GCDH ACADM TICAM1 CPT1A GK TLR3 MTRR NAGS MT-CYB NOTCH2NLC TRAF3 HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX TARDBP VCP PC SQSTM1 C9orf72 TBK1 FUS CHCHD10 HP_PROGRESSIVE_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPARESIS CPT1C GALC TBCE FA2H SELENOI SPG7 HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES SIK1 NDUFAF3 GNAO1 PLP1 ARX FKRP SURF1 SCN1B STXBP1 HTRA1 NEUROD2 NDUFS2 SCN2A SLC25A22 HERC1 TIMM50 VPS11 HEPACAM POMGNT1 NDUFB8 PLEKHG2 KCNA1 GRIN1 POMT2 DMXL2 PIGP POMK POMT1 CASK CDKL5 TRIM8 PIGQ PNKP SCO2 GMPPB HP_HEMIMEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIMEGALENCEPHALY NRAS TSC1 KRAS IFNG MTOR SMO TSC2 AKT3 PTEN HRAS DEPDC5 HP_FACIAL_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_PARALYSIS SCN1A COL4A1 PRRT2 TCIRG1 CACNA1A TNFSF11 ATP1A2 CLCN7 HP_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_AMYOTROPHY KDM5C ATXN3 ANO5 ATL1 MFN2 MAG TPM3 HSPB1 FAM126A KAT6A BSCL2 GNE CPT1C KY PDK3 TPM2 CUL4B FARS2 HINT1 KLC2 FITM2 SLC33A1 ADSS1 FLNC FGD4 RTN2 GJB1 TFG FLRT1 HK1 INF2 CYP7B1 KIF1A MYPN ATAD3A NEFH ARSI BICD2 RYR1 KIF5A MT-TE PLP1 TCAP YY1 DYSF MORC2 FBXO38 LMNA HP_MACROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGYRIA ACTB PHGDH FKTN NFIX POMGNT1 POMGNT2 ACTG1 DAG1 POMK DHCR24 POMT1 LARGE1 FKRP CRPPA PLP1 B4GAT1 B3GALNT2 PSAT1 COL4A1 RXYLT1 POMT2 CASK PEX2 HP_PROGRESSIVE_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_GAIT_ATAXIA GJB1 STXBP1 ATXN3 ANO10 ARSA PEX10 PCDH19 PSAP SCN1A GABRA1 SETX MTPAP SCN2A CACNA1A POLG PRRT2 TPP1 UBE3A FA2H EEF2 SPTBN2 ALDH18A1 SCN1B SACS ATP13A2 MT-ATP6 TWNK ATP1A2 GABRG2 SCN9A HP_ABNORMAL_PYRAMIDAL_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PYRAMIDAL_SIGN RNASEH2B HSPD1 SLC2A1 SQSTM1 FKRP HTT ATXN10 ABHD12 MCOLN1 ERLIN1 AP4M1 SLC25A15 ADGRG1 SETX PDGFRB MAG DMD WWOX KIF5A PRPS1 PMS2 GDI1 ATXN7 TTPA ACOX1 NDUFS7 KRAS KY SAMHD1 ATL1 NDUFA13 RTN2 ALDH18A1 FUS ATP13A2 TSEN15 VCP SLC33A1 SELENOI STAT4 DNMT1 CAPN1 KIF1A SPG7 PYCR2 NUBPL ARSA FAM126A IL23R ARHGEF6 SEPSECS GBA2 SPART HTRA1 B4GALNT1 CCT5 ATXN3 TGM6 DNAJC3 BRAT1 MSH6 HPDL NEFH EEF2 GAN SACS COQ2 MYORG SLC20A2 ABCB7 EPCAM MLH3 PCYT2 FXN SNX14 PET117 ADPRS GFM2 ZFYVE27 FTL UPF3B DNM1L TBK1 FUCA1 KCNA4 RUSC2 SDHAF1 HADHB UBAC2 IQSEC2 SCN1A CYP2U1 SDHA CARS1 PSEN1 SYNE1 NUP62 SHMT2 COQ8A ADD3 ASPA CLPB CYP27A1 MPLKIP TPP1 MORC2 GRIA3 SLC39A14 IL12A C12orf65 NFASC RNASEH1 SLC44A1 PANK2 RNASEH2C TACO1 DDHD1 C4A CAMTA1 UBTF MT-ATP6 NOP56 IFIH1 MTFMT GJC2 PDYN KIF1C TARDBP KCNC3 EPRS1 EIF2S3 TBP TYROBP CNTNAP1 IBA57 PEX7 SLC2A3 CACNA1A GLRX5 PAK3 GRM1 COL4A1 AAAS RFC1 CCR1 VWA3B MECP2 SOD1 JAM2 SPG11 VPS13C GMPPB CTDP1 UGDH ATN1 BSCL2 SLC1A4 AGTR2 AP4S1 LARGE1 CYP7B1 CNKSR2 PPP2R2B ETHE1 SLC16A2 PLP1 L2HGDH CHCHD10 WASHC5 ERCC2 AP4B1 AIFM1 EXT2 PSAP COX20 GTF2H5 SPG21 ERAP1 MAN2B1 ZNF41 CACNA1G DPM3 CPT1C SLC9A7 FA2H FRMPD4 GBE1 CXorf56 ZFR MEFV HLA-B PRKRA SLC19A3 AIMP1 NT5C2 IREB2 AP4E1 PARS2 SDHB SYNJ1 PIGT POMT2 FTSJ1 HCFC1 NAGA BMPR1A ATXN8OS NKX6-2 COA8 TSEN2 KCNA1 NDUFA4 NDUFS4 MAPT ATP6AP2 ALS2 RNF113A SLC6A3 PODXL CTSF MFN2 MTPAP NIPA1 ABCD1 CTC1 TTBK2 DDC POLR3A GAD1 NDUFS2 EXT1 DLAT FAN1 GTF2E2 IL10 FAS RPS6KA3 PDGFB THG1L GM2A PNPLA6 SPAST TRMT5 DARS2 AFG3L2 DPYS SLC25A46 NALCN DLG3 SIGMAR1 OPA1 IDUA KDM5C C19orf12 ADAR UBAP1 ERLIN2 PEX10 TFG GCH1 SNCA LMNB1 BCAP31 DKK1 FBXO7 USP9X SOX10 TH TAF2 POMK FARS2 BCAT2 TMEM63A TSEN54 CNP POLR3B RNF170 GRID2 MED12 PGAP1 ACSL4 RTTN HADHA IL12A-AS1 REEP2 PLA2G6 MSH2 ERCC3 DNAJC6 ZNF81 SDHD TGFBR2 POMGNT1 GPT2 DARS1 DSTYK SYP OPA3 REEP1 DDHD2 GJB1 SCN1B MID2 MDH2 PLAA ZFYVE26 ALG13 TBC1D24 ZNF711 DMXL2 TREX1 SAMD9L NEFL PRICKLE1 TTC19 TMEM106B DEGS1 VPS13D MLH1 TARS1 NDUFS1 CLCN4 PIK3CA TLR4 UCHL1 RNASEH2A PTCHD1 TSPAN7 PMS1 RAB39B PRNP ATXN1 GALC CAV1 USP27X ARX TSEN34 CHP1 PIK3R5 KLRC4 SLC12A5 RPS20 SNORD118 TIMM8A C9orf72 ALDH3A2 CHMP2B ELOVL4 TANGO2 PHYH IL1RAPL1 PRSS12 RRM2B MTTP POMT1 SEMA4A MT-TE TREM2 RORA VAMP1 CWF19L1 HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER TRMT10A PPP1R15B PIGG L2HGDH MMACHC PRPS1 PYCR2 HP_TYPE_II_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_LISSENCEPHALY POMT2 FKTN B3GALNT2 FKRP POMT1 LAMB1 POMGNT1 POMGNT2 B4GAT1 RXYLT1 CRPPA POMK LARGE1 TUBB3 GMPPB HP_CEREBRAL_DYSMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_DYSMYELINATION GTF2H5 MPLKIP ADGRG1 GTF2E2 MCOLN1 ERCC3 RNF113A ERCC2 PHGDH TARS1 SOX10 PLP1 PSAP HSD17B4 HP_CHRONIC_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_AXONAL_NEUROPATHY HSPB1 B2M SYNE1 SETX SPTLC1 COG8 KCNJ10 HP_SPINAL_MUSCULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_MUSCULAR_ATROPHY VAPB EXOSC8 TRIP4 DNAJB2 VRK1 TK2 ASCC1 SMN1 TBCE ASAH1 BICD2 SMN2 TRPV4 UBA1 IGHMBP2 KCNK9 PLEKHG5 DYNC1H1 ATP7A SIGMAR1 MORC2 FBXO38 CHCHD10 HP_ATYPICAL_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATYPICAL_ABSENCE_SEIZURE FRRS1L STXBP1 MAPK10 CHD2 SRPX2 PCDH19 NHLRC1 GRIN2A GABRG2 GABRA1 ZEB2 KCNMA1 DNM1 SCN2A KCNT2 AP2M1 SCN1A GABRB3 EPM2A UBE3A SCN1B CEP85L PAFAH1B1 CUX2 SCN9A HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION HEXB ARSA SDHB SDHAF1 PSAP BSCL2 PMPCA SDHA SDHD KCTD7 GLB1 HP_DEVELOPMENTAL_STAGNATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_STAGNATION ST3GAL5 STXBP1 GABBR2 MCOLN1 CDKL5 MECP2 ACER3 KIF5A PHGDH PTPN23 NUP62 ACAN ZNHIT3 SCN1B RARS1 VPS11 NTNG1 POLR2A GLB1 HP_LIMB_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_FASCICULATIONS SMN2 VCP HINT1 SMN1 HSPB1 HP_POSTERIOR_FOSSA_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_FOSSA_CYST FGFR2 WASHC5 FKTN FKRP CSPP1 POMT1 GDF6 ABAT VSX1 LARGE1 POMT2 DPH1 HP_OROMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMOTOR_APRAXIA SHH TDGF1 NODAL FOXP2 GLI2 CDON DDOST STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 SIX3 FOXP1 GAS1 ADGRG1 TUBB2B FGFR1 SRPX2 ZIC2 PI4KA VPS11 SMC1A HP_CNS_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_DEMYELINATION TREX1 PRF1 PIGG PDYN GFAP ERCC6 MAT1A EIF2B1 HTRA1 EIF2B5 HLA-DRB1 ACOX1 SDHA CSF1R TRMT10A EIF2B2 PSAP PRPS1 PPP1R15B EIF2B4 ABCD1 GALC ATXN2 ASPA L2HGDH ALDH3A2 MMACHC LRPPRC INSR RERE PYCR2 TREM2 MTTP PDCD1 ADAT3 SUMF1 ERCC8 ERCC1 EIF2B3 PEX19 HLA-DQB1 HP_EXTRAPYRAMIDAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_DYSKINESIA ACAT1 SLC2A1 TSEN2 C9orf72 TSEN54 DPYS HP_SHORT_STEPPED_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STEPPED_SHUFFLING_GAIT COL2A1 ATXN8OS SNCAIP SYNJ1 DCTN1 ATXN2 MAPT DNAJC6 PRKAR1B PODXL TBP TRPV4 GLUD2 NR4A2 ADH1C GBA HP_GENERALIZED_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_DYSTONIA HPCA FA2H TUBB4A TH THAP1 MRPS25 ACTB SUOX TIMM8A GCH1 JAM2 PANK2 HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY MT-ND4 ATP7B MT-CO1 MT-ND5 MT-TW MT-ND6 MT-CO3 MT-TL1 MT-ND1 MT-TS2 MT-TF MT-TQ MT-CO2 MORC2 MT-TH HP_IMPAIRED_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PAIN_SENSATION CDKL5 ZFHX2 SCN9A CCT5 CHAMP1 DEAF1 LIFR KCNQ1OT1 MFN2 H19 SHANK3 HSPB1 IGF2 PWRN1 MADD GABBR2 DDHD1 HDAC4 MECP2 HERC2 FLII HNRNPK MKRN3 FBN1 SNORD115-1 ELP1 SCN11A NDN PRPS1 PWAR1 NTNG1 RAI1 ZEB2 NTRK1 GRIA3 SORD NGLY1 NGF IQSEC2 HK1 AIFM1 STXBP1 TDP1 MAGEL2 NPAP1 OPA1 CLTCL1 UBTF HARS1 EBF3 GJB1 SNORD116-1 MPV17 SNRPN ABCA1 HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES CIT KIF14 WDR62 KNL1 STIL TAF13 MAP11 MCPH1 CEP63 FIG4 CDK6 SASS6 FDXR METTL5 BRAF NCAPD3 DHCR7 ANKLE2 CDK5RAP2 RTTN RNU4ATAC PYCR2 PHC1 CEP152 MFSD2A SLC35C1 ASPM COPB2 CEP135 CENPJ ARHGEF9 VAC14 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET SLC22A5 KCNJ11 KCNMA1 PDSS2 GRIN2A SLC12A5 SRPX2 NHLRC1 GABRG2 COQ2 RELN SCN2A KCNQ2 KCNQ3 EPM2A PUS3 SCN8A MICAL1 CEP85L LGI1 PRRT2 HP_HYPERMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETRIC_SACCADES XRCC1 ANO10 VPS13D ATXN1 GRM1 GDAP2 TPP1 HP_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_MUSCLE_WEAKNESS SPG11 VAMP1 REEP1 PNPLA6 TRAF7 TERT PIEZO2 SPART MAPT SLC25A1 ASAH1 BSCL2 SMARCE1 MFN2 RASA1 TRPV4 TPM3 CYP7B1 GNE PMP22 KIF5A IBA57 FHL1 MME EXTL3 AP5Z1 COL13A1 DDHD1 ATL1 PDK3 DCTN1 RTN2 DSTYK TPM2 MT-ATP6 SARDH DDHD2 SLC33A1 DGUOK CAPN1 SPG7 ZFYVE26 FGD4 ANO5 SORD GBA2 HK1 ABCD1 MYH7 NF1 TDP1 SPAST MYPN DES SUFU MTHFR PLP1 NEFH WASHC5 GARS1 SYT2 GMPPB BAP1 CACNA1S DYSF HARS1 TCAP ERLIN2 SMARCB1 ALDH18A1 FBXO38 HSPD1 LMNA SPG21 PLEC TTN ADAR PNKP HSPB8 GABRA3 NF2 ZFYVE27 FLI1 HSPB1 PDGFB KCNJ10 FAM126A CPT1C SNAP25 GALC HADHB CAPN3 CAV1 SYNE1 HINT1 CHCHD10 SLC5A7 NUP62 ADSS1 MYO9A HSPB3 AKT1 CHAT KCNJ18 C12orf65 FLNC VHL SCO2 AGRN KIF1A HADHA MTTP SCYL1 PIK3CA MYH14 L1CAM NIPA1 PRNP MORC2 SLC18A3 SMO AFG3L2 HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM FGFR2 GRIN2B CAMK2B KDM5B KCNQ5 GRIN1 DEAF1 CAMK2A PCDH19 NEK1 KIRREL3 TBC1D24 RAD51 BRSK2 SLC35A2 CLTC DNAL4 RNU4ATAC CARS2 EEF1A2 MBD5 SET NR2F1 HIVEP2 ZMYND11 GABRG2 ZEB2 PPP3CA CIC DYNC1H1 DCC STXBP1 TRPM3 CAMTA1 CPA6 TAOK1 GRM7 CPLX1 EPB41L1 GABRA1 MYT1L ABCA7 NDE1 CDH15 CSNK2B SCN2A CUX1 NTN1 CHAMP1 OSTM1 CACNG2 SCN1A KIF1A VPS13A ASH1L DOCK8 SYNGAP1 SCN1B VPS51 TUBB3 TCF4 RAB11A MED12L SCN9A HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD POLG CYP7B1 PNPLA6 LYST FXN MTHFR MMACHC FA2H SPG7 ALDH18A1 TWNK CCT5 MORC2 LMNB1 DNAJC3 HP_HYPERREFLEXIA_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA_IN_UPPER_LIMBS CAPN1 ATP13A2 REEP1 RTN2 ERLIN2 SDHB SPAST SDHAF1 ALDH18A1 HSPD1 VPS37A KIF5A SDHA FTL SDHD HP_UPPER_LIMB_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_POSTURAL_TREMOR MPZ CARS2 PMP22 TUBB4A CACNA1G ANO3 ITPR1 COL6A3 HP_CEREBELLAR_CALCIFICATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CALCIFICATIONS PDGFB ERCC8 ERCC6 SLC20A2 PDGFRB JAM2 HP_AMYOTROPHIC_LATERAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYOTROPHIC_LATERAL_SCLEROSIS MATR3 SETX TARDBP ANG VCP VAPB PPARGC1A CHMP2B SIGMAR1 PRPH OPTN NEK1 FIG4 TUBA4A UNC13A SOD1 CHCHD10 UBQLN2 GLT8D1 PON3 ALS2 ATXN2 CFAP410 SPG11 C9orf72 TREM2 ERBB4 FUS HNRNPA1 KIF5A HNRNPA2B1 TBK1 PON1 TRPM7 EPHA4 NEFH MAPT TAF15 DAO CCNF DCTN1 PFN1 GLE1 SQSTM1 PSEN1 ANXA11 PON2 HP_FOCAL_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_ONSET_SEIZURE DCPS IQSEC1 UNC93B1 CLN8 GLI3 ATXN10 GNB1 STRADA ARFGEF2 SMARCE1 MBOAT7 RELN KCNQ2 EXTL3 STX1B GABRA1 C12orf4 AP2M1 CARS2 KCNA1 KCNQ3 BTD GRIN1 CLIP1 HCN1 AP3D1 EPM2A MT-ND1 MBD5 KANSL1 PIGQ PAFAH1B1 ZMYND11 MARCHF6 NDST1 GABRG2 ARHGEF9 SIK1 SLC25A10 MED23 CPA6 ARF1 TBC1D24 TAOK1 CYP26C1 CRBN POGZ TGFB1 MYT1L COQ2 CSNK2B SCN2A FRRS1L SLC25A22 BRAT1 GAL CACNG2 MT-CO1 TMTC3 TBCK MTHFR PCDH19 GRIN2A PRSS12 PNPLA8 ASH1L GABRB3 BAP1 MT-TS2 CRADD PRRT2 CEP85L SMARCB1 SCN1A SCN9A PNKP CUX2 CAMK2B CDKL5 PCYT2 PDSS2 FIG4 DEAF1 FMN2 MT-ND5 WASHC4 SRPX2 NARS1 SLC45A1 CACNA1A NGLY1 PDGFB BRSK2 TBK1 CLCNKB DYNC1H1 SDHAF1 MT-ND6 PYCR2 SDHA CDH2 SCN8A ATP1A2 TUBB2B FBXO31 SLC22A5 KCNT1 GRIK2 OPHN1 SARS1 AKT1 SETD2 METTL23 CHD2 CPLX1 SCN1B MT-TL1 EPB41L1 FOXG1 NEUROD2 CDH15 SYN1 PURA MT-TH ACSF3 GABRD GAMT VAMP2 SMS KIF1A KDM5B MAP1B DOCK8 GRIA2 SYNGAP1 CAMTA1 CRIPT TUBB3 ZC3H14 RAB11A MED12L KCTD7 SMO STXBP1 NSUN2 TRAF7 TERT DMXL2 NHLRC1 PTPN23 DOCK7 SDHD CC2D1A CLTC SMC1A TSC2 PIGP FA2H HNMT VPS35L NF1 MT-TF TRIM8 HIVEP2 SAMD12 CNTN2 MED25 KCNJ11 PPP3CA B3GALNT2 TRPM3 MT-CO3 SLC13A5 TUSC3 PGAP1 APC2 ZEB2 TREX1 MT-TQ MAN1B1 TNIK RPL10 VPS11 TRAF3 EZR EDC3 SUFU SZT2 TLR3 CLCN4 LINS1 NEDD4L DCX LMAN2L RARS1 POLG DNM1L TSC1 GNAO1 GRIN2B CHRNA4 KCNQ5 KCNMA1 TICAM1 CAMK2A AIMP1 MAPK10 PHGDH ERMARD GALNT2 ADRA2B KIRREL3 CTNND2 NF2 HACE1 AP4S1 ST3GAL3 ADGRV1 YEATS2 FLNA CACNA1D NSD1 GABRA5 EEF1A2 TRAPPC9 ADGRG1 PUS3 CASK SET POLR3A RSRC1 LGI1 MTOR CIC ARX SLC12A3 MT-TW SLC12A5 WARS2 EXOC7 TECR PLCB1 DNM1 LAMA2 CUX1 PI4KA CHAMP1 MT-ND4 TANGO2 TMEM231 SDHB PIK3CA PIGC TCF4 MICAL1 MT-CO2 PACS1 CNTNAP2 SEC31A HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM WDR35 FKRP SOX4 BUB1B SMPD4 ADGRG1 KIAA1109 TP53RK TINF2 ARID2 FGFR1 TRMT10A BICD2 SASS6 CCDC22 GMPPB TSEN15 MLXIPL LARGE1 DMXL2 FGFR2 KIF14 HDAC8 MT-TK MYO7A RAC1 SEPSECS MT-TE ABAT GPX4 TSEN54 DHFR KIAA0586 ERF WHRN PLK4 KIF7 EOMES USH2A SEMA3E B3GALNT2 MSTO1 AP1S2 BRF1 EPG5 TMEM67 PAFAH1B1 SNX14 CTNNA2 MAN1B1 CEP55 GFM2 INPP5E SMC1A ADGRV1 NELFA DYNC2H1 ITPR1 DYNC1H1 MUSK RBBP8 PPP1R15B FRMD4A DYNC2I2 ERCC5 MYO5A GPAA1 POMT2 VAC14 CASK POMT1 MAST1 CIB2 DHX37 ERCC1 TSEN34 YME1L1 DHCR7 CARS2 CAMTA1 POMGNT1 SMC3 MARS2 MAB21L1 STAT2 RPGRIP1L STAG2 PIGG PDHB POMK LAMB1 PI4KA DPF2 TUBB2B PMM2 DISC1 PROKR2 PIGA CHMP1A LETM1 CEP104 GPKOW RHOBTB2 PDZD7 FLNA PCDH15 COL4A1 COL3A1 TUBGCP6 BUB3 RBM10 MT-TL1 ERMARD HDAC6 VANGL2 ZEB2 VRK1 SMARCD1 AHCY RPL10 FGFR3 RTEL1 FKTN B4GAT1 PIK3CA POLR3A ACD EHMT1 ESPN NONO HSD17B4 ATP6V1A SOX3 NDUFA6 SLC25A1 SLC25A24 SLC9A6 TAF1 MACF1 GJA1 KMT2C ASNS WDR26 SMARCE1 DPM2 WDR81 ARID1A OPHN1 GJB6 PPP2R1A BMP4 RNF113A STUB1 IFT80 TRIP13 DAG1 EXOC7 CIT SMARCC2 WAC TBCK ATP6V1E1 ATP6V0A2 INTS8 PIGT GJB2 TERT ROGDI NAGA HESX1 RAD21 SMARCB1 TSEN2 TRAPPC9 PACS1 AFG3L2 CACNA1G RPS6KA3 GLI3 C2CD3 MKS1 CEP120 USP9X DOCK6 ATCAY PARN TKFC MAPK8IP3 RXYLT1 BUB1 PIEZO2 OCLN NSD2 POMGNT2 USP18 NRAS SLC25A19 TMEM107 ARSI MGME1 CRPPA CDH23 PHGDH CENPE PGAP1 JAM3 L1CAM WNT1 WASHC5 USH1C ERCC6 TCTN2 SETD5 APC2 ATG5 SON ARID1B SMARCA4 PTRH2 RELN POLA1 OTX2 PTF1A MBTPS2 COASY INPP5K TUBB3 VPS13B VLDLR USH1G TAPT1 CC2D2A ZNF592 SIL1 SLC35A2 NDP SLC1A3 GPHN ARNT2 NFIX ASPM CDK5 SOX11 NDE1 MYMK SUFU FIG4 TOE1 MAP2K2 NIPBL HERC1 KMT2A MTHFR ROBO3 CEP57 CSF1R PMPCA PLP1 ATP5F1A CENPF DYNC2I1 TWIST1 OXR1 ATP2B3 PRRX1 ATAD3A RAB3GAP1 MFSD2A TERC CDC42 CHD7 IER3IP1 WDR73 RARS2 TUBB PLG TUBGCP4 ELN HRAS CSPP1 COQ4 FLVCR2 SIX3 GPSM2 KRAS RTTN ERCC2 SOX2 L2HGDH ATXN2 PIGU CWF19L1 PCLO DKC1 SAMD9L RORA PSAT1 ZBTB11 RBM8A HP_ABNORMALITY_OF_THE_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PONS ATXN8OS LAMA1 BRF1 PMM2 EPG5 FKRP ADGRG1 FGF8 POMT2 WNT1 SNX14 DLL1 ARHGEF2 FOXH1 DOCK7 NPHP1 FLI1 TSEN54 POMGNT1 GMPPB ZIC1 TSEN2 PIGA INPP5E APC2 TMEM216 CSPP1 DAG1 GALC PTCH1 GPHN POMT1 POMK ASNS TSEN15 SACS MDH1 TSEN34 TRAPPC12 DISP1 STUB1 TMEM67 TOE1 NODAL LARGE1 RELN TUBB2B PPP2R1A CDON B3GALNT2 TGIF1 SEPSECS POGZ VRK1 UBE2A AHCY SLC5A6 RTTN KIAA0586 ZIC2 ATXN2 CEP290 SIX3 TDGF1 ROBO3 SHH PCLO RERE VPS51 GAS1 GLI2 AHI1 MAB21L1 HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM KIF1A SPTAN1 ATXN1 DNM1L DNAJC19 TWNK TBP GFM2 CACNA1G FA2H DNAJC3 SLC35A2 TRRAP COG5 RARS2 COG8 DEGS1 TBCD ZNHIT3 SYNE1 TRAPPC6B FARS2 OPA1 DNMT1 HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM LYST DCPS CLIP2 NFIX UNC80 PUF60 TRAK1 VCP ACER3 AP4M1 FDXR PPARGC1A TINF2 LYRM7 NADK2 SLC9A6 BCS1L ATXN7 SLC1A2 C12orf4 SPATA5 BICD2 KCNA1 XPC DDB2 MMACHC CYFIP2 EPM2A MAPT GLB1 CTNS PHACTR1 TOMM40 TREM2 PIGQ IDS POGZ GABRG2 DNMT1 SIK1 TBC1D20 HDAC8 FRMPD4 SNRPN GRN ATXN2 FMR1 SPG7 SBF1 EMX2 GBA2 TGFB1 B4GALNT1 NDE1 CTSD DSE MRM2 ADH1C ACTL6A BRAT1 NDN WHRN VPS13A FUCA1 ALG3 USH2A HEPACAM TANGO2 PSEN2 RNASEH2B SPTAN1 PCYT2 EPG5 TBL2 MT-ND5 GABRA2 FXN ALG9 WASHC4 TWNK ADPRS SLC45A1 GFM2 NRROS TIMM50 BRSK2 ADGRV1 GRID2 CSF1R TXN2 COL18A1 PSEN1 MT-ND6 CPLX1 PMPCA SCN1A PYCR2 OCLN ERCC5 MYO5A CARS1 GOT2 SYNE1 TREX1 KANK1 NUP62 VAC14 FBXO31 ERCC8 RAB3GAP2 LIMK1 TRAF7 CLPB SHPK KIF5A SARS1 FIG4 NHLRC2 GRM7 MBTPS2 SCN1B MT-TL1 ALG11 CLN6 NDUFS2 COG7 CACNA1A GABRD CCNF NARS2 SPECC1L LAGE3 GALC TMEM70 CARS2 ATP13A2 CEP126 PON2 MT-ATP6 ZC3H14 YWHAG DMPK SMC3 MARS2 RAB11A MED12L STXBP1 NSUN2 PTCD3 PIGG KDM5B GRIN2A GRIN1 KIF1C TARDBP ABCA7 NOVA2 EPRS1 CISD2 MAF KIF7 TYROBP MOCS1 YWHAE GNAO1 NR4A2 OPTN GLUL PIGA KMT2E UFM1 KCNB1 HRAS GPKOW PANK2 RHOBTB2 PDZD7 FA2H POMT1 POLG CLCN4 MT-TF PCDH15 C9orf72 TUBGCP6 MED25 VPS13C FOLR1 AUH CTDP1 AARS1 TECPR2 NAA10 PSAP SERAC1 TRPM3 GRIN2D BSCL2 NTNG2 PIGS PIGL MUC1 WIPI2 PRKAR1B HECW2 PDHA1 MAN1B1 ABCD1 PQBP1 AP4S1 RTEL1 RAB23 ACTB EXOSC3 CYP7B1 EDC3 IGHMBP2 PPP2R2B MAP2K1 L2HGDH FASTKD2 PRNP ZBTB20 PAFAH1B1 B3GLCT ERCC2 AP4B1 AIFM1 ESPN DNM1L GTF2H5 SETX NUS1 NDUFA11 RAB3GAP1 TPP1 PGAP2 EXOSC8 KCNT1 SIX3 KIRREL3 HACE1 OCA2 ST3GAL3 ATXN3 PLA2G6 NDUFB8 NSD1 RNASEH2A GABRA5 SERPINI1 EEF1A2 KMT2D PSMD12 SET COG5 WDR81 RSRC1 BMP4 SHH RNF113A ELN CIC TRNT1 STAG1 MT-TW AIMP1 COG4 ACTL6B SC5D HNRNPA1 PCNA COQ9 TBCK ERCC4 DCTN1 COG8 SYNJ1 KIDINS220 ROGDI SQSTM1 WDFY3 NKX6-2 TPI1 TSEN2 TRAPPC9 TRAPPC6B MORC2 RERE PLPBP SCN9A KCNMA1 NUTM2B-AS1 CLN8 SURF1 NTRK2 ERCC6 PODXL COX4I1 ACO2 FTL SLC25A15 MBOAT7 DNAJC3 PIGV GCDH USP9X VPS35 MYT1L PIGN CLIP1 VPS53 POLR3A NANS TRMT1 MBD5 GABRB2 GLUD2 NDST1 SRCAP CACNA1B FUS JPH3 MED23 DLAT TBC1D24 ADK SLC33A1 ALG13 MED13 FOXP2 GTF2IRD1 EPHA4 SZT2 CRBN TMEM106B CSNK2B AP4E1 ATAD1 IKBKG TRRAP RFC2 PNPLA6 DARS2 MTHFR GLYCTK RBM28 ATP6AP2 MT-TS2 DNM1 DYRK1A PPP3CA C19orf12 ADAR KIF1A PGAP1 ALG14 DDX6 LIPT2 STX1B PRPH PRKDC ZMIZ1 NEK1 BCAP31 HCN1 CDK19 SON VAPB ABCD4 PON3 SLC39A4 SMN1 RFT1 SETD2 METTL23 POLR3B ADAT3 EIF4G1 DHX30 NEFH EPB41L1 NEUROD2 TRAPPC4 GDAP2 SCN2A DAO SUCLG1 SYNGAP1 ADSL COASY USH1G EIF2AK2 NAGA ERCC3 ZNF592 DOCK7 SLC35A2 CC2D1A HSD17B10 NDP KRAS QARS1 TBCD CASK TRIM8 STUB1 PLAA SVBP ATRX ACTG1 NHLRC1 MOGS ATP8A2 SLC13A5 MT-TQ ZC4H2 NIPBL HERC1 CACNA1G PRDM16 SPAST GRIA4 PFN1 GLE1 MATR3 SLC39A8 MVK ZNF335 TARS1 PEX19 AARS2 RLIM ARX TRAPPC2L TBP RNF216 TSEN15 WDR73 CIZ1 RNU4ATAC FLI1 IBA57 COX8A LMNB1 GUSB CFAP410 NALCN TOE1 FARS2 APP BAZ1B DNAJC19 TBK1 MAGEL2 SLC12A5 PDE8B WARS2 PON1 WFS1 PUS3 TRIT1 TIMM8A TCTN3 RMND1 NPC1 PIGU KLHL7 PCLO TK2 STAMBP ANG TBL1XR1 DKC1 DHDDS IQSEC1 HTT ARV1 IFIH1 PCK1 FBLN1 ELOVL4 SCYL2 LONP1 TP53RK KCNQ2 FARSB SAMHD1 ALDH18A1 ZNHIT3 GMPPB MT-ND1 FGFR1 SLC35C1 CYB5A ZMYND11 GNAQ SUMF1 NECAP1 FBXW11 MYO7A CPA6 TAOK1 NEXMIF TRPM7 GTF2I SCN8A MPDU1 SETBP1 CCT5 TSEN54 DHFR FRRS1L MTR TDP1 UBQLN2 MT-CO1 ASH1L PLK4 SLC17A5 NACC1 PRUNE1 CRADD COQ2 AP1S2 AGA COG2 SPG11 CHMP2B DEAF1 DOCK3 PCDH19 MAG LHX1 GFM1 SLC25A22 NGLY1 TRAPPC11 SMC1A DYNC1I2 SACS RAB18 CNTNAP2 GRIK2 MPLKIP IRF2BPL NTNG1 TCF20 SLC39A14 BRAF SCN3A SIGMAR1 CCDC47 CPLANE1 PSPH CDH15 KCNA2 PURA CIB2 DNAJC5 NOTCH3 SCO1 RNASEH2C YME1L1 HIVEP2 ASPA LRRK2 DOCK8 CAMTA1 UBTF CDKL5 GBA POMT2 DPYD MED17 NBN SLC2A3 NAXD CLTC CACNA1E MTRR ALS2 SMG9 EHMT1 LARGE1 ITPA UBA5 NDUFAF3 DYNC1H1 RTN2 SLC1A4 MT-CO3 AMPD2 PEX7 VRK1 OSTM1 SLC5A6 GUF1 KCNAB2 GJC2 SNX14 PLP1 UBE3A DMXL2 CHCHD10 WASHC5 ACD REPS1 BTD LMAN2L HSD17B4 YIF1B ST3GAL5 GRIN2B IDUA KCNQ5 SPG21 CAMK2A MAN2B1 PPT1 HTRA2 PDHX CLN5 ASAH1 OSGEP CPT1C OTUD6B RALGAPA1 CNKSR2 ERBB4 ATP6V1A EXOC7 GABRA1 COG1 TECR ADARB1 MT-ND4 PARS2 SNCAIP PIGT UGP2 RAD21 PIGC EXOSC9 FKRP RPS6KA3 MFSD8 HNF1B CTSF KDM6A COG6 UNC13A SOD1 DOCK6 DNAJC13 AP3D1 NAXE GLT8D1 ASXL1 PARN VPS33A WWOX MAPK8IP3 GTF2E2 LIAS TERT ACY1 NDUFV2 SCO2 MOCS2 GM2A TANC2 CACNG2 TRMT5 CYP27A1 PRSS12 NDUFA9 ANXA11 CDH23 SEPSECS PNKP COLGALT1 MEF2C CAMK2B FMN2 PDYN SLC2A1 NRXN1 ATL1 NARS1 USH1C ATN1 SETD5 NDUFA2 TRAPPC12 SKI XPA ABHD5 ATXN1 POLA1 GAD1 TFG OPHN1 ALDH7A1 TMCO1 MT-TH KCTD7 AIMP2 SMN2 TAF15 ALG1 PCCA GRIA2 PRDX1 MAP2K2 CYB5R3 APOE DNAJC6 FGF12 PDE6D CNTNAP1 MECP2 UBA1 FGFR3 EMC1 GPHN PIGP HNMT RNF125 TAF2 FADD EXOC8 DGUOK DALRD3 B3GALNT2 TUSC3 APC2 SUCLA2 TNIK EZR AP3B2 FBXL4 TTC19 KMT2A DEGS1 SNCA LINS1 NDUFS1 RARS1 CLN3 NUP214 CLP1 NDUFV1 PNPO UCHL1 FH IARS2 HUWE1 MMADHC CDC42 BPTF TUBA4A TPRKB ATXN8OS DOLK RARS2 TUBGCP4 ADNP OPA1 BCORL1 WDR45 HNRNPA2B1 TMX2 GIGYF2 PEX16 CUX1 CAD RTTN CHAMP1 SORL1 VARS1 PCCB NIPA1 TCF4 ERCC1 MT-CO2 HIC1 HP_CORPUS_CALLOSUM_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORPUS_CALLOSUM_ATROPHY EMC1 GBA2 DNM1L FA2H L2HGDH AIMP1 CACNA1E IRF2BPL MAG ALDH18A1 PEX16 LMNB1 GFM2 ATP8A2 STUB1 OPA1 BCAP31 HSD17B4 HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS TARDBP BAZ1B CLIP2 LIMK1 SPG11 SPG7 ELN TBL2 RTN2 SQSTM1 GTF2IRD1 ATL1 GTF2I PRPH C9orf72 TBK1 CHCHD10 CPT1C RFC2 SPAST PLP1 MT-ATP6 WASHC5 FUS DCTN1 NEFH VCP NIPA1 SLC33A1 SOD1 HP_MOTOR_NEURON_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_NEURON_ATROPHY MATR3 SETX TARDBP ANG VCP ATXN3 VAPB PPARGC1A CHMP2B SIGMAR1 PRPH SMN1 ASAH1 OPTN NEK1 FIG4 UBA1 TUBA4A UNC13A SOD1 CHCHD10 UBQLN2 GLT8D1 PON3 ALS2 ATXN2 CFAP410 SPG11 C9orf72 TREM2 ERBB4 FUS HNRNPA1 KIF5A TFG HNRNPA2B1 TBK1 PON1 TRPM7 EPHA4 NEFH VRK1 CPLANE1 SMN2 MAPT TAF15 DAO CCNF IGHMBP2 DCTN1 PFN1 GLE1 RBM28 SQSTM1 PSEN1 ANXA11 CEP126 PON2 HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS HTT JPH3 OPHN1 VPS13A ADAR BSCL2 FOXP2 MT-ATP6 TYROBP TREM2 FTL TIMM8A NUP62 SLC2A3 HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM DCPS NSUN2 IQSEC1 FKTN HCCS PACS1 PROP1 STAG2 POMK PTDSS1 HESX1 FGFR1 DLL1 MBOAT7 CC2D1A KIF7 LHX4 PROKR2 PIGA FANCI C12orf4 LETM1 PTCH1 CLIP1 ARNT2 HNMT HYLS1 MAPK1 LARGE1 RNF125 DISP1 POU1F1 EHMT1 COL4A1 RXYLT1 PAFAH1B1 NODAL MED25 NDST1 CPLX1 MED23 B3GALNT2 NSD1 ROBO1 KRAS TGIF1 COX7B TUSC3 PGAP1 APC2 CRBN NSD2 L1CAM NDUFB11 MAN1B1 TNIK RSPO2 EZR FRRS1L PIEZO2 KIAA0586 EDC3 NKX2-1 SIX3 PRSS12 TDGF1 POMT1 LINS1 CRPPA GAS1 CRADD GLI2 LMAN2L EZH2 PHGDH WDR11 FGFR2 FMN2 GPR161 PPP2R5D PCGF2 AIMP1 FGF8 WNT3 SOX3 WASHC4 PIK3CA SLC45A1 CTBP1 FOXH1 ST3GAL3 DYNC1I2 FGFRL1 TAF1 MUSK POMGNT1 LHX3 TRAPPC9 SSR4 POMT2 RSRC1 CDON CSPP1 TUBB2B FBXO31 GRIK2 SARS1 FOXA2 SETD2 OTX2 METTL23 MBTPS2 DAG1 FKRP TECR SOX2 LRRC32 SPECC1L ZIC2 POMGNT2 KDM5B SHH DHCR24 PIGC PPP1R12A B4GAT1 ZC3H14 PSAT1 CSGALNACT1 RBM8A HP_ABNORMALITY_OF_THE_CHOROID_PLEXUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHOROID_PLEXUS GNAS ZSWIM6 TP53 CTSC MDM2 FH SMARCB1 SETBP1 CHEK2 CDKN2A PHGDH NPHP3 EXOC8 NRAS HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS TBC1D24 SAMD12 ATXN1 GJC2 PLP1 CYP27A1 STARD7 NHLRC1 EPM2A SEMA6B YEATS2 TIMM8A MORC2 MARCHF6 PRPS1 HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT RAD51D STAT1 CR2 SLC37A4 STK11 SMPD1 MSH6 APC MLH1 CDKN1A PALB2 BUB1B AXIN2 AXIN1 C11orf95 PRKAR1A JAK2 PMS1 RAD51 SMAD4 CPOX PMS2 TTC37 CDKN1B KRAS TSR2 ATP7B HBB FAS TP53 DIS3L2 BAP1 RAD21 SEC23B HFE CDKN2B PTPRJ PIK3CA CDH1 BUB1 STAT6 AKT1 MSH2 PIEZO2 GREM1 GNAS TRIM28 FAN1 TNFSF12 PTEN CD81 CDKN2A BMPR1A TJP2 RPS19 DLC1 DOCK8 SETBP1 USF3 ADA2 ENG PKHD1 HNF4A CASP8 SLC25A13 POLD1 MSR1 KLLN SDHC RPL35 RPL15 PRKCD RET PALLD MET RPL31 SDHD NBN MEN1 PHKA2 WT1 MUTYH WWOX RHBDF2 EPCAM IL1B GPC3 MLH3 TMEM67 NTHL1 G6PC AURKA RELA CASP10 INPP5E MITF RAD51C GATA1 POU2AF1 RPL26 ACVRL1 NRTN TGFBR2 DAXX SUFU CHEK2 BAX PHKG2 H19 REST SKIV2L KIT APPL1 MS4A1 FAH TRIP13 TNFSF15 FGFR3 DICER1 POT1 PDX1 RASGRP1 SRC PSAP POU6F2 SMAD7 ATRX NEUROD1 EDN3 MGMT CDKN1C NFKB1 MSH3 BARD1 CTNNB1 BRCA2 MDM2 RPS15A BLM PTCH2 DLK1 RAD50 FASLG WRN RPL27 UROD TREX1 RPGRIP1L MST1 IL12A POLE BCL10 TNFRSF13C CC2D2A ARSA PDGFRL PYGL BRIP1 ABCB11 SERPINA1 SPIB CDKN2C HNF1A FOXE1 INS TERT RPS17 MINPP1 KLF11 PAX4 RPL11 SDHB NF1 PTPN3 ABCC8 COL14A1 MMEL1 DZIP1L GPC4 F5 DLEC1 IL1RN JAG1 SEMA3D GCK BUB3 IGF2 FLCN ACD CEL AHCY GDNF RPL35A MEG3 SEMA3C RPS10 RPS7 BMP2 RTL1 CEP57 PTCH1 CTHRC1 GPR35 GDF2 IL12RB1 COL4A6 NRAS MCC KEAP1 DMPK HMBS CDK4 BRCA1 IGF2R CCND1 PDGFRA RNF43 RPS24 DCC RNF6 RPS26 RPS28 EDNRB SLC2A2 ASCC1 COL4A5 NFKB2 RPS29 RPL18 HABP2 MTOR ECE1 IRF5 TNPO3 TNFRSF13B LMNA SPRTN RPS20 KCNJ11 KCNQ1 KCNQ1OT1 FH MC1R RPL5 TERF2IP PLA2G2A SDHA NAB2 RAD54B SH3KBP1 AAGAB CD19 TLR2 RPS27 PTPN12 SEMA4A EP300 MRE11 TCF4 BLK PPOX ICOS HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT NOD2 RAD51D RAD51C STK11 H19 HNF1B WT1 MSH6 MLH1 PALB2 BUB1B AXIN2 PIK3CA CXCR4 C11orf95 NR5A1 PRKAR1A RAD51 KRAS CDH1 PMS2 SLC6A17 CDKN1B TSR2 TP53 DIS3L2 AKT1 FIBP SEC23B KANSL1 PTPRJ FGFR3 BUB1 B3GALT6 STAT6 ALX4 GREM1 HNF1A TRIM28 NSD1 FAN1 DHH PRCC PTEN CDKN2A SDHAF2 FH DLC1 VHL DOCK8 TSC1 TSC2 SETBP1 USF3 RNASEL ADA2 BRCA1 POLD1 KLLN RPL35 RPL15 BRCA2 APC PALLD RPL31 POU6F2 NBN AR CDC73 OGG1 DMRT3 EPCAM GPC3 MLH3 IGF2 KLF6 BMPER NTHL1 TRIM37 AURKA STAG3 GPC4 RELA FLI1 GATA1 GATA4 RPL26 SDHD SUFU MNX1 FGFR2 FN1 BAX REST IDH2 HRAS MAP3K1 SDHA TRIP13 TFE3 DICER1 BAP1 SETD2 SLC25A11 SRC NF1 MSH2 NNT CDKN1C BARD1 EWSR1 MDM2 RPS15A RB1 BLM PTCH2 EPHB2 MC2R RAD50 WRN RPL27 BMPR1A POLE PDGFRL CHEK2 FLCN BRIP1 MVK TGFBR2 STAR RET CTNNB1 FOXE1 LMNA RPS17 MINPP1 RPL11 COL14A1 RPS19 TMEM127 IFNG BUB3 MET APC2 ZFPM2 SRY RPL35A DHX37 RPS10 RPS7 PAX6 SDHB CEP57 PTCH1 SDHC EXT2 NR0B1 VAMP7 FERMT1 COL4A6 NRAS MCC KEAP1 CCND1 DMPK MAX SOX9 STS MSH3 RNF43 MDH2 KCNQ1OT1 EP300 RPS24 PMS1 DCC RNF139 RPS26 TXNRD2 RPS28 CREBBP MXI1 WNT10A HDAC4 COL4A5 RPS29 RPL18 DLST IDH1 HABP2 MRAP ZFHX3 RPS20 PRKN KCNQ1 RPL5 TBX18 PLA2G2A PHF21A NAB2 RAD54B AAGAB TLR2 RPS27 PTPN12 SEMA4A SMAD4 OPCML MRE11 MAD1L1 HNF4A ATP7A WWOX KIF1B HP_FACIAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_TELANGIECTASIA SLC29A3 SDHD SOX18 POLE DAXX SLC2A10 VPS53 WNT10A ARX ATRX BLM GNPTAB HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN ITGB4 DLL4 LAMA3 COL7A1 LAMC2 LAMB3 PLEC BMS1 HP_APLASIA_CUTIS_CONGENITA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP LETM1 CPLX1 ITGB4 FGFRL1 UBR1 DLL4 ALX4 ARHGAP31 NSD2 CTBP1 MCTP2 BMS1 MSX2 NELFA PLEC HP_EXCESSIVE_WRINKLED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLED_SKIN FGFR2 ATP6V1A TGM5 TERT PTEN SMARCA2 FGFR3 ENPP1 ZNF469 TINF2 ATP6V0A2 TWIST2 CSTA RTEL1 RIT1 KRAS C1R ABCC6 RAF1 ATP6V1E1 MAP2K1 COL3A1 PARN ACD BRAF PIK3R1 PTPN11 PLOD1 MAP2K2 TBL1XR1 DKC1 PYCR1 ADAMTS2 HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS PTDSS1 MST1 FOS ATP6V1A PPARG SLC39A13 CAV1 ZMPSTE24 LMNA AEBP1 CAVIN1 PPP1R15B RASA1 SLC25A24 ATP6V0A2 ATP6V1E1 POLR3A BSCL2 COG4 ANTXR1 PYCR1 FLT4 AGPAT2 TCF4 GPR35 ALDH18A1 HP_IRREGULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_HYPERPIGMENTATION CD28 STK11 LBR CDKN1A ERCC3 ERCC4 NDUFB11 PRKAR1A TERC BRAF BRCA1 FGFR1 SLC6A19 KRAS SPINK5 KIT GNAQ CDKN2C FANCD2 CASR FGFR3 XPC DDB2 COL3A1 RTEL1 ACP5 MAPK1 SLX4 ERCC6 SDHB NF1 RAF1 BRIP1 PORCN TERT GNA11 ACTB FANCB USB1 C1S ERCC5 ABCB6 C1R GNAS CDKN2B SRD5A3 NCF2 PTEN FANCM MAP2K2 SVBP IKBKG SEC23A MEN1 TNFRSF1B PIK3CA PALB2 MAP2K1 PARN NRAS ATP2A2 ZMPSTE24 NOTCH3 SALL4 KRT14 TUBB PTPN11 AKT1 BANF1 GJB3 BLM FANCF ST3GAL5 CYBC1 TINF2 GPNMB LYST CDKN1B NPM1 GJA1 FANCI MAFB FERMT1 ERCC2 MLH1 XRCC2 BRCA2 DSTYK CYBB KDM6B CTLA4 CYBA FANCC CHN1 RAD51C TNFRSF1A CARD14 MMP2 HRAS POFUT1 NCF1 XPA GJB4 ERCC1 INSR KITLG KRT5 DNASE1L3 HGD FANCL SDHC NOP10 FANCE PDGFRB UBE2T GJB6 RFWD3 ERCC8 FANCG KDSR SDHA IL6 SMARCAL1 FANCA CTC1 MAD2L2 WRAP53 NHP2 MAPRE2 RAD51 CRIPT NCF4 PDGFRA DKC1 COL7A1 POLA1 LMNA HP_MACULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_ATROPHY PRPH2 AIPL1 GUCA1A RHO SIX6 GUCY2D DRAM2 HK1 RP9 ELOVL4 RAX2 MAPKAPK3 TNFRSF11B RDH5 RLBP1 SH3BP2 GBA IFT140 PRPF31 KCNV2 MERTK RS1 CFI HLA-A PLK4 ATF6 NRL WDR19 C8orf37 ARL2BP DHX38 HP_PALMOPLANTAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_HYPERHIDROSIS RSPO1 PLAA MBTPS2 KRT17 KRT6B PERP SERPINB7 WNT10A KRT6A CTSB KRT16 TRPV3 HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD ASXL1 CDK10 MED25 RBM8A PLP1 KLHL7 HP_DISCOID_LUPUS_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISCOID_LUPUS_RASH STAT4 SPP1 CYBB IRAK1 NCF2 NCF1 CYBA HP_ALOPECIA_TOTALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_TOTALIS UQCRFS1 NFKB2 RIPK4 GJA1 RECQL4 ANAPC1 MBTPS2 GJB6 ZMPSTE24 FOXN1 LMNA HP_SPONTANEOUS_HEMATOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMATOMAS PRKACG ITGB3 CD109 GP1BA GP9 GP1BB SMAD4 ENG WIPF1 ATP7A ACVRL1 F10 WAS F8 COG8 ITGA2 ITGA2B F5 F13A1 GDF2 F13B HP_RETICULATED_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULATED_SKIN_PIGMENTATION KRT14 KRT5 DKC1 TERT TINF2 NHP2 HP_GENERALIZED_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_EDEMA CFH PRF1 PDSS2 UBR1 PLVAP TMEM260 CFI CD46 CD55 HELLPAR FSHR CALCRL PIEZO1 COQ2 PHGDH PMM2 DOK7 HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA KRT10 LIPN ALOX12B ASPRV1 ABHD5 CERS3 TGM1 ABCA12 EBP LORICRIN ST14 CYP4F22 SPINK5 PNPLA1 NSDHL KRT1 GBA NIPAL4 TARS1 ALOXE3 GTF2H5 KRT2 POMP STS ERCC3 ERCC2 HP_DIFFUSE_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_PALMOPLANTAR_KERATODERMA KLHL24 AQP5 KRT14 SNAP29 KRT1 SLURP1 HP_GENERALIZED_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERPIGMENTATION MRAP AAAS USP8 CYP11A1 HSD3B2 GMPPA KRAS SLC40A1 HAMP AIP TERT GPR101 HFE GJB6 TINF2 TRAPPC11 ALDH3A2 KCNN3 STAR PTEN POR NNT RTEL1 KCNH1 INSR CDH23 CYP17A1 MAP2K1 TXNRD2 HRAS HJV ATP6V1B2 MYO5A PARN ACD MC2R CYP11B1 BRAF MAP2K2 AKT1 PAX6 TP63 DKC1 POLA1 HP_PARTIAL_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ALBINISM TYRP1 PAX3 LAMTOR2 MYO5A RAB27A KIT MITF SNAI2 MLPH HP_PALMOPLANTAR_BLISTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_BLISTERING KRT14 COL7A1 KRT6A KRT5 ITGB4 KRT16 KRT17 KRT6B HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES CDKN1B MEN1 CDKN2C CDKN1A TSC1 CDKN2B TSC2 NONO HP_PROMINENT_VEINS_ON_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_VEINS_ON_TRUNK ATP6V0A2 ATP6V1E1 AEBP1 ATP6V1A PPARG HP_AUTOAMPUTATION_OF_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION_OF_DIGITS RETREG1 CCT5 KIF1A KRT1 TGM1 NGF GJB2 WNK1 SCN9A MPV17 NTRK1 HP_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOMATOSIS SLC26A2 ACVRL1 IDH1 CCND1 PIK3CA TEK VHL GNAQ FGFR1 PTEN EIF2AK4 KRAS SMAD4 IDH2 RASA1 GDF2 ENG AKT1 FGFR2 PTH1R HP_ABNORMAL_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DERMATOGLYPHICS CLIP2 SALL4 UBR1 COL17A1 PUF60 APC SOX4 TCF4 NALCN DOK7 SMPD4 XYLT1 PEX5 HOXA13 IFT122 COX14 LONP1 FGFR3 ARID2 RB1 RRAS2 ATP6V0A2 KDM6A NRAS RASA2 FGD1 DOCK6 TPM2 GDF5 MTOR PIGL ARID1B PIEZO2 THOC2 TSEN15 VPS33A CKAP2L DIS3L2 CPLX1 RAB3GAP2 NOG HDAC8 FLNA RPL10 KCNK9 NUP188 B4GALT7 ZNF462 SEPSECS MEG3 GTF2IRD1 DLK1 GTF2I NSD2 ASXL1 TNNI2 RNU4ATAC RFC2 WDR37 HNRNPK PEX13 VPS51 SEMA3E RPS6KA3 ADAMTSL1 RAB3GAP1 KRT14 PEX1 RPS23 SOS2 B3GLCT TELO2 ATR BRF1 TBL2 AUTS2 IGF1 LIFR A2ML1 DSE CEP55 GPR101 SOS1 RAF1 SMARCE1 MED12 SMC1A LMX1B TSEN2 PEX10 SETD5 CHD7 LRP4 FOXP1 PEX6 EYA1 SMARCA4 BMPR1B ATP6V1B2 CTCF MCTP2 TSEN54 GLE1 PLAA PEX19 HRAS SETBP1 VAC14 SMOC1 LIMK1 EHMT1 ANKRD11 SHOC2 NUP88 SMARCAD1 MYOD1 MSL3 BRAF GATA1 CDK19 NAA10 TRPS1 OFD1 PLOD3 MYH3 MRAS DHCR7 CHST14 CBL YY1 MAP1B SMC3 MAP2K2 RAB11B PEX2 DPH1 VPS13B ITCH PPP2CA PEX14 NIPBL AIP DPF2 FGFR2 TWIST1 NBAS UBA1 SIN3A CHST3 KRAS TGDS NXN LETM1 EXTL3 GPKOW BCOR DLX4 SPECC1L PEX11B CD96 MED25 SOX11 PEX26 RTL1 PTPN11 RBM10 PKDCC FIG4 PIGS PEPD PDHA1 CDK10 SMARCD1 DDX11 WAC KCNN3 DHODH CCBE1 KCNH1 PEX3 ESCO2 KMT2A MAP2K1 SLC25A24 TFAP2A PNPLA6 IFT57 STXBP1 MTX2 EXT1 RAPSN PEX12 PEX16 EP300 CTBP1 PAX1 ATRX TCF12 ROR2 FGFRL1 G6PC3 CREBBP HDAC4 MAP3K7 KMT2D ADNP TSEN34 SLC16A2 ARID1A MUSK RRAS BMP4 TBX4 BAZ1B NECTIN1 KAT6B ELN STAG1 SLC18A3 TASP1 RIT1 AMACR BHLHA9 NGLY1 SLC39A13 LZTR1 SMARCC2 FGF9 DPAGT1 PORCN TP63 TBL1XR1 TNNT3 RIN2 RAD21 ASXL2 SMARCB1 CSGALNACT1 PACS1 UBE3B HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA NIPAL4 ALOX12B TARS1 ALOXE3 ASPRV1 SPINK5 ABHD5 GTF2H5 LORICRIN POMP TGM1 ERCC3 GBA CYP4F22 ERCC2 HP_ABSENCE_OF_SUBCUTANEOUS_FAT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SUBCUTANEOUS_FAT KCNJ6 GTF2H5 LMNA MPLKIP GTF2E2 ZMPSTE24 POLR3A ERCC3 RNF113A ERCC2 CAV1 TARS1 ERCC4 HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS KRT6A KRT16 KRT17 POMP KRT6B HP_PREMATURELY_AGED_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURELY_AGED_APPEARANCE CLIP2 CDH11 ERCC4 ERCC3 GORAB RNF113A ERCC6 PTDSS1 PAX3 PTEN PTPN22 TERC ZNF469 TALDO1 TWIST2 TINF2 ATP6V0A2 KCNJ6 KRAS EDNRB NAA10 COL5A2 ATRIP ALDH18A1 COG5 CEP152 COL3A1 RTEL1 PYCR1 LMNA POLR3A DSTYK ELN PARN MLXIPL ATR TERT EDN3 PIK3R1 BRAF STUB1 RAB27A ERCC2 USB1 RAB3GAP2 PCNT RBBP8 EDA B4GALT7 GTF2E2 PSMB8 FBLN5 GTF2IRD1 KRT14 CENPJ GTF2I COL1A1 RIT1 SOX10 ABCC6 RFC2 MITF MAP2K1 WRN ZMPSTE24 SLC25A24 TFAP2A SNAI2 KRT5 ACD MTX2 RAB3GAP1 TARS1 PTPN11 RECQL4 GTF2H5 TBL2 ATP6V1A BRCC3 EDAR NPM1 TGM5 MDM2 KITLG ERCC8 MED12 CSTA FAS LMNB2 ERCC5 ATM GHR INSR MYO5A TOR1A SLC2A10 PLOD1 ERCC1 BAZ1B LIMK1 FGFR2 MPLKIP EDARADD NOP10 MTAP SMARCA2 ANTXR1 FGFR3 ENPP1 PLK4 C1R CTC1 RAF1 ATP6V1E1 WRAP53 COL5A1 CENPE NHP2 TRAIP DKC1 STN1 MAP2K2 TBL1XR1 ADAMTS2 HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS PGM3 LYST STAT3 IL17RA RFXAP IRAK4 NCF2 ITGB2 NCF1 NTRK1 CYBA FCN3 RFXANK CYBB RFX5 CIITA HP_FOLLICULAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERKERATOSIS PSENEN KRT81 KRT86 DSG4 NLRP1 FKBP14 KRT17 COL6A3 TRIP4 MBTPS2 DDR2 COL6A1 COL6A2 KRT16 KRT83 TARS1 KRT6B KRT6A POFUT1 COL12A1 HP_GENERALIZED_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION SLC24A5 OCRL TYR TP63 LEMD3 AP3B1 EPG5 CACNA1F PWRN1 TTC37 DTNBP1 LYST PAH BLOC1S3 MAGEL2 OCA2 HERC2 LRMDA MITF NPAP1 MKRN3 AP3D1 HPS4 SNORD115-1 TYRP1 SLC45A2 HPS5 HPS6 NDN SKIV2L CTNNB1 SNORD116-1 PWAR1 MC1R SNRPN HPS1 EDNRB HP_EDEMA_OF_THE_DORSUM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EDEMA_OF_THE_DORSUM_OF_HANDS TGM1 KLHL40 KLHL41 LMOD3 ZNHIT3 PLAA SERPING1 ACTA1 NEB RBM8A RNF13 HP_PALMOPLANTAR_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_CUTIS_LAXA RIT1 C1R FGFR2 ZNF469 PLOD1 ATP6V0A2 HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH CHD7 LIG4 TGM1 IL2RG SLC27A4 RAG1 IL7R RMRP RAG2 GBA ADA HLCS DCLRE1C HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION PMM2 ATP6V1E1 ATP6V0A2 ATP6V1A AKT1 TGFB1 TBL1XR1 PTEN HP_PLANTAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLANTAR_HYPERKERATOSIS KRT83 LAMA3 AAAS GJA1 RECQL4 KRT6A TGM1 GMPPA MBTPS2 KRT5 FERMT1 DSP PTEN TRAPPC11 SDR9C7 KRT9 WNT10A ITGB4 KRT10 USB1 GJB2 KRT16 PIK3CA AAGAB COL7A1 AKT1 NECTIN1 CTSC NLRP1 ANAPC1 LAMC2 PLEC PIGL COL17A1 SLURP1 HPGD KRT14 PKP1 GJB6 KDSR KRT1 KRT17 TERT MTX2 COG6 LAMB3 RHBDF2 HP_MULTIPLE_CAFE_AU_LAIT_SPOTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS TP63 BUB1B PLXND1 FANCI TMC6 MAN1B1 TMC8 XRCC2 REV3L MSH6 BRCA1 BRCA2 KRAS SDHD ATM FANCD2 FANCC RAD51C SLX4 AKT1 NF1 PCNT SEC23B BRIP1 BRAF PIK3CA BUB1 FANCB SDHB ABCB6 BUB3 FANCL TRIP13 FANCE MSH2 PTEN USF3 FANCM UBE2T RFWD3 CIB1 PMS2 FANCG TWIST2 ARL6IP6 FANCA KDM5C KLLN PALB2 MAP2K1 MAD2L2 SMARCAL1 IL7 CEP57 ERCC4 RERE RAD51 SDHC MAP2K2 FANCF HP_NUMEROUS_PIGMENTED_FRECKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_PIGMENTED_FRECKLES ERCC2 GTF2H5 ERCC5 MPLKIP TARS1 GTF2E2 ERCC3 ERCC4 RNF113A HP_RETICULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULAR_HYPERPIGMENTATION KRT14 TERC TINF2 PORCN POFUT1 TERT POLA1 HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES EXT1 TELO2 PEX14 PEX12 SOX4 PEX16 DPF2 FGFR3 FGFR2 TWIST1 ARID2 UBA1 SMARCE1 SMC1A TSEN2 PEX10 CHST3 ROR2 SETD5 NALCN RNU4ATAC NXN ARID1B GDF5 SMARCA4 BMPR1B NOG HDAC4 PEX11B TSEN15 TSEN34 SLC16A2 ARID1A TSEN54 CD96 PEX6 PEX19 DIS3L2 TBX4 PEX5 NECTIN1 KAT6B SOX11 HDAC8 PEX26 NUP188 SEPSECS PEX1 AMACR PEPD TPM2 SMARCD1 NIPBL TRPS1 CKAP2L SMARCC2 FGF9 TNNI2 CCBE1 MYH3 PEX3 ESCO2 KMT2A SMOC1 PNPLA6 TNNT3 PEX13 RAD21 SMARCB1 SMC3 PEX2 DPH1 HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN RIT1 C1R FGFR2 ZNF469 PLOD1 TGM5 ATP6V0A2 CSTA TBL1XR1 HP_BILATERAL_MICROPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_MICROPHTHALMOS RTTN ERCC1 GTF2H5 TCOF1 PUF60 MPLKIP GTF2E2 FAM111A MED13L FIG4 ERCC3 RNF113A PTCH1 SHH ERCC2 STRA6 TARS1 GDF6 GDF3 FRAS1 VAC14 HP_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCHROMATOPSIA CNGB3 TK2 GUCA1A PDE6H BEST1 GUCY2D POLG ACO2 PRPH2 C12orf65 TMEM126A FGF14 OPN1MW PROM1 CEP78 PDE6C OPA1 OPN1SW NR2E3 AFG3L2 OPN1LW MORC2 OPA3 DNM1L HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS SAG GNAT1 PDE6B GRK1 CABP4 GRM6 NYX RDH5 CACNA2D4 CACNA1F TRPM1 RLBP1 RHO SLC24A1 GNB3 GPR179 FGFR2 PRPH2 TRAPPC9 MYO6 LRIT3 HP_PUNCTATE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUNCTATE_CATARACT SEC23A GJA8 VIM BEST1 OPA3 MAF LIM2 HSF4 CRYBB2 FTL CRYBB1 HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS KMT2D KDM6A CDC42 HNRNPK GRIA3 HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION MAGEL2 SLC25A15 SIM1 BEST1 TSC1 TSC2 OAT HP_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VISUAL_ACUITY LYST SAG RHO LRP5 NDUFS4 NFIX PUF60 FKRP CACNA2D4 NDP PDE6H GUCY2D AP4M1 MMP19 FDXR MAPKAPK3 CRYAA SMARCE1 CEP290 LONP1 SMAD4 FGFR3 EYS TMEM231 ATXN7 RD3 NDUFV1 BTNL2 LOXL3 ARHGEF18 RP2 RPGR PRPF4 PDE6B USP45 LCA5 TSEN15 MLXIPL ABCC6 PHOX2A CTNS CREBBP SELENOI PRPS1 STAT4 FGFR2 SLC45A2 PAX6 OCRL IFT140 CTNNB1 NRL CDH23 IL23R SEPSECS PITPNM3 RIC1 CACNA1F CNGA1 CEP164 PRPF31 CBS NDE1 ENG NDUFB10 SLC4A11 WARS2 C8orf37 MTR ABCA4 ERF MT-ND2 BLOC1S3 TUBGCP4 AFG3L2 GNAQ BEST1 ALG3 CHN1 GNAT1 COL11A1 CNGA3 SMARCB1 OVOL2 ARL2BP FRAS1 RP1 AIPL1 PROM1 PCYT2 FBN1 TIMP3 AHI1 FXN CC2D2A MAG ACTB POMGNT1 ARSA CLRN1 ARHGEF2 GALC RPGRIP1 NDUFAF2 EIF2B2 MEN1 MFSD8 TBX1 TMEM237 OCA2 SDHAF1 UBAC2 OPN1SW SLC1A3 SDHA LAMA1 GUCA1A GDF6 WDR26 XYLT2 NDUFA1 SCAPER TMEM67 OAT TRIO EIF2B3 MT-ND3 ZNF513 AKT1 FRMD7 NDUFAF3 AIRE HLA-DRB1 CLCN7 RPE65 IL12A PCARE POMT1 MIR184 TSPAN12 RP9 DHX37 ATIC C12orf65 IMPDH1 PANK2 YME1L1 MT-ATP6 ASPA ALMS1 NDUFA6 ITGA2 FSCN2 C4A NF2 TNFSF11 IFT172 PRPF6 MTFMT ARL6 KIF1C TRAF7 SPATA7 NDUFAF1 EPRS1 CHST6 RFT1 MARK3 PGK1 KIAA1549 NEK2 TUBB4B BBS5 CERKL FOXRED1 ITGB3 DTNBP1 PDE6C OPA1 COL4A1 ATP1A3 UFM1 KCNJ13 RBP4 TUBB3 IFT88 ARL2 PSAP CCR1 PCYT1A C1QBP TMEM126B MED25 GMPPB SMCHD1 CNGB3 RGR CDH3 NYX TMEM216 B3GAT3 FZD4 PDHA1 ABCD1 PQBP1 AP4S1 PIK3R2 TTC8 B4GAT1 GPR179 SUFU ATF6 FLVCR1 WDR19 CAPN5 OPA3 AP4B1 NUBPL CHRDL1 SLC38A8 ARL3 APC CABP4 ERAP1 CD109 IDH3A PPT1 XYLT1 FBN2 CDC42 GP1BB TCIRG1 USH2A SEMA4A RTN4IP1 NDUFB11 RCBTB1 AGBL5 MMACHC CDHR1 PITX2 ZEB1 BMP4 TENM3 SLC24A5 MEFV HLA-B B3GALNT2 FREM2 ZNF408 HGSNAT SLC24A1 BRAF H1-4 GRHL2 MC1R WAC RBP3 CA4 HCCS SDHB POMT2 KIDINS220 CRB1 REEP6 KIF11 NDUFS2 NDUFA11 RDH12 DNM1L SLC7A14 EIF2B1 TYR SNRNP200 TOPORS WHRN GNB3 C1QTNF5 TIMMDC1 OPN1MW NDUFS6 CTC1 CNGB1 HPS4 POMK TGFBI HEXB SOBP TBC1D24 FLNA BBS2 GRK1 VSX1 IL10 FAS ACO2 SALL2 POGZ ARMC9 AP4E1 GM2A PDE6A ELOVL4 KIZ RP1L1 RRAS2 BAP1 GJB2 HPS6 ITGA2B MT-ND1 INPP5E HPS1 DYRK1A LAMB2 KLHL7 PIGN LRAT NHS KRT12 COL9A1 MAFB TMEM138 GP1BA CRX ZMIZ1 MIR204 PDGFB NLRP3 TSEN2 ACVRL1 MFRP RIMS2 SCN8A TULP1 IMPG1 ADAMTSL4 POC1B IMPG2 NR2F1 TRPM1 POU3F4 TSEN54 SCN1A NDUFAF5 GRM6 COL8A2 DRAM2 CHST3 NDUFS3 NSMCE2 NAA10 GNAT2 NDUFB3 IL12A-AS1 GRIP1 CRYBB1 AHR NDUFV2 MAK PRDX1 SMO VPS13B PDE6G FKTN IQCB1 TERT RAC1 HK1 CLCC1 PROS1 SDHD TWIST1 NBAS HSD17B10 TMEM98 PRPF3 PRCD EIF2B4 BCOR TUB PRPH2 NF1 OGT SARDH PORCN COL2A1 ZFYVE26 P4HTM DHX38 NDUFS1 ATRX LRPAP1 NDUFS8 OPN1LW AP3B1 EIF2B5 VPS11 RLBP1 NR2E3 ELOVL1 SALL4 COL9A3 GDF2 CLN3 POLG LARGE1 WASF1 XRCC4 NDUFB9 DMPK TLR4 COX7B ZNF423 MTRR NDUFAF4 GUCA1B SH3BP2 NMNAT1 IDH3B NDUFS7 PLA2G6 GPR143 CRYGC PRIMPOL KAT6A AIP RHOA SLC39A14 SREBF1 PLG FAM161A SLC52A2 ELN MAP3K7 ADNP NPHP4 TSEN34 HPS5 AFF4 PITX3 MERTK CHP1 PLOD1 HEXA KLRC4 TASP1 ROM1 TACSTD2 ADAMTS10 DPP6 PRPF8 TMEM126A NDUFAF8 KIF14 LIM2 TANGO2 GNAS DLD MTTP PIK3CA OFD1 COL9A2 TIMM8A RORA DHDDS ARNT2 TUBA3D PEX6 LRIT3 HP_CURLY_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_EYELASHES KCNJ8 SETD5 HDAC8 KMT2A FZD2 NIPBL STAG2 RAD21 SMARCA2 DVL3 ABCC9 DVL1 SMC3 WNT5A SMC1A HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX RFC1 FXN ESPN CACNA1A CLIC5 HP_PROGRESSIVE_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NIGHT_BLINDNESS KLHL7 PRPH2 RHO CRB1 ARL6 REEP6 SLC7A14 AHI1 LRAT GUCY2D ARL3 OAT CYP4V2 SNRNP200 RDH5 POMGNT1 KIAA1549 CLRN1 TOPORS GUCA1B IDH3B CRX USH2A EYS NEK2 SPATA7 RPE65 AGBL5 TUB RDH11 PRPF3 CERKL PRCD BEST1 ARHGEF18 SEMA4A RP2 IFT88 RPGR PRPF31 PRPF4 IDH3A CNGB1 FAM161A PDE6B RDH12 CDHR1 PRPF6 POU3F4 MERTK PROM1 AHR SAG RGR TULP1 IMPDH1 IFT140 DHX38 BBS2 NRL ZNF513 IFT172 ROM1 ZNF408 HGSNAT RLBP1 PCARE SCAPER PRPF8 IMPG2 RP9 TTC8 RBP3 C8orf37 CA4 CNGA1 PDE6A NR2E3 KIZ RP1L1 FSCN2 OFD1 ABCA4 MAK DHDDS ARL2BP RP1 PDE6G HP_HYPOPLASIA_OF_THE_IRIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_IRIS FOXC1 CPLX1 HHAT STIM1 ERCC6 PAX6 IGF1R MAFB PITX2 LRP2 CPAMD8 NSD2 MIR184 PIK3R1 CTBP1 FGFR1 NDP FGFRL1 SOX10 COL4A1 ITPR1 PORCN LETM1 CHN1 PAX3 FBN1 WDR73 ADAMTSL1 SALL4 MITF LAMB2 HP_LACRIMAL_DUCT_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_STENOSIS PTDSS1 TET3 SIX1 TCOF1 PIK3CD KNSTRN KAT6A EYA1 PAX1 YY1 CD151 HP_PERIPHERAL_RETINAL_AVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_RETINAL_AVASCULARIZATION FZD4 DLK1 LRP5 RTL1 MEG3 HP_ABNORMAL_PUPILLARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_FUNCTION MPZ PDE6C HHAT TULP1 SF3B1 SIX6 AP3D1 PDE6H KIF1B PEX10 ATF6 GNAQ RPGR NOTCH2NLC GNAT2 PRPS1 GNA11 STIM1 PEX7 PRNP BAP1 PHYH CHRNA3 LOXL1 LAMB2 ORAI1 ACTA2 DDC PSAP COLQ SH3TC2 GALC CNGA3 CYSLTR2 CHRDL1 DNMBP CNGB3 HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM AIPL1 MT-ATP6 RP1 IMPDH1 ADAR NR2E3 RPGRIP1 NUP62 CLRN1 RP9 CERKL HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX MPZ CHRNA3 PDE6C TULP1 LAMB2 PDE6H ATF6 RPGR PSAP COLQ SH3TC2 GALC CNGA3 GNAT2 PRPS1 CNGB3 HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS RNASEH2B CLIP2 WT1 HHAT PAX6 PEX5 COL2A1 TMEM127 MT-TS2 RNF113A CRYAA PITX2 NDP LTBP2 ZNF469 MT-CO3 NHS BTRC BRCA1 FGFR1 FOXE3 BCOR TSR2 DAG1 SAMHD1 DIS3L2 DOCK6 CYP1B1 VHL RPGRIP1 ALDH18A1 SLX4 HMX1 WFS1 KANSL1 CEP55 GNAQ FANCB ITPR1 CPLX1 TBC1D20 PIEZO2 MT-TF OCRL COL11A1 FOXC1 FAM126A TRIM28 SLC33A1 NUP188 GTF2E2 DLX6 RIC1 SDHAF2 GTF2IRD1 ETFB FH RPS19 KCTD1 NEU1 GTF2I NSD2 PIK3R1 FANCM ADA2 POMT2 PTEN RPL35 RPL15 RFC2 WDR37 PALB2 ATOH7 PRDM5 RPL31 AGK GJA8 MAFA ADAMTSL1 TEK B9D1 CRYBB2 LAMB2 ERCC2 TMEM107 B3GLCT ADAR TELO2 TBL2 FBN1 VSX1 ERCC6 SEM1 FAM111A FANCI MT-TC MAFB MT-TL1 LRP2 XRCC2 MIR204 GATA1 RPL26 KCNA4 EPS15L1 COL18A1 LSS ENTPD1 BDNF RAD51C MKS1 SIPA1L3 CDH2 ABCA2 H19 REST SLC2A10 MT-TV KIF1B ERCC1 CRYBA2 CRYGB LIMK1 SDHA TRIP13 MPLKIP ANAPC1 EPHA2 LDHD SLC25A11 MSMO1 BFSP2 FANCE DLX5 CHST3 TRIM44 POU6F2 POMT1 NF1 MIR184 MT-CO2 UBE2A FGFR2 MAF GPC3 RNASEH2C RBP4 CEP290 MAX MT-CO1 RERE CRYBB1 SIL1 RPS15A MT-CYB RAD51 LEMD2 MAB21L1 IFIH1 GFER SDHD PYCR1 RPL27 ETFA CTDP1 FKTN RECQL4 SDHB IGF1R ERCC3 TMEM216 PXDN XYLT2 NCAPG2 RET TMEM231 IARS2 COL4A1 FANCD2 LETM1 CRPPA FUT8 RPS17 FLNA RPL11 WDR73 BRIP1 PORCN MED25 JAG1 MT-TQ MIP PNPT1 CC2D2A ETFDH PEX11B GLIS3 STIM1 TCTN2 B3GAT3 PEX7 TREX1 ZEB2 PHGDH MAP2K2 MT-TW MT-ND1 RPL35A RPS10 B9D2 SOX10 RPS7 PITX3 GDNF CRYAB BRCA2 LONP1 CRYGD ERCC4 ELP4 MT-ND6 EHMT1 MT-TK SALL4 TARS1 SRY CENPF AKT1 LARGE1 FANCF SLC38A8 GTF2H5 CANT1 ATAD3A RAB3GAP1 PIGY MED13L MDH2 RNASEH2A CTBP1 RPS24 CRYGC WDPCP FGFRL1 COL4A5 RPS26 TMEM67 RPS28 CRYBA1 FANCC CHN1 TWIST1 KMT2C CAV1 RAB3GAP2 GCNT2 RPGRIP1L CSPP1 SDHC RPS29 RPL18 FGF3 MITF DLST TENM3 BAZ1B ELN LMX1B PIK3C2A LMNA CRYBB3 FANCL TP63 ADAMTS10 CPAMD8 WNT10B SH3PXD2B UBE2T EPG5 RFWD3 RPL5 FANCG FANCA MT-ND5 MAD2L2 RPS27 PAX3 FKRP FBXW11 ERCC8 RAB18 POMGNT1 SEC31A HP_ABNORMALITY_OF_RETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION SAG CLDN19 RHO KIAA1549 NDUFA4 NDUFA13 CACNA2D4 PDE6H GUCY2D NPHP1 ARL13B CTNS ERCC3 PEX5 CEP290 RMRP EYS PROM1 TRAF3IP1 TTPA ACOX1 IFT140 RP2 RPGR MMACHC PRPF4 PDE6B IFT27 USP45 LCA5 GMPPB MT-ND1 IDS SELENOI SLC45A2 PRPH2 NRL CNNM4 COX7B CACNA1F PET100 CNGA1 RPGRIP1 IFT172 PRPF31 CBS NDUFB11 OPN1LW C8orf37 MSTO1 ABCA4 MT-CO1 DYNC2I1 NDUFA12 SEMA4A PLK4 MT-ATP8 MT-TV CNGA3 PDHA1 TTC21B ARL2BP RP1 EPG5 MT-ND5 AHI1 TRIM37 SOX10 GSS POMGNT1 CLRN1 NGLY1 UNC119 SDHAF1 HADHB MT-ND6 TNFRSF11B CHM ERCC5 SDHA RAX2 GDF6 GUCA1A PEX19 ERCC8 RAB18 RAB3GAP2 ZNF513 PEX1 AIRE PNPLA6 MT-TL1 RPE65 PCARE BBS2 RP9 RNASEH1 IMPDH1 MT-ATP6 ALMS1 FSCN2 CNGB3 NDUFA9 PITPNM3 MT-TK NDUFV1 ATXN7 PEX2 WRN ARL6 TBC1D20 POMT2 SURF1 HCCS AIPL1 SPATA7 DYNC2H1 NEK2 NCAPG2 PEX7 ECHS1 CERKL RAB28 FOXRED1 IFT88 POMT1 TTLL5 HADH PDE6A PEX11B OPN1MW PCYT1A MT-TF TUBGCP6 LARGE1 RGR TRIM32 NYX BBIP1 MT-CO3 DYNC2LI1 CFAP410 CRB1 PEPD NDUFAF6 MT-ND2 TTC8 BBS9 TACO1 GPR179 POLR3A FLVCR1 IQCB1 AKT1 NDUFV2 MT-TW CABP4 RAB3GAP1 NDUFS7 INVS IDH3A USH2A SLC19A3 AGBL5 FAM161A ARHGEF18 FLNB CDHR1 WDR19 NDUFS2 PEX6 NDUFAF2 NDUFAF5 ZNF408 NR2E3 HGSNAT MC1R RBP3 MT-ND4 CA4 SDHB SDCCAG8 AMACR PISD PAX6 COA8 MORC2 SNRNP200 NDUFA2 FKRP RDH12 SLC7A14 RRM2B WFS1 RPS6KA3 MFSD8 WDPCP CDH3 ERCC4 LZTFL1 TOPORS DRAM2 SUMF1 GNB3 ELMO2 MKS1 RNU4ATAC CNGB1 ERCC6 VPS33A NDUFA10 BBS1 PIEZO2 HADHA GRK1 KCNJ13 RLBP1 BBS10 SCAPER VPS13B PTEN ELOVL4 KIZ RP1L1 PEX13 IFT80 ROM1 GNAT2 MT-TS2 PDE6C KLHL7 EDN3 BEST1 TULP1 LRAT CRX NMNAT1 CEP164 PEX10 MFRP RD3 MT-TN TRPM1 ISCA1 POC1B GRM6 TNFRSF11A BBS7 NDUFS8 MT-TH IMPG2 NDUFS1 LIPT1 CTNNB1 NPHP3 AHR MAK PRDX1 PDE6G PEX14 DYNC2I2 RDH5 SLC24A1 CLCC1 SDHD OCA2 PRPF3 EDNRB PRCD PRSS56 PANK2 TAF2 JAG1 ADAM9 DHX38 PEX26 NDUFS3 MTFMT MKKS MT-TQ BBS5 PEX3 MITF BBS4 CEP120 KIF11 RIMS1 TMEM98 COX15 BBS12 LYST PEX12 REEP6 PEX16 SLC12A6 RNF216 ARL3 IDH3B ATF6 GUCA1B TUB MCOLN1 COX8A NPHP4 TUBGCP4 CAV1 PRPF6 APC MERTK ZFYVE26 TYR GNAT1 FLCN DHX16 LMNA PRPF8 ALDH3A2 ERCC2 PHYH MT-ND3 MTTP NDUFS4 OFD1 ERCC1 MT-CO2 DHDDS CP LRIT3 HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS MT-ND3 NDUFA11 NDUFS4 NDUFAF5 NDUFB9 NDUFS1 NDUFS8 NDUFAF1 NDUFAF3 NDUFAF4 NDUFS3 PROM1 NDUFS7 NDUFAF8 SLC2A1 NDUFB11 PRPH2 NDUFB3 NDUFB10 TIMMDC1 NDUFAF2 SLC35A2 CNGB3 NDUFV1 FOXRED1 PSAT1 ABCA4 ELOVL4 MT-ND2 NDUFS6 NDUFA6 NUBPL NKX6-2 MT-ND1 NDUFV2 NDUFA1 TMEM126B NDUFS2 HP_UVEAL_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_MELANOMA BAP1 GNAQ DMPK CYSLTR2 SF3B1 GNA11 HP_FLAT_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_CORNEA GTF2IRD1 BAZ1B CLIP2 LIMK1 MARK3 GTF2I ELN RFC2 TBL2 KERA PRDM5 HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY KIAA1549 TOPORS PDE6C ABCA4 PDE6H ATF6 IDH3A RPGR PROM1 ALMS1 GNAT2 PRPH2 RS1 CNGB3 RDH11 MFRP ELOVL4 ALDH3A2 TUB TRNT1 BEST1 VCAN CNGA3 SNRNP200 CRX HP_IRIS_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_HYPOPIGMENTATION LYST USH1G AP3D1 SNRPN TYRP1 TYR MLPH PITX2 OCA2 USH1C XYLT2 BEST1 PWRN1 ADGRV1 DTNBP1 HERC2 PDZD7 PRPH2 MKRN3 HPS4 SNORD115-1 HPS5 NDN PCDH15 SKI FOXE3 CLRN1 PWAR1 RAB27A ATP10A MYO7A IMPG1 MAGEL2 SLC45A2 MT-TS2 IMPG2 GABRD BLOC1S6 CEP78 AMACR MYO5A KANSL1 AP3B1 EPG5 UBE3A MC1R CIB2 KCNAB2 PRDM16 SOX10 WHRN BLOC1S3 GPR143 NPAP1 USH2A HARS1 PCYT1A HPS6 ARSG CDH23 ESPN SNORD116-1 RERE HPS1 HP_CHORIORETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSPLASIA FKTN OCRL HCCS POMGNT1 TUBGCP4 POMGNT2 COX7B DAG1 POMK POMT1 TUBGCP6 LARGE1 KIF11 FKRP CRPPA B4GAT1 B3GALNT2 COL4A1 RXYLT1 POMT2 NDUFB11 HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA KIAA1549 FLVCR1 ABCA4 CLRN1 RP9 ZNF513 CNGA1 IDH3A RP1 PCARE PRPF31 PRCD CLCC1 TULP1 CNGB1 FAM161A FSCN2 MFRP IMPDH1 USH2A RP1L1 RHO PDE6A PISD C8orf37 RPE65 CRB1 TTC8 SNRNP200 CRX EYS VPS13B HP_UNCONTROLLED_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONTROLLED_EYE_MOVEMENTS GABRB3 CACNA1H JRK GABRG2 GABRA1 POMGNT1 SLC2A1 HP_HYPOPLASIA_OF_THE_FOVEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FOVEA SLC24A5 IKBKG PDE6C PAX6 PDE6H TYR ATF6 RPGR NEU1 CACNA1F GDF6 GDF3 MC1R OCA2 GNAT2 BLOC1S3 C8orf37 UGP2 GPR143 HPS4 HPS5 CNGA3 CNGB3 SLC38A8 WT1 SLC45A2 HP_MACULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DYSTROPHY CDH3 SYCE1 MFSD8 TIMP3 MT-TK PEX1 IMPG1 MT-TL1 IMPG2 PRPH2 ELOVL4 MYO5A CHST6 MT-TE BEST1 PROM1 CCNQ BBS5 RP1L1 HP_RETINAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_TELANGIECTASIA FRG1 MT-ATP6 ACVRL1 MT-CYB MT-ND1 MT-ND4 MT-ND5 PCNA MT-CO1 CTC1 MT-ND2 NDUFS2 MT-ND4L STN1 SMAD4 MT-CO3 MT-ND6 GDF2 ENG HP_OPTIC_DISC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_HYPOPLASIA SNAP29 HNRNPU SALL4 APC POLR3A CHN1 PAX6 SRD5A3 DDHD2 MAFB FOXG1 TRIT1 NR2F1 GDF6 GDF3 HESX1 NFIX HP_IMPAIRED_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SMOOTH_PURSUIT ATXN8OS STT3A FGF14 PDHB TULP1 GNB1 TBCD KCND3 ATXN10 EEF2 MAN2B1 PEX10 WARS2 SYT14 NOP56 XRCC4 FTL ATXN3 CACNA1A TSEN54 ELOVL4 INPP5E PLA2G6 THG1L MRE11 ATXN1 TMEM216 POLR3B ITPR1 ATXN2 DPM2 RFC1 SACS SYNE1 PRNP PAFAH1B1 SPTBN2 RARS1 STXBP1 HP_VITREORETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREORETINOPATHY LRP5 COL11A1 P3H2 NDP COL2A1 COL9A1 NR2E3 FZD4 ERBB3 TSPAN12 COL18A1 CTNNB1 LOXL3 COL9A2 CAPN5 ZNF408 VCAN CRB1 COL9A3 KCNJ13 HP_POSTERIOR_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_SUBCAPSULAR_CATARACT OFD1 RBP3 IMPDH1 CNBP DMPK IMPG2 ZNF408 SPRTN PDE6A CHMP4B GJA8 TONSL ARL2BP REEP6 NF2 TULP1 OPA3 OAT ALMS1 ADAMTS18 EYS HP_MONOCHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCHROMACY CNGB3 OPN1MW PDE6C OPN1LW CNNM4 ATF6 PDE6H RPGR CNGA3 GNAT2 NBAS HP_OPTIC_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_COMPRESSION CA2 CLCN7 TGFB1 TCIRG1 TNFRSF11A SNX10 TNFSF11 HP_HORIZONTAL_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_PENDULAR_NYSTAGMUS CNGB3 MT-ATP6 ADAR LRP5 NUP62 HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING PRPH2 GUCA1A RHO PDE6C CACNA2D4 PDE6H GUCY2D DHX16 ATF6 RPGR RDH5 RLBP1 PROM1 GNAT2 CNGB3 ABCA4 ELOVL4 MT-ATP6 CTNS PISD CNGA3 SELENOI ERCC8 HP_CENTRAL_HETEROCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HETEROCHROMIA MAFB PNPLA6 SALL4 AKT1 CHN1 PTEN HP_ANTERIOR_CHAMBER_SYNECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_CHAMBER_SYNECHIAE FOXC1 COL8A2 CYP1B1 VSX1 COL18A1 ATOH7 PAX6 PITX2 OVOL2 B3GLCT FOXE3 GRHL2 MIR204 ZEB1 NDP HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS NMNAT1 PRPH2 AIPL1 ABCA4 KIAA1549 TOPORS RHO PDE6C RGR PDE6H CLRN1 IDH3B ZNF513 ATF6 MVK CNGA1 RPE65 IDH3A RPGR GGCX PCARE RDH5 RLBP1 PRCD RPGRIP1 CLCC1 GNAT2 CERKL RTTN BEST1 FSCN2 HLA-A USP45 USH2A RP1L1 FLVCR1 PDE6G PDE6A ROM1 C8orf37 TTC8 CNGA3 SNRNP200 IFT172 CNGB3 EYS HP_CONGENITAL_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BLINDNESS ATIC LRP5 XRCC4 NSMCE2 SARDH CEP290 LRAT RD3 HP_HYPOPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_FUNDUS TSC1 MIR140 GUCA1A IFNG BLOC1S6 GUCY2D PRPH2 GGCX SLC25A15 EPG5 SOX10 COL4A1 OCA2 MTTP MITF TSC2 PAX3 CACNA1F SLC45A2 PRPF8 GPR143 KIF7 TYR MC1R EDNRB HP_RETINAL_NONATTACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NONATTACHMENT IMPG2 ATOH7 BEST1 AKT1 PRPH2 IMPG1 PTEN HP_VITREOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREOUS_HEMORRHAGE PROC FZD4 BEST1 SF3B1 LRP5 CAPN5 BAP1 GNAQ NDP CYSLTR2 GNA11 RB1 RS1 HP_TRACTIONAL_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACTIONAL_RETINAL_DETACHMENT FZD4 NDP LRP5 TSPAN12 VCAN HP_SLOW_DECREASE_IN_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_DECREASE_IN_VISUAL_ACUITY MT-ND1 GUCA1A MT-ND4 TRAF7 MT-ND5 CTNNB1 TERT AKT1 MT-CO1 GUCY2D RAX2 NDUFS2 PRPH2 NF2 SMARCE1 BRAF MT-CO3 PDGFB MFN2 MT-ATP6 MT-CYB BAP1 SUFU FA2H PIK3CA MT-ND2 MT-ND4L MT-ND6 SMARCB1 DNM1L SMO RP1L1 HP_LACRIMAL_DUCT_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_APLASIA FRAS1 GRIP1 FREM2 SIX1 EYA1 HP_LIMITED_EXTRAOCULAR_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_EXTRAOCULAR_MOVEMENTS NDUFAF3 NDUFB8 VMA21 DMPK SURF1 LAMB2 COLQ TUBB2B HSD17B4 CHP1 VAMP1 NDUFS2 SCO2 HP_CORNEAL_OPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_OPACITY LCAT CLIP2 PEX11B FKTN LRP5 BUB1B MCOLN1 PAX6 CTNS PEX5 REV3L SUMF1 FGFR1 FOXE3 CRYBA4 ATP7B PIGN XPC DDB2 APOA2 RPGRIP1 PIGL HMX1 ELP1 LARGE1 GLB1 PEX6 RXYLT1 CEP55 BUB1 RIPK4 WT1 PEX2 OCRL SLC29A3 VSX1 PSMB8 COX7B GBA OCLN GTF2IRD1 PLCB3 NEU1 GTF2I MYORG NDUFB11 NSD2 FKRP IKBKG POMT2 SLC4A11 GNPTG TBCE ESCO2 RFC2 TBCK LDLR ATOH7 PRDM5 EP300 POMT1 FLNB CRPPA GJB2 PDGFB B3GALNT2 DST PEX1 HRAS OVOL2 ALDH18A1 IDUA FRAS1 B9D1 DYRK1A ASAH1 MAN2B1 TMEM107 TBL2 ERCC6 CYP1B1 KRT12 PITX2 LIFR PRDM12 PEX26 AIRE NGLY1 PEX13 FUCA1 NELFA COL18A1 TBX1 MKS1 CHST6 NAGA EPHX2 MMP2 KRAS XPA VAC14 GUSB ERCC8 LIMK1 SLC20A2 COL8A2 MMP14 MBTPS2 STS ZNF469 CRYGC GHR KDSR SMARCAL1 ABCA1 ATAD3A PEX3 CEP290 NTRK1 DHCR7 CRYBB2 NDP MT-CYB XPR1 COL11A1 PEX14 RAX HCCS VSX2 ERCC3 PEX12 POMK SCARF2 TMEM216 PXDN APOB GNPTAB CRYBB1 NCAPG2 MAB21L2 NRAS TMEM231 LETM1 COL4A1 ALDH3A2 PEX19 CRYGD IDS WDR73 PIK3R1 JAG1 GALNS ERCC5 CC2D2A NLRP3 UROS TGFBI BUB3 TCTN2 FIG4 COLEC10 GLA BMP4 ST14 CREBBP SC5D PEX10 TWIST2 SLC4A4 JAM2 RAB23 B4GAT1 MAF B9D2 PITX3 POLR3A ZMPSTE24 PEX16 B3GLCT CEP57 APOA1 PCSK9 TAT LTBP2 CHRDL1 MMP1 FERMT1 CENPF GJB3 SLC25A24 FOXC1 GJA1 YAP1 PLXND1 ERCC2 CRYAA PDGFRB WDPCP SREBF1 TRAPPC2 POMGNT1 GJA8 TMEM67 TRPV3 UBIAD1 RPGRIP1L CSPP1 COL7A1 GJB4 ZEB1 PPP1R17 TENM3 BAZ1B SOX2 GNAS ELN CTSA NOD2 KERA TRIP13 DAG1 APOE GRHL2 ERCC4 PORCN POMGNT2 KIF11 ARSB POLA1 LMNA HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS RDH11 PDSS2 RAB3GAP2 COX6B1 COQ2 ZNHIT3 PRPS1 HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM PAX6 NF2 CRPPA ATOH7 NDP BCOR HP_CONGENITAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_PTOSIS DNA2 ZFHX4 BRCC3 IGF1 TRIO HP_RETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSPLASIA FKTN COX7B FLNB DAG1 POMK FKRP POMT1 PDE6D NDUFB11 COL2A1 POMT2 POMGNT2 FOXE3 INPP5E B4GAT1 RXYLT1 HCCS POMGNT1 CRPPA TUBB LARGE1 NDP KIF11 B3GALNT2 COL4A1 HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS THG1L BEAN1 PRRT2 SOX3 PAX7 ITPR1 GRM1 SYT14 UROC1 KCND3 SCN1A SACS CACNA1A CACNA1G ATP1A2 HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS PRPH2 RDH5 RLBP1 RHO BRAF CTNNB1 PRPF3 HP_HYPOPLASTIC_IRIS_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_IRIS_STROMA MAFB FOXC1 PITX2 SALL4 MITF CHN1 PAX3 HP_PERIPHERAL_VISUAL_FIELD_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_VISUAL_FIELD_LOSS PRPH2 ABCA4 PROM1 RHO DLAT CWC27 RNU4ATAC GUCY2D PDE6A ZNF513 CNGA1 IDS RDH5 RLBP1 RPE65 PCYT1A POU3F4 SEMA4A CYP1B1 MYOC CRX CNGB1 AGBL5 HP_DECREASED_CORNEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CORNEAL_REFLEX CLTCL1 ALG11 ZFHX2 ELP1 WNK1 LIFR SCN9A NTRK1 KIF1A RETREG1 HP_ABNORMALITY_OF_MACULAR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION ABCA4 PROM1 RIMS1 CFHR1 RAX2 OPN1LW HMCN1 PCYT1A RAB28 PAX2 APOE MC1R OCA2 PRPH2 RD3 CNGB3 ELOVL4 CACNA1F OPN1MW MFSD8 MMACHC ADAR C8orf37 CDH3 CFHR3 CTNNA1 FOXE3 TMCO1 CRX SLC38A8 VPS13B HP_JERKY_OCULAR_PURSUIT_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS GBA2 PRNP SPTBN2 KCNC3 TTBK2 HP_PRIMARY_CONGENITAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_CONGENITAL_GLAUCOMA RPS19 ADAMTSL1 CYP1B1 LTBP2 TEK HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA SLC29A3 LDLR KERA APOA2 APOE APOB EPHX2 MMP2 PCSK9 ALDH18A1 GHR CHRDL1 PPP1R17 HP_ABNORMAL_IRIS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IRIS_PIGMENTATION LYST CLIP2 PEX11B USH1G KIT MYH11 AP3D1 TYRP1 TYR PEX12 PAX3 PEX5 PITX2 XYLT2 OCA2 DTNBP1 PNPLA6 PAH PDZD7 MITF PEX19 PRPH2 MKRN3 HPS4 SNORD115-1 MAPK1 ELP1 MLXIPL PEX6 EDN3 PCDH15 SNAI2 CLRN1 SOX10 RAB27A ATP10A MYO7A IMPG1 MAGEL2 SLC45A2 NDN MT-TS2 PEX2 BLOC1S6 SNRPN CEP78 SLC24A5 ACTG1 GTF2IRD1 GTF2I AP3B1 SOS1 UBE3A PEX10 PTEN ACTB PDE4D KCNAB2 PRDM16 RFC2 WHRN BLOC1S3 GNAQ TP63 PEX16 USH2A HARS1 HPS6 SALL4 GPR143 PEX1 CDH23 ESPN CHRDL1 AKT1 MC1R HPS1 UROC1 TBL2 PEX26 MLPH MAFB KITLG USH1C PEX13 BEST1 PWRN1 ADGRV1 HERC2 CHN1 ELN HPS5 SKI FOXE3 PWAR1 PRKAR1A BAZ1B IMPG2 LIMK1 LMX1B EDNRB GABRD AMACR MYO5A GATA1 KANSL1 CPAMD8 EPG5 CIB2 PEX3 NPAP1 PCYT1A ARSG SNORD116-1 RERE PEX14 HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS FGF10 FGFR3 SOX10 SLC25A24 FGFR2 HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY NOD2 RHO CLIP2 KIAA1549 SLC37A4 SMPD1 SLC7A14 NDP PDE6H TMEM127 SDHB SNRNP200 SMCHD1 TBX1 TOPORS SMAD4 DGCR6 EYS HSD11B2 SEMA4A EPAS1 VHL RP2 CTC1 RPGR UFD1 PRPF4 IDH3A CNGB1 PDE6B MLXIPL SAG MT-ND5 SELENOI PDCD10 NMNAT1 PRPH2 HEXB SEC24C IFT140 BBS2 NRL ZNF513 SDHAF2 GTF2IRD1 CNGA1 FH NEU1 GTF2I RLBP1 SCAPER ESS2 GPIHBP1 ENG RREB1 IKBKG MT-ND2 PRPF3 C8orf37 PDE6A CLCNKB HLA-A RFC2 KIZ LOXL1 RP1L1 GNAQ HIRA FRG1 MT-ND6 ROM1 CNGA3 SDHD ARL2BP RP1 ASAH1 KLHL7 AIPL1 TBL2 DGCR8 FZD4 BEST1 IGFBP7 AHI1 IVNS1ABP LRAT G6PC RPE65 PCARE POMGNT1 CLRN1 CRX LRP5 GP1BB COL4A1 ACVRL1 MT-ND4L PROM1 KIF1B ABCA4 LIMK1 MT-ND4 SDHA MT-ATP6 SLC25A11 GGCX NF1 GNAT2 IMPG2 RP9 MT-CO3 NEK1 MAX FSCN2 JMJD1C AHR TTC8 STN1 GALC MAK APOC2 DLK1 IFT172 PDE6G CRB1 ARL6 MT-ND1 DNMT3B RDH5 KRIT1 CLCC1 TULP1 NEK2 RET SPATA7 MT-CYB CERKL PRCD USP45 COMT IFT88 GM2A RDH12 PSAP SERPINC1 RGR IMPDH1 PDE6C DHX38 ENPP1 MVK NDUFS2 TREX1 RPGRIP1 MEG3 NR2E3 ETHE1 GDNF FLVCR1 RTL1 CAPN5 DGCR2 GDF2 CENPF REEP6 PCNA DNMT3A ARL3 IDH3B ATF6 MDH2 GUCA1B CYP1B1 ABCC6 USH2A ARVCF AGBL5 TUB ARHGEF18 PRPF31 FAM161A ELN CDHR1 PRPF6 SDHC MERTK CNGB3 DLST MYD88 BAZ1B HEXA GLB1 CTSA MT-CO1 ZNF408 HGSNAT DUX4 PRPF8 MYOC RTTN CCM2 RBP3 LRRC32 CA4 TMEM231 LPL OFD1 DHDDS HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE NOD2 RHO CLIP2 KIAA1549 NDP PDE6H TBX1 SETX SMAD4 EYS HSD11B2 TCF3 BTNL2 XPC DDB2 VHL RP2 RPGR PRPF4 PDE6B SCN9A MLXIPL ICOS SAG SELENOI STAT4 FGFR2 PDCD10 NMNAT1 PRPH2 TOPORS SEC24C IFT140 TFRC NRL IL23R PSMB8 SMPD1 CNGA1 NEU1 GTF2I GSN ENG MT-ND2 C8orf37 CLCNKB ERF GNAS GNAQ FUCA1 CNGA3 NLRP3 ARL2BP RP1 AIPL1 CR2 TBL2 DGCR8 IGFBP7 AHI1 G6PC IGHM POMGNT1 CLRN1 GP1BB COL4A1 UBAC2 MASP1 KIF1B ERCC1 SHMT2 LRRC8A LIMK1 TP63 MT-ND4 NLRP1 MT-ATP6 MPLKIP ZNF513 DNASE1L3 SLC25A11 AIRE HLA-DRB1 IL12A PCARE GJB6 RP9 MT-CO3 HLCS FSCN2 C4A GALC APOC2 MT-ND6 MAB21L1 IFT172 ARL6 LBR DNMT3B SDHB NEK2 WIPF1 CERKL TNFRSF13C COMT IFT88 PDE6G PDE6A USB1 PSAP CCR1 BLNK FOXC2 RGR IMPDH1 ENPP1 FZD4 GLA NDUFS2 AP1B1 TREX1 TTC8 ETHE1 FLVCR1 CAPN5 ERCC2 RAG1 BTD DGCR2 GTF2H5 MT-ND5 PCNA ERAP1 MAX BTK IDH3A AEBP1 RET ERCC8 ABCC6 USH2A RPE65 AGBL5 ARHGEF18 TNFRSF1A SMCHD1 XPA CDHR1 IGLL1 SDHC COL7A1 HLA-B DLST MEFV ELN CTSA ZNF408 HGSNAT DUX4 MYOC ERCC6 RBP3 LRRC32 CA4 ERCC4 MT-ND1 LPL CD79A ABCA4 SNRNP200 SLC37A4 SLC7A14 SAMD9 TMEM127 RNF113A CD19 DGCR6 SEMA4A EPAS1 CTC1 UFD1 CNGB1 VPS33A B2M HEXB ACVRL1 BBS2 GTF2E2 IL10 SDHAF2 FAS GTF2IRD1 FH RLBP1 SCAPER ESS2 GPIHBP1 RREB1 IKBKG PRPF3 HLA-A CD79B RFC2 KIZ LOXL1 RP1L1 HIRA FRG1 ROM1 GJB2 SDHD ASAH1 KLHL7 BEST1 IVNS1ABP LRAT CRX LRP5 MT-ND4L SLC39A4 PROM1 FOXE3 SDHA UROS PSMB9 MBTPS2 GGCX NF1 GNAT2 IMPG2 STX11 NEK1 IL12A-AS1 IGSF3 JMJD1C POLH AHR STN1 MAK DLK1 IKZF1 FOXC1 CRB1 ANO10 MANBA ATM ERCC3 RDH5 SREBF1 KRIT1 CLCC1 TULP1 SPATA7 MT-CYB STX16 PRCD USP45 WAS GM2A RDH12 RNF125 SERPINC1 ERCC5 TKT PDE6C DHX38 PSMB4 MVK RPGRIP1 MEG3 NR2E3 LRBA GDNF RTL1 TARS1 GDF2 MMP1 FERMT1 CENPF REEP6 TLR4 DNMT3A ARL3 IDH3B ATF6 IARS2 MDH2 GUCA1B RNF168 CYP1B1 MAPT GATA1 ARVCF KAT6A TUB TNFRSF13B PLG PRPF31 FAM161A SLC52A2 PRPF6 MERTK CNGB3 MYD88 BAZ1B HEXA GLB1 MT-CO1 KLRC4 PRPF8 PIK3R1 RAG2 RTTN CCM2 TMEM231 MTTP OFD1 DKC1 DHDDS PEX6 HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES MATR3 PHOX2A TUBB3 RRM2B TUBB2B POLG KIF21A TYMP HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES KDM1A KDM6A CLIP2 NFIX UNC80 PUF60 TRAK1 CDH11 NALCN YY1 FOXL2 PEX5 WNT5A ATRX SF3B4 QRICH1 SUZ12 DMD MAP3K7 ABCC9 CCDC115 BRCA1 ZIC1 GDI1 SLC1A2 CEP152 DPYD CCDC22 MTOR TUBB IFT27 CXorf56 PEX6 KANSL1 CREBBP LIG4 MAGEL2 MAN1B1 FAM20C RAC1 SNRPN ARHGEF6 TBX15 SPART CENPJ KCTD1 ABAT ASXL1 FANCM DSE NSUN2 ACTL6A NDN FIBP EP300 BPTF FGF10 BRF1 TBL2 DHODH DGCR8 TBR1 RBMX GABRA2 MAP11 GPC3 CHAMP1 DEAF1 PEX26 PIK3CA XRCC2 SOS1 GP1BB UPF3B ADNP LMX1B SETD5 NELFA TXNL4A DYNC1H1 MUSK TCF4 KCNE5 HERC2 MYOD1 SALL4 IQSEC2 PYCR2 FBN1 MASP1 GPC6 BRAF ACTB ORC1 VAC14 SATB2 NBN LIMK1 SIM1 MSL3 GATA1 SMARCA2 CKAP2L COG7 PLK4 CACNA1A POLR1B RDH11 GMNN SMS SPECC1L ATAD3A HUWE1 ODC1 DHCR7 CENPE NPAP1 LRP4 RAD51 YWHAG DVL3 KIF7 SNORD116-1 SEMA5A CHRNG DPH1 PYCR1 KIFBP PAX3 CENPT NOVA2 IGF1R MN1 RECQL4 MAF HSPG2 SIN3A PGAP2 TTC37 PIGA KMT2E FANCD2 COMT KCNB1 RLIM GPKOW DLX4 MKRN3 SNORD115-1 MADD MECP2 CLCN4 KLF13 ASPH MED25 AARS1 NAA10 CRKL TMEM107 BUB3 UGDH EIF2AK3 GRIN2D FLCN ALX4 PQBP1 RPL10 PEX10 RIT1 BBS9 KCNH1 CNKSR2 MAP2K1 DONSON ZBTB20 TP63 C12orf57 B3GLCT EHMT1 EFNB1 RBPJ AKT1 NONO IL1RAPL1 NUS1 UBE3B RBM10 AMMECR1 OCA2 IFT172 PHF8 SLC25A24 BMP2 DOCK3 NSD1 TAF1 KCNJ2 FHL1 DVL1 NOTCH3 FRMPD4 TBX1 GJA1 FANCC CHN1 PSMD12 RRAS TENM3 SLC19A3 NECTIN1 KAT6B ELN NPHP1 GATA4 TAF13 SLC39A13 SPOP GABRA5 PRMT7 STRA6 SC5D HNRNPK NRAS DCHS1 WAC ATP6V0A2 WDR35 MAD2L2 CWC27 TBL1XR1 TTC8 FTSJ1 HCFC1 WDFY3 PTCH1 PPP1R12A TMCO1 KCNMA1 PEX11B CACNA1G PGAP3 COLEC10 MED12 KRAS NTRK2 DGCR6 RRAS2 PIGV PRRX1 CD96 APC FLNA USP9X MYT1L UFD1 B9D2 PIGL PHOX2B MAPK1 GDNF SLX4 TRMT1 FBXO11 ACTL6B GABRB2 SMC1A KAT8 RAI1 ANKRD11 BBS1 PIEZO2 SETD1B SOX6 ZNF462 MED13 GTF2IRD1 DLK1 SZT2 DNAJC21 ESS2 BMP1 STXBP1 ESCO2 SEC24D TRRAP COL11A2 RFC2 PALB2 TRIP12 ANK1 AHDC1 GATAD2B SEMA3E RPS6KA3 MAP2K2 EZH2 BCR ATR ORC6 KNL1 ALG14 DDX6 SASS6 MRAS LRP2 WASHC5 ERCC6 ZMIZ1 MEF2C HCN1 CDK19 SON FOXP1 CNOT3 POLR1D PTPN11 FGFR2 CDH2 MCTP2 FOXE3 CAMK2A SNAP29 SETD2 CDK13 EEF1A2 ADAT3 TRIO FANCE CHST3 FGF3 SMAD4 PURA RIN2 FGFR1 FGFR3 CTU2 PDGFRB TRAIP JMJD1C CBL TLK2 UQCC2 PHIP WDR62 INTS1 CNOT2 ZNF81 CUL4B LZTR1 TBCD NSDHL SLC2A10 PUS7 NR2F1 HBB STIL MYMK ARID2 SVBP RTL1 EBP ACTG1 TOE1 METTL5 CHRNA7 MOGS ANKLE2 CDK10 HERC1 PIGY SOX5 SLC45A1 TFAP2A PEX16 CEP57 KIF11 MVK FANCF ALG13 CIT PPP2R5D PCGF2 SLC13A5 MYH3 MED13L MFSD2A RET COL11A1 ALDH6A1 PTCHD1 ARVCF DACT1 GLI3 RNU4ATAC TCOF1 FLI1 CYFIP2 HDAC4 TOR1A AFF4 SLC16A2 STAC3 ADAMTS3 PIGO BAZ1B ZMPSTE24 FANCL PHF6 EDN3 HS6ST2 SDCCAG8 MYCN SH3PXD2B CDK5RAP2 HNRNPU THOC6 KLHL7 PCLO P4HB UMPS TRAPPC4 DPM1 DHDDS ARV1 PIGW HHAT BUB1B SMPD4 ATP7A ARX KIAA1109 GABRG2 LMNA SLC6A17 BCOR IGBP1 TRMT10A KMT2A MEIS2 SKI CHST14 HNRNPH2 MLXIPL COPB2 OFD1 NECAP1 FBXW11 RBBP8 PEX2 OCRL SEC24C ADAMTS2 MEG3 DLG3 ATP6V1A RPS19 GTF2I SCN8A HBA2 ASCL1 CLTCL1 CHD1 SOS2 TELO2 MIR140 OTUD6B AUTS2 SNX14 DDR2 CEP55 ARHGEF2 PEX13 DYNC1I2 PPP1R15B ATP6V1B2 DYNC2LI1 DHCR24 PWAR1 HRAS C8orf37 C2CD3 XRCC4 MCPH1 LDHD SALL1 NTNG1 TCF20 SCN3A SEPTIN9 UBE2A KCNA2 NFIB ADAMTSL2 ERCC1 EFTUD2 PEX3 NOTCH2 FZD2 RPS28 CERT1 PEX14 RAB11B ZIC2 STAG2 LARP7 PIGB PCNT POLR1C PMM2 PAK3 LETM1 FAT4 SPRED1 DNMT3A ASXL3 PHC1 POLR3A SETD1A EED PDE4D ASPM KPTN GPC4 TSR2 TRIM32 PKDCC ERMARD BBIP1 B3GAT3 AMPD2 AGTR2 PEX7 ABCA5 PGM3 PIK3R2 KCNN3 PTEN COLEC11 AP1S1 BCL11A HBA1 IFT57 ERCC4 TFAP2B DGCR2 CAMK2G SYNJ1 HSD17B4 EXOSC2 ZNF41 FGD1 CDC42 POLR1A PAFAH1B1 OSGEP TSPEAR SOX9 SLC9A7 KMT2C UBA5 UBE3A ZSWIM6 TGFB3 NF1 BCORL1 CAMTA1 TRIP13 COG1 TGFB2 UBE2T RAPSN ADARB1 AP4E1 ATP6V1E1 PARS2 YWHAE DNM1 CLTC CSGALNACT1 PACS1 RNF135 RAB18 CTNND2 WDPCP MGAT2 LZTFL1 TNNI2 ACSL4 RASA2 ATRIP DOCK6 FLII ARID1B MAPRE2 KIF15 MAPK8IP3 RAF1 BUB1 FANCB MEGF8 BMPR1A ZEB2 TBX6 BBS10 NSD2 VPS13B RREB1 TANC2 TBCK HIRA ZNF148 GSC PEX1 KDM5C BCL11B KDM5B RAB3GAP2 LIFR A2ML1 FANCI MAFB NARS1 PPP2R1A PIGN PACS2 CHD7 CLP1 FOXG1 MED12L KMT2D RAD51C SYNGAP1 TUBGCP2 GLE1 SMOC1 POLA1 GAD1 BBS7 ROR2 RERE TUBB3 CHD4 CEP135 DMXL2 CEP63 ARL6 PEX12 SCARF2 NCAPD3 PIGT FGF12 NXN PEX19 VPS35L CCNK SYP BRIP1 EFEMP2 JAG1 CEP290 MID2 SLC29A3 ERF KIF14 DALRD3 BGN SOX11 BRPF1 FIG4 CDK6 APC2 ZNF711 PPP3CA MKKS AP3B1 BBS5 AP3B2 FBXL4 BBS4 SETBP1 PPP1CB WASF1 BBS12 CHD8 GALNT2 TMEM237 TSPAN7 RAB39B DOK7 BRCA2 MPDZ PWRN1 RHOA MKS1 WWOX DYRK1A CACNA1B USP27X TASP1 DPF2 SYT1 RFWD3 FANCG TWIST2 RTTN FANCA SMO ZC4H2 EBF3 BBS2 HP_RETINAL_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FOLD FZD4 NDP TUBGCP6 KIF11 LRP5 ATOH7 PRSS56 HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE ERCC5 CTSA ANO10 ACVRL1 MANBA ENG ATM ERCC3 GLA ERCC2 RNF168 SETX SMAD4 PCNA ERCC4 XPC DDB2 GNAQ SLC52A2 FUCA1 MASP1 GDF2 XPA PEX6 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE LYST CLIP2 LRP5 WT1 SALL4 PUF60 HHAT FKRP AP3D1 NDP BUB1B PDE6H PROP1 FOXL2 STAG2 FANCE ERCC3 CRYAA HESX1 TBX1 RMRP NHS BTRC RB1 PRPS1 BRCA1 FGFR1 ZIC1 FOXE3 LHX4 BCOR FANCI ERF PAX6 DIS3L2 RPGRIP1 TUBB EOGT LARGE1 NOTCH1 CEP55 SLC45A2 ITPR1 CPLX1 TBC1D20 OCRL SEC24C BRIP1 ROBO1 RBPJ TYR COX7B TBX15 DLX6 NEU1 GTF2I NSD2 PIK3R1 NDUFB11 FANCM NDE1 CACNA1F RSPO2 ABCA4 RPGRIP1L WDR37 BLOC1S3 C8orf37 FANCC TUBGCP4 SEMA3E CNGA3 B3GALNT2 FRAS1 TMEM107 MIR140 TBL2 FBN1 TBR1 SEM1 FAM111A FREM1 PIK3CA ALX1 XRCC2 GP1BB ARHGAP31 RBBP8 EPS15L1 COL18A1 OCA2 MITF ERCC5 MYO5A MKS1 ACTB C12orf57 POMT2 CDON ERCC1 VAC14 CASK RAB18 RAB3GAP2 LIMK1 TRIP13 MPLKIP LDHD LTBP2 SLC25A11 SALL1 VSX2 DLX5 FOXG1 POMT1 MIR184 INTU TRIM28 GLI2 GPC3 PITX2 ATAD3A YAP1 RBP4 DHCR7 RAD51 RAX DPYD HCCS IGF1R FOXC1 POMK POLR1C TMEM216 HSPG2 PTPN23 NFIX HDAC6 SIX6 PEX7 PROKR2 COL4A1 FANCD2 COMT WNT3 LETM1 VHL SMG9 WDR73 FDFT1 ALX3 ASPH MED25 GMPPB SMCHD1 CTDP1 GJA1 GDF6 STIM1 BUB3 TCTN2 ACTG1 CRB1 BMP4 ZEB2 ALX4 TUBA8 PQBP1 SOX10 POLR3A ATF6 BRCA2 MBTPS2 SDHB PTCH1 ERCC4 ERCC2 ELP4 SLC38A8 RECQL4 GTF2H5 RAB3GAP1 MAX SOX3 ERCC8 SLC25A24 OSGEP FREM2 POMGNT1 LHX3 DAG1 CHN1 SDHC MFRP DLST PPP2R1A TENM3 SLC24A5 RNF113A SOX2 ELN FOXA2 STRA6 CPAMD8 WNT10B HNRNPK UBE2T MC1R ERCC6 PLK4 MAD2L2 TBL1XR1 UGP2 KNSTRN PAX3 FBXW11 KIF11 FANCG SPOP RNF135 KIF1B FKTN APC GLI3 COL2A1 SMO COX14 CEP120 SH2B1 CSPP1 DOCK6 PIGN UFD1 MAPRE2 HPS4 SLX4 HMX1 TUBGCP6 TKFC POU1F1 RXYLT1 BUB1 RIPK4 ANKRD11 FANCB HMGB3 PIEZO2 NUP188 GTF2E2 HYLS1 SDHAF2 SRD5A3 GTF2IRD1 FH DONSON VPS13B VAX1 NAA10 RREB1 IKBKG POMGNT2 TBCE ESCO2 ELOVL4 RFC2 PALB2 SETD5 NRAS ATOH7 HIRA CRPPA HPS6 ADAMTSL1 MEF2C B9D1 LAMB2 SYCE1 GPR161 PIK3CD BEST1 SHH DDHD2 MAFB LRP2 SMAD4 CNGB3 CHD7 SCN8A SON CEP290 SUFU BDNF RAD51C FANCL H19 REST SMOC1 SNAP29 SDHA OTX2 PTF1A TRIM44 POU6F2 NF1 PHGDH GDF3 GNAT2 RARB RTTN GRIP1 MAF RERE JMJD1C MT-CYB TUBB3 PTCH2 MED12 SDHD DLL4 INTS1 FANCA PXDN XYLT2 DOCK7 PDE6D SIN3A TMEM98 RET MAB21L2 KIF7 TMEM231 ARNT2 VPS35L ALDH1A3 PRSS56 EBP NR2F1 PORCN CC2D2A TMEM127 PDE6C FIG4 PROM1 MAP2K2 PRPH2 B9D2 GRIA4 TFAP2A CEP57 PPP1CB TARS1 CENPF FANCF WDR11 MED13L RPGR TMEM237 ALDH6A1 MDH2 CTBP1 DNMT3A ARVCF MPDZ DACT1 WDPCP RHOA FGFRL1 TCOF1 TMEM67 HPS5 PITX3 HRAS FGF3 BAZ1B ABCB6 LMX1B TP63 SIX3 ADAMTS10 TRIT1 PAX2 RFWD3 KRAS KIF14 POLR1D HNRNPU PHYH GPR143 B4GAT1 GATAD2B HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS LYST FKTN SALL4 PUF60 APC PAX6 FKRP AP3D1 PDE6H PROP1 STAG2 TYR FOXC1 HESX1 FGFR1 PTPN23 OTX2 OCA2 PRPS1 NFIX SIX6 POMGNT1 ZIC1 LHX4 PROKR2 FANCI ERF CRPPA HNRNPK ARNT2 CASK HPS4 HMX1 ALDH1A3 POU1F1 FDFT1 DDHD2 NR2F1 WT1 GMPPB ANKRD11 SLC45A2 PDE6C ROBO1 SLC24A5 SRD5A3 NEU1 TUBA8 PROM1 MAP2K2 NDE1 CACNA1F PRPH2 POMT2 RSPO2 ABCA4 ELOVL4 GRIA4 BLOC1S3 POLR3A ATF6 C8orf37 MBTPS2 GLI2 HPS6 CNGA3 PPP1CB CENPF MEF2C LARGE1 MC1R SLC38A8 WDR11 GPR161 PIK3CD WNT3 SOX3 MAFB RPGR DNMT3A GDF6 MPDZ CNGB3 SCN8A SON COL18A1 SOX2 LHX3 POMK CHN1 MYO5A HPS5 FOXE3 CDON PPP2R1A SNAP29 RNF113A IKBKG B3GALNT2 FOXA2 PTF1A FOXG1 TRIM44 POMT1 TRIT1 GDF3 KIF14 GNAT2 RTTN HNRNPU ATAD3A MAF UGP2 GPR143 KNSTRN TUBB3 GATAD2B MED12 SPOP RNF135 HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE FKTN SALL4 PUF60 APC FKRP PROP1 STAG2 HESX1 FGFR1 PTPN23 PAX6 OTX2 PRPS1 NFIX SIX6 POMGNT1 ZIC1 LHX4 PROKR2 FANCI ERF CRPPA HNRNPK ARNT2 CASK ALDH1A3 POU1F1 FDFT1 DDHD2 NR2F1 WT1 GMPPB ANKRD11 ROBO1 SRD5A3 TUBA8 MAP2K2 NDE1 POMT2 RSPO2 GRIA4 POLR3A MBTPS2 GLI2 PPP1CB CENPF MEF2C LARGE1 WDR11 GPR161 PIK3CD WNT3 SOX3 MAFB DNMT3A GDF6 SCN8A SON SOX2 LHX3 POMK CHN1 FOXE3 CDON PPP2R1A SNAP29 RNF113A B3GALNT2 FOXA2 PTF1A FOXG1 POMT1 TRIT1 GDF3 KIF14 RTTN HNRNPU ATAD3A KNSTRN TUBB3 GATAD2B MED12 SPOP RNF135 HP_APLASIA_HYPOPLASIA_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA LYST PAX6 AP3D1 PDE6H TYR ATF6 FOXC1 RPGR GDF6 OCA2 MPDZ CNGB3 COL18A1 HPS4 MYO5A HMX1 SLC45A2 HPS5 FOXE3 WT1 SLC24A5 IKBKG PDE6C NEU1 TRIM44 PROM1 CACNA1F GDF3 MC1R GNAT2 PRPH2 ABCA4 ELOVL4 BLOC1S3 C8orf37 MAF UGP2 GPR143 HPS6 CNGA3 SLC38A8 POMGNT1 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE SDHD FOXC1 CLIP2 WT1 HHAT PAX6 COL2A1 IGF1R PITX2 TMEM216 NDP XYLT2 BTRC BRCA1 FGFR1 RET FOXE3 TMEM231 COL4A1 FANCD2 DIS3L2 LETM1 RPGRIP1 VHL SLX4 HMX1 WDR73 PIK3R1 BRIP1 PORCN CEP55 FANCB ITPR1 CC2D2A CPLX1 TMEM127 STIM1 TRIM28 TCTN2 DLX6 SDHAF2 GTF2IRD1 FH GTF2I NSD2 FANCM B9D2 SOX10 RFC2 PALB2 BRCA2 SDHB ERCC4 ELP4 ADAMTSL1 SALL4 FANCF B9D1 LAMB2 TMEM107 TBL2 FBN1 ERCC6 SEM1 MAX FANCI MAFB MDH2 LRP2 CTBP1 XRCC2 WDPCP FGFRL1 EPS15L1 TMEM67 BDNF FANCC CHN1 RAD51C MKS1 RPGRIP1L CSPP1 H19 SDHC REST FGF3 MITF DLST BAZ1B LIMK1 ELN LMX1B SDHA TRIP13 LDHD LTBP2 SLC25A11 FANCL TP63 FANCE DLX5 TRIM44 POU6F2 NF1 ADAMTS10 CPAMD8 WNT10B MIR184 UBE2T RFWD3 FAM111A FANCG FANCA GPC3 MAD2L2 CEP290 PAX3 MT-CYB RAD51 FBXW11 KIF1B HP_APLASIA_HYPOPLASIA_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LENS LTBP2 LMX1B FBN1 COL2A1 MT-CYB HMX1 FOXE3 FBXW11 ADAMTS10 CPAMD8 XYLT2 FGF3 NDP HP_ICHTHYOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ICHTHYOSIS VPS33B LIPN NOD2 ALOX12B AP1B1 ANOS1 SLC27A4 ELOVL4 RNF113A SULT2B1 TMEM43 ARSL DSP PEX19 PNPLA1 SUMF1 TARS1 FGF17 SPINK5 PEX5 PROKR2 PIGL SBDS ERCC3 KRT10 TGM1 KANSL1 SGPL1 KRT1 IL17RD FEZF1 ASPRV1 SLC29A3 LORICRIN GTF2E2 PEX1 ALOXE3 SRD5A3 NSDHL PEX10 FHL1 CLDN1 LSS KRT9 GJB2 PEX14 HRAS CYP4F22 PHGDH ABCA12 TGM5 PSAT1 NEK9 GBA HESX1 GTF2H5 NIPAL4 SNAP29 PEX13 PEX26 FITM2 FGF8 EMD SRP54 ABHD5 FLG SHOC2 MPLKIP SYNE2 MBTPS2 SLURP1 MSMO1 STS BRAF CERS3 STIM1 HS6ST1 ST14 EBP CCDC141 MAP2K2 PEX11B KRT2 POMP PEX6 PEX12 DCC SREBF1 CHD7 PEX7 SEMA3A PIGA CHKB NRAS IL2RB KRAS CARMIL2 GINS1 VIPAS39 ALDH3A2 ERCC2 CSTA NLRP3 DNAJC21 WDR11 AP1S1 MAP2K1 PEX16 ORAI1 AHSG NSMF KRT14 EFL1 SOX10 LMNA PEX3 DOLK COL4A5 FGFR1 CARD14 TACR3 KRT16 GJB6 FLRT3 DUSP6 SPRY4 ITGB6 NDNF PROK2 PHYH RIN2 SYNE1 PEX2 TMPRSS6 KISS1R SDR9C7 HP_APLASIA_HYPOPLASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN ABL1 HSPA9 LAMB3 UBR1 MVK COL5A2 ERCC3 PTDSS1 TP63 AEBP1 SMO ARFGEF2 TINF2 TWIST2 ITGB4 DOCK6 XPC DDB2 CTC1 RTEL1 PYCR1 FBN1 EOGT PARN COL1A2 KDF1 NOTCH1 TGFBR1 KRT5 TERT SMARCAD1 B3GALT6 C1S CPLX1 C1R COL7A1 RBPJ B4GALT7 KRAS ARF1 COX7B KCTD1 NSD2 PIK3R1 NDUFB11 GSN TNFRSF11A COL1A1 ZMPSTE24 LAMA3 COL17A1 KRT14 TMTC3 LMNA SMAD3 PLEC DST TGFBR2 ALDH18A1 ERCC4 ERCC6 USP8 LIFR DDR2 UROD DSE NELFA ARHGAP31 DSP LAMC2 COL3A1 PROS1 ALX4 CHUK SLC2A10 MCTP2 ORC1 XPA SATB2 TNXB ANAPC1 MYH3 ENPP1 WRAP53 PDGFRB COL5A1 SOX18 CHST14 NHP2 MAP1B DHCR24 POLH DKC1 CHRNG WRN KRT2 ADAMTS2 RECQL4 DLL4 HCCS PDE8B TERC LETM1 CARMIL2 AIP PRKAR1A GNAS POLR3A MGP NFIX FLNA CUL4B EBP PORCN PDE11A ERCC2 POLD1 USB1 ERCC5 EDA FKBP14 CTSC PEPD LEMD3 PROC PRKACA ARL6IP6 ABCC6 TFAP2A ACD PPP1CB NEDD4L MMP1 FERMT1 MSX2 NPM1 ARMC5 ERMARD TCIRG1 EDARADD EDAR TRAF6 CTBP1 PPARG CDH23 FGFRL1 TAF1 ANTXR2 ATM ATP6V1B2 PLOD1 BMS1 GORAB PMVK ITGA6 DLG4 SLC39A13 NOP10 PRKD1 MTAP TGFB2 SLC29A3 TP53 UBE3B HP_ABNORMAL_BLISTERING_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLISTERING_OF_THE_SKIN COL7A1 LAMB3 RECQL4 COL17A1 LAMC2 ITGB4 CPOX TERC HLA-DRB1 SLC6A19 JUP KIT HLA-DQB1 MEFV RTEL1 TCIRG1 ANAPC1 CCR1 DSP KRT5 STAT4 KRT1 TNFSF11 TERT USB1 IL23R IL10 FAS KRT10 CYP26C1 KRT14 PKP1 IKBKG KCNAB2 PRDM16 AQP5 LAMA3 PARN ITGA3 PLEC MMP1 FERMT1 GJB3 TINF2 CLCN7 ECM1 NPM1 ERAP1 GJA1 TLR4 TGM5 FOXP3 GATA1 CSTA UBAC2 SLC39A4 SKI GJB4 HLA-B ITGA6 GABRD KLRC4 UROS NOP10 IL12A SMARCAD1 KDSR CTC1 WRAP53 IL12A-AS1 NHP2 SNX10 C4A BLM DKC1 RERE IKZF1 PPOX KRT2 HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN CLIP2 IFT43 RPS6KA3 COL5A2 ATP7A GORAB PTDSS1 AEBP1 SPINT2 ZNF469 GGCX TINF2 ATP6V0A2 FGD1 CD96 TWIST2 NAA10 SKI CHST14 PYCR1 ELN PARN SUZ12 MLXIPL COL1A2 COL1A1 MRPS22 B3GALT6 C1S C1R NDUFB11 FOXC1 TNXB ADAMTS2 B4GALT7 MEGF8 MEG3 GBA TERT GTF2IRD1 DLK1 GTF2I GSN FBLN5 KIAA0586 RFC2 WDR37 PEX1 TUBB ALDH18A1 EZH2 BCL11B FGF10 TBL2 TGM5 OSMR MAN1B1 DSE CEP55 GPX4 COL3A1 AKT3 XYLT2 SLC2A10 HRAS VAC14 LIMK1 FGFR2 EXOC6B NEPRO CHST3 SMARCA2 FBN1 ENPP1 TRPS1 RIN2 FGFR3 PDGFRB COL5A1 FLNA INSR YY1 EFEMP2 MAP2K2 SLC7A7 SLC6A8 TBX15 PITX2 PTEN NBAS SRD5A3 KRAS PRDM5 EED PIK3R1 BRAF MRPS16 IARS1 RTL1 FKBP14 FIG4 B3GAT3 HPGD ATP6AP2 RTEL1 RIT1 SLC26A2 ABCC6 MAP2K1 SLC25A24 ANTXR1 ACD EHMT1 PTPN11 EXT1 LTBP4 ATP6V1A COL12A1 XYLT1 CSTA KMT2C PLOD1 CSPP1 BAZ1B NSD1 SLC39A13 PUF60 TGFB2 PAX2 WDR19 RAF1 ATP6V1E1 WDR35 MAPRE2 FGF20 NPR2 NDUFB10 TBL1XR1 DKC1 HP_NEOPLASM_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKIN STAT1 CD28 KIT STK4 APC MLH1 HPGD CDKN2A VEGFC TMC6 ERCC3 RNF113A CXCR4 PRKAR1A SMARCE1 SLX4 FGFR1 PMS2 CDKN1B KRAS FAS TCF3 PIK3CA FLT4 XPC DDB2 NRAS DCLRE1C SEC23B PLCD1 SNAI2 KRT1 TERT TRPV3 SLC45A2 AKT1 GNAS TMC8 OCRL FAN1 GTF2E2 KRT6B TYR BMPR1A DOCK8 USF3 CIB1 COL1A1 IKBKG MVD KLLN CD79B PRKCD MSH6 KRT14 KRT9 EP300 BAP1 GJB2 SMARCB1 HRAS EPCAM TSC1 MLH3 ECM1 IVNS1ABP NTHL1 SLCO2A1 ING1 IGHM WNT10A CASP10 PDGFB SDHD CTLA4 SUFU CREBBP LAMC2 CYLD NF1 XPA NUTM1 KRT5 LRRC8A MPLKIP DICER1 PMVK ANAPC1 RASGRP1 GJC2 TINF2 MSH2 LZTS1 KDSR PTEN MSH3 TP53 CTNNB1 NLRP1 KRT17 POLH FDPS BLM PTCH2 TNFRSF1B NF2 IL7 FASLG SMO WRN RECQL4 TRAF7 ERCC4 WWOX MEN1 LAMB3 OCA2 TGFBR2 CARMIL2 SPRED1 RNF6 RMRP LMNA SLC17A9 ERCC2 BLNK SDHB PSENEN ERCC5 STIM1 IFNG GNA14 CTSC KRT16 MBTPS2 FH PTCH1 CDK4 SDHC NOTCH3 TARS1 MMP1 FERMT1 GJB3 GTF2H5 KEAP1 MC1R DMPK GJA1 MVK COL7A1 TERC FLCN PMS1 WRAP53 RSPO1 TNFRSF10B PERP IGLL1 ALX3 GJB4 GJB6 BRAF BRD4 FCN3 RPS20 PDGFRB LAMA3 PIK3R1 MITF IL6 PORCN SASH1 TNFRSF4 GPR143 TSC2 SEMA4A CD79A RASA1 DKC1 KRT6A DCC HP_SPARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_HAIR KDM1A IFT43 DSG4 UBR1 FSHR FOXL2 DSG1 GNRH1 IFT122 SF3B4 RMRP TINF2 LMNA TRMT10A CEP152 RTEL1 HR EOGT KDF1 NOTCH1 NR5A1 CREBBP TRPS1 LIG4 LSS RBBP8 OCRL ALOX12B RBPJ PSMB8 KRAS ARID1A GTPBP2 CENPJ KCTD1 ITGB4 KIFBP CBS AXIN2 GSN NSUN2 RNU4ATAC SEC23A COL17A1 CLDN1 COL11A1 NECTIN1 KRT74 ALDH18A1 CYP4F22 DMRT3 BRF1 LHB TP63 B3GALT6 WNT10A ZMPSTE24 ALX1 WDR11 GATA4 ARHGAP31 PPP1R15B FRMD4A FLNA NHP2 CDH3 CARS1 SHOC2 HRAS VAC14 KRT86 SATB2 ERCC8 MAP3K1 PTDSS1 EDNRA MPLKIP BRAF SMARCA2 DCAF17 GJB6 CBL LAMC2 PLK4 KRT25 CTC1 LPAR6 CDSN ODC1 SOX18 KRT71 CENPE TGM1 ATP7A ST14 BLM PROK2 SKIV2L DKC1 DPH1 PYCR1 WRN PKP1 SMARCA4 ALOXE3 RECQL4 NOP10 SPRY4 PSMC3IP IGF1R PCNT MAF SPINK5 TERC TTC37 POLR3A DLX4 ANAPC1 GJB2 OFD1 MED25 FGFR1 TSR2 GJA1 WNT10B KISS1R CTSC ZFPM2 WDR19 PIGL KANK2 NFKBIA PQBP1 TWIST2 DHX37 MAP2K1 TAC3 LAMA3 FGF17 ZBTB20 PPP1CB ERCC2 ANTXR1 ACD AHSG NR0B1 ANOS1 TACR3 VAMP7 GNRHR GTF2H5 ATP6V1A NPM1 EXOSC2 SOX9 KREMEN1 SRA1 EDAR DSP SLC25A24 KAT6B NSD1 TAF1 AR TRPV3 PERP SMARCE1 B4GALT7 SEMA3E RNF113A PDGFRB RPL21 CYP17A1 BCORL1 EDARADD ITGB6 NRAS KRT81 NTRK1 HOXC13 LIPH ATP6V1E1 ATP6V0A2 WDR35 CWC27 CLMP EDA TMCO1 SDR9C7 POC1A BNC1 HSPA9 LAMB3 CACNA1G TBX3 NUP107 MGAT2 CDH1 SNRPE SULT2B1 DUSP6 EPS8L3 NECTIN4 ATRIP ARID1B XYLT1 PARN ATR AXL CKAP2L TERT NSMF GTF2E2 DNAJC21 FEZF1 PROKR2 ESCO2 ITGA3 POLR3H GATAD2B SPIDR EZH2 WT1 ORC6 ERCC6 MDM2 ALX4 KLHL24 SMAD4 MED12 HPD NIPAL4 SMARCC2 EXT2 CYB5A MSX1 SMARCB1 APCDD1 CCBE1 DSC3 SETD2 MBTPS2 NEPRO CHD7 KRT83 RIN2 BRCA1 JUP WRAP53 KRT17 TRAIP MAP2K2 SLC7A7 FMR1 DLL4 KRT85 ADAMTS3 ERCC3 SREBF1 PTPN22 FGF8 PNPLA6 PIK3R1 IKBKG PORCN USB1 EBP LIPN FIG4 APC2 SRY CANT1 TFAP2A DNMT3A MTX2 TTC7A TARS1 BANF1 FSHB EXT1 PCGF2 CST6 HS6ST1 NF1 XRCC4 TRAF6 IFT52 MESD BMP15 FAS DOCK6 FAT4 TCOF1 DOLK CCDC141 HDAC4 ADNP PPP2R3C EDA2R DPF2 PHF6 PRKD1 POP1 MRPS22 STING1 ABCA12 HLA-DRA KISS1 WWOX UBE3B HP_MATERNAL_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_HYPERTENSION CFH HELLPAR CFI NR3C2 NOS3 CD46 HP_PROGRESSIVE_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PES_CAVUS CPT1C KIF5A CAV3 RTN2 ATP13A2 FHL1 SLC33A1 WASHC5 ALDH18A1 HP_PES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_VALGUS CAPN1 REEP1 COL12A1 GDF5 STXBP1 PIGG PUF60 FLNA TCF4 PCDH19 FBN1 TRIP4 RFT1 GABRA1 SYT1 BSCL2 KDELR2 HK1 COL6A2 SCN2A TPM3 WAC WDR19 TRMT10A MYPN SCN1A PPP1R15B LONP1 TPM2 MAP3K7 TOR1A COL6A3 SCN1B GARS1 COL6A1 RAI1 GABRG2 SCN9A HP_EQUINOVARUS_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINOVARUS_DEFORMITY HADHA FARS2 SLC26A2 HADHB TBC1D24 VPS13A ATRX HP_DEFORMED_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_TARSAL_BONES ATP6AP2 TPM2 HOXD10 GDF5 COL1A2 ZEB2 ECEL1 ADAMTSL1 KANSL1 PHGDH TNNI2 EZH2 HP_EQUINUS_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINUS_CALCANEUS SYT1 HADHA AEBP1 HADHB HOXD10 HP_PERIODIC_HYPOKALEMIC_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_HYPOKALEMIC_PARESIS SCN4A SLC4A1 CACNA1S GABRA3 KCNJ18 CA2 KCNJ2 CDH23 KCNE3 HP_DECREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL PCSK1 MRAP TRAF7 CYP11A1 TERT AKT1 HSD3B2 TBX19 ABCC8 NF2 GLI3 SMARCE1 PDGFB STAR POR NNT NR0B1 CYP17A1 BAP1 MC2R KCNJ11 ABCD1 TXNRD2 SUFU PIK3CA AAAS GATB GATC NFKB2 CYP11B1 QRSL1 SMARCB1 SMO HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION PEX6 PEX11B PEX2 PEX12 PEX5 PEX1 PEX10 PEX26 PEX16 PEX19 PEX13 PEX3 ABCD1 ACBD5 PNPLA2 PEX14 HP_MILDLY_ELEVATED_CREATINE_KINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILDLY_ELEVATED_CREATINE_KINASE MATR3 KLHL41 TPM3 KCNE3 MYL2 ITGA7 TRIP4 ACTA1 GABRA3 COL12A1 COL6A1 COL6A2 MT-TN HNRNPA1 SQSTM1 VCP GNE MTMR14 POLG COL6A3 SLC52A2 HADH MYH7 MPV17 MT-TL1 FKTN CHCHD10 MAP3K20 COL9A3 DOK7 TIA1 MT-TL2 FLNC TFG CACNA1S DNM2 GFPT1 MYPN ADSS1 FKRP KCNJ18 SELENON NEB PLEKHG5 POMT1 ALG2 TPM2 KBTBD13 MYF6 HACD1 TRMU RYR1 BIN1 MT-TE TTN SCN4A MYH14 MICU1 TWNK MSTO1 PEX6 CRPPA LMNA HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS HESX1 WT1 LHX4 CYP11A1 HSD3B2 SPRY4 PROP1 POLA1 SOX9 HS6ST1 NR5A1 WDR11 DUSP6 SRY GATA4 LEP CYP17A1 FGF8 CYB5A POU1F1 FGFR1 SOX3 NSMF FOXA2 KISS1R ZFPM2 CHD7 ANOS1 PROKR2 GLI2 POR DHX37 GNRH1 TAC3 LEPR FGF17 OTX2 PROK2 NR0B1 MAP3K1 TACR3 VAMP7 KISS1 DMRT3 GNRHR WWOX ESR1 HP_THYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_DYSGENESIS NKX2-1 KAT6B GLI3 LIFR NKX2-5 PAX8 HP_THYROID_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_AGENESIS NKX2-5 KAT6B TSHR SLC26A4 FOXE1 PAX8 NKX2-1 HP_PRIMARY_GONADAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_GONADAL_INSUFFICIENCY DHX37 GATA4 XRCC4 EIF2B2 CYP17A1 WT1 EIF2B4 WFS1 EIF2B1 SOX9 NR5A1 ZFPM2 CYB5A SRY NR0B1 NSMCE2 MAP3K1 EIF2B5 VAMP7 DMRT3 EIF2B3 WWOX HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT MAGEL2 NSMF SPRY4 KISS1R HS6ST1 CHD7 ANOS1 PROKR2 WDR11 DUSP6 TACR3 NR0B1 FGF8 GNRH1 SIM1 TAC3 DCHS1 ZMPSTE24 DHX37 FGF17 PROK2 FAT4 KISS1 FGFR1 GNRHR LMNA ESR1 HP_PRIMARY_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERPARATHYROIDISM CDC73 MEN1 GCM2 CASR CDKN2C GNA11 CDKN1B CDKN1A CDKN2B AP2S1 HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION GNAS BAP1 TRAF7 TERT SUFU AKT1 RBM28 PIK3CA NF2 PROP1 SMARCE1 SMARCB1 PDGFB SMO HP_PRIMARY_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_ADRENAL_INSUFFICIENCY PEX11B PEX14 PEX12 TRAF7 CYP11A1 TERT HSD3B2 GLI3 HSD11B2 PEX16 PEX5 PEX26 NF2 SMARCE1 AIRE PEX13 PDGFB STAR CYP11B2 PEX10 NR0B1 CYP17A1 KCNJ11 ABCD1 TXNRD2 TBX19 PEX19 AAAS GATC PEX6 KANSL1 CYP11B1 QRSL1 PCSK1 MRAP PEX2 NR3C1 AKT1 PEX1 ABCC8 POR NNT PEX3 BAP1 MC2R SUFU SCNN1B PIK3CA GATB MRPS7 NFKB2 SMARCB1 NR3C2 SMO TCTN3 HSD17B4 HP_PARATHYROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_HYPERPLASIA CDKN1B MEN1 RET CDKN2C KL CDKN1A TSC1 CDKN2B TSC2 HP_PREMATURE_OVARIAN_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_OVARIAN_INSUFFICIENCY GALT BNC1 PMM2 AARS2 FMR1 NUP107 NBN FSHR FOXL2 EIF2B1 PSMC3IP NPHP1 INVS STAG3 TWNK BMP15 LARS2 POLG CASP10 CEP164 RCBTB1 NOBOX TRAF3IP1 CDH23 FAS EIF2B2 HFM1 EIF2B4 NPHP4 FIGLA ANAPC1 WDR19 DIAPH2 NR5A1 EIF2B3 TTI2 MCM3AP USP8 RASGRP1 LMNA CEP290 AIRE XRCC2 DCAF17 MRPS22 EIF2B5 GALK1 THOC6 B4GALNT1 RIN2 MCM8 PRKCD SDCCAG8 NPHP3 IQCB1 BLM POLR3H SPIDR ERAL1 POF1B FASLG HP_GONADOTROPIN_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOTROPIN_DEFICIENCY CHD7 LHX3 SEMA3E POMC PCSK1 GLI3 FGFR1 KISS1R FSHB HP_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPERPLASIA ARMC5 CYP11B1 NR3C1 USP8 HSD3B2 TBC1D24 PDE8B KCNJ5 AIRE PRKACA CYP11B2 POR CDH23 CACNA1D CYP17A1 GNAS PRKAR1A CYP21A2 STAR PDE11A HP_FEMALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_INFERTILITY NME8 SPAG1 ZP2 RSPH1 PGR GAS2L2 RPGR TTC12 GAS8 CFAP300 FOXL2 CYP19A1 DNAH5 TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN FIGLA PANX1 CCDC114 TUBB8 DNAI2 C11orf80 LRRC56 DNAAF1 CCDC103 BTG4 DNAH1 ZMYND10 CFAP221 TLE6 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 LRRC6 DRC1 HUWE1 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 TRIP13 HP_COMPENSATED_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPENSATED_HYPOTHYROIDISM FOXI1 NKX2-1 TANGO2 TREX1 SLC26A4 KCNJ10 TG HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL WT1 CYP11A1 SRY ESR2 HSD3B2 CYP17A1 BNC1 FANCM SOX9 KISS1R NR5A1 ZFPM2 XRCC2 GDF9 DHX37 GATA4 MCM8 CNBP AR CBX2 NSMCE2 FIGLA CYB5A ERCC6 NR0B1 MAP3K1 VAMP7 DMRT3 WWOX PPP2R3C HP_DECREASED_CIRCULATING_PROGESTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_PROGESTERONE POR EIF2B2 EIF2B4 EIF2B5 EIF2B1 EIF2B3 HP_HYPOTHALAMIC_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HYPOTHYROIDISM BAP1 TRAF7 TERT SUFU AKT1 TRH PIK3CA NF2 SMARCE1 SMARCB1 PDGFB SMO HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY MEN1 BAP1 TRAF7 KCNJ11 TERT SUFU AKT1 GLI3 CDH23 PIK3CA ABCC8 NF2 UCP2 SMARCE1 SMARCB1 PDGFB SMO AIP HP_PSEUDOHYPOALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOALDOSTERONISM NR3C2 CUL3 SCNN1B SCNN1G KLHL3 SCNN1A WNK1 WNK4 HP_PITUITARY_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_HYPOTHYROIDISM HESX1 LHX4 TRAF7 CTNNB1 TERT AKT1 GLI3 FOXA2 PROP1 NF2 SMARCE1 BRAF LHX3 PDGFB GLI2 POMC AIP LEP MEN1 BAP1 LEPR SUFU RBM28 PIK3CA OTX2 CDH23 POU3F4 POU1F1 TMEM67 PCSK1 SMARCB1 ARNT2 SMO SOX3 HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS APPL1 ZFP57 EIF2AK3 KCNJ11 GCK HNF1A INS PDX1 KLF11 PAX4 ABCC8 BLK HYMAI CEL PLAGL1 NEUROD1 HNF4A HP_ADRENOCORTICAL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ADENOMA SCN4A CDKN1B MEN1 APC CYP11B1 KCNE3 CYP11B2 CACNA1S HP_CONGENITAL_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ADRENAL_HYPERPLASIA POR CYP17A1 CYP11B1 HSD3B2 STAR HP_PANCREATIC_ISLET_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_ADENOMA CDKN1B MEN1 MAFA CDKN2C CDKN1A VHL CDKN2B HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM RPGR PDE6C CNGA3 OPN1SW KIF3B PDE6H GNAT2 CNGB3 ATF6 HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION SLC7A7 IARS1 COL7A1 MMP1 SLC30A2 SLC39A8 HP_UNCONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONJUGATED_HYPERBILIRUBINEMIA RHAG UGT1A1 CASK G6PD PKLR HBB HP_FASTING_HYPERINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPERINSULINEMIA CDKN1B MEN1 INSR LMNA HADH GLUD1 GCK HP_EXERCISE_INDUCED_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYOGLOBINURIA PHKA1 CRPPA PGK1 PYGM FKRP PFKM ACADVL HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II ISCU SDHA IBA57 MIEF2 SLC39A8 HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE NDUFA11 NDUFS4 NDUFB9 MT-ND5 NDUFAF1 NDUFAF4 MT-TN NDUFS7 TIMMDC1 NDUFAF2 NDUFV1 FOXRED1 NDUFS6 MT-ND6 MT-ND1 MT-TL1 MT-TF NDUFA1 TMEM126B MT-TL2 MT-ND3 NDUFAF5 NDUFS1 MT-TW NDUFS8 NDUFAF3 MT-CO3 NDUFS3 MT-TQ SDHA NDUFAF8 MT-TH NDUFB11 NDUFB3 NDUFB10 MT-ND4 MT-CO1 MT-ND2 NDUFA6 MYH7 NUBPL MT-TS2 NDUFV2 MT-CO2 NDUFS2 AFG3L2 HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION IKZF5 THPO NBEAL2 CALR CISD2 SH2B3 HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY SLC25A3 TARDBP GYG1 SQSTM1 FUS SPG7 FDXR DNA2 PET117 VCP MYH14 MGME1 POLG2 TAZ CHCHD10 C9orf72 TBK1 MFF HSD17B10 MRPS14 HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM PRPH2 AIPL1 PROM1 RHO RGR ADAR MCOLN1 CLRN1 RP9 IDH3B GUCY2D ZNF513 RPE65 PPT1 RP1 RDH5 RLBP1 RPGRIP1 PDE6B SAG ACOX1 CERKL LARGE1 MFRP USP45 CACNA1F IMPDH1 NR2E3 BEST1 ALG3 IDS MT-ATP6 TTC8 NUP62 LRAT POMGNT1 HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE ACAD9 DNA2 RYR1 DPM3 CACNA1S SLC25A20 HP_DISTAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS FN1 CA2 SLC4A1 ATP6V0A4 GATA3 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV TIMM22 COX6A2 MIEF2 PET117 MRPL12 COX5A COX4I1 COA8 EARS2 COA3 MRM2 MRPS14 SLC25A26 SUCLG1 CARS2 MRPS23 GTPBP3 MRPS25 GATC PET100 TSFM QRSL1 NDUFA4 COX20 SLC39A8 HP_DECREASED_CIRCULATING_IGG2_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGG2_LEVEL ADA PIK3CD EPG5 CD247 CTPS1 ATM HP_REDUCED_FACTOR_XIII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XIII_ACTIVITY F13B MAP2K1 BRAF F13A1 PTPN11 HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX SALL4 PUF60 DOCK3 CHSY1 DDX6 RLIM HOXA13 CTBP1 BPTF BMPR1B IHH ABCC9 GPC4 KAT6A NELFA LETM1 ACVR1 MGP FGFRL1 KMT2E MYT1L PTHLH GJA1 FLNA HOXD13 PSMD12 TRMT1 ACTL6B BHLHA9 FGFR1 VAC14 FGFR2 BCORL1 FBXW11 CPLX1 NOG SVBP GLI3 MED13 FIG4 CHST11 BMP2 NTNG1 TCF20 GDF5 NSD2 ACTL6A KCNJ8 TANC2 WDFY3 ZMIZ1 TRAPPC4 HP_ABNORMALITY_OF_THE_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALCANEUS DYM SATB2 ATP6AP2 COL2A1 HDAC6 RSPRY1 SYT1 ZEB2 GFM2 AEBP1 PHGDH TNNI2 COL1A2 MEG3 FLNA HADHA LBR TPM2 HADHB RTL1 HOXD10 FLNB ECEL1 ADAMTSL1 KANSL1 DLK1 EZH2 OBSL1 HP_ABNORMALITY_OF_THE_TALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TALUS TELO2 RBM10 CHRNG TNNI2 PUF60 MYBPC1 SMPD4 RSPRY1 PSAT1 SCYL2 MYH3 ERCC6 OBSL1 DOK7 LMNA POR MUSK TPM2 HOXD10 PHEX TOR1A SLC2A10 GLE1 PLAA NUP88 VAC14 SLC29A3 KIF14 SAMD9 RELN NUP188 ZMPSTE24 FIG4 FLNA CCDC8 EXOC7 TNNT3 EMG1 PHGDH ZC4H2 ARID1B FGFR2 CUL7 ERCC1 MAF MAGEL2 CLTCL1 ERCC5 NALCN PEX1 ADAT3 WRN ERCC2 HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET BRF1 CHRNG FLNA PLEC PPP2R5D MYBPC1 ABHD12 FKRP LIFR FGFR3 ERCC4 DDHD2 COL6A2 SCARF2 TMEM43 COL12A1 HSPG2 CAV1 CCR6 KIAA0319L MYH3 NGLY1 PIGN GLI3 BCOR IRF5 LMNA FHL1 PIEZO2 CCN2 AMER1 ERCC6 PTRH2 ACTA1 HINT1 MMP2 FKTN GJB1 EMD HRAS SLC29A3 ALS2 NOD2 PSMB8 NT5C2 SYNE2 PHF6 SGCA POMT1 ZC4H2 ERCC8 BICD2 TTN SGCG NSUN2 ERCC1 LARGE1 ERLIN2 KCNK9 SYNE1 MT-TE HLA-DRB1 KY OPA1 MYOT ADAT3 CRPPA HP_ABNORMAL_TARSAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TARSAL_OSSIFICATION SLC35D1 PTH1R INPPL1 MATN3 CANT1 EIF2AK3 EBP COL2A1 HOXA13 HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM MST1 CYP7A1 MTTP SBDS DZIP1L TCF4 EFL1 GPR35 DNAJC21 PKHD1 FARSB BCO1 SRP54 HP_PUBERTY_AND_GONADAL_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUBERTY_AND_GONADAL_DISORDERS RHO KDM6A CLIP2 LRP5 NFIX CYP11A1 ANOS1 WFS1 FSHR ERCC3 HESX1 GNRH1 DLL1 LARS2 ATRX BRCA1 KCNA1 XPC DDB2 PROKR2 IFT27 CTNS NR5A1 PREPL KANSL1 PIGQ SAG NODAL IL17RD SIK1 MAGEL2 POLR3B FEZF1 HDAC8 IFT140 CTNNB1 SNRPN ROBO1 SLC29A3 IGFALS DHH NSD2 DHCR7 FANCM B4GALNT1 HYMAI PPM1B ACTL6A C8orf37 NDN BSCL2 TANGO2 PHKA2 RP1 PDE4D LHB TBL2 LHX4 BRCC3 MT-ND5 AHI1 PROP1 G6PC DEAF1 TWNK XRCC2 SOS1 WDR11 HSD11B1 MEN1 HERC2 MT-ND6 ERCC5 CARS1 BRAF FGF8 ERCC1 ERCC8 RAB3GAP2 LIMK1 ZNF513 AKT1 BCS1L MSL3 SCN1B MT-TL1 PNPLA6 PCARE PTPN11 NNT DCAF17 POLG GLI2 PROK2 STEAP3 GMNN ATAD3A KISS1R NPAP1 SIL1 RAD51 DMPK SMC3 POF1B SNORD116-1 CHD7 CHRNG WRN TBC1D20 CENPT PSMC3IP DHX37 DCC CISD2 AIP PDE8B PUS1 NEK2 BBS5 SIX6 SEMA3A NR0B1 KMT2E FANCD2 IFT88 MKRN3 SNORD115-1 ANAPC1 KISS1 RTL1 MT-TF PDE11A POLD1 SMCHD1 RGR CTDP1 PTCH1 IMPDH1 IFT172 GLA ZFPM2 ALX4 ABCD1 RPL10 RAB23 BBS9 ZBTB20 TP63 EHMT1 LZTFL1 TACR3 NONO DNM1L RAB3GAP1 NF2 COL7A1 HACE1 OCA2 USH2A FGF17 AGBL5 LEPR ARHGEF18 TXNRD2 FANCC KMT2D DDX3X PSMD12 RRAS DLK1 BMP4 PRKAR1A CDON NECTIN1 ELN NPHP1 FOS MT-TW RIT1 ITGB6 ANTXR1 SOX9 SCARB2 RBP3 CA4 ERCC4 MAD2L2 ZIC2 AMACR TTC8 SHH WDFY3 MAP3K1 ZMPSTE24 RERE SLC12A3 MRE11 LMNA STK11 INSR SMPD1 SLC7A14 TBX3 NUP107 PTDSS1 SNRNP200 TOPORS RRAS2 STAT1 HBB USP9X SEMA4A MYT1L LHCGR IDH3A CDH23 SLX4 POLR3A ERCC6 TRMT1 AXL ACTL6B WT1 PLAGL1 BBS1 GNAS CYP11B1 AR BBS2 SOX6 HAMP MED13 GTF2IRD1 H6PD PDE6A RFC2 PALB2 SIX3 RBM28 ANK1 CYP21A2 TGFB1 MT-TS2 SEMA3E HRAS SOX3 TYMP ESR1 KLHL7 GALT PMM2 GPR161 ALDOA HSD3B2 LRAT DDX6 SLC37A4 MDM2 FLI1 PDGFB GHR SOX2 PTRH2 CYP19A1 POLE FANCE CAVIN1 NSMCE2 SMAD4 NEUROD2 SOX10 RIN2 HS6ST1 INPP5K LPIN2 CBL AHR MAK ZMIZ1 BMPR1B SMO PEX6 FMR1 FANCA MAB21L2 NDP CUL4B NRAS CYP17A1 EIF2B4 MMP2 ENTPD1 FSHB ERCC2 TRIM8 STUB1 NR3C1 DHX38 SVBP DUSP6 CCDC28B MT-TQ NIPBL GALK1 POR RLBP1 CNGA1 NR2E3 PRDM16 IFT74 TDGF1 RAI1 AGPAT2 FANCF XRCC4 MMP14 REEP6 PLXND1 PHGDH RLIM STS GLI3 IDH3B EP300 RNF216 IER3IP1 DACT1 BEST1 RNU4ATAC CDKN1C ATM PRPF31 HJV CASK RRM2B MERTK BAZ1B MRAP ARX POLR1C ROM1 FANCL PHF6 SDCCAG8 PRPF8 POMC CLPP TSC2 PSAT1 TRAPPC4 DHDDS PPARG POLA1 SMARCE1 EYS TRMT10A RP2 RPGR PRPF4 BBS12 PDE6B MT-ND1 MLXIPL DMXL2 BBS4 HFE TAF13 FBXW11 CPLX1 OCRL NRL GBA GTF2I NTN1 MRPS22 FANCB SLC25A13 MT-CO1 FGFR1 LSS PTCH2 MRPS7 SCP2 SMARCB1 DMRT3 SLC3A1 ARL2BP SOS2 TSC1 ALG1 DOCK3 IGF1 POMGNT1 CLRN1 SLC25A22 SMC1A GATA4 EIF2B2 PPP1R15B MAP3K7 PHKG2 PWAR1 EIF2B3 RAB18 CNTNAP2 SALL1 AIRE NTNG1 TCF20 GJB2 RP9 ARL6 ALMS1 MRAS DCHS1 FSCN2 MC2R TAC3 CDKL5 IQSEC2 TRAF7 SPRY4 USP7 BNC1 PCNT PAPSS2 EIF2S3 MAP2K1 KIAA1549 SRY COQ2 CERKL LETM1 MEG3 TP53 STAT3 IFNG TRIM32 BBIP1 MT-CO3 NLRP3 CBX2 SCN2A KCNAB2 SUFU KRAS AHSG LEP GAS1 BBS10 VAMP7 GNRHR RECQL4 NSMF GNAO1 FGD1 BMP15 SRA1 RPE65 SLC35A2 KMT2C CDHR1 NOTCH2 GABRD FOXA2 MMP1 ZNF408 FAM111B PEX1 HGSNAT STXBP1 NDNF UBE2T PHF21A MT-ND4 RAD21 ABCA4 PCSK1 TRAF3IP1 EIF2B1 WDPCP ARSL REV3L RASA2 DNAL4 HSD17B3 FLII CNGB1 DISP1 POU1F1 SGPL1 SCAPER VPS13B TANC2 CNBP KIZ RP1L1 MGME1 BAP1 POLR3H SPIDR PNKP IDH1 NRXN1 A2ML1 FANCI TRIP4 GPR101 CRX FOXH1 RAF1 CAMKMT SETD5 CLCNKB SIM1 SNAP29 RAD51C CYB5A GHSR SKI PROM1 XPA STAT5B BBS7 MSMO1 PGM1 MYH3 MT-TH IMPG2 CCDC141 STAR PDE6G CRB1 TERT PYGL PIGT SPATA7 PRPF3 PRCD PIGP RDH12 NF1 BRIP1 CEP290 TULP1 SAMD9 CAV1 TGIF1 LAS1L SLC39A4 MKKS EIF2B5 PRKACA KMT2A BMP2 PRLR EXT2 PRPH2 ARL3 GUCA1B DMRT1 CTBP1 BPTF BRCA2 PWRN1 TUB FGFRL1 MKS1 FAM161A CREBBP DYRK1A PRPF6 OPA1 BCORL1 FLRT3 LZTR1 RFWD3 FANCG PIK3CA OTX2 OFD1 YARS2 FAT4 IDH2 TFR2 MT-CO2 NR2F2 WWOX WNT4 PTH1R HP_APLASIA_HYPOPLASIA_OF_THE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS RSPO1 ALOX12B KDM1A CLIP2 IFT43 LAMB3 PIGW COL17A1 RPS6KA3 SOX4 PGAP3 NOG CDH1 RNF113A PTDSS1 HOXA13 IFT122 KCNH1 SHANK3 ARID2 ATP6V0A2 PIGV LMNA APC NECTIN4 DOCK6 PIGN KCNA1 RTEL1 CCDC22 ARID1B EOGT KIF15 SUZ12 MLXIPL NOTCH1 PIGQ RIPK4 SMARCAD1 LIG4 PLAGL1 TERT SIK1 FLNB TBC1D24 ITGB4 NSD1 RBPJ GTF2E2 ZNF462 GTF2IRD1 ARID1A GTF2I DNAJC21 MSX1 HYMAI IKBKG BHLHA9 ZMPSTE24 TRRAP COL11A2 RFC2 HEPHL1 EVC COL7A1 PLEC ALG3 GLI1 PNKP GPC3 BCR ROR2 INPPL1 TELO2 TBL2 TP63 LMX1B DPH1 BMPER WNT10A GPC4 WASHC5 COL11A1 SLC25A22 SMARCE1 ARHGAP31 DSP LRP4 SMARCA4 NHP2 ATP6V1B2 LAMC2 SHOC2 MCTP2 EZH2 VAC14 PPM1D LIMK1 FGFR2 PIGL MPLKIP SETD2 MBTPS2 SCN1B NEPRO NEUROD2 KCNN3 FTO CKAP2L GJB6 COL2A1 EVC2 OFD1 ADAMTSL2 DHX37 CTC1 LBR WRAP53 ODC1 NOTCH2 TBX3 CDKL5 DLK1 DKC1 WNT7A NOP10 DLL4 CENPT RSPO4 PIGB ERCC3 DPF2 TERC PGAP2 PIGA SHOX JUP RLIM HRAS PIGP POLR3A GDF5 EED WDR73 ERCC2 TRIM8 PORCN ALOXE3 USB1 SOX11 CRKL FIG4 APC2 ACTL6B SMARCD1 SCN2A MEG3 MAPK1 PIGY PARN RTL1 DYNC2LI1 DMXL2 TFAP2A LAMA3 PPP1CB ACTG2 RERE TARS1 TCTN3 CDIN1 GNAO1 GTF2H5 TINF2 NSUN2 PPP2R5D HMGA2 NPM1 ZBTB20 SLC25A24 TBX4 ELN CASK CPT2 AFF4 PIGO ITGA6 BAZ1B IHH B3GALT6 ARX MMP1 PLAG1 GRHL2 STXBP1 POP1 SMARCC2 SLC35D1 IGF2 CDKN1C CWC27 GJB2 STAMBP SMARCB1 NPR2 FGFR1 POC1A HP_ABNORMAL_TOENAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TOENAIL_MORPHOLOGY KDM1A PEX6 CLIP2 WNT7A DLL4 SOX4 VEGFC AIP TP63 HOXA13 DPF2 NOTCH1 TERC GPC4 SHANK3 IFT122 ARID2 EDARADD SHOX APC NECTIN4 FLT4 HRAS RTEL1 EOGT GDF5 WNT10A EED SUZ12 PLCD1 PORCN WDR35 LIG4 TERT USB1 SCN9A RAB3GAP2 NOG SOX11 IFT43 CRKL TBC1D24 RBPJ RAB7A GTF2IRD1 ARID1A WDR19 IL17RC GTF2I ITGB4 EVC MSX1 SMARCD1 EDAR IKBKG BHLHA9 MAPK1 RIPK4 RFC2 PARN DYNC2LI1 ZMPSTE24 COL7A1 PPP1CB KIF11 GLI1 KCNH1 RAB3GAP1 KRT14 KRT74 FERMT1 TCTN3 BCR INPPL1 RUNX2 TELO2 ZSWIM6 TINF2 TBL2 NSUN2 LMX1B PPP2R5D NPM1 DPH1 IL17RA KLHL24 GPR101 WNK1 COL11A1 ODC1 SMARCE1 IFT52 ARHGAP31 LRP4 DOCK6 TAF1 IL17F ARID1B SMARCA4 ATP6V1B2 TBX4 CPT2 AFF4 SHOC2 BMP2 EZH2 GJB6 BAZ1B LIMK1 NECTIN1 ELN NSD1 NOP10 GJC2 PEX1 GJB2 RETREG1 EVC2 KCNN3 CKAP2L SMARCC2 SLC35D1 CLEC7A CTC1 LBR WRAP53 COL17A1 SOX18 TBX3 NHP2 CSTB SMARCB1 UMPS TRAF3IP2 FGFR1 DKC1 KIF1A LMNA HP_DYSTROPHIC_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_FINGERNAILS GTF2H5 RUNX2 NECTIN1 SCN9A MPLKIP GTF2E2 ERCC3 RNF113A ITGB4 WNK1 PKP1 RETREG1 COL7A1 GJA1 KRAS MAP2K1 COL17A1 GJB2 ZMPSTE24 ZBTB20 WNT10A STAT3 ERCC2 KRT14 TARS1 KRT74 BRAF MBTPS2 KIF1A MAP2K2 TP63 GJB6 LMNA HP_SUBUNGUAL_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBUNGUAL_HYPERKERATOSIS CARD14 MBTPS2 KRT17 TRPV3 SLURP1 HP_ONYCHOGRYPOSIS_OF_TOENAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS_OF_TOENAILS KRT6A PLEC COL7A1 KRT16 KRT17 KRT6B HP_RIDGED_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_FINGERNAIL SLC39A4 EFNB1 DVL3 TINF2 DVL1 MSX1 WNT5A IKBKG FZD2 HP_NAIL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSTROPHY RSPO1 CD28 LAMB3 COL17A1 RNF113A DSP TINF2 RTEL1 KIF15 PARN KRT5 TERT COL7A1 ITGB4 LORICRIN GTF2E2 KRT6B DNAJC21 PKP1 GSN IKBKG LAMA3 KRT14 ITGA3 PLEC STAT3 GJB2 DST KRT74 NFKB2 ACD KLHL24 KDF1 WNK1 CTLA4 FOXN1 NHP2 LAMC2 KRT86 ATL1 TP63 MPLKIP MBTPS2 AIRE KRT83 ATP6V1B2 UBE2A GJB6 EVC2 CTC1 ABCA1 JUP WRAP53 NLRP1 KRT17 KRT1 TGM1 DKC1 MAP2K2 NOP10 KRT85 ERCC3 MAF SREBF1 NOTCH1 TERC MVK PQBP1 KRAS WNT10A ANAPC1 ERCC2 BRAF PORCN CSTA USB1 SCN9A RAB7A CTSC CD151 EVC KRT16 IL36RN GJA1 TNFRSF1B MAP2K1 ZMPSTE24 ZBTB20 AP1S3 MTX2 TTC7A TARS1 MMP1 DSG1 RECQL4 GTF2H5 RUNX2 KRT6A NPM1 FOXP3 POMP TRPV3 SMARCE1 ITGA6 NECTIN1 GRHL2 RETREG1 KRT81 NTRK1 HOXC13 STING1 FLNA SASH1 KIF1A LMNA HP_VERTEBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_HYPOPLASIA SLC26A2 VANGL1 INPPL1 GLB1 DDRGK1 TCIRG1 RPS19 ACVR1 NSDHL TNFRSF11A COL11A1 SIX6 SLC35D1 PDE4D KIAA0586 PRKAR1A SOX9 LBR RINT1 SLC29A3 POLR3A SOX2 FLNB TRPV4 FUZ NOTCH2 SUMF1 CSPP1 HP_VERTEBRAL_WEDGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_WEDGING MBTPS2 SEC23A PTCH1 SUFU IFITM5 COL2A1 FKBP10 BGN PTCH2 NPR2 ARSB IFT43 HP_VERTEBRAL_CLEFTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_CLEFTING ALPL HSPA9 CHRNG SLC26A2 COL2A1 MESP2 STAG2 TBX6 FLNB HSPG2 RIPPLY2 PEX7 COG1 TRIP11 SC5D SOX5 ALG12 SIX6 KDM6A CHST3 SLC10A7 COL11A2 RAD21 SOX2 LONP1 FOXF1 KMT2D HAAO CSGALNACT1 HP_VERTEBRAL_ARCH_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_ARCH_ANOMALY RNU4ATAC PDE4D PRKAR1A KIF22 ANKRD11 RMRP DDRGK1 TONSL GNPTAB NPR2 SMAD4 LTBP3 JAG1 CHST3 HP_C1_C2_VERTEBRAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_C1_C2_VERTEBRAL_ABNORMALITY MADD IDUA MMP2 SKI COL2A1 DDR2 HP_SPINAL_DEFORMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_DEFORMITIES MYO9A VAMP1 SNAP25 COL13A1 POMT2 POMT1 SNX14 MGME1 SYT2 GMPPB CHAT SLC25A1 GDAP1 GNE LARGE1 SLC5A7 FKRP SLC18A3 AGRN HP_CERVICAL_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SPINAL_CANAL_STENOSIS EXTL3 KIAA0586 PHF6 IARS2 KANSL1 CSPP1 FGFR3 HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE DDRGK1 PDE4D TONSL PRKAR1A KIF22 GNPTAB NPR2 RMRP LTBP3 CHST3 HP_HYPOPLASTIC_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_VERTEBRAL_BODIES SLC35D1 PDE4D KIAA0586 VANGL1 INPPL1 PRKAR1A GLB1 LBR RINT1 SLC29A3 POLR3A TCIRG1 ACVR1 FUZ TNFRSF11A SUMF1 CSPP1 HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS TBXT CCL2 VANGL2 FUZ VANGL1 HP_INFERIOR_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_LENS_SUBLUXATION BAP1 GNAQ CYSLTR2 SF3B1 GNA11 HP_MULTIPLE_ROWS_OF_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ROWS_OF_EYELASHES CTNND1 YARS2 HSPG2 CDH1 PUS1 TWIST2 FOXC2 HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS PDE4D SLC25A24 ALX4 MSX2 PRKAR1A HP_HIGH_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_HYPERMETROPIA CLIP2 USH1G TBL2 LCA5 CRB1 TGM5 USH1C RMRP IFT122 TUBB4B PRSS56 CSTA IFT52 RAI1 GJA1 OGT PCDH15 SKI WDR35 CLRN1 MFRP MED25 BEST1 BAZ1B MT-TS2 LIMK1 ELN IFT43 MYO7A GABRD CEP78 GTF2IRD1 WDR19 FGF3 GTF2I RPGRIP1 SMAD4 CIB2 KCNAB2 PRDM16 RFC2 HARS1 PCYT1A ARSG CDH23 ESPN RERE TMEM98 HP_MEDIAN_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP_AND_PALATE HESX1 LHX4 FOXA2 PROP1 FZD2 OTX2 PTCH1 SIX3 DVL3 POU1F1 DVL1 SLC2A10 WNT5A FAM20C GLI2 TGIF1 HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT MID2 ARHGEF6 ZNF41 RPS6KA3 AGTR2 ZNF711 MED12 PTCHD1 DMD UPF3B ZNF81 TSPAN7 RAB39B GDI1 ACSL4 PAK3 CNKSR2 IL1RAPL1 SLC9A7 USP9X FRMPD4 FTSJ1 PNPLA8 IQSEC2 HCFC1 SYP USP27X ARX MECP2 DLG3 CLCN4 CXorf56 ALG13 HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM ROR2 VANGL1 WNT7A CCL2 MNX1 TBXT FUZ ZIC3 FUCA1 PTH1R RPS19 VANGL2 HAAO FANCB POC1A HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN ROR2 IDUA VANGL1 INPPL1 WNT7A TRAPPC2 FUZ COL2A1 DYM FGD1 DDRGK1 TCIRG1 GNPTAB GLB1 COL11A1 SIX6 COMP EXTL3 SOX9 RINT1 MNX1 SOX2 SLC26A2 RMRP FLNB TBXT COG4 GUSB TRPV4 HAAO NOTCH2 SUMF1 CSPP1 PRKAR1A GALNS CCL2 NOG EIF2AK3 BGN RPS19 VANGL2 ACVR1 NSDHL TNFRSF11A FANCB SLC35D1 PDE4D KIAA0586 NFIX LBR SLC29A3 FN1 POLR3A AIFM1 ZIC3 LONP1 FUCA1 PTH1R ARSB RAB33B POC1A DDR2 LFNG HP_ABNORMAL_COCCYX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_COCCYX_MORPHOLOGY COLEC11 MASP1 TAF1 TRPV4 COLEC10 SH3PXD2B FAT4 DCHS1 TBX15 HP_POSTERIOR_HELIX_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_HELIX_PIT CDKN1C GPC4 KCNQ1 KCNQ1OT1 EP300 IGF2 GPC3 HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT PRPH2 RHO USH1C NSMF PCDH15 RAC1 SPRY4 WFS1 KISS1R IGF1 ESRP1 HS6ST1 CHD7 LRTOMT RDH5 RLBP1 ROR1 ANOS1 PROKR2 MAP3K7 WDR11 KCNJ10 KCNQ1 DUSP6 CLPP FOXI1 ADGRV1 PDZD7 PAX3 FGF8 GNRH1 USH2A TAC3 MITF KYNU FGF17 PROK2 KCNE1 SLC26A4 TACR3 KISS1 SNAI2 FGFR1 GNRHR PRPS1 HP_ABNORMALLY_FOLDED_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_FOLDED_HELIX TWIST1 AMMECR1 PIGN TBX1 GNB1 PIGB NARS1 HSPG2 GP1BB CHD7 ARVCF DACT1 PIGA SLC6A8 COMT BCOR SMC1A UFD1 PYCR2 BHLHA9 AMER1 CPT2 ACTB CREBBP CSPP1 PPP2R3C PLCB4 DDX6 SEC24C EFTUD2 GNAI3 TASP1 ZNF462 SALL1 FOXP2 PIGL KANSL1 TBX2 NAA10 RREB1 SLC26A2 KIAA0586 BCL11A NFIX FGFR2 SLC16A2 TFAP2A MED12 LONP1 HIRA JMJD1C SEMA3E VPS51 FBN2 EBF3 PPP1CB CLIC2 HP_COCHLEAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COCHLEAR_MALFORMATION FOXI1 SLC26A4 KCNJ10 COL4A6 EYA1 ORC1 SIX1 HP_EXTERNAL_EAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_EAR_MALFORMATION PEX11B KIF1A SIX5 BCOR ADAMTS3 PLCB4 PEX5 FANCI PEX26 IGHM PEX12 MAFB TP63 DSE XRCC2 CHD7 FGFR3 PEX13 FGFR2 TWIST1 BRCA1 BRCA2 DACT1 FGD1 TCF3 FAT4 FANCD2 GJA1 PEX19 FANCC CHN1 RAD51C ZNHIT3 SLX4 EYA1 PEX6 IGLL1 BRIP1 BLNK FANCB LRRC8A ERF PEX2 GATA4 CCBE1 FREM2 SALL1 FANCL FANCE FANCM UBE2T RFWD3 EDN1 GNAI3 PIK3R1 PURA NAA10 FANCG PEX10 TBCE FANCA CD79B ESCO2 PEX1 PALB2 MAD2L2 GRIP1 PEX3 ANK1 CTH CHST14 PEX16 CD79A MAPRE2 SEMA3E ERCC4 RAD51 SALL4 TUBB FRAS1 PEX14 FANCF SIX1 HP_HYPOPLASTIC_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HELICES PAH FOXP1 HOXA2 GNAI3 PBX1 TFAP2A FRAS1 PLCB4 HP_PROMINENT_ANTITRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_ANTITRAGUS CHST3 PIGK RAB3GAP2 B3GAT3 KAT6A HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR SIX5 NOG COL1A1 ENPP1 SETD2 NOTCH3 POU3F4 AIRE DDR2 EYA1 APC2 PSMD12 SIX1 SETBP1 ABCC6 GJB6 EFTUD2 NSD1 COL1A2 GJB2 TFAP2A IDS RAI1 GDF6 BPTF FRAS1 HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT DGUOK GJB6 ERCC8 DKK1 ERCC6 HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT TARDBP GTF2H5 SQSTM1 SLC12A2 ATP6V0A4 ARSA IGF1 CD109 MT-TC MT-TS2 ERCC3 RNF113A MT-CYB TWNK MT-TL1 GP1BA GP1BB NARS2 MT-CO3 TBK1 CATSPER2 LOXHD1 DNAJC3 CHCHD10 ACOX1 ITGB3 IARS2 PSAP MITF FUS VCP POU3F4 MT-TV POGZ MT-TQ KCNE1 KCNQ1 MT-TF TBC1D24 MPLKIP DNAJC19 GTF2E2 CHSY1 ACTG1 MT-CO2 LHFPL5 MT-TW MT-ND1 C9orf72 RTTN POLG MT-ND5 ITGA2 MT-CO1 DCAF17 ERCC2 MYH14 TUBB3 MT-ND6 MT-TK ITGA2B ADAMTSL1 COA8 TARS1 MYO7A GRXCR2 MARS2 STRC DSPP MYO6 HP_ABNORMALITY_OF_THE_STAPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_STAPES NOG COL1A2 COL1A1 ENPP1 GJB2 POU3F4 PSMD12 IDS SETBP1 GDF6 ABCC6 GJB6 BPTF HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE AR WNT4 WNT3 DCAF17 DHH HP_URETHRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STENOSIS USB1 BAZ1B CLIP2 LIMK1 ELN TINF2 TBL2 ITGB4 NPM1 FLNA MMP1 BNC2 GTF2IRD1 NOP10 GTF2I COL7A1 LAMA3 LAMB3 TERC CTC1 RFC2 WRAP53 PARN MKKS RTEL1 ITGA6 TERT NHP2 TP63 RIN2 PLEC MAP3K7 MLXIPL LAMC2 CDC45 DKC1 FLT4 TBX1 FERMT1 POLA1 HP_ABNORMAL_SPERMATOGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERMATOGENESIS TEX15 RBMY1A1 DNAH17 SPRY4 CATSPER2 ATM SOHLH1 NR5A1 CATSPER1 NANOS1 ZMYND15 VCY ALMS1 STAR DUSP6 BRCA1 NR0B1 FGF8 FANCD2 RPS4Y2 SYCP2 LHCGR SYCE1 DAZ1 STRC FSHB DZIP1 SLX4 M1AP HFE CFAP65 BRIP1 DAZ2 FGFR1 CEP19 FANCB SLC29A3 NR3C1 OCRL NSMF AR KISS1R TSPY1 DNAH9 FANCM GBA SPINK2 ZFPM2 SRY TAF4B PRY2 PROKR2 CFTR DAZ3 DHX37 PALB2 CNBP PRY TAC3 BMP2 ARMC2 ANK1 PMFBP1 FGF17 DCAF17 ERCC4 SCP2 XRCC2 ANOS1 TACR3 TEX11 VAMP7 DMRT3 GNRHR BLM FANCF KDM5D SUN5 WT1 LHB BRCC3 SOX9 HS6ST1 FANCI SYCP3 MEIOB WDR11 BRCA2 ADGRG2 GATA4 TXNRD2 TEX14 FANCC HJV RAD51C USP9Y DDX3Y MRAP FANCL FANCE CHD7 ANTXR1 TDRD9 UBE2T RFWD3 CDY1 FANCG NNT HSFY1 CFAP70 FANCA MCM8 STEAP3 GNRH1 MAD2L2 KLHL10 RAD51 PROK2 MC2R DAZ4 MAP3K1 SEMA3A KISS1 CDY2A WWOX BPY2 POC1A HP_RENAL_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA_APLASIA WDR35 CLIP2 HSPA9 SALL4 ANOS1 PUF60 SOX4 SURF1 GLI3 FANCE ERCC6 HNF1B TBX1 ATRX PRMT7 SF3B4 COX14 PPP1R15B MKS1 ARID2 CEP120 BRCA1 KDM6A TTC37 FGF17 FANCI TSR2 APC SIX3 COG6 CEP152 GDF6 PROKR2 NOTCH2 UFD1 FLII ARID1B SLX4 MFSD2A MLXIPL RAD21 FREM1 COPB2 IL17RD FEZF1 RAI1 LEMD3 FANCB KIF7 PIEZO2 KIF14 SEC24C TNXB TBC1D24 DISP1 ITGA8 INTU FAM149B1 GTF2IRD1 PAX2 RPS19 KCTD1 GTF2I DHCR7 NSDHL FANCM ADA2 NAA10 RREB1 THOC6 RNU4ATAC CPLANE1 TRRAP RIPK4 RPL35 RPL15 RFC2 PALB2 WDR19 FANCC EVC NODAL RPL31 HIRA PDE6D NFIA GLI1 SEMA3E KYNU OFD1 GATA3 FRAS1 DYRK1A B3GLCT TGIF1 FGF10 SIX5 TBL2 KNL1 PIK3CD TFAP2A INSL3 MAP11 PIK3CA DEAF1 FGF20 SASS6 EYA1 KIAA0753 GLI2 MDM2 CEP55 WNT4 LHX1 ATN1 XRCC2 GP1BB GAS1 SMARCE1 GATA1 RFWD3 FGF8 HESX1 RPL26 FREM2 CHD7 DYNC2H1 LRP4 SON TXNL4A RET SMARCA4 MYOD1 RAD51C DYNC2I2 FANCL NF1 REN HAAO FAT4 SKIV2L LIMK1 SETD2 MCPH1 SALL1 MBTPS2 IQSEC2 PTPN11 PHGDH NDUFS2 RARB PTCH1 PRKAR1A FGFR3 NADSYN1 GRIP1 CTU2 ROBO2 DCHS1 ZIC3 TBX3 HS6ST1 RPS15A JMJD1C DHCR24 RAD51 CCDC141 FUZ CEP135 SIX1 RPL27 VANGL1 SH2B1 WDR62 ZIC2 SHH BCOR DLL4 CEP63 FGFR2 FGFR1 DCC NIPBL TP63 FANCA NCAPD3 MEOX1 DPF2 GDF3 NCAPG2 SEMA3A TMEM216 FANCD2 ALDH18A1 COMT PYCR2 WNT3 PHC1 MKKS GPKOW HMGA2 RPS17 GREB1L RPL11 ASPM BRIP1 CD96 JAG1 NDUFAF3 SOX11 STIL CDK6 APC2 METTL5 MUC1 ARL6 DLL1 ANKLE2 SMARCD1 PQBP1 RPL35A WDR11 SDCCAG8 RPS10 RPS7 DYNC2LI1 ERCC4 CENPF DYNC2I1 FANCF CENPJ SUFU NSMF TCTN3 CIT ARX LMBRD1 STS XRCC4 CDC42 ERCC8 PAX1 ARVCF RPS24 BRCA2 DACT1 HOXD13 SOX10 NDUFB8 NSD1 RPS26 RPS28 ELN KMT2D CDON TACR3 TDGF1 RPS29 ARID1A RPL18 GEMIN4 PPP2R1A BMP4 PPP2R3C BAZ1B FLRT3 DUSP6 TAF13 SPRY4 PBX1 IFT80 FOXH1 STRA6 NDNF UBE2T EVC2 MCM5 PROK2 CCNQ SMARCC2 RPL5 FANCG TBX18 CDK5RAP2 RTTN RMND1 MAD2L2 PORCN RPS27 KNSTRN FBXW11 SMARCB1 KISS1R HNF4A PIK3C2A SCO2 HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS LAMC2 SLC22A12 CPT2 LAMA3 LAMB3 HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS SOHLH1 TP63 BNC1 IRF6 B3GLCT WNT7A CYP11A1 NUP107 HCCS SPRY4 GLI3 NIN FSHR FOXL2 PSMC3IP HS6ST1 GNRH1 BMP15 LARS2 HNF1B CTBP1 MYRF WDR11 RBM8A DUSP6 CYP17A1 FGFRL1 FGF8 LETM1 NR5A1 ARID1B DHX37 FIGLA KISS1 CYB5A ESR1 FGFR1 PPP2R1A CPLX1 CYP11B1 NSMF DHH KISS1R COX7B TOE1 CHD7 STRA6 WNT4 NSD2 NDUFB11 ANOS1 DCAF17 MRPS22 PROKR2 CLPP TAC3 FGF17 AR POLR3H PROK2 SPIDR ERAL1 BMPR1B GATA3 TACR3 GNRHR HP_BILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CRYPTORCHIDISM C2CD3 TWIST1 KIF7 COLEC10 DNAJC19 AMH FAM149B1 KIAA0753 ATP6V1A ZBTB20 ODC1 LSS MCM5 CPLANE1 COLEC11 TMEM216 WDR37 AMHR2 MASP1 POLE TCTN3 PDE6D ATP6V1E1 FDFT1 CYP11B1 OFD1 FARS2 SRY RIPK4 NONO HP_RENAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HAMARTOMA TSC1 CDKN1B CDC73 DIS3L2 IFNG TSC2 MVK HP_TESTICULAR_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_DYSGENESIS NR0B1 NR5A1 DHH WT1 DHX37 TSPYL1 DMRT1 SRY CBX2 GATA4 SOX9 MAP3K1 HP_URETHROVAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHROVAGINAL_FISTULA WDR35 DYNC2H1 UBR1 DYNC2I1 IFT80 DYNC2I2 HP_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_VAGINA DHX37 GATA4 IRF6 B3GLCT CYP17A1 WT1 CYP11B1 SOX9 NR5A1 ZFPM2 CYB5A SRY NR0B1 MAP3K1 VAMP7 DMRT3 WWOX POR HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE DHX37 GATA4 CYP17A1 WT1 CYP11A1 AR HSD3B2 SOX9 NR5A1 HSD17B3 ZFPM2 CYB5A SRY NR0B1 MAP3K1 VAMP7 DMRT3 WWOX POR HP_DECREASED_TESTICULAR_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_TESTICULAR_SIZE RSPO1 CYP11A1 ANOS1 GLI3 PQBP1 PROP1 POLA1 NR5A1 NANOS1 GNRH1 ATRX MAP3K7 ZMYND15 ALMS1 DUSP6 FGF17 PHF8 XPC DDB2 PROKR2 LHCGR THOC2 RBMY1A1 TEX15 ARX POU1F1 AXL IL17RD FEZF1 MAGEL2 TBC1D20 CYP11B1 NSMF RPL10 SNRPN SLC29A3 TSPY1 HSPG2 WDR11 NDN XRCC2 TEX11 DMRT3 SOX3 KDM5C WT1 LHX4 KCNJ6 BRCC3 HSD3B2 FAM111A SYCP3 GATA4 HESX1 SIM1 CYB5A FGF8 XPA CDKN1C FANCM CHD7 TDRD9 DCAF17 GLI2 PROK2 ARL6 MCM8 DDX3Y KLHL10 HS6ST1 KISS1R CCDC141 DAZ4 SEMA3A CHRM3 CTDP1 FMR1 SPRY4 DCC DHX37 ERCC3 SRY PMM2 TACR3 CUL4B GBA2 LEP CYP17A1 RLIM DNAJC19 FSHB OGT GNRHR BBS1 DAZ2 FBN1 FGFR1 ERCC5 SOX9 SAMD9 LAS1L SLC39A4 ZFPM2 DMXL2 TAF4B CCDC28B PHGDH POR B4GAT1 TAC3 OCA2 MBTPS2 NR0B1 VAMP7 TCTN3 SATB2 ERCC2 SRA1 SOHLH1 MEIOB HDAC8 SOX10 DAZ3 SEMA3E USP9Y DAZ1 FLRT3 FOXA2 PHF6 CFTR CUL7 NDNF SYCE1 ERCC4 TEX14 LEPR OTX2 DKC1 MAP3K1 KISS1 WWOX RAB18 HP_HYPOPLASIA_OF_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_PENIS RNASEH2B WDR35 RHO KDM6A CLIP2 UBR1 ANOS1 CDH11 WNT5A HESX1 GNRH1 ATRX KIAA1109 EYS LHX4 SIX3 SAMHD1 KCNA1 RP2 RPGR CCDC22 PROKR2 PRPF4 PDE6B IFT27 THOC2 GMPPB MLXIPL LARGE1 RSPO2 ARX ARCN1 PIGQ SAG IL17RD SIK1 MAGEL2 ALX4 TBC1D20 FEZF1 HDAC8 IFT140 NRL DISP1 ROBO1 SLC29A3 CDKN1C COX7B ATP6V1A GTF2I DHCR7 SETBP1 NDUFB11 THOC6 RNU4ATAC C8orf37 WT1 FGFR1 NODAL SEMA3E B3GALNT2 DMRT3 ARL2BP FRAS1 RP1 ROR2 LHB TBL2 DHODH AHI1 TSPYL1 POMGNT1 CLRN1 SLC25A22 WDR11 GAS1 ALKBH8 SMC1A LMX1B GATA4 CDC6 PHF6 DYNC2H1 TCF4 MNX1 HERC2 DYNC2I2 FGF8 ACTB ORC1 POMT2 PWAR1 CDON VAC14 ERCC8 RAB18 RAB3GAP2 LIMK1 XRCC4 TP63 ZNF513 GRIA3 SALL1 PNPLA6 SCN1B PCARE PTPN11 CDT1 DCAF17 UBE2A INTU FAM111A RP9 PROK2 PTCH1 ARL6 RNASEH2C FZD2 KISS1R FSCN2 NPAP1 CDKL5 MBD5 SEMA3A DVL3 SMC3 KIF7 SNORD116-1 IFIH1 CHRNG SHH CENPT HCCS SPRY4 USP7 MAMLD1 DCC POMK POLR1C EIF2S3 KIAA1549 NEK2 SIN3A BBS5 TACR3 SIX6 PIGA CERKL COG5 RLIM IFT88 POMT1 MKRN3 SNORD115-1 EED MADD CDC45 EHMT1 COL4A1 GPC4 SMCHD1 RGR STT3A IMPDH1 IFT172 TRIM32 BBIP1 COLEC10 ZFPM2 ZEB2 DLL1 SC5D SCN2A TWIST2 TTC8 BBS9 DHX37 B4GAT1 PSMD12 KCNAB2 TAC3 POLE DMXL2 KATNIP FGF17 SMO GLI2 LEP STXBP1 NR0B1 VAMP7 SRY GNRHR NSMF GNAO1 RAB3GAP1 SOX3 SOX9 SRA1 HS6ST1 PAFAH1B1 USH2A SLC25A24 ALG12 RPE65 AGBL5 KAT6B KLHL40 ARHGEF18 DVL1 STT3B KMT2D CDHR1 NDN OPHN1 BMP4 RNF113A SOX2 ELN NPHP1 GABRD CYP17A1 FREM2 PBX1 NEB IFT80 ZNF408 DAG1 HGSNAT FKRP NDNF PHF21A RBP3 IGF2 CA4 NR5A1 TBL1XR1 YWHAE RAD21 ABCA4 PPP1R12A MAP3K1 RERE SNRPN MTM1 FKTN SLC7A14 TBX3 GLI3 WDPCP LZTFL1 C2CD3 SNRNP200 TOPORS KIAA0586 ALMS1 DUSP6 SEMA4A B9D2 IDH3A CNGB1 SUZ12 AXL RXYLT1 SGPL1 CYB5A SRCAP DIS3L2 BBS1 PIEZO2 AR BBS2 MEGF8 ACTA1 GTF2IRD1 BBS10 SCAPER DHDDS TBCE POR PDE6A TRRAP RFC2 KIZ RP1L1 ANK1 LIG4 CRPPA PNKP INPP5E GPC3 ORC4 DYRK1A ERCC2 KLHL7 KDM5C TGIF1 ADAR ORC6 GPR161 ERCC6 LRAT WASHC5 CRX PRKDC SETD5 CHD7 SIM1 GHR DCX FANCL CDH2 LMOD3 FAT4 SKI MCTP2 PROM1 EZH2 OTX2 BBS7 MYH3 NEUROD2 IMPG2 OFD1 GRIP1 CTU2 RYR1 AHR KLHL41 CCDC141 MAK CHD4 GMNN PDE6G WNT7A CRB1 TAPT1 ZIC2 MYRF LSS UBA1 SPATA7 CUL4B PRPF3 PRCD NXN PIGP ARNT2 RDH12 TRIM8 CILK1 CEP290 DDX6 TULP1 SAMD9 DHX38 BUB1B LAS1L FIG4 TOE1 TREX1 CCDC28B MKKS SRD5A2 NIPBL HERC1 RLBP1 CNGA1 NR2E3 PRDM16 KMT2A BBS4 EXT2 HSD3B2 ADAT3 DYNC2I1 SUFU PRPH2 SATB2 BBS12 REEP6 HMGA2 PRRX1 ATAD3A ARL3 HOXA13 RNASEH2A HUWE1 GUCA1B IDH3B NEK1 DACT1 PWRN1 HOXD13 TUB SOX10 BEST1 MKS1 PRPF31 FAM161A ISL1 ZBTB16 CASK PRPF6 TDGF1 MERTK TCOF1 BAZ1B FLRT3 NSD1 DNAJC19 FANCD2 ROM1 CEP41 PLAG1 FOXH1 SDCCAG8 PRPF8 POLR1D RTTN POMGNT2 EBF3 KLHL15 KISS1 WWOX ECE1 HP_LARYNGEAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_HYPOPLASIA SF3B4 INTU KRAS HYLS1 PRRX1 HP_LARYNGOTRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOTRACHEOMALACIA EMC1 COL2A1 TONSL TRRAP FLNB HK1 HAAO KIF22 HP_REPETITIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REPETITIVE_COMPULSIVE_BEHAVIOR WDR26 SYT1 FOXP1 DNAJC19 NR2F1 GRN AUTS2 TSC1 TSC2 HP_AUDITORY_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUDITORY_HALLUCINATIONS CDH2 FIG4 SON CLN6 CEP85L MMACHC CACNA1A DNAJC5 HP_INAPPROPRIATE_SEXUAL_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR PSEN1 MAPT GNAS ATP7B GRN HP_OBSESSIVE_COMPULSIVE_TRAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_TRAIT SCN1A MAGEL2 STXBP1 DMPK SNRPN SYNGAP1 GABRG2 USP7 PCDH19 STX1B GABRA1 OCA2 SCN2A ADGRV1 GABRD NDN SLC45A1 YWHAG HCN1 ELN MLXIPL SCN1B GATAD2B PANK2 SCN9A FMR1 HP_APLASIA_HYPOPLASIA_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EAR MSX2 HSPA9 FKTN NFIX POLR1C GLI3 NIN PLCB4 POLA1 STAG2 PCNT AGA MAF HOXA13 ATRX FGFR3 FGFR2 TWIST1 HOXA2 TTC37 FOXI1 CHST3 TSR2 LETM1 FAT4 SF3B4 CRPPA RPS17 MAPRE2 SETD1A KIF15 AMER1 SLC35C1 RPL11 CDC45 FBXO11 RPS19 MBD5 PAK1 EFTUD2 RBM10 ZNF462 TBX15 LAS1L B3GAT3 RIC1 PSMD12 TWIST2 KCTD1 LMBRD1 NSD2 ADA2 DDX11 GNAI3 FANCB RPL35A POMT2 RSPO2 MEG3 DHODH CDT1 RNU4ATAC RPS10 KCNAB2 PRDM16 RPL35 RPL15 RPS7 HNRNPK POLE RTL1 RPL31 TFAP2A RPS26 TP63 PAM16 B3GLCT ORC6 SEMA3E POLR1A GBA BPTF LARGE1 ORC4 TCTN3 CENPJ SIX5 PCGF2 PLEC WNT3 RSPRY1 EYA1 CHD7 SMAD4 BMP2 RPS24 MED12 GATA1 DACT1 PIGN NELFA CDC6 RPL26 TCOF1 POLR1D RPS28 CNOT1 COG1 OTUD6B ADNP FANCL CHUK SKI RPS29 HDAC8 RPL18 ORC1 SIX1 SIM1 ABHD5 GABRD SPOP PBX1 SALL1 FGF3 POMT1 HS6ST2 DCHS1 EDN1 INTU MCM5 RPL5 GMNN PIK3CA KCNJ10 RPS27 RPS15A FKRP MAP1B DLK1 RERE POC1A SLC26A4 RPL27 HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR EYA1 FGF3 SIX5 DDX11 KCNJ10 SIX1 SLC26A4 FOXI1 HP_ABNORMAL_PROSTATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROSTATE_MORPHOLOGY STAT6 RAD51D BMPR1A GREM1 KLF6 ZFHX3 PALB2 APC CHEK2 HGD PTEN RNF43 BTK BRIP1 TP53 RAD51 CDKN2A HLA-DPB1 RNASEL RAD51C PTPN22 CDH1 HLA-DPA1 NAB2 PHF6 PRTN3 BRCA2 BARD1 MDM2 MXI1 NBN BRCA1 AR EPHB2 MRE11 MAD1L1 CTLA4 RAD50 HP_ABNORMAL_RENAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_ARTERY_MORPHOLOGY STAT1 ABCG8 PCSK9 SDHB TMEM127 FIG4 RET ABCG5 GDNF VHL MAX ELN ADA2 MLXIPL NF1 LDLRAP1 LDLR POU3F4 KIF1B APOB YY1AP1 JAG1 VAC14 SDHD HP_CONGENITAL_BILATERAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION COL12A1 TELO2 CLTCL1 SHROOM4 COL1A1 PLOD1 FBLN1 HP_LIMITED_HIP_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_HIP_MOVEMENT TNNT1 TELO2 COMP UNC80 TTN TPM3 MYL2 PIGY ITGA7 COL2A1 FKBP10 HSPG2 FBN2 LGI4 MYH3 ZBTB20 CHST3 KAT6B TRPV4 RNU4ATAC NIPA1 NSD1 SELENON F8 TPM2 MAP3K7 ACTA1 PIEZO2 FGFR3 GPC6 MMP2 NALCN MAP3K20 ESCO2 PTH1R RYR1 PNPT1 SLC26A2 SETD2 APC2 SLC6A9 ZC4H2 MYH7 BICD2 MATN3 SLC10A7 HACD1 DYSF ERLIN2 SPEG ZMPSTE24 GARS1 PCYT1A DST GNPTAB BIN1 LMNA HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD IDUA POP1 TRAF3IP1 SLC26A2 IFNGR1 HP_ACETABULAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_DYSPLASIA EXTL3 EIF4A3 RPS15A TIMM22 AP4M1 AP4B1 GUSB POLR1A MYO18B AP3B1 AP4E1 AP4S1 COMP VPS33A B3GALT6 HP_LARGE_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_ILIAC_WINGS RNU4ATAC B3GALT6 AMER1 SMAD4 ATP7A HP_HYPOPLASTIC_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_PELVIS WNT7A RSPO2 COL2A1 WNT3 PORCN ERCC6 CCDC8 NSDHL CUL7 CEP120 OBSL1 COMP POC1A ERCC8 HP_HIP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_OSTEOARTHRITIS GDF5 FRZB COL2A1 HLA-B COMP TRAPPC2 ACAN SMAD3 TRPV4 CLCN7 HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION TBCE IGF2 ESCO2 INSR POLR3A H19 IGF1 EMG1 NIN HP_SEVERE_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION RPL10 CPLX1 TBC1D20 HDAC8 SHPK WFS1 IGF1 TSHB FOXG1 POU1F1 GNPTAB NSD2 CTBP1 NIPBL SMC1A SETD5 TRMT10A FGFRL1 KMT2A ASXL3 PPP1R15B LETM1 EMG1 INSR RYR1 BLM RAD21 LHX4 SMC3 GATA3 NIN ERCC8 HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS CD3E CD247 RAG1 PTPRC CD3D RAG2 IL7R HP_FEEDING_DIFFICULTIES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES_IN_INFANCY KDM6A HSPD1 NODAL PIGW PUF60 SOX4 NALCN ARMC9 ATP7A PEX5 DLL1 COL6A1 TBX1 SCYL2 LONP1 ARID2 PRPS1 DLK1 PEX12 BCS1L SPATA5 DISP1 IFT140 ACTA1 CCDC22 ACTN2 TSEN15 MLXIPL B9D1 ARX SIX3 PEX6 KANSL1 MAP3K20 MBD5 ZMYND11 OFD1 MAGEL2 TOP3A PEX2 OCRL SCNN1G HDAC8 SEC24C BMP4 RAC1 SNRPN TBC1D24 SEPSECS TAOK1 SMPD1 CLCF1 TSPYL1 IFT172 DHCR7 SETBP1 MYT1L TSEN54 KATNIP BCOR SLC25A22 MTR NDN DYNC2I1 ASH1L SYT2 EP300 SEMA3E NACC1 CLTCL1 RAB3GAP1 SMC1A MSX1 TTC21B WWOX RYR1 SOS2 SHH B3GLCT PDE10A PDSS2 EPG5 DEAF1 MCCC1 TMEM67 AUTS2 ITGA7 PEX26 ARSA GFM2 MEG3 INPP5E PEX16 SOS1 GP1BB PEX13 CHAT BRSK2 UBB SNAP25 TXNL4A COL6A3 MAP3K7 SDHAF1 HADHB HERC2 ERCC5 SDHA CARS1 GOT2 GAA BRAF CDON ORC1 PWAR1 AVPR2 TRIO HRAS ERCC1 C2CD3 CYP11B2 SIM1 PTCH1 GRHL3 ASL SIK1 GRM7 GAS1 SIGMAR1 UQCRFS1 C12orf65 CDH15 AHI1 NDUFS2 IGF2 PURA AGRN PSAT1 POLR1B SCO1 DALRD3 ODC1 PEX3 MRAS DCHS1 KIF1A NPAP1 DOCK8 BLM UBTF CEP104 YY1 GALC ARHGAP29 DMPK SMC3 TRAF3IP2 SNORD116-1 ZIC2 SLC18A3 PEX14 RAB11A COX10 MED12L STXBP1 TREX1 RPGRIP1L RTL1 KDM5B VAMP1 TDGF1 PIEZO2 PLAG1 USP7 SLC46A1 CISD2 HSPG2 DYNC2H1 MAP2K1 PTPN23 MOCS1 DPF2 CSPP1 NFIX PGAP2 TGIF1 CLTC TMEM216 COL13A1 COMT COG5 HLCS CDK8 MKRN3 HADH SNORD115-1 EED PSAP ALS2 ACADS FDFT1 DLG1 HIVEP2 DLEC1 MRPS16 NDUFAF3 PNPT1 TCTN1 PPP3CA DYNC1H1 UGDH TRPM3 PTS SYNGAP1 FLCN RETREG1 DYNC2LI1 LAMA2 VRK1 CREBBP PDHA1 UBE3A COL1A1 SMARCD1 PQBP1 SLC5A6 SCNN1A SAMHD1 PEX10 CTCF KCNAB2 CPT1A AQP2 FGF8 SLC16A2 KRAS BIN1 SCNN1B BTD PRKCSH DCX CHRNA1 SLC52A1 NONO GNPTAB DNM1L HSD17B4 YIF1B ST3GAL5 GRIN2B TMEM237 KCNQ5 CAMK2A CASK MMAA MYL2 NDUFAF8 KIRREL3 HTRA2 OCA2 DYRK1A HMGA2 BCKDHB SLC9A6 NDUFB8 RNF6 MMACHC IL17F EEF1A2 LAMB2 WDR26 RALGAPA1 SET ARID1A GLI2 RRAS PIBF1 PPP2R1A CIC LIFR GABRD SPOP RIT1 FGFR1 DBT WDR19 ACTL6B HNRNPK RAPSN SMARCC2 TBCK ERCC6 TRMU PARS2 SDHB UGP2 TCTN3 EMG1 ATP6V0A2 CLDN16 RAD21 ASXL2 SMARCB1 CNTN1 TSFM SCN9A RERE ERCC8 COL7A1 PEX11B TET3 NDUFS4 RPS6KA3 SURF1 PGAP3 REV3L RRAS2 NRAS RASA2 TXN2 FLNA ASXL3 UFD1 FLII ARID1B KIF15 DDC ELP1 SUZ12 TUBB6 ZNHIT3 KAT8 RAI1 FARSA SRCAP FUS KDM3B KIF7 RAB3GAP2 ITCH KCNK9 SLC5A7 FAM149B1 AIFM1 POGZ PNPO COQ2 VPS13B CSNK2B SCO2 RREB1 CPLANE1 CACNG2 MTHFR HIRA DPYS TGFB1 PDE6D IFT80 NLRC4 CAMK2B PMM2 ALG14 OPA1 A2ML1 RNF13 TRIP4 TIMM22 KIAA0753 COL6A2 UNC80 WASHC5 TK2 FOXH1 MYH3 RAF1 ZMIZ1 SMARCE1 PIGN TSEN2 SETD5 TCTN2 SON CNOT3 STAG2 DLX4 PTPN11 SMARCA4 FGFR2 ARL13B KMT2D GTPBP3 TP63 SKI SCN4A EZH2 PIGV IRF6 PIGL CDH1 EPB41L1 SELENON IQSEC2 TRAPPC4 TGFBR2 CLEC7A SATB2 CASR HADHA PCCA MT-TE TPM2 JMJD1C CBL TUBB3 PRDX1 HYLS1 MAP2K2 CC2D2A CNOT2 DYNC2I2 SLC25A1 CEP41 CRLF1 WNK1 PIGT SDHD SIN3A SLC6A8 GPT2 MKS1 COL11A2 PEX19 RHBDF2 SRP54 COLQ PANK2 ATP10A NECTIN1 DGUOK PIGQ PLAA SOX11 MMAB BUB1B EFTUD2 ATRX SH3BP2 IL17RC SLC1A4 MOGS LMBRD1 SUCLA2 NIPBL BCKDHA HACD1 PRDM16 PIGY KMT2A DEGS1 CEP120 KIAA0586 MECP2 GSX2 ASPA GRIN1 PCGF2 TPM3 PLXND1 ATAD3A IL17RA CHD7 ARVCF PWRN1 ARL3 FLI1 RARS2 COX8A ELN ADNP TOR1A KLHL40 CPT2 TSEN34 SPG11 AFF4 TALDO1 PIGO MYO9A SEC63 H19 NSD1 PAX8 PHF6 WFS1 LZTR1 CUX1 FOXP1 CHAMP1 ERCC2 TANGO2 PEX1 CDKN1C LRP5 CHRNE FKRP PIGU PCCB TRAPPC12 TCF4 FAT4 FARS2 UBE3B HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE ALPL WDR35 COMP MMP13 FGFR3 COL11A1 EVC WNT5A FGFR1 TONSL PCYT1A IFT122 FLNB RMRP LBR CEP120 HDAC6 MAB21L2 CHST3 FZD2 SHOX KMT2A NXN MYSM1 SLC26A2 MTOR GPC6 GDF5 XYLT1 EBP ARCN1 MATN3 SLC39A8 DYM COL2A1 IFT43 IFT80 PKDCC TBX15 B3GAT3 CFAP410 WDR19 PEX7 ASXL1 GPX4 CANT1 COL1A1 MBTPS2 KIAA0586 DYNC2LI1 B3GLCT GLI1 CREB3L1 KYNU GSC DYNC2I1 EVC2 ACAN DDR2 SIK3 HSPG2 INPPL1 XRCC4 GNPAT TRIP11 KDELR2 PPIB COL1A2 ALG12 IFT52 MESD ROR2 MIR140 DYNC2H1 SOX9 DVL1 COG1 DYNC2I2 IHH DHCR24 CSPP1 SMC1A COL10A1 PTH1R P3H1 SLC35D1 NSMCE2 PRKAR1A BMPR1B DHCR7 AGPS CRTAP HP_ADIPOSE_TISSUE_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADIPOSE_TISSUE_LOSS INSR GTF2H5 FOS KCNJ6 PPARG ERCC6 MPLKIP GTF2E2 CAV1 PSMB8 ERCC3 RNF113A CIDEC LMNA ZMPSTE24 CAVIN1 LMNB2 POLR3A BSCL2 ERCC2 BLM AGPAT2 PLIN1 TARS1 ERCC4 ERCC8 LIPE HP_SEVERE_SHORT_LIMB_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_LIMB_DWARFISM XRCC4 NSMCE2 LBR GDF5 FLNB HP_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTNATAL_GROWTH_RETARDATION KDM6A SALL4 COLEC10 TCF4 WFS1 MGAT2 ERCC4 XYLT1 ERCC6 TSHB DLK1 NAA10 TRMT10A KMT2A CTC1 CCDC22 ARID1B KIF15 DMXL2 PYGL PSPH KANSL1 SMC1A MBD5 CKAP2L LIG4 PLAGL1 B3GALT6 PIEZO2 CPLX1 TBC1D20 HDAC8 CTNNB1 BRIP1 IGFALS MEG3 CDKN1C DYM NSD2 NDE1 HYMAI NSUN2 TBCE ESCO2 RPL13 TAF1 LMNA PNPLA8 EP300 SEMA3E CYP27B1 CDAN1 NALCN CHD1 GATA3 NIN B3GLCT ATR PALB2 DHODH SPTB KCNJ6 FAM111A IGF1 WASHC5 ARG1 MYH3 EPB41 SETD5 CHD7 ATP6V0A2 PPP1R15B SOX2 PTPN11 COG1 KMT2D INSR DCX COG4 PTRH2 MASP1 RNU4ATAC POU3F4 BRAF ACTB MCTP2 STAT5B SETBP1 VAC14 SMOC1 CASK ERCC8 SHPK CCBE1 ATRX KIF20A CYP2R1 FOXG1 IGF2 SATB2 PLOD3 MAF IARS1 PRKAR1A RERE RYR1 COQ7 BLM TUBB3 LHX4 SMC3 KIF7 LARP7 RTL1 GYPC ADAMTS3 TNNT2 PCNT PCYT1A MAP2K1 GNPTAB NBAS SIN3A SIX6 TGDS GINS1 ALDH18A1 ASXL3 MYPN LETM1 H19 DNAJC19 GM2A MTRR VPS35L PDE4D BNC2 RNPC3 RPL10 BUB1B EBP FIG4 POU1F1 CREBBP CDK10 NIPBL GNA11 COLEC11 TFAP2A MTX2 SLC2A1 ATP6V1A HMGA2 FLNC TNNI3 CDC42 CTBP1 SNRPB FGFRL1 FAT4 SLC4A1 GUSB RAB3GAP2 RTEL1 FLNA PLAG1 CUL7 SEC24D MCM4 SPTA1 ATP6V1E1 EMG1 GHSR RAD21 TMCO1 RAB18 HP_RHIZOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIA B3GLCT MMP13 GNPAT COL11A1 FZD2 WNT5A FGFR1 PCYT1A IFT122 FLNB RMRP LBR CEP120 ALG12 HDAC6 MAB21L2 IFT52 CHST3 KMT2A ACAN DVL1 GPX4 MYSM1 SLC26A2 MTOR GPC6 COG1 FGFR3 GDF5 TONSL EBP ARCN1 DHCR24 WDR35 CSPP1 DYM SMC1A IFT43 IFT80 PTH1R PKDCC TBX15 B3GAT3 CFAP410 WDR19 PEX7 ASXL1 MBTPS2 KIAA0586 DHCR7 AGPS SHOX INPPL1 CREB3L1 KYNU GSC CRTAP SIK3 HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY PCSK1 INPP5E MC4R POMC VPS13B HP_NEONATAL_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE COL1A1 SLC26A2 SOX9 PTH1R EVC RMRP DYNC2LI1 FGFR3 GLI1 COL2A1 EVC2 COL1A2 HP_GENERALIZED_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_NEONATAL_HYPOTONIA PEX26 SUCLG1 PEX10 TBC1D24 MT-TT MTHFR PEX6 ATP2B3 PEX3 FIG4 PSMD12 COG4 ADNP MED12 PEX16 BPTF PEX12 VAC14 PEX2 HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK KCNMA1 RNASEH2B NODAL CACNA1G IFIH1 HTT FDXR NEXMIF NDUFB11 DHPS SLC6A3 PRPS1 EXTL3 TRMT10A SAMHD1 DISP1 GRIN1 AP3D1 DDC TSEN15 WWOX TGIF1 SIX3 PAFAH1B1 NEDD4L MRPS22 NDUFS2 NALCN PYCR2 PLP1 ALG6 SEPSECS OCLN PNPO DNAJC12 DHDDS WARS2 NSUN2 GM2A BRAT1 WDR45B GLYCTK SLC25A19 ALG3 SLC30A9 SPR PIGP SPATA5 PCBD1 SMC1A KCNQ3 ADCY5 SHH MAN2B1 ADAR PDE10A GLI2 DENND5A OPA1 GFM2 UNC80 NRROS GFM1 GALC MBOAT7 NSMCE3 FAM126A LMX1B TSEN2 LIPT1 ABCC8 PSAT1 RUSC2 STAG2 PPP1R15B UFC1 DCX CDH2 TRAPPC12 CDON TSEN54 TUBGCP2 ELP2 ERCC1 TUBB4A CASK SLC18A2 GAD1 PTCH1 DLL1 GRIA3 NHLRC2 GRM7 GAS1 SLC39A14 ALG11 KCNQ2 ACSF3 NDUFA1 SUCLG1 SCO1 FGF12 VAMP2 PAX7 RNASEH2C ATAD3A PCCA CERT1 TUBB3 FGFR1 FOXH1 INSR ZIC2 RNU12 TREX1 TDGF1 GRIN2A PCDH12 EIF2S3 NECAP1 PTPN23 PMM2 PIGA CHMP1A EMC1 GPHN CACNA1E DARS1 RYR1 PSAP SMG9 WDR73 SOD1 NEUROD2 DDX6 PNPT1 UGDH PTS TMTC3 SLC13A5 GFER AMPD2 SLC6A9 OSTM1 PIK3R2 VPS11 EXOSC3 SOX10 TARS2 GJC2 FGF8 PAM16 VPS13D STXBP1 MECP2 RARS1 MFF GNPTAB YIF1B PCGF2 GLS PIGY KIF1A RNASEH2A PDHX HACE1 PLA2G6 AP4S1 IER3IP1 SLC35A2 ARX ASNS KCNJ11 COG4 GRIN2D MDH1 RAB3GAP2 TSEN34 CHP1 TRNT1 SLC19A3 AIMP1 CTNNB1 MRPL12 ACTL6B PLCB1 HK1 TH ADARB1 RTTN ERCC6 LRRC32 PARS2 CACNA2D2 UGP2 KIDINS220 PCLO PCCB EBF3 FARS2 ERCC8 RAB18 PDP1 UBE3B HP_GENERALIZED_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LYMPHADENOPATHY PRKCD RNF168 LRBA RAC2 IFNGR1 HLA-DRB1 HP_ACUTE_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_RHABDOMYOLYSIS CTDP1 RYR1 LPIN1 TANGO2 CACNA1S HP_DISTAL_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_AMYOTROPHY KDM5C FLNC FGD4 GJB1 ATXN3 TFG ATL1 FLRT1 MFN2 MAG HSPB1 INF2 BSCL2 CPT1C PDK3 BICD2 RYR1 KIF5A CUL4B MT-TE TCAP HINT1 YY1 TPM3 KLC2 DYSF MORC2 ADSS1 LMNA HP_INFANTILE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_MUSCULAR_HYPOTONIA LRP5 MT-ND4 NODAL PIGW MED12 SURF1 GNB1 PGAP3 GAMT ATRX PRMT7 EXTL3 SPATA5 DAG1 USP9X DISP1 KCNA1 ASXL3 KIF15 GMPPB MT-ATP6 TSEN15 TGIF1 SIX3 PIGQ RAI1 GABRG2 NALCN SIK1 MAGEL2 MECP2 ITCH ACADVL TBC1D24 SEPSECS SRD5A3 POGZ COQ2 NACC1 MT-TV CLTCL1 SMC1A DLK1 PNKP ASAH1 SHH MAN2B1 SLC7A7 TELO2 PDSS2 ADAR GLI2 NRXN1 PCDH19 NEU1 MAN1B1 MT-ND1 GFM2 UNC80 SLC25A22 DEAF1 TSEN2 PSAT1 ATP6V0A2 SON STAG2 SIM1 NAGS GTPBP3 ATP6V1B2 GAA CDON TSEN54 BMP2 NUP62 PIGV TUBB2B MT-ND6 PTCH1 CNTNAP2 PIGL DLL1 MT-TL1 EFL1 UGT1A1 GAS1 FGFR3 SCN1B SLC39A14 ALG11 C12orf65 NEUROD2 NDUFS2 SCN2A SATB2 MAF NEK1 SUCLG1 TRAPPC11 SMS PAX7 COL5A1 DCHS1 TUBB3 FGFR1 UBTF FOXH1 MT-TK GALC CDKL5 ZIC2 ITGA7 RNU12 TDGF1 GRIN2A RAC1 IGF2 TRPS1 PGAP2 DNMT3A COG5 H19 PIGP COG8 GM2A POMT1 RYR1 PSAP SARDH TRIM8 LARGE1 ATP10A NDUFAF3 ERMARD RTL1 GFER NTNG2 ZEB2 MT-ND2 UBE3A PEX13 AHCY RPL10 KCNN3 SNRPN KCNH1 NKX2-1 PIGY ACADS SCN1A FGF8 DMXL2 CLCN4 SUOX ADAT3 RARS1 MFF GNAO1 ATP6V1A MT-TW TBCD POMT2 CDC42 MEG3 SLC35A2 NDUFB8 ADNP ADGRG1 CASK TSEN34 MT-ND5 PIGO SLC19A3 STXBP1 ARX WARS2 SRPX2 GABRA1 SYT1 PI4KA RTTN ATP6V1E1 MT-ND3 OCA2 EBF3 GATAD2B FAT4 PACS1 FKRP SCO2 CWF19L1 SCN9A HP_INTRINSIC_HAND_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRINSIC_HAND_MUSCLE_ATROPHY KLHL9 RYR1 NGLY1 DYSF HARS1 CAV3 LDB3 HINT1 SVBP FLNC SQSTM1 VCP TIA1 HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS MME DYSF HSPB3 PRRT2 RYR1 TTN SORD GMPPB SCN1A HARS1 HK1 FLNC MORC2 CACNA1A ATP1A2 SQSTM1 ADSS1 TIA1 HP_TIBIALIS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIALIS_MUSCLE_WEAKNESS GNE C12orf65 DYSF TTN MYH7 HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS PHKA1 SLC16A1 CAV3 ATP2A1 PYGM HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES FRG1 PLEC ANO5 CAV3 TTN DAG1 TPM3 POMT2 FKRP MYL2 ITGA7 CRPPA DPM3 RASA1 MAP3K20 MTMR14 SGCB ACTA1 DMD CAPN3 POMT1 GMPPB PLIN1 KCNA1 LARGE1 AR SLC25A1 DHX16 CLCN1 LMNA LAMA2 POMGNT2 DNM2 CIDEC SELENON SGCD SGCG MYF6 HACD1 DYSF RYR1 BIN1 PMP22 SGCA TPM2 FKTN LIMS2 TCAP POPDC3 LTBP4 SRY CHCHD10 HP_LEG_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEG_MUSCLE_STIFFNESS KIF1A ATP13A2 VAMP1 SPAST DARS2 ANO10 SYNJ1 MT-ATP6 KIF5A DNAJC6 PODXL LDB3 ZFYVE26 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS POLG ANO5 HMBS LAMA2 SYNE2 DNM2 TRIM32 SORD TMEM43 DMXL2 MFN2 CPOX FLNC TTN PIGN MYF6 MTMR14 DYSF LMNA REEP1 ATP7B RYR1 BIN1 VMA21 FHL1 DYNC1H1 RRM2B MYH7 SYNE1 CRPPA TCAP POPDC3 POGLUT1 CHCHD10 MORC2 POLG2 EMD SMN1 SLC25A4 TWNK ADSS1 LIPE HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS AK9 MUSK CHRNA1 ANO5 LRP4 CHRNE CHRND TMEM43 SCN4A MFN2 CPOX MTMR14 LMNA KY CHRNB1 CHCHD10 EMD DOK7 ADSS1 COL13A1 HMBS LAMA2 SYNE2 DNM2 POMT1 LDB3 MYH7 MYF6 DYSF AGRN RYR1 BIN1 RAPSN FHL1 GMPPB SYNE1 CRPPA TCAP MORC2 FBXO38 PPOX LIPE HP_HYPOPLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_MUSCULATURE COLEC11 MYMK GLE1 HBB FLNA SALL4 MAP3K7 FBN2 CAV3 SLC16A2 ATP6V0A2 RBM8A HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES AK9 MUSK CHRNA1 STIM1 LRP4 COL13A1 CHRNE CHRND CAV3 LDB3 SCN4A VCP KLHL9 NEB AGRN RAPSN DYSF HINT1 CHRNB1 FBXO38 DOK7 HP_EXERCISE_INDUCED_MUSCLE_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE SLC16A1 AMPD1 GATA6 DBH TRAPPC11 CRELD1 KCNE3 GATA4 CACNA1S AMPD3 SCN4A GABRA3 KCNJ18 PGK1 NR2F2 HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS SMCHD1 FRG1 VDR PIGQ CAPN3 GYG1 SKI CYP27B1 NF1 PTEN MAP2K2 MYH7 HP_INCREASED_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CONNECTIVE_TISSUE TNXB ANO5 AKT2 ACTA1 NEB INPP5K COL6A2 AIFM1 LAMA2 POMC MAP3K20 KLHL40 DYSF MT-TK LMNA POLR3A NEFL LIMS2 PLEC RYR1 KLHL41 TCAP LMOD3 PCSK1 TNPO3 MC4R LIPE HP_FOOT_DORSIFLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_DORSIFLEXOR_WEAKNESS LYST MARS1 EGR2 MPZ SBF2 PMP22 DMPK TTN DNAJB2 LMNA LRP12 TRPV4 MFN2 GDAP1 SQSTM1 VCP FHL1 KARS1 MME GNE NEB BSCL2 FA2H LBR TPM2 SACS COX6A1 RRM2B ACTA1 HINT1 MPV17 SPG11 LMOD3 LRSAM1 RAI1 CRYAB SLC25A21 IGHMBP2 ADSS1 TIA1 HSPB1 MCM3AP GYG1 GJB1 MORC2 RAB7A LDB3 CFL2 KLHL41 FLNC TBCE SCO2 POLG MYH7 COA7 INF2 C12orf65 ALDH18A1 MYOT NEFL PNPLA2 SMCHD1 ATP1A1 TCAP NF2 ORAI1 SIGMAR1 DES PRX DYSF AARS1 KIF1B COX20 ACTN2 TYMP HP_DIFFICULTY_RUNNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_RUNNING GFPT1 STIM1 DYNC1H1 RYR1 ANO5 DPAGT1 LAMA2 MEGF10 MFN2 MICU1 FLNC TPM3 ALG2 TTN BICD2 PNPLA2 GMPPB SGCG DYSF REEP1 KY MYPN VMA21 ALG14 KCNC3 PYROXD1 TPM2 MT-TE SPEG FKRP TCAP POPDC3 TNPO3 MORC2 FBXO38 BIN1 PEX2 ADSS1 COL12A1 KBTBD13 HP_PERONEAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERONEAL_MUSCLE_ATROPHY SACS HINT1 DES TRPV4 TTN VPS13A WASHC5 LMNA HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT PHKG2 TRMU ENO3 PHKA2 MSTO1 MT-TE PYGM PFKM PHKB HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS VAMP1 REEP1 PLEC PNPLA6 ANO5 TTN PNKP MAPT HSPB8 SLC25A1 BSCL2 MFN2 TRPV4 GNE PMP22 IBA57 MME EXTL3 CPT1C SNAP25 COL13A1 ATL1 MT-ATP6 HINT1 SARDH CHCHD10 SLC5A7 ADSS1 MYO9A HSPB3 FGD4 SORD CHAT HK1 FLNC VHL MYH7 AGRN HSPB1 C12orf65 TDP1 DES MTTP SCYL1 SYT2 GMPPB GARS1 DYSF HARS1 TCAP TPM3 MORC2 SLC18A3 LMNA HP_GENERALIZED_LIMB_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY KBTBD13 PNPLA6 KLHL41 DARS2 GMPPB SCYL1 PNPLA2 MYPN ACTA1 SGCD LEMD3 TPM3 YARS2 CARS1 NEB PUS1 SCO2 MYH7 TPM2 HP_INCREASED_MUSCLE_LIPID_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_LIPID_CONTENT COQ8A ABHD5 KLHL41 MYH7 KCNE3 CACNA1S MYPN COX6A2 ACTA1 GABRA3 KCNJ18 SELENON SURF1 NEB ISCU SDHA PNPLA2 TPM2 AFG3L2 KBTBD13 TRMU MT-TE CPT2 TTN MT-TN SCN4A TPM3 CHCHD10 MSTO1 NDUFA4 HP_INFANTILE_AXIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_AXIAL_HYPOTONIA SHH MAN2B1 TDGF1 GRIN2A NODAL GLI2 CDON STAG2 PTCH1 GFM2 DLL1 FGF8 DISP1 TGIF1 FOXH1 TSEN2 EXTL3 SIX3 PSAT1 GM2A GAS1 RYR1 TSEN15 PSAP TSEN34 TSEN54 SEPSECS WARS2 FGFR1 GFER SLC39A14 ZIC2 RTTN PAX7 TUBB3 GALC SMC1A RARS1 MFF RNU12 HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS KLHL9 NEB MYOT MYH14 LDB3 CAV3 HADHA TRPV4 HADHB PNPLA2 CRYAB HP_GENERALIZED_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIPODYSTROPHY CAV1 KCNJ6 ZMPSTE24 MTX2 LMNA BSCL2 HP_DECREASED_ACHILLES_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACHILLES_REFLEX LDB3 DYSF CRYAB MYH7 FBXO38 IBA57 ADSS1 HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS NEB ABHD5 PLEC TRAPPC11 ANO5 COL6A3 PNPLA2 MYOT MT-TE DYSF LDB3 COL6A2 MT-TN MT-TL1 TK2 COL6A1 PYGM CRYAB COL12A1 MT-TL2 HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES AK9 GNE NEB MUSK CHRNA1 AGRN RAPSN LRP4 COL13A1 CHRNE CHRND MYH7 LDB3 HINT1 SCN4A CHRNB1 DOK7 SQSTM1 TIA1 HP_ALVEOLAR_RIDGE_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RIDGE_OVERGROWTH CD96 BRF1 RBM10 SH3BP2 OFD1 DHCR24 SNRPN NTRK1 TBX15 HP_SPEECH_ARTICULATION_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_ARTICULATION_DIFFICULTIES HTT STAG2 FRRS1L NECTIN1 MAPT IRF6 MAGEL2 BMP4 CDH1 GRHL3 SNRPN GNAI3 SRPX2 GRIN2A GABRG2 OCA2 MSX1 TP63 SLC2A3 UBB NDN FOXP1 DLX4 NF1 ARHGAP29 DLG1 GALT PLCB4 HP_CHRONIC_ORAL_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ORAL_CANDIDIASIS ZAP70 WDR1 JAK3 CARD9 CD3E IL2RG PIK3CD TFRC IL2RA CD3D KNSTRN AIRE DCLRE1C MVK CD247 AP3B1 HP_MEDIAN_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_PALATE HESX1 ZSWIM6 LHX4 LBR FOXA2 PROP1 FZD2 STAG2 OTX2 PTCH1 SIX3 DVL3 POU1F1 DVL1 SLC2A10 ALX3 WNT5A FAM20C GLI2 TGIF1 HP_ANTERIOR_OPEN_BITE_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION KLK4 KCNH1 DSPP GNAI3 RELT ITGB6 GPR68 FAM83H ATP6V1B2 ENAM MMP20 BMP2 KCNN3 AMELX HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS IDUA WNT7A COMP ERCC6 CANT1 WNT3 PEX5 COL2A1 RSPRY1 MATN3 DDRGK1 SHOX CEP120 OBSL1 NELFA CHST3 KAT6B LETM1 RSPO2 TRAPPC2 CTC1 TRPV4 FGFR3 IHH NANS ABCC9 SETBP1 ERCC8 MMP9 B3GALT6 SLC39A13 RUNX2 TBX15 CCDC8 CFAP410 POP1 NSDHL CUL7 NSD2 INTU MEG3 SLC10A7 COL11A2 PORCN AIFM1 RTL1 FN1 SLC26A2 EXOC6B IFNGR1 INPPL1 MTX2 TMEM67 DLK1 CHD4 BMPR1B TRAF3IP1 PIK3C2A IFT140 XYLT1 POC1A HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE KAT6B LETM1 COL11A2 TBX15 MATN3 WNT7A CCDC8 COL2A1 INPPL1 SETBP1 ABCC9 NSD2 INTU OBSL1 NELFA CUL7 HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE COL2A1 GSC RUNX2 FGFR2 NKX3-2 HP_ABNORMAL_PELVIS_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION WDR35 DYNC2H1 LBR COL2A1 RUNX2 FGFR2 IFT80 DYNC2I2 CTSK GSC NKX3-2 DYNC2I1 HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK MATN3 KIAA0586 DYM RNU4ATAC B3GALT6 UFSP2 LBR COL2A1 CSPP1 COMP FLNB HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK MMP9 IDUA COMP B3GALT6 CANT1 SLC39A13 RUNX2 PEX5 RSPRY1 CFAP410 DDRGK1 SHOX POP1 MATN3 COL2A1 MEG3 CHST3 SLC10A7 TRAPPC2 AIFM1 CTC1 RTL1 FN1 SLC26A2 TRPV4 EXOC6B FGFR3 IFNGR1 IHH NANS MTX2 TMEM67 DLK1 CHD4 BMPR1B TRAF3IP1 PIK3C2A IFT140 XYLT1 POC1A HP_DIAPHRAGMATIC_EVENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_EVENTRATION STRA6 PLOD3 LRP2 CHRNG IGHMBP2 ARID2 MTM1 DNAJC19 MYOD1 TRIP4 ASNS HP_DIAPHRAGMATIC_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_WEAKNESS COL12A1 IGHMBP2 DMPK PMP22 MEGF10 TRPV4 COL6A3 SLC52A3 COL6A1 BAG3 TPI1 MORC2 COL6A2 TTN GAA HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON WDR35 CLIP2 COMP NFIX CDH11 SOX4 WNT10A EVC SF3B4 HHAT SHANK3 ABCC9 BRCA1 KCNA1 GDF5 GPC6 TUBB PEX6 ARCN1 CEP55 TGFBR1 TRPS1 FGFR2 SIK1 MAGEL2 AKT1 B3GALT6 GLI3 SNRPN ARHGEF6 DYM IFT172 NSD2 DHCR7 PAX1 NSDHL PIK3R1 ASXL1 GPX4 GNAI3 HYMAI COL10A1 FGFR1 TNNI2 ACTL6A RNU4ATAC ARX FUCA1 LMBR1 GLI1 MSTO1 KCNH1 HOXD13 LMNA TMEM107 PDE3A FGF10 PALB2 PDE4D BRF1 DHODH SEM1 GPC3 PEX5 DEAF1 PEX26 ACTB ZMPSTE24 GLB1 XRCC2 SOS1 GP1BB ADNP LMX1B NELFA DYNC2I2 ERCC5 ALX4 HAAO BRAF SATB2 AXIN2 RELN P3H1 WNT10B SCN1B CCDC8 PTPN11 NFASC COG7 COL2A1 POLR1B GMNN ATAD3A LAGE3 TBXT NPAP1 RAD51 DVL3 SMC3 KIF7 SNORD116-1 SEMA5A RBBP8 DPH1 TBC1D20 VAMP1 TRPV6 IGF1R HSPG2 RBM8A SIN3A SIX6 TMEM216 KMT2E FANCD2 RLIM RHOBTB2 MKRN3 WNT7A COL6A3 TONSL FDFT1 ALX3 POLD1 B9D1 CRKL DIS3L2 BUB3 MYH7 RUNX2 EIF2AK3 FLCN HDAC6 RTL1 PIGS PTH1R IRF6 COL13A1 RPL10 RAB23 PEX2 CNKSR2 DONSON DYNC2LI1 TRAIP ZBTB20 C12orf57 B3GLCT EXT2 PEPD EFNB1 RBPJ GNAS MSX2 STX16 GTF2H5 LTBP4 UBE3B RBM10 NSUN2 MYL2 ACTA1 TRIP11 OCA2 HDAC8 RDH11 TAF1 KCNJ2 FRMPD4 GJA1 CHN1 ASNS ATP6V1B2 FLNB BMP2 KMT2D SHOX MSX1 PSMD12 TRPV4 ARID1A B4GALT7 TP63 GEMIN4 PRKAR1A DYNC2I1 NECTIN1 LIFR FLNA RIT1 IFT80 MYPN PRMT7 FGF3 WDR19 DDRGK1 ANTXR1 MACROH2A1 DCHS1 RPL5 DPAGT1 SLC35D1 STXBP1 IGF2 HCCS GABBR2 SLC29A3 MAD2L2 AGPS FTSJ1 HCFC1 WDFY3 PPP1R12A FBXW11 FGFR3 INPPL1 RERE TMCO1 VPS33B ALOX12B BMPR1B HPGD DOK7 PGAP3 HOXA13 MKS1 RRAS2 PIGV PRRX1 CD96 MAFB PIGN UFD1 RMRP XYLT1 SUZ12 TPM3 TRMT1 FBXO11 SMC1A NUP107 ANKRD11 PLAGL1 TBC1D24 MED13 GTF2IRD1 FBN1 TPRKB ESCO2 SEC24D SLC25A19 ANK1 TGFB1 PDE6D LIG4 ZBTB18 AHDC1 ZIC3 NALCN SEMA3E EZH2 NIN DYRK1A ERCC2 BCR ATR PIK3CD SELENON PPIB ZMIZ1 GATA1 LRP4 SOX2 NOG ABCD4 POLE EXOC6B TRIO BHLHA9 NEPRO CHST3 ACVR1 NSMCE2 KDM5C KCNK9 TPM2 TBX3 INPP5K FAM50A JMJD1C CBL NPR2 PTCH2 CRTAP RPL27 FMR1 CNOT2 SPART SLC25A1 FANCA CRLF1 IFT43 UBA1 MAB21L2 RSPO2 TBCD COL11A2 DSTYK DZIP1L RPL26 SOX9 PLAA NDN ACTG1 ACTL6B ZC4H2 NIPBL SON CANT1 ARL6IP6 CCBE1 KBTBD13 PIEZO2 HACD1 PIGY RPS7 LONP1 TFAP2A RAI1 CEP120 ORC6 MTX2 IHH COL9A3 NKX3-2 CLCN4 ALG13 PRKACB PCGF2 HMGA2 GNPAT COX7B KDM1A COL11A1 COL12A1 PTCHD1 DACT1 WDPCP CDKN1C TCOF1 FLI1 HDAC4 GUSB TOR1A COL6A1 RPGRIP1L AFF4 STAC3 PIGO CDC45 EDA2R EP300 SLC18A3 NSD1 FANCL PHF6 SALL1 VANGL2 EVC2 EBP OTX2 HNRNPU ORC1 IFNGR1 TNNT3 KLHL7 STAMBP CSNK2A1 P4HB TBX4 GATAD2B PSAT1 ATP7A TBL1XR1 SALL4 PIGW MMP13 FBN2 SCYL2 BTRC SLX4 TSR2 TWIST2 TRMT10A TENT5A KMT2A CHST14 RPGRIP1 HNRNPH2 EYA1 ANKLE2 MBD5 NTNG1 CPLX1 OCRL BRIP1 KRAS RPS19 YY1AP1 SETBP1 PTEN COL9A2 TNFRSF11A BCOR FANCC SLC6A17 CLTCL1 FRAS1 TELO2 AUTS2 IGF1 ALX1 RAG2 MYF5 SLC25A22 LRP6 RIPK4 CDC6 DYNC2H1 EPS15L1 PPP1R15B TBX1 MITF UPF3B HINT1 DHCR24 PWAR1 CASK C2CD3 SLC26A2 WASHC5 WDR4 SPECC1L CCDC47 UBE2A HESX1 AGRN ADAMTSL2 IQSEC2 ERCC1 ARL6 PEX3 IFT52 RPS28 CERT1 FKBP10 CDKL5 SHH TTN CHRNG RECQL4 TBX6 PCNT RFT1 POLR1C GNPTAB DPF2 LMNB2 TBX5 PEX7 SPRED1 LETM1 MECP2 POLR3A VANGL1 MEG3 GPC4 SLC39A8 CCL2 GLE1 AGTR2 HOXB1 PIEZO1 ATP6AP2 DMXL2 IFT57 PTCH1 ERCC4 TFAP2B SRY EDARADD HSD17B4 ACAN ZNF41 COL1A2 KAT6A FGD1 COL6A2 OSGEP ALG12 MAP3K7 SLC9A7 PEX14 DPM2 MED12 PIK3C2A PUF60 UBE2T MCM5 CCNQ FGF9 PHF21A SLC10A7 PLK4 TRAF3IP1 RAB33B FANCB RAB18 APC CTNND2 AEBP1 REV3L KDM6A RASA2 SH2B1 KCNJ6 EXTL3 ZNF341 ATRIP FLII ARID1B EXT1 MATN3 NUP133 C1R RAB3GAP2 NOTCH3 MEGF8 BMPR1A RPS6KA3 TAB2 RREB1 PKHD1 DNMT3B TANC2 CPLANE1 CCDC22 RPL35 SETD5 IL2RG RPL31 HIRA PEX1 DDR2 PHGDH BCL11B IDH1 CENPE SLCO2A1 FANCI COL9A1 DSE RAF1 PAX6 PRKACA PITX1 PTHLH BDNF COG1 USP9X TGDS LMOD3 SLC5A7 NUP88 DVL1 GAD1 CHSY1 MYOD1 OFD1 MYH3 DLK1 CHD4 MYH8 DLL4 TAPT1 RAC1 CEP152 TBX15 FUZ ERCC3 SCARF2 MIR17HG SIL1 PIGT NBAS CNTNAP1 NXN NEB PIGP PEX19 MGP PYROXD1 VPS35L SYP BBS1 CILK1 EFEMP2 JAG1 EMC1 MID2 GALNS CDK5 EFTUD2 SOX11 ZNF711 SVBP WAC FBXL4 SLC25A24 PAM16 TMEM67 CEP57 BANF1 TCTN3 RAB3GAP1 HUWE1 SLC35A3 NEK1 CTBP1 ATRX TSPAN7 BRCA2 PWRN1 TRAPPC2 DOLK RPS26 TWIST1 USP27X CSPP1 GHR BCORL1 RARB FLVCR2 SLC39A13 POP1 LZTR1 RFWD3 RTTN PHYH IL1RAPL1 PORCN RPS27 MAPRE2 YARS2 IDH2 ARSB ADGRG6 WNT5A IFT122 DMD RB1 GDI1 BICD2 DPYD MTOR EOGT PSPH NOTCH1 CREBBP PIGQ NEDD4L ZBTB24 HES7 KIF22 FAM20C CENPJ FANCM ADA2 CDT1 MBTPS2 KCNJ8 KIAA0586 BRAT1 FN1 SYT2 BPTF ROR2 MECOM TBL2 ITGA7 CHRNA1 CLCF1 TXNL4A DYNC1H1 MUSK HERC2 GGCX COG4 RAD51C MASP1 NF1 KCNK4 TSEN54 VAC14 OBSL1 LIMK1 SIM1 EDNRA MSL3 CLCN7 CHAT SMARCA2 MET LBR PAX7 WDR73 RPS15A BLM PCYT1A YY1 WRN MYBPC1 KIFBP TTC21B PUS1 NCAPG2 BPNT2 PGAP2 GLUL PIGA EIF4A3 COMT GPKOW FUT8 SNORD115-1 RPL11 CTDP1 PAX9 NAA10 FBXL3 TCTN2 WIPI2 PDHA1 SMARCD1 PQBP1 PEX10 COL1A1 RPS10 GRIP1 GBA D2HGDH NHS ALDH18A1 SIK3 ZSWIM6 AMMECR1 WNT3 SIX1 TCIRG1 BMPER LGI4 NDUFB11 EDN1 WDR81 RRAS BMP4 KAT6B ELN PDGFRB GATA4 STAG1 SPOP SPRTN SRPX2 STRA6 SC5D CUL7 EMG1 EPG5 SMARCC2 LRRC32 CWC27 AIFM1 KNSTRN EDA POC1A SEC31A PEX11B IL7R RNF113A PTDSS1 COX4I1 LTBP3 FZD2 SIX2 MYT1L PIGL VPS53 FOXF1 MAPK1 AMER1 NANS SRCAP LEMD3 PIK3CA SOX6 OCLN INTU FAM149B1 DNAJC21 NEK9 IKBKG DNAI1 SMCHD1 TRRAP RPL15 RFC2 TGFBR2 ORC4 ALG14 DDX6 KIAA0753 UNC80 ALG9 ERCC6 KNL1 SMARCE1 TBCE CNOT3 POLR1D SUFU MCTP2 FANCE CFL2 SMAD4 NEUROD2 KCNN3 COASY CTU2 CEP290 MRPS28 STAG2 PLA2G6 PHIP ERGIC1 INTS1 RSPRY1 ZNF81 CUL4B TMEM231 MYSM1 SLC2A10 HYLS1 TRIM8 ALOXE3 CC2D2A MYMK ARID2 B2M TOE1 CCDC28B HYOU1 CDK10 RPL35A PRDM16 PEX16 DNMT3A TARS1 CTSK ADAT3 CENPF ABCA12 FANCF CDCA7 XRCC4 PLXND1 TGFA ARVCF RINT1 SERPINH1 ZBTB16 PPP2R3C BAZ1B MYO9A NGLY1 ANTXR2 ERBB3 MYCN SH3PXD2B KLHL41 SPEG PAH MYO18B TRAPPC4 DPM1 RAC3 HTT BUB1B TRIP4 MEIS2 IFT140 SKI LOXL3 CHRND SLC35C1 MAP3K20 SUMF1 C1S KIF14 SEC24C ADAMTS2 PSMB8 DLX6 GTF2I MMP9 HBA2 CREB3L1 KYNU AGA SOS2 CHD7 MIR140 DOCK3 TRIM37 PEX13 ARHGAP31 SNAP25 DLX5 MNX1 WDR26 ADA SFRP4 HRAS MPLKIP TCF20 PURA SNIP1 NOTCH2 DNA2 MRAS CRIPT NBN PLCB4 USP7 PIGB PAPSS2 PI4KA MAP2K1 SUMO1 GNAS-AS1 PAK3 RAG1 COG8 EED COL3A1 SSR4 PKDCC ERMARD CHST11 B3GAT3 SCN2A OSTM1 TP53RK KCNAB2 HBA1 SMO CAMK2G GNAO1 IDUA RPS24 SLC35A2 ACP5 ADGRG1 RPL18 CXorf56 ZDHHC9 GABRD TRIP13 RAPSN KPTN SP7 RAD21 SMARCB1 CSGALNACT1 TCF4 ARSL ALMS1 TMEM70 NRAS DOCK6 CTC1 KIF15 MAPK8IP3 BUB1 GTF2E2 CFAP410 PLCB3 VPS13B TBCK POLR1A GSC DLG3 PNKP ASAH1 SNRPB A2ML1 ADAMTS10 PUM1 LTBP2 ZNF335 SMARCA4 MMP2 CHUK FAT4 SMOC1 PPM1D ANAPC1 IFT81 PGM1 ACSL4 ALG1 IRX5 TUBB3 TBX22 ECEL1 ALPL PEX12 PPP3CA RPS17 LAS1L FIG4 BGN B9D2 ACTG2 FERMT1 WASF1 GALNT2 RAB39B SHROOM4 MADD FGFRL1 WT1 RPS29 TASP1 IGFALS PLAG1 FANCG VARS1 HELLS POMGNT1 DCLRE1C LFNG HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES SIX2 PDE4D FLNA COL11A1 RUNX2 NOTCH2 TRIM37 ATRX FUCA1 AMER1 ALX1 ALX3 SFRP4 CTSK AGA PRKAR1A DNAI1 SMCHD1 HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON WDR35 CLIP2 NFIX PUF60 WNT10A ADGRG6 EVC XYLT1 PEX5 WNT5A ATRX IFT122 KDM6A SF3B4 SHANK3 RB1 ABCC9 BRCA1 BICD2 CEP152 DPYD CCDC22 GPC6 TUBB PSPH PEX6 ARCN1 CREBBP CEP55 NEDD4L TGFBR1 TRPS1 ZBTB24 HES7 LIG4 AKT1 FAM20C HDAC8 TBX15 CENPJ DYM NSD2 NEB DHCR7 PAX1 NSDHL PIK3R1 ASXL1 FANCM ADA2 GNAI3 HYMAI FGFR1 SLC26A2 TNNI2 CDT1 ACTL6A RNU4ATAC KIAA0586 BRAT1 ARX FN1 RPS26 FUCA1 SYT2 EP300 MSTO1 OFD1 BPTF TMEM107 ROR2 INPPL1 BRF1 TBL2 DHODH SHOX DEAF1 ITGA7 PEX26 CHRNA1 ACTB ZMPSTE24 GLB1 XRCC2 SOS1 CLCF1 GP1BB SETD5 NELFA TXNL4A MUSK DYNC2I2 ERCC5 MKS1 COG4 FBN1 IHH NF1 ALX4 HAAO BRAF KCNK4 ORC1 TSEN54 VAC14 SATB2 AXIN2 RAB3GAP2 LIMK1 SIM1 EDNRA RELN CHAT PTPN11 NFASC COG7 PLK4 COL11A2 POLR1B GMNN LBR SPECC1L PAX7 ATAD3A LAGE3 WDR73 TBXT CENPE RPS15A LRP4 DNMT3B EBP BLM RAD51 YY1 DVL3 SMC3 KIF7 SEMA5A SLC18A3 CHRNG DPH1 MYBPC1 TBC1D20 VAMP1 TRPV6 IGF1R TTC21B RECQL4 COL2A1 HSPG2 COL11A1 PUS1 NCAPG2 BPNT2 RBM8A PGAP2 SIX6 IFT172 PIGA TMEM216 TGDS EIF4A3 KMT2E FANCD2 COMT RLIM DYNC2H1 GPKOW RHOBTB2 HMGA2 WNT7A COL6A3 RPL11 RPS19 RTL1 FDFT1 ALX3 POLD1 CTDP1 PAX9 NAA10 FBXL3 DIS3L2 BUB3 TCTN2 MYH7 RUNX2 EIF2AK3 FLCN HDAC6 PTH1R IRF6 COL13A1 PQBP1 RPL10 PEX10 RAB23 PEX2 COL1A1 RPS10 KCNH1 TRAIP GRIP1 C12orf57 B3GLCT ERCC2 GBA PEPD D2HGDH EFNB1 MSX2 GTF2H5 LTBP4 TRAPPC2 UBE3B RBM10 NSUN2 AMMECR1 GLE1 CANT1 RAB3GAP1 WNT3 MYL2 ACTA1 SIX1 TCIRG1 AEBP1 BMPER LGI4 SLC25A24 PTEN NDUFB11 RDH11 ATP7A EDN1 TAF1 KCNJ2 DVL1 RPS28 NOTCH3 GJA1 FANCC CHN1 ASNS FLNB MSX1 PSMD12 TRPV4 B4GALT7 RRAS DLK1 TP63 GEMIN4 BMP4 PRKAR1A DYNC2I1 NECTIN1 KAT6B ELN B3GALT6 PDGFRB GATA4 FGFR2 STAG1 FLNA SPOP RIT1 SPRTN IFT80 MYPN SRPX2 STRA6 FGF3 SC5D ANTXR1 CUL7 EMG1 EPG5 DCHS1 RPL5 DPAGT1 TPM2 SLC35D1 LRRC32 IGF2 HCCS SLC29A3 MAD2L2 CWC27 AIFM1 LMNA WDFY3 PPP1R12A FBXW11 RERE TMCO1 POC1A SEC31A VPS33B PEX11B TBX3 DOK7 PGAP3 RNF113A PTDSS1 RRAS2 PRRX1 FZD2 SIX2 CD96 NALCN MAFB MYT1L PIGN UFD1 PIGL VPS53 FOXF1 MAPK1 SLX4 AMER1 SUZ12 TPM3 TRMT1 ACTL6B SMC1A NUP107 RIPK4 SRCAP LEMD3 ANKRD11 PIK3CA PLAGL1 SOX6 MED13 OCLN FAM149B1 GTF2IRD1 DNAJC21 NEK9 DNAI1 SMCHD1 PDE4D TPRKB ESCO2 SEC24D TRRAP RPL15 RFC2 PALB2 SLC25A19 ANK1 PDE6D ZBTB18 AHDC1 SEMA3E TGFBR2 EZH2 B9D1 ORC4 ATR ORC6 KCNJ6 ALG14 DDX6 KIAA0753 SELENON UNC80 WASHC5 ALG9 ERCC6 ZMIZ1 KNL1 GATA1 PSAT1 POLR1D SUFU GHR SOX2 ABCD4 MCTP2 TRIO FANCE CHST3 ACVR1 CFL2 NSMCE2 CPLANE1 COASY NEK1 KCNK9 CTU2 CEP290 ZIC3 JMJD1C CBL STAG2 PLA2G6 PTCH2 RPL27 PHIP ERGIC1 INTS1 CNOT2 SLC25A1 CRLF1 IFT43 UBA1 SIN3A TMEM231 RSPO2 BCOR TBCD SLC2A10 TRIP11 HYLS1 CASK DSTYK TBX5 DZIP1L FGFR3 PORCN SOX9 PIGQ CC2D2A PLAA MYMK ARID2 SVBP ACTG1 TOE1 HYOU1 ZC4H2 NIPBL FANCB RPL35A ARL6IP6 KBTBD13 PIEZO2 HACD1 PRDM16 PIGY RPS7 LONP1 TFAP2A PEX16 RAI1 CEP57 DNMT3A MTX2 COL9A3 TARS1 CTSK NKX3-2 ADAT3 CENPF FANCF TWIST1 CDCA7 XRCC4 PCGF2 PLXND1 GNPAT COX7B COL12A1 TGFA ARVCF WDPCP TCOF1 RINT1 FLI1 SERPINH1 CDC6 GUSB TOR1A COL6A1 RPGRIP1L AFF4 STAC3 CSPP1 PIGO BAZ1B CDC45 MYO9A NSD1 FANCL VANGL2 ERBB3 MYCN SH3PXD2B KLHL41 TCTN3 OTX2 HNRNPU CDKN1C SPEG TNNT3 TAB2 CSNK2A1 PAH MYO18B P4HB TBX4 GATAD2B TRAPPC4 DPM1 SALL4 PIGW RAC3 BUB1B TRIP4 MED12 DDRGK1 FBN2 TBX1 SCYL2 TSR2 TWIST2 TRMT10A TENT5A KMT2A SKI LOXL3 CHST14 RPGRIP1 HNRNPH2 EYA1 CHRND ANKLE2 MAP3K20 MBD5 SUMF1 C1S CPLX1 RBBP8 KIF14 OCRL SEC24C ADAMTS2 PSMB8 TBC1D24 GTF2I SETBP1 TNFRSF11A HBA2 CLTCL1 AGA FRAS1 SOS2 TELO2 MIR140 DOCK3 AUTS2 IGF1 TRIM37 ALX1 MYF5 PEX13 LRP6 NXN SNAP25 WNT10B PPP1R15B MNX1 GPX4 MITF ATP6V1B2 UPF3B COMP WDR26 DYNC2LI1 SFRP4 DHCR24 HRAS C2CD3 RAB18 WDR4 MPLKIP NUP88 NTNG1 TCF20 INTU PURA AGRN IQSEC2 ERCC1 EFTUD2 PEX3 NOTCH2 DNA2 MRAS CRIPT FUZ PEX14 TTN NBN PLCB4 TBX6 PIGB PCNT RFT1 POLR1C PI4KA MAP2K1 GNPTAB CNTNAP1 SUMO1 LETM1 SPRED1 RMRP POLR3A COG8 VANGL1 MEG3 EED COL3A1 SSR4 CCL2 PKDCC ERMARD B3GAT3 PEX7 HOXB1 PIEZO1 OSTM1 ATP6AP2 KCNN3 TP53RK KCNAB2 POLE HBA1 KRAS SMO PTCH1 ERCC4 SRY EVC2 EDARADD HSD17B4 IDUA COL1A2 KAT6A FGD1 DYRK1A COL6A2 RPS24 OSGEP ALG12 ADGRG1 DPM2 RPL18 ZDHHC9 GABRD TRIP13 COG1 UBE2T MCM5 RAPSN PHF21A SLC10A7 KPTN SP7 RAD21 HOXD13 CSGALNACT1 RAB33B APC GLI3 CHSY1 CTNND2 REV3L CEP120 TMEM70 NRAS RASA2 SH2B1 EXTL3 ZNF341 ATRIP DOCK6 FLII ARID1B MAPRE2 BUB1 NUP133 C1R NOG GTF2E2 BMPR1A PLCB3 DONSON VPS13B RREB1 PKHD1 TBCE TANC2 RPL35 TBCK RPL31 HIRA POLR1A GSC PEX1 IFT140 DDR2 KDM5C PHGDH BCL11B SNRPB SNRPN LIFR A2ML1 FANCI COL9A1 DSE RAF1 PAX6 RPL26 CHD7 ZNF335 BDNF RAD51C MMP2 CHUK FAT4 LMOD3 SLC5A7 BMP2 PIGV GAD1 MYOD1 IFT81 PGM1 MECP2 MYH3 ALG1 SMOC1 IRX5 TUBB3 ECEL1 CHD4 ALPL MYH8 TAPT1 ERCC3 PEX12 PIGT PPP3CA EMC1 PEX19 RPS17 EDA PYROXD1 VPS35L BRIP1 CILK1 EFEMP2 GALNS CDK5 FIG4 LAS1L BGN B9D2 PAM16 ACTG2 EXT2 BANF1 EXT1 HUWE1 SLC35A3 CTBP1 BRCA2 MADD FGFRL1 TMEM67 WT1 MAP3K7 RPS29 BCORL1 RARB LMX1B FLVCR2 TASP1 IGFALS PLAG1 LZTR1 RFWD3 FANCG RTTN FANCA VARS1 RPS27 COL9A2 YARS2 ARSB HELLS POMGNT1 LFNG HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN SASH1 SMS ADAR UBE2A LMNA KRT5 PIGN PCNT HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY RNASEH2B PPARG APC DMD CDKN1A RNF113A PSEN2 TMEM43 ALMS1 LDB3 CAVIN1 FGFR1 KCNJ6 CDKN1B NAA10 TRMT10A FAS SAMHD1 ACTN2 HAND2 BSCL2 RAF1 SEC23B PLIN1 PIK3CA PRKACA AKT1 KCNK9 SLC29A3 B4GALT7 GTF2E2 PSMB8 OTULIN BMPR1A PTEN USF3 PIK3R1 LMNB2 MT-TQ CAV1 MSTO1 DOLK KLLN PRKCD SDHA TAF1 FHL1 LMNA RBM28 TGFB1 CAP2 MYH7 ALB HAVCR2 ERCC4 LAMA4 LIPE ADAR TXNRD2 PMM2 SOX18 ERCC6 MYH6 ABCC9 ZMPSTE24 ALX1 LCK VDR CASP10 DES GATAD1 FUCA1 LEMD3 FKTN ATP6V0A2 MT-TK SDHD PPP1R15B INSR MT-TS2 FLNA FBN1 MYBPC3 TNNI3 KRAS MYPN MT-ND5 EMD SLC2A2 FHL2 ERCC8 MPLKIP RASGRP1 PSMB9 SYNE2 GRM7 INPP5K TOP3A ALG11 ENPP1 PHGDH MEFV RNASEH2C MT-TF BLM DSG2 ANKRD1 IFIH1 TNNC1 FASLG PPCS WRN ADAMTS2 SGCD FUZ IGF1R CIDEC ERCC3 MEN1 SCN5A CDC73 SPRED1 CDKN2C GNA11 BAG3 MYSM1 COL3A1 POLR3A VANGL1 TBXT MT-TL1 ERCC2 TTN TAF1A ALX3 POLD1 ACTB RPL10 CCL2 TYROBP USP8 AKT2 SKI CDKN2B VCL PSMB4 TMPO TREX1 TREM2 ABCC6 SLC25A24 PRDM16 MT-TH KIF11 PSEN1 MTX2 SDHC AGPAT2 TARS1 BANF1 MT-RNR1 PLN GTF2H5 ZSWIM6 MT-TP ATP6V1A NEBL COL1A2 TCAP DDOST FH RNASEH2A FLCN CDH23 ADA2 ATP6V1E1 TAZ CRYAB TNNT2 SDHB FOS PDGFRB ACTC1 SPRTN PTF1A TPM1 VANGL2 NEXN POMC PORCN CSRP3 COL1A1 CLMP AP2S1 SYNE1 PCSK1 RBM20 MC4R MFN2 TBL1XR1 HP_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPODYSTROPHY RNASEH2B PPARG DMD SGCD LMNA IGF1R CIDEC PSEN2 TMEM43 SCN5A LDB3 PMM2 CAVIN1 KCNJ6 SAMHD1 BAG3 ACTN2 COL3A1 HAND2 POLR3A BSCL2 FGFR1 RAF1 PLIN1 PIK3R1 TTN TAF1A FBN1 POLD1 ACTB USP8 SLC29A3 AKT2 B4GALT7 CAV1 PSMB8 VCL OTULIN PSMB4 TMPO TREX1 DOLK SDHA FHL1 RBM28 SLC25A24 PRDM16 CAP2 PSEN1 MTX2 AGPAT2 MYH7 ALB BANF1 PLN LAMA4 LIPE ADAR TXNRD2 ATP6V1A NEBL MYH6 TCAP DDOST ABCC9 ZMPSTE24 RNASEH2A DES GATAD1 FUCA1 FKTN CDH23 ATP6V0A2 LMNB2 FLNA MYBPC3 TNNI3 TAZ CRYAB KRAS MYPN EMD TNNT2 FHL2 FOS PDGFRB ACTC1 PSMB9 SPRTN SYNE2 GRM7 TPM1 NEXN ATP6V1E1 RNASEH2C PIK3CA CSRP3 CLMP SYNE1 DSG2 ANKRD1 RBM20 IFIH1 TNNC1 PPCS WRN HP_INCREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ADIPOSE_TISSUE MT-TK LMNA POLR3A PCSK1 AKT2 MC4R INPP5K POMC LIPE HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS LYST KDM1A ARV1 TRAK1 WDR48 FKRP VCP GNB1 CHRND DHPS FBN2 ATRX BSCL2 SMARCE1 GABRG2 KIF5A PRPS1 HNRNPA1 SEPTIN9 GYG1 FHL1 SLC1A2 TSR2 AP5Z1 SPATA5 KY ATL1 ACTA1 RTN2 GMPPB TSEN15 SLC35C1 MYH7 KANSL1 TNPO3 MAP3K20 SLC33A1 NECAP1 DGUOK CAPN1 KIF1A SPG7 SEPSECS ANO5 SBF1 GBA2 SPART SCN8A NEB PAX1 DNAJC12 POMT1 ADA2 WARS2 MYF6 TDP1 MPZ AGRN NEFL NEFH VPS13A GARS1 SYT2 LIMS2 SACS SPEG TBCE HARS1 PIGP CHRNA1 SMARCB1 ADCY5 CRPPA LMNA FGF10 BRF1 POLG2 GABRA2 FXN TTN PRX ITGA7 AMPD3 DNAJB2 TRPV4 GABRA3 ALX1 GFM2 ZFYVE27 SCN4A GALC TRAPPC11 HSPB1 GNE ATP13A2 SNAP25 PDK3 SDHAF1 HADHB EYA1 SALL4 PYCR2 EGR2 YARS1 SDHA SYNE1 HINT1 PLAA NUP62 ERCC1 ADSS1 OBSL1 VAMP1 AKT1 MORC2 GRM7 SGCA CCDC8 CHAT SCN3A KCNJ18 ALG11 C12orf65 CPLANE1 SPR PTPN11 KCNA2 CAPN3 CHRNE POLG CACNA1A RNASEH1 BIN1 MYPN DDHD1 RPS15A CEP126 L1CAM SH3TC2 UBTF CHRNB1 COL6A1 TPM3 NF2 YWHAG SLC18A3 ACTN2 MYBPC1 MUSK SBF2 TRAF7 PIEZO2 CAV3 GMPPA FGFR2 PAX3 ASAH1 PMP22 IBA57 REEP1 COL13A1 KCNB1 DCTN1 RHOBTB2 MTRR RYR1 PSAP RPL11 RPS19 POGLUT1 LARGE1 TWNK FLNA ACTB KATNB1 PNPT1 MCM3AP AARS1 FGD4 GDAP1 GRIN2D SLC25A1 GCH1 SQSTM1 HK1 ABCD1 BICD2 RPS10 CYP7B1 NF1 TARS2 IGHMBP2 SUFU POLR3A PLP1 WASHC5 CACNA1S DNA2 BRAF LTBP4 SRY ALDH18A1 COX20 SYNJ1 NUS1 TK2 AAAS SPG21 KLHL41 SGCG LRP4 PNKP POMT2 MYL2 LRP12 LGI4 DPM3 RPS24 PPARG CPT1C MME KCNJ2 FA2H RPS28 LAMB2 UBA5 FLNB ADGRG1 CHCHD10 RPL18 CRYAB SLC25A21 DOK7 CNKSR2 SLC12A6 DYNC1H1 SLC39A13 GABRA5 SRPX2 SLC25A19 MTAP SGCD CUL7 RPL5 TPM2 ERCC6 RAF1 AMPD1 ATP7B SDHB ACTL6B KIDINS220 PNPLA2 MFN2 DNM1 PHYH FBXW11 GJB1 ORAI1 TSEN2 PRNP CSGALNACT1 ERCC8 PPOX AFG3L2 SPG11 DNM1L VPS37A HNRNPDL NTRK2 MAPT TMEM43 SLC6A3 PODXL CPOX MTPAP REV3L ALG2 TRIM32 ATP6V0A2 MYMK EXTL3 MTMR14 BTD DDC MT-ATP6 PLIN1 GABRB2 RAI1 TIA1 AR LAMA2 SORD SZT2 SLC52A3 STXBP1 RPL35 RPL15 SPAST DARS2 DES MTHFR RPL31 DMD SMCHD1 ARSI NDUFA9 SLC30A9 BAP1 SIGMAR1 POPDC3 FBXO38 TYMP LIPE KDM5C C19orf12 GFPT1 PLEC CLTC DYSF ADAR DAG1 TRIP4 FLI1 PDGFB KCNJ10 FAM126A GATA1 PIGN RPL26 HCN1 CDK19 DKK1 LBR MYH2 POMK SYNGAP1 POU3F4 MPV17 ATP6V1A TSEN54 KCNA1 LMOD3 SLC5A7 EMD ABHD5 HSPB3 FLNC STIM1 POMGNT2 SYNE2 DNM2 ALS2 SELENON LDB3 CFL2 SCO2 INF2 KLHL9 PLOD3 CD59 HADHA FGFR3 MYOT PCCA SGCB SCYL1 TBX3 DNAJB6 ATP1A1 SMO RPL27 AK9 PNPLA6 TERT ANO10 DNAJC6 TRPS1 RASA1 FGF12 SDHD POMGNT1 KARS1 EMC1 RPS17 RRM2B DSTYK PYROXD1 TBX5 COX6A1 COLQ SARDH DDHD2 NCAPD3 ACOX1 ZFYVE26 DALRD3 CLCN1 RAB7A CIDEC DMXL2 GAN PPP3CA SVBP RPL35A KBTBD13 COL6A2 HACD1 AP3B2 RPS7 VMA21 RAPSN ALG14 MATR3 TCAP ERLIN2 RARS1 HSPD1 KIF1B SMN1 FRG1 MARS1 SLC52A2 DMPK SLC13A5 PLXND1 COL6A3 DPAGT1 HOXA13 HSPB8 KAT6A RPS26 CYFIP2 WWOX PEX7 COG4 CAV1 MAP3K7 CACNA1B TSEN34 FKTN ALX3 RPS29 LRSAM1 OPA1 PABPN1 MYO9A LMX1B HMBS DHX16 EEF1A2 NGLY1 PARS2 EBP VHL PI4KA COA7 BVES USP8 FRMD4A MTTP RPS27 PIK3CA MYH14 MT-TE PCCB NIPA1 PLOD1 RBM8A SLC25A4 DHDDS COL12A1 HP_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_AMYOTROPHY MATR3 SPG11 REEP1 ANO5 FXN TRPV4 CAV3 BSCL2 HSPB1 GARS1 SQSTM1 KAT6A VCP KY PDK3 DCTN1 ACTA1 HINT1 KANSL1 SLC25A21 ADSS1 TIA1 FLNC GDAP1 RYR1 SLC39A13 ALS2 NGLY1 SLC52A3 LDB3 CPLANE1 HK1 SVBP MYH7 INF2 KLHL9 PLOD3 CYP7B1 NEFH CEP126 KIF5A DYSF HARS1 GJB1 MORC2 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET SCN9A MMP14 NOTCH2 LMNA MMP2 KIF1A RETREG1 ZMPSTE24 COL3A1 WNK1 MAFB HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET LMBR1 INPP5E TBX1 ARMC9 EVC DYNC2I2 WNT5A CEP41 SMO TMEM216 DYNC2H1 CSPP1 ABCA12 MKS1 PDE6D DDX59 TMEM231 CD96 EXTL3 RAB23 COMT IFT140 LETM1 MKKS RPGRIP1 UFD1 B9D1 EBP BBS1 OFD1 PORCN CEP55 KIF7 TCTN1 CC2D2A CPLX1 SEC24C TCTN2 FGFR2 DYNC2LI1 FAM149B1 BMP4 CCDC28B IFT172 NSD2 DHCR7 SC5D HOXD13 RREB1 KATNIP B9D2 CPLANE1 KCNAB2 PRDM16 RPGRIP1L PIK3CA DYNC2I1 SETD5 HIRA CEP120 IFT80 GLI1 TFAP2B KIAA0586 NPHP3 GLI3 TTC21B EVC2 TMEM107 TMEM237 ZSWIM6 PRKACB ZNF423 KIAA0753 TMEM138 CIBAR1 NEK1 CTBP1 GP1BB TMEM67 ARVCF PITX1 WDPCP ARL3 FGFRL1 DVL1 ARL13B SKI PLAA PIBF1 SMOC1 PPP2R3C C2CD3 AHI1 BBS2 GABRD WDR19 KIAA0825 TCTN3 SHH ROR2 ARL6 LBR CEP290 JMJD1C CEP104 RERE HYLS1 MEGF8 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS LMBR1 NOG GDF5 GLI3 MYH3 CHSY1 FBLN1 BHLHA9 SALL1 TPM2 FGFR2 FGFR1 MAP3K7 TNNI2 ATP7A POR NALCN SMOC1 FGFR3 MKKS BMPR1B FGF9 FLNA TNNT3 FLNB TBX4 GDF6 OFD1 HOXD13 HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE POLG SLC25A10 SUCLG1 POLG2 SLC25A4 RRM2B TYMP TWNK TK2 HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON ACTB IKBKG DHODH ANKRD11 PUF60 RUNX2 SKI GPC3 TBX6 NIPBL GPC4 GATA6 RBM8A SIX6 MAF SON SUFU SOX2 ANK1 IFT57 PAX3 PTCH1 ZBTB16 PTCH2 MTX2 HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY RNASEH2B STAT1 ADAR PKD1 BRCC3 GUCY1A1 MAT2A PCSK9 PCNT RNASEH2A TGFBR2 PDGFRB MYH11 COL4A1 APP PRKG1 FARSB ABCG5 RNF213 COL5A2 SAMHD1 COL3A1 ENG PRKAR1A ACTA2 GGCX BICC1 NF1 LDLRAP1 LDLR THSD1 SMAD4 GANAB TGFBR1 MFAP5 LOX ABCG8 BGN PIGA TREX1 HTRA1 PDGFB SMAD3 COL1A1 NDE1 GAA FOXE3 TGFB2 PLOD3 ANGPTL6 ELN RNASEH2C COL5A1 TGFB3 PKD2 TGFBR3 SLC20A2 APOB FBN1 MYLK IFIH1 HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES ABCC6 ENPP1 EBP DDR2 KIF22 HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER PITX1 SLC29A3 GJA1 PIGL FBXW11 HOXD13 AUTS2 LIFR CTCF ZDHHC9 HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS CPLX1 FGFRL1 SALL1 NSD2 CTBP1 RPS6KA3 LETM1 PCNT HP_DEVIATION_OF_THE_4TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_4TH_FINGER KCNJ11 ABCC8 PIK3CD IHH SNRPN KNSTRN HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY GDF5 COL2A1 FGFR2 CHSY1 TWIST1 HP_DEVIATION_OF_THE_3RD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_3RD_FINGER FGF10 PTRH2 FGFR3 PIK3CD DLK1 IHH RTL1 PKDCC FGFR2 GDF5 KNSTRN MEG3 HP_APLASIA_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_FINGERS LMNA WNT7A FGF10 FGFR2 FANCE NIPBL FANCA SF3B4 SHH SALL4 TBX5 SLX4 RPS24 GATA1 RFWD3 FANCI TSR2 RPL26 CHD7 RSPO2 DOLK DLX5 SON RPS26 RPS28 RPS17 RAD51C FANCL ZBTB16 RPL11 RPS19 RPS29 RPL18 PORCN RECQL4 RIPK4 TRIO VAC14 SMOC1 GJA1 MEGF8 FANCD2 FIG4 WNT10B BHLHA9 ADA2 RPL5 RPL35A ERCC4 RPS10 ESCO2 FANCB NEK1 PSMD12 RPL35 RPL15 FGFR3 RPS7 FANCC RPL31 RPS27 RPS15A LMBR1 SEMA3E BMPR1B RPL27 HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER PTRH2 TGDS GDF5 BMPR1B HOXA13 BMP2 HP_ULNAR_DEVIATION_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_FINGER SLC26A2 BCR WNT7A RAB3GAP2 PAX3 TNNI2 MYMK CRKL TPM2 MYH3 NALCN LIFR SALL1 HOXA13 BMP2 FBN2 GDF5 TNNT3 BMPR1B DACT1 CD96 MAPK1 TGDS HRAS MYBPC1 DHCR7 KLHL7 ASXL1 SHOX PTRH2 TBX22 RAB3GAP1 HOXD13 HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER TGDS GDF5 BMPR1B CANT1 IHH BMP2 FLNA HP_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_2ND_FINGER TGDS PIK3CD CANT1 CHSY1 GDF5 KNSTRN HOXA13 BMP2 FLNA PTRH2 MED12 BMPR1B CSGALNACT1 IHH OPA3 MED25 HP_JOINT_CONTRACTURE_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURE_OF_THE_HAND NOD2 FLNA HES7 NALCN DOK7 COL2A1 FGFR3 MED12 PEX5 CAV1 FBN2 CCR6 KIAA0319L TNNI2 WNT5A SH3PXD2B FGD1 IRF5 MAFB TPM2 SKI ACTA1 PIEZO2 XYLT1 ASXL1 AMER1 SUZ12 MAP3K20 TGFBR1 TRPS1 SRCAP NUP133 FKTN PSMB8 MEG3 COL6A3 TBX15 HSPG2 MEGF10 DLK1 HOXD13 NAA10 ARID1B IKBKG ZMPSTE24 TPRKB POR COL11A2 PRG4 FGFR2 SMAD3 ALG3 KIF5A COL6A2 LAMB3 TGFBR2 EZH2 GPC3 ORC4 DYRK1A ERCC2 BCR ROR2 LAMA3 TBR1 ANO5 AUTS2 LIFR ITGA7 DDR2 ALX1 COL11A1 MYH3 CLCF1 ERCC6 CDC6 GTF2H5 MUSK ITGB4 ERCC5 UPF3B CDH3 PTRH2 DVL3 HINT1 MMP2 NOG TGDS ORC1 DHCR24 TP63 IDUA SMOC1 COL12A1 WDR4 CCBE1 FLVCR1 SETD2 NUP88 MYOD1 MBTPS2 SELENON FBN1 DVL1 CDT1 PHGDH L1CAM SMARCAD1 SHH ADAMTSL2 ERCC1 KDM5C KCNK9 WDR73 TMEM70 TBX3 FZD2 COL6A1 CRLF1 CHRNG GMNN PEX6 PAX3 ERGIC1 BCOR ADAMTS3 SCARF2 PITX1 UBA1 CUL4B CHST3 NXN LMBR1 COG5 TUBB3 GPKOW PLEKHG5 MYBPC1 SMC1A EED IDS MESP2 SMG9 GPC4 ALX3 MED25 CTDP1 SLC29A3 GJA1 IL6ST CRKL UROS GDF5 RTL1 APC2 NLRP3 PIGL TNNT3 PQBP1 TWIST2 CTCF CANT1 DHODH RAB23 SLC26A2 LARGE1 TP53RK MAPK1 HACD1 KCNAB2 PRDM16 IGHMBP2 POLR3A RIPPLY2 ORC6 ACTG2 HLA-DRB1 ADAT3 FERMT1 DLL3 TCTN3 RAPSN TPM3 MYL2 SLC35A3 LMNA C19orf12 ZDHHC9 GLI3 SLC35A2 NSD1 FAT4 FHL1 LAGE3 CAPN3 CCN2 OSGEP MAP3K7 TRPV4 SLC16A2 BMP4 EFNB1 CDC45 KAT6B SLC18A3 GABRD SLC39A13 LAMC2 PEX1 COL17A1 OCRL ANTXR2 RTTN PORCN LFNG CCN6 EMG1 KLHL7 FBXW11 CNTN1 NUP107 MORC2 RERE SVIL ECE1 HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND ABL1 KDM1A CLIP2 SALL4 UBR1 PUF60 BUB1B NALCN POLA1 ADGRG6 WNT5A DHPS FBN2 ATRX IFT122 SF3B4 KIAA1109 FGFR3 NOG SHANK3 RB1 BRCA1 ZFPM2 KMT2A TBX1 BICD2 CEP152 TPM2 BPTF PIEZO2 MLXIPL CREBBP TRPS1 FGFR2 LIG4 RBBP8 HDAC8 GLI3 TBC1D24 GDF1 TBX15 CLCF1 PAX3 CENPJ GTF2I DHCR7 SETBP1 PIK3R1 COL9A2 FANCM COL9A3 TNNI2 BCOR NPR2 SEMA3E LMBR1 RAB3GAP1 OFD1 HOXD13 SOS2 B3GLCT MECOM FGF10 TELO2 SRCAP TBL2 DLX3 IGF1 DEAF1 GDF5 GATA4 MAN1B1 ALX1 CEP55 XRCC2 SOS1 SPECC1L SMC1A CCNQ MAFB ABCC8 CDC6 ACVR1 MUSK GATA5 MAP3K7 HERC2 MYOD1 COMP MASP1 BRAF KCNK4 C12orf57 ORC1 PWAR1 TRIO SHMT2 SLC26A2 LIMK1 XRCC4 EVC SALL1 CCDC8 CDT1 IGF2 CKAP2L COG7 PLK4 ARL6 LBR ODC1 MRAS CENPE FZD2 NPAP1 EBP RAD51 CRIPT MBD5 SMC3 KIF7 SNORD116-1 SHH IGF1R PCNT TP63 PI4KA MAP2K1 YWHAE GPC4 RBM8A SIN3A TMEM216 TGDS EIF4A3 TMEM94 FANCD2 COG5 BMPR1B HRAS HMGA2 COG8 MKRN3 SNORD115-1 MADD KLF13 KPTN MYH3 CD96 ALX3 MED25 DYM CRKL BUB3 PKDCC CHRNA7 CHST11 PIGS BMP4 WDR19 PIGL WIPI2 ZEB2 TNNT3 PQBP1 HOXA11 RPL10 CTCF RAB23 MAPK1 KCNAB2 L1CAM DONSON KRAS PAFAH1B1 ERCC4 TFAP2B PIGH FLT4 MYCN EFNB1 AKT1 NONO RUNX2 NSUN2 AMMECR1 CANT1 FGD1 CDC42 IHH USP7 OBSL1 KCNJ2 DVL1 EVC2 GJA1 FANCC KCNJ11 FLNB BMP2 TRPV4 NDN UBE3A RRAS OPA3 PPP2R1A KAT6B ELN STAG1 GABRD SPOP RIT1 FLNA TRIP13 CUL7 EMG1 UBE2T MACROH2A1 DPAGT1 ZC4H2 MAD2L2 TCTN3 KNSTRN RAD21 CNTN1 TRAPPC9 CSGALNACT1 PACS1 RERE FANCB SNRPN RAB18 TCF4 CHSY1 MGAT2 HOXA13 REV3L MKS1 RRAS2 PHF21A SH3PXD2B NRAS RASA2 ATRIP PIGN RNU4ATAC FLII XYLT1 ASXL1 SLX4 AMER1 ATR MAPK8IP3 WDR35 KAT8 BUB1 RAI1 LEMD3 ANKRD11 GJA5 RAB3GAP2 JAG1 SOX6 ZNF462 FAM149B1 GTF2IRD1 PITX1 NEK9 VPS13B SLC9A7 NAA10 ARID1B IKBKG PTEN ESCO2 CPLANE1 TRRAP RFC2 PALB2 RBM28 PDE6D ZIC3 AFF2 PEX1 EZH2 NIN GPC3 ORC4 BCR SNRPB PIK3CD LIFR A2ML1 FANCI KIAA0753 ALG9 ATN1 COL11A1 RAF1 SMAD4 PRKDC MED12 PACS2 SETD5 DSP KDM6B TCF20 CNOT3 EXT2 PTPN11 RAD51C PTRH2 DVL3 SLC2A10 SKI MCTP2 BRAT1 PTH1R COL9A1 FANCE IQSEC2 PHGDH NKX2-5 SATB2 ROR2 MAF NEK1 SMOC1 MAGEL2 CTU2 TRAIP CBL STAG2 TBX22 MAP1B DLK1 YY1AP1 GMNN WNT7A CNOT2 NIPBL RSPRY1 CRLF1 SOST TWIST1 UBA1 CUL4B CHST3 SHOX GATA6 NXN H19 MYBPC1 TBX5 BBS1 BRIP1 CILK1 IFT43 SAMD9 MYMK EFTUD2 BGN NKX2-6 MOGS CCDC28B MEG3 PRDM16 RTL1 LONP1 TFAP2A CEP57 ORC6 WDR4 BLM FANCF PRKACB PLXND1 RNF216 NUP37 EP300 CHD7 DOK7 BRCA2 DACT1 PWRN1 IFT52 PNPLA6 HDAC4 BHLHA9 TBX4 BAZ1B CDC45 LMX1B LMNA FANCL PTF1A PLAG1 HPGD LZTR1 RFWD3 FANCG FANCA CDKN1C KLHL7 CITED2 HIC1 UBE3B HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND FGF10 NOG SALL4 SLC26A2 CANT1 CHSY1 FGFR2 IGF1R FGD1 PITX1 WNT5A CRLF1 MAP2K1 ATRX IFT122 SF3B4 BMPR1B IHH SMAD4 MKS1 MED12 SIN3A PWRN1 CD96 EIF4A3 FGFR3 DVL1 PTPN11 BCOR HERC2 TRPV4 MKRN3 SNORD115-1 TGDS NDN BRAF BBS1 ALX3 ESCO2 PWAR1 SAMD9 ANKRD11 COL9A1 GLI3 BGN BMP2 FLNA CLCF1 CCDC28B PIK3R1 COL9A2 IGF1 PHGDH NAA10 ZC4H2 COL9A3 OFD1 CPLANE1 ROR2 ARL6 MAGEL2 NPAP1 GDF5 FLNB SNORD116-1 EZH2 SNRPN HP_RADIAL_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_HAND PITX1 EIF4A3 SAMD9 SALL4 COL9A2 COL9A1 GLI3 ZC4H2 COL9A3 BGN HP_ULNAR_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_HAND LBR MUSK FLNA COL9A1 MAP3K7 RBM28 ADGRG6 COMP PAX3 ZEB2 ALG9 COL9A2 PEX1 CILK1 COL9A3 MAFB HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER BMPR1B COL2A1 RUNX2 HOXD13 GDF5 MYCN TWIST1 BMP2 INTU KIF15 BHLHA9 FGFR2 HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER BMPR1B RUNX2 HOXD13 GDF5 MYCN BMP2 INTU BHLHA9 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER BMPR1B COL2A1 RUNX2 HOXD13 MYCN BMP2 INTU KIF15 BHLHA9 GDF5 HP_ABNORMALITY_OF_THE_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HAIRLINE MEOX1 KDM1A APC PPARG SMPD4 CDH1 AEBP1 CPOX FGFR3 RRAS2 DOCK7 NRAS ZIC1 RASA2 FGD1 TSR2 TRMT10A PHF8 DOCK6 MEIS2 GDF6 MAPK1 ASXL1 MID1 SLC35C1 NANS SMC1A LIG4 CPLX1 TBC1D20 RAB3GAP2 HDAC8 TBC1D24 NSD1 NOTCH3 ARID1A NSD2 ADA2 VPS13B SLC9A7 THOC6 KCNJ8 CCDC22 RPL35 RPL15 SETD5 BSCL2 RPL31 VPS51 RAB3GAP1 XYLT2 KCNH1 FRAS1 SOS2 TSC1 SRCAP PIK3CD ALDOA NRXN1 IGF1 A2ML1 MAFB ALX1 SOS1 RAF1 SPECC1L GATA1 ADNP NELFA RPL26 CNOT3 PPP1R15B MAP3K7 PTPN11 FRMD4A INSR CDH2 BRAF SHOC2 ACTB NBN WASHC5 XRCC4 CNTNAP2 ANKRD11 SETD2 TMCO1 NEPRO CHST3 MYH3 CAVIN1 TBX2 UBE2A FGFR2 INTU KCNN3 COG7 POLR1B BRCA1 MRAS IRX5 RPS15A CBL STAG2 SMC3 MAB21L1 MAP2K2 CHRNG RPL27 PEX6 SH2B1 NOVA2 PACS1 TBX15 NIPBL POLR1C HSPG2 MAP2K1 GDF3 TWIST2 ABCC9 TWIST1 SIN3A NFIX KRAS LETM1 SPRED1 EMC1 COG5 IFIH1 RPS17 DLX4 MADD RPL11 CCNK LRP2 RPS19 ALX3 SMARCA2 TECPR2 CAV1 ERMARD ACTG1 B3GAT3 APC2 PEPD SVBP RPL35A RPS10 RPS7 KMT2A ATP6V1B2 TFAP2A PPP1CB PIGK RERE AGPAT2 SALL4 EFNB1 SRY PEX19 SLC25A24 NSUN2 TAF6 MAN2B1 MED13L KREMEN1 HUWE1 EP300 CTBP1 RPS24 TCF12 FGFRL1 TCOF1 RPS26 RPS28 CHN1 CREBBP SMARCE1 DPM2 RALGAPA1 RPS29 RPL18 RRAS NOTCH2 FOS SLC12A6 PIK3C2A NF1 RIT1 PEX1 SYT1 LZTR1 RPL5 ADARB1 POLR1D GNE CWC27 AIFM1 TBL1XR1 UGP2 RPS27 LRPPRC KNSTRN KLHL7 ZC4H2 RAD21 ARX MYO18B SMARCD1 SPOP RAB18 WNT4 HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER GDF5 RUNX2 MYCN HOXD13 INTU HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE KARS1 PRKAR1A NF2 DKK1 COCH HRAS PRNP HP_ASTROCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOMA TSC1 APC IFNG SETD2 BRCA2 CDKN2A APC2 MLH1 PMS2 MSH6 NSD1 MSH3 TP53 POT1 ERBB2 MDM2 TSC2 NF1 CHEK2 NF2 IDH2 IDH1 HP_RETINAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HAMARTOMA SDHD CCND1 TMEM127 SDHA IFNG MAX VHL SLC25A11 SDHAF2 FH MDH2 NF1 TSC1 TSC2 RET PTEN SDHB SDHC NF2 AKT1 DLST KIF1B HP_FLEXION_CONTRACTURE_OF_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_THUMB DLK1 RTL1 L1CAM BMP4 MEG3 ECE1 HP_APLASIA_HYPOPLASIA_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB KDM1A LMBR1 SALL4 NOG BMPR1B FGFR2 FANCE PCNT TP63 RECQL4 FANCA HOXA13 MIR17HG SF3B4 LMNB2 SHH REV3L TBX5 SLX4 RB1 SIN3A FZD2 FANCI TSR2 APC LETM1 MGP ACAN RSPO2 EIF4A3 RPS17 FLNA BRCA2 RPL11 VPS35L RPS19 RPL26 FGFR1 RIPK4 LIG4 CPLX1 HDAC8 BRIP1 PKDCC FIG4 CHST11 WIPI2 NSD2 DHCR7 SETBP1 SVBP FBN1 ADA2 NIPBL RPL35A MEG3 ERCC4 RPS10 BCOR FANCB PSMD12 ESCO2 RPL35 RPL15 RPS7 KMT2A FANCC RTL1 RPL31 TFAP2A MYCN PTCH1 SEMA3E IHH UBE2T KCNH1 FRAS1 GDF5 FGF10 PALB2 NSUN2 DHODH PIK3CD CANT1 PLXND1 ADAMTS10 MAFB CTBP1 RPS24 GATA1 SMC1A RFWD3 NELFA LTBP2 SETD5 CHD7 FGFRL1 LRP4 SON SUFU RPS26 RPS28 CHN1 ATP6V1B2 RAD51C MAP3K7 FANCL ZBTB16 RPL5 RPS29 BHLHA9 RPL18 TRIO VAC14 COL2A1 FANCD2 ACVR1 FGFR3 RPS27 KNSTRN RPS15A RAD21 PTCH2 DLK1 SMC3 RPL27 HP_DEVIATION_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_THUMB B3GLCT SLC26A2 MGAT2 NIPBL HOXA13 TP63 CDC42 HDAC8 NOG UBA1 SIN3A SMC1A SETD5 EIF4A3 SMC3 PTRH2 ANKRD11 FGFR2 SHMT2 FLNA GATA4 EFTUD2 ZNF462 CHSY1 BMP4 DHCR7 BRCA1 ESCO2 KMT2A LONP1 TFAP2A RRAS2 ZC4H2 ZIC3 RAD21 CRIPT FLNB FANCB HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB PAH BMPR1B GDF5 CANT1 KIF7 LMBR1 PPP2R3C HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB SLC26A2 FGFR2 GNAS SALL4 BMPR1B PIK3CD FLNA CANT1 CHSY1 GDF5 GLI3 EP300 IHH HOXD13 SUFU LMBR1 GLI1 KNSTRN CREBBP PTCH1 MAP3K7 PTCH2 PAH FLNB KIF7 KCNH1 PPP2R3C CWF19L1 HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB FGF10 IHH FGFR3 BMPR1B PQBP1 CHSY1 FGFR2 RAB23 HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB FGF10 IHH FGFR3 BMPR1B FGFR2 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB PTCH1 MAP3K7 PTCH2 SALL4 BMPR1B PIK3CD FLNA SUFU KNSTRN HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB GDF5 FGF10 NOG SALL4 BMPR1B PIK3CD CANT1 FGFR2 HOXA13 FZD2 PCNT IHH SHH SMC1A SETD5 FANCI SUFU CNOT1 MAP3K7 VPS35L TRIO SETBP1 VAC14 HDAC8 FLNA FANCD2 FIG4 ACVR1 NIPBL MEG3 FGFR3 KMT2A RTL1 KNSTRN PTCH1 RAD21 LMBR1 PTCH2 DLK1 SMC3 KCNH1 HP_PARTIAL_ABSENCE_OF_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ABSENCE_OF_THUMB FGF10 LMBR1 FGFR3 SHH FGFR2 FANCD2 TRIO FIG4 VAC14 HP_SHORT_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHALANX_OF_THE_THUMB GDF5 HDAC8 NOG SALL4 BMPR1B PIK3CD FLNA CANT1 HOXA13 FZD2 PCNT ACVR1 SETBP1 IHH NIPBL SMC1A MEG3 SETD5 FANCI KMT2A SUFU RTL1 KNSTRN PTCH1 MAP3K7 RAD21 VPS35L PTCH2 DLK1 SMC3 KCNH1 HP_CARPAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_SYNOSTOSIS FGFR2 HOXD13 SALL4 NOG B3GALT6 EVC PAX3 RECQL4 HOXA13 MAP3K7 ROR2 GDF5 APC LRP4 FGFR3 NXN BMPR1B COL11A2 FLNA FLNB BHLHA9 CHSY1 FBLN1 MYH3 PITX1 MACROH2A1 EVC2 POR ESCO2 SMOC1 DYNC2LI1 GLI1 ATP7A RBM8A HP_CHILBLAINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILBLAINS TREX1 RNASEH2B ADAR RNASEH2A SAMHD1 RNASEH2C IFIH1 HP_ABNORMALITY_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIDIDYMIS BTK CCND1 SRCAP DHH HNF1B PSMB8 VHL CREBBP EP300 NKX3-2 HNF4A UNG HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS CCND1 EP300 HNF4A HNF1B VHL CREBBP HP_ADENOMA_SEBACEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMA_SEBACEUM PTEN TSC1 SDHB KLLN SDHD IFNG MLH1 MSH2 NRAS MSH6 TSC2 KRT17 AKT1 MEN1 SDHC SEC23B PLCD1 USF3 HRAS KRAS PIK3CA HP_SHAGREEN_PATCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHAGREEN_PATCH TSC1 TSC2 IFNG SLC25A24 PTEN HP_DENTAL_ENAMEL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_ENAMEL_PITS TSC1 ITGB4 DLX3 COL17A1 AMBN ITGB6 HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION TSC1 CARD14 IFNG COL7A1 MBTPS2 ATP2A2 KRT17 TSC2 TRPV3 SLURP1 HP_BLADDER_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_NEOPLASM BUB1 HRAS AKT1 MCC FGFR3 NTHL1 PDGFRL AXIN2 AURKA CCND1 SRC RNF43 FLCN DLC1 KRAS PTEN DCC PLA2G2A RAD54B TP53 CTNNB1 APC AAGAB BUB1B TLR2 PIK3CA PTPN12 EP300 RB1 BAX COL14A1 MLH3 PTPRJ ATP7A NRAS HP_NEOPLASM_OF_STRIATED_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_STRIATED_MUSCLE DICER1 TSC1 NBN KEAP1 MC1R IFNG BUB1B BUB3 SOX6 TRIP13 PAX7 NRAS MLH1 CDKN2A FOXO1 PAX3 SLC22A18 SUFU TP53 MDM2 TSC2 CEP57 PTCH1 NF1 PTCH2 CHEK2 BUB1 HRAS HP_CARDIAC_RHABDOMYOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_RHABDOMYOMA TSC1 PTCH1 PTCH2 IFNG SUFU SOX6 TSC2 HP_CEREBRAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HAMARTOMA TSC1 KIF7 GCDH CPLANE1 TMEM216 IFNG GLI3 SOX2 TCTN3 TSC2 PDE6D FAM149B1 KIAA0753 SMO OFD1 SIX6 HP_GLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOMA TSC1 MLH3 APC CDKN1B PIK3CA CDKN1A NBN BRCA2 CDKN2A C11orf95 RELA MLH1 PMS1 TGFBR2 MSH6 PMS2 KRAS NSD1 CDKN2C CHEK2 LRP5 TSC2 NF1 TP53 IDH2 IDH1 IFNG FAN1 SETD2 CDKN2B RPS20 APC2 MSH2 SETBP1 MEN1 MSH3 POT1 ERBB2 MDM2 SEMA4A BMPR1A SMO NF2 EPCAM HP_ABNORMALITY_OF_THE_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTIHELIX KAT6B RAB3GAP2 RBM10 NSUN2 EVC NUP188 SALL1 XYLT2 PAX1 FGFR3 TRIO FGFR2 TWIST1 WAC FLNA EVC2 PIGN KAT6A EFTUD2 AP4E1 KCTD1 SLC16A2 EYA1 FOXG1 GLI2 TOR1A RAB3GAP1 CREBBP LIG4 HP_LARGE_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_EARLOBE SLC26A2 EFTUD2 EIF2S3 BRAF SMOC1 UGDH CDH11 HRAS NOTCH2 PIGY VPS53 ZEB2 PHF6 DHCR24 FGD1 ELN PIK3CA MLXIPL SETBP1 GJA1 DOCK7 HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE TBX5 MYMK REV3L PLXND1 TBX3 HP_ANKYLOBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOBLEPHARON FREM2 RAX IRF6 RIPK4 ERCC5 TP63 ERCC4 BCOR XPC DDB2 ERCC3 ERCC2 XPA NAA10 HP_POPLITEAL_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POPLITEAL_PTERYGIUM IRF6 MYH3 GPC6 CHRNG RIPK4 BHLHA9 HP_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_PAIN COMP MME ERLIN1 PRKRA COL9A1 KRT17 HMBS SPG7 MFN2 TGFB1 COL9A2 CPOX COL1A1 RASA1 KRT16 VHL FLI1 ALDH18A1 COL9A3 COL2A1 MATN3 BSCL2 COL5A2 MT-TK ACP5 COL5A1 KRT6B NLRP12 MT-ATP6 KRT6A TREX1 HP_LOW_HANGING_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_HANGING_COLUMELLA GJA1 ITCH RAC1 MGAT2 ZEB2 CTNNB1 CREBBP ATN1 EP300 UBE2A PQBP1 ZMIZ1 TRIO THOC6 KAT6A AIMP2 ASXL3 ZNF148 NOG CKAP2L KDM3B CDH11 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND COMP PIGW SALL4 BMPR1B PUF60 RPS6KA3 HHAT SOX4 PGAP3 NOG XYLT1 WNT5A HOXA13 ARSL IFT122 KCNH1 SHH DMD NHS ARID2 KDM6A PIGV GDI1 FZD2 FANCI EXTL3 MGP PIGN SLC26A2 MTOR PIGL ARID1B PIEZO2 EOGT LMBR1 KIF15 NOTCH1 WDR35 TRPS1 RIPK4 FLNB HDAC8 FLNA TBC1D24 ADAMTS2 RBPJ ARHGEF6 MEGF8 BMP2 INTU ARID1A SETBP1 HOXD13 COL10A1 KCNJ8 PDE4D COL2A1 CCDC22 EVC MYCN DPYS GLI1 DLG3 TGFBR2 IFT140 NIN FRAS1 DDR2 GDF5 LMNA KDM5C BCR ROR2 PDE3A MECOM FGF10 PIK3CD RAB3GAP2 GPC3 LIFR GPC4 ZMPSTE24 UPF3B SMARCE1 SMC1A SETD5 PHF6 ARHGAP31 SUFU PTHLH GPX4 USP9X CNOT1 SMARCA4 GGCX IQSEC2 COG4 CTSK IHH SMARCB1 MCTP2 TRIO VAC14 DVL1 PTDSS1 ANAPC1 FGFR3 CLCN7 RUNX2 NEPRO GATA1 ACVR1 MED12 KCNN3 ACSL4 PRKAR1A FGFR1 NFIX GMNN LBR IFT52 TBX3 CRIPT PTCH2 FBN1 FGFR2 DLK1 DVL3 SMC3 RBBP8 WNT7A RECQL4 DLL4 PIGB PCNT MIR17HG DPF2 ABCC9 ZNF81 PGAP2 CHST3 PAK3 EIF4A3 HDAC4 NXN VPS35L SYP MECP2 PORCN JAG1 SMARCA2 MID2 GJA1 SOX11 IFT43 CRKL EIF2AK3 PIGO FIG4 BGN CHST11 PIGS ACTL6B WDR19 AGTR2 ZNF711 TRPV4 SMARCD1 NIPBL MEG3 RAB23 MAPK1 CNKSR2 PIGY KMT2A RTL1 DYNC2LI1 SLC25A24 LONP1 ZBTB20 IFT57 PTCH1 DNMT3A TFAP2B CLCN4 ALG13 CANT1 ZNF41 DYM TRIP11 PTCHD1 TSPAN7 RAB39B KAT6B SOX9 DOCK6 SLC9A7 KCNJ2 ACP5 FRMPD4 MAP3K7 KMT2D USP27X ARX BHLHA9 CXorf56 NOTCH2 BMP4 EDA2R SLC39A13 FANCD2 IL11RA SH3PXD2B IGF2 EVC2 SMARCC2 IL1RAPL1 COL11A2 CWC27 FTSJ1 KNSTRN EDA HCFC1 PTH1R RAD21 STAMBP NPR2 TP63 RAB33B RBM8A POC1A HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND PTDSS1 NOG FGFR2 CHSY1 BMPR1B GDF5 BHLHA9 MYH3 IHH PQBP1 FGF9 SLC26A2 TFAP2B HOXD13 MYH8 CHRNG HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND SALL4 BMPR1B GJA5 GLI3 CHSY1 FANCE XYLT1 WNT5A SMO HOXA13 SF3B4 SHH FGFR3 NOG SUMF1 BRCA1 FZD2 FANCI TSR2 RAB23 MEIS2 LMBR1 MYT1L GDF5 SLC26A2 KIF15 SLX4 SUZ12 TRMT1 ACTL6B NUP107 FGFR1 SRCAP FGFR2 LIG4 FANCB GJA8 FBXW11 FLNB HDAC8 TBC1D24 FLNA RPL15 MEGF8 MED13 BMPR1A BMP2 INTU RPS19 SETBP1 PTEN FANCM ADA2 NAA10 ACTL6A TANC2 RPL35 PALB2 FANCC RPL31 MYCN KIF7 EP300 KCNH1 UBE2T BPTF EZH2 GPC3 DDR2 ROR2 FGF10 OTUD6B PIK3CD DOCK3 DDX6 MAFB GPC4 XRCC2 MED12 GATA1 SMC1A NXN SETD5 RPL26 DLX5 ACAN SUFU CNOT1 RAD51C PYCR2 CREBBP IHH RPL5 ALX4 TRIO MSX2 VAC14 DVL1 SHMT2 COL2A1 SALL1 RUNX2 NTNG1 TCF20 CHST3 ACVR1 ATP6V1B2 KCNN3 SNIP1 SATB2 SMOC1 RPS15A RAD51 PTCH2 ZMIZ1 DLK1 DVL3 SMC3 RPL27 BCOR PIGB PCNT FANCA TBX5 TWIST1 RBM8A USP9X KMT2E FANCD2 RLIM GNAS GLI1 RPS17 EED RPL11 VPS35L BRIP1 SVBP FIG4 ACTG1 B3GAT3 PSMD12 PQBP1 NIPBL HOXD13 RPL35A MEG3 RPS10 ACTB ESCO2 RPS7 KMT2A RTL1 PTCH1 ERCC4 FANCF NSUN2 CANT1 EXOSC2 RPS24 BRCA2 DACT1 G6PC3 RPS26 RPS28 CHN1 MAP3K7 ADNP RPS29 RPL18 PPP2R3C BCORL1 GATA4 NSD1 PUF60 FANCL PRKD1 BHLHA9 RFWD3 FGF9 FANCG MAD2L2 RPS27 KNSTRN WDFY3 RAD21 PAH TP63 TRAPPC4 INPPL1 PACS1 CWF19L1 HP_ABSENT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMB FANCE FANCA SF3B4 SALL4 TBX5 SLX4 RPS24 GATA1 RFWD3 FANCI TSR2 RPL26 RSPO2 SON RPS26 RPS28 RPS17 RAD51C FANCL ZBTB16 RPL11 RPS19 RPS29 RPL18 RIPK4 VAC14 FANCD2 FIG4 RECQL4 ADA2 RPL5 RPL35A ERCC4 RPS10 FANCB PSMD12 RPL35 RPL15 RPS7 FANCC RPL31 RPS27 RPS15A RPL27 HP_SHORT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THUMB KDM1A SALL4 NOG BMPR1B FANCE PCNT FANCA HOXA13 MIR17HG LMNB2 SLX4 SIN3A FZD2 FANCI TSR2 APC LETM1 MGP ACAN EIF4A3 RPS17 FLNA BRCA2 RPL11 VPS35L RPS19 CPLX1 HDAC8 BRIP1 PKDCC CHST11 WIPI2 NSD2 DHCR7 SETBP1 SVBP FBN1 ADA2 NIPBL RPL35A MEG3 RPS10 BCOR PSMD12 RPL35 RPL15 RPS7 KMT2A FANCC RTL1 RPL31 TFAP2A MYCN PTCH1 SEMA3E IHH UBE2T KCNH1 RECQL4 GDF5 PALB2 DHODH PIK3CD CANT1 ADAMTS10 CTBP1 RPS24 GATA1 SMC1A NELFA LTBP2 SETD5 RPL26 CHD7 FGFRL1 LRP4 SUFU RPS26 RPS28 ATP6V1B2 RAD51C MAP3K7 RPL5 RPS29 BHLHA9 RPL18 ESCO2 COL2A1 FANCD2 ACVR1 RPS27 KNSTRN RPS15A RAD21 PTCH2 DLK1 SMC3 RPL27 HP_PERIANAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIANAL_ABSCESS CYBC1 IL10RA ELANE TGFB1 IL10RB MNX1 HP_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TERATOMA APC2 NSD1 SETBP1 MNX1 SETD2 MSH3 HP_BRANCHIAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_ANOMALY RPL10 BCR MAPK1 SIX5 SIX1 EYA1 CRKL PUF60 HNRNPK TFAP2A POLR1C WAC TCOF1 POLR1D HP_BRANCHIAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_FISTULA SIX1 POLR1C BCR MAPK1 EYA1 CRKL TCOF1 POLR1D HP_BRANCHIAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_CYST RPL10 EYA1 SIX5 SIX1 PUF60 HP_SUPERNUMERARY_SPLEENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_SPLEENS NME8 SPAG1 TMEM107 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 GPC3 CDON DNAH5 TTC25 GPC4 RSPH4A TMEM216 DNAAF5 CTBP1 MYRF MKS1 CCDC151 RFWD3 ARMC4 DNAL1 DNAH11 WDPCP TMEM231 FGFRL1 RAB23 CCDC40 LETM1 DNAH9 TMEM67 RPGRIP1 HYDIN CCDC114 RPGRIP1L CSPP1 CEP55 DNAI2 CC2D2A NPHP3 CPLX1 LRRC56 GDF1 TCTN2 MMP21 DNAAF1 CCDC103 HYLS1 DNAH1 ZMYND10 NSD2 CFAP221 MYCN CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 ESCO2 B9D2 CFAP298 WDR35 LRRC6 DRC1 CEP290 ZIC3 FOXJ1 CFC1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 CENPF DNAAF2 DNAAF3 B9D1 MEGF8 HP_MATERNAL_DIABETES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_DIABETES VANGL2 TGIF1 VANGL1 ERGIC1 ZIC2 SHH DISP1 OTX2 SLC12A3 MTHFR FGFR1 SOX3 GLI2 FOXH1 GJA1 ABCC8 DLL1 PLAGL1 GAS1 KCNJ11 HYMAI NKX2-5 FGF8 PROKR2 PPARG ZFP57 SOX2 CLCNKB PTCH1 SIX3 NODAL ARNT2 COL2A1 HESX1 CDON TDGF1 FUZ SUFU HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND LMNA FGF10 FGFR3 GJA1 FGFR2 MEGF8 FANCD2 FIG4 LMBR1 BMPR1B SHH TRIO VAC14 HP_NEPHROGENIC_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROGENIC_DIABETES_INSIPIDUS VPS33B ARL6 AQP2 CCDC28B AVPR2 VIPAS39 BBS1 HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS NDN COL2A1 STX16 MAGEL2 COL10A1 RPL13 RECQL4 ANAPC1 GNAS PHEX COMP TRPV4 SNRPN MMP13 MMP9 EZH2 HP_ABNORMALITY_OF_UPPER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT NOD2 CLIP2 SALL4 MMP13 SOX4 HES7 RAC3 NALCN NOG ATP7A MED12 EVC XYLT1 PEX5 LARS2 FBN2 SF3B4 RMRP FGFR3 MAP3K7 WNT5A ARID2 BCOR IRF5 KMT2A TPM2 SKI ACTA1 ZIC1 GPC6 PIEZO2 ALDH18A1 MLXIPL MAP3K20 TGFBR1 TRPS1 B3GALT6 CYP2R1 CPLX1 COL12A1 KIF22 HDAC8 FKTN PSMB8 MEG3 TBX15 FBLN1 CLCF1 GTF2I DYM NSD2 SETBP1 ASXL1 COL9A2 MYH7 COL9A3 TNNI2 COL2A1 RNU4ATAC LMNA FN1 TBX22 FHL1 FGFR2 ALG3 UFSP2 LMBR1 GLI1 LAMB3 BPTF HOXD13 SOS2 ROR2 B3GLCT MECOM LAMA3 MIR140 TBL2 DHODH TBR1 LMX1B SHOX AUTS2 GPC3 ITGA7 DDR2 GDF5 ALX1 GLB1 SOS1 SMC1A MAFB POR GNE CDC6 MUSK BMPR1B ERCC5 UPF3B COMP CDH3 MASP1 IHH HINT1 BRAF SHOC2 SFRP4 ORC1 DHCR24 TP63 HRAS PTDSS1 LIMK1 WDR4 NUP88 CCDC8 PTPN11 CDT1 CBL SHH ADAMTSL2 ERCC1 HUWE1 ENPP1 WDR73 NOTCH2 TCF12 COL5A1 TMEM70 MRAS FZD2 SIL1 PCYT1A COL6A1 SMC3 CHRNG PYCR1 PAX3 RECQL4 PLOD2 NIN PCNT FKBP10 MAF HSPG2 MAP2K1 GNPTAB DPF2 TBX5 TRPV4 COG5 TUBB3 LETM1 GPKOW FLNA EED WNT7A MESP2 COL6A3 SMG9 FDFT1 MYH3 GPC4 CD96 ALX3 MED25 SLC39A8 CTDP1 GJA1 IL6ST CRKL GLE1 EIF2AK3 COLEC10 B3GAT3 PSMD12 NLRP3 PTH1R PIGL TNNT3 SMARCD1 PQBP1 HOXA11 TWIST2 CTCF RAB23 PEX2 COLEC11 LARGE1 TP53RK MAPK1 KCNAB2 IGHMBP2 L1CAM POLR3A FLVCR1 RIPPLY2 DONSON KRAS DYNC2LI1 EXOC6B PPP1CB SLC34A3 STXBP1 TFAP2B AIFM1 SRD5A3 EXT2 SRY AKT1 NONO EVC2 DLL3 SIK3 SETD2 MYBPC1 CANT1 MYL2 PIGY COL7A1 TRIP11 MBTPS1 AEBP1 LGI4 ABCC6 MATN3 COL6A2 OBSL1 SLC35A2 KAT6B NSD1 LAMB2 CAPN3 FLNB OSGEP ARID1A B4GALT7 RRAS OPA3 BMP4 ZDHHC9 VDR ELN NF1 LIFR STAG1 GABRD SLC39A13 CLCN5 LAMC2 RIT1 SLC35D1 SPRTN TWIST1 PEX1 OCRL MACROH2A1 SMARCC2 SLC10A7 CCN6 FGF9 EMG1 RAD21 FBXW11 SMARCB1 CNTN1 CSGALNACT1 MORC2 PIK3C2A RERE CHSY1 DOK7 TMEM43 TONSL HOXA13 CAV1 CCR6 KIAA0319L RRAS2 SH3PXD2B NRAS PIGV RASA2 FGD1 EXTL3 APC COL5A2 SELENON SLC26A2 ARID1B CYP27B1 AMER1 SUZ12 NANS RAF1 EXT1 SRCAP NUP133 LAMA2 GTF2IRD1 MEGF10 DLK1 PITX1 COL1A1 VPS13B BMP1 NAA10 IKBKG PTEN EMD ZMPSTE24 TPRKB ESCO2 DMP1 COL11A2 RFC2 HEPHL1 PRG4 SMAD3 KIF5A GJB2 GSC TGFBR2 EZH2 ORC4 DYRK1A ERCC2 ASAH1 BCR ATR ANO5 NUP107 A2ML1 UNC80 COL11A1 ERCC6 SMARCE1 ERLIN2 SETD5 LRP4 GTF2H5 GHR SMARCA4 ITGB4 PTRH2 DVL3 MMP2 TGDS FGF16 IDUA SMOC1 CCBE1 COL9A1 ANAPC1 COL27A1 MYOD1 SYNE2 MBTPS2 CYP26B1 CHST3 FBN1 DVL1 PHGDH SMARCAD1 PLOD3 KDM5C PRKAR1A FGFR1 MYOT KCNK9 TBX3 ECEL1 CRLF1 MAP2K2 GMNN PEX6 ITCH ERGIC1 ADAMTS3 IFITM5 NIPBL RSPRY1 SCARF2 UBA1 CUL4B NXN PLEKHG5 IDS RPL26 GALNS SLC29A3 P4HTM SOX11 UROS RTL1 EBP PSTPIP1 BGN APC2 SLC6A9 CUL7 HACD1 PRDM16 LONP1 TFAP2A ORC6 ACTG2 COLQ HLA-DRB1 KY ADAT3 FERMT1 TCTN3 RAPSN XRCC2 MMP14 TPM3 SLC35A3 EP300 CTBP1 SNRPB C19orf12 GLI3 FGFRL1 FAT4 LAGE3 CREBBP CCN2 TOR1A CPT2 SLC16A2 BHLHA9 PPP2R3C EFNB1 BAZ1B CDC45 SLC18A3 DHX16 COL17A1 ANTXR2 POP1 LZTR1 RTTN DYSF PORCN LFNG KLHL7 SYNE1 NPR2 PLOD1 RBM8A WNT4 SVIL ECE1 HP_ABNORMALITY_OF_THE_ELBOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ELBOW COLEC10 MMP13 SOX4 FGFR3 PTDSS1 PEX5 TMEM43 TONSL LARS2 FBN2 SF3B4 FLNB RMRP WNT5A ARID2 COMP FZD2 CD96 EXTL3 APC COL5A2 KMT2A SELENON TPM2 SKI RNU4ATAC ACTA1 SLC26A2 ARID1B GPC6 ALDH18A1 XYLT1 MAPK1 ASXL1 RAF1 SMC1A MAP3K20 EXT1 NALCN MATN3 B3GALT6 COL12A1 KIF22 NOG HDAC8 FLNA PSMB8 TBX15 LAMA2 CLCF1 DONSON PITX1 COL9A2 COL1A1 VPS13B BMP1 COL9A3 EMD COL2A1 POR ESCO2 BCOR LMNA HEPHL1 FHL1 FGFR2 EVC GLI1 GJB2 GSC PEX1 BPTF EZH2 ORC4 DDR2 ASAH1 B3GLCT MECOM ATR MIR140 LMX1B ANO5 NUP107 SHOX LIFR ITGA7 UNC80 MYH3 ERCC6 SMARCE1 ERLIN2 SETD5 CDC6 LRP4 MUSK GHR MAP3K7 PTPN11 SMARCA4 DVL3 BRAF SHOC2 SFRP4 ORC1 IDUA HRAS EXOC6B COL9A1 COL27A1 SYNE2 CYP26B1 CCDC8 CHST3 FBN1 DVL1 CDT1 CBL ERCC1 PLOD3 PRKAR1A FGFR1 MYOT MASP1 SMOC1 HUWE1 KCNK9 NOTCH2 COL5A1 SIL1 TUBB3 PCYT1A ECEL1 COL6A1 MED12 SMC3 GDF5 MAP2K2 GMNN PYCR1 WNT7A ITCH CHRNG PLOD2 IFITM5 NIPBL PCNT RSPRY1 FKBP10 SCARF2 RECQL4 HSPG2 CRLF1 MAP2K1 DPF2 SALL4 CUL4B TRPV4 KRAS NXN TBX5 COL6A3 FDFT1 SLC39A8 GALNS SLC29A3 GJA1 P4HTM SOX11 GLE1 ENPP1 PSTPIP1 BGN B3GAT3 PSMD12 SLC6A9 SOS1 SMARCD1 CANT1 CUL7 PEX2 COL6A2 COLEC11 LARGE1 HACD1 DYNC2LI1 TFAP2A PPP1CB ORC6 STXBP1 SRD5A3 EXT2 KY SRY HOXA11 SIK3 TPM3 MYL2 PIGY COL7A1 AEBP1 EP300 LGI4 SNRPB ABCC6 OBSL1 ROR2 CAPN3 CREBBP TOR1A CPT2 ARID1A B4GALT7 OPA3 PPP2R3C CDC45 NF1 STAG1 SLC39A13 SPRTN POP1 MACROH2A1 EVC2 SMARCC2 DYSF FGF9 KLHL7 PTH1R SYNE1 RAD21 SMARCB1 NPR2 CSGALNACT1 PLOD1 PIK3C2A ATP7A WNT4 SVIL HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES WDR35 KDM1A KDM6A EXT2 COMP PUF60 CDH11 SOX4 XYLT1 WNT5A IFT122 PRMT7 SF3B4 RMRP KCNH1 HHAT DMD MAP3K7 RB1 BRCA1 GDI1 MGP KCNA1 GDF5 MTOR GPC6 EOGT NOTCH1 ARCN1 PIGQ TRPS1 FGFR1 FGFR2 LIG4 SIK1 MAGEL2 B3GALT6 KIF22 FAM20C HDAC8 GLI3 SNRPN ARHGEF6 TBX15 DYM IFT172 NSD2 DHCR7 NSDHL ASXL1 FANCM ADA2 GPX4 COL10A1 SLC26A2 TNNI2 CDT1 ACTL6A RNU4ATAC MBTPS2 ERCC4 KCNJ8 KIAA0586 NDN DYNC2I1 FN1 LMBR1 GLI1 BPTF HOXD13 LMNA ROR2 PDE3A INPPL1 MECOM FGF10 PALB2 PDE4D DHODH SEM1 SHOX GPC3 CHRNA1 ACTB XRCC2 UPF3B ADNP LMX1B RFWD3 NELFA DYNC1H1 ACAN HERC2 GGCX SALL4 DYNC2I2 IQSEC2 COG4 RAD51C MASP1 IHH ORC1 VAC14 OBSL1 EVC P3H1 MSL3 WNT10B CLCN7 SCN1B CCDC8 GATA1 SMARCA2 MET COL2A1 GMNN LBR NPAP1 SIL1 RPS15A LRP4 RAD51 PCYT1A DVL3 SMC3 SNORD116-1 SEMA5A RBBP8 DPH1 WRN KIFBP IGF1R RECQL4 HSPG2 BPNT2 RBM8A SIN3A PGAP2 GLUL EIF4A3 KMT2E FANCD2 DYNC2H1 FUT8 MKRN3 SNORD115-1 WNT7A RPL11 MECP2 TONSL RPS19 RTL1 B9D1 FBXL3 CRKL RUNX2 EIF2AK3 HDAC6 PIGS PTH1R WDR19 WIPI2 PDHA1 SMARCD1 NOG RPL10 RAB23 RPS10 CNKSR2 DONSON DYNC2LI1 EXOC6B ZBTB20 GRIP1 C12orf57 B3GLCT NHS EFNB1 RBPJ ALDH18A1 GNAS STX16 SIK3 ZSWIM6 TRAPPC2 SLC25A24 RBM10 NSUN2 AMMECR1 CANT1 WNT3 TRIP11 OCA2 KCNJ2 DVL1 RPS28 EVC2 FRMPD4 GJA1 FANCC CHN1 ATP6V1B2 FLNB BMP2 KMT2D PSMD12 TRPV4 WDR81 ARID1A DLK1 BMP4 PRKAR1A LIFR FLNA SLC39A13 IFT80 DDRGK1 CUL7 MACROH2A1 DCHS1 SMARCC2 RPL5 SLC35D1 STXBP1 IGF2 GABBR2 MAD2L2 CWC27 AIFM1 TBL1XR1 AGPS FTSJ1 KNSTRN EDA HCFC1 WDFY3 PHYH ZMPSTE24 FGFR3 RERE POC1A ALOX12B BMPR1B TBX3 HPGD PEX5 PGAP3 IL7R PTDSS1 HOXA13 COX4I1 LTBP3 PIGV FZD2 CD96 NALCN APC USP9X MYT1L PIGN PIGL SLX4 AMER1 NANS TRMT1 FBXO11 ACTL6B SMC1A RIPK4 TBC1D24 MED13 INTU FBN1 IKBKG ESCO2 TRRAP COL11A2 RPL15 TGFB1 RAI1 ZIC3 SEMA3E RPS6KA3 EZH2 NIN ORC4 DYRK1A BCR ATR ORC6 PIK3CD DDX6 TNNT3 UNC80 PPIB ZMIZ1 SMARCE1 TBCE SON CNOT3 SUFU GHR POLE MCTP2 COL9A1 BHLHA9 NEPRO FANCE CHRNG CHST3 ACVR1 SMAD4 NEUROD2 KCNN3 SATB2 NEK1 KDM5C MRPS28 INPP5K FAM50A NPR2 PTCH2 CRTAP RPL27 FMR1 ERGIC1 DLL4 CNOT2 SPART RSPRY1 FANCA CRLF1 ZNF81 IFT43 MAB21L2 CUL4B RSPO2 MYSM1 BRCA2 HYLS1 TBX5 EBP TRIM8 PORCN RPL26 ALOXE3 SOX11 SVBP B2M CCDC28B CDK10 NIPBL FANCB RPL35A ARL6IP6 CCBE1 PRDM16 PIGY RPS7 LONP1 TFAP2A CEP120 DNMT3A MTX2 CLCN4 ABCA12 FANCF ALG13 PRKACB PCGF2 HMGA2 PLXND1 GNPAT RLIM COL11A1 PTCHD1 DACT1 IFT52 CDKN1C FLI1 SERPINH1 CDC6 HDAC4 ZBTB16 CASK AFF4 ABCC9 CSPP1 PPP2R3C PIGO CDC45 EDA2R ARX FANCL PHF6 NGLY1 SALL1 ANTXR2 MYCN TCTN3 IFNGR1 KLHL7 STAMBP TBX4 PSAT1 TP63 TRAPPC4 ATP7A DPM1 PIGW MMP13 HTT ARID2 BTRC FANCI TSR2 KMT2A MEIS2 IFT140 CHRND SLC35C1 MBD5 NTNG1 FBXW11 CPLX1 ADAMTS2 BRIP1 KRAS DLX6 YY1AP1 SETBP1 COL9A2 MMP9 HBA2 COL9A3 BCOR SLC6A17 CLTCL1 CREB3L1 KYNU TTC21B FRAS1 CHD7 TELO2 MIR140 DOCK3 RAG2 SPECC1L SLC25A22 NXN ARHGAP31 DLX5 EPS15L1 CTSK HINT1 ADA DHCR24 PWAR1 TRIO TCF20 CCDC47 UBE2A HESX1 SNIP1 SHH ADAMTSL2 ARL6 NFIX SOX9 CERT1 FKBP10 CRIPT CDKL5 USP7 PIGB PCNT PAPSS2 GNPTAB DPF2 LMNB2 GPC4 PEX7 GNAS-AS1 PAK3 LETM1 RAG1 POLR3A MEG3 OFD1 SLC39A8 PKDCC CHST11 B3GAT3 AGTR2 SCN2A MAPK1 KCNAB2 HBA1 DMXL2 IFT57 SMO PTCH1 TFAP2B SRY CAMK2G GNAO1 IDUA ZNF41 FGD1 MATN3 RPS24 ALG12 SLC35A2 KAT6B SLC9A7 ACP5 EXT1 RPL18 CXorf56 NOTCH2 PIK3C2A GABRD COG1 UBE2T CCNQ FGF9 SLC10A7 PIGT RAD21 SMARCB1 CSGALNACT1 TRAF3IP1 RAB33B TCF4 CHSY1 CTNND2 ARSL REV3L ALMS1 EXTL3 CTC1 ARID1B MAPRE2 KIF15 MAPK8IP3 MEGF8 CFAP410 PLCB3 TWIST2 PITX1 TANC2 CCDC22 RPL35 TBCK IL2RG RPL31 PTHLH GSC DLG3 PNKP DDR2 ASAH1 PHGDH IDH1 CENPE RAB3GAP2 SLCO2A1 ADAMTS10 MAFB PUM1 PRKACA LTBP2 SETD5 SIM1 SMARCA4 CHUK FAT4 SKI SMOC1 PPM1D GAD1 ANAPC1 IFT81 MED12 ACSL4 MYH3 IRX5 TUBB3 TBX22 CHD4 VPS13B ALPL TAPT1 RAC1 SCARF2 MIR17HG NBAS KIF7 COL3A1 PIGP RPS17 VPS35L SYP PIK3R1 BBS1 CILK1 JAG1 MID2 LAS1L FIG4 BGN ZNF711 WAC FBXL4 PAM16 TMEM67 FERMT1 WASF1 GALNT2 XRCC4 HUWE1 CTBP1 SNRPB TSPAN7 RAB39B SHROOM4 PWRN1 KAT6A FGFRL1 DOCK6 DOLK RPS26 TWIST1 USP27X RPS29 BCORL1 PLAG1 TPM2 POP1 FANCG IL1RAPL1 RPS27 IDH2 DCLRE1C HP_LOWER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_UNDERGROWTH ALPL PAPSS2 NOG CHUK MMP13 PPIB SHOX SLC26A2 ARL6IP6 HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS GDF5 LMBR1 DYNC2H1 GLI3 BMPR1B KCNN3 LMNA FIG4 ATP7A VAC14 HP_UPPER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_UNDERGROWTH WNT7A SALL4 TBX3 FGFR2 NIPBL SCARF2 RECQL4 SF3B4 PIGT SLX4 BRCA1 CHST3 FANCI SHOX APC EIF4A3 FANCD2 DYNC2H1 SLC26A2 TRIP11 TBX5 VPS35L PDE4D BRIP1 RPL26 EXT1 JAG1 FANCB RBM10 B2M HYLS1 PSMD12 RPS19 DONSON FANCM MEG3 CUL7 DHODH COL2A1 ESCO2 PALB2 RTL1 EXOC6B ERCC4 SEMA3E EXT2 IHH BPTF PRKAR1A FANCF FGF10 ATR TRAPPC2 MAFB XRCC2 OBSL1 ALG12 BRCA2 RFWD3 CHD7 LRP4 LBR FANCC CHN1 RAD51C ZBTB16 AFF4 CHUK GDF5 IFT81 BMPR1B FANCL CCDC8 FANCE UBE2T CCNQ FANCG FANCA FGFR3 MAD2L2 RAD51 NPR2 DLK1 DPM1 HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES LMNA GDF5 LMBR1 FGF10 FGFR3 GJA1 DYNC2H1 GLI3 BMPR1B FGFR2 MEGF8 FANCD2 FIG4 ATP7A SHH KCNN3 TRIO VAC14 HP_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_UNDERGROWTH WDR35 SALL4 FLNA TBX3 MMP13 PUF60 HHAT COL11A1 DDRGK1 WNT5A FGFR1 TONSL IFT122 SF3B4 FLNB RMRP LONP1 KIAA0586 LBR CEP120 SLX4 BRCA1 COMP FZD2 CD96 FANCI EXTL3 APC KMT2A IFT140 SLC26A2 MTOR GPC6 KIF15 SLC35C1 ARCN1 EXT1 MATN3 FANCB B3GALT6 NOG FAM20C HDAC8 ADAMTS2 GLI3 TBX15 HYLS1 CFAP410 PLCB3 RPS19 DYM IFT172 DHCR7 DONSON ASXL1 FGFR3 COL9A2 FANCM GPX4 COL9A3 COL2A1 RNU4ATAC MBTPS2 COL11A2 DYNC2I1 PALB2 TBCK FN1 EVC WDR19 IFT80 GLI1 CLTCL1 SEMA3E CREB3L1 KYNU GSC BPTF TTC21B NIN PRKAR1A DDR2 PHGDH B3GLCT INPPL1 FGF10 IDH1 ATR PDE4D MIR140 DHODH SHOX ACTB MAFB PPIB XRCC2 NGLY1 PRKACA SMC1A NXN RFWD3 SETD5 GDF5 CHD7 DYNC2H1 LRP4 ACAN BMPR1B FGFR2 COG1 RAD51C DYNC2I2 IHH DVL3 CHUK POLE DHCR24 DVL1 COL10A1 GAD1 EXOC6B COL9A1 PTH1R IFT81 HSPG2 CCDC8 FANCE CHST3 ROR2 NEK1 IFT52 KIF22 RAD51 NPR2 PCYT1A CRTAP DLK1 SMC3 ALPL WNT7A ERGIC1 TAPT1 RAC1 NIPBL SCARF2 PAPSS2 RECQL4 PIGT IFT43 NBAS HDAC6 MAB21L2 GLUL KIF7 EIF4A3 FANCD2 MYSM1 FUT8 TRIP11 TBX5 PCNT VPS35L EBP BRIP1 RPL26 CILK1 JAG1 SLC39A8 B9D1 RBM10 B2M PKDCC B3GAT3 DYNC2LI1 PSMD12 PEX7 PDHA1 MEG3 CUL7 ARL6IP6 ESCO2 RTL1 PAM16 SMO ERCC4 EXT2 EFNB1 FANCF TCTN3 SIK3 TRAPPC2 PRKACB GNPAT PIGY XRCC4 OBSL1 ALG12 BRCA2 CDKN1C ACP5 SERPINH1 FANCC CHN1 ZBTB16 TRPV4 AFF4 CSPP1 GHR LIFR FANCL ANTXR2 UBE2T EVC2 CCNQ FANCG SLC35D1 FANCA MAD2L2 LTBP3 AGPS RAD21 IDH2 PSAT1 CSGALNACT1 DPM1 HP_PHOCOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOCOMELIA WNT7A ESCO2 TBX5 LMBR1 SF3B4 RBM8A NIPBL HP_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_NEUROPATHY LYST AP1B1 JAK2 NDUFA4 NDUFA13 WFS1 SCN9A ACER3 SYNE1 C11orf95 AIFM1 SETX MAG SHANK3 KIF5A PMS2 ATXN7 KRAS ATP7B PMP22 BTNL2 XPC DDB2 RTN2 GPI ATP13A2 SOX10 STAT4 DNMT1 VCP MAGEL2 TOP3A HDAC8 ARSA SNRPN IL23R SPG7 SBF1 GBA2 XRCC1 SPART GSN CTSD MYF6 NDN MSH6 NDUFA12 HPDL NEFL NEFH VPS13A FUCA1 SYT2 MT-TV RPIA SURF1 MSTO1 PDHA1 EPCAM FDX2 MLH3 PDE4D MT-ND5 FXN CHAMP1 DEAF1 PRX TWNK DNAJB2 SLC2A1 MYD88 GALC ABCC8 TXN2 CTLA4 DYNC1H1 PDK3 HERC2 MT-ND6 PMPCA UBAC2 CYP2U1 ERCC5 EGR2 YARS1 POLG2 HINT1 ERCC8 RAB3GAP2 ATL1 HARS1 MT-ND4 PNKP DNASE1L3 GRIA3 HLA-DRB1 MT-TL1 CHAT NDUFS2 POLG C12orf65 NOTCH3 ATAD3A GBE1 NPAP1 C4A NDUFA9 MT-ATP6 SMC3 SNORD116-1 SLC18A3 PDYN TBC1D20 VAMP1 KIF1C PIEZO2 SLC46A1 CISD2 AIP ARL6IP1 GDAP1 GMPPA CBLIF TRAPPC11 WIPF1 MPZ REEP1 TUBB3 FA2H MTHFR MKRN3 HADH SNORD115-1 RFC1 MADD CCR1 SLC30A10 MT-TF PEX7 ERCC2 GNA11 MCM3AP CTDP1 PEX11B SYNGAP1 PEX10 DHH NDUFAF6 MT-ND2 HK1 ABCD1 COA3 COL1A1 TACO1 CYP7B1 PRTN3 PPP2R2B MPC1 FLVCR1 OPA1 BEAN1 ALDH18A1 MPV17 ATXN8OS GTF2H5 NDUFV2 HMBS KLC2 XK ERAP1 RAB3GAP1 KCNQ1OT1 OCA2 AEBP1 H19 SERPING1 ATXN3 SLC19A3 HLA-DPA1 NDUFB8 MME SERPINI1 APP TNFRSF1A FIG4 HSD17B4 ZFR ZEB2 MEFV FGF14 HLA-B LIFR MT-TW NTRK1 AMACR HNRNPK PRPS1 STXBP1 ERCC4 COG8 KNSTRN NAGA BMPR1A PHYH TMPRSS6 MICU1 COA8 MORC2 SLC12A3 MFN2 MRE11 HLA-DQB1 MAPT SMPD1 DNM1L HPGD CPOX PEX5 VPS37A RNF113A ERCC6 ACO2 SLC25A15 TTR GARS1 DNAJC3 MTMR14 GCDH CASR TTBK2 KIF1A POLR3A RAI1 AR PGM3 GNAS TBC1D24 FAN1 KCND3 LAMA2 FAS SORD SCN10A LDB3 DNM2 PNPLA6 DARS2 TGFB1 JPH1 SLC25A46 MT-TS2 DST PDCD1 PRKCG PRKAR1A TYMP ADAR PMM2 PIK3CD ERLIN2 HADHB SRPX2 LMNA MYOT TFG UNC80 GCH1 SPG21 CACNA1A FLI1 FAM126A MT-ND4L INSR NAGS AP5Z1 SCN4A ATP1A2 KCNJ10 SCN11A SNAP29 TNXB HSPB1 HSPB3 COASY POLR3B RNF170 NOTCH2NLC KLHL9 CD59 LIPT1 IL12A-AS1 KCNK9 INPP5K ATP1A1 ATN1 ATL3 HSPB8 HSD3B7 PEX6 MT-ND1 ERCC3 SLC25A1 BAG3 MT-CO3 STX16 IARS2 WAS MPL PIK3R5 ALS2 HADHA DSTYK COX6A1 STUB1 SPG11 IGHMBP2 ACOX1 PLP1 MTFMT TREX1 GAN BSCL2 MT-TQ NIPBL CACNA1G PRICKLE1 GJC2 SPAST MATR3 MLH1 TPI1 TARS1 ADAT3 COX15 KIF1B NF2 MARS1 AP1S1 DMPK PIK3CA TBCD CCT5 GABRG2 C19orf12 RNASEH2A IGF2 MT-CYB PSAP HSPD1 APTX ADA2 RRM2B NLRP3 PDSS1 ZFYVE26 CALR MTMR2 MYO9A GJB1 KLRC4 PHF6 CAPN1 NGLY1 TIMM8A COA7 RMND1 PRRT2 NDUFS4 FBN1 SEMA4A MYH14 MT-TE IDS AARS1 PLOD1 SLC25A4 RNASEH2B GCLC CD28 ATP5F1E WDR48 ABHD12 TRIP4 SEPTIN9 STAT3 KCNJ1 TTPA SAMHD1 CHST14 HFE SLC19A2 DMXL2 NDRG1 LITAF SLC33A1 SELENOI NTNG1 DGUOK PDX1 TP53 PTPN22 PET100 CLCF1 IFRD1 AFG3L2 TDP1 RETREG1 MT-CO1 DCAF8 MEN1 CLTCL1 SACS TBCE SCP2 ALAD TRPV4 RELA SMC1A SNAP25 MT-TK COMP PLD3 PWAR1 AGXT SHMT2 SLC5A7 RAB18 FAH CYP27A1 MPLKIP TPP1 GCK BRAF IL12A AGRN RNASEH1 NARS1 BIN1 RNASEH2C ATXN2 DDHD1 TGM1 COQ7 SH3TC2 UBTF NEMF NDUFV1 IFIH1 GLA SBF2 ZFHX2 ELOVL5 PIGB IBA57 ECHS1 COL13A1 FOXRED1 MECP2 MTRR AAAS NDUFAF3 PNPT1 FGD4 AMPD2 AHCY SLC5A6 TNFRSF1B WASHC5 FMR1 CA2 HNRNPA1 COX20 ABCA1 IDUA TK2 NDUFS7 SLC12A1 CPT1C GABBR2 KCNJ11 NAGLU SDHA OPA3 NOTCH2 SLC12A6 NDUFAF2 CDKL5 NDUFAF5 PEX1 B4GALNT1 RAD21 PEX12 NGF MED25 NDUFA2 PPOX SCYL1 TIMMDC1 ALMS1 NIPA1 TET2 CCND1 THPO FLII REEP2 ELP1 NDUFA10 SGPL1 NALCN B2M GTF2E2 IL10 SLC52A3 FLRT1 OSTM1 RYR1 GRIN2A PLEKHG4 ARSI SPTBN4 SLCO2A1 DSE GPR101 ASCC1 GNB4 SETD5 CLCNKB CLP1 SIM1 DKK1 ATP7A CRAT GLE1 XPA SAR1B ATXN1 IQSEC2 PLEKHG5 NDUFS8 SCO2 MT-TH NDUFS1 WARS1 INF2 MSH2 MANBA SIL1 WNK1 RASA1 TGFBR2 KARS1 TRIM2 FBLN5 HDAC4 GNPTAB KCNC3 DAB1 NF1 NDUFS3 GNA14 MFF RAB7A SCN1A SAMD9L SUCLA2 SPTLC2 KMT2A DEGS1 VPS13D CHCHD10 CUBN SLC52A2 TLR4 UCHL1 SLC25A19 XRCC4 RNF168 PLA2G6 PMS1 PWRN1 TBP CAV1 INS LRSAM1 HNRNPA2B1 DHX16 GRM1 EDNRB RPS20 HLA-DPB1 SPTLC1 ELOVL4 SH2B3 MT-ND3 MTTP DHTKD1 EBF3 ERCC1 ARSB MT-CO2 SPTBN2 HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER PIGW SALL4 BMPR1B RPS6KA3 SOX4 PGAP3 NOG SOST WNT5A HOXA13 ARSL IFT122 RMRP KCNH1 DMD ARID2 PIGV GDI1 MGP PIGN MTOR ARID1B EOGT NOTCH1 WDR35 TRPS1 NALCN FLNB KIF22 RAB3GAP2 FLNA TBC1D24 RBPJ ARHGEF6 ARID1A SETBP1 PITX1 COL10A1 KCNJ8 CCDC22 SETD5 LMNA EVC ATRX EP300 GLI1 DLG3 RAB3GAP1 TGFBR2 DDR2 HOXD13 KDM5C BCR ROR2 PIK3CD GPC3 GPC4 ZMPSTE24 UNC80 UPF3B SMARCE1 LEMD3 PHF6 ARHGAP31 DSP SUFU PTHLH USP9X SMARCA4 GGCX IQSEC2 CREBBP COG4 CTSK COMP IHH SMARCB1 MCTP2 VAC14 DVL1 RNU4ATAC FTSJ1 PIGL COL2A1 CLCN7 CHST3 SMARCA2 MED12 FGFR2 KCNN3 ACSL4 NFIX LMBR1 IFT52 TBX3 MRPS28 CRIPT PTCH2 DLK1 KIF7 DLL4 PIGB PCNT DPF2 ABCC9 ZNF81 PGAP2 PAK3 NXN GNAS VPS35L SYP MECP2 JAG1 MID2 IARS1 SOX11 IFT43 CRKL PIGO FIG4 CHST11 B3GAT3 PIGS ACTL6B WDR19 AGTR2 ZNF711 TRPV4 SMARCD1 MEG3 MAPK1 CNKSR2 PIGY RTL1 DYNC2LI1 SLC25A24 CTSC ZBTB20 IFT57 PTCH1 CLCN4 BANF1 ALG13 AMMECR1 CANT1 ZNF41 PTCHD1 TSPAN7 RAB39B DOCK6 LRP4 SLC9A7 ACP5 FRMPD4 TWIST1 MAP3K7 USP27X ARX CXorf56 NOTCH2 PPP2R3C EDA2R B3GALT6 GDF5 IGF2 MACROH2A1 EVC2 SMARCC2 IL1RAPL1 TFAP2B CWC27 KNSTRN EDA HCFC1 STAMBP PAH GATAD2B POC1A HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND GDF5 LMNA ROR2 MECOM FGF10 BMPR1B SLC26A2 PIK3CD PUF60 CHSY1 FGFR2 HOXA13 PCNT WNT5A TRPS1 MIR17HG IHH NOG KDM6A PHF6 FGFR3 DVL1 GJA1 BMP2 KMT2D PDE4D BHLHA9 TRPV4 BMP4 VAC14 PTDSS1 COL2A1 RUNX2 EIF2AK3 MEGF8 FIG4 INTU NEPRO GATA1 KMT2A IGF2 HOXD13 PQBP1 COL10A1 RAB23 FGFR1 NFIX GMNN TFAP2B MYCN KNSTRN IFT57 RBBP8 NIN HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND CDKL5 GNAS COL10A1 KIF22 BMPR1B COL2A1 CHSY1 FANCD2 FIG4 FGFR3 GDF5 BHLHA9 TRPS1 CREBBP IHH SHH RAB23 MTOR EP300 KIF15 LMBR1 NOG FLNB TRIO VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND SMARCA4 FLNA PIGW SALL4 BMPR1B DLL4 RPS6KA3 SOX4 PGAP3 NOG PIGB PCNT HOXA13 ARSL IFT122 DPF2 KCNH1 ABCC9 GPC4 DMD ZNF81 ARID2 PGAP2 PIGV GDI1 CHST3 PAK3 MGP NXN PIGN MTOR ARID1B EOGT VPS35L SYP MECP2 NOTCH1 WDR35 TRPS1 JAG1 MID2 FLNB COL2A1 SOX11 IFT43 CRKL TBC1D24 RBPJ ARHGEF6 PIGO FIG4 CHST11 PIGS ACTL6B ARID1A WDR19 AGTR2 ZNF711 TRPV4 SETBP1 SMARCD1 COL10A1 KCNJ8 MAPK1 CNKSR2 CCDC22 PIGY EVC DYNC2LI1 SLC25A24 ZBTB20 IFT57 PTCH1 GLI1 DLG3 CLCN4 TGFBR2 HOXD13 ALG13 KDM5C BCR ROR2 PIK3CD GPC3 ZNF41 PTCHD1 IHH UPF3B TSPAN7 SMARCE1 RAB39B IFT52 PHF6 ARHGAP31 DOCK6 SLC9A7 ACP5 SUFU PTHLH USP9X FRMPD4 GGCX IQSEC2 COG4 CTSK COMP MAP3K7 USP27X ARX SMARCB1 MCTP2 CXorf56 NOTCH2 VAC14 DVL1 EDA2R PIGL LMNA CLCN7 MED12 GDF5 IGF2 EVC2 KCNN3 SMARCC2 ACSL4 IL1RAPL1 NFIX CWC27 TBX3 FTSJ1 KNSTRN EDA HCFC1 STAMBP CRIPT PTCH2 ZMPSTE24 POC1A HP_BROAD_DISTAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_DISTAL_PHALANX_OF_FINGER FGFR2 GNAS FLNB RNU4ATAC KIF22 B3GALT6 AMMECR1 B3GAT3 CHST3 SMARCA2 IFT122 CREBBP GPC4 HOXD13 WDR19 SETD5 MEG3 FLNA RTL1 EP300 GATAD2B DLK1 HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER BHLHA9 NOG TFAP2B PQBP1 GDF5 HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND BMPR1B COL2A1 MTOR FANCD2 FIG4 FGFR3 KIF15 LMBR1 IHH SHH TRIO VAC14 GDF5 HP_SIMPLIFIED_GYRAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLIFIED_GYRAL_PATTERN VLDLR CENPE STIL WDR62 SMPD4 FOXG1 C2CD3 XRCC4 PRKDC OSGEP IER3IP1 MPDZ QARS1 PSAT1 DYNC1I2 SON CLP1 ASNS AHDC1 TUBGCP6 CUL4B ANKLE2 PNKP CDK6 ASPM KATNB1 NDE1 EXOC7 CIT DONSON CDK5RAP2 DCHS1 KIF14 RTTN ERCC1 PLK4 GMNN GFM2 CEP152 TRAIP COPB2 TUBB3 CSNK2A1 TUBB2A KIF11 ZNF335 TSEN2 SPOP HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND ROR2 BMPR1B DVL1 CANT1 LMBR1 TWIST1 WNT5A PAH GDF5 FGFR2 KIF7 LEMD3 PPP2R3C HP_TRICHORRHEXIS_NODOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICHORRHEXIS_NODOSA TTC37 KRT25 SPINK5 ERCC2 MPLKIP HEPHL1 SKIV2L ASL HP_ABNORMALITY_OF_HAIR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_PIGMENTATION LYST KIT UBR1 TYR ERCC6 LAMTOR2 PRKAR1A ZNF469 TINF2 MYO5A TTC37 KRT25 PAX3 PAH FGFR3 RTEL1 AP3D1 HPS4 PARN MLXIPL RAB27A CTNS KANSL1 SNAI2 SOX10 TERT MAGEL2 SLC45A2 SNRPN PSMB8 CACNA1F PDE4D NDN BLOC1S3 TERC SLC17A5 HPS6 HPS1 MITF EDN3 BRCC3 TFAP2A MAFB MDM2 PADI3 KITLG DSTYK PIGN SIM1 OCA2 HERC2 INSR KRT74 ABCA2 SKIV2L ESCO2 PWAR1 EDNRB KRT71 TGM3 CTC1 LPAR6 WRAP53 LRMDA DHCR7 NHP2 NPAP1 STN1 DKC1 SNORD116-1 WRN TYRP1 PTPN22 PRDM5 DTNBP1 RMRP LMNA MKRN3 SNORD115-1 POMC FDFT1 ATP10A USB1 PEPD AP3B1 UBE3A TP63 ACD SALL4 MC1R GNPTAB RECQL4 UROC1 NPM1 MLPH ERCC8 PWRN1 ATP7A FAS ATM CHN1 ELN HPS5 NOP10 MTAP EPG5 HPS3 LIPH PCSK1 TMCO1 HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR BNC1 HESX1 WT1 LHB ORC6 LHX4 TBX3 NUP107 ADAMTS3 PROP1 FSHR FOXL2 PSMC3IP SOX9 GNRH1 SNRPE NR5A1 MDM2 SRA1 GATA4 BMP15 CYP17A1 EPS8L3 FAT4 AR APOE LPAR6 CCDC141 CYB5A POU1F1 GNRHR AXL FGF17 APCDD1 SEMA3E PPP2R3C SOX3 MAP3K1 WDR11 CCBE1 DSC3 FOXA2 PSMB8 SPRY4 DUSP6 ZFPM2 SRY ITGB4 MRPS22 GJB6 FEZF1 GLI2 DHX37 COL17A1 TP63 ZBTB20 OTX2 HLA-DRA POLR3H NR0B1 SPIDR ANOS1 VAMP7 DMRT3 WWOX FSHB HP_LOCALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_HIRSUTISM FLNA AFF4 PEPD CPOX DLK1 TASP1 RTL1 CKAP2L ARID1B TBX15 WNT4 MEG3 HP_HIGH_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_ANTERIOR_HAIRLINE TWIST1 KDM1A PEX6 SETD2 SLC35C1 NOVA2 NRXN1 CDH1 FGD1 ALX1 SPECC1L SIN3A ADNP NELFA LETM1 IFIH1 MEIS2 DLX4 MID1 CCNK LRP2 RALGAPA1 ALX3 EFNB1 CNTNAP2 NSD1 NEPRO PEX1 SYT1 SOS1 NSD2 SLC9A7 ADARB1 THOC6 CWC27 ATP6V1B2 TBL1XR1 UGP2 ZC4H2 PIGK STAG2 RERE KCNH1 WNT4 HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES JAG1 PEX11B SLC25A24 RBM10 NSUN2 PIK3CD PEX5 PEX26 PEX12 NEU1 PEX13 TTC37 ZFPM2 KRAS GATA6 GATA5 GHR MYOD1 ZIC1 PEX19 ASXL1 MASP1 PEX6 BRAF GJA5 LIG4 PEX2 FGFR2 SOX11 GDF1 FGFR3 TWIST1 NKX2-6 PRMT7 TBX1 ANTXR1 HBA2 PEX10 NKX2-5 RAB23 ESCO2 PEX1 MAP2K1 PEX3 TCF12 HBA1 KNSTRN PEX16 KLHL7 KIF11 FLT4 TRAPPC9 CITED2 MAP2K2 PEX14 GATA4 SPOP HP_ANOTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOTIA ORC6 CDC6 CDC45 POLR1A ORC1 CHUK CDT1 HOXA2 FANCB ORC4 GMNN HP_THICKENED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_EARS ATP6V1B2 KCNJ11 KCNH1 ABCC8 PTCH1 TAF1 AFF4 ALMS1 KCNN3 HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX FGFR2 EDN1 FGFR3 GNAI3 PLCB4 ZNF462 TWIST1 TCTN3 HP_ABNORMALITY_OF_THE_ANTITRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTITRAGUS CHST3 PIGK KCTD1 RAB3GAP2 PNPLA6 B3GAT3 KAT6A HP_PROMINENT_EAR_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_EAR_HELIX AFF2 ACBD5 DOCK7 ZMIZ1 ZMPSTE24 LMNA HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES ABHD5 RBM10 PCNT RBBP8 EP300 SEC24C TBX1 CENPJ KCTD1 GP1BB CHD7 VPS13B ARVCF PTPRF RREB1 HBA2 KAT6A PLK4 FGFR2 ESCO2 ATRIP SMS COMT CEP152 COL3A1 FLI1 POLR3A HBA1 UFD1 CDC6 CENPE HIRA TRAIP FIG4 JMJD1C SEMA3E AHDC1 SLC35C1 ATR EBF3 B4GALT7 CREBBP HP_UPLIFTED_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPLIFTED_EARLOBE PIGQ GRIA3 ZEB2 PIGB KMT2C AHDC1 EHMT1 SMARCD1 IL1RAPL1 BMP4 TBL1XR1 HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY POR FGFR3 CEP57 GDF6 GDF3 HP_ABNORMALITY_OF_THE_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TRAGUS GLI2 KCTD1 EFTUD2 RNU4ATAC NUP188 SALL1 DACT1 PIGN KAT6A SMCHD1 HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS GLI2 KCTD1 EFTUD2 NUP188 KAT6A SMCHD1 HP_CYCLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYCLOPIA SHH TGIF1 TDGF1 NODAL ZIC2 GLI2 CDON PRRX1 FGFR1 STAG2 PTCH1 DLL1 FGF8 GAS1 DISP1 FOXH1 SIX3 OTX2 SMC1A SUFU HP_ANISOCORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCORIA GMPPA TMEM67 LOXL1 SIN3A DDX6 AAAS HP_PERSISTENT_PUPILLARY_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_PUPILLARY_MEMBRANE POMT2 CPAMD8 GJA1 ADAMTSL4 ATOH7 HP_ECTOPIA_PUPILLAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_PUPILLAE FOXC1 CPLX1 RHOA FGFRL1 COL4A1 LETM1 COL8A2 ADAMTSL4 VSX1 GRHL2 ZEB2 OVOL2 CPAMD8 NSD2 CTBP1 TBX2 FBN1 ZEB1 MAB21L2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE LMBR1 PAX3 NFIX UBR1 NALCN STAG2 CENPJ SCARF2 NEXMIF RECQL4 DGCR6 PRPS1 SIN3A KCNJ6 EDNRB TWIST2 NAA10 SPATA5 ALX1 ASXL3 HNRNPH2 HNRNPK MGP PCNT KANSL1 NOG CREBBP OFD1 CKAP2L SRCAP ALX4 GJA1 CRKL EDA SOX11 MVK PIK3R1 ESS2 RSPO2 NSUN2 SMCHD1 ZMPSTE24 PDE4D ESCO2 MAPK1 RIPK4 MITF ATP6V1B2 MTX2 EXT2 DGCR2 FRAS1 CLP1 TWIST1 BCR TP63 EDN3 DGCR8 MYH3 TAF6 PLEC WNT3 PRRX1 SOX10 DDR2 ALG9 TRPS1 LMNA TGIF1 MADD RDH11 FREM2 RNU4ATAC TXNL4A GHR TBX1 HDAC4 DYRK1A PRKAR1A PPP2R3C USH1G FLNB ANKRD11 PTCH1 CTNNB1 FGF3 SIX3 UBE2A PURA TRIO ORC4 OTX2 PHF21A GMNN CWC27 GRIP1 MYO18B HP_EPIPHORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHORA SDHD SLC39A14 SREBF1 NOP10 NLRP3 LRP1 KRT12 COL17A1 TINF2 IGSF3 OVOL2 NHP2 DKC1 SEMA4A KRT3 HLA-DRB1 HP_THICK_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_NASAL_ALAE SMARCA4 EXT1 RHOA ZSWIM6 PIK3C2A MED12 RPS6KA3 NF1 SMARCE1 CCNK SMARCA2 ANTXR1 KCNH1 ABCA5 KANSL1 TRPS1 AKT1 ABCC9 PTEN HP_ABNORMALITY_OF_THE_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COLUMELLA TWIST1 LMBR1 ITCH RAC1 EXOSC2 MGAT2 ALX4 KDM6A ATN1 EP300 ZMIZ1 TSPEAR MADD KAT6A RDH11 NAA10 DNMT3A FLI1 ASXL3 GJA1 CREBBP HDAC4 KMT2D ATP6V1E1 NALCN ALX3 NOG CKAP2L SRCAP KDM3B ZEB2 CDH11 PIK3C2A SOX11 ACTG1 CTNNB1 KCTD1 ZSWIM6 UBE2A PQBP1 TRIO CTCF THOC6 SHH AIMP2 ACTB ERF CWC27 B3GLCT ZNF148 CENPF HP_SINGLE_NARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_NARIS SHH TDGF1 NODAL GLI2 CDON STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 SIX3 CSPP1 WNT3 GAS1 SMCHD1 FGFR1 ZIC2 SMC1A HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM SIX3 NOG FLNB TGIF1 PTCH1 HP_MANDIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_APLASIA CDC6 CDC45 ORC1 HCCS PRRX1 COX7B ORC6 CHUK CDT1 NDUFB11 FAM20C OTX2 ORC4 GMNN HP_DUPLICATION_OF_THUMB_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THUMB_PHALANX FGF10 BCOR NUP107 CANT1 CHSY1 FGFR2 FANCE FANCA GLI3 RPS24 GATA1 DACT1 TSR2 RPL26 RPS26 RPS28 GLI1 RPS17 TBX5 RPL11 RPS19 RPS29 RPL18 PPP2R3C SHMT2 FANCD2 SALL1 ACTG1 INTU GDF5 ADA2 NAA10 RPL5 RPL35A RAB23 RPS10 ACTB ESCO2 RPL35 RPL15 BMPR1B FGFR3 RPS7 FANCC LMBR1 SMO RPL31 RPS27 RPS15A PAH UBE2T KIF7 RPL27 HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND ESCO2 BMPR1B BCOR FANCC LMBR1 CHSY1 FANCD2 FANCE FANCA GDF5 NAA10 LEMD3 RAB23 SHMT2 HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND FGF10 NUP107 CANT1 CHSY1 FGFR2 FANCD2 SALL1 INTU RPS19 ADA2 RPS24 GATA1 RPL5 DACT1 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 FGFR3 RPS7 RPS26 RPS28 GLI1 RPL31 RPS27 RPS17 TWIST1 RPS15A TBX5 RPL11 PAH RPS29 RPL18 KIF7 PPP2R3C DVL1 RPL27 HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND PAH CANT1 FGFR2 KIF7 TWIST1 PPP2R3C HP_ABNORMALITY_OF_THE_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_1ST_METACARPAL GDF5 GNAS HDAC8 NOG CANT1 FANCD2 FIG4 HOXA13 FZD2 PCNT ACVR1 SETBP1 SHH SALL4 PQBP1 NIPBL SMC1A MEG3 SETD5 FANCI BMPR1B KMT2A RTL1 RAD21 VPS35L LMBR1 IHH DLK1 SMC3 TRIO NONO VAC14 HP_ABNORMALITY_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_METACARPAL BMP2 SALL1 BMPR1B GLI3 RUNX2 GDF5 HP_ABNORMALITY_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_4TH_METACARPAL HOXD13 GNAS FLNA FBXL3 SUFU GLI3 LBR PIGS PTCH1 SHOX PTCH2 FAT4 SVBP DCHS1 FGF16 SRY FERMT1 SMOC1 HP_ABNORMALITY_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_METACARPAL KIAA0586 GNAS FLNA FBN1 LBR HOXD13 RUNX2 SVBP NOG LTBP3 BMP2 FERMT1 CSPP1 HP_SHORT_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_1ST_METACARPAL GDF5 HDAC8 NOG CANT1 HOXA13 FZD2 PCNT ACVR1 SETBP1 SALL4 NIPBL SMC1A MEG3 SETD5 FANCI KMT2A RTL1 RAD21 VPS35L DLK1 SMC3 HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL BMP2 BMPR1B GLI3 RUNX2 GDF5 HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL GNAS FLNA FBXL3 SUFU GLI3 LBR PIGS PTCH1 SHOX PTCH2 FAT4 SVBP DCHS1 SRY FERMT1 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL GNAS FLNA SVBP LBR NOG HOXD13 BMP2 FERMT1 RUNX2 HP_APLASIA_OF_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_METACARPAL_BONES RECQL4 LMBR1 GLI3 SHH FANCD2 TRIO FIG4 SALL4 VAC14 HP_DEVIATION_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_HALLUX CLIP2 ITCH SCARF2 AEBP1 HOXA13 SF3B4 BMPR1B FGFR3 FGFR2 TWIST1 PRDM5 KMT2E USP9X MYH3 MYT1L MLXIPL TRMT1 ACTL6B FGFR1 B3GALT6 FBXW11 SLC29A3 SVBP PSMB8 ERMARD MED13 GBA CHST11 B3GAT3 BMP2 GTF2IRD1 GTF2I ZEB2 CREBBP COL1A2 KCNN3 PTEN ACTL6A KCNH1 TANC2 ERF RFC2 SLC16A2 EP300 GDF5 SRY AKT1 NONO CDKL5 TBL2 NUP107 DOCK3 DDX6 RLIM DYRK1A BPTF USP7 ZMIZ1 TCF12 KAT6A ACVR1 FHL1 ATP6V1B2 ELN PSMD12 TP63 BCORL1 C2CD3 BAZ1B LIMK1 NTNG1 TCF20 CHST3 IL11RA ZNF469 FGF9 HOXD13 WDFY3 YY1 ATL3 TRAPPC4 RBBP8 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX TBR1 CANT1 PTHLH HOXD13 FIG4 VAC14 HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE ACVR1 HOXA13 NEK1 VPS35L ABCC9 CANT1 FGFR2 FIG4 TWIST1 VAC14 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX C2CD3 EFNB1 FGFR2 SALL4 TBR1 GATA4 CANT1 HYLS1 FIG4 SALL1 BHLHA9 IFT122 EP300 IHH ABCC9 GPC4 SUMF1 BMP2 HOXD13 CTCF DACT1 GLI3 RAB23 KCNJ8 ROR2 ACVR1 NEK1 NXN FLI1 PTHLH TWIST1 LMBR1 CREBBP ACTB KIF7 SATB2 FGFR1 VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX ACVR1 PTHLH IHH FIG4 HOXD13 VAC14 HP_BROAD_HALLUX_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_HALLUX_PHALANX KCNJ8 EFNB1 ROR2 FGFR2 NXN SALL4 GATA4 FLI1 SALL1 GLI3 ABCC9 GPC4 SUMF1 BMP2 SATB2 HOXD13 FGFR1 CTCF DACT1 HP_DUPLICATION_OF_PHALANX_OF_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_PHALANX_OF_HALLUX C2CD3 NEK1 EP300 ACTB CANT1 KIF7 TWIST1 LMBR1 HYLS1 CREBBP RAB23 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES SALL4 HPGD SOX4 NOG IFT122 DPF2 WNK1 KCNH1 ABCC9 GPC4 SUMF1 ARID2 BRCA1 NXN FANCD2 KCNA1 KIF1A PIGL PIGP ARID1B RHBDF2 WNT7A SLX4 TRIM8 BRIP1 PIGQ MED25 FGFR1 FGFR2 SIK1 FANCB SCN9A SOX11 TBC1D24 RETREG1 HYLS1 FIG4 BMPR1A TRPV4 FANCM HOXD13 SMARCD1 SCN2A CTCF RAB23 KCNJ8 RIPK4 PALB2 LMNA TWIST1 DMXL2 ERCC4 GLI3 PNKP FANCF GNAO1 ROR2 TBR1 CANT1 SLCO2A1 FANCI ZMPSTE24 EP300 XRCC2 IHH SLC25A22 BMP2 SMARCE1 BRCA2 DACT1 GDF5 ACVR1 SOX9 FGFR3 FLI1 PTHLH SMARCA4 FANCC CREBBP RAD51C CASK COL3A1 ARID1A ACTB VAC14 C2CD3 EFNB1 TLL1 GATA4 ARX SALL1 FANCL SCN1B FANCE BHLHA9 SMARCA2 STXBP1 NEUROD2 UBE2T GJB6 UBE2A RFWD3 KCNN3 SMARCC2 FANCG WDR19 FANCA NEK1 MAD2L2 NOTCH2 BMPR1B LMBR1 PTEN RAD51 SMARCB1 CDKL5 TP63 KIF7 SATB2 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES ROR2 SOX11 SOX4 TBC1D24 NOG FIG4 TRPV4 DPF2 KCNH1 IHH SMARCD1 GPC4 KCNN3 ARID2 SMARCC2 SMARCE1 RAB23 GDF5 ACVR1 RIPK4 ARID1B PTHLH BMPR1B SMARCA4 PIGL HOXD13 WNT7A SMARCB1 TP63 ARID1A LMNA VAC14 HP_BROAD_PHALANX_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHALANX_OF_THE_TOES SIK1 EFNB1 GNAO1 FGFR2 SALL4 GATA4 ARX SALL1 BMPR1A SCN1B STXBP1 NEUROD2 ABCC9 GPC4 SCN2A SLC25A22 SUMF1 BMP2 HOXD13 CTCF DACT1 WDR19 GLI3 KCNJ8 ROR2 NXN FLI1 KCNA1 DMXL2 PIGP PTEN CASK CDKL5 TRIM8 PIGQ PNKP MED25 SATB2 FGFR1 HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES ROR2 SOX11 TBR1 SOX4 CANT1 NOG LMNA FIG4 ZMPSTE24 TRPV4 DPF2 KCNH1 SMARCD1 GPC4 KCNN3 ARID2 SMARCC2 HOXD13 SMARCE1 RIPK4 ARID1B PTHLH SMARCA4 SMARCB1 ARID1A MED25 VAC14 HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES FGFR3 TRPV4 FGFR1 FGFR2 HOXD13 IHH NOG FIG4 VAC14 RAB23 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES ROR2 SOX11 SOX4 NOG FIG4 TRPV4 DPF2 KCNH1 SMARCD1 GPC4 KCNN3 ARID2 SMARCC2 SMARCE1 RIPK4 ARID1B PTHLH SMARCA4 HOXD13 SMARCB1 ARID1A VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES IHH NOG FIG4 VAC14 RAB23 HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND EXT1 ATR DYM SRCAP FLNA COL2A1 RUNX2 EIF2AK3 BGN EVC TRPS1 TRIP11 IFT140 RMRP IFT172 NEK1 PRKAR1A FGFR3 GPX4 IFT52 GDF5 MRPS28 COG4 KIF15 IHH NPR2 EVC2 HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND LMNA FGF10 FGFR3 GJA1 FGFR2 MEGF8 HP_SHORT_PROXIMAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER KIF15 IHH BMPR1B COL2A1 MTOR FGFR3 GDF5 HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND LMBR1 BMPR1B SHH FANCD2 TRIO FIG4 VAC14 HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER ATRX TRPS1 BMPR1B GDF5 MRPS28 HP_STOMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATITIS ZAP70 SRP54 NPM1 ERAP1 TLR4 GFI1 LMBRD1 ZBTB16 IL1RN RARA CASP10 PRKDC NABP1 STAT5B NCF4 CARMIL2 FAS STAT3 MMACHC NUMA1 KYNU UBAC2 DCLRE1C NLRP12 IRF9 CCR1 RNF125 CD40LG STAT4 RHOH NOD2 MEFV HLA-B PRKAR1A FIP1L1 KLRC4 IL23R RASGRP1 IL10 NLRP3 IL12A PML HYOU1 IL17RC ORAI1 IL6 WDR1 BCOR PRKCD IL12A-AS1 ELANE C4A MVK TBL1XR1 IRF2BP2 TCIRG1 ITK FASLG HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY NOD2 IRF6 FGF10 FGFR3 BTNL2 TCOF1 MSH6 OGDH PSMB8 ATP2A2 FGFR2 PLAG1 TP63 GRHL3 HLA-DRB1 CXCR4 MLH1 MSH2 HP_APLASIA_HYPOPLASIA_OF_THE_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA FANCB FANCL FANCI FANCE FANCM XRCC2 UBE2T RFWD3 BRCA1 BRCA2 FANCG NXN FANCA ROR2 FANCD2 PALB2 MAD2L2 WDR35 FANCC RAD51C ERCC4 SLX4 RAD51 BRIP1 FANCF HP_PALATE_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALATE_FISTULA TP63 IRF6 ARHGAP29 BMP4 CDH1 DLX4 MSX1 DLG1 NECTIN1 HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE PTDSS1 TMEM107 CC2D2A MYMK ECM1 TCTN2 GLI3 PLCB4 PLXND1 PRRX1 TRIM37 TBX15 TMEM216 DHCR7 NEK1 LMNB2 VPS13B EDN1 REV3L GNAI3 OTX2 WDPCP TMEM231 B9D2 RBBP8 TMEM67 RPGRIP1 CEP290 SMO MKS1 RPGRIP1L CSPP1 CEP55 B9D1 BMP4 HP_ANKYLOGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOGLOSSIA ROR2 BCR MAPK1 TELO2 NXN CRKL MMP1 ZMPSTE24 RSPO2 COL7A1 TBX22 FAM111A LMNA HP_BIFID_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_TONGUE C2CD3 WDR35 DVL3 FREM2 IFT80 WNT5A HNRNPK DVL1 CEP120 DDX59 ROR2 RIPK4 NEK1 DYNC2H1 NXN GRIP1 DHCR7 FZD2 DYNC2I2 OFD1 MCTP2 FRAS1 ALX3 DYNC2I1 HP_ABNORMALITY_OF_DENTIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTIN TRIP11 COL1A1 DSPP SMOC2 COL1A2 SERPINH1 CDH11 IFITM5 FKBP10 PHEX SEC24D PPIB ZNF469 B3GALT6 HP_ABNORMALLY_LOW_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LOW_PITCHED_VOICE SETD5 GRIN2A HDAC8 KMT2A NSD1 SRPX2 EED SUZ12 RAD21 TRPS1 SMC3 NIPBL EZH2 SMC1A HP_SPINAL_DYSRAPHISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_DYSRAPHISM CLIP2 WNT7A POMT2 COLEC10 PUF60 SOX4 HES7 TBX1 FUZ DACT1 RECQL4 MEOX1 DPF2 RMRP KCNH1 GDF3 ARID2 SIN3A BRCA1 ZIC1 PLEC ITGB4 PAX3 POMT1 FANCD2 COMT GDF6 UFD1 ARID1B FLNA VANGL1 TBXT SLX4 MESP2 AMER1 KANSL1 BRIP1 PORCN MTR LARGE1 LIG4 ACTB FANCB CCL2 KIF22 SOX11 SEC24C GLI3 NOTCH3 TBC1D24 GTF2IRD1 GTF2I TBX6 FANCM SC5D SMARCD1 RREB1 IKBKG MEG3 CCBE1 RAB23 FKTN KIAA0586 RFC2 PALB2 RTL1 RIPPLY2 HIRA FIBP B3GLCT PTCH1 ERCC4 FLNB BRAF SALL4 PTPN11 NOTCH2NLC MTHFD1 FRAS1 FANCF MSX2 DLL3 PHGDH IRF6 RUNX2 SNRPB ZSWIM6 TBL2 NSUN2 PIK3CA FKRP FANCI MAFB TRIM36 NEK9 KCNQ1OT1 BMPER EP300 XRCC2 MYH3 GP1BB H19 ARVCF IGF2 SMARCE1 BRCA2 CCNQ MTRR INPP5E COLEC11 CEP290 SUFU FLI1 SMARCA4 FANCC CHN1 CREBBP RAD51C MAP3K7 NF1 MASP1 ALX4 HAAO POMGNT1 ARID1A BMP2 CSPP1 BMS1 TNXB BAZ1B LIMK1 POLA1 ELN LMX1B TMEM216 FREM2 FANCL GMPPB SLC25A19 FANCE VANGL2 CUL7 UBE2T RFWD3 MTHFR SMARCC2 FANCG FANCA RAF1 MAD2L2 GRIP1 LFNG JMJD1C RAD51 DLL4 SMARCB1 PTCH2 OFD1 B3GALNT2 RORA PSAT1 DLK1 RBM8A CHRNG HP_SPINAL_CORD_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_TUMOR NF1 NF2 CCND1 RELA SMARCB1 FLI1 VHL LZTR1 CREBBP C11orf95 HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY MFAP5 TGFBR1 SMAD3 LOX NOTCH3 MAT2A FBN1 TGFB2 TGFBR2 RASA1 PRKG1 FOXE3 ELN MYH11 TGFB3 FOXC2 ACTA2 NF1 KANSL1 MYLK SMAD4 HP_ABSENCE_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_THE_SACRUM TBXT PTH1R CCL2 VANGL2 HAAO FUZ ZIC3 FANCB VANGL1 HP_SHORT_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THORAX WDR35 TRAPPC2 ORC6 SLC2A1 ACAN HES7 COL2A1 DYNC2I2 DYNC2H1 BMPER RMRP OBSL1 EIF2AK3 FREM2 IFT140 CCDC8 ASXL1 MESP2 IHH FLNA PTH1R IFT80 SLC26A2 DYNC2LI1 WDR19 TBX6 DDRGK1 DYM IFT172 TRPV4 CUL7 EVC2 TRIP11 SLC10A7 DYNC2I1 NADSYN1 LFNG NEU1 RIPPLY2 EVC IFT52 KLHL7 CEP120 GLI1 FGFR3 TTC21B DLL3 HP_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIDOR SLC18A2 MYO9A VAMP1 PAX8 COQ2 SLC5A7 SCN4A SCARF2 TRPV4 CHAT SLC25A1 SLC52A3 TSPYL1 LAMA3 LAMB3 SERPING1 AGRN MIR140 SNAP25 COL13A1 IGHMBP2 MAP3K7 GTPBP3 SYT2 LAMC2 VPS33A D2HGDH PLP1 SLC18A3 GNPTAB FLNA HP_CHYLOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHYLOTHORAX KIF11 TSC1 TSC2 PIEZO1 FAT4 BTNL2 CCBE1 ADAMTS3 ALG14 CBL HLA-DRB1 HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS TP63 BNC1 HESX1 ORC6 LHX4 TBX3 ANOS1 NUP107 SPRY4 PROP1 FSHR PLXND1 PSMC3IP HS6ST1 DCC REV3L WDR11 DUSP6 CHD7 SEMA3A SOX10 FGF17 BMP15 CDC6 FGF8 PROKR2 USP9X FGFR1 DYRK1A TACR3 POU1F1 NR5A1 ORC1 IL17RD FEZF1 SOX3 ACTB CDC45 IKBKG FLRT3 NSMF CCDC141 FOXA2 KISS1R LMNA KCTD1 CDT1 NDNF MRPS22 PROK2 ORC4 TWIST2 GLI2 MAF GNRH1 TAC3 OTX2 ANTXR1 POLR3H YY1 SPIDR EFNB1 KISS1 GNRHR NIN POC1A GMNN FSHB ESR1 HP_PREMATURE_THELARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_THELARCHE KDM6A DYRK1A TANGO2 MMP14 EP300 MMP2 MKRN3 KMT2D CREBBP HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE CHRM3 DIS3L2 PTPN11 RIT1 A2ML1 MYH3 FBN1 RMRP SOS1 RAF1 LZTR1 SLC25A24 RRAS2 NRAS CANT1 RASA2 COLEC11 ATP7A MCOLN1 COL3A1 SKI MRAS KRAS FLNB MANBA XYLT1 ACTG2 CBL BRAF GPC4 CD96 RRAS GPC3 CHRNG SOS2 HP_ABNORMALITY_OF_THE_2ND_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_TOE MID2 ARHGEF6 CHSY1 TBC1D24 ZNF41 BMP2 RPS6KA3 AGTR2 ZNF711 PIGL MED12 PTCHD1 BMPR1B DMD UPF3B ZNF81 KCNN3 TSPAN7 RAB39B GDI1 BCOR ACSL4 PAK3 CNKSR2 IL1RAPL1 SLC9A7 USP9X FRMPD4 FTSJ1 IQSEC2 HCFC1 SYP USP27X ARX MECP2 DLG3 GDF5 CLCN4 CXorf56 ALG13 HP_ABNORMALITY_OF_THE_3RD_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_3RD_TOE SALL1 LMNA COG8 DACT1 BCOR HP_ABNORMALITY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_TOE TMEM107 PRKACB SOX4 CHSY1 EVC DYNC2I2 TMEM216 DYNC2H1 GLI3 DPF2 CIBAR1 NEK1 PDE6D ARID2 DDX59 SMARCE1 INPP5E CD96 EXTL3 WDPCP TMEM231 TRMT10A KCNJ2 RNF6 PPP1R15B IFT140 ARID1B TMEM67 MKKS EVC2 RPGRIP1 SMARCA4 MKS1 RPGRIP1L CSPP1 ARID1A CEP55 PLAA DLEC1 SMOC1 C2CD3 CC2D2A BBS2 SOX11 TCTN2 DYNC2LI1 BMP4 WDR19 SALL1 IFT172 SC5D DHCR7 KIAA0825 HOXD13 SMARCD1 KCNN3 CKAP2L TGFBR2 SMARCC2 B9D2 DYNC2I1 LBR FREM1 SETD5 LMBR1 CEP290 ALG3 CEP120 IFT80 SMARCB1 PIGH NPHP3 KIF7 TTC21B WWOX B9D1 HP_DEVIATION_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_5TH_TOE TRMT10A SALL1 KCNJ2 RNF6 PPP1R15B PIGH CKAP2L TGFBR2 CHSY1 WWOX DLEC1 ALG3 HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY ABL1 MEOX1 KDM6A CLIP2 CCDC174 NDUFA4 NFIX UBR1 PUF60 NDUFA13 NODAL STAG2 CALM3 DSG1 FBN2 TBX1 SF3B4 LONP1 SHANK3 FGFR1 BCOR TTC37 FANCI TSR2 IGBP1 MGP MEIS2 KCNA1 GDF6 CCDC22 SLC19A2 MLXIPL RSPO2 RAD21 PEX6 ARCN1 KANSL1 PIGQ SIK1 CITED2 CPLX1 PEX2 GDF1 PIK3R2 HDAC8 SEC24C NSD1 RPL15 COX7B SLC12A2 CACNA1D PET100 RPS19 GTF2I YY1AP1 NSD2 DHCR7 ASXL1 NDUFB11 TNFRSF11A ADA2 HYMAI THOC6 WT1 ARX WDR37 NDUFA12 EVC RPS26 DLK1 FIBP EP300 GLI1 FOXF1 PDHA1 ROR2 B3GLCT PALB2 BRF1 TBL2 OTUD6B DGCR8 FBN1 GPC3 PEX5 PEX26 PIK3CA WNT4 MEG3 PEX16 GP1BB SPECC1L SLC25A22 PEX13 ALKBH8 SMC1A TXNL4A NKX2-1 SALL4 CREBBP ECHS1 MASP1 GPC6 NF1 BRAF SKIV2L HRAS VAC14 C2CD3 LIMK1 WASHC5 TP63 CNTNAP2 MPLKIP NR2F2 SCN1B DTNA UQCRFS1 UBE2A FTO CKAP2L LARS2 PEX3 RPS15A NDUFA9 CDKL5 NDUFV1 DVL3 SMC3 MTFMT PEX14 CCND2 GLA RTL1 SYNE1 SURF1 HCCS IGF1R TKT MAP2K1 TBX5 SIX6 IFT172 TGDS TMEM94 COMT VIPAS39 LETM1 FOXRED1 MKKS MYBPC3 CDK8 ACVR2B RPL11 CDC45 SMG9 GPC4 MED25 FOXC2 MYPN NAA10 CRKL PIGL NDUFAF6 ZEB2 SOS1 PQBP1 DDX11 SCN2A RPL10 PEX10 RAB23 RIT1 RPS10 TACO1 MAPK1 PSMD12 NOTCH1 DYNC2LI1 DMXL2 MED12 TRAIP ERCC2 TFAP2B DGCR2 MYCN NONO GNAO1 GTF2H5 NDUFV2 TMEM260 NDUFS7 KAT6A TCIRG1 AKT3 ARHGAP31 RPS24 SLC19A3 KAT6B RPS28 GJA1 TTC7A TCTN3 WDR26 NKX2-5 NDUFS2 SDHA RPL18 NOTCH2 DYNC2I1 TGFB3 SOX2 ELN B3GALT6 NDUFAF2 NDUFAF5 STRA6 STXBP1 HNRNPK GATA6 RPL5 WAC SLC29A3 CWC27 CSGALNACT1 PACS1 NDUFA2 SEC31A VPS33B PEX11B TET3 TBX3 KRAS GLI3 UMPS MGAT2 RNF113A HOXA13 DGCR6 CD96 COG6 UFD1 ARID1B XYLT1 BSCL2 AMER1 NDUFA10 KAT8 NUP107 RAI1 ANKRD11 PLAGL1 KDM3B TBC1D24 ACADVL NUP188 GTF2E2 ZNF462 NOTCH3 HYLS1 GTF2IRD1 RPL35A NEK9 ESS2 VPS13B RREB1 ESCO2 RPL35 RFC2 TBCK SETD5 RPL31 HIRA GATA4 RRAS2 FLNB SEMA3E PEX1 EOGT PNKP NKAP DYRK1A BCR PKD1L1 SOX4 SNRPB DPH1 NRXN1 ADAMTS10 LRP2 SMAD4 GATA1 LTBP2 RPL26 CHD7 CEP290 EXT2 LBR PTPN11 KMT2D INSR RNU4ATAC BMP2 POLA1 GYG1 SHOC2 SETD2 CDK13 ATRX IFT81 NEUROD2 PHGDH NDUFS8 NDUFS1 LIPT1 CTU2 ZIC3 RERE JMJD1C MT-CYB CHD4 RPL27 CHRM3 TAPT1 RAC1 DLL4 NIPBL ERCC3 PEX12 MIR17HG MYOCD MYRF XYLT2 GDF3 CHST3 NXN MMP2 COL11A2 PIGP PEX19 RPS17 CACNA1C TRIM8 FADD JAG1 NDUFS3 EFTUD2 FIG4 APC2 MAP2K2 SVBP CANT1 CCBE1 PIEZO2 MYL2 RPS7 KMT2A GATA5 CEP57 PPP1CB TARS1 COX15 SMN1 FGFR2 SATB2 MMP14 PPP2R5D MED13L NEK1 CTBP1 ARVCF FGFRL1 FLI1 LRP5 CASK AFF4 RPS29 TALDO1 TAB2 BAZ1B RARB DNAJC19 TASP1 CRB2 SALL1 ERBB3 EVC2 PORCN NDUFS4 RPS27 STAMBP PAH RBM8A UBE3B ECE1 HP_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYDACTYLY WDR35 IFT43 SALL4 PROP1 ARMC9 EVC TBX1 TMEM231 PHF8 LMBR1 IFT140 RPGRIP1 CCDC22 BBS12 IFT27 B9D1 BBS4 CEP55 OFD1 CPLX1 PIK3R2 SEC24C GLI3 FBLN1 NEU1 CEP164 IFT172 NSD2 DHCR7 KATNIP KIAA0586 RPGRIP1L DYNC2I1 WDR19 KIF3B C8orf37 KIF7 EP300 GLI1 NPHP3 TTC21B TMEM107 FGF10 LHX4 TFAP2A TMEM67 GPC3 CC2D2A DEAF1 PIK3CA CIBAR1 INPP5E GP1BB SETD5 NELFA DYNC2H1 TMEM237 DYNC2I2 MKS1 DYNC2LI1 AKT3 PLAA SETBP1 C2CD3 GDF5 SALL1 MBTPS2 GJB6 AHI1 INTU IGF2 HESX1 PURA GLI2 SHH BBS7 EFTUD2 ARL6 LBR IFT52 SUFU EBP CEP104 MEGF8 CCND2 FGFR2 TMEM216 CSPP1 NCAPG2 BBS5 LETM1 COMT MKKS FLNA BHLHA9 TTC8 CDC45 GPC4 CD96 TCTN1 TGFBR1 GDF6 IFT80 TCTN2 RBM10 SYNGAP1 TRIM32 BBIP1 CHST11 COLEC10 BMP4 CREBBP SC5D RAB23 BBS9 TMEM138 KCNAB2 IFT57 SMO PTCH1 TFAP2B LZTFL1 BBS10 EVC2 ZSWIM6 CEP120 GJA1 CHN1 TCTN3 PIBF1 PPP2R1A NPHP1 GABRD FOXA2 DDX59 KIAA0825 HNRNPK ZNF141 TRAF3IP1 RERE FANCB TMCO1 TBX3 CHSY1 WDPCP HOXA13 SH2B1 EXTL3 COG6 USP9X UFD1 B9D2 FLII POU1F1 RAI1 BBS1 HYLS1 FAM149B1 HOXD13 RREB1 CPLANE1 HIRA PDE6D ZIC3 SEMA3E TGFBR2 KIAA0753 MAFB NEK9 WASHC5 PRKACA PITX1 CHD7 CEP290 ARL13B INSR SKI SMOC1 BBS2 CEP41 IFT81 IQSEC2 ACOX1 NEK1 FGFR3 NKX2-6 CTU2 JMJD1C CDCA7 STAG2 PTCH2 UQCC2 WNT7A ABCA12 PORCN CILK1 PTEN IQCE CCDC28B PRDM16 IFT74 PNPLA6 CENPF BLM GATA6 PRKACB HMGA2 ZNF423 NKX2-5 CTBP1 ARVCF DACT1 ARL3 FGFRL1 FLI1 TWIST1 ADNP DYRK1A ALX3 EFNB1 H19 TASP1 PUF60 FANCD2 PLAG1 CRB2 SDCCAG8 DYNLT2B CDKN1C BMPR1B OTX2 HP_PULMONARY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INSUFFICIENCY SFTPA1 MUC5B DPP9 DNAL1 PARN COL1A1 ATP11A FOXF1 TERC RTEL1 COL1A2 SFTPC SFTPA2 DSP ABCA3 INVS TERT ADA EFEMP2 GNPTAB FAM13A STN1 HP_TRICUSPID_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_STENOSIS RPS19 FBN1 MYCN ADAMTSL2 CHST3 HP_ESOPHAGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STENOSIS USB1 PGM3 TINF2 NOP10 SAMD9 RTEL1 NPM1 ACD LAMA3 LAMB3 TERC CTC1 COL7A1 WRAP53 PARN TERT NHP2 LAMC2 COL4A5 DKC1 MMP1 FERMT1 HLA-B IKZF1 COL4A6 HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN NME8 TWIST1 SPAG1 TMEM107 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 DNAH5 TTC25 RSPH4A TMEM216 DNAAF5 MKS1 CCDC151 ATRX ARMC4 DNAL1 DNAH11 WDPCP TMEM231 RPSA CCDC40 WNT3 DNAH9 TMEM67 RPGRIP1 HYDIN FOXF1 CCDC114 RPGRIP1L CSPP1 CEP55 DNAI2 NEK8 ZEB2 CC2D2A NPHP3 LRRC56 GDF1 SAMD9 RELN TCTN2 DNAAF1 CCDC103 AIRE DNAH1 ZMYND10 STRA6 CFAP221 MYCN CCNO DNAJB13 DNAAF6 MCIDAS FAM111A STIM1 DNAI1 SPEF2 B9D2 CFAP298 LRRC6 DRC1 MNS1 CEP290 ZIC3 FOXJ1 ORAI1 OFD1 CCDC39 RSPH3 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 B9D1 HP_ACETABULAR_SPURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_SPURS DYNC2H1 COL2A1 EVC2 DYNC2I1 EVC HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY EXTL3 FGFR3 DYM SLC26A2 SBDS GPX4 GPC3 CFAP410 GPC4 DDRGK1 GUSB PCYT1A ALG9 SRP54 COL11A1 INTU COL2A1 DNAJC21 HP_FEMALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_PSEUDOHERMAPHRODITISM AR NR3C1 CYP19A1 FRAS1 GRIP1 SPECC1L CD96 FREM2 HP_TRUE_HERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUE_HERMAPHRODITISM TMEM107 WDPCP TMEM231 CC2D2A B9D2 SRY SOX9 TMEM67 TCTN2 RPGRIP1 CEP290 MKS1 TMEM216 RPGRIP1L CSPP1 WT1 NR5A1 CEP55 B9D1 HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA RAD51D RAD51C WDR35 CLIP2 WT1 UBR1 CYP11A1 ANOS1 HES7 IL10RB FSHR FOXL2 CXCR4 C11orf95 FDXR PEX5 WNT5A LARS2 SF3B4 RAD51 BRCA1 PMS2 KRAS RTEL1 PROKR2 IFT27 AKT1 PEX6 NR5A1 ZFPM2 GATA3 TGFBR1 IL17RD LIG4 MAGEL2 HDAC8 SNRPN TBX15 DHH NSD2 TSC2 DHCR7 FANCM MSX1 HYMAI THOC6 ITGA8 POLD1 NDN APC MSH6 BSCL2 GLI1 PHKA2 EPCAM JAK3 MLH3 PDE4D LHB TBL2 PEX26 XRCC2 GP1BB WDR11 CCNQ HESX1 MEN1 HERC2 DYNC2I2 FGF8 ORC1 IDH2 VAC14 MAP3K1 RAB3GAP2 LIMK1 TP63 CORIN PTPN11 DCAF17 GMNN EWSR1 KISS1R NPAP1 BLM DVL3 SMC3 KIF7 POF1B DKC1 SNORD116-1 CHRNG WRN TBC1D20 F7 PDGFRL MAMLD1 PSMC3IP DHX37 DCC RECQL4 BRIP1 RBM8A SEMA3A CDC73 ATIC FANCD2 COMT MKKS MKRN3 SNORD115-1 WNT7A FIGLA ANAPC1 KISS1 MCM3AP BUB3 PEX10 TWIST2 PEX2 BBS9 FH PAX6 DYNC2LI1 TRAIP B3GLCT IQCB1 DICER1 NR0B1 TACR3 DLL3 MCC UBE3B NSUN2 RAB3GAP1 WNT3 RNF43 OCA2 IFT172 SLC25A24 PTEN CHEK2 NDUFB11 NOBOX AR DVL1 FANCC HARS2 STOX1 PPP2R1A BMP4 IDH1 ZEB2 SDHB ELN NPHP1 FOS FGFR2 IFT80 NOP10 STRA6 SOX9 HCCS MAD2L2 SDCCAG8 TTC8 PTPN12 PAX3 LMNA BMPR1A PTCH1 PPP1R12A FRAS1 RERE POC1A PEX11B STK11 INSR TBX3 NUP107 PALB2 HOXA13 MKS1 FGF17 CD96 CDKN1B FAS HFM1 PIGN UFD1 CDH23 SLX4 SEC23B PTPRJ RIPK4 FEZF1 PIK3CA PLAGL1 BBS1 GREM1 GNAS CYP11B1 TNXB FAN1 GTF2IRD1 TSC1 SMCHD1 ESCO2 KLLN RFC2 TP53 SEMA3E RPS6KA3 PRKAR1A ORC4 SOX3 ESR1 LIPE GALT ATR PMM2 ORC6 HSD3B2 POLG LRP2 ALG9 FLI1 SDHD SUFU RET CYP19A1 TTI2 BUB1 SMAD3 FGFR3 SRC FANCE CAVIN1 RARB RIN2 GRIP1 BRCA2 HS6ST1 JMJD1C MT-CYB PTCH2 BMPR1B FMR1 NDP CYP17A1 CTNNB1 EIF2B4 MMP2 HYLS1 GREB1L CDH1 PORCN USB1 NR3C1 AKT2 TOE1 CCDC28B NIPBL GALK1 FANCB POR PRDM16 LONP1 PEX16 CEP57 MLH1 SDHC AGPAT2 ERAL1 FANCF COL4A6 NRAS TINF2 AARS2 MMP14 DMPK COX7B MSH3 EP300 CHD7 ARVCF DACT1 AIP SOX10 COL7A1 ATM ISL1 PPARG TALDO1 BAZ1B CDC45 ESR2 FANCL SALL1 ANTXR2 EVC2 PROK2 POLR1D CLPP GNRH1 LFNG RELA TLR2 SEMA4A OPCML SALL4 RAC3 BUB1B TBX1 SPINT2 TRAF3IP1 SLC6A17 BCOR FREM1 CPLX1 KIF14 SEC24C GTF2I DLC1 SETBP1 USF3 RSPO2 MRPS22 PRKCD PALLD EVC DMRT3 IRF6 FGF20 AURKA STAG3 SPECC1L PEX13 SMC1A GATA4 CDC6 EIF2B2 DYNC2H1 COL3A1 PHKG2 DHCR24 PWAR1 EIF2B3 C8orf37 RAB18 RASGRP1 CEP290 AIRE CDT1 MSH2 INTU MNX1 CTC1 ARL6 MCM8 BARD1 PEX3 COL5A1 FZD2 FLT1 TRAF3IP2 PEX14 SPRY4 NIN NBN BNC1 POLR1C CDKN2A TERC SRY LETM1 MESP2 FGFR1 ACTB USP8 TRIM32 BBIP1 MYC CBX2 CTCF KCNAB2 TAC3 RIPPLY2 ERCC4 VAMP7 GNRHR NSMF SOHLH1 SETD2 KEAP1 NPM1 INVS BMP15 ARHGAP31 RCBTB1 KAT6B IL17F WNT10A WDR19 GABRD FREM2 TRIP13 WNT4 NDNF UBE2T B4GALNT1 PLA2G2A RAD54B PLG SMAD4 RAD21 MRE11 RSPO1 MTM1 GLI3 EIF2B1 WDPCP AXIN2 LZTFL1 HNF1B ALMS1 DUSP6 COL5A2 ARID1B PLIN1 TERT STAT6 TBX6 BBS10 COL1A1 LMNB2 RREB1 HIRA POLR3H SPIDR PEX1 NTHL1 FANCI TWNK CASP10 CEP164 SETD5 SIM1 CYB5A BAX AXIN1 SKI GAD1 BBS7 MYH3 PHGDH CLEC7A ROR2 WRAP53 MDM2 NPHP3 NHP2 CCDC141 ECEL1 RAD50 FASLG CHRM3 POLE CEP152 PEX12 MYRF TGFBR2 LEP NXN PEX19 PCNT CAV1 FIG4 CIDEC FLCN IL17RC SRD5A2 EIF2B5 BBS5 KMT2A PARN BBS4 PRLR ZMPSTE24 DYNC2I1 TCTN3 FSHB BBS12 IL17RA CCND1 DMRT1 CTBP1 PMS1 PWRN1 HOXD13 FGFRL1 CREBBP NPHP4 COL4A5 DIAPH2 HNF1A TCOF1 FLRT3 RPS20 PRKN RFWD3 FANCG NAB2 FANCA LEPR OFD1 HNF4A NR2F2 BBS2 WWOX HP_APLASIA_HYPOPLASIA_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY TP63 BNC1 BBS12 WT1 NDNF NUP107 SPRY4 FSHR PSMC3IP ARL6 WDPCP SOX9 HS6ST1 GNRH1 LZTFL1 NR5A1 LARS2 IFT172 WDR11 PMM2 DUSP6 GATA4 BMP15 LEP FGF8 MKS1 HARS2 IFT27 FIGLA FGFR1 CEP290 BBS1 C8orf37 NPHP1 NSMF DHH KISS1R TRIM32 BBIP1 BBS7 ZFPM2 CHD7 SRY BBS10 SDCCAG8 SETBP1 MKKS PTPN11 ANOS1 MRPS22 BBS5 PROKR2 BBS9 DHX37 MCM8 PAX6 BBS4 TAC3 LEPR TTC8 FGF17 DCAF17 PPP1R12A POLR3H PROK2 NR0B1 SPIDR MAP3K1 ERAL1 TACR3 VAMP7 KISS1 DMRT3 GNRHR BBS2 WWOX HP_STREAK_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STREAK_OVARY BNC1 WT1 NUP107 DHH FSHR PSMC3IP SOX9 NR5A1 ZFPM2 SRY SETBP1 MRPS22 DHX37 GATA4 BMP15 PAX6 DCAF17 HARS2 FIGLA PPP1R12A POLR3H NR0B1 SPIDR MAP3K1 ERAL1 VAMP7 DMRT3 WWOX HP_PRECOCIOUS_PUBERTY_IN_FEMALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRECOCIOUS_PUBERTY_IN_FEMALES FOS CAVIN1 AGPAT2 PPARG BSCL2 CAV1 ALMS1 HP_ABSENT_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TESTIS FANCB GDF6 DHX37 FANCL FANCI FANCE FANCM XRCC2 UBE2T RFWD3 BRCA1 BRCA2 FANCG FANCA FANCD2 PALB2 MAD2L2 FANCC RAD51C ERCC4 SLX4 RAD51 BRIP1 FANCF TCTN3 HP_OLIGOSACCHARIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSACCHARIDURIA MAN2B1 MIR140 OCRL GAA MANBA NEU1 SNX14 FUCA1 HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION ALAS2 CPOX FECH GATA1 UROS PPOX HP_PORPHYRINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORPHYRINURIA HFE SLCO1B1 CPOX PPOX HMBS SLCO1B3 HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER FREM2 ITGB4 ITGA6 PLEC MBTPS2 GRIP1 WNT4 LAMC2 LAMA3 LAMB3 MKS1 HP_URETHRAL_VALVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_VALVE CHRM3 NSD1 SRCAP HPSE2 SETD2 BNC2 SALL1 APC2 IGF2 DACT1 HP_HYPEREXTENSIBILITY_AT_ELBOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_AT_ELBOW SMC1A KMT2A SON COL5A1 IFITM5 HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES PLOD3 RAPSN PIEZO2 SLC18A3 AUTS2 MYH3 NUP88 NALCN DOK7 MYOD1 CHST14 DSE SLC39A13 MUSK HP_ABSENT_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PALMAR_CREASE RAPSN SLC39A13 PIEZO2 SLC18A3 MYH3 MUSK NUP88 NALCN DOK7 MYOD1 HP_SIRENOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIRENOMELIA GREB1L RET TBC1D24 AKT1 ITGA8 FGF20 PTEN DACT1 HP_PATELLAR_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_SUBLUXATION TBC1D7 COL12A1 FBN2 USP9X YY1 HP_HYPEREXTENSIBILITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_KNEE COMP CTDP1 ANO5 SKI GRIA3 FGFR3 AP4M1 TRIP11 SLC6A9 KRAS AP4B1 AP4E1 AP4S1 COL1A2 SH3PXD2B CANT1 PTEN CDT1 FGD1 MCOLN1 NRAS COL5A1 XYLT1 FBN1 HRAS B4GALT7 WASF1 HP_LIMITATION_OF_KNEE_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_KNEE_MOBILITY SCN1A STXBP1 FLNA GABRG2 COL2A1 PCDH19 STX1B GABRA1 FLNC SCN2A ADGRV1 GABRD DYSF MYOT HCN1 MAP3K7 TOR1A SCN1B GPC6 CSGALNACT1 SCN9A ATP7A EZH2 HP_FIBULAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_BOWING CYP27B1 SLC34A3 VDR CYP2R1 FGFR3 PHEX CLCN5 HP_LIMITATION_OF_MOVEMENT_AT_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES MAP3K7 NIPA1 FLNA UBE3A ZMPSTE24 MYH7 OCA2 LMNA HP_METATARSUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_VALGUS FKTN BMPR1B POMGNT1 POMGNT2 INPP5K DAG1 POMK POMT1 LARGE1 HSPG2 FKRP CRPPA B4GAT1 SIL1 GDF5 B3GALNT2 TGDS COL4A1 RXYLT1 POMT2 AKT1 PTEN HP_LONG_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TOE COL12A1 FAM20C PUF60 RTL1 B4GALT7 MEG3 SCARF2 DLK1 ZEB2 PHF8 COL6A2 KCNN3 LARS1 NSDHL PRKAR1A TMEM94 SOX5 SMS GNE FLI1 POLR3A NPR2 IRX5 FIBP COL6A3 CPT2 COL6A1 GATAD2B XYLT2 FBN1 KCNH1 TBX4 HP_HYPERPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPITUITARISM TEX15 BNC1 TRAF7 CYP11A1 TERT HPGD NUP107 CDKN1A FSHR POLA1 FOXL2 PSMC3IP AIP NR5A1 NANOS1 PRKAR1A LARS2 MEN1 SMARCE1 ZMYND15 PMM2 CDKN1B CYP17A1 HFM1 CDKN2C DHX37 FIGLA CDH23 FMR1 ERCC6 CYP11B1 WT1 GNAS CTNNB1 CDKN2B FANCM ZFPM2 SRY TAF4B XRCC2 POR PRLR MSTO1 CNBP SUFU POLR3A BAP1 POLR3H NR0B1 SPIDR GPR101 SMARCB1 TEX11 VAMP7 DMRT3 ESR1 HSD3B2 SLCO2A1 SOX9 SYCP3 STAG3 NF2 SOHLH1 MEIOB GDF9 PDGFB GATA4 BMP15 LHCGR AR CBX2 NSMCE2 CYB5A HSD17B4 PPP2R3C ESR2 AKT1 KISS1R CFTR TDRD9 BRAF MRPS22 SYCE1 MCM8 DHH TEX14 KLHL10 PIK3CA MAP3K1 WWOX SMO HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS SEC24C DCLRE1C RAG1 TBX1 ATM TP63 PEX5 IL2RG POLR1C AK2 ANTXR2 NEK9 GP1BB ARVCF NSMCE3 RREB1 RORC WIPF1 POLR1D TTC37 CHD7 COMT G6PC3 WAS UFD1 TTC7A HIRA RAG2 JMJD1C ADA SEMA3E SKIV2L TCOF1 HP_THYMUS_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYMUS_HYPERPLASIA VANGL2 ALG14 MTHFR AKT1 PTEN HP_DYSLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSLEXIA TMEM106B GABRB3 CACNA1H GCLC CHMP2B SQSTM1 APC DNAAF4 JRK PNKP VCP C9orf72 MAPT GRN PLA2G6 PSEN1 TREM2 STIM1 MAP1B SARDH OPA3 GABRG2 GABRA1 SLC2A1 HP_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGNOSIA MLH3 TMEM106B TYROBP ATP6AP2 ABCA7 FAN1 PIK3CA RPS20 C9orf72 MAPT CHMP2B TREM2 PMS1 TGFBR2 PMS2 KRAS SORL1 MSH6 ABCD1 GRIN2A PSEN1 SEMA4A BMPR1A MSH2 MLH1 GRN TOMM40 CEP85L PSEN2 EPCAM APP HP_FINGER_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_AGNOSIA SORL1 TREM2 ABCA7 TOMM40 PSEN1 PSEN2 APP HP_DYSGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGRAPHIA TMEM240 MLH3 TMEM106B CLIP2 SPG21 PSEN1 TBL2 CHMP2B SQSTM1 ABCA7 PIK3CA MAPT FGF14 GRN PMS1 TGFBR2 PMS2 TREM2 C9orf72 KRAS VCP TOMM40 PSEN2 APP BAZ1B LIMK1 ELN FAN1 SOX6 RPS20 GTF2IRD1 GTF2I SORL1 RFC2 MSH6 SEMA4A BMPR1A MSH2 MLH1 EPCAM HP_ECHOLALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECHOLALIA CHMP2B SQSTM1 SLC35C1 PSEN1 ATP6AP2 AMER1 PUF60 TCF4 HERC2 FLCN VCP COX7B COL1A2 ACTG1 PLEC SMARCA2 TMEM106B MAPT UBE2A CKAP2L GRN NDUFB11 C9orf72 ACTB RAI1 SLC25A13 HCCS HDC COL1A1 NAGS FGFR1 SLITRK1 EHMT1 KRAS TREM2 ADAMTS2 HP_TRANSIENT_GLOBAL_AMNESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_GLOBAL_AMNESIA P2RY11 BAP1 TRAF7 TERT SUFU AKT1 HCRT HLA-DQB1 PIK3CA TNFSF4 ZNF365 MEN1 NF2 SMARCE1 CTSH HLA-DRB1 SMARCB1 MOG PDGFB SMO HP_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_APNEA LARP7 VAMP1 RPS6KA3 TCF4 PLCB4 USP7 AIP SLC25A1 ASCL1 PRMT7 PIGT FGFR3 FGFR2 TWIST1 PRPS1 COL13A1 MKRN3 SNORD115-1 IDS AHDC1 TERT ARCN1 NADK2 MAGEL2 SOD1 NALCN P4HTM NDN CTNNB1 SNRPN SKI FLCN SH3BP2 POGZ CREBBP GSN FXR1 GNAI3 GRIN2A OCA2 SYT2 EP300 DCTN1 DNA2 COLQ RERE VPS51 CEP57 NONO GNPTAB RUNX2 SATB2 DMPK PCGF2 TSPYL1 SRPX2 IDUA PHOX2B GABRG2 TRPV4 PRPH UNC80 GPR101 ATN1 NGLY1 PWRN1 RAI1 SNAP25 SIM1 DKK1 LAMB2 HERC2 SYT1 AFF4 PWAR1 SLC5A7 BMP2 HRAS C2CD3 MYO9A SPOP COQ2 CHAT CCDC47 BRAF EDN1 AGRN LRRC32 NFIX GNE COL3A1 LTBP3 NPAP1 RET NEFH SNORD116-1 SLC18A3 DPH1 HP_CENTRAL_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SLEEP_APNEA MAGEL2 MYO9A VAMP1 COQ2 FGFR3 PHOX2B CHAT SLC25A1 ASCL1 NGLY1 CCDC47 PIGT USP7 PRPS1 AGRN SNAP25 COL13A1 SIM1 DKK1 SYT2 RET NADK2 SLC5A7 SLC18A3 HP_WIDE_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_CRANIAL_SUTURES ALPL MSX2 VDR CYP2R1 RBM10 FIG4 REN DCHS1 LMNA ZMPSTE24 POLR3A CYP27B1 SLC34A3 AGT MMP2 CRTAP MED12 FAT4 ACE PEX1 ALDH18A1 BANF1 SETBP1 VAC14 AGTR1 HP_OPSOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPSOCLONUS CLCN7 KIF1B TCIRG1 GBA SNX10 TNFSF11 HP_VERTICAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_NYSTAGMUS PIGQ PRRT2 CACNA1A ANO10 TTBK2 PEX5 SCN1A AHDC1 PET100 PLA2G6 ATP1A2 MRE11 PIGN COQ2 HP_MUSCLE_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBRILLATION TRAK1 SLC52A2 ATXN3 DYSF DNM2 NOP56 SCN1A SLC52A3 ADPRS TSPYL1 AIFM1 IFRD1 FXR1 SMN1 CACNA1A HSPB1 ASAH1 OPTN SMN2 RMND1 MYF6 EXOSC3 UBA1 MTMR14 PRRT2 RYR1 BIN1 KCNK9 TBCD AGTPBP1 GARS1 VCP SH3TC2 HINT1 ATP1A2 SLC25A21 HP_MUSCLE_FLACCIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FLACCIDITY SCN4A PEX6 UBE3B KCNE3 COL1A1 CACNA1S COL1A2 INPP5K PEX1 GABRA3 KCNJ18 PLEC SIL1 LAMP2 HP_PERCUSSION_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERCUSSION_MYOTONIA DNAJB6 CAV3 HINT1 SCN4A CLCN1 CAVIN1 SVIL HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION RNASEH2B NDUFA4 PDHX ANOS1 SLC2A1 WDR62 SQSTM1 WDR48 NDUFA13 MT-TS2 AP4M1 SLC25A15 KIDINS220 SMARCE1 CEP290 MAG MT-CO3 NADK2 KIF5A PMS2 TTPA BCOR KRAS TRMT10A AP5Z1 GNAQ KY SAMHD1 CPT1A GDF6 PROKR2 RTN2 EOGT FUS USP45 LCA5 MT-ND1 ATP13A2 FGFR1 VCP NOTCH1 SLC33A1 LARGE1 SOX10 IL17RD SELENOI PRPS1 STAT4 SMARCB1 KIF1A PRF1 SLC25A10 SPG7 MT-TF ARSA RBPJ IL23R SP110 GBA PET100 NEXMIF GBA2 CYP26C1 ALDH18A1 SPART CBS B4GALNT1 CCT5 AFG3L2 MT-CO1 MSH6 NDUFA12 SETX HPDL LIMS2 MT-ATP8 GAN OPA3 PDHA1 EPCAM MLH3 SPG11 MT-ND5 MT-TC GUCY2D GABRA3 ZFYVE27 GALC CFH TBK1 TBC1D24 DSTYK RAB3GAP2 HESX1 ARHGAP31 AIFM1 PPP1R15B SDHAF1 COL3A1 MT-ND6 UBAC2 CYP2U1 SLC1A3 SDHA GOT2 HINT1 FGF8 TREX1 NUP62 WDR4 VAMP1 MPLKIP AKT1 DNASE1L3 NHLRC2 PEX3 PNPLA6 MT-TL1 IL12A KCNJ18 C12orf65 ENPP1 TBCE CKAP2L NNT NOTCH3 IMPDH1 TP53 RNASEH2C WDR73 IRAK1 GBE1 ATP1A3 DDHD1 C4A CARS2 NDUFA9 L1CAM PRNP MC2R NF2 NDUFV1 IFT140 IFIH1 GJC2 CCDC88C POMT2 DPYD TRAF7 SURF1 AIPL1 SPATA7 DCC PAX3 MT-CYB PTEN MEOX1 TUBB2B ARL6IP1 IBA57 PEX7 SEMA3A ECHS1 POMT1 COL4A1 CFHR1 FOXRED1 RHOBTB2 FA2H CCR1 DOCK8 SLC30A10 PCYT1A C9orf72 ARX STXBP1 MT-TQ GJA1 TECPR2 TLR3 AMPD2 BSCL2 HLA-DQB1 ALAD NDUFAF6 ABCD1 MT-TW ATP1A2 AP4S1 WDR11 TTR FKTN TACO1 CYP7B1 TP53RK NF1 PRTN3 KCNAB2 ANGPTL6 SUFU SLC16A2 PLP1 WASHC5 CACNA1S ERCC2 AP4B1 APOA1 EXT2 SUOX NSMF TARDBP TSC1 GTF2H5 NDUFV2 KLC2 ERAP1 NDUFS7 KCNT1 SOX3 HACE1 SLC19A3 HLA-DPA1 CPT1C CACNA1D TXNRD2 OSGEP TNFRSF11A ADGRG1 TACR3 NDUFS2 POMGNT1 THSD1 CTLA4 GJB6 ZFR MEFV B3GALT6 HLA-B NDUFAF2 GABRD SPOP AIMP1 NT5C2 NDUFAF5 CACNA1A GMPPB SRPX2 NDNF PTPN22 IDUA MT-ND4 AP4E1 SDHB INTS8 GJB2 UGP2 NAGA BMPR1A CLTC CRB1 B3GALNT2 KISS1R RERE NDUFA2 PPOX RDH12 DNM1L RRM2B MARS1 ALS2 VPS37A RNF113A SPP1 MTPAP FGF17 NIPA1 CTC1 BTD NAXE MT-ATP6 COL4A2 NDUFA10 PAFAH1B1 EXT1 FEZF1 NUP133 FAN1 GTF2E2 KCNJ13 IL10 FAS FLRT1 IKBKG TPRKB MICOS13 RPE65 WDR45B GUCY1A1 MTHFR PNPLA8 ARSI BAP1 TGFBR3 ASAH1 KDM5C MAN2B1 ADAR UBAP1 ADA2 RPGRIP1 FKRP ATL1 DDHD2 TFG ARG1 PNKP SPG21 LMNB1 PDGFB BCAP31 CHCHD10 TULP1 ENTPD1 AGTPBP1 RD3 NAGS LRP4 FARS2 PNP SKI MT-TV HPRT1 SCN1A GAD1 C19orf12 OTX2 COASY MT-CO2 PGAP1 NDUFS8 MT-TH NDUFS1 LIPT1 IL12A-AS1 REEP2 HS6ST1 MSH2 CCDC141 CFHR3 ATP6AP2 SMO IQCB1 ERGIC1 DLL4 TERT MMUT ERCC3 TPP2 LRAT GDF3 RASA1 SDHD TGFBR2 STAR CHD7 GPT2 ARNT2 REEP1 SARDH GJB1 ABCA1 ZFYVE26 SAMD9 NDUFS3 ATRX MTFMT CRX PAH ABCC6 PRDM16 TTC19 SPAST MLH1 MT-TK ERLIN2 TARS1 POLG HSPD1 COX15 LYST PIK3CA TBCD TLR4 SLC12A6 UCHL1 MED13L RNF216 NEK1 RNASEH2A TRAPPC2L NMNAT1 PMS1 DOCK6 LAGE3 ENG TOE1 OPA1 MRAP WDR45 FLRT3 DUSP6 KLRC4 SPRY4 EDNRB RPS20 SNORD118 CAPN1 PEX16 MTOR PDGFRB LAMB1 HLA-DPB1 PROK2 PI4KA RANBP2 SOX2 PHYH PRRT2 USP8 NDUFS4 SEMA4A ARFGEF2 TSC2 NUP107 HP_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA NT5C2 SPG11 NDUFA4 DNM1L PDHX ANOS1 MARS1 SLC2A1 WDR48 ALS2 NDUFA13 VPS37A AP4M1 SLC25A15 KIDINS220 MAG KIF5A FGF17 AP5Z1 NIPA1 KY PROKR2 RTN2 ATP13A2 NDUFA10 SLC33A1 IL17RD SELENOI FEZF1 KIF1A SPG7 CPT1C SP110 GBA PET100 GBA2 FLRT1 B4GALNT1 CCT5 AP4B1 AP4E1 ALDH18A1 PNPLA6 NDUFA12 WDR45B SETX HPDL ARSI VCP GAN PDHA1 KDM5C MAN2B1 RNASEH2B UBAP1 ATL1 DDHD2 TFG ZFYVE27 SPG21 DSTYK RAB3GAP2 HESX1 ENTPD1 NAGS CYP2U1 MT-ATP6 FARS2 FGF8 VAMP1 PEX3 PGAP1 NDUFS8 L1CAM CKAP2L NDUFS1 FA2H LIPT1 REEP2 GBE1 HS6ST1 DDHD1 NDUFA9 CCDC141 NDUFV1 GJC2 SURF1 DCC SPART PAX3 ARL6IP1 RASA1 CYP7B1 IBA57 CHD7 SEMA3A ECHS1 FOXRED1 GPT2 REEP1 STXBP1 ZFYVE26 TECPR2 SAMD9 NDUFS3 ATRX AMPD2 PLP1 MTFMT NDUFAF6 BSCL2 ABCD1 AP4S1 WDR11 TTR PAH TACO1 SPAST SLC16A2 WASHC5 AIFM1 ERLIN2 HSPD1 COX15 NSMF NDUFV2 LYST KLC2 NDUFS7 UCHL1 C19orf12 HACE1 SLC19A3 SOX10 CACNA1D C12orf65 FGFR1 TACR3 NDUFS2 SDHA TOE1 OPA1 ZFR B3GALT6 FLRT3 NDUFAF2 DUSP6 SPRY4 NDUFAF5 CAPN1 LAMB1 NDNF PROK2 USP8 INTS8 NDUFS4 KISS1R NDUFA2 HP_PARAPLEGIA_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA_PARAPARESIS RNASEH2B NT5C2 SPG11 NDUFA4 DNM1L PDHX ANOS1 MARS1 SLC2A1 SQSTM1 WDR48 ALS2 NDUFA13 CCDC88C VPS37A RNF113A AP4M1 SLC25A15 KIDINS220 MAG MTPAP KIF5A BCOR FGF17 TRMT10A AP5Z1 NIPA1 KY SAMHD1 BTD PROKR2 RTN2 FUS ATP13A2 VCP NDUFA10 SLC33A1 SOX10 IL17RD SELENOI FEZF1 KIF1A SPG7 CPT1C GTF2E2 SP110 GBA PET100 GBA2 SPART FLRT1 B4GALNT1 CCT5 AP4B1 AP4E1 AFG3L2 ALDH18A1 PNPLA6 MICOS13 NDUFA12 WDR45B SETX HPDL MTHFR ARSI GAN OPA3 PDHA1 ASAH1 KDM5C MAN2B1 ADAR UBAP1 ATL1 DDHD2 TFG ZFYVE27 ARG1 GALC SPG21 TBK1 DSTYK RAB3GAP2 CHCHD10 HESX1 PPP1R15B ENTPD1 SDHAF1 NAGS CYP2U1 MT-ATP6 SDHA GOT2 FARS2 FGF8 IDUA VAMP1 MPLKIP C19orf12 COASY PEX3 C12orf65 PGAP1 TBCE NDUFS8 L1CAM CKAP2L NDUFS1 FA2H LIPT1 RNASEH2C REEP2 GBE1 HS6ST1 DDHD1 NDUFA9 CCDC141 NDUFV1 ATP6AP2 IFIH1 GJC2 SURF1 DCC ERCC3 PAX3 ARL6IP1 RASA1 CYP7B1 SDHD IBA57 CHD7 SEMA3A ECHS1 FOXRED1 GPT2 REEP1 SLC30A10 C9orf72 PRPS1 GJB1 STXBP1 GJA1 ZFYVE26 TECPR2 SAMD9 NDUFS3 ATRX AMPD2 PLP1 MTFMT TREX1 NDUFAF6 PNP BSCL2 ABCD1 AP4S1 WDR11 TTR PAH TACO1 NF1 TTC19 SPAST SLC16A2 WASHC5 ERCC2 AIFM1 ERLIN2 TARS1 POLG HSPD1 COX15 NSMF TARDBP GTF2H5 NDUFV2 LYST KLC2 NDUFS7 UCHL1 MED13L RNASEH2A HACE1 SLC19A3 CACNA1D FGFR1 TNFRSF11A ADGRG1 TACR3 NDUFS2 TOE1 OPA1 ZFR WDR45 B3GALT6 FLRT3 NDUFAF2 DUSP6 AIMP1 SPRY4 NDUFAF5 EDNRB SRPX2 CAPN1 PEX16 LAMB1 NDNF PROK2 PI4KA USP8 SDHB INTS8 NDUFS4 CLTC KISS1R NDUFA2 HP_OCULOGYRIC_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOGYRIC_CRISIS SLC18A2 GRIN2B CAMK2B KDM5B PPP3CA KCNQ5 GRIN1 CIC DYNC1H1 DEAF1 CAMK2A TRPM3 TAOK1 KIRREL3 EPB41L1 SLC6A3 SPR MYT1L DNAJC12 CDH15 CSNK2B CUX1 BRSK2 CLTC CHAMP1 ATP13A2 CACNG2 EEF1A2 TH KIF1A ASH1L DOCK8 PTS SYNGAP1 TCF4 MBD5 PCBD1 SET HIVEP2 ZMYND11 RAB11A MED12L DNM1L STXBP1 HP_CUTANEOUS_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_FINGER_SYNDACTYLY TP63 FGFR2 IRF6 ROR2 HOXD13 NOG GLI3 CHSY1 MEGF8 PAX3 LEMD3 KCTD1 LMBR1 DCHS1 KAT6A WDR19 CCBE1 NECTIN4 SMO PIEZO2 LRP4 NECTIN1 FAT4 ORC1 FRAS1 HP_OVERLAPPING_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_FINGERS MECOM TNNI2 SAMD9 TPM2 CHST11 PTF1A FLNA TNNT3 PI4KA MOGS SETBP1 KIAA1109 ATN1 NEK9 EVC PRKDC EBP COG7 DOK7 EVC2 NALCN MYH3 TMEM94 BICD2 CTU2 MYBPC1 MYOD1 MADD CNTN1 MED25 HP_KELOIDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KELOIDS EP300 MAP3K7 APC CREBBP FLNA COL7A1 ATP7A HP_BIFID_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_EPIGLOTTIS WDR35 DYNC2H1 GLI3 FOXE1 DYNC2I1 IFT80 DYNC2I2 HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS C2CD3 NEK1 GLI3 EIF4A3 SETBP1 SF3B4 PRRX1 HP_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA SDHD BMPR1A STK11 APC GLI3 ADAMTS3 PTEN MVK BRAF RET SIX6 CDKN1B CDC73 GCDH TMEM216 TSC2 PIK3CA VHL SMAD4 NF1 SEC23B KANSL1 KRT1 ACTB KIF7 AKT1 GREM1 TMEM127 DIS3L2 IFNG NRAS SDHAF2 FAM149B1 FH TSC1 USF3 CPLANE1 KLLN HRAS TFAP2A PDE6D SDHB SMO PTCH1 CDK4 SDHC OFD1 NF2 TCTN3 IDH1 CCND1 PCGF2 MAX KIAA0753 NEK9 MDH2 MSH6 FAT4 SUFU SOX2 DYNC2LI1 FGF3 DLST KRT10 SDHA CCBE1 SLC25A11 ACVR1 COL18A1 FGFR3 MSH3 PTCH2 IDH2 KIF1B PTH1R HP_HAMARTOMA_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_THE_EYE KRT10 SDHD SDHB CCND1 TMEM127 SDHA NF1 IFNG MAX VHL SLC25A11 SDHAF2 FH MDH2 TSC1 TSC2 USF3 MSH6 RET PTEN KLLN AKT1 SDHC SEC23B NF2 PIK3CA DLST KIF1B KRT1 HP_DYSPLASIA_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD HSPA9 IHH MTX2 B3GALT6 COL2A1 HP_ABSENT_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EPIPHYSES RNU4ATAC SMARCAL1 PLOD3 KIF22 TRAPPC2 COL2A1 PIK3C2A COL11A2 EXTL3 LONP1 CDC6 MATN3 IFT140 COMP ADAMTSL2 CHST3 HP_CONE_SHAPED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_SHAPED_EPIPHYSIS FLNA NPHP1 EVC PCNT DYNC2I2 RSPRY1 TRPS1 DYNC2H1 MAP3K7 COMP TRAF3IP1 IFT172 EIF2AK3 SHOX ATRIP CEP152 IFT140 FGFR3 GDF5 KIF15 COG4 PDE4D ATR OFD1 DYM RBBP8 RUNX2 BGN DYNC2LI1 CENPJ GPX4 KIAA0586 DYNC2I1 CEP120 IFT80 IQCB1 IHH TTC21B PRKAR1A EVC2 PDE3A EXT1 SRCAP PIK3CD FBN1 INVS TRIP11 RMRP SMAD4 ZMIZ1 CEP164 MIR140 NSMCE2 NOG NPHP4 WDR19 CSPP1 COL2A1 CEP290 BMPR1B FGF9 PLK4 NEK1 SDCCAG8 AIFM1 IFT52 MRPS28 NPHP3 CENPE KNSTRN TRAIP NPR2 POC1A HP_ENLARGED_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_EPIPHYSES VDR CYP2R1 COL11A2 CLCN5 CCN6 COL2A1 GDF5 ATRX CYP27B1 SLC34A3 PIK3R1 NKX3-2 COL10A1 CKAP2L HP_IRREGULAR_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_EPIPHYSES SLC26A2 KIF22 COMP COL11A1 COL2A1 DYM MATN3 TRIP11 RNU4ATAC ADAMTSL2 COL9A1 CHST3 RPL13 TRAPPC2 ACAN CDC6 NANS UFSP2 COL9A3 COL9A2 SIK3 HP_IVORY_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IVORY_EPIPHYSES ATR TRPS1 ERCC6 EIF2AK3 PCNT ERCC8 HP_PSEUDOEPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES CPLX1 FGFRL1 BMPR1B RPS6KA3 LETM1 GDF5 HOXA13 PCNT SALL1 NSD2 KCNH1 CTBP1 NKX3-2 MAP3K7 RAB23 HP_SMALL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EPIPHYSES KIF22 COMP COL11A1 MMP13 EIF2AK3 RSPRY1 MATN3 TRIP11 CANT1 MEG3 COL9A1 COL2A1 CHST3 SLC10A7 RNU4ATAC AIFM1 RTL1 RMRP NANS DLK1 COL9A3 COL9A2 HP_SKIN_TAGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_TAGS LRP5 SIX5 UBE3B PUF60 TMEM260 BCOR SNRPN PLCB4 GPC3 CTNND2 MED13L EYA1 MAFB GPC4 SIX1 POLR1C ALX1 PRMT7 WASHC5 SF3B4 CTBP1 ODC1 CHD7 PTEN MED12 KDM6A DACT1 FGFRL1 TXNL4A TCOF1 SUFU LETM1 EXT2 CCDC22 NSMCE2 ARID1B CHN1 FLNB KMT2D ALX3 RIPK4 ANKRD11 PIK3CA FGFR1 AKT1 CPLX1 FLCN FGFR2 EDNRA EFTUD2 GNAI3 TASP1 MSL3 SALL1 PIGS FGF3 NSD2 ANTXR1 SVBP VPS13B EDN1 NAA10 POLR1D HNRNPU IRX5 B3GLCT PTCH1 SEMA3E STAG2 PTCH2 SALL4 KIF7 SEMA5A HP_PALMAR_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_PITS PTCH1 PTCH2 SUFU CIB1 ATP2A2 HP_ANGIOFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOFIBROMAS TSC1 SDHB CDKN1B IFNG MLH1 CDKN1A MSH6 CDKN2B MEN1 USF3 MSH2 KRAS PTEN KLLN CDKN2C SDHD NRAS TSC2 KRT17 AKT1 SDHC SEC23B PLCD1 HRAS PIK3CA HP_FIBROADENOMA_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROADENOMA_OF_THE_BREAST AKT1 FAS APC PRKCD PTEN RASGRP1 PRKAR1A CASP10 PRLR FASLG HP_MALAR_PROMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_PROMINENCE CTDP1 XRCC4 NSMCE2 HBB HDAC8 NBN LAS1L HP_CUTANEOUS_SYNDACTYLY_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY_OF_TOES MYH8 NECTIN4 EP300 FGF9 SMO SMARCAD1 DYRK1A NECTIN1 GJA1 SVBP MCTP2 CREBBP NOG SLC39A8 BCOR HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM RNASEH2B EXT2 CHRNG RECQL4 GNAS APC GLI3 FGFR3 ATP7A POLR1C PRKAR1A COL2A1 CDKN2A TGFBR2 PMS2 KRAS SHOX TSR2 ACAN SAMHD1 RPS17 FGFR1 RPL11 RPS19 EXT1 ALX4 B3GALT6 PTPN11 COL11A2 IFNG FAN1 SOX6 TREX1 ADA2 RPL35A RB1 PTEN RPS10 RPL35 RPL15 RPS7 MSH6 RAD21 TP53 WRN RPL31 MLH1 AKT1 EPCAM SQSTM1 MSX2 TSC1 MLH3 ADAR IDH1 LMX1B PIK3CA RNASEH2A RPS24 PMS1 GATA1 RPL26 ACP5 RPS26 RPS28 CHEK2 NR4A3 RPS29 RPL18 IDH2 TCOF1 EXOC6B ANAPC1 LMNA RPS20 MTAP TRPS1 RPL5 POLR1D PHF21A RNASEH2C PORCN MDM2 RPS27 TSC2 SEMA4A RPS15A BMPR1A MSH2 TAF15 IFIH1 PTH1R RPL27 HP_APLASTIC_HYPOPLASTIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_TOENAIL KDM1A CLIP2 WNT7A DLL4 SOX4 HOXA13 DPF2 TERC GPC4 SHANK3 ARID2 SHOX APC NECTIN4 HRAS RTEL1 EOGT GDF5 EED SUZ12 NOTCH1 PORCN LIG4 TERT USB1 NOG SOX11 CRKL TBC1D24 RBPJ GTF2IRD1 ARID1A GTF2I EVC MSX1 SMARCD1 MAPK1 RIPK4 RFC2 PARN DYNC2LI1 COL7A1 PPP1CB GLI1 KCNH1 TCTN3 BCR INPPL1 TELO2 TINF2 TBL2 NSUN2 LMX1B PPP2R5D NPM1 DPH1 COL11A1 ODC1 SMARCE1 ARHGAP31 LRP4 DOCK6 ARID1B SMARCA4 ATP6V1B2 TBX4 CPT2 AFF4 SHOC2 EZH2 GJB6 BAZ1B LIMK1 ELN NSD1 NOP10 EVC2 KCNN3 CKAP2L SMARCC2 SLC35D1 CTC1 LBR WRAP53 GJB2 TBX3 NHP2 SMARCB1 FGFR1 DKC1 HP_ANTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_DYSGENESIS HESX1 ZSWIM6 LHX3 LHX4 MAGEL2 NDN TBX3 FOXA2 SNRPN GLI2 OTX2 PROP1 SOX3 FGFR1 VANGL2 DMXL2 SIX3 GHRHR OCA2 SIX6 GATA6 PROKR2 SOX2 RBM28 ARNT2 MTHFR MADD POU1F1 NONO HP_ANTERIOR_PITUITARY_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_AGENESIS GLI2 HESX1 SIX3 POU1F1 LHX4 FOXA2 PROP1 GATA6 OTX2 HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET MATN3 COL9A2 COL9A1 EIF2AK3 COL9A3 HP_SCHIZENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZENCEPHALY SHH SIX3 COL4A1 WDR62 EPG5 WNT1 TUBB2B EMX2 HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN SLC34A1 CYP2R1 SLC34A3 CYP27B1 DMP1 ENPP1 ABCC6 VCP CCDC115 CTNS HP_ABNORMALITY_OF_THE_NASAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_CAVITY TGIF1 PTCH1 SIX3 GLMN ZIC2 SHH DISP1 NODAL FGFR1 GLI2 FOXH1 CDON TDGF1 DLL1 GAS1 SUFU FGF8 HP_CERVICAL_SPINE_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SPINE_INSTABILITY SMAD3 POP1 BGN COL2A1 COMP TGFB3 B3GALT6 HP_ABNORMAL_ELASTICITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELASTICITY_OF_SKIN ABL1 CLIP2 IFT43 RPS6KA3 COL5A2 ATP7A GORAB SULT2B1 PTDSS1 AEBP1 SPINT2 ZNF469 GGCX TINF2 ATP6V0A2 FGD1 CD96 TWIST2 NAA10 SKI CHST14 PYCR1 FBN1 ELN TGM1 PARN SUZ12 MLXIPL COL1A2 COL1A1 MRPS22 TGFBR1 SMARCAD1 B3GALT6 C1S C1R KIF22 NDUFB11 FOXC1 ALOX12B TNXB ADAMTS2 B4GALT7 MEGF8 MEG3 GBA TERT GTF2IRD1 DLK1 GTF2I SPARC GSN FBLN5 KIAA0586 RFC2 WDR37 SMAD3 PEX1 TUBB TGFBR2 ALDH18A1 EZH2 CYP4F22 XYLT1 MAN2B1 PHGDH BCL11B FGF10 TBL2 USP8 TGM5 TRIP4 OSMR MAN1B1 DSE CEP55 NIPAL4 SON GPX4 ATP6V1B2 COL3A1 AKT3 XYLT2 SLC2A10 HRAS VAC14 LIMK1 FGFR2 EXOC6B NEPRO CHST3 SMARCA2 ENPP1 TRPS1 ADAMTSL2 RIN2 FGFR3 PDGFRB COL5A1 FLNA INSR YY1 EFEMP2 MAP2K2 WRN SLC7A7 ALOXE3 SLC6A8 TBX15 PITX2 PDE8B PTEN NBAS SRD5A3 KRAS PRDM5 AIP PRKAR1A MGP EED CUL4B PIK3R1 BRAF PDE11A POLD1 MRPS16 PIGQ IARS1 RTL1 EDA FKBP14 LIPN FIG4 B3GAT3 HPGD ATP6AP2 PRKACA KCNN3 PAH RTEL1 RIT1 KCNH1 SLC26A2 ABCC6 MAP2K1 ZMPSTE24 SLC25A24 ANTXR1 ACD EHMT1 PTPN11 EXT1 LTBP4 ATP6V1A COL12A1 CSTA KMT2C PLOD1 CSPP1 BAZ1B DLG4 NSD1 SLC39A13 PUF60 LMNA MTAP TGFB2 PAX2 WDR19 RAF1 ATP6V1E1 WDR35 GNAS ABCA12 MAPRE2 FGF20 NPR2 TP53 NDUFB10 PSAT1 SDR9C7 TBL1XR1 DKC1 HP_DERMAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_TRANSLUCENCY ZMPSTE24 TGFBR1 IARS1 SMAD3 COL3A1 POLR3A COL1A2 CHD1 COL1A1 PPP1CB SLC25A24 LMNA TGFBR2 PYCR1 B3GALT6 HP_FLAT_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_NASAL_ALAE ERCC5 ERCC2 ERCC4 XPC DDB2 XPA ERCC3 PTCH1 HP_ABNORMAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MENINGEAL_MORPHOLOGY WNT7A POMT2 TDGF1 NODAL HES7 CDON MAT2A TBX1 FUZ DACT1 TGFBR2 DLL1 RASA1 SHANK3 PRKG1 SIN3A DISP1 FGFR1 TGIF1 FOXH1 PTCH1 SIX3 PAX3 POMT1 COMT UFD1 FLNA GAS1 VANGL1 TBXT ACTA2 MESP2 ABCC6 NF1 KANSL1 PORCN LARGE1 SHH SMAD4 NRAS CCL2 COL11A1 SEC24C ARID2 GLI3 NOTCH3 KRAS FBN1 SMAD3 NDE1 SC5D WAC RREB1 SON TTR FOXE3 FKTN KIAA0586 ELN MYH11 FGF8 RIPPLY2 TGFB3 HIRA SMC1A ADAT3 MYLK FRAS1 MSX2 DLL3 ZIC2 DDR2 FGFR2 SNRPB ZSWIM6 PKD1 PPP2R5D GLI2 FKRP STAG2 KCNQ1OT1 BMPER GP1BB H19 ARVCF IGF2 INPP5E XPNPEP3 CEP290 SUFU SCN2A FOXC2 BICC1 PUS3 SACS ALX4 POMGNT1 CSPP1 MFAP5 TGFBR1 LOX GANAB DNAJC19 PUF60 TMEM216 FREM2 GMPPB TGFB2 VANGL2 GPSM2 RTTN NARS1 NEK1 TMEM231 GRIP1 LFNG PKD2 JMJD1C PTCH2 OFD1 B3GALNT2 HP_ABNORMAL_DURA_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DURA_MATER_MORPHOLOGY SHH TDGF1 NODAL GLI2 CDON STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 SIX3 SUFU GAS1 ABCC6 COL11A1 FGFR1 ZIC2 NDE1 PTCH2 SMC1A DDR2 HP_EPIPHYSEAL_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_STIPPLING PEX11B PDE4D PEX2 PEX10 PEX6 EBP PEX5 PEX26 PEX12 PEX7 ARSL DHCR7 GDF5 NSDHL SNRPB PEX16 THRB PEX13 MEG3 MGP PRKAR1A BMPR1B PEX1 LBR PEX3 RTL1 AGPS PEX19 GGCX VPS35L DLK1 FLNB PEX14 NEU1 DDR2 GUSB HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION COMP PEX11B PDE4D COL2A1 PEX6 PEX5 CYP19A1 PEX26 PEX12 DDRGK1 ARSL SNRPB PEX16 PEX13 MIR140 MGP RNU4ATAC GPX4 PEX19 GGCX CYP27B1 PEX1 VPS35L FLNB COL9A3 NEU1 CSPP1 GUSB VDR CYP2R1 DYM KIF22 PEX2 B3GALT6 PEX10 CLCN5 EBP PTH1R PEX7 DHCR7 GDF5 NSDHL THRB MEG3 MATN3 KIAA0586 PRKAR1A BMPR1B LBR PEX3 RTL1 AGPS SLC34A3 PISD DLK1 KCNH1 PEX14 DDR2 ESR1 HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY TBCE GJA1 MTAP LBR SQSTM1 HP_ABNORMAL_HAND_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_BONE_OSSIFICATION SETD2 B3GALT6 FLNA ENPP1 CANT1 EBP GPC3 SLC35D1 BGN HOXA13 XYLT1 GPC4 PTH1R TONSL TRIP11 MBTPS1 GDF5 ABCC6 MATN3 PIGV CHST3 SLC10A7 BMPR1B SUFU EXTL3 RMRP LONP1 KIF22 COL2A1 PTCH1 UFSP2 FLNB IHH PTCH2 TRPV4 DDR2 HP_ABNORMALITY_OF_THE_DIENCEPHALON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIENCEPHALON PTCD3 CLIP2 TDGF1 NODAL TRAF7 ANOS1 NDNF TERT FKRP SURF1 GLI3 CDON DCC TWNK SMARCE1 FTL DLL1 DISP1 CHD7 SIX6 TGIF1 NDP SEMA3A POMGNT1 FOXH1 PTCH1 FGF17 SIX3 TMEM216 GPKOW PROKR2 TRH GAS1 JAM2 SHH IL17RD FEZF1 GMPPB NDUFAF3 MAGEL2 KIF7 CTNNB1 FAM149B1 GTF2IRD1 GTF2I NDE1 WDR11 CPLANE1 RFC2 FGF8 SETD5 SUFU PDE6D SMO BAP1 SCP2 OFD1 SMC1A SMARCB1 MFF GSX2 ZIC2 NSMF SLC2A1 TBL2 GLI2 STAG2 KIAA0753 NF2 LHX3 PDGFB SOX10 HESX1 NDUFB8 LEPR SIM1 SOX2 POMK GTPBP3 FGFR1 RANBP2 CDH2 TACR3 BAZ1B LIMK1 ELN FLRT3 PIK3C2A CCDC141 DUSP6 AKT1 COASY SPRY4 EXOC7 C12orf65 BRAF NDUFS2 PROK2 POLG POMT2 TCTN3 HS6ST1 POMT1 PIK3CA TUBB3 TREM2 KISS1R CP COX10 SCO2 HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY NDUFAF3 PTCD3 SLC2A1 PIK3C2A TRAF7 TERT FKRP AKT1 SURF1 COASY PTCH1 EXOC7 NF2 TWNK C12orf65 SMARCE1 FTL NDE1 NDUFS2 PDGFB POMGNT1 NDUFB8 POLG BAP1 SETD5 SUFU POMT2 POMK POMT1 PIK3CA GTPBP3 RANBP2 TUBB3 SCP2 TREM2 SMARCB1 JAM2 CP COX10 MFF SCO2 GMPPB GSX2 SMO HP_BILATERAL_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_COXA_VALGA MAN2B1 CCDC47 PDE4D STXBP1 COL9A2 COL9A1 COG8 COL9A3 LMX1B TGFB3 HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE TP63 TMEM165 CLIP2 FLNA FGFR3 YY1 COL2A1 GORAB WNT5A TONSL TBX1 ATRX SF3B4 FLNB SHANK3 ACSL4 PIGV SH2B1 FZD2 ERF APC MGP COL11A1 LOXL3 UFD1 PYCR1 AMMECR1 ZNHIT3 COG4 MLXIPL TGFBR1 FGFR2 CDH11 MECP2 MAN1B1 KIF22 RAB3GAP2 PYCR2 FAM20C SEC24C NOTCH3 GTF2IRD1 HSPG2 PAX3 GTF2I POGZ VPS13B ARID1B RREB1 HBA2 SLC26A2 SEC23A PDE4D POR ESCO2 RFC2 SMAD3 RPS26 HIRA SEMA3E RAI1 GSC NECTIN1 RAB3GAP1 PEX1 TGFBR2 KCNH1 DDR2 BCR INPPL1 KIF1A TBL2 DHODH LIFR RSPRY1 COL9A1 LRP2 MYH3 GP1BB SMAD4 CHD7 LRP4 POLE LMNA CNOT3 ACAN COL1A1 KCNE5 ADAMTSL4 CNOT1 CCDC8 CTSK FBN1 GPC6 TGDS FAT4 SLC2A10 HDAC8 SETBP1 SATB2 OBSL1 LIMK1 EHMT1 RNU4ATAC PTH1R GRIA3 GATA1 NSMCE2 SHH ROR2 PLOD3 COL11A2 POLR1B EFTUD2 RDH11 NFIX LBR AGL FAM50A JMJD1C DNMT3B BLM TBX22 MED12 MBD5 MAP2K2 STAG2 LARP7 CTDP1 POLR1C NBN SLC6A8 SCARF2 MAF KIF7 SOST PIGT NDP PIGA KRAS HDAC4 COMT RLIM FOXC1 NSDHL POLR3A USB1 UBE2A EBP PIK3R1 BRAF OFD1 CILK1 HBB PQBP1 CRKL BUB1B RUNX2 BGN LAS1L PEPD PEX7 POU1F1 HERC1 TWIST2 CCBE1 RAB23 MAPK1 MAP2K1 TWIST1 HBA1 TFAP2A ZBTB20 GLI2 TFAP2B COL9A3 TAT BANF1 NONO SETD2 XRCC4 LTBP4 ATP6V1A PCGF2 CANT1 MAN2B1 NF1 TMEM237 SNRPB FGFR1 BMP2 ARVCF RHOA KCNJ2 TCOF1 SERPINH1 DVL1 ELN SLC16A2 NOTCH2 BMP4 PRKAR1A TBX4 BAZ1B B3GALT6 SLC35D1 NTRK1 PRMT7 SIX3 CUL7 DCHS1 FOXP1 POLR1D ATP6V1E1 ATP6V0A2 AIFM1 TBL1XR1 PIGU LRPPRC SP7 COL9A2 PEX12 NGF RBM8A POMGNT1 HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE BAZ1B CLIP2 LIMK1 RUNX2 NECTIN1 ELN TBL2 GTF2IRD1 PEPD POLR1C GTF2I CHD7 VPS13B TWIST2 POLR1D FGFR2 KRAS RFC2 MAP2K1 SF3B4 CNOT1 SEMA3E COL11A1 SLC16A2 BRAF OFD1 NOTCH2 MAP2K2 TCOF1 HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN CLIP2 NODAL NFIX UNC80 FKRP VCP CDH11 SOX4 HES7 SYNE1 SF3B4 KIF5A BRCA1 ZIC1 SPATA5 SCN4A B9D1 GLB1 FMR1 PHACTR1 KANSL1 TGFBR1 TRPS1 MAGEL2 AKT1 B3GALT6 SNRPN GBA2 DYM NSD2 CBS NSDHL SMAD3 B4GALNT1 TRPV4 KATNIP TNNI2 ACTL6A MECP2 FUCA1 GARS1 STAT3 MSTO1 BRF1 GPC3 DEAF1 PRX ACTB GFM2 XRCC2 SOS1 GP1BB BRSK2 DSTYK NELFA COL6A3 PYCR2 BRAF IDH2 TTI2 POMT1 GUSB ERCC8 PTCH1 DLL1 RNF13 MYH3 WNT1 P3H1 GRIA3 MBTPS2 CCDC8 PTPN11 CHRNE TANC2 TGFB2 ATAD3A LAGE3 DHCR7 NEB NPAP1 HPDL RAD51 DVL3 DKC1 SNORD116-1 MARS2 SEMA5A RBBP8 STXBP1 TBC1D20 VAMP1 GRIN1 PIEZO2 CENPT AIP SELENON HSPG2 RBM8A SIN3A MPZ KMT2E FANCD2 MKRN3 TONSL CLCN4 TUBGCP6 MYH7 ALX3 POLD1 MCM3AP CRKL RUNX2 EIF2AK3 FLCN RTL1 TDGF1 COL1A1 PIGS HK1 UBE3A RPL10 BICD2 RAB23 ZBTB20 EXT2 DCX LTBP4 NONO GTF2H5 RBM10 NSUN2 MYL2 ACTA1 KIRREL3 TRIP11 HACE1 OCA2 MBTPS1 CEP120 PHF8 H19 NSD1 TAF1 KCNJ2 EEF1A2 LAMB2 FLNB KMT2D SHOX DDX3X ATP6V1E1 PSMD12 SET ARID1A B4GALT7 GLI2 PRKAR1A ZEB2 SDHB NECTIN1 LIFR FLNA RIT1 FGFR1 MYPN NOP10 DDRGK1 OCRL HNRNPK DCHS1 TBCK ZC4H2 C1S MAD2L2 CCN6 WDFY3 HLA-B PPP1R12A ASXL2 NKX6-2 FGFR3 RERE TMCO1 COLEC10 HPGD DOK7 PEX5 PGAP3 VPS37A COL2A1 SMCHD1 ZNF469 RRAS2 CD96 PAX3 UFD1 PYCR1 XYLT1 POMK SUZ12 TPM3 TRMT1 SEC23B MBD5 ANKRD11 MED13 GTF2IRD1 RIPPLY2 ALG2 BMP1 PDE4D SEC24D PALB2 ELN TMTC3 RBM28 TGFB1 JPH1 FRG1 SLC25A46 AHDC1 FBN2 NALCN SEMA3E EZH2 NIN DYRK1A ERCC2 BCR ADAR ABCB7 ATR PMM2 PIK3CD COL6A2 VDR WNK1 TK2 FHL1 PPIB GCH1 LHX3 ZMIZ1 FAM126A LRP4 SDHD SSR4 KCNA1 EXOC6B CEP41 SETD2 TRIO NEPRO EPB41L1 CHST3 ACVR1 GZF1 PDGFRB TPM2 INPP5K MAP1B TRAIP RYR1 JMJD1C GOSR2 CBL NPR2 PTCH2 TLK2 CRTAP HSPB8 TOR1A ITGA7 CPLANE1 MFN2 COL12A1 ZIC2 NRXN1 CNOT2 SPART SLC25A1 CRLF1 XYLT2 UBA1 GDAP1 NDP FOXH1 MAP3K20 KRAS SIX3 IARS2 EXTL3 PLEKHG5 TBCD COL11A2 HGD COLQ SPG11 SHH IGHMBP2 USB1 PLAA NDN LARP7 ACTG1 HERC1 CACNA1G SON CANT1 ARL6IP6 SGCG CCBE1 FOXE3 KBTBD13 CDON ABCC6 HACD1 PIGY VMA21 NEU1 TGFB3 LONP1 TFAP2A RAI1 DLX5 IHH MAP2K1 TINF2 PCGF2 GNPAT ERMARD NPHP1 RLIM ARX RNASEH2A CHD7 SLC6A1 MESD FGF8 FLI1 COX8A APTX COL6A1 STAC3 PIGO MTMR2 SLC18A3 BMPR1B FANCL CAPN1 GDF5 EBP ALDH3A2 HNRNPU TGIF1 GNE PIGU FKBP14 TNNT3 RIN2 CSNK2A1 P4HB PSAT1 FARS2 ATP7A TBL1XR1 ABL1 MEOX1 SALL4 PIGW ERLIN1 AP1S2 TMEM231 TTPA IGBP1 TRMT10A CHST14 GDF6 HNRNPH2 MLXIPL NTNG1 PLOD2 CPLX1 SPG7 TBC1D24 TAOK1 GBA ALDH18A1 CLCF1 SPARC SETBP1 PTEN USF3 MYT1L COL1A2 BCOR AGRN ASH1L LSS NACC1 CHRNA1 CRPPA TELO2 TMEM67 AUTS2 CC2D2A SNX14 MYF5 TRAPPC11 PPP1R15B TBX1 CREBBP UPF3B HINT1 PMP22 PWAR1 CASK SHMT2 SLC26A2 SLC39A14 SIGMAR1 CCDC47 ENPP1 TBCE RNASEH1 ERCC1 NARS1 SMARCAL1 CTC1 LOX RNASEH2C SOX9 COL5A1 ALMS1 KIF1A DDHD1 DOCK8 FKBP10 CEP104 CHRNB1 IFIH1 TTN SMARCA4 GJC2 RPGRIP1L POMT2 CHRNG DNMT3B MAT2A TBX6 ASAH1 GNPTAB DPF2 LMNB2 TBX5 FGFR2 FXN GMPPB CLTC PRDM5 COL13A1 TMEM94 NDUFAF1 LETM1 SMC1A RMRP POLR3A CDC45 GPC4 PRPS1 HIVEP2 LARGE1 PPP3CA MTMR14 TRIP4 PEX7 PIEZO1 PLEC PIK3R2 IRF6 ERCC4 HNRNPA1 NOTCH2NLC SRY GDF3 YIF1B GRIN2B KCNQ5 CAMK2A FGD1 CDC42 MEG3 GABBR2 TCTN3 DPM2 SLC25A21 GORAB DCC PIK3C2A PUF60 FAM111B H1-4 UBE2T C1R ERCC6 SLC10A7 INPPL1 GJB1 PACS1 RAB18 TMEM165 DPAGT1 CTNND2 AEBP1 TMEM43 ATP6V0A2 KDM6A COMP RASA2 SH2B1 KCNJ6 COL5A2 ATRIP TUBB4A FLII ARID1B DKK1 ELP1 VPS33A INPP5E EXT1 MATN3 TERT FANCB RAB3GAP2 NOTCH3 SRD5A3 MEGF10 FLRT1 RREB1 SEC23A DISP1 RPL13 CCDC22 CACNG2 SGMS2 SETD5 HIRA DDR2 RPS6KA3 PHGDH GFPT1 NUP107 SLCO2A1 FANCI ATL1 DSE ATN1 RAF1 PAX6 MED12 NDUFAF6 FOXG1 BDNF ARL13B COG1 USP9X TRAPPC12 TGDS SLC2A10 GLE1 SUFU LMOD3 SLC5A7 NUP88 EMD DVL1 COL10A1 POLA1 GAD1 MMP13 MYOD1 SYNE2 CDK19 MGME1 IQSEC2 TBX2 AIMP2 PLOD3 MASP1 DLK1 MAP2K2 AK9 CTDP1 RAC1 ERCC3 DNAJC6 SIL1 KRIT1 PIGT NXN PYROXD1 PCNT ANO5 NF1 BRIP1 EMC1 GALNS ALS2 SAMD9 MVK FBXL4 ALG14 DEGS1 KIAA0586 KY BANF1 SLC52A2 RAB3GAP1 HUWE1 CTBP1 ATRX BRCA2 PWRN1 TRAPPC2 LRP5 LMNA TUBGCP4 UFSP2 MPL PLOD1 BCORL1 EFNB1 IKBKG LMX1B DLG4 HNRNPA2B1 EGR2 HGSNAT SYT1 POP1 RETREG1 LZTR1 RFWD3 CUX1 CCM2 CHAMP1 DYSF DMD PORCN RRM2B YARS2 ARSB MESP2 GAS1 COQ2 KMT2C ARMC9 ADGRG6 CHD3 AGA CHRND TNFRSF11B SETX KCNH1 MAP3K7 PRKG1 GNAQ CEP152 RTEL1 ACP5 IDS LIG4 KIF22 SBF1 CENPJ SLC35A3 FANCM GNPTG FN1 NEFL SYT2 EP300 SPEG SURF1 BPTF ROR2 TBL2 FBN1 ALG9 RUSC2 ACAN TMEM237 HERC2 POMGNT1 OBSL1 LIMK1 SGCA CHAT SMARCA2 ALG11 AIFM1 AHI1 PLK4 DHX37 SMS PAX7 CENPE PCYT1A RAB11A MED12L MYBPC1 MUSK KDM5B TTC21B RECQL4 PUS1 NCAPG2 PGAP2 COMT DYNC2H1 HMGA2 FUT8 SNORD115-1 MADD ACADS MED25 TCTN1 NAA10 GLIS3 SHROOM4 TRPM3 TMEM216 L1CAM FBLN5 WIPI2 LAMA2 SMARCD1 PQBP1 CYP7B1 YWHAG SLC16A2 FLVCR1 ATP6V1B2 BIN1 DNM1L DLL3 KLC2 RPL11 NUS1 KCNQ1OT1 KDELR2 SLC25A24 CLIC2 FA2H NDUFAF4 CAPN3 FANCC HSD17B4 WDR81 RRAS PIBF1 PPP2R1A IDH1 CIC STAG1 SLC39A13 AIMP1 SPRTN TMEM38B ITGB6 CUL7 SMARCC2 SCARB2 SYNJ1 KNSTRN MEIS2 ATP6AP2 RNF113A PTDSS1 PODXL TGFBR2 CAVIN1 APC VPS53 ROBO3 FLAD1 MAPK1 SLX4 AMER1 ACTL6B PAFAH1B1 FARSA LEMD3 PIK3CA FUS HMGB3 PGM3 GNAS SORD NEK9 CSNK2B ATAD1 TRRAP KLLN RFC2 WDR45B HRAS RBCK1 DAG1 USP8 DDX6 WASHC5 TMEM138 SMARCE1 TCTN2 LBR PET100 IDUA FANCE CFL2 TRAPPC4 KCNN3 MAF STAG2 SYNGAP1 INTS1 MAPT RSPRY1 BAG3 TWIST1 DDX59 CUL4B NRAS PIGQ SCN9A P4HTM SOX11 MYMK ARID2 SVBP TREX1 GAN MOGS PRDM16 SOX5 RAPSN CSF1R SDHC TPI1 ERLIN2 NEDD4L TARS1 CTSK FANCF SATB2 PPP2R5D NDUFS3 ZNF423 ARVCF IGF2 SERPINH1 HSPD1 PPP2R3C BAZ1B COQ4 MKS1 MYO9A ZMPSTE24 PRKD1 NGLY1 KLHL41 LFNG FKTN MYO18B RNASEH2B RAC3 HTT ARFGEF2 WNT5A FARSB SAMHD1 SKI ACTN2 ZMYND11 PDCD10 NDUFA12 FBXW11 SEC24C UPB1 GTPBP2 GTF2I SACS PRUNE1 SLC1A2 MYLK SOS2 B3GLCT MIR140 OTUD6B DOCK3 PHF6 SNAP25 SFRP4 MFAP5 RET CNTNAP2 MPLKIP MORC2 TCF20 C12orf65 CDH15 NOTCH2 DNA2 MRAS FZD2 SH3TC2 UBTF NEMF FUZ MEGF8 ADAMTS2 SBF2 USP7 PAPSS2 CSPP1 TERC DNMT3A ASXL3 COG8 MTRR EED DYNC1H1 FGD4 IL6ST CHST11 B3GAT3 KCNAB2 POLE ANTXR1 AHSG NPM1 PNKP MAN2B1 CDKL5 SLC35A2 COLEC11 ZDHHC9 SLC12A6 GABRD DUX4 SP7 PDE11A PISD SMARCB1 CSGALNACT1 TCF4 MGAT2 SH3PXD2B ACTA2 MAPK8IP3 SMAD4 MRPS34 FOXRED1 GTF2E2 ARF1 SLC52A3 VPS13B POR MYH11 DES NKAP CAMK2B SNRPB SPTBN4 A2ML1 GPR101 SIM1 MYH2 RAD51C MMP2 DNM2 FAT4 PIGV PPM1D PIGL MTM1 COL27A1 CNP WRAP53 NHP2 TUBB3 ECEL1 HYLS1 CHRM3 VANGL1 ITCH COL3A1 RNF125 LAS1L BGN APC2 PARN CLP1 ARL3 FGFRL1 WT1 WNT3A TBX4 DACT1 ADAMTS10 DPP6 FANCG FANCA MTTP CEP290 SVIL HP_ABNORMAL_FOOT_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOOT_BONE_OSSIFICATION SLC35D1 INPPL1 FLNA LBR CANT1 EIF2AK3 EBP COL2A1 HOXA13 TRIP11 PTH1R MATN3 HP_ENURESIS_NOCTURNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS_NOCTURNA SLC5A2 AQP2 BNC2 RNF168 AVPR2 FA2H HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE SLC34A1 MST1 DMP1 ENPP1 VCP CYP2R1 SLC34A3 CYP27B1 ABCC6 TCF4 GPR35 CCDC115 CTNS ESR1 HP_PULVERULENT_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULVERULENT_CATARACT GJA8 VIM BEST1 MAF LIM2 HSF4 CRYBB2 FTL CRYBB1 HP_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLAR_CATARACT PEX5 VIM PITX3 APC CRYAB EPHA2 ITM2B BBS2 HSF4 ZBTB20 COL4A3 HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL MST1 IL12A IFIH1 VPS45 POMP IL6R GBA MVK SPINK5 SETX HLA-DRB1 SFTPA2 IL2RB EXTL3 FAS SPIB CARD9 NCKAP1L CCND1 MUC5B RASGRP1 KRT8 VPS33A MMEL1 IKBKG GPC4 ADA NRAS PIK3CD PGM3 PSTPIP1 IL6ST ELANE PSMB8 OTULIN CD3D PSMB4 CDSN DOCK8 CD247 TGFB1 COL1A1 MS4A2 PRKCD IL2RG SH2D1A IL2RA WAS STAT3 XIAP PEPD GPR35 IL12RB1 UNG KRT18 GPC3 SLC7A7 IL7R IRAK4 PLA2G7 FOXP3 COL7A1 MYD88 CASP10 NSMCE3 LIG4 POU2AF1 KRT9 CD3E CD40LG TERT TYK2 STAT5B FASLG KLHDC8B NLRP1 CD40 IRF5 TNPO3 TNFSF15 KRAS IL4R PSMB9 SCARB2 KRT1 ALB STING1 ADAM17 IFNGR1 DNMT3B SFTPC TCF4 HP_ABNORMALITY_OF_HAIR_TEXTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_TEXTURE IFT43 DSG4 ATP7A RNF113A ERCC6 TP63 IFT122 DSP LIPH PPP1R15B SUMF1 ALMS1 RRAS2 NRAS BCS1L RASA2 TTC37 TARS1 KRT25 SPINK5 NAA10 TRMT10A NECTIN4 USP9X MTOR PIGL TCIRG1 ERCC3 SUZ12 RAF1 TNFSF11 LIG4 OCRL GTF2E2 TINF2 KRAS KCTD1 MSX1 EDAR KRT74 SEC23A HEPHL1 ITGA3 GAN CDH3 RPS6KA3 NECTIN1 RPS23 EZH2 SOS2 BRF1 A2ML1 ZMPSTE24 PADI3 SOS1 SMAD4 MED12 RIPK4 HPD GTF2H5 SON CARS1 WNT10A SKIV2L TCHH HRAS SGSH KRT86 ERCC8 MPLKIP ASL CDK13 TMCO1 BRAF KRT71 CCDC47 KANSL1 KRT83 TGM3 DCAF17 GJB6 CBL SMARCAL1 PLOD3 JUP LPAR6 COL3A1 NAGLU MRAS KRT17 SNX10 CERT1 CSTB MAP2K2 PYCR1 PKP1 SLC7A7 FLNA KRT85 TRPS1 NBAS PQBP1 SIN3A EDARADD LZTR1 RLIM RMRP EED PCNT EBP ERCC2 OFD1 PORCN GJA1 PTPN11 EDA CDSN ST14 KANK2 ALX4 SVBP AHCY TWIST2 RIT1 MAP2K1 CBS WDR35 SLC25A24 SUOX GNPTAB KRT81 SATB2 NSUN2 ATP6V1A CLCN7 GNS ATAD3A PHGDH VPS33A SREBF1 NOTCH3 EPS8L3 AFF4 RRAS NOTCH2 EFNB1 IKBKG TRNT1 NSD1 RPL21 HGSNAT ATP6V1E1 ATP6V0A2 GJB2 DSC2 KAT6B GATAD2B HR HP_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_PATTERN MEOX1 KDM1A DSG4 UBR1 APC PPARG HPGD SMPD4 ECM1 CDH1 AEBP1 CPOX FGFR3 ALMS1 RRAS2 DOCK7 FLNA NRAS ZIC1 RASA2 FGD1 TSR2 TRMT10A NECTIN4 PHF8 DOCK6 MEIS2 MYT1L GDF6 MAPK1 ASXL1 MID1 SLC35C1 NANS TRMT1 ACTL6B SMC1A ANKRD11 LIG4 FBXW11 CPLX1 TBC1D20 RAB3GAP2 HDAC8 TBC1D24 NSD1 NOTCH3 MED13 ARID1A ITGB4 NSD2 ADA2 VPS13B SLC9A7 THOC6 ACTL6A KCNJ8 TANC2 CCDC22 RPL35 RPL15 CNBP SETD5 BSCL2 RPL31 VPS51 RAB3GAP1 XYLT2 KCNH1 FRAS1 SOS2 TSC1 KDM5C SRCAP PIK3CD ALDOA DOCK3 NRXN1 FREM1 IGF1 DDX6 SLCO2A1 A2ML1 MAN1B1 MAFB ALX1 PADI3 PPP2R1A SOS1 RAF1 SPECC1L MED12 GATA1 ADNP LMX1B NELFA RPL26 FOXP1 CNOT3 PPP1R15B MAP3K7 PTPN11 HERC2 FRMD4A INSR CDH2 BRAF SHOC2 ACTB PWAR1 NBN WASHC5 XRCC4 TP63 CNTNAP2 SETD2 TMCO1 NEPRO NTNG1 TCF20 CHST3 MYH3 SMARCA2 CAVIN1 TGM3 TBX2 UBE2A FGFR2 INTU KCNN3 COG7 KRT83 POLR1B BRCA1 MAGEL2 GRIP1 MRAS IRX5 NPAP1 RPS15A CBL STAG2 BLM YY1 DMPK ZMIZ1 SMC3 SNORD116-1 MAB21L1 MAP2K2 CHRNG WRN RPL27 PEX6 SH2B1 NOVA2 PACS1 KRT85 TBX15 NIPBL POLR1C HSPG2 MAP2K1 GDF3 TWIST2 ABCC9 TWIST1 SIN3A NFIX CUL4B KRAS LETM1 SPRED1 EMC1 KMT2E COG5 IFIH1 RPS17 DLX4 MKRN3 SNORD115-1 MADD RPL11 CCNK LRP2 RPS19 PORCN CD96 ALX3 NR3C1 TECPR2 SVBP CAV1 ERMARD ACTG1 B3GAT3 APC2 PEPD PQBP1 RPL35A RPS10 RPS7 KMT2A ATP6V1B2 IL2RA ZMPSTE24 TFAP2A PPP1CB PIGK RERE STXBP1 AGPAT2 SALL4 EFNB1 SRY PEX19 KRT81 KRT86 SLC25A24 RBM10 NSUN2 TAF6 MAN2B1 MED13L RLIM KREMEN1 ARX HUWE1 EP300 CTBP1 BPTF RPS24 TCF12 PWRN1 FGFRL1 TCOF1 RPS26 RPS28 CHN1 CREBBP SMARCE1 PSMD12 DPM2 RALGAPA1 NDN RPS29 RPL18 RRAS NOTCH2 BCORL1 IKBKG FOS SLC12A6 PIK3C2A NF1 FREM2 RIT1 LMNA PEX1 SYT1 ANTXR1 LZTR1 RPL5 ADARB1 POLR1D GNE COL17A1 CWC27 AIFM1 TBL1XR1 UGP2 RPS27 LRPPRC KNSTRN KLHL7 ZC4H2 WDFY3 RAD21 STAMBP MYO18B HR SMARCD1 TRAPPC4 SPOP SNRPN RAB18 WNT4 POLA1 HP_ABNORMAL_HAIR_WHORL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_WHORL UBR1 DOCK3 DDX6 MED13L RLIM MAN1B1 PPP2R1A EP300 BPTF MED12 FLNA PWRN1 KMT2E FOXP1 MYT1L HERC2 MKRN3 CREBBP SNORD115-1 PSMD12 UBE2A TRMT1 NDN ACTL6B PWAR1 BCORL1 FBXW11 SVBP LMNA MED13 NTNG1 TCF20 ACTL6A TANC2 MAGEL2 NPAP1 WDFY3 STAMBP YY1 ZMIZ1 TRAPPC4 SNORD116-1 SNRPN POLA1 WRN HP_ASYMMETRY_OF_THE_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_THE_EARS GAD1 RAB3GAP2 SMS PUF60 BCOR HP_CHERRY_RED_SPOT_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHERRY_RED_SPOT_OF_THE_MACULA HEXA CTSA GLB1 HEXB SMPD1 TMEM231 ASAH1 NEU1 GM2A PSAP GALC HP_NAEVUS_FLAMMEUS_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID DVL3 DVL1 PUF60 WNT5A FZD2 DIS3L2 HP_PEDAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDAL_EDEMA TGM1 KIF1A MEFV MAGEL2 NDN SNRPN SETD2 VEGFC RNF13 NKX2-5 CITED2 APC2 GJC2 FN1 GBA OCA2 TBX20 SCARB2 ALB NSD1 GATA6 FLT4 GATA4 TET2 PRKAR1A ACTC1 ZNHIT3 MYH6 PLAA TLL1 MKKS RBM8A MYD88 HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES GDF5 BMPR1B KCNN3 LMNA FIG4 VAC14 HP_MEDIAL_FLARING_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAL_FLARING_OF_THE_EYEBROW BBS12 NPHP1 TRIM32 BBIP1 ARL6 WDPCP BBS7 LZTFL1 BBS10 SDCCAG8 IFT172 MKKS BBS5 SIN3A BBS9 MKS1 BBS4 TTC8 IFT27 ELN MLXIPL BBS2 CEP290 APTX BBS1 C8orf37 HP_BLEPHAROCHALASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHAROCHALASIS COL5A2 GSN ADAMTS2 COL1A1 CDH11 COL5A1 HP_DERMATOCHALASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMATOCHALASIS COL5A2 PIK3CD COL1A1 EFEMP2 COL5A1 FBLN5 KNSTRN HP_DIMPLE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMPLE_CHIN ERF RUNX2 KCNJ6 MYH3 CTU2 NALCN TFAP2A SEMA3E TBX22 PIEZO2 PIK3R1 CHD7 SPECC1L EZH2 TWIST2 HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT ZMPSTE24 COL5A2 COL5A1 PLCB4 VPS13A IDS COL1A1 LAMA2 EDN1 LMNA GNAI3 HP_ABNORMALITY_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PREMAXILLA COLEC11 GLI2 NFIX SMOC1 EFEMP2 HRAS NRAS PTCH1 HP_PROMINENCE_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENCE_OF_THE_PREMAXILLA COLEC11 NFIX EFEMP2 HRAS NRAS HP_ABSENT_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOE WNT7A SALL4 DLL4 PUF60 SOX4 CHSY1 NOG HOXA13 DPF2 SF3B4 BMPR1B KCNH1 ABCC9 GPC4 ARID2 APC LETM1 MGP KMT2E MYT1L ARID1B FLNA EOGT LMBR1 GDF5 TRMT1 NOTCH1 ACTL6B PORCN FGFR1 FGFR2 FBXW11 CPLX1 SOX11 SVBP GLI3 RBPJ MED13 FIG4 CHST11 BMP2 NSD2 TRPV4 SMARCD1 ACTL6A KCNJ8 TANC2 RIPK4 IHH ROR2 DOCK3 DDX6 RLIM CTBP1 BPTF SMARCE1 DACT1 KAT6A NELFA ACVR1 ARHGAP31 FGFRL1 LRP4 DOCK6 DOLK DLX5 PTHLH SMARCA4 GJA1 HOXD13 PSMD12 ARID1A BHLHA9 NOTCH2 LMNA VAC14 SMOC1 BCORL1 SALL1 WNT10B NTNG1 TCF20 KCNN3 SMARCC2 NEK1 WDFY3 SMARCB1 ZMIZ1 TRAPPC4 HP_BROAD_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_COLUMELLA RDH11 PIK3C2A FLI1 CWC27 EXOSC2 GJA1 HDAC4 ATP6V1E1 ALX4 ZSWIM6 CKAP2L SRCAP HP_PALMAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_HYPERKERATOSIS KRT83 GJA1 KRT6A TGM1 MBTPS2 KRT5 FERMT1 DSP PTEN SDR9C7 KRT9 NECTIN4 AAAS KRT10 GJB2 SMARCAD1 KRT16 PIK3CA AAGAB COL7A1 AKT1 NECTIN1 CTSC NLRP1 KRT17 PIGL SLURP1 HPGD KRT14 PKP1 GJB6 KDSR KRT1 TERT KRT6B PLEC ZC4H2 MTX2 COG6 RHBDF2 HP_ECTOPIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_CALCIFICATION RNASEH2B STAT1 PEX11B DNM1L IFIH1 CYP11A1 PCSK9 ECM1 ATP7A ERCC3 ERCC4 ERCC6 PEX5 SUCLA2 ARSL AP1S2 PDGFRB TINF2 LBR GBA FARSB CFTR PEX12 ABCG5 KCNJ1 ATP7B MGP GNAQ SAMHD1 PAH CTC1 APP RTEL1 ACP5 ENPP1 MT-ND1 FGFR1 PARN ABCC6 VPS33A PEX6 CTNS PRSS2 TERT SMARCB1 PEX2 FAM20C COL11A1 CTNNB1 PSMB8 CTRC OCLN GATA5 PRSS1 DHCR7 MYORG NSDHL PDGFB TNFRSF11A USP18 MEN1 MT-CO1 SLC34A2 WRN NRAS PTCH2 MT-TS2 PEX1 SLC20A2 COLGALT1 PRKAR1A DDR2 TSC1 PHGDH ADAR SNRPB TNFRSF11B PDE4D MT-ND5 QDPR NKX2-5 FAM111A DENND5A PEX26 PEX16 AIRE PEX13 NSMCE3 CLCNKB CASR SUFU MT-ND6 GGCX ERCC5 FBN1 KRAS AGXT NEU1 ERCC1 GUSB ERCC8 SLC26A2 CYP27A1 RELN HGD MT-TL1 CYP2U1 MYO5A ACVR1 MT-TH GCM2 ALPL RNASEH2C WRAP53 ODC1 PEX3 NHP2 KIF22 XPR1 DLK1 DKC1 STAT2 PEX14 NOTCH1 TREX1 SPINK1 GALNT3 SLC46A1 TYROBP NT5E TERC ANKH EIF2AK3 CDC73 KL GNA11 GNAS SMAD6 LMNA PEX19 CPA1 VPS35L LDLRAP1 MT-TF JAM2 USB1 GJA1 FXYD2 PEX10 PTCH1 MYMK ABCG8 IFNG EBP MT-CO3 CTSC PTH1R PEX7 TREM2 MT-TQ PTH SC5D THRB RB1 MEG3 KRIT1 LIPA RTL1 ZMPSTE24 ZBTB20 ACD MTX2 CA2 TTC7A NOTCH3 APOB HSD17B4 SLC2A1 AMER1 NPM1 GNPAT SLC12A1 TCIRG1 RNASEH2A CPT2 COL2A1 DAG1 LDLR SLC16A2 HRAS FLNB RNASET2 OPA1 SLC12A3 MT-TW SNORD118 NOP10 GDF5 BRAF ERCC2 MT-ND4 BMPR1B SLC29A3 ISG15 AGPS TSC2 AP2S1 FGF23 PSAT1 MT-CO2 HP_HYPERACUSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACUSIS BAZ1B GM2A CLIP2 LIMK1 ELN RFC2 TBL2 FLII DEAF1 RAI1 GTF2IRD1 MLXIPL GTF2I IQSEC2 HP_SKIN_DIMPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_DIMPLE ALPL CLIP2 DVL3 TBL2 ERGIC1 NSUN2 OTUD6B FUZ COX7B HOXA13 DHPS AEBP1 YWHAE CTBP1 RMRP ODC1 NCAPG2 DEAF1 SHANK3 WNT5A UBA1 NDUFB11 MED12 SETD5 NELFA ROR2 EXTL3 LETM1 FGFRL1 KMT2A TAF1 USP9X NXN B9D2 ARID1B VANGL1 TBXT KIF15 DYRK1A MASP1 KANSL1 FAT4 CTCF CD96 TBX4 LIG4 DVL1 BAZ1B LIMK1 CCL2 CPLX1 SMC1A ELN LIFR KCNK9 COLEC10 GTF2IRD1 GTF2I VANGL2 NSD2 ASXL1 DCHS1 CDK10 EBP RPL10 DPAGT1 RAB23 PSMD12 RFC2 HCCS HNRNPK NADSYN1 SOX9 ANK1 FZD2 PAFAH1B1 B3GLCT TMCO1 SPOP HIC1 HP_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA LIPN NOD2 ALOX12B RECQL4 CD28 ELOVL4 ERCC3 TRPM4 EGFR DSP SREBF1 KCNQ2 HLA-DRB1 GLUL CDKN1B SCN9A AIP KDSR DSG4 XPC DDB2 HLA-DQB1 PIGL WNT10A KRT10 MT-ND1 EBP MT-TF KRT1 TRPV3 ALOXE3 RHOH ERCC5 PGM3 ATP2C1 PSMB8 MT-CO3 CDSN PEPD IL17RC SCN10A SLURP1 HPGD NSDHL MT-TQ SERPING1 IL36RN COL1A1 IKBKG AP1S1 AQP5 MT-CO1 MBTPS2 ITGA3 KRT9 LIG4 MT-TS2 FERMT1 SULT2B1 GJB3 GJB4 MT-ND5 GJA1 USP8 PLCG2 TGM5 COX7B DDR2 IL17RA ERCC2 RNF168 NDUFB11 CSTA FECH ADGRE2 STAT3 CTLA4 IL17F LRP1 MT-ND6 ADAM17 PERP TNFRSF1A SLC39A4 KIT KRT16 NLRP3 CTSB XPA SCN11A GJB6 HLA-B COL7A1 TGM1 XRCC4 MEFV ANAPC1 MT-TW KRT83 MT-TL1 LORICRIN ALDH3A2 MT-TH CLEC7A MT-ND4 STING1 ERCC4 HCCS PORCN KRT5 PDGFB GJB2 MVK TNFRSF1B TRAF3IP2 MT-CO2 IKZF1 KRT2 PKP1 HP_GONADAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_NEOPLASM RAD51D RAD51C STK11 TP53 WT1 PALB2 PIK3CA C11orf95 NR5A1 PRKAR1A PTEN BRIP1 RAD51 CDKN2A TGFBR2 STAR PMS2 CDKN1B KRAS CDC73 AKT1 KANSL1 CDH1 BRCA2 FAN1 IGF2 DHH APC2 ZFPM2 SRY SETBP1 BRCA1 DHX37 MSH6 PAX6 PALLD NBN PTCH1 AR DICER1 MLH1 NR0B1 VAMP7 DMRT3 EPCAM MLH3 KEAP1 CCND1 DMPK SOX9 STS STAG3 RNF43 RELA EP300 FLI1 CHEK2 PMS1 GATA4 NSD1 SUFU MNX1 TXNRD2 HNF1B FGFR2 CREBBP WNT10A IDH2 IDH1 MAP3K1 MRAP SETD2 VHL LMNA PRKN KCNQ1 KCNQ1OT1 CTNNB1 NNT CDKN1C BARD1 EWSR1 MDM2 MSH3 SMAD4 MSH2 PTCH2 OPCML MC2R MRE11 HNF4A WWOX RAD50 WRN HP_URINARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_TRACT_NEOPLASM NOD2 H19 HNF1B WT1 BUB1B AXIN2 NR5A1 KRAS PMS2 CDKN1B TP53 DIS3L2 FIBP SEC23B PTPRJ FGFR3 PIK3CA BUB1 B3GALT6 AKT1 ALX4 HNF1A TRIM28 NSD1 FAN1 PRCC SDHAF2 FH MLH1 DLC1 VHL TSC1 TSC2 SETBP1 USF3 KLLN APC MSH6 POU6F2 CDC73 OGG1 DMRT3 EPCAM GPC3 MLH3 IGF2 PALB2 BMPER NTHL1 TRIM37 AURKA GPC4 GATA4 SDHD FN1 BAX REST HRAS SDHA TRIP13 TFE3 DICER1 BAP1 SLC25A11 SRC NF1 MSH2 PTEN CDKN1C MDM2 RB1 BLM WRN PDGFRL FLCN MVK CDKN2A TGFBR2 RET CTNNB1 FOXE1 LMNA MINPP1 COL14A1 TMEM127 IFNG BUB3 MET ZFPM2 SRY DHX37 BRCA2 PAX6 SDHB CEP57 SDHC EXT2 NR0B1 VAMP7 FERMT1 NRAS MCC KEAP1 CCND1 MAX SOX9 RNF43 MDH2 KCNQ1OT1 PMS1 DCC RNF139 HDAC4 CHEK2 DLST HABP2 RPS20 KCNQ1 STK11 TBX18 PLA2G2A PHF21A RAD54B AAGAB TLR2 PTPN12 SEMA4A BMPR1A EP300 PTCH1 MAP3K1 HNF4A ATP7A WWOX KIF1B HP_GENITAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENITAL_NEOPLASM RAD51D RAD51C STK11 WT1 MSH6 PALB2 BUB1B AXIN2 PIK3CA CXCR4 C11orf95 NR5A1 PRKAR1A RAD51 CDH1 PMS2 SLC6A17 CDKN1B KRAS TP53 AKT1 SEC23B KANSL1 PTPRJ BUB1 STAT6 GREM1 FAN1 DHH PTEN CDKN2A MLH1 DLC1 DOCK8 SETBP1 USF3 RNASEL BRCA1 POLD1 KLLN BRCA2 APC PALLD NBN AR DMRT3 EPCAM MLH3 KLF6 NTHL1 AURKA STAG3 RELA FLI1 GATA4 SDHD SUFU MNX1 FGFR2 BAX IDH2 MAP3K1 FGFR3 DICER1 SETD2 VHL SRC MSH2 NNT CDKN1C BARD1 EWSR1 MDM2 PTCH2 EPHB2 MC2R RAD50 WRN BMPR1A POLE PDGFRL CHEK2 BRIP1 TGFBR2 STAR CDC73 CTNNB1 BUB3 IGF2 APC2 FLCN ZFPM2 SRY DHX37 FH PAX6 CEP57 PTCH1 SDHC NR0B1 VAMP7 COL4A6 NRAS MCC KEAP1 CCND1 DMPK SOX9 STS MSH3 RNF43 EP300 PMS1 DCC NSD1 TXNRD2 HNF1B CREBBP MXI1 WNT10A COL4A5 IDH1 SDHB MRAP ZFHX3 LMNA RPS20 PRKN TRIP13 KCNQ1 KCNQ1OT1 PLA2G2A NAB2 RAD54B TLR2 PTPN12 SEMA4A SMAD4 OPCML MRE11 MAD1L1 HNF4A WWOX HP_ABNORMALITY_OF_THE_LEYDIG_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS MRAP GNAS LHB MC2R SMS CYP11A1 TXNRD2 ALMS1 STAR FSHB NNT HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION HTT GABRB3 CACNA1H MT-ND5 DMPK JRK MT-TW MT-CO3 PSMD12 POMT1 MT-TL1 PRKAR1B MT-TQ MT-TH SLC2A3 MT-ND4 NOTCH3 MT-CO1 MAPT DARS2 ABCD1 MT-ND6 KCNC3 PMPCA ELN MT-ND1 MLXIPL MT-TS2 NF1 MT-TF MT-CO2 BPTF GABRG2 GABRA1 SLC2A1 HP_HEMANGIOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOBLASTOMA SDHD CCND1 TMEM127 SDHA MAX VHL SLC25A11 BMPR1A PTEN SDHB SDHAF2 FH MDH2 NF1 SDHC DLST RET KIF1B HP_EVERTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EVERTED_UPPER_LIP_VERMILION NAA10 EDA2R EDAR EDA SETD1A AP4M1 WDR26 AP4B1 RAI1 GBA MAP1B KCNK4 CREBBP AP4E1 AP4S1 KCNH1 EDARADD HP_TENTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENTED_UPPER_LIP_VERMILION PIGW PGAP3 ZIC2 SHH FGFR1 SMPD4 PIGB STRADA RSPRY1 ATRX PIGT GPC4 NCAPG2 PGAP2 PIGV KCNJ6 SIX3 PAX3 NXN MED25 MEIS2 PIGN PREPL ACTA1 FLII ZNHIT3 MAP3K20 NALCN RAI1 MECP2 PLAA DIS3L2 KCNK9 DISP1 PIGO NEXMIF DLL1 MEG3 HACD1 PIGY TBCK RTL1 NODAL SLC25A46 ADAMTSL1 KCNH1 IL1RAPL1 SUFU TGIF1 PRKACB DMPK TPM3 MYL2 CHAMP1 DEAF1 ITGA7 GALNT2 GLI2 TMEM237 ALDH6A1 PPP2R1A UNC80 CDC42 GAS1 IER3IP1 MESD FGF8 ROR2 TCF20 MYOD1 FOXG1 WDR4 CDON TDGF1 FAT4 BRAT1 PIGL EEF1A2 MSL3 FOXH1 SELENON IQSEC2 DCHS1 RAPSN PURA PTCH1 TPM2 RYR1 MBD5 DLK1 RAB11B HP_U_SHAPED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_U_SHAPED_UPPER_LIP_VERMILION MAPK1 ZC4H2 CDK19 ATRX EHMT1 ZSWIM6 OFD1 HP_OPEN_BITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_BITE KLK4 CLIP2 RUNX2 PDE4D DSPP TBL2 RELT ITGB6 POLR1C ENAM FGFR3 WNT5A FGFR2 TWIST1 AMELX CUL4B ROR2 RAI1 NXN HNRNPK FAM83H ATP6V1B2 DVL3 OFD1 NOTCH2 BMP2 TCOF1 BAZ1B LIMK1 ELN SOBP OCRL ADAMTS2 GNAI3 GPR68 GTF2IRD1 BRAF GTF2I MMP20 DVL1 KCNN3 POLR1D PTEN KCNH1 RFC2 PORCN FZD2 PRKAR1A HP_PROTRUDING_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_TONGUE CDCA7 EHMT1 FAM20C NRXN1 PTH1R MGAT2 ATRX PIGB NEU1 CSNK2B SRPX2 GATA1 UBE3A LAMA2 SLC25A24 FTO PI4KA DNMT3B COG7 INPP5E CCDC22 TAF1 VPS13A OCA2 NFIX ADGRG1 SLC35C1 RALGAPA1 CHUK PEX1 ZBTB24 HELLS CLIC2 HP_EPIDERMAL_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_NEVUS NRAS KRAS NEK9 PIK3CA HRAS AKT1 PTEN HP_ATONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATONIC_SEIZURE KDM5B ATP6AP2 ASAH1 DOCK7 CLTC STX1B GABRA1 AP2M1 KCNA1 GRIN1 HCN1 PIGP EPM2A MBD5 TRIM8 PIGQ SCN1A PAFAH1B1 HIVEP2 ZMYND11 SIK1 PPP3CA DYNC1H1 TRPM3 GABRG2 SLC6A1 TAOK1 NHLRC1 MYT1L CSNK2B SCN2A PRICKLE1 CACNG2 PCDH19 SCN9A DMXL2 ASH1L GABRB3 CEP85L PIGM PNKP CUX2 GNAO1 GRIN2B CAMK2B FRRS1L KCNQ5 CHD2 DEAF1 CAMK2A ADGRG1 MAPK10 PHGDH KIRREL3 SLC25A22 NGLY1 BRSK2 ADGRV1 EEF1A2 COX8A CASK DYRK1A SET CIC ARX GRIN2A SCN1B EPB41L1 STXBP1 NEUROD2 CDH15 DNM1 CUX1 CHAMP1 GABRD GAMT KIF1A DOCK8 GOSR2 SYNGAP1 CSNK2A1 CDKL5 TCF4 RAB11A MED12L HP_HEMIFACIAL_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIFACIAL_SPASM INPP5E BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 PDGFB SMO HP_IMPAIRED_TEMPERATURE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TEMPERATURE_SENSATION MAGEL2 NDN SNRPN SIM1 HPGD OCA2 NTRK1 SLCO2A1 TGM1 AEBP1 MFN2 NGF HSPB1 ABCA1 HP_IMPAIRED_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TACTILE_SENSATION NARS1 KLHL9 DDHD1 GALC PLEKHG4 DHH DCAF8 SACS CLTCL1 HARS1 MPV17 SETX HK1 MORC2 HP_IMPAIRED_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PROPRIOCEPTION PDYN PIK3CD PIEZO2 FXN PRX TWNK POLG SETX CYP7B1 SAR1B DNAJC3 REEP1 GBA2 TBP GPI NAGLU RFC1 POLR3A PLD3 STUB1 OPA3 ATXN1 RTN2 FLVCR1 EGR2 XRCC1 RNF170 MPZ MFN2 PMP22 TDP1 DARS2 MTTP PLEKHG4 KNSTRN VPS37A ATN1 VAMP1 HP_ABNORMALITY_OF_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PAIN_SENSATION CDKL5 ZFHX2 SCN9A CCT5 CHAMP1 DEAF1 LIFR DSE SCN10A KCNQ1OT1 MFN2 WNK1 CACNA1A H19 SHANK3 ALDH18A1 HSPB1 IGF2 PWRN1 MADD GABBR2 DDHD1 HDAC4 CHST14 MECP2 HERC2 FLII KIF1A HNRNPK MKRN3 FBN1 SNORD115-1 ELP1 SCN11A NDN PRPS1 PWAR1 ATP1A2 NTNG1 RAI1 ZEB2 SYNGAP1 NTRK1 GRIA3 RETREG1 SORD SCN1A NGLY1 NGF IQSEC2 HK1 AIFM1 STXBP1 TDP1 PRRT2 MAGEL2 PMP22 NPAP1 OPA1 MEN1 CLTCL1 UBTF HARS1 EBF3 GJB1 SNORD116-1 MPV17 SNRPN ABCA1 HP_SPONTANEOUS_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_PAIN_SENSATION SCN1A PRRT2 PMP22 CACNA1A ATP1A2 HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION AP1B1 AP1S1 ATP7B SPATA5 ATP6V0A2 TMPRSS6 COG2 CP SCO2 HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES ST3GAL5 DCPS NSUN2 IQSEC1 GNAO1 CDKL5 FMN2 AIMP1 GNB1 MED13L WASHC4 PCDH19 SLC45A1 PIGT MBOAT7 DOCK7 SLC25A22 CC2D1A ST3GAL3 C12orf4 KCNA1 CLIP1 PIGP HNMT TRAPPC9 CASK TRIM8 PIGQ RSRC1 NDST1 GABRG2 FBXO31 MED25 MYD88 SIK1 SLC25A10 MED23 GRIK2 STXBP1 ARX B3GALNT2 SARS1 METTL23 TUSC3 PGAP1 SCN1B GABRA1 CRBN ACTL6B TECR NEUROD2 KCNMA1 MAN1B1 SCN2A TNIK EZR FRRS1L EDC3 FGF12 SCN1A PRSS12 DMXL2 KDM5B CARS2 LINS1 CLTCL1 PIGC CRADD ZC3H14 LMAN2L PNKP PPP3CA SCN9A HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY KCNA2 AARS1 NUS1 ARV1 GRIN2A CLTC DALRD3 GABRA2 TRAK1 SLC13A5 GRIN2D GABRA5 PIGY NTRK2 EEF1A2 SCN3A SZT2 SCN8A PPP3CA GABRG2 PARS2 FGF12 CACNA1A SLC1A2 STXBP1 AP3B2 HCN1 CDK19 ACTL6B KCNB1 CYFIP2 WWOX SYNGAP1 UBA5 DNM1 CACNA1B YWHAG ATP6V1A GABRB2 CNKSR2 DHDDS SYNJ1 NECAP1 HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY C9orf72 VCP MAPT PSEN1 CHMP2B SQSTM1 KPTN CYP27A1 RNF13 GRN CDKL5 TMEM106B TREM2 HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ GABRB3 CACNA1H JRK SETD1B GABRG2 GABRA1 SLC2A1 HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_3_5_HZ http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_3_5_HZ AP2M1 EFHC1 CHD2 KCNMA1 SLC6A1 GABRG2 HP_EEG_WITH_SPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES CLCN2 JRK GNAO1 VAMP1 CHD2 PIGW KCNMA1 PGAP3 SRPX2 GABRG2 SLC25A1 STX1B PIGT SLC25A22 PGAP2 ADGRV1 KCNQ3 SCARB2 AP2M1 PSAT1 SNAP25 COL13A1 KCNA1 HCN1 PIGP ADGRG1 CASK TRIM8 PIGQ PAFAH1B1 SLC5A7 PIGV PIGO SIK1 SAMD12 EFHC1 MYO9A GABRB3 CACNA1H GABRA1 TBC1D24 SCN1A PIGL ARX SETD1B SLC6A1 CACNB4 SCN1B CHAT SYT1 STXBP1 NEUROD2 SCN2A PI4KA GABRD AGRN CILK1 PIGY GRIN2A CSTB STARD7 DMXL2 SYT2 CDKL5 PRICKLE1 SCN9A PNKP SLC18A3 SLC2A1 HP_EEG_WITH_BURST_SUPPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_BURST_SUPPRESSION SIK1 GNAO1 PNPO GAD1 ARX UGDH DMXL2 ALG14 SCN1B ALG11 STXBP1 NEUROD2 SCN2A SLC25A22 KCNQ2 KCNA1 PIGP DPM2 CASK CDKL5 TRIM8 PIGQ PNKP HP_DELAYED_FINE_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_FINE_MOTOR_DEVELOPMENT APC2 TET3 FIG4 CNOT3 CLP1 CLCN7 ITPR1 SNX14 FDXR CARS1 COL12A1 CDH2 TUBB3 EBF3 KAT8 HP_RECEPTIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECEPTIVE_LANGUAGE_DELAY FBXW11 SH2B1 SVBP GRHL3 DOCK3 FLCN DDX6 MED13 RLIM FOXP2 NTNG1 TCF20 BPTF ALMS1 ACTL6A TANC2 UBB SPATA5 KMT2E MYT1L KMT2C WDFY3 PSMD12 TRMT1 EHMT1 ZMIZ1 ACTL6B TRAPPC4 PAK1 BCORL1 HP_INTELLECTUAL_DISABILITY_SEVERE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_SEVERE DCPS IQSEC1 GRIA3 NDUFA4 PIGW NFIX NDUFA13 RAC3 HTT AP4M1 ATRX PRMT7 KCNH1 DMD AP1S2 SLC9A6 GDI1 STAT3 SLC6A17 ACOX1 TRMT10A C12orf4 SPATA5 CEP152 GRIN1 THOC2 ZNHIT3 GMPPB MFSD2A SLC35C1 CYB5A KANSL1 COPB2 ZMYND11 PAK1 CPLX1 TBC1D20 PDX1 HDAC8 FKTN ARHGEF6 TAOK1 PET100 NSD2 SLC35A3 MYT1L CTSD THOC6 FRRS1L MECP2 NDUFA12 ASH1L KIF7 NACC1 CC2D1A CRADD PDHA1 SPTAN1 TELO2 BRF1 DEAF1 OTUD6B MAP11 WASHC4 SNX14 CTNNA2 MAN1B1 SLC45A1 SETBP1 TSHR UPF3B TIMM50 SMC1A BRSK2 LMX1B FUCA1 NELFA PHF6 DYNC1I2 PPP1R15B TCF4 KCNE5 IQSEC2 GOT2 AHSG FBXO31 SHMT2 RAB18 RAB3GAP2 CNTNAP2 GRIK2 SARS1 MCPH1 GCK POMT1 ARHGEF9 CDH15 UBE2A PURA EXT2 GAMT HUWE1 DCHS1 KIF1A DOCK8 NDUFA9 UBTF YY1 MT-ATP6 ZC3H14 NDUFV1 DMPK MBD5 SMC3 SEMA5A RAB11A MED12L STXBP1 CEP135 NSUN2 NKX2-5 LARP7 KDM5B GRIN2A SURF1 NIN RFT1 CRBN PGAP2 PEX7 CLTC PAK3 ECHS1 LETM1 ATIC DNMT3A PYCR2 COG5 PHC1 FOXRED1 ASPM KLF13 HIVEP2 LARGE1 MED25 UBA5 CAMK2A KAT6B PPP3CA DYNC1H1 SHROOM4 TMEM107 TRPM3 SYNGAP1 CHRNA7 PGAP1 AGTR2 WIPI2 NDUFAF6 UBE3A AP4S1 MGAT2 RPL10 TACO1 EDC3 CNKSR2 SLC16A2 L2HGDH MBTPS2 AP4B1 SRD5A3 LMAN2L CENPJ POMT2 GRIN2B NDUFV2 KCNQ5 PCNA RAB3GAP1 SLC12A2 NDUFS7 ZNF41 KAT6A KIRREL3 PDHX DYRK1A ST3GAL3 ROGDI SLC19A3 SLC35A2 CACNA1D NSD1 SLC9A7 PLEKHG2 GABRA5 EEF1A2 FOXE1 FRMPD4 PAX8 METTL5 SLC26A4 NDUFS2 TBC1D23 SDHA SET WDR81 RSRC1 CXorf56 CIC NDUFAF2 STAG1 TAF13 NDUFAF5 TECR HNRNPK AP4E1 GNB5 FTSJ1 HCFC1 NAGA SEMA6B RAD21 PIGC TRAPPC9 TRAPPC6B NDUFA2 FKRP PQBP1 CTNND2 PEX5 PGAP3 FOXG1 C2CD3 TSHB ACO2 MBOAT7 ACSL4 NKX2-1 PIGV KCNJ6 DAG1 ASXL3 CLIP1 AMMECR1 ASXL1 ABCC8 NANS NDUFA10 PAFAH1B1 NDST1 NALCN SOBP MED23 DLAT ZEB2 RPS6KA3 POGZ L1CAM CSNK2B CACNG2 PCDH19 PRSS12 GATAD2B DLG3 PEX1 MEF2C KDM5C CAMK2B NTRK2 KNL1 FMN2 ADGRG1 SNRPN NRXN1 SASS6 NEU1 UNC80 ERLIN2 SETD5 APC2 SON FOXP1 ZIC1 KCNJ11 USP9X PNKP EML1 TTI2 SNAP29 EHMT1 PIGL OPHN1 SETD2 METTL23 UQCRQ EPB41L1 MED12 NDUFS8 NDUFS1 OFD1 SATB2 SUCLG1 LIPT1 SMOC1 ARG1 ACAT1 WDR62 CYB5R3 CEP63 NCAPD3 PIGT ZNF81 HSD17B10 CUL4B FGFR3 HNMT TUBA1A SYP SMARCA2 MID2 KIF14 ALG13 NDE1 STIL B3GALNT2 NDUFS3 SUFU CDK6 TUSC3 MTFMT ZNF711 ANKLE2 NIPBL HERC1 TNIK PAH EZR PIGY KMT2A GLI3 CLCN4 LINS1 PLP1 TBR1 COX15 WASF1 BCAP31 CIT UROC1 EIF2S3 PPP2R5D AIMP1 ARX GALNT2 TMEM237 PTCHD1 CTBP1 TSPAN7 RAB39B FGFRL1 SLC13A5 HMGCL TOR1A USP27X INS PIGO TMX2 CUX1 CDK5RAP2 RTTN CHAMP1 HNRNPU PHYH IL1RAPL1 TMEM231 FRMD4A NDUFS4 PIGU OCA2 KLHL7 ARFGEF2 FAT4 POMGNT1 UBE3B HP_SENSORY_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_ATAXIA PIEZO2 PMP22 EGR2 FLVCR1 PRX GPI NAGLU TWNK RNF170 MPZ DNAJC3 HP_TENDON_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENDON_XANTHOMATOSIS TTPA ABCG8 LDLR APOA2 CYP27A1 PCSK9 ABCG5 APOE LDLRAP1 EPHX2 APOB GHR PPP1R17 HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION AP1B1 CLIP2 STAT4 PPARG DMD FKRP VCP PSEN2 IL6R SUCLA2 COL6A1 SETX PRPS1 HNRNPA1 FARSB CCDC115 FHL1 ACTA1 HAND2 GMPPB LARGE1 MYH7 RAF1 HFE RYR1 MAP3K20 PRF1 COL12A1 PSMB8 IGFALS OTULIN ANO5 PIEZO1 KCNA1 GTF2I UBA1 NEB POMT1 PLCE1 SLC25A13 NSUN2 GNPTG MAGI2 MYF6 TDP1 MSTO1 DOLK LMNA BSCL2 XIAP NEFH VPS13A LIMS2 CAP2 TANGO2 CRYAB B3GALNT2 PHKA2 NLRP3 FDX2 CRPPA SLC7A7 TXNRD2 PDSS2 TBL2 POLG2 DMGDH TTN STXBP2 ITGA7 SLC4A1 NPHS1 DNM2 GABRA3 PRKCD FTL GATAD1 TRAPPC11 IL2RA POU2AF1 CD244 GNE SDHD CASR PRSS1 CPT2 COL6A3 LAMP2 FTH1 FKTN GATC MYBPC3 TNNI3 PHKG2 POMGNT1 GAA HINT1 GLRX5 POMT2 MYPN LACC1 DOK7 FHL2 APPL1 LIMK1 CFTR FAH MET NLRP1 SLC40A1 INPP5K SGCA KCNJ18 UQCRFS1 DYSF CAPN3 COG7 MEFV POLG ALB NARS2 STEAP3 BIN1 DCLRE1C IL2RB SIL1 SCN4A DSG2 COQ8B ANKRD1 STAT2 ACTN2 DPM3 SPINK1 GCK SYNE1 RFXAP PIEZO2 CAV3 FLNC DNMT3B POMK TWNK HSPG2 PTPN22 GNPTAB CASQ1 PABPN1 COQ2 PMM2 MIF TTC37 TRPV4 SPIB COL4A1 BAG3 INS COG8 KLF11 HADH ALG8 CPA1 USB1 ABCC8 MMEL1 WDR73 MT-TL1 SLC30A10 POGLUT1 C1QBP TAF1A MPZ MT-TL2 RAG1 VCL SMAD4 TMPO LAMA2 SQSTM1 PUS1 PLEC CEL AHCY IL36RN PKLR TRAF3 B4GAT1 PRTN3 CPT1A INSR TLR3 NOS1 GATB CACNA1S BMPR1A DNA2 RFXANK CD247 IL12RB1 LTBP4 PLN COX20 SLC25A20 TK2 ATP6V1A KLHL41 TICAM1 SGCG XK MYL2 PIGY CSF2RB TCAP LRP12 IL1RN BCS1L COL6A2 OSGEP PNPLA2 PLA2G6 HLA-DPA1 B4GALT1 SLC35A2 TFAM ACADM DAG1 TNFRSF1A SMCHD1 DPM2 HNRNPA2B1 TAZ CHCHD10 COL9A3 CTLA4 TNNT2 PGAM2 ELN FOS ENO3 HLA-DRB1 IRF5 TNPO3 ACTC1 CSF2RA FAM111B TPM1 KCNJ11 DUX4 SGCD OCRL MICU1 DPAGT1 TPM2 TRMU ATP6V1E1 ATP6V0A2 PLVAP CSRP3 PLG NFKBIL1 HJV PTEN TSFM STIM1 ORAI1 TCF4 BLK COL7A1 UNC93B1 TMEM165 PADI4 IL6 HNRNPDL HLA-DQB1 TMEM43 SYNJ1 MKS1 ALG2 LDB3 TRIM32 CAVIN1 MYMK MTMR14 COG6 CCND1 NUP133 SBDS TET2 CP FLAD1 TPM3 VPS33A TKFC PRSS2 RXYLT1 SGPL1 PTPN2 NUP107 FARSA TIA1 STAT6 AR HLA-DQA1 LPIN1 ITGB4 ACADVL SLC33A1 HAMP GTF2IRD1 CD55 PTPRO PYGM HNF4A EMD RFC2 UBR1 SERPINE1 SDHA CNBP RNASEH1 ITGA3 RAG2 MGME1 FRG1 CRLF1 POPDC3 HAVCR2 RBCK1 NLRC4 LAMA4 ANKRD55 LAMB2 DGAT1 LIPE C19orf12 GFPT1 KCNE3 MYH6 IFNG TRIP4 TIMM22 MYOT ABCC9 DES FLI1 RFX5 CTRC PIGN TBK1 CPOX CNOT1 AP5Z1 NLRP12 MPV17 PET100 ISCA1 LMOD3 SRP54 SAR1B CIITA SLC25A42 ACAD9 ABHD5 CTNNB1 TFG TNFSF15 PDX1 POMGNT2 SYNE2 PGM1 SELENON CFL2 PLEKHG5 NEUROD1 STX11 KLHL9 TMPRSS6 AGL SGCB MT-TE DNAJB6 GOSR2 SLC22A4 LPL TNNC1 PPCS AFP LDHA PHKA1 MST1 IL12A LAMA1 DCXR ATM FN1 RASA1 SCN5A CHKB SLC16A1 HNF1A PDK3 ACTN4 RRM2B PYROXD1 PAX4 DGUOK COPA FKBP14 B2M CAV1 PSTPIP1 ATP5F1D TMTC3 GFER MIEF2 MVK ADSS1 AGXT SLC34A3 NPPA NEFL SLC25A38 DNAJC21 MPI CCBE1 KBTBD13 HACD1 MYO1E VMA21 ALG14 BMP2 MATR3 PRDM16 TF AIFM1 PSEN1 AGPAT2 KY GPR35 NPHS2 WDR4 AP1S1 LYST TBCD NEBL FOXP3 TRAPPC2L RNF168 MT-TN ISCU EFL1 ARHGDIA SLC52A2 APTX ADA2 QRSL1 PIK3R5 TMPRSS15 ITGA6 BAZ1B DHX16 NGLY1 IL10 HLA-DPB1 NEXN TMEM199 COA7 TOR1AIP1 NAB2 STING1 MAD2L2 BVES COG2 GIPC1 MTTP HBB IFNGR1 MYH14 KCNN4 TFR2 RBM20 DPM1 PEX6 ITK SLC25A4 SVIL HP_INCREASED_NUCHAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_NUCHAL_TRANSLUCENCY BAZ1B CLIP2 LIMK1 ELN TBL2 HDAC8 BUB3 BMPER ATN1 BUB1B FIG4 GTF2IRD1 TRIP13 GTF2I FGFR3 HNRNPK ODC1 NIPBL SMC1A ADARB1 PIGN SETD5 RFC2 KMT2A DHCR7 GPC6 CEP57 RAD21 SMC3 CSGALNACT1 BUB1 VAC14 HP_ABNORMALITY_OF_THE_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD HSPG2 WASHC5 PIGW PIGL TAPT1 F7 PACS1 ZMPSTE24 PGAP3 ADGRG6 MYD88 SCARF2 NRAS PHGDH GATA6 RAC2 LMNA MKS1 PGAP2 FANCB HOXD13 POR PIGY MUSK SERPINE1 WNT3 ITGB2 CCDC22 FOXF1 MCTP2 F13A1 F13B PIGV PIGO DDX6 HP_AVASCULAR_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS COMP MAN2B1 EXT1 TINF2 NPM1 HPGD ERAP1 TLR4 SLCO2A1 COL1A2 ATP7A COL2A1 TRPS1 GBA SIL1 EP300 TERC WNT5A SH3PXD2B PHF6 CDH23 ACAN TRPV4 RTEL1 CREBBP UBAC2 FGFR1 ELP1 CCR1 DYRK1A DVL3 KRAS UFSP2 SLC2A10 ORC1 STAT4 TERT USB1 MEFV PTPN11 SMAD3 HLA-B USP8 KLRC4 IL23R HBB ACTG1 IL10 CLCN7 FAS NOP10 IL12A TREX1 DVL1 SCARB2 MATN3 ACTB CTC1 WRAP53 PARN IL12A-AS1 COL1A1 NTRK1 ZMPSTE24 FZD2 NHP2 INPP5K C4A EXT2 CA2 ARSB DKC1 ADAMTS2 LMNA HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION BCKDHA BCKDK BCAT2 MCCC2 DLD MCCC1 BCKDHB DBT HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION GCH1 SPR PAH PCBD1 QDPR PTS FTCD HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION PSAT1 SLC7A7 PNPO SUCLG1 GLRX5 MMAB IRF6 PCCA GLYCTK MMAA COX8A PHGDH AMT GLDC PET117 GCSH PCCB PSPH SLC30A10 SARDH SLC25A13 MMUT HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION PSAT1 SLC7A7 PNPO SUCLG1 GLRX5 MMAB IRF6 PCCA GLYCTK MMAA COX8A PHGDH AMT GLDC PET117 GCSH PCCB SLC30A10 MMUT HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION PNPO MTR FAH SLC25A13 ADK MMACHC MTHFR MAT1A CBS GUCY2D MTRR MMADHC GNMT PRDX1 AHCY NADK2 AASS TTC37 HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION SLC7A7 PNPO ASS1 OTC NAGS ASL ALDH4A1 PRODH COX5A TNFRSF11B MDH1 ARG1 NDUFB10 CPS1 TALDO1 SLC25A13 COX10 GLUL PDP1 HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION SLC7A7 ASS1 OTC TALDO1 ASL SLC25A13 GLUL NAGS HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION SLC7A7 PRODH COX5A TNFRSF11B NDUFB10 ALDH4A1 COX10 PDP1 HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION PNPO ASS1 ARG1 CPS1 ASL SLC25A13 HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION SLC7A7 MT-ND4 MT-ND6 PDHX COX6B1 MT-TW MT-TL1 MT-ATP6 LIPT2 MICOS13 FBP1 MT-ND1 COX5A PC MT-ND2 SLC25A13 MTO1 POLG TMEM70 COQ9 PDHA1 FBXL4 SCO1 TMEM126B MRPL3 MT-ND3 COX8A NDUFA13 PNPLA8 CA5A NAGS TRMT10C MT-TV RRM2B MT-TK NDUFB10 MIPEP MT-ND5 COX10 ATP5F1A PDP1 TYMP HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION PNPO FAH HPD TAT SLC25A13 HP_ZONULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZONULAR_CATARACT MIP KIAA1549 GJA3 SLC2A1 BEST1 SF3B1 NHS CRYBA4 HSF4 CRYBB3 MVK GNAQ OCRL BFSP1 LIM2 GNA11 GALK1 CRYGC SEC23A BAP1 MAF CRYBA1 CRYBB1 CFAP410 CHMP4B GJA8 VIM WFS1 NF2 CYSLTR2 OPA3 RECQL4 CRYBB2 FTL HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION ALPL SDHD CLIP2 TBCE UBR1 CDKN1A ADAMTS3 TBX1 SDHB TMEM127 MEN1 IFT122 RMRP PIGT DGCR6 FARSB RET CTNS KCNJ1 GNAS-AS1 CDKN1B CDC73 STX16 CDKN2C KL GNA11 BTNL2 COMT CASR CCND1 EPAS1 VHL GNAS UFD1 TCIRG1 CACNA1C CYP27B1 MLXIPL SLC30A10 PREPL TNFSF11 SLC39A8 FXYD2 SEC24C ACADVL CDKN2B CDKN1C SDHAF2 GTF2IRD1 APC2 FH GTF2I SLC5A1 PTH ESS2 OSTM1 RREB1 TNFRSF11A PPM1B CLDN10 CAV1 PDE4D RFC2 GDNF ALDOB HIRA CNNM2 CSF1R CACNA1S SEMA3E GCM2 NOTCH3 PCBD1 DGCR2 GATA3 SLC3A1 TBL2 DGCR8 CLCN7 EGF MAX FAM111A DNMT3A SLC12A1 BTK FOXP3 GABRA3 MDH2 SLC34A1 VDR GP1BB CYP3A4 CAMKMT ARVCF KCNJ10 ALG12 FGF23 CLCNKB CHD7 NSD1 FAT4 HADHB SLC4A1 ELN SDHC KIF1B PTH1R TRIO DLST PRKAR1A BAZ1B TRPM6 LIMK1 PIK3C2A SDHA SARS2 CCBE1 SETD2 SLC12A3 SLC25A11 HLA-DRB1 CYP2R1 SLC39A14 KCNJ18 PDGFRB NF1 CYP24A1 HADHA PLVAP SNX10 CLDN16 AP2S1 JMJD1C ORAI1 CLDN19 ATP1A1 HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION UNC93B1 GATM CYP11A1 HSD11B2 TRDN ATP6V0A4 SCNN1B CTNS DSG1 CACNA1C SCNN1A SCNN1G CPOX KCNQ1 STAR KCNJ1 SNTA1 SCN4A NR0B1 CYP17A1 CYP11B2 AIP KLHL3 ELP1 DZIP1L RYR1 CYP11B1 KCNE1 PRF1 LPIN1 FXYD2 NR3C1 OCRL SAMD9 USP8 CDH23 TBX19 TDP2 PIEZO1 CACNA1D KCNE2 MAGED2 SMAD4 CUL3 SLC5A1 KCNJ5 SCN4B PKHD1 CACNA1S CLDN10 TRAF3 CLCNKB AQP2 WNK1 TLR3 SLC30A9 BMPR1A CALM1 ABCB6 CLCN2 FGFR1 NUP214 KCNJ18 WNK4 LYST TICAM1 HSD3B2 SCN5A KCNE3 SLC4A1 SLC12A1 GABRA3 NOS1AP KCNJ10 SLC26A3 CAV3 TBK1 SLC34A1 KCNJ2 NDUFAF6 BSND TXNRD2 INSR CASR SLC2A1 AVPR2 SLC2A2 CA12 NR3C2 MRAP SARS2 SLC12A3 CALM3 HMBS NNT INVS KCNH2 PLVAP COL3A1 AKAP9 CALM2 CLCNKA NFKB2 EHHADH KCNN4 MC2R TP53 SCN10A ARNT2 ATP1A1 ANK2 PPOX HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION UNC93B1 LYST TICAM1 CYP11A1 HSD3B2 DSG1 SCNN1A CPOX STAR SLC26A3 CTNS CYP11B2 TBK1 NR0B1 BSND TXNRD2 ELP1 DZIP1L SCN4A CYP11B1 AVPR2 CA12 PRF1 NR3C2 MRAP OCRL SCNN1G SAMD9 SARS2 TBX19 HMBS TDP2 MAGED2 SLC5A1 NNT PKHD1 TRAF3 AQP2 PLVAP TLR3 CLCNKA NFKB2 SCNN1B MC2R ARNT2 FGFR1 NUP214 PPOX CLCNKB HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION ACAT1 HMGCL SLC37A4 SH2B1 SEC61A1 G6PC FBP1 TNFRSF11B GATM HNF1B MOCS1 HPRT1 SLC2A9 CTNS PPARG EIF2AK3 SLC34A1 NDUFAF6 GPHN PRPS1 LMAN1 SLC22A12 PNP REN SLC2A2 SARS2 MYC TNFRSF11A UMOD PFKM MCFD2 MUC1 MOCS2 HNF4A ALDOB ALMS1 CLDN16 MOCOS EHHADH XDH HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT WDR35 CLIP2 H19 WT1 CDH11 SOX4 HES7 TBC1D8B PCSK9 GNB1 CRB2 CTNS SF3B4 SHANK3 BRCA1 PEX12 HSD11B2 CFI CYP11B2 DIS3L2 KCNA1 PROKR2 RAD21 HNF4A PEX6 PREPL KANSL1 CEP55 IL17RD STAT4 SIK1 PIK3R2 ARL3 MT-TK SLC29A3 SIX1 IL23R MT-TE IFT172 DHCR7 NSDHL ASXL1 GSN KCNJ5 NRIP1 RNU4ATAC APC ABCC6 FIBP NFIA MT-TV GLI1 FOXF1 DCDC2 TMEM107 FGF10 PALB2 BRF1 EPG5 DHODH MAP11 GPC3 SEC61A1 PEX5 G6PC DEAF1 PEX26 PIK3CA RARA XRCC2 GP1BB HYMAI DSTYK LMX1B NELFA F10 SLC34A1 KCNE5 DYNC2I2 BICC1 SDHA AKT1 EYA1 LAMC2 SLC22A12 NPHP1 XYLT2 HAAO NUP93 SKIV2L NDUFA1 TMEM67 AVPR2 NEK8 ERCC8 ITGB3 DNASE1L3 HGD GRIA3 MBTPS2 NPHP4 HLA-DRB1 SCN1B PTPN11 NDUFS2 TRPS1 COL18A1 COG7 CYP24A1 NARS2 NADSYN1 LAGE3 TMEM70 CPT2 ENPP1 RAD51 DVL3 SMC3 STAT2 DPH1 TBC1D20 GLMN APOE PDGFRL NDUFAF1 CISD2 ITGB4 HSPG2 MVK MOCS1 YWHAE NABP1 RBM8A SCNN1A SEMA3A TTC37 CDC73 TMEM216 CFHR1 FANCD2 MKKS TSC2 MT-TF SLC9A3R1 B9D1 PDSS2 BUB3 EIF2AK3 FLCN GP1BA GLA ZFPM2 MUC1 SLC3A1 DLL1 TRIP13 RAB23 PEX2 B4GAT1 SLC36A2 DYNC2LI1 BRCA2 B3GLCT SLC34A3 EHMT1 NR0B1 BRAF PRKCSH LZTFL1 HBB LTBP4 RBM10 NSUN2 PKD1 ERAP1 SERPINA1 AKT3 XYLT1 COL7A1 TRIP11 NDUFB8 NSD1 CHN1 SCARB2 FLNB KMT2D STOX1 ARID1A GEMIN4 ZEB2 SDHB NOD2 NECTIN1 MEFV HLA-B FGFR2 FLNA TAF13 IFT80 MCFD2 WDR19 OCRL CIT ANTXR1 HNRNPK DCHS1 RPL5 IFT27 TBCK MAD2L2 ADA PTCH1 FBXW11 FRAS1 RERE TMCO1 SDR9C7 SLC12A3 RRM2B VPS33B SURF1 PGAP3 TMEM127 NR5A1 HOXA13 MKS1 PIGV ATP6V1B1 HNF1A FGF17 CD96 MAFB FAS CASR PIGN NDUFS6 STAT3 UFD1 B9D2 AMMECR1 SEC23B PTPRJ ACTG2 NUP107 FEZF1 PLCD1 TNXB TBC1D24 SDHAF2 GTF2IRD1 REN OPLAH POGZ PC COQ2 PYGM C1QC TPRKB ESCO2 DMP1 UBR1 TP53 ITGA3 POU6F2 PDE6D ZIC3 MT-TS2 SEMA3E XDH HPS1 DYRK1A PMM2 THBD PIK3CD CDKN1B CFHR5 MDM2 LRP2 VDR ZMIZ1 GATA1 ACVRL1 LRP4 SDHD TMEM126B FOXP1 NDUFAF6 INSR SSR4 POLE MLH3 BUB1 MT-ND6 SARS2 TFE3 FGFR3 DICER1 SETD2 PDX1 VHL UMOD SRC KYNU RARB GCM2 ALDOB IL12A-AS1 GRIP1 TBX3 JMJD1C NDUFV2 CRTAP NPHS1 IKZF1 UQCC2 SPRY2 RPL27 SAA1 SLC7A7 ETFA ZIC2 BCS1L ADAMTS3 FANCA MYOCD LAMB3 ITPR3 IFT43 HPRT1 RET F8 KRAS CDKN2C WAS SLC25A20 GREB1L DZIP1L RPL26 PEX10 NDUFS1 MMUT CD46 ATRX NDUFS8 ACTG1 ZNF687 SLC5A1 ANKLE2 NIPBL SON ARL6IP6 CCBE1 PIEZO2 PIGY RPS7 GDNF LRIG2 TFAP2A RAI1 CEP120 MTX2 COL4A6 NRAS NDUFB9 YAP1 ARX STS SLC4A1 NDUFS7 PAX1 CHD7 DACT1 GATA6 WDPCP CDKN1C COL4A5 FLI1 PLG NUMA1 HDAC4 ADA2 ISL1 TOR1A RPGRIP1L AFF4 KLLN PIGO SLC5A2 SMC1A FIP1L1 FANCL PRODH SALL1 STRA6 PAX2 EVC2 KIF14 TBX18 CDK5RAP2 RMND1 HNRNPU CA2 THOC6 MYLK ITGA6 KLHL7 DGKE STAMBP UMPS PHEX ATP7A CLDN19 STAT1 PIGW SALL4 PCK1 STRADA SPINT2 SMAD4 TP53RK SLX4 TMEM231 ABCG5 KCNJ1 STAT5B TSR2 KMT2A CPT1A CHST14 RPGRIP1 GDF6 BBS12 MFSD2A MT-ND1 MLXIPL FREM1 COPB2 AGGF1 B3GALT6 AGTR1 ALX4 LAMB2 PRCC PTPN22 MEG3 CACNA1D RPS19 SETBP1 USF3 PLCE1 RSPO2 MAGI2 BCOR MT-CO1 MT-ND2 FANCC EVC SLC17A5 AGT NPHP3 DMRT3 TSC1 TELO2 SRCAP ALG1 CLCN5 INSL3 CC2D2A FGF20 PAX6 RAG2 WNT4 LHX1 NUP85 SLC25A22 NDUFAF2 RIPK4 DYNC2H1 LMNB2 TBX1 CREBBP RMRP PHKG2 AGXT WASHC5 WDR4 RASGRP1 CEP290 NDUFAF3 IL12A UBE2A FCGR2B COL4A3 C4A SMARCAL1 ARL6 SOX9 PEX3 ALMS1 NDUFA6 COQ7 CLCNKA COQ8B CDKL5 FLT1 TRAF3IP2 STX3 FCGR2A C3 GBA PGK1 DPF2 PEX7 PYCR2 AIP FOXE1 VIPAS39 KLF11 LEMD3 CDC45 ASPM BNC2 COL14A1 C1QBP GPC4 IFNG MSH6 TRIM32 MT-CO3 COLEC10 PSMD12 NLRP3 GRHPR SRP54 PGM3 RIPPLY2 DMXL2 LONP1 SNAI2 KRT17 ERCC4 NUBPL ANOS1 BBS10 VAMP7 AHI1 SRY NSMF HSD17B4 KEAP1 TMEM260 MT-TW KAT6A SLC12A1 LMNA CDC42 OSGEP F2 PKHD1 FBN1 TCTN3 KMT2C RALGAPA1 JAK1 CTLA4 LRP5 PIK3C2A CD2AP PUF60 PBX1 CCN2 FH STXBP1 IGF2 NDNF UBE2T MCM5 CCNQ COL4A1 PLA2G2A PHF21A RAD54B EHHADH TCF4 BLK TRAF3IP1 PACS1 FANCB HSPA9 SLC37A4 WFS1 GLI3 HNF1B CPOX PPP1R15B ACSL4 KDM6A EXTL3 COG6 CCND1 FLII ARID1B NUP133 TGM1 CYB561 ABCC8 ELP1 VPS33A SLITRK6 SI KIF7 IL10 CAV1 RREB1 MOCS2 DNAJC21 CPLANE1 MEN1 RPL35 IL2RG RPL31 HIRA ZNF148 PEX1 SIX5 CDK4 SNRPN FANCI DSE ATN1 CAMKMT SLC2A9 CLCNKB SNAP29 BSND KCNJ11 USP9X MT-TN BAX POU3F4 GANAB CASP10 BBS7 MGME1 NF1 CYBC1 IQSEC2 MT-TH NDUFB3 INF2 OFD1 PTEN CLEC7A IL6 COL3A1 NTRK1 SCNN1B TP63 CCDC141 CHD4 YY1AP1 ATP1A1 MAP2K2 LIG4 TAPT1 CEP63 COL4A4 FGFR1 PIGT NXN PIGP PEX19 PRPS1 PAX4 BBS1 BRIP1 NADK2 CILK1 JAG1 FGA LIPN CD151 WAC MYO1E FBXL4 BBS4 EXT2 F5 GPR35 GDF2 DYNC2I1 LARGE1 DNMT3A IL17RA LMBRD1 FOXP3 TMEM237 NEK1 ARHGDIA CHRNA3 SREBF1 FAT4 RPS26 SLC2A2 PLEC ELN INS CSPP1 TDGF1 MYD88 IRF5 DUSP6 HMBS SPRY4 STK11 FOXH1 PDGFRB RFWD3 TWIST2 CAD RTTN ALG8 KCTD1 PHYH PORCN RPS27 EP300 REST MT-CO2 ARNT2 WWOX SLC26A4 HIC1 LCAT NDUFS4 CDKN1A WNT5A IFT122 PRMT7 SCNN1G KCNH1 MAP3K7 APRT NDUFV1 FAM20A ATP7B SIX3 BTNL2 CCDC22 NOTCH2 MMACHC ACP5 PIGQ MRPS22 GATA3 FAM20C HDAC8 ALOX12B DISP1 TBX15 PLD1 SPART AVIL FANCM PPM1B LMOD1 ITGA8 KIAA0586 HPSE2 C8orf37 NODAL TBL1XR1 PHKA2 BPTF CYP4F22 TBL2 MT-ND5 ALG9 CFH GAS1 HESX1 TXNL4A MYOD1 UBAC2 RAD51C FN1 MASP1 FGF8 TREX1 KIF1B VAC14 RAB3GAP2 LIMK1 EDNRA SHPK EDNRB SLC25A11 MT-TL1 POMT1 CORIN SMS SPECC1L PAX7 WDR73 ROBO2 IRAK1 ITGA2 RPS15A BLM YY1 EFEMP2 ANLN SLC1A1 WRN CCND2 SHH C1QB DCC TTC21B RECQL4 MEOX1 NCAPG2 PGAP2 WIPF1 PIGA FOXI1 COMT GPKOW HMGA2 FUT8 MINPP1 ANKS6 CCR1 RPL11 ACE MAPKBP1 MED25 GNA11 PRKAR1A GLIS3 ABCG8 TCTN2 MET PIGL PDHA1 PEX13 SMARCD1 CEL FAN1 PQBP1 WDR11 BBS9 RPS10 ACTB TMEM138 PRTN3 AQP2 MAP2K1 PAFAH1B1 IQCB1 NOTCH3 CENPJ DLL3 MCC RAB3GAP1 WNT3 GATM KCNQ1OT1 BMPER HLA-DPA1 ADGRG2 XPNPEP3 DVL1 RPS28 FOXC2 LDLR SDHC ZNF423 DLST PPP2R1A BMP4 HABP2 CLPB GLIS2 PGAM2 TRNT1 STAG1 SPOP SC5D SMARCC2 PLVAP SDCCAG8 CWC27 TTC8 KNSTRN PTPN12 CLDN16 FGF23 MAP3K1 COA8 KISS1R APOA1 NDUFA11 PEX11B SBDS ATP6V0A4 IL7R ERCC6 DNAJB11 COX14 TTR EMP2 TIMMDC1 GCDH EPAS1 MAPK1 AMER1 GNAS TRIM28 OCLN INTU FAM149B1 ETFB DLK1 DHDDS NAA10 POMT2 TRRAP RPL15 RFC2 ADAMTSL1 COQ6 HRAS LPIN2 SOX18 KNL1 USP8 LIPT2 SASS6 KIAA0753 KITLG SMARCE1 FREM2 CACNA1S MCTP2 PTH1R KCNJ10 BAP1 MT-ATP6 FANCE CCR6 NDUFS3 NEUROD2 ADAMTS13 NEUROD1 MYH11 SOX17 CTU2 MAX HS6ST1 MT-CYB HELLPAR CFHR3 WDR62 GALNT3 INTS1 DLL4 ZNF592 DDX59 CTNNB1 ACTN4 LDLRAP1 TRIM8 FXYD2 SOX11 STIL MYMK RTL1 EBP SLC6A19 METTL5 CCDC28B MT-TQ RPL35A NKX2-1 PRDM16 PEX16 CEP57 CD81 ADAT3 NPHS2 CENPF FANCF SUFU NDUFAF4 MDH2 ARVCF SOX10 SERPINH1 LMAN1 CASK PPP2R3C BAZ1B KLRC4 ZMPSTE24 KCNQ1 ERBB3 PROK2 LFNG TLR2 MSH3 MOCOS FKRP DNASE1 DKC1 PAH IRF2BP2 ADCY10 ZAP70 IFIH1 BUB1B ARID2 SLC6A17 IFT140 CEP152 B2M SEC24C MME MLH1 NEU1 GTF2I DLC1 CEP164 PML FBLN5 ENG NDUFB10 CLDN10 PRKCD RYR1 TRIM37 AURKA INPP5E KANK2 POR ZFP57 GATA4 PCK2 RBBP8 MNX1 SDHAF1 MT-ND3 APPL1 RAB18 FAH CYP27A1 MCPH1 GCK AIRE MICOS13 MSH2 INVS IARS1 CEP83 DNA2 PKD2 BBIP1 FUZ PEX14 ALOXE3 NBN CDKN2A LETM1 FOXRED1 ALDH18A1 PHC1 RAG1 MTRR MESP2 GBE1 CHRM3 ETFDH PKDCC CDKN2B MAGED2 SCN2A OSTM1 CFTR DHX37 COLEC11 KCNAB2 POLR3A ITGA2B SMO AR MYCN GNAO1 CD109 MYO5B RPS24 SLC35A2 KAT6B RNF139 IL17F SLC7A9 PUS3 CDON TACR3 TRPC6 RPL18 GABRD MMP1 COG1 LAMA3 PLAGL1 MT-ND4 RAF1 AAGAB CTH SMARCB1 PPOX NPM1 MARS1 LYZ AXIN2 ZBTB16 SULT2B1 SPP1 TALDO1 SPINK5 BSCL2 NUP205 SGPL1 LPIN1 HYLS1 PTPRO GP9 NSD2 SERPINF2 SLC30A9 OGG1 PNKP TGIF1 NUP160 SNRPB JAM3 GLI2 SETD5 NIPAL4 HMOX1 MT-TT SMARCA4 CFB TCN2 AXIN1 SKI NDUFAF5 MITF PHGDH NDUFB11 ROR2 SMOC1 MYH9 DHCR24 TBX22 HOGA1 PRDX1 CEP135 FASLG LDHA ALPL VANGL1 MST1 FKTN SH2B1 PYGL NCAPD3 GDF3 RASA1 PPP3CA C1QA RPS17 DDX6 TKT COPA FIG4 CDK6 APC2 IL17RC BBS5 SLC4A4 PNPLA6 APOB APOL1 EXT1 TLR4 ARMC5 XRCC4 HOXD13 CDH23 G6PC3 CHEK2 RPS29 AGPAT2 SEC63 FLRT3 TASP1 DHX16 CEP41 SLC26A1 HLA-DPB1 NDUFAF8 FANCG SLC6A20 ABCA12 AP2S1 EBF3 RORA BBS2 SCO2 DCLRE1C HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT WDR35 KDM1A CLIP2 WT1 UBR1 CYP11A1 PUF60 CDH11 HES7 SCN9A ACER3 EVC ATRX PRMT7 DMD MAP3K7 SHANK3 KIF5A SLC9A6 BRCA1 GDI1 VCP FAM20A RTEL1 CCDC22 RTN2 MAPT RAD21 PSPH PEX6 ARCN1 KANSL1 CEP55 DNMT1 LIG4 PAX6 SLC25A10 HDAC8 ARSA GLI3 RAC1 SIX1 HPRT1 ARHGEF6 SP110 ATXN2 SBF1 GBA2 PLD1 SPART KIFBP NSD2 HTRA1 DHCR7 ASXL1 FANCM B4GALNT1 ADA2 THOC6 ADH1C LMOD1 NRIP1 MYF6 KIAA0586 HPSE2 HPDL KIF7 EP300 NFIA GLI1 GATA3 BPTF GABRA1 TMEM107 FGF10 TBL2 FXN MAP11 GPC3 PEX5 PEX26 GABRA3 XRCC2 GP1BB UPF3B TIMM50 CCNQ SETD5 NELFA SALL4 FLNA DYNC2I2 IQSEC2 MKS1 SDHA EYA1 CARS1 LAMC2 SYNE1 FLT4 HAAO FITM2 AVPR2 POLG2 VAC14 BICC1 MAP3K1 NBN LIMK1 TP63 AKT1 PEX3 CCDC8 PTPN11 MTFMT TRPS1 COL18A1 COG7 NOTCH3 SLC44A1 SMS SPECC1L PITX2 ROBO2 TMEM70 GBE1 PAX2 RPS15A RAD51 DVL3 SMC3 EFEMP2 DKC1 MARS2 DPH1 MAMLD1 CISD2 AIP ITGB4 TYROBP NCAPG2 NR4A2 SIN3A SIX6 TTC37 PIGA CARMIL2 FANCD2 COMT RLIM MKKS WNT7A RPL11 MECP2 ATP13A2 RPS19 FDFT1 MED25 AUH RPL10 PEX11B TCTN2 SYNGAP1 ZFPM2 ABCD1 PQBP1 PEX10 RPS10 CNKSR2 IGHMBP2 AQP2 FLVCR1 DYNC2LI1 MBTPS2 GRIP1 B3GLCT CACNA1S EHMT1 NR0B1 BRAF EFNB1 ALDH18A1 CENPJ DLL3 ATXN8OS LTBP4 NSUN2 HMBS BNC2 NF2 COL7A1 HACE1 NDUFB11 OBSL1 ATXN3 ATP7A NSD1 FA2H RPS28 FRMPD4 GJA1 FANCC KMT2D COG5 HLA-B BMP4 PRKAR1A ZEB2 ELN FGFR2 GATA4 TAF13 IFT80 NOP10 CUL7 HNRNPK EPG5 DCHS1 RPL5 IGF2 HCCS MAD2L2 FTSJ1 HCFC1 PPP1R12A FRAS1 MORC2 RERE SLC12A3 HLA-DQB1 POLA1 STK11 ERCC6 NR5A1 PTDSS1 HOXA13 MTMR14 VPS35 PIGN UFD1 B9D2 FOXF1 SLX4 ACTG2 GLUD2 GABRG2 SRCAP FUS KDM3B FOXC1 TNXB AR SOX9 KCND3 ACTA1 GTF2IRD1 RPL35A NAA10 SMCHD1 PDE4D ESCO2 TRRAP RPL15 RFC2 PALB2 DARS2 SNCA CYP21A2 TGFB1 ZIC3 PDCD1 TUBB B9D1 ORC4 DYRK1A ATR ORC6 KNL1 HSD3B2 PINK1 ERLIN2 SASS6 WASHC5 ZMIZ1 PDGFB GATA1 FREM2 SOX2 USP9X AP5Z1 POLE MCTP2 KCNJ10 SMAD3 SETD2 EIF4G1 UMOD FANCE NOTCH2NLC SMAD4 RARB MYH11 FGFR3 SOX17 CEP290 JMJD1C CDCA7 IKZF1 SMO RPL27 WDR62 EIF2AK2 MYOCD LAMB3 LSS ZNF81 SDHD HSD17B10 MAB21L2 HLA-DRB1 TMEM231 CYP17A1 DNAJC19 BCOR ALS2 OGT REEP1 USB1 PIGQ CC2D2A STIL MYMK SUFU KRAS AGXT METTL5 PLP1 ANKLE2 ZC4H2 NIPBL CACNA1G ARL6IP6 POR CCBE1 PIEZO2 NKX2-1 PRDM16 GJC2 SPAST RPS7 LRIG2 TFAP2A PEX16 CLCN4 ADAT3 FANCF SLC2A1 ALG13 CIT TINF2 HMGA2 TBCD COX7B ARX TBP ATXN10 PTCHD1 CHD7 ARVCF DACT1 WDPCP CDKN1C GALC PSAP HSPD1 ISL1 RPGRIP1L AFF4 SLC16A2 ZFYVE26 PIK3R5 GREB1L CSPP1 FBLN5 SLC5A2 BAZ1B CDC45 ZMPSTE24 FANCL CAPN1 KCNQ1 KCNQ1OT1 WFS1 SALL1 VANGL2 HS6ST2 STRA6 EVC2 CDK5RAP2 HNRNPU KIF1A ORC1 MYLK LFNG ITGA6 FKBP14 RIN2 STAMBP PAH GATAD2B FARS2 SLC25A4 ABL1 STAT1 NEXMIF TBX1 SMARCE1 PDGFRB WNT5A LMNA FANCI TSR2 ATL1 CEP152 RPGRIP1 MFSD2A MLXIPL CYP11B1 COPB2 APRT CPLX1 SPG7 PEX2 SEC24C UPB1 DLG3 GTF2I SETBP1 COL1A2 HBA2 RETREG1 SLC25A13 TBX22 SEMA3E SACS COQ2 SLC20A2 SMARCB1 DMRT3 TRPV4 WNT4 PEX13 SMC1A CDC6 DYNC2H1 RBBP8 MNX1 SDHAF1 CREBBP COL3A1 TRIO C2CD3 GABRB3 MCPH1 KCNJ18 SIGMAR1 CDT1 UBE2A CTC1 BIN1 NOTCH2 COL5A1 FZD2 LRRK2 NPHP3 FUZ GBA PEX14 PRDM8 CHRNG TRAF7 PCNT TMEM216 STUB1 TERC PAK3 LETM1 TMEM94 PYCR2 WNT3 PHC1 POLR3A VANGL1 TBXT MESP2 TTC8 ASPM GPC4 CHRM3 SSR4 TWNK CCL2 ERMARD COLEC10 PSMD12 AGTR2 ATP6AP2 TTR DHX37 COLEC11 KCNAB2 RIPPLY2 HBA1 DSTYK IFT57 ERCC4 FMR1 HNRNPA1 MYCN VAMP7 SRY FGFR1 PRNP NPM1 ZNF41 CFAP43 CDC42 ERCC8 RPS24 ALG12 KLHL40 CPT1C SLC9A7 KMT2C RALGAPA1 RPL18 CXorf56 MTOR GABRD MMP1 PBX1 NEB COG1 LAMA3 UBE2T RAC2 RAF1 SNCAIP SDHB CLMP TERT SETX FANCB SPOP PPOX RSPO1 MTM1 SPG11 HSPA9 SQSTM1 HNF1B ALMS1 KDM6A NIPA1 COL5A2 CCND1 HSD17B3 DNAJC13 ARID1B MAPRE2 REEP2 MID1 DBH CYB5A STAT6 HEXB HYLS1 RPS6KA3 COL1A1 RREB1 RPL35 RYR1 TBCK RPL31 HIRA BAP1 PEX1 SIX5 UBAP1 KDM5B JRK DSE GPR101 LMNB1 MED12 RPL26 CLCNKB DKK1 FBXO7 BDNF MED12L RAD51C TMEM63A LMOD3 FAT4 SKI C19orf12 DNM2 DVL1 VPS11 ACSL4 WRAP53 CHST14 NHP2 KLHL41 HOGA1 CHD4 STAR CEP135 GMNN SH2B1 TAPT1 CEP63 PEX12 NCAPD3 MYRF RASA1 CYP7B1 UBA1 PPP3CA ATPAF2 PEX19 RPS17 KCNC3 RRM2B CUL4B SYP BRIP1 PANK2 DDHD2 RECQL4 CILK1 JAG1 DDX6 MID2 CACNA1H KIF14 SAMD9 BUB1B PIGO FIG4 CDK6 APC2 ZNF711 SLC1A4 SRD5A2 FBXL4 KMT2A PARN ELOVL1 PNPLA6 FERMT1 DYNC2I1 POLG EXT1 GALNT2 HUWE1 RNF168 CTBP1 TSPAN7 RAB39B BRCA2 HOXD13 ATXN1 FGFRL1 CHRNA3 RPS26 TMEM67 PLEC ADNP USP27X RPS29 PLOD1 HNRNPA2B1 GIGYF2 PLAG1 RFWD3 CHMP2B FANCG FOXP1 RTTN NAB2 FANCA DYSF IL1RAPL1 WWOX RPS27 PIK3CA EBF3 TRAPPC12 HNF4A ARNT2 NR2F2 HP_ABNORMALITY_OF_THE_NASAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SKELETON USH1G PDE4D SIX3 PPP1R12A SLC25A24 BRAF CTNNB1 TGIF1 PRKAR1A PTCH1 HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE RHO KDM1A KDM6A NODAL NFIX UBR1 UNC80 PUF60 GJA5 CDH11 SOX4 HES7 PAK3 NALCN ARMC9 ADGRG6 AP4M1 WNT5A ATRX IFT122 PRMT7 RMRP QRICH1 SUZ12 DMD MAP3K7 SHANK3 ABCC9 GDI1 MGP SIX3 SPATA5 DISP1 CEP152 KCNA1 DPYD XPC DDB2 GPC6 B9D1 KDF1 KANSL1 CREBBP PIGQ CEP55 SAG POGZ TRPS1 FGFR2 SIK1 GJA8 HDAC8 IFT140 ARL3 RAC1 ARHGEF6 RIC1 ARID1A CENPJ KCTD1 NSD2 DHCR7 PIK3R1 THOC6 KATNIP NSUN2 KCNJ8 SEC23A C8orf37 ERF COL1A1 ALG3 EP300 NFIA OFD1 ALDH18A1 KCNH1 RP1 TMEM107 PDE4D BRF1 EPG5 LHX4 DGCR8 RBMX BRCC3 AHI1 PROP1 GPC3 DEAF1 CHRNA1 ZMPSTE24 CLCF1 GP1BB UPF3B GAS1 ADNP LMX1B CCNQ SETD5 ABCC8 TXNL4A MUSK RUSC2 TMEM237 KCNE5 IQSEC2 PYCR2 MKS1 COG4 ACTB VAC14 SATB2 OBSL1 NBN RAB3GAP2 SIM1 PTCH1 DLL1 ZNF513 HRAS GPAA1 MSL3 SCN1B CCDC8 PCARE SMARCA2 PTPN11 FTO CKAP2L ADAMTS18 GLI2 PLK4 DHX37 COL11A2 EXT2 GMNN SMS PAX7 CENPE HPDL DNMT3B YY1 DVL3 SMC3 PYCR1 WRN TBC1D20 KIFBP PAX3 SHH CENPT NOVA2 MN1 RECQL4 YWHAE ADSL NEK2 PGAP2 GLUL TTC37 PIGA TMEM216 COMT IFT88 DLX4 MADD MARS2 MECP2 TONSL TUBGCP6 ASPH MED25 POLD1 RGR TCTN1 NAA10 IMPDH1 CRKL BUB3 TCTN2 IFT172 FLCN HDAC6 TDGF1 WDR19 HECW2 ALX4 PEX13 SMARCD1 PQBP1 AP4S1 RPL10 TWIST2 TMEM67 FGFR3 CNKSR2 MAP2K1 ATP6V1B2 DONSON MBTPS2 TRAIP GRIP1 TP63 C12orf57 PAFAH1B1 B3GLCT PPP1CB AP4B1 GBA AIFM1 SRD5A3 PEPD EFNB1 AKT1 DLL3 HESX1 ZSWIM6 RBM10 CANT1 RAB3GAP1 PLEC FGF8 USH2A CEP120 PHF8 SLC25A24 AGBL5 RDH11 DOCK3 TAF1 KCNJ2 ARHGEF18 RNASEH2A DVL1 FRMPD4 TBX1 GJA1 CHN1 FLNB KMT2D DDX3X ATP6V1E1 METTL5 DLK1 PIBF1 PPP2R1A PRKAR1A ZEB2 KAT6B SPOP SPRTN FGFR1 ZIC2 CIT SC5D ANTXR1 CUL7 HNRNPK SMARCC2 WAC TBCK RBP3 CA4 ATP6V0A2 ERCC4 CWC27 TBL1XR1 FTSJ1 KNSTRN EDA LMNA HCFC1 COL1A2 MEIS2 ASXL2 FRAS1 RERE RTL1 FLNA PGAP3 SLC7A14 MED12 KRAS SNRNP200 TOPORS DGCR6 LTBP3 SUMF1 DOCK7 PIGV SIX2 CD96 APC USP9X SEMA4A PIGN UFD1 PIGL IDH3A AMMECR1 XYLT1 MAPK1 SMC1A SRCAP DIS3L2 ANKRD11 KDM3B PEX5 TBC1D24 BBS2 NUP188 ZNF462 ALG13 OCLN FAM149B1 ESS2 AP4E1 ESCO2 PDE6A TRRAP PDE6D LIG4 SLC25A46 GATAD2B RPS6KA3 STAT5B ERCC2 KLHL7 BCR ADAR KIF1A ATR KCNJ6 PIK3CD LRAT MRAS KIAA0753 LRP2 TMEM138 ALG9 ZMIZ1 PTPRF SMARCE1 MEF2C FREM2 LRP4 FOXP1 CNOT3 GHR RET CNOT1 INSR PEX1 MCTP2 IDUA EHMT1 CEP41 RUNX2 CHRNG FGF3 FBN1 NEUROD2 PURA KCNN3 CPLANE1 IGF1R BRCA1 KCNK9 CEP290 JMJD1C STAG2 AHR FOXH1 TLK2 MAK PHIP PPP2CA FMR1 PEX14 INTS1 CNOT2 ERCC3 CRLF1 ABCA12 ZNF81 TWIST1 SIN3A TMEM231 ALX1 LMBR1 EXTL3 SLC2A10 TRIP11 GREB1L DZIP1L TRIM8 NR2F1 PORCN ERCC5 CC2D2A SOX11 MYMK DHX38 ARID2 EBP ACTG1 SLC26A2 ACTL6B TREX1 POU1F1 CHRNA7 SOST CDK10 ZC4H2 NIPBL CDON RLBP1 CNGA1 PEX3 NR2E3 PRDM16 PIGY SOX5 IL2RA LONP1 TFAP2A RAI1 CEP57 KIF11 MTX2 CLCN4 ADAT3 CENPF SUFU PRKACB REEP6 PCGF2 MYH3 PEX16 TAF6 GNPAT MED13L NPHP1 ZNF423 NF1 COL11A1 ALDH6A1 GLI3 EDAR IDH3B PTCHD1 PAX1 ODC1 ARVCF IER3IP1 IFT52 MESD WDPCP BEST1 RNU4ATAC FLI1 PRPF31 HDAC4 TOR1A CASK CPT2 SYT1 RPGRIP1L AFF4 MERTK ADAMTS3 PPP2R3C PIGO GLB1 EDA2R ARX ROM1 NGLY1 MYCN SH3PXD2B PRPF8 TRIO TGIF1 ZBTB24 FRMD4A TFAP2B LFNG CSNK2A1 PAH MYO18B PSAT1 DHDDS KLHL15 ATP7A RBM8A RNASEH2B PIGW RAC3 BUB1B SMPD4 NEXMIF SCYL2 KIAA1109 EYS SLX4 PRPS1 BCOR TRMT10A SAMHD1 SKI RP2 RPGRIP1 RPGR HNRNPH2 BPTF NRAS PRPF4 CHRND PDE6B ZNHIT3 MLXIPL SLC35C1 FREM1 MBD5 B3GALT6 CPLX1 RBBP8 KIF14 SEC24C NRL MEG3 ITGA8 ATP6V1A RPS19 SETBP1 PTEN RIPK4 SLC17A5 NACC1 AGA ARL2BP MIR140 BMPER AUTS2 IGF1 FGF20 SOX10 DDR2 POMGNT1 CLRN1 INPP5E SLC25A22 NXN DYNC1I2 PPP1R15B EYA1 COL3A1 WDR26 SHOC2 DHCR24 PEX19 C2CD3 RAB18 XRCC4 HSPG2 BRAF CCDC47 UBE2A NFIB SNIP1 RP9 ADAMTSL2 SMARCAL1 ATIC RNASEH2C NOTCH2 DNA2 FZD2 FSCN2 CERT1 CAMTA1 CRIPT CEP104 CDKL5 MAB21L1 IFIH1 PEX2 SMARCA4 ARL6 EIF2S3 KIAA1549 GNPTAB DPF2 CSPP1 PMM2 CERKL DNMT3A TMEM94 ASXL3 LETM1 POLR3A SETD1A PEX11B MESP2 SMG9 WDR73 KPTN GPC4 MPLKIP AGTR2 HOXB1 ABCA5 NFKBIA SCN2A CTCF TTC8 COLEC11 KCNAB2 SNX14 RIPPLY2 DMXL2 STXBP1 DGCR2 GNAO1 EXOSC2 MAN2B1 ZNF41 KAT6A FGD1 CDC42 DYRK1A TSPEAR RPE65 SOX9 SLC9A7 KCNJ11 RALGAPA1 CDHR1 TBC1D23 CXorf56 PEX6 PIK3C2A GABRD FOXA2 PBX1 ZNF408 CTNNB1 TRIP13 HGSNAT COG1 ORC4 PHF21A PDHA1 PARS2 PIGT TCTN3 LRPPRC RAD21 INPPL1 ABCA4 SMARCB1 PEX12 CSGALNACT1 PACS1 RNF135 KMT2B HSPA9 TCF4 FOXG1 MGAT2 ACSL4 TMEM70 ATRIP DOCK6 FLII ARID1B CNGB1 ASXL1 KIF15 MID1 MAPK8IP3 NOG WDR35 BUB1 EXT1 KIF7 PIEZO2 MEGF8 PLCB3 TBX6 SCAPER RREB1 PKHD1 TBCE NHEJ1 KIZ RP1L1 HIRA ZNF148 VPS51 DLG3 PNKP PHGDH EDN3 KDM5B SNRPN MAFB ATN1 CRX PRKACA PEX10 TCF20 CLP1 SNAP29 MED12L ARL13B MMP2 PROM1 TUBGCP2 XPA BMP2 SMOC1 PPM1D GAD1 PTH1R CDK19 TBX2 IMPG2 AIMP2 ROR2 PLOD3 AGL IRX5 KIF22 ECEL1 COG6 HYLS1 MAP2K2 VPS13B PDE6G CRB1 ITCH TAPT1 SCARF2 SPATA7 PRPF3 EDNRB PRCD FOXC1 PIGP RDH12 CUL4B PCNT VPS35L CCNK SYP RNF125 CILK1 EFEMP2 COL2A1 MID2 SLC29A3 TULP1 IFT43 PEX26 EFTUD2 LAS1L FIG4 MVK ZNF711 SLC6A9 B9D2 FBXL4 MITF KMT2A PAM16 ACTG2 KIAA0586 SALL4 BANF1 WDR4 CLIC2 PRPH2 GNS ATAD3A FH HUWE1 EDARADD GUCA1B TRAF6 CTBP1 TSPAN7 RAB39B MPDZ TUB RHOA FGFRL1 FAM161A TUBGCP4 ELN USP27X PRPF6 ALX3 TBX4 SOX3 RARB PTF1A HK1 IL1RAPL1 OTX2 EBF3 FAM20C HIC1 UBE3B ECE1 HP_ABNORMALITY_OF_THE_NASAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_BONE USH1G PDE4D PPP1R12A SLC25A24 BRAF CTNNB1 PRKAR1A HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE USH1G PDE4D PPP1R12A SLC25A24 PRKAR1A HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY WDR35 PEX11B PIGW UBR1 WFS1 SOX4 GNB1 PGAP3 HPSE2 ERCC6 WNT5A ARID2 FGFR1 KDM6A SLC6A17 SPINK5 FLNA USP9X PIGN CHST14 CCDC22 PIGL ARID1B FOXF1 PEX6 KANSL1 ACTG2 LIG4 PEX2 FAM20C ARL3 TBC1D24 MEG3 TBX15 HYLS1 PLD1 DLK1 SPART DHCR7 SETBP1 NSDHL LRIG2 NAA10 NRIP1 TRRAP MYCN EP300 SEMA3E ZIC3 NFIA PEX1 GATA3 TBX1 XDH GPC3 DYRK1A B3GLCT SIX5 BRF1 SRCAP TFAP2A PEX5 PEX26 GPC4 DSE WASHC5 ATN1 PEX13 SMARCE1 CHD7 DYNC2H1 SMARCA4 MYOD1 SALL4 DYNC2I2 CREBBP RAD51C EYA1 LAMC2 MASP1 NF1 NDUFAF3 SKI POLE PIGV RAB18 RAB3GAP2 RNU4ATAC SETD2 GRIA3 ATRX MBTPS2 BRAF COG7 SHH ROR2 IARS1 PAX7 SOX17 CTNNB1 SOX9 PEX3 KIAA0753 YY1 CRTAP MAP2K2 PEX14 SIX1 TBC1D20 TAPT1 BCOR NBN PEX12 TP63 ITGB4 DPF2 LAMB3 NCAPG2 PGAP2 KRAS PPP3CA NXN MED25 MKKS HNRNPK PEX19 BNC2 OFD1 PORCN CHRM3 RECQL4 DDX6 SHANK3 SOX11 MYMK RTL1 RBM10 EBP ACTG1 APC2 ZEB2 SMARCD1 PEX10 CCBE1 RAB23 ACTB B4GAT1 PIEZO2 PRTN3 KCNAB2 PRDM16 PIGY MAP2K1 POLR3A PEX16 CENPF DYNC2I1 FGFR2 LTBP4 NSUN2 RAB3GAP1 KAT6A GLI3 CDC42 ERCC8 HOXD13 HLA-DPA1 KAT6B NSD1 CHRNA3 CDKN1C G6PC3 FLI1 DVL1 PLEC MAP3K7 KMT2D CPT2 APC ARID1A CTLA4 GEMIN4 GREB1L PIGO GABRD TASP1 IFT80 STRA6 COG1 ERBB3 LAMA3 HLA-DPB1 PTPN22 SMARCC2 TBX18 TBCK KCTD1 ITGA6 SMARCB1 RORA ARNT2 RERE ATP7A FANCB HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM HSPG2 WASHC5 PIGW PIGL TAPT1 PACS1 PGAP3 SCARF2 UQCRFS1 NRAS GATA6 MKS1 PGAP2 FANCB HOXD13 POR PIGY WNT3 CCDC22 FOXF1 MCTP2 PIGV PIGO DDX6 HP_DILATATION_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_BLADDER NKX2-1 MYH11 AQP2 MYLK TP63 FOXF1 ACTG2 MYOCD LMNB1 AVPR2 LMOD1 HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE APC2 CHRM3 NSD1 SRCAP BNC2 IGF2 SETD2 HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION PEX6 PEX12 PEX1 PEX10 PEX5 PEX19 ABCD1 PEX3 PEX16 PEX13 CPT2 PEX26 PEX7 PHYH PEX2 PEX14 PEX11B HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION ACAD9 HMGCL MMP1 LMBRD1 ACADM GATM COL7A1 CPT2 NADK2 SLC22A5 TANGO2 ACAD8 SCO1 TRMU SLC34A1 ACADS NDUFAF6 DLD SLC25A20 MT-TE MMACHC ACADVL HADH EHHADH CTNS SLC52A1 HP_ANEMIA_OF_INADEQUATE_PRODUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIA_OF_INADEQUATE_PRODUCTION LCAT STK11 DNM1L WFS1 APC UMPS SMAD4 BRCA1 LARS1 TSR2 HBB RPS17 MMACHC SBDS TET2 SLX4 SLC19A2 SLC35C1 TKFC AGGF1 FARSA FANCB SLC25A10 ATRX SLC29A3 RPL15 PSMB8 PIEZO1 SMPD1 SRD5A3 HK1 CD55 RPL35A RPS19 UBA1 TGFB1 HBD FANCM ADA2 ENG HBA2 DHFR COX4I2 RPS14 ABCD3 MTR RPL35 PALB2 RPL31 RPS26 CDAN1 ABCB7 FDX2 SFXN4 LPIN2 ALAS2 ALDOA SLC4A1 FANCI XRCC2 HBG1 GATA1 RPL26 ACVRL1 CLCNKB HBA1 DAXX RAD51C RPL5 CASP10 SRP54 KCNQ1 FASLG SHPK EFL1 FANCE UQCRFS1 SF3B1 RIPK1 LARS2 RPS7 TMPRSS6 IRX5 RPS28 RPS15A RAD51 PRDX1 COX10 RPL27 MTHFD1 SLC46A1 SEC23B BPGM CBLIF ELMO2 WIPF1 FANCD2 WAS RPS24 DNAJC19 RMRP MTRR RPL11 PLA2G4A BRIP1 HPRT1 PSTPIP1 PIGA MVK CAT CLPX SAMD9L PUS1 LMBRD1 TREX1 HYOU1 PHGDH DNAJC21 AMN RPS10 TF YARS2 ERCC4 TCN2 HSPA9 TPI1 GDF2 FANCF CDIN1 CUBN PNPO KLF1 GALNT2 FAS FOXP3 MMADHC COL7A1 ISCU FTCD BRCA2 FGF23 FANCC TOR1A RPS29 RPL18 OPA1 SLC25A21 MYD88 KCNE1 TRNT1 SLC12A3 MMP1 TEK FANCL IREB2 UBE2T RFWD3 RAC2 FANCG FANCA MAD2L2 FECH RPS27 KCNN4 CP HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY LYST ZAP70 STAT1 GFI1 DDX41 DMD FANCE CXCR4 PSEN2 RMRP STAT5B FANCI TSR2 RAG2 TCF3 BTNL2 RPS17 RTEL1 MMACHC HAND2 ACP5 GPI SLC35C1 ICOS RAF1 RPL18 PDGFRB RAB27A ZBTB24 LIG4 NPC2 PRF1 TFRC ATRX SLC29A3 OTULIN CD3D SMPD1 CYP26C1 RPS19 PML ADA2 JAGN1 HAX1 BCOR DOLK PRKCD FANCC XIAP SLC35A1 SMARCD2 FIBP RPS14 CAP2 STAT3 TBL1XR1 MYH7 AGA FDX2 CHD7 SLC7A7 MECOM IL7R TXNRD2 IRAK4 NCF2 SEC61A1 STXBP2 IGHM GSS RARA GATAD1 APOE COG4 MYBPC3 TNNI3 KIT ADA MYPN ABL1 GLB1 FHL2 FASLG LRRC8A CLPB NLRP1 MPLKIP KRAS RASGRP1 HLA-DRB1 ASXL1 UBE2A CAPN3 SMARCAL1 CTC1 FMO3 RPS7 DCLRE1C RAG1 RPS28 GATA1 RPS15A DSG2 TET2 ANKRD1 DKC1 CIITA RECQL4 RFXAP VPS45 SLC46A1 MVK SPINK5 CARD11 TERC NABP1 PMM2 WIPF1 EIF2AK3 RFXANK BAG3 FUT8 MTRR USB1 DOCK8 RPL11 TTN TAF1A BLNK PRKAR1A IL6ST ELANE VCL TMPO SRP54 IL36RN OSTM1 PGM3 TRAF3 RPS10 PRTN3 TERT TLR3 ERCC2 TAZ MYH9 CSF3R PLN GTF2H5 NSUN2 TICAM1 NPM1 MMAA NCF1 WAS TCAP BTK FAS IL1RN HTRA2 LIPA RPS24 FTCD HLA-DPA1 CYBB CD27 RAC2 JAK1 IGLL1 CD40LG CTLA4 RUNX1 HLA-B TNNT2 CD40 ACTC1 CD247 TRAC TPM1 NOP10 PTPN22 RPL5 CSRP3 CD79A NCF4 FOXP3 FANCG UNC93B1 SLC37A4 BCR SBDS STK4 SLC27A4 RNF113A ZBTB16 LAMTOR2 TONSL LDB3 EXTL3 ZNF341 CARD9 PIK3R1 ACTN2 AP3D1 PDGFRA CEBPE ITCH GTF2E2 TDP2 VPS13B DNMT3B IKBKG DNAJC21 SRSF2 CD79B RPL35 RPL15 SDHA BACH2 IL2RG RPL31 HAVCR2 LAMA4 BCL11B CYBC1 MYH6 ABCC9 CASP10 NLRP3 DES RFX5 PACS2 FKTN TBK1 RPL26 CD3E LBR CYBA TCN2 ABCD4 PNP RNU4ATAC NEU1 ABHD5 ASAH1 ANAPC1 GATA2 EFL1 SF3B1 STX11 WRAP53 PCCA NHP2 CBL PRDX1 IKZF1 TNNC1 PPCS RPL27 SAMD9 SGCD MMUT ERCC3 FANCA MEFV SCN5A GINS1 MYSM1 NRAS MMAB AK2 SAMD9L LMBRD1 HYOU1 AP3B1 RPL35A SGCG WDR1 FBXL4 LRBA PARN SH2D1A IFNG PRDM16 PSEN1 TARS1 MDM4 CDCA7 TINF2 NEBL UNC13D SREBF1 G6PC3 RPS26 NUMA1 CRYAB RPS29 MYD88 FIP1L1 FANCD2 MSN HLA-DPB1 NEXN MAD2L2 NPC1 RPS27 ETV6 IFNGR1 PCCB IRF2BP2 TFR2 TCIRG1 RBM20 RBM8A HELLS HP_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_LYMPHOCYTOPENIA JAK3 STAT1 TCF3 PIK3CD RAG1 TRNT1 IVNS1ABP NBN MYD88 DOCK8 RAG2 WDR1 NHEJ1 LRBA RAC2 GFI1 MYSM1 DCLRE1C IL2RA IKZF1 KNSTRN ADA NFKB2 ICOS IGHM HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION LCAT SLC7A7 SMPD1 CYP7A1 UBR1 PCSK9 GALNT2 APOA5 TMEM43 LDLRAP1 NGLY1 CCDC115 ABCG5 APOB LMNA TTPA APOC3 APOA2 PANK2 LIPC PPARG ABCA2 LDLR EPHX2 FDFT1 EMD PPP1R17 SAR1B CEP19 ABCA1 ABCG8 PSMB8 SYNE2 MSMO1 APOE CCT5 TMEM199 GPIHBP1 GHR SLC25A13 LPL FHL1 ALMS1 MTTP ANGPTL3 SYNE1 APOA1 CETP HP_HYPERLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPOPROTEINEMIA SLC7A7 SMPD1 CYP7A1 UBR1 ABCG8 PCSK9 LCAT SYNE2 APOE APOA5 TMEM43 LDLRAP1 TMEM199 GPIHBP1 GHR SLC25A13 CCDC115 ABCG5 LMNA TTPA LDLR APOC3 APOA2 LPL FHL1 LIPC SYNE1 ABCA2 CETP EPHX2 APOB EMD PPP1R17 CEP19 HP_HYPOLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPOPROTEINEMIA LCAT SLC7A7 ABCA1 SMPD1 PSMB8 MSMO1 GALNT2 APOE APOA5 CCT5 SLC25A13 NGLY1 APOB LMNA APOC3 PANK2 ALMS1 MTTP ANGPTL3 PPARG APOA1 FDFT1 SAR1B CEP19 HP_POLYGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYGENIC_INHERITANCE PPARG POMC CFH TP53 UCP3 SDC3 ADRB2 TAL2 CARTPT FLT3 BAX ENPP1 NR0B2 GHRL BMP4 NBN IRF6 ADRB3 SHANK3 CST3 A2ML1 STOX1 AGRP SERPINH1 GNB1 BCR NLRP1 NUP214 ABCG8 TAL1 APOL1 HP_DIGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIGENIC_INHERITANCE SLCO1B3 GJB6 GJB3 NEK1 DYNC2H1 GDF6 GDF3 SMCHD1 GJB2 SLCO1B1 HP_GONOSOMAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONOSOMAL_INHERITANCE GRIA3 NDUFS4 FLNA CASK OTC TBC1D8B PAK3 NDP MBTPS2 PDE6G STAG2 NEXMIF NDUFB11 IL2RG ARX ARSL ATRX AIFM1 KDM6A AP1S2 NHS SLC9A6 AMELX BCOR FHL1 CSF2RA F8 NAA10 OPN1MW ROM1 HNRNPH2 DAZ1 CXorf56 AMER1 MID1 FMR1 RPGR AFF2 SMC1A IDS OFD1 HMGB3 ZNF711 AR MAOA MECP2 RPL10 FRMPD4 COX7B DLG3 NSDHL USP27X PRY2 NLGN3 CACNA1F IGSF1 SLC9A7 DAZ3 MAMLD1 EMD FANCB UBQLN2 SOX3 CCDC22 KIF4A PRPS1 TBX22 XIAP DMD SYP IGBP1 ZIC3 ARL6 ATP6AP2 CRB1 RPS6KA3 GPR143 GPR101 ABCB7 NKAP KDM5C AIPL1 ALAS2 CLCN5 RBMX L1CAM ATP6AP1 GPC3 CRX GPC4 NLGN4X DNAAF6 MED12 CCNQ PHF6 BTK G6PD PDK3 LAMP2 TMLHE DCX USP9X RP2 ATP7A GATA1 DDX3Y FGF16 AVPR2 PLP1 FTSJ1 POLA1 RAB39B THOC2 MTM1 FRMD7 TLR7 ADGRG2 MSL3 ARHGEF9 CYBB CHM SYN1 HSD17B10 NDUFA1 EDA LAGE3 GK GJB2 PGK1 FAM50A CNKSR2 PRICKLE3 EBP TBL1Y POF1B CDY2A RBMY1A1 GLA PLS3 PHKA1 PHKA2 HCCS MAGT1 NR0B1 EIF2S3 TBL1X SMPX GPRASP2 VCY WAS SLC35A2 HDAC6 HPRT1 PIGA UBA1 SLC6A8 COL4A6 ATP11C RPS4Y2 RLIM NYX CUL4B UBE2A CLCN4 OGT IKBKG PORCN GJB1 TAF1 SSR4 TSR2 ALG13 RBM10 BGN LAS1L LRAT MAGED2 OPN1LW UPF3B GJB6 ABCD1 ZC4H2 GDI1 PQBP1 RS1 PCDH19 PRY VMA21 SLC16A2 SH2D1A SHOX STS CLRN1 IGF2 TAZ ANOS1 EFNB1 CHRDL1 DAZ2 IL1RAPL1 BCAP31 KDM5D PTCHD1 AMMECR1 XK POU3F4 C8orf37 FGD1 BMP15 HUWE1 F9 IQSEC2 CDKL5 HDAC8 NONO PHF8 SHROOM4 ZDHHC9 SRY CNGA1 TRAPPC2 COL4A5 CLIC2 ACSL4 BRWD3 DDX3X GPR179 USP9Y CD40LG HCFC1 DIAPH2 SMS OPHN1 TEX11 RNF113A IRS4 BCORL1 CFP MSN ARR3 RBP3 OCRL HS6ST2 CDY1 WDR45 HSFY1 PDHA1 SH3KBP1 MID2 ATP2B3 DKC1 TIMM8A PHEX KLHL15 FOXP3 TSPAN7 BPY2 HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY PMM2 VKORC1 ALG6 F7 MGAT2 PGM1 SRD5A3 DPM2 SERPINC1 GGCX AHCY DPM1 MPI DPAGT1 HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY PMM2 ATP6V1A VKORC1 ALG6 F9 MGAT2 VWF PGM1 SRD5A3 MCFD2 MAP2K1 GGCX AHCY NGLY1 MPI DPAGT1 F8 LMAN1 F11 ATP6V0A2 ATP6V1E1 PTPN11 DPM2 SERPINC1 BRAF F12 DPM1 HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY FGG CFH SLC7A7 LYST NPM1 CD46 ZBTB16 UNC13D MAP2K1 RARA SPTB GGCX NABP1 NGLY1 STAT5B SPTA1 EPB42 F13B F10 ANK1 STAT3 FGA PTPN11 NUMA1 LMAN1 SERPINC1 ANO6 BRAF F13A1 PRF1 F5 PRKAR1A FIP1L1 VKORC1 CFI GNA14 MCFD2 PML FGB AHCY SLC4A1 STX11 BCOR SERPINE1 PLG XIAP HELLPAR TBL1XR1 HAVCR2 IRF2BP2 NLRC4 HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE CHRM3 B3GLCT RTL1 COLEC10 GPC3 A2ML1 GPC4 GNPTAB MEG3 RMRP SOS1 RAF1 SLC25A24 RRAS2 HNRNPA1 ELMO2 NRAS RASA2 ATP7A MCOLN1 COLEC11 SKI CHST14 MTOR FLNB MANBA FOXF1 XYLT1 PORCN CD96 RRAS PPP2R3C PIGQ SHPK DIS3L2 H19 PTPN11 IGF2 SOX6 RIT1 DLK1 KCNQ1 MYH3 KCNQ1OT1 FBN1 LZTR1 CANT1 CDKN1C SPECC1L MASP1 COL3A1 TBCK MRAS KRAS ACTG2 CBL BRAF EZH2 CHRNG SOS2 HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX WDR35 CCDC174 NDUFA4 NODAL PDHX UNC80 WDR62 FKRP SOX4 MCOLN1 YY1 CTNS ERCC3 AP4M1 DLL1 SUZ12 SHANK3 ZIC1 SLC1A2 C12orf4 SPATA5 KCNA1 GRIN1 TUBB MAPT B9D1 KANSL1 CEP55 POGZ DNMT1 SIK1 SLC25A10 TBC1D20 GDF1 RAC1 SEPSECS ATXN2 SLC12A2 GBA2 ARID1A NSD2 HTRA1 DHCR7 ABAT ASXL1 TGFB1 GPX4 KATNIP ADH1C ACTL6A RNU4ATAC ARX NDUFA12 VPS13A KIF7 NFIA MT-TV PIGP B3GALNT2 MSTO1 TMEM107 BRF1 EPG5 LHX4 GABRA2 MAP11 FAM111A GPC3 CDON COX7B DEAF1 WASHC4 PAFAH1B1 SLC45A1 GFM2 NRROS TIMM50 BRSK2 LMX1B NELFA LIPT1 DYNC2I2 PYCR2 CARS1 GOT2 GAA POLG2 ERCC8 ASPA PTCH1 RELN RNF13 GRIA3 GRM7 MBTPS2 SCN1B KCNMA1 NDUFS2 COG7 C12orf65 NARS2 NOTCH3 ODC1 TMEM70 TACO1 CARS2 HPDL ZC3H14 YWHAG STAT2 DPH1 STXBP1 DPM3 HMGCL GRIN2A KIF1C IGF1R POMK DIAPH1 TYROBP MOCS1 YWHAE ADSL TUBB3 SIX6 CHMP1A VCP TMEM216 KMT2E KCNB1 PANK2 RHOBTB2 CDK8 FA2H SLC30A10 MT-TF FDFT1 ALX3 GPT2 MED25 MRPS16 TECPR2 DIS3L2 BUB3 FLCN PEX10 TDGF1 BSCL2 UBE3A MAN1B1 ABCD1 AP4S1 RAB23 B4GAT1 EDC3 TARS2 L2HGDH FASTKD2 PRNP ZBTB20 C12orf57 B3GLCT GLI2 AP4B1 EHMT1 AIFM1 DCX EFNB1 NONO HESX1 GTF2H5 RBM10 NSUN2 TRAPPC9 KCNT1 KIRREL3 HACE1 CEP120 ST3GAL3 ATXN3 SLC19A3 NDUFB8 NSD1 TAF1 POMGNT1 GABRA5 EEF1A2 SCN3A ASNS DDX3X PSMD12 MDH1 SET ZFR ZEB2 SHH TAF13 IFT80 COG4 FGFR1 DAG1 OCRL CIT HNRNPK DCHS1 TBCK HCCS ZIC2 ISG15 HEPACAM KIDINS220 WDFY3 PPP1R12A FBXW11 NKX6-2 FGFR3 SELENOI RERE TMCO1 TET3 SURF1 NTRK2 MKS1 DOCK7 PRRX1 PIGN CLIP1 TRMT1 MBD5 GLUD2 ANKRD11 KDM3B DLAT ZNF462 HIBCH MED13 SZT2 PC COQ2 AP4E1 DARS2 SIX3 SLC25A19 DPYS PDE6D ZBTB18 AHDC1 ATP6AP2 CRPPA MT-TS2 DYRK1A ADAR ATR FOXP2 FGF8 LRP2 GCH1 PRKDC ZMIZ1 GRN FAM126A BCAP31 TSEN2 APC2 HCN1 CDK19 SOX2 TAF2 CDH2 SSR4 TSEN54 FOXE3 TTI2 MT-ND6 RFT1 CEP41 SHOC2 SETD2 CDK13 ADAT3 EPB41L1 ACVR1 KCNT2 SATB2 ATN1 CPLANE1 COASY PPP2CA EIF2AK2 FOXH1 QARS1 TBCD ARNT2 NEUROD2 STUB1 NR2F1 SPG11 ASPM PLAA ACOX1 SUFU ATRX POLG ACTL6B ANKLE2 HERC1 CACNA1G SON PIEZO2 SIN3A XPR1 SRPX2 LONP1 COPB2 CLCN4 RAI1 COX15 PSEN1 AARS2 DMPK PCGF2 PHGDH NPHP1 RLIM KDM1A MFSD2A ALDH6A1 RNASEH2A TBP RAD51 C9orf72 DACT1 WDPCP FLI1 GALC CYFIP2 IBA57 PSAP LMNB1 CPT2 RPGRIP1L HRAS POLR3A SMC1A DNAJC19 MTOR LAMB1 EBP RARS1 OTX2 CDK5RAP2 RMND1 HNRNPU CA2 TGIF1 ARSA NDUFS4 PIGU KLHL7 PCLO ARFGEF2 STAMBP IDS GATAD2B LNPK SLC25A4 CWF19L1 IQSEC1 ARV1 COL4A1 STRADA SCYL2 KIAA1109 PDGFRB GABRG2 KCNQ2 AP1S2 TMEM231 IGBP1 TRMT10A AP5Z1 KMT2A RPGRIP1 MT-ND1 TSEN15 LARGE1 CYB5A CPLX1 DCC KRAS TAOK1 GBA ATP6V1A NEXMIF ALDH18A1 SCN8A SETBP1 NDUFB11 MYT1L RSPO2 MT-CO1 ASH1L LSS NACC1 CRADD SLC20A2 PDE10A CHMP2B SQSTM1 TMEM67 CC2D2A SNX14 MAG ALX1 FTL SLC25A22 RAB3GAP2 DYNC1I2 DYNC2H1 PPP1R15B FRMD4A UFC1 UPF3B AKT3 DHCR24 SHMT2 C2CD3 FGFR2 SLC39A14 BRAF CCDC47 UBE2A TBCE NARS1 KIF5C TRAPPC11 NFIX RNASEH2C IFT52 KIF1A DOCK8 MT-TK CEP104 CDKL5 NDUFV1 IFIH1 MTFMT SMARCA4 GJC2 POMT2 EIF2S3 DPF2 SLC2A3 PROKR2 CLTC LETM1 GPC4 HIVEP2 KIAA0586 UBA5 NDUFAF3 PNPT1 PPP3CA MPLKIP ACTG1 SLC1A4 MT-CO3 AHCY PIK3R2 GNAO1 DMXL2 REPS1 GAS1 TUBB2A LMAN2L SYNJ1 HSD17B4 YIF1B TSC1 GRIN2B KCNQ5 SLC2A1 MLC1 CAMK2A TMEM260 MT-TW NDUFS7 NDUFA6 TYMP HTRA2 ARHGAP31 CDC42 OSGEP MACF1 KMT2C DPM2 RALGAPA1 TBC1D23 TMEM106B CNKSR2 KCNA2 PIK3C2A NDUFAF2 PIGG FOXA2 NDUFAF5 CTNNB1 TECR POMT1 B4GALNT1 ERCC6 UGP2 PIGC RAB18 PDP1 NT5C2 TMEM165 HSPA9 GLI3 SMO EXTL3 DNAL4 COG6 AP2M1 FLII ARID1B MID1 INPP5E DISP1 RXYLT1 ZNHIT3 NALCN AMT DONSON PDGFB POLR1C SCO2 MOCS2 OSTM1 TANC2 CACNG2 CYP27A1 ARSI ZNF148 PEX1 CENPE PDYN NRXN1 ATL1 PPP2R1A MLH1 MED12 SNAP29 FBXO7 ENTPD1 FOXG1 ARL13B GTPBP3 USP9X TRAPPC12 TUBGCP2 BRAT1 GAD1 THOC2 C19orf12 IQSEC2 PGAP1 MT-TH NDUFS1 AIMP2 KCTD7 DLL4 CYB5R3 CEP63 UBTF FGF12 CYP7B1 CNTNAP1 GNAS GM2A RRM2B DARS1 HNMT PCNT NF1 NADK2 CILK1 GJB1 EMC1 CDK5 MDH2 KIF14 ZFYVE26 DALRD3 NDE1 NDUFS3 SVBP TNIK VPS11 EZR FBXL4 ERLIN2 DEGS1 DYNC2I1 MMUT MFF ATAD3A RAB3GAP1 CTBP1 PLA2G6 ATXN8OS WWOX WDR4 RANBP2 CSPP1 OPA1 BCORL1 WDR45 FLVCR2 TMX2 PEX16 SYT1 WAC CUX1 RTTN CHAMP1 TREM2 OFD1 MT-CO2 HIC1 UBE3B DCPS CYP11A1 PUF60 TRAK1 NDUFA13 ACER3 ARMC9 FDXR GCSH PRMT7 LYRM7 RB1 BICD2 MMACHC EOGT NOTCH1 PIGQ NEDD4L MRPS22 PAK1 LIG4 FKTN FRMPD4 PDHB EMX2 KIFBP MRM2 THOC6 EP300 POU3F3 PDHA1 RNASEH2B SPTAN1 PDSS2 MT-ND5 RFWD3 CSF1R DYNC1H1 RUSC2 TCF4 TMEM237 CYP2U1 LAMA1 SYNE1 KCNK4 TREX1 ACTB NUP62 ERCC1 VAC14 FBXO31 SARS1 NHLRC2 MT-TL1 ALG11 AHI1 CACNA1A SLC44A1 SPECC1L GBE1 ATP13A2 NDUFA9 MT-ATP6 RAB11A MED12L KDM5B NOVA2 EPRS1 SLC46A1 RECQL4 PTPN23 TUBB2B NR4A2 GLUL PIGA GPKOW ACADS GMPPB KATNB1 AUH TCTN1 AARS1 TCTN2 TRPM3 GRIN2D L1CAM VANGL2 NDUFAF6 LAMA2 ALX4 MT-ND2 TUBA8 SMARCD1 GNA11 SAMHD1 ERCC2 D2HGDH CENPJ ZSWIM6 NDUFV2 NUS1 GABRB1 WNT3 EXOSC8 SLC25A24 PLEKHG2 WDR81 RSRC1 PIBF1 BMP4 CLPB CIC AIMP1 MRPL12 ITGB6 SMARCC2 PMS2 LRRC32 SOX3 PYCR1 MICU1 TRAPPC6B MORC2 PRKN SEC31A DNM1L RNF113A PTDSS1 LRRK2 ACO2 MBOAT7 GCDH VPS53 AMER1 NANS GABRB2 KAT8 NDST1 FARSA WT1 POLR2A JPH3 MED23 PLP1 NUP188 FAM149B1 CRBN CSNK2B NAA10 TRRAP WDR45B MTHFR NRAS MRPS25 KNL1 DDX6 LIPT2 SASS6 KIAA0753 TMEM138 SNCA SMARCE1 MEF2C PSAT1 CEP290 CNOT3 CNOT1 AGTPBP1 EML1 METTL23 POLR3B MAF SUCLG1 GLDC MT-CYB SYNGAP1 NAGA RSPRY1 EARS2 SLC35A2 CC2D1A HSD17B10 DDX59 HYLS1 TUBA1A TRIM8 PORCN SOX11 STIL ARID2 TMTC3 TOE1 METTL5 MOGS ATP8A2 MT-TQ CDK10 NKX2-1 PRDM16 GRIA4 CEP57 TARS1 CENPF PPP2R5D SLC13A5 SLC12A6 ZNF423 STAG2 IER3IP1 ETHE1 CASR CASK TSEN34 HTT PPP2R3C FANCD2 PDE8B WARS2 TIMM8A POMGNT2 OCA2 TK2 PAH TSC2 TRAPPC4 DHDDS RAC3 BUB1B PROP1 SLC25A15 PRPS1 BCOR FANCI CEP152 BPTF ZMYND11 SUMF1 NECAP1 RBPJ PSMB8 ISCA2 PET100 GTPBP2 NTN1 FRRS1L EOMES PRUNE1 COG2 OTUD6B DOCK3 CTNNA2 GFM1 SACS WDR26 HIKESHI CNTNAP2 GRIK2 MCPH1 SALL1 IRF2BPL ACY1 NTNG1 TCF20 CDH15 SNIP1 KIF2A LMBR1 DPYD USP7 NID1 PIGB DISC1 NAXD GLRX5 ECHS1 ASXL3 COG5 PHC1 FOXRED1 CACNA1E MTRR VWA3B SMG9 WDR73 CD96 JAM2 COL3A1 TWNK GJA1 AMPD2 ERMARD VRK1 CREBBP SCN2A SLC5A6 KCNAB2 ACTA2 AHSG PIGH SPG21 COQ8A KAT6B SLC9A6 ACP5 PUS3 SDHA RNASET2 ZDHHC9 GABRD TRIP13 EXOC7 ADARB1 MT-ND4 PARS2 SNCAIP TCTN3 DNM1 SMARCB1 NDUFA2 RPS6KA3 ERCC4 MAPRE2 KIF15 POU1F1 MAPK8IP3 NDUFA10 BUB1 GTF2E2 VAX1 PRSS12 VPS51 PNKP CAMK2B FMN2 DDHD2 FAT4 SKI OPHN1 CNP NDUFS8 VAMP2 MAP1B CEP135 VPS13B NCAPD3 SLC6A8 CUL4B EXOC8 FIG4 CDK6 GFER TUSC3 SAMD9L SLC6A9 MAP2K2 SUCLA2 B9D2 AP3B2 CCDC88A VPS13D LINS1 CLP1 GSX2 SPG7 GALNT2 FH RNF168 ARL3 FGFRL1 DOCK6 ADNP CACNA1B DHX16 HK1 PAX6 GPSM2 VARS1 MT-ND3 RORA CP HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY HTT JPH3 NDUFAF3 PNPT1 RNASEH2B ADAR OPHN1 ATXN3 PDE10A SURF1 COASY BSCL2 FOXP2 PDE8B RNASEH2A TREX1 TYROBP AIFM1 FTL TIMM8A NDE1 NDUFS2 SLC2A3 NDUFB8 GCDH SAMHD1 RNASEH2C VPS13A POLR3A ATP13A2 RANBP2 MT-ATP6 TREM2 DCX CP NUP62 IFIH1 TUBB2B SCO2 HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION VPS33B ANK1 ETFA IL12A GYPC KIF23 UGT1A1 CASK PGK1 ABCB11 SPTB NR1H4 RFX6 IDH2 SPTA1 EPB42 SPIB VIPAS39 GPC1 SLC4A1 MMACHC PRKCSH MMEL1 POMC FDFT1 PAFAH1B1 DGUOK SLCO1B3 PRF1 ETFDH MMAB ADK PIEZO1 HK1 ETFB POLG2 LMBRD1 RHAG SUCLA2 ABCC2 OSTM1 SLC25A13 PFKM PKLR ATP8B1 L2HGDH GPX1 SLC17A5 IL12RB1 MMUT PEX19 ABCB4 SLC2A1 KLF1 MMAA IGF1 FBP1 FH MMADHC GSR EPB41 POU2AF1 LIPT1 SLCO1B1 CPOX MCEE G6PD PKHD1 ABCD4 CPT2 HCFC1 GLRX5 KCNN4 LBR SEC63 AKR1D1 IRF5 TNPO3 TNFSF15 DNAJC19 PAX8 HBB CCN6 SC5D UBE2A ACSF3 ALDOB WDR35 TRMU LRP5 ODC1 GCDH MTTP AMACR HSD3B7 SLC30A10 PRDX1 HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION ABCB4 ATP8B1 SBDS BAAT DZIP1L TJP2 EFL1 TALDO1 NR1H4 ABCB11 DNAJC21 PKHD1 EPHX1 SRP54 HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 RNF168 SMARCB1 RAD50 PDGFB SMO HP_INCREASED_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BONE_MINERAL_DENSITY CLIP2 TBCE LRP5 HHAT MC4R SOST ERCC3 RNF113A PTDSS1 TRPS1 TNFRSF11B GBA HSPG2 TCIRG1 STX16 KL GNAS HMGA2 ACP5 FLNA LEMD3 AMER1 PLEKHM1 TNFSF11 FAM20C RUNX2 EIF2AK3 EBP GTF2E2 GTF2IRD1 PTH1R GTF2I SETBP1 TNFRSF11A BMP1 OSTM1 FERMT3 MEG3 DLX3 SLC26A2 DMP1 SRSF2 RFC2 TET2 RTL1 TBXAS1 TGFB1 CSF1R ERCC2 VCP ANKH CA2 TARS1 CTSK SQSTM1 SIK3 LPIN2 GTF2H5 GJA1 MIR140 SNX10 TBL2 CLCN7 ERCC6 ASXL1 FAM111A NGLY1 SLC39A14 LRP4 ANO5 NOTCH3 MAP2K1 PHEX MITF MAP3K7 DHCR24 AGXT RUNX1 SGSH ERCC8 BAZ1B LIMK1 ELN MPLKIP LMNA HGSNAT MTAP SCARB2 LBR SLC29A3 ENPP1 NAGLU CBL DLK1 WRN HP_OSTEOPETROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPETROSIS PLEKHM1 SNX10 CA2 CLCN7 AMER1 ANKH TCIRG1 MITF CSF1R PTDSS1 DHCR24 GJA1 OSTM1 LRP5 TNFSF11 FERMT3 TNFRSF11A HP_HIGH_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_MYOPIA CNGB3 ZNF644 CPSF1 P3H2 ATP6V1A FBN1 TBC1D24 EFL1 COL11A1 LRPAP1 COL2A1 ELOVL4 ADAMTS10 ARR3 CYP4V2 RAB28 LRP2 HS6ST2 ERBB3 CYP1B1 ZNF469 MYOC HERC1 ADAMTSL4 GZF1 LTBP2 RIN2 PRDM5 DAG1 ATP6V0A2 ATP6V1E1 SMS COL18A1 P4HA2 NYX COL9A2 IRX5 COL9A1 CRIPT TTC8 SLITRK6 FGFR3 HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY ABL1 NOD2 RNASEH2B LCAT STAT1 KDM6A CLIP2 JAK2 CYP7A1 PUF60 GJA5 BUB1B PCSK9 DLL1 FBN2 TBX1 ARFGEF2 KCNH1 PDGFRB GGCX PRKG1 FARSB BRCA1 ABCG5 BCOR TSR2 SAMHD1 MEIS2 VHL LIPC ELN ENPP1 FGFR1 MLXIPL ABCC6 GLB1 KANSL1 CYP11B1 NODAL TGFBR1 SELENOI HES7 B3GALT6 GJA8 NPC2 FBXW11 GDF1 SEC24C PTPN22 COX7B FMR1 GBA SMPD1 PLD1 GATA5 RPS19 NEU1 GTF2I UBA1 YY1AP1 HTRA1 DHCR7 PTEN NDUFB11 SMAD3 FANCM NDE1 ADA2 FBLN5 PKD1 MT-ND2 ACTL6A RNU4ATAC WT1 LDLR IL12B MYLK EP300 SEMA3E ABCA1 SLC20A2 FBN1 BRF1 SRCAP TBL2 DGCR8 BRCC3 IGFBP7 NKX2-5 DOCK3 ROBO4 XRCC2 GP1BB MYH11 COL4A1 APP COL3A1 CREBBP BICC1 CARS1 DYNC2LI1 XYLT2 BRAF C12orf57 KIF1B AGXT VAC14 LIMK1 TRAF7 MFAP5 CYP27A1 MT-ATP6 NR2F2 GATA4 HGD MT-ND4 NTNG1 TCF20 GJA1 COL1A2 MT-CO3 GAA NOTCH3 SMARCAL1 TGFB2 LOX SPECC1L RNASEH2C NADSYN1 COL5A1 ALMS1 PKD2 RPS15A RAD51 GALC EFEMP2 IFIH1 CHRNG NOTCH1 WRN MLX HCCS ENG MAT2A SDHB PCNT MAP2K1 NT5E TBX5 CRELD1 TGDS KMT2E DNMT3A FANCD2 COMT TSC2 CDK8 ACVR2B PSAP RPL11 DYRK1B SMG9 EHMT1 ERCC2 CRKL DIS3L2 ABCG8 BUB3 PIGA B3GAT3 CAT LEMD3 ZEB2 PIK3R2 CTCF RPS10 MAPK1 KCNAB2 ANGPTL6 LIPA ERCC3 MED12 ACTA2 ERCC4 GAS1 DGCR2 MYCN SRY AMER1 TMEM260 DNAH1 CSF2RB LMNA XYLT1 AEBP1 RET ERCC8 SLC25A24 RPS24 RNF213 PPARG ATP7A FLNA NSD1 ERCC5 RPS28 FANCC PRKAR1A WDR26 KMT2D PSMD12 THSD1 RPL18 PPP1R17 PPP2R1A TGFB3 CDON TBX20 CTSA GABRD ALDH18A1 CSF2RA TRIP13 APOE STRA6 SC5D ANTXR1 HNRNPK UBE2T GATA6 MYOC RPL5 WAC KCNJ5 MAD2L2 MT-ND1 ZIC2 KNSTRN SHH WDFY3 NDP RERE GLI3 TMEM127 ERCC6 TGFBR2 LDLRAP1 DGCR6 TALDO1 MKS1 TPM3 COL5A2 MYT1L PIGN APOA2 PTCH1 THPO UFD1 FOXF1 SLX4 TPM2 SMAD4 TRMT1 DISP1 ACTL6B MT-ND5 RAI1 BUB1 FANCB PGM3 HEXB ADK ARF1 MED13 GTF2IRD1 PDGFB NEK9 COL1A1 ESS2 RREB1 PRPF3 ZMPSTE24 TANC2 TRRAP RPL35 RPL15 RFC2 SERPIND1 PALB2 MYPN TMTC3 SIX3 RPL31 HIRA MT-ND6 ZNF148 FLNB TGFBR3 ADAMTSL1 HRAS NKAP ASAH1 ESR1 BCR ADAR FZD4 PIK3CD BEST1 FGF8 DDX6 FANCI FOXH1 LRP5 FOXE3 GATA1 RPL26 SON PTPN11 MT-ND4L RAD51C ABCD4 CDH2 BMPR2 POU3F4 EPHX2 KRAS SLC2A10 SKI MCTP2 MYH7 GANAB TNXB MMP21 SETD2 PTH1R WDPCP FANCE CHST3 MYH3 GHR RIN2 PLOD3 NEK1 NKX2-6 MAX MAP1B JMJD1C STAG2 ZMIZ1 DLK1 CHD4 SDHD RPL27 GUCY1A1 APOB TULP1 MT-CYB LZTR1 NRAS CYP17A1 NXN MPL SMAD6 MMP2 RPS17 GM2A IDS NF1 BRIP1 JAG1 CEP19 TKT SVBP BGN TGIF1 FIG4 HOXA1 SOS2 APC2 TREX1 ZNF687 HYOU1 RPL35A MEG3 ARL6IP6 POR PRDM16 RPS7 GDNF RTL1 TDGF1 CEP57 GLI2 PPP1CB NEDD4L BANF1 FANCF FGFR2 MMP14 ERMARD RLIM RNASEH2A BPTF CYP1B1 CHD7 ARVCF BRCA2 ROR2 FLI1 RPS26 NSMCE2 TSC1 APOA5 HDAC4 FLT4 AFF4 RPS29 TAB2 BCORL1 BAZ1B HEXA HLA-B FANCL RFWD3 FANCG FANCA TMEM231 NPC1 RPS27 FKBP14 PAH TRAPPC4 PLOD1 RBM8A UBE3B HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK KMT2B ANO3 KIF1C ERGIC1 PPP2R5D PCGF2 TUBB4A COL6A3 COL12A1 TBP COL6A1 COL6A2 MEOX1 MYF5 GCH1 GDF3 PRKRA TRPV4 FLI1 SGCE CIZ1 ZNF142 HPCA THAP1 GDF6 KCNC3 CP ATP13A2 ALS2 SPG11 KCTD17 FUS B3GALT6 NAA10 ACTA1 GNAL CNP PNKD CACNA1A SIGMAR1 TGFB2 TGM6 HK1 PRRT2 NEK9 CDK10 GDAP2 DRD2 COLEC11 ATP1A3 TUBB3 MAPT TOR1A SCP2 SYNGAP1 CEP85L COX20 HP_TEMPORAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_PATTERN EIF4G1 BCKDHA MPZ PMP22 OPA1 ATXN8OS SPAST SNCAIP SNCA SMC1A ATXN2 WASHC5 DBT ATL1 MAPT NIPA1 TBP GLUD2 NR4A2 BCKDHB ADH1C GBA HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION GALT NDUFA11 NDUFS4 NDUFB9 PDHX DCXR NDUFAF1 LIPT2 COX6A2 TWNK NDUFAF4 LONP1 ITPR3 NDUFS7 BCS1L UQCRC2 TIMMDC1 NDUFAF2 HNF1A SLC25A26 NDUFV1 FOXRED1 POLG GALM MT-TK AIFM1 NDUFS6 MT-TF NDUFA1 TMEM126B MT-ND3 TKT NDUFAF5 PTPN22 GALE NDUFS1 MT-TL1 NDUFS8 MT-TI NDUFAF3 SORD NDUFS3 PC PDHA1 NDUFAF8 GALK1 SLC25A13 NDUFB11 NDUFB3 NDUFB10 ACAT2 MT-ND2 IL6 MPC1 NDUFA6 PNPLA8 NUBPL RPIA MECP2 MT-ND1 NDUFV2 COX10 MT-TP NDUFS2 LDHA HP_ABNORMAL_GLUCOSE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS RHO CLIP2 NDUFS4 UBR1 CYP11A1 WFS1 MC4R INS HESX1 KDM6A MT-CO3 CFTR BCS1L NDUFV1 SIX3 RTEL1 MTOR MMACHC HNF1A AKT2 HNF4A CTNS PLCD1 PREPL SAG POGZ PAK1 MAGEL2 NEUROD1 KCNJ11 PSTPIP1 MT-TF IFT140 OTC MT-TK CTNNB1 SNRPN DISP1 ROBO1 SLC29A3 IGFALS CTRC ABCC8 MT-TE PIK3R1 HYMAI PPM1B IL18BP C8orf37 NDN BSCL2 NODAL TCF7L2 TANGO2 PHKA2 GATA3 RP1 MOG TBL2 LHX4 MT-ND5 SLC19A2 POLG2 AHI1 FXN PROP1 NFKB2 G6PC KLF11 AGL GABRA3 ZMPSTE24 GFM2 GAS1 MTO1 HSD11B1 GPD2 SLC34A1 HERC2 MT-ND6 CARS1 GATC GLRX5 NDUFA1 PAX4 LIMK1 SHPK ZNF513 SLC30A8 MT-TL1 GJA1 PCARE CORIN NNT DCAF17 GCK COG7 GLI2 PCCB PROK2 ODC1 MT-CO1 NPAP1 BLM DKC1 SNORD116-1 COX10 SLC1A1 WRN SPINK1 HMGCL SHH NDUFAF1 IGF1R CISD2 AIP PDE8B MT-CYB NEK2 IFT172 APPL1 IFT88 HMGA2 FUT8 MKRN3 HADH GLUD1 SNORD115-1 MADD POMC PDE11A POLD1 RGR CTDP1 ZFP57 RETN IMPDH1 GLIS3 SERAC1 EIF2AK3 RTL1 CAT VANGL2 DLL1 CEL MC2R MPC1 ZBTB20 AUH GATB CACNA1S PDX1 MPV17 SLC25A20 NR3C1 BRCA1 FBP1 GATM OCA2 AEBP1 USH2A MCCC1 PNPLA2 AGBL5 ATP7A ACADM NSD1 LEPR ARHGEF18 TXNRD2 FOXC2 STOX1 NBAS DLD DLK1 PRKAR1A CLPB ELN FOS MT-TW AMACR NOP10 BRAF GATA6 RBP3 IGF2 CA4 COG8 EDA LMNA ASXL2 MFN2 POC1A NDUFA11 INSR DNM1L SLC7A14 SNRNP200 TOPORS UQCRC2 HLA-DRB1 CAVIN1 DNAJC3 TIMMDC1 CDKN1B STAT1 HBB GCDH SEMA4A NDUFS6 IDH3A SIM1 CP WT1 DIS3L2 LEMD3 PLAGL1 ITCH BBS2 MRAP TBX19 HAMP SLC5A1 GTF2IRD1 ETFB PNPO PC CAV1 PDE4D PDE6A ACAD8 RFC2 NR1H4 CYP21A2 LIG4 MT-TS2 MCCC2 PCBD1 GPC3 ESR1 LIPE KLHL7 ADAR IRS2 GPR161 HSD3B2 USP8 LRAT KCNE3 HADHB SLC37A4 FOXP1 NDUFAF6 GHR RET CNOT1 PTRH2 PET100 SARS2 SETD2 HADHA NDUFS3 NSMCE2 KDSR SLC22A5 SUCLG1 ALDOB GK BRCA2 MRPS28 AHR NDUFV2 MAK LRP6 ETFA PEX6 TP53 ERGIC1 ZIC2 CYP19A1 ITPR3 HSD17B10 NDP SLC16A1 IARS2 ENPP1 MMP2 ARNT2 SH2B1 GREB1L STUB1 USB1 DHX38 NDUFS1 MPI NDUFS8 TREX1 CCDC28B MT-TQ HERC1 GALK1 RLBP1 BCKDHA CNGA1 NR2E3 IL2RA MTX2 AGPAT2 SUFU WDR11 XRCC4 TINF2 MMP14 NDUFB9 REEP6 PPP2R5D DMPK KRAS NDUFAF4 RNASEH2A UCP2 IDH3B NDUFS7 EFL1 IER3IP1 GLI3 BEST1 HMGCS2 ATM PRPF31 APOA5 ADA2 PPARG CPT2 AFF4 SLC16A2 MERTK QRSL1 ZFYVE26 BAZ1B EDA2R MKKS H19 DNAJC19 ROM1 WARS2 KCNQ1 KCNQ1OT1 PRPF8 PTPN1 CDKN1C GH1 ACADVL CA5A UQCRB DHDDS SLC25A4 RNASEH2B PCK1 POLA1 SMPD4 EYS STAT3 TTPA TRMT10A SAMHD1 ADCY3 CPT1A RP2 RPGR PRPF4 PDE6B PCCA MT-ND1 MLXIPL DMXL2 HFE PRKACA BLK NRL PSMB8 ITGA8 GTF2I PTEN NDUFB10 MT-ND2 PALLD MRPS7 MEN1 SLC3A1 ARL2BP AR ARMC5 IGF1 FGF20 MT-TC POMGNT1 CLRN1 LHX1 NDUFAF2 PCK2 CASR PRSS1 MLYCD LMNB2 PPP1R15B PHKG2 PRKAG2 PWAR1 CDON HRAS MT-ND3 FAH IL6 SLC40A1 NDUFAF3 AIRE MICOS13 KCNJ18 HMGA1 RP9 ACSF3 NOTCH3 CTC1 PTCH1 ARL6 SCO1 RNASEH2C ALMS1 NDUFA6 FSCN2 SCN4A HNF1B FUZ FLT1 IFIH1 PCNT EIF2S3 FGFR1 KIAA1549 TERC PMM2 PROKR2 CERKL MRPS2 FOXRED1 CPA1 GPC4 TMEM126B TWNK ETFDH PTPN22 TTC8 POLR3A NUBPL IRS1 SLC52A1 GJB3 NPM1 SOX3 MEG3 BCKDHB RPE65 TFAM FBN1 CDHR1 GJB4 GALT FOXA2 SLC12A3 ZNF408 DBT APOE PEX1 HGSNAT ACAD9 NKX2-5 MT-ND4 LRPPRC HJV SMAD4 ABCA4 EHHADH TCF4 PCSK1 FOXP3 NDUFS2 ELMO2 PPP1R3A SBDS CNGB1 CYB561 DBH PYGL PLIN1 POU1F1 PRSS2 SGPL1 TERT STAT6 CDKN2A SCAPER CNBP KIZ RP1L1 MAFA TGIF1 PEX10 GPR101 CRX CAMKMT FGF8 CLCNKB RIMS2 NEUROG3 MT-ATP6 GHSR PROM1 MT-TV SRP54 NDUFAF5 OTX2 PTF1A PGM1 MTNR1B MT-CO2 MT-TH NDUFB11 IMPG2 NDUFB3 WRAP53 NHP2 PDE6G ACAT1 VANGL1 MST1 CRB1 RAC1 MTHFR STAR SPATA7 RFX6 PRPF3 LEP PRCD PALB2 HLA-DQB1 GNAS CACNA1C RRM2B RDH12 RNF125 BBS1 GYS2 DGUOK CEP19 IARS1 SLC2A2 TKT TULP1 SAMD9 ATP5F1D APC2 CIDEC DNAJC21 ACADS LRBA PARN BMP2 PNPLA6 TTC7A UQCC3 GPR35 PRPH2 POLG ARL3 GUCA1B ALAS2 PWRN1 TUB CDH23 FAM161A DOLK PRPF6 TDGF1 MAPK8IP1 OPA1 LIPC PLAG1 FOXH1 PAX6 ACADSB NDUFAF8 IGF2BP2 SOX2 NAB2 KCTD1 OFD1 COL2A1 HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION NDUFA11 SLC37A4 NDUFS4 INSR CYP11A1 PCK1 PROP1 INS ACADM HESX1 GLUD1 KDM6A PPP1R15B UQCRC2 KCNJ11 BCS1L STAT3 LHX4 TIMMDC1 HNF1A NDUFV1 GCDH TRMT10A CPT1A NDUFS6 MTOR MMACHC SLC16A1 PCCA CYB561 ABCC8 DBH DMXL2 PYGL HNF4A POU1F1 MCCC2 AKT2 PREPL SGPL1 POGZ PPP2R5D PAK1 STAT6 PDX1 ACADVL OTC ROBO1 MRAP HADHA FOXRED1 TBX19 ITGA8 ETFB PNPO PC PTEN PIK3R1 HFE PPM1B NDUFB10 WARS2 ACAD8 MT-ND2 LMNA NR1H4 CYP21A2 MRPS7 MEN1 TANGO2 MT-ND1 PHKA2 HYMAI SLC3A1 GPC3 ARMC5 GPR161 FBP1 MCCC1 HSD3B2 KCNE3 IGF1 NFKB2 G6PC HADHB FGF20 AGL GABRA3 ZMPSTE24 GFM2 CAMKMT MTO1 NDUFAF2 ZFP57 PCK2 RIMS2 MLYCD SLC34A1 NDUFAF6 CPT2 GHR RET GATC PHKG2 GHSR PET100 PRKAG2 NDUFA1 CDON HRAS MT-ND3 APPL1 ACAD9 FAH NDUFAF5 SHPK SETD2 GCK NDUFAF3 PGM1 MICOS13 KCNJ18 NDUFS3 NNT IGF2 NDUFB11 NEUROD1 COG7 ACSF3 GLI2 HSD17B10 NDUFB3 CDKN1C SLC22A5 PCCB SUCLG1 ALDOB SCO1 IL6 ODC1 GK NDUFA6 MRPS28 SCN4A MT-CYB MC2R NDUFV2 COX10 SLC1A1 ACAT1 ETFA HMGCL NDUFAF1 EIF2S3 ITPR3 STAR RFX6 EIF2AK3 MRPS2 IARS2 SLC25A20 FUT8 KLF11 CACNA1C HADH PAX4 MADD GREB1L RNF125 POMC GPC4 GYS2 TMEM126B DGUOK CTDP1 PCSK1 ETFDH NR3C1 PTPN22 SAMD9 NDUFS1 MPI SERAC1 NDUFS8 ATP5F1D APC2 CEL HERC1 GALK1 BCKDHA ACADS MPC1 AUH GATB CACNA1S NUBPL UQCC3 SLC52A1 MPV17 WDR11 NDUFB9 HMGA2 NDUFAF4 GATM UCP2 NDUFS7 BCKDHB GLI3 ATP7A TFAM NSD1 HMGCS2 TXNRD2 SLC2A2 GJA1 DOLK PPARG AFF4 QRSL1 NBAS DLD GALT SOX3 CLPB H19 DNAJC19 FOXA2 PTF1A DBT PLAG1 KCNQ1 KCNQ1OT1 ACADSB GATA6 PLAGL1 NDUFAF8 NAB2 COG8 PROKR2 GH1 LRPPRC CA5A OTX2 ASXL2 UQCRB EHHADH BLK NDUFS2 HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL CLIP2 DMD FKRP VCP PSEN2 SUCLA2 COL6A1 SETX HNRNPA1 CCDC115 FHL1 ACTA1 HAND2 GMPPB LARGE1 MYH7 RAF1 RYR1 MAP3K20 COL12A1 ANO5 KCNA1 GTF2I NEB POMT1 NSUN2 MYF6 MSTO1 DOLK LMNA NEFH VPS13A LIMS2 CAP2 TANGO2 CRYAB B3GALNT2 PHKA2 FDX2 CRPPA TXNRD2 TBL2 POLG2 DMGDH TTN ITGA7 DNM2 GABRA3 GATAD1 TRAPPC11 GNE CPT2 COL6A3 LAMP2 FKTN GATC MYBPC3 TNNI3 PHKG2 POMGNT1 GAA HINT1 POMT2 MYPN DOK7 FHL2 LIMK1 INPP5K SGCA KCNJ18 UQCRFS1 DYSF CAPN3 COG7 POLG NARS2 BIN1 SIL1 SCN4A DSG2 ANKRD1 ACTN2 DPM3 SYNE1 PIEZO2 CAV3 FLNC DNMT3B POMK TWNK HSPG2 CASQ1 PABPN1 COQ2 TRPV4 COL4A1 BAG3 COG8 HADH USB1 MT-TL1 POGLUT1 C1QBP TAF1A MPZ MT-TL2 VCL TMPO LAMA2 SQSTM1 PLEC AHCY B4GAT1 CPT1A GATB CACNA1S DNA2 LTBP4 PLN COX20 SLC25A20 TK2 KLHL41 SGCG XK MYL2 PIGY TCAP LRP12 COL6A2 PNPLA2 PLA2G6 B4GALT1 ACADM DAG1 SMCHD1 DPM2 HNRNPA2B1 TAZ CHCHD10 COL9A3 TNNT2 PGAM2 ELN ENO3 ACTC1 FAM111B TPM1 DUX4 SGCD MICU1 TPM2 TRMU CSRP3 TSFM STIM1 ORAI1 TMEM165 HNRNPDL TMEM43 SYNJ1 ALG2 LDB3 TRIM32 CAVIN1 MYMK MTMR14 COG6 FLAD1 TPM3 RXYLT1 TIA1 AR LPIN1 ACADVL GTF2IRD1 PYGM EMD RFC2 SDHA CNBP RNASEH1 MGME1 FRG1 POPDC3 RBCK1 LAMA4 LIPE C19orf12 GFPT1 KCNE3 MYH6 TRIP4 TIMM22 MYOT ABCC9 DES AP5Z1 MPV17 PET100 ISCA1 LMOD3 SLC25A42 ACAD9 ABHD5 TFG POMGNT2 SYNE2 PGM1 SELENON CFL2 PLEKHG5 KLHL9 AGL SGCB MT-TE DNAJB6 GOSR2 TNNC1 PPCS LDHA PHKA1 LAMA1 DCXR SCN5A CHKB SLC16A1 PDK3 RRM2B PYROXD1 FKBP14 ATP5F1D TMTC3 MIEF2 MVK ADSS1 AGXT DGUOK NEFL KBTBD13 HACD1 VMA21 ALG14 MATR3 PRDM16 AIFM1 PSEN1 KY TBCD DPAGT1 NEBL TRAPPC2L MT-TN ISCU SLC52A2 QRSL1 PIK3R5 BAZ1B DHX16 NEXN OCRL COA7 TOR1AIP1 BVES GIPC1 MYH14 RBM20 DPM1 PEX6 SLC25A4 SVIL HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY CLIP2 JAK2 NODAL NFIX PROC PCSK9 MT-CO3 PMS2 CALM1 ATXN7 HSD11B2 NFU1 IRF5 CYP11B2 DIS3L2 PARN LIPC HNF1A SEMA3A ENPP1 RAD21 HNF4A KANSL1 RYR1 PLN TGFBR1 STAT4 F8 PRKAR1A TOP3A GDF1 PIK3R2 MT-TK CTNNB1 SLC29A3 IL23R PIEZO1 ABCC8 MT-TE TSPYL1 CBS GSN SMAD3 KCNJ5 GJA5 GPX4 PEX10 MECP2 WDR37 ABCC6 COL1A1 SFTPC ABCA1 MT-TV TANGO2 GFI1B FOXF1 CLCN2 FGG AKAP10 MLH3 PDE3A BRF1 LHX4 BRCC3 PROP1 TCAP GPC3 COX7B G6PC EGFR ADCY5 TERC GFM2 RARA ROBO4 GLB1 SOS1 GP1BB NKX2-5 MTO1 APP LIPT1 SDHD MEN1 F10 TSHR GNB5 BICC1 SDHA LAMC2 NPHP1 GAA XYLT2 HAAO BRAF SKIV2L POLG2 NEK8 ERCC8 TRAF7 MT-ND4 PTCH1 DLL1 ITGB3 HGD KIF20A HLA-DRB1 SERPINF2 GJA1 UQCRFS1 CSRP3 PTPN11 NDUFS2 KCNQ1 COG7 CYP24A1 PRKAG2 DZIP1 PCCB TGFB2 LARS2 TMEM70 KCNJ2 BAP1 WT1 DVL3 STAT2 DPH1 MLX ENG TET2 TNNT2 SCN5A CISD2 AIP PDE8B GMPPA HSPG2 KCND3 CASQ2 NABP1 SCNN1A TTC37 CDC73 COL4A1 TBX20 CFHR1 TSC2 RYR2 SLC30A10 MT-TF MYH7 PDE11A MYPN CRKL BUB3 TDGF1 GP1BA BSCL2 RTEL1 GLA ZNF365 MUC1 RB1 RAB23 RIT1 PIK3CA AGT BRCA2 C12orf57 B3GLCT PPP1CB CACNA1S BMPR1A PRKCSH IL12RB1 NONO HBB HESX1 SLC25A20 NR3C1 PKD1 HMBS ERAP1 CSF2RB FBP1 AKT3 NF2 XYLT1 TNNI3 F9 IFT172 GATA6 LIPA SERPING1 NDUFB8 KCNJ11 LAMB2 TTC7A ATP6V1E1 STOX1 THSD1 GLI2 RUNX1 ZEB2 MEFV B3GALT6 HLA-B NOD2 TNPO3 FGFR1 MCFD2 NRAS CACNA1H HCCS PRF1 TEK JPH2 FBXW11 F13A1 FGFR3 SLC12A3 KIT HPGD SURF1 PEX5 TMEM127 CAV1 RRAS2 SELENON CASR VPS35 STAT3 UFD1 TCIRG1 DDC COL4A2 SBDS ANKRD11 GREM1 CYP11B1 FAN1 TBX19 ATP11A TDP2 SDHAF2 GTF2IRD1 REN FBN1 PYGM ACAD8 ELN TMTC3 HEPHL1 GUCY1A1 SCN3B MT-TS2 SEMA3E PEX14 TGFBR3 DST F13B MAP2K2 HPS1 DYRK1A PRDM16 BCR ADAR THBD CDKN1B HADHB MRAS GNAQ MDM2 GCH1 CAV3 EYA4 ACVRL1 LMNA FOXP1 ABCD4 PTGIS CDH2 BMPR2 MT-ND6 SARS2 SHOC2 TNFSF15 ACTC1 VHL CITED2 KYNU CAVIN1 SLC22A5 ALDOB LCAT IL12A-AS1 DPP9 ZIC3 TBX3 CBL MAP1B JMJD1C STN1 HCN4 IKZF1 ATP5F1A SPRY2 SAA1 LRP6 SLC7A7 PEX6 MT-ND1 NRXN1 GMPPB CHCHD2 SYNE2 LAMB3 RET FOXH1 KRAS SIX3 CYP17A1 DGUOK NEK9 CDKN2C WAS KLHL3 SMAD6 DNAJC19 GATAD1 CALM2 DZIP1L F5 SHH DSG2 CD46 SCN10A ACTG1 CUL3 PLP1 TRDN SGCG POR FOXE3 CDON MYL2 GDNF IFNG TGFB3 SCN2B COLQ MTX2 MAP2K1 PIGM KCNH2 WNK4 MYH6 DMPK PCGF2 ERMARD ITGA2B KCNE3 RNASEH2A UCP2 ISCU FGF8 COL4A5 FLI1 COX8A NUMA1 HJV LMNB1 ADA2 TOR1A PPARG FLT4 CPT2 AFF4 CYSLTR2 DCHS1 CALR FBLN5 MRAP EDA2R PLAU FIP1L1 MPL EBP MT-ATP6 SMAD4 BVES TGIF1 PIGU IDS IVD NDUFB10 ATP7A MC4R SLC25A4 STAT1 SCN1B SALL4 DSG1 STRADA HBA1 FBN2 MOG KCNE2 ABCG5 KCNJ1 TTPA STAT5B SNTA1 CPT1A PPA2 SLC19A2 MLXIPL HFE CFI SCN9A AGGF1 PRKACA AGTR1 ALX4 TP53 CDH23 PTPN22 PEX1 GBA ABCA3 CACNA1D ATP6V1A GATA5 RPS19 SPARC YY1AP1 PTEN NDUFB11 MT-ND2 BCOR MT-CO1 SLC35A1 LIMS2 SLC17A5 COQ2 NPHP3 TSC1 LMX1B TMEM67 MT-TC EIF2AK4 MAFB DAXX PEX13 COL3A1 CREBBP IL10RA SERPINC1 AGXT WASHC5 KIF1B LTBP2 CEP290 IL12A KCNJ18 CTSH TNNI3K UBE2A COL1A2 SLMAP NR2F2 ADAMTSL2 NNT RNASEH1 SMARCAL1 ARL6 LOX SCO1 RNASEH2C DNAL1 COL5A1 ALMS1 LRRK2 CACNA2D1 CRYAB COQ7 FLT1 TERT IFIH1 MTFMT MTTP TTN RPGRIP1L POMT2 STX3 MAT2A TBX1 SDHB C3 GNPTAB NOTCH1 TBX5 FXN PMM2 PEX7 MRPS14 PRDM5 SPIB NDUFAF1 AAAS DYRK1B BNC2 MMEL1 GPC4 FOXC2 MT-TQ NDUFAF3 GDAP1 TRIM32 MYC PSMD12 FZD4 FGB WNT4 MT-TW MFAP5 CTCF TTR HABP2 ANK2 SUFU WNK1 FMR1 FGA HNRNPA1 SFTPB SRY APC TMEM260 SLC12A1 HTRA2 FLNC ARHGAP31 OSGEP MAP3K7 F2 PKHD1 GNAI2 CTLA4 SDHC NR3C2 CD2AP FOXA2 CCN2 POMT1 ACAD9 CCNQ NTRK1 IDUA PHF21A PNPLA2 TRPM4 SCNN1B NDP TCF4 MEF2A BCHE PPCS SLC37A4 VCP RRM2B WDPCP TLL1 TMEM43 CACNA1C SMAD9 CPOX TPM3 RASA2 SH2B1 FGD1 COL5A2 DSP THPO DNAJC13 CYB561 ELP1 DBH VPS33A GTPBP3 ACADVL B4GALT7 IL10 TJP2 BBS10 TAB2 RREB1 COL4A3 USP18 DISP1 CNBP CYP27A1 HIRA TNFRSF1A ZNF148 MYOZ2 CST3 ERCC4 PLIN1 MT-TL1 BEST1 SLCO2A1 LIFR COX5A LRP5 RAF1 GP9 LEMD3 CLCNKB SNAP29 PEX26 ABCC9 COG1 RPL5 POU3F4 SLC2A10 BMP2 EMD GANAB CASP10 ECE1 SCNN1G BBS7 POU6F2 MGME1 NF1 LDB3 MT-CO2 TBX2 MT-TH PLOD3 JUP FLNA MSH2 CRLF1 DLK1 TECRL DLL4 COX6B1 SF3B1 CC2D2A ARSA COL4A4 KRIT1 SLC25A11 ALDH18A1 TGFBR2 STAR MT-CYB LEP GNAS SMC3 MGP ACTA1 CACNB2 BBS1 ADA EFEMP2 CEP19 SAMD9 BGN MKKS MEG3 FBXL4 BBS4 PEX16 ZMPSTE24 PAM16 EXT2 CEP57 GPR35 GDF2 BANF1 MMUT ZIC2 CCND1 BBS12 CCM2 PLCG2 DNMT3A LMBRD1 TMEM237 NEK1 ELAC2 PMS1 KAT6A POLG CHRNA3 SREBF1 MKS1 NSMCE2 RANBP2 INS PLOD1 MYD88 IKBKG HNRNPA2B1 GIGYF2 RPS20 STK11 LZTR1 FAM13A SH2B3 STING1 DYSF KCTD1 PHYH DMD MT-ND5 DLD FCGR2C MAPRE2 SYNE1 PDCD10 KCNN4 GYG1 OFD1 GAS1 CYP11A1 SUGCT PUF60 CDKN1A WNT5A DHPS KDM6A RMRP PROS1 PRKG1 BTNL2 CCDC22 NOTCH2 MMACHC ACP5 EOGT IFT27 THOC2 KRT18 SP110 NUP155 PLD1 NDE1 DSE SLC25A13 THOC6 GNPTG ITGA8 BRAT1 MSH6 CLDN1 EP300 MT-ATP8 TBL1XR1 BPTF EPCAM TBL2 IGFBP7 DNM2 GABRA3 CYP3A5 CLCF1 CFH MYH11 POU2AF1 LAMP2 GGCX UBAC2 FN1 TREX1 ACTB VAC14 LIMK1 SHPK AKT1 ALPK3 CORIN DCAF17 SPECC1L FMO3 IRAK1 ITGA2 GBE1 SNX10 C4A NPPA GALC CYP7B1 PHOX2B WRN CCND2 PEX12 F7 HLA-DQB1 NT5E NCAPG2 VWF WIPF1 GLUL COMT HRAS MYBPC3 HADH ANKS6 TNFSF4 MADD CCR1 ACE MED25 GNA11 NAA10 GLIS3 ABCG8 AKAP9 WIPI2 DDX58 BBS9 PRTN3 CRELD1 CAPN5 IQCB1 D2HGDH XK SLC25A24 HLA-DPA1 SCN4B RNF213 ACADM SGCD XPNPEP3 FHL1 CLIC2 TXNRD2 DVL1 NEXN DES LDLR RRAS DLST LBR KRT8 FOS CSF2RA MRPL12 STRA6 EPG5 SCARB2 COQ9 WAC ATP6V0A2 WDR35 PLVAP SDCCAG8 TTC8 EDA APOA1 ERCC6 DNAJB11 KIAA0319L GPD1L GCDH EPAS1 MUC5B SIM1 FLAD1 MAPK1 TNFSF11 ITCH ADK TRIM28 FAS CD55 SRSF2 RFC2 ATOH7 CYP21A2 RPS6KA3 TUBB NLRC4 PLEC HSD3B2 USP8 ASXL1 PSEN2 KCNA5 HMCN1 ALG10B PDGFB ADD1 SON ADAMTSL4 MT-ND4L FGFR2 NAGS PET100 DPP6 REST SCN4A MCTP2 TNXB KCNMB1 GATA2 EIF4G1 CCR6 NOTCH2NLC ZNF469 APOE MAX MVK HELLPAR LPL HSD3B7 CFHR3 AVPR2 SMO KIF23 RSPRY1 ABCA12 CHST3 STX16 TPM1 MYSM1 ACTN4 MMP2 HADHA KCNK3 RHBDF2 LDLRAP1 SARDH NOS3 MYMK INF2 CCDC28B NKX2-1 MLH1 AGPAT2 TPI1 NEDD4L MMP14 ACTN2 VCL STAG2 MDH2 ARVCF CIZ1 LMAN1 PDSS1 KCNE1 BAZ1B COQ4 KLRC4 WFS1 LAMA2 FKTN SEMA4A MYL3 NFKB2 PEX2 IRF2BP2 PDGFRA RNASEH2B BUB1B TRIP4 CALM3 ARFGEF2 PEX19 SMARCE1 PKP2 FARSB TRAF3IP1 SAMHD1 SKI PCCA HBA2 B2M APRT PDX1 SEC24C RBPJ PSMB8 CYP26C1 NEU1 GTF2I PML IL12B SGO1 SMC1A AGA SMARCB1 MYLK SOS2 ARMC5 DCTN1 TRIM37 SLC4A1 INPP5E RBBP8 SDHAF1 TNFRSF11B C8orf37 P2RY11 FAH CNTNAP2 TRIP13 SLC40A1 HCRT GCK GATA4 MTHFR DTNA INVS SNIP1 ALB NOTCH3 PKD2 F11 FSHR MC2R FUZ MYL4 PEX11B SFTPA1 FKRP SLC25A3 CTNS MTRR PSAP DOCK8 PDE4D EHMT1 TWNK CDKN2B BBIP1 PIGA HTRA1 CFTR RPL27 RS1 ANGPTL6 POLR3A KCNJ8 ACTA2 TAZ GNB3 MYCN MYH9 AMER1 CD109 MYO5B SNCA SLC25A26 MAN2B1 WDR19 TRPC6 TNNC1 LAMA3 RANGRF AQP2 KCNE5 CSGALNACT1 PIK3C2A RNF135 PPOX NPM1 LYZ HPSE2 ZBTB16 LZTFL1 SPP1 SFTPA2 CTC1 TPM2 CTNNA3 TKFC POU1F1 BUB1 BAG3 HEXB ARF1 FH LRIG2 SERPINE1 TBCK NKAP COLGALT1 RAB3GAP2 A2ML1 ADAMTS10 NOS1AP GPR101 SOX5 CEP164 PIGN CHD7 NEUROG3 SOX10 CFB H19 ESCO2 MTM1 NDUFAF6 DCDC2 TNFRSF11A PGM1 ATRX HAMP ROR2 IRX5 MED12 ALPL ACAT1 VANGL1 MST1 RASA1 HDAC4 SERPINA6 RNF125 DDX6 COPA FKBP14 FIG4 BBS5 RTL1 TF ABCB6 APOB CLCN7 TLR4 CDC42 RNF168 PSEN1 DOCK6 PEX3 G6PC3 HMGCL NPHP4 TBX4 SOX3 SEC63 PAX8 HLA-DPB1 RBM20 MT-ND3 LEPR DSC2 MYLK2 OTX2 FAT4 CP BBS2 SCO2 SVIL HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA DHX37 GATA4 IRF6 B3GLCT CYP17A1 WT1 CYP11B1 GLI3 SOX9 PAX3 NR5A1 ZFPM2 CYB5A SRY WNT4 NR0B1 MAP3K1 VAMP7 DMRT3 PPP2R1A WWOX POR HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY RAD51D DHH PALB2 COX7B PTEN WNT4 BRIP1 RAD51 DCAF17 RAD51C CHEK2 NDUFB11 FANCB KIF7 WT1 BARD1 HCCS WNT3 TP53 PLG HYLS1 NBN BRCA1 AR BRCA2 MRE11 RAD50 HP_ABNORMALITY_OF_BLOOD_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_CIRCULATION PROC CYP11A1 PUF60 CDKN1A CD46 TBX1 SMARCE1 JAK2 SMAD4 PRKG1 PMS2 STAT3 STAT5B KRAS GNAQ CYP11B2 VHL APP MMACHC EOGT ACTC1 ABCC6 NOTCH1 KANSL1 CYP11B1 AGGF1 STAT4 F8 PDCD10 PDX1 SEC24C CFI RBPJ IL23R SP110 CYP26C1 SPARC PML TSC2 CBS FGG PTEN SMAD3 NDE1 SLC25A13 ENG THOC6 BCOR MSH6 SLC35A1 TBL1XR1 GFI1B SMARCB1 FBN1 MYLK EPCAM MLH3 BRCC3 VWF DNM2 RARA GP1BB COL4A1 ARHGAP31 F10 DAXX KCNJ5 COL3A1 GGCX UBAC2 IL10RA XYLT2 TREX1 KIF1B FGA MFAP5 FAH AKT1 ITGB3 GCK SLC25A11 SERPINF2 IL12A ENPP1 NOTCH3 TGFB2 ITGA2 C4A BAP1 ATP7A F11 FSHR STAT2 CYP7B1 BMPR1A STX3 TRAF7 F7 MAT2A SDHB CISD2 NABP1 PMM2 CTNS WIPF1 F5 TBX20 COMT CCR1 DOCK8 F13A1 CITED2 PRKAR1A CDKN2B MYC GP1BA FZD4 FGB ZEB2 CTCF RB1 RS1 PRTN3 ANGPTL6 SUFU WAS CAPN5 ITGA2B TERT PRKCSH F2 APC ATP6V1A ERAP1 MAX CD109 MYO5B NF2 XYLT1 F9 RET ERCC8 SDHD HLA-DPA1 CACNA1D TTC7A SDHC THSD1 CTLA4 HLA-B DLST LBR TGFB3 TLL1 MEFV TGFBR1 LOX TET2 MCFD2 PTPN22 SDHA ATP6V1E1 ATP6V0A2 PLVAP PRF1 TEK AQP2 NDP KIT LMNA STK11 NPM1 HPGD TMEM127 NKX2-5 TERC ZBTB16 ERCC6 TGFBR2 GCDH EPAS1 CTC1 UFD1 FOXF1 ACTA2 ABCC8 MYH6 COL4A2 SBDS B2M GREM1 ACVRL1 FAN1 IL10 SDHAF2 FAS FH GP9 TSC1 RREB1 PKHD1 IKBKG USP18 GATA6 SERPINE1 ELN MYH11 ATOH7 HIRA TNFRSF1A TGFBR3 F13B COLGALT1 CST3 NLRC4 HPS1 CFH CDKN1B BEST1 ADA2 HSD3B2 SLCO2A1 HMCN1 LRP5 PDGFB GBA KCNJ11 PET100 CASP10 TNXB ACAD9 GATA2 CFHR1 NF1 APOE ATRX ALDOB IL12A-AS1 CTNNB1 PCCA GATA4 MVK JMJD1C HELLPAR MSH2 STN1 AVPR2 HSD3B7 IKZF1 SMO ALPL SLC7A7 KIF23 DLL4 SF3B1 FN1 KRIT1 RASA1 PROS1 CYP17A1 CDKN2C RHBDF2 DZIP1L CFHR3 SAMD9 COPA FOXE3 MEN1 GDNF IFNG ZMPSTE24 MLH1 GDF2 MMUT CCM2 PIK3CA TLR4 DNMT3A LMBRD1 MDH2 RNF168 ARVCF PMS1 SH2B3 DOCK6 SREBF1 NUMA1 RANBP2 LMAN1 CPT2 INS CYSLTR2 PLOD1 MYD88 SEC63 PLAU FIP1L1 MPL KLRC4 RPS20 WFS1 HLA-DPB1 GNA11 SEMA4A FCGR2C PCCB IVD IRF2BP2 PDGFRA HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION AP1B1 AP1S1 SLC7A7 IARS1 KIF23 BCS1L MMP1 HAMP COL7A1 HFE ALAS2 SCO2 PKLR TTC37 ATP7B HBB SPATA5 ATP6V0A2 CARD9 STEAP3 FOXP1 COG2 BMP2 TRNT1 HJV CP SLC30A10 TMPRSS6 SKIV2L TFR2 SLC30A2 SLC39A8 HP_ABNORMALITY_OF_IRON_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS KIF23 BCS1L HAMP HFE ALAS2 PKLR TTC37 HBB CARD9 STEAP3 FOXP1 BMP2 TRNT1 HJV CP SLC30A10 SKIV2L TFR2 COL7A1 HP_ABNORMALITY_OF_FLUID_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FLUID_REGULATION TP53 NOD2 WDR35 CLIP2 KIAA1549 CD28 UBR1 CYP11A1 STAT4 CDH11 CDKN1A BUB1B CD46 VEGFC CTNS PEX5 ACADM HBA1 KIAA1109 KCNQ2 SHANK3 ABCC9 HLA-DRB1 CFTR STAT3 KCNJ1 TSR2 GNAQ TCF3 BTNL2 FLT4 ARHGEF18 MMACHC GPC6 ACP5 CHRND ACTC1 ZNHIT3 ABCC6 SLC35C1 PSPH CALCRL HFE MRPS22 HBA2 AGGF1 B2M SUMF1 DNMT1 PRPH2 PRF1 PDX1 OCRL SCNN1G HDAC8 ALOX12B ADAMTS2 CFI SNRPN SLC29A3 IL23R F12 CTRC OTULIN ABCA3 PIEZO1 PLD1 KCTD1 NEU1 GTF2I PRPF31 TSC2 PTEN GSN EPHB4 ADA2 HYMAI PLCE1 SLC26A2 CLCNKB SLC25A13 NDN PRKCD COL1A1 SLC17A5 OVOL2 CYP4F22 RYR1 SOS2 CHD7 INPPL1 MECOM TNFRSF11B ASS1 PDSS2 TBL2 SPTB LMX1B ALG9 BMPER SLC4A1 NPHS1 EGFR SNX14 DDR2 CHRNA1 IGHM RAG2 SOS1 EPB41 SMC1A IL2RA CD244 ZFP57 ABCC8 TGFB1 POMGNT1 DYNC2H1 CTLA4 SLC34A1 COL8A2 MCEE PKLR FRMD4A DYNC2I2 UBAC2 RMRP LAMC2 GATC KIT BRAF PRKAG2 TREX1 ADA PLAA AVPR2 POLG2 LACC1 VAC14 GUSB LRRC8A CYP11B2 LIMK1 FGA ASL GCK DNASE1L3 RASGRP1 HGD KIF20A GJC2 IL12A FGG ALPK3 CBL ACSF3 SFTPB CYP24A1 ALB LBR SMS COL5A1 IRAK1 IL2RB MRAS DCHS1 DHCR7 SOX18 C4A RPS15A CLCNKA CAMTA1 FSHR KRT13 COQ8B TNFRSF1B CPS1 SMC3 IFT172 KRT2 GLA ALOXE3 RHO RECQL4 STX3 DNMT3B TNNT2 AIP ITGB4 GBA PTPN22 MAP2K1 GNPTAB SPINK5 PMM2 MIF NAXD PIGA EIF2AK3 NR0B1 FAT4 TBX20 MYPN MYBPC3 RAG1 PDE6G BCL2 CCR1 RPL11 GBE1 RPS19 BLNK FOXC2 TWNK MRPS16 DIS3L2 BUB3 ENPP1 SPINK1 ATN1 CDKN2B FGB PTH1R LEMD3 AHCY SCNN1A TRAF3 PEX2 RIT1 RPS10 ACTB PRTN3 AQP2 ENG KRAS GRIP1 TLR3 GATB SCNN1B ERCC5 CD247 APOE AKT1 PTPN14 ARL3 LTBP4 TICAM1 GLE1 TMEM260 ERAP1 MMAA RP9 SLC12A1 IDH3A MYO5B IL1RN FLNC GATM TNNI3 OCA2 CDC42 SERPING1 RPS24 OSGEP ALG12 BCKDHB HLA-DPA1 KLHL40 NSD1 RPS28 RB1 PRKAR1A TNFRSF1A SMCHD1 KCNJ11 IGLL1 RPL18 RRAS ZEB1 TLL1 NR3C2 MEFV ELN CTSA HLA-B NEB IFT80 NR2E3 DBT TRIP13 DUX4 ANTXR1 LAMA3 ACAD9 HNRNPK NRAS GRHL2 PLAGL1 RPL5 ADARB1 SCARB2 SLC35D1 ATP7B PLVAP KPTN CCN6 FECH KIF7 NRL CPT2 NFKBIL1 KNSTRN NAGA CD79A COL1A2 RAD21 EHHADH REEP6 KIF11 TCF4 CSGALNACT1 SDR9C7 APOA1 VPS33B UNC93B1 NDUFS4 PADI4 IL6 HPGD OTC LYZ NEUROG3 ATP6V0A4 IL7R POMP NKX2-5 SULT2B1 SPP1 TALDO1 KIAA0586 FCGR2A RRAS2 RASA2 FAS COG6 COL5A2 CARS2 F8 CCND1 ACAT1 DSP FLNB TET2 NAXE MAPK1 TGM1 MYH6 SGPL1 PTPN2 BUB1 MAGEL2 TEK SFTPC VSX1 ACTA1 SLC5A1 IL10 GTF2IRD1 CD55 PTPRO RLBP1 PRSS1 TSC1 COQ2 NEK9 DHDDS HLA-A LCT ACAD8 CD79B RPL35 RPL15 RFC2 GATA6 IL2RG RPL31 NR1H4 FRG1 VPS51 CDAN1 GATA2 HAVCR2 TUBB ANKRD55 LAMB2 ASAH1 CFH LPIN2 KIF1A PIK3CD CDKN1B COL2A1 NUP107 HSD3B2 USP8 ALG14 SLCO2A1 HADHB A2ML1 RNF13 GPR101 CASP10 COL11A1 RAF1 NLRP3 CACNA1A GATA1 PIGN TBK1 SETD5 RPL26 MFRP NIPAL4 NDUFAF6 BSND PTPN11 FOXG1 MED12L XPNPEP2 LMOD3 ATP1A2 RELN CA12 CCBE1 ANAPC1 SETD2 SLC40A1 UROS PSMB9 PRSS2 CITED2 CHRNG CYBC1 PHGDH RIN2 STX11 ALG1 IL12A-AS1 PCCA GATA4 MRPS28 IGSF3 MT-CYB SLC22A4 HELLPAR KLHL41 PRPF8 MAP2K2 FASLG RPL27 WNT7A MST1 GYPC CPN1 LIG4 TAPT1 PKHD1 ADAMTS3 FN1 RDH5 LAMB3 ABCA12 CDKN2C ACTN4 HADHA ANKH RPS17 RRM2B TRIP11 IKBKG NOS3 CDK5 DBH MMAB MMUT MPI EBP LIPN FIG4 ACTG1 PSMB4 MVK APC2 SCN1A NIPBL PIK3CA RPL35A BCKDHA MEN1 MYO1E RPS7 KMT2A BMP2 CCDC88A CEP57 GPR35 NPHS2 DYNC2I1 POLG LYST KLF1 TLR4 PLCG2 BMPR1A NEK1 ODC1 ARHGDIA SLC26A3 DOK7 KAT6A BCL6 TPRKB RPS26 RP1L1 IBA57 HMGCL AK2 PLEC RANBP2 INS RPS29 QRSL1 TMPRSS15 MYD88 BAZ1B KLRC4 SAMHD1 ANTXR2 FGFR3 ERBB3 HLA-DPB1 PAX2 LZTR1 LAMA2 PIK3R1 VHL SPTA1 ALG8 CHEK2 SMAD4 DYSF PRRT2 RPS27 MAPRE2 PCCB KCNN4 SCN4A IVD NDUFB10 CIITA MKKS RBM8A ITK SLC25A4 DCLRE1C HP_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYLOIDOSIS SLC7A7 CCND1 FGA LYZ MMP1 APOE OSMR NLRP3 CST3 COL7A1 GSN MEFV APP LIG4 TTR PRNP NLRP1 ITM2B IL31RA TNFRSF1A B2M RET PSEN2 APOA1 POLA1 SAA1 HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY MT-ND4 SLC37A4 TBC1D8B CRB2 SDHB HNF1B TP53RK ACSL4 ALMS1 EMP2 KCNJ1 CD96 FAS CFI EPAS1 NUP133 MMACHC AMMECR1 MT-ND1 ELP1 NUP205 SGPL1 GATA3 NUP107 WT1 STAT4 PGM3 OCRL MT-TK MME IL23R IL10 SDHAF2 ETFB PAX2 PTPRO FH MT-TE AVIL TMEM67 PLCE1 LMNB2 PKHD1 C1QC COL4A3 MAGI2 KIAA0586 MT-CO1 PRKCD ITGA3 WDR19 MT-TV MT-TS2 COQ6 PEX1 NPHP3 SDHD UMOD LAMB2 SLC7A7 LPIN2 NUP160 SOX18 CLCN5 LMX1B MT-ND5 CFHR5 SEC61A1 G6PC NPHS1 LIPT2 CASP10 NUP85 CLCNKB BSND KCNE5 MT-ND6 UBAC2 FN1 NPHP1 REN NUP93 FAH SDHA MT-TL1 DNASE1L3 MT-ATP6 RASGRP1 SLC25A11 NPHP4 IL12A NF1 INVS MT-TH CFH INF2 CDKN1C C4A SMARCAL1 NARS2 IL12A-AS1 LAGE3 CEP83 C3 COQ7 COQ8B FASLG ANLN SPRY2 ETFA APOE COL4A4 C1QB NIPBL ITGB4 MYOCD COQ2 RET WIPF1 TTC37 C1QA WAS ACTN4 MTRR VHL CCR1 WDR73 DZIP1L MT-TF JAG1 PIGQ ETFDH TMEM127 COPA IGF2 MT-CO3 GLA MUC1 TREX1 MT-ND2 MT-TQ OSTM1 PEX2 PRTN3 MYO1E CD81 MTX2 NEK8 NPHS2 APOL1 MT-TW ERAP1 MAX TLR4 DNMT3A SLC12A1 FOXP3 LMNA MDH2 COL7A1 ARHGDIA OSGEP HLA-DPA1 VPS33A TPRKB XPNPEP3 COL4A5 PLEC FOXC2 SCARB2 JAK1 SDHC TRPC6 CTLA4 CSPP1 DLST ZAP70 MEFV HLA-B CD2AP KLRC4 SLC12A3 MMP1 DHX16 PBX1 KCNQ1 KCNQ1OT1 HLA-DPB1 PTPN22 CEP290 MT-ND3 DGKE ADA MT-CO2 HNF4A KIF1B HP_ABNORMALITY_OF_RENAL_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENAL_EXCRETION THBD GALNT3 SLC12A1 C3 SLC34A1 ITPR3 CFH KCNJ1 HNF1A FAM20A CFHR1 BSND SLC25A20 CFB NPHP1 NPHP4 CTNS DZIP1L ACE CFI AVPR2 KCNJ10 APRT AGTR1 HLA-DRB1 IRF5 SLC5A2 PTPN22 SARS2 CD46 CCN2 MAGED2 CCR6 MUC1 REN CAV1 KCNJ5 TMEM67 PKHD1 CLDN10 CYP24A1 CASR CLCNKB DMP1 AQP2 IL6 PLVAP ENPP1 CLDN16 CLCNKA NPHP3 AGT ATP1A1 CFHR3 SLC12A3 HP_DECREASED_URINE_OUTPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINE_OUTPUT HLA-DRB1 IRF5 THBD CFHR1 CD46 SLC25A20 CCN2 CFB CCR6 C3 AGT REN CAV1 DZIP1L ACE CFH CFI CFHR3 PKHD1 APRT AGTR1 HP_ABNORMALITY_OF_RENAL_RESORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENAL_RESORPTION FAM20A CLCNKB FAH GALNT3 BCS1L CEP290 SLC12A3 HNF1B CTNS MT-TN OCRL SURF1 HNF4A COA8 HP_ABNORMALITY_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HELIX ALOXE3 PIGW TCF4 PLCB4 TBX1 GNB1 PGAP3 NIPBL PIGB SULT2B1 PEX5 HSPG2 XYLT2 EP300 CPOX FGFR3 DOCK7 FGFR2 TWIST1 RB1 RRAS2 PGAP2 NDP NRAS RASA2 PIGA KRAS SLC6A8 COMT BCOR SMC1A UFD1 BHLHA9 TGM1 AMER1 BRAF CREBBP NR2F1 GPC4 DIS3L2 DDX6 SEC24C ALOX12B PTPN11 IGF2 EFTUD2 ZNF462 LIPN FOXP2 PIGS PIGL SETBP1 GNAI3 RREB1 PEX2 SLC26A2 KIAA0586 BCL11A PIGY MAP2K1 HOXA2 ACBD5 SLC16A2 ZMPSTE24 TFAP2A MED12 LONP1 HIRA SEMA3E NF1 AFF2 VPS51 FBN2 PPP1CB PEX1 MAP2K2 CYP4F22 FRAS1 GPC3 CLIC2 TCTN3 SOS2 AMMECR1 PIGN A2ML1 NARS1 DYRK1A SOS1 RAF1 GP1BB CHD7 SPECC1L ZMIZ1 BMP2 ARVCF DACT1 NIPAL4 TAF1 FOXP1 PYCR2 CDH2 CPT2 ACTB RRAS CSPP1 PIGV PPP2R3C PIGO TASP1 RIT1 PBX1 SALL1 KCNQ1 KCNQ1OT1 KANSL1 TBX2 LZTR1 NAA10 EDN1 ADAMTSL2 RTTN CDKN1C NFIX SMS ABCA12 MRAS JMJD1C CBL EBF3 PAH MAP1B SPOP SDR9C7 LMNA HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT RPGRIP1L IL12A SPIB KIF3B IRF5 TNPO3 TNFSF15 TMEM67 CC2D2A LMNA LMBRD1 PEX5 MMEL1 INPP5E DZIP1L PEX1 IL12RB1 PKHD1 POU2AF1 JAG1 PEX2 HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION GATM CYP11A1 HSD11B2 TRDN ATP6V0A4 SCNN1B CTNS CACNA1C SCNN1A SCNN1G KCNQ1 STAR KCNJ1 SNTA1 SCN4A CYP17A1 CYP11B2 AIP KLHL3 RYR1 CYP11B1 KCNE1 LPIN1 FXYD2 NR3C1 OCRL SAMD9 USP8 CDH23 PIEZO1 CACNA1D KCNE2 MAGED2 SMAD4 CUL3 KCNJ5 SCN4B CACNA1S CLDN10 CLCNKB WNK1 SLC30A9 BMPR1A CALM1 ABCB6 CLCN2 KCNJ18 WNK4 HSD3B2 SCN5A KCNE3 SLC4A1 SLC12A1 GABRA3 NOS1AP KCNJ10 SLC26A3 CAV3 SLC34A1 KCNJ2 NDUFAF6 BSND TXNRD2 INSR CASR SLC2A1 SLC2A2 CA12 NR3C2 MRAP SLC12A3 CALM3 NNT INVS KCNH2 COL3A1 AKAP9 CALM2 CLCNKA EHHADH KCNN4 MC2R TP53 SCN10A ATP1A1 ANK2 HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL HESX1 ARMC5 LHX4 TRAF7 CYP11A1 TERT HSD3B2 USP8 PROP1 PRKAR1A NF2 SMARCE1 PDGFB STAR AIP CYP17A1 MEN1 DAXX TXNRD2 CDH23 POR POU1F1 CYP11B1 SOX3 MRAP NR3C1 AKT1 FOXA2 ATRX GLI2 NNT BAP1 MC2R SUFU GNAS PDE11A PIK3CA OTX2 NFKB2 SMARCB1 SMO HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH C1S SATB2 C1R DVL3 IRF6 EP300 UBR1 BMP4 CDH1 KCTD1 LRP6 MSX1 MESD RAB23 RIPK4 DLX4 WDR35 PLEKHM1 WNT10A TP63 ARHGAP29 OFD1 CREBBP DLG1 NECTIN1 RECQL4 HP_ABNORMALITY_OF_DENTAL_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_STRUCTURE ABL1 CLIP2 IFT43 UBR1 COL17A1 CDH11 ITGB6 AGA TBX1 IFT122 LRP6 LAMB3 AMELX FAM20A TRMT10A CEP152 ATR DLX3 RTEL1 B3GALT6 RBBP8 OCRL FAM20C SEC24C MYO7A CNNM4 CENPJ GTF2I ITGB4 PAX1 MMP20 AMTN TNFRSF11A EDAR THOC6 SEC23A COX4I2 LAMA3 WHRN GNAS CLDN1 PTCH2 USH2A EP300 TSC1 FGF10 BRF1 DSPP TBL2 FAM111A KRT14 DEAF1 ZMPSTE24 GLB1 GP1BB ADGRV1 COL1A2 PPP1R15B HERC2 PHEX NHP2 CREBBP LAMC2 CDH1 NF1 WNT10A SHOC2 SFRP4 PWAR1 ERCC1 VAC14 ERCC8 LIMK1 APC MPLKIP AIRE CLCN7 CCDC8 TINF2 CIB2 PLK4 CTC1 ALPL ENPP1 COL5A1 IFT52 DHCR7 CENPE NPAP1 CSTB TRAF3IP2 KIF7 DKC1 SNORD116-1 TNFSF11 KLK4 TBCE RECQL4 NOP10 SMOC2 FGFR2 PCNT TP63 POLR1C PLEC TERC EDARADD COMT IFIH1 HRAS PDZD7 MKRN3 SNORD115-1 PDE4D PCDH15 OFD1 GJA1 PTCH1 STIM1 RUNX2 COL1A1 PEPD WDR19 ODAPH LONP1 C12orf57 PPP1CB ERCC2 CA2 ESPN AKT1 GTF2H5 ATP6V1A NPM1 PEX1 SLC12A2 COL7A1 FERMT1 TCIRG1 TRIP11 NDUFB11 OBSL1 ROGDI KCNJ2 IL17F TTC7A PERP FLNB NDN LTBP3 GJB6 VDR NECTIN1 ELN ENAM PIK3C2A MMP1 CCN2 SEC24D ERCC6 SLC10A7 ATP6V1E1 ATP6V0A2 HCCS SLC29A3 SLC24A4 AMBN GJB2 SNRPN TMEM165 RELT CDH3 ERCC4 RNF113A PTDSS1 ZNF469 ALMS1 ELMO2 COG6 COL5A2 NECTIN4 ATRIP NUP133 UFD1 FLII SBDS MAPRE2 CYP27B1 WDR35 TERT TRPV3 RAI1 GTF2E2 GTF2IRD1 DNAJC21 CAV1 ORAI1 RREB1 IKBKG PTEN SMCHD1 DMP1 RFC2 SGMS2 LMNA RBM28 HIRA TGFB1 CDH23 LIFR FKBP10 USH1C PPIB LRP4 FAM83H SUFU SRP54 MMP13 ANAPC1 MBTPS2 CYP2R1 KRT5 CCR6 IQSEC2 CLEC7A NEK1 WDR72 FGFR3 COL3A1 WRAP53 MAGEL2 NTRK1 TRAIP JMJD1C PEX6 USH1G GALNT3 IFITM5 ERCC3 TRPS1 CRLF1 DDX59 NRAS STX16 ALDH3A2 PIK3R1 PORCN USB1 GALNS CTNND1 UROS EDA ACP4 FIG4 SLC13A5 IL17RC AP3B1 CUL7 PARN TARS1 CTSK KRAS ELANE COX7B IL17RA EFL1 ARVCF FGF23 PWRN1 RHOA SERPINH1 FGF3 TCOF1 HLA-DRB1 IRF5 ITGA6 BAZ1B GRHL2 POLR1D COL2A1 P4HB CLDN19 UBE3B HP_ABNORMALITY_OF_INCISOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_INCISOR_MORPHOLOGY KCNMA1 B3GLCT FGF10 BRF1 WNT10A DOCK3 CHSY1 FGFR2 DDX6 RLIM EP300 BPTF NHS KMT2E MYT1L DLX4 CREBBP TP63 PSMD12 TRMT1 CTCF ACTL6B IKBKG DLG1 NECTIN1 BCORL1 FBXW11 IRF6 COL11A1 BMP4 CDH1 SVBP TBC1D24 MED13 GRIA3 NTNG1 TCF20 GJA1 EVC2 PURA CCBE1 ACTL6A TANC2 NEK1 FGFR3 KCNK9 EVC DYNC2LI1 WDFY3 GLI1 ARHGAP29 ZMIZ1 TRAPPC4 FARS2 MSX1 VPS13B HP_ABNORMAL_NUMBER_OF_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_INCISORS TDGF1 NODAL ZIC2 SHH CDON FGFR1 STAG2 DLL1 TP63 NHS DISP1 TGIF1 FOXH1 PTCH1 SIX3 EIF4A3 BCOR SMC1A DLX4 GAS1 DLG1 NECTIN1 ANKRD11 BMP4 EVC IRF6 FGF8 GLI2 MSX1 BLM SUFU B3GLCT DLX3 RIPK4 EVC2 CNOT1 CDH1 NAA10 EDA NEK1 ARHGAP29 HP_CONICAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_INCISOR B3GLCT FGF10 NEK1 IRF6 FGFR3 BMP4 CDH1 WNT10A DLX4 EVC DYNC2LI1 FGFR2 TP63 GLI1 ARHGAP29 EVC2 IKBKG MSX1 DLG1 NECTIN1 CCBE1 HP_INCREASED_NUMBER_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_NUMBER_OF_TEETH EXT1 RUNX2 PUF60 APC ADAMTS3 C2CD3 HSPG2 TRPS1 TP63 AMMECR1 WNT5A ACSL4 NHS DDX59 MSX1 BCOR ROR2 NXN FAT4 KCNE5 PIGL CREBBP ATP6V1B2 DYRK1A DVL3 DYNC2LI1 MSX2 CCBE1 NECTIN1 IL11RA FGF3 DVL1 IRF6 KCNN3 KCNH1 DHCR7 FZD2 EP300 CAMTA1 OFD1 RPS23 RECQL4 HP_ABNORMALITY_OF_DENTAL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_COLOR NRAS GALNS KRAS UROS WHRN SLC13A5 COL17A1 CNNM4 RELT AMBN ITGB6 PDZD7 FAM20A USH2A ITGB4 ENAM GLB1 HRAS ALMS1 MYO7A ROGDI ADGRV1 HP_ABNORMALITY_OF_CANINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CANINE KDM1A APC FGF3 CHSY1 DDX59 HP_IMPACTED_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPACTED_TOOTH HOXD13 SH3BP2 FLNA ZMPSTE24 LMNA CDH11 HP_INCISOR_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCISOR_MACRODONTIA KCNMA1 FBXW11 BRF1 COL11A1 SVBP DOCK3 TBC1D24 DDX6 MED13 RLIM GRIA3 NTNG1 TCF20 BPTF GJA1 PURA CTCF ACTL6A TANC2 KMT2E MYT1L KCNK9 WDFY3 PSMD12 TRMT1 ZMIZ1 ACTL6B TRAPPC4 FARS2 VPS13B BCORL1 HP_OVERBITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERBITE SPART EP300 ALKBH8 ACP4 SIX1 RIC1 EYA1 HP_PERIPHERAL_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_DEMYELINATION MPZ SBF2 CTDP1 MT-ND4 PMP22 KIF1C MT-TW MAT1A PRX UBTF MT-ND1 TYROBP MOCS1 ARHGEF10 GDAP1 PRPS1 TPRKB PSAP GALC FA2H NDUFAF4 MMACHC LMNB1 NDRG1 LITAF SOX10 MT-ND5 SUMF1 MT-ND6 FGD4 ARSA MT-TL1 EGR2 MT-ATP6 PLP1 MT-ND2 HK1 DNM2 MOCS2 NEFL MT-ND3 FLVCR1 GCDH LRPPRC COQ7 MT-TV SH3TC2 SURF1 MT-TK MTTP ABCA1 HP_EPILEPTIC_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_SPASM DCPS IQSEC1 MT-ND4 FBLN1 STRADA PHACTR1 COX4I1 LONP1 MBOAT7 KCNQ2 GCDH C12orf4 SPATA5 KCNA1 BTD GRIN1 CLIP1 MMACHC VPS53 ZNHIT3 MAPK1 TSEN15 HIBCH MBD5 PIGQ PAFAH1B1 ZMYND11 NDST1 NTNG1 SIK1 SLC25A10 ARX MED23 ALG13 SEPSECS TAOK1 SCN2A CRBN SETBP1 MYT1L CSNK2B GRIN2B FRRS1L SLC25A22 NTRK2 CACNG2 PRSS12 ST3GAL3 ASH1L MT-TV CRADD GUF1 PNKP ASAH1 TSC1 CAMK2B KIF1A CDKL5 DEAF1 FMN2 PLCB1 WASHC4 RNF13 MT-ND1 SLC45A1 NGLY1 BRSK2 TSEN2 PIGA APC2 PSAT1 SCN8A WDR45 CDH2 TSEN54 FBXO31 MT-ND6 RNU4ATAC GAD1 GRIK2 SARS1 MT-TL1 METTL23 MT-ATP6 SCN1B EPB41L1 CDK19 FOXG1 SMARCA2 NEUROD2 CDH15 PURA DHX37 KDM5B DOCK8 SYNGAP1 MT-TK ZC3H14 RAB11A MED12L STXBP1 NSUN2 GRIN2A DMXL2 PTPN23 DOCK7 CC2D1A CLTC MECP2 SMC1A TSC2 PIGP HNMT EHMT1 TRIM8 HIVEP2 MED25 PPP3CA DYNC1H1 IFNG B3GALNT2 UGDH TRPM3 TUSC3 PGAP1 ACTL6B SLC1A4 MT-ND2 PDHA1 TUBA8 MAN1B1 TNIK EZR EDC3 CLCN4 LINS1 DCX LMAN2L MFF GNAO1 KCNQ5 CAMK2A AIMP1 MT-TW PHGDH NDUFAF8 KIRREL3 SLC35A2 GABBR2 EEF1A2 CNPY3 TRAPPC9 ADGRG1 CASK RALGAPA1 TSEN34 SET RSRC1 MT-ND5 SPTAN1 SLC19A3 CIC DHX16 SRPX2 TECR HK1 CUX1 PI4KA CHAMP1 TANGO2 MT-ND3 PIGC TRAPPC12 TCF4 HP_SPEECH_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_APRAXIA FRRS1L GRIN2A DOCK3 PACS1 DDX6 RLIM CHD3 SLC25A15 CHD1 BPTF SRPX2 USP7 TRAPPC11 RAI1 KDM6B KMT2E MYT1L PSMD12 MAPT TRMT1 KANSL1 ACTL6B STUB1 GALT BCORL1 FBXW11 DLAT SVBP MED13 FOXP2 NTNG1 TCF20 SPART PURA GALK1 FOXP1 ACTL6A TANC2 WDFY3 EBF3 ZMIZ1 TRAPPC4 NONO RNF135 HP_INTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_ATRESIA CHRM3 TGIF1 ERGIC1 ITGB4 ZIC2 SHH BUB1B FGFR1 STAG2 GLI2 MIR17HG SPINK5 GAS1 SIN3A RFX6 RFWD3 FGF8 SIX3 CHD7 FLI1 PIGN TTC7A FOXF1 RAD51C CDON TDGF1 BUB1 KDM3B DIS3L2 BUB3 DISP1 TRIP13 FOXH1 SALL1 MYCN DLL1 RTTN PTCH1 PORCN NODAL ITGA6 CEP57 RERE FBN2 PPP1R12A SEMA3E CENPF DYRK1A SUFU TCTN3 HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY MYH6 HDAC4 IFIH1 NKX2-5 BUB3 WDPCP SMAD6 BUB1B MYLK2 TRIP13 CEP57 GATA5 PTPN11 CAV3 TAB2 MYH7 BUB1 FGFR1 NOTCH1 HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS MFAP5 TGFBR1 PDX1 LOX STX3 CYP11A1 HSD3B2 MAT2A GCK MYO5B TGFBR2 SMAD3 PRKG1 CTNS STAT3 FOXE3 TGFB2 CYP17A1 CYP11B2 ELN MYH11 KCNJ11 TGFB3 ACTA2 ABCC8 AQP2 FSHR INS AVPR2 CYP11B1 FBN1 MYLK SMAD4 HP_RECURRENT_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINUSITIS DNAAF5 CR2 RSPH1 MAGT1 DNAAF4 IVNS1ABP CD19 STXBP2 LRRC6 COL5A2 FCGR3A PRKCD DNAAF2 RNF168 DNAAF6 ALMS1 ICOS NCF4 TNFRSF13C CFI TNFRSF13B IL17RA RAC2 ACP5 MGP IL21R USB1 ADA2 DNAJB13 NEK10 CCDC65 CFAP298 DNAH5 PSMB8 MCIDAS DOCK8 SPAG1 NME8 SH3KBP1 CCDC114 LRBA GAS2L2 COL5A1 RSPH4A HYDIN ZMYND10 NFKB2 DNAI2 IGHM MDM4 ARMC4 UNC119 HP_CHRONIC_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_SINUSITIS NME8 SPAG1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 FOXJ1 DNAH5 TTC25 RSPH4A DNAAF5 DNAAF2 RNF168 CCDC151 ARMC4 DNAL1 DNAH11 MGP CCDC40 DNAH9 HYDIN CCDC114 TAPBP CCDC103 DNAI2 BLNK LRRC56 DRC1 DNAAF1 DNAH1 ZMYND10 CFAP221 CCNO RSPH9 DNAJB13 PGM3 DNAAF6 MCIDAS DNAI1 SPEF2 TAP1 CFAP298 LRRC6 CD79B OFD1 CCDC39 RSPH3 STK36 NEK10 CCDC65 DNAAF4 DNAAF3 TAP2 HP_RECURRENT_TONSILLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_TONSILLITIS SCNN1G BLM RIPK1 SCNN1A SCNN1B CYBC1 ELANE HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY ABCB4 RNASEH2B STAT1 ADAR ATP8B1 PSMB8 SP110 RASGRP1 IL6R RNASEH2A TREX1 CASP10 NFKBIA NR1H4 ABCB11 FAS MEFV SAMHD1 PRKCD RNASEH2C FADD IFIH1 FASLG POLA1 HP_ABNORMALITY_OF_THE_NASAL_DORSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_DORSUM RNASEH2B HSPA9 NODAL UBR1 SOX4 GLI3 BUB1B NALCN PROP1 PRMT7 RMRP SUZ12 FGFR3 SHANK3 ARID2 LMNA APC SAMHD1 ATRIP DISP1 CEP152 ATR RPGRIP1 NRAS PIGL CHRND ASXL1 COG4 SLC35C1 TGIF1 SIX3 POU1F1 KDF1 CREBBP CEP55 BUB1 FGFR2 CPLX1 RBBP8 NUP188 ITGA8 RPS19 CENPJ NSD2 DONSON PKHD1 TBCE ERF NHEJ1 HNRNPK WRN COL1A1 LIG4 EP300 SMC1A ALDH18A1 STAT5B TBX1 PRKAR1A ERCC4 B9D1 ERCC2 SHH PHGDH TMEM107 ADAR PDE4D LHX4 GLI2 BMPER IGF1 FGF20 CHRNA1 PSAT1 ZMPSTE24 ALX4 ALG9 SMARCE1 LRP4 CNOT3 STAG2 SNAP29 GHR RET ARID1B SMARCA4 PEX1 MKS1 COL3A1 SKI CDON C12orf57 NBN XRCC4 PTCH1 DLL1 HRAS MSL3 GAS1 HSPG2 RUNX2 CHRNG PTPN11 PLK4 GMNN PAX7 RNASEH2C CEP290 DNA2 CENPE TRAIP FGFR1 FOXH1 ZIC2 IFIH1 VPS13B PYCR1 LMBR1 ITCH TDGF1 PAX3 CENPT DMXL2 MN1 TMEM216 DPF2 ABCA12 TWIST1 HDAC6 TTC37 TMEM231 LETM1 FOXC1 COL11A2 POLR3A SLC2A10 GREB1L WDR73 DZIP1L EFEMP2 ASPH POLD1 CC2D2A PCNT SOX11 BUB3 TCTN2 EBP ATRX PEPD TREX1 ZEB2 NFKBIA SOST SMARCD1 RPL10 B9D2 KCNAB2 PRDM16 FBXL4 FGF8 IL2RA MBTPS2 GRIP1 CEP57 TFAP2B MTX2 ADAT3 BANF1 TCTN3 HESX1 SATB2 CANT1 MYH3 MAN2B1 AP4M1 RNASEH2A EDARADD EDAR TRAF6 CTBP1 SLC25A24 WDPCP SOX9 FGFRL1 TMEM67 METTL5 RPGRIP1L CSPP1 ARID1A PPP2R3C SOX3 EFNB1 GLB1 EDA2R GABRD FOXA2 PTF1A TRIP13 SMARCC2 TWIST2 OTX2 EDA KLHL7 COL1A2 MEIS2 SMARCB1 PEX12 CSGALNACT1 RERE ATP7A FAM20C TBL1XR1 HP_CONCAVE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NASAL_RIDGE FBXL4 CANT1 EBP DMXL2 IGF1 IL2RA FOXC1 ZEB2 KDF1 PEPD NFKBIA SOST SHANK3 STAT5B HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY LYST NOD2 ZAP70 RNASEH2B STAT1 JAK2 CD28 IFIH1 DDX41 MVK IL10RB GFI1 VEGFC DSG1 IL6R IL2RG TBX1 DSP PRMT7 PNPLA1 CTLA4 EPB42 FLI1 RAG2 SCN9A CFI SAMHD1 PTPN22 TCF3 NCKAP1L BTNL2 PAH FLT4 CHST14 MCCC2 KDF1 KANSL1 B2M STAT4 PRKACA LIG4 ASPRV1 RIPK1 PRF1 PSTPIP1 SEC24C ALOX12B TFRC RAC1 SLC29A3 NCSTN PTPRC IL23R PSMB8 SP110 OTULIN CD3D ALOXE3 IRF2BP2 HLA-C UBA1 MPDU1 DHCR7 TGFB1 GSN CIB1 MVD NSUN2 COX4I2 KRT14 XIAP IL31RA STAT3 SCNN1G CARD14 AGA GATA3 NLRP3 ATP2A2 CYP4F22 IL7R ABCB4 JAK3 CHD7 GPNMB NCF2 AUTS2 NFKB2 EGFR IGHM ATP8B1 OSMR GP1BB AIRE POU2AF1 IL17RA FOXN1 ADAM17 UBAC2 RMRP LAMC2 IL10RA ADA CTSB LACC1 KRT5 KRT10 LRRC8A FLG FLG2 MPLKIP DNASE1L3 IL4R MBTPS2 HLA-DRB1 GJC2 TRPM4 BRAF IL12A CCDC47 SMARCA2 CERS3 ENPP1 UBE2A FCGR2B MNX1 MEFV KRT1 HLCS RNASEH2C DCLRE1C IRAK1 TGM1 C4A FDPS BLM TNFRSF1B TRAF3IP2 EPOR CYP7B1 PKP1 TREX1 CIITA MTHFD1 RFXAP STX3 LBR FCGR2A AIP PAPSS2 SPINK5 ABCB11 CARD11 SPTB ABCA12 MIF WIPF1 NAXD SLC6A19 PIGA RFXANK CARMIL2 SPIB KIT COMT DSG4 RBP4 LHCGR RAG1 GJB2 CCR1 DOCK8 SLC17A9 SDHB PTPN3 MMEL1 BLNK SLC30A2 EPHX1 ERCC2 GNA11 PSENEN SHANK3 IL6ST USP8 CTSC PEPD AP1B1 HPGD IL36RN PGM3 FERMT3 PRTN3 LIPA POLR3A POLE WAS ERCC3 SCNN1B SUOX TJP2 BTD IL12RB1 GJB3 SIK3 GTF2H5 TNFAIP3 ERAP1 NCF1 COL7A1 BTK MYO5B IL1RN NIPAL4 CSTA HLA-DPA1 CYBB ANK1 TAF1 ERCC5 ACP5 IL17F PKHD1 TTC7A FOXC2 TRPV3 TNFRSF1A JAK1 IGLL1 KRT16 GJB4 RUNX1 GJB6 PMVK HLA-B IRF5 TNPO3 CD247 MMP1 TET2 BAAT SDHC FAM111B FH WNT4 LAMA3 EPG5 SDHA SLC4A1 LRRC32 ATP7B ELANE FECH KNSTRN IL7 CD79A MEIS2 NCF4 TCF4 MORC2 FOXP3 NFE2L2 SDR9C7 APOA1 TP63 HSPA9 SRP54 IL6 LYZ CASP8 TMC6 POMP RNF113A SULT2B1 SCNN1A SPP1 NR1H4 SH3PXD2B SPTA1 ZNF341 CARD9 CASR THPO UFD1 SBDS PDGFRA ESR1 ACADVL GTF2E2 IL10 FAS SCN10A DNAJC21 MS4A2 RREB1 IKBKG H6PD NFKB1 SRSF2 AQP5 CD79B MYD88 TBCK HIRA KRT9 RRAS2 RBCK1 NLRC4 XYLT1 BCL11B LPIN2 ADAR CYBC1 PIK3CD ECM1 HSD3B2 IVNS1ABP ASXL1 TGM5 SLCO2A1 IFNG CLEC7A PLA2G7 DSE GPR101 NSMCE3 RFX5 CD3E FOXP1 SMARCC2 CYBA NLRP12 SLC39A4 ZNF750 RNU4ATAC SCN11A CASP10 STAT5B SHOC2 TNFSF15 CCBE1 DCDC2 UROS PSMB9 MSMO1 NRAS PSEN1 SMARCAD1 KDSR STX11 IL12A-AS1 PIK3CA PCCA KRT17 CBL JMJD1C MRTFA HSD3B7 MST1 ADAMTS3 ERCC4 LAMB3 LSS SRD5A3 NEK9 HDAC4 GINS1 MPL EXTL3 GPC1 MYSM1 HLA-DQB1 NR3C1 TKT FGA EDA EBP LIPN PSMB4 CDSN IL17RC LMBRD1 HYOU1 AP3B1 CDK10 CACNA1G POR WDR1 ABCC6 CD3G LRBA IL2RA AP1S3 KIF11 TARS1 GPR35 FERMT1 FGFR2 MBL2 MC1R ITGB4 GJA1 TLR4 PLCG2 RNASEH2A EDARADD EDAR TMC8 TRAF6 EFL1 GATA1 ARVCF CDH23 SREBF1 FAT4 AK2 ADA2 C5 KLRC4 TEK MSN HLA-DPB1 PIK3R1 RTTN STING1 ITGA6 DNASE1 PCCB HLA-DRA TCIRG1 RBM8A HP_ABNORMALITY_OF_EPIDERMAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EPIDERMAL_MORPHOLOGY LIPN ALOX12B DSP ENPP1 IL7R GJA1 TGM1 MBTPS2 EXPH5 TGM5 EGFR ELOVL4 OSMR DSG1 IL1RN XYLT1 SERPINB8 RNF168 RASA1 LMNA CSTA NIPAL4 CARMIL2 GJB3 CASP14 ADAM17 WNT10A XYLT2 ATP2A2 HLA-B PPP2R3C AAGAB ALOXE3 ATP2C1 CERS3 NLRP1 SMARCAD1 CDSN KRT10 CYP26C1 GRHL2 CYP4F22 MPDU1 PKP1 IL36RN KDSR SAMHD1 ABCC6 KRT1 KRT6C ZMPSTE24 CHST8 JUP LRBA POGLUT1 IL2RA AKT1 DCAF17 CLDN1 SERPINB7 KIF11 KRT13 CARD14 CAST CIB1 SULT2B1 IKZF1 KRT2 HP_ABNORMALITY_OF_DERMAL_MELANOSOMES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES LYST RAB27A GPR143 AP3B1 MYO5A HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION MRE11 BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 RNF168 NSMCE3 PDGFB SMO HP_SYMPTOMATIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPTOMATIC_SEIZURES TBCE HADH VDR AKT2 GNAS MRAP TBX19 FAM111A ABCC8 CYP2R1 GLUD1 GCM2 STAR TNFRSF11A SLC16A1 POMC NNT STX16 TANGO2 INSR TXNRD2 CYP27B1 MC2R PROP1 GCK PCSK1 GATA3 POGZ HP_DIALEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIALEPTIC_SEIZURE KCNMA1 JRK UNC93B1 CLN8 SMPD1 ATXN10 GNB1 STRADA NEXMIF DMD ALMS1 RELN GDI1 KCNQ2 STX1B GABRA1 SPATA5 AP2M1 KCNA1 GRIN1 HCN1 EPM2A MBD5 PIGQ PAFAH1B1 ZMYND11 GABRG2 ARHGEF9 SIK1 EFHC1 NUBPL SETD1B ARHGEF6 CPA6 GABRB3 TBC1D24 TAOK1 CACNB4 RPS6KA3 POGZ SLC35A3 TGFB1 MYT1L CSNK2B GABRD CILK1 SCN2A DHFR GAL CACNG2 MTHFR PCDH19 GRIN2A PNPLA8 ASH1L PRRT2 DLG3 CEP85L SCN1A SCN9A PNKP CUX2 CLCN2 CAMK2B CHD2 FIG4 DEAF1 ADGRG1 SRPX2 SLC2A1 UPF3B SLC25A22 NGLY1 BRSK2 TBK1 SON USP9X IQSEC2 ALDH5A1 CDH2 SCN8A RNU4ATAC OPHN1 SETD2 SCN1B EPB41L1 SMARCA2 MED12 NEUROD2 CDH15 KCNT2 ACSF3 ACSL4 SATB2 GAMT KIF1A DOCK8 GOSR2 SYNGAP1 CRIPT CDKL5 RAB11A MED12L STXBP1 DPM3 KDM5B FMN2 NHLRC1 ASAH1 PIGT DOCK7 ZNF81 KCNQ3 CLTC PAK3 HNRNPK PIGP GLUD1 SLC12A5 VPS35L SYP MECP2 EHMT1 TRIM8 HIVEP2 MID2 CACNA1H PPP3CA DYNC1H1 TRPM3 SLC6A1 APC2 AGTR2 ZNF711 ZEB2 WAC VPS11 TRAF3 CNKSR2 SZT2 DMXL2 TLR3 CLCN4 PIGM RORB DNM1L ALG13 TSC1 GNAO1 GRIN2B FRRS1L KCNQ5 TICAM1 CAMK2A MAPK10 ZNF41 PHGDH KIRREL3 PTCHD1 CSTB TSPAN7 RAB39B ADGRV1 CACNA1D NSD1 SLC9A7 EEF1A2 FRMPD4 WDR26 CASK DYRK1A USP27X ARX SET CXorf56 LGI1 CIC MTOR DNM1 LAMA2 CUX1 CHAMP1 TANGO2 IL1RAPL1 FTSJ1 HCFC1 UBE3A NFKB2 TSC2 TCF4 GATAD2B MICAL1 DHDDS ATAD3A HP_TYPICAL_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPICAL_ABSENCE_SEIZURE GRIN2B CAMK2B KDM5B FRRS1L KCNQ5 GRIN1 DEAF1 CAMK2A JRK ADGRG1 KIRREL3 ASAH1 ALMS1 BRSK2 CLTC EEF1A2 HNRNPK DYRK1A MBD5 SET HIVEP2 ZMYND11 GABRG2 GABRB3 CACNA1H PPP3CA CIC DYNC1H1 TRPM3 TAOK1 GRIN2A EPB41L1 MYT1L CDH15 CSNK2B CUX1 WAC CHAMP1 SATB2 CACNG2 KIF1A ASH1L DOCK8 SYNGAP1 TCF4 RAB11A GABRA1 MED12L SLC2A1 STXBP1 HP_MYOCLONIC_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_ABSENCE_SEIZURE GRIN2A GABRB3 CACNA1H FRRS1L KCNMA1 JRK SETD1B SYNGAP1 GABRG2 GABRA1 DHDDS SLC2A1 HP_FOCAL_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MOTOR_SEIZURE TBC1D24 GRIN2B CAMK2B KDM5B FRRS1L KCNQ5 GRIN1 DEAF1 CAMK2A ATXN10 DMXL2 SRPX2 PCDH19 GABRG2 KIRREL3 HACE1 PTPN23 CACNA1A SDHD NGLY1 BRSK2 CLTC KCNQ2 EXTL3 GABRA1 CACNA1D KCNQ3 EEF1A2 BTD SDHAF1 AP3D1 SCN2A SCN1A PYCR2 SDHA SCN8A MBD5 KANSL1 SET PAFAH1B1 HIVEP2 ZMYND11 SCN1B ATP1A2 PRRT2 PPP3CA CIC DYNC1H1 STXBP1 TRPM3 TAOK1 SLC12A5 SIK1 GRIN2A EPB41L1 MYT1L CDH15 CSNK2B CUX1 PURA CHAMP1 SLC25A22 CACNG2 TMEM231 SDHB SMS KIF1A ASH1L CLCN4 DOCK8 SYNGAP1 CAMTA1 TCF4 RAB11A MED12L KCTD7 SCN9A HP_FOCAL_SENSORY_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SENSORY_SEIZURE RELN PRRT2 CNTN2 NHLRC1 SRPX2 EPM2A SCN1A ADGRG1 TREX1 MICAL1 CACNA1A ATP1A2 PI4KA LGI1 KCNA1 HP_FOCAL_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MYOCLONIC_SEIZURE EXTL3 SLC25A22 CACNA1D TMEM231 SDHB SDHAF1 SIK1 AP3D1 PYCR2 SDHA CAMTA1 HACE1 SDHD KCTD7 HP_FOCAL_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_TONIC_SEIZURE KCNQ2 SLC25A22 SCN8A KCNQ3 NGLY1 PURA SIK1 SCN2A PRRT2 CLCN4 HP_GENERALIZED_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CLONIC_SEIZURE SIK1 GNAO1 STXBP1 ARX PCDH19 SCN1B GABRA1 NEUROD2 SCN2A SLC25A22 ACSF3 KCNQ2 PSAP SCN1A KCNA1 DMXL2 PIGP KCNQ3 DPM2 CASK SCN8A CDKL5 TRIM8 PIGQ PNKP GABRG2 PRRT2 SCN9A HP_SIMPLE_FEBRILE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLE_FEBRILE_SEIZURE KCNQ2 SEPSECS SCN2A KCNQ3 CPLX1 TSEN15 SCN8A TSEN34 TSEN54 TBC1D24 WAC PRRT2 TSEN2 DYRK1A HP_COMPLEX_FEBRILE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLEX_FEBRILE_SEIZURE PRRT2 SCN1A STXBP1 PCDH19 SCN8A COG4 SCN1B GABRA1 SCN2A CACNA1A ATP1A2 GABRG2 SCN9A HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES DCPS NSUN2 IQSEC1 PIGG IQSEC2 GNB1 LONP1 PIGT MBOAT7 DOCK7 CC2D1A C12orf4 SPATA5 DAG1 CARS2 KCNA1 CLIP1 PIGP HNMT KANSL1 TRIM8 PIGQ NDST1 PRPS1 GABRG2 ARHGEF9 MED25 SIK1 SLC25A10 MED23 B3GALNT2 TUSC3 PGAP1 SCN1A CRBN PDHA1 COQ2 MAN1B1 SCN2A TNIK EZR FRRS1L MECP2 EDC3 GRIN2A SRPX2 PRSS12 DMXL2 GABRB3 CLCN4 LINS1 SCN1B CLTCL1 CRADD KCNQ3 LMAN2L PNKP CUX2 PPP3CA TBC1D24 ST3GAL5 GNAO1 CDKL5 PDSS2 FMN2 AIMP1 MAPK10 MED13L WASHC4 RNF13 PCDH19 SLC45A1 CACNA1A SLC25A22 ST3GAL3 SLC35A2 PSAT1 TRAPPC9 ADGRG1 CASK RSRC1 ATP1A2 FBXO31 MYD88 GRIK2 STXBP1 ARX SARS1 METTL23 CHD2 CPLX1 GABRA1 SYT1 ACTL6B TECR NEUROD2 KCNMA1 DNM1 KCNQ2 PI4KA FGF12 PRRT2 KDM5B UBE3A PIGC ZC3H14 KCTD7 SCN9A HP_EEG_WITH_FOCAL_SPIKES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKES SRPX2 PIGG ADGRG1 SYT1 PDSS2 PDHA1 LONP1 COQ2 PI4KA ARHGEF9 CLCN4 HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES SPATA5 DNM1 MAPK10 SCN1A CUX2 CHD2 GABRB3 HP_EEG_WITH_FOCAL_SHARP_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_WAVES TBC1D24 SCN1A PSAT1 SYT1 GRIN2A PRRT2 PDHA1 LONP1 SRPX2 CACNA1A ATP1A2 HP_EEG_WITH_FOCAL_SPIKE_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKE_WAVES GRIN2A TBC1D24 GABRG2 FRRS1L IQSEC2 DAG1 SRPX2 CPLX1 HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES SCN1A PRRT2 PDHA1 LONP1 PIGT CACNA1A ATP1A2 HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES NUS1 ARV1 GRIN2A PSEN1 CHD2 CHMP2B SQSTM1 CLTC GABRA2 TRAK1 SLC13A5 PIGY RNF13 NTRK2 MAPT CDKL5 GABRG2 FGF12 GRN TREM2 C9orf72 SLC1A2 AP2M1 VCP HCN1 CDK19 KCNB1 CYFIP2 WWOX SYNGAP1 UBA5 CACNA1B TMEM106B ATP6V1A GABRB2 CNKSR2 NECAP1 KCNA2 AARS1 PLP1 DALRD3 GRIN2D GABRA5 SLC6A1 EEF1A2 SCN3A SZT2 SCN8A PPP3CA UBE3A PARS2 CACNA1A STXBP1 AP3B2 ACTL6B KPTN CYP27A1 OCA2 DNM1 YWHAG DHDDS SYNJ1 HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY C9orf72 VCP MAPT PSEN1 CHMP2B SQSTM1 GRN TMEM106B TREM2 HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT PEX11B ITCH HES7 NID1 PEX12 ADSL IFT122 TMEM70 ZIC1 PIGA ERF CCDC22 PEX19 CYP27B1 MESP2 SMG9 PEX6 WDR73 EHMT1 WDR35 PLAGL1 CYP2R1 KAT6B PEX2 OCRL IFT43 IGF2 SETD1B SOX6 SUFU TBC1D24 WDR19 LEMD3 TBX6 MOGS UBE3A HYMAI PEX10 RNU4ATAC GLI3 NRAS RIPPLY2 SLC35A1 PEX16 KIF7 SLC34A3 TFAP2B PEX1 CTSK RPS23 DLL3 PHGDH SATB2 UBE3B OTUD6B AMER1 SNRPN NRXN1 PEX5 MAN2B1 PEX26 MAN1B1 WASHC5 PEX13 IFT52 PIGN ATP7A TAF1 PEX14 CNOT3 CNOT1 TOR1A RALGAPA1 ALX4 HRAS MCTP2 NOTCH2 VDR METTL23 CNTNAP2 RELN IFT81 PTCH1 KCNQ1 KCNQ1OT1 HK1 MYCN SH3PXD2B KRAS TWIST1 CDKN1C FLNA PEX3 LFNG OCA2 TUBB3 KIF11 MED12 PSAT1 FLNB INPPL1 DPM1 HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION WDR35 IFT43 LRP5 UNC80 GJA5 BUB1B COL11A1 CHD3 WNT5A FBN2 IFT122 BRCA1 LARS1 KCNJ1 ACOX1 ERF SKI CCDC22 MTOR MED13L GPC6 ACP5 CTNS TCF12 PREPL MBD5 TRPS1 OFD1 FGFR2 PAK1 B3GALT6 GJA8 CYP2R1 OCRL NSD1 TBC1D24 FMR1 SETBP1 PTEN PIK3R1 FANCM DSE HBA2 PPM1B SEC23A KIAA0586 FUCA1 PTCH2 CHD1 KYNU ALDH18A1 SLC3A1 B3GLCT MIR140 DLX3 SPTB ALG9 TRIM37 DEAF1 SNX14 MAN1B1 ALX1 XRCC2 EPB41 NXN NELFA POR DYNC2H1 CCDC8 DYNC2I2 PHEX MITF CTSK ORC1 DHCR24 MSX2 SATB2 OBSL1 PTDSS1 SPECC1L CNTNAP2 CLCN7 INTU CBL CKAP2L ATIC NFIX GMNN FZD2 SUFU RAD51 CRIPT DVL3 KIF7 NID1 AIP POLR1C MOCS1 NCAPG2 HDAC6 SIX6 TTC37 LETM1 TMEM216 ACAN FANCD2 HMGA2 POLR3A PDE4D TONSL KPTN NAA10 PTCH1 BUB3 RUNX2 P4HB B3GAT3 NTNG2 WDR19 PEX7 VANGL2 PIGL ZEB2 UPF3B ALX4 NFKBIA PIK3R2 FGFR3 COL1A1 KCNAB2 PIK3CA MAP2K1 POLE HBA1 MED12 KATNIP C12orf57 ERCC4 ANTXR1 SLC34A3 D2HGDH EFNB1 FGFR1 NONO RECQL4 HSD17B4 SIK3 SNX10 AMER1 ZIC1 MAN2B1 PAFAH1B1 TCIRG1 DICER1 DVL1 BRWD3 FANCC FLNB OPHN1 TRIP11 VDR FLNA GABRD SLC39A13 SPOP SPRTN DDX59 IFT80 PRMT7 TRIP13 AMACR MEN1 CUL7 SEC24D IGF2 UBE2T SOST PDHA1 MAD2L2 CWC27 UGP2 TCTN3 ATP6V0A2 KNSTRN EDA YWHAE INPPL1 PYCR1 SMARCD1 CSGALNACT1 RERE RPS6KA3 KRAS COX4I1 SIX2 EXTL3 APC CTBP1 B9D2 FLII CYP27B1 SLX4 COG4 MID1 BUB1 NALCN RAI1 LEMD3 ANKRD11 FANCB ITCH ADK MEGF8 BMPR1A FAM149B1 NSD2 GRIN1 MOCS2 CPLANE1 MAGEL2 PALB2 NRAS TGFB1 PDE6D ZNF148 GLI3 IFT140 DDR2 PIGN PIK3CD EDAR NRXN1 DENND5A LIFR FANCI KIAA0753 COX5A WASHC5 GPR101 NLRP3 COL1A2 CAMKMT SOX5 LRP4 TCF20 SON STAT3 LBR PTHLH SOX2 HOXD13 RAD51C CDH2 MMP2 IDUA SMOC1 MBTPS2 FANCE CHST3 RAB39B FBN1 IQSEC2 PURA ROR2 GK KIF22 STAG2 PLA2G6 NPR2 DLK1 MAP2K2 EDARADD GYPC INTS1 TBX15 RSPRY1 CRPPA SMC3 EBP BRIP1 BRAF IKBKG RNPC3 HBB DDX6 ARID2 BGN SLC26A2 POU1F1 CHRNA7 GJA1 MEG3 PEX5 PRDM16 NEU1 RTL1 MTHFR PAM16 CEP57 MTX2 ALPL DYNC2I1 FANCF TBCE PPP2R5D GNS PCGF2 KDM1A FH ALDH6A1 EP300 BRCA2 MPDZ IFT52 MADD TWIST1 KAT6A CDKN1C FLI1 CREBBP HERC1 HDAC4 HRAS CSPP1 TBX4 TCOF1 GLB1 EDA2R FANCL PLAG1 HK1 RFWD3 TRIO FANCG POLR1D SPTA1 HNRNPU FANCA GNE GATAD2B ATAD3A HP_SHORT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FACE POLR1C RUNX2 UBB GRHL3 TCOF1 POLR1D HP_PROMINENT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_FOREHEAD KDM1A UNC80 PUF60 CHD3 PRMT7 KIDINS220 SCYL2 RMRP SUZ12 WNT5A AP1S2 FARSB DLK1 FLNA KCNJ1 TTC37 ERF NAA10 USP9X MYT1L ASXL3 MED13L NRAS MID1 VPS33A NANS TRMT1 KDF1 ACTL6B CREBBP SUMF1 FBXW11 FLNB FOXC1 CDKN1C MED13 PIK3R1 ASXL1 ZSWIM6 ACTL6A TANC2 TRRAP ARX PURA ITGA3 FUCA1 ZBTB18 STAT3 NALCN ALDH18A1 STAT5B IFT140 RPS6KA3 MAN2B1 B3GLCT CDKL5 PMM2 B3GALT6 DPH1 DOCK3 FAM111A IGF1 DDX6 MYH3 SPECC1L PRKDC MED12 ADNP INPP5E KDM6B SON DYNC1H1 FOXP1 CNOT3 LBR COG4 CDH2 DVL3 GPAA1 SKIV2L GLE1 SETBP1 SMOC1 PTDSS1 SHOC2 SETD2 COL27A1 HRAS ADAT3 IFT81 NTNG1 TCF20 BRAF CHST3 FAM149B1 DVL1 IGF2 CKAP2L ATIC EXT2 NFIX PDGFRB FZD2 FAM50A LRP4 DHCR24 PLA2G6 NPR2 ZMIZ1 KIF7 PYCR1 LARP7 TAPT1 PLAG1 MN1 PITX2 MAB21L2 IARS2 KMT2E H19 GPC4 RAF1 MEG3 VPS35L SMG9 RTL1 EFEMP2 P4HTM COL2A1 SVBP SKI PKDCC ERMARD FBN1 B3GAT3 APC2 PIGL POU1F1 HECW2 UPF3B HERC1 WAC PEX5 SNX14 IL2RA PAM16 PIGK PEPD D2HGDH PPP1CB TBCE SATB2 PPP2R5D AMER1 CASK GNS HMGA2 RLIM EDARADD TRIP11 EDAR CDC42 MBTPS1 TRAF6 BPTF CCND2 NSD1 TAF1 SERPINH1 BRWD3 TTC7A PSMD12 CPT2 ABCC9 OPHN1 BCORL1 MTOR EP300 DPF2 PRKD1 SH3PXD2B GNE RYR1 KPTN LRPPRC SP7 WDFY3 EBF3 KIF11 TRAPPC4 ARNT2 POC1A HP_APLASIA_HYPOPLASIA_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID TWIST1 RNASEH2B ADAR SLC25A24 EDNRA DHODH POLR1C CDH11 FREM1 KRAS FREM2 TWIST2 ALX1 RNASEH2A TREX1 SF3B4 PHGDH CHD7 CCNQ ADNP FGFR1 POLR1D ESCO2 POLR1B KCTD1 RIPK4 SAMHD1 TXNL4A TCOF1 RNASEH2C FLI1 GRIP1 SEMA3E FRAS1 IFIH1 HP_HORIZONTAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_EYEBROW KCNAB2 PRDM16 GABRD INTS1 CNOT2 MED13L ADAM17 FOXP2 CDK19 SYT1 RALGAPA1 EGFR EBF3 SKI KCNK4 TRAPPC9 DEAF1 RERE HP_BROAD_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_EYEBROW MAN1B1 SPATA5 SON TRMT1 BPTF POLR3A RERE ZEB2 PYCR2 MAPK1 NEPRO MAF SLC35C1 CHD1 HERC1 SIN3A POLA1 HP_MICROTIA_THIRD_DEGREE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROTIA_THIRD_DEGREE ORC6 TWIST2 CDC6 CDC45 ORC1 CDT1 FANCB ORC4 GMNN TCTN3 HP_UNDERDEVELOPED_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_TRAGUS GLI2 KCTD1 EFTUD2 NUP188 KAT6A HP_ANISOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCYTOSIS KIF23 CASK GATA1 HBB G6PD TMPRSS6 UMPS RHAG TRNT1 NHLRC2 ACTN1 RPS14 CDAN1 GLRX5 PKLR CDIN1 HP_RECURRENT_MYCOBACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS NME8 ZAP70 SPAG1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 IFNGR2 DNAH5 TTC25 RSPH4A DNAAF5 IL12RB1 CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN DCLRE1C CCDC114 GATA2 DNAI2 TYK2 CYBB LRRC56 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 STAT1 CFAP298 LRRC6 DRC1 ISG15 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 IFNGR1 DNAAF4 DNAAF2 DNAAF3 HP_VASCULAR_SKIN_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_SKIN_ABNORMALITY LYST LIPN ABL1 NOD2 RNASEH2B CR2 PIGW PROC PPARG SOX4 GP1BA COL5A2 ELOVL4 FANCE ATP7A AGA TBX1 DSP SF3B4 SETX SMAD4 PROS1 KCNQ2 ARID2 PRKG1 LMNA STAT5B IRF5 SCN9A SAMHD1 XPC DDB2 ATR CHST14 RTEL1 ACP5 EOGT KRT10 MT-ND1 COL1A2 COL1A1 HFE NOTCH1 RAB27A TGFBR1 F8 PDCD10 PRKACA LIG4 B3GALT6 HDAC8 SEC24C ADAMTS2 ATRX SLC29A3 RBPJ PSMB8 F12 CD81 GBA NEU1 PML CBS NSDHL PTEN USF3 GSN SMAD3 CIB1 ENG HBA2 BCOR MT-CO1 PRKCD RAD21 BLOC1S3 EPHB2 FANCC BSCL2 SLC35A1 GNAQ FUCA1 NFIA NLRC4 JAK2 TBL1XR1 PDGFB GFI1B ALDH18A1 FBN1 MYLK C2 MT-ND5 CYLD KRT14 VWF DDR2 PIK3CA RARA GP1BB CFH MYH11 PLEC SMC1A LMX1B POU2AF1 MRE11 SDHD ITGB3 ARHGAP31 F10 POLE DAXX CTLA4 MT-ND6 GGCX ADAM17 TNFSF12 ACTA2 COG4 AKT1 UVSSA MASP1 COL3A1 FLT4 AKT3 KIT BRAF GATA1 TREX1 CTSB AGXT FASLG PTDSS1 MFAP5 F5 XRCC4 MS4A1 ANKRD26 MT-ND4 SLC20A2 KRT5 DNASE1L3 RASGRP1 KRT83 SERPINF2 MT-TL1 ENPP1 FTO MEFV C4A TGFB2 CTC1 NFKB1 RNASEH2C COL5A1 DHCR7 ITGA2 SOX18 RAC2 SNX10 BLM XPR1 TNFRSF1B SMC3 TRAF3IP2 DKC1 IFIH1 WRN KRT2 PKP1 GLA LARP7 RECQL4 F7 TNFRSF13C LBR TET2 MAT2A MAP2K1 SPINK5 DPF2 TERC GDF2 NABP1 PGAP2 WIPF1 GLUL PRDM5 CARMIL2 DTNBP1 SPIB CFHR1 COMT AIP DSG4 POLR3A WNT10A MMEL1 NLRP3 MT-TF F13A1 ERCC2 POLD1 RHOH FYB1 ATP2C1 PRKAR1A USP8 MT-CO3 PEPD NDUFS2 SLURP1 HPGD SMARCD1 DDX11 IL36RN PGM3 FERMT3 ALOXE3 AP1S1 PRTN3 KCNAB2 ETHE1 HBA1 WAS ERCC3 ITGA2B TERT ORAI1 ANTXR1 STXBP1 APOE IL12RB1 MYH9 GJB3 GNPTAB HOXA11 SIK3 F2 NSUN2 ATP6V1A NPM1 PCNA CD109 FAS FERMT1 AEBP1 SLC25A24 SERPING1 NDUFB11 CSTA HLA-DPA1 PDGFRB ERCC5 IL17F TBXA2R PERP TNFRSF1A XPA NFKB2 KRT16 ARID1A ARX GJB4 GJB6 HLA-B TGFB3 COL7A1 SDHB RNF113A FOS CTSA LOX STAG1 TNPO3 GABRD SLC39A13 TNFRSF13B MT-TW SLFN14 CCN2 NOP10 MCFD2 MTAP LORICRIN HPS3 PTPN22 SMARCC2 KDSR SCARB2 C1R C1S ATP6V1E1 ATP6V0A2 ERCC4 ATP7B HCCS PRF1 COG8 FECH GJB2 PDE11A IL7 NAGA SMARCB1 PYCR1 NBEAL2 TCF4 RERE POLA1 ALOX12B PGAP3 TMC6 EPHB4 ZBTB16 TRPM4 CAV1 CCR6 TGFBR2 KIAA0319L PPP1R15B TALDO1 HLA-DRB1 ELMO2 CDKN1B DOCK6 STAT3 UFD1 PIGL ARID1B VPS53 TCIRG1 HPS4 MAPK1 SEC23B KRT1 SBDS TRPV3 TNFSF11 TNXB ACVRL1 OCLN SCN10A GP9 MYORG RREB1 IKBKG USP18 AQP5 KLLN CALR SERPINE1 ELN GUCY1A1 ITGA3 HIRA KRT9 MT-TS2 HPS6 RPS6KA3 F13B SULT2B1 HPS1 ADAR GJA1 ADA2 TGM5 SLC37A4 DSE ERCC6 CASP10 SMARCE1 SETD5 PTPN11 SMARCA4 NLRP12 SLC39A4 BMPR2 XPNPEP2 SLC2A10 SKI SCN11A PIGV TGM1 PRKACG P2RY12 TNFSF15 ANAPC1 GATA2 MBTPS2 CAVIN1 ZNF469 MT-TH STIM1 RIN2 CLEC7A PLOD3 WRAP53 CLCN7 NTRK1 NHP2 MVK JMJD1C POLH STN1 CFHR3 IKZF1 MST1 IL12A CPN1 DLL4 MANBA CD28 ATM NIPBL FANCA EGFR SREBF1 KRIT1 RASA1 RUNX1 HLA-DQB1 GNAS NFIX MT-ND2 FLNA MT-ND4L NF1 EBP PORCN USB1 SOX11 SAMD9 FKBP14 GNA14 CDSN IL17RC MT-TQ JAM2 ARL6IP6 FOXE3 ABCC6 PRDM16 PIGY KMT2A PARN BMP2 IFNG ZMPSTE24 SDHC AGPAT2 GPR35 FRG1 TINF2 CCM2 ARMC5 PLCG2 COX7B IL17RA FOXP3 RNASEH2A TMC8 RNF168 ODC1 ARVCF PIGT CDH23 MT-CYB ADGRE2 LRP1 NUMA1 SLC52A2 LMAN1 HPS5 RNF213 PLOD1 PDSS1 PIGO MYD88 GLB1 PLAU FIP1L1 MPL FANCD2 ALPK1 ANTXR2 HLA-DPB1 ALDH3A2 GP6 MT-ATP6 STING1 CD19 ETV6 FCGR2C IRF2BP2 TFR2 MT-CO2 SH2B3 DPM1 PEX6 ICOS HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY NOD2 LCAT CLIP2 NDUFS4 WT1 CYP11A1 SUGCT TBC1D8B CDKN1A CRB2 CTNS GUCY2D PEX5 AGA TNFRSF11B GCSH IFT122 SCNN1G RMRP APRT HLA-DRB1 BRCA1 BCS1L HSD11B2 IDH2 NDUFV1 FAM20A ATP7B CFI ALK CYP11B2 BTNL2 PAH DIS3L2 XPC DDB2 NOTCH2 MMACHC IFT27 HNF4A PREPL KANSL1 RYR1 IDS GATA3 STAT4 NPHP3 PSTPIP1 HDAC8 ALOX12B KRT18 ARL3 OTC MT-TK HPRT1 IL23R MT-TE KCTD1 AVIL IFT172 TSC2 GSN FANCM KCNJ5 SLC25A13 THOC6 PPM1B ITGA8 KIAA0586 PIEZO1 HPSE2 DYNC2I1 FUCA1 EP300 MT-TV RPIA TBL1XR1 TANGO2 PHKA2 DCDC2 NLRP3 CYP4F22 SLC6A19 ASS1 PDSS2 EPG5 TBL2 MT-ND5 SLC19A2 SEC61A1 G6PC GABRA3 RARA GLB1 XRCC2 CFH TIMM50 STK11 SLCO1B1 TGFB1 F10 SLC34A1 MCEE TMEM237 KCNE5 MT-ND6 UBAC2 BICC1 RAD51C FN1 EYA1 LAMC2 SLC22A12 NPHP1 GAA XYLT2 NUP93 TREX1 KIF1B NDUFA1 TMEM67 AVPR2 CPS1 VAC14 GUSB ERCC8 LIMK1 SHPK ITGB3 DNASE1L3 HGD SLC25A11 NPHP4 MT-TL1 CORIN NNT NDUFS2 TRPS1 CYP24A1 PCCB ATAD3A FMO3 LAGE3 WDR73 YAP1 IRAK1 TMEM70 CPT2 ITGA2 PAX2 C4A ENPP1 BLM RAD51 SMC3 EFEMP2 STAT2 ANLN SLC1A1 CIITA HMGCL PLOD2 APOE NDUFAF1 C1QB CISD2 TTC21B MVK MOCS1 YWHAE NABP1 SCNN1A WIPF1 TTC37 FOXI1 NR0B1 CDC73 CTH CFHR1 FANCD2 HLCS HPD INS FGF23 MTHFR HADH GLUD1 ANKS6 CCR1 POLG ABCC8 ACADS MT-TF ACE MAPKBP1 GNA11 AUH SHANK3 SLC9A3R1 PRKAR1A CRKL SERAC1 CD320 EIF2AK3 TMEM216 GP1BA GLA ZFPM2 MUC1 SLC46A1 MT-ND2 SLC3A1 CEL FAN1 PFKM BBS9 SLC36A2 PRTN3 AQP2 MPC1 PAX6 L2HGDH FLVCR1 BRCA2 TRAIP PAFAH1B1 TNFRSF11A TP53 CACNA1S SLC34A3 IQCB1 PEPD D2HGDH LZTFL1 STX16 HBB SLC25A20 GNAS AMMECR1 PKD1 HMBS ERAP1 MMAA FBP1 OAT SERPINA1 XYLT1 GATM COL7A1 SLC25A4 MCCC1 HLA-DPA1 NDUFB8 ACADM NSD1 XPNPEP3 TXNRD2 FOXC2 FANCC SCARB2 NT5C3A SLC4A1 STOX1 SDHC HCFC1 GEMIN4 HLA-B DLST CLPB GLIS2 PGAM2 MEFV KRT8 ELN TRNT1 MT-TW MCFD2 WDR19 OCRL GATA6 PRPS1 ERCC4 WDR35 PLVAP MAD2L2 SDCCAG8 TTC8 KNSTRN CLDN16 PHYH CASR MAP3K1 COA8 SDR9C7 SLC12A3 RRM2B APOA1 VPS33B NDUFA11 KRAS SURF1 CPOX ATP6V0A4 COL2A1 TMEM127 IL7R ERCC6 NR5A1 HOXA13 DNAJB11 COX14 TTR TOP2A SUMF1 FCGR2A EMP2 TIMMDC1 ATP6V1B1 HNF1A MAFB GCDH FAS F8 NDUFS6 EPAS1 NUP133 STAT3 FLAD1 CYP27B1 SLX4 NUP107 BBS1 PGM3 TBC1D24 TRIM28 HIBCH SLC5A1 OCLN SDHAF2 GTF2IRD1 ETFB REN OPLAH HMGA2 TSC1 PC COQ2 ABCC2 DHDDS PYGM C1QC TPRKB DMP1 ACAD8 RFC2 PALB2 GLYCTK ITGA3 CYP21A2 IFT80 SLC6A20 MT-TS2 MCCC2 COQ6 HRAS GP1BB SIX5 XDH HPS1 LAMB2 GALT BCR LPIN2 PMM2 THBD SOX18 PIK3CD CDKN1B ADA2 HSD3B2 CFHR5 HADHB SLC37A4 MDM2 LRP2 TMEM138 CLCN5 ACVRL1 TMEM126B NDUFAF6 PRODH ABCD4 PEX1 NAGA PNP PET100 REST IDUA PTH1R KCNJ10 SDHA SARS2 SETD2 PDX1 MT-ATP6 UMOD FANCE CCR6 KYNU NDUFS3 TNXB ADAMTS13 NEUROD1 MAF GCM2 CD59 SUCLG1 ALDOB IL12A-AS1 GK NAGLU PGK1 LIN28B MAX GLDC HELLPAR INSR NDUFV2 NPHS1 CFHR3 IKZF1 UQCC2 SPRY2 CLCNKB SAA1 SDHD SLC7A7 ETFA DCXR GALNT3 MMUT ERCC3 DYNC2I2 ZNF592 MYOCD LAMB3 ITPR3 COL4A4 HSD17B10 RET NRAS CDKN2C WAS ACTN4 DNAJC19 ALDH4A1 HADHA OPA3 DZIP1L SARDH PIGA NOS3 ERCC5 FXYD2 MMAB INF2 NDUFS1 CD46 ATRX NDUFS8 AGXT BLVRA MT-TQ NIPBL GALK1 BCKDHA EHHADH GDNF LRIG2 NEU1 CEP120 CD81 UROC1 MTX2 ALPL CNNM2 NPHS2 FANCF PEX19 COL4A6 NDUFB9 ITGB4 ZNF423 STS NDUFAF4 MDH2 ERCC2 SDHB ISCU NDUFS7 GATA1 ACSF3 IER3IP1 DACT1 PHOX2B COL4A5 ETHE1 PLG NUMA1 LMAN1 ISL1 FARS2 CSPP1 SMAD4 SLC5A2 BAZ1B MRAP FIP1L1 KLRC4 LMNA FANCL WFS1 SALL1 LMO1 VHL TBX18 ABCC6 RMND1 CA2 TMEM231 ITGA6 ACADVL CA5A DGKE MOCOS TK2 DNASE1 CRPPA IVD NDUFB10 UMPS IRF2BP2 PHEX CLDN19 ADCY10 ZAP70 STAT1 IFT43 GCLC ATP5F1E IFIH1 CASK PCK1 ATP7A SUCLA2 SLC25A15 TP53RK TRAF3IP1 KCNJ1 STAT5B HAL PTPN22 IFT140 CPT1A CHST14 SLC16A1 HFE PCCA MT-ND1 MLXIPL SLC35C1 CYP11B1 AGGF1 B2M AGTR1 GALE MME CDKN1C GTF2I PML PLCE1 FBLN5 ENG CLDN10 MAGI2 BCOR MTR MT-CO1 PRKCD SLC35A1 SLC17A5 AGT DMRT3 ALAD CHD7 MIR140 ALG1 LMX1B CC2D2A SNX14 GSS PET117 RAG2 LHX1 INPP5E NUP85 KANK2 EGF COL4A1 NGLY1 SMC1A NDUFAF2 GATA4 MLYCD LMNB2 G6PD CREBBP PHKG2 ADA SGSH C8orf37 MT-ND3 APPL1 FAH WDR4 TRIP13 ASL LDHD GCK RASGRP1 CEP290 NDUFAF3 IL12A KCNJ18 INVS FCGR2B COL4A3 MNX1 SMARCAL1 GPC3 SCO1 CEP83 ASPA ALMS1 NDUFA6 PKD2 CLCNKA DMGDH BBIP1 COQ8B MC2R FUZ FLT1 TRAF3IP2 SIX1 RPGRIP1L ALOXE3 DPYD STX3 NBN FKRP PIGB C3 GBA DYNC2H1 GNPTAB PEX7 GNAS-AS1 RFXANK MRPS2 FOXRED1 VIPAS39 RAG1 KLF11 MTRR BNC2 EHMT1 C1QBP OFD1 ETFDH TRIM32 PKDCC CDKN2B MT-CO3 DYNC2LI1 MAGED2 LEMD3 GRHPR TAT SLC16A12 DHX37 MAPK1 POLR3A ITGA2B DSTYK NUBPL SUOX BTD TAZ MYCN BBS10 VAMP7 AHI1 SLC52A1 TMEM260 SOX9 CD109 DDOST SLC12A1 MYO5B HTRA2 SLC25A1 OSGEP BCKDHB FTCD SLC35A2 F2 ACP5 IL17F SLC7A9 MAN2B1 PUS3 JAK1 TRPC6 CTLA4 SLC25A21 CD2AP MMP1 PBX1 CCN2 DBT SLC25A19 KCNJ11 COG1 LAMA3 ACAD9 UBE2T CCNQ MT-ND4 PIGT RAD21 INPPL1 SCNN1B TCF4 BLK PIK3C2A FOXP3 PPOX PDP1 HSPA9 NPM1 MARS1 LYZ WDPCP ZBTB16 SULT2B1 SPP1 HNF1B ACSL4 SPINK5 COG6 CCND1 TGM1 CYB561 ELP1 VPS33A NUP205 SLITRK6 SGPL1 DHTKD1 SLCO1B3 FANCB LPIN1 AMT IL10 PTPRO FH GP9 CAV1 SERPINF2 PKHD1 MOCS2 MEN1 MICOS13 IL2RG DMD SLC30A9 OXCT1 NUP160 CDK4 ANO5 FANCI ARG1 CASP10 CAMKMT CFTR CEP164 SETD5 BTK NIPAL4 HMOX1 SNAP29 BSND MT-TT CFB MT-TN TCN2 ALDH5A1 HYAL1 H19 XPA SLC2A2 NDUFAF5 GANAB UROS BBS7 CYP2R1 POU6F2 NF1 CYBC1 SLC6A18 MT-TH NDUFB11 NDUFB3 CLEC7A IL6 COL3A1 NTRK1 MYH9 TP63 HOGA1 CHD4 PRDX1 STAR YY1AP1 ATP1A1 FASLG LDHA ACAT1 CHRM3 PHKA1 VANGL1 MST1 SH2B1 LIG4 MANBA ARL6 PYGL RASA1 IL2RB C1QA ATPAF2 GPC1 OGDH GPHN PAX4 RFX5 BRIP1 NADK2 DGUOK JAG1 GALNS TKT SAMD9 DBH COPA FGA LIPN ATP5F1D FIG4 APC2 IL17RC SRY LMBRD1 MKKS CD151 BBS5 AMN SLC4A4 MYO1E FBXL4 KMT2A BBS4 CBS PNPLA6 F5 NEK8 GPR35 GDF2 WASF1 APOL1 CUBN EXT1 SLC52A2 BBS12 GNS TLR4 DNMT3A IL17RA GYS2 MMADHC ARHGDIA CHRNA3 SREBF1 RFXAP SGCB MKS1 NSMCE2 HACE1 AGK ADNP DYRK1A MYD88 IRF5 MSN HGSNAT SLC26A1 HLA-DPB1 RFWD3 NDUFAF8 FANCG CAD FANCA DLD ABCA12 AP2S1 ARSB MT-CO2 BBS2 WWOX SCO2 SLC26A4 DCLRE1C HIC1 HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION ALPL CLIP2 TBL2 CLCN5 AMMECR1 CDKN1B CDKN1A ATP6V0A4 SLC12A1 GATM SLC34A1 CDC73 PIGT GCM2 FCGR2A CFTR HLA-DRB1 KCNJ1 TGFB1 ATP7B CDKN2C GNA11 BTNL2 NDUFAF6 CASR KCNJ5 SLC2A2 PHEX ELN MLXIPL PTH1R KCNJ10 BAZ1B LIMK1 FXYD2 OCRL CDKN2B CDKN1C ADCY10 MAGED2 GTF2IRD1 SLC34A3 GTF2I CLDN10 CYP24A1 MEN1 CLCNKB RFC2 FAM20A CLDN16 AP2S1 EHHADH INSR FGF23 CLDN19 PIK3C2A SLC12A3 HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION SDHD RET TMEM127 DBH SDHA MAX KIF1B SDHB SLC25A11 DNMT3A SDHAF2 FH MDH2 NF1 VHL LMO1 TOP2A MYCN PHOX2B ALK GDNF EPAS1 HACE1 LIN28B SDHC DLST HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY WDR35 KDM1A CLIP2 FKRP SOX4 MCOLN1 SYNE1 ARMC9 STT3A ERCC3 EVC AP4M1 FDXR TMEM240 ADGRG1 DLL1 SETX HHAT TINF2 SLC9A6 FGFR1 ZIC1 BCS1L ATXN7 NPHP3 BICD2 SASS6 KCNA1 CCDC22 TUBB THOC2 CYFIP2 USP45 B9D1 KANSL1 PIGQ CEP55 NODAL FGFR2 DNMT1 SIK1 BEAN1 TOP3A TBC1D20 HDAC8 ARL3 MT-TK RAC1 SEPSECS GBA2 XRCC1 SPART MT-TE PMPCB DHCR7 ABAT ASXL1 SPTBN2 B4GALNT1 POMT1 CTSD GPX4 MRM2 KATNIP RNU4ATAC KIAA0586 ERF WDR37 WHRN KIF7 ALG3 USH2A EP300 HEPACAM NFIA B3GALNT2 MYORG MSTO1 OFD1 TMEM107 SPTAN1 BRF1 EPG5 TBL2 POLG2 ALG9 GPC3 PAFAH1B1 TWNK GUCY2D ADPRS GFM2 TBC1D24 LMX1B RFWD3 ADGRV1 NELFA LIPT1 MRE11 GRID2 TXN2 DYNC1H1 MUSK COL18A1 TMEM237 SCN2A PMPCA DYNC2I2 ERCC5 MYO5A MKS1 SLC1A3 AKT1 CARS1 LAMA1 GOT2 GDF6 TMEM67 TSEN54 VAC14 RAB3GAP2 LIMK1 CLPB RELN TRPC3 GPAA1 GRIA3 GRM7 MBTPS2 SCN1B RPE65 AHI1 NFASC MAST1 FTO COG7 NDUFA1 DHX37 TSEN34 PSAT1 NARS2 SLC44A1 FGF12 SPECC1L ATAD3A LAGE3 ODC1 CARS2 SIL1 EBP POMGNT1 SMC3 IFT140 MARS2 STAT2 DPH1 PIGG CCDC88C KIF1C NOVA2 AIPL1 KCNC3 EPRS1 POMK MAF TUBB2B NCAPG2 IFT172 PIGA CHMP1A TMEM216 COL4A1 CEP104 UFM1 DYNC2H1 GPKOW RHOBTB2 PDZD7 HMGA2 FA2H POLG ATP13A2 PCYT1A PCDH15 SOD1 TUBGCP6 NRAS GMPPB TCTN1 DAB1 SHANK3 SERAC1 BUB3 TCTN2 ATN1 HDAC6 PEX10 HLA-DQB1 PIGS VANGL2 ALX4 PDHA1 SMARCD1 AP4S1 RPL10 FGFR3 RTEL1 B4GAT1 EXOSC3 TMEM138 LARGE1 CYP7B1 PIK3CA PPP2R2B ITPR1 L2HGDH ERCC2 AP4B1 PIGK EHMT1 ESPN ALDH18A1 NONO DNM1L SIK3 ATXN8OS GTF2H5 ZSWIM6 KCNMA1 RBM10 RAB3GAP1 EXOSC8 TRAPPC9 NF2 CEP120 SLC25A24 PTEN ATXN3 B4GALT1 NSD1 TAF1 RNASEH2A NOTCH3 GJA1 SCARB2 ASNS MDH1 HSD17B4 COG5 WDR81 ARID1A OPHN1 ZNF423 GJB6 PIBF1 PPP2R1A BMP4 ZEB2 SDHB RNF113A CDON FGF14 ELN COQ5 CACNA1A IFT80 SRPX2 DAG1 ACTL6B CIT SC5D PCNA SMARCC2 COQ9 WAC TBCK LRRC32 ATP6V0A2 INTS8 COG8 ZIC2 TBL1XR1 ROGDI NAGA SHH PTCH1 PPP1R12A NKX6-2 CRB1 TSEN2 TRAPPC6B MORC2 FKTN CLN8 NDUFS4 CACNA1G SMPD1 ATP6AP2 DOK7 ERCC6 COX4I1 ACO2 FTL DOCK7 DNAJC3 CSPP1 USP9X PIGN NUP133 VPS53 FOXF1 ATCAY POLR3A SEC23B TERT LEMD3 FUS SLC33A1 KCND3 KCNJ13 OCLN FAM149B1 GTF2IRD1 POGZ AP4E1 POMT2 THG1L TRRAP KLLN RFC2 PNPLA6 DARS2 SIX3 SLC25A19 PDE6D SLC25A46 AHDC1 CRPPA OPA1 PRKCG TGFBR2 C19orf12 KIF1A ATR PMM2 PGAP1 L1CAM FGF8 DENND5A RNF13 KIAA0753 WASHC5 SPG21 PRKDC ZMIZ1 FLI1 PDGFB FAM126A SMARCE1 BCAP31 APC2 SDHD SON CEP290 AGTPBP1 RD3 PTRH2 ATP1A2 KCNJ10 CEP41 SETD2 POLR3B VHL DHX30 FBN1 NEUROD2 TRAPPC4 GDAP2 CPLANE1 COASY INPP5K MT-CYB PLA2G6 ADSL SMO FOXC1 USH1G IQCB1 ANO10 INTS1 ZNF592 SLC35A2 NDP TMEM231 QARS1 FAT2 PIK3R5 TBCD ARNT2 NFIX CASK TUBA1A TRIM8 STUB1 PORCN ASPM CC2D2A SOX11 NDE1 MYMK IGF2 SUFU PLP1 TOE1 GAN ATP8A2 NIPBL HERC1 CRX PIEZO2 TFAP2A TDGF1 ROBO3 CEP57 SLC39A8 CSF1R SDHC ZNF335 TARS1 CENPF PEX2 TWIST1 MME AARS2 LYST PCGF2 ATP2B3 NPHP1 MFSD2A ATXN10 RNF216 CHD7 IER3IP1 WDR73 DACT1 CIZ1 WDPCP SLC39A14 GALC PLG APTX LMNB1 RPGRIP1L HTT NALCN HRAS CHP1 ZFYVE26 FARS2 BAZ1B COQ4 GJB1 ARX SLC18A3 WARS2 KCNQ1 KCNQ1OT1 LAMB1 PAX2 LAMA2 GRN COA7 OTX2 PRRT2 FRMD4A RUBCN POMGNT2 PIGU KLHL7 PCLO DKC1 SAMD9L DPM1 ZBTB11 RBM8A LNPK SLC25A4 DHDDS CWF19L1 BUB1B ABHD12 SMPD4 ERLIN1 KIAA1109 LONP1 TP53RK AP1S2 PDGFRB WWOX ARID2 BCOR FANCI TRMT10A FCSK SKI RPGRIP1 HNRNPH2 ZNHIT3 LCA5 TSEN15 MLXIPL DMXL2 CYB5A SUMF1 SPG7 KIF14 NUBPL MYO7A SYT14 GTPBP2 GTF2I CEP164 SETBP1 USF3 IFRD1 TGM6 AFG3L2 DHFR TDP1 GNAQ EEF2 PLK4 EOMES SEMA3E SACS TBCE PRUNE1 COQ2 SLC20A2 SMARCB1 KCNC1 FRRS1L SNX14 CTNNA2 MAG MAN1B1 INPP5E ARHGEF2 SLC25A22 NGLY1 TRAPPC11 SMC1A RBBP8 CPT2 PPP1R15B PHEX CREBBP PLD3 PLAA C2CD3 RAB18 COQ8A MPLKIP TPP1 NUP88 SALL1 IRF2BPL ACY1 MICOS13 CPLX1 SIGMAR1 UBE2A UBA5 CIB2 DNAJC5 ERCC1 CDKN1C IMPDH1 YME1L1 DCHS1 ATXN2 CAMTA1 PRNP CDKL5 FUZ NOP56 MAB21L1 RAB11B SMARCA4 STAG2 TRAF7 PDHB SPATA7 ELOVL5 NID1 TBP PI4KA CNTNAP1 DPF2 IBA57 DISC1 PROKR2 LETM1 GRM1 DNMT3A FLNA ALS2 CDC45 VWA3B SMG9 GPC4 JAM2 COL3A1 TGFBR1 MT-TL1 ERMARD VRK1 AHCY SLC5A6 BCL11A ACD REPS1 STXBP1 GAS1 FMR1 BTD EVC2 COX20 YIF1B GNAO1 TK2 ATP6V1A EXOSC2 MAN2B1 SOX3 NDUFA6 PDHX CLN5 CDC42 SLC25A1 ERCC8 OSGEP MACF1 CLCN7 KMT2C STT3B WDR26 DPM2 OPA3 NOTCH2 BCORL1 SLC9A1 TRIP13 EXOC7 COG1 ATP6V1E1 PIGT GJB2 TCTN3 SEMA6B HESX1 RAD21 EXOSC9 PACS1 SCYL1 RDH12 RPS6KA3 SQSTM1 GLI3 MFSD8 TONSL CTSF COG6 CTBP1 DOCK6 ASXL3 ARID1B NAXE PARN RFC1 TKFC DISP1 MAPK8IP3 RXYLT1 CKAP2L BUB1 FOXRED1 GTF2E2 HYLS1 SRD5A3 SLC52A3 POLR1C NSD2 USP18 POR MPL CYP27A1 RNASEH1 ARSI MGME1 NDUFA9 RRAS2 BAP1 VPS51 CDH23 PNKP MEF2C PHGDH MTHFS CENPE UBAP1 JAM3 PDYN WNT1 PUM1 ARG1 USH1C FOXH1 MYH3 SETD5 ATG5 TULP1 DKK1 ARL13B ALDH5A1 MT-ATP6 TRAPPC12 CRAT BRAT1 TUBB4A ATXN1 POLA1 GAD1 CNP MYOD1 PTF1A TMCO1 VPS11 KCTD7 AIMP2 RTTN FAR1 RERE GRIA2 TUBB3 MED12 ATP1A3 CHD4 RNU12 VPS13B VLDLR VANGL1 TAPT1 CYB5R3 UBTF LRAT EMC1 GPHN PIGP RRM2B CUL4B VPS35L NADK2 CILK1 CDK5 MDH2 TECPR2 TGIF1 FIG4 MFF MVK SCN1A MAP2K2 B9D2 FBXL4 TTC19 KMT2A TRMT1 DEGS1 CCDC88A MTHFR AP3B2 GLI2 PPP1CB NDUFS1 CLN3 ATP5F1A DYNC2I1 WDR4 NUP214 RAPSN CCND1 OXR1 UCHL1 PRRX1 NUP37 XRCC4 TERC NMNAT1 NEK1 RARS2 SLC52A2 TUBGCP4 MAP3K7 SPG11 TTBK2 WDR45 DLG4 FLVCR2 TMX2 PEX16 HK1 GPSM2 KRAS ELOVL4 SOX2 VARS1 CACNA2D2 EBF3 FAT4 RORA CP PEX6 HP_PROMINENT_DIGIT_PAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_DIGIT_PAD EMC1 FBXW11 KDM6A SVBP DOCK3 PKDCC DDX6 MED13 RLIM NTNG1 TCF20 KANSL1 EP300 BPTF NAA10 WAC MED12 CTCF FOXP1 ACTL6A TANC2 KMT2E MYT1L BCOR TBL1XR1 ARID1B MED12L KMT2D CREBBP WDFY3 PSMD12 TRMT1 MAP1B ZMIZ1 ACTL6B TRAPPC4 EZH2 BCORL1 HP_BROAD_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_THUMB GJA5 GLI3 XYLT1 WNT5A SMO EP300 FGFR3 GPC4 TBX5 SUMF1 FGFR2 TWIST1 RBM8A USP9X RAB23 KMT2E NXN MEIS2 RLIM MYT1L GDF5 GNAS EED SUZ12 TRMT1 NOG ACTL6B FGFR1 SRCAP LIG4 GJA8 FBXW11 FLNB FLNA SVBP MEGF8 MED13 BMPR1A B3GAT3 PSMD12 CREBBP PTEN HOXD13 ACTL6A TANC2 MED12 KCNH1 BPTF EZH2 MSX2 GPC3 ACAN ROR2 SATB2 DVL3 NSUN2 OTUD6B DOCK3 EXOSC2 DDX6 BMP2 DACT1 G6PC3 DVL1 PYCR2 MAP3K7 ADNP ALX4 BCORL1 GATA4 NSD1 COL2A1 PUF60 SALL1 NTNG1 TCF20 CHST3 PRKD1 FGF9 SNIP1 SMOC1 WDFY3 ZMIZ1 TRAPPC4 INPPL1 PACS1 HP_SLENDER_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_TOE TRMT10A SMS PPP1R15B MTM1 B4GALT7 VPS13B HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY TP53 WDR35 CLIP2 LRP5 EXT2 COMP PUF60 GJA5 EVC XYLT1 WNT5A TNFRSF11B ATRX IFT122 PRMT7 SF3B4 RMRP MAP3K7 BRCA1 PEX12 MGP CEP152 KCNA1 GDF5 RTEL1 GPC6 ACP5 PEX6 CTNS ARCN1 KANSL1 PIGQ CEP55 TRPS1 FGFR1 FGFR2 LIG4 SIK1 GJA8 B3GALT6 KIF22 FAM20C GLI3 SPART CENPJ DYM IFT172 NSD2 DHCR7 CBS NSDHL PIK3R1 FANCM GPX4 COL10A1 TRPV4 PEX10 CDT1 ACTL6A GNPTG RNU4ATAC KCNJ8 KIAA0586 RPGRIP1L DYNC2I1 FN1 COL1A1 FIBP EP300 UFSP2 GLI1 BPTF KCNH1 TMEM107 ROR2 PDE3A INPPL1 FGF10 PDE4D BRF1 TBL2 DHODH FBN1 SHOX FAM111A GPC3 PEX5 PEX26 FKBP10 GLB1 PEX16 XRCC2 RFWD3 SETD5 MUSK ACAN COL1A2 KCNE5 HERC2 GGCX TBXAS1 SALL4 DYNC2I2 PYCR2 MKS1 COG4 RAD51C IHH NF1 ALX4 SNRPN ORC1 NEK8 VAC14 OBSL1 GUSB ERCC8 LIMK1 P3H1 CLCN7 SCN1B CCDC8 SMARCA2 CKAP2L MET COL2A1 PLK4 COL11A2 LBR NADSYN1 CENPE NPAP1 SNX10 ENPP1 SIL1 LRP4 RAD51 PCYT1A DVL3 DKC1 SNORD116-1 TNFSF11 PLOD2 CENPT TRPV6 AIP TTC21B RECQL4 KIF7 HSPG2 COL11A1 BPNT2 RBM8A EIF4A3 KMT2E FANCD2 RLIM DYNC2H1 MKRN3 SNORD115-1 WNT7A TONSL FDFT1 MED25 TYROBP CRKL TCTN2 RUNX2 EIF2AK3 HDAC6 PIGS PTH1R WDR19 LMBR1 RAB23 PEX2 MAP2K1 DONSON DYNC2LI1 EXOC6B ZBTB20 TNFRSF11A SLC34A3 IQCB1 AIFM1 NOTCH3 EFNB1 RBPJ GNAS MSX2 SIK3 TRAPPC2 RBM10 NSUN2 AMMECR1 CANT1 TCIRG1 TRIP11 IFT140 HS6ST1 KDELR2 BMP2 ATP7A KCNJ2 ANO5 DVL1 RB1 GJA1 FANCC CHN1 FLNB PSMD12 NDN B4GALT7 PRKAR1A ZEB2 VDR ELN PDGFRB GATA4 LIFR FLNA SLC39A13 TMEM38B IFT80 NOP10 MTAP DDRGK1 OCRL ANTXR1 CUL7 DCHS1 SLC35D1 SLC29A3 MAD2L2 SDCCAG8 CWC27 CCN6 ANKH FGF9 AGPS KNSTRN ADA WDFY3 ZNF141 PHYH PYCR1 CASR FGF23 POC1A PEX11B TBX3 SBDS HPGD FGFR3 IL7R PTDSS1 HOXA13 LTBP3 SUMF1 FZD2 APC MAFB MYT1L PIGL CYP27B1 SLX4 AMER1 SUZ12 NANS TRMT1 ACTL6B SRCAP MED13 GTF2IRD1 DNAJC21 ESCO2 SEC24D DMP1 RFC2 PALB2 TGFB1 ZIC3 SEMA3E PEX14 EZH2 B9D1 ORC4 ESR1 BCR LPIN2 ATR ORC6 PIK3CD DDX6 ALG9 WNK1 ZMIZ1 TBCE SON CEP290 TPM2 NOG PEX1 POLE MCTP2 IDUA COL9A1 EFL1 NEPRO FANCE CHST3 ACVR1 CFL2 SMAD4 NEUROD2 ZNF469 SATB2 NEK1 MRPS28 INPP5K TRAIP NPR2 CRTAP BMPR1B CYP19A1 RSPRY1 TWIST1 KRAS TMEM231 STX16 IARS2 RSPO2 EXTL3 MYSM1 GPC4 NFIX TBX5 EBP TRIM8 PORCN RPL26 HBB USB1 CC2D2A SCN9A SVBP B2M GAN SOST FANCB SLC26A2 MAGEL2 EHHADH LONP1 CEP120 CSF1R DNMT3A MTX2 COL9A3 ALPL NKX3-2 FANCF SQSTM1 TINF2 PRKACB TBCD GNPAT DACT1 IFT52 WDPCP CDKN1C RINT1 FLI1 SERPINH1 CDC6 ZBTB16 CASK AFF4 ABCC9 CSPP1 BAZ1B CDC45 ARX NSD1 TMEM216 ZMPSTE24 FANCL PRKD1 SALL1 SH3PXD2B KLHL41 EVC2 TCTN3 CA2 HOXD13 PIGU IDS P4HB TBX4 GATAD2B TRAPPC4 PHEX MMP13 HHAT NPHP1 PEX19 TRAF3IP1 LMNA FANCI TENT5A MEIS2 SKI LOXL3 RPGRIP1 FBXW11 CYP2R1 CPLX1 RBBP8 RPS19 GTF2I SETBP1 PTEN COL9A2 MMP9 MATN3 BCOR SLC17A5 CLTCL1 HARS1 CHD7 B3GLCT MIR140 OTUD6B DOCK3 RAG2 MYF5 SLC25A22 PEX13 NXN POR RIPK4 CREBBP ATP6V1B2 CTSK HINT1 SFRP4 C12orf57 PWAR1 RET NTNG1 TCF20 INTU SNIP1 SHH ADAMTSL2 ERCC1 SMARCAL1 CTC1 SOX9 PEX3 NOTCH2 CDKL5 MEGF8 ADAMTS2 LARP7 PCNT PAPSS2 GNPTAB TERC PEX7 PRDM5 USP9X COG5 IFIH1 LETM1 RAG1 POLR3A BHLHA9 EED OFD1 PTPN11 GLE1 B3GAT3 PEPD LEMD3 SRP54 TREX1 TREM2 SCN2A OSTM1 KCNN3 CTCF MAPK1 DMXL2 MED12 IFT57 ERCC4 HNRNPA1 SRY HOXA11 GNAO1 NPM1 EXOSC2 MAN2B1 INVS ALG12 SLC35A2 ANTXR2 EXT1 WDR26 PUS3 GORAB PLEKHM1 PIK3C2A CLCN5 STXBP1 UBE2T CCNQ SLC10A7 PIGT UGP2 PISD CSGALNACT1 PACS1 RAB33B TMEM165 HSPA9 VCP RPS6KA3 TCF4 MGAT2 SMO ARSL ACSL4 ATP6V0A2 ATRIP KIF15 TERT HYLS1 BMPR1A CFAP410 PLCB3 VPS13B TANC2 RPL13 SGMS2 IL2RG PTHLH POLR1A GSC PNKP DDR2 IDH1 RAB3GAP2 ERCC6 SLCO2A1 GPR101 PRKACA CEP164 COG1 MMP2 TGDS FAT4 SLC2A10 LMOD3 NEU1 SMOC1 ANAPC1 CHSY1 NDUFAF6 IFT81 PLOD3 WRAP53 NPHP3 NHP2 TUBB3 DLK1 MAP2K2 GMNN ITCH TAPT1 TBX15 NIPBL SCARF2 PITX1 RASA1 HDAC4 NEB PIGP VPS35L BRIP1 BRAF JAG1 GALNS IFT43 SAMD9 FIG4 BGN THRB MEG3 B9D2 PARN RTL1 PAM16 TMEM67 CTBP1 SNRPB CYP3A4 BRCA2 PWRN1 KAT6A FGFRL1 G6PC3 NSMCE2 SLC2A2 NPHP4 ADNP ACTA1 GHR BCORL1 LMX1B HNRNPA2B1 ADAMTS10 POP1 RETREG1 FANCG FANCA CHEK2 IDH2 ARSB KIF1A DCLRE1C HP_BICORONAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORONAL_SYNOSTOSIS RECQL4 FGFR2 FGFR1 MSX2 ZIC1 HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS ERF COMT SEC24C TBX1 UFD1 HIRA JMJD1C GP1BB ARVCF RREB1 FGFR2 HP_ABNORMALITY_OF_FONTANELLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FONTANELLES PEX11B UBR1 TPO ATP7A PTDSS1 PEX5 WNT5A TSHB NKX2-1 ATP6V0A2 ZIC1 LMNA SIX2 CHST14 MTOR CYP27B1 AMER1 ARX PEX6 TG LIG4 PLAGL1 AGTR1 CYP2R1 PIEZO2 PEX2 FAM20C ADAMTS2 DUOX2 ACTA1 ETFB REN SETBP1 NDE1 LHX4 CTSD HYMAI SEC23A RNU4ATAC ZMPSTE24 COL11A2 COL1A1 KIF7 PEX13 AGT RPS6KA3 PEX1 NPHP3 ALDH18A1 PAX8 ROR2 B3GLCT ATR MIR140 BMPER PEX26 DSE COX5A LRP2 LHX1 ALG9 COL11A1 COL1A2 TSHR NSMCE3 MED12 NLRP3 FAM111A PEX10 POR TBCE GPX4 FGFR2 COG4 CTSK MASP1 MMP2 LMOD3 FAT4 ORC1 PEX19 HRAS DUOXA2 SHPK P3H1 FGFR3 NEPRO POU1F1 INTU IGF2 ERCC1 CDKN1C MAF ALG1 PEX3 ASPA ANKRD11 DCHS1 KLHL41 CRTAP DLK1 SLC5A5 PEX14 PROP1 PYCR1 ALPL MSX2 NKX2-5 ETFA HNF1B PEX12 ATRX PIGA SMC3 POLR3A FLNA ALG8 IYD VPS35L CDC45 SMG9 SLC26A4 ACE RECQL4 PIGQ ETFDH GLIS3 RBM10 RUNX2 SUFU SKI ACTG1 MVK HPGD GJA1 MEG3 ACTB GLI3 RTL1 SLC25A24 PEX16 PAM16 ANTXR1 SLC34A3 TRHR BANF1 HSD17B4 TWIST1 ZSWIM6 NSUN2 ATP6V1A PPP2R5D GNPAT EP300 USP7 HOXD13 KLHL40 HESX1 SOX9 DVL1 FOXE1 LHX3 CREBBP TALDO1 VDR H19 NEB KCNQ1 KCNQ1OT1 MYCN SH3PXD2B EBP ATP6V1E1 VARS1 FIG4 INPPL1 HP_ABNORMALITY_OF_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CRANIAL_SUTURES IFT43 LRP5 CDH11 RAC3 POLA1 ATP7A TBX1 IFT122 FGFR3 ZIC1 STAT3 ERF TENT5A CEP152 SKI CHST14 GPC6 KANSL1 TGFBR1 FGFR1 FGFR2 LIG4 B3GALT6 AGTR1 PLOD2 CYP2R1 RBBP8 PDX1 SEC24C ADAMTS2 TBC1D24 RPS19 CENPJ SETBP1 ASXL1 COL1A2 SEC23A COL1A1 AGT ALDH18A1 ROR2 B3GLCT MIR140 FAM111A TWIST1 ZMPSTE24 FKBP10 GP1BB LMX1B CCNQ POR ABCC8 CDC6 PHEX ERCC5 CTSK MASP1 ALX4 MSX2 VAC14 PTDSS1 SPECC1L MPLKIP GCK P3H1 CDT1 IGF2 PURA PLK4 CDKN1C TANC2 ENPP1 NOTCH2 ASPA CENPE SNX10 YY1 MEGF8 DPH1 TBCE RECQL4 MAF HSPG2 ADSL BPNT2 COMT POLR3A CDK8 SETD1A CDC45 SMG9 ACE SLC39A8 NAA10 GLIS3 IL6ST RUNX2 P4HB ERMARD B3GAT3 WDR19 LEMD3 ZEB2 HPGD SC5D CTCF RAB23 COLEC11 ACTB KCNAB2 ERCC2 ANTXR1 SLC34A3 STXBP1 EFNB1 AKT1 GNPTAB GTF2E2 HSD17B4 GTF2H5 SLC25A24 RBM10 NSUN2 ATP6V1A AMER1 KAT6A KDELR2 USP7 TCF12 SLC35A2 NSD1 PEX14 NOTCH3 SMAD6 KCNJ11 B4GALT7 PPP2R1A BMP4 VDR PDGFRB FLNA GABRD LMNA DDRGK1 SEC24D HNRNPK DCHS1 ADARB1 ATP6V1E1 ATP6V0A2 WDR35 CWC27 KPTN AIFM1 SP7 PTCH1 SMARCD1 RERE TMCO1 COLEC10 KRAS GORAB RNF113A SMO CEP120 SIX2 EXTL3 ATRIP UFD1 TCIRG1 CYP27B1 MAPK1 ATR TNFSF11 FLNB THRA NUP188 ZNF462 INTU REN DONSON BMP1 RREB1 PTEN ESCO2 DMP1 TBCK HIRA AHDC1 RPS6KA3 ADAMTSL1 PEX1 GLI3 TGFBR2 IFT140 ORC4 MAN2B1 BCL11B KDM5B RSPRY1 DSE WNK1 PPIB COL11A1 FREM1 MED12 NLRP3 PSAT1 SON FOXG1 MMP2 FAT4 SLC2A10 SMAD3 CCBE1 SETD2 CYP26B1 CHST3 FBN1 ANKRD11 IRX5 TRAIP JMJD1C TLK2 CRTAP MAP1B DLK1 CHD4 GMNN ALPL TAPT1 ADAMTS3 IFITM5 ERCC3 SCARF2 PIGT PPP3CA SMC3 NFIX RNF125 EXOC8 DDX6 SCN9A PCNT ARID2 FIG4 ACTG1 APC2 MYH3 POU1F1 ERCC6 HERC1 MEG3 PRDM16 RTL1 PAM16 ORC6 MTX2 PPP1CB TARS1 BANF1 PEX19 MMP14 CLCN7 SLC12A6 HUWE1 EP300 ARVCF IFT52 MESD CREBBP MAP3K7 INS AFF4 H19 DPF2 KCNQ1 IL11RA KCNQ1OT1 SH3PXD2B RETREG1 RTTN HNRNPU ORC1 KLHL7 ERCC1 KIF1A FAM20C HP_METOPIC_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METOPIC_SYNOSTOSIS SIX2 PTCH1 SON WDR35 HNRNPK FREM1 HERC1 CDK8 GLI3 HP_FACIAL_SHAPE_DEFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_SHAPE_DEFORMATION MAN2B1 ITGA8 FGF20 HIBCH NPHP3 AGT REN CEP55 ACE PKHD1 AGTR1 HP_FRONTAL_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_HIRSUTISM FLNA DLK1 TASP1 RTL1 CKAP2L MEG3 HP_ABNORMALITY_OF_MOUTH_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SIZE CLIP2 NFIX SOX4 NALCN TRIP4 AP4M1 STRADA TBX1 ATRX SF3B4 SCYL2 QRICH1 AP1S2 ARID2 SEPTIN9 LMNA TWIST2 TRMT10A TPM2 DPYD CHST14 MTOR HNRNPH2 MED13L BPTF TUBB PSPH PHACTR1 MBD5 LIG4 AKT1 FBXW11 TBC1D20 FAM20C PIK3R2 SEC24C ARID1A GTF2I SETBP1 DSE GNAI3 RSPO2 CDT1 ACTL6A KCNJ8 SEC23A RIPK4 FGFR2 SEMA3E NFIA SPEG AGA ALDH18A1 KCNH1 SRCAP TBL2 TP63 DOCK3 ALG9 AUTS2 GPC3 ZMPSTE24 GLB1 CLCF1 GP1BB ADNP LMX1B CDC6 TXNL4A MUSK PPP1R15B FBN1 ATP6V1B2 KCNK4 ACTB ORC1 SATB2 LIMK1 SALL1 NTNG1 TCF20 SMARCA2 UBE2A COG7 SNIP1 COL2A1 ADAMTSL2 ATIC SMS HIVEP2 TMEM70 DCHS1 DHCR7 CAMTA1 CCND2 SMARCA4 MYBPC1 LARP7 PAX3 CHRNG TNNI2 CENPT PLCB4 IGF1R PIGB RECQL4 POLR1C MAF HSPG2 DPF2 BPNT2 TTN SIN3A PMM2 TTC37 PIGA FAT4 EIF4A3 KMT2E COMT ASXL3 RLIM POLR3A FLNA SETD1A MADD CDC45 WDR73 MYH3 GPC4 SSR4 POLD1 CRKL SYNGAP1 FLCN ACTG1 HDAC6 B3GAT3 PIGL HECW2 TNNT3 UBE3A SMARCD1 PQBP1 DDX11 AP4S1 RPL10 KCNN3 CTCF TMEM67 MAPK1 KCNAB2 PIK3CA ZBTB20 B3GLCT AP4B1 GBA STXBP1 NONO ZSWIM6 UBE3B NSUN2 AMMECR1 CANT1 SLC12A2 WNT3 PIGY AKT3 COL7A1 CDC42 PAFAH1B1 SLC25A24 PTEN BMP2 OSGEP SMARCE1 PSMD12 RALGAPA1 B4GALT7 MED12 NOTCH2 DLK1 RNF113A ELN STAG1 GABRD MMP1 ZMYND11 MCM5 SMARCC2 ORC4 IDUA AP4E1 RYR1 SP7 ATP6V0A2 YWHAE WDFY3 PTCH1 MEG3 SMARCB1 PACS1 RERE RTL1 KCNMA1 APC RPS6KA3 TCF4 CHSY1 MGAT2 PTDSS1 MKS1 LTBP3 SH3PXD2B PRRX1 CD96 EXTL3 MYT1L PIGN UFD1 ARID1B MAPRE2 TRMT1 FBXO11 MAPK8IP3 ACTL6B ANKRD11 KDM3B PIEZO2 MECP2 SOX6 MED13 BMPR1A GTF2IRD1 POGZ DONSON RREB1 TANC2 TRRAP COL11A2 RFC2 TRMT5 TRIP12 ITGA3 HIRA ZNF148 GATAD2B GSC IFT140 BCR ORC6 PGAP1 SNRPN DDX6 MDM2 COL11A1 SMAD4 ZMIZ1 PACS2 ERLIN2 FREM2 KDM6B MED12L COG1 SKI BCL11B PPM1D INSR CCBE1 CDK13 SET TMCO1 CHST3 CDK19 EDN1 OFD1 RTTN COL3A1 IRX5 JMJD1C DHCR24 TLK2 CRLF1 ADSL GMNN SH2B1 NRXN1 ADAMTS3 ABCC9 CUL4B IARS2 NXN RAF1 ATP10A GALNS SOX11 SVBP BRPF1 GJA1 WAC SON PRDM16 MTX2 MAP2K1 ADAT3 CENPF WDR4 TWIST1 GNS PCGF2 TAF6 ATAD3A HUWE1 EP300 CHD7 ARVCF DACT1 KAT6A ROR2 RAI1 TCOF1 CREBBP ZBTB16 TALDO1 TBX4 BCORL1 BAZ1B TASP1 TRIO OTX2 POLR1D PIGU OCA2 DCPS TRAPPC4 KLHL15 BIN1 HP_ABNORMALITY_OF_MOUTH_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SHAPE KCNMA1 TET3 CCDC174 PIGW COLEC10 UNC80 RPS6KA3 CDH11 PAK3 PGAP3 MGAT2 STRADA NEXMIF WNT5A ATRX DGCR6 PPP1R15B REV3L SLC9A6 DLK1 PIGV STAT3 KCNJ6 EXTL3 MAFB TRMT10A TUBB4A ASXL3 MTOR FLII MED13L NRAS STAC3 ZNHIT3 KIF15 ABCC8 MLXIPL FBXO11 ANKLE2 KANSL1 SMC1A MBD5 KAT8 POGZ MAGEL2 DIS3L2 PPP2R5D RAI1 LEMD3 ALX4 CPLX1 PDX1 OCRL HDAC8 TBC1D24 RAC1 SNRPN MEG3 HSPG2 GTPBP2 NSD2 PIK3R1 ZSWIM6 ADAM22 ESS2 VPS13B NDN PURA WDR37 HNRNPK SETD5 TRIP12 AKT1 KCNH1 DST NKAP MEF2C PRKAR1A AP1S2 KIF1A TELO2 PDE4D MIR140 SRCAP DGCR8 PIGN CHAMP1 DENND5A DEAF1 LIFR GFM2 PPP2R1A ATN1 MYH3 NXN NELFA PACS2 INPP5E TCF20 SON FOXP1 CNOT3 SIM1 TCF4 KCNJ11 HERC2 MED12L DVL3 RNU4ATAC FAT4 PWAR1 DVL1 SHMT2 PIGL GCK HRAS EEF1A2 GRIA3 MSL3 BRAF FAM149B1 CCDC47 IQSEC2 UBE2A AFF4 DHX37 ROR2 PLOD3 MASP1 KCNK9 GK FZD2 NPAP1 MED12 SMC3 KIF7 SNORD116-1 LMBR1 POMT2 CHRNG NOVA2 PACS1 SLC6A8 INTS1 NIPBL CSNK2B EIF2S3 PIGT NCAPG2 SLC35A2 UBA1 SIN3A PGAP2 PIGA LETM1 RLIM HMGA2 POLR3A MKRN3 GPC4 NFIX SNORD115-1 OGT RTL1 EHMT1 ERCC2 PUS7 PIGQ ERF BUB1B SOX11 BRPF1 NTNG2 ZEB2 HOXB1 SC5D ZC4H2 COLEC11 PIGY SOX5 KMT2A OCA2 CCDC88A ZBTB20 COLQ GBA TFAP2B EXT2 DGCR2 AHI1 NONO WDR4 IL1RAPL1 PLXND1 TRAPPC9 KDM1A KAT6A TMEM237 HACE1 CDC42 CTBP1 PWRN1 FGFRL1 LAMB2 TBX1 HDAC4 ELN INS SLC16A2 NALCN NOTCH2 PIGO TASP1 HS6ST2 IGF2 WAC DCHS1 LAMA2 EBP TWIST2 PHF21A PARS2 PIGU PCLO RAD21 CLTC EBF3 SMARCD1 RAB18 HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION KDM1A PIGW UNC80 PUF60 PAK3 SMPD4 ADGRG6 AP4M1 STRADA WNT5A ATRX QRICH1 DMD GDI1 SIX3 TRMT10A KMT2A MEIS2 CEP152 CHST14 ACTA1 MTOR BPTF MFSD2A ARX CREBBP MAP3K20 MBD5 COPB2 CDH11 MAGEL2 MAN1B1 OCRL SNRPN DISP1 ARHGEF6 TBC1D24 MEG3 NEXMIF THOC6 NSUN2 SEC23A NDN RAD21 TAF1 NODAL NFIA COL11A1 KCNH1 B3GLCT OTUD6B MAP11 CHAMP1 DEAF1 ITGA7 ARHGEF2 UPF3B GAS1 ADNP CCNQ SETD5 PPP1R15B HERC2 MYOD1 CPLX1 IQSEC2 WDR26 HDAC8 KCNK4 ACTB PLAA PWAR1 SHMT2 CNTNAP2 MCPH1 MSL3 TRPS1 PURA ATIC PTCH1 SPECC1L PITX2 RPS7 ODC1 NPAP1 YY1 SNORD116-1 RAB11B PIEZO2 SHH IGF1R PIGB MAF ADSL GPC4 NCAPG2 PMM2 PGAP2 TMEM94 PYCR2 PHC1 RHOBTB2 SMC1A MKRN3 SETD1A SNORD115-1 PDE4D ASPM MECP2 MED25 RPL10 NAA10 GLIS3 CRKL DIS3L2 ACTG1 PSMD12 AGTR2 DLL1 PQBP1 AP4S1 CTCF MAPK1 CNKSR2 BCL11A IRF6 MPC1 POLR3A MED12 AP4B1 PIGK GBA NONO CENPJ IL1RAPL1 AMMECR1 EXOSC2 MYL2 ZNF41 KAT6A CDC42 DYRK1A SLC25A24 ALG12 SLC9A7 KCNJ2 DVL1 FRMPD4 SMARCE1 DPM2 METTL5 CDON CTNNB1 OPHN1 CXorf56 ZSWIM6 PIGG TAF13 PBX1 COG1 SC5D HNRNPK DCHS1 RAPSN ADARB1 WAC TBCK FTSJ1 EDA HCFC1 CLTC KIF11 TRAPPC9 GNE PACS1 RNF135 KCNMA1 PGAP3 APC FOXG1 PIGV KCNJ6 PAX3 AP2M1 USP9X PIGN SLC26A2 FLII ARID1B KIF15 MID1 MAPK8IP3 ZNHIT3 RAI1 NALCN KDM3B NOG KCNK9 ZNF462 RPS6KA3 DLK1 POGZ AP4E1 TRRAP WDR19 SLC25A46 ZBTB18 VPS51 GATAD2B ADAMTSL1 DLG3 MED13 KDM5C BCR TGIF1 KNL1 EDAR FBN1 NRXN1 DENND5A RSPRY1 SASS6 GLI2 DSE PPP2R1A ATN1 SMAD4 PRKDC ZMIZ1 FGF8 PACS2 TCF20 SIM1 SMARCC2 MED12L CDH2 PTRH2 SSR4 RNU4ATAC FAT4 MCTP2 TUBGCP2 BRAT1 BMP2 BCL11B PPM1D EHMT1 GAD1 PIGL CDK13 EEF1A2 CDK19 SELENON OFD1 ACSL4 SATB2 ROR2 BRCA1 FAR1 PDGFRB AGL ANKRD11 TPM2 RYR1 STAG2 MAP1B CEP135 EDARADD WDR62 ZIC2 CNOT2 CEP63 FGFR1 NIPBL NCAPD3 PIGT TWIST2 ZNF81 IFT43 DDX59 NXN PREPL SMC3 CACNA1C VPS35L SYP MID2 PIGQ KIF14 STIL RTL1 PIGO LAS1L CDK6 TOE1 ZNF711 LMBRD1 AP3B1 ANKLE2 CDK10 ZC4H2 SON HACD1 PIGY SETBP1 OCA2 CLCN4 CLP1 SUFU ALG13 CIT EXT1 PRKACB PPP2R5D DMPK PCGF2 TAF6 TPM3 GALNT2 TMEM237 ALDH6A1 HUWE1 PTCHD1 TSPAN7 IER3IP1 RAB39B PWRN1 MESD WDR4 USP27X SYT1 TDGF1 AFF4 ABCC9 EDA2R EP300 TASP1 DPF2 WARS2 FOXH1 HK1 CDK5RAP2 HNRNPU PIGU DCPS CSNK2A1 EBF3 MYO18B TBL1XR1 UBE3B HP_LONG_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_UPPER_LIP SLC35C1 B3GALT6 ARX DIS3L2 TBL1XR1 TRPS1 HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY IARS1 PCNT RBBP8 ASPA ZNF462 PLP1 CENPJ COG1 AP3B1 GJA1 NONO NSMCE3 PLK4 ABCC8 ALB PRKAR1A TANGO2 LRP5 ACAD8 MT-TK ATRIP SOX3 CEP152 CDC6 CENPE RRAS2 TRAIP KCNJ11 WDR26 ADNP ABCA2 ATR PEPD MAP1B B4GALT7 RNF168 ACTB TBX4 PDP1 HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY CDKL5 TANGO2 HAL TET2 SDHB SDHAF1 RTL1 TMEM70 PHGDH IRX5 PLP1 TPP2 ADNP SDHA AIFM1 EGF CNNM2 DLK1 PGM3 SDHD HSD17B10 TBX4 MADD MEG3 HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY MT-ND4 UNC80 RPS6KA3 PROP1 CTNND2 STRADA ACO2 ACOX1 EXTL3 TXN2 DAG1 MYT1L PIGN GRIN1 VPS53 AP3D1 KIF15 TSEN15 TRMT1 DPM1 ARX POU1F1 CYB5A ACTL6B NTNG1 FBXW11 PEX5 MECP2 ADK SEPSECS MED13 LIAS NEXMIF PLCB3 TSEN54 ACTL6A TANC2 TBCK PEX13 MT-TV VPS51 CLTCL1 KCNH1 CDKL5 TELO2 LHX4 TBR1 KCNJ6 DOCK3 NRXN1 DDX6 SNX14 CTNNA2 MT-ND1 GFM2 PEX16 DEAF1 TSEN2 PEX10 DYNC1I2 ZNF335 MT-TT PYCR2 ERCC5 TRAPPC12 NTRK2 PEX19 MT-ND6 CNTNAP2 RELN MT-TL1 MT-ATP6 PEX1 GRM7 TCF20 FOXG1 CCDC47 PURA GLI2 GAMT GABRA2 DALRD3 PEX3 TUBB3 MT-TK INSR YY1 ZMIZ1 DLK1 SEMA5A ADSL PEX2 PEX14 CYB5R3 NIN INTS1 MN1 LAMB1 GNPTAB GABRG2 GLUL FGFR3 KMT2E ASXL3 RNASEH2C SMC1A MTRR CASK PEX11B MADD VPS35L EXOC8 MED25 STXBP1 DYM PEX26 BUB1B SVBP ENPP1 UGDH ERCC6 MT-ND2 TUBA8 VPS11 MEG3 FBXL4 SLC16A2 RTL1 DEGS1 TUBB2A GSX2 HESX1 SATB2 EIF2S3 PEX12 MT-TW PHGDH RLIM DYRK1A BPTF ABCC6 ATRX GABBR2 SLC9A6 RNASEH2A WDR26 ADNP PSMD12 RALGAPA1 RAB3GAP2 TSEN34 RNASET2 PEX6 MT-ND5 GEMIN4 GJB6 BCORL1 PIGG FOXA2 AIMP1 SLC25A19 SYT1 RTTN ERCC2 TANGO2 COG8 MT-ND3 GJB2 UGP2 PIGU EMG1 OTX2 FIG4 WDFY3 STAMBP ERCC1 TRAPPC4 ARNT2 TBL1XR1 POMGNT1 HP_GENERALIZED_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ABNORMALITY_OF_SKIN LYST LIPN NOD2 CLIP2 CR2 PROC CDH11 SOX4 MVK TPO GP1BA ERCC3 EVC PEX5 AGA CHRND IFT122 DSP SF3B4 SETX PROS1 TINF2 PRKG1 CCDC115 FGFR1 IRF5 CEP152 XPC DDB2 RTEL1 MMACHC ACP5 EOGT GPI EPM2A ELN PEX6 NOTCH1 KANSL1 TGFBR1 F8 GABRG2 LIG4 AKT1 NPC2 PRF1 HDAC8 KRT18 ATRX SLC29A3 SP110 F12 PIEZO1 CENPJ ITGB4 DHCR7 CBS NSDHL PIK3R1 GSN SMAD3 CIB1 SLC25A13 COL1A1 RNU4ATAC IL18BP RAD21 EPHB2 BSCL2 CLDN1 FUCA1 SYT2 STAT3 NFIA NLRC4 JAK2 TBL1XR1 NECTIN1 GFI1B KRT74 ALDH18A1 C2 ABCB4 SLC6A19 TBL2 SPTB BRCC3 MT-ND5 CYLD KRT14 SLC35A1 PEX26 ATP8B1 UROD PIK3CA ZMPSTE24 RARA PEX16 GP1BB CFH MYH11 EPB41 PLEC LMX1B POU2AF1 SCARB2 SLCO1B1 MRE11 SDHD ITGB3 F10 POLE CTLA4 PKLR HERC2 MT-ND6 GGCX ERCC5 MYO5A COG4 FBN1 UVSSA LAMC2 MASP1 FLT4 KIT BRAF GLRX5 GATA1 TREX1 ERCC1 ERCC8 FASLG NBN LIMK1 CFTR F5 MT-ND4 SLC20A2 EDNRB DNASE1L3 SMARCAD1 SLC25A11 MBTPS2 PEX3 SERPINF2 MT-TL1 VWF CHAT TOP3A SMARCA2 ATP6V1B2 UGT1A1 CTSB FTO GJB6 CHRNE COG7 PLK4 SFTPB TGFB2 SLC44A1 ADAM17 PDGFB ITGA2 SOX18 CENPE NPAP1 RAC2 SNX10 BLM TNFRSF1B SMC3 DKC1 SNORD116-1 SLC18A3 CYP7B1 PYCR1 WRN PKP1 SPINK1 MUSK HNF4A VAMP1 GLMN F7 TNFRSF13C LBR ENG TET2 IGF1R PAX3 NHLRC1 SPINK5 GDF2 NABP1 PGAP2 WIPF1 GLUL TTC37 CARMIL2 DTNBP1 TBX20 CFHR1 COMT TSC2 MKRN3 SNORD115-1 SLC17A9 EDN3 NLRP3 SLC30A10 MT-TF FDFT1 ERCC2 POLD1 RHOH FYB1 ATP2C1 PRKAR1A ENPP1 NKX2-5 SYNGAP1 FBLN5 GLA SLURP1 HPGD SMARCD1 IL36RN PFKM PEX10 TWIST2 FERMT3 PEX2 RIT1 PRTN3 MAP2K1 ABCC2 TP63 ITGA2B SCN1B GBA PEPD IL12RB1 RORB MPV17 HBB SIK3 CDIN1 GTF2H5 RBM10 NSUN2 BRCA1 COL7A1 SERPINA1 AEBP1 SLC25A24 PTEN SERPING1 NDUFB11 CSTA HLA-DPA1 PDGFRB ATP7A CYBB ANK1 NSD1 EPB42 LHX3 TNFRSF1A ATP6V1E1 SLC26A4 NFKB2 SDHC NDN KRT16 ARID1A NBAS ARX HLA-B DLST SDHB TLL1 RNF113A KRT8 B3GALT6 FOS MEFV STAG1 TNPO3 SLC39A13 MT-TW NTRK1 NOP10 MCFD2 MTAP ANTXR1 LORICRIN PCNA SMARCC2 KDSR DPAGT1 C1S ATP6V0A2 ERCC4 HCCS WDR35 COG8 LPL FECH LMNA NAGA NCF4 FGF23 RERE SNRPN KIF1B POLA1 SCN9A VPS33B ALOX12B PEX11B CPOX ALDH2 PGAP3 IL7R TERC ERCC6 PTDSS1 TRPM4 CAV1 TGFBR2 KIAA0319L ZNF469 HLA-DRB1 CDKN1B SPTA1 FAS GALM NECTIN4 EPAS1 UFD1 PIGL VPS53 TCIRG1 HPS4 MAPK1 SMAD4 SEC23B SMC1A KRT1 SBDS TERT SFTPC TNFSF11 PGM3 ABCB6 TNXB DUOX2 TNFSF12 TBX19 OCLN SDHAF2 HK1 GTF2IRD1 NCF2 ETFB SCN10A VHL MYORG ORAI1 IKBKG KLLN RFC2 GUCY1A1 NR1H4 ITGA3 TGFB1 SLC2A1 MT-TS2 RPS6KA3 PRICKLE1 F13B KCNQ3 SULT2B1 HPS1 ADAR PMM2 CYBC1 KCNJ6 GJA1 ALDOA ADA2 USP8 SLC37A4 MDM2 PARN KITLG FLI1 SMARCE1 CTRC ACVRL1 HR PSAT1 GHR PTPN11 CYBA INSR SLC39A4 BMPR2 SCN11A KRT10 SDHA TNFSF15 SETD2 GATA2 RHAG CITED2 KRT5 CCR6 CAVIN1 SOX10 CYB5R3 SCN2A ADAMTS13 KCNQ2 STIM1 RIN2 ALDOB COL5A1 BRCA2 ZIC3 TRAIP JMJD1C MT-CYB POLH HSD3B7 HELLPAR STN1 CFHR3 IKZF1 PROP1 EDARADD ETFA IL12A MT-ND1 TP53 DLL4 CD28 CALR SLC25A1 FANCA EGFR SREBF1 LAMB3 MT-CO3 HSD17B10 RET RUNX1 KRAS WAS SLC25A20 SLC2A10 NFIX DSTYK EBP DZIP1L STUB1 PORCN ALOXE3 USB1 SOX11 EDA POU1F1 CLPX RBM28 MT-TQ NIPBL JAM2 ARL6IP6 FOXE3 ABCC6 PRDM16 PIGY RAPSN NEU1 IFNG TGFB3 TFAP2A CD81 MTX2 AGPAT2 TPI1 TARS1 COX7B HFE MDH2 COL12A1 RNASEH2A ODC1 ARVCF IER3IP1 SH2B3 ADGRE2 ATM RINT1 ETHE1 TSC1 NUMA1 LMAN1 TOR1A PPARG TGM5 HPS5 TALDO1 PDSS1 PIGO BAZ1B MYO9A GLB1 PLAU FIP1L1 MPL FANCD2 SAMHD1 ANTXR2 FGFR3 ALDH3A2 WDR19 NBEAL2 HBG2 MT-ATP6 COL17A1 GNAS NPC1 CD19 ETV6 FKBP14 DNASE1 IRF2BP2 PLOD1 DPM1 ICOS ABL1 RNASEH2B IFT43 GCLC PIGW CASK PCK1 CD46 ARL13B COL5A2 ELOVL4 FANCE TBX1 ARID2 PRPS1 SEPTIN9 STAT5B TRMT10A PTPN22 ATR CHST14 SLC4A1 ACTC1 MLXIPL COL1A2 CYB5A RAB27A PDCD10 PRKACA RBBP8 SEC24C GALE ADAMTS2 CFI RBPJ PSMB8 ABCA3 SMPD1 GTF2I PML USF3 LHX4 GALK1 HBA2 MVD DHFR COX4I2 BCOR MT-CO1 PRKCD IL2RG AGRN BLOC1S3 FANCC PALLD GNAQ CHRNA1 RAB3GAP1 MYLK CHD7 ALAS2 PCDH19 DDR2 WNT10A RAG2 SCN4A TSHR PEX13 CASR PRSS1 ARHGAP31 SNAP25 LMNB2 DAXX PPP1R15B G6PD ACTA2 RMRP CDH3 COL3A1 AKT3 PRKAG2 ADA PWAR1 AGXT MFAP5 XRCC4 MS4A1 ANKRD26 FGFR2 MPLKIP RASGRP1 KRT83 FCGR2B HLCS C4A CTC1 NFKB1 RNASEH2C AMACR FDPS XPR1 CHRNB1 TRAF3IP2 SLC5A5 IFIH1 PEX14 KRT2 LARP7 RECQL4 MAT2A FCGR2A MEN1 BPGM DPF2 ABCB11 SLC25A3 EIF2AK3 PRDM5 SPIB COL13A1 AIP COG5 VIPAS39 DSG4 RAG1 POLR3A CPA1 PTPN3 MMEL1 F13A1 PRRT2 ETFDH AKR1D1 NDUFS2 POLG2 NFKBIA DDX11 ATP6AP2 CTCF AP1S1 KCNAB2 LIPA HBA1 SNAI2 ACD STXBP1 APOE MYH9 TRHR GJB3 GNPTAB EVC2 HOXA11 F2 SLCO1B3 ATP6V1A TGM1 NPM1 TMEM260 LRP4 MAX CD109 FERMT1 EDAR HESX1 TFAM IL17F TBXA2R PKHD1 PERP PUS3 XPA KCNN4 GJB4 GORAB DOK7 PMVK GALT CTSA LOX GABRD MMP1 TNFRSF13B SLFN14 CCN2 GABRA1 LAMA3 HPS3 HOXC13 C1R RAF1 PARS2 ATP7B TRMU GJB2 PDE11A IL7 SMARCB1 TCF4 NGF SPOP PPOX SLC27A4 TMC6 EPHB4 ZBTB16 ALMS1 ELMO2 NAA10 ATRIP DOCK6 ARID1B ELP1 MYH6 PLIN1 PRSS2 TRPV3 TG MAOA RAB3GAP2 ACADVL KCNK9 B4GALT7 GTF2E2 CDKN2A BMPR1A FH GP9 RREB1 USP18 ABCD3 AQP5 GATA6 SERPINE1 ITGB2 HIRA KRT9 CDAN1 HPS6 PEX1 PAX8 TSHB ATP6AP1 DSE CASP10 MED12 SETD5 SMARCA4 GTPBP3 NLRP12 SCN8A XPNPEP2 SKI NCF1 SLC5A7 PIGV SLC2A2 DUOXA2 PRKACG P2RY12 MMP21 ANAPC1 DCDC2 UROS MITF NF1 PHGDH MT-TH CLEC7A STX11 PLOD3 JUP WRAP53 MAGEL2 NLRP1 CLCN7 GATA4 NHP2 MAP2K2 AK9 MST1 GYPC CPN1 MANBA KRT85 PEX12 KRIT1 RASA1 ATP11C PALB2 GPC1 HLA-DQB1 PEX19 MT-ND2 IYD FLNA MT-ND4L DGUOK JAG1 DDX6 PCNT TMEM127 SAMD9 GNA14 CDSN APC2 IL17RC KMT2A SCN1A BMP2 GPR35 FRG1 CCM2 ARMC5 PLCG2 EXPH5 DNMT3A IL17RA FOXP3 TMC8 RNF168 PWRN1 PIGT CDH23 LRP1 HNF1B HMGCL SLC52A2 RNF213 CHD2 MYD88 ITGA6 PTF1A ALPK1 HLA-DPB1 KMT2E GP6 STING1 CSTB FCGR2C TFR2 MT-CO2 DCLRE1C HP_LOCALIZED_SKIN_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_SKIN_LESION NOD2 RHO KDM6A CLIP2 LRP5 UBR1 PUF60 CDKN1A MVK PCSK9 ERCC3 WNT5A DHPS PRMT7 SF3B4 RMRP SUZ12 GGCX TINF2 SHANK3 DDIT3 BRCA1 ZFPM2 TTC37 IRF5 GNAQ BTNL2 XPC DDB2 RTEL1 CCDC22 LIPC MTOR ACP5 EOGT ABCC6 KDF1 NOTCH1 ATP2A2 KANSL1 SAG SOX10 TGFBR1 GJB2 STAT4 FGFR2 SLC45A2 LIG4 PRKAR1A AKT1 PSTPIP1 IFT140 NCSTN SIX1 IL23R GDF1 KCTD1 UBA1 ITGB4 NSD2 TSC2 PAX1 PIK3R1 ASXL1 GSN FANCM GNAI3 CIB1 COL1A1 ANTXR2 ACTL6A C8orf37 ERF LAMA3 CLDN1 TP63 EP300 STAT3 ALDH18A1 RP1 PALB2 PDE4D TBL2 GPNMB AHI1 CYLD GPC3 KRT14 COX7B G6PC EGFR APC GATA4 UROD ZMPSTE24 MITF XRCC2 SOS1 GP1BB NLRP1 PLEC DSTYK SETD5 NELFA SDHD TXNL4A CTLA4 UBAC2 FBN1 EYA1 LAMC2 MASP1 NF1 KIT XYLT2 ALX4 SKIV2L KIF1B ORC1 POFUT1 IDH2 ERCC1 FUS SATB2 ERCC8 LIMK1 KITLG EDNRA IRF6 EDNRB ZNF513 HRAS SMARCAD1 MSL3 HLA-DRB1 TRPM4 TOP3A PCARE PTPN11 GJB6 STEAP3 NADSYN1 PDGFB SOX18 C4A BLM RAD51 GALC TNFRSF1B DVL3 KIF7 DKC1 SEMA5A CHRNG PYCR1 WRN PKP1 MLX GLMN LBR PAX3 PDE8B YWHAE NEK2 NCAPG2 RBM8A WIPF1 SLC6A19 CARD14 CARMIL2 KMT2E FANCD2 COMT IFT88 HMGA2 ANAPC1 CCR1 EDN3 ALX3 MED25 NRAS PDE11A ERCC2 POLD1 RGR TREX1 ATP2C1 NAA10 PTCH1 IMPDH1 ABCG8 BUB3 EIF2AK3 IFT172 PIGS GLA MSH2 RPL10 TWIST2 FERMT3 RAB23 PRTN3 PIK3CA MAP2K1 PAFAH1B1 B3GLCT NOTCH3 BRAF PEPD RBPJ NONO MPV17 MSX2 ZSWIM6 UBE3B NSUN2 CDK4 ERAP1 COL7A1 TCIRG1 XYLT1 AEBP1 HDAC8 USH2A PTEN NDUFB11 CSTA HLA-DPA1 AGBL5 COL2A1 ATP7A FLNA CYBB ANK1 TAF1 ERCC5 KCNJ2 ARHGEF18 DVL1 FANCC CHN1 TNFRSF1A ATP6V1B2 FLNB KMT2D PSMD12 LDLR B4GALT7 RRAS BMS1 HLA-B PPP1R17 IDH1 SDHB MEFV ELN LIFR SLC39A13 RIT1 NOP10 FGF3 MTAP OCRL ANTXR1 LORICRIN HNRNPK DCHS1 MC1R PMS2 DPAGT1 RBP3 IGF2 CA4 ERCC4 HCCS SLC29A3 MAD2L2 CWC27 LPL LMNA COL1A2 WDFY3 DLL4 ASXL2 NCF4 RERE FANCG TMCO1 SRP54 STK11 LAMB3 SLC7A14 TMEM127 PTDSS1 SNRNP200 HOXA13 CAV1 TOPORS LDLRAP1 KIAA0319L LIPH ZNF469 RRAS2 CDKN1B SPTA1 HBB USP9X SEMA4A MYT1L UFD1 B9D2 KIF1A PIGL IDH3A MAPK1 SLX4 ERCC6 TRMT1 SEC23B ACTL6B TERT RIPK4 DIS3L2 LEMD3 ANKRD11 GJA5 ABCB6 GNAS BBS2 ZNF462 MED13 FAS GTF2IRD1 NCF2 DOCK8 TSC1 IKBKG ESCO2 PDE6A KLLN RFC2 TMTC3 RBM28 TGFBR2 MAP2K2 SIX5 TAP2 HPS1 KLHL7 LPIN2 CYBC1 USP8 LRAT DDX6 SLC37A4 WASHC5 NLRP3 DSP KDM6B SUFU EXT2 CYBA INSR SLC39A4 NAGA EPHX2 MCTP2 TNXB KRT10 NEK9 SMAD3 ASAH1 POT1 MBTPS2 KRT5 FANCE CCR6 NKX2-5 KDSR MGMT KDM5C IL12A-AS1 KCNK9 PDGFRB COL5A1 KRT17 MAX MAP1B JMJD1C POLH CBL STAG2 AHR PTCH2 MAK ZMIZ1 IKZF1 PHIP ERGIC1 CD28 FANCA SIN3A KRAS TEK IARS2 GATA6 CDKN2C WAS MYSM1 MMP2 BRCA2 NFIX EBP PORCN USB1 ABCA1 DHX38 SVBP EDA NKX2-6 CHRNA7 PROC CDK10 KRT16 ARL6IP6 RLBP1 CNGA1 NR2E3 PRDM16 GDNF TFAP2A CEP57 KIF11 SDHC ALPL NEDD4L FANCF NF2 MMP14 KRT6A REEP6 PCGF2 GJA1 PLXND1 CCT5 ERMARD MED13L RLIM EDAR MSX1 IDH3B ODC1 CHD7 GATA1 ARVCF DACT1 BEST1 ATM TCOF1 PRPF31 APOA5 ADA2 MERTK BAZ1B SMC1A H19 KLRC4 ROM1 FANCL KCNQ1 PRKD1 KCNQ1OT1 TBX1 SALL1 VANGL2 PRPF8 TERF2IP POLR1D TAP1 IL6 HNRNPU CDKN1C COL17A1 ITGA6 IDS TRAPPC4 PLOD1 DHDDS ABL1 BUB1B GFI1 MDM2 COL5A2 ARFGEF2 ADAR EYS ABCG5 FANCI EPB42 KMT2A FGFR3 VHL RP2 RPGR PRPF4 PDE6B FGFR1 SLC35C1 CDKN2B CYP1B1 B3GALT6 C1S MYOC FBXW11 CPLX1 SEC24C BRIP1 NRL PSMB8 PTPN22 GBA SMPD1 CYP26C1 GTF2I USF3 TNFRSF11A RETREG1 LYST IL12B SEMA3E ARL2BP SOS2 OTUD6B DOCK3 AUTS2 IGF1 TRIM37 DDR2 MAN1B1 ALX1 POMGNT1 PRKCD CLRN1 SETBP1 SPECC1L AIRE ACVR1 ARHGAP31 RBBP8 GATA5 TNFRSF11B CREBBP CDH1 COL3A1 CYP27A1 KRT83 NTNG1 TCF20 IL12A ENPP1 UBE2A RP9 SMARCAL1 CTC1 EFTUD2 SOX9 MRAS FZD2 FSCN2 FKBP10 CRIPT APOC2 TRAF3IP2 KRT2 ADAMTS2 ARL6 RECQL4 NBN PLCB4 TYRP1 PCNT POLR1C MEN1 KIAA1549 SPTB TERC CERKL JUP LETM1 SPRED1 AIP POLR3A VANGL1 TBXT BCL2 PSAP OFD1 CD96 TAPBP ACTB CCL2 IFNG COLEC10 CTSC ACD PGM3 CTCF TTC8 KCNAB2 SNAI2 APOA1 APOE FLT4 GJB3 ST3GAL5 NPM1 TMEM260 KAT6A BTK FERMT1 CDC42 RET MSH6 RPE65 PPARG IL17F PERP CDKN2A LPAR6 PUS3 XPA GBE1 CDHR1 MED12 NOTCH2 GJB4 GORAB PMVK GABRD MMP1 CCN2 ZNF408 TRIP13 HGSNAT TGFB2 H1-4 UBE2T NTRK1 C1R ELOVL4 SLC4A1 RAF1 ELANE IL7 ABCA4 SCN9A SPOP PPOX HSPA9 TCF4 CTNND2 TMC6 SMO CPOX REV3L RASA2 EXTL3 DOCK6 APOA2 ARID1B CNGB1 BAP1 NAXE KIF15 PARN TRPV3 BUB1 FANCB JAG1 ARF1 IL10 SCAPER VPS13B RREB1 TANC2 AQP5 KIZ RP1L1 ITGB2 HIRA CDH3 GSC DST ECM1 SNRPN TGM5 A2ML1 MAFB GPC4 DSE MLH1 CRX PIGN TTPA RAD51C PROS1 CHUK FAT4 SLC2A10 SKI PROM1 NCF1 NECTIN1 DSC3 UROS MYH3 SASH1 EDN1 GHR IMPG2 CLEC7A ROR2 WRAP53 CTNNB1 SLC17A9 CHST14 NHP2 IRX5 DHCR24 PDE6G CRB1 BCOR FUZ APOB WNK1 RASA1 OCA2 SPATA7 PRPF3 PRCD NXN GPC1 SMC3 HLA-DQB1 MGP RDH12 CUL4B EED KRT1 CTNND1 TULP1 FKBP14 GNA14 IL17RC NGF PRKACA WDR1 SPTLC2 SLC25A24 SALL4 PPP1CB WASF1 PRPH2 TLR4 ARMC5 ARL3 IL17RA PLP1 EDARADD GUCA1B TMC8 TRAF6 CTBP1 BPTF DEAF1 HAVCR2 TUB BCL6 RHOA CDH23 FGFRL1 LTBP2 LRP1 NSMCE2 AK2 FAM161A MAP3K7 DYRK1A PRPF6 MPL TYR TBX4 BCORL1 FLCN DLG4 TASP1 GRHL3 PLAG1 SYT1 HK1 HLA-DPB1 LZTR1 RFWD3 KRT6B TP53 CITED2 PTH1R HIC1 HP_REGIONAL_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REGIONAL_ABNORMALITY_OF_SKIN KDM6A CLIP2 SALL4 UBR1 COL17A1 PUF60 SOX4 NALCN SMPD4 XYLT1 PEX5 IFT122 LONP1 FGFR3 ARID2 RB1 TPM2 XPC DDB2 GDF5 MTOR GPC6 PIEZO2 CHRND THOC2 KRT10 TSEN15 GJB2 KANSL1 KRT5 PLOD2 AKT1 FBXW11 CPLX1 HDAC8 SEPSECS MEG3 GTF2I NSD2 TSC2 ASXL1 GSN TNNI2 ACTL6A RNU4ATAC KCNJ8 RIPK4 WDR37 PTCH2 STAT3 NECTIN1 RAB3GAP1 LAMB3 RPS23 ATP2A2 SOS2 IRF6 B3GLCT TELO2 BRF1 LAMA3 TBL2 DOCK3 AUTS2 IGF1 CHRNA1 FKBP10 CEP55 SOS1 SMC1A LMX1B TCF4 PEX6 EYA1 BMPR1B NHP2 ATP6V1B2 LAMC2 PLAA PEX19 HRAS SETBP1 VAC14 LIMK1 FGFR2 FLG NLRP1 MYH3 NUP88 SMARCAD1 PEX1 MSL3 NTNG1 TCF20 BRAF GATA1 KRT14 CTSB TRPS1 CKAP2L GJB6 KRT1 ADAM17 MRAS DHCR7 SOX18 TGM1 BLM YY1 SMC3 RAB11B PEX2 CHRNG DPH1 RECQL4 NOP10 GMPPA AIP DPF2 TRAPPC11 TGDS KMT2E LETM1 GPKOW DLX4 BHLHA9 WNT10A AAAS USB1 PEX11B UBE2A CD96 MED25 RPL10 PTCH1 RBM10 PKDCC RETREG1 PIGS CTSC PEPD PIGL SLURP1 HPGD PDHA1 ITGB4 SMARCD1 DDX11 KCNN3 CTCF RIT1 KCNH1 MAP2K1 KRAS IFT57 STXBP1 EFNB1 COL7A1 FGD1 FERMT1 DSP SLC25A24 PTEN TCF12 CSTA COL2A1 KRT9 PERP KMT2D PSMD12 ARID1A B4GALT7 MUSK RRAS LBR BMP4 KAT6B ELN STAG1 AMACR PLEC SMARCC2 KDSR FGF9 DPAGT1 C1R ERCC4 TBL1XR1 TERT WDFY3 RAD21 ASXL2 SMARCB1 PEX12 KRT6A SCN9A CSGALNACT1 PACS1 RSPO1 APC MBTPS2 DOK7 HOXA13 COX14 ZNF469 RRAS2 ATP6V0A2 NRAS RASA2 NECTIN4 DOCK6 MYT1L KIF1A ARID1B VPS33A TRMT1 ACTL6B TRPV3 DIS3L2 PIK3CA AAGAB RAB3GAP2 NOG FLNA KCNK9 NUP188 ZNF462 MED13 GTF2IRD1 DLK1 TSC1 PKP1 TANC2 RFC2 HNRNPK PEX13 VPS51 SEMA3E RPS6KA3 ADAMTSL1 COG6 EZH2 RHBDF2 PHGDH ATR PIGN IVNS1ABP TGM5 DDX6 SLCO2A1 LIFR A2ML1 DSE GPR101 RAF1 ERCC6 SMARCE1 MED12 TSEN2 PEX10 SETD5 CHD7 LRP4 FOXP1 SUFU SMARCA4 MED12L SLC39A4 MCTP2 TSEN54 GLE1 KRT16 XPA SMOC1 EHMT1 ANKRD11 SHOC2 ANAPC1 MYOD1 CDK19 NAA10 OFD1 PLOD3 KRT17 CHST14 CBL MAP1B ZMIZ1 CIB1 MAP2K2 VPS13B MST1 ITCH PPP2CA PEX14 GJA1 NIPBL ERCC3 WNK1 ABCC9 TWIST1 NBAS UBA1 SIN3A CHST3 EMC1 NXN EXTL3 BCOR MMP2 SPECC1L PIGQ ERCC5 SOX11 PEX26 SVBP RTL1 PTPN11 FIG4 CD151 CDK10 WAC DHODH CCBE1 PEX3 ESCO2 KMT2A TFAP2A PNPLA6 MTX2 GPR35 EXT1 KRT83 RAPSN MMP14 PEX16 RLIM ERCC2 EP300 CTBP1 BPTF PAX1 ATRX SDR9C7 ROR2 FGFRL1 G6PC3 CREBBP HDAC4 MAP3K7 ADNP TSEN34 SLC16A2 PLOD1 TBX4 BCORL1 ITGA6 BAZ1B SLC18A3 TASP1 NGLY1 SLC39A13 LZTR1 PORCN TP63 KRT6B TNNT3 RIN2 SERPINB7 ZC4H2 NFKB2 DKC1 PSAT1 TRAPPC4 UBE3B HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR LYST UROC1 TINF2 UBR1 NPM1 TYRP1 TYR PADI3 TERC MYO5A OCA2 DSTYK PIGN PAX3 PAH RTEL1 RMRP LPAR6 PARN ABCA2 RAB27A KANSL1 ESCO2 PRKAR1A SLC45A2 TERT USB1 NOP10 TGM3 AP3B1 MLPH MC1R PDE4D CTC1 WRAP53 TP63 UBE3A NHP2 SLC17A5 ACD DKC1 GNPTAB HP_DRY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_HAIR BCS1L GJA1 ERCC6 RPL21 ASL KRT17 LPAR6 WNT10A PADI3 SVBP ERCC8 PQBP1 GNPTAB KRT74 HP_ACQUIRED_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN KDM5C KRT81 IKBKG KRT86 DSG4 TP63 NR3C1 DMPK APC ECM1 ITGB4 PADI3 ANTXR1 TGM3 PQBP1 ALMS1 KRT83 NECTIN4 CNBP COL17A1 IL2RA ZMPSTE24 BLM HR PORCN WNT4 LMNA HP_ABNORMAL_HAIR_QUANTITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_QUANTITY KDM1A KDM6A DSG4 NDUFA4 UBR1 NDUFA13 CDH11 SOX4 FSHR FOXL2 XYLT1 GNRH1 IFT122 SF3B4 RMRP KCNH1 SUZ12 TINF2 ABCC9 FGFR1 SPATA5 BTNL2 CEP152 XPC DDB2 RTEL1 HR EOGT IFT27 KDF1 NOTCH1 NR5A1 KANSL1 CREBBP IDS TRPS1 LIG4 LSS PRKAR1A TBC1D20 HDAC8 ALOX12B SLC29A3 TBX15 ALOXE3 ARID1A CENPJ KCTD1 ITGB4 KIFBP HTRA1 CBS NSDHL ASXL1 GSN NSUN2 RNU4ATAC KCNJ8 SEC23A NDUFA12 RAD21 BSCL2 CLDN1 GLI1 NECTIN1 MSTO1 KRT74 PDHA1 BPTF ALDH18A1 CYP4F22 BRF1 LHB B3GALT6 MT-ND5 CDON NFKB2 DEAF1 ZMPSTE24 PADI3 SOS1 WDR11 SETD5 MEN1 CTLA4 RUSC2 COL18A1 MT-ND6 FLNA NHP2 APOE CARS1 LAMC2 WNT10A KCNK4 GATA1 TTI2 VAC14 SATB2 ERCC8 KRT10 MAP3K1 FOXN1 NBN RAB3GAP2 TP63 EDNRA BCS1L MBTPS2 HLA-DRB1 MT-TL1 UQCRFS1 SMARCA2 CERS3 TGM3 DCAF17 GJB6 NDUFS2 COG7 PLK4 LPAR6 SMS CDSN ODC1 DCLRE1C IRAK1 SOX18 CENPE NDUFA9 ST14 BLM TNFRSF1B SMC3 SKIV2L DKC1 DPH1 PYCR1 WRN PKP1 PSMC3IP IGF1R AIP PAX3 MAF HSPG2 SPINK5 EDARADD TTC37 CHMP1A HLCS HMGA2 FUT8 DLX4 ANAPC1 GJB2 MT-TF KLF13 MED25 GNA11 CDH3 SHROOM4 RAG1 UGDH ZFPM2 WDR19 PIGL NDUFAF6 ALX4 ABCD1 SMARCD1 PQBP1 RPL10 TWIST2 BBS9 TACO1 MAP2K1 ATP6V1B2 DYNC2LI1 TRAIP ZBTB20 PPP1CB ERCC2 NR0B1 PEPD ABCA5 TACR3 AKT1 IL1RAPL1 GTF2H5 NDUFV2 NR3C1 UBE3B SLC25A24 AMMECR1 RAB3GAP1 TRAPPC9 NIPAL4 NUS1 AEBP1 IFT172 FOXE1 PHF8 DSP SLC19A3 ATP7A NDUFB8 NSD1 TAF1 AR FHL1 GJA1 TRPV3 WDR81 B4GALT7 RRAS LTBP3 VDR RNF113A NPHP1 FOS PDGFRB FGFR2 STAG1 MT-TW RIT1 COG4 NOP10 ITGB6 ANTXR1 NRAS SMARCC2 WAC LIPH ATP6V0A2 ERCC4 WDR35 CWC27 TTC8 KNSTRN EDA LMNA NKX6-2 RERE TMCO1 SDR9C7 POC1A KCNMA1 KIT INSR LAMB3 CACNA1G TBX3 HPGD NUP107 SURF1 ECM1 VPS37A IL7R CDH1 RRAS2 CAVIN1 NECTIN4 USP9X CASR MAPK1 CDH23 NANS AXL SMC1A TERT RIPK4 SRCAP LEMD3 BBS1 SOX6 DNAJC21 PROKR2 IKBKG SMCHD1 H6PD CAV1 ESCO2 NFKB1 RBM28 ITGA3 RAG2 RAI1 MT-TS2 GATAD2B TUBB HRAS EZH2 MED13 WT1 ORC6 PIK3CD HSD3B2 USP8 MDM2 ALG9 ERCC6 KNL1 SMARCE1 TGM1 ERLIN2 HPD EXT2 SLC39A4 CDH2 MSX1 IDUA EHMT1 ABHD5 SHOC2 CCBE1 SETD2 TRIO DHX30 NEPRO KRT71 FGF3 ACVR1 KRT83 KCNN3 KDSR STAT4 RIN2 NEK1 KDM5C BRCA1 LIPT1 NAGLU ANKRD11 KRT17 CBL TLK2 UQCC2 SLC7A7 SNRPE PHIP PEX6 FMR1 ADAMTS3 CNOT2 CD28 CYP19A1 ERCC3 SREBF1 DOCK7 CUL4B KRAS CYP17A1 FGF8 ALX1 MMP2 NFIX EBP STUB1 PORCN USB1 ERCC5 PLAA SOX11 DUSP6 MTFMT CCDC28B MT-TQ CDK10 NIPBL KRT16 CANT1 POR PRDM16 IL2RA TFAP2A DNMT3A MTX2 AGPAT2 TARS1 ADAT3 COX15 TWIST1 KRT86 MMP14 DMPK PCGF2 TBCD TAF6 CST6 HFE ARX NF1 EDAR EP300 IFT52 MESD GLI3 FTL TCOF1 EPS8L3 HDAC4 GUSB PPARG AFF4 TALDO1 PPP2R3C GLB1 EDA2R PUF60 PHF6 PRKD1 SDCCAG8 EVC2 POLR1D HNRNPU FRMD4A GNE COL17A1 SASH1 NDUFS4 PIGU KLHL7 CSNK2A1 KISS1 CWF19L1 IFT43 SMPD4 DSG1 SUCLA2 PNPLA1 WNT5A ARID2 FLI1 TRMT10A KMT2A ATR MT-ND1 MCCC2 CYP11B1 OFD1 PRKACA ZNF711 RBBP8 OCRL ADAMTS2 RBPJ PSMB8 PTPN22 PET100 GTPBP2 NEU1 SETBP1 AXIN2 MT-CO1 EVC SMARCD2 COL11A1 DMRT3 FRAS1 SOS2 CHD7 B3GLCT DLX3 SNX14 SOX10 PRKCD AIRE GATA4 ARHGAP31 LMNB2 PPP1R15B MAP3K7 COL3A1 ADA AHSG SGSH C8orf37 RAB18 PTDSS1 MPLKIP BRAF CCDC47 KRT14 UBE2A KRT25 CTC1 ARL6 NOTCH2 ALMS1 MRAS FZD2 CERT1 CSTB PROK2 NDUFV1 MBD5 MAB21L1 ZIC2 SMARCA4 RECQL4 SPRY4 PCNT PAPSS2 POLR1C PLEC DPF2 TERC ABCA12 ECHS1 JUP TMEM94 FOXRED1 POLR3A ASL SLC30A2 TSR2 NDUFAF3 WNT10B KISS1R TRIM32 CHRNA7 BBIP1 MT-CO3 PSMD12 CTSC PEX7 AP1B1 KANK2 NFKBIA CTCF DHX37 KCNAB2 IRF6 TAC3 LAMA3 FGF17 ACD BTD ANOS1 VAMP7 GNRHR GJB3 ATP6V1A NPM1 NDUFS7 EXOSC2 MAN2B1 SOX9 KREMEN1 BTK BMP15 SRA1 CDC42 KAT6B SLITRK1 PERP COL7A1 SDHA GJB4 SEMA3E NDUFAF2 RPL21 GABRD BCORL1 NDUFAF5 FAM111B PEX1 WNT4 KRT81 NTRK1 HOXC13 MT-ND4 ATP6V1E1 UGP2 CLMP LRPPRC SMARCB1 KRT6A PACS1 FOXP3 NDUFA2 SPOP PPOX BNC1 HSPA9 WDPCP MGAT2 SULT2B1 LZTFL1 SMO SPP1 CPOX RASA2 ELMO2 ZNF341 ATRIP ASXL3 FLII ARID1B PARN VPS33A NDUFA10 SNAI2 CKAP2L NSMF GTF2E2 SRD5A3 BBS10 VPS13B FEZF1 PTEN TBCK IL2RG POLR3H SPIDR BCL11B CDKL5 EDN3 SLCO2A1 A2ML1 COX5A KLHL24 GPR101 RAF1 SMAD4 MED12 PIGN PACS2 KMT2D CYB5A DVL3 SKI TUBGCP2 XPA APCDD1 BMP2 DSC3 CNP CHSY1 UROS BBS7 IQSEC2 DVL1 PHGDH NDUFS8 MT-TH NDUFS1 FREM1 AIMP2 WRAP53 MAP1B DLK1 MAP2K2 UROD DLL4 KRT85 EDNRB PNPLA6 NXN GNAS MGP RNF125 PIK3R1 CEP290 CTNND1 CDK5 PTPN11 NDUFS3 GNA14 LIPN FIG4 APC2 SRY DMXL2 SLC1A4 MKKS BBS5 MEG3 MITF BBS4 RTL1 TRMT1 TTC7A MMP1 BANF1 FSHB EXT1 BBS12 MC1R GNS ARMC5 HS6ST1 XRCC4 TRAF6 ROR2 FAS RHOA DOCK6 FAT4 MKS1 LRP1 DOLK CCDC141 ADNP TASP1 HGSNAT POP1 LZTR1 MRPS22 STING1 KRT6B MAPRE2 HLA-DRA EBF3 TP53 ARSB MT-CO2 BBS2 WWOX SCO2 HP_WHITE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_HAIR USB1 CTC1 PAX3 TINF2 NPM1 WRAP53 PARN RTEL1 NHP2 TYR NOP10 PADI3 MYO5A TGM3 TERC DKC1 MC1R OCA2 GNPTAB SLC45A2 TERT HP_PATCHY_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR KIT EDN3 EDNRB SNAI2 LMNA SOX10 MAFB PAX3 PEPD MITF KITLG PTPN22 FAS TFAP2A CHN1 SALL4 TMCO1 WRN HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR KCNJ10 PTPN11 RIT1 ESRP1 A2ML1 SOS1 RAF1 LZTR1 CHD7 RRAS2 NRAS RASA2 FOXI1 SLC26A4 SOX10 MRAS KRAS FGFR2 SEMA3E CBL RRAS SOS2 HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL SOX10 PTPN11 MRAS KRAS RIT1 A2ML1 CBL SOS1 RAF1 LZTR1 RRAS RRAS2 NRAS RASA2 SOS2 HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL ERF EYA1 GJB2 PRRX1 POU3F4 CHN1 MAFB POLR1C SALL4 GJB6 FGFR3 FGFR2 TWIST1 AKT1 OTX2 SIX1 PTEN TCOF1 POLR1D HP_NARROW_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_INTERNAL_AUDITORY_CANAL ERF PRRX1 CHN1 MAFB POLR1C SALL4 FGFR3 FGFR2 TWIST1 AKT1 OTX2 PTEN TCOF1 POLR1D HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_INNER_EAR USH1G SIX5 KCNJ10 PRRX1 POU3F4 A2ML1 EYA1 MAFB POLR1C USH1C SOS1 RAF1 CHD7 COCH FGFR3 FGFR2 TWIST1 RRAS2 NDP NRAS RASA2 FOXI1 COL4A6 CHN1 SLC52A2 PCDH15 SLC26A4 ORC1 RRAS CLRN1 SOX10 SIX1 TCOF1 MT-TS2 PTPN11 MYO7A CEP78 RIT1 ESRP1 FGF3 SETBP1 TIMM8A LZTR1 GJB6 DDX11 CIB2 OTX2 PTEN POLR1D ERF GJB2 MRAS KRAS SEMA3E CBL HARS1 SALL4 ARSG CDH23 ESPN AKT1 PEX6 SOS2 HP_ABNORMAL_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CNS_MYELINATION RNASEH2B NDUFA11 NDUFS4 HSPD1 NDUFA4 PIGW TUFM NDUFA13 SURF1 MAT1A ACER3 MCOLN1 EIF2B1 PGAP3 SMPD4 ERCC3 RNF113A ADGRG1 KIDINS220 COX14 SHANK3 NADK2 TIMMDC1 ACOX1 NDUFV1 TRMT10A SPATA5 DAG1 SAMHD1 ABCD1 PSAP NDUFS6 CTC1 MMACHC AP3D1 POLR3A SLC25A12 TKFC CYB5A NDUFA10 SOX10 SUMF1 PRPS1 POLR2A FUS POLR3B PRF1 PGM3 PYCR2 NUBPL PLP1 UPB1 FAM126A SLC33A1 NUP188 GTF2E2 SP110 ISCA2 PET100 LIAS INTU ACY1 POGZ HTRA1 NKX6-2 PC ABAT TGFB1 POLR1C NDUFB10 SDHA PURA MT-ND2 NDUFA12 DARS2 CLTCL1 MT-ND1 MTTP PDCD1 POU3F3 PDHA1 MTHFS ADAR SPTAN1 PDYN ERCC6 ALG9 ALG14 TIMM22 ARSA NRROS GALC PRKDC ZMIZ1 TRAPPC11 LMX1B BCAP31 NDUFAF2 CSF1R TXN2 ZNF335 EIF2B2 MLYCD CNOT3 PPP1R15B INSR GTPBP3 ALDH5A1 PEX1 CARS1 TMEM63A HIKESHI ISCA1 NDUFA1 PIGV ERCC1 EIF2B3 TUBB4A ERCC8 MT-ND3 NDUFAF5 SHPK PIGL BOLA3 MPLKIP NDUFAF3 GRM7 CDK19 SIGMAR1 NDUFS3 NDUFS2 NDUFS8 NDUFB11 VPS11 NDUFS1 FA2H SNIP1 NDUFB3 GAA DHX37 AIMP2 NARS1 NARS2 GABRA2 LIPT1 DALRD3 RNASEH2C ASPA NDUFA6 RERE NDUFA9 NDUFV2 IFIH1 ADSL TREX1 COX6B1 GFAP CYB5R3 EIF2AK2 NDUFAF1 EPRS1 CNTNAP1 GDAP1 PGAP2 GLUL GLRX5 HLA-DRB1 ECHS1 QARS1 FOXRED1 EIF2B4 GPT2 ALDH3A2 TBCD DARS1 MADD ALS2 SMG9 TMEM126B EXOC8 ITPA STXBP1 DDX6 TBC1D24 UGDH PKDCC MTFMT PEX7 NDUFAF6 GAN SLC1A4 PHGDH PEX13 ZC4H2 EIF2B5 PNPT1 AHCY TACO1 GJC2 FBXL4 TMEM106B PIGY ACBD5 SLC16A2 L2HGDH ERCC2 D2HGDH TARS1 AARS1 ADAT3 RARS1 COX15 MMUT PEX19 HSD17B4 YIF1B IDUA GTF2H5 NDUFB9 NDUFS7 KDM1A DDOST NDUFAF4 RNASEH2A SLC19A3 NDUFB8 PLEKHG2 GABRA5 IBA57 WDR26 SETD1A LMNB1 DYRK1A SPG11 RNASET2 BMP4 PIGO PIGG TRNT1 AIMP1 SLC12A5 ATP6V1A EDNRB CTNNB1 SNORD118 PEX16 ACTL6B NDUFAF8 ADARB1 FOXP1 RMND1 PARS2 ATXN2 AIFM1 PIGU LRPPRC TREM2 NDUFA2 RBM8A SCO2 HLA-DQB1 HP_PROPORTIONATE_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPORTIONATE_TALL_STATURE MEN1 FOS CDKN2C DNMT3A CDKN1B PPARG CDKN1A BSCL2 CAV1 CDKN2B AIP FIBP NF1 CAVIN1 AGPAT2 HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY FERMT1 GJB2 GLE1 LORICRIN TBC1D24 POMP SMARCAD1 HP_CAESARIAN_SECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAESARIAN_SECTION PTCD3 CACNA1D TAF1 CYP11B1 POLR3A CYP11B2 OPA1 HP_DEATH_IN_ADOLESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_ADOLESCENCE MADD PET100 DSP COX8A PSMB8 EXOC8 HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION MAGED2 CLCNKA CUL3 KLHL3 BSND SLC26A3 WNK1 SLC12A1 WNK4 KCNJ1 CLCNKB HP_FETAL_ULTRASOUND_SOFT_MARKER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_ULTRASOUND_SOFT_MARKER HSPG2 PEX11B PSEN1 CHMP2B SQSTM1 PIGW DMPK TAPT1 PACS1 PEX5 PIGY PGAP3 A2ML1 PEX26 PEX12 SCARF2 MAPT WASHC5 ALG9 SOS1 RAF1 MKS1 GRN PEX13 UBA1 RRAS2 PGAP2 TREM2 C9orf72 HOXD13 GATA6 NRAS RASA2 SLC35A2 VCP PSAT1 WNT3 PIGN HRAS CCDC22 PEX19 FOXF1 PEX6 BNC2 KANSL1 TMEM106B MCTP2 RRAS PIGV PIGO DDX6 EFNB1 TRAF7 RNU4ATAC PEX2 PIGL TBC1D24 PTPN11 RIT1 SLC26A2 GATA1 ENPP1 LZTR1 EBP TRIP11 PEX10 FANCB OFD1 TBCK POR ABCC6 PEX1 HNRNPK PEX3 MRAS KRAS PEX16 CBL PEX14 SOS2 HP_ABNORMALITY_OF_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COORDINATION CLIP2 NDUFA4 PDHX GPHN FSHR SYNE1 ERCC3 MAG KIF5A SLC9A6 ATXN7 VCP SLC1A2 KCNA1 PROKR2 ATP13A2 B9D1 GLB1 ARCN1 TOMM40 SOX10 IL17RD STAT4 DNMT1 SIK1 POLR3B BEAN1 PRF1 TOP3A IQSEC1 ARL3 MT-TK IL23R GBA2 XRCC1 MT-TE HTRA1 GSN B4GALNT1 CTSD PEX10 KATNIP NDUFA12 WHRN HPDL NEFH VPS13A MT-TV TANGO2 MYORG MSTO1 ABCB7 GABRA2 TWNK GALC TBC1D24 DEAF1 NELFA COL18A1 PEX6 PSEN1 PMPCA PYCR2 SDHA AKT1 CARS1 MAPT NDUFA1 TMEM67 POLG2 ERCC8 SLC22A5 VAMP1 MT-ND4 DNASE1L3 TRPC3 SCN1B PNPLA6 NFASC MAST1 NDUFS2 ATP1A3 TANC2 C12orf65 GAMT PANK2 FGF12 ATAD3A LAGE3 NEB TTN NPAP1 SPTBN2 YWHAG SNORD116-1 MARS2 PDYN CCDC88C KIF1C PIEZO2 RRM2B KCNC3 NDUFAF1 CISD2 YWHAE CACNA1A SEMA3A MPZ TMEM216 KCNB1 PDZD7 FA2H MKRN3 RFC1 COL6A3 POLG CLCN4 SLC30A10 MT-TF SOD1 PEX7 TECPR2 ATN1 SYNGAP1 RTL1 BSCL2 PIGS ZNF365 DLAT UBE3A ABCD1 RPL10 TACO1 ACBD5 ITPR1 FASTKD2 PRNP PIGK SLC6A5 DCX ESPN TAT NONO MPV17 TARDBP GTF2H5 ERAP1 TPP1 ACTA1 NF2 HACE1 CEP120 RTN4IP1 ATXN3 SLC19A3 RDH11 NDUFB8 NSD1 TAF1 LAMB2 GJA1 SCARB2 FIG4 COG5 OPHN1 DLD ZEB2 SDHB MEFV GLRX5 HLA-B COQ5 CLN8 GABRA5 COG4 MYPN STXBP1 ERCC4 COG8 AMACR HEPACAM ROGDI NKX6-2 SLC12A3 MT-TP MRE11 SCN9A KCNMA1 NUTM2B-AS1 KIT CACNA1G BMPR1B NUP107 SURF1 PGAP3 NTRK2 HARS1 DNAJC3 FGF17 MKS1 VPS35 NDUFS6 ATCAY CP TPM3 SEC23B TERT FEZF1 HIBCH TDP2 GTF2IRD1 SZT2 POGZ THG1L DARS2 AFG3L2 TGFB1 PDE6D SLC25A46 PTS AHDC1 MT-TS2 PEX14 OPA1 PDCD1 PRKCG EZH2 PMM2 PIK3CD FHL1 GCH1 TCTN2 RFX5 APOB HCN1 CDK19 SDHD PTRH2 PLA2G6 MT-ND6 RFT1 CEP41 SETD2 DHX30 MYO5A PURA GLS LIPT1 IL12A-AS1 INPP5K GOSR2 STN1 NDUFV2 CPLANE1 MT-ND1 ANO10 EIF2AK2 SPART SLC25A1 MT-CO3 FAT2 DNAJC19 PRDM8 STUB1 VLDLR ACOX1 NDUFS1 CEP78 NDUFS8 PLP1 HERC1 PRICKLE1 SGCG SLC17A5 KBTBD13 SNRPN GJC2 PIGY NEU1 KCND3 COLQ MT-TH MVK COX15 PEX2 UROC1 MME AARS2 NDUFB9 DMPK TBCD ATP2B3 MED13L NPHP1 ERCC2 CA8 RNF216 NDUFS7 SLC6A1 RAD51 ACOX2 CYFIP2 PSAP APTX LMNB1 ADA2 DLL1 COL6A1 POLR3A PIK3R5 APP PIGO ARX CAPN1 RARS1 MT-ATP6 ARSA RUBCN NPC1 FKRP NDUFS4 SLC18A2 SARS1 SAMD9L LNPK SLC25A4 DHDDS DKC1 CWF19L1 ARV1 PIGW SQSTM1 ARL13B PDGFRB GABRG2 KCNQ2 AP1S2 MOG TMEM231 STAT3 TTPA AP5Z1 HNRNPH2 GLRB FUS MLXIPL DMXL2 MBD5 PRPS1 NTNG1 KIF1A SPG7 DCC MYO7A PTPN22 PEX1 GBA SCN8A MPDU1 USF3 MT-ND2 DHFR MT-CO1 LYST SLC35A1 SPR COQ2 SLC20A2 CRPPA KCNC1 SPG11 TELO2 PDE10A CHD2 CC2D2A SNX14 PCDH19 ARHGEF2 FTL SLC25A22 TBK1 TRAPPC11 NDUFAF2 RIPK4 PEX13 FRMD4A HINT1 GPAA1 PMP22 PLD3 PWAR1 MT-ND5 TRIO SHMT2 MT-TL1 KIF1B CEP290 NDUFAF3 SCN3A IL12A SIGMAR1 CTSH TBCE CIB2 AGRN HLCS DNAJC5 RNASEH1 NOL3 ARL6 NDUFA6 LRRK2 SUFU CAMTA1 CEP104 PDE8B CDKL5 NDUFV1 MAB21L1 SNAP25 MTFMT RPGRIP1L RFXAP TRAF7 GMPPA EIF2S3 ASAH1 PGK1 SPTB LMNB2 FXN NFIX SLC2A3 GMPPB COL13A1 MECP2 AAAS MEG3 LARGE1 PAX6 C9orf72 NOP56 PGM3 TTR CHCHD10 NUBPL REPS1 FMR1 SUOX BTD ANOS1 AHI1 NOTCH2NLC MT-RNR1 WASHC5 NSMF SYNJ1 APC SLC2A1 MLC1 MT-TW PCNA CLN5 DYRK1A COL6A2 BCKDHB GABBR2 UBA5 XPA GBE1 TBC1D23 TREM2 CNKSR2 GALT KCNA2 PIGG NDUFAF5 SLC9A1 DBT GABRA1 NDNF PIBF1 ELOVL4 SLC4A1 ERCC6 ATP7B ACTL6B GJB1 SETX WFS1 CTSF MFN2 PPP1R15B TIMMDC1 DNAL4 CTBP1 AP2M1 TUBB4A DNAJC13 PARN ABCC8 ELP1 INPP5E SNAI2 CLRN1 KIF7 IL10 SRD5A3 PDGFB POLR1C SPAST CYP27A1 PLEKHG4 PNPLA8 BAP1 SPIDR UBAP1 GFPT1 CLTC ARG1 PNKP ATG5 SNAP29 KCNJ11 PEX26 NDUFAF6 MT-TN POU3F4 TMEM63A CRAT BRAT1 SLC5A7 CIITA ABHD5 ATXN1 C19orf12 SET GRID2 NDUFB3 PTEN MAGEL2 SCYL1 GRIA2 CCDC141 RNF168 KCTD7 RNU12 CTDP1 COX6B1 UBTF DNAJC6 SIL1 GRM1 CYP7B1 CHD7 MT-CYB ZNF142 ATPAF2 PIGP PYROXD1 BBS1 NADK2 ZFYVE26 DALRD3 NDUFS3 SLC39A4 SCN1A NEFL LMBRD1 PPP3CA FBXL4 TMEM106B PEX16 ALG14 DEGS1 TCN2 KIAA0586 NUP214 SLC52A2 OXR1 UCHL1 DPAGT1 SLC13A3 TMEM237 HUWE1 TERC PWRN1 RAI1 TUBB WWOX ELN CAV1 INS TTBK2 MTPAP MYD88 DUSP6 GIGYF2 SPRY4 SNORD118 SYT1 ERCC5 PHYH CACNA2D2 CSTB PIK3CA ARSG MT-CO2 SLC26A4 TIA1 HIC1 TRAK1 NDUFA13 ARMC9 CXCR4 FDXR TMEM240 ADGRG1 LARS2 TINF2 LYRM7 BCS1L XPC DDB2 MMACHC CACNB4 GPI EPM2A NR5A1 PIGQ PAK1 SMARCB1 NPC2 FRMPD4 ALG6 PMPCB POMT1 MT-TQ SYT2 USH2A MT-ATP8 RPIA OFD1 PDHA1 SFXN4 SLC6A19 ASS1 TBL2 SLC19A2 CHAMP1 ADPRS ADGRV1 HESX1 TCF4 NKX2-1 HERC2 SCN2A UBAC2 SLC1A3 WDR81 ABCA2 NF1 FGF8 NUP62 PSEN2 ERCC1 ADSS1 LIMK1 SIM1 SGCA GRIN2A CHAT ALG11 CLN6 AIFM1 GABRD SLC44A1 C4A NDUFA9 CPS1 HLA-DRB1 SLC18A3 COX10 PEX12 ABCA7 HLA-DQB1 PSMC3IP EPRS1 SLC46A1 PGAP2 FOXI1 PMP2 MTHFR SNORD115-1 TNFSF4 CCR1 PCDH15 AUH TCTN1 AARS1 DAB1 TMEM107 GRIN2D WDR11 RTEL1 PPP2R2B SLC16A2 FLVCR1 PAFAH1B1 IQCB1 RFXANK ABCA5 ATXN8OS NUS1 GABRB1 DOCK3 ANK1 ACADM HSD17B4 NDN DLK1 FGF14 DYNC1H1 TRNT1 SRPX2 MRPL12 TPM2 ATP8A2 SDCCAG8 GNB5 KNSTRN MICU1 COA8 TRAPPC6B KISS1R NDUFA11 SMPD1 DNM1L ATP6AP2 OTC RNF113A PODXL ACO2 SLC25A15 SPTA1 GCDH CSPP1 NANS GABRB2 ALG13 FOXP2 FAS FAM149B1 KLLN RFC2 AFF2 PLEC ATP1A2 KIAA0753 STX1B TMEM138 MT-ND4L AGTPBP1 NAGS PRODH PNP KCNJ10 SLC25A42 STIM1 BOLA3 EIF4G1 NEUROD2 GDAP2 HS6ST1 ADSL SMO USH1G ZNF592 HSD17B10 TUBA1A OPA3 SARDH TRIM8 ATP10A NHLRC1 CCDC28B BCKDHA CSF1R SDHC TARS1 PPP2R5D SLC13A5 ZNF423 NDUFAF4 CAV3 ATXN10 EP300 WDR73 ATM ETHE1 CASK HTT CHP1 BAZ1B MYO9A KLRC4 WARS2 EEF1A2 NGLY1 TH PROK2 GRN COA7 PRRT2 ITM2B OCA2 RAD50 DPM1 ZBTB11 GCLC ABHD12 NEXMIF SUCLA2 PEX19 SMARCE1 LONP1 TRAF3IP1 EPB42 ATL1 ALDH18A1 SLC35C1 SUMF1 VARS2 NECAP1 DGUOK COL12A1 PDX1 PET100 SYT14 GTPBP2 GTF2I IFRD1 TGM6 NTN1 NDUFB10 MTR TDP1 EEF2 SACS CTNNA2 GSS GLRA1 TPK1 SDHAF1 HADHB HIKESHI MT-ND3 COQ8A P2RY11 MPLKIP ASL HCRT GCK IRF2BPL CPLX1 CAPN3 YME1L1 DCHS1 ATXN2 L1CAM NEMF PEX11B RAB11B PDHB SLC6A8 ELOVL5 TBP NAXD ECHS1 LETM1 FOXRED1 ALS2 VWA3B JAM2 TMEM126B RTN2 ERMARD ALDH5A1 VRK1 PDP1 ACD ATAD1 COX20 GNAO1 TK2 KLHL41 POMT2 MAN2B1 INVS PPT1 OTUD6B FGFR1 WDR26 TACR3 WDR19 RNASET2 C12orf4 NAT8L PIGT TCTN3 LRPPRC DNM1 SEMA6B TSFM NDUFA2 BNC1 MFSD8 ALMS1 ALG2 TMEM70 TXN2 PEX5 CTC1 NAXE MAPK8IP3 NDUFA10 SGPL1 HEXB GTF2E2 SLC52A3 NSD2 ATP5MD MICOS13 SLC30A9 VPS51 POLR3H MTTP CDH23 IFT140 ADAR NARS1 PUM1 USH1C SMAD4 CEP164 RIMS2 TCF20 ATP6V0A2 DKK1 ATP6V1A PIGV PIGL UQCRQ SCO2 NDUFB11 HADHA NPHP3 TUBB3 HYLS1 ACAT1 LAMA1 GFAP GABRB3 MECR OGDH CUL4B RNF125 EED MT-TI CLCN2 APC2 TUBB2B AP3B2 TTC19 SNCA VPS13D FRRS1L TLR4 XRCC4 MMADHC CDC42 BMP15 MCOLN1 TPRKB PEX3 HMGCL CREBBP NPHP4 CACNA1B FKTN FLRT3 EDNRB HK1 MRPS22 PARS2 NDUFAF8 PI4KA SORL1 EBF3 FAT4 RORA CNTNAP2 HP_ANKLE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_CLONUS CAPN1 SPG11 ANO10 HTT UCHL1 STUB1 SPART GBA2 SLC39A14 ADGRG1 SLC52A3 GFM2 ZFYVE27 SAMD9L TIMM8A KIF5A FA2H ERLIN2 CYP7B1 KIF1A ATL1 SPAST ABCD1 PIGT RTN2 PSAP CARS1 SYNE1 POU3F4 REEP1 GALC SOD1 SELENOI ATP6AP2 RAB18 HP_KNEE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_CLONUS GBA2 SPG11 SLC52A3 KIF5A RTN2 SPART HP_CONGENITAL_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MICROCEPHALY CLPB TELO2 GRIN2A RELN TBCD NUP188 PHGDH FIG4 CTNNB1 ZEB2 SLC1A4 NDE1 DISC1 TXN2 PSAT1 TRMT10A SPATA5 FRMD4A PPP1R15B SMC3 EOMES MECP2 TUBB3 TRAPPC12 PIGH TSEN54 TRIO RBBP8 SPOP TBL1XR1 VAC14 HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR MEOX1 RHO SALL4 CDH11 RSPH4A TBX1 AIFM1 SF3B4 FGFR3 EYS MAP3K7 FANCI SKI GDF5 RP2 RPGR EYA1 PRPF4 PDE6B SLC35C1 CCDC114 SAG FGFR2 B3GALT6 FBXW11 CPLX1 FAM20C HDAC8 SEC24C BMP4 IFT140 NSD1 NRL SIX1 PTPN22 CCDC103 NSD2 GDF6 PAX1 CCNO ACTL6A C8orf37 ERF LRRC6 RPS26 EP300 ANKH CREB3L1 NEK10 CCDC65 OFD1 RPS23 BPTF MSX1 ARL2BP FRAS1 RP1 FGF10 TELO2 SRCAP DHODH RSPH1 TFAP2A AHI1 GAS2L2 DOCK3 GAS8 DEAF1 DDR2 ALX1 TSHZ1 POMGNT1 CLRN1 GP1BB SMC1A DNAL1 UBB TXNL4A DNAH9 CREBBP MASP1 CDH1 DNAI2 TP63 EDNRA ZNF513 GRHL3 DNAAF1 SLC25A11 NTNG1 TCF20 DNAH1 GATA1 PCARE TRPS1 COL1A2 RP9 COL2A1 POLR1B EFTUD2 GMNN OTOF SPECC1L NOTCH2 DCHS1 FSCN2 RPS28 ARHGAP29 SMC3 DNAAF3 CHRNG ARL6 RECQL4 POLR1C DNAAF5 KIAA1549 NEK2 CERKL PRDM5 TMEM216 KMT2E COMT LETM1 IFT88 VHL DLG1 ALX3 TSR2 RGR GJA1 IMPDH1 ENPP1 IFT172 PSMD12 NECTIN1 PIGL GJB6 NOG IRF6 PGM3 SPEF2 RAB23 TTC8 KCNAB2 TNFRSF11A SDHB B3GLCT RSPH9 MYCN DNAAF2 GNPTAB SLC25A24 AMMECR1 AMER1 MAX POU3F4 TTC25 ERCC8 ABCC6 USH2A RPE65 ARMC4 AGBL5 EDN1 ARHGEF18 NOTCH3 FLNB MAN2B1 KMT2D CDHR1 SDHC DLST PIK3C2A GABRD FREM2 ZNF408 FLNA HGSNAT SC5D HNRNPK SOST FGF9 RBP3 CA4 TCTN3 CCDC39 WDFY3 DNAI1 RAD21 ABCA4 RERE KIF1B LMNA NME8 SLC7A14 ERCC6 SNRNP200 TOPORS CCDC151 KDM6A PRRX1 ELMO2 SEMA4A MYT1L EPAS1 UFD1 FLII STAC3 IDH3A CNGB1 TRMT1 ACTL6B SLITRK6 RAI1 KIF7 BBS2 MED13 SDHAF2 FAM149B1 FH ZMYND10 SCAPER DNAAF6 RREB1 SMCHD1 POR OSTM1 TANC2 PDE6A CPLANE1 CFAP298 SGMS2 KIZ RP1L1 HIRA PDE6D STK36 SEMA3E GSC SDHD DNAAF4 KLHL7 SNRPB LRAT DDX6 KIAA0753 CRX SETD5 DNAH11 CHD7 CNOT3 POLR1D DLX4 CNOT1 FAT4 PROM1 BMP2 DVL1 DIAPH3 SDHA CCBE1 SETD2 MYH3 NF1 FBN1 IQSEC2 ACVR1 ZNF469 IMPG2 NEK1 GRIP1 GJB2 ANKRD11 FOXJ1 JMJD1C CDCA7 AHR TBX22 MAK ZMIZ1 PDE6G SPAG1 CRB1 CFAP300 ADAMTS3 DNAH5 NIPBL TWIST1 RET SPATA7 HOXA2 PRPF3 PRCD CCDC40 HYDIN NFIX IDS RDH12 PORCN CTNND1 LRRC56 TMEM127 TULP1 DHX38 ARID2 SVBP APC2 CFAP221 RLBP1 CNGA1 NR2E3 PRDM16 KMT2A DRC1 ZMPSTE24 LONP1 TMEM67 PRPH2 EXT1 REEP6 PCGF2 TTC12 RLIM DNMT3A ARL3 GALNT2 MDH2 GUCA1B IDH3B CTBP1 ZBTB20 ARVCF TUB BEST1 FGFRL1 TCOF1 PRPF31 FAM161A HDAC4 PRPF6 AFF4 MERTK BCORL1 ROM1 PRPF8 DNAJB13 LRP5 MCIDAS COL11A2 FKBP14 RSPH3 TRAPPC4 DHDDS HP_ESOPHAGEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_CARCINOMA STAT1 CTHRC1 MSR1 RNF6 APC ASCC1 TGFBR2 WWOX RHBDF2 DLEC1 HP_YOUNG_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YOUNG_ADULT_ONSET LYST ABCA4 TNFAIP3 MAGT1 CPOX MAPT ACTG1 EIF2AK4 SH3BP2 CD164 XRCC2 COCH GGCX EPAS1 IL36RN MEFV SLC4A11 CEP78 ATP1A3 GIPC1 HJV ALDH5A1 VSX1 TNNI3 FBXO7 SPRY2 HP_CHILDHOOD_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET SPG11 SYNE1 GUCY2D ATP6V0A4 DPAGT1 VPS37A SPART NLGN3 SYNE2 SMPX MEFV COL9A1 CEP78 PRPS1 CARMIL2 PLEKHG5 ACP5 SETD1A AAAS MYH7 DIAPH1 COL1A1 UFSP2 SCN1A XPC STAT3 MARCHF6 PSMB8 CLCN1 LAMA2 COL1A2 COA8 IL36RN PLCE1 EMD PMP22 TTN HABP2 KIF3B FLVCR1 GCH1 CRB1 GABRG2 LIMS2 TBCE MTX2 PEPD NLRP3 COL9A2 FRG1 CUBN ALAS2 TNFAIP3 PRNP CHRNA4 PLCG2 STXBP2 IDH3A PET117 NLGN4X SH3BP2 ARG1 KDELR2 GDAP1 CYP3A4 FECH ADGRV1 PLA2G6 DYNC1H1 ALDH5A1 ADA2 MMP2 LACC1 ABCA4 FLG CFB MECP2 TRNT1 CNP WT1 SNRPN AIRE MTHFR TACSTD2 RPS29 OCRL TMPRSS3 PNKD F2 TPM2 STX11 DMD TACO1 HPDL ALS2 NEMF TIMM8A F13A1 ITK POLA1 SVIL SAMD9 HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER SON SPECC1L FOXF1 GPC1 GATA6 INTU CNOT1 RFX6 HP_FACIAL_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_TICS PRRT2 SCN1A STXBP1 PCDH19 SCN1B GABRA1 SCN2A CACNA1A KCNQ2 KCNQ3 ATP1A2 GABRG2 SCN9A HP_NASAL_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_REGURGITATION MYO9A UBB TOP3A VAMP1 SNAP25 COL13A1 GRHL3 SYT2 CHAT SLC25A1 TUBB6 SLC5A7 SLC18A3 AGRN HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY SATB2 PDE10A DMPK PUF60 BRAF SNRPN GRM7 GFM2 UNC80 CREBBP HNRNPK PIGT CTCF TRMU GPT2 COX8A MT-TE EP300 PSAP DYRK1A CLTCL1 GALC KANSL1 NALCN HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY KDM5B ITCH TDGF1 NODAL PIGW CDON PGAP3 DLL1 PTPN23 LONP1 PRPS1 DISP1 PGAP2 TGIF1 FOXH1 CLTC PTCH1 SIX3 SPATA5 COG5 GAS1 TSEN15 ALS2 MBD5 FDFT1 HIVEP2 ZMYND11 SHH FUS PNPT1 PPP3CA DYNC1H1 UGDH TRPM3 SEPSECS TAOK1 SLC1A4 SETBP1 MYT1L PDHA1 COQ2 CSNK2B SLC5A6 MEG3 CACNG2 PIGY FGF8 RTL1 DEGS1 ASH1L GLI2 SMC1A GNPTAB DNM1L ZIC2 GRIN2B CAMK2B ASPA KCNQ5 GRIN1 PDSS2 DEAF1 CAMK2A RNF13 TRIP4 STAG2 KIRREL3 BRSK2 TSEN2 PSAT1 SON EEF1A2 WDR26 ADNP TOR1A KLHL40 RALGAPA1 TSEN34 SPG11 AFF4 SET TSEN54 TRIO PIGV PPP2R1A PIGO C2CD3 CIC PIGL FGFR1 BRAF EPB41L1 SIGMAR1 C12orf65 CDH15 CUX1 CHAMP1 TBCK DALRD3 DCHS1 KIF1A PIGU DOCK8 SYNGAP1 BLM UBTF TRAPPC12 YY1 TCF4 FAT4 DLK1 RAB11A SPOP MED12L COL7A1 STXBP1 HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY CIITA STAT1 PCSK1 STX3 MYO5B SPINK5 PERCC1 MPI TTC37 RFXANK EPCAM WNT2B RFXAP LRBA ADAM17 IL2RA ALG3 RFX5 SKIV2L FOXP3 NLRC4 DGAT1 HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT HGF ADCY1 IARS2 RIPOR2 IGF1 ATP2B2 CDH23 SETBP1 TIMM8A TK2 SARDH NDE1 COCH ESPN GIPC3 MARVELD2 HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT KCNE1 KCNQ1 SLC12A2 FGF3 CIB2 MYO15A RDX PRPS1 HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY TP63 PTDSS1 FGF10 TET3 SIX5 PAX3 NOP10 PIK3CD TFAP2A SOX6 FREM1 FREM2 FGFR2 KAT6A EYA1 NDUFB11 CREBBP PAX1 EP300 CD151 SMCHD1 SIX1 TAF1 FGFR3 TCOF1 COL3A1 GRIP1 SMC3 COL11A2 IGSF3 KNSTRN NHP2 YY1 FRAS1 HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY FGF10 FGFR3 BTNL2 SOX10 SLC25A24 FGFR2 HLA-DRB1 HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER FOXC1 COL8A2 VSX1 COL18A1 PAX6 CYP1B1 PITX2 OVOL2 GRHL2 FOXE3 ZEB1 HP_ABNORMALITY_OF_CORNEAL_THICKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_THICKNESS RHO CRB1 ARL6 RDH12 IQCB1 SLC7A14 AIPL1 SPATA7 GUCY2D CHST6 LRAT SNRNP200 KIAA1549 TOPORS CEP290 ZNF469 EYS NEK2 PRPF3 CERKL PRDM5 PRCD SEMA4A HRAS RP2 IFT88 RPGR PRPF4 IDH3A SLC2A10 CNGB1 PDE6B USP45 LCA5 PCYT1A NR2F1 SAG RGR PIEZO2 TULP1 IMPDH1 IFT140 DHX38 BBS2 NRL IFT172 KCNJ13 AP1B1 SCAPER RPGRIP1 CRX SLC4A11 DCN TTC8 RLBP1 C8orf37 CNGA1 PDE6A NR2E3 RPE65 KIZ RP1L1 ANTXR1 CHRDL1 ARL2BP RP1 KLHL7 PRPH2 REEP6 AHI1 ARL3 DDR2 POMGNT1 CLRN1 GUCA1B NMNAT1 IDH3B USH2A AGBL5 TUB BEST1 ARHGEF18 PRPF31 FAM161A RD3 COL3A1 CDHR1 GDF6 PRPF6 MERTK PROM1 PLOD1 FOXE3 LMX1B KERA ZNF513 ROM1 ZNF408 HGSNAT PCARE MIR184 PRPF8 IMPG2 RP9 RBP3 CA4 GNB5 FSCN2 OFD1 AHR ABCA4 VSX1 MAK DHDDS PDE6G HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY ZEB1 COL8A2 VSX1 FOXC1 CYP1B1 PAX6 PITX2 SLC4A11 OVOL2 GRHL2 FOXE3 HP_ABNORMALITY_OF_CORNEAL_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_STROMA LCAT VSX2 MCOLN1 CTNS ERCC3 PAX6 CHST6 PEX5 APOB GNPTAB FOXE3 XPC DDB2 APOA2 GLB1 WDR73 RIPK4 WT1 JAG1 GALNS SLC29A3 ERCC5 NLRP3 VSX1 PSMB8 KRAS CYP1B1 OCLN TGFBI SC5D SLC4A11 SLC4A4 RAB23 PEX2 GNPTG B4GAT1 ESCO2 PITX3 LDLR STS GJB2 PCSK9 PEX1 OVOL2 ALDH18A1 CHRDL1 ABCA1 ASAH1 IDUA FOXC1 ERCC6 KRT12 PITX2 LIFR ZEB1 ERCC2 AIRE SREBF1 TRAPPC2 COL8A2 COL18A1 TRPV3 UBIAD1 NAGA EPHX2 MMP2 XPA PPP1R17 ERCC8 GNAS CTSA NOD2 KERA MBTPS2 APOE GRHL2 GHR NTRK1 SMARCAL1 ERCC4 NDP ARSB GBA POMGNT1 HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA GNAS NOD2 FOXC1 COL18A1 FOXE3 PAX6 CYP1B1 PITX2 JAG1 OVOL2 SLC4A4 HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY NOD2 KIFBP LBR COL4A4 FGFR2 ERCC3 PAX6 RNF113A ERCC6 CHST6 TP63 DDB2 CRLF1 SPINT2 SREBF1 PNPLA1 ABCA12 WIPF1 PRDM5 BTNL2 WAS XPC TGFBI SCN9A GJB2 ELP1 SLC35C1 CCR1 RNF125 CTNS ERCC2 STAT4 FOXC2 B2M ERCC5 IL6ST NLRP3 MPLKIP GTF2E2 IL23R ALOXE3 IL10 FAS GSN TAT IKBKG TWIST2 ZMPSTE24 POLH CLTCL1 TARS1 MPV17 COL4A6 GTF2H5 FGF10 ERAP1 TLR4 PRDM12 ZEB1 IARS2 FERMT1 NIPAL4 COL7A1 AEBP1 ERCC8 GATA1 TGM1 COL4A3 COL4A5 COL17A1 UBAC2 SLC39A4 XPA FOXE3 GJB6 HLA-B MEFV NLRP1 KLRC4 MMP1 UROS MBTPS2 AIRE HLA-DRB1 IL12A NGLY1 CERS3 ZNF469 KRT3 ALDH3A2 NTRK1 HLCS ERCC4 FGFR3 IL12A-AS1 MTTP C4A ALOX12B PLEC PLCG2 MAB21L1 IKZF1 LMNA HP_CORNEAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_NEOVASCULARIZATION COL4A1 SREBF1 COMT SEC24C NLRP1 CYP1B1 GJB2 TBX1 UFD1 HIRA DDR2 JMJD1C GP1BB ERCC2 FOXE3 NGLY1 ARVCF RREB1 GJB6 HP_MYDRIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYDRIASIS BAP1 GNAQ ACTA2 CYSLTR2 SF3B1 LOXL1 GNA11 PEX10 HP_BULL_S_EYE_MACULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULL_S_EYE_MACULOPATHY RAX2 ABCA4 PROM1 RIMS1 MFSD8 TMCO1 VPS13B HP_CYSTOID_MACULAR_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTOID_MACULAR_EDEMA PRPH2 ARL3 KIAA1549 POMGNT1 MFRP HLA-A RHO NOD2 RP1L1 ARHGEF18 PDE6G IDH3A RDH5 RLBP1 PRPF8 REEP6 DHDDS HP_CHOROIDAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDAL_NEOVASCULARIZATION CFI FBLN5 HLA-A ENPP1 FBLN1 CFHR1 PRPH2 MAPKAPK3 HMCN1 XYLT1 FBN2 XYLT2 CFHR3 ABCC6 APOE AGXT HP_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRUSEN CFI FBLN5 MFRP GUCA1A IMPG1 CFH GUCY2D CFHR1 PRPH2 HMCN1 XYLT1 XYLT2 CFHR3 APOE CTNNA1 ESPN IFT172 ALMS1 TMEM98 ABCC6 HP_HYPERPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_FUNDUS APC POU3F4 EFEMP1 CAPN5 MUTYH HP_ACHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHROMATOPSIA CNGB3 CNGA3 GNAT2 ATF6 NBAS HP_ANOMALOUS_TRICHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMALOUS_TRICHROMACY OPN1SW OPA1 OPN1MW NR2E3 OPA3 DNM1L GUCY2D OPN1LW HP_ABNORMALITY_OF_LENS_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LENS_SHAPE PRPH2 RHO OCRL COL4A5 COL4A4 ERCC6 RDH5 RLBP1 ERCC8 COL4A6 COL4A3 LAMB2 HP_VITRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITRITIS HLA-A HCCS COX7B NDUFB11 RB1 HP_ABNORMAL_ATRIAL_ARRANGEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIAL_ARRANGEMENT NME8 SPAG1 PKD1L1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 DNAH5 TTC25 RSPH4A DNAAF5 CCDC151 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN CCDC114 DNAI2 LRRC56 GDF1 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 LRRC6 DRC1 FOXJ1 CFC1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS NME8 CLIP2 SALL4 GJA5 RPGR NODAL STAG2 CXCR4 RSPH4A TBX1 SF3B4 DGCR6 CCDC151 GATA4 BRCA1 BCOR ZFPM2 TTC37 SIX3 PIGN CCDC22 NOTCH2 UFD1 MED13L PIGL ARID1B EOGT FOXF1 SLX4 HIBCH CCDC114 NOTCH1 RAI1 FANCB GJA8 GDF1 SEC24C JAG1 DISP1 RBPJ ZNF462 PTPN22 TBC1D24 MEGF8 CCDC103 INTU GTF2IRD1 ZMYND10 GTF2I FANCM CCNO ESS2 DNAAF6 RREB1 RNU4ATAC ZMPSTE24 WT1 CFAP298 RFC2 PALB2 LRRC6 FN1 HIRA RRAS2 SEMA3E ZIC3 STK36 NEK10 CCDC65 DNAAF4 PKD1L1 TGIF1 TBL2 DGCR8 RSPH1 GAS2L2 GAS8 GPC3 COX7B FANCI GPC4 GLI2 ALX1 WASHC5 XRCC2 GP1BB SPECC1L GAS1 FGF8 DNAL1 DNAH11 CHD7 ARHGAP31 GATA5 DNAH9 RAD51C RPL5 SKI SKIV2L MCTP2 BMP2 DNAI2 VAC14 LIMK1 TRAF7 EHMT1 MMP21 NR2F2 DNAAF1 SALL1 FANCE DNAH1 GJA1 PHGDH TBX2 UBE2A COL2A1 NKX2-5 PTCH1 NKX2-6 NADSYN1 FOXJ1 CFC1 OFD1 JMJD1C RAD51 CHD4 DNAAF3 CHRM3 SPAG1 DLL4 ZIC2 SHH CFAP300 FGFR1 DNAH5 NID1 DNAAF5 MYRF RBM8A BRAF DDX59 GATA6 TMEM94 NXN FANCD2 COMT CCDC40 MKKS HYDIN MMP2 CDK8 CACNA1C BRIP1 FOXC2 LRRC56 RBM10 FIG4 ZEB2 CFAP221 DLL1 PQBP1 DDX11 SPEF2 RAB23 KCNAB2 PRDM16 DRC1 CRELD1 ERCC4 RSPH9 FLT4 CFAP53 DGCR2 FANCF DNAAF2 PEX19 SUFU MMP14 TMEM260 TTC12 RPL11 TTC25 LMNA ARVCF BRCA2 DACT1 ARMC4 SLC35A2 ROR2 DOCK6 FANCC CDON TDGF1 ALX3 TAB2 BAZ1B ELN GABRD PUF60 FANCL FOXH1 STRA6 UBE2T RFWD3 DNAJB13 MCIDAS CCNQ FANCG FANCA MAD2L2 FKTN CCDC39 RSPH3 DNAI1 PAH CITED2 RERE HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION GJA1 NKX2-5 MCTP2 MMP21 NOTCH1 CCNQ ZIC3 HP_COMMON_ATRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMON_ATRIUM GDF1 PRKACB GATA6 MMP21 CRELD1 ZIC3 GATA4 EVC2 NR2F2 EVC HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH GDF1 DGCR8 TMEM260 TBX1 DNAH1 MMP21 CREBBP ACVR2B EP300 WDR26 STRA6 FLT4 DGCR6 ESS2 DGCR2 PIK3R2 CRELD1 HP_DOUBLE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOUBLE_AORTIC_ARCH FLT4 DGCR8 DGCR6 ESS2 DGCR2 TBX1 HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES CLIP2 SALL4 PUF60 GJA5 NODAL TRIP4 STAG2 CALM3 CXCR4 RSPH4A FBN2 TBX1 ARFGEF2 SF3B4 KCNH1 SHANK3 PRKG1 BRCA1 LMNA BCOR ZFPM2 TTC37 IGBP1 SIX3 CCDC22 NOTCH2 MED13L EOGT HIBCH CCDC114 NOTCH1 TGFBR1 AGGF1 GJA8 NPHP3 GDF1 SEC24C NSD1 DISP1 RBPJ PTPN22 TBC1D24 CCDC103 GTF2I YY1AP1 DHCR7 SMAD3 FANCM CCNO HYMAI THOC6 RNU4ATAC KCNJ8 WT1 ARX WDR37 LRRC6 FN1 RPS26 EP300 SEMA3E KYNU NEK10 FOXF1 CCDC65 BPTF FBN1 MYLK B3GLCT TBL2 DGCR8 RSPH1 GAS2L2 GAS8 GPC3 COX7B SNX14 GATA4 ALX1 XRCC2 GP1BB SPECC1L MYH11 GAS1 LMX1B DNAL1 ARHGAP31 GATA5 DNAH9 MAP3K7 KCNE5 CREBBP MASP1 DYNC2LI1 BRAF SKIV2L ACTB DHCR24 DNAI2 NEK8 VAC14 C2CD3 LIMK1 WASHC5 TRAF7 MFAP5 TP63 NR2F2 DNAAF1 MYH7 SALL1 DTNA DNAH1 GJA1 KANSL1 UBE2A AFF4 INTU FTO COL18A1 TGFB2 PTCH1 NFIX LARS2 NADSYN1 OFD1 RAD51 DVL3 DNAAF3 MEGF8 FLNA SHH MAT2A NID1 TKT POLR1C DNAAF5 MAP2K1 NCAPG2 TBX5 RBM8A SIX6 DNMT3A TMEM94 FANCD2 COMT RBP4 MKKS CDK8 ALG8 ANKS6 EHMT1 CHRM3 FOXC2 MRPS16 CRKL RBM10 PSMD12 PIGL ZEB2 HPGD DLL1 PQBP1 DDX11 CTCF SPEF2 RAB23 RIT1 MAPK1 KCNAB2 CRELD1 ACTA2 ERCC4 STXBP1 TFAP2B RSPH9 FLT4 CFAP53 DGCR2 MYCN NONO DNAAF2 SIK3 SLC25A24 AMMECR1 TMEM260 RPL11 KAT6A TTC25 CDC42 ALG12 ARMC4 SLC35A2 NOTCH3 FANCC NKX2-5 CDON TRIP11 SOX2 KAT6B ELN LOX GABRD STRA6 LRRC56 UBE2T GATA6 WAC WDR35 MAD2L2 PIGT PTEN CCDC39 DNAI1 TSFM CSGALNACT1 PACS1 RERE FANCB TMCO1 NME8 KRAS RPGR GLI3 TGFBR2 DGCR6 MKS1 CCDC151 ACSL4 CEP120 CD96 COG6 USP9X PIGN UFD1 ARID1B SLX4 AMER1 VPS33A KAT8 RAI1 SMAD4 PLAGL1 JAG1 ZNF462 ARF1 BMPR1A GTF2IRD1 PLCB3 ZMYND10 ESS2 DNAAF6 RREB1 ZMPSTE24 USP18 ESCO2 CFAP298 TRRAP RFC2 PALB2 TMTC3 ANK1 HIRA RRAS2 POLR1A ZNF148 ZIC3 STK36 PEX1 DNAAF4 DYRK1A BCR PKD1L1 TGIF1 SNRPN FANCI GPC4 GLI2 ASCC1 ZMIZ1 FGF8 DNAH11 CHD7 SON EXT2 PTPN11 RAD51C SSR4 RPL5 SKI MCTP2 BMP2 MMP21 SETD2 FANCE PRDM6 PHGDH TBX2 KCNN3 COL2A1 MAF NKX2-6 CTU2 FOXJ1 MAP1B CFC1 JMJD1C CHD4 SPAG1 DLL4 ZIC2 RAC1 CFAP300 FGFR1 DNAH5 RSPRY1 MYOCD MYRF ABCC9 DDX59 NXN CCDC40 SMC3 HYDIN MMP2 FOXC1 CACNA1C PCNT BRIP1 EED SLC29A3 SAMD9 FIG4 APC2 CFAP221 ARL6IP6 FOXE3 PRDM16 DRC1 WDPCP TGFB3 IGF2 PPP1CB NEDD4L ADAT3 FANCF PEX19 SUFU MMP14 PCGF2 TTC12 ERMARD SNRPB ARVCF BRCA2 DACT1 ROR2 DOCK6 G6PC3 TDGF1 ALX3 TALDO1 TAB2 TBX4 TCOF1 BAZ1B COQ4 FANCL FOXH1 ADAMTS10 FGFR3 RFWD3 DNAJB13 MCIDAS FANCG POLR1D FANCA PORCN FKTN FKBP14 RSPH3 PAH UMPS CITED2 DPM1 ECE1 HP_INTERRUPTED_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERRUPTED_AORTIC_ARCH DGCR8 DIS3L2 TMEM260 TBX1 MMP21 MYCN FOXF1 SEMA3E FGFR1 SMG9 KRAS DGCR6 CHD7 ESS2 DGCR2 GATA6 HP_ABNORMALITY_OF_ABDOMINAL_SITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ABDOMINAL_SITUS ACTG2 PKD1L1 LETM1 GDF1 NSD2 CFAP53 NODAL ZIC3 FOXJ1 NELFA CFC1 HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT GATA6 SVBP DNAJC19 NUP188 MYCN THOC6 HP_TRICUSPID_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_ATRESIA COMT SEC24C TMEM260 TBX1 UFD1 MYCN HIRA JMJD1C PLD1 GP1BB ARVCF RREB1 HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY JUP TMEM43 DSG2 PKP2 DSP DSC2 RYR2 TGFB3 HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT CITED2 RAD21 GATA6 NUP188 PUF60 BMP2 ATRX THOC6 CALM3 SEC31A HP_CEREBELLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HEMORRHAGE ACAD9 PCCB IVD PCCA APP MMUT HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN SDHD SCN1B TRDN MAX SCN5A PEX5 DNMT3A LMNA MDH2 SDHB NOS1AP CACNA1C KCND3 ABCC9 SCN3B CAV3 TPM3 KCNQ1 GPD1L PKP2 RET SNTA1 SCN2B EPAS1 GNB5 VHL TPM2 SEMA3A SDHC CACNB2 DLST KCNE1 TMEM127 SDHA CALM3 HCN4 SCN10A SLC25A11 KCNE2 SDHAF2 AKAP9 FH NF1 TNNI3K SCN4B KCNH2 SLMAP BVES ANK2 MYPN KCNE3 SCNN1A RANGRF KCNJ8 SGO1 TRPM4 CALM2 PRKAG2 CALM1 KCNE5 KCNJ5 BANF1 KIF1B CACNA2D1 HP_SINUS_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_TACHYCARDIA SDHD TMEM127 SDHA MAX PEX5 SLC25A11 DNMT3A SDHAF2 FH MDH2 SDHB NF1 VHL TPM3 RET MYPN EPAS1 TPM2 SDHC BANF1 DLST KIF1B HP_SICK_SINUS_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SICK_SINUS_SYNDROME SCN1B HCN4 SCN10A AKAP9 KCND3 ABCC9 SCN3B SCN5A GPD1L SLMAP PKP2 GNB5 SCN2B KCNE3 SCNN1A RANGRF KCNJ8 SGO1 TRPM4 SEMA3A CACNA1C KCNE5 CACNB2 CACNA2D1 HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK TLL1 SCN1B GPD1L HCN4 GJA1 SCN10A NKX2-5 CITED2 AKAP9 KCND3 TBX20 ABCC9 GJA5 SCN3B TBX5 SLMAP PKP2 SCN2B GATA6 KCNE3 SCNN1A RANGRF GATA4 KCNJ8 ACTC1 TRPM4 SEMA3A SCN5A MYH6 CACNA1C KCNE5 DMPK CACNB2 CACNA2D1 HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK CACNA1S GABRA3 KCNJ18 CACNA1D CALM3 HP_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUNDLE_BRANCH_BLOCK TRPM4 SCN1B PLEC SCN5A POMT2 NKX2-5 KCND3 TBX20 ABCC9 SCN3B GPD1L PKP2 SCN2B MYBPC3 ACTC1 GNAI2 SEMA3A CTNNA3 ATP6V1E1 MYH6 GPC4 CITED2 CACNB2 TLL1 GYG1 TNNC1 HCN4 MYH7 SCN10A ATP6V1A AKAP9 GLA PTPN11 TNNI3K SLMAP DYSF RAF1 JUP CDH2 GATA6 KCNE3 SCNN1A RANGRF PIGU GATA4 RNASEH1 KCNJ8 MT-CYB PRKAG2 CACNA1C KCNE5 MYOZ2 BRAF PPP1CB BANF1 GPC3 CACNA2D1 HP_LEFT_ANTERIOR_FASCICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK TRPM4 TNNC1 TNNI3K MYH7 SCN5A HP_RIGHT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_BUNDLE_BRANCH_BLOCK TRPM4 SCN1B PLEC SCN5A POMT2 KCND3 ABCC9 SCN3B GPD1L PKP2 SCN2B MYBPC3 GNAI2 SEMA3A ATP6V1E1 CITED2 CACNB2 TLL1 GYG1 TNNC1 HCN4 MYH7 SCN10A ATP6V1A AKAP9 TNNI3K SLMAP DYSF JUP KCNE3 SCNN1A RANGRF PIGU RNASEH1 KCNJ8 MT-CYB CACNA1C KCNE5 PPP1CB BANF1 CACNA2D1 HP_LEFT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_BUNDLE_BRANCH_BLOCK TRPM4 PRKAG2 MYOZ2 CDH2 TNNC1 TNNI3K MYBPC3 MYH7 SCN5A HP_ABNORMALITY_OF_THE_PULMONARY_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS NME8 SPAG1 RSPH1 TMEM260 GAS2L2 RPGR HES7 TTC12 GAS8 CFAP300 BMPR2 DNAH5 TTC25 RSPH4A DNAAF5 EIF2AK4 CDC42 MYRF CCDC151 TBX5 ARMC4 DNAL1 DNAH11 CCDC40 DNAH9 HYDIN SMC1A FOXF1 MESP2 CITED2 RSPO2 CCDC114 DHCR24 DNAI2 LRRC56 GDF1 RPS15A MMP21 GATA4 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS NR2F2 SPEF2 WT1 CFAP298 GATA6 LRRC6 DRC1 LFNG CRELD1 RIPPLY2 FOXJ1 B3GLCT OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CRTAP CCDC65 DNAAF4 DNAAF2 DNAAF3 DLL3 HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART NME8 GATA6 SPAG1 PKD1L1 DVL3 MMP14 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 STAG2 DNAH5 TTC25 RSPH4A DNAAF5 NKX2-5 CCDC151 ARMC4 BCOR DNAL1 DNAH11 CHD7 TMEM94 CCDC40 DNAH9 HYDIN MMP2 TBX1 CCDC114 MCTP2 RAI1 DNAI2 WASHC5 TRAF7 LRRC56 PTPN22 TBC1D24 GATA4 DNAAF1 CCDC103 DNAH1 ZMYND10 CFAP221 TBX2 CCNO UBE2A DNAJB13 DNAAF6 MCIDAS NR2F2 SPEF2 CFAP298 GDF1 LRRC6 NKX2-6 DRC1 NADSYN1 CRELD1 NOTCH1 ZIC3 FOXJ1 GATA5 CFC1 OFD1 CCDC39 RSPH3 DNAI1 STK36 PAH SEMA3E RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 PEX19 HP_ABNORMALITY_OF_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_JOINT_MOBILITY CLIP2 LRP5 COMP NODAL UNC80 SOX4 HES7 YY1 EVC AP4M1 SF3B4 SUZ12 SHANK3 SLC9A6 ABCC9 PMS2 IRF5 GDF5 SCN4A ENPP1 FMR1 PHACTR1 KANSL1 TGFBR1 POGZ TRPS1 FGFR2 MAGEL2 B3GALT6 TBC1D20 PSTPIP1 GLI3 SLC29A3 ITGB4 DYM NSD2 CBS NSDHL PIK3R1 ASXL1 HYMAI ANTXR2 TNNI2 NSUN2 ACTL6A RNU4ATAC NEB FIBP FUCA1 GARS1 STAT3 GLI1 PIGP MSTO1 LAMB3 HOXD13 MLH3 BRF1 EPG5 DHODH TTN DEAF1 PIK3CA ZMPSTE24 GFM2 GLB1 SOS1 GP1BB CHAT ADNP LMX1B COL6A3 PYCR2 ERCC5 SDHA CARS1 FITM2 POMT1 SATB2 GUSB ERCC8 PTCH1 DLL1 RNF13 MYH3 P3H1 HGD GRIA3 CCDC8 PTPN11 NFASC CKAP2L COL18A1 TANC2 C12orf65 NADSYN1 TMEM70 CFL2 KRT1 HPDL ERF TRPV4 COL6A1 GFPT1 DVL3 SMC3 SEMA5A DPH1 CHRNE VAMP1 PIEZO2 CISD2 SELENON MAF HSPG2 RBM8A SIN3A SIX6 CHMP1A KMT2E TUBB3 MKKS WNT7A RFC1 TONSL FDFT1 ALX3 POLD1 FHL1 CRKL MYH7 RTL1 TDGF1 PIGS TNNT3 COL13A1 UBE3A LMBR1 AP4S1 RPL10 BICD2 TWIST2 RAB23 PEX2 KCNH1 IGHMBP2 DONSON DYNC2LI1 ZBTB20 AP4B1 SCN1B CD247 EXT2 SLC6A5 GDF6 DCX EFNB1 LTBP4 NONO IL1RAPL1 TRAK1 GTF2H5 MYBPC1 MYL2 ACTA1 COL7A1 TRIP11 HDAC8 NSD1 TAF1 KCNJ2 LAMB2 GJA1 CHN1 FLNB FIG4 KMT2D SHOX ATP6V1E1 PSMD12 ARID1A B4GALT7 GLI2 PTPN22 ZEB2 LIFR NOD2 CACNA1A FLNA RIT1 TWIST1 FGFR1 MYPN DDRGK1 OCRL ANTXR1 HNRNPK MACROH2A1 DCHS1 DPAGT1 DDX3X ZC4H2 C1S MECP2 ALOX12B CCN6 FGF9 WDFY3 PPP1R12A FBXW11 INPPL1 RERE MYH8 TMCO1 MFN2 MRE11 SCN9A VPS33B TET3 COLEC10 HPGD SERPINF1 FGFR3 DOK7 VPS37A COL2A1 HOXA13 CAV1 ZNF469 SUMF1 RRAS2 MAFB MKS1 UFD1 PYCR1 XYLT1 TNNT1 POMK TPM3 TRMT1 SMC1A PLAGL1 KDM3B ARX TNXB FAN1 MED13 GTF2IRD1 FBN1 ALG2 AP4E1 BMP1 TPRKB ESCO2 SEC24D DARS2 TMTC3 HEPHL1 PRG4 SLC25A19 RBM28 TGFB1 SLC25A46 AHDC1 MECOM FBN2 OPA1 DST EZH2 GPC3 ANKRD55 DYRK1A ERCC2 BCR ADAR KIF1A ATR PMM2 MYOT LMNA COL6A2 RMRP GCH1 ZMIZ1 ERLIN2 KDM6B LRP4 FOXP1 SOX2 NOG PTRH2 ERGIC1 EXOC6B RFT1 PTPN2 COL1A1 SHOC2 SETD2 CDK13 CYP26B1 DHX30 NEPRO CHST3 ACVR1 KLHL9 KDM5C KCNK9 TPM2 TBX3 MAP1B TRAIP RYR1 JMJD1C LPIN2 CBL NPR2 PTCH2 TLK2 BMPR1B ALDH18A1 PEX6 COL12A1 ADAMTS3 GMPPB SPART SLC25A1 CRLF1 XYLT2 SDHD UBA1 F8 FOXH1 GPHN SIX3 NEK9 FGF8 PLEKHG5 TBCD COL11A2 RPL26 SPG11 SHH KCNJ11 PLAA ATRX ACTG1 PSMB4 PLP1 NIPBL HERC1 SON CANT1 SGCG POR CCBE1 KBTBD13 CDON ABCC6 HACD1 MBTPS2 VMA21 LONP1 TFAP2A RAI1 ORC6 COLQ MTX2 IHH COL9A3 NKX3-2 KRT83 ASPA GNPAT ERMARD MED13L RLIM KDM1A COL11A1 RNASEH2A RAD51 IBA57 HDAC4 TOR1A CPT2 AFF4 STAC3 FBLN5 CDC45 EP300 BRAF SLC18A3 PHF6 BHLHA9 SALL1 PAX2 EVC2 ALDH3A2 ORC1 TGIF1 TFAP2B COL17A1 FKRP PIGU RIN2 KLHL7 MT-TE IDS CSNK2A1 P4HB TBX4 GATAD2B ADCY6 PSAT1 ATP7A TBL1XR1 ABL1 MEOX1 IFT43 SALL4 STAT4 MMP13 SMPD4 COL5A2 ELOVL4 STRADA SCYL2 KIAA1109 AP1S2 TRMT10A TENT5A FCSK KMT2A CHST14 HNRNPH2 GLRB MLXIPL ANKLE2 TNPO3 PLOD2 CPLX1 DCC MEG3 ATP6V1A CLCF1 MPDU1 SETBP1 PTEN HFE COL1A2 MATN3 BCOR LSS NACC1 CRPPA TNFRSF11B TELO2 SRCAP AUTS2 SNX14 PCDH19 DDR2 ALX1 CEP55 CDC6 PPP1R15B UFC1 CREBBP ATP6V1B2 UPF3B COL3A1 HINT1 DHCR24 LGI4 SLC26A2 WDR4 MTM1 LTBP2 SLC39A14 SIGMAR1 CCDC47 AGRN ADAMTSL2 ERCC1 NARS1 KIF5C LOX RNASEH2C COL5A1 COQ7 FKBP10 PROK2 SNAP25 IFIH1 POMT2 CHRNG RECQL4 SPRY4 TBX1 TBX6 PCNT DPF2 TBX5 PRDM5 FAT4 VIPAS39 LETM1 POLR3A SETD1A ALG8 GPC4 LARGE1 SLC39A8 PNPT1 GLE1 KISS1R MTMR14 NLRP3 PEX7 PLEC TREM2 HOXA11 PIK3R2 CTCF BCL11A IRF6 RIPPLY2 GNRHR GNPTAB GDF3 FGD1 IL1RN CDC42 OSGEP MAP3K7 KLHL40 PERP TCTN3 DPM2 GBE1 MED12 GORAB IL2RA PIGG PUF60 LAMC2 NT5C2 CCN2 GABRA1 H1-4 ANOS1 IDUA C1R ERCC6 SLC10A7 SDHB CNTN1 EXOSC9 RAB18 TMEM165 PADI4 CTNND2 HNRNPDL TMEM43 REV3L ATP6V0A2 KDM6A RASA2 KCNJ6 EXTL3 DNAL4 ZNF341 ATRIP FLII HCN1 ARID1B ABCC8 VPS33A WDR35 TRPV3 EXT1 NALCN ERLIN1 NUP133 NSMF NOTCH3 MEGF8 PNKD LIAS MEGF10 FLRT1 TAB2 RREB1 SEC23A IL2RB DISP1 CCDC22 HIRA GJB2 PHGDH IDH1 SLCO2A1 TRIP4 COL9A1 DSE PPP2R1A ATN1 ASCC1 RAF1 GBA PTHLH USP9X TGDS LMOD3 SLC2A10 SUFU SLC5A7 NUP88 EMD GAD1 THOC2 ANKRD11 PTH1R CHSY1 SET MYOD1 SYNE2 CHD7 GRID2 IQSEC2 AIMP2 PLOD3 MASP1 NLRP1 MSH2 DLK1 TAPT1 RAC1 IFITM5 TBX15 ERCC3 SCARF2 PITX1 PIGT TGFBR2 CNTNAP1 TRIM2 NXN ANKH PYROXD1 GJB1 EFEMP2 GALNS CDK5 ALS2 UROS BGN PAX3 VPS11 SCN1A ALG14 DEGS1 HLA-DRB1 KY PPP1CB BANF1 ZIC2 UCHL1 RAB3GAP1 HS6ST1 HUWE1 SLC35A3 CTBP1 PLA2G6 PMS1 ERCC4 TRAPPC2 LAGE3 ELN INS PLOD1 VCP BCORL1 ITGA6 DLG4 STXBP1 FLVCR2 RPS20 PTF1A HGSNAT SYT1 PDGFRB IL10 SLC39A13 POP1 LZTR1 FLNC RTTN STING1 DYSF DMD PORCN SYNE1 IDH2 NUP107 CIITA ARSB HNF4A MESP2 GAS1 UBR1 ACER3 ADGRG6 PEX5 AGA IFT122 KRAS ATP7B CEP152 DPYD NEDD4L GABRG2 LIG4 SMARCB1 KIF22 FAM20C FKTN MYL1 RIC1 CENPJ NDE1 THOC6 GNPTG BRAT1 MSH6 NEFL ALG3 SYT2 SPEG EPCAM ROR2 TBL2 TBR1 CHAMP1 ITGA7 CHRNA1 DNM2 WDR11 CD244 GNE MUSK ACAN RAPSN GPC6 NF1 TSEN54 RAB3GAP2 LIMK1 SHPK SMARCAD1 MSL3 SGCA GATA1 PLK4 GABRD TGM1 SMS PAX7 WDR73 TCF12 CENPE SIL1 PCYT1A WRN MAMLD1 GDAP1 NCAPG2 GLUL PIGA COMT HRAS GPKOW FUT8 ACADS MED25 CTDP1 TYROBP FBXL3 WDR19 PIGL WIPI2 LAMA2 PDHA1 SMARCD1 PQBP1 SAMHD1 ACTB EXOSC3 L1CAM SLC16A2 FLVCR1 BIN1 SRD5A3 TACR3 AKT1 DLL3 SIK3 AMMECR1 KLC2 EXOSC8 AEBP1 KDELR2 BMPER OBSL1 ACADM CLIC2 NDUFAF4 CAPN3 RRAS BMP4 KAT6B STAG1 AIMP1 SPRTN SRPX2 ITGB6 CUL7 PCNA SMARCC2 AIFM1 EMG1 BMPR1A MORC2 SEC31A RNF113A PTDSS1 KIAA0319L LTBP3 CAVIN1 APC ABCD1 MYT1L VPS53 MAPK1 AMER1 NANS ACTL6B FARSA FUS PGM3 ITCH PIP5K1C NUP188 DNAJC21 PROKR2 ATAD1 NAA10 IKBKG RFC2 WDR45B TMEM107 KIF5A RPS6KA3 ORC4 DAG1 DDX6 STX1B ALG9 SMARCE1 ADAMTSL4 MCTP2 FGF16 SMAD3 STIM1 PSMB9 CCR6 SMAD4 SCN2A KCNN3 COASY NAGLU MVK SLC40A1 PHIP RSPRY1 BAG3 ABCA12 OTX2 CUL4B NFIX ALOXE3 P4HTM SOX11 SVBP TREX1 GAN PRRT2 PRDM16 GRIA4 MLH1 TARS1 ADAT3 PPP2R5D PLXND1 STAG2 C19orf12 ARVCF IFT52 SERPINH1 PPP2R3C BAZ1B MYO9A WFS1 ERBB3 KLHL41 GNRH1 LFNG OCA2 DCPS SEMA4A MYO18B TRAPPC4 KISS1 DPM1 RNASEH2B HSPD1 ABHD12 ARFGEF2 WNT5A ARID2 FARSB FANCI SKI LOXL3 ZIC1 CHRND ZNHIT3 MAP3K20 RBBP8 KIF14 PDX1 SEC24C ADAMTS2 PSMB8 FBLN1 GTPBP2 GTF2I MMP9 HBA2 NTN1 RIPK4 TBX22 CREB3L1 PRUNE1 CRYAB SLC1A2 SOS2 B3GLCT LAMA3 OTUD6B DOCK3 MAN1B1 GLRA1 NGLY1 CHRNB1 SDHAF1 PHEX CDH3 HIKESHI SFRP4 C12orf57 TP63 SGSH RET CYP27A1 MPLKIP GCK NTNG1 TCF20 CDT1 IARS1 NOTCH2 MRAS FZD2 FUZ GNAS SLC6A8 USP7 PI4KA DNMT3A COG5 CACNA1E EED PDE4D SMG9 OFD1 CD96 IL6ST PKDCC B3GAT3 LEMD3 VRK1 COLEC11 TP53RK KCNAB2 TAC3 HBA1 FGF17 DNA2 AHSG PIGY PPT1 ADGRV1 SLC35A2 WDR26 ADGRG1 OPA3 ZDHHC9 TGFB3 C12orf4 SLC12A6 GNAI3 MMP1 PEX1 EXOC7 COG1 TGFB2 NFKBIL1 RAD21 ORAI1 CSGALNACT1 PIK3C2A DUSP6 SH3PXD2B NRAS MYMK NIPA1 KIF15 SOBP MRPS34 GTF2E2 ARF1 VPS13B GSC SEPSECS NKAP ASAH1 MAN2B1 SPTBN4 ANO5 WNT1 A2ML1 ADAMTS10 DDHD2 SOX5 PIGN SETD5 ZNF335 DKK1 MYH2 SMARCA4 SOX10 MMP2 SMOC1 ANAPC1 DVL1 ALG1 CTNNB1 DNAJB6 SLC22A4 ECEL1 GMNN VANGL1 ASPN ZBTB42 PPP3CA EXOC8 PLCB4 ALG13 FKBP14 BRPF1 APC2 SLC1A4 SLC6A9 ACTG2 FERMT1 WASF1 GNS IARS2 BPTF SNRPB FGFRL1 HNF1B DHX16 TOR1AIP1 COL9A2 SVIL ECE1 HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION BAP1 TRAF7 ATP6AP2 ABCD1 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 PDGFB SMO HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY SDHD VANGL2 CYP11A1 APC GLI3 CDKN1A MTHFR PRKAR1A PDE8B HESX1 SDHB MEN1 CDKN2A MKS1 RET LMNA LHX4 CDKN1B NR0B1 CYP17A1 CDKN2C WNT3 EPAS1 CCDC22 GNAS VHL POR TBC1D7 POMC CYP11B1 CILK1 PDE11A PRKACA TMEM127 NR3C1 USP8 ENPP1 IGF2 ROBO1 TBX19 CDKN2B TBC1D24 CDKN1C HYLS1 SDHAF2 FH NSDHL PTEN KCNJ5 CYP11B2 ZMPSTE24 LIPA TP53 POLE CYP21A2 PEX1 HSD3B2 WDR11 ARMC5 GPR161 MAX KCNE3 DNMT3A MDH2 WNT4 WASHC5 ABCC6 AIRE CDH23 CACNA1D SDHC CHEK2 IDH2 CDON DLST BMP4 IDH1 TNXB SDHA CACNA1S SLC25A11 KCNQ1 KCNQ1OT1 SIX3 NF1 GK PROKR2 MDM2 SCN4A STAR KIF1B HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY PEX11B CYP11A1 GLI3 CDKN1A NR5A1 PRKAR1A SCNN1A SMARCE1 KCNJ1 HSD11B2 BCOR CDKN1B HBB CYP11B2 ABCD1 CDH23 PEX6 KANSL1 CYP11B1 SGPL1 MAGEL2 PRKACA PEX5 GNAS PEX2 OCRL SCNN1G CTNNB1 SNRPN MRAP TBX19 ABCC8 KCNJ5 CLCNKB NDN TBCK RBM28 TXNRD2 MRPS25 PEX13 BAP1 MRPS7 PDE8B SMARCB1 DMRT3 RET ARMC5 WT1 HSD3B2 NFKB2 PEX26 AIRE PDGFB KCNJ10 PEX10 GATA4 MEN1 BSND HERC2 GATC PWAR1 PEX19 AKT1 PEX1 NNT STEAP3 GK PEX3 SCNN1B NPAP1 CLCNKA INSR MC2R PROP1 LHX4 SNORD116-1 PEX14 SMO SAA1 TRAF7 TERT GMPPA PEX12 TRAPPC11 STAR NR0B1 CYP17A1 CDKN2C KLHL3 MKRN3 SNORD115-1 AAAS POMC PCSK1 NR3C1 SAMD9 CDKN2B ZFPM2 SRY CUL3 POR DHX37 SUFU OCA2 WNK1 PEX16 GATB VAMP7 NR3C2 TCTN3 WNK4 HSD17B4 SOX9 SLC12A1 IARS2 NF2 SLC26A3 PWRN1 AIP CACNA1D LIPA KCNJ11 QRSL1 SLC12A3 BRAF MCM4 HTR1A PDE11A PIK3CA TP53 MAP3K1 WWOX HP_CENTRAL_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_ADRENAL_INSUFFICIENCY MAGEL2 NDN CTNNB1 GLI3 SNRPN CDH23 TBX19 NFKB2 IARS2 RBM28 OCA2 BRAF POMC AIP MEN1 TBCK AAAS PCSK1 HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY CDH23 MEN1 NFKB2 RBM28 TBX19 AIP HP_PRIMARY_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERALDOSTERONISM SCNN1G CLCNKB SCNN1A SCNN1B CYP11B1 KCNJ5 SLC12A3 CYP11B2 HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY CDH23 MEN1 POMC TP53 GLI3 LHX3 TBX19 AIP HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS CYP17A1 CYP11A1 HSD3B2 CYP11B1 POR HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY ZIC2 WDR11 HESX1 LHX4 GPR161 TRAF7 TBX3 PUF60 TERT FGF8 GLI2 WFS1 PROP1 NF2 DLL1 SMARCE1 FOXH1 OTX2 PDGFB ERF PTCH1 AVP ADGRG1 DYRK1A DISP1 POU1F1 NODAL CDON SOX3 CTNNB1 AKT1 FOXA2 ROBO1 TGIF1 SRPX2 VANGL2 BRAF PI4KA SHH BAP1 SUFU SIX3 PROKR2 TDGF1 TP63 MTHFR PIK3CA GAS1 SMARCB1 SMO HP_POSTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PITUITARY_DYSGENESIS WDR11 HESX1 LHX4 GPR161 TBX3 PUF60 FOXA2 ROBO1 GLI2 PROP1 SRPX2 VANGL2 OTX2 PI4KA ERF SOX3 PROKR2 MTHFR ADGRG1 DYRK1A POU1F1 CDON HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA CDKN1B MEN1 CDKN2C GANAB PKD1 CDKN1A CDKN2B AIP PKD2 BICC1 PRKAR1A GPR101 HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY CASR FLCN RET CDKN1B CDKN1A SLC12A3 CDKN2B PRKAR1A MEN1 CDC73 GCM2 CLCNKB CHD7 CDKN2C KL TBX1 TSC1 TSC2 NF1 SEMA3E GATA3 IDH2 IDH1 HP_PARATHYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_DYSGENESIS CHD7 SEMA3E TBX1 GCM2 GATA3 HP_ABNORMAL_THYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_MORPHOLOGY STAT1 SUGCT APC GLI3 CDKN1A FOXE1 TPO IL7R PRKAR1A SLC5A5 NKX2-1 PMS2 NRAS CDKN1B KRAS FOXI1 FAS DUOXA2 DCLRE1C SEC23B DICER1 SLC26A4 PIK3CA TG AKT1 GREM1 GNAS ITCH FAN1 DUOX2 CDH23 NSDHL PTEN USF3 IL18BP KLLN PRKCD MSH6 RET TP53 IYD IL2RG CTLA4 ADAMTSL1 CDC73 PAX8 EPCAM KCNJ18 MLH3 CHD7 THRB EYA1 TSHR RAG2 CASP10 CLCNKB NRTN HABP2 SDHD ZFAT C1S RMRP ADA NKX2-5 IDH2 POLG2 STAT5B NLRP1 RASGRP1 HRAS TBX2 EDN3 MSH3 ALMS1 KCNJ10 MDM2 MSH2 FASLG WRN BMPR1A MST1 LIG4 POLR1C CDKN2A TGFBR2 ATRX CDKN2C MMP2 RAG1 MINPP1 RRM2B JAG1 SEMA3D TWNK CDKN2B GDNF CCBE1 SEMA3C MEN1 LRBA IL2RA MLH1 SDHC TTC7A GPR35 POLG KEAP1 MMP14 DMPK DNAH1 PLCG2 FOXP3 RCBTB1 PMS1 EDNRB ADA2 CHEK2 SIX1 IDH1 TCOF1 SDHB FLCN KAT6B ECE1 LIFR IRS4 SLC12A3 LMNA RPS20 CACNA1S FOXD3 SRGAP1 POLR1D SASH1 SEMA4A TCF4 SLC25A4 HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER CACNA1S GABRA3 KCNJ18 CLCNKB TSHR SLC12A3 HP_CENTRAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOTHYROIDISM TDGF1 NODAL TRAF7 TERT GLI3 NIN CDON PROP1 SMARCE1 DLL1 TBL1X DISP1 TGIF1 FOXH1 PTCH1 LEP SIX3 TRH GAS1 CDH23 DMXL2 POU1F1 SHH MAGEL2 NDN CTNNB1 SNRPN SETBP1 LHX4 FGF8 SUFU RBM28 OCA2 KATNIP BAP1 TMEM67 SMC1A SMARCB1 ZIC2 HESX1 GLI2 STAG2 NF2 LHX3 PDGFB AIP MEN1 LEPR SIM1 POU3F4 SOX3 AKT1 FOXA2 IRS4 FGFR1 BRAF POMC PIK3CA OTX2 INSR PCSK1 ARNT2 SMO HP_NEOPLASM_BY_HISTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_BY_HISTOLOGY RAD51D EXT2 H19 WT1 CDKN1A BUB1B VEGFC ERCC3 CXCR4 C11orf95 PRKAR1A SMARCE1 RAD51 KCNH1 RB1 PMS2 SLC6A17 TTC37 KRAS TSR2 DIS3L2 FLT4 XPC DDB2 NRAS TUBB PLCD1 KANSL1 CDKN2B AKT1 ALX4 NSD1 BDNF PTEN MLH1 RPS19 DLC1 TSC2 SETBP1 USF3 ADA2 COL1A1 ANTXR2 POLD1 PRKCD APC MSH6 PALLD ASCL1 FIBP CDC73 REST OFD1 SMARCB1 DMRT3 EPCAM TSC1 MLH3 PALB2 BMPER GPC3 TRIM37 AURKA PIK3CA PHOX2B RELA MITF RAD51C GATA4 TERT MNX1 ATP6V1B2 NF1 DYNC2LI1 BRAF TP53 SKIV2L DHCR24 IDH2 KIT HRAS EWSR1 NBN TRIP13 KIF1B RASGRP1 SLC25A11 GJC2 MYO1H MSH2 TRIM28 COL18A1 CDKN1C MSH3 BARD1 PDGFB RPS15A BAP1 RET BLM YY1 NF2 TAF15 WRN BMPR1A RECQL4 TRAF7 PDGFRL POLE MEN1 BRIP1 MVK MAP2K1 CDKN2A SIX6 SPRED1 TMEM216 VHL RPL11 SDHB GPC4 ERCC2 ACTB IFNG BUB3 CTSC ZFPM2 ACD ABCA5 PRLR KCNN3 DHX37 RPS10 KCNAB2 BRCA2 FH PAX6 SUFU POT1 KRT17 SMO PTCH1 DICER1 NR0B1 NOTCH3 PTPN11 VAMP7 RABL3 ASPSCR1 MCC KEAP1 CDK4 MAX SOX9 BRCA1 RNF43 COL7A1 KCNQ1OT1 FLCN CHEK2 SSX2 RPS24 ERCC5 RPS28 FOXC2 EXT1 PERP XPA SDHC RPL18 RUNX1 DLST IDH1 GABRD MMP1 BRD4 MTAP MC1R IGF2 RPL5 FGFR3 SOS1 PLA2G2A PHF21A SDHA RAF1 RAD54B ERCC4 ERBB2 TCTN3 PTPN12 SMARCA4 SMAD4 MRE11 MAP3K1 CREB1 RERE RSPO1 STK11 FLNA GLI3 AXIN2 NR5A1 PAX7 ELMO2 CDKN1B GCDH FAS GDNF SEC23B PTPRJ TRPV3 BUB1 KIF7 GREM1 FAN1 SDHAF2 FAM149B1 PKHD1 CPLANE1 SRSF2 KLLN RPL35 RPL15 TET2 RPL31 POU6F2 PDE6D ASXL1 SLC37A4 KIAA0753 GNAQ NEK9 CASP10 FLI1 GATA1 RPL26 GDF5 SLC22A18 SDHD SOX2 BAX SKI NUTM1 KRT10 ERCC6 CCBE1 ANAPC1 SETD2 SRC ACVR1 MGMT CTNNB1 NLRP1 MDM2 CBL POLH PTCH2 DLK1 RAD50 FASLG RPL27 SF3B1 ADAMTS3 RSPRY1 OCA2 TGFBR2 CDKN2C PDGFRB RPS17 SSX1 DZIP1L KRT1 TMEM127 APC2 SRY RPL35A MEG3 PRDM16 RPS7 MBTPS2 RTL1 TFAP2A EDN3 CEP57 SQSTM1 COL4A6 CCND1 GNAS DMPK PCGF2 MDH2 PMS1 DCC PAX3 FAT4 RPS26 NR4A3 LRP5 HDAC4 COL4A5 CYSLTR2 RPS29 FGF3 TYR LMNA RPS20 KCNQ1 GNA11 TERF2IP TBX18 FOXO1 BMPR1B TLR2 RPS27 SEMA4A EP300 MAPRE2 DKC1 PDGFRA FAM20C WWOX PTH1R HP_EMBRYONAL_RENAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_RENAL_NEOPLASM IGF2 PALB2 WT1 H19 BMPER BUB1B GPC3 TRIM37 SOX9 NR5A1 GPC4 PIK3CA KCNQ1OT1 TP53 CDC73 GATA4 DICER1 DIS3L2 HDAC4 FIBP REST BUB1 ALX4 TRIP13 TRIM28 NSD1 BUB3 KCNQ1 ZFPM2 SRY POU6F2 SETBP1 PHF21A CDKN1C DHX37 BRCA2 PAX6 CEP57 PTCH1 BLM EXT2 NR0B1 MAP3K1 VAMP7 DMRT3 WWOX HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE NOD2 CLIP2 UNC80 VCP CDH11 PPP2R2B SOST COX6A2 AP4M1 STRADA PEX5 CHRND COL6A1 PEX19 SMARCE1 DMD SHANK3 ABCC9 GDI1 BTNL2 CCDC22 EYA1 ACTN2 ZNHIT3 GMPPB SLC35C1 MYH7 PSPH PLCD1 GNAQ POGZ SUMF1 PPP2R5D ADAMTS2 SLC29A3 PSMB8 ARHGEF6 MYL1 PEX1 F12 CLCF1 MLH1 KCTD1 GTF2I NEB DHCR7 SETBP1 USF3 ASXL1 GSN EPHB4 POMT1 DSE PEX10 AGRN NEFL TP63 SYT2 SEMA3E RYR1 GAN SPEG CC2D1A ANKH CHRNA1 MSTO1 POU3F3 SMARCB1 ADCY5 CRPPA TSC1 TBL2 POLG2 CHAMP1 SNX14 ZMPSTE24 SCN4A FTL NLRP1 UPF3B NGLY1 GNE SELENON ATP13A2 SNAP25 TXNL4A CHRNB1 COL6A3 PEX13 FRMD4A SALL4 IQSEC2 SYNE1 AKT1 GAA KCNK4 DOK7 ADSS1 ERCC8 SHMT2 SLC18A2 LIMK1 IRF6 MTM1 ANO5 GRIA3 IRF2BPL HLA-DRB1 CLCN7 SLC39A14 CHAT C12orf65 SPR MSH2 CAPN3 CHRNE RNASEH1 ALB NARS2 PAX7 YME1L1 COL5A1 MYPN SOX18 LRRK2 ACTA1 CAMTA1 SH3TC2 YY1 TPM3 NF2 DMPK GBA GFPT1 TNFSF11 SLC18A3 PEX11B RAB11B SIX1 TTN STAG2 MUSK VAMP1 POMT2 PEX12 RECQL4 TRAF7 DNMT3B KLHL41 AIP MEN1 GNPTAB CNTNAP1 PLEC PAK3 COL13A1 LRP5 COL4A1 TUBB3 DCTN1 MECP2 ACADS SLC30A10 CD96 JAM2 LARGE1 TWNK PEX6 TECPR2 IFNG MSH6 MTMR14 AMPD2 AGTR2 SQSTM1 HOXB1 PIEZO1 TREX1 AP4S1 PEX2 ACTB PRTN3 CNKSR2 GJC2 SUFU POLR3A KRT17 AP4B1 BIN1 MPZ CAMK2G ABCA1 TK2 LTBP4 SNX10 AMER1 LRP4 ZNF41 LRP12 TCIRG1 SERPING1 ASAH1 PLA2G6 HLA-DPA1 DNA2 PPARG KLHL40 SLC9A7 LAMB2 FRMPD4 TNFRSF1A SMCHD1 DES ADGRG1 CHCHD10 CTLA4 CXorf56 SLC25A21 PPP2R1A SDHB ELN SLC12A6 SRPX2 DUX4 ANTXR1 PTPN22 TPM2 AP4E1 ATP1A3 SYNJ1 KPTN FTSJ1 KNSTRN LMNA HCFC1 DLL4 FKRP NUTM2B-AS1 TET3 DNM1L ATP6AP2 GLI3 MGAT2 POMP PTDSS1 SLC6A3 PODXL TRPV4 REV3L ALG2 MYMK ITGB4 COL5A2 POLG ABCD1 VPS35 SLC26A2 DNAJC13 STAC3 SEC23B TUBB6 PIK3CA CRYAB SLC5A7 TRIM32 GTF2IRD1 RPS6KA3 MEGF10 SLC52A3 COL1A1 LMNB2 ESCO2 KLLN RFC2 NRAS TGFB1 MGME1 FRG1 BAP1 PEX14 DLG3 HAVCR2 PRKCG LMOD3 KDM5C MAN2B1 KIF1A SPTBN4 SIX5 KCNJ6 PIK3CD ERCC6 COL6A2 WASHC5 GPR101 CACNA1A SNCA ADA2 ZMIZ1 PDGFB CHD7 SDHD FBXO7 CACNA1S USP9X PEX26 FOXG1 MED12L MT-TN PTRH2 DNM2 GLE1 ATP1A2 NEU1 SLC25A42 ATXN1 NECTIN1 ANAPC1 PSMB9 EIF4G1 ALS2 CFL2 MED12 PURA SCO2 OFD1 ACSL4 PTEN RIN2 MYOT KCNK9 IGSF3 DNAJB6 SMO VPS13B AK9 COL12A1 TERT SLC25A1 DNAJC6 CRLF1 SURF1 BAG3 XYLT2 ZNF81 ATRX CHKB UBA1 SLC25A4 TBCD RRM2B PYROXD1 SYP MID2 PLAA GNA14 ACTG1 PSMB4 ZNF711 SCN1A SUCLA2 ZC4H2 HERC1 CCBE1 KBTBD13 RAPSN PEX16 ALG14 TFAP2A COLQ SDHC KY CLCN4 ALG13 GJA1 SLC52A2 PCGF2 PLXND1 DPAGT1 MSX1 PTCHD1 TSPAN7 RAB39B KAT6A PEX3 USP27X ARX FKTN HRAS OPA1 ADAMTS3 BMS1 MYD88 PABPN1 MTMR2 BAZ1B MYO9A GIGYF2 PUF60 SGCD HK1 HLA-DPB1 FLNC LAMA2 KRAS PI4KA IL1RAPL1 PRRT2 GIPC1 TSC2 MT-TE EBF3 ADCY6 SPTBN2 ZBTB11 HP_MIDFACE_RETRUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDFACE_RETRUSION TMEM165 HSPA9 RAC3 COL11A1 KMT2C COL2A1 FOXG1 CHD3 WNT5A TONSL ATRX SF3B4 FLNB DMD LBR CEP120 RRAS2 NRAS PIGV GDI1 RASA2 ERF MGP BICD2 SLC26A2 MTOR FLII ZIC1 ACP5 ZNHIT3 KIF15 MLXIPL FIBP TCF12 POGZ FGFR1 FGFR2 RAI1 B3GALT6 CDH11 MECP2 KIF22 RAB3GAP2 FAM20C ITCH FOXC1 ARHGEF6 MEGF8 RPS6KA3 FGFR3 SETBP1 PIK3R1 DSE GRIN1 SLC9A7 SMCHD1 SEC23A PDE4D POR SEC24D PKD2 POLR1A CHD1 DLG3 RAB3GAP1 BPTF NKAP TBX1 PRKAR1A DDR2 SOS2 KIF1A BRF1 DEAF1 LIFR A2ML1 RNF13 LRP2 ACAN SOS1 RAF1 SMAD4 UPF3B ZMIZ1 PRKACA NSMCE3 NXN RFWD3 TCF20 LMNA COL1A1 USP9X CCDC8 CPLX1 IQSEC2 PEX1 CTSK DVL3 FAT4 SKI ACTB TUBGCP2 TSEN54 BMP2 SATB2 OBSL1 DVL1 EHMT1 IFT81 PTCH1 TMCO1 NEPRO CHST3 CDK19 CCDC47 MED12 UBE2A LINS1 COL18A1 SHH ACSL4 DHX37 CDKN1C ROR2 COL11A2 NFIX GMNN YME1L1 PTRH2 AGL IFT52 MRAS FZD2 RPS28 FAM50A EBP CBL MN1 IGF2 POLR1C MAF PITX2 SOST ZNF81 MRPS14 PAK3 SLC6A8 HDAC4 H19 MYSM1 SMC1A DLX4 GPC4 USB1 SYP CLCN4 WDR73 CILK1 TSR2 MID2 BUB1B PTPN11 EFTUD2 RUNX2 P4HB SOX11 B3GAT3 PSMD12 AMPD2 AGTR2 ZNF711 POU1F1 HECW2 HOXB1 CTCF CUL7 RAB23 CNKSR2 KCNAB2 PRDM16 BCL11A KRAS ZBTB20 GLI2 AIFM1 BANF1 WASF1 ALG13 TWIST1 LTBP4 AMMECR1 PPP2R5D CANT1 MAN2B1 ZNF41 COX7B MED13L PLP1 IARS2 CDC42 PTCHD1 SLC25A24 TSPAN7 NDUFB11 OSGEP ALG12 RAB39B MESD KAT6A MIR140 SERPINH1 FRMPD4 FBN1 ELN USP27X ARX STAC3 B4GALT7 RRAS CXorf56 BMP4 TCOF1 TGFB3 NECTIN1 PDGFRB NF1 GABRD RIT1 SLC35D1 FLNA GHR IREB2 KCNQ1 KCNQ1OT1 SIX3 COG1 ANTXR1 POP1 WAC LZTR1 DCHS1 POLR1D LRRC32 IL1RAPL1 HCCS WDR35 TBL1XR1 FTSJ1 LRPPRC SP7 ATP6V0A2 HCFC1 PYCR1 CSGALNACT1 RERE POMGNT1 HP_HAMARTOMA_OF_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_TONGUE C2CD3 KIF7 CPLANE1 NEK1 TMEM216 TMEM231 DYNC2H1 TMEM107 WDPCP PLCB4 TCTN3 PDE6D FAM149B1 KIAA0753 OFD1 EDN1 INTU GNAI3 HP_BIFID_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NOSE ALX1 ZSWIM6 FREM1 ALX4 ALX3 HYLS1 TBX4 NF1 HP_TYPE_1_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_MUSCLE_FIBER_ATROPHY HACD1 LMNA FHL1 ACTA1 TPM3 ALG14 TPM2 MYL2 HNRNPK ITGA7 SYNE2 RYR1 SYNE1 TMEM43 SELENON MAP3K20 EMD HP_DECREASED_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PATELLAR_REFLEX FBLN5 HADHA LDB3 HADHB MYH7 DYNC1H1 HP_INCREASED_CEREBRAL_LIPOFUSCIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CEREBRAL_LIPOFUSCIN PPT1 CLN8 CLN5 PSAP CLN6 CTSD TPP1 CLN3 DNAJC5 HP_BASAL_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_ENCEPHALOCELE CDON ZIC2 FGF8 PTCH1 SIX3 TGIF1 TDGF1 SHH DLL1 GAS1 DISP1 GLI2 FOXH1 ALX3 NODAL HP_SUBMUCOUS_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_SOFT_PALATE GRHL3 TP63 UBB NEK1 SON KCNK9 POLR3A STAC3 HP_ABNORMALITY_OF_FACIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SKELETON WDR35 CLIP2 NFIX CDH11 WNT10A YY1 SF3B4 SUZ12 SHANK3 SLC9A6 ABCC9 BRCA1 CFI SPATA5 GPC6 TUBB FMR1 CCDC114 PEX6 ARCN1 CEP55 TGFBR1 POGZ TRPS1 FGFR2 AKT1 MAN1B1 BMP4 CTNNB1 CCDC103 NSD2 DHCR7 PAX1 NSDHL ABAT PIK3R1 ASXL1 SMAD3 GNAI3 HYMAI FGFR1 TNNI2 ACTL6A RNU4ATAC ARX LRRC6 VPS13A FUCA1 MSTO1 KCNH1 TMEM107 PDE4D BRF1 DHODH DGCR8 BRCC3 GAS8 FAM111A PEX5 DEAF1 PEX26 ZMPSTE24 GLB1 XRCC2 SOS1 GP1BB DNAAF6 NELFA KCNE5 DYNC2I2 PYCR2 ERCC5 EYA1 BRAF SATB2 AXIN2 ERCC8 NBN RELN GRHL3 HRAS DNAAF1 GRIA3 PTPN11 COG7 TGFB2 POLR1B RDH11 GMNN ATAD3A LAGE3 TMEM70 HPDL ERF RAD51 GFPT1 DVL3 SMC3 KIF7 DKC1 SEMA5A RBBP8 DPH1 CHRNE TBC1D20 VAMP1 MAGT1 IGF1R AIP MAF COL2A1 HSPG2 RBM8A CDC73 TMEM216 KMT2E FANCD2 RLIM RHOBTB2 COL6A3 TONSL CLCN4 FDFT1 DLG1 ALX3 ASPH POLD1 CRKL DIS3L2 BUB3 MYH7 RUNX2 FLCN HDAC6 RTL1 PTH1R IRF6 COL13A1 UBE3A RPL10 TWIST2 SPEF2 RAB23 PEX2 TWIST1 RSPH4A TRAIP ZBTB20 C12orf57 B3GLCT GLI2 PEPD TAT NONO IL1RAPL1 GTF2H5 LTBP4 UBE3B RBM10 NSUN2 MYL2 ACTA1 HDAC8 TAF1 KCNJ2 LAMB2 TBX1 GJA1 CHN1 ASNS MSX1 PSMD12 B4GALT7 IL2RG OPHN1 LTBP3 TP63 GEMIN4 PRKAR1A BLNK ZEB2 RNF113A NECTIN1 B3GALT6 COL11A2 LIFR FLNA RIT1 IFT80 MYPN PRMT7 NOP10 FGF3 ANTXR1 DCHS1 RPL5 DPAGT1 SLC35D1 IGF2 ERCC4 HCCS SLC29A3 MAD2L2 ANKH CD79A ADA WDFY3 PPP1R12A ASXL2 FBXW11 NCF4 MYH8 TMCO1 VPS33B NME8 CACNA1G DNAAF4 PQBP1 FGFR3 DOK7 PGAP3 CD19 MKS1 CCDC151 RRAS2 PIGV PRRX1 CD96 MAFB PAX3 PIGN UFD1 PYCR1 AMMECR1 TPM3 TRMT1 SMC1A NUP107 ANKRD11 PLAGL1 CCDC65 DNAH5 MED13 GLDN TTC25 GTF2IRD1 NCF2 ESS2 TPRKB ESCO2 SEC24D PALB2 ELN SLC25A19 ANK1 TGFB1 PDE6D LIG4 ZBTB18 HYDIN AHDC1 NALCN SEMA3E EZH2 GPC3 B9D1 TAP2 ERCC2 BCR KIF1A ATR CYBC1 IVNS1ABP SELENON LRP2 ZMIZ1 GATA1 RFX5 DNAH11 KDM6B LRP4 LMNA FOXP1 RPGR INSR ABCD4 TRIO PTCH1 NEPRO CHST3 CAVIN1 NSMCE2 KDM5C KCNK9 TPM2 FAM50A JMJD1C CBL PTCH2 RPL27 SPAG1 ADAMTS3 CNOT2 ERCC3 SLC25A1 PITX2 CRLF1 IFT43 UBA1 NDP KRAS RSPO2 WAS CRPPA TBCD DSTYK DZIP1L SOX9 USB1 CFAP300 PLAA DRC1 LARP7 ACTG1 PSMB4 SH3BP2 ZC4H2 NIPBL HERC1 ARL6IP6 CCBE1 FOXE3 KBTBD13 SNRPN PIEZO2 HACD1 PIGY RPS7 CD79B TGFB3 TFAP2A RAI1 ORC6 COLQ MTX2 COL9A3 BLM ARMC4 TINF2 PRKACB PCGF2 HMGA2 GNPAT COX7B MED13L COL12A1 EFL1 ODC1 CHD7 MESD WDPCP TCOF1 IBA57 ADA2 TOR1A COL6A1 DNAJB13 RPGRIP1L AFF4 STAC3 FLNB PIGO CDC45 EP300 SLC18A3 NSD1 FANCL HS6ST2 EBP OTX2 TAP1 HNRNPU ORC1 CDKN1C PIGU TNNT3 KLHL7 RSPH3 STAMBP IDS CSNK2A1 P4HB TBX4 GATAD2B PSAT1 FARS2 UNC119 TBL1XR1 ABL1 PIGW COL11A1 SMPD4 COL5A2 SOST FBN2 SCYL2 AP1S2 SLX4 TSR2 IGBP1 TRMT10A TENT5A CHST14 RPGRIP1 HNRNPH2 NRAS MLXIPL ANKLE2 MBD5 SCN9A ALX4 CPLX1 OCRL MEG3 ATP6V1A RPS19 SETBP1 PTEN TNFRSF11A SLC6A17 CLTCL1 TELO2 RSPH1 GAS2L2 AUTS2 IGF1 ALX1 LRP6 DNAL1 CDC6 DYNC2H1 PPP1R15B MITF ATP6V1B2 UPF3B DHCR24 DNAI2 CASK C2CD3 WASHC5 WDR4 HERC2 AGRN IQSEC2 ERCC1 CTC1 PEX3 COL5A1 RPS28 ARHGAP29 DNAAF3 CEP135 TTN CHRNG RFXAP MAT2A PCNT RFT1 POLR1C DNAAF5 SLC3A1 PMM2 SPRED1 KL IFIH1 LETM1 POLR3A BNC2 GPC4 TAPBP GLE1 MPLKIP PEX7 HOXB1 PIEZO1 PGM3 ATP6AP2 BCL11A TFAP2B CA2 DGCR2 SRY EDARADD HSD17B4 SETD2 IRF8 COL1A2 KAT6A BTK FGD1 DNAAF2 DYRK1A COL6A2 OSGEP PEX14 DPM2 MED12 CTLA4 GORAB PIK3C2A LOX MEN1 UBE2T MCM5 PHF21A ERCC6 SLC10A7 SH3KBP1 ATP6V1E1 PLK4 DNAI1 KIF11 NGF CCDC39 RAB18 TMEM165 APC GLI3 CTNND2 LRP5 AEBP1 REV3L ACSL4 CEP120 RASA2 SH2B1 KCNJ6 EXTL3 ZNF341 COG6 CTBP1 AP2M1 ATRIP FLII SBDS RAF1 ZNHIT3 TERT FANCB NUP133 MECP2 C1R RAB3GAP2 NOTCH3 MEGF8 PNKD DONSON COL1A1 TAB2 RREB1 PKHD1 DNMT3B SEC23A TANC2 CPLANE1 MAGEL2 RPL35 SETD5 RPL31 HIRA STK36 PEX1 DDR2 PHGDH BCL11B SIX5 CENPE NRXN1 FANCI COL9A1 DSE PAX6 PRKACA FOXG1 BDNF COG1 TGDS SLC2A10 TUBGCP2 SUFU LMOD3 NCF1 SLC5A7 NUP88 IKBKB SRP54 CIITA DVL1 GAD1 MYOD1 AIMP2 PLOD3 MYH3 AGL IGSF3 DLK1 MAP2K2 CTDP1 TAPT1 CEP152 SCARF2 PIGT CNTNAP1 ATPAF2 NXN NEB CCDC40 GNPTAB PEX19 MGP PYROXD1 VPS35L ANO5 NF1 BRIP1 CILK1 EFEMP2 EMC1 GALNS CDK5 EFTUD2 BGN KMT2A SLC25A24 EXT2 SALL4 CEP57 BANF1 DYNC2I1 TCTN3 TTC12 FOXJ1 RAB3GAP1 TMEM237 AP4M1 HUWE1 SLC35A3 ATRX BRCA2 FAT4 RPS26 IL21R CSPP1 BCORL1 RARB FLVCR2 IL11RA LZTR1 RFWD3 RTTN RPS27 MAPRE2 YARS2 OFD1 HNF4A ARNT2 APC2 PUF60 ADGRG6 CXCR4 WNT5A AGA KDM6A RB1 PRKG1 TCF3 BICD2 DPYD XPC DDB2 RTEL1 CCDC22 ACP5 CXorf56 PSPH CREBBP NEDD4L MRPS22 ZBTB24 KIF22 FAM20C FRMPD4 TBX15 CENPJ KCTD1 FANCM RSPH9 THOC6 SLC26A2 CDT1 ITGA8 KIAA0586 BRAT1 BSCL2 SYT2 SPEG BPTF CR2 INPPL1 TBL2 FBN1 SHOX ITGA7 CHRNA1 CLCF1 UBB POLE TXNL4A MUSK IL17RA RUSC2 ACAN DNAH9 TBXAS1 COG4 KCNK4 ACTB TSEN54 VAC14 OBSL1 LRRC8A LIMK1 SIM1 EDNRA MSL3 CLCN7 CHAT ALG11 GJB6 FTO LBR SMS SPECC1L PAX7 WDR73 RPS15A TNFSF11 MYBPC1 KIFBP MAMLD1 RECQL4 RSRC1 PUS1 NCAPG2 BPNT2 PGAP2 WIPF1 PIGA TNFRSF13C EIF4A3 COMT GPKOW FUT8 MADD TBC1D7 RPL11 MED25 PAX9 DYM NAA10 FBXL3 TCTN2 VANGL2 PEX10 RPS10 PRTN3 MAP2K1 GRIP1 GBA RFXANK D2HGDH NHS CANT1 WNT3 SIX1 TCIRG1 LGI4 FOXE1 BMP2 NDUFB11 HLA-DPA1 ATP7A DOCK3 EDN1 CYBB RAC2 FHL1 FANCC IGLL1 RRAS TRIP11 KAT6B FOS PDGFRB GATA4 STAG1 SPOP NTRK1 SPRTN SRPX2 STRA6 SC5D CUL7 EMG1 EPG5 LRRC32 ATP6V0A2 CWC27 AIFM1 POC1A SEC31A PEX11B PTDSS1 TGFBR2 DGCR6 FZD2 SIX2 MYT1L VPS53 FOXF1 MAPK1 AMER1 ACTL6B RIPK4 LEMD3 PIK3CA GNAS FOXC1 SOX6 NUP188 OCLN INTU FAM149B1 ZMYND10 DNAJC21 DOCK8 NEK9 SMCHD1 TRRAP RPL15 RFC2 RPS6KA3 ADAMTSL1 ORC4 SOX18 ALG14 DDX6 KIAA0753 UNC80 ALG9 KNL1 TBCE SON CNOT3 POLR1D GHR DLX4 ADAMTSL4 CNOT1 CYBA PNP MCTP2 EHMT1 PSMB9 FANCE CFL2 SMAD4 SHH COASY NEK1 CTU2 CEP290 STAG2 PLA2G6 PHIP ERGIC1 INTS1 CSNK2B RSPRY1 SIN3A TMEM231 HYLS1 PLEKHM1 PUS7 ATP10A HBB PIGQ CC2D2A P4HTM MYMK ARID2 SVBP EDA MCIDAS TOE1 POU1F1 MOGS PRRT2 HYOU1 RPL35A PEX16 AGPAT2 TARS1 CTSK ADAT3 CENPF FANCF CDCA7 XRCC4 ELANE PLXND1 TGFA ARVCF SLC39A14 SERPINH1 PREPL SLC16A2 BAZ1B MYO9A SIX3 ERBB3 MYCN SH3PXD2B KLHL41 LAMA2 OCA2 NFKB2 PAH MYO18B TRAPPC4 DPM1 ZBTB11 BIN1 PPARG RAC3 BUB1B POLA1 TRIP4 SKI LOXL3 CHRND SLC35C1 ICOS MAP3K20 CFAP298 C1S KIF14 SEC24C ADAMTS2 PSMB8 GTF2I CCNO HBA2 NEK10 MYLK SOS2 MIR140 OTUD6B BMPER TRIM37 STXBP2 IGHM PRKCD PEX13 POR SNAP25 WNT10B CCDC8 WDR26 SFRP4 MFAP5 CNTNAP2 NTNG1 TCF20 DNAH1 PURA SNIP1 NOTCH2 DNA2 MRAS CRIPT SLC6A8 PLCB4 PIGB PI4KA SUMO1 TERC DNMT3A COG5 COG8 EED UBE2A KPTN COL3A1 SSR4 PKDCC ERMARD B3GAT3 OSTM1 KCNN3 COLEC11 TP53RK HBA1 SMO TAZ NPM1 SLC12A2 MAN2B1 IDUA RPS24 ADGRG1 RPL18 ZDHHC9 SLC12A6 TRIP13 EXOC7 RAPSN PTPN22 LRPPRC SP7 RAD21 PEX12 CSGALNACT1 MTM1 CHSY1 MGAT2 ALMS1 DOCK6 AP3D1 ACTA2 BUB1 GTF2E2 VPS13B ARID1B MYH11 TBCK POLR1A GSC SNRPB A2ML1 NARS1 GPR101 SOX5 RPL26 ZNF335 RAD51C MMP2 CHUK XPA SMOC1 RYR1 PIGL CDH1 PGM1 ROR2 ALG1 WRAP53 NHP2 IRX5 RERE TUBB3 TBX22 ECEL1 WNT7A ATM PPP3CA HDAC4 RPS17 CUL4B CCNK RNF125 LRRC56 CAV1 LAS1L FIG4 SLC6A9 CFAP221 B9D2 LRBA PARN CCDC88A MTHFR ACTG2 MDM4 CLIC2 EXT1 FCGR3A IARS2 RNF168 RHOA FGFRL1 TNFRSF13B TMEM67 HNF1B WT1 MAP3K7 RPS29 TASP1 IGFALS PLAG1 ADAMTS10 HLA-DPB1 FANCG FANCA VARS1 COL9A2 HELLS POMGNT1 SVIL HP_BROAD_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CHIN DYRK1A KANSL1 STXBP1 EBF3 TAF1 SLC12A2 WAC LMX1B HP_CHIN_WITH_HORIZONTAL_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHIN_WITH_HORIZONTAL_CREASE TRPS1 FOXP1 DLK1 TWIST2 RTL1 MEG3 HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY LYST ZAP70 CLIP2 COL17A1 CDKN1A GFI1 GP1BA CXCR4 WNT5A AGA DSP PRMT7 RMRP KCNH1 TINF2 ABCC9 STAT5B FAM20A RTEL1 MMACHC ZNHIT3 SLC35C1 KRT5 STAT4 C1S OCRL FAM20C ADAMTS2 SLC29A3 PTPRC IL23R TBC1D24 NEU1 GTF2I PML SETBP1 FGG HYMAI ANTXR2 IL18BP BCOR PRKCD KRT14 BLOC1S3 KRT4 EVC GNAQ COL7A1 STAT3 SLC17A5 GLI1 TBL1XR1 REST LAMB3 NLRP3 IL7R TSC1 LAMA3 TBL2 DCLRE1C DDR2 RARA NXN F10 UBAC2 NHP2 ATP6V1B2 LAMC2 COL3A1 IL10RA XYLT2 KCNK4 DHCR24 VAC14 LIMK1 FGA ITGB3 JAK2 MMP14 RASGRP1 IL12A CTC1 NFIX IRAK1 ALMS1 DHCR7 FZD2 C4A DVL3 DKC1 CAT NOP10 GLMN F7 ENG SLC46A1 ITGB4 GBA MVK CNTNAP1 TERC NABP1 ELMO2 WIPF1 SLC6A19 PIGA JUP CARMIL2 KYNU CCR1 F13A1 CD96 RHOH PRKAR1A IFNG CDKN2B PIGS CTSC FGB ZEB2 ABCA5 SC5D OSTM1 KCNN3 DYNC2LI1 ITGA2B TERT ACD NOTCH3 GNPTAB F2 IDUA TNFAIP3 NPM1 ERAP1 MAN2B1 FERMT1 IL1RN XYLT1 AEBP1 CYBB CD27 DVL1 PERP WDR26 RALGAPA1 CD40LG NOTCH2 GJB6 LBR NOD2 MEFV ELN HLA-B FGFR2 WAS MMP1 TET2 NTRK1 MCFD2 SOS1 SCARB2 TBCK C1R PRF1 ELANE PLG GJB2 KRT6A NCF4 NGF TMCO1 KCNMA1 SRP54 SLC37A4 STK11 SAMD9 MGAT2 GORAB ZBTB16 SPP1 SH3PXD2B EXTL3 FAS USP9X F8 SBDS PARN TRPV3 PLAGL1 ACVRL1 B4GALT7 IL10 GTF2IRD1 NCF2 GP9 VPS13B ORAI1 SERPINF2 IL6 RFC2 ITGB2 F13B GP1BB HPS1 KIF1A CYBC1 KCNJ6 ECM1 CDKN1B CASP10 PRKDC PIGN CYBA INSR NLRP12 NAGA MMP2 TGDS NCF1 KRT16 CCBE1 SMAD4 AIMP2 RIN2 ROR2 RIPK1 WRAP53 IL12A-AS1 MAP1B FASLG SAA1 KIF23 ADAMTS3 KIF7 EMC1 CDKN2C MYSM1 HYLS1 IDS RNF125 USB1 EDA KRT17 FIG4 LMBRD1 HYOU1 AP3B1 DNAJC21 WDR1 MEN1 MBTPS2 MTX2 F5 TCTN3 TLR4 EFL1 IER3IP1 FAT4 PLEC NUMA1 LMAN1 IRF9 ADA2 GUSB FGF3 KLLN MYD88 BAZ1B GLB1 FIP1L1 MPL KLRC4 PDGFRB EVC2 IL17RC ABCC6 ITGA6 RELA KRT6B TSC2 FCGR2C IRF2BP2 TCIRG1 ITK HP_OVERHANGING_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERHANGING_NASAL_TIP COG4 METTL5 ATN1 TCF4 PRKACA HP_MOYAMOYA_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOYAMOYA_PHENOMENON RNASEH2B ADAR ACTA2 SAMHD1 BRCC3 RNASEH2C GUCY1A1 PCNT RNASEH2A TREX1 IFIH1 RNF213 HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY JAK3 CR2 CIITA DGCR8 RFXAP CD3E MAGT1 UMPS TBX1 CASP8 FAS CD19 DGCR6 GP1BB ARVCF NSMCE3 HLA-DRB1 ICOS RFX5 RFXANK LEP CARMIL2 RAG2 TNFRSF13C COG6 TNFRSF13B COMT UFD1 RASGRP1 WIPF1 RAB27A PNP CD40LG ADA CTPS1 CASP10 FASLG SEC24C WAS SLC39A4 AK2 TGFB1 EPG5 ESS2 PGM3 RREB1 RAG1 LEPR HIRA JMJD1C MRTFA DGCR2 GATA3 HP_ABNORMAL_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STERNAL_OSSIFICATION CD96 CPLX1 SOX9 FGFRL1 ORC6 NFIX LETM1 FIG4 NSD2 CTBP1 ORC1 VAC14 HP_ABNORMALITY_OF_THE_WING_OF_THE_ILIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_WING_OF_THE_ILIUM IDUA VANGL1 WNT7A TRAPPC2 AMER1 MMP13 RPS6KA3 ERCC6 GPC3 ATP7A MATN3 EVC PCNT GPC4 TRIP11 GNPTAB EP300 GLB1 ZBTB20 SMAD4 HDAC6 VPS33A EIF2AK3 SOX9 GPX4 FLNA CREBBP PHEX COL2A1 IHH NANS EED ERCC8 GALNS DYM RNU4ATAC B3GALT6 RUNX2 TBX15 FGFR3 BGN GATA1 SEC24D SEC23A MEG3 CCBE1 RAB23 GNPTG AIFM1 RTL1 PTH1R FUZ DLK1 ARSB EZH2 EVC2 DDR2 HP_ABNORMAL_PLATELET_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_FUNCTION ITGB3 GP1BA LYST GUCY1A1 A2ML1 VWF GATA1 ITGA2B SOS1 RAF1 RRAS2 GP9 RUNX1 WIPF1 NRAS KCNJ1 RASA2 FLI1 DTNBP1 WAS TBXA2R PLA2G4A CALR ABCG8 RRAS GNAS P2RY12 PLAU PTPN11 RIT1 GP1BB IKZF5 THPO AP3B1 LZTR1 SH2B3 RASGRP2 BLOC1S3 EPHB2 MRAS KRAS SLC35A1 CBL HPS6 SAMD9L NBEAL2 CISD2 SOS2 HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION GP1BA IKZF5 GP9 ITGB3 ITGA2B GP1BB HP_ABNORMAL_PLATELET_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MORPHOLOGY LYST ITGB3 TET2 WAS TP53 SLC35A1 ACTN1 GATA1 ITGA2B HPS4 HPS6 MPL AP3B1 NBEAL2 GFI1B SC5D JAK2 HPS3 RUNX1 WIPF1 CALR SH2B3 HP_ABNORMAL_PLATELET_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_VOLUME CD36 GP1BA FYB1 PRKACG GATA1 WAS ARPC1B SLC35A1 TUBB1 GP1BB ACTN1 GP9 CDC42 SC5D TTC37 ITGB3 FLNA LBR MYH9 ITGA2B ABCG8 SKIV2L HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION ITGB3 ITGA2B GP9 SLC35A1 GP1BB GP1BA HP_ABNORMAL_PLATELET_GRANULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_GRANULES LYST HPS6 AP3B1 NBEAL2 GFI1B HPS3 SLC35A1 RUNX1 HPS4 HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING F2 F13B F10 F13A1 SERPINF2 HP_HEMORRHAGE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMORRHAGE_OF_THE_EYE PROC ATP6V1A FZD4 BEST1 SF3B1 LRP5 TERC ERCC6 GNAQ DNM2 HMCN1 XYLT1 ERCC8 ABCC6 COL4A1 BAP1 GCDH TET2 RANBP2 XYLT2 CFHR3 CYSLTR2 TREX1 SBDS MYD88 IKBKG ENPP1 CFHR1 ZEB2 APOE GNA11 RB1 RS1 ATP6V1E1 ATP6V0A2 PRF1 ATOH7 IFNG CAPN5 TERT NDP HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA MCFD2 LMAN1 F8 F13A1 F13B KRT1 HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE GP1BA P2RY12 KIF23 F7 ITGB3 GP1BB IKZF5 MCFD2 GP9 VWF F8 F2 F13B F10 SERPINE1 ITGA2B LMAN1 F11 F5 F13A1 HP_POST_PARTUM_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POST_PARTUM_HEMORRHAGE F2 IKZF5 F10 KIF23 F5 SERPINE1 F7 F13A1 F13B F8 HP_ABNORMAL_LEUKOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEUKOCYTE_COUNT LYST ZAP70 STAT1 GFI1 CR2 SALL4 CASK DDX41 FANCE CXCR4 IL6R IL2RG JAK2 RMRP BRCA1 CTLA4 STAT5B TTC37 FANCI TSR2 RAG2 PTPN22 TCF3 NCKAP1L BTNL2 RPS17 MMACHC ACP5 EOGT SLC35C1 ICOS RPL18 NOTCH1 PDGFRB RAB27A ZBTB24 PIK3CD PRF1 TFRC ATRX RBPJ PTPRC SP110 TINF2 OTULIN CD3D CD81 RPS19 PML TGFB1 FANCM ADA2 JAGN1 HAX1 BCOR PRKCD FANCC SLC35A1 SMARCD2 FOXN1 FIBP RPS14 STAT3 TBL1XR1 AGA NLRP3 FDX2 IL7R JAK3 CHD7 SLC7A7 RNASEH2B MECOM IRAK4 SEC61A1 IGHM GSS LCK RARA XRCC2 CASR PRSS1 ARHGAP31 LMNB2 G6PD TNFSF12 COG4 SKIV2L ADA ABL1 FASLG LRRC8A CFTR XRCC4 MS4A1 CLPB NLRP1 MPLKIP KRAS RASGRP1 HBB HLA-DRB1 ASXL1 UBE2A FCGR2B CAPN3 SMARCAL1 NFKB1 FMO3 RPS7 DCLRE1C IRAK1 RAG1 RPS28 RAC2 GATA1 RPS15A DNMT3B BLM RAD51 TET2 STAT2 SPINK1 CIITA MTHFD1 RECQL4 RFXAP TNFRSF13C MAGT1 NBN VPS45 FCGR2A SLC46A1 GBA MVK SPINK5 TREX1 CARD11 NABP1 WIPF1 EIF2AK3 RFXANK FANCD2 FUT8 MTRR CPA1 USB1 DOCK8 RPL11 BLNK PRKAR1A IL6ST BLOC1S6 ELANE MYC SRP54 IL36RN PGM3 ATP6AP2 FERMT3 TRAF3 RPS10 TERT TLR3 ERCC4 ERCC2 XIAP TAZ CSF3R GTF2H5 TNFAIP3 TICAM1 MMAA WAS BTK FAS IL1RN HTRA2 PTEN RPS24 TNFRSF1A JAK1 NFKB2 IGLL1 CD40LG LACC1 RUNX1 CD40 TRNT1 CD247 TNFRSF13B TRAC UBE2T EPG5 RPL5 SCARB2 MAD2L2 KNSTRN CD79A FOXP3 FANCG UNC93B1 SLC37A4 BCR NPM1 CD3E SBDS STK4 SLC27A4 CASP8 RNF113A TERC ZBTB16 LAMTOR2 TONSL SPP1 FANCF EXTL3 ZNF341 CARD9 PIK3R1 AP3D1 SLX4 VPS33A PDGFRA PRSS2 SGPL1 FANCB ITCH GTF2E2 TDP2 RPL35A VPS13B IKBKG DNAJC21 SRSF2 CD79B RPL35 RPL15 NHEJ1 PALB2 CALR BACH2 ITGB2 RPL31 RRAS2 LIG4 SEMA3E BCL11B LPIN2 IVNS1ABP ATP6AP1 ARPC1B IFNG CASP10 NSMCE3 RFX5 CTRC PACS2 TBK1 RPL26 CORO1A LBR RAD51C TCN2 NLRP12 ABCD4 PNP RNU4ATAC CTPS1 TTI2 SARS2 CCBE1 ANAPC1 GATA2 EFL1 PSMB9 SF3B1 CYBC1 STAT4 STX11 PCCA CBL PRDX1 IL7 RPL27 SAMD9 ACAT1 DLL4 MMUT ADAMTS3 ATM ERCC3 TPP2 FANCA MEFV LEP GINS1 MYSM1 BRIP1 NRAS MMAB PSMB4 MYD88 AK2 SAMD9L LMBRD1 HYOU1 AP3B1 CD8A WDR1 CD3G FBXL4 LRBA SH2D1A IL2RA IKZF1 TBXAS1 TARS1 MDM4 CDCA7 ERCC6L2 UNC13D BRCA2 DOCK6 SREBF1 FAT4 G6PC3 RPS26 HMGCL NUMA1 RPS29 DOCK2 FIP1L1 RTEL1 MSN FANCL MPL RFWD3 STING1 LEPR CD19 RPS27 ETV6 IFNGR1 DNASE1 PCCB DKC1 IVD IRF2BP2 TFR2 KIT TCIRG1 RBM8A HELLS ITK UNC119 HP_NEUTROPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPHILIA TBK1 UNC93B1 SLC35C1 TICAM1 MEFV OTULIN TLR3 IL1RN MVK RAC2 IL36RN TRAF3 HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN FGG CFH SLC7A7 PRF1 LYST PRKAR1A NPM1 FIP1L1 CFI GNA14 CD46 ZBTB16 UNC13D PML RARA FGB SPTB AHCY NABP1 NGLY1 STAT5B SLC4A1 STX11 BCOR SPTA1 EPB42 ANK1 STAT3 FGA XIAP NUMA1 HELLPAR TBL1XR1 HAVCR2 IRF2BP2 NLRC4 HP_ABNORMAL_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMOGLOBIN GCK SBDS CYB5R3 GATA1 HBB HBA2 HBA1 HBG1 RPS24 KCNJ11 ABCC8 TSR2 RPL26 INS HNF1A RPS26 RPS28 NSMCE2 RPS17 KLF1 KLF11 PAX4 RPL11 RPL5 RPS19 CYB5A HBG2 RPS29 RPL18 MPL APPL1 ATRX PDX1 SRP54 HBD CD151 ADA2 CEL NEUROD1 HNF4A RPL35A DNAJC21 RPS10 RPL35 RPL15 RPS7 RPL31 RPS27 RPS15A MTX2 BLK MDM4 EPOR RPL27 HP_PERSISTENCE_OF_HEMOGLOBIN_F http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_HEMOGLOBIN_F SBDS HBB SRP54 ADA2 HBG1 RPS24 GATA1 RPL5 RPL35A DNAJC21 RPS10 TSR2 RPL26 HBG2 RPL35 RPL15 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 KLF1 RPS15A RPL11 RPS19 RPS29 RPL18 MDM4 RPL27 HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT MAP3K7 CHST3 COL3A1 NOG FLNA GDF5 HFE PQBP1 RNF13 B3GAT3 HP_ABNORMALITY_OF_THE_GLENOID_FOSSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA SCARF2 DYM LMX1B DLK1 ORC1 RTL1 MEG3 HP_CARDIOVASCULAR_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOVASCULAR_CALCIFICATION RNASEH2B STAT1 ADAR ABCG8 GALNT3 NKX2-5 ENPP1 PCSK9 LMNA HGD GBA ERCC6 GATA5 RNASEH2A TREX1 PDGFB NT5E ERCC8 ABCC6 PDGFRB ABCG5 SAMHD1 RNASEH2C IFIH1 SMAD6 ZMPSTE24 FBN1 MTX2 LDLRAP1 LDLR SLC20A2 APOB NOTCH1 HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN NDUFA11 PTCD3 NDUFS4 NDUFA4 ATP5F1E SURF1 NDUFA13 NDUFAF1 COX6A2 COX4I1 EARS2 IBA57 MRPS14 TIMMDC1 NFU1 ECHS1 TXN2 NDUFV1 FOXRED1 CARS2 NDUFS6 TK2 NDUFA10 TMEM126B DGUOK SLC39A8 SLC25A10 NDUFS1 NDUFS3 NDUFS8 PET100 MIEF2 MTFMT NDUFAF6 COA8 SUCLA2 COA3 MRM2 NDUFB10 TACO1 MT-ND2 NDUFA12 TRMT5 MRPS23 MRPS25 NUBPL MT-ND1 PDHA1 COX15 COX20 NDUFV2 NDUFB9 NDUFS7 NDUFAF8 TIMM22 PET117 NDUFAF4 COX5A ISCU TIMM50 SLC19A3 NDUFAF2 SLC25A26 GTPBP3 GATC NDUFS2 SDHA QRSL1 NDUFA1 MT-ND3 ACAD9 NDUFAF5 BOLA3 NDUFAF3 MRPL12 NDUFB11 NDUFB3 SUCLG1 TRMU LIPT1 MT-TE NDUFA6 NDUFA9 TSFM NDUFA2 GFER HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I NDUFA11 PTCD3 NDUFS4 NDUFB9 NDUFAF1 NDUFAF8 TIMM22 NDUFAF4 ISCU NDUFS7 EARS2 IBA57 TIMMDC1 NDUFAF2 SLC25A26 TXN2 NDUFV1 FOXRED1 CARS2 NDUFS6 GTPBP3 GATC QRSL1 NDUFA1 TMEM126B MT-ND3 ACAD9 SLC25A10 NDUFAF5 NDUFS1 NDUFS8 NDUFAF3 MIEF2 MRPL12 NDUFS3 MRM2 NDUFB11 NDUFB3 NDUFB10 SUCLG1 TRMU MT-ND2 MRPS23 MT-TE NDUFA6 NUBPL TSFM MT-ND1 NDUFV2 NDUFS2 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III TXN2 SUCLG1 GATC TSFM CARS2 ISCU EARS2 QRSL1 TIMM22 MIEF2 HP_SHORT_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_DIGIT KDM1A KDM6A PUF60 SOX4 WNT5A ATRX IFT122 PRMT7 SF3B4 KCNH1 DMD MAP3K7 RB1 GDI1 ZFPM2 MGP KCNA1 GDF5 CCDC22 MTOR EOGT NOTCH1 PIGQ POGZ TRPS1 FGFR1 FGFR2 LIG4 CDH11 SIK1 FAM20C HDAC8 ARHGEF6 GDF1 ARID1A IFT172 NSD2 DHCR7 ASXL1 ADA2 COL10A1 ACTL6A RNU4ATAC KCNJ8 KIAA0586 DYNC2I1 RAD21 GLI1 OFD1 HOXD13 LMNA ROR2 PDE3A MECOM PALB2 PDE4D DHODH FBN1 GPC3 DEAF1 CHRNA1 SOS1 UPF3B NELFA ACAN GGCX SALL4 IQSEC2 COG4 RAD51C AKT1 MASP1 IHH BRAF KCNK4 MSX2 VAC14 OBSL1 EVC CLCN7 SCN1B GATA1 SMARCA2 ATP6V1B2 FTO GMNN TCF12 RPS15A DVL3 SMC3 KIF7 RBBP8 TTC21B PAX3 MAF BPNT2 SIN3A BBS5 PGAP2 TMEM216 EIF4A3 KMT2E RLIM DYNC2H1 MKKS RPL11 MECP2 RPS19 KLF13 ALX3 MRPS16 DYM PTCH1 CRKL RUNX2 EIF2AK3 PIGS WDR19 WIPI2 SLURP1 SMARCD1 RPL10 FGFR3 RAB23 RPS10 CNKSR2 DONSON DYNC2LI1 ZBTB20 GRIP1 C12orf57 B3GLCT PPP1CB PIGK GDF6 LZTFL1 EFNB1 RBPJ GNAS STX16 SIK3 SLC25A24 NSUN2 CANT1 TRIP11 MBTPS1 RDH11 TAF1 KCNJ2 DVL1 RPS28 EVC2 FRMPD4 GJA1 CHN1 FLNB BMP2 KMT2D SHOX PSMD12 RRAS BMP4 PRKAR1A SDHB PDGFRB FLNA RIT1 TWIST1 ITGB6 CUL7 MACROH2A1 SMARCC2 RPL5 IGF2 WDR35 CWC27 AIFM1 TBL1XR1 FTSJ1 KNSTRN EDA HCFC1 WDFY3 FBXW11 ZMPSTE24 INPPL1 RERE POC1A ALOX12B BMPR1B TBX3 PGAP3 IL7R POMP PTDSS1 HOXA13 COX4I1 LTBP3 RRAS2 PIGV FZD2 APC MYT1L PIGN RMRP TRMT1 SEC23B ACTL6B SMC1A SRCAP GJA5 TBC1D24 MED13 INTU FAM149B1 ESCO2 COL2A1 COL11A2 KLLN RPL15 PDE6D IFT80 RAI1 SEMA3E TGFBR2 NIN DYRK1A BCR PIK3CD DDX6 KIAA0753 TNNT3 WASHC5 ZMIZ1 SMARCE1 NLRP3 LRP4 SDHD SUFU GHR USP9X PTPN11 NOG MCTP2 EHMT1 TRIO NEPRO CHRNG ACVR1 SMAD4 NEUROD2 KCNN3 CPLANE1 NKX2-5 DYNC2I2 KDSR RIN2 INPP5K CBL NPR2 PTCH2 RPL27 DLL4 CNOT2 SPART RSPRY1 FANCA PCYT1A ZNF81 IFT43 CHST3 GATA6 EXTL3 MYSM1 GPC4 BRCA2 TBX5 TRIM8 PORCN ALOXE3 SOX11 MYMK ARID2 SVBP NKX2-6 CCDC28B TRPV4 NIPBL RPL35A SLC26A2 PRDM16 PIGY RPS7 TFAP2A CEP120 SDHC CTSK CLCN4 ABCA12 ALG13 PRKACB HMGA2 PLXND1 COL11A1 PTCHD1 CHD7 IFT52 FLI1 HDAC4 CASK AFF4 ABCC9 CSPP1 PIGO EDA2R ARX FANCD2 PHF6 TBX1 ANTXR2 MYCN TCTN3 CDKN1C DCPS STAMBP CSNK2A1 PAH TRAPPC4 PIGW FANCE ATP7A MED12 SLX4 FANCI TSR2 MEIS2 IFT140 ZIC1 CHRND BBS4 CPLX1 ADAMTS2 BRIP1 KRAS SETBP1 USF3 HBA2 BCOR FANCC SMARCD2 LSS SOS2 TELO2 DOCK3 SNX14 ALX1 CEP55 RAG2 SPECC1L SLC25A22 NXN ARHGAP31 GATA5 GPX4 COMP SHOC2 ADA LTBP2 NTNG1 TCF20 HESX1 FAM111A ARL6 NFIX MRAS CRIPT BBIP1 CDKL5 MEGF8 PIGB PCNT PAPSS2 MAP2K1 DPF2 LMNB2 GNAS-AS1 PAK3 LETM1 DNMT3A RAG1 BHLHA9 PKDCC CHRNA7 CHST11 AGTR2 SCN2A PGM3 MAPK1 KCNAB2 ERF HBA1 DMXL2 LONP1 IFT57 AHSG TFAP2B FLT4 CAMK2G GJB3 RECQL4 GNAO1 SLC2A1 EXOSC2 ZNF41 KAT6A FGD1 RPS24 KAT6B SOX9 SLC9A7 ACP5 RPL18 CXorf56 NOTCH2 GJB4 ZDHHC9 PIK3C2A GABRD SLC35D1 ADAMTS17 STXBP1 FGF9 PTH1R SMARCB1 CSGALNACT1 RPS6KA3 GLI3 CHSY1 ARSL REV3L LBR ALMS1 SH3PXD2B NRAS RASA2 FLII ARID1B KIF15 PIK3CA PLCB3 PITX1 TANC2 MAGEL2 RPL35 IL2RG RPL31 PTHLH DLG3 UBE2T PNKP ASAH1 KDM5C RAB3GAP2 SNRPN A2ML1 ADAMTS10 MAFB RAF1 SETD5 RPL26 SMARCA4 SKI PPM1D PIGL IFT81 ACSL4 PTEN IRX5 TBX22 DLK1 YY1AP1 JAG1 BBS9 RAC1 TBX15 MIR17HG SIL1 NBAS PPP3CA PIGP RPS17 CUL4B VPS35L SYP PIK3R1 BBS1 CILK1 MID2 FIG4 BGN ZNF711 WAC MEG3 KMT2A RTL1 PNPLA6 TMEM67 GATA4 WASF1 EXT1 SLC35C1 IARS2 HUWE1 NEK1 CTBP1 BPTF TSPAN7 RAB39B MIR140 RHOA FGFRL1 DOCK6 RPS26 ADNP USP27X RPS29 BCORL1 TASP1 PLAG1 POP1 LZTR1 IL1RAPL1 DYNLT2B RPS27 CITED2 WNT4 DCLRE1C HP_ABNORMALITY_OF_THE_SUPERIOR_CEREBELLAR_PEDUNCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUPERIOR_CEREBELLAR_PEDUNCLE INPP5E KIAA0586 TMEM216 LAMA1 CSPP1 CEP290 TMEM67 NPHP1 AHI1 FLI1 HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE INPP5E KIAA0586 TMEM216 LAMA1 CSPP1 TMEM67 NPHP1 AHI1 HP_HYPOPLASTIC_FIFTH_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FIFTH_TOENAIL SOX11 PPP2R5D ARID1B SOX4 SMARCA4 DPF2 HOXA13 SMARCB1 ARID1A SMARCD1 ARID2 SMARCC2 SMARCE1 HP_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_TRACT_INFECTION KDM6A CLIP2 CR2 NODAL SOX4 CXCR4 IL6R AGA COL6A1 CTLA4 MGP RAG2 CFI TCF3 DISP1 RTEL1 CCDC22 ACP5 EPM2A BCL10 CCDC114 KANSL1 CREBBP ZBTB24 MAGEL2 PIK3CD ALOX12B SNRPN SLC29A3 SP110 CCDC103 CD3D TSC2 TGFB1 GSN RSPH9 JAGN1 SIX3 KIAA0586 NDN LRRC6 GAS2L2 FUCA1 SYT2 EP300 STAT3 SCNN1G CYP4F22 IL7R JAK3 EPG5 TBL2 GAS8 NCF2 NFKB2 CHAMP1 SLC35A1 ITGA7 EGFR LCK GLB1 DNAAF6 NELFA UBB POLE IL17RA IKBKB COL6A3 DNAH9 NKX2-1 HERC2 MYOD1 MANBA MYO5A LAMC2 CFTR GAA GUSB LRRC8A NBN LIMK1 PTCH1 DLL1 GRHL3 DNAAF1 SIK1 KIF20A GAS1 IGLL1 CHAT SFTPB GMNN FMO3 MALT1 DCLRE1C NPAP1 RAC2 SNX10 DNMT3B BLM EFEMP2 DKC1 SNORD116-1 SLC18A3 CIITA PTCD3 VAMP1 TNFRSF13C MAGT1 TNNT2 CARD11 WIPF1 GLUL CARMIL2 TBX20 MYPN MKRN3 SNORD115-1 RYR1 MED25 CRKL SHROOM4 RAG1 TDGF1 SLC46A1 PDHA1 COL13A1 RSPH3 SMARCD1 SCNN1A TNFRSF11A SPEF2 PRTN3 CRELD1 RSPH4A TRAIP ERCC2 RFXANK XIAP PEPD DNAAF2 GTF2H5 MYL2 CSF2RB TTC25 TNNI3 TRIP11 OCA2 FGF8 SLC25A24 HLA-DPA1 CYBB LEPR LAMB2 TNFRSF1A AICDA ARID1A IL2RG GLI2 HLA-B TYK2 BLNK TLL1 NECTIN1 KAT6B ELN FLNA CSF2RA CD247 FCN3 COG4 FGFR1 NOP10 ZIC2 SMARCC2 PRPS1 GATA6 KNSTRN CCDC39 CD79A ADA NCF4 DNAI2 INPPL1 NFE2L2 SDR9C7 POLA1 NME8 CLCA4 SRP54 DNAAF4 NKX2-5 RNF113A HLA-DQB1 CD19 DCTN4 CCDC151 FCGR2A STAT1 USP9X SELENON TCIRG1 IL21 PAFAH1B1 CACNA1B POLR2A SFTPC TNFSF11 CCDC65 PGM3 DNAH5 TNFSF12 GTF2IRD1 CD55 ZMYND10 SCN10A DOCK8 TSC1 DNAI1 NFKB1 RFC2 BACH2 ITGA3 CRLF1 HYDIN TAP2 BCR KIF1A CYBC1 ORC6 PLEC KCNJ6 IVNS1ABP COL6A2 WASHC5 TK2 PRKDC SMARCE1 RFX5 DNAH11 CD3E FOXP1 RPGR CYBA PNP IDUA SCN11A EHMT1 CCBE1 ZAP70 GATA2 MBTPS2 CITED2 NEPRO DYNC2I2 SCNN1B NAGLU COL5A1 TPM2 FOXH1 IKZF1 DNAAF5 SPAG1 ADAMTS3 TPP2 SLC25A1 LAMB3 ABCA12 WAS MYSM1 COL11A2 DZIP1L SHH USB1 P4HTM SOX11 TBC1D24 B2M MCIDAS NHLRC1 PLP1 DNAAF3 CD8A CDON SLC26A2 HACD1 DRC1 CD79B SH2D1A IL2RA CD81 COLQ TARS1 UNG ARMC4 COL4A6 CDCA7 TINF2 RSPH1 ELANE LYST PCGF2 TBCD TPM3 STAG2 EFL1 IER3IP1 RNU4ATAC ATM FLI1 PLG TAF1 ADA2 DNAJB13 AFF4 CSPP1 FBLN5 BAZ1B MYO9A LAMTOR2 PEX13 NGLY1 TIMM8A LAMA2 MCM4 WDR19 TGIF1 RANBP2 TAP1 TET2 IFNGR1 BIRC3 IDS SAMD9L UMPS CCNO PLOD1 UNC119 ICOS GFI1 COL5A2 DSG1 LONP1 ARID2 RELB MS4A1 SCN9A ACTA1 ACTC1 ZNHIT3 SLC35C1 MAP3K20 CFAP298 RIPK1 OCRL TFRC PTPRC PSMB8 PTPN22 ABCA3 SMPD1 NEU1 GTF2I SETBP1 SLC25A22 SMARCD2 NEK10 SMC1A CHD7 STXBP2 IGHM PET117 PRKCD PSAP DNAL1 SNAP25 FOXN1 MASP2 RMRP PWAR1 SGSH MPLKIP KRAS GATA4 DNAH1 UBE2A PURA AGRN NR2F2 ALB CTC1 NFIX ALMS1 OFD1 TRAF3IP2 GBA ALOXE3 MTHFD1 RFXAP TTC12 ASAH1 GNPTAB DPF2 TERC SMN1 PMM2 LETM1 IFIH1 POLR3A TAPBP IL6ST MESP2 CTSC TREX1 NFKBIA CTCF MAPK1 ERF KATNIP NOS1 LEP DLL3 RUNX2 NPM1 SGCG NCF1 IRF8 BTK FLNC ALG12 CD27 IL17F MAN2B1 DPM2 CD40LG TBC1D23 NOTCH2 SLC12A6 TNFRSF13B EDARADD LAMA3 LRRC56 SH3KBP1 LTBP3 KPTN UGP2 SMARCB1 EXOSC9 GLI3 CASP8 SULT2B1 FANCF EXTL3 SPINK5 ZNF341 PIK3R1 RASGRP1 ARID1B SBDS AP3D1 TGM1 ELP1 VPS33A MYH6 TERT MECP2 HLA-DQA1 ACADVL GTF2E2 CFAP410 SLC52A3 TBX6 NSD2 PKHD1 TBCE OSTM1 VPS51 STK36 HPS6 DDR2 ECM1 RAB3GAP2 TRIP4 MYH3 PIGN CORO1A NIPAL4 ATP6V0A2 SIM1 SMARCA4 KMT2D SLC5A7 CTPS1 CFB CLEC7A WRAP53 NTRK1 FOXJ1 NHP2 COG6 ALPL CHRM3 ITCH LIG4 RAC1 CFAP300 NIPBL ERCC3 TRPS1 SERPINA1 IL2RB NXN CCDC40 CACNA1C STX1A PYROXD1 PCNT RNF125 NADK2 GALNS NRAS SAMD9 IRAK4 TECPR2 LIPN IL17RC SLC1A4 CFAP221 AP3B1 PANK2 WAC DNAJC21 SDCCAG8 WDR1 CD3G LRBA PARN MDM4 TCTN3 CLCN7 GNS PLCG2 FCGR3A FOXP3 RNF168 PLA2G6 PWRN1 ROR2 MIR140 SREBF1 FAT4 G6PC3 AK2 IL21R ADNP COL4A5 TASP1 MSN HGSNAT HK1 HLA-DPB1 STING1 ARSB HELLS HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION SDCCAG8 TAP1 PLEC SLC35C1 PLCG2 TAPBP TAP2 HP_ACUTE_INFECTIOUS_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_INFECTIOUS_PNEUMONIA SCNN1A CFTR CSF2RA SCNN1B SCNN1G CSF2RB HP_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION_PNEUMONIA PTCD3 KDM6A TDGF1 NODAL CDON HLA-DQB1 ASAH1 DLL1 LONP1 PMM2 DISP1 TGIF1 FOXH1 PTCH1 SIX3 GAS1 EPM2A PAFAH1B1 NADK2 SHH HLA-DQA1 SAMD9 SP110 TBC1D24 NHLRC1 PDHA1 PANK2 KIAA0586 FGF8 CRLF1 NOS1 SMC1A COL4A6 ZIC2 PIK3CD GLI2 STAG2 PLA2G6 SLC25A24 PIGN UBB TAF1 KMT2D COL4A5 AFF4 CSPP1 GRHL3 FGFR1 TIMM8A PURA NFIX NTRK1 KNSTRN GBA HP_RETINAL_PERFORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PERFORATION PRPH2 CTNNB1 HLA-A GUCA1A NDP GUCY2D HP_SUBSTANTIA_NIGRA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSTANTIA_NIGRA_GLIOSIS ATXN8OS SNCAIP ATXN3 FBXO7 ATXN2 MAPT LRRK2 TBP GLUD2 SNCA NR4A2 PRKN ADH1C GBA HP_NON_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_OBSTRUCTIVE_AZOOSPERMIA TEX15 NSMF SPRY4 KISS1R TSPY1 FANCM XRCC2 HS6ST1 SYCP3 NR5A1 CFTR NANOS1 CHD7 TAF4B SOHLH1 MEIOB TDRD9 ANOS1 SYCE1 PROKR2 ZMYND15 WDR11 DUSP6 FGF8 DDX3Y GNRH1 TEX14 TAC3 KLHL10 FGF17 RBMY1A1 PROK2 DAZ3 DAZ4 TACR3 DAZ2 TEX11 KISS1 FGFR1 GNRHR USP9Y DAZ1 HP_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_AZOOSPERMIA TEX15 TEX14 FANCM XRCC2 KLHL10 SYCP3 NR5A1 CFTR NANOS1 TAF4B SOHLH1 MEIOB TDRD9 SYCE1 ZMYND15 TEX11 ADGRG2 HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION SLC7A7 MT-ND4 MT-ND6 SLC25A13 MT-TW OTC MT-TL1 PCK1 MT-ND3 MT-ATP6 MT-ND1 SLC25A15 MT-TV MT-TK MT-ND2 CPS1 MT-ND5 MRM2 HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION AP1B1 AP1S1 TMPRSS6 COG2 CP HP_FEEDING_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES DCPS KDM6A NDUFS4 NODAL CYP11A1 UNC80 PUF60 TRAK1 LYRM4 SOX4 NALCN GNB1 YY1 ARMC9 STT3A PEX5 DLL1 NDUFB3 COL6A1 PRMT7 MAP3K7 SHANK3 PEX12 BCS1L ATXN7 SLC1A2 NFU1 NDUFV1 C12orf4 SPATA5 BICD2 CYP11B2 DISP1 GRIN1 CCDC22 MTOR MMACHC EPM2A B9D1 PSPH PEX6 ARCN1 KANSL1 CREBBP POGZ MAGEL2 TOP3A HDAC8 BMP4 RAC1 SNRPN SEPSECS ARID1A PMPCB TSPYL1 IFT172 NEB DHCR7 ASXL1 GNAI3 SIX3 KATNIP CDT1 ACTL6A KIAA0586 NDN DYNC2I1 SYT2 EP300 SCNN1G PIGP OFD1 BPTF MSX1 AP1S2 PDSS2 EPG5 GABRA2 CHAMP1 DEAF1 ITGA7 WASHC4 PEX26 SLC45A1 GFM2 MEG3 PEX16 GALC SOS1 CLCF1 GP1BB MTO1 CHAT ADNP BRSK2 SETD5 TXN2 UBB TXNL4A COL6A3 HERC2 RAPSN CPLX1 PYCR2 ERCC5 SDHA CARS1 GOT2 GAA BRAF ORC1 NDUFA1 AVPR2 ERCC1 FBXO31 TRAF7 SIM1 CLPB PTCH1 SARS1 RELN GRHL3 MSL3 NHLRC2 SIK1 GRM7 GAS1 FOXG1 UQCRFS1 ALG11 AHI1 NFASC NDUFS2 COG7 CACNA1A PSAT1 NARS2 POLR1B FGF12 DALRD3 GMNN ATAD3A LAGE3 ODC1 NPAP1 CARS2 ACTA1 BLM ZC3H14 YWHAG DMPK GFPT1 SMC3 SNORD116-1 SLC18A3 RAB11A COX10 MED12L STXBP1 NSUN2 CHRNE NKX2-5 PTCD3 KDM5B VAMP1 PIEZO2 CENPT NOVA2 PLAG1 TRPV6 MAMLD1 NDUFAF1 EPRS1 SLC46A1 CISD2 MN1 GMPPA HSPG2 PTPN23 MOCS1 NCAPG2 SIN3A PGAP2 TMEM216 EIF4A3 KMT2E UFM1 COMT HLCS KCNB1 RLIM HRAS FUT8 CDK8 POMT1 MKRN3 HADH SNORD115-1 RYR1 MARS2 ACADS RTL1 FDFT1 DLG1 DLEC1 MED25 MRPS16 TCTN1 AARS1 SERAC1 ENPP1 UGDH TRPM3 GRIN2D SYNGAP1 FLCN TDGF1 PIGS LAMA2 HECW2 PDHA1 COL13A1 UBE3A MAN1B1 COL1A1 SMARCD1 PQBP1 SCNN1A SAMHD1 PEX10 PEX2 ACTB EXOSC3 EDC3 AQP2 MAP2K1 SLC16A2 LMNA B3GLCT BIN1 PRKCSH DCX CHRNA1 NONO DNM1L NUS1 UBE3B SNX10 MMAA EXOSC8 MYL2 KIRREL3 OCA2 HMGA2 FGF8 CEP120 SLC25A24 NDUFB11 ST3GAL3 ATP7A NDUFB8 NSD1 RNF6 RNASEH2A EEF1A2 LAMB2 LHX3 SCN3A ASNS KMT2D PSMD12 SET RSRC1 GLI2 RRAS DLD DLK1 PIBF1 PPP2R1A CDON KAT6B CIC GLRX5 LIFR STAG1 SPOP RIT1 GABRA5 COG4 FGFR1 MYPN SRPX2 WDR19 ACTL6B ZIC2 HNRNPK DCHS1 SMARCC2 COQ9 TPM2 WAC TBCK IGF2 TRMU ATP6V0A2 HCCS CWC27 LRP4 TBL1XR1 EMG1 KNSTRN CLDN16 SHH WDFY3 ASXL2 TSEN2 RERE TMCO1 COL7A1 RRM2B NDUFA11 PEX11B TET3 SURF1 PGAP3 NTRK2 ERCC6 MBOAT7 SYNJ1 RRAS2 CAVIN1 PIGV TIMMDC1 GCDH FLNA USP9X ABCD1 MYT1L NDUFS6 CLIP1 UFD1 KIF1A PHOX2B FLAD1 GDNF DDC POMK SUZ12 TPM3 TRMT1 MBD5 GABRB2 TUBB6 PAFAH1B1 KAT8 RAI1 NDST1 FARSA SRCAP ANKRD11 POLR2A FUS KDM3B ITCH MED23 ZNF462 ASH1L HIBCH MED13 FOXP2 SLC5A7 FAM149B1 SZT2 CRBN AIFM1 PNPO COQ2 CSNK2B DHDDS TRRAP MTHFR ANK1 DPYS TGFB1 PDE6D IFT80 AHDC1 SEMA3E DST NLRC4 ORC4 DYRK1A PPP3CA PMM2 ORC6 PIK3CD HSD3B2 ALG14 DDX6 LIPT2 OPA1 RNF13 KIAA0753 COL6A2 WASHC5 TK2 ZMIZ1 SMARCE1 TCTN2 HCN1 CDK19 SON FOXP1 CNOT3 DLX4 EXT2 PTPN11 FGFR2 AGTPBP1 NAGS ABCD4 TP63 SSR4 PET100 SCN4A TSEN54 LINGO1 IDUA EZH2 STRADA IRF6 RFT1 CEP41 SARS2 SHOC2 SETD2 CDK13 METTL23 MBTPS2 TRIO DHX30 NEPRO EPB41L1 NDUFS3 CFL2 TRAPPC4 PURA SATB2 CASR SUCLG1 KCNK9 JMJD1C CBL TMEM237 FOXH1 TLK2 NDUFV2 CPLANE1 PROP1 PPP2CA NRXN1 CNOT2 GMPPB DYNC2I2 SLC25A1 CRLF1 SDHD CC2D1A ATRX KRAS GPT2 TBCD COL11A2 RHBDF2 SRP54 COLQ DZIP1L MYH7 MIPEP ATP10A NECTIN1 FBN1 HBB PIGQ PLAA SOX11 TBC1D24 MMAB NDUFS1 MMUT CAMK2B SVBP CHRND KRT17 NDUFS8 ACTG1 NHLRC1 SH3BP2 MOGS ZC4H2 NIPBL KRT16 GALK1 KBTBD13 BCKDHA HACD1 PRDM16 PIGY GRIA4 CLCN4 PLP1 ADAT3 COL4A6 ASPA NDUFB9 PCGF2 AIMP1 SLC13A5 MYH3 PLXND1 PHGDH COX7B NPHP1 KDM1A STAG2 RET ALDH6A1 NDUFAF4 NDUFS7 CHD7 ARVCF IER3IP1 GATA6 PLA2G6 FLI1 CYFIP2 IBA57 COX8A CDC6 TRAPPC9 ADA2 TOR1A KLHL40 CPT2 SYT1 TSEN34 AFF4 STAC3 TALDO1 FARS2 CSPP1 PIGO MKS1 CDC45 MYO9A SMC1A H19 PHF6 EDN3 PEX13 PRKD1 WFS1 HS6ST2 ANTXR2 KLHL41 TGIF1 RMND1 CDKN1C FKRP PIGU KLHL7 CSNK2A1 GATAD2B IQSEC1 ARV1 HSPD1 PIGW IFIH1 RAC3 HTT NEXMIF SLC25A15 TBX1 SCYL2 LONP1 TP53RK GABRG2 KCNQ2 ARID2 PRPS1 FARSB FCSK KMT2A IFT140 HNRNPH2 SLC16A1 ACTN2 NDUFAF2 ZNHIT3 TSEN15 MLXIPL ARX MCCC2 CYP11B1 MAP3K20 ZMYND11 NTNG1 NECAP1 FBXW11 OCRL SEC24C TAOK1 GBA SMPD1 SCN8A MPDU1 SETBP1 LHX4 NDUFB10 WARS2 DHFR FRRS1L BCOR SLC25A22 MTR MT-ND2 KRT14 ASCL1 NACC1 CLTCL1 CRADD RAB3GAP1 TTC21B WWOX SOS2 SLC7A7 TELO2 PDE10A OTUD6B MCCC1 DOCK3 TMEM67 AUTS2 ARSA LHX1 INPP5E GFM1 TRAPPC11 SELENON SNAP25 SDHAF1 HADHB UFC1 WDR26 HIKESHI PWAR1 KRT5 MT-ND3 C2CD3 GRIK2 ASL NDUFAF3 MICOS13 TCF20 SIGMAR1 CCDC47 C12orf65 CDH15 KCNA2 AGRN SNIP1 ACSF3 RNASEH1 EFTUD2 SCO1 TSHR PEX3 HIVEP2 MRAS NDUFA6 RPS28 DOCK8 COQ7 UBTF CEP104 ARHGAP29 TRAF3IP2 PEX14 RAB11B SMARCA4 TREX1 RPGRIP1L RECQL4 MED17 PLCB4 USP7 PIGB DYNC2H1 DPF2 NFIX CTNS CLTC FOXRED1 ALDH18A1 ASXL3 COG5 MECP2 POLR3A SETD1A MTRR EED PSAP ALS2 WDR73 EHMT1 TMEM126B LARGE1 ITPA UBA5 PNPT1 DYNC1H1 PTS RETREG1 TRIP4 COLEC10 DYNC2LI1 PGAP1 POLG2 VRK1 HOXB1 SLC5A6 CTCF KCNAB2 CPT1A POLE NUBPL SCNN1B BTD LMAN2L TRHR SLC52A1 GNPTAB HSD17B4 YIF1B ST3GAL5 GRIN2B KCNQ5 ATP6V1A CAMK2A CASK SLC12A2 POMT2 NDUFAF8 KAT6A HTRA2 ERCC8 ABCC6 ALG12 BCKDHB SLC35A2 HESX1 GABBR2 SLC9A6 IL17F FOXE1 PAX8 STT3B ADGRG1 DPM2 RALGAPA1 MED12 CNKSR2 GALT NR3C2 CDKL5 PIGG GABRD PBX1 DBT SLC25A19 TECR ADARB1 ATP6V1E1 PARS2 SDHB UGP2 KIF5A TCTN3 DNM1 RAD21 PIGC SMARCB1 CNTN1 TSFM KRT6A SCN9A EXOSC9 PACS1 MTM1 RPS6KA3 TCF4 SLC6A3 REV3L NKX2-1 NRAS RASA2 SH2B1 MYMK CTBP1 FLII ARID1B AP3D1 KIF15 ELP1 KIF7 RAB3GAP2 GTPBP3 ACADVL MRPS34 HADHA LIAS ZSWIM6 VPS13B SCO2 RREB1 PKHD1 MOCS2 TANC2 CACNG2 PRSS12 HIRA TRMT10C ZNF148 VPS51 GSC MT-ND1 MEF2C ASAH1 MTHFS SNRPB TSHB SPTBN4 FMN2 A2ML1 TIMM22 RAF1 SOX5 NSMCE3 PIGN TH ARL13B TRAPPC12 FAT4 SKI ISCA1 GLE1 LMOD3 BRAT1 BCL11B PPM1D CA12 POLA1 NDUFAF5 THOC2 PIGL CDH1 ANAPC1 CNP POU1F1 IQSEC2 EDN1 TGFBR2 AIMP2 CLEC7A PCCA MT-TE NTRK1 DHCR24 TUBB3 PRDX1 HYLS1 MAP2K2 MYH8 COX6B1 HNF1B CC2D2A WNK1 PIGT SLC6A8 CHRNB1 PREPL GPHN PEX19 HNMT SLC26A4 PANK2 DGUOK IARS1 MDH2 B3GALNT2 BUB1B BRPF1 TUSC3 APC2 IL17RC SLC1A4 LMBRD1 SUCLA2 TNIK EZR AP3B2 TMEM106B MRPL3 DEGS1 CCDC88A LINS1 UQCC3 MFF WASF1 NUP214 GSX2 IL17RA GALNT2 FOXP3 PWRN1 HPCA ARL3 RARS2 ELN CACNA1B COL4A5 SPG11 BCORL1 SEC63 TASP1 HK1 LZTR1 CUX1 PI4KA ERCC2 TANGO2 PEX1 LRP5 KRT6B PCCB HP_CEREBRAL_AMYLOID_ANGIOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_AMYLOID_ANGIOPATHY ITM2B APP APOE CST3 PSEN2 HP_HYPOGLYCORRHACHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCORRHACHIA TBK1 UNC93B1 SLC2A1 TICAM1 TLR3 TRAF3 HP_MYELOFIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOFIBROSIS MPIG6B TET2 MPL TP53 JAK2 TBXAS1 CALR NBEAL2 GFI1B SRC SH2B3 HP_ACHOLIC_STOOLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHOLIC_STOOLS HSD3B7 PTPN3 CYP7B1 GPC1 RFX6 HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY LYST RAC2 SLC35C1 NCF2 NCF1 SBDS CYBA GPI CYBC1 CEBPE CYBB EFL1 PMM2 DNAJC21 SRP54 HP_ABNORMAL_NEUTROPHIL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEUTROPHIL_COUNT LYST UNC93B1 STAT1 GFI1 SRP54 SLC37A4 NPM1 SBDS STK4 FANCE RNF113A CXCR4 TERC ZBTB16 LAMTOR2 TONSL CD79A RMRP STAT5B FANCI TSR2 FAS TCF3 PIK3R1 STAT3 RPS17 MMACHC ACP5 AP3D1 SLC35C1 ICOS RPL18 RAB27A PGM3 ITCH TFRC ATRX GTF2E2 TDP2 OTULIN RPS19 PML ADA2 JAGN1 VPS13B HAX1 DNAJC21 BCOR CD79B RPL35 RPL15 PRKCD FANCC SLC35A1 SMARCD2 RPL31 FIBP TBL1XR1 AGA IGHM FDX2 MECOM IL7R IRAK4 SEC61A1 GSS RARA CASP10 GATA1 RFX5 PACS2 TBK1 RPL26 LBR TCN2 ABCD4 COG4 PNP CIITA FASLG LRRC8A CLPB MPLKIP ANAPC1 GATA2 EFL1 KRAS RASGRP1 SF3B1 TET2 UBE2A STX11 SMARCAL1 FMO3 RPS7 PCCA RAG1 RPS15A PRDX1 RPL27 SAMD9 RECQL4 RFXAP MMUT VPS45 SLC46A1 ERCC3 FANCA MVK MEFV NABP1 WAS WIPF1 EIF2AK3 RFXANK GINS1 MYSM1 FUT8 MTRR USB1 RPL11 BLNK NRAS PRKAR1A MMAB ELANE SAMD9L LMBRD1 AP3B1 IL36RN RPL35A TRAF3 RPS10 WDR1 FBXL4 LRBA SH2D1A IFNG TERT TLR3 ERCC2 XIAP TAZ TARS1 MDM4 CSF3R GTF2H5 TICAM1 MMAA BTK FOXP3 IL1RN HTRA2 RPS24 RAC2 G6PC3 RPS26 RPS28 NUMA1 IGLL1 CD40LG RPS29 FIP1L1 CD40 FANCD2 MSN RPL5 MAD2L2 PRF1 RPS27 ETV6 PCCB IRF2BP2 TFR2 TCIRG1 FANCG HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY LYST SF3B1 TET2 CEBPE LBR MYH9 SMARCD2 FTCD CXCR4 RPS14 HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY LYST CYBC1 CEBPE CYBB RAC2 NCF2 NCF1 CYBA GPI HP_POSTPRANDIAL_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTPRANDIAL_HYPERGLYCEMIA INSR SHPK SLC2A2 KCNE3 CACNA1S SCN4A GABRA3 KCNJ18 GYS2 HP_PARANOIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARANOIA PRDM8 DGCR8 TBP DMPK CPOX TBX1 HMBS ECM1 VPS13A TIMM8A DGCR6 ESS2 DGCR2 PLA2G6 IMPA1 PPOX SNCA HP_LENS_LUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_LUXATION MOCS1 COL11A1 PAX2 COL2A1 C12orf57 MOCS2 HP_RIGHT_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_AORTIC_ARCH GDF1 DGCR8 TMEM260 TBX1 DNAH1 MMP21 ACVR2B WDR26 STRA6 FLT4 DGCR6 ESS2 DGCR2 CRELD1 HP_HYPERGALACTOSEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGALACTOSEMIA GALT GALM GALE GALK1 SLC25A13 HP_HEPATOCELLULAR_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_ADENOMA APPL1 GCK GNAS HNF1A INS PDX1 KLF11 KCNJ11 PAX4 PRKAR1A PHKG2 ABCC8 PHKA2 BLK CEL NEUROD1 HNF4A HP_ABNORMAL_URINE_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_HORMONE_LEVEL CDKN1B PRKAR1A ARMC5 NR3C1 TP53 HP_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOMA RPL10 SDHB CCL2 APC PIK3CA FUZ VANGL2 PTEN USF3 CDC73 FGFR1 KLLN SDHD TAF1 AKT1 VANGL1 TBXT SDHC SEC23B ALX3 MSTO1 ZSWIM6 HP_CORNEAL_STROMAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_STROMAL_EDEMA COL8A2 GRHL2 VSX1 OVOL2 ZEB1 HP_DECREASED_FERTILITY_IN_MALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_MALES NME8 DNAAF5 SPAG1 DNAH17 RPGR CFAP300 AMH CATSPER2 CYP19A1 DNAH5 NR5A1 CATSPER1 RSPH4A FANCA TTC12 MAP2K1 CCDC151 FCGR2A ALMS1 BRCA1 CYP17A1 FANCD2 CCDC40 DNAH2 LHCGR HYDIN STRC RBMY1A1 DZIP1 CDH23 SLX4 M1AP CCDC114 CTNS CFAP65 BRIP1 CYP11B1 DAZ2 FANCB LRRC56 PPP2R3C TSPY1 SPATA16 CCDC103 ZFPM2 ZMYND10 SRY CFAP221 FANCM CCNO DNAAF6 CFTR DNAI1 SPEF2 POR DHX37 CFAP298 PALB2 LRRC6 AMHR2 DRC1 ARMC2 PMFBP1 ERCC4 STK36 RSPH9 NR0B1 NEK10 XRCC2 CCDC65 VAMP7 DNAAF4 DMRT3 FANCF DNAAF2 SUN5 WT1 RSPH1 GAS2L2 HSD3B2 GAS8 SOX9 FANCI TTC25 GCM2 BRCA2 AIP ARMC4 ADGRG2 DNAL1 GATA4 DNAH11 TGFB1 MEN1 DNAH9 CFAP58 PTPN11 FANCC AURKC RAD51C CYB5A DAZ3 DNAJB13 BRAF DNAI2 USP9Y DAZ1 TEX11 DNAH8 GALT CEP112 DNAAF1 FANCL FANCE DNAH1 UBE2T RFWD3 MCIDAS FANCG CFAP70 DDX3Y TTC29 MAD2L2 MNS1 FOXJ1 OFD1 CCDC39 RSPH3 BLM RAD51 DAZ4 MAP3K1 DNAAF3 WWOX HP_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENDULAR_NYSTAGMUS CRX CNGB3 HMGB3 AIPL1 P4HTM PDE6C ADAR FRMD7 CRB1 LRP5 PDE6H NT5C2 ATF6 OPN1LW RPGR SCN1A RPGRIP1 PLA2G6 CACNA1A GNAT2 OPN1MW PRRT2 TMEM231 ATOH7 TBL1XR1 OPN1SW MT-ATP6 CARS1 CLTCL1 PLP1 NUP62 TMEM63A CNGA3 DNMBP ATP1A2 TENM3 HP_SEESAW_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEESAW_NYSTAGMUS SCN1A CLTCL1 PRRT2 TMEM231 CACNA1A ATP1A2 HP_RETINAL_FLECKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FLECKS BEST1 RLBP1 RIMS1 ZFYVE26 RHO RDH5 PROM1 PRPH2 HP_HEMERALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMERALOPIA CEP78 CNGA3 SAG GUCY2D NYX GRM6 NR2E3 ATXN7 HP_OROMANDIBULAR_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMANDIBULAR_DYSTONIA KMT2B C19orf12 ANO3 THAP1 PANK2 SLC39A14 COASY VPS13A COL6A3 ALS2 SIGMAR1 ATN1 SPG11 TIMM8A FUS HP_LARYNGEAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_DYSTONIA KMT2B STX16 GNAS THAP1 PRKRA TUBB4A GNAL VPS13A COL6A3 KCTD17 FTL HP_LOW_SERUM_CALCITRIOL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SERUM_CALCITRIOL CYP2R1 LRP5 CYP27B1 DMP1 ENPP1 CYP3A4 HP_CUTANEOUS_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_MELANOMA MITF CDKN2A MC1R BRAF BAP1 MMP1 HRAS NRAS ERCC3 CXCR4 POLH CDK4 COL7A1 XPC OCA2 WRN HP_BONE_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_CYST SDHB TYROBP GNAS FOS PPARG CAV1 HLA-DRB1 SH3BP2 PDGFRB VDR CAVIN1 USF3 TREM2 ZBTB20 PTEN KLLN SDHD BTNL2 BSCL2 FGFR1 AKT1 NF1 SDHC SEC23B AGPAT2 NOTCH3 KRAS PIK3CA HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION ACAD9 TANGO2 ACAD8 ACADS CPT2 SLC25A20 MMACHC HADH LMBRD1 SLC52A1 HP_PERSONALITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_DISORDER SPG21 KCNT1 XK MAPK10 CBS CHD2 KCTD17 GABRB3 TOR1A RORA DNM1 SCN1A SGCE WAC CUX2 DRD2 HP_ENLARGED_CEREBELLUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_CEREBELLUM KDM1A FGFR3 ZEB2 PTEN HRAS HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE DPM3 ACTA1 CCDC174 KLHL41 VCP ANO5 TTN TRIP4 LRP12 SELENON LMNA COL12A1 TWNK COL6A1 COL6A2 POLG CAV3 FHL1 ASCC1 TPM3 TRIM32 PPARG GNE SGCB NEB COL6A3 STIM1 TPM2 STAC3 ACTN2 DNAJB6 CASQ1 MYH7 LMOD3 CRYAB HNRNPA2B1 LAMA2 MYPN POMT1 SQSTM1 AIFM1 CFL2 SGCG KBTBD13 DYSF MSTO1 MYOT ORAI1 GIPC1 NEFH OPA1 RYR1 GARS1 HPDL MYH14 TCAP MICU1 POPDC3 HNRNPA1 ITGA7 NDUFA4 HP_ABNORMAL_PANCREAS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_MORPHOLOGY SPINK1 PKHD1 HNF1B TMEM216 CFTR RFX6 STAT3 EIF2AK3 TMEM231 HNF1A INS RPGRIP1 SBDS KLF11 FOXF1 CPA1 PAX4 ABCC8 DZIP1L PRSS2 OFD1 CEP55 DIS3L2 SLC29A3 CC2D2A NPHP3 GCK PDX1 GLIS3 ENPP1 TCTN2 IGF2 CTRC PRSS1 SETBP1 ASXL1 CEL DNAJC21 HNF4A B9D2 KCNAB2 PRDM16 WDR19 RERE B9D1 RECQL4 SIK3 TMEM107 TELO2 CCND1 PKD1 LHX1 NEK1 ABCC6 EFL1 GATA6 WDPCP CASR XPNPEP3 FLI1 TMEM67 KCNJ11 CNOT1 BICC1 MKS1 PTRH2 RPGRIP1L CSPP1 SKI SRP54 DYNC2I1 APPL1 GANAB GABRD FANCD2 VHL PTF1A FLNB KCNQ1 KCNQ1OT1 MYCN STRA6 NEUROD1 RARB CDKN1C CEP290 PKD2 BLK CP RBM8A HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY CLCA4 SLC37A4 UBR1 SBDS PUF60 CDKN1A HNF1B DCTN4 FCGR2A ALMS1 CFTR STAT3 CDKN1B HNF1A BSCL2 MT-ND1 ABCC8 HNF4A CTNS TKFC PRSS2 ACTG2 STAT4 GNAS PDX1 IL23R HAMP CTRC CDKN2A IL10 FAS PRSS1 DNAJC21 COX4I2 SLC25A13 ARX MT-CO1 PALLD MEN1 MAFA MT-TS2 CDC73 GPC3 SLC7A7 MT-ND5 G6PC GPC4 FLI1 TGFB1 CASR KCNJ11 MT-ND6 UBAC2 PTRH2 SRP54 INSR APPL1 FAH EFL1 GCK MT-TL1 IL12A CYBC1 MT-TH NEUROD1 LBR IL12A-AS1 LMNA PCCA BRCA2 C4A APOC2 IFT172 IKZF1 SPINK1 MST1 TP53 MMUT SLC16A1 EIF2AK3 CEL CDKN2C GNA11 PALB2 INS KLF11 STX1A CPA1 PAX4 MADD CCR1 MT-TF OFD1 STUB1 NADK2 JAG1 DIS3L2 CDKN2B MT-CO3 CIDEC MT-TQ BCKDHA PRTN3 ATP8B1 CBS GPR35 ERAP1 TLR4 BRCA1 KRAS NDUFS3 UCP2 BCKDHB GATA6 HLA-DPA1 PPARG XPNPEP3 NSMCE2 HMGCL CAV1 AGPAT2 CTLA4 HLA-B ABCB4 MEFV KLRC4 MT-TW DBT APOE HLA-DPB1 PTPN22 VHL MT-ND4 LPL PNPLA2 HJV AP2S1 SMAD4 PCCB TCF4 BLK MT-CO2 HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY CLCA4 TP53 UBR1 SBDS PUF60 BRCA1 KRAS HNF1B DCTN4 EFL1 FCGR2A CFTR GATA6 EIF2AK3 TGFB1 CEL HNF1A PALB2 INS KLF11 STX1A PAX4 MADD PTRH2 SRP54 CTNS ABCC8 OFD1 STAT3 JAG1 APPL1 GCK SPINK1 PDX1 CTRC CDKN2A PRSS2 KCNJ11 PRSS1 DNAJC21 NEUROD1 HNF4A COX4I2 ARX PALLD BRCA2 SMAD4 BLK HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY INSR FAH PDX1 CDKN1B DIS3L2 EIF2AK3 CDKN1A GPC3 GCK CDKN2B HAMP ABCC8 GPC4 MEN1 UCP2 VHL SLC16A1 STAT3 KCNJ11 CDKN2C LBR HNF1B HJV HNF1A MAFA HNF4A INS PAX4 HP_ABNORMAL_PANCREAS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_SIZE APPL1 SLC29A3 GCK PDX1 GLIS3 IGF2 HNF1B PTF1A KCNJ11 KCNQ1 KCNQ1OT1 LHX1 STRA6 EFL1 GATA6 CEL NEUROD1 DNAJC21 HNF4A RFX6 STAT3 RARB CDKN1C EIF2AK3 HNF1A INS CNOT1 SBDS KLF11 PAX4 ABCC8 PTRH2 BLK SRP54 HP_MULTIPLE_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_JOINT_DISLOCATION CHST3 RNU4ATAC EXOC6B B3GAT3 B3GALT6 HP_EDEMA_OF_THE_DORSUM_OF_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EDEMA_OF_THE_DORSUM_OF_FEET TGM1 ZNHIT3 PLAA RBM8A RNF13 HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION THBD DBH ELP1 GANAB PKD1 TMEM260 CD46 HPRT1 HBB GALNT2 C3 MUC1 HNF1B CORIN TREX1 INVS CFH NT5E FAN1 ADAMTS13 CTNS CFHR1 PKD2 CCND1 WDR19 CFB BICC1 COQ7 STOX1 FLT1 CFI CFHR3 AVPR2 HP_ABNORMAL_MITOCHONDRIAL_NUMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_NUMBER DNA2 PET117 MGME1 GYG1 CHCHD10 HP_ABNORMALITY_OF_THE_MITOCHONDRION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MITOCHONDRION NDUFA11 NDUFS4 NDUFA4 ATP5F1E PDHX SQSTM1 NDUFA13 COX6A2 FDXR PEX5 ACADM COX4I1 NADK2 TMEM70 TIMMDC1 NFU1 TXN2 NDUFV1 CARS2 NDUFS6 FUS MT-ND1 HIBCH VCP CTNS TK2 PREPL NDUFA10 DNMT1 SLC25A10 PET100 ETFB MRM2 PPM1B NDUFB10 ACAD8 MT-CO1 MT-ND2 NDUFA12 TRMT5 MRPS25 MYH7 MT-TS2 PDHA1 SLC3A1 TYMP MT-ND5 TIMM22 PET117 COX5A CAMKMT TBK1 TIMM50 NDUFAF2 CHCHD10 SLC34A1 NDUFAF6 CPT2 MT-ND6 GTPBP3 ECHS1 GATC NDUFA1 POLG2 MT-ND3 ACAD9 MT-ND4 NDUFAF5 GYG1 BOLA3 HADHA NDUFAF3 MT-TL1 MGME1 NDUFS3 CYBB NDUFS8 MT-TH POLG NDUFB11 NDUFS1 HSD17B10 NDUFB3 SLC22A5 SUCLG1 SCO1 LIPT1 MT-TE NDUFA6 NEB NDUFA9 NDUFV2 GFER ETFA PTCD3 HMGCL SURF1 PDHB NDUFAF1 CYBA EARS2 SLC25A3 MT-CO3 FXN IBA57 GLRX5 MRPS14 FOXRED1 SLC25A20 RRM2B HADH MT-ND4L MT-TF TMEM126B DGUOK TWNK MT-TL2 SLC39A8 PNPT1 ETFDH MIEF2 MTFMT NDUFS2 DLAT COA8 SUCLA2 MT-TQ COA3 TACO1 FBXL4 PDP1 MRPS23 DNA2 NUBPL TAZ COX15 MFF DNM1L COX20 TARDBP NDUFB9 NDUFS7 NDUFAF8 SPG7 NDUFAF4 GATM COL7A1 TTN MT-TN ISCU SLC19A3 SLC25A26 MT-CYB AK2 SDHA QRSL1 MMP1 MT-TW MRPL12 C9orf72 MT-ATP6 TRMU DLD ACADVL MYH14 EHHADH TSFM MT-CO2 GNE NDUFA2 SLC25A4 AFG3L2 HP_PARIETAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_CORTICAL_ATROPHY NDN MAGEL2 SNRPN OCA2 SACS SCYL2 STUB1 HP_OCCIPITAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_CORTICAL_ATROPHY NDN MAGEL2 SNRPN OCA2 DOCK7 HP_INCREASED_FIBULAR_DIAMETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_FIBULAR_DIAMETER SLC35D1 INPPL1 GPC6 LMBR1 SHH HP_OPEN_ANGLE_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_ANGLE_GLAUCOMA ASB10 WDR36 CYP1B1 MYOC OPTN NTF4 HP_HYPOPLASIA_OF_THE_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PONS ATXN8OS BRF1 PMM2 EPG5 FKRP ADGRG1 FGF8 WNT1 SNX14 DLL1 ARHGEF2 FOXH1 DOCK7 TSEN54 POMGNT1 GMPPB ZIC1 APC2 PTCH1 GPHN POMK ASNS MDH1 TRAPPC12 DISP1 STUB1 TOE1 NODAL RELN TUBB2B PPP2R1A CDON B3GALNT2 TGIF1 POGZ VRK1 UBE2A AHCY SLC5A6 RTTN ZIC2 ATXN2 SIX3 POMT2 TDGF1 POMT1 LARGE1 ROBO3 SHH PCLO RERE VPS51 GAS1 GLI2 MAB21L1 HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL ARMC5 TRAF7 CYP11A1 CDKN1B TERT HSD3B2 CDKN1A PRKAR1A NF2 MEN1 GLI3 SMARCE1 AIRE PDGFB STAR CYP11B2 HSD11B2 NR0B1 CYP17A1 CDKN2C KCNJ11 ABCD1 TXNRD2 TBX19 AAAS CYB5A GATC CYP11B1 QRSL1 PRKACA PCSK1 MRAP GNAS NR3C1 AKT1 CDKN2B ABCC8 POR NNT BAP1 MC2R SUFU HTR1A PDE11A PIK3CA GATB NFKB2 TP53 PDE8B SMARCB1 RET SMO HP_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATITIS VPS33B CIITA STAT1 MST1 IL12A ITCH CYP7A1 RFXAP ATP7A AXIN1 TPP2 SLC25A15 ALMS1 RFXANK ATP7B FAS SPIB TCF3 VIPAS39 PIK3CA KRT8 COG8 APC TP53 RFX5 MMEL1 BLNK GNAS GLIS3 TBX19 CD3D IL17RC CD247 IL18BP PIEZO1 CASP8 CD79B PRKCD XIAP SH2D1A MET TTC7A GPR35 IL12RB1 KRT18 C4B IL17RA IGF2R IGHM BTK SERPINA1 FOXP3 CASP10 POU2AF1 CD3E HBB ACP5 IL17F C1S IL21R IGLL1 CD40LG GUSB LRRC8A SHPK IRF5 TNPO3 TNFSF15 RASGRP1 AIRE PGM1 CYP7B1 PIK3R1 PDGFRL CLEC7A CTNNB1 AMACR CD79A HSD3B7 TCF4 SKIV2L TRAF3IP2 COG6 FASLG HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION MST1 IL12A PMM2 PDSS2 TDP1 NPHS1 FN1 FOXP3 ARHGDIA OSGEP FARSB POU2AF1 TTC37 SPIB TFAM NUP133 ACTN4 TET2 ALG8 APTX VPS33A TKFC PET100 MMEL1 WDR73 SGPL1 NUP107 PIK3R5 DGUOK FARSA SAR1B PRF1 IRF5 TNPO3 TNFSF15 B2M BMPR1A CD55 PTPRO SMAD4 COQ2 AHCY PLCE1 SLC25A13 MPI CCBE1 MAGI2 ALB MYO1E PLVAP MTTP ITGA3 IFNGR1 PTEN COQ8B SETX TCF4 GPR35 IL12RB1 NPHS2 WDR4 NLRC4 COL7A1 DGAT1 HP_METHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDURIA SUCLG1 MLYCD MCEE MMAB MMACHC CD320 MMAA LMBRD1 TCN2 ABCD4 SUCLA2 MMADHC HCFC1 PRDX1 ACSF3 MMUT HP_ANTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_UVEITIS NOD2 CD247 TNFAIP3 IL6 HLA-DRB1 IL2RB AIRE HLA-B PTPN22 STUB1 PTPN2 MIF LACC1 STAT4 IL2RA ANKRD55 HP_POSTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_UVEITIS NOD2 BIRC3 FOXP1 BCL10 MALT1 HP_STOMACH_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMACH_CANCER MSH3 BUB3 TP53 CHEK2 BUB1B MDM2 RPS20 SEMA4A BMPR1A TRIP13 CEP57 PRKAR1A STK11 BLM CDKN2A KRAS CDH1 BUB1 IL1B IL1RN HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS KLF1 RPS15A RPL35A SF3B1 PUS1 CBLIF TET2 ADA2 RPS24 GATA1 RPL5 RPS10 RPS14 TSR2 RPL26 HBB RPL35 RPL15 EPO RPS7 G6PC3 RPS26 RPS28 RPS17 RPL31 RPS27 ERBB3 LPIN2 RPL11 PNP TP53 CDAN1 RPS19 RPL18 GLRX5 RPS29 CDIN1 RPL27 HP_ERYTHROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPERPLASIA LPIN2 HBB SF3B1 CDAN1 TET2 PUS1 CBLIF KLF1 GLRX5 ERBB3 CDIN1 HP_ERYTHROID_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPOPLASIA RPS15A RPL35A TET2 ADA2 RPS24 GATA1 RPL5 RPS10 RPS14 TSR2 RPL26 RPL35 RPL15 RPS7 G6PC3 RPS26 RPS28 RPS17 RPL31 RPS27 RPL11 RPS19 RPL18 RPS29 RPL27 HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY NUMA1 SF3B1 TET2 RPL18 CXCR4 GATA1 RARA HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY GATA1 TP53 GNA14 TET2 SLC35A1 GP1BA UBA1 SF3B1 GP9 MPL JAK2 RFWD3 SH2B3 RPS14 CALR MYSM1 GP1BB HOXA11 SAMD9 HP_ABNORMAL_MONOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MONOCYTE_MORPHOLOGY NRAS SRP54 RAC2 G6PC3 DDX41 GFI1 ELANE WAS KRAS TCIRG1 GATA2 HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR GP1BA IKZF5 GP9 NBEAL2 ITGB3 VWF ITGA2B GP1BB F8 HP_HYPOTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTRIGLYCERIDEMIA CETP APOC3 MTTP NGLY1 ANGPTL3 SAR1B GALNT2 HP_HEMOPHAGOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPHAGOCYTOSIS LYST SLC7A7 STX11 PRF1 CD27 XIAP SH2D1A STXBP2 UNC13D RAB27A HAVCR2 HP_SUBCORTICAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_CEREBRAL_ATROPHY MAN2B1 USH1G SHPK MYO7A HNF1B MBTPS2 ACTG1 POGZ LHX1 USH1C CIB2 ADGRV1 ACTB GCDH WHRN PANK2 PDZD7 USH2A MYO5A FGFR1 EHMT1 KRAS PCDH15 CDH23 ESPN TCTN3 HP_ASTERIXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTERIXIS ABCB4 ATP8B1 SLC25A13 NR1H4 ABCB11 HP_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODACTYLY TP63 WNT7A HDAC8 SEM1 GLI3 DLL4 MBTPS2 DLX6 WNT10B NIPBL CYP26B1 BHLHA9 DLX5 SF3B4 DONSON BTRC SMC1A SETD5 ESCO2 APC CHD7 LRP4 KMT2A EPS15L1 SMOC1 RAD21 SEMA3E SMC3 PORCN RECQL4 HOXD13 HP_SKIN_PICKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PICKING MAGEL2 NDN SNRPN SIM1 OCA2 USP7 SLC6A4 KMT2E HTR2A HP_HEAD_BANGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_BANGING MAPK1 RAI1 SVBP SNRPN VPS13A HP_STEREOTYPICAL_HAND_WRINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPICAL_HAND_WRINGING IQSEC2 STXBP1 GABBR2 LARP7 CDKL5 GRIN2A VAMP2 MECP2 GRIA2 NACC1 FOXG1 DYRK1A NTNG1 HP_GLIOBLASTOMA_MULTIFORME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOBLASTOMA_MULTIFORME MLH3 APC FAN1 PIK3CA BRCA2 RPS20 MSH2 MLH1 CDKN2A PMS1 TGFBR2 PMS2 MSH6 KRAS TP53 ERBB2 MDM2 SEMA4A BMPR1A CHEK2 EPCAM IDH1 HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY JAK3 RAG1 RAG2 IL2RG LYST PIK3CD SP110 CD70 KNSTRN DNMT3B AP3B1 PGM3 GATA2 NLRC4 HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY IL2RG UNC13D PRF1 PRKCD XIAP AP3B1 IKBKG SH2D1A STXBP2 NLRC4 WIPF1 HP_ENTRAPMENT_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTRAPMENT_NEUROPATHY IDS IDUA GNAS GSN GNPTAB TTR ARSB SH3TC2 HP_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HODGKIN_LYMPHOMA PGM3 KLHDC8B TCF4 MAGT1 RASGRP1 ATM RNF43 CASP10 CDKN2A FAS CD27 PRKCD AAGAB TP53 POLE CD70 MDM2 DKC1 COL14A1 CHEK2 STAT3 ITK FASLG HP_T_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_T_CELL_LYMPHOMA NBN TNFRSF1B CD28 FAS CTLA4 PRKCD POLE RASGRP1 CASP10 MSH6 FASLG HP_B_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_CELL_LYMPHOMA NBN FOXP1 FAS PRKCD MALT1 ATM MAGT1 RASGRP1 CCND1 ADA BIRC3 PIK3R1 BCL10 CASP10 ITK FASLG HP_INSULINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULINOMA CDKN1B MEN1 CDKN2C CDKN1A CDKN2B HP_ABNORMALITY_OF_PROTHROMBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PROTHROMBIN F2 CFH ACAD9 HMGCL MST1 PRF1 F5 PMM2 F7 VKORC1 CFI EFL1 CD46 MCFD2 GGCX AHCY SLC25A13 NGLY1 F10 RINT1 COG8 GPC1 MTTP NR1H4 HADH LMAN1 HELLPAR PET100 SLC30A10 GFI1B TCF4 NBAS AGA GPR35 GNE HP_ONYCHOMYCOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOMYCOSIS IL12A CARMIL2 CDH23 SPIB CARD9 USP8 IRF5 TNPO3 TNFSF15 PLCG2 TRAF3IP2 CLEC7A DOCK8 CYBC1 MMEL1 IL17RC IL12RB1 POU2AF1 SDR9C7 HP_ABNORMAL_SPERM_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_MOTILITY NME8 DNAAF5 SPAG1 SUN5 CFAP69 RSPH1 PKD1 DNAH17 GAS2L2 RPGR TTC12 GAS8 CFAP300 LRRC6 DNAH5 TTC25 CATSPER1 RSPH4A HNF1B CCDC151 CATSPER2 ARMC4 DNAL1 DNAH11 GBA2 CCDC40 DNAH2 DNAH9 CFAP58 HYDIN STRC BICC1 DZIP1 CCDC114 DNAJB13 CFAP65 DNAI2 DNAH8 CFAP298 CEP112 LRRC56 GANAB BRDT DNAAF1 CCDC103 SPEF2 CFAP410 DNAH1 ZMYND10 CFAP221 CCNO RSPH9 DNAAF6 MCIDAS CFAP70 TTC29 DRC1 ARMC2 PMFBP1 FOXJ1 PKD2 OFD1 CCDC39 RSPH3 DNAI1 STK36 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 HP_REDUCED_SPERM_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SPERM_MOTILITY CFAP298 CEP112 SUN5 CFAP69 GANAB PKD1 DNAH17 BRDT CATSPER2 LRRC6 SPEF2 CFAP410 CATSPER1 HNF1B GBA2 TTC29 DNAH2 CFAP58 ARMC2 PMFBP1 RSPH4A PKD2 STRC BICC1 ZMYND10 DNAH8 HP_IMMOTILE_SPERM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMOTILE_SPERM DNAAF5 CATSPER1 CFAP70 DNAJB13 CFAP65 GAS2L2 RSPH9 CATSPER2 STRC DZIP1 HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA ARHGAP26 NRAS KRAS NF1 PTPN11 CBL HP_ABNORMAL_RENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MORPHOLOGY WDR35 KDM6A CLIP2 UBR1 ANOS1 PUF60 SOX4 TBC1D8B CDKN1A PCSK9 GNB1 CRB2 CTNS PEX5 WNT5A ATRX IFT122 PRMT7 SF3B4 KCNH1 MAP3K7 SHANK3 APRT BRCA1 FGFR1 PEX12 BCS1L HSD11B2 TTC37 FAM20A ATP7B SIX3 NPHP3 CFI BTNL2 KCNA1 CCDC22 PROKR2 NOTCH2 MMACHC ACP5 IFT27 RAD21 PEX6 PLCD1 PREPL KANSL1 PIGQ CEP55 MRPS22 GATA3 IL17RD STAT4 LIG4 SIK1 FAM20C PIK3R2 HDAC8 ARL3 MT-TK DISP1 SLC29A3 HPRT1 IL23R TBX15 PLD1 SPART MT-TE KCTD1 AVIL IFT172 TSC2 DHCR7 NSDHL FANCM ADA2 THOC6 PPM1B LMOD1 NRIP1 RNU4ATAC ITGA8 KIAA0586 WT1 HPSE2 DYNC2I1 ABCC6 C8orf37 NODAL RPS26 FIBP EP300 NFIA MT-TV GLI1 FOXF1 OFD1 DCDC2 NLRP3 ALG8 TMEM107 FGF10 BRF1 PDSS2 TBL2 MT-ND5 ALG9 MAP11 GPC3 SEC61A1 G6PC DEAF1 PEX26 XRCC2 GP1BB GAS1 DSTYK RFWD3 CCNQ HESX1 TXNL4A KCNE5 MYOD1 MT-ND6 SALL4 DYNC2I2 UBAC2 BICC1 MKS1 RAD51C FN1 EYA1 LAMC2 SLC22A12 NPHP1 MASP1 NF1 HAAO NUP93 FGF8 SKIV2L KIF1B TMEM67 NEK8 VAC14 RAB3GAP2 LIMK1 SHPK DNASE1L3 HGD GRIA3 SLC25A11 MBTPS2 NPHP4 PEX3 HLA-DRB1 SCN1B MT-TL1 POMT1 PTPN11 NDUFS2 CFH COG7 CYP24A1 NARS2 SMS PAX7 NADSYN1 LAGE3 ROBO2 CPT2 PAX2 C4A ENPP1 RPS15A LRP4 RAD51 YY1 SMC3 DPH1 ANLN SLC1A1 CCND2 TBC1D20 GLMN SHH APOE C1QB DCC ITGB4 HSPG2 MOCS1 MEOX1 NCAPG2 RBM8A PGAP2 WIPF1 SEMA3A PIGA CDC73 TMEM216 FANCD2 COMT DYNC2H1 INS MKKS GPKOW HMGA2 FUT8 ANKS6 CCR1 RPL11 ABCC8 RPS19 MT-TF ACE MAPKBP1 MED25 GNA11 SLC9A3R1 B9D1 GLIS3 DIS3L2 ABCG8 BUB3 TCTN2 FLCN GP1BA GLA PIGL MUC1 MT-ND2 SLC3A1 DLL1 PDHA1 PEX13 SMARCD1 CEL FAN1 PQBP1 PEX10 WDR11 RAB23 PEX2 BBS9 RPS10 ACTB B4GAT1 TMEM138 SLC36A2 PRTN3 MAP2K1 DYNC2LI1 TP63 B3GLCT SLC34A3 IQCB1 BRAF PRKCSH LZTFL1 AKT1 CENPJ LTBP4 RBM10 NSUN2 AMMECR1 PKD1 ERAP1 RAB3GAP1 WNT3 AKT3 COL7A1 TRIP11 BMPER HLA-DPA1 ADGRG2 NDUFB8 CACNA1D NSD1 XPNPEP3 DVL1 RPS28 FOXC2 FANCC CHN1 SCARB2 FLNB SLC4A1 KMT2D LDLR SDHC ARID1A ZNF423 GEMIN4 DLST PPP2R1A BMP4 ZEB2 CLPB NOD2 GLIS2 MEFV ELN HLA-B FGFR2 TRNT1 STAG1 FLNA TAF13 SPOP MT-TW IFT80 STRA6 WDR19 CIT SC5D ANTXR1 HNRNPK DCHS1 SMARCC2 RPL5 PRPS1 TBCK PLVAP MAD2L2 SDCCAG8 CWC27 TTC8 KNSTRN CLDN16 ADA FBXW11 FGF23 FRAS1 KISS1R RERE VPS33B PEX11B SBDS SURF1 ATP6V0A4 PGAP3 TMEM127 ERCC6 COX14 EMP2 PIGV ATP6V1B1 FGF17 CD96 APC CSPP1 FAS USP9X CASR PIGN EPAS1 NUP133 UFD1 B9D2 MAPK1 SLX4 AMER1 ACTG2 NUP107 RAI1 FEZF1 LEMD3 BBS1 PGM3 TNXB TBC1D24 SDHAF2 INTU FAM149B1 GTF2IRD1 ETFB DLK1 REN OPLAH POGZ TSC1 COQ2 NAA10 HNF4A C1QC POMT2 ESCO2 TRRAP RPL15 RFC2 PALB2 ITGA3 PDE6D ZIC3 MT-TS2 SEMA3E ADAMTSL1 COQ6 HRAS SIX5 XDH DYRK1A LAMB2 LPIN2 PMM2 SOX18 KNL1 PIK3CD CDKN1B USP8 CFHR5 LIPT2 SASS6 SLC37A4 KIAA0753 MDM2 WASHC5 VDR CLCN5 ZMIZ1 SMARCE1 GATA1 FREM2 ACVRL1 SON CEP290 RET INSR PEX1 TTC21B SSR4 POLE MCTP2 PTH1R EHMT1 STRADA SDHA SARS2 CCBE1 SETD2 PDX1 MT-ATP6 VHL UMOD FANCE NEUROD2 NEUROD1 CPLANE1 RARB RPGRIP1L GCM2 MYH11 FGFR3 IL12A-AS1 SOX17 PIK3CA GRIP1 CTU2 TBX3 MAX HS6ST1 JMJD1C MT-CYB CRTAP NPHS1 SPRY2 RPL27 SAA1 SDHD ETFA WDR62 GALNT3 ZIC2 INTS1 ADAMTS3 DLL4 FANCA MYOCD LAMB3 COL4A4 IFT43 DDX59 NRAS KRAS TMEM231 CDKN2C HNF1A WAS ACTN4 BCOR GREB1L LDLRAP1 DZIP1L TRIM8 PORCN RPL26 CC2D2A SOX11 STIL MYMK INF2 RTL1 IGF2 EBP SLC6A19 ACTG1 AGXT METTL5 ZNF687 SLC5A1 ANKLE2 MT-TQ NIPBL FANCB RPL35A ARL6IP6 PIEZO2 PRDM16 PIGY RPS7 GDNF LRIG2 TFAP2A PEX16 CEP120 CEP57 CD81 MTX2 ADAT3 NPHS2 CENPF FANCF SUFU ARX STS MDH2 GLI3 SLC34A1 PAX1 CHD7 ARVCF DACT1 SOX10 WDPCP CDKN1C COL4A5 FLI1 SERPINH1 PLG HDAC4 TOR1A CASK AFF4 PPP2R3C PIGO BAZ1B SMC1A KLRC4 FANCL KCNQ1 KCNQ1OT1 SALL1 ERBB3 EVC2 OCRL PROK2 KIF14 TBX18 CDK5RAP2 RMND1 HNRNPU MYLK FREM1 ITGA6 MSH3 DGKE MOCOS FKRP DKC1 PAH CLDN19 ATP7A ADCY10 STAT1 PIGW PCK1 BUB1B TBX1 LONP1 SMAD4 TP53RK ARID2 ABCG5 TRAF3IP1 KCNJ1 SLC6A17 FANCI TSR2 KMT2A IFT140 CEP152 CHST14 RPGRIP1 GDF6 MFSD2A MT-ND1 MLXIPL BBS4 COPB2 AGTR1 SEC24C MME MEG3 GTF2I CEP164 SETBP1 PLCE1 ENG RSPO2 CLDN10 MAGI2 MT-CO1 RIPK4 PRKCD EVC AGT KYNU SLC7A7 TELO2 SRCAP LMX1B INSL3 FGF20 WNT4 LHX1 INPP5E NUP85 SPECC1L SLC25A22 COL4A1 POR PCK2 LMNB2 RBBP8 CREBBP APPL1 RAB18 FAH CYP27A1 MCPH1 RASGRP1 AIRE MICOS13 IL12A INVS COL4A3 MNX1 SMARCAL1 IARS1 PTCH1 CEP83 SOX9 ALMS1 DNA2 PKD2 COQ7 COQ8B CDKL5 FUZ PEX14 SIX1 STX3 NBN SDHB DPF2 ALDH18A1 PYCR2 AIP VIPAS39 PHC1 KLF11 MTRR ASPM GBE1 BNC2 WDR73 GPC4 CHRM3 NDUFAF3 GCK ETFDH IFNG TRIM32 CDKN2B BBIP1 MT-CO3 COLEC10 MAGED2 ARL6 GRHPR SRP54 TREX1 SCN2A OSTM1 CFTR COLEC11 KCNAB2 POLR3A DMXL2 KRT17 SMO ERCC4 AR CA2 MYCN BBS10 AHI1 SRY NSMF HSD17B4 GNAO1 TMEM260 KAT6A SLC12A1 LMNA MYO5B CDC42 ERCC8 RPS24 OSGEP SLC35A2 KAT6B PKHD1 SLC7A9 FBN1 TCTN3 PUS3 CDON TACR3 JAK1 TRPC6 RPL18 CTLA4 LRP5 ZAP70 PIK3C2A CD2AP GABRD SLC12A3 MMP1 PBX1 TRIP13 KCNJ11 COG1 STXBP1 LAMA3 NDNF UBE2T MCM5 PTPN22 MT-ND4 RAF1 PIGT CTH SMARCB1 BLK PACS1 FOXP3 HSPA9 WFS1 HNF1B PPP1R15B ACSL4 EXTL3 SPINK5 COG6 FLII ARID1B BSCL2 ELP1 VPS33A NUP205 SI SGPL1 BUB1 KIF7 HYLS1 IL10 PTPRO FH GP9 RREB1 MOCS2 PTEN DNAJC21 MEN1 RPL35 RPL31 HIRA SLC30A9 ZNF148 PNKP TGIF1 NUP160 SNRPB JAM3 MAFB GLI2 DSE CASP10 ATN1 CAMKMT SLC2A9 SETD5 CLCNKB BSND SMARCA4 POU3F4 FAT4 SKI GANAB NDUFAF6 BBS7 MGME1 IQSEC2 PHGDH MT-TH ROR2 PRKAR1A SMOC1 CTNNB1 C3 DHCR24 TBX22 CCDC141 HOGA1 YY1AP1 CEP135 MAP2K2 FASLG ALPL VANGL1 FKTN SH2B1 TAPT1 CEP63 NCAPD3 GDF3 PPP3CA C1QA NXN PIGP PEX19 GNAS RPS17 PAX4 BRIP1 RECQL4 CILK1 JAG1 DDX6 TKT COPA FIG4 CDK6 APC2 BBS5 WAC MYO1E APOB GDF2 MMUT LARGE1 APOL1 CCND1 BBS12 TLR4 ARMC5 DNMT3A LMBRD1 TMEM237 XRCC4 NEK1 ARHGDIA BRCA2 HOXD13 CDH23 TPRKB CHRNA3 G6PC3 SLC2A2 PLEC TDGF1 RPS29 AGPAT2 SEC63 FLRT3 DUSP6 TASP1 SPRY4 DHX16 CEP41 STK11 FOXH1 SLC26A1 HLA-DPB1 FANCG SLC6A20 RTTN MT-ND3 RPS27 AP2S1 RORA MT-CO2 ARNT2 BBS2 SCO2 HP_ABNORMAL_RENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PHYSIOLOGY NOD2 LCAT CLIP2 NDUFS4 WT1 TBC1D8B CRB2 CTNS IFT122 SCNN1G APRT BRCA1 HSD11B2 NDUFV1 FAM20A ATP7B CFI CYP11B2 BTNL2 DIS3L2 NOTCH2 MMACHC IFT27 HNF4A GATA3 STAT4 NPHP3 HDAC8 ALOX12B MT-TK HPRT1 IL23R MT-TE KCTD1 AVIL IFT172 TSC2 GSN FANCM KCNJ5 KIAA0586 DYNC2I1 TBL1XR1 PHKA2 DCDC2 NLRP3 CYP4F22 PDSS2 EPG5 TBL2 MT-ND5 SEC61A1 G6PC RARA XRCC2 CFH F10 SLC34A1 TMEM237 KCNE5 MT-ND6 UBAC2 BICC1 RAD51C FN1 EYA1 SLC22A12 NPHP1 XYLT2 NUP93 TREX1 NDUFA1 TMEM67 AVPR2 VAC14 ERCC8 LIMK1 SHPK ITGB3 DNASE1L3 SLC25A11 NPHP4 HLA-DRB1 MT-TL1 CORIN NDUFS2 CYP24A1 LAGE3 WDR73 YAP1 IRAK1 CPT2 ITGA2 PAX2 C4A RAD51 SMC3 EFEMP2 STAT2 ANLN APOE NDUFAF1 C1QB CISD2 TTC21B YWHAE NABP1 SCNN1A WIPF1 FOXI1 CDC73 CFHR1 FANCD2 INS ANKS6 CCR1 ABCC8 MT-TF ACE MAPKBP1 SHANK3 PRKAR1A EIF2AK3 TMEM216 GP1BA GLA ZFPM2 MUC1 SLC3A1 CEL FAN1 BBS9 PRTN3 AQP2 PAX6 BRCA2 PAFAH1B1 SLC34A3 IQCB1 NR0B1 LZTFL1 HBB PKD1 ERAP1 SERPINA1 XYLT1 GATM COL7A1 HLA-DPA1 NDUFB8 NSD1 XPNPEP3 FANCC SCARB2 SLC4A1 STOX1 SDHC HLA-B DLST CLPB GLIS2 PGAM2 MEFV ELN MT-TW MCFD2 WDR19 OCRL PRPS1 WDR35 PLVAP MAD2L2 SDCCAG8 TTC8 CLDN16 PHYH MAP3K1 COA8 SDR9C7 SLC12A3 RRM2B KIF1B APOA1 VPS33B NDUFA11 SURF1 ATP6V0A4 IL7R ERCC6 NR5A1 DNAJB11 TTR EMP2 TIMMDC1 ATP6V1B1 HNF1A MAFB GCDH FAS F8 NDUFS6 EPAS1 NUP133 STAT3 AMMECR1 SLX4 NUP107 BBS1 PGM3 GNAS TRIM28 OCLN SDHAF2 GTF2IRD1 ETFB REN HMGA2 TSC1 PC COQ2 DHDDS PYGM C1QC TPRKB DMP1 RFC2 PALB2 ITGA3 IFT80 MT-TS2 COQ6 GP1BB SIX5 XDH HPS1 LAMB2 LPIN2 PMM2 THBD SOX18 ADA2 CFHR5 SLC37A4 MDM2 LRP2 TMEM138 CLCN5 ACVRL1 TMEM126B NDUFAF6 CACNA1S REST KCNJ10 SDHA SARS2 SETD2 PDX1 UMOD FANCE CCR6 KYNU NDUFS3 ADAMTS13 NEUROD1 GCM2 CASR ALDOB IL12A-AS1 PGK1 HELLPAR NDUFV2 NPHS1 CFHR3 IKZF1 UQCC2 SPRY2 CLCNKB SAA1 SDHD SLC7A7 ETFA GALNT3 BCS1L MMUT DYNC2I2 ZNF592 MYOCD ITPR3 COL4A4 RET WAS SLC25A20 ACTN4 DZIP1L FXYD2 INF2 NDUFS1 CD46 NDUFS8 AGXT SLC5A1 MT-TQ NIPBL LRIG2 CEP120 CD81 NPHS2 FANCF PEX19 COL4A6 NDUFB9 ITGB4 HOXA13 ZNF423 STS NDUFAF4 MDH2 NDUFS7 DACT1 COL4A5 PLG NUMA1 LMAN1 CSPP1 SLC5A2 BAZ1B FIP1L1 KLRC4 FANCL PRODH WFS1 SALL1 TBX18 ABCC6 RMND1 CA2 TMEM231 ITGA6 DGKE MOCOS DNASE1 IRF2BP2 PHEX CLDN19 ZAP70 STAT1 IFT43 IFIH1 SMAD4 TP53RK TRAF3IP1 KCNJ1 STAT5B PTPN22 IFT140 CPT1A CHST14 MT-ND1 MLXIPL AGGF1 B2M AGTR1 MME GTF2I PML PLCE1 FBLN5 ENG NDUFB10 CLDN10 MAGI2 BCOR MT-CO1 PRKCD MT-ND2 SLC17A5 RYR1 AGT DMRT3 CHD7 ALG1 LMX1B CC2D2A RAG2 LHX1 INPP5E NUP85 KANK2 COL4A1 SMC1A NDUFAF2 GATA4 LMNB2 RMRP PHKG2 ADA HRAS C8orf37 MT-ND3 APPL1 FAH WDR4 TRIP13 GCK RASGRP1 CEP290 NDUFAF3 IL12A INVS FCGR2B COL4A3 SMARCAL1 GPC3 ENPP1 CEP83 ALMS1 NDUFA6 PKD2 CLCNKA BBIP1 COQ8B FUZ FLT1 TRAF3IP2 SIX1 RPGRIP1L ALOXE3 STX3 FCGR2A C3 GBA DYNC2H1 PEX7 FOXRED1 VIPAS39 RAG1 KLF11 MTRR VHL BNC2 EHMT1 C1QBP OFD1 ETFDH TRIM32 PKDCC PIGA MT-CO3 DYNC2LI1 MAGED2 LEMD3 GRHPR DHX37 ITGA2B DSTYK SDHB ERCC4 NUBPL MYCN BBS10 VAMP7 AHI1 TMEM260 MAX SOX9 CD109 SLC12A1 MYO5B OSGEP SLC35A2 F2 ACP5 IL17F SLC7A9 PUS3 JAK1 TRPC6 CTLA4 CD2AP MMP1 PBX1 CCN2 KCNJ11 COG1 UBE2T CCNQ MT-ND4 RAD21 EHHADH TCF4 BLK FOXP3 PPOX NPM1 MARS1 LYZ UMPS WDPCP HPSE2 ZBTB16 SULT2B1 SPP1 HNF1B CPOX ACSL4 COG6 CCND1 TGM1 CYB561 ELP1 VPS33A NUP205 SLITRK6 SGPL1 FANCB LPIN1 IL10 PTPRO FH GP9 CAV1 SERPINF2 PKHD1 MEN1 IL2RG SLC30A9 NUP160 CDK4 FANCI CASP10 CEP164 SETD5 NIPAL4 HMOX1 SNAP29 BSND MT-TT CFB MT-TN TCN2 H19 SLC2A2 NDUFAF5 GANAB BBS7 POU6F2 NF1 CYBC1 MT-TH NDUFB11 NDUFB3 CLEC7A IL6 COL3A1 NTRK1 SCNN1B MYH9 HOGA1 CHD4 PRDX1 YY1AP1 ATP1A1 FASLG LDHA CHRM3 VANGL1 MST1 SH2B1 LIG4 ARL6 RASA1 C1QA PAX4 BRIP1 NADK2 JAG1 TMEM127 COPA FGA LIPN FIG4 APC2 IL17RC SRY MKKS CD151 BBS5 SLC4A4 MYO1E FBXL4 KMT2A BBS4 PNPLA6 F5 NEK8 GPR35 GDF2 APOL1 BBS12 TLR4 DNMT3A IL17RA ARHGDIA CHRNA3 SREBF1 MKS1 MYD88 IRF5 HMBS SLC26A1 HLA-DPB1 RFWD3 NDUFAF8 FANCG CAD FANCA ABCA12 AP2S1 MT-CO2 BBS2 WWOX SCO2 SLC26A4 DCLRE1C HIC1 HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE SLC7A7 SLC37A4 GANAB PKD1 BSND G6PC ITGA3 PKD2 BICC1 AGXT CLCNKA CYB561 PUS3 MUC1 DNAJB11 CLCNKB HP_ERYTHEMA_NODOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA_NODOSUM NOD2 BTNL2 ADA2 LRBA XIAP PSMB8 HLA-DRB1 NLRP12 HP_ARACHNOID_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARACHNOID_HEMANGIOMATOSIS SDHD TMEM127 SDHA MAX SLC25A11 SDHB SDHAF2 VHL FH MDH2 NF1 SDHC GNAQ DLST RET KIF1B HP_URETHRAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STRICTURE COL7A1 ITGB4 MKKS MMP1 ITGA6 TERT PLEC LAMC2 CDC45 FLT4 LAMA3 LAMB3 FERMT1 POLA1 HP_CSF_PLEOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CSF_PLEOCYTOSIS TBK1 TREX1 RNASEH2B UNC93B1 ADAR PRF1 PRRT2 SAMHD1 TICAM1 RNASEH2C RNASEH2A TLR3 SCN1A NOTCH2NLC CACNA1A ATP1A2 IFIH1 TRAF3 HP_SHORTENED_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_QT_INTERVAL CDC73 MEN1 CDKN2C CDKN1B CDKN1A CDKN2B KCNJ2 CACNA2D1 KCNQ1 CACNB2 KCNH2 CACNA1C HP_INTRAMUSCULAR_HEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAMUSCULAR_HEMATOMA F2 F10 SERPINE1 F8 F13A1 F13B SERPINF2 F7 HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS COQ8A ABHD5 KCNE3 PNPLA2 CACNA1S MT-TN COX6A2 SCN4A GABRA3 KCNJ18 SURF1 CHCHD10 ISCU MSTO1 SDHA NDUFA4 AFG3L2 HP_ABNORMAL_SEX_DETERMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SEX_DETERMINATION MAP3K1 WT1 CYP11A1 SRY HSD3B2 DHH CYP17A1 NR0B1 SOX9 NR5A1 AKR1C4 WNT4 ZFPM2 AKR1C2 POR DHX37 GATA4 RSPO1 CBX2 CYB5A CILK1 VAMP7 DMRT3 WWOX HP_SEX_REVERSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEX_REVERSAL MAP3K1 RSPO1 SOX9 CYP11A1 CBX2 SRY DHH NR0B1 NR5A1 AKR1C4 WNT4 AKR1C2 ZFPM2 CILK1 HP_OCULOMOTOR_NERVE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_NERVE_PALSY TRAF7 TERT AKT1 CDH23 UGT1A1 MAFB TRPV4 PLEC NF2 SMARCE1 PDGFB AIP MYMK MEN1 ANGPTL6 BAP1 SUFU COL3A1 ENG CHN1 PIK3CA TGFBR3 SALL4 THSD1 SMARCB1 SMO HP_PROLONGED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PR_INTERVAL SCN2B TLL1 NKX2-5 CLCNKB GPD1L DMPK SLC12A3 GNB5 KCNA5 HP_ABNORMAL_ST_SEGMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ST_SEGMENT SCN1B GYG1 TNNC1 SLC12A3 HCN4 SCN10A NKX2-5 CITED2 AKAP9 KCNE3 KCND3 TBX20 ABCC9 SCN3B GPD1L SLMAP PKP2 CLCNKB SCN2B POLG GATA6 SCNN1A RANGRF GATA4 KCNJ8 ACTC1 TRPM4 SEMA3A SCN5A MYH6 CACNA1C KCNE5 TLL1 CACNB2 CACNA2D1 HP_ST_SEGMENT_DEPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ST_SEGMENT_DEPRESSION CLCNKB MYH6 TBX20 GATA6 TNNC1 SLC12A3 TLL1 GATA4 ACTC1 NKX2-5 CITED2 HP_ST_SEGMENT_ELEVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ST_SEGMENT_ELEVATION SCN1B GYG1 HCN4 SCN10A AKAP9 KCNE3 KCND3 ABCC9 SCN3B GPD1L SLMAP PKP2 SCN2B POLG SCNN1A RANGRF KCNJ8 TRPM4 SEMA3A SCN5A CACNA1C KCNE5 CACNB2 CACNA2D1 HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY WDR35 CLIP2 CR2 NODAL SOX4 HES7 FSHR IL6R PPARGC1A SF3B4 ZFPM2 BRCA1 IRF5 CFI DIS3L2 PARN BCL10 CCDC114 KANSL1 STAT4 FGFR2 MAGEL2 GDF1 SNRPN SLC29A3 IL23R CTRC CCDC103 CD3D FMR1 SLC12A2 UBA1 TSPYL1 IFT172 DHCR7 NSDHL TGFB1 GSN SMAD3 JAGN1 ACTL6A LRRC6 FUCA1 STAT3 SFTPC GLI1 FOXF1 IL7R JAK3 BRF1 EPG5 DGCR8 GAS8 NCF2 GPC3 DEAF1 EGFR TERC LCK RARA GLB1 XRCC2 SOS1 GP1BB DNAAF6 NELFA SLC34A1 IKBKB COL6A3 MANBA DYNC2I2 LAMC2 CFTR GAA HAAO SKIV2L NEK8 GUSB NBN PTCH1 DLL1 GRHL3 DNASE1L3 DNAAF1 FIG4 SIK1 KIF20A HLA-DRB1 SERPINF2 TGFB2 CCNF GMNN EWSR1 DCLRE1C NPAP1 RTEL1 RAD51 DVL3 DKC1 SNORD116-1 CIITA PTCD3 VAMP1 MLX GLMN TNFRSF13C MAGT1 ENG TNNT2 HSPG2 NABP1 KMT2E TBX20 FANCD2 RLIM TSC2 MKRN3 ALX3 RHOH CRKL RAG1 BUB3 RUNX2 TDGF1 GLA PTH1R COL13A1 RPL10 SCNN1A TNFRSF11A SPEF2 RIT1 DYNC2LI1 BRCA2 RSPH4A TRAIP B3GLCT EHMT1 BRAF PEPD GTF2H5 LTBP4 RBM10 DNAH1 ERAP1 MYL2 CSF2RB LRP12 SERPINA1 TNNI3 TRIP11 OCA2 SERPING1 NSD1 KCNJ2 LAMB2 TBX1 ATP6V1E1 PSMD12 TRPV4 NFKB2 ARID1A IL2RG GLI2 RUNX1 TYK2 PRKAR1A BLNK DYNC2I1 ZEB2 NOD2 NECTIN1 MEFV TGFBR1 HLA-B FLNA IFT80 COG4 FGFR1 NOP10 WDR19 DCHS1 HNRNPA1 MAD2L2 DCTN1 CD79A ADA FGF20 WDFY3 NCF4 FRAS1 INPPL1 SDR9C7 NME8 CLCA4 KCNMA1 MLH1 HPGD NUP107 DNAAF4 DOK7 COL2A1 CAV1 CD19 DCTN4 MKS1 CCDC151 RRAS2 PRRX1 STAT1 FAS SELENON PIGN UFD1 TCIRG1 TRMT1 TERT CCDC65 DNAH5 ATP11A MED13 GLDN TTC25 GTF2IRD1 SCN10A REN FLCN ESS2 PDE4D NFKB1 PALB2 ELN SLC34A2 TP53 ITGA3 RAG2 HYDIN AHDC1 ZIC3 FBN2 SEMA3E STAT5B NIN TAP2 HPS1 BCR PKD1L1 KIF1A CYBC1 PIK3CD IVNS1ABP SRPX2 COL6A2 TK2 PRKDC NEK1 RFX5 DNAH11 ACVRL1 LRP4 FOXP1 NDUFAF6 RPGR PON3 BMPR2 MYH7 DICER1 SETD2 ZAP70 VHL CITED2 NEPRO CYBB RARB DAO SATB2 IL12A-AS1 DPP9 GRIP1 TPM2 TBX3 CBL RYR1 JMJD1C CRTAP IKZF1 SLC7A7 SPAG1 ETFA ADAMTS3 SLC25A1 LAMB3 FOXH1 SIX3 WAS SHH COL11A2 ARNT2 GREB1L DZIP1L SOX9 USB1 CFAP300 NDN DRC1 PSMB4 PLP1 CCBE1 FOXE3 CDON HACD1 MBTPS2 CD79B GLE1 SH2D1A TGFB3 RAI1 CEP120 COLQ KIF11 BLM ARMC4 COL4A6 TINF2 PCGF2 TBCD COL12A1 EFL1 CHD7 GATA6 FGF8 TCOF1 FLI1 PLG TAF1 NUMA1 HDAC4 ADA2 FLT4 ATXN2 DNAJB13 CFAP410 AFF4 FLNB FBLN5 EP300 FIP1L1 SLC18A3 LAMTOR2 FANCL PEX13 FGFR3 STRA6 EVC2 TAP1 TGIF1 TET2 IFNGR1 RIN2 RSPH3 BIRC3 IDS SAMD9L NDUFB10 PSAT1 UMPS CCNO ANG MKKS UNC119 ABL1 IFT43 FOXE1 CD46 GFI1 COL5A2 DSG1 SMAD4 MS4A1 SCN9A NCKAP1L CHST14 ACTA1 MLXIPL HFE AGGF1 PRPS1 B3GALT6 AGTR1 RIPK1 OCRL TFRC KRAS PTPN22 TBC1D24 MEG3 CD81 GBA ABCA3 SETBP1 RSPO2 BCOR LYST EVC SLC35A1 AGT COL11A1 TSC1 RSPH1 GAS2L2 DDR2 ALX1 CEP55 WNT4 EIF2AK4 PSAP DNAL1 RIPK4 DYNC2H1 FOXN1 UBQLN2 TNFSF12 CREBBP RMRP COL3A1 DHCR24 PWAR1 DNAI2 C2CD3 SLC26A2 NLRP1 RASGRP1 IL12A UBE2A FCGR2B AGRN NR2F2 ADAMTSL2 CTC1 NFIX ALMS1 COQ7 TRAF3IP2 DNAAF3 CHRNG RFXAP MAT2A FCGR2A POLR1C TTC12 DNAAF5 ASAH1 GNPTAB DPF2 SMN1 TBX5 PMM2 PROKR2 FAT4 TMEM94 IFIH1 SMC1A POLR3A CDC45 TAPBP PAX6 SMPD1 IFNG MSH6 MESP2 CTSC PIEZO1 NFKBIA PGM3 CTCF PTEN ERF TBK1 RIPPLY2 LONP1 KATNIP SNAI2 ERCC4 DGCR2 PTPN11 SFTPB NOTCH2NLC SCNN1G KEAP1 TMEM260 NCF1 IRF8 CXCR4 KAT6A BTK IL1RN FLNC ARHGAP31 CDC42 DNAAF2 ALG12 KLHL40 CD27 PERP KMT2C DPM2 RALGAPA1 CD40LG TBC1D23 CTLA4 SOX2 LOX TNFRSF13B EDARADD CCN2 FAM111B LRRC56 UBE2T CCNQ ANO3 SH3KBP1 ELANE UGP2 HESX1 DNAI1 SCNN1B EHHADH TCF4 EXOSC9 FANCB CCDC39 GLI3 CASP8 FANCF RASA2 EXTL3 ZNF341 UNC13A SOD1 CCND1 BTD FLII ARID1B SBDS GLT8D1 TGM1 MID1 ELP1 VPS33A PDGFRA TRPV3 STAT6 PIEZO2 MECP2 ACADVL IL10 MARS1 DONSON RREB1 PKHD1 DNMT3B OSTM1 TANC2 DISP1 ARMC2 HIRA TNFRSF1A STK36 PFN1 HPS6 SPIDR AARS2 PEX1 WT1 PHGDH BCL11B ECM1 SLCO2A1 LIFR FANCI TRIP4 GPC4 DSE ASCC1 RAF1 NSMCE3 MED12 KMT2D USP9X NLRP12 RPL5 LMOD3 SLC2A10 SLC5A7 CTPS1 SRP54 POLA1 CFB MYOD1 POU6F2 IQSEC2 RB1 OFD1 TAF15 CLEC7A MDM2 NTRK1 IGSF3 DLK1 COG6 RNF168 LIG4 DLL4 TAPT1 RAC1 ERCC3 SCARF2 MYRF PIGT KIF7 TRIM2 LEP NXN CC2D2A CCDC40 CACNA1C MGP STX1A PYROXD1 PCNT NF1 BRIP1 NADK2 EFEMP2 JAG1 EMC1 GALNS NRAS FADD SAMD9 IRAK4 TECPR2 BGN LIPN PAX3 PANK2 WAC MATR3 TTC7A F5 CEP57 PPP1CB GPR35 GDF2 ZIC2 TCTN3 PLCG2 FOXJ1 IL17RA FOXP3 PLA2G6 PWRN1 SREBF1 AK2 IL21R SLC11A1 PLOD1 MYD88 BCORL1 MSN HGSNAT STK11 SYT1 PDGFRB LZTR1 RFWD3 FAM13A STING1 PORCN ARSB ITK GAS1 SLC26A4 UBE3B KDM6A PUF60 ADGRG6 C11orf95 AGA COL6A1 PRMT7 PRKG1 TTC37 NPHP3 TCF3 BTNL2 CCDC22 NOTCH2 ACP5 EOGT THOC2 EPM2A CALCRL NOTCH1 NR5A1 ZBTB24 ITPR1 FAM20C ALOX12B SP110 F12 FANCM RSPH9 CDT1 ITGA8 KIAA0586 SYT2 TBL1XR1 CYP4F22 TBL2 CHAMP1 ITGA7 CHRNA1 UBB POLE MUSK DNAH9 NKX2-1 HERC2 SALL4 UBAC2 NHP2 MYO5A FBN1 GPC6 LACC1 LRRC8A LIMK1 EDNRB RPS15A NHLRC2 IGLL1 CHAT LBR SPECC1L FMO3 MALT1 IRAK1 SOX18 RAC2 SNX10 C4A PON2 GALC WRN PSMC3IP TREX1 CARD11 WIPF1 GLUL FOXI1 CARMIL2 EIF4A3 COMT MYPN GPKOW MYBPC3 MINPP1 SNORD115-1 CCR1 ACE MED25 NAA10 SHROOM4 CAT PIGL SLC46A1 PDHA1 SMARCD1 PRTN3 CRELD1 TP63 ERCC2 RFXANK XIAP NOTCH3 AKT1 DLL3 WNT3 GATM LGI4 SLC25A24 HLA-DPA1 EDN1 LEPR LAT FOXC2 FANCC AICDA RRAS HABP2 CLPB TLL1 KAT6B GATA4 CSF2RA CD247 FCN3 SMARCC2 SCARB2 PLVAP EMG1 NKX2-5 KNSTRN SQSTM1 MEIS2 NFE2L2 RNF113A HLA-DQB1 TGFBR2 KIAA0319L DGCR6 SIX2 APC CSPP1 MYT1L MUC5B HPS4 SLX4 AMER1 IL21 ACTL6B PAFAH1B1 FARSA CACNA1B POLR2A TNFSF11 ITCH TRIM28 CD55 ETFB EPHA4 ZMYND10 DOCK8 NEK9 SMCHD1 TRRAP SRSF2 RFC2 BACH2 CRLF1 NLRC4 CFH LPIN2 ORC6 PLEC KCNJ6 ASXL1 ALG14 DDX6 WASHC5 KITLG ALG9 SMARCE1 CD3E SON RET CYBA PNP REST MCTP2 IDUA SCN11A BAP1 GATA2 PSMB9 FANCE NEFH CCR6 NAGLU COL5A1 KCNJ10 MT-CYB HELLPAR ZMIZ1 VAPB TPP2 RSPRY1 ABCA12 MSH2 MYSM1 HYLS1 P4HTM SOX11 MYMK SVBP RTL1 EBP B2M MCIDAS NHLRC1 CD8A IL2RA TARS1 CTSK UNG CDCA7 TPM3 STAG2 SCN4A GABRG2 ARVCF IER3IP1 RNU4ATAC ATM SERPINH1 CASR IRF9 BAZ1B MYO9A KLRC4 ZMPSTE24 LMNA PON1 NGLY1 MYCN TIMM8A LAMA2 MCM4 POLR1D RANBP2 FREM1 LFNG DNASE1 IRF2BP2 TRAPPC4 ICOS CD28 BUB1B ARID2 FARSB RELB IFT140 CHRND ACTC1 ZNHIT3 SLC35C1 ARHGEF1 MAP3K20 RAB27A CFAP298 FBXW11 SEC24C ADAMTS2 RBPJ PTPRC PSMB8 NEU1 GTF2I PML EPHB4 SOX10 SLC25A22 PRKCD IL12B SMARCD2 ANKH NEK10 TTC21B MYLK SOS2 DOCK3 BMPER TRIM37 STXBP2 IGHM PET117 RELA OPTN SNAP25 MASP2 MAP3K7 PRKAG2 SFRP4 HRAS SGSH MFAP5 TRIP13 MPLKIP NUP88 NTNG1 TCF20 INVS INTU PURA SNIP1 ALB MRAS FUZ ZCCHC8 ALOXE3 SFTPA1 MTHFD1 PABPN1 CDKN2A MIF LETM1 BCL2 TREM2 ETFDH IL6ST SPINK1 PKDCC MAPK1 TNFRSF1B FUS NOS1 SMO APOE NPM1 SGCG SOX3 CHMP2B RCBTB1 IL17F MAN2B1 WDR26 ERBB4 SLC12A6 ALDH18A1 FREM2 NEB LAMA3 ORC4 ADARB1 LTBP3 KPTN VCP SMARCB1 RSPO1 BNC1 IL6 ZBTB16 SULT2B1 TONSL SPP1 SFTPA2 SPINK5 PIK3R1 CHCHD10 AP3D1 ACTA2 MYH6 BUB1 HLA-DQA1 GTF2E2 SLC52A3 TBX6 PRSS1 NSD2 TBCE POR MST1R C9orf72 MYH11 GRIN2A VPS51 POLR3H SNRPB RAB3GAP2 A2ML1 CASP10 MYH3 CORO1A NIPAL4 ATP6V0A2 SIM1 SMARCA4 RAD51C H19 TARDBP MMP21 OTX2 ATRX IFT81 PRSS2 MITF WRAP53 KIF22 KLHL41 FASLG VPS13B ALPL CHRM3 VANGL1 WNT7A MST1 NIPBL TRPS1 STN1 IL2RB RNF125 DSP COPA PRPH APC2 IL17RC SLC1A4 CFAP221 AP3B1 DNAJC21 SDCCAG8 WDR1 CD3G LRBA BMP2 ANXA11 MDM4 ATP5F1A FERMT1 GJA1 RAPSN CLCN7 GNS TLR4 FCGR3A BPTF HOXD13 BCL6 ROR2 BMP15 MIR140 DOCK6 G6PC3 ADNP COL4A5 CHEK2 TASP1 HK1 HLA-DPB1 MRPS22 FANCG NAB2 FANCA HELLS HP_ABSENT_OUTER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OUTER_DYNEIN_ARMS CFAP298 CCDC151 DNAAF5 ZMYND10 DNAAF1 TTC12 CFAP300 DNAAF3 CCDC114 DNAL1 LRRC6 HP_ABSENT_INNER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_INNER_DYNEIN_ARMS ZMYND10 DNAAF1 TTC12 CFAP300 DNAAF3 LRRC6 CCDC39 HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS ZMYND10 TTC12 CFAP300 DNAAF3 LRRC6 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY CCDC65 CFAP298 DNAAF5 CCDC40 RSPH1 DNAH5 DNAAF4 DRC1 LRRC6 CCDC151 TTC12 DNAAF3 DNAAF2 SPAG1 RSPH9 RSPH3 NME8 DNAI1 GAS8 CCDC114 DNAL1 RSPH4A HYDIN ZMYND10 DNAAF1 DNAH11 DNAJB13 DNAI2 CCNO CCDC103 CCDC39 ARMC4 HP_IMMOTILE_CILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMOTILE_CILIA CFAP298 TTC12 DNAAF3 RSPH3 DNAAF4 LRRC6 RSPH4A DNAI1 HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT PHKG2 GYS1 TRMU ENO3 GYG1 PHKA2 MSTO1 MT-TE PYGM PFKM PHKB HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION PSAT1 SLC7A7 PSPH SLC25A13 PHGDH HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY TDGF1 NODAL TRAF7 ANOS1 NDNF TERT CDON DCC SMARCE1 DLL1 DISP1 CHD7 TGIF1 SEMA3A FOXH1 PTCH1 FGF17 SIX3 PROKR2 TRH GAS1 SHH IL17RD FEZF1 MAGEL2 WDR11 FGF8 SUFU BAP1 SMC1A SMARCB1 ZIC2 NSMF GLI2 STAG2 NF2 LHX3 PDGFB SOX10 HESX1 SIM1 FGFR1 TACR3 FLRT3 CCDC141 DUSP6 AKT1 SPRY4 PROK2 HS6ST1 PIK3CA KISS1R SMO HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY KIF7 CPLANE1 TMEM216 LEPR CTNNB1 GLI3 SOX2 TCTN3 PDE6D FAM149B1 KIAA0753 SMO CDH2 BRAF OFD1 SIX6 HP_NEOPLASM_OF_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_HEAD_AND_NECK STAT1 APC SDHC RSPRY1 STK11 FH CDKN2A TGFBR2 SDHA MSR1 RNF6 FOXE1 TP53 KIT ASCC1 MDM2 MINPP1 RHBDF2 BLM CTHRC1 SDHB RAD21 COL4A5 CHEK2 PDGFRA WWOX DLEC1 COL4A6 HABP2 HP_ABNORMAL_GENITAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GENITAL_PIGMENTATION HSD3B2 CYP11B1 BMPR1A PTEN POR HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE COG4 MAN1B1 COG6 COG5 ATP6AP2 COG8 COG1 MGAT2 SLC39A8 HP_HERPES_SIMPLEX_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERPES_SIMPLEX_ENCEPHALITIS STAT1 NCKAP1L UNC93B1 TICAM1 TLR3 TBK1 HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY DGCR8 PUF60 TMEM260 DNAH1 TBX1 GLI3 EP300 DGCR6 GP1BB CHD7 ARVCF CRELD1 GATA6 BCOR COMT PIGN UFD1 CREBBP ACVR2B FOXF1 WDR26 FGFR1 FLT4 SMG9 KRAS MCTP2 PPP2R1A SEC24C DIS3L2 MMP21 GJA1 STRA6 ESS2 PIK3R2 RREB1 NKX2-5 MEG3 GDF1 RTL1 MYCN HIRA JMJD1C SEMA3E DLK1 DGCR2 HP_HYPOPLASTIC_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_AORTIC_ARCH GJA1 PUF60 PPP2R1A NKX2-5 BCOR HP_ABNORMAL_RIB_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIB_OSSIFICATION SLC26A2 MGP COL10A1 LBR SRP54 SBDS BMPER DNAJC21 HP_MONOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCYTOSIS NRAS SRP54 G6PC3 DDX41 GFI1 ELANE TCIRG1 KRAS HP_FIBROUS_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROUS_TISSUE_NEOPLASM BMPR1A FLNA TRAF7 APC TERT MLH1 CDKN1A RSPRY1 PRKAR1A MEN1 SMARCE1 KCNH1 REST ELMO2 CDKN1B CDC73 FAS SPRED1 CDKN2C MSH2 PDGFRB TSC2 NF1 SEC23B PLCD1 PIK3CA SDHB AKT1 GREM1 PTEN IFNG MSH6 CDKN2B TSC1 USF3 ABCA5 PRLR ANTXR2 KCNN3 KLLN PRKCD SUFU NRAS KRT17 BAP1 PTCH1 SDHC NOTCH3 SMARCB1 COL4A6 NF2 SOS1 CASP10 PDGFB SDHD ATP6V1B2 COL4A5 HRAS DHCR24 KIT RASGRP1 MTAP KRAS CTNNB1 PTCH2 CREB1 FAM20C FASLG SMO HP_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOID_LEUKEMIA DNMT3A KRAS PTPN11 CBL TERC SRSF2 ARHGAP26 TERT SAMD9L SETBP1 NRAS NF1 ASXL1 F13A1 KIT F13B GATA2 TET2 HP_PYELONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYELONEPHRITIS KCTD1 CFI SHANK3 GANAB PKD1 HOXA13 PKD2 BICC1 BNC2 EFEMP2 FBLN5 XDH HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY GLA IL12A VPS13C TRDN SCN9A ARSA CHCHD2 CISD2 ASCL1 GMPPA CACNA1C UCHL1 SLC6A2 TTR KCNQ1 NR4A2 PODXL GBA LRRK2 SNTA1 TXN2 LEP SPIB COL5A2 CYP11B2 VPS35 DNAJC13 SIM1 AAAS SCN3A CYB561 MAPT ELP1 DBH MMEL1 SCN11A GLUD2 SOX10 KCNE1 B2M ACOX1 PINK1 HEXB ATXN2 KCNE2 HTRA2 GSN DNAJC6 COL1A1 ATXN3 SCN4B VPS11 ADH1C BRAT1 SNCA VPS13A CALM1 FMR1 COQ2 SYNJ1 IL12RB1 PRNP SCN5A CCT5 LIFR TSPYL1 PHOX2B NOS1AP TBP PLA2G6 POU2AF1 CAV3 CHRNA3 ATXN8OS TCF4 FBXO7 LMNB1 CAV1 POLR3A WDR45 IRF5 TNPO3 TNFSF15 GIGYF2 CALM3 KIF1B EIF4G1 PSAP WFS1 KCNH2 NTRK1 PRKN SNCAIP GABBR2 AKAP9 COL5A1 LEPR GBE1 SLC18A2 CALM2 RET PARK7 MECP2 TUBB3 SCN10A KCNJ5 ATP7A ANK2 PPOX ECE1 HP_EXTRAHEPATIC_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAHEPATIC_CHOLESTASIS CDKN1B SMAD4 TP53 PALB2 PALLD BRCA2 BRCA1 CDKN2A KRAS HP_ABNORMAL_ENERGY_EXPENDITURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENERGY_EXPENDITURE POMC ADRB3 CARTPT ENPP1 NR0B2 GHRL PPARG UCP3 SDC3 NGLY1 ADRB2 AGRP HP_ABNORMAL_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLYCOSYLATION COG2 PMM2 ATP6V1A MGAT2 STT3A DDOST GALNT2 MAN1B1 RFT1 ALG11 DPM3 CCDC115 ATP6V0A2 SRD5A3 SLC35A2 COG6 COG5 COG8 COG1 DOLK ALG8 COG4 STT3B FKTN DPM2 SSR4 SLC39A8 ALG13 ALG6 PGM1 MAGT1 TMEM199 ATP6AP2 MPI DPAGT1 CAD ATP6V1E1 ALG1 ALG3 DPM1 HP_ABNORMAL_PROTEIN_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_GLYCOSYLATION PMM2 ALG13 ATP6V1A ALG6 MGAT2 DDOST PGM1 SRD5A3 GALNT2 MAN1B1 RFT1 MAGT1 COG1 ALG11 DPM3 TMEM199 ATP6AP2 MPI DPAGT1 ATP6V0A2 SLC35A2 COG6 ATP6V1E1 ALG1 COG5 COG8 DOLK ALG8 ALG3 COG4 DPM2 SSR4 DPM1 SLC39A8 HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION COG4 DPM2 DPM3 TMEM199 GALNT2 SLC35A2 HP_DECREASED_URINARY_POTASSIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINARY_POTASSIUM CACNA1S GABRA3 KCNJ18 CLCNKB CYP11B2 SLC12A3 HP_FLAT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FACE PEX11B PAX3 TAPT1 CDH11 PAK3 ADAMTS3 CDH1 MN1 PEX12 XYLT1 WNT5A MAF HSPG2 PRMT7 COL11A1 BPNT2 TMEM70 FAT4 KMT2A LOXL3 SMC3 PEX19 TUBB MAPRE2 CTNND1 PDE4D PEX6 EBP CREBBP SUMF1 ZBTB24 MATN3 SLC39A8 FLNB PEX2 ATRX BRPF1 B3GAT3 SLC26A2 PEX7 TRIP11 DNMT3B PEX10 CCBE1 COL2A1 TWIST1 LONP1 PEX16 COL9A3 PEX1 CAMK2G GNPTAB MAN2B1 FGFR2 CDCA7 B3GALT6 AMMECR1 AMER1 PEX5 PEX26 COL9A1 MYH3 PEX13 DVL1 GPC6 B4GALT7 PPP2R3C GUSB SMC1A EHMT1 GAD1 EP300 CHST3 GATA1 FGFR3 ROR2 PLOD3 FLNA COL3A1 SOX9 PEX3 ATP6V0A2 KIAA0753 DCPS COL9A2 PPP1R12A TBX22 TMCO1 PEX14 HELLS HP_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIANOPIA USH1G TRAF7 TERT MT-TC MT-TS2 NF2 MT-CYB MT-TL1 SMARCE1 USH1C MT-CO3 PDGFB ADGRV1 AIP MEN1 PDZD7 CDH23 PCDH15 MT-TV CLRN1 MYO7A TUBB2B MT-TQ MT-TF CTNNB1 AKT1 CEP78 MT-CO2 BRAF TREX1 MT-TW MT-ND1 CIB2 BAP1 MT-ND5 WHRN SETD5 SUFU MT-CO1 GNAQ PIK3CA USH2A HARS1 MT-ND6 MT-TK ARSG ESPN SMARCB1 SMO HP_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUE PROP1 TPO CD46 PPARGC1A SCNN1G PMS2 STAT5B KRAS TCF3 BTNL2 CPT1A XPC DDB2 ACTC1 HNF1A BCL10 HNF4A STAT4 PSTPIP1 CFI ATRX CDH23 IL23R PTPN22 PIEZO1 UBA1 PML TSC2 COL9A2 HFE LHX4 HBA2 COL9A3 IL18BP BCOR MSH6 PALLD IL12B MEN1 JAK2 TBL1XR1 PHKA2 NLRP3 EPCAM MLH3 ARMC5 CCND1 SLC4A1 IGHM EIF2AK4 RARA TSHR POU2AF1 CD244 OPTN ATP13A2 MT-TK UBQLN2 UBAC2 PHKG2 POMGNT1 POLG2 ABL1 KCNQ1 LRRC8A SLC18A2 MET SLC40A1 MYH7 FIG4 SLC25A11 HLA-DRB1 IL12A COL1A2 GLI2 NNT ALB CCNF STEAP3 MALT1 COL5A1 C4A PON2 MC2R SLC5A5 EPOR COMP NKX2-5 MLX LBR TET2 AIP PDE8B FGFR1 PLEC SLC3A1 COQ2 NABP1 SCNN1A WIPF1 PROKR2 CDC73 CARMIL2 SPIB TBX20 KL VHL BCL2 CCR1 SDHB FTL PTPN3 MMEL1 C1QBP CITED2 TREM2 BLNK PDE11A TWNK PRKAR1A USP8 PIGA GLA TRAF3 PRTN3 TBK1 HBA1 INSR TLR3 FUS TAZ IL12RB1 HESX1 NR3C1 TICAM1 ERAP1 MAX SOX3 BRCA1 BTK CHMP2B HLA-DPA1 ATP7A SLC25A26 ACADM TXNRD2 FOXE1 LHX3 PAX8 SLC26A4 IGLL1 SDHC CTLA4 RUNX1 HLA-B DLST ERBB4 TLL1 MEFV IRF5 TNPO3 FOXA2 HNRNPA1 SDHA CAV3 ERCC4 DCTN1 SYNJ1 NFKBIL1 VCP SQSTM1 GCK BMPR1A CD79A SMAD4 TCF4 MORC2 SLC12A3 KIF1B KIT UNC93B1 FOXP1 MMADHC PADI4 BCR DNM1L NPM1 ZBTB16 PODXL GBA NKX2-1 COL5A2 UNC13A SOD1 EPAS1 STAT3 CHCHD10 GLT8D1 MYH6 POU1F1 TG STAT6 FAN1 DUOX2 TBX19 CDKN2A IL10 SDHAF2 FAS EPHA4 FH TSC1 COL1A1 ABCC2 PYGM TRHR SRSF2 CD79B GATA6 C9orf72 CALR SMAD3 DMD PNPLA8 CCDC78 PFN1 SDHD NLRC4 CFH TSHB IVNS1ABP ASXL1 GPR101 TK2 GCH1 NEK1 NAGS PON3 SLC2A10 XPA TARDBP TNXB DUOXA2 CTNNB1 TNFSF15 COL9A1 OTX2 GATA2 PGM1 NEFH NF1 TAF15 DAO IL12A-AS1 BRCA2 GATA4 CBL SLC22A4 HELLPAR MSH2 IKZF1 MST1 KIF23 TP53 VAPB SCNN1B ERCC3 PYGL DNAJC6 TGFBR2 STAR RET PALB2 WAS GNAS ARNT2 RRM2B IYD SERPINA6 ERCC5 TMEM127 DBH CHRND PRPH SLC18A3 PRKACA DYSF GLE1 MATR3 MLH1 ANXA11 GPR35 MDM4 POLG ELANE DMPK PIK3CA TLR4 DNMT3A MDH2 ERCC2 ALAS2 HAVCR2 PMS1 FGF23 BCL6 SH2B3 PIGT HMGCL NUMA1 AGK ATXN2 SLC11A1 CFAP410 PREPL OPA1 MYD88 KCNE1 MRAP FIP1L1 MPL KLRC4 RPS20 PON1 HLA-DPB1 PIK3R1 SOX2 NAB2 ATM SEMA4A AP2S1 BIRC3 NFKB2 KCNN4 IRF2BP2 TFR2 CIITA PDGFRA ANG SLC25A4 SVIL HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY TP53 RNASEH2B CR2 PIGW VCP CD46 ACADM SLC25A15 TNFRSF11B HNRNPA1 FARSB CCDC115 LARS1 BCS1L ACOX1 TSR2 RAG2 HSD17B10 SAMHD1 PAH CPT1A GPI HNF1A PCCA LARGE1 GLB1 HNF4A HFE MCCC2 APRT PRPS1 NPC2 CYP2R1 PRF1 FAM20C CFI ALG6 RPL15 PSMB8 SP110 CD81 PIEZO1 ABL1 RPS19 SOST CBS ADA2 SLC25A13 GNPTG IL18BP KIAA0586 MTR C8orf37 PALLD VPS13A RPS14 MT-TV JAK2 TANGO2 B3GALNT2 PHKA2 ABCB4 COG2 SLC7A7 ALAS2 POLG2 DMGDH TMEM67 NCF2 G6PC SLC4A1 TWNK GSS MT-ND1 PRKCD GFM2 LHX1 INPP5E PEX16 GALC NGLY1 TRAPPC11 POU2AF1 LIPT1 SLCO1B1 SDHD CASR PRSS1 DAXX CPT2 TNFSF12 PHEX PHKG2 GAA GLRX5 TREX1 POMT2 SLC22A5 CFTR MS4A1 FAH ASPA CNTNAP2 ASL HBB MICOS13 CCDC47 ALG11 CORIN POLG COG7 ACSF3 CYC1 PCCB NFKB1 IARS1 SCO1 ALPL STEAP3 RNASEH2C ENPP1 IRAK1 ALMS1 RPS15A AMACR MT-TK FLT1 IFT172 IFIH1 CYP7B1 CAT SPINK1 RPGRIP1L DPYD TNFRSF13C TET2 TRPV6 PIGB POMK HSPG2 ASAH1 MOCS1 GNPTAB ABCB11 GDF2 FXN PMM2 ELMO2 PGAP2 CTNS F5 PIGA EIF2AK3 SPIB COG5 VIPAS39 FGF23 COG8 HADH CPA1 USB1 PSAP RPL11 MMEL1 SLC30A10 C1QBP COL4A1 OFD1 POLD1 MRPS16 MYC AKR1D1 PIGS SRP54 MT-ND2 PEX13 FAN1 AHCY ATP6AP2 PKLR RPS10 RAG1 FH TNFRSF11A YARS2 SLC34A3 PIGK GBA SUOX PEPD BTD IL12RB1 MPV17 HSD17B4 SIK3 MCM6 SLC25A20 MT-TW MMAA NCF1 PIGY BRCA1 DDOST FBP1 ERCC8 ABCC6 TCIRG1 GPD1 DPM3 RPS24 PNPLA2 SLC35A2 TFAM POMGNT1 RNASEH2A MMACHC RPS28 RB1 LAMB2 PKHD1 DPM2 NFKB2 STOX1 RPL18 NBAS MT-ND5 DLD HLA-B LBR GALT CLPB VDR CTSA IRF5 TNPO3 TNFRSF13B COG4 DAG1 RPS29 FKRP SC5D ACAD9 RPL5 DPAGT1 SLC34A1 ATP7B WDR35 TRMU HJV ADA SMAD4 PLA2G7 TCF4 GNE PPOX BCHE VPS33B TMEM165 FKTN MT-ND4 SLC37A4 PGAP3 SBDS UMPS ALDH2 ERCC4 ERCC6 SPP1 HNF1B NR1H4 UQCRC2 CAVIN1 PIGV GCDH COG6 CYP27B1 BSCL2 PYGL TKFC CEBPE PRSS2 RXYLT1 SLCO1B3 FARSA DLAT ACADVL ADK HAMP CDKN2A OCLN SRD5A3 MARS1 OPLAH DHDDS MOCS2 DNAJC21 USP18 ABCD3 DMP1 LCT RPL35 CALR SGMS2 MTHFR DMD RPL31 DPYS TGFB1 TRMT10C POMT1 CRPPA CDAN1 RBCK1 XDH TYMP ESR1 CFH MAN2B1 ADAR PLEC ATP6AP1 NRXN1 HADHB FKBP10 COX5A FLI1 GATA1 CTRC RPL26 CNOT1 ALDH5A1 ABCD4 BCR BCAT2 PTH1R SLC2A2 ABHD5 MT-ND6 PIGL TNFSF15 MT-TL1 HADHA MT-ATP6 DCDC2 PSMB9 RHAG PGM1 CYBB ATRX STAT4 SUCLG1 ALDOB AGL BRCA2 MRPS28 MYH9 INPP5K MRPL44 HSD3B7 HELLPAR PRDX1 IKZF1 RPL27 MST1 IL12A KIF23 ANO10 CC2D2A CYBA SEC23B SIL1 PIGT SERPINA1 PALB2 GPC1 OGDH GPHN RPS17 RRM2B PRKCSH IDS PLEKHM1 DZIP1L NADK2 NOS3 FADD DGUOK JAG1 PIGQ MMAB PIGO PSMB4 SLC39A4 MVK ZNF687 LMBRD1 GALK1 RPL35A FBXL4 RPS7 MRPL3 BMP2 COLQ MTX2 GPR35 SQSTM1 PEX19 LYST DMPK KRAS MTRR FOXP3 GYS2 MMADHC EFL1 PLA2G6 CYP3A4 IER3IP1 SAR1B ATP8B1 DOLK ATM RINT1 RPS26 NSMCE2 HMGCL GNMT AGPAT2 CSPP1 HNRNPA2B1 DNAJC19 HMBS WARS2 MPL TMEM199 CHEK2 NPC1 MT-ND3 CD19 MTTP POMGNT2 RPS27 CLCN7 KCNN4 B4GAT1 TFR2 PLOD1 CP DPM1 SLC25A4 ICOS HP_LEFT_TO_RIGHT_SHUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_TO_RIGHT_SHUNT MYH6 TBX20 GATA6 CITED2 TLL1 GATA4 THOC6 ACTC1 NKX2-5 HP_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHINITIS NME8 DNAAF5 SPAG1 SRP54 RFXAP RPGR CFAP300 LRRC6 GFI1 DNAH5 RSPH4A TTC12 SPINK5 CCDC151 CARMIL2 CCDC40 HYDIN TCIRG1 CCDC114 CCDC103 TNFSF11 CCDC65 CFAP298 PGM3 LRRC56 DBH EDA SLC29A3 DNAH9 MCIDAS TTC25 ZMYND10 CFAP221 CCNO RSPH9 MS4A2 DNAAF6 DNAI1 SPEF2 COX4I2 DRC1 STK36 RFXANK RAG1 NEK10 DNAAF4 IDUA DNAAF2 ARMC4 SIK3 RSPH1 CLCN7 GAS2L2 DNAH1 GAS8 PLCG2 FOXJ1 PLA2G7 RFX5 DNAL1 DNAH11 DNAJB13 DNAI2 CIITA EDARADD DNAAF1 IL4R RAG2 ELANE SNX10 OFD1 CCDC39 RSPH3 BLM DNAAF3 HP_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHITIS DNAAF5 CR2 TNFRSF13C MAGT1 NBN LRRC6 EGFR ATM HLA-DQB1 CD19 GNPTAB RNF168 CD79A ALMS1 ICOS SERPINA1 MGP CARMIL2 TNFRSF13B IL17RA RAC2 RPGR CACNA1C TNFSF12 DNAAF1 DNAJB13 NFKB2 CFTR IL2RG TAPBP CCDC65 CFAP298 HLA-DQA1 MS4A1 CD81 CCDC151 SCNN1A SPAG1 GAS8 TAP1 NFKB1 ZBTB24 CD79B RSPH4A SCNN1B CRLF1 NOS1 HYDIN DNMT3B ZMYND10 PRKCD BLM SCNN1G ARMC4 TAP2 HP_APPENDICULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APPENDICULAR_HYPOTONIA NRROS UNC80 PRPS1 GNPTAB GBA HP_ANAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_FISSURE COL7A1 EGFR CYBC1 MMP1 ADAM17 HP_HYPOREFLEXIA_OF_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA_OF_UPPER_LIMBS ST3GAL5 MT-TE ACOX1 ATP6AP2 RUBCN RYR1 HP_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGY MTOR PGM3 CNTNAP2 IL6ST SOX6 NRXN1 PLCG2 TGM5 PSTPIP1 IL4R PLA2G7 FOXP3 CCDC28B SPINK5 MS4A2 CSTA CTLA4 COX4I2 CARMIL2 ARL6 FOXP1 CHD1 JAK1 BBS1 ADA RBM8A SIK3 HP_AORTIC_ATHEROSCLEROTIC_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ATHEROSCLEROTIC_LESION APOE LDLRAP1 LDLR CYP7A1 ABCG8 APOB PCSK9 LMNA ABCG5 HP_PERIPHERAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_EDEMA ZNHIT3 TLL1 KIF1A FLNC FSHR TNNI3 MYPN TNNT2 KIF20A HP_ABNORMAL_ALDOLASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ALDOLASE_LEVEL FKTN POMGNT1 POMGNT2 ALDOB TGFB1 INPP5K DAG1 POMK POMT1 LARGE1 HSPG2 FKRP CRPPA B4GAT1 SIL1 B3GALNT2 COL4A1 RXYLT1 POMT2 HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION TBC1D24 DLD OGDH PIGB GLUD1 HP_MEDULLARY_NEPHROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDULLARY_NEPHROCALCINOSIS MAGED2 SLC34A3 TOR1A SLC34A1 FGF23 ABCC6 ENPP1 ADAT3 HP_PURE_RED_CELL_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURE_RED_CELL_APLASIA ADA2 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 EPO RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 RPS15A RPL11 PNP TP53 RPS19 RPS29 RPL18 RPL27 HP_PREMATURE_PUBARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_PUBARCHE MAGEL2 HSD11B1 NDN SNRPN SIM1 OCA2 MKRN3 AIP PAPSS2 TANGO2 MEN1 HSD3B2 HP_PREMATURE_ADRENARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ADRENARCHE NDN MAGEL2 SNRPN SIM1 HSD3B2 OCA2 CYP11B1 USP7 POR HP_ABNORMAL_BLOOD_GAS_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GAS_LEVEL SMPD1 CSF2RA ENG SLC35A1 CSF2RB HBB ABCA3 FGFR3 EDN3 RET CACNA1S ZFPM2 HLA-DRB1 SFTPB GATA6 ASCL1 CNOT1 PHOX2B GDNF BTNL2 RYR1 PTRH2 FBN1 SFTPC HP_OPTIC_DISC_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_DRUSEN MFRP XYLT1 XYLT2 TMEM98 ABCC6 HP_PROMINENT_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_CALCANEUS RSPRY1 DYM SATB2 GFM2 DLK1 RTL1 MEG3 OBSL1 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER KDM1A SLC2A1 CNTNAP2 MT-ND5 TMX2 NRXN1 MT-TW ZEB2 MT-CO3 WARS2 FDXR STRADA MT-TL1 MT-TQ MT-TH NARS1 MT-ND4 PSAT1 MT-CO1 MT-ND6 MT-ND1 NACC1 MT-TS2 MT-TF MT-CO2 HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA NARS1 KDM1A PSAT1 SLC2A1 CNTNAP2 TMX2 NRXN1 WARS2 FDXR STRADA NACC1 ZEB2 HP_CHRONIC_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_FATIGUE MRAP TP53 SMAD3 PALB2 TXNRD2 IVNS1ABP PALLD BRCA2 BRCA1 CDKN2A KRAS SMAD4 EIF2AK4 MC2R TK2 MDM4 NLRP3 STAR NNT HP_ABNORMAL_SOCIAL_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOCIAL_BEHAVIOR NDUFA11 CLIP2 TET3 NDUFS4 VPS13C PUF60 POLA1 FOXG1 RNF113A AP4M1 NEXMIF UCHL1 SHANK3 TIMMDC1 ACOX1 EXTL3 NDUFV1 SPATA5 NDUFS6 DPYD NDUFA13 FMR1 SLC25A12 KANSL1 TOMM40 GABRG2 NTNG1 MECP2 PINK1 FRMPD4 GTF2E2 ALG13 FOXP2 GTF2IRD1 GTF2I NLGN3 AP4E1 ABCC8 GRIN1 NDUFB10 RFC2 MT-ND2 PCDH19 ST3GAL3 EP300 NALCN PIGP MT-ND1 SYNJ1 DLK1 GABRA1 CDKL5 TBL2 JRK SNRPN NRXN1 TWNK ARSA GFM2 NLGN4X SETBP1 GFM1 DEAF1 MEF2C NDUFAF2 APC2 PSEN1 ITPR1 AGTPBP1 CREBBP NTRK2 NDUFAF3 NDUFA1 PSEN2 MT-ND3 LIMK1 GABRB3 NDUFAF5 CNTNAP2 OPHN1 MPLKIP GRIA3 MICOS13 PSAP NDUFS3 ALG11 CUX2 SNCA NDUFB11 NDUFB3 IQSEC2 GABRA2 NDUFA6 CAMTA1 TUBB3 NDUFV2 MED12 COG6 ADSL COX10 RAB11B ABCA7 NDUFAF1 ERCC3 NLGN1 DOCK7 PODXL LRRK2 SLC6A8 FOXRED1 RLIM GPHN SMC1A TSC2 SH2B1 NF1 SMG9 NEUROD2 TMEM126B UBA5 CACNA1H NDUFS1 SYNGAP1 FLCN NDUFS8 RTL1 HTRA2 DNAJC6 AP4S1 HERC1 AP3B2 ERCC2 AP4B1 NUBPL PIGH TARS1 TBR1 RARS1 NONO MFF CLP1 SLC2A1 SETD2 GTF2H5 NDUFB9 KCNT1 MED13L GALNT2 NDUFAF4 SLC25A1 NDUFS7 MEG3 GABBR2 TSC1 ADNP TBC1D23 TREM2 APP BAZ1B C12orf4 ELN IREB2 SYT1 NDUFAF8 EBP PRKN STXBP1 SORL1 CACNA2D2 UGP2 GNB5 PARK7 ARFGEF2 NDUFS2 HP_DELAYED_SOCIAL_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_SOCIAL_DEVELOPMENT APC2 TUBB3 COG6 ABCC8 ITPR1 FOXP2 HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY CLCA4 RPGRIP1L CIITA MST1 IL12A RFXAP TMEM67 CC2D2A ARSA LMBRD1 RNF43 PEX5 GBA DCTN4 INPP5E MKS1 FCGR2A CFTR FARSB RFX5 POU2AF1 GCGR GATA6 RFX6 BCS1L RFXANK TGFB1 NPHP3 SPIB USP9X CEP290 GPC1 PKHD1 LMNA STX1A IL21R POLG PTPN3 MMEL1 DZIP1L CD40LG LBR JAG1 ABCB4 ITCH IRF5 TNPO3 TNFSF15 TMEM216 DCDC2 PSAP STK11 HFE IL36RN SCARB2 PEX2 ERCC4 WDR35 KIF3B ZIC3 LONP1 CLDN1 TTC7A PEX1 TCF4 GPR35 IL12RB1 PHKG2 HSD17B4 HP_BRAIN_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_ATROPHY DCPS CLIP2 NFIX UNC80 PUF60 TRAK1 VCP ACER3 AP4M1 FDXR TINF2 LYRM7 NADK2 BCS1L ATXN7 SLC1A2 C12orf4 SPATA5 BICD2 KCNA1 XPC DDB2 MMACHC CYFIP2 EPM2A GLB1 CTNS PHACTR1 TOMM40 TREM2 PIGQ POGZ GABRG2 DNMT1 SIK1 TBC1D20 HDAC8 FRMPD4 SNRPN GRN FMR1 SBF1 EMX2 GBA2 TGFB1 B4GALNT1 NDE1 CTSD DSE MRM2 ACTL6A NDN WHRN VPS13A FUCA1 ALG3 USH2A HEPACAM TANGO2 RNASEH2B SPTAN1 PCYT2 EPG5 TBL2 MT-ND5 GABRA2 ALG9 WASHC4 TWNK ADPRS SLC45A1 GFM2 NRROS TIMM50 BRSK2 ADGRV1 GRID2 TXN2 COL18A1 PSEN1 MT-ND6 CPLX1 PMPCA SCN1A PYCR2 OCLN ERCC5 MYO5A CARS1 GOT2 KANK1 NUP62 PSEN2 FBXO31 ERCC8 RAB3GAP2 LIMK1 TRAF7 CLPB SHPK SARS1 NHLRC2 GRM7 MBTPS2 SCN1B MT-TL1 ALG11 CLN6 NDUFS2 COG7 CACNA1A GABRD SPECC1L LAGE3 GALC TMEM70 CARS2 ATP13A2 MT-ATP6 ZC3H14 YWHAG DMPK SMC3 MARS2 RAB11A MED12L STXBP1 NSUN2 PTCD3 PIGG KDM5B GRIN2A GRIN1 KIF1C ABCA7 NOVA2 EPRS1 CISD2 MAF KIF7 TYROBP MOCS1 YWHAE GNAO1 GLUL PIGA KMT2E UFM1 KCNB1 HRAS GPKOW PANK2 RHOBTB2 PDZD7 POMT1 POLG CLCN4 MT-TF PCDH15 C9orf72 TUBGCP6 MED25 VPS13C AUH CTDP1 AARS1 TECPR2 NAA10 SERAC1 TRPM3 GRIN2D BSCL2 NTNG2 PIGS PIGL MUC1 WIPI2 PRKAR1B HECW2 PDHA1 MAN1B1 PQBP1 AP4S1 RTEL1 RAB23 ACTB EXOSC3 EDC3 PPP2R2B MAP2K1 L2HGDH FASTKD2 PRNP PAFAH1B1 B3GLCT ERCC2 AP4B1 AIFM1 ESPN DNM1L TARDBP GTF2H5 NUS1 NDUFA11 RAB3GAP1 TPP1 PGAP2 EXOSC8 KCNT1 SIX3 KIRREL3 HACE1 OCA2 ST3GAL3 PLA2G6 NDUFB8 NSD1 RNASEH2A GABRA5 FA2H SERPINI1 EEF1A2 KMT2D PSMD12 SET COG5 WDR81 RSRC1 BMP4 SHH RNF113A ELN CIC TRNT1 STAG1 MT-TW AIMP1 COG4 ACTL6B SC5D COQ9 TBCK ERCC4 SYNJ1 KIDINS220 ROGDI WDFY3 NKX6-2 TSEN2 TRAPPC9 TRAPPC6B MORC2 RERE PLPBP SCN9A KCNMA1 NUTM2B-AS1 CLN8 SURF1 NTRK2 ERCC6 PODXL COX4I1 ACO2 FTL SLC25A15 MBOAT7 DNAJC3 PIGV GCDH USP9X ABCD1 VPS35 MYT1L PIGN CLIP1 VPS53 POLR3A NANS TRMT1 MBD5 GABRB2 NDST1 SRCAP CACNA1B JPH3 MED23 TBC1D24 ADK SLC33A1 ALG13 MED13 FOXP2 GTF2IRD1 SZT2 CRBN TMEM106B CSNK2B AP4E1 ATAD1 IKBKG TRRAP RFC2 DARS2 MTHFR GLYCTK ATP6AP2 MT-TS2 DNM1 DYRK1A PPP3CA ADAR KIF1A PGAP1 ALG14 DDX6 LIPT2 STX1B PRKDC ZMIZ1 BCAP31 HCN1 CDK19 SON ABCD4 SLC39A4 RFT1 SETD2 METTL23 POLR3B ADAT3 EIF4G1 DHX30 EPB41L1 NEUROD2 TRAPPC4 GDAP2 SCN2A SUCLG1 SYNGAP1 ADSL USH1G EIF2AK2 NAGA ERCC3 ZNF592 DOCK7 SLC35A2 CC2D1A HSD17B10 NDP KRAS QARS1 TBCD CASK TRIM8 STUB1 PLAA SVBP ATRX ACTG1 NHLRC1 TREX1 MOGS ATP8A2 SLC13A5 MT-TQ ZC4H2 NIPBL HERC1 PRDM16 GRIA4 SLC39A8 MVK ZNF335 TARS1 PEX19 LYST RLIM ARX NEK1 TRAPPC2L RNF216 TSEN15 WDR73 CIZ1 RNU4ATAC FLI1 IBA57 COX8A LMNB1 NALCN TOE1 FARS2 APP BAZ1B TBK1 MAGEL2 SLC12A5 WARS2 WFS1 PUS3 TRIT1 TIMM8A TCTN3 RMND1 PIGU KLHL7 PCLO TK2 STAMBP DKC1 DHDDS IQSEC1 ARV1 IFIH1 SQSTM1 HTT PCK1 FBLN1 ELOVL4 SCYL2 LONP1 TP53RK KCNQ2 FARSB SAMHD1 FUS ZNHIT3 GMPPB MT-ND1 FGFR1 SLC35C1 CYB5A ZMYND11 GNAQ SUMF1 NECAP1 FBXW11 SPG7 MYO7A CPA6 TAOK1 NEXMIF ALDH18A1 GTF2I SCN8A MPDU1 SETBP1 TSEN54 DHFR FRRS1L MTR TDP1 MT-CO1 ASH1L PLK4 SLC17A5 NACC1 PRUNE1 CRADD AP1S2 AGA COG2 SPG11 CHMP2B DEAF1 DOCK3 PCDH19 MAG LHX1 GFM1 SLC25A22 NGLY1 TRAPPC11 SMC1A DYNC1I2 SACS RAB18 CNTNAP2 GRIK2 MPLKIP IRF2BPL NTNG1 TCF20 SLC39A14 BRAF SCN3A CCDC47 MAPT PSPH CDH15 KCNA2 PURA CIB2 NOTCH3 SCO1 RNASEH2C YME1L1 HIVEP2 ASPA LRRK2 DOCK8 CAMTA1 UBTF CDKL5 GBA POMT2 DPYD MED17 TBP SLC2A3 NAXD CLTC CACNA1E MTRR PSAP SMG9 EHMT1 LARGE1 ITPA UBA5 NDUFAF3 DYNC1H1 SLC1A4 MT-CO3 AMPD2 PEX7 OSTM1 SLC5A6 GUF1 KCNAB2 GJC2 SNX14 UBE3A DMXL2 CHCHD10 ACD REPS1 BTD HNRNPA1 LMAN2L HSD17B4 YIF1B ST3GAL5 GRIN2B KCNQ5 SPG21 CAMK2A MAN2B1 PPT1 HTRA2 PDHX OSGEP SLC9A6 OTUD6B RALGAPA1 CNKSR2 ATP6V1A EXOC7 GABRA1 COG1 TECR ADARB1 MT-ND4 PARS2 PIGT UGP2 RAD21 PIGC EXOSC9 FKRP RPS6KA3 MFSD8 HNF1B CTSF KDM6A COG6 DOCK6 DNAJC13 AP3D1 NAXE ASXL1 PARN VPS33A WWOX MAPK8IP3 GTF2E2 LIAS TERT ACY1 NDUFV2 MOCS2 GM2A TANC2 CACNG2 TRMT5 CYP27A1 PRSS12 NDUFA9 CDH23 SEPSECS PNKP COLGALT1 MEF2C ASAH1 CAMK2B FMN2 SLC2A1 NRXN1 NARS1 USH1C ATN1 SETD5 NDUFA2 TRAPPC12 SKI GLE1 XPA POLA1 GAD1 OPHN1 ALDH7A1 TMCO1 MT-TH KCTD7 AIMP2 ALG1 PCCA GRIA2 PRDX1 MAP2K2 CYB5R3 DNAJC6 FGF12 PDE6D CNTNAP1 MECP2 FGFR3 EMC1 GPHN PIGP HNMT RNF125 TAF2 FADD EXOC8 DGUOK DALRD3 B3GALNT2 TUSC3 APC2 SUCLA2 TNIK EZR AP3B2 FBXL4 TTC19 KMT2A SNCA LINS1 NDUFS1 RARS1 CLN3 NUP214 CLP1 NDUFV1 PNPO UCHL1 FH IARS2 HUWE1 MMADHC CDC42 BPTF TPRKB DOLK RARS2 TUBGCP4 ADNP OPA1 BCORL1 WDR45 HNRNPA2B1 TMX2 GIGYF2 PEX16 CUX1 CAD RTTN CHAMP1 SORL1 VARS1 ATXN2 PCCB ALS2 TCF4 ERCC1 MT-CO2 SCO2 HIC1 HP_ABNORMAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELINATION RNASEH2B KDM1A NDUFS4 ARV1 HSPD1 NDUFA4 PIGW TUFM TRAK1 NDUFA13 ACER3 MCOLN1 GNB1 YY1 SMPD4 ELOVL4 ERCC3 FDXR ADGRG1 KIDINS220 GABRG2 SHANK3 NADK2 PRPS1 ACOX1 SLC1A2 NDUFV1 ATP7B TRMT10A SPATA5 FCSK SAMHD1 KCNA1 MMACHC MT-ND1 NDRG1 CYB5A PHACTR1 PIGQ LITAF MRPS22 SOX10 SUMF1 SELENOI PAK1 NECAP1 SIK1 TAF13 POLR3B PRF1 PYCR2 NUBPL ARSA UPB1 FAM126A FRMPD4 SP110 ISCA2 PET100 SBF1 SCN8A HTRA1 ABAT ASXL1 TGFB1 NDUFB10 WARS2 DHFR BRAT1 MPZ MT-CO1 MT-ND2 NDUFA12 VPS13A EP300 DCAF8 NACC1 MT-TV GAN CLTCL1 SACS HARS1 SURF1 PRUNE1 POU3F3 PDHA1 SPTAN1 MT-ND5 GABRA2 ALG9 COX7B PRX NRROS GFM1 EGF GALC SLC25A22 PMP22 NGLY1 TRAPPC11 TBC1D24 LMX1B NDUFAF2 RAB3GAP2 LIPT1 CSF1R TXN2 EIF2B2 MLYCD PPP1R15B MT-ND6 UFC1 EGR2 CARS1 NTRK2 HIKESHI NDUFA1 PLAA ERCC1 EIF2B3 ERCC8 MT-ND3 C2CD3 SHPK MPLKIP RNF13 NDUFAF3 GRM7 SCN1B MT-TL1 SCN3A SIGMAR1 FOXG1 ALG11 C12orf65 NDUFS2 KCNA2 PURA POLG COG7 SNIP1 GAA CACNA1A DHX37 NARS1 NARS2 DALRD3 GMNN RNASEH2C ASPA NDUFA6 NDUFA9 COQ7 SH3TC2 MT-TK CDKL5 YWHAG IFIH1 RAB11B TREX1 SBF2 GRIN2A KIF1C NDUFAF1 EPRS1 GDAP1 TYROBP LAMB1 MOCS1 CNTNAP1 ARF1 PMM2 PGAP2 GLUL GLRX5 PIGA ECHS1 FOXRED1 PMP2 COG5 KCNB1 RHOBTB2 POLR3A MTRR RFC1 MADD ALS2 SMG9 SLC30A10 MT-TF TMEM126B ITPA ERCC2 STXBP1 UBA5 PNPT1 AARS1 FGD4 UGDH GRIN2D PKDCC FLCN RETREG1 DHH MT-CO3 PEX7 NDUFAF6 CREBBP HK1 PHGDH UBE3A PEX13 AHCY SCN2A GNAO1 TACO1 GJC2 NEFL ACBD5 SLC16A2 L2HGDH FLVCR1 DMXL2 D2HGDH DCX PSAP MPV17 ABCA1 SYNJ1 HSD17B4 YIF1B IDUA GTF2H5 NDUFV2 NUS1 SLC2A1 MT-TW NDUFS7 EXOSC2 MAN2B1 KCNT1 DDOST HACE1 SLC25A1 SLC19A3 SLC35A2 NDUFB8 ERCC5 RNASEH2A PLEKHG2 GABRA5 FA2H NDUFAF4 DAG1 ASNS FIG4 WDR26 KLC2 SDHA RNASET2 GEMIN4 CNKSR2 PPP2R1A BMP4 ZFR SLC12A6 PIGG TRNT1 AIMP1 NTRK1 ATP6V1A NDUFAF5 PRMT7 CTNNB1 IREB2 ACTL6B ADARB1 ERCC6 MT-ND4 PARS2 SOX3 AIFM1 KIF5A LRPPRC DNM1 NKX6-2 SCN9A NGF MORC2 NDUFA2 HLA-DQB1 AFG3L2 NDUFA11 SPG11 MARS1 MAT1A EIF2B1 PGAP3 RNF113A ACO2 COX14 DNAJC3 PIGV TIMMDC1 ABCD1 NDUFS6 CTC1 KIF1A AP3D1 VPS33A WWOX SLC25A12 TKFC MAPK8IP3 NDUFA10 GABRB2 ZNHIT3 RAI1 POLR2A FUS PGM3 PLP1 SLC33A1 NUP188 GTF2E2 LIAS INTU SZT2 FLRT1 ACY1 POGZ PC POLR1C DNM2 MOCS2 OSTM1 TRRAP TRMT5 DARS2 GLYCTK JPH1 AHDC1 MT-TS2 ADAMTSL1 MTTP PDCD1 SEPSECS PNKP HNRNPU PPP3CA TYMP MTHFS ADAR SPTBN4 CLTC PGAP1 PDYN ALG14 LIPT2 TIMM22 LMNA ARHGEF10 PRKDC ZMIZ1 KCNJ10 GNB4 BCAP31 PIGN PSAT1 ZNF335 HCN1 CDK19 CNOT3 TAF2 INSR SYNGAP1 GTPBP3 ALDH5A1 PEX1 TMEM63A ISCA1 TUBB4A PIGL ELP1 TFG BOLA3 MT-ATP6 ADAT3 DHX30 NDUFS3 PLEKHG5 NEUROD2 NDUFS8 MT-TH NDUFB11 VPS11 NDUFS1 NDUFB3 INF2 AIMP2 DNMT1 SATB2 RERE HSPB8 ADSL MFN2 CTDP1 PPP2CA COX6B1 GFAP CYB5R3 MANBA EIF2AK2 ERCC4 UBTF BAG3 WNK1 FGF12 HLA-DRB1 MME TRIM2 SLC6A8 QARS1 EIF2B4 GPT2 ALDH3A2 TBCD PIGP DARS1 COX6A1 TRIM8 NR2F1 GJB1 EXOC8 DDX6 MDH2 ALG13 BRPF1 TMTC3 SLC13A5 RAB7A MTFMT SLC1A4 MT-TQ ZC4H2 EIF2B5 AP3B2 FBXL4 TMEM106B PIGY DEGS1 COPB2 CLCN4 CNNM2 TARS1 RARS1 COX15 MMUT KIF1B PEX19 CLP1 TBCE NDUFB9 GLS ALDH6A1 TRAPPC2L RNF168 IER3IP1 TPRKB CYFIP2 IBA57 APTX SETD1A LMNB1 CASK DYRK1A CACNA1B RRM2B ZFYVE26 PIGO MTMR2 ARX DHX16 SLC12A5 EDNRB EEF1A2 SNORD118 PEX16 SYT1 KMT2E SPTLC1 NDUFAF8 FOXP1 RMND1 ATXN2 GCDH PIGU OCA2 STAMBP TREM2 GATAD2B MT-CO2 ARNT2 RBM8A SCO2 DHDDS HP_DELAYED_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MYELINATION KDM1A GNB1 YY1 FOXG1 ELOVL4 FDXR PPP1R15B SHANK3 PRPS1 PIGV TXN2 TRMT10A KCNA1 AP3D1 VPS33A WWOX TKFC MAPK8IP3 CYB5A PHACTR1 PIGQ MRPS22 POLR2A PAK1 SIK1 TAF13 UPB1 FRMPD4 NUP188 FOXRED1 HACE1 ACY1 POGZ ASXL1 TGFB1 WARS2 DHFR BRAT1 TRRAP PURA TRMT5 GLYCTK EP300 AHDC1 NACC1 CLTCL1 PRUNE1 ADAMTSL1 POU3F3 SEPSECS PNKP HNRNPU PPP3CA MTHFS NTRK2 PGAP1 ALG9 ALG14 COX7B LIPT2 RNF13 TIMM22 PPP2R1A NRROS GFM1 ERCC6 SLC25A22 ZMIZ1 NGLY1 TBC1D24 LMX1B PIGN LIPT1 PSAT1 ZNF335 MLYCD CNOT3 UFC1 TAF2 ALDH5A1 CARS1 TMEM63A HIKESHI ISCA1 PLAA ADAT3 DHX30 SCN1B CDK19 ALG11 NEUROD2 COG7 VPS11 DHX37 NARS1 SATB2 GMNN CDKL5 RAB11B PPP2CA CYB5R3 EIF2AK2 ARF1 SLC35A2 PMM2 PIGA SLC6A8 COG5 RNASEH2C RHOBTB2 PIGP MTRR MADD SMG9 TRIM8 NR2F1 EXOC8 ITPA UBA5 DDX6 PNPT1 MDH2 ALG13 UGDH PKDCC FLCN SLC13A5 PEX7 CREBBP UBE3A ZC4H2 AHCY SCN2A GNAO1 FBXL4 SLC16A2 DMXL2 COPB2 CLCN4 RERE STXBP1 D2HGDH DCX MMUT CLP1 TBCE SLC2A1 GLS EXOSC2 MAN2B1 PHGDH KCNT1 ALDH6A1 TRAPPC2L SLC25A1 IER3IP1 ASNS SETD1A CASK GEMIN4 BMP4 ARX TRNT1 SLC12A5 PRMT7 CTNNB1 IREB2 SYT1 ACTL6B KMT2E ADARB1 FOXP1 RMND1 AIFM1 GCDH KIF5A PIGU KIDINS220 OCA2 STAMBP GATAD2B ARNT2 RBM8A HP_CHRONIC_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_CONSTIPATION SH2B1 OTUD6B PCGF2 TBCD SLC12A2 NRXN1 USP7 ODC1 MEFV NGLY1 ATRX MADD MLYCD COL5A2 VPS35 DNAJC13 SETD1A ELN ADNP MLXIPL CREBBP RAI1 TRIO MAGEL2 B2M CNTNAP2 EP300 GIGYF2 SPOP PSMB8 CNP MSL3 EIF4G1 POGZ COL1A1 UBE2A MNX1 TANC2 FGF12 SETD5 COL5A1 UGP2 SMO SNCA LRRK2 TNFRSF1A GATAD2B GBA RORA ADAT3 MED13 WASF1 HP_RESTLESS_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESS_LEGS LRRK2 PRKN PINK1 FTL VPS13C PARK7 UCHL1 HTRA2 MFN2 DNAJC6 SYNJ1 SNCA PODXL ATXN7 HP_INFANTILE_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_SPASMS MT-ND4 DMXL2 FBLN1 STRADA PHACTR1 PTPN23 LONP1 DOCK7 GCDH SPATA5 KCNA1 MECP2 BTD GRIN1 SMC1A MMACHC TSC2 PIGP VPS53 ZNHIT3 MAPK1 TSEN15 HIBCH STXBP1 TRIM8 PIGQ PAFAH1B1 NTNG1 SIK1 SLC25A10 ARX IFNG ALG13 SEPSECS ACTL6B SCN2A SLC1A4 MT-ND2 PDHA1 TUBA8 GRIN2B SLC25A22 NTRK2 CLCN4 MT-TV DCX GUF1 PNKP ASAH1 TSC1 GNAO1 KIF1A CDKL5 MT-TW PLCB1 NDUFAF8 RNF13 MT-ND1 NGLY1 TSEN2 PIGA SLC35A2 GABBR2 APC2 CNPY3 WDR45 ADGRG1 CDH2 CASK RALGAPA1 TSEN34 TSEN54 MT-ND5 SPTAN1 SLC19A3 MT-ND6 MT-TL1 MT-ATP6 DHX16 SRPX2 SCN1B CDK19 FOXG1 HK1 NEUROD2 PI4KA DHX37 TANGO2 MT-ND3 MT-TK ST3GAL3 HP_THICK_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_VERMILION_BORDER CLIP2 NFIX APC RPS6KA3 SOX4 TCF4 ACER3 YY1 PTDSS1 AGA ATRX KCNH1 DMD AP1S2 LTBP3 ACSL4 ARID2 RRAS2 ABCC9 DOCK7 SH3PXD2B NRAS GDI1 RASA2 NAA10 USP9X RNU4ATAC HNRNPH2 PIGL ARID1B AMMECR1 KIF15 AMER1 MLXIPL VPS33A FIBP NANS KDF1 RAF1 IDS KAT8 OFD1 ANKRD11 CDH11 PYCR2 NOG COL11A1 TBC1D24 ADAMTS2 SETD1B PSMB8 ARHGEF6 GTF2IRD1 ARID1A GTF2I ADAM22 THOC6 MOCS2 NSUN2 CDT1 KCNJ8 RFC2 FUCA1 AFF2 VPS51 DLG3 ORC4 XYLT1 SOS2 PHGDH CDKL5 SOX18 ORC6 TBL2 RBMX EDAR ECM1 DENND5A A2ML1 SNX14 RSPRY1 MAN1B1 GPR101 SOS1 UPF3B SMARCE1 MED12 ADNP CDC6 KDM6B FOXP1 FBN1 SMARCC2 KCNE5 SMARCA4 IQSEC2 NAGA NF1 WDR26 SHOC2 C12orf57 ORC1 IDUA HRAS OBSL1 INSR LIMK1 FTSJ1 RET STRADA SET GRIA3 TRIO BRAF CBL KCNN3 COG7 CYP24A1 BRCA1 GMNN SMS RPS7 KCNK9 MRAS FLNA CAMTA1 DLK1 COG6 EDARADD STAG2 LARP7 KIFBP AIP MOCS1 CNTNAP1 DPF2 TWIST2 ZNF81 SLC35A2 SIN3A CUL4B PAK3 GPC4 SYP MECP2 SMG9 TONSL PUS7 SMARCA2 MID2 P4HTM SOX11 PTPN11 UGDH EDA ERMARD TOE1 GLA AGTR2 ZNF711 ZEB2 HECW2 SMARCD1 MEG3 CNKSR2 ERF NEU1 RTL1 ATP6V1B2 KRAS ZBTB20 PPP1CB ANTXR1 KIF11 TFAP2B EHMT1 SRD5A3 CLCN4 ADAT3 NONO ALG13 EIF2S3 GNS ZNF41 KREMEN1 GALNT2 TRAF6 DYRK1A PTCHD1 DEAF1 TSPAN7 AP4S1 RAB39B TSPEAR MADD SLC9A7 AUTS2 FRMPD4 KMT2C ELN USP27X ARX RRAS CXorf56 BAZ1B CDC45 TASP1 RIT1 CIT SC5D MYCN CUL7 LZTR1 MCM5 TBCK IL1RAPL1 FRMD4A CWC27 RIN2 HCFC1 EBF3 SMARCB1 PSAT1 RNF135 SEC31A HP_ECLABION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLABION KCNMA1 ALOX12B CLIP2 IFT43 ALOXE3 KIFBP RPS6KA3 KMT2C MGAT2 AP4M1 SULT2B1 SCARF2 PITX2 HSPG2 IFT122 QRICH1 ABCA12 DOCK7 REV3L ABCC9 ATRX FGD1 NAA10 MED25 ASXL3 MED13L NRAS SETD1A TGM1 SMG9 FBXO11 EHMT1 KANSL1 PUS7 CREBBP WDR35 SMARCA2 RAB3GAP2 OCRL FOXC1 TBC1D24 ADAMTS2 EDA LIPN SOX11 GTF2IRD1 WDR19 GTF2I ZSWIM6 ERCC6 MSX1 AP4E1 AP4S1 RPL10 CUL7 FBXL4 RFC2 BCL11A SLC25A24 AP4B1 RAI1 GBA TFAP2B SALL4 RAB3GAP1 EDARADD CYP4F22 KCNH1 CLIC2 PHGDH CDKL5 TBL2 EDAR TFAP2A SNRPN PLXND1 CHAMP1 MAN1B1 MAFB PAX6 SPECC1L OBSL1 ADNP IFT52 MCOLN1 NIPAL4 FHL1 FOXG1 FRMD4A BDNF MED12L CHN1 ERCC5 WDR26 WT1 MDH1 KCNK4 IDUA BMP2 NFIX BAZ1B LIMK1 ABHD5 ELN EDA2R EDNRA HRAS EEF1A2 DHX30 CCDC8 HGSNAT ANTXR1 MYCN IGF1R ERCC2 SMS MECP2 TBL1XR1 RIN2 MYO18B MAP1B ERCC1 MBD5 PSAT1 SDR9C7 POMGNT1 HP_TONGUE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_ATROPHY FRG1 EXOSC3 NOP56 SLC52A3 SH3TC2 PANK2 KY GSN MORC2 HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY ZAP70 PIK3CD WAS MAGT1 CD247 CASP8 RASGRP1 PRKCD CASP10 FAS CARMIL2 COG6 LRBA RAC2 CD70 IL2RA KNSTRN ADA SLC35C1 CARD11 CTPS1 FASLG HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY ALX4 EDN1 GNAI3 PLCB4 MSX2 EPHB4 HP_PANNICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANNICULITIS RNASEH2B ADAR PSMB8 RASGRP1 PSMB9 OTULIN PSMB4 RNASEH2A TREX1 LCK CASP10 HAVCR2 FAS MEFV SAMHD1 PRKCD RNASEH2C MYSM1 ADA2 KIF11 IFIH1 FASLG HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER INPP5E KIAA0586 TMEM216 LAMA1 CSPP1 ABCD1 CEP290 SACS TMEM67 NPHP1 AHI1 FLI1 HP_ABNORMALITY_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PITUITARY_GLAND NODAL CYP11A1 ANOS1 PUF60 CDKN1A WFS1 FSHR PROP1 POLA1 FOXL2 NANOS1 PRKAR1A HESX1 DLL1 LARS2 SMARCE1 PMS2 AIP LHX4 FANCI KRAS ERF SIX3 KMT2A DISP1 PROKR2 THOC2 NR5A1 KANSL1 CYP11B1 IL17RD MAGEL2 CTNNB1 SNRPN ROBO1 CDH23 PSMB8 CDKN1C ABCC8 GHRHR NDE1 MSTO1 NDN MSH6 GNAS MT-ATP8 SEMA3E MEN1 SMC1A SMARCB1 DMRT3 EPCAM SHH COG2 MLH3 SLC7A7 BRCC3 XRCC2 NFKB2 STAG3 GAS1 ADNP RFWD3 GATA4 LHCGR TSHR NKX2-1 HERC2 BICC1 CDON FGF8 IDH2 PWAR1 WASHC5 PTCH1 AKT1 GRM7 TDRD9 DCAF17 GLI2 SMARCAL1 MCM8 GMNN PITX2 ALMS1 GPR101 KISS1R NPAP1 PKD2 YY1 SNORD116-1 ZIC2 SOX3 TEX15 TDGF1 TRAF7 GMPPA BNC1 PSMC3IP DCC TP63 EIF2S3 FGFR1 TRAPPC11 SIN3A PMM2 SIX6 TGIF1 SEMA3A TSC2 MKRN3 SNORD115-1 FIGLA FMR1 MADD MARS2 POMC ALX3 USP8 CDKN2B FANCM ZFPM2 VANGL2 WDR11 DHX37 SUFU POLR3A SLC16A2 POLE KATNIP B3GLCT SMO NR0B1 VAMP7 SRY NONO NSMF ZSWIM6 APC AAAS PKD1 SOX9 NF2 SOHLH1 MEIOB OCA2 HS6ST1 SLC35A2 LEPR KCNJ11 AR CBX2 ACP5 ADGRG1 TACR3 HSD17B4 BMP4 IDH1 LHX3 PDGFRB FOXA2 CYP17A1 SRPX2 BRAF IGF2 NDNF SYCE1 EDA GHSR BMPR1A MAP3K1 PCSK1 TMCO1 RRM2B TBX3 HPGD NUP107 GLI3 ZMYND15 FGF17 CDKN1B HFM1 SBDS FLNB ERCC6 POU1F1 WT1 FEZF1 FARSA FAN1 SRD5A3 PDE4D DUOX2 CNBP TBCK RBM28 RRAS2 BAP1 ZNF148 POLR3H SPIDR TEX11 STAT5B DYRK1A ESR1 MT-TL1 GPR161 HSD3B2 SLCO2A1 SYCP3 FOXH1 GDF9 PDGFB CHD7 STAG2 SIM1 SOX2 GH1 CYB5A POU3F4 SRP54 GANAB OTX2 ADAT3 BTK TBX2 KLHL10 MSH2 CCDC141 MED12 VPS13B TERT THRB TBL1X TGFBR2 LEP STX16 IARS2 CDKN2C PNPLA6 GPC1 PREPL ARNT2 RNPC3 HBB SLC29A3 DMXL2 TAF4B GAN DNAJC21 POR PRLR MTHFR MLH1 TMEM67 CEP57 WDR4 FSHB TBCE DMPK PIK3CA SECISBP2 UCP2 EFL1 PMS1 PWRN1 GATA6 SOX10 BMP15 AVP NSMCE2 TSC1 TBX19 APOA5 AFF4 PPP2R3C EDA2R FLRT3 ESR2 DUSP6 IRS4 PAX8 SPRY4 RPS20 CFTR MRPS22 PROK2 PI4KA DHH TEX14 SEMA4A TP53 WWOX HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND MAGEL2 COG2 TRAF7 CTNNB1 TERT AKT1 CDH23 NF2 HS6ST1 SMARCE1 BRAF NDE1 PDGFB BAP1 SIM1 SUFU PIK3CA GHSR NFKB2 MED12 SMARCB1 SMO FGF8 HP_SMALL_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PITUITARY_GLAND MAGEL2 COG2 HS6ST1 SIM1 MED12 NDE1 FGF8 GHSR HP_METAMORPHOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAMORPHOPSIA ABCC6 PRRT2 BEST1 SF3B1 PRPH2 BAP1 GNAQ SCN1A ENPP1 CYSLTR2 CACNA1A ATP1A2 GNA11 CRX HP_TEMPORAL_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_OPTIC_DISC_PALLOR DNM1L CYP1B1 MAG MYOC OPA1 HP_LOWER_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_PAIN MATN3 COMP ERLIN1 BSCL2 MT-TK PRKRA ACP5 COL9A1 KRT17 KRT6B SPG7 NLRP12 MT-ATP6 MFN2 TGFB1 KRT6A COL9A2 RASA1 KRT16 ALDH18A1 COL9A3 COL2A1 HP_HIP_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_FLEXOR_WEAKNESS AK9 GNE MUSK CHRNA1 MYOT AGRN RAPSN LRP4 COL13A1 CHRNE CHRND SCN4A CHRNB1 FLNC DOK7 HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY ANGPTL6 TGFBR3 THSD1 COL3A1 ENG HP_PERIVASCULAR_SPACES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVASCULAR_SPACES HTRA1 NGLY1 CNTNAP2 DCX ODC1 PAFAH1B1 NRXN1 HP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN TP53 NOD2 CLIP2 CR2 JAK2 COL2A1 VCP CDKN1A PCSK9 C11orf95 PPARGC1A PRKG1 DDIT3 HLA-DRB1 PMS2 CFTR KRAS BTNL2 DIS3L2 XPC DDB2 SCN4A BCL10 PLN STAT4 PSTPIP1 MT-TK IL23R F12 CTRC PIEZO1 MT-TE UBA1 HTRA1 TSC2 SMAD3 POMT1 DSE GNPTG MYF6 MSH6 HPDL UFSP2 NLRC4 TBL1XR1 PHKA2 MSTO1 NLRP3 EPCAM FDX2 ABCB4 MLH3 TBL2 SPTB POLG2 AMPD3 RARA GP1BB NKX2-5 MYH11 EPB41 IL2RA CD244 SDHD NRTN POLE SLC34A1 COL17A1 UBAC2 BICC1 CASQ1 TREX1 IDH2 FUS LACC1 LIMK1 MET AKT1 ANO5 WNT1 DNASE1L3 HGD FIG4 SLC25A11 CLCN7 CORIN TRPS1 POLG TGFB2 CCNF MALT1 EWSR1 IRAK1 IL2RB CPT2 SNX10 C4A BAP1 PON2 TRPV4 EPOR SPINK1 MLX TNFRSF13C LBR ENG TET2 AIP HSPG2 PTPN22 MVK NABP1 WIPF1 CDC73 KIT COMT FGF23 MYBPC3 MINPP1 CCR1 FTL DLEC1 GNA11 TYROBP PRKAR1A ABCG8 ENPP1 CAT GLA SMAD4 HPGD GDNF FERMT3 SEMA3C PRTN3 TREH BRCA2 TNFRSF11A BMPR1A SLC34A3 CD247 EXT2 PRKCSH HBB MCM6 TRAPPC2 PKD1 HMBS ERAP1 BRCA1 NF2 GATM COL7A1 SERPING1 PNPLA2 HLA-DPA1 DNA2 ANK1 ACADM RNF6 TXNRD2 RB1 TNFRSF1A LDLR NFKB2 STOX1 SDHC CAV3 RUNX1 HLA-B DLST IDH1 HABP2 VDR PGAM2 MEFV TGFBR1 ELN ENO3 COL11A2 PRKRA HNRNPA1 SCARB2 C1S AMPD1 ERCC4 DCTN1 LPL SQSTM1 CLDN16 LMNA STIM1 SLC12A3 MFN2 KIF1B SRP54 STK11 DNM1L CPOX POMP HLA-DQB1 TGFBR2 CAVIN1 CDKN1B MTMR14 SPTA1 CASR F8 EPAS1 STAT3 UFD1 TCIRG1 CYP27B1 ACTG2 PTPN2 TNFSF11 GNAS TNXB TRIM28 FAN1 VSX1 TNFSF12 SDHAF2 FAS GTF2IRD1 CD55 EPHA4 OPLAH TSC1 ABCC2 PYGM IL6 DMP1 SRSF2 RFC2 DMD TGFB1 CRLF1 MYH7 CCDC78 RBCK1 ANKRD55 HPS1 TYMP ESR1 CFH LPIN2 ASXL1 HADHB GNAQ TK2 FLI1 PDGFB NEK1 TMEM126B NDUFAF6 PON3 REST TRPA1 SDHA COL9A1 COL8A2 PSMB9 NEFH CCR6 ZNF469 DAO RIPK1 ALDOB IL12A-AS1 SCNN1B CBL JMJD1C HELLPAR SLC40A1 IKZF1 SMO SAA1 VAPB CYP19A1 ERCC3 RET GCGR CHST3 STX16 CDKN2C WAS MPL HADHA LDLRAP1 PLEKHM1 SEMA3D ERCC5 MMUT KRT17 PSMB4 MIEF2 ZNF687 KRT16 FOXE3 CAPN3 MYL2 SPAST ORAI1 GLE1 TGFB3 DYSF MLH1 COL4A6 MME ELANE DMPK PIK3CA MDH2 ERCC2 RAD51 ARVCF SCN5A PRNP SLC39A14 SLCO2A1 NUMA1 ADA2 ATXN2 RRM2B GUCY2C CFAP410 CYSLTR2 CALR BAZ1B ATP8B1 MRAP ECE1 FIP1L1 KLRC4 PON1 NGLY1 VHL TBX18 BVES CD19 FKRP ACADVL SEMA4A BIRC3 CRPPA IRF2BP2 PHEX ANG SLC25A4 ICOS CASK CD46 GFI1 TBX1 SMARCE1 SEPTIN9 ABCG5 STAT5B EPB42 KY HFE SCN9A APRT DGUOK CYP2R1 SCNN1A DCC SEC24C CFI PSMB8 OTULIN CD81 GTF2I PML COL9A2 ATXN3 COL9A3 NTN1 MATN3 BCOR FHL1 PALLD IL12B HARS1 COL11A1 SMARCB1 OVOL2 FBN1 MYLK WWOX RYR1 ALAD TNFRSF11B SLC4A1 SOX10 RELA TRAPPC11 SCN1B SCN11A OPTN MAFB PRSS1 MLYCD LMNB2 DAXX G6PD UBQLN2 CTSK COMP COL3A1 PHKG2 SFRP4 AGXT MFAP5 MS4A1 TRIP13 IL12A EDN3 NNT RNASEH1 NFKB1 GPC3 BIN1 COL5A1 SLC26A2 PKD2 COQ7 FSHR MC2R FLT1 TRAF7 MAT2A TBX6 CHST6 GBA PGK1 CTNS MIF F5 PRDM5 CEL FOXE1 CPA1 PTPN3 TREM2 TWNK PTPN11 USP8 MT-TL1 PKDCC CDKN2B PIGA MYC LEMD3 ABCB11 TBK1 SUFU POLR3A SDHB NOS1 FMR1 CA2 DLL3 APC MAX PIGY CHMP2B IL1RN ABCC6 DPM3 PPARG SLC25A26 ACP5 PKHD1 EDNRB OPA3 CTLA4 NOTCH2 ZEB1 ERBB4 LOX TNNC1 CLCN5 MMP1 TNFRSF13B CCN2 GRHL2 ATP7B NFKBIL1 PTEN PTH1R EHHADH KRT6A WT1 TCF4 MEF2A GNE PPOX FOXP1 PADI4 NPM1 ZBTB16 TMEM43 SPP1 NR1H4 ALMS1 DNAL4 COL5A2 UNC13A SOD1 CARS2 CCND1 THPO CHCHD10 GLT8D1 CARD8 DKK1 ACTA2 REEP2 TRPM4 PDGFRA PRSS2 SI EXT1 STAT6 ERLIN1 HLA-DQA1 LPIN1 HEXB CDKN2A IL10 TRIM32 FH CAV1 COL1A1 RNU4ATAC SERPINF2 RREB1 C9orf72 CNBP PMP22 HIRA PFN1 ASAH1 GPR101 MYH3 CLCNKB NLRP12 MT-ATP6 GHSR H19 MMP2 XPA EMD TARDBP ACAD9 COL10A1 CTNNB1 GANAB FLVCR1 SCNN1G SYNE2 DNM2 MSMO1 POU6F2 NF1 ATRX TAF15 ABCA1 NTRK1 CLCN1 SLC22A4 MSH2 HOGA1 LDHA PHKA1 MST1 GYPC COX6B1 TERT SF3B1 ASPN RASA1 ALDH18A1 STAR BSCL2 PALB2 ANKH TMEM127 DBH COPA PRPH GNA14 MEN1 CDH2 MITF BMP2 ZMPSTE24 MATR3 ANXA11 MYOT APOB GPR35 MDM4 TLR4 DNMT3A SPG7 RNF168 PMS1 PIGT CDH23 DOLK WNT3A COL4A5 FKTN OPA1 VANGL1 IRF5 SEC63 LMX1B HNRNPA2B1 TEK RPS20 HLA-DPB1 FLNC SH2B3 NAB2 STING1 CHEK2 LRP5 PORCN MTTP KRT6B AP2S1 PRKCD SYNE1 KCNN4 PLCG2 CIITA MESP2 SVIL HP_CHRONIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_PAIN COL7A1 TGFB2 FLVCR1 ATXN3 MMP1 HP_DYSESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSESTHESIA GABRG2 SPTLC2 RELA FMR1 SCN4A NLRP3 DKK1 GRIN2A PMP22 SRPX2 C11orf95 HP_FOOD_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_INTOLERANCE ELN MLXIPL CNTNAP2 COG8 NRXN1 ALG3 GALT HP_NON_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_HODGKIN_LYMPHOMA RHOH NBN FOXP1 CD28 MAGT1 NTHL1 CCND1 RASGRP1 ATM CASP10 CDKN2A ASXL1 FAS PMS2 MSH6 TET2 TNFRSF1B CTLA4 PRKCD MALT1 TP53 POLE SH2D1A MDM2 MYC SRSF2 ADA BIRC3 PIK3R1 BCL10 XIAP CHEK2 KIT ITK FASLG HP_CEPHALOHEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEPHALOHEMATOMA F2 ITGB3 GP1BA GP1BB ITGA2B ITGA2 CD109 F8 HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS LYST RHO CLIP2 LRP5 NDUFS4 NDUFA4 NFIX TUFM ANOS1 UNC80 TRAK1 NDUFA13 SOX4 NDP PDE6H GUCY2D GNB1 FOXL2 SYNE1 ARMC9 FDXR TMEM240 ADGRG1 IFT122 SETX MAG LYRM7 NADK2 BRCA1 ATXN7 RD3 ACOX1 SLC1A2 NDUFV1 PROKR2 MMACHC CACNB4 IFT27 THOC2 USP45 B9D1 PEX6 SAG SOX10 IL17RD DNMT1 SLC45A2 LIG4 NMNAT1 BEAN1 PAX6 ALG2 HDAC8 IFT140 FRMPD4 GBA2 XRCC1 NSD2 HTRA1 DHCR7 FANCM B4GALNT1 DNAJC12 PEX10 KATNIP ACTL6A C8orf37 NDUFA12 WHRN SYT2 USH2A EP300 MT-TV RPIA SURF1 CNGA3 RUBCN OFD1 PDHA1 DNMBP GABRA1 RP1 FDX2 PCYT2 EPG5 TBL2 SLC19A2 GABRA2 AHI1 FXN PEX5 TWNK PEX26 ADPRS XRCC2 SOS1 ADGRV1 NELFA HESX1 MRE11 GRID2 COL18A1 TMEM237 GNB5 SCN2A PMPCA PYCR2 ECHS1 MYO5A SLC1A3 SDHA CARS1 LAMA1 GDF6 KCNK4 FGF8 NDUFA1 KANK1 NUP62 ERCC1 ERCC8 LIMK1 GRK1 ZNF513 FRMD7 GPAA1 PEX3 CHAT PCARE NDUFS2 PDE6B CACNA1A DHX37 NARS2 PAX7 ATAD3A LAGE3 GALC PAX2 SPTBN2 SNX10 CRYBB2 SIL1 HPDL NDUFA9 RAD51 PCYT1A MT-ATP6 YWHAG SMC3 KIF7 MARS2 SLC18A3 COX10 PTCD3 VAMP1 GRIN2A PEX12 KIF1C AIPL1 KCNC3 NDUFAF1 EPRS1 DCC CISD2 MN1 GMPPA MOCS1 NEK2 NCAPG2 FOXE3 TUBB3 SIN3A SEMA3A SLC6A19 CHMP1A CEP78 DTNBP1 TMEM216 KMT2E ATP1A3 FANCD2 KCNB1 IFT88 PDZD7 FA2H ATP13A2 C12orf65 TUBGCP6 ERCC2 RGR CTDP1 TCTN1 AARS1 DAB1 PEX11B IMPDH1 IFT172 ATN1 GRIN2D NYX NTNG2 PIGS WDR19 NDUFAF6 HECW2 ALX4 MT-ND2 DLAT SMARCD1 ATP1A2 FBN1 TNFRSF11A WDR11 TMEM67 BBS9 EXOSC3 LARGE1 TACO1 CYP7B1 MAP2K1 MPC1 ACBD5 ITPR1 SLC16A2 L2HGDH OPA1 FASTKD2 B3GLCT AIFM1 TAT NHS EFNB1 ALDH18A1 GNAS MPV17 SLC38A8 DNM1L ATXN8OS GTF2H5 NDUFV2 NUS1 UBE3B SLC25A24 NSUN2 NDUFA11 FOXC1 CABP4 KLC2 TCIRG1 CEP120 RTN4IP1 ATXN3 SLC19A3 AGBL5 NDUFB8 NSD1 TAF1 ERCC5 ARHGEF18 PLEKHG2 SERPINI1 NDUFAF4 GJA1 FANCC CHN1 KMT2D ATP6V1E1 PSMD12 HSD17B4 ARID1A RRAS OPHN1 MT-ND5 PIBF1 BMP4 TENM3 CLPB SLC24A5 FGF14 ELN NPHP1 GLRX5 COQ5 COQ2 AIMP1 RIT1 GABRA5 COG4 SRPX2 MRPL12 ANTXR1 MC1R SMARCC2 SLC4A11 DPAGT1 RBP3 CA4 SLC29A3 SOX3 MAD2L2 TBL1XR1 TTC8 KIDINS220 CLDN16 NAGA CACNA1F WDFY3 PHYH NKX6-2 CRB1 TRAPPC6B KISS1R RERE KCNMA1 TET3 SMPD1 SLC7A14 RNF113A NTRK2 ERCC6 SNRNP200 TOPORS ACO2 HARS1 RRAS2 TIMMDC1 FGF17 APC OPN1MW MKS1 SEMA4A MYT1L NDUFS6 TTBK2 IDH3A ATCAY HPS4 ROBO3 SLX4 HMX1 POLR3A NANS TRMT1 ACTL6B GABRB2 GABRG2 FEZF1 WT1 CACNA1B ANKRD11 FUS TNFSF11 BBS1 HMGB3 PLP1 BBS2 SLC33A1 KCND3 ALG13 HIBCH KCNJ13 MED13 OCLN FAM149B1 GTF2IRD1 SALL2 SZT2 PNPO L1CAM KCNV2 NAA10 STXBP1 THG1L PDE6A ELOVL4 RFC2 PALB2 DARS2 PRPS1 DPP6 MTHFR AFG3L2 ATOH7 ANK1 PDE6D PEX13 GMPPB SLC25A46 AHDC1 SLC2A1 NALCN PEX14 SPATA5 XYLT2 PRKCG HPS1 TBC1D24 KLHL7 ADAR ABCB7 PMM2 LRAT DDX6 CACNA2D4 KIAA0753 TMEM138 GCH1 SMARCE1 TCTN2 CNGB3 PSAT1 LRP4 HCN1 CDK19 SON FOXP1 CNOT3 ADAMTSL4 POC1B TAF2 AGTPBP1 DCX NR2F1 PET100 MT-ND6 ABHD5 CEP41 MT-TL1 SETD2 POLR3B MBTPS2 FANCE NDUFS3 GDAP2 CRYGC CPLANE1 RPGRIP1L LIPT1 HS6ST1 INPP5K CRYBB1 TKFC CBL AHR PLA2G6 MAK ZMIZ1 ADSL PHIP IQCB1 ANO10 ERCC4 TRPM1 SLC25A1 SLC24A1 SDHD SLC35A2 HSD17B10 MAB21L2 KRAS STX16 FAT2 PIK3R5 SLC25A20 ARNT2 CASK OGT STUB1 PORCN PIGQ PLAA P4HTM SOX11 PDE6C DHX38 NDUFS1 SVBP EBP NDUFS8 TOE1 MTFMT TREX1 CCDC28B RPGRIP1 PNPT1 NIPBL CACNA1G CRX SLC17A5 RLBP1 CNGA1 NR2E3 PRDM16 ESCO2 SPAST GRIA4 NEU1 TFAP2A PEX16 SLC39A8 UROC1 TARS1 COX15 FANCF PEX2 MME AARS2 NDUFB9 REEP6 PPP2R5D SLC13A5 SLC12A6 YAP1 KIF1A RLIM ARX ZNF423 ATF6 RPGR RNASEH2A IDH3B ATXN10 NDUFS7 CHD7 CRYAA IFT52 PRNP BEST1 TINF2 ATM CYFIP2 IBA57 PRPF31 APTX LMNB1 NPHP4 SYT1 HPS5 HTT MERTK ZFYVE26 BAZ1B MYO9A GNAT1 GJB1 ROM1 FANCL PHF6 WARS2 EEF1A2 CAPN1 PRKD1 WFS1 SDCCAG8 PRPF8 TMEM126A PROK2 RARS1 LIM2 SLC25A4 PRRT2 TMEM231 CNNM4 PIGU GPR143 ATP2B3 SAMD9L TRAPPC4 CLDN19 GBA DHDDS DPM1 CWF19L1 RNASEH2B ARV1 HSPD1 SALL4 WDR48 AP3D1 ABHD12 PEX19 CEP290 EYS WWOX ARID2 TTPA IGBP1 FCSK SAMHD1 RP2 PRPF4 NDUFAF2 LCA5 NECAP1 FBXW11 CPLX1 SPG7 OCRL NUBPL LAMB2 NRL PTPN22 PEX1 TYR ISCA2 SYT14 GTF2I CEP164 SCN8A MPDU1 IFRD1 NDUFB10 MTR TDP1 ABCA4 BLOC1S3 TUBGCP4 SLC35A1 EEF2 PLK4 SEMA3E GAN CLTCL1 SACS COL11A1 GNAT2 OPA3 ARL2BP SOS2 SPG11 TELO2 FRRS1L DOCK3 CC2D2A SNX14 MT-ND1 POMGNT1 CLRN1 INPP5E GFM1 ARHGEF2 SMC1A SNAP25 OCA2 SDHAF1 OPN1SW HIKESHI PLD3 DHCR24 MT-ND3 GABRB3 ADD3 MPLKIP TPP1 KIF1B NDUFAF3 IRF2BPL PNPLA6 NTNG1 TCF20 BRAF SCN3A SIGMAR1 UBA5 KCNA2 AGRN SNIP1 RP9 POLG IQSEC2 ARL6 RNASEH2C ASPA ALMS1 MRAS NDUFA6 KIF2A ATXN2 FSCN2 SUFU CRIPT PDGFRB SH3TC2 MT-TK CEP104 PRX MAB21L1 IFIH1 RAB11B DPYD USP7 SPATA7 TYRP1 ELOVL5 FGFR1 KIAA1549 DPF2 CSPP1 PEX7 CERKL LETM1 FOXRED1 GRM1 COL13A1 CACNA1E CRYGD MTRR ALS2 VWA3B WDR73 JAM2 TMEM126B BLOC1S6 TRIM32 ERMARD BBIP1 NOP56 CREBBP PHGDH OSTM1 SLC5A6 TTR MAF KCNAB2 PDP1 GJC2 GPR179 UBE3A ERCC3 LONP1 YARS2 REPS1 NOTCH2NLC SRY GTF2E2 NSMF SYNJ1 MT-TW EXOSC2 MAN2B1 CLN5 RPE65 CTNNB1 SLC9A6 GJA8 PUS3 CDHR1 TACR3 RNASET2 CNKSR2 GABRD NT5C2 NDUFAF5 ZNF408 SLC9A1 HGSNAT NDNF UBE2T HPS3 PHF21A AP4E1 SDHB PIGT UGP2 KIF5A TCTN3 DNM1 RAD21 SMARCB1 KIF11 EXOSC9 TRAF3IP1 NDUFA2 RAB18 RDH12 MT-ND4 SQSTM1 WDPCP LZTFL1 NDUFB11 MTPAP GNB3 KDM6A NRAS RASA2 EXTL3 CRYBA4 RNU4ATAC ARID1B CNGB1 NAXE VPS33A RFC1 NDUFA10 WDR35 FANCB MRPS34 SRD5A3 CFAP410 FLRT1 BBS10 SCAPER VPS13B MOCS2 TANC2 PURA MICOS13 KIZ TBCK RP1L1 CDH3 HPS6 ASAH1 CENPE UBAP1 CLTC PIGN TULP1 JRK PITX2 A2ML1 FANCI MAFB SLC6A3 RAF1 PACS2 SETD5 RIMS2 ATG5 DKK1 SMARCA4 BDNF ARL13B RAD51C SYNGAP1 POU3F4 TMEM63A ATP6V1A SKI PROM1 BRAT1 SLC5A7 TUBB4A ATXN1 GRM6 OTX2 SIX6 BBS7 TRIM44 GDF3 IMPG2 NDUFB3 LRMDA CCDC141 PRDX1 HYLS1 MAP2K2 RNU12 PDE6G VLDLR BCOR PACS1 SOST FGF12 PRPF3 PRCD MECR AGK GM2A DARS1 BRIP1 RECQL4 MYO7A DGUOK CACNA1H IFT43 DALRD3 BUB1B PTPN11 CYP1B1 GFER MVK APC2 OPN1LW SCN1A NEFL PPP3CA MKKS AP3B1 BBS5 PRPH2 PMP22 AP3B2 FBXL4 TTC19 TMEM106B ERLIN2 KMT2A BBS4 DEGS1 VPS13D EXT2 KIAA0586 ATP5F1A CLP1 SLC52A2 BBS12 EIF2S3 CLCN7 OXR1 UCHL1 RNF216 ARL3 GALNT2 IARS2 XRCC4 HUWE1 MMADHC GUCA1B CTBP1 BPTF BRCA2 TUB MCOLN1 RHOA FGFRL1 SREBF1 TBP FAM161A CAV1 PRPF6 FMR1 BCORL1 FLRT3 DUSP6 EGR2 SPRY4 EDNRB HK1 MPZ LZTR1 RFWD3 PARS2 NDUFAF8 PI4KA FANCG SOX2 FANCA TANGO2 USP8 PRSS12 CACNA2D2 RORA CP SCO2 LRIT3 HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE GNE NEB MYOT VCP HNRNPA2B1 ANO5 GIPC1 PNPLA2 FLAD1 FKRP MYH14 DNAJB6 POPDC3 FKTN POMT1 HNRNPA1 FXR1 ITGA7 CRPPA HP_ABSENT_THUMBNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMBNAIL SIK1 GNAO1 ARX KCNA1 DMXL2 PIGP ATP6V1B2 SCN1B CASK STXBP1 CDKL5 NEUROD2 TRIM8 PIGQ SCN2A SLC25A22 PNKP HP_EEG_WITH_CENTROTEMPORAL_FOCAL_SPIKE_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_CENTROTEMPORAL_FOCAL_SPIKE_WAVES GRIN2A GABRG2 FRRS1L IQSEC2 SRPX2 HP_DELAYED_MENARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MENARCHE SLC25A13 PTPN11 STUB1 ALMS1 ZMPSTE24 DNM1L GHR FSHB LMNA HP_ABNORMAL_NEPHRON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEPHRON_MORPHOLOGY CLIP2 MT-ND4 SLC37A4 TBC1D8B SURF1 CRB2 CTNS SDHB HNF1B IFT122 TP53RK ACSL4 ALMS1 EMP2 BCS1L KCNJ1 FAS CFI BTNL2 EPAS1 NUP133 MMACHC ACP5 AMMECR1 MT-ND1 ELP1 NUP205 SGPL1 MRPS22 GATA3 NUP107 WT1 STAT4 AGTR1 PGM3 OCRL MT-TK MME IL23R IL10 SDHAF2 GTF2IRD1 PAX2 PTPRO FH MT-TE REN GTF2I AVIL COQ2 TMEM67 PLCE1 LMNB2 C1QC UMOD COL4A3 MAGI2 MT-CO1 RFC2 PRKCD ITGA3 WDR19 SLC30A9 AGT MT-TV MT-TS2 COQ6 NPHP3 SDHD LAMB2 SLC7A7 LPIN2 NUP160 SOX18 PDSS2 TBL2 CLCN5 LMX1B MT-ND5 CFHR5 SEC61A1 G6PC NPHS1 CASP10 NUP85 CLCNKB BSND KCNE5 MT-ND6 UBAC2 FN1 LAMC2 SLC22A12 NPHP1 NUP93 LIMK1 FAH SHPK SDHA MT-TL1 DNASE1L3 MT-ATP6 NDUFAF6 RASGRP1 SLC25A11 NPHP4 HLA-DRB1 IL12A NF1 INVS NDUFS2 MT-TH CFH INF2 C4A SMARCAL1 NARS2 IL12A-AS1 LAGE3 CEP83 CPT2 C3 COQ8B FASLG DPH1 ANLN SPRY2 APOE PKHD1 COL4A4 C1QB ITGB4 MYOCD LAMB3 PMM2 RET WIPF1 C1QA WAS ACTN4 MTRR VHL CCR1 GBE1 WDR73 MT-TF ACE JAG1 NDUFAF3 TMEM127 COPA MT-CO3 GLA MUC1 TREX1 MT-ND2 MT-TQ FAN1 PRTN3 MYO1E CD81 ANTXR1 MTX2 CA2 NPHS2 MMUT APOL1 MT-TW ERAP1 MAX TLR4 DNMT3A SLC12A1 FOXP3 LMNA MDH2 COL7A1 ARHGDIA OSGEP HLA-DPA1 VPS33A NDUFB8 TPRKB XPNPEP3 COL4A5 PLEC FOXC2 SCARB2 PUS3 JAK1 SDHC TRPC6 CTLA4 DLST ZAP70 BAZ1B GLIS2 MEFV ELN HLA-B CD2AP KLRC4 SLC12A3 MMP1 PBX1 LAMA3 HLA-DPB1 PTPN22 ALG8 MT-ND3 DGKE ADA TRAF3IP1 MT-CO2 HNF4A SCO2 KIF1B HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS ZAP70 MAGI2 LAGE3 NUP107 EMP2 HP_MACROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROSCOPIC_HEMATURIA GP9 ITGB3 HPRT1 ITGA2B GP1BB APRT GP1BA F8 HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME NUP160 AVIL NUP85 NUP93 NUP205 NUP133 EMP2 HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION ALPL CLIP2 CYP11A1 CDKN1A ATP6V0A4 CTNS SURF1 IFT122 PIGT FCGR2A STAR HLA-DRB1 KCNJ1 HSD11B2 NRAS NR0B1 CDC73 ATP7B CDKN2C GNA11 CYP11B2 BTNL2 CASR FGF23 MLXIPL CYP11B1 FXYD2 GNAS OCRL SLC9A3R1 SCNN1G ENPP1 CDKN2B CDKN1C MAGED2 GTF2IRD1 SLC34A1 SLC34A3 MUC1 GTF2I KCNJ5 SCNN1A CLDN10 HNF4A MEN1 CLCNKB DMP1 RFC2 EHHADH FAM20A CYP21A2 CACNA1S CNNM2 HRAS KRAS TBL2 CLCN5 AMMECR1 PKD1 CDKN1B HSD3B2 SLC12A1 GABRA3 GATM EGF ABCC6 GCM2 CFTR KCNJ10 TGFB1 NDUFAF6 BSND TXNRD2 SLC2A2 PHEX MT-TN BICC1 ELN PTH1R BAZ1B LIMK1 MRAP GANAB SARS2 SLC12A3 ADCY10 KCNJ18 NNT CYP24A1 ALDOB PKD2 CLDN16 AP2S1 CLCNKA INPPL1 SCNN1B INSR MC2R COA8 CLDN19 PIK3C2A ATP1A1 AVPR2 HP_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBUMINURIA GALT PDX1 GANAB PKD1 KCNJ11 GCK PKD2 BICC1 ABCC8 INS PEX1 IER3IP1 STAT3 HP_MODERATE_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_ALBUMINURIA ABCC8 PDX1 INS KCNJ11 GCK IER3IP1 STAT3 HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION CLCNKB SLC34A1 CYP11B2 NDUFAF6 CYP11A1 BSND SLC12A3 SLC12A1 CACNA1S CLCNKA GABRA3 KCNJ18 GATM EHHADH ATP1A1 KCNJ10 CTNS KCNJ1 HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION KRAS GNAS SLC9A3R1 ENPP1 CLCN5 CTNS SLC34A1 SLC34A3 GATM OCRL SURF1 ABCC6 FGF23 HNF4A NRAS ATP7B GCM2 CASR DMP1 ALDOB MEN1 EHHADH NDUFAF6 SLC2A2 FAM20A PHEX MT-TN INPPL1 CDC73 COA8 HRAS PTH1R HP_ABNORMAL_URINE_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION MRAP SLC34A1 NDUFAF6 CYP11A1 BSND TXNRD2 HSD3B2 CLCNKA GATM EHHADH MC2R CYP11B1 AVPR2 KCNJ10 STAR CLCNKB NNT HSD11B2 HP_HYPERNATRIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERNATRIURIA MRAP CYP11A1 BSND TXNRD2 HSD3B2 CLCNKA MC2R CYP11B1 AVPR2 STAR CLCNKB NNT HP_RENAL_SODIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_SODIUM_WASTING GATM EHHADH SLC34A1 NDUFAF6 KCNJ10 HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION FXYD2 IFT122 CASR EGF CNNM2 CLDN19 ATP1A1 KCNJ10 SLC12A3 CLDN16 GNA11 HP_HYPERMAGNESIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESIURIA CASR EGF CNNM2 CLDN19 CLDN16 GNA11 HP_ABNORMALITY_OF_URINARY_URIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINARY_URIC_ACID_CONCENTRATION PRPS1 SLC22A12 PNP MOCS1 HPRT1 HP_ABNORMAL_URINE_CYTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CYTOLOGY SDHD GLA CLDN19 NPM1 WT1 LYZ UMPS COL4A4 ZBTB16 FN1 C3 SDHB SPP1 GBA SMAD4 ACSL4 NABP1 RET CTNS F8 STAT5B ITGB3 DIS3L2 EPAS1 NUP133 STAT3 NOTCH2 AMMECR1 VHL CFI SLITRK6 GATA3 AGGF1 B2M APRT TMEM127 OCRL PRKAR1A FGA INF2 TRIM28 CD46 HPRT1 PTPN22 GP1BA SDHAF2 AGXT FH IL17RC PML GP9 GRHPR SLC5A1 TSC1 TSC2 FAN1 SERPINF2 ENG LMNB2 COL4A3 BCOR PRTN3 MYO1E BRCA2 ITGA2B TBL1XR1 F5 GDF2 GP1BB COL4A6 HBB LPIN2 THBD CLCN5 ITGB4 PKD1 LMX1B MAX YAP1 CFHR5 CD109 DNMT3A IL17RA SLC37A4 MDH2 RARA NUP85 KANK2 COL4A1 HLA-DPA1 F2 ACVRL1 F10 SREBF1 HMOX1 ACP5 COL4A5 MMACHC IL17F KCNE5 NUMA1 CFB BICC1 LMAN1 H19 SDHC REST NUP93 TREX1 CTLA4 DLST CD2AP SDHA GANAB FIP1L1 TRIP13 DNASE1L3 SLC25A11 MCFD2 POU6F2 NF1 HLA-DPB1 ADAMTS13 CFH SCARB2 STAT4 CLEC7A GPC3 IRAK1 ITGA6 ITGA2 PKD2 CLDN16 HOGA1 IRF2BP2 PRDX1 TRAF3IP2 KIF1B APOA1 SPRY2 HP_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_KIDNEY_DISEASE SLC7A7 NOD2 IFT43 SH2B1 TBC1D8B COL4A4 NPHP1 TTC21B HNF1B IFT122 DNAJB11 MYOCD TP53RK MEFV ALMS1 CTNS TRAF3IP1 IFT172 GCDH ACTN4 TSC2 NUP133 BNC2 DZIP1L NUP205 MAPKBP1 SGPL1 GATA3 NUP107 APRT JAG1 INF2 LAMB2 PKDCC AGXT PAX2 CEP290 MUC1 AVIL GSN TMEM67 CD151 FAN1 PLCE1 PYGM PKHD1 COL4A3 MAGI2 CC2D2A MYO1E PKD2 WDR19 ALDOB DSTYK IQCB1 KYNU NEK8 NPHP3 LZTFL1 DCDC2 AHI1 NPHS2 IFT140 MMUT COL4A6 APOL1 NUP160 SOX18 PKD1 CFHR5 SEC61A1 INVS GATM COL7A1 PRKCD WT1 NUP85 CLCN5 ARHGDIA CEP164 OSGEP TPRKB CHRNA3 XPNPEP3 TMEM126B SLC34A1 NDUFAF6 ACP5 COL4A5 TSC1 NPHP4 BICC1 RAD51C FN1 PUS3 REN STOX1 TRPC6 NUP93 GLIS2 GANAB SARS2 MMP1 UMOD CORIN OCRL CFH TMEM231 SDCCAG8 LAGE3 CEP83 CPT2 NTRK1 CLDN16 DGKE COQ8B EHHADH FLT1 CLDN19 PPOX ANLN SPRY2 SAA1 HP_ABNORMAL_INTRAOCULAR_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTRAOCULAR_PRESSURE COL8A2 SF3B1 CYP1B1 VSX1 LTBP2 GNAQ ADAMTS17 DSE PXDN GRHL2 MYOC PRSS56 GNA11 BAP1 HLA-A SLC39A14 PITX3 LOXL1 COL18A1 CHST14 ASB10 HMX1 FOXE3 CYSLTR2 OVOL2 ASPH ZEB1 TEK HP_ABNORMAL_INFLAMMATORY_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INFLAMMATORY_RESPONSE LYST NOD2 KDM6A CLIP2 CR2 NODAL CYP7A1 IL10RB CXCR4 AXIN1 IL6R AGA PRMT7 MAP3K7 HLA-DRB1 CFTR BCS1L CTLA4 TTC37 ATP7B MGP RAG2 CFI TCF3 BTNL2 PAH DISP1 XPC DDB2 RTEL1 MMACHC ACP5 EPM2A BCL10 PSPH CCDC114 PLCD1 KDF1 KANSL1 IDS STAT4 FGFR2 LIG4 AKT1 PRF1 PSTPIP1 HDAC8 ALOX12B BMP4 RAC1 SLC29A3 NCSTN IL23R SP110 CTRC CCDC103 CD3D FMR1 ALOXE3 KCTD1 UBA1 DHCR7 TGFB1 GSN RSPH9 JAGN1 CIB1 SIX3 NSUN2 IL18BP KIAA0586 PIEZO1 ERF LRRC6 GAS2L2 MET EP300 STAT3 SCNN1G TBL1XR1 CARD14 GATA3 NLRP3 BPTF MSX1 CYP4F22 IL7R JAK3 TBL2 MT-ND5 GAS8 NCF2 NFKB2 G6PC DEAF1 SLC35A1 EGFR LCK RARA GP1BB DNAAF6 IL2RA LMX1B POU2AF1 NELFA UBB IL17RA DNAH9 MT-ND6 UBAC2 BICC1 LAMC2 NF1 SKIV2L ERCC1 LACC1 GUSB KRT10 LRRC8A NBN LIMK1 ATL1 TP63 PTCH1 SHPK FLG DLL1 GRHL3 DNASE1L3 DNAAF1 HGD MBTPS2 GAS1 CLCN7 MT-TL1 IGLL1 TRPM4 SMARCA2 CERS3 GJB6 KRT1 SFTPB FMO3 ADAM17 MALT1 LAGE3 DCLRE1C IRAK1 IL2RB SNX10 C4A BAP1 DNMT3B BLM TNFRSF1B SMC3 EFEMP2 DKC1 TNFSF11 IFT172 STAT2 PKP1 SPINK1 CIITA PTCD3 MLX TNFRSF13C LBR MAGT1 SEC23B C1QB AIP MAF PTPN22 MVK SPINK5 TREX1 CARD11 NABP1 WIPF1 SLC6A19 PIGA CDC73 CARMIL2 TBX20 COMT HLCS KRT8 APC ANAPC1 GJB2 CCR1 MT-TF DLG1 MED25 ERCC2 GNA11 RHOH PSENEN SHANK3 PRKAR1A GLIS3 RAG1 RTL1 TDGF1 CAT HPGD PDHA1 IRF6 IL36RN SAMHD1 FERMT3 TNFRSF11A SPEF2 FGFR3 PRTN3 RET CRELD1 CTSC CAPN5 RSPH4A RFXANK SLC6A5 XIAP PEPD IL12RB1 MPV17 DNAAF2 SIK3 GTF2H5 PKD1 ERAP1 RPL11 IGF2R TTC25 SERPINA1 NIPAL4 COL7A1 AEBP1 FGF8 SLC25A24 PTEN CSTA HLA-DPA1 ATP7A CYBB ANK1 NSD1 TAF1 XPNPEP3 ERCC5 RAC2 ANO5 TTC7A FOXC2 TNFRSF1A HNRNPA2B1 KRT16 IL2RG GLI2 DLK1 HLA-B BLNK ZEB2 MEFV ELN TNPO3 CD247 MT-TW FCN3 FGFR1 NOP10 MTAP ZIC2 FOXD3 EPG5 LRRC32 C1S ERCC4 WDR35 GATA6 LPL FECH KNSTRN LMNA CCDC39 CD79A ADA MEIS2 NCF4 DNAI2 MORC2 NFE2L2 SDR9C7 APOA1 KIT POLA1 VPS33B NME8 SRP54 DNAAF4 SAMD9 COL2A1 POMP PAX6 NKX2-5 RNF113A ERCC6 HLA-DQB1 CD19 SLC25A15 CCDC151 FCGR2A EMP2 CDKN1B STAT1 SPTA1 FAS CARD9 SELENON CASR UFD1 TCIRG1 MAPK1 IL21 ACTG2 PTPN2 PAFAH1B1 IRGM NUP107 SRCAP ANKRD11 PIK3CA SFTPC CCDC65 PGM3 GNAS DNAH5 ITCH TNFSF12 TBX19 GTF2IRD1 CD55 ZMYND10 DNAJC21 OPLAH DOCK8 ORAI1 IKBKG C1QC IL6 DNAI1 H6PD NFKB1 HLA-A CASP8 RFC2 MYD88 BACH2 PRG4 ATOH7 TRAF3IP2 CRLF1 HYDIN MT-TS2 HAVCR2 TGFBR2 F13B RBCK1 KRT18 XDH NLRC4 XYLT1 TAP2 HPS1 ESR1 LPIN2 ADAR CYBC1 SOX18 ORC6 KCNJ6 PIK3CD HSD3B2 IVNS1ABP CFHR5 ARPC1B SLC37A4 GNAQ TK2 PRKDC FLI1 TGM1 RFX5 DNAH11 CD3E FOXP1 SMARCC2 DLX4 RPGR CYBA SLC39A4 PNP ZNF750 FOXE3 ANKRD55 SMAD3 SHOC2 TNFSF15 CCBE1 SETD2 ZAP70 GATA2 PSMB9 ADAT3 CITED2 NAA10 CYP7B1 PSEN1 KDSR IL12A-AS1 MNS1 COL5A1 KRT17 RYR1 JMJD1C POLH HSD3B7 FOXH1 TLK2 ATL3 IKZF1 SLC7A7 DNAAF5 SPAG1 IL12A MMUT ADAMTS3 CD28 ERCC3 TPP2 PCYT1A SREBF1 LAMB3 ABCA12 LSS GPHN STX16 NEK9 GINS1 WAS EXTL3 MYSM1 BCOR COL11A2 TP53 IL17F PLEKHM1 DZIP1L STUB1 NECTIN1 SHH USB1 CFAP300 NR3C1 P4HTM EDA DRC1 EBP POLG PSMB4 MCIDAS NHLRC1 ST14 DNAAF3 HYOU1 MT-TQ CDK10 NIPBL CACNA1G POR CDON BCKDHA ABCC6 NKX2-1 CD79B SH2D1A RAI1 CD81 KIF11 TARS1 UNG ARMC4 COL4A6 MBL2 TINF2 RSPH1 ELANE ITGB4 TBCD GJA1 PLXND1 CST6 CCT5 PHGDH TG NDUFS3 HOXA13 STAG2 RNASEH2A EDAR EFL1 GATA1 ARVCF RNU4ATAC COL4A5 PLG NUMA1 HDAC4 IRF9 ADA2 DNAJB13 AFF4 CYSLTR2 CSPP1 C5 BAZ1B ABCB4 FIP1L1 KLRC4 SH3PXD2B TIMM8A LAMA2 ALDH3A2 WDR19 TGIF1 RANBP2 TAP1 ZBTB24 CTNNB1 ITGA6 IFNGR1 RSPH3 DGKE BIRC3 DNASE1 IRF2BP2 PDGFRA PLOD1 RBM8A UNC119 ICOS RNASEH2B IFIH1 DDX41 GFI1 VEGFC COL5A2 DSG1 HBA1 TBX1 LONP1 PNPLA1 RELB STAT5B EPB42 NCKAP1L FLT4 CHST14 GLRB ACTC1 SCN9A MT-ND1 MLXIPL SLC35C1 MCCC2 HBA2 B2M PRKACA CFAP298 RIPK1 OCRL SEC24C TFRC PTPRC MME PSMB8 TBC1D24 OTULIN GBA ABCA3 HLA-C GTF2I PML MPDU1 SETBP1 CCNO FBLN5 MAGI2 COX4I2 RETREG1 SLC25A13 MT-CO1 PRKCD KRT14 IL12B SMARCD2 CLTCL1 NEK10 SMC1A CHD7 AUTS2 STXBP2 IGHM GLRA1 AIRE TRAPPC11 DNAL1 PRSS1 FOXN1 MASP2 A2ML1 CREBBP RMRP CTSK COL3A1 WDR26 IL10RA CTSB KRT5 MS4A1 NLRP1 MPLKIP GATA4 RASGRP1 IL4R HBB GJC2 BRAF DNAH1 CCDC47 ENPP1 UBE2A FCGR2B PURA CAPN3 MNX1 NR2F2 CTC1 NFIX RNASEH2C ALMS1 PKD2 AMACR OFD1 ARHGAP29 APOC2 MAB21L1 ADAMTS2 MTHFD1 RFXAP TKT PAPSS2 ASAH1 MEN1 GNPTAB SPTB TERC PMM2 MIF NAXD F5 LETM1 SPIB VIPAS39 RBP4 LHCGR KYNU COG8 CPA1 SDHB BNC2 MMEL1 F13A1 TAPBP SLC30A2 TGFBR1 IL6ST USP8 ABCB1 MT-CO3 PSMD12 AP1B1 POLR3A POLE NOS1 LEP STXBP1 SCNN1B SUOX APOE BTD MYCN SRY ATAD1 GJB3 RUNX2 TNFAIP3 NPM1 SGCG NCF1 IRF8 BTK FERMT1 IL1RN ERCC8 MEG3 BCKDHB PPARG CD27 PKHD1 MAN2B1 XPA JAK1 CD40LG NOTCH2 GJB4 INAVA TGFB3 IRF5 SLC12A3 MMP1 TNFRSF13B SDHC FAM111B DBT WNT4 TGFB2 LAMA3 NTRK1 SDHA C1R SLC4A1 MT-ND4 SH3KBP1 LTBP3 KPTN BRCA1 PNPLA2 IL7 RAD21 TCF4 FOXP3 HSPA9 LYZ TMC6 GORAB ZBTB16 SULT2B1 SCNN1A SPP1 FANCF REV3L ZNF341 COG6 FLII SBDS CARD8 KIF15 BSCL2 VPS33A MYH6 TKFC PRSS2 TERT HLA-DQA1 ACADVL GTF2E2 IL10 CFAP410 NSD2 GPIHBP1 MS4A2 LMNB2 RREB1 UMOD COL4A3 OSTM1 TBCK ITGB2 HIRA KRT9 RRAS2 STK36 DDR2 BCL11B ECM1 TGM5 SLCO2A1 IFNG CLEC7A ZEB1 PLA2G7 DSE GPR101 CASP10 ATN1 NSMCE3 PIGN SETD5 CLCNKB ZFAT KMT2D NLRP12 HYAL1 TGDS SLC2A10 IKBKB GANAB CFB CDH1 FLVCR1 DCDC2 UROS MSMO1 PGM1 IQSEC2 TBX2 MT-TH SMARCAD1 DNMT1 STX11 WRAP53 PCCA IGSF3 FOXJ1 NHP2 C3 CLDN1 MYH9 MRTFA TLL1 FASLG MST1 FLNA SF3B1 COL4A4 ATM SRD5A3 C1QA NXN CCDC40 CACNA1C ACTA1 RNF125 NADK2 IARS1 LRRC56 COPA FGA LIPN RAB7A APC2 CIDEC IL17RC NGF CFAP221 LMBRD1 AP3B1 CD151 PANK2 SDCCAG8 WDR1 SPTLC2 CD3G KMT2A LRBA PARN ATP8B1 CBS AP1S3 GPR35 MDM4 TTC12 TLR4 PLCG2 C4B FCGR3A IARS2 EDARADD TMC8 TRAF6 RNF168 PLA2G6 SLC9A3 KAT6A ROR2 CDH23 FAT4 JAK2 NSMCE2 HMGCL AK2 IL21R CAV1 AGPAT2 FGF3 TBX4 TEK DPF2 MSN HLA-DPB1 SPTLC1 PIK3R1 RTTN PDGFRL STING1 MTTP PLEC AP2S1 PCCB MT-CO2 ITK HP_PERISYLVIAN_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERISYLVIAN_POLYMICROGYRIA CDON MAGEL2 NDN FGF8 SNRPN TGIF1 SRPX2 DLL1 OCA2 FOXH1 PI4KA ZIC2 PTCH1 SIX3 MTOR TDGF1 SHH ADGRG1 GAS1 DISP1 MAPK8IP3 GLI2 NODAL SHMT2 HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY PSEN1 CHD2 CHMP2B SQSTM1 TRAF7 TERT AKT1 APOE COQ2 VCP SLC6A1 ABCC8 NF2 MAPT SMARCE1 TMEM106B GRN PDGFB TREM2 C9orf72 AP2M1 BAP1 KCNJ11 SUFU PIK3CA SMARCB1 PSEN2 SMO HP_REDUCED_EJECTION_FRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_EJECTION_FRACTION PPCS TTN POLG DYSF LAMA2 POLG2 SLC25A4 TWNK RRM2B GTPBP3 HP_IRON_ACCUMULATION_IN_BRAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_ACCUMULATION_IN_BRAIN WDR45 FTL DLAT FA2H PLA2G6 TBCE CP PANK2 VPS13A HP_ABNORMALITY_OF_THE_PINEAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINEAL_GLAND ABCB4 ATP8B1 PSMD12 PNPLA2 INSR GALNT2 WDR26 KANSL1 NR1H4 ABCB11 BPTF VAX1 HP_ABNORMALITY_OF_PINEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PINEAL_MORPHOLOGY PSMD12 WDR26 KANSL1 BPTF VAX1 PNPLA2 INSR GALNT2 HP_PINEAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PINEAL_CYST PSMD12 WDR26 KANSL1 BPTF PNPLA2 GALNT2 HP_ABNORMAL_THALAMIC_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_SIZE EXOC7 SLC2A1 FKRP POMT2 POMK POMGNT1 POMT1 GMPPB GSX2 HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY PTCD3 POLG BAP1 TRAF7 TERT SUFU AKT1 PIK3CA GTPBP3 NF2 TWNK TREM2 C12orf65 SMARCE1 FTL SMARCB1 CP PDGFB COX10 MFF SMO HP_SMALL_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_BASAL_GANGLIA SLC19A3 TBCK CYB5R3 ADAR VPS13A FDXR MT-ATP6 HIBCH TUBB3 NANS CYB5A NUP62 CNTNAP1 HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY GLA BCR VANGL1 MST1 TBCD EIF2AK2 ARSA TBX1 CFAP43 HPSE2 GP1BB ARVCF SLC9A6 DSTYK DACT1 VCP ATP13A2 DAXX COMT FA2H UFD1 ISL1 SLC16A2 SCN4A DDHD2 FMR1 ZEB2 B2M ZFYVE26 RTN2 SEC24C CRKL FLVCR1 C19orf12 SALL1 PSAP PLP1 LRIG2 ABCD1 ATRX RREB1 MAPK1 SLC44A1 HIRA TP63 JMJD1C FUZ NOP56 TCF4 GPR35 HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY KDM5B ENG MAT2A TGFBR2 SMAD4 RASA1 DMD ZNF81 PRKG1 GDI1 CLTC PAK3 GCDH ITGB3 GRIN1 MTRR ACTA2 MT-ND1 TSEN15 DOCK8 SYP MECP2 MBD5 MT-TF HIVEP2 ZMYND11 MID2 PPP3CA DYNC1H1 ACVRL1 TRPM3 SYNGAP1 ARHGEF6 SEPSECS TAOK1 MT-CO3 RPS6KA3 AGTR2 ZNF711 MYT1L SMAD3 MT-TQ CSNK2B AHCY WAC FOXE3 CNKSR2 CACNG2 MT-CO1 ANGPTL6 ELN MYH11 TGFB3 ASH1L MT-TS2 TGFBR3 ITGA2B DLG3 GDF2 CLCN4 FBN1 MYLK ALG13 GRIN2B CAMK2B KCNQ5 DEAF1 CAMK2A MT-ND5 L1CAM SNRPN ZNF41 CD109 NARS1 KIRREL3 GP1BA GP1BB PTCHD1 UPF3B TSPAN7 RAB39B BRSK2 TSEN2 F10 SLC9A7 EEF1A2 USP9X FRMPD4 COL3A1 MT-ND6 IQSEC2 CDH2 USP27X ARX TSEN34 THSD1 SET TSEN54 CXorf56 MFAP5 TGFBR1 CIC LOX MT-TW WARS2 MT-TL1 EPB41L1 ALG11 MED12 CDH15 CUX1 MT-TH ACSL4 CHAMP1 MT-ND4 TGFB2 IL1RAPL1 AIFM1 KIF1A ITGA2 FTSJ1 HCFC1 TCF4 MT-CO2 RAB11A MED12L MRE11 STXBP1 HP_WIDENED_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_SUBARACHNOID_SPACE GRIN2B CAMK2B KDM5B KCNQ5 GRIN1 DEAF1 CAMK2A MT-ND5 SNRPN ZNF41 NARS1 KIRREL3 PTCHD1 DMD UPF3B ZNF81 TSPAN7 RAB39B BRSK2 GDI1 TSEN2 CLTC PAK3 GCDH SLC9A7 EEF1A2 USP9X FRMPD4 MT-ND6 MTRR IQSEC2 MT-ND1 TSEN15 SYP USP27X ARX MECP2 TSEN34 MBD5 SET MT-TF TSEN54 HIVEP2 ZMYND11 CXorf56 MID2 PPP3CA CIC DYNC1H1 TRPM3 MT-TW ARHGEF6 SEPSECS TAOK1 MT-CO3 WARS2 MT-TL1 RPS6KA3 EPB41L1 AGTR2 ZNF711 ALG11 MED12 MYT1L CDH15 MT-TQ CSNK2B AHCY CUX1 MT-TH WAC ACSL4 CHAMP1 MT-ND4 CNKSR2 CACNG2 MT-CO1 IL1RAPL1 AIFM1 KIF1A FTSJ1 ASH1L DOCK8 HCFC1 SYNGAP1 MT-TS2 TCF4 DLG3 MT-CO2 CLCN4 RAB11A MED12L STXBP1 ALG13 HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS ACAT1 NDUFAF3 ASPA MT-ND5 SURF1 MT-TW CNP GRM7 MT-CO3 MT-TL1 GAMT NGLY1 C12orf65 GATM MT-TQ NDUFS2 CACNA1G MT-TH HSD17B10 SLC35A2 TBCK MT-ND4 SLC6A8 NDUFB8 SUCLG1 MT-CO1 MT-ND6 COG8 HPDL MT-ND1 PSAP MT-TS2 GALC MT-TF POLR3A MT-CO2 SCO2 DNM1L HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS TBCK NGLY1 PSAP GALC CACNA1G CNP GRM7 HP_MILD_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_HEARING_IMPAIRMENT MID2 ARHGEF6 ZNF41 RPS6KA3 AGTR2 ZNF711 MED12 PTCHD1 DMD UPF3B ZNF81 PGM3 TSPAN7 COL1A2 RAB39B MFN2 GDI1 ACSL4 PAK3 MARS2 CNKSR2 IL1RAPL1 SLC9A7 USP9X FRMPD4 FTSJ1 IQSEC2 HCFC1 SYP USP27X ARX MECP2 DLG3 CLCN4 CXorf56 DPH1 ALG13 HP_SEVERE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_HEARING_IMPAIRMENT RAF1 BRAF TK2 GPSM2 PTPN11 CHSY1 ALMS1 COL1A2 TRIOBP ATP6V1B2 HP_PROFOUND_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_HEARING_IMPAIRMENT KCNE1 KCNQ1 SLC12A2 FGF3 CIB2 SLITRK6 MYO15A EPS8 RDX PRPS1 HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT CLIP2 NODAL NFIX PUF60 TRAK1 CDKN1A IL10RB WFS1 MCOLN1 DLL1 ATRX QDPR SETX JAK2 MAP3K7 SHANK3 SLC9A6 DDIT3 HLA-DRB1 PMS2 ATXN7 CTLA4 ACOX1 TTC37 SLC1A2 KRAS IRF5 ATP7B DISP1 PARN GRIN1 CCDC22 SCN4A EOGT MAPT ABCC6 RAD21 PSPH CTNS NOTCH1 CREBBP IDS POGZ STAT4 PAK1 MAGEL2 NPC2 TOP3A PSTPIP1 HDAC8 BMP4 IL23R SP110 SEPSECS ATXN2 FMR1 SPG7 SLC12A2 XRCC1 SPART TSPYL1 NSD2 NEB TSC2 DHCR7 CBS ASXL1 TGFB1 SIX3 SLC25A13 ADH1C LMOD1 SEC23A KIAA0586 MSH6 HPDL TP63 VPS13A SYT2 EP300 SFTPC MT-TV TANGO2 GFI1B MYORG MSX1 EPCAM FGG JAK3 MLH3 TBL2 MT-ND5 SLC19A2 POLG2 GABRA2 FXN CHAMP1 DEAF1 TERC ACTB GALC GP1BB CHAT BRSK2 LMX1B POU2AF1 UBB NRTN F10 MCEE TCF4 MT-ND6 UBAC2 LAMC2 PSEN1 XYLT2 SKIV2L ORC1 IDH2 NUP62 FUS LIMK1 VAMP1 PTCH1 IRF6 RELN ITGB3 GRHL3 MSL3 SIK1 GRM7 GAS1 MT-TL1 FOXG1 CORIN NDUFS2 POLG COG7 CACNA1A ATP1A3 EXT2 NOTCH3 SLC44A1 PANK2 GMNN SPECC1L PAX7 EWSR1 ITGA2 C4A ACTA1 RET BLM YY1 YWHAG DMPK GFPT1 SMC3 SLC18A3 RAB11A CYP7B1 MED12L STXBP1 CHRNE CIITA KDM5B MLX TARDBP F7 PIEZO2 CENPT LBR ENG RRM2B EPRS1 CISD2 ITGB4 GMPPA GNAO1 NCAPG2 TRAPPC11 PMP22 NR4A2 OPTN WIPF1 CHMP1A CDC73 CARMIL2 REEP1 COMT KCNB1 RLIM HRAS FA2H MADD CCR1 MT-TF C12orf65 DLG1 RPL10 AARS1 DAB1 TYROBP TECPR2 TRPM3 GRIN2D FLCN TDGF1 GP1BA RTEL1 GLA SMAD4 GCH1 SLC46A1 MT-ND2 PDHA1 COL13A1 UBE3A GDNF SEMA3C PRTN3 MAP2K1 FLVCR1 SYNJ1 BMPR1A GBA RFXANK EHMT1 SLC6A5 PRKCSH DCX IL12RB1 CHRNA1 ALDH18A1 NONO ATXN8OS NUS1 LTBP4 HMBS ERAP1 RPL11 BRCA1 LRP12 KIRREL3 XYLT1 COL7A1 F9 FGF8 SLC25A24 SERPING1 ATXN3 PLA2G6 HLA-DPA1 ATP7A FLNA NDUFB8 NSD1 TAF1 EEF1A2 LAMB2 TTC7A SCARB2 SCN3A TNFRSF1A AICDA DNAJB6 STOX1 SET GLI2 GEMIN4 HLA-B IDH1 ZEB2 CDON MEFV ELN CIC PRKRA STAG1 TNPO3 SPOP MT-TW TET2 GABRA5 FCN3 COG4 FGFR1 MYPN SRPX2 MCFD2 ZIC2 HNRNPK PCNA TPM2 PLVAP TEK GNB5 KNSTRN SHH PYCR1 FGFR3 RERE KIT POLA1 SEC31A NUTM2B-AS1 SRP54 STK11 DNM1L HPGD SURF1 TUBB4A NTRK2 ERCC6 HLA-DQB1 CAV1 KIAA0319L FTL FCGR2A CAVIN1 CDKN1B NCF4 GCDH FAS ABCD1 F8 VPS35 PIGN TTBK2 UFD1 KIF1A FLAD1 MAPK1 DDC AMER1 POLR3A MT-ATP6 TPM3 MBD5 TK2 IL21 GABRB2 ACTG2 GLUD2 TUBB6 SMC1A IRGM ANKRD11 POLR2A AR GREM1 GNAS FAN1 ATP11A SLC5A7 GTF2IRD1 CD55 SZT2 OPLAH HMGA2 TSC1 CSNK2B PYGM IL6 RFC2 PRPS1 TMTC3 BACH2 GUCY1A1 SNCA MRPS25 CRLF1 PTS MT-TS2 NALCN SEMA3E TWNK PRKCG TGFBR2 F13B KCNQ3 MAP2K2 NLRC4 HPS1 DYRK1A TYMP ORC6 PLEC PIK3CD IVNS1ABP ERLIN2 ARPC1B PRPH WASHC5 SPG21 RFX5 TSEN2 ACVRL1 HCN1 CDK19 SON DLX4 VAPB ABCD4 SSR4 TSEN54 LINGO1 PLP1 TNXB SMAD3 TNFSF15 SETD2 POLR3B EIF4G1 NEPRO EPB41L1 CCR6 FBN1 GDAP2 PNKD KCNQ2 SATB2 ALDOB MYH11 IL12A-AS1 DPP9 KCNK9 BRCA2 MRPS28 MAP1B MVK JMJD1C SYNGAP1 FOXH1 STN1 VAC14 HSD3B7 GUCY2C IKZF1 IFNGR1 IL12A KIF23 TP53 ERGIC1 NRXN1 SLC25A1 ASCL1 EGFR LAMB3 SLC35A2 HSD17B10 GPHN IARS2 CDKN2C WAS ALS2 RHBDF2 TERT COLQ PLA2G4A DZIP1L ERCC2 NEUROD2 STUB1 MYH7 NECTIN1 SDHB SEMA3D PLAA ARID2 CAMK2B CHRND HPRT1 PNP MT-TQ ZC4H2 NIPBL CACNA1G KBTBD13 PRDM16 PFN1 LONP1 TFAP2A RYR1 MATR3 CLCN4 RAI1 KCND3 DCTN1 MLH1 NEDD4L SLC52A3 ADAT3 COL4A6 TWIST1 ASPA ELANE PCGF2 PIK3CA TBCD SLC13A5 PLXND1 PHGDH ERMARD NDUFS3 PHOX2B STAG2 NEK1 ITGA2B TBP ATXN10 CHD7 ARVCF CYFIP2 ASCC1 CDC6 LMNB1 LMAN1 HPCA IRF9 KLHL40 SYT1 TSEN34 AFF4 ZFYVE26 PIK3R5 CSPP1 PABPN1 BAZ1B COQ4 MYOT MYO9A ECE1 BRAF MPL KLRC4 TBK1 WARS2 NGLY1 SALL1 TIMM8A LAMA2 TGIF1 MYLK NPC1 OCA2 SEMA4A KLHL7 NEFH ADCY6 FARS2 PDGFRA TCIRG1 SLC25A4 DHDDS ZAP70 STAT1 ARV1 SQSTM1 HTT TRIP4 GFI1 MDM2 NEXMIF TBX1 ARFGEF2 GABRG2 FARSB FCSK KMT2A MUC5B KY MEIS2 SKI HNRNPH2 GLRB NDUFAF2 MT-ND1 TSEN15 MLXIPL SLC35C1 VCP ZMYND11 AGGF1 NTNG1 NECAP1 DGUOK RIPK1 CPLX1 OCRL SEC24C RBPJ PTPN22 TBC1D24 TAOK1 SYT14 GTF2I SCN8A SETBP1 MYT1L TGM6 AFG3L2 SLC25A22 MPZ UBQLN2 MT-CO1 PRKCD PALLD XIAP IL12B GNAQ ASH1L STXBP2 NPHS1 SOX10 VWF GLRA1 SELENON ARHGAP31 ATP13A2 SNAP25 DAXX MASP2 ADAM17 SACS IL10RA ADD3 FAH CNTNAP2 RASGRP1 IRF2BPL SIGMAR1 CCDC47 ENPP1 CDH15 KCNA2 MNX1 AGRN EDN3 RNASEH1 HIVEP2 COL5A1 LRRK2 DOCK8 F11 UBTF MT-TK PDE8B NF2 ARHGAP29 NOP56 FLT1 ADAMTS2 SFTPA1 RECQL4 RFXAP MED17 NBN SLC6A8 USP7 KLHL41 ASAH1 MEN1 CNTNAP1 SLC2A3 F5 CLTC SPIB LETM1 MECP2 AAAS PSAP SMG9 MMEL1 F13A1 STAT3 UBA5 NDUFAF3 TGFBR1 PPP3CA DYNC1H1 ABCB1 CDKN2B PIGA MYC RETREG1 MT-CO3 HOXB1 PIEZO1 CLMP TREX1 TREM2 NFKBIA PGM3 CTCF KCNAB2 PDP1 CHCHD10 YARS2 NOS1 ACTA2 REPS1 FGA ATAD1 F2 GRIN2B TNFAIP3 PRNP APC KCNQ5 CAMK2A CD109 DDOST NDUFA6 KAT6A CDKL5 ERCC8 SDHD KAT6B GABBR2 MACF1 EDNRB KMT2C MAN2B1 WDR26 ADGRG1 PUS3 JAK1 TBC1D23 CNKSR2 SDHC INAVA TGFB3 GABRD SLC19A3 MMP1 CAMTA1 CCN2 TGFB2 LAMA3 ORC4 B4GALNT1 SDHA MT-ND4 SH3KBP1 SNCAIP ACTL6B KIF5A PTEN DNM1 WT1 SCN9A EXOSC9 PACS1 FOXP3 PPOX SPG11 CD3E SLC6A3 CPOX FGB REV3L ALMS1 SH2B1 MYMK TXN2 COG6 COL5A2 CARS2 CCND1 CTC1 DNAJC13 FLII ARID1B STAC3 DCLRE1C CARD8 MID1 ELP1 VPS33A CRYAB SOD1 B2M NOD2 HLA-DQA1 MRPS34 ARF1 CDKN2A IL10 MEGF10 SFTPA2 GP9 ZSWIM6 ABCA3 COL1A1 GPIHBP1 RREB1 PKHD1 TBCE MSR1 CACNG2 SERPINE1 CYP27A1 HIRA TRMT10C NDUFA9 NF1 IGHM FIG4 CDK4 ECM1 ADAR SLCO2A1 LIFR TIMM22 NEU1 DDHD2 CASP10 ATN1 SOX5 CFTR SETD5 DKK1 FBXO7 TRAPPC12 LMOD3 SLC2A10 ATP6V1A PPM1D ATXN1 APP CDH1 C19orf12 ANAPC1 MGME1 CYBC1 IQSEC2 MT-TH COL3A1 CTNNB1 NTRK1 IRX5 MSH2 MED12 FASLG MST1 ITCH MYH8 DLL4 WNK1 GRM1 PIGT FGF12 GNA11 PALB2 MECR KCNC3 PYROXD1 RNF125 DSP GJB1 IARS1 SAMD9 DALRD3 CLCN1 MFF APC2 SLC1A4 SLC6A9 AP3B1 WAC CD3G AP3B2 FBXL4 MITF LRBA CTHRC1 NDUFS1 GPR35 GDF2 RARS1 FERMT1 NUP214 FRG1 SLC52A2 GNS TLR4 TNFRSF13B CTBP1 SNRPB SLC9A3 PMS1 SHROOM4 ARX FGFRL1 DOCK6 CHRNA3 SREBF1 GBA2 WWOX ADNP CACNA1B COL4A5 PLOD1 OPA1 TBX4 MYD88 SEC63 GIGYF2 RPS20 HGSNAT PEX16 PDGFRB GRHL2 HLA-DPB1 PARS2 CUX1 C9orf72 PI4KA FAM13A DYSF LRP5 PORCN VARS1 MT-ND3 AP2S1 FCGR2C EBF3 PLCG2 MT-CO2 ARNT2 SCO2 COQ2 HP_VENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_MALFORMATION CCM2 GLMN KRIT1 ALX4 TEK RASA1 PIK3CA AKT1 MSX2 PDCD10 HP_HEART_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEART_BLOCK TRPM4 SCN1B RRM2B GJA1 SCN5A POMT2 CALM3 NKX2-5 TMEM43 KCND3 RMRP TTR TBX5 GPD1L PEX7 SCN2B TBX20 BTNL2 MYBPC3 MMP2 ACTC1 SEMA3A TTN CTNNA3 MYH6 GPC4 CITED2 CACNB2 ACADVL SCN10A ATP6V1A AKAP9 GLA GJA5 GPX4 MYH7 EMD CDH2 GATA6 KCNE3 DES FHL1 HCN4 RNASEH1 KCNJ8 SGO1 MT-ATP8 CACNA1S PRKAG2 CACNA1C MYOZ2 BRAF PPP1CB PTPN11 BANF1 GPC3 SLC25A20 MT-TL1 PLEC MMP14 ACTN2 GABRA3 CPT2 ABCC9 SCN3B PKP2 SCN4B LMNA CACNA1D GNB5 GNAI2 ATP6V1E1 AGXT TLL1 GYG1 TNNC1 MTM1 SYNE2 HLA-DRB1 KCNJ18 LDB3 TNNI3K KCNQ1 SLMAP KCNJ5 DYSF RAF1 BVES PHYH JUP SCNN1A RANGRF PIGU GATA4 KCNJ2 CACNA2D1 MT-CYB SYNE1 KCNE5 KCNH2 DMPK HP_UPPER_EYELID_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EYELID_EDEMA RIN2 SLC29A3 FRMD4A MED12L KAT6A HP_CUTANEOUS_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY TWIST1 TP63 FGFR2 IRF6 ROR2 HOXD13 MAP3K20 MYH8 GLI3 CHSY1 CDH1 XYLT1 PAX3 CEP55 LMBR1 KIAA1109 NOG KAT6A BCOR FREM2 NECTIN4 TMEM94 MEIS2 PIEZO2 CACNA1C CTNND1 LRP4 DYRK1A FAT4 MCTP2 CREBBP ORC1 CKAP2L SLC39A8 CDH11 EP300 RBM10 TBC1D24 MEGF8 SMARCAD1 LEMD3 KCTD1 GJA1 SVBP DCHS1 BHLHA9 WDR19 CCBE1 FGF9 ANKRD11 SMO GRIP1 NECTIN1 FRAS1 HP_THORACIC_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTIC_ANEURYSM CLIP2 MLX MAT2A ERCC6 FBN2 TGFBR2 KCNH1 TPM3 PRKG1 CYP17A1 COL5A2 KMT2E DNMT3A MYT1L SMAD6 LMNA ACTA2 TPM2 TRMT1 ACTL6B CYP11B1 FBN1 SMAD4 B3GALT6 FBXW11 TGFBR1 PGM3 SVBP MED13 FMR1 B3GAT3 GTF2IRD1 GATA5 GTF2I SMAD3 COL1A1 MFAP5 POR ACTL6A FOXE3 ZMPSTE24 TANC2 KCNAB2 PRDM16 ANGPTL6 RFC2 MYPN ELN MYH11 IL12B TGFB3 MED12 SEMA3E TGFBR3 MYLK NKAP BRF1 TBL2 PKD1 NKX2-5 DOCK3 DDX6 RLIM AEBP1 ROBO4 BPTF ERCC8 CHD7 PIGN COL3A1 ENG BICC1 CARS1 PSMD12 AFF4 THSD1 SLC2A10 SKI FBLN5 BCORL1 BAZ1B LIMK1 HLA-B LOX GANAB GABRD NTNG1 TCF20 CHST3 KANSL1 TGFB2 COL1A2 COL5A1 PKD2 WDFY3 ZMIZ1 TRAPPC4 RERE NOTCH1 HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND HESX1 POU1F1 LHX4 FOXA2 PROP1 GLI2 OTX2 SOX3 HP_ANORECTAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANORECTAL_ANOMALY ABL1 WDR35 KDM6A CLIP2 HSPA9 CR2 STK11 SALL4 PIGW UBR1 TBX3 CDH11 GLI3 IL10RB PQBP1 PGAP3 CDH1 C2CD3 DLL1 TBX1 SPINT2 SUZ12 MKS1 FCGR2A CEP120 BRCA1 PMS2 PIGV KRAS COL5A2 USP9X PIGN GDF6 PTCH1 RTEL1 CCDC22 UFD1 FOXF1 SLX4 AMER1 MID1 MLXIPL FREM1 SEC23B DISP1 NODAL PIK3CA RIPK4 FGFR2 LIG4 TERT FANCB GREM1 FOXC1 SEC24C UPB1 ACADVL FAN1 TNFSF12 COX7B CD81 BMPR1A GTF2IRD1 GTF2I DOCK8 SETBP1 USF3 TGFB1 NDUFB11 FANCM COL1A1 RREB1 THOC6 POMT2 RSPO2 POR POLD1 KLLN RFC2 PALB2 MSH6 TP53 SIX3 ITGB2 MYCN HIRA DPYS RRAS2 ZIC3 SEMA3E RPS6KA3 ATP2A2 EPCAM FRAS1 JAK3 MLH3 B3GLCT TBL2 AXIN2 FGF8 NCF2 RAD51 NTHL1 FANCI MAFB WASHC5 ATN1 FOXH1 XRCC2 GP1BB CFTR MED12 CCNQ CHD7 DYNC2H1 SDHD KMT2D ADAM17 RAD51C DYNC2I2 FANCL AKT1 IL10RA SKI NBN PTDSS1 LIMK1 MS4A1 PIGL DICER1 SALL1 FANCE GATA1 POMT1 CYBC1 CYBB NAA10 INTU MNX1 PTEN CTC1 NFKB1 SPECC1L PITX2 WRAP53 GRIP1 COL5A1 MDM2 DCHS1 NHP2 MUTYH TP63 JMJD1C MSH2 INSR FUZ CHD4 DVL3 KIF7 DKC1 CHRM3 VANGL1 WNT7A FKTN POLE HCCS TNFRSF13C CYBA DACT1 RECQL4 POLR1C EGFR MEOX1 CDKN2A TERC GDF3 TWIST2 SIN3A TGFBR2 PGAP2 RFX6 EMC1 NXN FANCD2 COMT WNT3 EXTL3 MKKS BCOR CDK8 BRCA2 CDC45 SDHB BRIP1 PORCN CD96 DDX6 USB1 CTNND1 TGIF1 PIGO SMAD4 CCBE1 KCNAB2 PRDM16 PIGY PARN ENG KIT LONP1 TDGF1 ERCC4 GAS1 MLH1 EHMT1 SDHC TTC7A GLI2 FERMT1 DYNC2I1 LARGE1 FANCF TCTN3 TWIST1 KEAP1 LTBP4 TINF2 NSUN2 ELANE NPM1 NCF1 RNF43 COL7A1 SNRPB SLC25A24 ARVCF PMS1 HOXD13 ROR2 FLI1 FANCC CHN1 KMT2C ELN ISL1 NFKB2 CHEK2 PPP2R3C TCOF1 BAZ1B CDON GABRD MMP1 TNFRSF13B FREM2 RPS20 IFT80 NOP10 UBE2T RFWD3 RAC2 FANCG POLR1D SDHA FANCA MAD2L2 ZIC2 CD19 SMO MSH3 SEMA4A SHH PRKCD FKRP FAT4 PDGFRA RERE ICOS HP_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULE KIT STK11 CDKN1A ERCC3 ERCC4 PRKAR1A MEN1 ADAR TERC HLA-DRB1 BRAF KRAS CDKN1B GNAQ CDKN2C FGFR3 XPC DDB2 HLA-DQB1 RTEL1 TSC2 ACP5 MAPK1 ERCC6 NF1 SEC23B RAF1 SNAI2 PIK3CA TERT ACTB USB1 C1S ERCC5 ABCB6 C1R GNAS IFNG CDKN2B NCF2 TSC1 USF3 MAP2K2 SVBP KCNAB2 PRDM16 KLLN MAP2K1 PARN ATP2A2 ZMPSTE24 SDHC PTPN11 NONO GJB3 ST3GAL5 CYBC1 TINF2 GPNMB NPM1 GJA1 TGM5 ERCC2 PRKCD MLH1 DSTYK CSTA PIGN CYBB KDM6B SDHD CYBA TNFRSF1A AKT1 MMP2 SKI POFUT1 NCF1 XPA GJB4 GJB6 HLA-B ERCC1 INSR SDHB KITLG GABRD NOP10 SASH1 ERCC8 KDSR PTEN ELOVL4 IL6 SMARCAL1 CTC1 COL3A1 WRAP53 PORCN GJB2 NHP2 NCF4 DKC1 RERE IKZF1 KRT5 LMNA HP_KETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOTIC_HYPOGLYCEMIA GYS2 MRAP ACAD8 MC2R ACADS TXNRD2 SLC16A1 STAR NNT HP_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COUGH NME8 ACAT1 SPAG1 SFTPA1 NPM1 RPGR CFAP300 DNAH5 ZBTB16 HLA-DQB1 RSPH4A DNAAF5 SCNN1A CCDC151 NABP1 HLA-DRB1 FARSB SFTPA2 STN1 STAT5B MUC5B TCF3 BTNL2 CCDC40 PARN STAT3 HYDIN TERT CCDC114 DSP CCDC103 BLNK DLEC1 FARSA HLA-DQA1 LRRC56 PRKAR1A COPA SP110 DNAH9 PTPN22 ATP11A TTC25 RTEL1 ZMYND10 IL17RC MARS1 PML TSC1 TSC2 CFTR CFAP221 ABCA3 CCNO DNAAF6 PANK2 SPEF2 BCOR PRTN3 CFAP298 CD79B IL2RG LRRC6 DRC1 CRLF1 NOS1 SFTPC SCNN1G TBL1XR1 STK36 SCNN1B RSPH9 NEK10 CCDC65 DNAAF4 WWOX DNAAF2 COL4A6 LPIN2 RSPH1 GAS2L2 TTC12 GAS8 FOXJ1 CSF2RB IL17RA IGHM TERC EIF2AK4 RARA HLA-DPA1 ARMC4 DNAL1 DNAH11 RNF6 IL17F NUMA1 SLC11A1 COL4A5 IGLL1 CTLA4 DNAI2 HLA-B VCP LRRC8A FIP1L1 CSF2RA DNASE1L3 DNAAF1 POMT1 DNAH1 GBA HLA-DPB1 DNAJB13 PIK3R1 TGFBR2 MCIDAS FAM13A CLEC7A DPP9 OFD1 CCDC39 RSPH3 CD79A MT-CYB DNAI1 IRF2BP2 TRAF3IP2 EPOR IKZF1 DNAAF3 HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY PEX11B GRIN2A PEX2 NDE1 UNC80 RELN SLC12A2 ATRX PEX5 DENND5A LIPT2 OPA1 PEX26 PEX12 LIAS PIGS PTPN23 SETBP1 KCNQ2 PEX13 SLC9A6 PRPS1 COG7 PEX10 TBCK PSAT1 ZNF335 PEX1 PARS2 PLEKHG2 PEX3 GRIN1 PIGU PEX19 WDR4 PEX16 ASNS TELO2 CRIPT ARX PEX6 PRUNE1 FDFT1 FARS2 PEX14 MFF SLC39A8 HP_PAPILLOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLOMA ECM1 STK4 IVNS1ABP SEC23B CXCR4 TMC6 ERCC3 IGHM ERCC2 TMC8 CARMIL2 SDHD TCF3 XPC DDB2 HRAS DCLRE1C AKT1 FLT4 IGLL1 KRT16 TP53 KRT1 PIK3CA XPA BLNK NRAS LRRC8A SDHB ERCC5 FCN3 DOCK8 USF3 CIB1 PIK3R1 IKBKG PTEN KLLN CD79B MSH3 ERCC4 PORCN KRT9 IL7 CD79A SDHC HP_UNILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CRYPTORCHIDISM NFIX XYLT2 INSL3 NFIB SRY ADARB1 RNF135 HP_ABDOMINAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_OBESITY MAGEL2 ARMC5 AIP SIM1 USP8 HERC2 NPAP1 MKRN3 SNORD115-1 CUL4B BLM DYRK1B NDN SNORD116-1 PWAR1 NKAP RNPC3 SNRPN PWRN1 MTTP LIPE HP_SHORT_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALPEBRAL_FISSURE LARP7 SALL4 SMPD4 SLX4 BRCA1 LMNA KMT2A USP9X FANCD2 HNRNPH2 BPTF TUBB MAPRE2 KIF15 MADD KANSL1 BRIP1 CREBBP FANCB GJA1 TMEM107 UGDH RBM10 SOX6 KRAS ERMARD SOX11 TBX15 MOGS DONSON FANCM MEG3 ZMPSTE24 PIEZO2 MAGEL2 PALB2 SNX14 RTL1 MYCN B3GLCT ERCC4 ZNF148 TXNL4A CLTCL1 CEP57 RBPJ FANCF BCL11B UBE3B AUTS2 EXOSC2 LIFR FANCI MAFB ALX4 HUWE1 POLR1A XRCC2 SLC25A24 BRCA2 SOX9 MUSK KCNJ2 TBX1 FANCC CHN1 RAD51C STAC3 FAT4 SLC2A10 ORC1 FOXE3 SMOC1 SMC1A KAT6B EP300 CDK13 PUF60 FANCL PRMT7 FANCE SMARCA2 SMAD4 UBE2T DCHS1 RFWD3 COG7 FANCG WAC FANCA THOC6 MAD2L2 RAD51 PPP1R12A DLK1 CHD4 HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY MT-ND3 SLC19A3 NDUFA11 NDUFS4 NDUFAF5 NDUFB9 NDUFS1 NDUFS8 NDUFAF1 NDUFAF3 NDUFAF4 NDUFS3 C12orf65 KRIT1 NDUFS7 LAMA2 NDUFAF8 NDUFB11 NDUFB3 NDUFB10 TIMMDC1 NDUFAF2 CCM2 NDUFV1 FOXRED1 MT-ND2 ETHE1 NDUFS6 NDUFA6 GTPBP3 RANBP2 NUBPL AIFM1 MT-ND1 NDUFV2 NDUFA1 TMEM126B NDUFS2 PDCD10 HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION MT-ND3 NDUFA11 NDUFS4 NDUFAF5 NDUFB9 NDUFS1 NDUFS8 NDUFAF1 NDUFAF3 NDUFAF4 NDUFS3 KRIT1 NDUFS7 NDUFAF8 NDUFB11 NDUFB3 NDUFB10 TIMMDC1 NDUFAF2 CCM2 NDUFV1 FOXRED1 MT-ND2 NDUFS6 NDUFA6 NUBPL MT-ND1 NDUFV2 NDUFA1 TMEM126B NDUFS2 PDCD10 HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY MT-ND4 NDUFV2 NDUFA4 PDSS2 SURF1 MT-TW NDUFA13 GLI3 NDUFS7 MT-ND1 COQ8A SLC19A3 PRNP ECHS1 GCDH FOXRED1 ETHE1 GTPBP3 NDUFS2 SLC30A10 SDHA NDUFA10 NADK2 MT-ND5 MT-ND6 ASPA NDUFAF2 NDUFS3 MT-TL1 MT-ATP6 NDUFAF5 PET100 MTFMT NDUFAF6 MT-ND2 COQ2 NDUFS8 NDUFS1 TACO1 SUCLG1 LIPT1 NDUFA12 MT-ND3 NDUFS4 FASTKD2 NDUFA9 MT-TV MT-TK MICU1 NDUFV1 PDHA1 NDUFA2 COX15 MFF HP_ABNORMAL_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURON_MORPHOLOGY TARDBP VCP SQSTM1 VAPB PPARGC1A TYROBP MAPT SIGMAR1 ASAH1 SMN1 OPTN TREM2 UBA1 UNC13A SOD1 DCTN1 PLEKHG5 CHCHD10 ALS2 FUS GLT8D1 GRN POLR3A C9orf72 SPG11 HNRNPA1 PRPH SPG7 TRPM7 EPHA4 PRKAR1B VRK1 UBQLN2 IGHMBP2 TBK1 PFN1 GLE1 RBM28 MATR3 PSEN1 ANXA11 SCP2 ZNF335 ALDH18A1 C19orf12 PNPLA6 SETX ANG ATXN3 ERLIN2 CHMP2B NEK1 FIG4 TUBA4A PON3 ATXN2 CFAP410 TMEM106B ERBB4 KIF5A TFG HNRNPA2B1 POLR3B PON1 NEFH CPLANE1 SMN2 TAF15 DAO CCNF GBE1 CEP126 PON2 HP_CEREBRAL_WHITE_MATTER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_ATROPHY EMC1 ASPA DNM1L USP7 AIMP1 PHGDH IRF2BPL MAG ERCC6 ALDH18A1 PEX16 GFM2 HACE1 ALG11 ATP8A2 ERCC8 LMNB1 FAM126A IBA57 BCAP31 SLC35A2 GBA2 TRAPPC11 COG5 FA2H ATXN2 L2HGDH CACNA1E DPM2 DCX STUB1 PLAA OPA1 HSD17B4 HP_ORTHOPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOPNEA AK9 MUSK CHRNA1 TTN LRP4 COL13A1 TNNT2 KIF20A NKX2-5 CITED2 CHRNE CHRND FLNC TNNI3 TBX20 SCN4A AGRN GATA6 MYPN RAPSN GATA4 ACTC1 MYH6 CHRNB1 TLL1 DOK7 HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE TSEN15 TSEN34 TSEN54 SEPSECS TSEN2 HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE MT-ND4 MT-CO1 MT-ND5 MT-TW MT-ND6 MT-CO3 MT-TL1 NARS1 MT-ND1 MT-TS2 MT-TF MT-TQ MT-CO2 MT-TH HP_ABNORMAL_PLACENTAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTAL_SIZE ZMPSTE24 IGF2 RTL1 MUSK CDKN1C HMGA2 IGF1 MEG3 DLK1 PLAG1 PHGDH LMNA MKS1 TTC37 HP_NEONATAL_ASPHYXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ASPHYXIA MYF6 MTMR14 RNF168 SHPK RYR1 BIN1 GALK1 DNM2 HP_ABNORMAL_ARM_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARM_SPAN APC2 MAF NSD1 DLG4 COL9A2 COL9A1 SETD2 FBN1 COL9A3 TGFB3 HP_INCREASED_ARM_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ARM_SPAN APC2 NSD1 DLG4 SETD2 FBN1 TGFB3 HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY BAP1 GNAQ CYSLTR2 SF3B1 GNA11 LAMB2 HP_NEOPLASM_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EAR KARS1 NSD1 CHRNG SETD2 DDR2 EYA1 APC2 PRKAR1A NF2 VHL HRAS SIX1 HP_INCREASED_CUP_TO_DISC_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CUP_TO_DISC_RATIO ASB10 TRAPPC12 CYP1B1 MYOC COL18A1 HP_NARROW_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_JAW CHAT SLC25A1 MYO9A CCNK VAMP1 SNAP25 COL13A1 SLC5A7 MYOD1 SLC18A3 AGRN SYT2 HP_BROAD_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_JAW ANO5 LRP5 GPR101 SNIP1 AIP SH3BP2 HP_CORNEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_ULCERATION KIFBP ELP1 MTTP NTRK1 ZMPSTE24 PRDM12 ERCC6 NGLY1 GJB2 GSN TAT ERCC8 FOXC2 LMNA HP_ABNORMAL_NASAL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_BASE USP9X SNX14 AUTS2 BCORL1 SLC26A2 EXOSC2 TBC1D24 LIFR FIG4 METTL5 ABCA5 SIN3A VAC14 SMARCA2 HP_WIDE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_RIDGE AP4M1 METTL5 HNRNPK POLR3A SUZ12 ALX4 RPL10 MSL3 TBL1XR1 HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA IRF6 B3GLCT TBC1D20 ORC6 DVL3 TP63 RAC3 RAB3GAP1 NIPBL WNT5A OCA2 CHD7 SLC25A24 SMC1A PWRN1 CCNQ POR ROR2 SETD5 CDC6 NXN AR SIM1 DVL1 SNRPN HERC2 MKRN3 SNORD115-1 RAB3GAP2 NDN ORC1 PORCN PWAR1 RIPK4 MAGEL2 SETBP1 VAC14 ACTB RAB18 CDC45 GAD1 HDAC8 ESR2 FIG4 CDT1 FGFR2 ORC4 CTCF SMCHD1 GMNN KMT2A FZD2 NPAP1 SEMA3E RAD21 ECEL1 SMC3 SNORD116-1 POC1A UBE3B HP_NONCOMPACTION_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONCOMPACTION_CARDIOMYOPATHY DTNA SDHA RNU4ATAC MLYCD MYOCD SDHB MYSM1 SDHAF1 DNAJC19 SDHD MIB1 HP_RETINAL_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_VASCULAR_TORTUOSITY CLIP2 MT-ND1 TBL2 DGCR8 FZD4 MT-ND5 NDP TBX1 DGCR6 LRP5 GP1BB MT-CO3 COL4A1 ARVCF MT-CYB COMT UFD1 MT-ND4L MT-ND2 ELN MLXIPL SELENOI BAZ1B LIMK1 MT-ND4 SEC24C MT-ATP6 MT-CO1 GTF2IRD1 NDUFS2 GTF2I ESS2 RREB1 NEK1 RFC2 ETHE1 HIRA JMJD1C MT-ND6 DGCR2 CENPF HP_SKIN_APPENDAGE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_APPENDAGE_NEOPLASM APC KEAP1 PTEN MLH1 MSH2 DICER1 SEC23B CREBBP WNT10A EP300 CTNNB1 FLCN KLLN HP_EPILEPSIA_PARTIALIS_CONTINUA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPSIA_PARTIALIS_CONTINUA SCN1B GABRA1 POLG SCN1A STXBP1 SCN2A MRM2 GABRG2 PCDH19 TWNK SCN9A HP_OVOTESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOTESTIS RSPO1 WNT4 NDUFB11 SRY HCCS COX7B HP_ABNORMAL_GERM_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GERM_CELL_MORPHOLOGY CEP112 SUN5 CFAP69 PPP2R3C TSGA10 DNAH17 DNAH1 BRDT SPATA16 PMFBP1 SPEF2 NANOS1 SEPTIN12 CFAP251 CFAP44 GBA2 CFAP70 TTC29 DNAH2 CFAP58 DPY19L2 ARMC2 DZIP1 QRICH2 CFAP43 FSIP2 CDC14A CFAP65 KLHL10 DNAH8 FSHB HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY CEP112 GBA2 CFAP70 SUN5 CFAP69 TSGA10 TTC29 DNAH17 DPY19L2 BRDT SPATA16 ARMC2 PMFBP1 NANOS1 HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY CFAP70 CFAP69 TTC29 DNAH17 DNAH2 CFAP58 DNAH1 ARMC2 DZIP1 SPEF2 QRICH2 CFAP43 FSIP2 NANOS1 CFAP65 CFAP251 CFAP44 DNAH8 HP_ACEPHALIC_SPERMATOZOA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACEPHALIC_SPERMATOZOA CEP112 SUN5 TSGA10 BRDT PMFBP1 HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY HNF1B AR HNF4A ADGRG2 CFTR HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY NME8 CLIP2 VPS13C DNAH17 ANOS1 RPGR CDKN1A WFS1 POLA1 SOHLH1 ERCC4 NR5A1 CATSPER1 RSPH4A NANOS1 UCHL1 HNF1B SMARCE1 TTR CCDC151 ZMYND15 ALMS1 DUSP6 BRCA1 FGF17 ABCD1 DNAH2 SYCP2 PROKR2 DAZ1 RBMY1A1 CDH23 SLX4 ERCC6 DBH TEX15 M1AP CCDC114 CTNS HFE IL17RD FEZF1 FANCB CFAP298 PINK1 HEXB OCRL NSMF AR SLC29A3 TSPY1 HAMP CCDC103 GBA GTF2IRD1 CFAP410 SPINK2 ZMYND10 GTF2I FANCM PRY2 CCNO RSPH9 DNAAF6 DAZ3 RFC2 PALB2 LRRC6 CNBP GAS2L2 GUCY1A1 ARMC2 ANK1 PMFBP1 BAP1 STK36 SCP2 NEK10 XRCC2 COQ2 SYNJ1 CCDC65 SMARCB1 TEX11 DNAAF4 DMRT3 SOX3 SUN5 CFAP69 WT1 LHB TBL2 RSPH1 BRCC3 CDKN1B GAS8 FANCI SYCP3 GPR101 LMNB1 WDR11 PDGFB DNAL1 GATA4 HESX1 DNAH11 MEN1 DNAH9 CFAP58 TEX14 RAD51C BICC1 SACS FGF8 DDX3Y DNAI2 ERCC1 CEP112 LIMK1 GANAB SLC40A1 AKT1 ADGRG2 CATSPER2 DNAAF1 AIRE FANCE DNAH1 CHD7 TDRD9 TAF4B SNCA NNT CFAP70 MCM8 STEAP3 KLHL10 HS6ST1 FOXJ1 KISS1R PKD2 OFD1 BLM RAD51 PROK2 CCDC141 MC2R DAZ4 SEMA3A CDY2A STRC DNAAF3 SMO DNAAF5 SPAG1 TRAF7 TERT SPRY4 CFAP300 DCC CISD2 ATM DNAH5 AIP EIF2S3 SRY VCY PODXL STAR NDP LRRK2 NR0B1 GBA2 CDKN2C FANCD2 RPS4Y2 CCDC40 LHCGR HYDIN SYCE1 FSHB DZIP1 ANAPC1 CFAP65 BRIP1 DAZ2 FGFR1 CEP19 LRRC56 NR3C1 RTN2 SOX9 BRDT CDKN2B ZFPM2 HTRA2 CFAP221 DNAJC6 CACNA1G CFTR SPEF2 DHX37 PRY DRC1 SUFU TAC3 BMP2 DCAF17 FMR1 TACR3 VAMP7 GNRHR FANCF DNAAF2 HBB KDM5D ATXN8OS PKD1 DMPK TTC12 TTC25 NF2 MEIOB BRCA2 ARMC4 SOX10 GALC TXNRD2 FANCC AURKC HJV DNAJB13 USP9Y DNAH8 BAZ1B MRAP ELN FLRT3 FANCL ANTXR1 NDNF UBE2T RFWD3 CDY1 ERCC8 MCIDAS FANCG HSFY1 PRKN FANCA GNRH1 DHH TTC29 MAD2L2 PIK3CA CCDC39 RSPH3 PARK7 DNAI1 MAP3K1 TFR2 KISS1 WWOX BPY2 POC1A HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY TBC1D20 ORC6 RAB3GAP1 OCA2 WNT5A PWRN1 POR KAT6B CDC6 ATIC SIM1 SNRPN HERC2 MKRN3 SNORD115-1 DVL3 NDN CYP11B1 ORC1 ZFPM2 PWAR1 MAGEL2 SETBP1 ACTB RAB18 CDC45 RAB3GAP2 GAD1 DVL1 CDT1 FGFR2 ESCO2 FZD2 NPAP1 SNORD116-1 ORC4 GMNN HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY IRF6 B3GLCT CHRNG TP63 HSD3B2 NIPBL WNT5A SLC25A24 PMM2 SMC1A POR SETD5 CDC6 DVL1 NR5A1 DVL3 RAB3GAP2 CYP11B1 ORC1 RIPK4 SETBP1 VAC14 CDC45 GAD1 HDAC8 ESR2 FIG4 MYH3 CDT1 FGFR2 ORC4 CTCF SMCHD1 ROR2 GMNN KMT2A FZD2 ORC6 RAD21 ECEL1 SMC3 UBE3B LIPE HP_ABNORMALITY_OF_THE_UTERINE_CERVIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERINE_CERVIX CDKN1B STK11 COL3A1 COL5A2 COL1A1 PLG COL5A1 SRY CXCR4 HP_HANDGRIP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HANDGRIP_MYOTONIA HINT1 SCN4A DMPK ACTA1 PURA CLCN1 HP_EURYBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EURYBLEPHARON ACTB CTNND1 CDH1 DVL3 DVL1 WNT5A DLX4 FZD2 ACTG1 HP_ESODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESODEVIATION VAMP1 PIGW UNC80 CYB5R3 USP7 PGAP3 ERCC3 RNF113A NEXMIF SLC25A1 ADGRG1 KIDINS220 SOST PMM2 PGAP2 CHMP1A GRM1 TMEM216 COL13A1 EMC1 BPTF COG8 MKRN3 SNORD115-1 MADD AHDC1 SLC35C1 COL6A3 PDE4D CYB5A NEUROD2 NR2F1 MBD5 KAT8 NALCN PAK1 HMGB3 MAGEL2 KIF7 COL12A1 SOBP COL11A1 RTL1 GTF2E2 GNA14 VSX1 MEG3 ZEB2 B3GAT3 FAM149B1 NTNG2 DLK1 SALL2 HOXB1 ZSWIM6 AHCY KIF21A PEX5 SEC23A CPLANE1 PIGY BLOC1S3 DPP6 ATOH7 PDE6D SYT2 RRAS2 ERCC2 CRB1 TARS1 OFD1 OVOL2 SLC38A8 CLP1 GTF2H5 TELO2 SATB2 APC AMMECR1 PPP2R5D ALG9 KCNMA1 PHGDH DDOST KIAA0753 IARS2 HUWE1 ARHGAP31 LGI4 GALC COL6A2 PWRN1 PIGN KAT6A GLRB KDM6B SNAP25 SCN8A SREBF1 SON TBX1 HERC2 MYOD1 PYCR2 FBN1 DYRK1A COL6A1 NDN TBC1D23 PWAR1 SLC5A7 ZEB1 PIGV PIGO TENM3 MYO9A PIGL CACNA1A MPLKIP COL8A2 PUF60 ADAT3 IRF2BPL CHAT CHST3 SYT1 GRID2 TRIT1 GRHL2 AGRN RNASEH1 ATAD3A LAGE3 RRM2B PIGT TCTN3 NPAP1 RERE HPDL TUBB3 RORA GBA SNORD116-1 SLC18A3 SNRPN HP_EXODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXODEVIATION KDM1A ATRX PUF60 TYR GALNT2 ADGRG1 HACE1 CDC42 MYF5 LYRM7 SOX5 NGLY1 PRPS1 MADD SLC35A2 BCOR SLC6A8 KDM6B SPATA5 COL4A1 SON TUBB3 TBX1 OCA2 FBN1 ADNP PTRH2 PHOX2A AFF4 TAF2 NR2F1 EXOC8 TGFB3 CDH11 TGFBR1 ADD3 P4HTM SMAD3 THOC2 MRPS34 BCORL1 HADHA WARS2 SALL2 C12orf65 ACADSB SCO2 RPL10 ADARB1 DPAGT1 KIF21A SLC17A5 TRAPPC11 TMEM231 BLOC1S3 UBE3A RERE HPDL SLC25A46 ZC4H2 CRIPT FBXW11 TMEM67 FGFR3 EFNB1 TGFBR2 DNMBP NONO MC1R DYRK1A HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY SLC4A1 SPTA1 EPB42 GYPC ANK1 SPTB PKLR RHAG PIEZO1 KCNN4 EPB41 SLC4A4 HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION MADD PGK1 KCNN4 SLC4A1 PIEZO1 HP_PERSISTENT_EBV_VIREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_EBV_VIREMIA PGM3 PRKCD CD27 TET2 MAGT1 ITK HP_HYPOPIGMENTED_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_MACULE TSC1 CDKN1B ABCB6 MEN1 CDKN2C IFNG CDKN1A CDKN2B TSC2 NF1 POFUT1 NONO HP_ERYTHROCYTE_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROCYTE_INCLUSION_BODIES HBA2 RPSA PUS1 STIM1 CASK HBB G6PD HBA1 FADD GPX1 HP_HEINZ_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEINZ_BODIES HBA2 CASK HBB G6PD HBA1 GPX1 HP_UNUSUAL_FUNGAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_FUNGAL_INFECTION ZAP70 JAK3 CIITA STAT1 IL7R IL12A RFXAP PIK3CD STK4 NCF2 NCF1 PLCG2 CYBA CLEC7A IL2RG MVK AIRE RFX5 POU2AF1 SDR9C7 RFXANK CARMIL2 RAG2 ZNF341 CDH23 SPIB SREBF1 CARD9 CD3E STAT3 IL17RA BTD DCLRE1C DOCK8 IL17F MMEL1 GATA2 IKBKB TYK2 PGM3 USP8 RAG1 TFRC IRF5 TNPO3 TNFSF15 CD247 SP110 CD3D SLC39A4 CYBC1 TGFB1 AP3B1 CYBB EPG5 IL17RC WDR1 IL2RA TRAF3IP2 KNSTRN ADA IL12RB1 HP_BONE_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_FRACTURE TNFRSF11A MTAP GNAS TAPT1 TBCD ANAPC1 SLC2A2 SQSTM1 FGF23 GALT CLCN7 HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES LAMC2 LAMA3 COL17A1 LAMB3 PLEC HP_ABNORMAL_URINE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PROTEIN_LEVEL LCAT CLIP2 SLC37A4 TBC1D8B LYZ CD46 TMEM127 CTNS ERCC4 SDHB SPP1 HNF1B TP53RK ACSL4 GBA STAT3 MAFB ATP7B EPAS1 NUP133 VHL NOTCH2 AMMECR1 MT-ND1 ERCC6 ABCC8 VPS33A HNF4A MEFV CFI SLITRK6 LMX1B SGPL1 GATA3 NUP107 B2M WT1 APRT PSTPIP1 PDX1 OCRL MT-TK LAMB2 SDHAF2 GTF2IRD1 PAX2 PTPRO FH MT-TE GTF2I GSN COQ2 PLCE1 LMNB2 COL4A3 MAGI2 ITGA8 TPRKB MT-CO1 RFC2 WDR19 SLC35A1 ITGA3 MT-TS2 COQ6 PEX1 SDHD CFH GALT SLC7A7 LPIN2 NUP160 PMM2 THBD PDSS2 TBL2 CLCN5 MT-ND5 G6PC NPHS1 LRP2 NUP85 KANK2 CLCNKB HMOX1 SLC34A1 NDUFAF6 SNAP29 KCNJ11 KCNE5 MT-ND6 CFB MT-TN BICC1 FN1 TREX1 KIF1B NEU1 ERCC8 LIMK1 WDR4 SDHA GANAB SARS2 GCK DNASE1L3 SLC25A11 MT-TL1 NF1 CORIN ADAMTS13 MT-TH INF2 STAT4 SMARCAL1 MAF LAGE3 WDR73 IRAK1 MAX MYH9 PKD2 HELLPAR COQ8B FLT1 PRDX1 STAT2 ANLN SPRY2 SAA1 GLA GATM SH2B1 APOE COL4A4 NIPBL C3 PYGL SURF1 RET ACTN4 MT-TF OFD1 NOS3 FGA MT-CO3 MT-TQ FAN1 AMN PRTN3 MYO1E EHHADH GDNF MTX2 NPHS2 COL4A6 CUBN PKD1 DNMT3A DDOST MDH2 ARHGDIA OSGEP IER3IP1 HLA-DPA1 ACP5 COL4A5 MMACHC FOXC2 SCARB2 PUS3 INS STOX1 SDHC TRPC6 CTLA4 DLST ZAP70 BAZ1B ELN CD2AP SLC12A3 MT-TW PRODH HLA-DPB1 PTPN22 MT-ND4 DGKE COA8 MT-CO2 APOA1 HP_DISTAL_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_JOINT_LAXITY PYROXD1 COL6A1 COL6A2 COL13A1 COL6A3 ALG2 PLOD1 COMP HP_ABNORMAL_SARCOMERE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SARCOMERE_MORPHOLOGY TNNT1 SQSTM1 ANO5 RYR1 TTN FXR1 ACTN2 LAMA2 HP_REFLEX_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REFLEX_SEIZURE CLCN2 AP2M1 JRK EFHC1 CHD2 GABRA1 SCN1A STXBP1 SYNGAP1 SLC6A1 PCDH19 CACNB4 SCN1B SCN2A SLC9A6 GABRD GABRG2 KCTD7 CILK1 KCNQ3 SCN9A HP_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_SEIZURE DCPS IQSEC1 JRK ATXN10 ALDH7A1 FBLN1 ELOVL4 STRADA NEXMIF SLC25A15 LONP1 KCNQ2 SLC9A6 STAT3 C12orf4 SPATA5 KCNA1 GRIN1 MMACHC ZNHIT3 EPM2A TSEN15 MT-TF HIBCH KANSL1 PIGQ ZMYND11 NTNG1 GABRG2 ARHGEF9 SIK1 SLC25A10 PDX1 SEPSECS TAOK1 GBA CACNB4 SETBP1 TGFB1 MYT1L HYMAI GABRD MT-TQ AFG3L2 FRRS1L SLC25A22 BRAT1 NTRK2 NUS1 ASH1L MT-TV CRADD CEP85L CUX2 CLCN2 TSC1 PCYT2 CHD2 DEAF1 PLCB1 WASHC4 PCDH19 MT-ND1 SLC45A1 MBOAT7 TBC1D24 NGLY1 BRSK2 ADGRV1 SDHAF1 SCN2A MT-TS2 CPLX1 SCN1A PYCR2 WDR45 SDHA MT-ND5 FBXO31 GLB1 CDKL5 GRIK2 CILK1 SARS1 MT-TL1 GCK GRIN2A SCN1B FOXG1 SMARCA2 MT-TK KCNMA1 CDH15 PURA ACSF3 NDUFA1 DHX37 NARS1 GAMT DALRD3 SMS KIF1A DOCK8 CAMTA1 GALC ZC3H14 RAB11A MED12L STXBP1 NSUN2 PRDM8 KDM5B PCDH12 NHLRC1 ASAH1 PTPN23 KCNQ3 PIGA CLTC MECP2 SMC1A TSC2 PSAP EHMT1 HIVEP2 PRRT2 MED25 CAMK2A PPP3CA DYNC1H1 IFNG UGDH TRPM3 PGAP1 ALDH5A1 MT-ND2 PDHA1 TUBA8 MAN1B1 RPL10 GNAO1 EDC3 DMXL2 DCX LMAN2L MT-RNR1 DNM1L GRIN2B KCNQ5 MT-TP MT-TW MAPK10 NDUFAF8 KIRREL3 HACE1 ST3GAL3 SLC35A2 GABBR2 CACNA1D NSD1 GABRA5 EEF1A2 CNPY3 ADGRG1 DPM2 RALGAPA1 SET RSRC1 SPTAN1 SLC19A3 CIC COQ5 SRPX2 EXOC7 GABRA1 TECR SDHB KNSTRN UBE3A PIGC TRAPPC9 SCN9A MT-ND4 ATP6AP2 MFSD8 PHACTR1 COX4I1 EXTL3 STX1B GCDH AP2M1 CARS2 BTD CLIP1 HCN1 VPS53 AP3D1 MAPK1 ABCC8 MBD5 PAFAH1B1 NDST1 PLAGL1 SAMD12 EFHC1 ARX MED23 SETD1B ALG13 CRBN CSNK2B CACNG2 MTHFR PRSS12 GABRB3 GUF1 PNKP MED13 CAMK2B FMN2 PIK3CD RNF13 NEU1 CACNA1A TSEN2 APC2 PSAT1 SCN8A KCNJ11 CDH2 PTRH2 TSEN54 ATP1A2 MT-ND6 RNU4ATAC GAD1 OPHN1 SETD2 METTL23 MT-ATP6 EPB41L1 CDK19 NEUROD2 KCNT2 KCTD7 GRIA2 GOSR2 SYNGAP1 PIGT DOCK7 SDHD CC2D1A PIGP HNMT SLC12A5 TRIM8 EXOC8 NDE1 B3GALNT2 BUB1B SLC6A1 MT-TI TUSC3 ACTL6B SLC1A4 PRICKLE1 TNIK EZR CLCN4 LINS1 MT-TH PIGM MFF AIMP1 TBCD PHGDH IER3IP1 COX8A CASK DYRK1A TSEN34 INS TMX2 DHX16 HK1 TRIT1 DNM1 GRN CUX1 PI4KA CHAMP1 TANGO2 TMEM231 COG2 MT-ND3 CSNK2A1 TRAPPC12 TCF4 LNPK DHDDS HP_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONIC_SEIZURE TBC1D24 GNAO1 FRRS1L DMXL2 SRPX2 PCDH19 GABRG2 SLC25A22 ACSF3 KCNQ2 GABRA1 PSAP KCNA1 KCNQ3 PIGP SCN2A SCN1A DPM2 CASK SCN8A KANSL1 TRIM8 PIGQ SCN1B PRRT2 SIK1 STXBP1 ARX SLC12A5 GRIN2A NEUROD2 GRIA2 CDKL5 PNKP SCN9A HP_ABNORMAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_MORPHOLOGY NOD2 LCAT KDM6A CLIP2 CR2 JAK2 CYP7A1 UBR1 PUF60 GJA5 HES7 PCSK9 CXCR4 DLL1 SF3B4 KCNH1 GGCX SHANK3 PRKG1 BRCA1 FGFR1 PEX12 ZFPM2 TTC37 MGP SIX3 CFI GNAQ CCDC22 LIPC NOTCH2 TBX1 EOGT ELN ENPP1 ABCC6 GLB1 CCDC114 NOTCH1 KANSL1 NODAL TGFBR1 STAT4 GJA8 NPC2 NPHP3 GDF1 DISP1 SLC29A3 IL23R CCDC103 FMR1 PLD1 UBA1 HTRA1 TSC2 DHCR7 CBS SMAD3 FANCM NDE1 ADA2 HYMAI THOC6 ACTL6A RNU4ATAC KCNJ8 WT1 ARX WDR37 LRRC6 FN1 BSCL2 RPS26 FIBP EP300 STAT3 ABCA1 FOXF1 BPTF BRF1 TBL2 DGCR8 FBN1 BRCC3 IGFBP7 GAS8 GPC3 SEC61A1 COX7B GATA4 TSC1 ROBO4 XRCC2 SOS1 GP1BB MYH11 GAS1 APP LMX1B CD244 CCNQ DNAH9 KCNE5 SALL4 UBAC2 BICC1 COG4 CARS1 MASP1 GPC6 FLT4 XYLT2 ALX4 BRAF SKIV2L TREX1 ACTB KIF1B NEK8 VAC14 GUSB FASLG LIMK1 TRAF7 TP63 RPS15A DNASE1L3 DNAAF1 HGD GJA1 UQCRFS1 FTO COL18A1 TGFB2 NOTCH3 SPECC1L LARS2 NADSYN1 SNX10 C4A RAD51 GALC MT-ATP6 DVL3 EFEMP2 CHRNG WRN MLX GLMN SHH TNFRSF13C ENG NT5E NCAPG2 RBM8A SIX6 WIPF1 TGDS COL4A1 KMT2E FANCD2 COMT MKKS CDK8 ANKS6 MARS2 CCR1 RPL11 RPS19 MED25 ERCC2 MRPS16 RPL10 NAA10 CRKL DIS3L2 ABCG8 BUB3 CAT PIGL HPGD PQBP1 SPEF2 TMEM67 RAB23 RIT1 RPS10 PRTN3 PIK3CA CRELD1 TRAIP C12orf57 B3GLCT EXT2 XIAP PRKCSH CFAP53 AKT1 NONO DNAAF2 MSX2 DLL3 SIK3 LTBP4 SLC25A24 RBM10 AMMECR1 PKD1 DNAH1 ERAP1 CSF2RB TTC25 XYLT1 AEBP1 HLA-DPA1 RNF213 ATP7A FLNA NSD1 ERCC5 RPS28 FOXC2 FANCC TNFRSF1A KMT2D PSMD12 LDLR NFKB2 THSD1 RRAS PTPN22 PPP1R17 PPP2R1A ZEB2 TRIP11 TLL1 CDON MEFV KAT6B FOS HLA-B SLC39A13 CSF2RA STRA6 SC5D ANTXR1 HNRNPK GATA6 MYOC RPL5 WAC ATP6V0A2 WDR35 MAD2L2 TEK ZIC2 EPHB4 NKX2-5 KNSTRN LMNA CCDC39 WDFY3 PYCR1 RERE TMCO1 NME8 SMPD1 KRAS TMEM127 ERCC6 TGFBR2 LDLRAP1 DGCR6 MKS1 CCDC151 RRAS2 CAVIN1 CD96 FAS USP9X MYT1L PIGN UFD1 TCIRG1 SLX4 AMER1 SMAD4 TRMT1 ACTL6B KAT8 MT-ND5 RAI1 TNFSF11 PLAGL1 KDM3B PGM3 TBC1D24 ADK ZNF462 TNFSF12 HIBCH MED13 INTU GTF2IRD1 ZMYND10 SCN10A VHL NEK9 ESS2 DNAAF6 PRPF3 ESCO2 TRRAP RPL15 RFC2 SERPIND1 PALB2 MYPN TMTC3 ANK1 GMPPB KIF5A ZIC3 FBN2 SEMA3E TGFBR3 ADAMTSL1 HRAS DNAAF4 DYRK1A ESR1 BCR PKD1L1 ADAR SOX18 PIK3CD FGF8 DDX6 ARPC1B WASHC5 FOXE3 ZMIZ1 GATA1 DNAH11 ACVRL1 SON SOX2 PTPN11 MT-ND4L ABCD4 CDH2 PNP SSR4 BMPR2 EPHX2 MCTP2 MYH7 SCN11A TNXB EHMT1 ASAH1 COL1A1 CCBE1 SETD2 WDPCP FANCE CHST3 PRDM6 KCNN3 COL2A1 RIN2 MAF NEK1 NKX2-6 IL12A-AS1 CTU2 COL5A1 MAX MAP1B CFC1 MVK JMJD1C CBL STAG2 CRTAP RPL27 SPAG1 GALNT3 ADAMTS3 DLL4 ERCC4 RSPRY1 MYOCD DDX59 NDP LZTR1 NRAS CYP17A1 WAS MPL SMAD6 HYDIN MMP2 SLC2A10 ACTA2 TBX5 SVBP AGXT ZNF687 PROC HYOU1 RPL35A ARL6IP6 POR PRDM16 RPS7 DRC1 GDNF NEU1 SH2D1A TGFB3 TDGF1 GATA5 CEP57 TFAP2B AGPAT2 NEDD4L ADAT3 FANCF PEX19 SUFU MMP14 PRKACB PCGF2 ERMARD RLIM RNASEH2A GLI3 CHD7 ARVCF DACT1 FLI1 APOA5 HDAC4 NF1 PPARG AFF4 ABCC9 TALDO1 IL6 FBLN5 BAZ1B COQ4 KLRC4 ZMPSTE24 SAMHD1 FANCL MED13L CRB2 SALL1 FGFR3 MYCN DNAJB13 POLR1D TMEM231 NPC1 LFNG CD19 FKTN FKBP14 RSPH3 IDS PAH UMPS TRAPPC4 GBA PLOD1 DPM1 ICOS ABL1 RNASEH2B STAT1 IFT43 IFIH1 BUB1B TRIP4 VEGFC CALM3 RSPH4A ARFGEF2 PKP2 PDGFRB FARSB ABCG5 BCOR TSR2 IGBP1 SCN9A MEIS2 MLXIPL CITED2 RSPO2 CYP11B1 AGGF1 SELENOI PDCD10 B3GALT6 FBXW11 SEC24C RBPJ OTULIN CD81 GTF2I YY1AP1 PTEN NDUFB11 CCNO MT-ND2 PRKCD IL12B MYLK KYNU NEK10 CCDC65 SLC20A2 SOS2 TELO2 SRCAP RSPH1 GAS2L2 DOCK3 SNX14 ALX1 WNT4 EIF2AK4 RASA1 DNAL1 ARHGAP31 MNX1 MAP3K7 COL3A1 CREBBP DYNC2LI1 DHCR24 DNAI2 RYR2 C2CD3 PTDSS1 MFAP5 MS4A1 CYP27A1 NR2F2 RASGRP1 MT-ND4 GJC2 DTNA NTNG1 TCF20 IL12A UBE2A COL1A2 MT-CO3 GAA SMARCAL1 NFKB1 PTCH1 LOX NFIX RNASEH2C ALMS1 MRAS PKD2 OFD1 DNAAF3 MEGF8 HCCS MAT2A SDHB NID1 PCNT TKT POLR1C DNAAF5 MAP2K1 FAT4 DNMT3A TMEM94 RBP4 SMC1A POLR3A ACVR2B ALG8 MESP2 PSAP DOCK8 DYRK1B SMG9 CHRM3 IFNG PIGA B3GAT3 NLRP3 LEMD3 PIEZO1 DDX11 PIK3R2 CTCF MAPK1 KCNAB2 SOX10 ANGPTL6 LIPA RIPPLY2 WDR19 ERCC3 MED12 STXBP1 RSPH9 DGCR2 SRY ATP6V1A TMEM260 PIGY KAT6A CDC42 RET ERCC8 RPS24 ALG12 ARMC4 SLC35A2 ACP5 PRKAR1A WDR26 RPL18 CTLA4 TBX20 CTSA GABRD ALDH18A1 SLC12A3 TNFRSF13B PBX1 TRIP13 APOE LRRC56 UBE2T KCNJ5 RAF1 ATP6V1E1 MT-ND1 PIGT NFKBIL1 DNAI1 TSFM TCF4 CSGALNACT1 PACS1 FANCB PADI4 RPGR PPP1R15B TPM3 ACSL4 CEP120 RASA2 COG6 COL5A2 APOA2 THPO ARID1B TPM2 VPS33A BUB1 EXT1 HEXB JAG1 ARF1 BMPR1A IL10 PLCB3 PDGFB RREB1 USP18 TANC2 CFAP298 RPL35 RPL31 HIRA MT-ND6 POLR1A ZNF148 FLNB STK36 PEX1 NKAP BCL11B TGIF1 FZD4 BEST1 SNRPN LIFR A2ML1 FANCI GPC4 GLI2 CASP10 ASCC1 FOXH1 LRP5 RPL26 CLCNKB RAD51C PROS1 POU3F4 SKI BMP2 GANAB POLA1 MMP21 PTH1R MYH3 PHGDH TBX2 GHR PLOD3 SMOC1 FOXJ1 SLC22A4 DLK1 CHD4 SDHD MST1 RAC1 CFAP300 GUCY1A1 DNAH5 APOB KRIT1 MYRF TULP1 MT-CYB NXN CCDC40 SMC3 FOXC1 RPS17 GM2A CACNA1C BRIP1 FADD EED CEP19 SAMD9 BGN CAV1 FIG4 HOXA1 APC2 NPPA CFAP221 MPI MEG3 RTL1 PAM16 IGF2 PPP1CB GPR35 GDF2 BANF1 FGFR2 CLCN7 TTC12 TLR4 SNRPB CYP1B1 BRCA2 ROR2 DOCK6 G6PC3 NSMCE2 ALX3 RPS29 TAB2 TBX4 TCOF1 MYD88 BCORL1 HEXA SEC63 ADAMTS10 HLA-DPB1 RFWD3 MCIDAS FANCG CCM2 FANCA PORCN RPS27 CIITA UBE3B ECE1 HP_ARTERIAL_RUPTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_RUPTURE COL1A2 PLOD3 COL3A1 COL5A2 COL1A1 FKBP14 PLOD1 COL5A1 HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE PADI4 IL6 STAT4 PTPN22 ARPC1B POMP IL1RN SPP1 PRKCD MVK NLRP3 MEFV HLA-DRB1 MIF IL2RA CD244 HLA-DPA1 TNFRSF1A NLRP12 ADA2 TREX1 PTPN2 CTLA4 LACC1 ANKRD55 CASP10 MYD88 NOD2 CD247 SLC29A3 COPA PSMB8 PSMB9 PSMB4 UBA1 IL10 HLA-DPB1 STING1 IL2RB PRTN3 IRAK1 MTTP NFKBIL1 TGFB1 IFNGR1 LPIN2 SLC22A4 CIITA ITK HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY AP1B1 WDR35 KDM6A CLIP2 CR2 NODAL UBR1 CDH11 CDKN1A IL10RB ARMC9 CXCR4 AGA DLL1 SF3B4 RMRP SUZ12 DMD ZFPM2 HLA-DRB1 BRCA1 PMS2 CFTR GDI1 CTLA4 TTC37 KRAS ATP7B SIX3 NPHP3 TCF3 DISP1 RTEL1 CCDC22 EOGT ELN B9D1 RAD21 PSPH CCDC114 PEX6 NOTCH1 IDS SOX10 ZBTB24 STAT4 FGFR2 LIG4 AKT1 MSH2 B3GALT6 HDAC8 KRT18 OTC MT-TK SLC29A3 IL23R ARHGEF6 F12 CTRC CCDC103 SLC12A2 MT-TE KIFBP NSD2 DHCR7 CBS ASXL1 TGFB1 FANCM ADA2 THOC6 KATNIP LMOD1 ERCC4 MYF6 POLD1 ARX APC LAMA3 LRRC6 MSH6 NEFH ALG3 EP300 PHKA2 FOXF1 EPCAM IL1B JAK3 MLH3 TBL2 DHODH MT-ND5 GAS8 NCF2 GPC3 PEX5 PEX26 ATP8B1 MITF XRCC2 GP1BB UPF3B GAS1 LMX1B POU2AF1 RFWD3 CCNQ NRTN DNAH9 TMEM237 MT-ND6 SALL4 FLNA DYNC2I2 UBAC2 NHP2 IQSEC2 RAD51C LAMC2 SKIV2L VAC14 LRRC8A NBN LIMK1 PTCH1 SHPK EDNRB DNAAF1 MBTPS2 MT-TL1 GATA1 POMT1 AHI1 COL18A1 POLG LBR SPECC1L PITX2 ADAM17 EWSR1 WDR73 C4A RPS15A RET DNMT3B BLM RAD51 YY1 DVL3 SMC3 EFEMP2 KIF7 DKC1 PHOX2B CHRNG CIITA GLMN SHH TNFRSF13C ENG SEC23B PDGFRL SLC46A1 CISD2 PAX3 RECQL4 ITGB4 MEOX1 SPINK5 CBLIF SIN3A PGAP2 SIX6 WIPF1 SLC6A19 CARMIL2 FANCD2 COMT DYNC2H1 MKKS HMGA2 CDK8 MINPP1 MADD CCR1 RPL11 MECP2 RPS19 EDN3 SLC30A10 MT-TF C12orf65 DLEC1 EPHX1 TCTN1 GLIS3 CRKL DIS3L2 BUB3 TMEM216 TDGF1 GLA SMAD4 PQBP1 GDNF PEX10 SPEF2 SEMA3C RPS10 PRTN3 CNKSR2 B3GLCT BMPR1A EHMT1 SLC6A5 NOTCH3 IL12RB1 KIT ALDH18A1 DNAAF2 MCM6 MCC LTBP4 RBM10 NSUN2 HMBS CDK4 ERAP1 WNT3 TTC25 RNF43 COL7A1 FGF8 CEP120 SLC25A24 PTEN LIPA SERPING1 NDUFB11 HLA-DPA1 ATP7A CYBB NSD1 RNF6 RPS28 FRMPD4 TTC7A FANCC CHN1 TNFRSF1A NFKB2 IGLL1 GLI2 DLK1 RUNX1 GJB6 HLA-B PIBF1 ZEB2 HABP2 SDHB CDON MEFV KRT8 TNPO3 MT-TW FCN3 IFT80 FGFR1 AMACR NOP10 ZIC2 HNRNPK DCHS1 GATA6 RPL5 WAC WNT2B HCCS PLVAP MAD2L2 TEK COG8 FTSJ1 PTPN12 HCFC1 CCDC39 CD79A PPP1R12A TMPRSS6 NCF4 SMARCD1 FRAS1 RERE RTL1 POLA1 NME8 CLCA4 PEX11B STK11 TBX3 SBDS MLH1 HPGD DOK7 PGAP3 CDH1 DCTN4 MKS1 CCDC151 FCGR2A CAVIN1 PIGV CDKN1B STAT1 MTMR14 FAS USP9X PIGN UFD1 SLX4 AMER1 IL21 PTPRJ ACTG2 IRGM RIPK4 SRCAP LEMD3 PIK3CA KDM3B GREM1 PGM3 ITCH FOXC1 TNXB FAN1 TNFSF12 SLC5A1 GTF2IRD1 CD55 ZMYND10 OPLAH DOCK8 ABCC2 DNAAF6 IL6 POMT2 TPRKB DMP1 SRSF2 LCT KLLN RPL15 RFC2 PALB2 TMTC3 BACH2 TP53 DPYS ZIC3 FBN2 MT-TS2 SEMA3E RPS6KA3 TWNK TGFBR2 F13B DNAAF4 MUTYH RHBDF2 NLRC4 HPS1 DYRK1A TYMP BCR LPIN2 CYBC1 L1CAM IVNS1ABP ARPC1B LRP2 WASHC5 KITLG TMEM138 DNAH11 ACVRL1 TCTN2 SDHD SUFU CHEK2 SOX2 CYBA SLC39A4 BUB1 EXOC6B SMAD3 CEP41 TNFSF15 CCBE1 FGFR3 DICER1 SETD2 POT1 EFL1 SRC FANCE CCR6 SMAD7 NAA10 CYP7B1 RARB MGMT SATB2 MYH11 IL12A-AS1 PTRH2 GRIP1 COL5A1 BRCA2 CBL MAP1B CFC1 MVK JMJD1C HSD3B7 FOXH1 PTCH2 INSR STN1 GUCY2C IKZF1 CPLANE1 RPL27 SAA1 SPAG1 IL12A ERGIC1 ADAMTS3 FREM1 DLL4 ASCL1 EGFR LAMB3 ZNF81 DDX59 GPHN NEK9 CDKN2C CTNNB1 WAS EXTL3 HYDIN BCOR SLC2A10 ARNT2 GREB1L SRP54 PLA2G4A DZIP1L ERCC2 PORCN SEMA3D USB1 MPI ATRX PSTPIP1 CCDC28B HYOU1 MT-TQ NIPBL FANCB RPL35A PIEZO2 PRDM16 PIGY RPS7 DRC1 IL2RA LONP1 TFAP2A PEX16 CEP57 SDHC NEDD4L CLCN4 CENPF FANCF COL4A6 NRAS ALG13 TWIST1 AP1S1 CDCA7 TINF2 ELANE PPP2R5D DMPK PHGDH COX7B ERMARD NPHP1 ZNF423 STAG2 STS GLI3 PTCHD1 ODC1 CHD7 ARVCF ACOX2 DACT1 FLI1 SERPINH1 PLG ASCC1 HDAC4 ISL1 RRM2B PPP2R3C PIGO BAZ1B ECE1 BRAF SLC18A3 KLRC4 FANCL WFS1 SALL1 ANTXR2 MYCN STRA6 DNAJB13 TERF2IP TGIF1 POLR1D HNRNPU MYLK CD19 ITGA6 RELA TLR2 MSH3 SEMA4A KLHL7 RSPH3 FKRP PAH PDGFRA RBM8A ICOS ABL1 ZAP70 PIGW BUB1B RSPH4A PRKAR1A TBX1 SPINT2 ARFGEF2 PMS1 TMEM231 FARSB TSR2 CHST14 GDF6 GLRB MT-ND1 MLXIPL CDKN2B RIPK1 CPLX1 PEX2 OCRL SEC24C UPB1 RBPJ BDNF ITGA8 CD81 GBA GTF2I DLC1 SETBP1 USF3 AXIN2 CCNO FBLN5 PKD1 RSPO2 COX4I2 MT-CO1 PRKCD KIF3B PALLD XIAP NEK10 CCDC65 SMC1A ATP2A2 WWOX SLC7A7 RSPH1 GAS2L2 STXBP2 CC2D2A NPHS1 FGF20 VWF AURKA IGHM PET117 GLRA1 PEX13 TRAPPC11 DNAL1 ARHGAP31 MNX1 MASP2 MAP3K7 CREBBP PHKG2 IL10RA DNAI2 HRAS PTDSS1 XRCC4 MS4A1 FAH WDR4 CYP27A1 MTM1 NUP88 SNAI2 RASGRP1 AIRE DNAH1 CCDC47 KANSL1 MYO1H INTU CTC1 NFKB1 ARL6 BIN1 ENPP1 PEX3 NOTCH2 OFD1 CEP104 FUZ PEX14 DNAAF3 ADAMTS2 TREX1 STX3 SLC6A8 POLE POLR1C DNAAF5 MEN1 ABCB11 CSPP1 CDKN2A TERC PERCC1 F5 PROKR2 PAK3 EIF2AK3 RFXANK JUP FAT4 SPIB PNLIP FOXE1 LETM1 ALG8 CDC45 GBE1 COL14A1 MMEL1 DSP F13A1 CHRM3 CD96 STAT3 BLNK IL1RN TGFBR1 ABCB1 SPINK1 MYC MT-CO3 AKR1D1 WNT4 AGTR2 ACD PIEZO1 CLMP TP53RK MAPK1 KCNAB2 ACTA2 STXBP1 RSPH9 TJP2 ATAD1 TNFAIP3 KEAP1 NPM1 NCF1 ZNF41 SOX3 KAT6A BTK MYO5B FLCN RPS24 OSGEP ARMC4 SLC9A7 PKHD1 KMT2C JAK1 RPL18 MUSK CXorf56 INAVA TGFB3 MTOR IRF5 GABRD MMP1 TNFRSF13B FREM2 CCN2 BAAT TRIP13 FH TGFB2 MC1R UBE2T RAC2 PTPN22 PLA2G2A SDHA C1R MT-ND4 RAD54B SH3KBP1 AAGAB GJB2 TERT HESX1 DNAI1 MEG3 PEX12 WT1 TCF4 PIK3C2A FOXP3 PPOX HSPA9 RPGR C2CD3 SMO CPOX ALMS1 SH2B1 RPGRIP1L COG6 COL5A2 ARID1B BAP1 CARD8 MID1 INPP5E SI B2M NUP133 NOD2 ACADVL ARF1 IL10 PRSS1 CAV1 COL1A1 GPIHBP1 RREB1 DNAJC21 ZMPSTE24 TBCE POR ABCB4 CFAP298 MSR1 CD79B RPL35 TRMT5 RYR1 SETD5 TET2 ITGB2 RPL31 HIRA PLEC RRAS2 VPS51 STK36 DLG3 MTTP DGAT1 SLC10A2 NTHL1 SLCO2A1 FANCI EYA1 MAFB GPC4 DSE CASP10 ATN1 TMEM67 MED12 RPL26 NEUROG3 ARL13B KMT2D BAX SKI STAT5B SAR1B SLC2A2 PIGL MMP21 OTX2 MYOD1 DNM2 PRSS2 FLNB MYH3 MT-TH ACSL4 COL3A1 WRAP53 MDM2 FOXJ1 TP63 DHCR24 CHD4 PTF1A HYLS1 FASLG VANGL1 WNT7A MST1 FKTN BCL10 CFAP300 PACS1 DNAH5 MIR17HG MYRF PIGT GDF3 TWIST2 RFX6 IL2RB EMC1 NXN CCDC40 GPC1 PEX19 RPS17 STX1A RFX5 SYP BBS1 BRIP1 DDX6 MID2 CTNND1 IARS1 PCSK1 LRRC56 SAMD9 EFTUD2 FIG4 APC2 ZNF711 CFAP221 CD3G KMT2A LRBA PARN CTHRC1 KIAA0586 GPR35 GDF2 FERMT1 DYNC2I1 LARGE1 TCTN3 RAPSN TTC12 TLR4 CCND1 NEK1 CTBP1 SNRPB SLC9A3 LMNA TSPAN7 RAB39B DCC HOXD13 ROR2 ARL3 FGFRL1 DOCK6 RFXAP RPS26 HNF1B JAK2 LAGE3 AK2 USP27X COL4A5 RPS29 SIX1 TCOF1 MYD88 RPS20 PDGFRB HLA-DPB1 PIK3R1 MCIDAS FANCG RTTN FANCA IL1RAPL1 PEX1 GNAS RPS27 CEP290 PLCG2 NUP107 MT-CO2 HNF4A HELLS UBE3B HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS NDUFAF3 MT-ND5 SURF1 MT-TW MT-CO3 MT-TL1 C12orf65 MT-TQ NDUFS2 MT-TH HSD17B10 MT-ND4 NDUFB8 SUCLG1 MT-CO1 MT-ND6 COG8 HPDL MT-ND1 MT-TS2 MT-TF MT-CO2 SCO2 DNM1L HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS NGLY1 PSAP GALC CNP GRM7 HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS TBCK NGLY1 PSAP ASPA GALC CACNA1G CNP GRM7 SLC35A2 HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY EDNRB EDN3 MITF PEX1 ANOS1 MKS1 SOX10 PIGA HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME SLC11A2 KIF23 RPL11 SLC4A1 SPTB MMADHC CBLIF EFL1 RPS24 GATA1 TSR2 RPL26 HBB RPS26 RPS28 SBDS RPS17 TRNT1 TET2 MTRR RPL5 RPS19 GLRX5 RPS29 KCNN4 RPL18 ANKRD11 SRP54 RHAG NHLRC2 PIEZO1 ADA2 SLC25A38 DNAJC21 RPL35A RPS10 RPL35 RPL15 STEAP3 RPS7 RPL31 RPS27 RPS15A LPIN2 ABCB6 SAMD9L MDM4 RPL27 SAMD9 HP_DECREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME HBB SLC11A2 STEAP3 TRNT1 NHLRC2 SPTB LPIN2 SLC4A1 GLRX5 SLC25A38 HP_INCOMITANT_STRABISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMITANT_STRABISMUS FBXW11 PIEZO2 DNM1L SVBP DOCK3 DDX6 MED13 RLIM MN1 HOXA1 NTNG1 TCF20 SALL1 EP300 BPTF ZMIZ1 CCNQ ACTL6A KIAA0586 TANC2 KMT2E MYT1L SALL4 CREBBP CHN1 WDFY3 PSMD12 TRMT1 ARX ACTL6B TRAPPC4 OPA1 CSPP1 BCORL1 HP_ABNORMAL_QRS_COMPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_QRS_COMPLEX PRKAG2 JUP TMEM43 DMPK SVIL HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY CYP26C1 ATP6V0A2 ATP6V1E1 ATP6V1A EFEMP2 FBLN5 HP_FOLLICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULITIS IL10RA IL17RA IVNS1ABP IL10RB XIAP MBTPS2 KRT17 HP_BLOODY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLOODY_DIARRHEA BMPR1A GREM1 APC KIF23 CDKN1B ACVRL1 WAS CDKN1A ENG CDKN2B CD109 SMAD4 EGFR GP1BA GP1BB TGFB1 ATRX WIPF1 TTC37 MEN1 ITGB3 SREBF1 CDKN2C DAXX PLVAP ADAM17 ITGA2 TTC7A PTEN CARD8 IL10RA ITGA2B F5 SKIV2L HPS1 HP_EPIDERMAL_ACANTHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_ACANTHOSIS LIPN ALOX12B DSP ENPP1 CERS3 GJA1 TGM1 NLRP1 MBTPS2 EXPH5 SMARCAD1 EGFR KRT10 IL1RN GRHL2 SERPINB8 CYP4F22 IL36RN KDSR KRT1 KRT6C NIPAL4 JUP GJB3 POGLUT1 AKT1 CLDN1 SERPINB7 WNT10A KRT13 ATP2A2 CARD14 CAST CIB1 CSTA DSG1 AAGAB ALOXE3 HP_EYELID_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_MYOCLONUS GRIN2B CAMK2B KDM5B PPP3CA KCNQ5 CIC GRIN1 DYNC1H1 DEAF1 CAMK2A TRPM3 TAOK1 KIRREL3 EPB41L1 ASAH1 MYT1L CDH15 CSNK2B SLC6A1 CUX1 BRSK2 DHFR CLTC CHAMP1 CACNG2 EEF1A2 KIF1A ASH1L DOCK8 SYNGAP1 TCF4 MBD5 SET RORA HIVEP2 ZMYND11 RORB RAB11A MED12L STXBP1 HP_DYSGENESIS_OF_THE_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS DNAL4 DCC SCN1A STXBP1 PCDH19 SCN1B GABRA1 TUBB3 SCN2A RAD51 GABRG2 NTN1 SCN9A HP_CAPILLARY_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_MALFORMATION CLIP2 TBL2 PUF60 PIK3CA PLP1 WNT5A NEK9 NOTCH1 RASA1 RBM8A ROR2 TEK GNAQ NXN LTBP2 DVL1 SMC3 ASXL1 FGFR1 NF1 DVL3 KRAS MED25 DIS3L2 CYP1B1 BAZ1B MYOC MTOR LIMK1 ELN NAA10 H19 IGF2 GTF2IRD1 KCNQ1 KCNQ1OT1 GTF2I CDK10 CDKN1C RFC2 FZD2 KLHL7 HP_SOUND_SENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOUND_SENSITIVITY BAZ1B CLIP2 LIMK1 ELN TBL2 AUTS2 DEAF1 GTF2IRD1 GTF2I IQSEC2 EP300 SLC1A3 GM2A TNF RFC2 FLII ESR1 CREBBP RAI1 MLXIPL EDNRA MFF HP_HYPERGRANULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGRANULOSIS LIPN ALOX12B ENPP1 CARD14 GJB3 CERS3 GJA1 POGLUT1 SERPINB7 WNT10A DSG1 LORICRIN PNPLA1 SDR9C7 AAGAB ALOXE3 HP_FETAL_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_DISTRESS MT-ND3 NDUFA11 NDUFS4 ABCB4 NDUFAF5 NDUFB9 NDUFS1 ENPP1 ALDH7A1 RPL11 ATAD3A NDUFS8 NDUFAF1 NDUFAF3 NDUFAF4 IL1RN NDUFS3 SLC6A9 ABCC6 NDUFS7 NDUFAF8 NDUFB11 CTCF NDUFB3 NDUFB10 TIMMDC1 NDUFAF2 OSTM1 NDUFV1 FOXRED1 ATP8B1 SON MT-ND2 NDUFS6 NDUFA6 NUBPL MT-ND1 NDUFV2 NDUFA1 TMEM126B NDUFS2 HP_FINGER_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SWELLING OCRL MMP2 PSMB8 PSMB9 PSMB4 HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL BNC1 CTDP1 WT1 TRAF7 NDNF TERT NUP107 FSHR PSMC3IP SOX9 GNRH1 NR5A1 NF2 LARS2 SMARCE1 PDGFB GATA4 BMP15 LEP CYP17A1 CYB5A AKT1 ZFPM2 SRY XRCC2 MRPS22 POR DHX37 BAP1 DHH SUFU POLR3A LEPR DCAF17 PIK3CA POLR3H NR0B1 SPIDR TP53 MAP3K1 SMARCB1 VAMP7 DMRT3 WWOX SMO FSHB HP_CONSTITUTIONAL_SYMPTOM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTITUTIONAL_SYMPTOM TP53 NOD2 CLIP2 CR2 JAK2 COL2A1 VCP TRDN CDKN1A SCN9A TPO PCSK9 C11orf95 PPARGC1A SCNN1G DMD KCNQ1 PRKG1 KIF5A SLC9A6 DDIT3 HLA-DRB1 PMS2 CFTR CALM1 GDI1 KRAS TCF3 BTNL2 DIS3L2 XPC DDB2 SCN4A RTN2 HNF1A TNNI3 BCL10 HNF4A PLN CAV3 STAT4 DNMT1 PSTPIP1 ARSA ALOX12B MT-TK ATRX IL23R ARHGEF6 F12 CTRC PIEZO1 SBF1 GBA2 MT-TE CASQ2 UBA1 HTRA1 TSC2 SMAD3 POMT1 DSE GNPTG IL18BP MYF6 MSH6 HPDL UFSP2 NLRC4 TBL1XR1 PHKA2 MSTO1 NLRP3 CYP4F22 EPCAM GABRA1 FDX2 AKAP10 ABCB4 MLH3 TBL2 SPTB LHX4 POLG2 PROP1 CCND1 AMPD3 TECRL RARA CLCF1 GP1BB NKX2-5 UPF3B MYH11 EPB41 TIMM50 DSTYK IL2RA POU2AF1 CD244 SDHD NRTN MEN1 POLE CTLA4 SLC34A1 COL17A1 UBAC2 IQSEC2 BICC1 POMGNT1 SYNE1 FITM2 CASQ1 TREX1 IDH2 ABL1 FUS LACC1 LRRC8A LIMK1 MET AKT1 ANO5 WNT1 DNASE1L3 HGD FIG4 SLC25A11 CLCN7 CSRP3 CORIN LDB3 TRPS1 POLG GLI2 PRKAG2 TGFB2 CCNF NOTCH3 SLC44A1 STEAP3 MALT1 EWSR1 IRAK1 IL2RB CPT2 GPR101 SNX10 C4A ATP13A2 BAP1 PON2 TRPV4 EPOR ANK2 SPINK1 MLX TNFRSF13C LBR ENG TET2 SCN5A AIP PDE8B TYROBP HSPG2 PTPN22 MVK NABP1 SCNN1A WIPF1 CDC73 CARMIL2 KIT TBX20 COMT FGF23 MYBPC3 MINPP1 RYR2 CCR1 FTL MECP2 DLEC1 PDE11A GNA11 AUH PEX11B PRKAR1A CRKL ABCG8 ENPP1 CAT GLA SMAD4 HPGD ABCD1 GDNF FERMT3 SEMA3C PRTN3 CNKSR2 IGHMBP2 TREH FLVCR1 BRCA2 TNFRSF11A BMPR1A SLC34A3 CD247 EXT2 PRKCSH IL12RB1 ALDH18A1 HBB ATXN8OS HESX1 MCM6 NR3C1 TRAPPC2 TICAM1 PKD1 HMBS ERAP1 BNC2 BRCA1 NF2 GATM COL7A1 HACE1 TTN SERPING1 PNPLA2 HLA-DPA1 SCN4B DNA2 ATP7A ANK1 ACADM RNF6 TXNRD2 FA2H RB1 LHX3 FRMPD4 TNFRSF1A LDLR SLC26A4 NFKB2 IGLL1 STOX1 SDHC RUNX1 HLA-B DLST IDH1 ZEB2 HABP2 TLL1 VDR PGAM2 MEFV TGFBR1 ELN ENO3 COL11A2 PRKRA TNPO3 HNRNPA1 SCARB2 C1S AMPD1 ERCC4 DCTN1 LPL SYNJ1 FTSJ1 SQSTM1 CLDN16 GCK LMNA HCFC1 CD79A STIM1 MORC2 SDR9C7 SLC12A3 MFN2 KIF1B HLA-DQB1 SRP54 STK11 MMADHC BCR DNM1L CPOX MAT1A POMP PODXL TGFBR2 CAVIN1 CDKN1B MTMR14 SPTA1 CASR F8 EPAS1 STAT3 UFD1 TCIRG1 CYP27B1 CDH23 ACTG2 PTPN2 GABRG2 TNFSF11 GNAS TNXB TRIM28 FAN1 DUOX2 KCND3 VSX1 TNFSF12 TBX19 SDHAF2 FAS GTF2IRD1 CD55 EPHA4 OPLAH VHL TSC1 ABCC2 PYGM IL6 CACNA1C EMD DMP1 SRSF2 RFC2 TGFB1 CRLF1 MYH7 CCDC78 PDCD1 RBCK1 ANKRD55 HPS1 TYMP ESR1 CFH LPIN2 IVNS1ABP ASXL1 HADHB GNAQ TK2 GCH1 FLI1 ALG10B PDGFB NEK1 EYA4 TMEM126B NDUFAF6 USP9X NAGS AP5Z1 PON3 DPP6 REST TRPA1 SDHA TNFSF15 COL9A1 COL8A2 GATA2 HADHA PSMB9 CITED2 NEFH CCR6 NOTCH2NLC ZNF469 DAO RIPK1 ALDOB IL12A-AS1 SCNN1B CBL JMJD1C HELLPAR SLC40A1 SCN10A IKZF1 SMO SAA1 LRP6 IL12A KIF23 EIF2AK2 VAPB CYP19A1 ERCC3 ABCA12 ZNF81 RET GCGR CHST3 STX16 CDKN2C WAS MPL DNAJC19 ARNT2 CALM2 LDLRAP1 PLEKHM1 SEMA3D ERCC5 DSG2 MMUT CHRND KRT17 SLC18A3 PSMB4 MIEF2 ZNF687 PLP1 PROC ZC4H2 KRT16 CACNA1G FOXE3 ABCC6 DYSF CAPN3 MYL2 SPAST ORAI1 GLE1 TGFB3 KIF11 MLH1 CLCN4 KCNH2 COL4A6 SLC2A1 ALG13 MME MYH6 ELANE DMPK PIK3CA TBCD MDH2 ERCC2 ATXN10 PTCHD1 RAD51 ARVCF DACT1 PRNP SH2B3 SLC39A14 SLCO2A1 GALC PSAP NUMA1 HSPD1 ADA2 ISL1 ATXN2 RRM2B GUCY2C CFAP410 PREPL SLC16A2 CYSLTR2 CALR KCNE1 BAZ1B ATP8B1 MRAP ECE1 FIP1L1 KLRC4 PON1 CAPN1 NGLY1 VANGL2 HS6ST2 TBX18 BVES ATM CD19 FKRP ACADVL IFNGR1 SEMA4A BIRC3 TAB2 MYL3 CRPPA IRF2BP2 PHEX FARS2 PDGFRA ANG SLC25A4 ICOS CD28 CASK CD46 GFI1 NEXMIF TBX1 SMARCE1 PKP2 PDGFRB SEPTIN9 KCNE2 ABCG5 STAT5B SNTA1 EPB42 KY CPT1A ACTC1 HFE MLXIPL APRT DGUOK CYP2R1 SPG7 DCC SEC24C CFI PSMB8 OTULIN CD81 GTF2I PML COL9A2 ATXN3 HBA2 COL9A3 NTN1 MATN3 BCOR RETREG1 SLC25A13 FHL1 PALLD IL12B HARS1 COL11A1 COQ2 SLC20A2 SMARCB1 OVOL2 FBN1 MYLK WWOX RYR1 ALAD ARMC5 TNFRSF11B DSP DMGDH CHRNA2 SLC4A1 SOX10 IGHM RELA EIF2AK4 TSHR TRAPPC11 SCN1B SCN11A OPTN MAFB PRSS1 MLYCD LMNB2 DAXX G6PD UBQLN2 CTSK COMP SACS COL3A1 PHKG2 SFRP4 AGXT TRIO HRAS SLC18A2 GABRB3 MFAP5 MS4A1 GPD1L TRIP13 SALL1 DTNA SIGMAR1 COL1A2 MNX1 EDN3 ACSF3 NNT RNASEH1 ALB NFKB1 GPC3 BIN1 COL5A1 SLC26A2 CACNA2D1 PKD2 COQ7 FSHR MC2R FUZ NOP56 FLT1 SLC5A5 GJC2 PRDM8 ALOXE3 MTHFD1 TRAF7 MAT2A TBX6 CHST6 FGFR1 PLEC GBA STUB1 PGK1 SLC3A1 CTNS MIF F5 PROKR2 PAK3 PRDM5 SPIB CEL KL COG5 FOXE1 VANGL1 CPA1 TBXT BCL2 ALS2 SDHB PTPN3 MMEL1 C1QBP TREM2 BLNK TWNK CCL2 PTPN11 USP8 MT-TL1 PKDCC CDKN2B PIGA MYC AGTR2 LEMD3 ABCB11 SELENBP1 TTR TRAF3 MAPK1 TNFRSF1B TBK1 SUFU POLR3A HBA1 INSR WASHC5 TLR3 IFT57 NOS1 TNNT2 FMR1 CA2 TAZ DLL3 APC MAX ZNF41 PIGY SOX3 CFAP43 BTK CHMP2B IL1RN DPM3 PPARG SLC25A26 CPT1C SLC9A7 ACP5 PKHD1 EDNRB PAX8 GNAI2 MAN2B1 GBE1 OPA3 CXorf56 NOTCH2 ZEB1 ERBB4 LOX TNNC1 IRF5 FOXA2 CLCN5 MMP1 CALM3 TNFRSF13B CCN2 GRHL2 ATP7B AKAP9 KCNJ2 NFKBIL1 PTEN PTH1R EHHADH KRT6A WT1 TCF4 MEF2A GNE KCNJ5 PPOX UNC93B1 FOXP1 SPG11 PADI4 NPM1 HPSE2 ZBTB16 SULT2B1 TMEM43 SPP1 NR1H4 ALMS1 NKX2-1 DNAL4 NIPA1 COL5A2 UNC13A SOD1 CARS2 THPO CHCHD10 GLT8D1 CARD8 DKK1 ACTA2 REEP2 TGM1 TRPM4 POU1F1 PRSS2 SI EXT1 TG STAT6 B2M ERLIN1 HLA-DQA1 LPIN1 HEXB CDKN2A IL10 TRIM32 RPS6KA3 FH CAV1 COL1A1 LRIG2 RNU4ATAC SERPINF2 TRHR RREB1 CD79B GATA6 C9orf72 CNBP DES PMP22 PNPLA8 HIRA PFN1 DLG3 ASAH1 TSHB JRK ATL1 NOS1AP MYH3 CLCNKB NIPAL4 TH NLRP12 MT-ATP6 PROS1 GHSR H19 MMP2 SLC2A10 XPA TARDBP ACAD9 DUOXA2 COL10A1 CTNNB1 GANAB C19orf12 OTX2 SYNE2 DNM2 MSMO1 PGM1 POU6F2 NF1 MED12 ACSL4 TAF15 ABCA1 JUP NTRK1 GATA4 CLCN1 TP63 SLC22A4 MSH2 HOGA1 LDHA ACAT1 PHKA1 MST1 GYPC COX6B1 TERT SF3B1 PYGL ASPN DNAJC6 SOST RASA1 CYP7B1 STAR BSCL2 PALB2 ANKH KCNC3 IYD SERPINA6 SYP PANK2 DDHD2 MID2 CACNA1H ZFYVE26 TMEM127 DBH COPA PRPH GNA14 LIPN ZNF711 SLC1A4 PRKACA CDH2 MITF BMP2 ZMPSTE24 MATR3 ANXA11 MYOT APOB GPR35 MDM4 TLR4 DNMT3A GALNT2 RNF168 ALAS2 HAVCR2 TSPAN7 PMS1 RAB39B BCL6 NSDHL PIGT DOLK TBP HMGCL AGK WNT3A ADNP USP27X SLC11A1 COL4A5 ARX FKTN OPA1 MYD88 SEC63 LMX1B HNRNPA2B1 TEK RPS20 HLA-DPB1 FLNC PIK3R1 RBM20 SOX2 NAB2 STING1 CHEK2 IL1RAPL1 LRP5 PORCN MTTP DSC2 MYLK2 KRT6B AP2S1 PRKCD KCNN4 PLCG2 TFR2 CIITA MESP2 SVIL HP_CHILLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILLS TBK1 SLC4A1 UNC93B1 SPTA1 EPB42 GYPC ANK1 HADHA SPTB TICAM1 HADHB PKHD1 TLR3 MVK NLRP3 HAVCR2 EPB41 TRAF3 HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY SCYL1 PEX11B MT-ND4 NDUFS4 SMPD1 UBR1 SURF1 PCK1 SLC25A15 IFT122 SMAD4 UQCRC2 ALMS1 FARSB CCDC115 LARS1 BCS1L ATP7B HBB BTNL2 CPT1A RTEL1 EPM2A PEX6 TERT PEX2 ITCH OTC ADK SP110 PTPN22 OCLN TJP2 MARS1 CEP164 HFE ENG MRM2 IL18BP USP18 ABCD3 NR1H4 TRMT10C MRPS7 RYR1 ALG9 MT-TV VPS51 F13B ASAH1 GALT SLC7A7 ALG1 TMEM67 PEX5 PEX26 MT-ND1 INPP5E GFM1 PEX13 POU2AF1 LIPT1 PCK2 ACVRL1 DAXX CPT2 MT-TT CACNA1S HADHB NAGS MT-TN GATC GANAB ACAD9 MT-ND6 FAH AKR1D1 MTM1 TNFSF15 MT-TL1 MT-ATP6 HLA-DRB1 MICOS13 CCDC47 CYP7B1 NDUFS2 ATRX COG7 CYC1 CTC1 IARS1 HADHA LARS2 WRAP53 PEX3 NHP2 AMACR HSD3B7 MT-TK DKC1 PEX14 IKZF1 RNU12 RPGRIP1L MST1 IL12A CC2D2A PEX12 NHLRC1 TERC COQ2 F5 IFT172 TTC37 EIF2AK3 SPIB GPC1 SLC25A20 PEX19 HADH ALG8 POLG GBE1 MMEL1 F13A1 DGUOK DDOST JAG1 SLC39A8 USB1 NDUFAF3 PEX10 FADD MPI POLG2 MT-ND2 BLVRA SC5D OSTM1 ATP6AP2 LIPA PARN MRPS23 SH2D1A ALDOB PEX16 GBA XIAP GPR35 GDF2 IL12RB1 MPV17 TINF2 LYST NPM1 MT-TW FBP1 FH SERPINA1 FECH NDUFB8 TFAM ACADM RINT1 JAK2 SLC2A2 HMGCL IL21R COG4 QRSL1 NBAS TALDO1 MT-ND5 DLD HLA-B STT3B MEFV IRF5 TNPO3 NOP10 TMEM199 ALG6 RMND1 PEX1 PARS2 COG2 TRMU PORCN NPC1 MT-ND3 MOGS SLC30A10 COA8 TCF4 SCO2 HP_HYPERAUTOFLUORESCENT_RETINAL_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION IDH3A KIAA1549 PRPH2 GUCA1A KIF3B C8orf37 GUCY2D HP_ABNORMAL_TEMPER_TANTRUMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPER_TANTRUMS MAGEL2 SIM1 NDN PPP2R5D SNRPN USP7 GBA CTNNB1 OCA2 CTCF TACO1 ADNP PACS1 TUBB2B HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION PPCS POLG DYSF POMT2 DMPK ENPP1 ZMPSTE24 RRM2B GTPBP3 TTN ABCC6 LAMA2 POLG2 SLC25A4 TWNK SGCG LMNA HP_HONEYCOMB_LUNG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HONEYCOMB_LUNG SFTPA1 MUC5B DPP9 PARN ATP11A TERC RTEL1 SFTPC SFTPA2 DSP ABCA3 TERT FAM13A STN1 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET CLCN2 JRK EFHC1 PCYT2 GAD1 CHD2 GABRA1 STXBP1 ADGRG1 COQ5 TMX2 SLC6A1 SEPSECS GBA PCDH19 CACNB4 CPLX1 NARS1 ASAH1 SCN2A TBC1D24 PURA SLC9A6 GABRD TSEN2 CILK1 KCNQ3 AP2M1 SCN1A GABRA5 COX8A VPS53 UBE3A TSEN15 SCN1B TSEN34 TSEN54 EXOC8 GABRG2 SCN9A HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION LPL ATP6V1E1 ATP6V0A2 ATP6V1A MTTP HP_CUTANEOUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_CYST MSX2 CTNND1 ZSWIM6 APC KRT6A KRT17 SYT1 KRT16 TSC1 TSC2 KRT6B TFAP2A ANTXR1 CDH1 CEP57 ALX3 VANGL1 HP_DERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMOID_CYST MSX2 SYT1 ZSWIM6 ALX3 TFAP2A VANGL1 HP_SNORING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SNORING AHDC1 GNAI3 EDN1 PLCB4 GPR101 HP_STUTTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STUTTERING MT-ND4 MT-CO1 MT-ND5 MT-TW SCYL1 MT-ND6 MT-CO3 CHD3 MT-TL1 MT-ND1 MAPT MT-TS2 KANSL1 MT-TF MT-TQ AP4E1 MT-CO2 MT-TH HP_ABNORMALITY_OF_ESOPHAGUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ESOPHAGUS_PHYSIOLOGY CLIP2 NODAL NFIX PUF60 TRAK1 CDKN1A DLL1 ATRX QDPR SETX MAP3K7 SHANK3 SLC9A6 ATXN7 ACOX1 SLC1A2 IRF5 ATP7B DISP1 PARN GRIN1 CCDC22 SCN4A MAPT PSPH CTNS CREBBP POGZ PAK1 MAGEL2 NPC2 TOP3A HDAC8 BMP4 SEPSECS ATXN2 FMR1 SPG7 SLC12A2 XRCC1 SPART TSPYL1 NSD2 NEB DHCR7 ASXL1 SIX3 ADH1C SEC23A KIAA0586 RAD21 HPDL TP63 VPS13A SYT2 EP300 SFTPC MT-TV TANGO2 MYORG MSX1 TBL2 SLC19A2 POLG2 GABRA2 FXN CHAMP1 DEAF1 TERC ACTB GALC GP1BB CHAT BRSK2 LMX1B UBB MCEE TCF4 PSEN1 ORC1 IDH2 NUP62 LIMK1 VAMP1 PTCH1 IRF6 RELN GRHL3 MSL3 SIK1 GRM7 GAS1 FOXG1 NDUFS2 POLG COG7 CACNA1A ATP1A3 EXT2 NOTCH3 SLC44A1 PANK2 GMNN SPECC1L PAX7 ACTA1 RET BLM YY1 YWHAG DMPK GFPT1 SMC3 SLC18A3 RAB11A MED12L STXBP1 CHRNE KDM5B TARDBP PIEZO2 CENPT LBR RRM2B EPRS1 ITGB4 GMPPA GNAO1 NCAPG2 PMP22 NR4A2 OPTN CHMP1A CDC73 CARMIL2 REEP1 COMT KCNB1 RLIM HRAS FA2H MADD DLG1 RPL10 AARS1 DAB1 TECPR2 TRPM3 GRIN2D FLCN TDGF1 RTEL1 GCH1 SLC46A1 MT-ND2 PDHA1 COL13A1 UBE3A CYP7B1 SYNJ1 GBA EHMT1 SLC6A5 PRKCSH DCX CHRNA1 ALDH18A1 NONO ATXN8OS NUS1 LTBP4 LRP12 KIRREL3 COL7A1 FGF8 SLC25A24 SERPING1 ATXN3 PLA2G6 FLNA NDUFB8 NSD1 TAF1 EEF1A2 LAMB2 SCARB2 SCN3A DNAJB6 SET GLI2 MT-ND5 GEMIN4 HLA-B IDH1 ZEB2 CDON ELN CIC PRKRA STAG1 SPOP GABRA5 FGFR1 MYPN SRPX2 ZIC2 PCNA TPM2 GNB5 KNSTRN SHH PYCR1 FGFR3 RERE KIT SEC31A NUTM2B-AS1 DNM1L SURF1 TUBB4A NTRK2 ERCC6 HLA-DQB1 CAV1 KIAA0319L FTL CAVIN1 GCDH ABCD1 VPS35 PIGN TTBK2 UFD1 KIF1A FLAD1 MAPK1 DDC AMER1 POLR3A MT-ATP6 TPM3 MBD5 TK2 GABRB2 ACTG2 GLUD2 TUBB6 SMC1A ANKRD11 POLR2A FUS AR GNAS ATP11A SLC5A7 GTF2IRD1 SZT2 CSNK2B PYGM RFC2 PRPS1 TMTC3 GUCY1A1 SNCA MRPS25 CRLF1 PTS NALCN SEMA3E PRKCG KCNQ3 MAP2K2 DYRK1A TYMP ORC6 PLEC PIK3CD CDKN1B ERLIN2 PRPH WASHC5 SPG21 TSEN2 HCN1 CDK19 SON DLX4 VAPB ABCD4 SSR4 TSEN54 LINGO1 PLP1 MT-ND6 MT-TL1 SETD2 POLR3B EIF4G1 NEPRO EPB41L1 CCR6 FBN1 GDAP2 PNKD KCNQ2 SATB2 DPP9 KCNK9 MRPS28 MAP1B JMJD1C SYNGAP1 FOXH1 VAC14 IKZF1 NRXN1 SLC25A1 ASCL1 SLC35A2 HSD17B10 GPHN CDKN2C ALS2 RHBDF2 TERT COLQ NEUROD2 STUB1 MYH7 NECTIN1 SDHB PLAA ARID2 CAMK2B CHRND HPRT1 ZC4H2 NIPBL CACNA1G KBTBD13 PRDM16 PFN1 LONP1 TFAP2A RYR1 MATR3 CLCN4 RAI1 KCND3 DCTN1 NEDD4L SLC52A3 ADAT3 COL4A6 TWIST1 ASPA PCGF2 TBCD SLC13A5 PLXND1 PHGDH ERMARD NDUFS3 PHOX2B STAG2 NEK1 TBP ATXN10 CHD7 ARVCF CYFIP2 ASCC1 CDC6 LMNB1 HPCA KLHL40 SYT1 TSEN34 AFF4 ZFYVE26 PIK3R5 CSPP1 PABPN1 BAZ1B COQ4 MYOT MYO9A BRAF TBK1 WARS2 NGLY1 SALL1 TIMM8A LAMA2 TGIF1 NPC1 OCA2 KLHL7 NEFH ADCY6 FARS2 PDGFRA SLC25A4 DHDDS ARV1 SQSTM1 HTT TRIP4 ATP7A NEXMIF TBX1 ARFGEF2 GABRG2 FARSB FCSK KMT2A MUC5B KY MEIS2 SKI HNRNPH2 GLRB NDUFAF2 TSEN15 MLXIPL VCP ZMYND11 NECAP1 DGUOK CPLX1 OCRL SEC24C TBC1D24 TAOK1 SYT14 GTF2I SCN8A SETBP1 MYT1L TGM6 AFG3L2 SLC25A22 MPZ UBQLN2 GNAQ ASH1L NPHS1 MT-ND1 GLRA1 SELENON ATP13A2 SNAP25 SACS ADD3 CNTNAP2 IRF2BPL SIGMAR1 CCDC47 C12orf65 CDH15 KCNA2 AGRN RNASEH1 HIVEP2 COL5A1 LRRK2 DOCK8 UBTF MT-TK PDE8B NF2 ARHGAP29 NOP56 ADAMTS2 SFTPA1 MED17 USP7 KLHL41 ASAH1 CNTNAP1 SLC2A3 CLTC LETM1 PSAP SMG9 TWNK UBA5 NDUFAF3 PPP3CA DYNC1H1 CDKN2B PIGA RETREG1 HOXB1 PIEZO1 PGM3 CTCF KCNAB2 PDP1 CHCHD10 YARS2 NOS1 REPS1 ATAD1 GRIN2B PRNP KCNQ5 CAMK2A MT-TW DDOST NDUFA6 KAT6A CDKL5 ERCC8 SDHD KAT6B MACF1 KMT2C WDR26 ADGRG1 PUS3 TBC1D23 CNKSR2 SDHC GABRD SLC19A3 MMP1 CAMTA1 CCN2 ORC4 B4GALNT1 SDHA SNCAIP ACTL6B KIF5A DNM1 SCN9A EXOSC9 PACS1 SPG11 MT-ND4 WFS1 SLC6A3 REV3L ALMS1 SH2B1 MYMK COL5A2 CARS2 DNAJC13 FLII STAC3 MID1 ELP1 CRYAB SOD1 MECP2 HLA-DQA1 MRPS34 ARF1 MEGF10 SFTPA2 ZSWIM6 ABCA3 COL1A1 RREB1 MSR1 CACNG2 CYP27A1 HIRA TRMT10C NDUFA9 NF1 FIG4 ECM1 ADAR LIFR TIMM22 NEU1 DDHD2 ATN1 SOX5 SETD5 DKK1 FBXO7 TRAPPC12 LMOD3 SLC2A10 ATP6V1A PPM1D ATXN1 APP CDH1 C19orf12 MGME1 IQSEC2 NTRK1 IRX5 MED12 ITCH MYH8 WNK1 GRM1 PIGT FGF12 STN1 MECR KCNC3 PYROXD1 RNF125 DSP GJB1 SAMD9 DALRD3 CLCN1 MFF APC2 SLC1A4 SLC6A9 AP3B1 WAC MEN1 AP3B2 FBXL4 CTHRC1 HLA-DRB1 NDUFS1 RARS1 FERMT1 NUP214 FRG1 SLC52A2 GNS CTBP1 SNRPB SHROOM4 ARX FGFRL1 CHRNA3 GBA2 WWOX ADNP CACNA1B COL4A5 OPA1 TBX4 SEC63 GIGYF2 HMBS HGSNAT PEX16 GRHL2 PARS2 CUX1 C9orf72 PI4KA FAM13A DYSF LRP5 PORCN VARS1 MT-ND3 EBF3 ARNT2 SCO2 COQ2 HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY RSPO1 ALOX12B TP63 FOXP1 JAK2 COL17A1 HPGD SCN9A TRIP4 TMEM127 ERCC4 SDHB COL6A1 PNPLA1 SHANK3 COG6 EPAS1 VHL THPO RTEL1 KIF1A PHOX2B HNF1A GDNF DDC ERCC6 ELP1 BCL10 HNF4A CTNS KDF1 SOX10 KRT1 TRPV3 TERT HEXB CDH23 PTPN22 ALOXE3 SDHAF2 ABCC8 FH CLCF1 FLRT1 PKP1 EDAR IKBKG CLDN10 RETREG1 SRSF2 ARX TET2 ASCL1 IL12B KRT9 FUCA1 MEN1 GJB2 COL11A1 DST COQ2 SDHD LAMB3 LAMA3 ASXL1 KRT14 SLCO2A1 PRDM12 GABRA3 ALX4 COL6A2 GPR101 WNK1 LMNB1 TGM1 RIPK4 SERPINB7 CLCNKB GHR COL6A3 ITGB4 HINT1 WNT10A KIF1B PLAA KCNA1 CTSB CASK ERCC8 SLC18A2 SDHA OTX2 KRT5 SLC25A11 MBTPS2 SLURP1 STS BRAF KCNJ18 NF1 CERS3 SPR IGF2 SMARCAD1 CTC1 SUCLG1 WRAP53 MALT1 NTRK1 KRT17 MAX NHP2 CBL ITPR2 CSTB CRLF1 DKC1 EDARADD GLA MLX ZFHX2 AIP GMPPA FGFR1 TERC ABCA12 RET PROKR2 CUL4B MPL HNRNPK ARNT2 MADD SCN11A USB1 STIM1 EDA GNA14 ST14 NGF NFKBIA MAP2K2 KRT16 SPTLC2 IGHMBP2 PARN ALDOB CACNA1S MAP2K1 TAT ADAT3 DSG1 PRNP TINF2 KRT6A NPM1 KLC2 CST6 SOX3 DNMT3A MDH2 NIPAL4 UCP2 TRAF6 TSPEAR ROGDI BCS1L KCNJ11 SLC13A5 PERP SDHC JUP NLRP3 RUNX1 GJB6 DLST HLA-B NECTIN1 EDA2R LIFR H19 LAMC2 SLC12A3 HMBS EDN3 FAM111B NOP10 NGLY1 ALPK1 ELOVL4 SOX2 KCTD1 KRT6B BIRC3 HESX1 TP53 POLA1 HP_CERVICAL_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_LYMPHADENOPATHY SLC29A3 ELANE RASGRP1 RAC2 TNFRSF1A HP_MALAR_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_RASH STAT4 STING1 DNASE1 SPP1 PTPN22 TREX1 CDK10 CTLA4 FCGR2B IRAK1 FCGR2A CASP10 HP_OVARIAN_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CARCINOMA RAD51C TP53 PALB2 DMPK SUFU PALLD BRCA2 BRCA1 CDKN2A KRAS PTCH1 SMAD4 PTCH2 PTEN HP_ABNORMAL_ARTERIAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY GLA RNASEH2B CLIP2 JAK2 MLX GUCY1A1 ENG SCNN1B MAT2A NKX2-5 SPP1 SCNN1G TGFBR2 SMAD4 RASA1 NT5E ALMS1 SCNN1A PRKG1 COL5A2 TET2 COL4A1 SAMHD1 TBX20 MPL THPO MYBPC3 ACP5 SLC2A10 ACTC1 ACTA2 CCR1 MYH6 RNF125 COL1A1 STAT4 CTNNB1 ACVRL1 ENPP1 FKBP14 TP53 IL23R KRAS PTPN22 PIGA ACTG1 IL10 FAS GTF2IRD1 HTRA1 COL1A2 TREX1 GTF2I CBS SMAD3 IKBKG FOXE3 ACTB PRTN3 ANGPTL6 RFC2 PIK3CA GATA6 ELN MYH11 CRELD1 IL12B ZMPSTE24 TGFB3 TGFBR3 GDF2 FBN1 MYLK ADAR TBL2 BRCC3 ERAP1 TLR4 RNASEH2A XYLT1 ABCC6 APP HLA-DPA1 RNF213 CLCNKB SON COL3A1 UBAC2 NAGS ADA2 XYLT2 SERPINC1 THSD1 PLOD1 CTLA4 AGXT LBR CALR BAZ1B LIMK1 HLA-B MFAP5 MEFV TGFBR1 LOX KLRC4 SLC12A3 COQ2 GATA4 MYH7 CITED2 IL12A BRAF HLA-DPB1 NR2F2 SH2B3 STING1 NOTCH3 SMARCAL1 TGFB2 PLOD3 RNASEH2C IL12A-AS1 COL5A1 IRAK1 C4A PIK3C2A TLL1 IFIH1 LMNA HP_UPGAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPGAZE_PALSY TWNK ATXN1 POLG FTL DLAT PLA2G6 VPS13A KCNC3 ATP13A2 HP_DELAYED_ABILITY_TO_STAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_STAND DPM3 COL12A1 GAA DLAT ALMS1 SCN2A PHEX HP_DELAYED_ABILITY_TO_SIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_SIT INPP5E NARS1 EXTL3 PCYT2 DAG1 PLP1 UGDH FOXG1 GALNT2 WDR26 VPS35L VPS51 TUBB3 GAA HK1 PAFAH1B1 TRIO NGLY1 ALMS1 WASF1 POLR2A HP_RED_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_EYE TP63 LBR SAMD9 ERCC4 ERCC3 RNF113A ERCC6 DDB2 CD19 SREBF1 ICOS WIPF1 STX16 TNFRSF13C TCF3 BTNL2 WAS GNAS BTD USB1 SCN9A CCR1 VPS33A RNF125 NLRP3 ERCC2 XPC BLNK STAT4 FGFR2 FOXC2 B2M TKT UROS TFRC MPLKIP GTF2E2 IL23R PSMB8 PSMB4 IL10 FAS AP1B1 GSN ERF CD79B LRBA TNFRSF1A GJB2 RAG1 TARS1 IGHM MMP1 FERMT1 CR2 GTF2H5 ERAP1 TLR4 BTK IARS2 AEBP1 ERCC8 MAPT GATA1 KAT6A TNFRSF13B PLG UBAC2 SLC39A4 XPA IGLL1 COL7A1 FOXE3 HLA-B ERCC1 SHMT2 LRRC8A NOD2 MEFV NLRP1 KLRC4 DNASE1L3 PSMB9 MBTPS2 AIRE HLA-DRB1 IL12A PIK3R1 GJB6 RAG2 HLCS STX11 IL12A-AS1 MTTP IGSF3 C4A CD79A POLH DKC1 MAB21L1 IKZF1 HP_LUPUS_ANTICOAGULANT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUPUS_ANTICOAGULANT STAT4 ADA2 TNFAIP3 SPP1 IRAK1 HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION MAPK1 SEMA6B CHD8 KMT2C POLR2A HP_ABNORMAL_CELLULAR_PHENOTYPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELLULAR_PHENOTYPE ZAP70 CR2 NDUFS4 CD28 NDUFA4 ZP2 ATP5F1E PDHX IFIH1 SQSTM1 NDUFA13 MCOLN1 FANCE ERCC3 CXCR4 COX6A2 C11orf95 FDXR IL6R PEX5 IL2RG ACADM TNFRSF11B TBX1 SMARCE1 SETX RMRP NADK2 HLA-DRB1 BRCA1 MS4A1 CTLA4 TTC37 NFU1 FANCI NDUFV1 RAG2 TCF3 NCKAP1L MTOR FUS MT-ND1 HIBCH SLC35C1 VCP FMR1 ICOS CTNS NDRG1 PREPL ZBTB24 DNMT1 PIK3CD RIPK1 PRF1 SLC25A10 PSTPIP1 SEC24C TFRC BRIP1 PSMB8 SP110 OTULIN CD3D CD81 IRF2BP2 PET100 TGFB1 FANCM SLC25A13 MRM2 PPM1B NDUFB10 ERCC4 FANCB MT-CO1 PRKCD MT-ND2 NDUFA12 FANCC XIAP STAT3 RYR1 PDHA1 SMARCB1 GATA3 SLC3A1 TSC1 JAK3 SLC7A7 IL7R PALB2 EPG5 DGCR8 DCLRE1C MT-ND5 IRAK4 NFKB2 STXBP2 IGHM PET117 MYD88 RELA XRCC2 GP1BB TBK1 TIMM50 LIG4 POU2AF1 NDUFAF2 MRE11 TXN2 SLC34A1 IKBKB CPT2 HELLS MT-ND6 TNFSF12 ECHS1 UVSSA GATC CFTR SKIV2L NDUFA1 POLG2 ERCC8 MT-ND3 FASLG LRRC8A NBN XRCC4 MT-ND4 KLHDC8B NLRP1 MPLKIP AKT1 PMVK KRAS RASGRP1 IL4R NDUFAF3 MT-TL1 IGLL1 GJA1 CLN8 CLN6 POLG HSD17B10 DNAJC5 KRT1 ALB SMARCAL1 NFKB1 SCO1 ADAM17 NDUFA6 NEB RAC2 NDUFA9 DNMT3B RTEL1 BLM RAD51 LMNA ZCCHC8 CIITA PTCD3 HMGCL MTHFD1 RFXAP TRAF7 SURF1 PDHB TNFRSF13C MAGT1 VPS45 NDUFAF1 GBA MVK GNPTAB SPINK5 SLC25A3 FXN IBA57 GLRX5 MRPS14 RFXANK FOXRED1 CARMIL2 SPIB FANCD2 COMT KRT8 HADH TP53 TONSL MMEL1 MT-TF GPC4 XPC TMEM126B BLNK TWNK MT-TL2 SLC39A8 PNPT1 MCPH1 ETFDH IL6ST ELANE MT-CO3 NDUFS2 NDUFAF6 ZEB2 SLC46A1 DLAT TRIP13 COA3 COL1A1 PGM3 SLC5A6 ATP6AP2 TNFRSF11A TACO1 RAG1 TNFRSF1B PDP1 SUFU WAS ERCC2 DNA2 PIGK NUBPL PEPD TAZ CISD2 IGKC DGCR2 IL12RB1 DNM1L COX20 TARDBP GTF2H5 NDUFV2 SLC2A1 TPP1 NDUFS7 MAN2B1 NDUFAF8 BTK FAS COL7A1 NF2 CLN5 GATM TTN PTEN ALG12 SLC19A3 SLC25A26 CD27 KRT9 LAT ACAD8 AICDA XPA CD40LG SDHA CHCHD10 TERT TYK2 RNF113A CARD11 PIK3C2A CD40 TRNT1 IRF5 TNPO3 CD247 MMP1 TNFRSF13B MT-TW NDUFAF5 MRPL12 OCRL UBE2T NKX2-5 SCARB2 SH3KBP1 TRMU PLVAP MECP2 MAD2L2 KNSTRN CD79A ADA EHHADH TSFM SFTPC TCF4 GNE IKBKG FOXP3 NDUFA2 NFE2L2 FANCG AFG3L2 CLCA4 NDUFA11 CD3E UMPS CASP8 POMP CD19 DCTN4 COX4I1 DGCR6 FANCF CAVIN1 SFTPA2 TMEM70 TIMMDC1 EXTL3 COG6 CARD9 CARS2 PIK3R1 CCND1 NDUFS6 DSP MUC5B UFD1 WIPF1 SLX4 VPS33A RAB27A PANX1 TK2 IL21 NDUFA10 GTF2E2 CD55 ETFB DOCK8 RHAG ESS2 MS4A2 RREB1 ZMPSTE24 ESCO2 CD79B NHEJ1 TRMT5 CNBP BACH2 HIRA MRPS25 MYH7 BAP1 MT-TS2 CDAN1 FLNA KRT18 NLRC4 GPC3 TYMP PMM2 ERCC6 IVNS1ABP ATP6AP1 TIMM22 PLA2G7 PARN COX5A CASP10 CAMKMT NSMCE3 PDGFB RFX5 SON LBR CACNA1S NEUROG3 CD70 RAD51C GTPBP3 TCN2 FANCL PNP CTPS1 STAT5B ACAD9 GYG1 ASAH1 BOLA3 TNFSF15 CCBE1 HADHA PSMB9 MGME1 NDUFS3 CYBB NDUFS8 MT-TH NDUFB11 NDUFS1 KCTD7 NDUFB3 SLC22A5 SUCLG1 LIPT1 MT-TE JMJD1C CDCA7 MRTFA RNF168 GFER SMO ETFA MST1 IL12A ITCH KIF23 ADAMTS3 CYBA ATM DDB2 FANCA SEC23B PIGT EARS2 IL2RB LEP SHH SLC25A20 MYSM1 BRCA2 STX1A RRM2B MT-ND4L DGUOK NRAS BUB1B B2M PSMB4 SLC39A4 CDSN MIEF2 MTFMT AK2 MOGS HYOU1 AP3B1 COA8 SUCLA2 MT-TQ FBXL4 LRBA MRPS23 SH2D1A IL2RA IKZF1 TARS1 GPR35 MDM4 PIGM CLN3 UNG COX15 MFF NDUFB9 GNS ACTN2 SPG7 CLCN7 UNC13D NDUFAF4 MT-TN ISCU ARVCF RAI1 RNU4ATAC MT-CYB FAT4 ADA2 QRSL1 BCL10 LAMTOR2 MSN HGSNAT TIMM8A RFWD3 C9orf72 MT-ATP6 STING1 ERCC5 CA2 ATXN2 DLD LEPR ACADVL IFNGR1 PIK3CA MYH14 CSNK2A1 SAMD9L PLCG2 MT-CO2 RAD50 RBM8A ITK SLC25A4 HP_PSYCHOMOTOR_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_RETARDATION VLDLR HMGCL PPARG FANCE ERCC3 RNF113A ALG11 SLC25A15 HSD17B10 FGFR1 TMEM70 PIGV NFU1 CD96 ATPAF2 EMC1 ALDH18A1 DOCK6 MEIS2 BTD POMK VPS33A RNF125 MCCC2 C12orf65 MRPS22 AUH IARS1 MECP2 SERAC1 MPLKIP ALG6 SLC33A1 PTS GTF2E2 CAV1 SMPD1 MVK SYT14 GCH1 NEU1 ACY1 VRK1 PC ABAT DLAT TMEM67 HAX1 DDX11 TNFRSF11A SDHA BSCL2 ALG3 ERCC2 RPIA NALCN AGPAT2 TARS1 RBPJ LAMB2 GTF2H5 PMM2 MCCC1 QDPR COX7B CFAP43 TWNK ALG12 TBC1D24 KAT6B TINF2 AIFM1 ALDH5A1 PEX1 ATCAY BMP4 FOS SLC19A3 MRPL12 KYNU LAMB1 CAVIN1 EPG5 HESX1 PDHA1 PSAT1 RDH11 ALG1 CWC27 GK PCCA LRPPRC SIL1 PCCB GBA HP_UVEAL_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_ECTROPION CPAMD8 GRHL2 COL8A2 VSX1 OVOL2 ZEB1 HP_INTERICTAL_EEG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERICTAL_EEG_ABNORMALITY DCPS IQSEC1 JRK ARV1 PIGW TRAK1 ATXN10 GNB1 PGAP3 NTRK2 STRADA NEXMIF PHACTR1 COX4I1 LONP1 MBOAT7 GABRG2 KCNB1 SYNJ1 KCNQ2 KCNMA1 SLC9A6 DOCK7 SLC1A2 C12orf4 SPATA5 DAG1 AP2M1 CARS2 KCNA1 CLIP1 HCN1 CYFIP2 ZNHIT3 EPM2A HIBCH KANSL1 GABRB2 PIGQ PAFAH1B1 NDST1 PRPS1 ARHGEF9 NECAP1 SIK1 SAMD12 EFHC1 SLC25A10 CNPY3 GABRA1 MED23 UPB1 SETD1B ALG13 CACNB4 SCN2A SZT2 CRBN SCN8A SETBP1 TGFB1 COQ2 ABCC8 ATAD1 GABRD GRIN2B CILK1 FRRS1L STXBP1 ERMARD MECP2 SLC25A22 GFM2 TBCK GRIN2A GLYCTK PRSS12 ST3GAL3 GABRB3 ALG3 SYT2 ALG2 PTS NACC1 CLTCL1 PIGP CRADD PRICKLE1 PRRT2 GUF1 SCN1A SCN9A KCNQ3 PNKP CUX2 DNM1 PPP3CA CLCN2 TBC1D24 EEF1A2 KIF1A CDKL5 SPTAN1 PDSS2 CHD2 CLTC FMN2 GABRA2 NRXN1 ALG14 PLCB1 WASHC4 RNF13 SRPX2 PCDH19 STX1B SLC45A1 CACNA1A TIMM50 GABBR2 PIGA SCARB2 APC2 PSAT1 SNAP25 CDK19 SYNGAP1 WDR45 TRAPPC12 ATP6V1A TUBGCP2 PLAA SLC5A7 ATP1A2 PIGV FBXO31 GAD1 CNTNAP2 PIGL GRIK2 SARS1 METTL23 GRM7 CPLX1 SCN1B CHAT SCN3A ALG11 NEUROD2 KCNT2 KCNA2 AGRN AIMP2 FGF12 KDM5B ZC3H14 MAP1B YWHAG SLC18A3 KCTD7 NSUN2 PIGG VAMP1 IQSEC2 MED17 DMXL2 SLC25A1 PTPN23 PIGT SLC35A2 CC2D1A PGAP2 COL13A1 SMC1A CACNA1E HNMT GLUD1 TRIM8 EXOC8 MED25 SLC39A8 CACNA1H AARS1 KCNJ11 DALRD3 ARX B3GALNT2 UGDH GRIN2D SLC6A1 NHLRC1 MFF TUSC3 PGAP1 SLC1A4 PDHA1 PHGDH MAN1B1 TNIK RPL10 EZR GNAO1 EDC3 AP3B2 PIGY STARD7 CCDC88A CLCN4 LINS1 TUBB2A DCX LMAN2L SLC2A1 ST3GAL5 PNPO NUS1 AIMP1 SLC13A5 MAPK10 GABRB1 MED13L NDUFAF8 IARS2 IER3IP1 ADGRV1 WWOX HMGCL DOLK ASNS UBA5 TRAPPC9 ADGRG1 NF1 DPM2 CASK CACNA1B MDH1 HCFC1 RSRC1 CNKSR2 PIGO MYD88 MYO9A GABRA5 SYT1 ACTL6B TECR PARS2 PI4KA ADARB1 CSTB GNB5 ROGDI UBE3A ARFGEF2 PIGC DHDDS HP_PILL_ROLLING_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILL_ROLLING_TREMOR STXBP1 GABBR2 CDKL5 MECP2 NTNG1 HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY CSF2RA SFTPA1 MUC5B DPP9 PARN BMPR2 CSF2RB ATP11A TERC RTEL1 SFTPC TERT COL3A1 EIF2AK4 SFTPA2 DSP ABCA3 FAM13A STN1 ASAH1 HP_STARING_GAZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STARING_GAZE HTT MYO9A VAMP1 ATXN1 SNAP25 COL13A1 PNKD SYNJ1 SYT2 CHAT SLC25A1 PRRT2 SLC5A7 NGLY1 SLC18A3 AGRN SLC2A3 HP_STOOPED_POSTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOOPED_POSTURE SLC18A2 MECP2 TK2 ATP13A2 POLG COL12A1 HP_ABNORMAL_VISUAL_FIXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIXATION ASPA PDE6C CLP1 PDE6H ITPR1 RNF13 GBA PIGB ATF6 RPGR RANBP2 PTPN23 PET100 CNGA3 GNAT2 CNGB3 SLC39A8 ASAH1 HP_VISUAL_FIXATION_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIXATION_INSTABILITY ASPA PET100 CLP1 ITPR1 RNF13 SLC39A8 ASAH1 HP_DIFFUSE_ALVEOLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE BCOR PRKAR1A NPM1 FIP1L1 STAT3 NUMA1 ZBTB16 COL3A1 TBL1XR1 PML RARA IRF2BP2 NABP1 NLRC4 STAT5B HP_ABNORMAL_LARYNX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_MORPHOLOGY KCNMA1 WDR35 TBX3 PUF60 GLI3 FOXE1 TBX1 SCARF2 C2CD3 TONSL HSPG2 PRMT7 SF3B4 FLNB LAMB3 KIF7 PRRX1 EXTL3 APC MGP EIF4A3 COMT SLC26A2 UFD1 HYLS1 AMER1 AHDC1 PSAP PCNT KANSL1 FGFR2 RPL10 SEC24C MYMK FLNA RTL1 KRAS PKDCC MEG3 DLK1 PTH1R CREBBP SETBP1 SERPING1 RREB1 POR POLR3A HIRA MATR3 EP300 SEMA3E FERMT1 DYNC2I1 NIN FRAS1 TCTN3 ASAH1 SOX4 BRF1 LTBP4 ORC6 KAT6A LRP12 COL12A1 NEK1 GP1BB CHD7 SMAD4 ARVCF HOXD13 KAT6B EDN1 DYNC2H1 LRP4 MAP3K7 DYNC2I2 HDAC4 ATP6V1E1 LAMC2 RALGAPA1 AFF4 HAAO EFL1 FREM2 LMNA IFT80 SYT1 LAMA3 INTU ADARB1 SNIP1 SATB2 NFIX GMNN LBR SPECC1L LTBP3 SOX9 GRIP1 KIF22 JMJD1C MT-CYB MEIS2 GALC VPS13B WRN UBE3B HP_ABNORMAL_LARYNX_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_PHYSIOLOGY BRF1 VAPB SRPX2 SCN4A GABRG2 PPARGC1A CHMP2B NEK1 OPTN UNC13A SOD1 BTD TAF1 CHCHD10 UBQLN2 CASR GLT8D1 PON3 ATXN2 CFAP410 TREM2 TARDBP ERBB4 PRPH FIG4 PON1 EPHA4 NEFH TSPYL1 HNRNPA1 TAF15 DAO CCNF C9orf72 TBK1 DCTN1 GLE1 GRIN2A VCP MATR3 SQSTM1 FUS PLP1 PON2 PFN1 ANXA11 ANG UBE3B ASAH1 HP_ABNORMAL_BRONCHUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_MORPHOLOGY NME8 STAT1 CR2 RPGR DNAAF4 CXCR4 RSPH4A CD19 CD79A CCDC151 FCGR2A HLA-DRB1 ICOS CTLA4 MGP ZNF341 MUC5B TCF3 NCKAP1L BTNL2 PARN SLC26A2 RASGRP1 DNAAF1 CCDC114 ARHGEF1 IDS NEK10 CCDC65 CFAP298 PIK3CD SCNN1A RIPK1 PGM3 DNAH5 SLC29A3 TNFSF12 ATP11A CCDC103 CD81 TTC25 ZMYND10 SFTPA2 ABCA3 CCNO RSPH9 DNAAF6 DNAI1 POR CD79B LRRC6 BACH2 GAS2L2 HYDIN SFTPC FLNB DNAH11 STK36 IGHM TAP2 ORC6 RSPH1 GAS8 EGFR TERC CFTR DNAL1 TGFB1 IL17RA DNAH9 DNAI2 HRAS LRRC8A EHMT1 MS4A1 SCNN1G DNAH1 NFKB1 FGFR1 GMNN DPP9 SOX9 SCNN1B FOXJ1 OFD1 DNMT3B FGFR2 TERT DNAAF3 SPAG1 SFTPA1 RAC1 TNFRSF13C MAGT1 CFAP300 NBN ATM TTC12 DNAAF5 GNPTAB MYRF STN1 CARMIL2 CCDC40 DSP TAPBP BLNK LRRC56 IL6ST DRC1 B2M MCIDAS RTEL1 CFAP221 CD8A RSPH3 SPEF2 WDR1 ERF LRBA BLM DNAAF2 ARMC4 LTBP4 IRF8 TNFRSF13B RAC2 IL21R IRF9 PIK3R1 DNAJB13 NFKB2 IGLL1 IL2RG ORC4 FAM13A TAP1 TET2 RIN2 CCDC39 PRKCD POLA1 HP_ABNORMAL_BRONCHUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY GTF2H5 SDHD DAXX ACAN MPLKIP GTF2E2 IFNGR1 ERCC3 RNF113A ERCC2 TSPYL1 TARS1 ATRX HP_ABNORMAL_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRY ACTA1 CHRNE PNPO VAMP1 ASPA TPM3 SNRPN NRXN1 MYL2 CTNND2 ITGA7 OPA1 NIPBL TRIP4 SLC25A1 CHAT SELENON SNAP25 COL13A1 SIM1 LAMB2 COLQ MAP3K20 MYH7 SLC5A7 MAGEL2 MYO9A CNTNAP2 FKTN TSPYL1 ABAT TPM2 LAMA2 VPS13B RAPSN AGRN COQ9 HACD1 IGHMBP2 SPECC1L RYR1 LAMA3 SYT2 MECP2 CRYAB GFPT1 EXOSC9 CHRNA1 SEMA5A ATP5F1A SLC18A3 ASAH1 HP_HIGH_PITCHED_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PITCHED_CRY PNPO MECP2 CNTNAP2 ABAT NRXN1 ATP5F1A HP_INCREASED_LACTATE_DEHYDROGENASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LACTATE_DEHYDROGENASE_LEVEL TP53 CFH ACAD9 SLC7A7 PLEC LYST CFI TET2 CD46 SLC4A1 HBB RHAG MYC PIEZO1 MVK SPP1 MPL PLA2G6 FLI1 SLC25A13 STAT4 CHEK2 CALR RB1 IRAK1 PNPLA2 VPS13A RPS14 USB1 HELLPAR JAK2 KCNN4 GAA HP_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHARYNGITIS SRP54 NFKB2 ELANE XIAP SLC29A3 TCIRG1 SH2D1A PTPN22 GFI1 CXCR4 TNFRSF1A HP_PYODERMA_GANGRENOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYODERMA_GANGRENOSUM WDR1 SRP54 ELANE MEFV TCIRG1 PSTPIP1 GFI1 HP_ABNORMAL_CSF_METABOLITE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_METABOLITE_LEVEL TREX1 RNASEH2B NDUFA11 UNC93B1 MT-ND4 NDUFS4 NDUFA4 COX6B1 SURF1 NDUFA13 NDUFAF1 COX4I1 COX14 LONP1 HSD17B10 TIMMDC1 ECHS1 TXN2 NDUFV1 FOXRED1 SAMHD1 NDUFS6 NAXE DDC MT-ND1 MT-TF NDUFA10 C12orf65 TMEM126B SLC39A8 NDUFAF3 PNPT1 MDH2 NDUFS1 MRPS34 NDUFS3 NDUFS8 MT-CO3 PET100 MTFMT NDUFAF6 AIFM1 PNPO MT-ND2 PDHA1 MT-TQ SCO2 NDUFB10 TRAF3 SDHA TACO1 MT-CO1 NDUFA12 DARS2 GFM2 TLR3 TRMT10C NUBPL MT-TV RPIA SLC2A1 MT-TS2 NDUFB8 COX15 COX20 ADAR NDUFV2 NDUFB9 TICAM1 MT-ND5 MT-TW NDUFS7 SLC13A3 SLC25A19 PET117 NDUFAF4 HTRA2 RNASEH2A COQ8A PDHX GFM1 GCH1 NGLY1 SLC19A3 NDUFAF2 TBK1 RARS2 COX8A TH MT-ND6 MT-TN MPV17 NDUFS2 NDUFA1 MT-ND3 NDUFAF5 MT-TL1 MT-ATP6 NDUFAF8 MT-TH NDUFB11 NDUFB3 RMND1 NARS2 SUCLG1 LIPT1 RNASEH2C NDUFA6 LRPPRC HPDL NDUFA9 MECP2 MT-TK TRAPPC12 COA8 MT-CO2 NDUFA2 IFIH1 COX10 HP_ABNORMAL_CSF_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_PROTEIN_LEVEL UNC93B1 TICAM1 MT-ND5 GFAP SLC12A2 ARSA FTL GALC CACNA1A NGLY1 PRNP TBK1 TXN2 POLG BTNL2 PSAP MT-ND6 PEX7 RANBP2 MT-ND1 RRM2B BCAT2 MT-TF ATP1A2 SUMF1 MPZ ABHD5 PRF1 SLC12A6 EGR2 MT-TW OCLN MT-CO3 HLA-DRB1 HLA-DQB1 MT-TL1 SCN1A NOTCH2NLC MT-TQ MT-TH TTR PMP22 TRAF3 MT-ND4 CD59 MT-CO1 PRRT2 TLR3 PHYH MT-TS2 PRX MT-CO2 TYMP HP_ABNORMAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_MORPHOLOGY ZP2 GYG1 ACTN2 CACNA1S ATXN2 DSP C11orf95 RYR1 RTEL1 PARN TERT RELA RRM2B MDM4 POLG ZCCHC8 TYMP HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL RFXANK RFXAP RFX5 TF CIITA HP_ERYTHEMATOUS_PLAQUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMATOUS_PLAQUE TRPM4 CARD14 SDHD RASA1 HAVCR2 MEFV COL2A1 COL7A1 HP_ATRIAL_STANDSTILL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_STANDSTILL CASQ2 NPPA GJA5 RYR2 TRDN SCN5A HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY CLIP2 LTBP4 STK11 TBL2 SALL4 ITGB4 PIGN CDH11 ATP7A WNT4 MYOCD LAMB3 MYRF MKS1 LMNB1 FREM2 COL5A2 PLEC FOXF1 ELN ISL1 MLXIPL LAMC2 COL3A1 ACTG2 PLOD1 AVPR2 FBLN5 BAZ1B LIMK1 SMAD3 UPB1 KRAS GTF2IRD1 GTF2I LAMA3 COL1A1 COL1A2 RAC2 LMOD1 POR NKX2-1 RFC2 MYH11 AQP2 MYLK COL5A1 ITGA6 MBTPS2 GRIP1 TP63 FKBP14 PAH EFEMP2 MKKS HP_OVERWEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERWEIGHT APPL1 GCK ACADVL BLK CHD8 USP7 PDX1 TRIP4 AP4M1 KCNJ11 CEL AP4E1 AP4S1 IGSF1 NEUROD1 HNF4A HNF1A FOXP1 INS C8orf37 KLF11 THOC2 AP4B1 PAX4 ABCC8 HP_MORNING_GLORY_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_GLORY_ANOMALY TMEM237 PAX6 DNM1L PAX2 OPA1 HP_HYPOPLASTIC_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HIPPOCAMPUS OSTM1 VPS51 CAMTA1 CARS2 NDE1 GRIN1 VPS13A SLC35A2 HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION IL6R PIK3CD PRKCD TET2 LRBA BACH2 SP110 RASGRP1 CTPS1 HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION ZAP70 IL7R RFXAP CD3E PIK3CD MAGT1 IVNS1ABP CASP8 ATM FAS FOXP3 LCK CASP10 NSMCE3 RFX5 EXTL3 LEP RAG2 NCKAP1L RASGRP1 DCLRE1C WIPF1 IL2RG CTPS1 CIITA FOXN1 FASLG OTULIN MYC CD3D PNP CD247 AP3B1 EPG5 CD8A PGM3 ATP6AP2 WDR1 CD3G RAG1 PRKCD LEPR IL2RA KNSTRN BLM RFXANK ITK HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION CFH SLC4A1 GTF2H5 SPTA1 EPB42 PIEZO1 ANK1 HBB CFI MPLKIP GTF2E2 CD46 RHAG ERCC3 RNF113A ERCC2 HELLPAR KCNN4 SPTB TARS1 HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION CFH HELLPAR HBB CFI CD46 RHAG HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION SLC4A1 GTF2H5 SPTA1 EPB42 PIEZO1 ANK1 MPLKIP GTF2E2 ERCC3 RNF113A ERCC2 KCNN4 SPTB TARS1 HP_ECCENTRIC_VISUAL_FIXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECCENTRIC_VISUAL_FIXATION RPGR PDE6C CNGA3 PDE6H GNAT2 CNGB3 ATF6 HP_OPTIC_NERVE_MISROUTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_MISROUTING MC1R OCA2 TYRP1 SLC38A8 SLC45A2 HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE CCM2 CFI FBLN5 HLA-A ENPP1 FBLN1 CFHR1 PRPH2 MAPKAPK3 HMCN1 XYLT1 FBN2 XYLT2 KRIT1 CFHR3 ABCC6 APOE GNAQ AGXT PDCD10 HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY SCN5A TLL1 RARB MYPN TNNT2 KIF20A TNNI3 STRA6 MYL3 FLNC GYS1 SCN1B HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY TLL1 TBX20 GATA6 MYPN TNNT2 GATA4 KIF20A ACTC1 NKX2-5 CITED2 FLNC TNNI3 MYH6 NOTCH1 HP_FOCAL_EMOTIONAL_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_EMOTIONAL_SEIZURE GRIN2B CAMK2B KDM5B PPP3CA KCNQ5 CIC GRIN1 DYNC1H1 DEAF1 CAMK2A GLI3 TRPM3 PHGDH TAOK1 KIRREL3 EPB41L1 MYT1L CDH15 CSNK2B CUX1 NGLY1 BRSK2 CLTC CHAMP1 CACNG2 EEF1A2 KIF1A ASH1L DOCK8 SYNGAP1 TCF4 MBD5 SET PACS1 HIVEP2 ZMYND11 RAB11A MED12L STXBP1 HP_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSCESS CYBC1 TP53 DLX3 ELANE IRAK4 IL10RB ENG NCF2 NCF1 BRCA1 CYBA KRAS DDR2 BTK IL6R IL1RN FGF23 CARMIL2 CYBB IL17RA PALB2 PKHD1 MEFV PHEX IL10RA VANGL1 PSENEN PGM3 ACVRL1 PSTPIP1 CDKN2A MYD88 CTSC TGFB1 UBE2A RAC2 MNX1 PSEN1 WDR1 DMP1 ENPP1 PALLD ITGB2 BRCA2 NTRK1 SMAD4 BLM TTC7A NCF4 HP_ABNORMAL_URETER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_MORPHOLOGY CHRM3 VANGL1 WFS1 BCOR HNF1B ERCC6 ITGB4 TMEM216 SPINT2 LAMB3 PIGT BRCA1 LMNA SLC6A17 TMEM231 FANCD2 KCNA1 RPGRIP1 SMC3 PIGP FOXF1 SLX4 FIBP TRIM8 BRIP1 PIGQ PORCN GPC4 CEP55 FLNA SIK1 FANCB CC2D2A NPHP3 KIF14 FAM20C TCTN2 ACTG1 APC2 PLD1 FANCM SCN2A NAA10 LMOD1 RAB23 ZMPSTE24 ACTB PIEZO2 B9D2 PSMD12 HPSE2 PALB2 EVC DYNC2LI1 DMXL2 LONP1 TP63 B3GLCT ACTG2 ERCC4 GLI1 PNKP FANCF GPC3 B9D1 GNAO1 TMEM107 EPG5 PIGN FANCI GLI3 LHX1 ERCC8 XRCC2 SLC25A22 BRCA2 GATA6 RIPK4 WDPCP NSD1 PEX6 TMEM67 PLEC FANCC RAD51C MKS1 LAMC2 CASK CPT2 RPGRIP1L CSPP1 AXIN1 NDUFAF3 SETBP1 RNU4ATAC EDNRA ARX SETD2 PBX1 MBTPS2 FANCL SCN1B FANCE STXBP1 LAMA3 NEUROD2 UBE2T EVC2 RFWD3 COL18A1 FANCG TBX18 FANCA KCTD1 MYH11 MYLK MAD2L2 NADSYN1 SOX17 CEP290 ITGA6 RAD51 AQP2 CDKL5 AVPR2 FUZ MKKS HP_ABNORMAL_URETER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_PHYSIOLOGY KDM6A CLIP2 HSPA9 SALL4 PUF60 CDH11 HPSE2 HOXA13 HNF1B TBX1 ATRX PRMT7 MAP3K7 SHANK3 FANCI PIGN CEP152 UFD1 MFSD2A MLXIPL RAD21 KANSL1 ACTG2 COPB2 PAX6 HDAC8 SEC24C TNXB FLNA SIX1 GTF2IRD1 GTF2I DHCR7 ASXL1 LRIG2 FBLN5 RREB1 NRIP1 TRRAP RFC2 MYCN HIRA EP300 SEMA3E NFIA GATA3 BPTF SIX5 BRF1 TBL2 KNL1 MAP11 SASS6 EYA1 GP1BB ZMIZ1 SMC1A CCNQ SETD5 MNX1 SDHAF1 MYOD1 KMT2D CREBBP SDHA LAMC2 HAAO SETBP1 BICC1 LIMK1 SETD2 MCPH1 SALL1 UBE2A AFF4 TRPS1 COL18A1 RARB GRHPR CDKN1C SOX17 ROBO2 PAX2 RERE TP63 JMJD1C YY1 FUZ CHD4 DVL3 SMC3 EFEMP2 CEP135 CHRM3 VANGL1 SH2B1 WDR62 CEP63 NIPBL NCAPD3 LAMB3 NCAPG2 SDHD PIGA PPP3CA COMT PYCR2 PHC1 HNRNPK CDC45 ASPM BNC2 EHMT1 RECQL4 JAG1 DDX6 PIGQ KIF14 STIL IGF2 PIGO CDK6 APC2 PSMD12 METTL5 PIGL ZEB2 ANKLE2 CCBE1 PRTN3 NKX2-1 KMT2A POLR3A MBTPS2 DSTYK CENPJ CIT EXT1 RPL11 CHD7 ARVCF DACT1 HLA-DPA1 NSD1 CHRNA3 KMT2C ELN ISL1 RALGAPA1 CTLA4 GREB1L BAZ1B FGFR2 TAF13 PBX1 KCNQ1 KCNQ1OT1 SLC26A1 LAMA3 STRA6 HLA-DPB1 PTPN22 TBX18 CDK5RAP2 HNRNPU SDHB PIGT STAMBP EBF3 ARNT2 ATP7A SPOP HP_SINGLE_FIBER_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_FIBER_EMG_ABNORMALITY GFPT1 ALG14 DPAGT1 ALG2 GMPPB HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY VPS13C ANOS1 PPARG CDKN1A FSHR PROP1 FOXL2 NPHP1 GP1BA HESX1 GNRH1 UCHL1 LARS2 SMARCE1 AIP TRAF3IP1 LHX4 STAT5B FLI1 PROKR2 HFE NR5A1 CYP11B1 AGGF1 IL17RD F8 MAGEL2 PINK1 FEZF1 HDAC8 SNRPN ROBO1 SLC29A3 CDH23 PSMB8 FANCM PML WDR11 THOC6 ITGA8 MRPS22 BCOR MSTO1 SLC25A13 NDN PRKCD FGFR1 BLOC1S3 BSCL2 TBL1XR1 PHKA2 SMARCB1 BPTF DMRT3 PDE4D LHB VWF STAG3 RARA SMC1A GATA4 EIF2B2 MEN1 F10 HERC2 PHKG2 FGF8 PWAR1 CDON EIF2B3 ERCC8 FGA F5 AKT1 ITGB3 RASGRP1 CEP290 AIRE FGG PSMC3IP PTPN11 DCAF17 TRMT10A GLI2 PROK2 MCM8 ALMS1 KISS1R NPAP1 F11 BLM TAC3 SEMA3A SMC3 TRAF3IP2 POF1B SNORD116-1 WRN TRAF7 F7 SPRY4 NIN NBN BNC1 DCC TWNK PAPSS2 NABP1 TACR3 WIPF1 MKRN3 SNORD115-1 FIGLA ANAPC1 FMR1 F13A1 MCM3AP RTN2 PRKAR1A USP8 CDKN2B DHH PSMD12 FGB ZFPM2 XRCC2 DNAJC6 DHX37 SUFU ITGA2B FGF17 IQCB1 AR LEP NR0B1 CISD2 VAMP7 MYH9 GNRHR DNM1L NSMF SOHLH1 F2 SETD2 NR3C1 SOX9 INVS LMNA BMP15 NF2 SRA1 OCA2 HS6ST1 RCBTB1 NOBOX SRY IL17F HARS2 WDR19 HSD17B4 SEMA3E HLA-B BMP4 GALT FOS FOXA2 CYP17A1 COQ2 SLFN14 CCN2 MCFD2 PEX1 WNT4 ANTXR1 NDNF B4GALNT1 PRKN IGF2 ATP7B SDCCAG8 RAD21 NBEAL2 MAP3K1 TP63 NPM1 NUP107 EIF2B1 ZBTB16 DUSP6 FAS HFM1 STAT3 HPS4 ERCC6 ESR1 PLIN1 POU1F1 AXL WT1 GNAS GP9 CAV1 SMCHD1 H6PD SERPINE1 BAP1 POLR3H SPIDR SYNJ1 F13B GP1BB LIG4 LIPE PMM2 SYCE1 GPR161 CDKN1B HSD3B2 POLG GPR101 CASP10 GDF9 PDGFB CEP164 SETD5 SIM1 CYB5A CYP19A1 TTI2 PRKACG CHD7 CCR6 CAVIN1 SNCA RIN2 CLEC7A NPHP3 CCDC141 BMPR1B IKZF1 FASLG SMO PEX6 WNT7A CTDP1 BBS9 TERT ATM TBL1X PODXL LRRK2 CDKN2C WAS EIF2B4 FSHB STUB1 PCSK1 TKT AKT2 CIDEC IL17RC MSH5 HTRA2 EIF2B5 NIPBL GALK1 POR PRLR KMT2A BMP2 ZMPSTE24 AGPAT2 ERAL1 AARS2 HMGA2 ARMC5 IL17RA RNF216 PWRN1 SOX10 GFI1B NUMA1 MCM9 HJV NPHP4 LMAN1 HPS5 DIAPH2 GHR SOX3 HLA-DRB1 IRF5 PLAU FLRT3 FIP1L1 ESR2 PLAG1 GP6 CLPP CDKN1C LEPR PIK3CA OTX2 PARK7 IRF2BP2 TFR2 KISS1 WWOX HP_FEMALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_SEXUAL_DYSFUNCTION VPS13C ANOS1 SPRY4 HS6ST1 DCC IL17RA UCHL1 WDR11 PODXL DUSP6 CHD7 SEMA3A AIP SOX10 LRRK2 HESX1 FGF17 MEN1 FGF8 IL17F PROKR2 FGFR1 CDH23 TACR3 CYP11B1 IL17RD HLA-B FEZF1 HLA-DRB1 IRF5 PINK1 FLRT3 RTN2 NSMF CCDC141 KISS1R COQ2 CCN2 CCR6 IL17RC HTRA2 CAV1 DNAJC6 NDNF PROK2 SNCA POR PRKN CLEC7A GNRH1 TAC3 PARK7 SYNJ1 TRAF3IP2 KISS1 IKZF1 GNRHR FSHB HP_DYSPAREUNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPAREUNIA HLA-DRB1 IRF5 FLRT3 CCDC141 ANOS1 DUSP6 SPRY4 CCN2 DCC IL17RA CCR6 IL17RC CAV1 NDNF PROK2 CHD7 WDR11 SEMA3A AIP SOX10 HESX1 FGF17 CLEC7A MEN1 IL17F PROKR2 HS6ST1 FGFR1 CDH23 TACR3 FGF8 TRAF3IP2 KISS1R IL17RD HLA-B IKZF1 FEZF1 NSMF HP_ENCHONDROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCHONDROMA COL2A1 RNASEH2B ADAR IDH1 PTPN11 SAMHD1 RNASEH2C ACP5 POLR1C RNASEH2A TREX1 IDH2 IFIH1 TCOF1 POLR1D PTH1R HP_HIP_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_SUBLUXATION B3GALT6 EIF4A3 NFIX THOC2 IFIH1 EIF2AK3 NEPRO DHCR7 TRAPPC12 AFF4 PLOD1 DDR2 SLC35A2 HP_FLEXION_CONTRACTURE_OF_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_DIGIT ABL1 NOD2 HES7 NALCN MED12 PEX5 FBN2 KIAA1109 SUZ12 WNT5A BCOR TPM2 SKI ACTA1 PIEZO2 MAP3K20 TGFBR1 TRPS1 FKTN SLC29A3 PSMB8 MEG3 TBX15 RIC1 ATP6V1A SETBP1 ASXL1 DSE THOC6 FGFR2 FIBP LAMB3 HOXD13 ROR2 LAMA3 TBR1 AUTS2 ITGA7 SNX14 DDR2 ALX1 CLCF1 WDR11 NXN POR CDC6 MUSK MAP3K7 ERCC5 UPF3B CDH3 HINT1 ORC1 TP63 SATB2 COL12A1 WDR4 NUP88 MSL3 CDT1 SHH ADAMTSL2 ERCC1 SMS WDR73 TMEM70 DCHS1 FZD2 PROK2 COL6A1 DVL3 CHRNG DPH1 PAX3 TNNI2 SPRY4 MAF HSPG2 GLUL PRDM5 FAT4 TGDS COG5 FGFR3 TUBB3 GPKOW SMC1A FLNA ALG8 EED MESP2 SMG9 MYH3 GPC4 COL3A1 ALX3 MED25 FGFR1 RPL10 CTDP1 GJA1 DYM CRKL GDF5 KISS1R NLRP3 PIGL WIPI2 ZEB2 TNNT3 LMBR1 PQBP1 TWIST2 CTCF RAB23 PEX2 TP53RK MAPK1 KCNAB2 IGHMBP2 L1CAM POLR3A TAC3 FLVCR1 RIPPLY2 FGF17 TACR3 GNRHR DLL3 MYBPC1 MYL2 CDC42 LGI4 OSGEP SLC35A2 NSD1 FHL1 CAPN3 CHN1 TCTN3 TRPV4 BMP4 ZDHHC9 KAT6B LIFR GABRD SLC39A13 LAMC2 NT5C2 PEX1 COG1 OCRL H1-4 ANOS1 ORC4 CCN6 EMG1 FBXW11 CNTN1 MORC2 RERE DOK7 COL2A1 GORAB DUSP6 SH3PXD2B FGD1 MAFB SLC26A2 STAC3 XYLT1 KIF15 AMER1 SRCAP NUP133 ARX ITCH NSMF NUP188 MEGF8 COL6A3 MEGF10 DLK1 PROKR2 ATAD1 NAA10 ARID1B IKBKG BHLHA9 ZMPSTE24 TPRKB COL11A2 CCDC22 MAGEL2 PRG4 SMAD3 COL6A2 TGFBR2 NKAP EZH2 GPC3 DYRK1A ERCC2 BCR ANO5 COL11A1 ERCC6 SMAD4 PIGN ITGB4 MMP2 NOG IDUA SMOC1 CCBE1 SETD2 CDK13 MYOD1 MBTPS2 CHD7 SELENON FBN1 DVL1 PHGDH ZNF469 SMARCAD1 KDM5C KCNK9 TBX3 ECEL1 CRLF1 GMNN PEX6 ERGIC1 ADAMTS3 SPART SCARF2 PITX1 UBA1 CUL4B CHST3 NEK9 FGF8 IDS RTL1 BGN BRPF1 APC2 CANT1 DHODH HACD1 PRDM16 ERLIN2 MYO9A ORC6 ACTG2 SALL4 ADAT3 FERMT1 RAPSN PPP2R5D TPM3 MED13L HS6ST1 HUWE1 SLC35A3 KLHL7 LMNA C19orf12 GLI3 LAGE3 TOR1A SLC16A2 EFNB1 CDC45 SLC18A3 PHF6 COL17A1 ANTXR2 RTTN GNRH1 PORCN LFNG ZC4H2 NUP107 KISS1 DPM1 SVIL ECE1 HP_ABNORMALITY_OF_LATERAL_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LATERAL_VENTRICLE KDM1A KDM5B CCDC174 HCCS STAG2 NDUFB11 PTPN23 LONP1 NCAPG2 NFIX GLUL ZIC1 CLTC FANCI COG5 GRIN1 MBD5 HIVEP2 ZMYND11 MED25 ANKRD11 PPP3CA DYNC1H1 PEX10 RAC1 TRPM3 GRN ZNF462 ALG13 ERMARD COX7B TAOK1 ZEB2 CREBBP MYT1L PDHA1 TUBA8 MAP2K2 CSNK2B TNFRSF11A KIAA0586 CACNG2 VPS13A ASH1L ARSI EP300 VPS51 D2HGDH DCX EZH2 GRIN2B CAMK2B KCNQ5 DEAF1 CAMK2A PPP2R5D SNRPN KIRREL3 GFM2 NEK1 ODC1 BRSK2 MPDZ SLC35A2 KAT6B PSAT1 SON ACP5 EEF1A2 PUS3 SET CSPP1 TUBB2B CIC PIGG WARS2 EPB41L1 HS6ST2 CDH15 CUX1 DHX37 CHAMP1 GCDH KIF1A KIDINS220 DOCK8 SYNGAP1 TUBB3 PPP1R12A FBXW11 TCF4 ATP6AP2 RAB11A MED12L STXBP1 SEC31A HP_COLPOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLPOCEPHALY KAT6B FANCI KIAA0586 KDM1A PEX10 HCCS ZNF462 ERMARD COX7B STAG2 TUBA8 ARSI PPP1R12A NDUFB11 NCAPG2 CSPP1 MPDZ ANKRD11 SEC31A DHX37 HP_TIP_TOE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIP_TOE_GAIT DDHD2 SPG11 ERLIN1 MT-TE DYSF HARS1 KIF1C KCNA1 DEAF1 ADSS1 SGCG HP_STIFF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STIFF_SKIN ZMPSTE24 ADA2 SLC29A3 SMAD4 LMNA PSMB8 FBN1 HP_UNCOMBABLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCOMBABLE_HAIR TTC37 PADI3 TGM3 SKIV2L TCHH HP_AUTOIMMUNE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY TREX1 SLC7A7 STAT1 SRP54 TNFAIP3 IL12A PADI4 STAT4 ADA2 PLCG2 PTPN22 FCGR2A GFI1 CSF2RB FAS FOXP3 SPP1 PRKCD CASP10 IL2RA POU2AF1 CD244 SPIB ACP5 CTLA4 RASGRP1 COL4A5 MMEL1 MMP2 PTPN2 ADA LACC1 ANKRD55 FASLG CD247 PGM3 FADD ITCH COPA NLRP1 IRF5 TNPO3 TNFSF15 CSF2RA UBA1 IL10 CYBC1 FCGR2B STING1 IL2RB RIPK1 ELANE BACH2 IRAK1 NFKBIL1 IFNGR1 SLC22A4 DNASE1 CIITA IL12RB1 TCIRG1 COL4A6 HP_PRIMITIVE_NEUROECTODERMAL_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR MLH3 PALB2 KEAP1 PIK3CA PHOX2B RET ASCL1 SDHB MLH1 CDKN2A FLI1 PMS1 TGFBR2 PMS2 RUNX1 KRAS NSD1 TUBB GDNF CHEK2 SKI GPC4 NUTM1 NF1 FAN1 DICER1 GABRD SETD2 KIF1B BRD4 BDNF RPS20 EDN3 APC2 MYO1H RAF1 KCNAB2 PRDM16 MSH6 TP53 MDM2 SEMA4A BMPR1A MAPRE2 MSH2 YY1 BRAF PTPN11 RERE EPCAM GPC3 HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR KEAP1 CHEK2 CDKN2A TP53 DICER1 MDM2 HP_BURKITT_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BURKITT_LYMPHOMA RHOH FAS PRKCD XIAP CASP10 SH2D1A RASGRP1 FASLG MYC HP_ABNORMAL_DRINKING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DRINKING_BEHAVIOR SOX3 CTNS CISD2 HPSE2 FGFR1 CDC73 ITPR3 KCNJ10 KCNJ1 PROKR2 HSD11B2 HNF1A CLCNKB CACNA1D KCNJ5 HNF1B ARNT2 INSR NPHP1 NPHP4 DZIP1L NLRP3 AVPR2 SLC5A2 CYP11B1 PTPN22 OTX2 SLC12A3 AVP WFS1 TMEM67 LRIG2 CYP11B2 PKHD1 CLDN10 SOX2 CASR NKX2-1 AQP2 IL6 CLDN16 HESX1 NPHP3 HNF4A HP_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY ABL1 KDM1A CLIP2 PIGW NFIX UBR1 PUF60 RAC3 BUB1B POLA1 XYLT1 WNT5A DHPS ATRX IFT122 SF3B4 KIAA1109 SUZ12 FGFR3 DMD SHANK3 RB1 DLK1 BRCA1 GDI1 ZFPM2 TRMT10A KMT2A TBX1 CEP152 MED13L BPTF MLXIPL CREBBP TRPS1 LIG4 FBXW11 RBBP8 HDAC8 ARHGEF6 TBC1D24 GDF1 TBX15 SPART CLCF1 CENPJ GTF2I PAX1 PIK3R1 FANCM ACTL6A BCOR FGFR1 NPR2 SLC35A1 ALG3 SEMA3E OFD1 WWOX HOXD13 SOS2 LMNA B3GLCT FGF10 TELO2 SRCAP TBL2 DLX3 DOCK3 IGF1 DEAF1 SNX14 GDF5 GATA4 MAN1B1 ALX1 CEP55 XRCC2 SOS1 SPECC1L UPF3B SMC1A NXN CCNQ INPP5E ABCC8 CDC6 ACVR1 DLX5 GATA5 PPP1R15B TCF4 MAP3K7 HERC2 MYOD1 IQSEC2 MASP1 BRAF KCNK4 C12orf57 ORC1 PWAR1 TRIO LIMK1 TRAF7 XRCC4 EVC SALL1 CCDC8 NTNG1 TCF20 CDT1 IGF2 CKAP2L PLK4 NARS1 ODC1 MRAS CENPE FZD2 SLC26A2 NPAP1 RAD51 MBD5 DVL3 SMC3 KIF7 SNORD116-1 RAB11B SHH KIFBP NOG NIN FGFR2 IGF1R PCNT PAX3 MAP2K1 YWHAE GPC4 NCAPG2 RBM8A SIN3A PGAP2 PAK3 TMEM216 TGDS EIF4A3 KMT2E FANCD2 COG5 BMPR1B HMGA2 COG8 MKRN3 MTRR SNORD115-1 MEG3 MECP2 RTL1 KLF13 KPTN CD96 ALX3 MED25 SSR4 DLEC1 GJA1 DYM CRKL BUB3 RBM10 PKDCC CHRNA7 ERMARD COLEC10 PIGS WDR19 AGTR2 PIGL WIPI2 PQBP1 HOXA11 DDX11 RPL10 CTCF RAB23 MAPK1 CNKSR2 KCNAB2 L1CAM POLE DONSON KRAS PAFAH1B1 ERCC4 TFAP2B PIGH FLT4 MYCN EFNB1 AKT1 NONO RUNX2 NSUN2 AMMECR1 ZNF41 PIGY FGD1 CDC42 IHH USP7 OBSL1 SLC9A7 KCNJ2 RNF6 DVL1 EVC2 FRMPD4 FANCC KCNJ11 FLNB BMP2 PSMD12 TRPV4 NDN UBE3A MED12 RRAS CXorf56 TP63 PPP2R1A BMP4 KAT6B ELN PIK3C2A STAG1 GABRD SPOP RIT1 SPRTN TRIP13 CUL7 EMG1 UBE2T MACROH2A1 DCHS1 DPAGT1 ZC4H2 WDR35 MAD2L2 TCTN3 FTSJ1 KNSTRN HCFC1 WDFY3 RAD21 TRAPPC9 CSGALNACT1 PACS1 RERE SNRPN RAB18 POC1A FLNA CACNA1G CHSY1 PGAP3 CDH1 POMP HOXA13 REV3L MKS1 RRAS2 PHF21A SH3PXD2B NRAS RASA2 ATRIP MYT1L PIGN RNU4ATAC FLII KIF15 SLX4 AMER1 ATR TRMT1 FBXO11 MAPK8IP3 ACTL6B KAT8 NUP107 BUB1 RAI1 LEMD3 GJA5 FANCB PIEZO2 ITCH JAG1 SOX6 NUP188 ZNF462 MED13 INTU FAM149B1 GTF2IRD1 RPS6KA3 PITX1 VPS13B NAA10 ARID1B PTEN TANC2 ESCO2 CPLANE1 TRRAP CCDC22 MAGEL2 RFC2 PALB2 TBCK HEPHL1 TRIP12 PDE6D AFF2 MECOM DLG3 EZH2 GPC3 ORC4 BCR SOX4 SNRPB PIK3CD DDX6 A2ML1 FANCI KIAA0753 PUM1 TNNT3 COL11A1 RAF1 SMAD4 PACS2 SETD5 DSP KDM6B FOXP1 CNOT3 EXT2 USP9X PTPN11 RAD51C FAT4 SLC2A10 SKI MCTP2 BRAT1 PTH1R PIGV ANKRD11 NSMF CDK13 FANCE PHGDH KCNN3 TGFBR2 NKX2-5 ACSL4 SATB2 ROR2 MAF NEK1 KDM5C SMOC1 IRX5 TRAIP CBL STAG2 MAP1B ZMIZ1 YY1AP1 GMNN PHIP WNT7A CNOT2 NIPBL RSPRY1 ZNF81 TWIST1 CUL4B SHOX GATA6 LMBR1 H19 TBX5 SYP EBP BRIP1 MID2 SLC29A3 IFT43 ARID2 SVBP SOX11 NKX2-6 ZNF711 CDK10 CANT1 POR PRDM16 SOX5 TFAP2A CEP57 ORC6 CLCN4 WDR4 BLM FANCF ALG13 PRKACB PCGF2 PLXND1 RLIM RNF216 NUP37 HUWE1 EP300 PTCHD1 CHD7 TSPAN7 RAB39B BRCA2 DACT1 PWRN1 IFT52 RHOA G6PC3 PNPLA6 FLI1 HDAC4 USP27X ARX BHLHA9 TBX4 PIGO BCORL1 BAZ1B CDC45 LMX1B TASP1 DPF2 FANCL PLAG1 IL11RA LZTR1 RFWD3 FANCG FANCA IL1RAPL1 CDKN1C STAMBP CSNK2A1 PAH CITED2 TRAPPC4 HIC1 UBE3B HP_INCREASED_SERUM_TESTOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL GNAS FSHR POLR3A NR2F2 INSR WNT4 POR HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION FKTN FKRP DAG1 POMT2 GMPPB SYNE2 GFER MYOT CRPPA TMEM43 COL6A1 COL6A2 CAV3 POMT1 LAMA2 POMGNT1 LMNA COL6A3 FHL1 POMK SYNE1 DYSF LARGE1 EMD CRYAB HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN FKTN FKRP DAG1 POMT2 GMPPB CRPPA POMT1 POMGNT1 POMK LARGE1 HP_ABNORMALITY_OF_THE_ENDOMETRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ENDOMETRIUM SDHB BMPR1A GREM1 POLE MSH6 DMPK NTHL1 MSH3 MLH1 MLH3 USF3 MSH2 POLD1 THOC6 SLC6A17 PTEN KLLN SDHD PMS2 AKT1 SDHC SEC23B CDH1 PIK3CA HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION F2 MCFD2 LMAN1 F5 ITGB3 F13A1 F13B ITGA2B F8 HP_ORAL_CAVITY_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CAVITY_BLEEDING F2 BCOR F10 KIF23 PRKAR1A NPM1 FIP1L1 STAT3 NUMA1 ZBTB16 TBL1XR1 PML RARA F5 IRF2BP2 F13A1 F13B NABP1 F8 STAT5B HP_ABNORMAL_BOWEL_SOUNDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BOWEL_SOUNDS HLA-DRB1 IRF5 CCR6 SDHD SLC5A1 CAV1 DAXX ATRX CCN2 HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY PTRH2 NPHP3 JAK1 BTNL2 BMPER PMM2 HLA-DRB1 HP_TRUNCAL_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_TITUBATION THG1L FLVCR1 ACBD5 BRAT1 FAM126A HP_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLANGITIS CIITA RFXANK ABCB4 RFXAP ITCH WDR35 PKHD1 DCDC2 CLDN1 IL21R RFX5 DZIP1L CD40LG IL36RN BCS1L HP_CHOLANGIOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLANGIOCARCINOMA MST1 DZIP1L HFE TCF4 GPR35 PKHD1 HP_FLANK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLANK_PAIN JAK2 MPL CALR TET2 APRT TBX18 HP_ABNORMAL_VASCULAR_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_PHYSIOLOGY NOD2 RNASEH2B PPCS STAT1 CLIP2 JAK2 NFIX PROC NKX2-5 SPP1 SMAD9 CAV1 CCR6 SCNN1G TGFBR2 KIAA0319L SMAD4 PROS1 ALMS1 PRKG1 GBA HLA-DRB1 SFTPA2 NFU1 IRF5 HBB COL5A2 GNAQ TET2 SAMHD1 THPO MUC5B MMACHC ACP5 TCIRG1 EOGT FOXF1 ACTC1 ACTA2 MT-ND1 FGFR1 VPS33A MYH6 COL1A1 NOTCH1 AGGF1 STAT4 TNFSF11 KRT18 CTNNB1 ACVRL1 RBPJ TP53 IL23R PTPN22 IL10 PIEZO1 CACNA1D FAS GTF2IRD1 CD55 COL1A2 GTF2I CBS SMAD3 HFE ENG IKBKG PTEN MT-CO1 RFC2 GATA6 ELN MYH11 GUCY1A1 IL12B MT-TS2 TGFBR3 FBN1 MYLK ADAR TBL2 BRCC3 MT-ND5 COX7B LIFR SLC4A1 SLC37A4 COX5A EIF2AK4 COL4A1 APP PIGN LIPT1 CLCNKB ARHGAP31 SON FOXP1 COL3A1 MT-ND6 COG1 UBAC2 NAGS ABCD4 BMPR2 XYLT2 SERPINC1 KRAS TREX1 AGXT VAC14 LIMK1 MFAP5 SARS2 GATA4 MYH7 KIF20A CITED2 MTHFR MT-TL1 IL12A UBE2A MT-TH NR2F2 ALB NOTCH3 SMARCAL1 TGFB2 PLOD3 SPECC1L RNASEH2C IL12A-AS1 COL5A1 IRAK1 SNX10 C4A FSHR MED12 DLK1 TLL1 IFIH1 ATP5F1A GLA FLNA MLX DLL4 COX6B1 TNNT2 SCNN1B MAT2A GJA1 HSPG2 RASA1 NT5E SCNN1A CHST3 TBX20 MYPN MPL MYBPC3 SLC2A10 KCNK3 MGP CCR1 NF1 RNF125 MT-TF F5 MED25 SLC29A3 ENPP1 FKBP14 PIGA FIG4 ACTG1 MT-CO3 HTRA1 PLP1 MT-TQ CTCF MEG3 FOXE3 ACTB PRTN3 NKX2-1 HABP2 ANGPTL6 PIK3CA CRELD1 RTL1 ZMPSTE24 TGFB3 PAM16 COLQ GDF2 SFTPB AKT1 BANF1 CLCN7 ERAP1 TLR4 IDUA FLNC RNASEH2A XYLT1 TNNI3 ABCC6 SLC25A24 LIPA HLA-DPA1 RNF213 DOCK6 G6PC3 LAMB2 COX8A CCN2 ADA2 AFF4 THSD1 PLOD1 PDSS1 CTLA4 TERT LBR TBX4 CALR BAZ1B HLA-B MEFV KRT8 TGFBR1 LOX KLRC4 SLC12A3 MT-TW COQ2 BRAF HLA-DPB1 LAMA2 F2 SCARB2 SH2B3 MT-ND4 STING1 KCNJ5 BTNL2 KCNN4 NDUFB10 SFTPC F13A1 FGFR3 MT-CO2 PIK3C2A LMNA HP_NIGHT_SWEATS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NIGHT_SWEATS STAT6 NAB2 BCL2 SDHD UBA1 SLC25A13 HLA-DRB1 TH IFNGR1 BCL6 HP_PERIPHERAL_HYPERMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPERMYELINATION MTMR2 MPZ PMP22 NEFL SOX10 HP_ABNORMALITY_OF_PERIPHERAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIPHERAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY LYST MPZ SBF2 CTDP1 REEP1 PMP22 ABHD12 ARSA ERCC3 ERCC4 ERCC6 SUCLA2 GDAP1 BSCL2 WNK1 SETX SLC25A15 LTBP3 SUMF1 FXN VCP FBLN5 PDK3 PSAP KIF1A EPM2A YEATS2 NDRG1 LITAF PRPS1 GJB1 SOX10 RAI1 MARCHF6 PNPT1 SAMD12 FGD4 PLP1 LAMA2 RETREG1 NHLRC1 SBF1 RAB7A SORD SAMD9L HK1 CCT5 GJC2 IGHMBP2 NEFL CYP27A1 NEU1 FLVCR1 DEGS1 OPA1 STARD7 VPS13A MATR3 JPH1 DCAF8 GARS1 SACS NALCN SIGMAR1 FBXO38 IDUA KIF1B MFF HSD17B4 TYMP TBC1D24 EGR2 SPG21 PRX LMNA TRPV4 DNM2 GFM2 ATXN10 ARHGEF10 GALC ERCC8 MYH3 PLA2G6 FAM126A ATXN1 FBN1 SNAP29 PEX6 FIG4 PTRH2 RRM2B MPV17 LRSAM1 HSPB1 DIAPH3 MTMR2 SLC12A6 PNKP DYNC1H1 DHX16 TFG NGLY1 NOTCH2NLC CPLANE1 PLEKHG5 TIMM8A AIFM1 SPTLC1 NFASC EBP POLG MFN2 C12orf65 OTOF DHH NTRK1 HPDL SEMA6B CEP126 MYH14 SH3TC2 TPI1 HSPB8 SCN9A AARS1 MORC2 MED25 EDNRB HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY DCPS IQSEC1 JRK ARV1 PIGW TRAK1 PCK1 ATXN10 GNB1 FDXR STRADA NEXMIF DHPS RMRP LONP1 COMT GABRG2 KCNQ2 KCNMA1 SLC9A6 BCS1L SLC1A2 C12orf4 SPATA5 KCNA1 XPC DDB2 EOGT CYFIP2 ZNHIT3 EPM2A MT-ND1 HIBCH YEATS2 PEX6 NDRG1 PHACTR1 NOTCH1 TREM2 KANSL1 PIGQ LARGE1 SOX10 PRPS1 NTNG1 ARHGEF9 NECAP1 SIK1 CPLX1 SLC25A10 PEX2 CNPY3 OCRL FKTN UPB1 RBPJ TBC1D24 CACNB4 SCN8A NSD2 SETBP1 TGFB1 ABCC8 CHI3L1 GABRD FRRS1L ERMARD MECP2 SLC25A22 NTRK2 MT-CO1 NUS1 GRIN2A LSS ALG3 SYT2 EP300 ALG2 NACC1 CLTCL1 PIGP CRADD CEP85L KCNH1 CUX2 AP1S2 GABRA1 CLCN2 SPTAN1 PDSS2 CHD2 EPG5 CHMP2B SQSTM1 MT-ND5 GABRA2 PEX5 PLCB1 DEAF1 WASHC4 PCDH19 PEX26 PAX6 CTNNA2 SLC45A1 GFM2 GALC GRIN2B TIMM50 NGLY1 PEX13 TRAPPC11 SCARB2 PHF6 ARHGAP31 SNAP25 RUSC2 MT-ND6 CREBBP WDR45 SACS GPAA1 PLAA PEX19 FBXO31 ERCC8 GABRB3 CDKL5 WDR4 CYP27A1 CNTNAP2 GRIK2 SARS1 PEX1 GRM7 SCN1B MT-TL1 CHAT SCN3A CCDC47 ALG11 CLN8 KCNA2 PURA AGRN SNIP1 CACNA1A ERCC1 SLC44A1 FGF12 OTOF SMS LARS2 PEX3 WDR73 CARS2 SH3TC2 UBTF ZC3H14 YWHAG SLC18A3 PEX14 NSUN2 PIGG HMGCL POMT2 VAMP1 IQSEC2 GRIN1 MED17 TYROBP PTPN23 YWHAE PGAP2 SLC6A19 KCNQ3 PIGA VCP COL13A1 POMT1 KCNB1 LETM1 SMC1A CACNA1E GLUD1 PEX11B MADD PSAP APOL2 MT-TF ASL STXBP1 PRRT2 MED25 SLC39A8 LAMC3 AARS1 TLR3 UGDH GABRB2 GRIN2D FLCN MT-CO3 PGAP1 NTNG2 ZEB2 HECW2 PDHA1 PHGDH UBE3A MAN1B1 SCN2A RPL10 PEX10 TRAF3 GNAO1 TP53RK EDC3 GUF1 KCNAB2 MAP2K1 SZT2 OPA1 STARD7 DMXL2 PAFAH1B1 ANTXR1 AHSG TUBB2A ABCA5 DCX LMAN2L NOTCH2NLC SYNJ1 ST3GAL5 TICAM1 MAPK10 GABRB1 PIGY NDUFAF8 PPT1 ST3GAL3 ROGDI ADGRV1 SLC35A2 CPT1C GABBR2 ASNS UBA5 KCNJ11 OSGEP KMT2D ADGRG1 DPM2 MDH1 POMGNT1 HCFC1 TMEM106B ARX RSRC1 CNKSR2 NECTIN1 EFHC1 MT-TW AIMP1 GABRA5 ATP6V1A GMPPB SRPX2 IREB2 ACTL6B TECR ITGB6 ADARB1 MT-ND4 PARS2 ERCC4 KPTN PIGT GNB5 DNM1 SEMA6B PIGC B3GALNT2 MORC2 RERE SCN9A AFG3L2 UNC93B1 TET3 MFSD8 PGAP3 FOXG1 COX4I1 MBOAT7 DOCK7 KDM6A SH2B1 DAG1 AP2M1 CLIP1 FLII HCN1 AP3D1 ERCC6 MARCHF6 NDST1 NALCN RAI1 SAMD12 NUP133 MED23 PLP1 SYN2 SETD1B NUP188 ALG13 CRBN POGZ COQ2 ATAD1 CILK1 DAOA TPRKB TBCK NRAS GLYCTK PSEN1 PRSS12 NDUFA9 PTS AHDC1 SLC2A1 MT-TS2 PRICKLE1 SYNGAP1 AARS2 DRD3 SCN1A PNKP HNRNPU PPP3CA EEF1A2 KIF1A CLTC FMN2 NRXN1 RTN4R ALG14 FKRP DENND5A LIPT2 RNF13 STX1B UNC80 MYH3 GRN NLRP3 TBK1 APC2 PSAT1 CDK19 FOXP1 PRODH ALDH5A1 PTRH2 PRNP TRAPPC12 SKI TUBGCP2 SLC5A7 XPA ATP1A2 PIGV DIAPH3 ATXN1 GAD1 PIGL HTR2A METTL23 ALDH7A1 SNRPN PLPBP NEUROD2 KCNT2 MT-TH AIMP2 MAPT MAF ACOX1 RTTN VAMP2 ANKRD11 KDM5B ARG1 MTHFR MAP1B MAP2K2 KCTD7 EDNRB DLL4 ERCC3 PEX12 SLC25A1 NLGN3 CC2D1A NDP CUL4B KRAS HNMT TRIM8 BRAF STUB1 ATP10A EXOC8 CNTN2 EMC1 CACNA1H ERCC5 P4HTM DALRD3 SLC6A1 NHLRC1 MFF TUSC3 SLC1A4 SLC13A5 MT-TQ TNIK EZR C9orf72 AP3B2 PRDM16 GJC2 NEU1 CCDC88A PEX16 CLCN4 LINS1 PNPO APOL4 EIF2S3 SLC12A6 MED13L IARS2 ADRA2B CTNND2 ERCC2 NLGN4X CTBP1 IER3IP1 MCOLN1 FGFRL1 DOCK6 LAGE3 WWOX DOLK TRAPPC9 NF1 CASK CACNA1B SYT1 HRAS FARS2 PIGO MYD88 MTMR2 MYO9A TRIT1 TIMM8A EBP PI4KA CSTB OCA2 ARFGEF2 NUP107 MT-CO2 DPM1 DHDDS HIC1 HP_TETRAPLEGIA_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA_TETRAPARESIS TARDBP DPYD SQSTM1 ALS2 TBCD ADAR UCHL1 KCNT1 NDUFS3 ARX NEK1 GABRA3 PDHX TRAPPC2L GALC PNKP LMNB1 TBK1 NADK2 STAR BCAP31 CHCHD10 COL4A1 CARS2 AIFM1 TXNRD2 AGTPBP1 NAXE FUS TNFRSF11A FGFR1 MT-ATP6 VCP LRP4 PNP HINT1 KRAS SARDH C9orf72 PAFAH1B1 NUP62 SELENOI PRPS1 SLC19A3 GJA1 PRF1 SLC25A10 MRAP GAD1 ARSA TFG BSCL2 NHLRC2 NEXMIF ALDH18A1 KCNJ18 ATP1A2 NNT RANBP2 UGP2 GBE1 ATP1A3 LIMS2 CACNA1S ARFGEF2 MC2R PPOX HP_KINETIC_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KINETIC_TREMOR VLDLR GJC2 CCDC88C KIF1C ANO10 ATXN10 ABHD12 ARSA EPRS1 ERCC3 RNF113A ERCC6 QRICH1 PPP1R15B TMEM70 CACNA1A POLR3A ATCAY RFC1 VWA3B PIK3CA AKT1 CTDP1 MAOA GTF2E2 PEX10 TGM6 NKX2-1 TMEM106B PPP2R2B POLR3B AFG3L2 SLC6A17 ERCC2 SCP2 FMR1 PRICKLE1 TARS1 ABCB7 RARS1 NONO GTF2H5 PNPLA6 PIK3CD FXN ATP2B3 UCHL1 GSS NOTCH2NLC ERCC8 SNCA PTEN FAM126A SCARB2 PLA2G6 XPNPEP3 TBP FBXO7 ITPR1 PSAP UFC1 SACS TMEM63A KCNJ10 GJB1 OPHN1 MPLKIP TENM4 NFASC ELOVL4 SPTBN2 ATXN2 ITM2B SCYL1 CSTB KNSTRN SEMA6B CAMTA1 NOP56 FARS2 RNU12 MRE11 CWF19L1 HP_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TITUBATION LAMA1 KIF1C PLP1 FLVCR1 EIF2AK2 UCHL1 SIGMAR1 NKX6-2 IFRD1 MAG FAM126A THG1L GJC2 ACBD5 VPS13A KCNC3 HIBCH ALS2 SPG11 TMEM63A BRAT1 FUS HP_TREMOR_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR_BY_ANATOMICAL_SITE MYBPC1 ANO3 LAMA1 MARS1 EIF2AK2 UCHL1 PPP2R2B TSHR ADRA2B CTNND2 NOTCH2NLC DRD3 MFN2 SETX FGF14 SMN1 CIZ1 RAB3GAP2 SLC6A17 ERLIN2 YEATS2 GBA2 MPZ PDK3 CARS2 TUBB4A TAF1 SLC52A2 MARCHF6 HIBCH TOR1A ALS2 SPG11 TMEM63A PMP22 STUB1 ZFYVE26 PIK3R5 PLP1 ITPA SAMD12 CNTN2 DNMT1 ZFR FUS SLC12A6 TFG C19orf12 MTM1 ITPR1 TENM4 SIGMAR1 NKX6-2 IFRD1 PGAP1 CACNA1G SMN2 ABCB6 GJC2 AFG3L2 UBE3A VPS13A COL6A3 GCK SCP2 NOP56 MORC2 KIF1C PEX6 HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES KLHL41 DMPK VAPB TPM3 MYL2 ITGA7 ACTA1 PPARGC1A CHMP2B NGLY1 NEK1 OPTN UNC13A SOD1 DKK1 CHCHD10 UBQLN2 GLT8D1 PON3 ATXN2 CFAP410 MAP3K20 TREM2 TARDBP ERBB4 PRPH FIG4 MYPN PON1 EPHA4 NEFH SELENON NEB HNRNPA1 TPM2 KBTBD13 TAF15 DAO CCNF HACD1 C9orf72 TBK1 DES DCTN1 GLE1 VCP MATR3 SQSTM1 FUS GMPPB PON2 PFN1 ANXA11 COA8 ANG HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES VAPB PRPH FIG4 PON1 EPHA4 NEFH PPARGC1A CHMP2B HNRNPA1 NEK1 OPTN TAF15 DAO CCNF UNC13A SOD1 C9orf72 TBK1 DKK1 DCTN1 GLE1 CHCHD10 UBQLN2 VCP MATR3 SQSTM1 FUS GLT8D1 PON3 ATXN2 PON2 PFN1 ANXA11 CFAP410 COA8 ANG TREM2 TARDBP ERBB4 HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES AK9 MUSK CHRNA1 LRP4 VAPB KCNE3 CHRNE PPARGC1A CHRND CHMP2B SCN4A NEK1 OPTN UNC13A SOD1 NEB TPM2 CHCHD10 UBQLN2 GLT8D1 PON3 ATXN2 CFAP410 ACTA1 CHRNB1 LMOD3 TREM2 DOK7 TARDBP ERBB4 COL13A1 PRPH CACNA1S FIG4 PON1 EPHA4 NEFH CFL2 KLHL41 HNRNPA1 RNASEH1 TAF15 DAO CCNF AGRN C9orf72 TBK1 DES DCTN1 RAPSN GLE1 RRM2B VCP MATR3 SQSTM1 FUS PON2 PFN1 ANXA11 ANG HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES AK9 MUSK CHRNA1 LRP4 COL13A1 POMT2 TOE1 CHRNE CHRND LDB3 CFL2 SCN4A KLHL41 FLNC TPM3 ACADM AGRN ORAI1 MYPN NEB RAPSN KCNK9 STIM1 TPM2 POMT1 GMPPB HINT1 ACTA1 CHRNB1 CASQ1 LMOD3 LARGE1 FKRP DOK7 HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES LDB3 HINT1 ACTA1 CFL2 NEB KLHL41 LMOD3 TPM2 HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES ORAI1 MYPN NEB KCNK9 STIM1 TPM2 ACTA1 CFL2 KLHL41 CASQ1 FLNC TPM3 LMOD3 HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION COLQ GFPT1 LAMB2 ALG14 ALG2 DPAGT1 GMPPB HP_SLOW_PUPILLARY_LIGHT_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_PUPILLARY_LIGHT_RESPONSE PSAP COLQ MPZ CHRNA3 GALC TULP1 LAMB2 PRPS1 HP_COLLECTIONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLLECTIONISM C9orf72 SLC6A4 MAPT CHMP2B SQSTM1 TMEM106B TREM2 HTR2A PSEN1 VCP GRN HP_INAPPROPRIATE_CRYING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_CRYING SLC19A3 IQSEC2 SLC18A2 STXBP1 GABBR2 PSAT1 CDKL5 MECP2 PHGDH FOXG1 KIF15 PSAP GALC NTNG1 HP_VISUAL_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_AGNOSIA TMEM106B MAPT CHMP2B TREM2 ABCD1 PSEN1 GRN CEP85L C9orf72 HP_PERSEVERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSEVERATION TARDBP NPC2 PSEN1 CHMP2B SQSTM1 GRN VCP MAPT TMEM106B NONO USP7 C9orf72 TBK1 TREM2 CHCHD10 TACO1 FUS PRNP HP_HIGHLY_ELEVATED_CREATINE_KINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGHLY_ELEVATED_CREATINE_KINASE DPM3 CRPPA POPDC3 LAMA2 ANO5 PYGM HP_ABNORMALITY_OF_MUSCLE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MUSCLE_SIZE CLIP2 FKRP VCP TPO PPARGC1A WNT5A AGA CHRND COL6A1 ATRX SETX MAG SLC9A6 HNRNPA1 ABCC9 CCDC115 GYG1 BICD2 SCN4A IFT27 GLB1 CTNS KANSL1 IDS SOX10 ZBTB24 ANO5 SPART ARID1A NEB B4GALNT1 POMT1 HYMAI MYF6 BSCL2 NEFL NEFH VPS13A FIBP FUCA1 GARS1 SYT2 MT-ATP8 TMEM43 SPEG SURF1 B3GALNT2 PHKA2 AP1S2 FDX2 SFXN4 TBL2 FXN TTN SHOX GPC3 PRX ITGA7 CHRNA1 DNAJB2 ACTB COL2A1 GNE MRE11 REEP1 CTLA4 MUSK COL6A3 LAMP2 SALL4 PYCR2 EGR2 WDR81 YARS1 SDHA AKT1 CARS1 POMGNT1 SYNE1 GAA FITM2 HINT1 DOK7 ADSS1 NBN LIMK1 ATL1 HARS1 PNKP GRIA3 FIG4 CHAT GATA1 DYSF AIFM1 FTO CHRNE COG7 C12orf65 CCNF NARS2 DALRD3 PAX7 ATAD3A SGCA SIL1 DNMT3B CEP126 PON2 TRPV4 YY1 GFPT1 SLC18A3 CHRNG ACTN2 WRN NKX2-5 VAMP1 KIF1C TARDBP POMT2 AIP POMK SELENON GDAP1 PDE8B HSPG2 PUS1 MPZ HRAS DCTN1 HMGA2 C9orf72 MYBPC1 MYH7 PDE11A GMPPB SLC25A1 PEX10 PIGS SLC46A1 HK1 BBS9 KCNH1 EXOSC3 LARGE1 CYP7B1 IGHMBP2 SLC16A2 FLVCR1 ATP6V1B2 ZBTB20 LMNA BIN1 LTBP4 ALDH18A1 DNM1L GLE1 KLC2 EXOSC8 MYL2 LRP12 ACTA1 IFT172 ATXN3 DNA2 ACADM FHL1 DVL1 LAMB2 CAPN3 CHN1 HNRNPA2B1 SLC26A4 CAV3 SDHB ELN NPHP1 FOS SLC39A13 SPRTN MYPN DAG1 MTAP SGCD HNRNPK TPM2 TBCK ZC4H2 TRMU ATP8A2 COG8 TTC8 SQSTM1 NAGA TPI1 MORC2 COL7A1 KCNMA1 FKTN NDUFS4 PEX5 ERCC6 SMCHD1 SLC5A5 CAVIN1 MTMR14 TNNT1 TPM3 SEC23B TK2 RAI1 LEMD3 POLR2A FUS PLAGL1 TIA1 BBS1 AR TNXB ADK PIP5K1C CPT1C DUOX2 LAMA2 GTF2IRD1 DLK1 EPHA4 BMP1 PYGM DNM2 KLLN RFC2 PNPLA6 DARS2 RBM28 TRAF3IP2 TGFB1 JPH1 FRG1 KIF5A CRPPA NALCN SIGMAR1 FBXO38 LIPE C19orf12 PLEC USP8 ERLIN2 OPA1 MYOT COL6A2 PRPH POLG WNK1 FAM126A NEK1 SDHD DMD INSR AGTPBP1 DYNC1H1 VAPB PON3 PTRH2 FARS2 MPV17 SMN1 MSTN ERGIC1 KCNA1 IDUA HSPB1 EHMT1 HSPB3 FLNC STIM1 SMAD4 DAO KLHL9 CD59 SUCLG1 KCNK9 SGCB TBX3 INPP5K RYR1 HSPB8 ADSL COASY MFN2 SLC7A7 PMP22 BAG3 SYNE2 MAP3K20 PDK3 PLEKHG5 TBCD ALS2 TBX5 STUB1 HBB VLDLR SCN9A NDE1 MYMK RTL1 IGF2 TOE1 POU1F1 PNPT1 SGCG KBTBD13 PIEZO2 HACD1 VMA21 PFN1 RAPSN NEU1 COLQ PLP1 SDHC AGPAT2 KIF1B MME CDCA7 DMPK PLXND1 CCT5 MED13L CA8 CIZ1 ATM APTX ATXN2 CFAP410 AFF4 STAC3 CHP1 ZFYVE26 MTMR2 BAZ1B MYO9A GJB1 DNAJC19 TBK1 TFG PHF6 WARS2 PON1 CAPN1 KCNQ1 NGLY1 KCNQ1OT1 ERBB3 SDCCAG8 COA7 BVES KIF1A DHH GNAS POMGNT2 FKBP14 MT-TE DES PSAT1 AARS1 ANG RBM8A CD28 PPARG ABHD12 TRIP4 ERLIN1 SUCLA2 FBN2 TTPA KY CPT1A NDRG1 MCCC2 LITAF SLC33A1 DGUOK NDUFA12 COL12A1 PSMB8 MEG3 PFKM GTF2I SETBP1 PTEN USF3 IFRD1 AFG3L2 TDP1 MSTO1 AGRN LIMS2 DCAF8 GAN SACS TBCE PRUNE1 COQ2 SNX14 TSHR TRAPPC11 OPTN INPP5E ZFP57 SNAP25 CHRNB1 SDHAF1 PIGW UBQLN2 PHKG2 PRKAG2 C8orf37 SLC5A7 NUP88 CCDC47 SEPTIN9 CPLANE1 SNIP1 RNASEH1 CDKN1C SH3TC2 NEMF NOP56 SMARCA4 SBF2 KLHL41 GNPTAB LMNB2 IBA57 PEX7 COL13A1 POLR3A GBE1 COL4A1 GPC4 PRPS1 SPG11 TREM2 FLNA FGD4 RTN2 IL6ST TRIM32 AMPD2 BBIP1 VRK1 PIK3R2 KCNN3 COLEC11 TNFRSF1B UBE3A YARS2 SRY TRHR WASHC5 ABCA1 LRP4 MAN2B1 TYMP CHMP2B ERCC8 DPM3 ASAH1 KLHL40 ANTXR2 FOXE1 PAX8 TBC1D23 SLC25A21 ERBB4 SLC12A6 FAM111B ABCC8 DUX4 ADARB1 PNPLA2 MECP2 TCF4 PIK3C2A MED25 RRM2B RPS6KA3 WDPCP HNRNPDL LZTFL1 TSHB REV3L NKX2-1 ATP6V0A2 NIPA1 UNC13A SOD1 CHCHD10 GLT8D1 VPS33A PLIN1 RXYLT1 PIK3CA TG HEXB THRA B4GALT7 ZEB2 SLC52A3 FLRT1 BBS10 AMPD1 SPAST ARSI MGME1 NDUFA9 POPDC3 PEX1 IFT140 LMOD3 KDM5C PHGDH SPTBN4 MT-TL1 MAFB GPR101 ASCC1 ENTPD1 NDUFAF6 FOXG1 ATP7A SMARCB1 EMD DUOXA2 ATXN1 MTM1 MYOD1 BBS7 MYH3 LDB3 PGAP1 SCO2 INF2 SMN2 TAF15 ROR2 PLOD3 AGL SCYL1 CLCN1 AK9 PHKA1 MST1 SLC25A4 ARL6 RASA1 PQBP1 CNTNAP1 UBA1 FBLN5 PRKAR1A OGDH PYROXD1 IYD CUL4B RNF125 CEP290 MDH2 CAV1 RAB7A CIDEC MKKS SVBP BBS5 PRKACA TUBB2B FBXL4 TTC19 BBS4 MATR3 VPS13D ANXA11 TCAP GPR35 SLC52A2 BBS12 SLC25A19 HUWE1 KAT6A KCNJ11 GBA2 MKS1 MAP3K7 LRSAM1 LMX1B DHX16 POP1 RETREG1 SPTLC1 ACADSB STING1 PHYH DHTKD1 B4GAT1 ARSB PEX6 HELLS BBS2 MYH14 HP_HAND_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_MUSCLE_WEAKNESS AK9 MUSK TK2 REEP1 CHRNA1 LRP4 COL13A1 POLG CHRNE CHRND LDB3 BSCL2 SCN4A MFN2 FLNC MYH7 GARS1 SQSTM1 GNE NEB AGRN RAPSN LAMB2 PDK3 DCTN1 PNPLA2 BICD2 COLQ DYSF HARS1 HINT1 CHRNB1 MORC2 DOK7 TIA1 HP_PORTAL_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_VEIN_THROMBOSIS CTNNB1 MET KCNN4 SERPINC1 MPL NOTCH1 JAK2 PIGM TET2 SLC4A1 PIEZO1 HP_SPLANCHNIC_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLANCHNIC_VEIN_THROMBOSIS SPINK1 CFTR CASR PRSS1 CTNNB1 MET MPL JAK2 TET2 SLC4A1 PIEZO1 CPA1 CD55 KCNN4 SERPINC1 PRSS2 NOTCH1 PIGM CTRC HP_DEFECTIVE_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFECTIVE_T_CELL_PROLIFERATION MRTFA TGFB1 CD3E RASGRP1 CTPS1 WIPF1 HP_LARGE_INTESTINAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_INTESTINAL_POLYPOSIS SDHB BMPR1A GREM1 APC POLE KEAP1 AXIN2 DICER1 NTHL1 RNF43 USF3 FLCN CDKN2A POLD1 PMS2 PTEN SMAD4 KLLN SDHD TP53 ENG MDM2 MUTYH MSH3 AKT1 SDHC SEC23B CHEK2 PIK3CA HP_MICROPHALLUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPHALLUS RTTN IGF2 TRRAP SAMD9 THOC2 CDKN1C HMGA2 TOE1 PLAG1 CILK1 OPHN1 SIN3A GATA4 TACR3 HP_HYPERPLASTIC_CALLUS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPLASTIC_CALLUS_FORMATION KRT6A KRT16 KRT17 IFITM5 KRT6B HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL RPL15 RPS29 RPS19 ADA2 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 RPS15A RPL11 RPL18 RPL27 HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL RPL15 RPS29 RPS19 ADA2 RPS24 GATA1 RPL5 RPL35A PKLR RPS10 TSR2 RPL26 RPL35 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 VPS13A RPS15A ADA RPL11 PHKG2 PHKA2 RPL18 PRPS1 GALT RPL27 HP_SMALL_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_SCROTUM FBXW11 TANC2 KMT2E SVBP MYT1L DOCK3 DDX6 MED13 RLIM NTNG1 TCF20 WDFY3 PSMD12 TRMT1 BPTF ZMIZ1 ACTL6B TRAPPC4 FARSB BMP4 BCORL1 ACTL6A HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY RSPRY1 CFAP410 KIAA0586 COL10A1 RPL13 SRP54 SBDS TRPV4 CSPP1 DNAJC21 HP_UPPER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EXTREMITY_JOINT_DISLOCATION CHRNG SOX4 IFITM5 NIPBL SCARF2 AEBP1 HSPG2 ARFGEF2 DPF2 FLNB WNT5A ARID2 CHST3 FZD2 CD96 SHOX APC COL5A2 NXN SKI EXTL3 SLC26A2 ARID1B GPC6 FLNA XYLT1 ASXL1 EXT1 B3GALT6 KIF22 NOG SOX11 HDAC8 GDF5 ARF1 TBX15 B3GAT3 DYM PITX1 COL1A1 SMARCD1 RNU4ATAC BMP1 CANT1 KMT2A TMTC3 DONSON EXOC6B ORC6 EXT2 GSC NEDD4L ORC4 ATR ERMARD EP300 NGLY1 SMARCE1 SMC1A ROR2 SETD5 CDC6 LRP4 MAP3K7 SMARCA4 CREBBP DVL3 ARID1A B4GALT7 ORC1 CDC45 SLC39A13 COL27A1 FBN1 DVL1 CDT1 MACROH2A1 SMARCC2 COL1A2 ERCC1 PRKAR1A SMOC1 NOTCH2 COL5A1 MAP1B KLHL7 RAD21 SMARCB1 SMC3 GMNN HP_LOWER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EXTREMITY_JOINT_DISLOCATION KDM6A CLIP2 NODAL NFIX PUF60 GPHN FBLN1 COL5A2 ATP7A FBN2 COL6A1 TBX1 ARFGEF2 SF3B4 WNT5A BRCA1 BICD2 DISP1 TPM2 ACTA1 GLRB PIEZO2 GMPPB SIX3 MAP3K20 PPP2R5D B3GALT6 CPLX1 COL12A1 KIF22 OCRL HDAC8 SEC24C GLI3 SLC12A2 ATP6V1A GTF2I DYM NSD2 SLC35A3 DHCR7 NSDHL FANCM COL1A2 FBLN5 RNU4ATAC SYT2 EP300 CLTCL1 SMC1A ALDH18A1 SHH TELO2 TBL2 DHODH LMX1B ALG9 ITGA7 XRCC2 GP1BB GLRA1 NGLY1 DSTYK SELENON SNAP25 COL6A3 MAP3K7 PYCR2 CREBBP CDON VAC14 LIMK1 PTCH1 DLL1 MBTPS2 GAS1 CCDC8 CHAT CCDC47 KANSL1 UBE2A AGRN ERCC1 SOX9 COL5A1 FZD2 RAD51 SMC3 EFEMP2 ZIC2 SLC18A3 ADAMTS2 VAMP1 POMT2 TDGF1 CHRNG GNPTAB BPNT2 RBM8A TGIF1 EIF2AK3 COL13A1 EIF4A3 FANCD2 COMT IFIH1 LETM1 FUT8 POMT1 GDF5 WNT7A GPC4 CHRM3 LARGE1 GJA1 IL6ST SHROOM4 PKDCC CHST11 B3GAT3 COLEC11 EXOSC3 FGF8 EXOC6B LONP1 C12orf57 SMO ERCC4 STXBP1 SLC6A5 RYR1 AARS1 ATAD1 AKT1 RECQL4 HOXA11 MYL2 HACE1 AEBP1 PAFAH1B1 COL6A2 OSGEP OBSL1 KAT6B FLNA FHL1 FANCC KMT2D GLI2 NOTCH2 GORAB GEMIN4 ELN FGFR1 CUL7 UBE2T SLC10A7 ATP6V1E1 ATP6V0A2 MAD2L2 SMARCAL1 YWHAE RAD21 PYCR1 MYH8 FKRP LMNA SEC31A COLEC10 COL2A1 ZNF469 CD96 APC USP9X UFD1 PIGL XYLT1 SLX4 FANCB THRA ARF1 GTF2IRD1 HSPG2 DNAJC21 COL1A1 RREB1 PTEN RFC2 PALB2 TMTC3 HIRA FLNB GSC GPC3 ATR FANCI EYA1 TNNT3 MYH3 SETD5 LRP4 STAG2 RAD51C PTRH2 DVL3 SLC2A10 MCTP2 LMOD3 SLC5A7 SMOC1 FANCE CHST3 CFL2 DVL1 OFD1 MASP1 COL3A1 INPP5K MAP1B JMJD1C FOXH1 ECEL1 TBX15 SLC25A1 SIL1 IARS2 NEB BRIP1 PORCN MYH7 EBP FIG4 TPM3 SLC6A9 ZC4H2 NIPBL CANT1 HACD1 KMT2A ZMPSTE24 NEDD4L FANCF PRKACB TBCD ERMARD CTBP1 SNRPB ARVCF BRCA2 FGFRL1 FLI1 COX8A TOR1A SIX1 BAZ1B MYO9A FANCL HK1 KLHL41 RFWD3 FANCG FANCA TBX4 PLOD1 ARNT2 MKKS UBE3B HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY IL1RN KL SLCO2A1 GALNT3 COL1A1 HP_ANGULAR_CHEILITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGULAR_CHEILITIS SREBF1 KRT6A CAST KRT16 KRT17 KRT6B HP_WEAKNESS_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_FACIAL_MUSCULATURE ACTA1 NOD2 NUTM2B-AS1 DNM1L VCP LRP5 SOST COX6A2 PTDSS1 CHRND COL6A1 PEX19 SMARCE1 TRPV4 DMD REV3L TPM3 ALG2 GDI1 MYMK ITGB4 POLG BTNL2 PEX5 EYA1 ACTN2 GMPPB TPM2 AMER1 MYH7 CHRNE TK2 CHRNB1 TUBB6 CRYAB COL13A1 ARHGEF6 MYL1 PEX1 SLC5A7 TRIM32 RPS6KA3 MEGF10 CLCF1 AGRN SLC52A3 NEB GSN POMT1 PEX10 MYPN DES NEFL TGFB1 SMCHD1 MGME1 SYT2 BAP1 SEMA3E GAN SPEG ANKH PEX14 DLG3 CHRNA1 MSTO1 SMARCB1 RYR1 CRPPA LMOD3 SPTBN4 SIX5 GFPT1 PLEC POLG2 ANO5 SELENON COL6A2 SCN4A UPF3B CACNA1A ADA2 PDGFB GNE CHD7 SNAP25 COL6A3 USP9X PEX13 PEX26 SALL4 IQSEC2 MT-TN SYNE1 LRP4 PTRH2 DNM2 GLE1 ATP1A2 CHCHD10 DOK7 ADSS1 SHMT2 SLC25A42 MTM1 AKT1 IRF2BPL HLA-DRB1 CLCN7 CHAT FKRP C12orf65 CFL2 MED12 SCO2 CAPN3 ACSL4 RNASEH1 NARS2 ABCA1 YME1L1 DNAJB6 KLHL41 SH3TC2 NF2 DMPK TNFSF11 SLC18A3 PEX11B SMO SIX1 TTN AK9 MUSK COL12A1 VAMP1 POMT2 PEX12 TRAF7 TERT SLC25A1 CRLF1 SURF1 CNTNAP1 BAG3 ZNF81 CHKB PAK3 UBA1 COL4A1 TUBB3 SLC25A4 DCTN1 RRM2B PYROXD1 SYP MECP2 ACADS LARGE1 TWNK MID2 PEX6 MTMR14 AGTR2 ZNF711 SCN1A SQSTM1 HOXB1 TREX1 SUCLA2 ZC4H2 KBTBD13 CNKSR2 GJC2 SUFU RAPSN PEX16 ALG14 TFAP2A BIN1 COLQ KY CLCN4 MPZ ALG13 FRG1 GJA1 SLC52A2 SNX10 PLXND1 DPAGT1 ZNF41 LRP12 PTCHD1 TCIRG1 ASAH1 TSPAN7 RAB39B DNA2 KLHL40 SLC39A14 PEX3 SLC9A7 LAMB2 FRMPD4 ADGRG1 USP27X ARX FKTN CXorf56 OPA1 SLC25A21 BMS1 PABPN1 MTMR2 MYO9A SLC12A6 PUF60 SRPX2 SGCD HK1 FLNC LAMA2 PI4KA IL1RAPL1 PRRT2 GIPC1 FTSJ1 PIK3CA HCFC1 MT-TE DLL4 EBF3 PEX2 ADCY6 HP_RETINAL_THINNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_THINNING SAG GNAT1 CABP4 GRM6 GRK1 NYX CACNA2D4 CACNA1F RHO SLC24A1 PROM1 GNB3 PRPH2 PDE6B CNGB3 POMGNT1 RIMS2 HLA-A ABCA4 ELOVL4 COL2A1 KIF3B GPR179 C8orf37 ALDH3A2 TRPM1 LAMA1 LRIT3 HP_ABNORMAL_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_LEVEL TEX15 BNC1 TRAF7 CYP11A1 TERT NUP107 FSHR POLA1 FOXL2 PSMC3IP GNRH1 NR5A1 NANOS1 LARS2 SMARCE1 ZMYND15 CYP17A1 HFM1 DHX37 FIGLA FMR1 ERCC6 WT1 MAGEL2 NDN SNRPN CDH23 FANCM ZFPM2 SRY DMXL2 TAF4B XRCC2 CNBP SUFU OCA2 BAP1 POLR3H NR0B1 SPIDR ANOS1 SMARCB1 TEX11 VAMP7 DMRT3 ESR1 PNPLA6 LHB HSD3B2 FAM111A SOX9 SYCP3 STAG3 NF2 SOHLH1 MEIOB GDF9 PDGFB GATA4 BMP15 LHCGR AR CBX2 NSMCE2 CYB5A HSD17B4 PPP2R3C ESR2 AKT1 KISS1R CFTR TDRD9 MRPS22 SYCE1 MCM8 DHH TEX14 KLHL10 PIK3CA MAP3K1 WWOX SMO HP_DECREASED_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_GONADOTROPIN_LEVEL PNPLA6 LHB MAGEL2 NDN TRAF7 TERT AKT1 SNRPN GNRH1 NF2 DMXL2 OCA2 SMARCE1 PDGFB BAP1 SUFU PIK3CA ANOS1 SMARCB1 SMO HP_DECREASED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL LHB BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 DMXL2 SMARCE1 ANOS1 SMARCB1 PDGFB SMO HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL WT1 TRAF7 CYP11A1 TERT HSD3B2 FAM111A BNC1 SOX9 NR5A1 NF2 SMARCE1 GDF9 PDGFB SRY GATA4 CYP17A1 AR CBX2 NSMCE2 DHX37 FIGLA CYB5A ERCC6 PPP2R3C ESR2 AKT1 FANCM KISS1R ZFPM2 DMXL2 XRCC2 MCM8 BAP1 CNBP SUFU PIK3CA NR0B1 MAP3K1 ANOS1 SMARCB1 VAMP7 DMRT3 WWOX SMO HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL WT1 LHB TRAF7 CYP11A1 DMPK NDNF TERT SPRY4 POLA1 SOX9 HS6ST1 GNRH1 NR5A1 NF2 SMARCE1 WDR11 PDGFB ALMS1 DUSP6 GATA4 LEP CYP17A1 FGF8 POLR3A DHX37 INSR CYB5A CYP11B1 FGFR1 GNAS NR3C1 NSMF AKT1 KISS1R SLC39A4 ZFPM2 CHD7 SRY DMXL2 B4GALNT1 ANOS1 DCAF17 HFE PROKR2 POR BAP1 DHH SUFU TAC3 RBM28 LEPR FGF17 PIK3CA FSHR NFKB2 PROK2 NR0B1 TP53 MAP3K1 SMARCB1 TACR3 VAMP7 KISS1 NR2F2 DMRT3 GNRHR WWOX WNT4 SMO FSHB HP_INCREASED_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANDROGEN_LEVEL GNAS FSHR TP53 POLR3A CYP11B1 NR2F2 ALMS1 INSR WNT4 POR HP_DECREASED_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ANDROGEN_LEVEL WT1 LHB TRAF7 CYP11A1 DMPK NDNF TERT SPRY4 POLA1 SOX9 HS6ST1 GNRH1 NR5A1 NF2 SMARCE1 WDR11 PDGFB DUSP6 GATA4 LEP CYP17A1 FGF8 DHX37 CYB5A FGFR1 NSMF AKT1 KISS1R SLC39A4 ZFPM2 CHD7 SRY DMXL2 B4GALNT1 ANOS1 DCAF17 HFE PROKR2 POR BAP1 DHH SUFU TAC3 RBM28 LEPR FGF17 PIK3CA NFKB2 PROK2 NR0B1 MAP3K1 SMARCB1 TACR3 VAMP7 KISS1 DMRT3 GNRHR WWOX SMO FSHB HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL SMPD1 SOX3 RBM28 IGFALS AIP IGF1R GHR GHRHR NFKB2 GHSR MEN1 DCAF17 MCTP2 ADAT3 STAT5B GALT HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 SMPD1 SOX3 RBM28 IGFALS GHR GHRHR NFKB2 GHSR DCAF17 MCTP2 ADAT3 STAT5B GALT HP_ABNORMAL_SERUM_INTERFERON_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERFERON_LEVEL RNASEH2B STAT1 ADAR RNASEH2A TREX1 SAMHD1 RNASEH2C PSMB8 SP110 IFIH1 POLA1 HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS IL6R PIK3CD PRKCD TET2 LRBA HP_SPOKEN_WORD_RECOGNITION_DEFICIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOKEN_WORD_RECOGNITION_DEFICIT VCP GRN MAPT PSEN1 TMEM106B HSD17B10 TREM2 C9orf72 CHMP2B HP_CHOROID_PLEXUS_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROID_PLEXUS_CARCINOMA SMARCB1 CHEK2 CDKN2A TP53 MDM2 HP_ABNORMAL_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_AGGREGATION ITGB3 GP1BA P2RY12 PLAU GUCY1A1 GP1BB VWF IKZF5 ITGA2B GP9 THPO AP3B1 SH2B3 RUNX1 KCNJ1 RASGRP2 FLI1 DTNBP1 BLOC1S3 EPHB2 TBXA2R GATA1 HPS6 PLA2G4A NBEAL2 CALR ABCG8 CISD2 HP_GLUCAGONOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCAGONOMA MEN1 CDKN2C CDKN1B CDKN1A CDKN2B GCGR HP_PANCREATIC_ENDOCRINE_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ENDOCRINE_TUMOR CDKN1B MEN1 MAFA CDKN2C CDKN1A VHL TSC1 CDKN2B TSC2 GCGR HP_PRIMARY_PERITONEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_PERITONEAL_CARCINOMA RAD51D BARD1 TP53 PALB2 PTEN NBN BRCA1 BRIP1 RAD51 BRCA2 MRE11 RAD51C CHEK2 RAD50 HP_NEUROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROMA CCM2 NF1 KRIT1 NF2 PDCD10 HP_PILOMATRIXOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILOMATRIXOMA EP300 APC KEAP1 CTNNB1 CREBBP DICER1 HP_PULMONARY_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CARCINOID_TUMOR CDKN1B MEN1 SDHD CDKN2C DAXX CDKN1A ATRX CDKN2B LMNA HP_SOFT_TISSUE_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_SARCOMA BMPR1A FLNA TRAF7 APC TERT MLH1 CDKN1A NBN BUB1B PDGFRL VEGFC AXIN2 RSPRY1 PRKAR1A PAX7 MEN1 MAP2K1 SMARCE1 CDKN2A KCNH1 REST ELMO2 CDKN1B CDC73 AKT1 FAS TP53 SPRED1 CDKN2C CTNNB1 FLT4 MSH2 PDGFRB TSC2 SSX1 NF1 SEC23B PLCD1 PTPRJ PIK3CA BUB1 SDHB GREM1 PTEN IFNG BUB3 MSH6 CDKN2B FLCN DLC1 TSC1 USF3 ABCA5 COL1A1 PRLR ANTXR2 KCNN3 KLLN PRKCD FH SUFU NRAS KRT17 CEP57 BAP1 PTCH1 DICER1 SDHC NOTCH3 SMARCB1 ASPSCR1 COL4A6 NF2 MCC KEAP1 MC1R AURKA CCND1 SOS1 CASP10 SSX2 PDGFB DCC PAX3 SLC22A18 SDHD PTPN11 FOXC2 ATP6V1B2 BAX COL4A5 CHEK2 BRAF HRAS MLH3 DHCR24 KIT FGFR3 RASGRP1 TRIP13 SRC GJC2 MTAP KRAS FOXO1 PLA2G2A RAD54B MDM2 TLR2 PTPN12 EP300 PTCH2 FAM20C FASLG SMO HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY SAG RHO RDH12 SLC7A14 CACNA2D4 PDE6H MCOLN1 WDPCP ELOVL4 GUCY2D LZTFL1 SUCLA2 RLBP1 SNRNP200 TOPORS CEP290 EYS GNB3 PRPS1 TTPA ACOX1 SEMA4A RP2 RPGR PRPF4 IDH3A TCIRG1 CNGB1 PDE6B IFT27 USP45 LCA5 MT-ATP6 WWOX NDRG1 ZNHIT3 CLRN1 POGZ TNFSF11 BBS1 PRPH2 PIEZO2 IFT140 BBS2 NRL MYO7A HADHA GRK1 KCNJ13 TYR ZNF513 CACNA1F USH1C BBS10 SCAPER COQ2 ATXN3 C8orf37 PDE6A ABCA4 RPE65 KIF3B WHRN KIZ RP1L1 BEST1 ALG3 USH2A ROM1 HARS1 GNAT2 CNGA3 SSBP1 PEX1 CDH23 PDE6C ARL2BP RP1 KLHL7 AIPL1 PROM1 PDSS2 PGAP1 TIMP3 AHI1 VSX1 ERCC6 ADAR RPGRIP1 LRAT PCARE POMGNT1 ARSA CRX ARHGEF2 GALC ADGRV1 CNGB3 GUCA1A MFRP OPN1SW TULP1 GNB5 RD3 CHM TRPM1 GDF6 NUP62 ERCC8 RAB18 RAB3GAP2 ATXN1 GRM6 BBS7 PSAP IMPG2 CIB2 RP9 NOTCH3 IMPDH1 FSCN2 SNX10 TKFC AHR PLA2G6 TTC8 MAK PDE6G CRB1 ARL6 USH1G TBC1D20 IQCB1 COX6B1 SPATA7 RDH5 KIAA1549 SLC24A1 CLCC1 NEK2 PDE6D FXN CERKL PRPF3 PRCD OPA1 EMC1 CEP104 AGK IFT88 PDZD7 RS1 AAAS IDS POLG PCYT1A PCDH15 MT-TS2 RGR DHX38 IFT172 CEP78 TRIM32 NYX BBIP1 MKKS BBS5 BBS9 LARGE1 CNGA1 NR2E3 GJC2 GPR179 BBS4 FLVCR1 CAPN5 ESPN CLN3 MFF HSD17B4 BBS12 CLCN7 REEP6 CABP4 RAB3GAP1 TPP1 RNF216 ARL3 IDH3B ATF6 PPT1 GUCA1B NMNAT1 AGBL5 TUB RDH11 OPN1MW ARHGEF18 MKS1 PNPLA6 OPN1LW PRPF31 FAM161A CDHR1 PRPF6 MERTK GNAT1 NPHP1 ZNF408 HGSNAT SDCCAG8 TIMM8A PRPF8 LAMA2 SLC25A4 MFN2 RBP3 CA4 OFD1 PEX12 ARSG DHDDS LRIT3 HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM SAG AIPL1 PROM1 RHO CABP4 CACNA2D4 ADAR PDE6H MCOLN1 CLRN1 RP9 IDH3B GUCY2D ATF6 RPGR PPT1 RP1 RDH5 SLC24A1 RPGRIP1 PDE6B GNB3 ACOX1 CERKL MFRP USP45 CACNA1F OPN1SW NR2E3 IDS MT-ATP6 TRPM1 NUP62 CNGB3 PRPH2 ABCA4 GNAT1 PDE6C GRK1 RGR GRM6 NYX ZNF513 RPE65 RLBP1 GNAT2 RS1 LARGE1 IMPDH1 KIF3B GPR179 C8orf37 BEST1 ALG3 TTC8 CNGA3 LRAT LRIT3 POMGNT1 HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM SAG ABCA4 GNAT1 GPR179 GRK1 CABP4 GRM6 CACNA2D4 C8orf37 NYX CACNA1F RHO TRPM1 SLC24A1 GNB3 PDE6B LRIT3 RS1 HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE SAG GNAT1 GPR179 CABP4 GRM6 C8orf37 GRK1 NYX CACNA2D4 CACNA1F RHO TRPM1 SLC24A1 GNB3 PDE6B LRIT3 HP_EXUDATIVE_VITREORETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXUDATIVE_VITREORETINOPATHY FZD4 LRP5 TSPAN12 NDP CTNNB1 ZNF408 VCAN HP_CHORIOCAPILLARIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIOCAPILLARIS_ATROPHY PRPH2 GUCA1A ACVRL1 GUCY2D CRB1 HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION HMCN1 RAB28 CFHR3 APOE CTNNA1 CFHR1 SLC38A8 HP_MACULAR_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_THICKENING PRPH2 ARL3 KIAA1549 APC RHO NOD2 RP9 NR2E3 IDH3A RDH5 RLBP1 PRPF31 TREX1 DHDDS VHL POMGNT1 MFRP HLA-A RP1L1 ARHGEF18 NRL TRNT1 PDE6G PRPF8 REEP6 NF2 HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA CNGB3 IMPG2 ABCA4 ELOVL4 IMPG1 PRPH2 CFHR1 HMCN1 CFHR3 PROM1 APOE BEST1 HP_RETINOSCHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOSCHISIS ACTB MFRP RS1 ACTG1 NR2E3 HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA LRP5 RHO RIMS1 NDP FAM111A GUCY2D ELOVL4 HMCN1 XYLT1 RDH5 BEST1 ALMS1 TMEM98 CNGB3 FBLN5 MFRP TINF2 IMPG1 CTC1 PRPH2 IMPG2 XYLT2 CFHR3 TREX1 CTNNA1 ZFYVE26 AGXT KCNJ13 GUCA1A CFHR1 FZD4 RLBP1 NEU1 PROM1 APOE TSPAN12 ESPN RB1 ABCC6 CFI ABCA4 CFH IFT172 HP_MODERATELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATELY_REDUCED_VISUAL_ACUITY LRP5 DNM1L RAC1 IMPG1 OPA1 IMPG2 HP_HETERONYMOUS_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETERONYMOUS_HEMIANOPIA MEN1 BAP1 TRAF7 CTNNB1 TERT SUFU AKT1 CDH23 PIK3CA NF2 SMARCE1 BRAF SMARCB1 PDGFB SMO AIP HP_VISUAL_ACUITY_TEST_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_ACUITY_TEST_ABNORMALITY LRP5 APC BAP1 TRAF7 TERT SUFU AKT1 PAX6 PIK3CA NF2 TUBB3 POU3F4 SMARCE1 SMARCB1 PDGFB SMO HP_COLOR_VISION_TEST_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOR_VISION_TEST_ABNORMALITY OPN1SW RPGR PDE6C CNGA3 PDE6H AFG3L2 GNAT2 FA2H CNGB3 ATF6 HP_ABNORMAL_VISUAL_FIELD_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIELD_TEST BAP1 TRAF7 CTNNB1 TERT SUFU AKT1 CDH23 PIK3CA NF2 SMARCE1 BRAF MT-ATP6 SMARCB1 PDGFB SMO HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING KIAA1549 GUCA1A PDE6C PDE6H GUCY2D SLC24A5 AIRE ATF6 IDH3A RPGR PRPH2 PRPF31 CLCC1 PROM1 GNAT2 PMM2 HLA-A KIF3B CWC27 C8orf37 TRNT1 CNGA3 SELENOI CNGB3 HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING IDH3A RPGR KIAA1549 PRPH2 GUCA1A PRPF31 KIF3B CWC27 C8orf37 PROM1 GUCY2D AIRE HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY HLA-A GUCA1A PDE6C PDE6H GUCY2D SLC24A5 TRNT1 ATF6 RPGR PRPH2 CNGA3 CLCC1 GNAT2 PMM2 SELENOI CNGB3 HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE PRPH2 GUCA1A PRPF31 PROM1 GUCY2D AIRE HP_RETINAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NEOVASCULARIZATION FZD4 LRRC32 TREX1 BEST1 NDP LRP5 CAPN5 HP_ANTENATAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTENATAL_ONSET MKS1 KDELR2 CHUK MNS1 MRPS22 FARSA GLUL CYP26B1 BICC1 HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE PRDM16 JUP ACTN2 HCN4 ACTC1 DTNA TNNT2 MYBPC3 NONO MYH7 SDHA LDB3 MIPEP COA6 MIB1 HP_BRAIN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_NEOPLASM APC POLE RELA NF1 DMPK FLI1 POLD1 RB1 C11orf95 HP_CENTRAL_NERVOUS_SYSTEM_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_NERVOUS_SYSTEM_CYST WDR35 FKTN PDHX FKRP SOX4 BUB1B DOK7 EVC C2CD3 LARS2 LONP1 MKS1 AP1S2 ARID2 CEP120 FGFR1 ZIC1 BCOR TXN2 CSPP1 NPHP3 DAG1 USP9X DOCK6 PIGN RPGRIP1 CCDC22 ARID1B TUBB ASXL1 MT-ATP6 TSEN15 LARGE1 RXYLT1 CEP55 BUB1 FARSA PIEZO2 CPLX1 TBC1D24 CTNNB1 SEPSECS WDR81 HYLS1 NSD2 DHCR7 GDF6 ABAT ARMC9 POMT1 POMT2 KIAA0586 NRAS KIF7 SEMA3E AHDC1 VPS51 CRPPA B3GALNT2 PEX1 GPC3 B9D1 PHGDH TMEM107 VSX1 DPH1 ADAR DENND5A LIPT2 SNX14 WASHC5 GFM1 SMARCE1 TSEN2 DYNC2H1 ATP6V0A2 CEP290 CPT2 SMARCA4 POMK DYNC2I2 LAMA1 TSEN54 TUBGCP2 NUP62 OPHN1 NUP88 MYOD1 GRIA3 FTO CDKN1C ODC1 EBP POMGNT1 MAB21L1 PDHB NID1 TMEM216 TMEM67 DPF2 PMM2 GLUL TMEM231 GRM1 LETM1 POLR3A SMG9 WDR73 COL4A1 OFD1 GPC4 COL3A1 GMPPB CC2D2A SOX11 BUB3 TCTN2 IGF2 SUFU PDHA1 SMARCD1 B4GAT1 EXOSC3 TMEM138 B9D2 GLI3 CEP57 D2HGDH PPP1CB B4GALT1 DYNC2I1 EVC2 FGFR2 FAR1 ZSWIM6 RAPSN ATP6V1A TMEM237 CDC42 CTBP1 CHD7 SLC35A2 WDPCP FGFRL1 PLG TSEN34 RPGRIP1L HRAS ARID1A MUSK RNF113A SLC18A3 FLVCR2 IFT80 TRIP13 KCNQ1 KCNQ1OT1 OCRL BRAF KRAS SMARCC2 ATP6V1E1 POMGNT2 KLHL7 SMARCB1 PSAT1 HP_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARCINOMA CDKN1B RSPO1 SMARCA4 POLD1 APC DKC1 MLH1 MSH2 NLRP1 PTEN POLE HP_SACROCOCCYGEAL_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACROCOCCYGEAL_TERATOMA APC2 NSD1 SETBP1 MNX1 SETD2 HP_INTRAVENTRICULAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAVENTRICULAR_HEMORRHAGE SPARC PET100 RNF168 KANSL1 F8 LMBRD1 HP_TOOTH_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOOTH_ABSCESS DMP1 DLX3 ELANE ENPP1 NTRK1 FGF23 PHEX HP_RENAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_FIBROSIS SLC7A7 BSND PKHD1 NDUFAF6 ACP5 NPHP4 PTPRO ANTXR1 NPHP3 MUC1 NPHP1 GBE1 REN CLCN5 HP_EAR_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EAR_PAIN BAP1 TRAF7 TERT SUFU AKT1 KRT17 KRT6B PIK3CA NF2 SMARCE1 KRT6A SMARCB1 KRT16 PDGFB SMO HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY PROC F5 PROS1 NGLY1 DPM1 HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL ABCB4 ATP8B1 FAS PRKCD MEFV PSMB8 SP110 RASGRP1 IL6R CASP10 NR1H4 ABCB11 FADD FASLG POLA1 HP_ANOMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMIA TMEM106B MAPT CHMP2B TREM2 PSEN1 GRN PLP1 C9orf72 HP_PHOTOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPSIA BAP1 GNAQ SCN1A PRRT2 CYSLTR2 ARHGEF18 SF3B1 CACNA1A ATP1A2 GNA11 HP_ABNORMAL_JAW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JAW_MORPHOLOGY APC2 WDR35 CLIP2 COL2A1 NFIX PUF60 CDH11 WNT10A ADGRG6 PEX5 WNT5A AGA ATRX PRMT7 KDM6A SF3B4 KCNH1 SUZ12 SHANK3 RB1 PRKG1 SLC9A6 ABCC9 BRCA1 ERF SPATA5 BICD2 CEP152 DPYD RTEL1 CCDC22 GPC6 TUBB CXorf56 FMR1 PSPH PEX6 ARCN1 CREBBP CEP55 NEDD4L MRPS22 TGFBR1 POGZ TRPS1 ZBTB24 FGFR2 LRP5 LIG4 AKT1 FAM20C HDAC8 BMP4 FRMPD4 TBX15 CENPJ KCTD1 NSD2 NEB DHCR7 PAX1 NSDHL ABAT PIK3R1 ASXL1 SMAD3 FANCM ADA2 GNAI3 HYMAI FGFR1 THOC6 TNNI2 CDT1 ACTL6A RNU4ATAC ITGA8 KIAA0586 BRAT1 ARX BSCL2 RPS26 VPS13A SYT2 EP300 SPEG MSTO1 OFD1 BPTF MSX1 TMEM107 PDE4D BRF1 TBL2 DHODH DGCR8 FBN1 BRCC3 SHOX DEAF1 ITGA7 PEX26 CHRNA1 ZMPSTE24 GLB1 XRCC2 SOS1 CLCF1 GP1BB SETD5 NELFA UBB TXNL4A MUSK RUSC2 ACAN MYOD1 DYNC2I2 PYCR2 ERCC5 MKS1 COG4 EYA1 NF1 BRAF KCNK4 ACTB ORC1 TSEN54 ERCC1 VAC14 SATB2 AXIN2 ERCC8 NBN RAB3GAP2 LIMK1 TP63 SIM1 EDNRA RELN GRHL3 HRAS GRIA3 MSL3 CLCN7 CHAT ALG11 PTPN11 FTO COG7 PLK4 TGFB2 COL11A2 POLR1B GMNN LBR SMS SPECC1L PAX7 PITX2 ATAD3A LAGE3 WDR73 TMEM70 CENPE RPS15A HPDL ACTA1 LRP4 DNMT3B EBP BLM RAD51 YY1 GFPT1 DVL3 SMC3 KIF7 DKC1 TNFSF11 SEMA5A SLC18A3 RBBP8 CHRNG DPH1 MYBPC1 CHRNE TBC1D20 VAMP1 KIFBP PAX3 MAMLD1 IGF1R AIP RECQL4 MAF HSPG2 COL11A1 RSRC1 PUS1 NCAPG2 BPNT2 RBM8A TTN PGAP2 PIGA CDC73 TMEM216 TGDS EIF4A3 KMT2E FANCD2 COMT RLIM GPKOW RHOBTB2 HMGA2 FUT8 MADD TBC1D7 COL6A3 RPL11 CLCN4 RPS19 RTL1 FDFT1 DLG1 ALX3 ASPH MED25 POLD1 RPL10 CTDP1 PAX9 DYM NAA10 PTCH1 FBXL3 DIS3L2 BUB3 TCTN2 MYH7 RUNX2 FLCN HDAC6 PTH1R IRF6 COL13A1 UBE3A PQBP1 PEX10 TWIST2 FGFR3 RAB23 PEX2 COL1A1 RPS10 TRAIP ZBTB20 GRIP1 C12orf57 B3GLCT GLI2 ERCC2 GBA PEPD D2HGDH NHS IL1RAPL1 GTF2H5 LTBP4 UBE3B SLC25A24 RBM10 NSUN2 AMMECR1 GLE1 CANT1 RAB3GAP1 WNT3 MYL2 SIX1 AEBP1 LGI4 FOXE1 PTEN BMP2 NDUFB11 RDH11 ATP7A DOCK3 EDN1 TAF1 KCNJ2 FHL1 DVL1 RPS28 LAMB2 NOTCH3 TBX1 GJA1 FANCC CHN1 ASNS PSMD12 B4GALT7 RRAS OPHN1 LTBP3 DLK1 GEMIN4 PRKAR1A ZEB2 TRIP11 RNF113A NECTIN1 KAT6B ELN B3GALT6 FOS PDGFRB GATA4 LIFR STAG1 FLNA SPOP RIT1 SPRTN IFT80 MYPN SRPX2 NOP10 STRA6 FGF3 SC5D ANTXR1 CUL7 EMG1 EPG5 DCHS1 RPL5 DPAGT1 TPM2 LRRC32 IGF2 HCCS MAD2L2 CWC27 LMNA WDFY3 PPP1R12A ASXL2 FBXW11 MYH8 TMCO1 POC1A SEC31A VPS33B PEX11B INSR CACNA1G DOK7 PGAP3 PTDSS1 TGFBR2 DGCR6 RRAS2 PIGV PRRX1 FZD2 CD96 NALCN MAFB MYT1L PIGN UFD1 PYCR1 VPS53 FOXF1 MAPK1 SLX4 AMER1 ERCC6 TPM3 TRMT1 ACTL6B SMC1A NUP107 RIPK4 LEMD3 ANKRD11 PIK3CA PLAGL1 FOXC1 SOX6 NUP188 MED13 GLDN OCLN INTU FAM149B1 GTF2IRD1 DNAJC21 NEK9 ESS2 TPRKB ESCO2 SEC24D TRRAP RPL15 RFC2 PALB2 SLC25A19 ANK1 PDE6D ZBTB18 RAI1 AHDC1 SEMA3E RPS6KA3 ADAMTSL1 EZH2 GPC3 B9D1 ORC4 ATR SOX18 ORC6 KCNJ6 ALG14 DDX6 KIAA0753 SELENON UNC80 WASHC5 ALG9 ZMIZ1 KNL1 GATA1 PSAT1 KDM6B SON FOXP1 CNOT3 POLR1D SUFU GHR DLX4 ADAMTSL4 ABCD4 MCTP2 EHMT1 CCBE1 TRIO NEPRO FANCE CHST3 CFL2 CAVIN1 NSMCE2 SMAD4 CPLANE1 COASY NEK1 KDM5C KCNK9 CTU2 CEP290 COL5A1 JMJD1C CBL STAG2 PLA2G6 PTCH2 RPL27 PHIP ERGIC1 INTS1 ADAMTS3 CNOT2 CSNK2B SLC25A1 CRLF1 IFT43 TWIST1 UBA1 SIN3A TMEM231 RSPO2 CRPPA TBCD SLC2A10 HYLS1 CASK DSTYK DZIP1L PUS7 SOX9 ATP10A HBB USB1 PIGQ CC2D2A PLAA P4HTM MYMK ARID2 SVBP EDA ACTG1 SLC26A2 SH3BP2 TOE1 MOGS PRRT2 HYOU1 SOST ZC4H2 NIPBL HERC1 FANCB RPL35A ARL6IP6 FOXE3 KBTBD13 SNRPN PIEZO2 HACD1 PIGY RPS7 TGFB3 TFAP2A PEX16 CEP57 COLQ MTX2 AGPAT2 COL9A3 TARS1 CTSK ADAT3 CENPF FANCF CDCA7 XRCC4 TINF2 PRKACB PCGF2 PLXND1 GNPAT COX7B MED13L COL12A1 ODC1 TGFA ARVCF MESD WDPCP TCOF1 SERPINH1 IBA57 CDC6 TOR1A COL6A1 RPGRIP1L AFF4 PREPL STAC3 FLNB CSPP1 PIGO BAZ1B CDC45 MYO9A NSD1 FANCL HS6ST2 ERBB3 MYCN SH3PXD2B KLHL41 LAMA2 TCTN3 OTX2 HNRNPU CDKN1C OCA2 TNNT3 KLHL7 TAB2 STAMBP IDS CSNK2A1 PAH MYO18B P4HB TBX4 GATAD2B TRAPPC4 FARS2 DPM1 ZBTB11 BIN1 ABL1 PIGW PPARG RAC3 BUB1B POLA1 TRIP4 SMPD4 MED12 FBN2 SCYL2 AP1S2 SLC6A17 TSR2 IGBP1 TRMT10A TENT5A SKI LOXL3 CHST14 RPGRIP1 HNRNPH2 NRAS CHRND SLC35C1 ANKLE2 MAP3K20 MBD5 SCN9A C1S ALX4 CPLX1 KIF14 OCRL SEC24C ADAMTS2 MEG3 ATP6V1A GTF2I SETBP1 HBA2 CLTCL1 ANKH MYLK SOS2 TELO2 MIR140 OTUD6B BMPER AUTS2 IGF1 ALX1 PEX13 LRP6 NXN DYNC2H1 SNAP25 WNT10B PPP1R15B MITF ATP6V1B2 UPF3B WDR26 SFRP4 DHCR24 C2CD3 RAB18 MFAP5 WDR4 CNTNAP2 MPLKIP HERC2 NUP88 NTNG1 TCF20 PURA AGRN SNIP1 IQSEC2 CTC1 EFTUD2 PEX3 NOTCH2 DNA2 MRAS CRIPT ARHGAP29 PEX14 CEP135 PLCB4 MAT2A PIGB PCNT RFT1 POLR1C SLC3A1 PI4KA MAP2K1 CNTNAP1 SUMO1 TERC GPC4 PMM2 LETM1 SPRED1 DNMT3A COG5 IFIH1 POLR3A COG8 EED BNC2 KPTN COL3A1 SSR4 PKDCC ERMARD B3GAT3 PEX7 HOXB1 PIEZO1 OSTM1 ATP6AP2 KCNN3 COLEC11 TP53RK BCL11A POLE HBA1 KRAS SMO ERCC4 CA2 TAZ DGCR2 SRY EDARADD HSD17B4 SETD2 NPM1 SLC12A2 MAN2B1 COL1A2 IDUA KAT6A FGD1 DYRK1A COL6A2 RPS24 OSGEP ADGRG1 DPM2 RPL18 GORAB ZDHHC9 SLC12A6 PIK3C2A LOX TRIP13 EXOC7 COG1 MEN1 UBE2T MCM5 RAPSN PHF21A SLC10A7 SP7 RAD21 KIF11 CSGALNACT1 MTM1 APC GLI3 CHSY1 CTNND2 MGAT2 TONSL REV3L CEP120 RASA2 SH2B1 EXTL3 ZNF341 COG6 COL5A2 CTBP1 AP2M1 ATRIP DOCK6 FLII MAPRE2 AP3D1 ACTA2 RAF1 ZNHIT3 BUB1 TERT NUP133 C1R GTF2E2 MEGF8 PNKD DONSON VPS13B ARID1B RREB1 PKHD1 SEC23A TBCE TANC2 MAGEL2 RPL35 MYH11 TBCK RPL31 HIRA POLR1A GSC PEX1 DDR2 PHGDH BCL11B SNRPB SIX5 NRXN1 A2ML1 FANCI COL9A1 NARS1 DSE GPR101 MYH3 PAX6 SOX5 PRKACA RPL26 CHD7 ZNF335 FOXG1 BDNF RAD51C MMP2 CHUK FAT4 TUBGCP2 LMOD3 SLC5A7 SMOC1 RYR1 GAD1 PIGL CDH1 PGM1 MECP2 TGFB1 AIMP2 ROR2 ALG1 WRAP53 NHP2 IRX5 RERE TUBB3 ECEL1 WNT7A TAPT1 ERCC3 PEX12 SCARF2 PIGT SLC6A8 PPP3CA ATPAF2 EMC1 GNPTAB PEX19 RPS17 PYROXD1 CUL4B VPS35L CCNK ANO5 RNF125 BRIP1 CILK1 EFEMP2 GALNS CDK5 SLC29A3 CAV1 LAS1L FIG4 BGN SLC6A9 B9D2 KMT2A PARN CCDC88A ACTG2 EXT2 SALL4 BANF1 DYNC2I1 CLIC2 EXT1 IARS2 AP4M1 HUWE1 SLC35A3 BRCA2 FGFRL1 TMEM67 HNF1B WT1 MAP3K7 RPS29 BCORL1 RARB FLVCR2 TASP1 IGFALS PLAG1 IL11RA ADAMTS10 LZTR1 RFWD3 FANCG RTTN FANCA VARS1 RPS27 COL9A2 YARS2 HNF4A ARNT2 HELLS POMGNT1 SVIL HP_ABNORMAL_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_C_PEPTIDE_LEVEL APPL1 STAT6 GCK KCNJ11 FOS PPARG CAV1 PDX1 CAVIN1 CEL NEUROD1 HNF4A NAB2 INS HNF1A BSCL2 CNOT1 INSR KLF11 HADH PAX4 ABCC8 AGPAT2 BLK HP_REDUCED_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_C_PEPTIDE_LEVEL STAT6 NAB2 GCK KCNJ11 INS CNOT1 HP_INCREASED_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_C_PEPTIDE_LEVEL FOS CAVIN1 AGPAT2 PPARG BSCL2 CAV1 INSR HADH HP_SCAPHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPHOCEPHALY IFT43 IL6ST KRAS GLI3 DPH1 SOX6 ALG14 TWIST1 FBN1 IL11RA FBN2 IFT122 NFIX OFD1 KPTN TRAIP KIF15 TBC1D7 CNTN1 ARCN1 IDS IFT140 PEX19 HSD17B4 HP_ABNORMAL_TONGUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_MORPHOLOGY KCNMA1 WDR35 CLIP2 PPARG FKRP GLI3 TPO COL11A1 MGAT2 C2CD3 WNT5A AGA TSHB ATRX REV3L MKS1 CEP120 SLC5A5 ABCC9 NKX2-1 PRRX1 MYMK KY RPGRIP1 MMACHC MED13L GMPPB SLC35C1 VPS33A RSPO2 FIBP SEC23B CEP55 IDS PIK3CA ZBTB24 TG PLAGL1 KIF7 AKT1 RAB3GAP2 HEXB THRA FAM20C ACVRL1 DUOX2 PSMB8 PTPN22 MEG3 TBX15 FAM149B1 GTF2IRD1 DLK1 ARID1A SLC52A3 NEU1 GTF2I DHCR7 SETBP1 USF3 GSN VPS13B GNAI3 HYMAI DNMT3B COL2A1 CPLANE1 KLLN CCDC22 RFC2 TBCK BSCL2 TRAF3IP2 VPS13A PDE6D FUCA1 LIMS2 GJB2 RAB3GAP1 PEX1 OFD1 IFT140 PAX8 GPC3 B9D1 FDX2 SLC6A19 KDM5C MAN2B1 BCR TMEM107 SNRPB TELO2 TBL2 ECM1 TRIM37 LIFR SNX14 KIAA0753 ACTB GPC4 CRPPA GPR101 PEX16 TSHR SOX5 ERLIN2 INPP5E ZFP57 RIPK4 DYNC2H1 SDHD RBBP8 PIGW FOXG1 POMK INSR DYNC2I2 ATP6V1B2 SLC39A4 DVL3 GAA TGDS CHUK PRKAG2 SMARCB1 MCTP2 IDUA HRAS VAC14 PTDSS1 LIMK1 DUOXA2 EHMT1 EDNRA PTH1R GATA1 CCDC47 CAVIN1 DVL1 EDN1 NFASC FTO FAM111A COG7 SNIP1 PTEN CDKN1C ROR2 NEK1 PANK2 NFIX GRIP1 CEP290 MT-TE FZD2 SH3TC2 ECEL1 NOP56 PKP1 SMARCA4 NKX2-5 POMT2 NRXN1 ENG PLCB4 AIP PIGB CSNK2B POLR1C TMEM216 GNPTAB TBX22 LMNB2 PQBP1 DDX59 POMGNT1 TMEM231 NXN HNRNPK FLNA POMT1 WNT10A IYD CUL4B RNF125 SLC26A4 ALX3 SOX9 LARGE1 MED25 CC2D2A COL11A2 IL6ST CRKL RTL1 TCTN2 IGF2 RBM10 CAV1 FIG4 PIGS AMPD2 POU1F1 SLC46A1 LMBRD1 UBE3A IL36RN KCNN3 SGCG KCNH1 EXOSC3 MAPK1 B9D2 ZMPSTE24 SMO RERE SDHC AGPAT2 TRHR DYNC2I1 CLIC2 FRG1 CDCA7 RUNX2 KRT6A DMPK PLXND1 BTK COL7A1 SLC25A24 KCNJ11 WDPCP TMEM67 FOXE1 TAF1 ADGRG1 RALGAPA1 RPGRIP1L CSPP1 AFF4 GJB6 BMP4 TCOF1 BAZ1B SDHB ELN FOS MMP1 FREM2 IFT80 SRPX2 KCNQ1 ABCC8 KCNQ1OT1 POP1 LAMA2 TCTN3 PI4KA OTX2 POLR1D TRMU OCA2 FRAS1 ARSB MORC2 PIK3C2A HELLS LMNA HP_ABNORMAL_TONGUE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_PHYSIOLOGY SLC52A2 ELP1 PLCB4 SYNGAP1 RETREG1 SLC39A4 ALS2 NOP56 SCN1A SLC52A3 ADPRS TSPYL1 AIFM1 WNK1 FXR1 SMN1 EDN1 MTPAP CACNA1A GNAI3 ASAH1 OPTN SMN2 RMND1 EXOSC3 UBA1 ATP13A2 PRRT2 KCNK9 TUBB4A TBCD NTRK1 KIF1A AGTPBP1 VCP SH3TC2 GAA SCN9A ATP1A2 SLC25A21 FRAS1 HP_ENLARGED_TONSILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_TONSILS IDS IDUA AKT2 CD40LG IL2RA HP_GINGIVAL_RECESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_RECESSION C1R DSP CTSC FIG4 VAC14 HP_ABSENT_FOVEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOVEAL_REFLEX PRPH2 CACNA1F RHO PDE6C RBP4 ATF6 PDE6H RPGR RDH5 RLBP1 HPS6 CNGA3 GNAT2 CNGB3 HP_WHEEZING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHEEZING NME8 SPAG1 RSPH1 GAS2L2 RPGR DNAH1 TTC12 GAS8 CFAP300 DNAH5 TTC25 HLA-DQB1 RSPH4A DNAAF5 SCNN1A CCDC151 ARMC4 DNAL1 SERPINA1 DNAH11 CCDC40 DNAH9 HYDIN CCDC114 DNAI2 HLA-DQA1 LRRC56 SCNN1G DNAAF1 CCDC103 ZMYND10 CFTR CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 CFAP298 LRRC6 DRC1 SCNN1B FOXJ1 CRLF1 NOS1 OFD1 CCDC39 RSPH3 DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 HP_ABNORMAL_BREATH_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BREATH_SOUND NME8 SPAG1 VAMP1 SFTPA1 RPGR CFAP300 DNAH5 SCARF2 HLA-DQB1 RSPH4A SLC25A1 DNAAF5 SCNN1A SCN4A LAMB3 TRPV4 CCDC151 STN1 SERPINA1 COL13A1 MUC5B CCDC40 PARN HYDIN VPS33A TERT CCDC114 DSP FLNA HLA-DQA1 LRRC56 ATP11A CCDC103 SLC5A7 RTEL1 ZMYND10 SLC52A3 TSPYL1 SFTPA2 CFTR CFAP221 ABCA3 CCNO DNAAF6 SPEF2 CFAP298 IGHMBP2 LRRC6 DRC1 SYT2 CRLF1 NOS1 SFTPC SCNN1G STK36 SCNN1B RSPH9 NEK10 D2HGDH CCDC65 DNAAF4 DNAAF2 GNPTAB RSPH1 GAS2L2 DNAH1 TTC12 GAS8 CSF2RB TERC TTC25 SERPING1 ARMC4 DNAL1 DNAH11 MIR140 SNAP25 DNAH9 MAP3K7 GTPBP3 LAMC2 PLP1 DNAI2 SLC18A2 MYO9A CSF2RA PAX8 COQ2 DNAAF1 CHAT LAMA3 DNAJB13 MCIDAS AGRN FAM13A DPP9 FOXJ1 OFD1 CCDC39 RSPH3 DNAI1 SLC18A3 DNAAF3 HP_CRACKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRACKLES SCNN1A SFTPA1 MUC5B DPP9 PARN CSF2RA SCNN1B SCNN1G ATP11A CSF2RB TERC RTEL1 SFTPC TERT SFTPA2 DSP CFTR ABCA3 FAM13A STN1 HP_SHOULDER_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_PAIN CFH HELLPAR CFI PMP22 CD46 HP_HIP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_PAIN COL2A1 BSCL2 VCP HNRNPA2B1 TRPV4 HNRNPA1 ZMPSTE24 LMNA HP_CHOKING_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOKING_EPISODES HTT MYO9A VAMP1 SNAP25 COL13A1 SYT2 CHAT SLC25A1 PLA2G6 SLC5A7 SLC18A3 AGRN SLC2A3 CACNA1A HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY CD55 JAK2 MPL HFE F5 BMPR2 TET2 HP_HETEROTAXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTAXY PKD1L1 LETM1 GDF1 GATA6 MMP21 CRELD1 NODAL ZIC3 FOXJ1 GATA4 CFC1 ACTG2 NSD2 CFAP53 FANCB NR2F2 NELFA KDM3B HP_SCLERAL_STAPHYLOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLERAL_STAPHYLOMA BEST1 PIGT HADHA MC1R OCA2 ARL2 HP_ADDICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDICTIVE_BEHAVIOR TBK1 HTT UNC93B1 BCOR HTR2A PRKAR1A NPM1 TICAM1 FIP1L1 STAT3 NUMA1 ADH1C TLR3 ZBTB16 TBL1XR1 ADH1B GABRA2 PML RARA IRF2BP2 NABP1 SLC2A3 TRAF3 STAT5B HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION PPCS POMT2 MYH11 RYR2 TNNT2 MAT2A FKRP PCSK9 MT-TS2 NKX2-5 WNT5A MT-CYB TGFBR2 MT-CO3 SDHD PRKG1 ABCG5 TBX20 BTNL2 MYPN RRM2B ACTC1 ACTA2 TTN MYH6 LDLRAP1 SMAD4 TWNK MT-TQ TOP3A MT-TF ABCG8 ENPP1 MYH7 CASQ2 SMAD3 MT-TW MT-ND1 FBLN5 SGCG FOXE3 GDF1 GATA6 ELN ZMPSTE24 TGFB3 MT-ND6 MT-TK APOB FBN1 MYLK NONO PRDM16 POLG DMPK MT-TC FLNC SELENON TNNI3 MT-TL1 EYA4 ABCC6 DAXX DVL1 TRDN SDHAF1 GTPBP3 SDHA BMPR2 LDLR GAA MT-TV TAB2 POLG2 MFAP5 TGFBR1 LOX KIF20A HLA-DRB1 CITED2 POMT1 LDB3 MT-CO2 TET2 LAMA2 VHL ATRX TGFB2 ROR2 DYSF MT-ND5 SDHB DLD GATA4 MT-CO1 LMNA EFEMP2 TLL1 SLC25A4 HP_ABNORMALITY_OF_PULMONARY_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION NOD2 PPCS STAT1 JAK2 NFIX PROC NKX2-5 SMAD9 CAV1 CCR6 KIAA0319L SMAD4 PROS1 ALMS1 GBA HLA-DRB1 SFTPA2 NFU1 IRF5 HBB GNAQ THPO MUC5B MMACHC TCIRG1 EOGT FOXF1 ACTC1 MT-ND1 FGFR1 VPS33A MYH6 NOTCH1 AGGF1 STAT4 TNFSF11 KRT18 ACVRL1 RBPJ IL23R IL10 PIEZO1 CACNA1D FAS CD55 CBS ENG IKBKG PTEN MT-CO1 GATA6 IL12B MT-TS2 MT-ND5 FBN1 COX7B LIFR SLC4A1 SLC37A4 COX5A EIF2AK4 COL1A2 PIGN LIPT1 ARHGAP31 FOXP1 MT-ND6 COG1 UBAC2 ABCD4 BMPR2 SERPINC1 KRAS VAC14 SARS2 KIF20A CITED2 MTHFR MT-TL1 IL12A UBE2A MT-TH SPECC1L IL12A-AS1 GATA4 SNX10 C4A MED12 DLK1 TLL1 ATP5F1A FLNA MLX DLL4 COX6B1 TNNT2 GJA1 HSPG2 CHST3 TBX20 MYPN MPL KCNK3 MGP CCR1 NF1 MT-TF MED25 SLC29A3 ENPP1 PIGA FIG4 MT-CO3 PLP1 MT-TQ CTCF MEG3 COL1A1 NKX2-1 HABP2 RTL1 ZMPSTE24 PAM16 ACTA2 COLQ GDF2 SFTPB AKT1 BANF1 CLCN7 ERAP1 TLR4 IDUA FLNC TNNI3 ABCC6 SLC25A24 LIPA DOCK6 G6PC3 LAMB2 COX8A CCN2 AFF4 PDSS1 TERT TBX4 HLA-B MEFV KRT8 KLRC4 MT-TW TET2 LAMA2 F2 SCARB2 MT-ND4 KCNJ5 BTNL2 KCNN4 NDUFB10 SFTPC F13A1 FGFR3 MT-CO2 LMNA HP_REDUCED_FEV1_FVC_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FEV1_FVC_RATIO SCNN1A CFTR SCNN1B SCNN1G ENG HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING ACTA1 AK9 MUSK CR2 ITCH CHRNA1 TRAF7 TERT TNFRSF13C ENG FKRP SELENON CHRND SMARCE1 BAG3 ALMS1 HLA-DRB1 SFTPA2 MAP3K20 VCP CSF2RA RNU4ATAC MUC5B ACTN2 ACP5 HPS4 PYROXD1 IDS TPM3 MT-TL1 CHRNB1 MYH7 NEK10 HES7 FARSA MT-TL2 B3GALT6 GALNS SCNN1A PIEZO2 COPA COL13A1 TNFSF12 MESP2 CD81 MCIDAS NLRP3 MEGF10 NEB TSC1 TSC2 CFTR MEG3 KBTBD13 HACD1 PRTN3 AGRN SLC34A2 SUFU TRAPPC11 RAPSN RTL1 RYR1 BAP1 SMARCB1 GNPTAB DDR2 HPS1 FRG1 KLHL41 SFTPC SGCG TTN LRP4 MYL2 ITGA7 CSF2RB CHRNE LRP12 COL6A2 CRPPA PARN NF2 XYLT1 EIF2AK4 RNF168 SCN4A MT-TN GLB1 PDGFB HLA-DPA1 SYNE1 FLNB TOR1A NFKB2 XYLT2 STAC3 CHCHD10 CTLA4 SLC25A21 HLA-B DOK7 MS4A1 SLC12A6 AKT1 SCNN1G TNFRSF13B DNASE1L3 COL2A1 NDUFAF6 FGFR3 MYPN TPM2 HLA-DPB1 PTPN22 ABCC6 GZF1 NFKB1 MYOT SCNN1B CD19 PIK3CA PRKCD BTNL2 RTEL1 DKC1 DLK1 PLOD1 IKZF1 SMO ICOS HP_RAYNAUD_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAYNAUD_PHENOMENON RNASEH2B ADAR GUCY1A1 SLC12A3 COQ2 RNASEH2A TREX1 SPP1 COL4A1 STAT4 STING1 CLCNKB SAMHD1 RNASEH2C ACP5 IRAK1 ZMPSTE24 ADA2 RNF125 AGXT IFIH1 LBR LMNA HP_CORONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ANEURYSM PRKG1 LDLRAP1 LDLR ABCG8 APOB PCSK9 ABCG5 HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI RFT1 COL4A1 PLP1 ARSA CNP HTRA1 DDHD2 STRADA SLC39A14 PSAP GFM2 ACTL6B TREX1 ODC1 AHCY CYP7B1 CACNA1G B4GALNT1 NOTCH3 MMACHC GM2A AP5Z1 PYCR2 ACTA2 PUS3 UBTF ATN1 GAA NKX6-2 TRAPPC12 MSTO1 ZFYVE26 SELENOI RARS1 PDP1 PAK1 HP_PERIVENTRICULAR_WHITE_MATTER_HYPERDENSITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERDENSITIES ARSA PSAP CNP MMACHC GM2A DDHD2 STRADA ACTA2 ACTL6B SELENOI PAK1 HP_ABNORMAL_PERISTALSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERISTALSIS AAAS IARS2 MYH11 SAMD9 MYLK GUCY1A1 IVNS1ABP GMPPA FLVCR1 ACTB ACTA2 GLA RAD21 COL4A5 CLMP ACTG2 TRAPPC11 STAT3 COL4A6 LMOD1 HP_LOW_APGAR_SCORE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_APGAR_SCORE PNPO USP9X PDHA1 LONP1 MCTP2 PRPS1 HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL COG6 DZIP1L TREX1 GPC1 PKHD1 SLC25A13 ALMS1 HP_GLOMERULAR_DEPOSITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULAR_DEPOSITS COL4A5 NUP107 CEP83 MMP1 MME COL4A4 DGKE COL7A1 ARHGDIA GATA3 COL4A3 CFH SPRY2 HP_PULMONARY_VENOUS_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_VENOUS_HYPERTENSION FLNC TNNI3 KCNN4 MYPN TNNT2 SLC4A1 KIF20A PIEZO1 HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY CLIP2 ACTC1 SCN1B NODAL SALL4 TRDN CDKN1A PCSK9 CALM3 MT-TS2 DSP SCNN1G PEX19 PKP2 RMRP PLN SCN5A MT-CO3 KCNQ1 KCNE2 ABCG5 CALM1 TTPA FHL1 SNTA1 GNAQ BTNL2 DISP1 CPT1A VHL PPA2 HNF1A HFE PCCA SCN9A SEMA3A TNNI3 MT-ND1 SLC19A2 HNF4A SIX3 RYR1 CAV3 CYP11B1 TGFBR1 APRT TOP3A MT-TF MT-TK CDH23 PSMB8 PTPN22 PEX1 COX7B ABCA3 ABCC8 NUP155 ATP6V1A MT-TE CASQ2 NEU1 GTF2I TSPYL1 NDUFB11 GSN GJA5 GPX4 PEX10 MYH7 MT-ND2 BRAT1 MT-CO1 LMNA GNAS SGO1 TGFB3 EP300 MT-ATP8 TMEM43 MEN1 MT-TV TANGO2 SMC1A BPTF AKAP10 SOS2 TSC1 SHH BRF1 TBL2 MT-ND5 FBP1 POLG2 TCAP GPC3 MT-TC GABRA3 GFM2 TECRL SOS1 CLCF1 SPECC1L NKX2-5 COL4A1 MTO1 LIPT1 SDHD DAXX CPT2 KCNJ5 TSHR GNB5 SDHAF1 HADHB PEX13 MT-ND6 LAMP2 CREBBP SDHA LAMC2 GAA PRKAG2 CDON KIF1B AGXT HRAS RYR2 ERCC8 LIMK1 MT-ND4 PTCH1 GPD1L DLL1 MT-ATP6 SLC40A1 GATA4 SLC25A11 KIF20A GAS1 HLA-DRB1 MT-TL1 DTNA KCNJ18 UQCRFS1 CSRP3 ALPK3 PTPN11 ENPP1 TNNI3K DCAF17 NDUFS2 LDB3 SLMAP NR2F2 SFTPB RNASEH1 PCCB SCO1 FMO3 LARS2 TMEM70 MRAS CACNA2D1 KCNJ2 NPPA GALC DMPK MYL4 ZIC2 MTFMT PEX11B PHOX2B ANK2 GLA TRPM4 TDGF1 PEX12 HCCS TNNT2 SDHB POMT2 MT-CYB HSPG2 KCND3 TBX5 FXN SCNN1A PEX7 TGIF1 WIPF1 GLUL MRPS14 CDC73 TBX20 DNMT3A MYPN MYBPC3 KYNU HADH MADD PSAP GPC4 CITED2 CACNB2 FOXC2 TWNK MT-TQ GNA11 NDUFAF3 PEX6 GJA1 NAA10 GDAP1 ABCG8 IFNG CDKN2B AKAP9 PSMD12 WIPI2 MT-TW MFAP5 PRTN3 PIK3CA FGF8 CRELD1 KRAS KCNJ8 ABCC9 CACNA1S SCNN1B KCNE1 BRAF TAZ SRY AKT1 SLC25A20 HMBS XK MAX CSF2RB HTRA2 FLNC TTN RET BMP2 CALM2 HLA-DPA1 SCN4B NDUFB8 CACNA1D ACADM KCNJ11 CLIC2 NEXN GNAI2 DES SDHC ATP6V1E1 LDLR GLI2 RRAS CTLA4 RUNX1 HLA-B DLST TLL1 ELN MEFV TNNC1 CSF2RA SLC12A3 RIT1 FGFR1 MRPL12 LAMA3 RAF1 COQ9 GATA6 JPH2 RANGRF PHYH KCNE5 KCNH2 PPOX RRM2B TBX3 SURF1 CPOX PEX5 TMEM127 CACNA1C TTR TPM3 RRAS2 CAVIN1 NRAS RASA2 SCN2B SELENON CASR EPAS1 TET2 FLAD1 TPM2 CTNNA3 ELP1 VPS33A MYH6 SFTPC GTPBP3 ACADVL TDP2 SDHAF2 GTF2IRD1 FH TAB2 PYGM PTEN EMD USP18 SRSF2 RFC2 CNBP SMAD3 SCN3B DMD MGME1 MYOZ2 PEX14 DST PRDM16 PLEC CDKN1B ERCC6 ASXL1 A2ML1 KCNA5 NOS1AP ALG10B EYA4 CLCNKB STAG2 SOX10 MT-ND4L PEX26 DPP6 SLC2A10 SCN4A TNXB ACAD9 GYG1 MTM1 HCN4 SYNE2 PGM1 GBA NF1 MT-CO2 ATRX MT-TH JUP HADHA CBL FOXH1 CRLF1 SCN10A IKZF1 LRP6 GMPPB LAMB3 ABCA12 MECP2 STX16 CYP17A1 CDKN2C HDAC4 WAS TPM1 DNAJC19 MMP2 KCNK3 ACTA1 GATAD1 IDS LDLRAP1 EFEMP2 HBB DBH DSG2 TGFBR2 ABCC6 FBXL4 MYL2 CDH2 KCNE3 GDNF PEX16 GATA5 PPP1CB APOB BANF1 POLG MMP14 ACTN2 MDH2 UCP2 ISCU CIZ1 PEX3 HMGCL HJV TOR1A BAZ1B COQ4 PAX8 HLA-DPB1 LZTR1 LAMA2 RBM20 DYSF BVES MT-ND3 DSC2 MYLK2 PIGU TSC2 MYL3 SYNE1 PEX2 TP53 SCO2 SLC25A4 SVIL ECE1 HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS NOD2 KDM6A CLIP2 CYP7A1 PUF60 GJA5 HES7 PCSK9 CXCR4 DLL1 SF3B4 KCNH1 SHANK3 PRKG1 BRCA1 FGFR1 ZFPM2 TTC37 MGP SIX3 CCDC22 NOTCH2 TBX1 EOGT ELN CCDC114 NOTCH1 KANSL1 NODAL TGFBR1 GJA8 NPHP3 GDF1 DISP1 CCDC103 FMR1 DHCR7 SMAD3 FANCM ADA2 HYMAI THOC6 ACTL6A RNU4ATAC KCNJ8 WT1 ARX WDR37 LRRC6 FN1 RPS26 EP300 FOXF1 BPTF BRF1 TBL2 DGCR8 FBN1 GAS8 GPC3 COX7B GATA4 ROBO4 XRCC2 SOS1 GP1BB MYH11 GAS1 LMX1B CCNQ DNAH9 KCNE5 BICC1 CARS1 MASP1 GPC6 BRAF SKIV2L ACTB NEK8 VAC14 LIMK1 TRAF7 TP63 RPS15A DNAAF1 GJA1 UQCRFS1 FTO COL18A1 TGFB2 SPECC1L LARS2 NADSYN1 SNX10 RAD51 DVL3 EFEMP2 CHRNG WRN MLX SHH NCAPG2 RBM8A SIX6 TGDS KMT2E FANCD2 COMT MKKS TSC2 CDK8 ANKS6 RPL11 RPS19 MED25 MRPS16 RPL10 NAA10 CRKL DIS3L2 ABCG8 BUB3 ENPP1 PIGL HPGD PQBP1 SPEF2 RAB23 RIT1 RPS10 CRELD1 TRAIP C12orf57 B3GLCT CFAP53 NONO DNAAF2 DLL3 SIK3 LTBP4 SLC25A24 RBM10 AMMECR1 PKD1 DNAH1 TTC25 AEBP1 FLNA NSD1 RPS28 NOTCH3 FOXC2 FANCC KMT2D PSMD12 LDLR THSD1 RRAS PPP2R1A ZEB2 TRIP11 TLL1 CDON KAT6B STRA6 HNRNPK GATA6 RPL5 WAC WDR35 MAD2L2 ZIC2 NKX2-5 CCDC39 WDFY3 RERE TMCO1 NME8 KRAS ERCC6 TGFBR2 DGCR6 MKS1 CCDC151 RRAS2 CD96 USP9X MYT1L PIGN UFD1 TCIRG1 SLX4 AMER1 SMAD4 TRMT1 ACTL6B KAT8 RAI1 TNFSF11 PLAGL1 KDM3B PGM3 TBC1D24 ADK ZNF462 HIBCH MED13 INTU GTF2IRD1 ZMYND10 NEK9 ESS2 DNAAF6 ESCO2 TRRAP RPL15 RFC2 PALB2 MYPN TMTC3 ANK1 ZIC3 FBN2 SEMA3E TGFBR3 HRAS DNAAF4 DYRK1A BCR PKD1L1 ADAR FGF8 DDX6 WASHC5 FOXE3 ZMIZ1 GATA1 DNAH11 SON EXT2 SOX2 PTPN11 ABCD4 CDH2 SSR4 BMPR2 MCTP2 MYH7 EHMT1 COL1A1 SETD2 WDPCP FANCE CHST3 PRDM6 KCNN3 COL2A1 RIN2 MAF NKX2-6 CTU2 COL5A1 MAP1B CFC1 JMJD1C CBL STAG2 CRTAP RPL27 SPAG1 DLL4 RSPRY1 MYOCD DDX59 LZTR1 NRAS CYP17A1 SMAD6 HYDIN MMP2 SLC2A10 ACTA2 HGD TBX5 LDLRAP1 SVBP TREX1 RPL35A ARL6IP6 POR PRDM16 RPS7 DRC1 TGFB3 TDGF1 GATA5 CEP57 TFAP2B NEDD4L ADAT3 FANCF PEX19 SUFU MMP14 PRKACB PCGF2 ERMARD RLIM RNASEH2A GLI3 CHD7 ARVCF DACT1 FLI1 TSC1 HDAC4 FLT4 AFF4 ABCC9 TALDO1 FBLN5 BAZ1B COQ4 ZMPSTE24 FANCL MED13L SALL1 FGFR3 MYCN DNAJB13 POLR1D LFNG FKTN FKBP14 RSPH3 IDS PAH UMPS TRAPPC4 GBA PLOD1 DPM1 ABL1 RNASEH2B IFT43 SALL4 BUB1B TRIP4 CALM3 RSPH4A ARFGEF2 ABCG5 LMNA BCOR TSR2 IGBP1 SAMHD1 MEIS2 MLXIPL CITED2 RSPO2 CYP11B1 AGGF1 B3GALT6 FBXW11 SEC24C RBPJ PTPN22 GTF2I YY1AP1 PTEN NDUFB11 CCNO IL12B MYLK KYNU NEK10 CCDC65 SOS2 TELO2 SRCAP RSPH1 GAS2L2 DOCK3 SNX14 ALX1 WNT4 PRKCD EIF2AK4 DNAL1 ARHGAP31 MAP3K7 COL3A1 CREBBP DYNC2LI1 DHCR24 DNAI2 C2CD3 MFAP5 NR2F2 DTNA NTNG1 TCF20 UBE2A COL1A2 PTCH1 LOX NFIX RNASEH2C MRAS PKD2 OFD1 IFIH1 DNAAF3 MEGF8 HCCS MAT2A NID1 TKT POLR1C DNAAF5 MAP2K1 DNMT3A TMEM94 RBP4 SMC1A ACVR2B ALG8 MESP2 SMG9 CHRM3 B3GAT3 LEMD3 DDX11 PIK3R2 CTCF MAPK1 KCNAB2 ANGPTL6 RIPPLY2 MED12 ERCC4 STXBP1 RSPH9 DGCR2 SRY TMEM260 KAT6A CDC42 ERCC8 ABCC6 RPS24 ALG12 ARMC4 SLC35A2 WDR26 RPL18 TBX20 GABRD ALDH18A1 TRIP13 APOE LRRC56 UBE2T PIGT DNAI1 TSFM CSGALNACT1 PACS1 FANCB RPGR TPM3 ACSL4 CEP120 RASA2 COG6 COL5A2 ARID1B TPM2 VPS33A BUB1 JAG1 ARF1 BMPR1A PLCB3 RREB1 USP18 TANC2 CFAP298 RPL35 RPL31 HIRA POLR1A ZNF148 FLNB STK36 PEX1 NKAP BCL11B TGIF1 SNRPN LIFR A2ML1 FANCI GPC4 GLI2 ASCC1 FOXH1 RAF1 RPL26 RAD51C SKI BMP2 POLA1 GANAB MMP21 PTH1R MYH3 PHGDH TBX2 FOXJ1 DLK1 CHD4 RAC1 CFAP300 DNAH5 MYRF NXN CCDC40 SMC3 FOXC1 RPS17 CACNA1C PCNT NF1 BRIP1 FADD EED SLC29A3 SAMD9 BGN FIG4 APC2 CFAP221 MEG3 RTL1 IGF2 PPP1CB APOB FGFR2 CLCN7 TTC12 SNRPB BRCA2 ROR2 DOCK6 G6PC3 ENG NSMCE2 ALX3 RPS29 TAB2 TBX4 TCOF1 BCORL1 HLA-B ADAMTS10 RFWD3 MCIDAS FANCG FANCA PORCN RPS27 UBE3B ECE1 HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE NOD2 STAT1 CLIP2 CYP11A1 SUGCT CDKN1A PROP1 PCSK9 CD46 NPHP1 MT-TS2 PRKAR1A DHPS TBX1 SCNN1G SMAD4 MT-CO3 PRKG1 FARSB ABCG5 AIP TRAF3IP1 KCNJ1 HSD11B2 NFU1 MGP CYP11B2 BTNL2 DIS3L2 VHL NOTCH2 EOGT IFT27 ENPP1 MLXIPL NOTCH1 RYR1 CFI CYP11B1 B2M APRT PRKACA AGTR1 ALX4 MT-TF SEC24C KRT18 MT-TK RBPJ CDH23 SP110 ABCA3 CACNA1D GATA5 MT-TE KCTD1 GTF2I YY1AP1 CBS GSN SMAD3 KCNJ5 HFE ENG MYH7 PKD1 ITGA8 CLCNKB ABCC6 CLDN1 IL12B AGT JAK2 COQ2 NPHP3 FBN1 MYLK CLCN2 PDE3A ARMC5 DCTN1 TBL2 LHX4 BRCC3 LMX1B NKX2-5 TMEM67 G6PC EGFR MT-TC CYP3A5 INPP5E GP1BB CFH POU2AF1 MAFB ARHGAP31 MEN1 DAXX COL3A1 TNFRSF11B BICC1 FN1 XYLT2 PRKAG2 KIF1B VAC14 C8orf37 ERCC8 LIMK1 MFAP5 SHPK TRIP13 CEP290 HGD SLC25A11 HLA-DRB1 CORIN INVS TRIM28 GLI2 NNT SFTPB NOTCH3 SMARCAL1 TGFB2 ARL6 GPC3 NFIX FMO3 LARS2 COL5A1 ALMS1 GBE1 MT-CO1 LRRK2 PKD2 COQ7 MC2R WT1 FUZ GBA FLT1 STAT2 WRN MTTP GLA RPGRIP1L MLX TET2 MAT2A SDHB C3 PDE8B GMPPA MT-CYB GDF2 SCNN1A F5 SPIB CFHR1 COMT TSC2 KYNU MTRR AAAS PDE4D DYRK1B BNC2 MMEL1 SLC30A10 ACE OFD1 PDE11A MT-TQ GNA11 GLIS3 USP8 ABCG8 MT-TL1 TRIM32 CDKN2B BBIP1 BSCL2 LEMD3 MUC1 TREX1 MT-TW TTR BBS9 PRTN3 ANGPTL6 BRCA2 WNK1 ACTA2 IQCB1 MT-ND6 FMR1 GNB3 IL12RB1 NR3C2 HBB HESX1 SLC25A20 NR3C1 HMBS MAX SLC12A1 XYLT1 IFT172 RET SERPING1 OSGEP HLA-DPA1 SNCA PPARG XPNPEP3 ACP5 TXNRD2 PKHD1 SDHC LDLR WDR19 STOX1 THSD1 TRPC6 CTLA4 RUNX1 DLST KRT8 TGFBR1 ELN LOX CD2AP IRF5 TNPO3 FOXA2 SLC12A3 CCN2 PTPN22 NTRK1 PHF21A CACNA1H WDR35 SDCCAG8 TTC8 EDA SCNN1B TCF4 MEF2A PPOX APOA1 LMNA SLC37A4 CPOX LYZ WDPCP TMEM127 ERCC4 HPSE2 ERCC6 LZTFL1 DNAJB11 TGFBR2 TMEM70 COL5A2 CASR VPS35 EPAS1 DNAJC13 UFD1 SIM1 DDC CYB561 ELP1 DBH PLIN1 POU1F1 SFTPC BBS1 HEXB ITCH ACVRL1 TBX19 SDHAF2 GTF2IRD1 TJP2 FH REN BBS10 CAV1 COL1A1 LRIG2 RREB1 COL4A3 SRSF2 RFC2 CALR MYH11 GUCY1A1 CYP21A2 HIRA TGFBR3 ALB SDHD THBD CDKN1B ADA2 HSD3B2 ASXL1 MDM2 GPR101 GCH1 LMNB1 CEP164 ADD1 NEUROG3 ADAMTSL4 FGFR2 CFB PTGIS BMPR2 POU3F4 H19 REST SLC2A10 MT-TV IDUA GANAB ECE1 SDHA KCNMB1 TNFSF15 NDUFAF6 DCDC2 TNFRSF11A BBS7 EIF4G1 PSAP CCR6 POU6F2 NF1 MT-CO2 ATRX CBL JMJD1C HELLPAR STN1 CFHR3 AVPR2 SPRY2 SAA1 LRP6 ACAT1 VANGL1 MST1 IL12A DLL4 CC2D2A ARSA COL4A4 GJA1 CHCHD2 STAR LEP CYP17A1 DGUOK CDKN2C KLHL3 SMAD6 ACTN4 MMP2 GNAS SERPINA6 IDS LDLRAP1 DZIP1L NOS3 CEP19 MYMK FGA INF2 FIG4 CUL3 CCDC28B MKKS BBS5 MT-ND1 POR FOXE3 BBS4 GDNF ZMPSTE24 TGFB3 PAM16 SCN2B ABCB6 EXT2 APOB GPR35 PIGM BANF1 WNK4 CCND1 BBS12 MMP14 DNMT3A TMEM237 MDH2 ARVCF SH2B3 DOCK6 CHRNA3 MKS1 COL4A5 NSMCE2 TSC1 HMGCL NPHP4 SOX3 BAZ1B HLA-B MRAP EDA2R MPL GIGYF2 HLA-DPB1 MT-ND5 LEPR OTX2 NFKB2 TP53 ATP7A MC4R BBS2 HP_POSTEXERTIONAL_MALAISE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTEXERTIONAL_MALAISE KCNE1 KCNQ1 COMP PYGL COL9A2 COL9A1 PYGM COL9A3 SVIL HP_SCLEROSING_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSING_CHOLANGITIS RFXANK RFXAP CD40LG DCDC2 RFX5 CIITA HP_LINGUAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LINGUAL_DYSTONIA THAP1 ATP13A2 GNAL NGLY1 VPS13A HP_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOSIS FGFR1 GNAS MUSK MBTPS2 GDF5 GNAI3 FGFR2 ZMPSTE24 PERP ADGRG6 WNT7A PTDSS1 ENPP1 TNFRSF11B MMP2 NOG NONO TRPV3 LMNA PLCB4 HP_BONE_MARROW_HYPERCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPERCELLULARITY SLC7A7 PRKAR1A NPM1 FIP1L1 TET2 RASGRP1 CXCR4 ZBTB16 PML RARA MPL CASP10 NABP1 FAS STAT5B BCOR PRKCD CALR STAT3 NUMA1 RPS14 JAK2 TBL1XR1 SRC IRF2BP2 FASLG HP_CHRONIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_INFECTION PRKAR1A NPM1 FIP1L1 MAGT1 ZBTB16 TCIRG1 SF3B1 PML RARA NABP1 STAT5B BCOR CARD9 HBB STAT3 NUMA1 TET2 RPS14 TBL1XR1 CLCN7 PLEKHM1 IRF2BP2 BCHE HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING SPG11 SQSTM1 CDKN1A SCN9A HPSE2 NEXMIF TBX1 SMARCE1 PDGFRB DMD ALMS1 KIF5A SLC9A6 GDI1 VCP MTMR14 COL2A1 AP5Z1 NIPA1 PSAP UFD1 RTN2 GABRG2 DNMT1 FUS B2M SPG7 HEXB ARSA SEC24C KCND3 ARHGEF6 SBF1 GBA2 RPS6KA3 ALDH18A1 HTRA1 PDGFB LRIG2 RREB1 MYF6 RETREG1 RYR1 HIRA BAP1 DLG3 COQ2 PDCD1 SLC20A2 SMARCB1 GABRA1 BCR CDKN1B JRK ATL1 TRPV4 GP1BB UPF3B TIMM50 DSTYK CLCNKB ATP13A2 DKK1 USP9X IQSEC2 SACS SYNE1 FITM2 SCN4A TRIO GABRB3 FLVCR1 AKT1 C19orf12 MORC2 SALL1 DNM2 SIGMAR1 NOTCH2NLC MED12 MNX1 FA2H ACSF3 ACSL4 NOTCH3 SLC44A1 BIN1 TP63 JMJD1C FUZ NOP56 SMO GJC2 PRDM8 VANGL1 TRAF7 TERT EIF2AK2 TYROBP STUB1 ZNF81 CYP7B1 HLA-DRB1 PAK3 CDKN2C COMT COG5 KCNC3 TBXT ALS2 SYP MECP2 BNC2 PANK2 DDHD2 AUH MID2 CACNA1H CCL2 ZFYVE26 PEX11B CRKL CDKN2B AGTR2 ZNF711 ZEB2 SLC1A4 PLP1 ABCD1 ZC4H2 CACNA1G TTR MEN1 MAPK1 CNKSR2 SPAST IGHMBP2 SUFU WASHC5 IFT57 FMR1 CLCN4 HSPD1 SLC2A1 ALG13 ATXN8OS HMBS TBCD ZNF41 CFAP43 GALNT2 NF2 HACE1 ATXN10 PTCHD1 ARVCF ATRX TSPAN7 RAB39B DACT1 CPT1C SLC9A7 TBP GALC FRMPD4 ADNP ISL1 USP27X GBE1 ARX SLC16A2 CXorf56 SLC12A3 CAPN1 VANGL2 HS6ST2 CHMP2B IL1RAPL1 FTSJ1 PIK3CA HCFC1 FARS2 HLA-DQB1 HP_ABNORMAL_OVARIAN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_MORPHOLOGY TP63 BNC1 CLIP2 STK11 WT1 F7 NDNF PPARG NUP107 SPRY4 FSHR NR5A1 PSMC3IP ARL6 WDPCP DHX37 CYP19A1 GNRH1 LZTFL1 PRKAR1A LARS2 SRY ALMS1 PMM2 DUSP6 LEP CYP17A1 FGF8 MMP2 IFT27 FIGLA BSCL2 SEC23B PLIN1 CYP11B1 PIK3CA FGFR1 CEP290 BBS1 MAP3K1 AKT1 GNAS SOX9 NSMF DHH KISS1R AKT2 TRIM32 CAV1 BBIP1 GTF2IRD1 CIDEC ZFPM2 GTF2I BBS10 SETBP1 USF3 MKKS CBX2 MSX1 BBS5 PROKR2 LMNB2 PTEN POR BBS9 KLLN RFC2 PAX6 BBS4 TAC3 PRLR FGF17 DCAF17 POLR3H SDHC NR0B1 AGPAT2 SPIDR PHKA2 ERAL1 TACR3 VAMP7 DMRT3 GNRHR SOX3 ESR1 LIPE SETD2 BBS12 LHB TBL2 MMP14 HSD3B2 NTHL1 HS6ST1 LMNA DMRT1 IFT172 WDR11 GATA4 BMP15 SDHD ATM MKS1 INSR HARS2 CYB5A PHKG2 STOX1 HNF1A C8orf37 BAZ1B SDHB LIMK1 ELN NPHP1 FOS BBS7 CHD7 ANTXR2 CORIN SDCCAG8 CAVIN1 PTPN11 ANOS1 MRPS22 MCM8 LEPR TTC8 MSH3 MT-CYB PPP1R12A PROK2 OFD1 FLT1 KISS1 BBS2 WWOX HP_ABNORMAL_OVARIAN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_PHYSIOLOGY BNC1 FMR1 NUP107 SPRY4 NBN FSHR EIF2B1 FOXL2 PSMC3IP NPHP1 ATM LARS2 DUSP6 TRAF3IP1 FAS HFM1 FGF8 EIF2B4 FIGLA CDH23 ANAPC1 NR5A1 FGFR1 MCM3AP NSMF USP8 KISS1R XRCC2 EIF2B5 PROKR2 GALK1 THOC6 PRKCD TAC3 PRLR ZMPSTE24 FGF17 DCAF17 IQCB1 POLR3H SPIDR ERAL1 TACR3 GNRHR FSHB GALT PMM2 AARS2 HS6ST1 INVS STAG3 TWNK BMP15 POLG CASP10 WDR11 CEP164 RCBTB1 NOBOX AIP EIF2B2 MEN1 NPHP4 WDR19 DIAPH2 EIF2B3 BMP4 TTI2 RASGRP1 LMNA CEP290 AIRE CHD7 ANOS1 MRPS22 B4GALNT1 RIN2 MCM8 GNRH1 SDCCAG8 NPHP3 BLM PROK2 POF1B KISS1 FASLG HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY MRAP GNAS TXNRD2 RBM28 SP110 GH1 GHRHR MC2R LHX4 STAR PPOX NNT HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST GHRHR MRAP MC2R LHX4 TXNRD2 RBM28 GH1 STAR NNT HP_DECREASED_PREALBUMIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PREALBUMIN_LEVEL CRLF1 NOS1 HLA-DQB1 FOXP3 HLA-DQA1 HP_ABNORMAL_HUMERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HUMERUS_MORPHOLOGY FLNB RNU4ATAC RSPO2 GNPTAB SLC26A2 ATP7A HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL DUOX2 SMARCAL1 NKX2-1 PRKAR1A PDGFRB TSHR IRS4 SLC16A2 CDH23 PSMB8 PAX8 SECISBP2 THRB DCAF17 TBL1X ALMS1 PMM2 SLC35A2 HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL NDN MAGEL2 SNRPN OCA2 XRCC2 HP_ABNORMAL_UTERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UTERUS_MORPHOLOGY WDR35 BMPR1A POLE STK11 MSH6 PDGFRL AXIN2 CXCR4 PRKAR1A HOXA13 LARS2 HNF1B MLH3 SF3B4 POLD1 BRCA1 NDP SLC6A17 CDKN1B CDC73 AKT1 TP53 COL5A2 CTNNB1 FANCD2 PIGN SLX4 LRP2 SEC23B BRIP1 PTPRJ CDH1 GATA3 TGFBR1 PIK3CA FANCB STAT6 GREM1 TNXB HYLS1 FLCN MLH1 DLC1 DHCR7 PTEN USF3 FANCM COL1A1 THOC6 TGFBR2 ITGA8 ESCO2 KLLN APC PALB2 FH BUB1B SMAD3 ERCC4 SDHC RPS6KA3 SRY DYNC2I1 FRAS1 FANCF COL4A6 NRAS MCC DMPK NTHL1 FANCI AURKA CCND1 MSH3 ALG9 EP300 XRCC2 FLI1 BRCA2 DCC CCNQ DYNC2H1 SDHD FANCC CREBBP RAD51C DYNC2I2 PMS2 BAX COL3A1 COL4A5 AXIN1 SETBP1 BUB1 SDHB RARB SPECC1L FGFR3 DACT1 FREM2 FANCL RPS20 IFT80 SRC FANCE STRA6 SALL1 MSH2 PHGDH UBE2T RFWD3 INTU MNX1 FANCG PLA2G2A NAB2 FANCA RAD54B MAD2L2 GRIP1 COL5A1 TLR2 PTPN12 SEMA4A RAD51 PPP1R12A HNF4A HP_TRICEPS_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICEPS_WEAKNESS AK9 MUSK CHRNA1 AGRN RAPSN LRP4 COL13A1 CHRNE POMT1 CHRND SCN4A CHRNB1 MFN2 DYSF MYH7 FBXO38 DOK7 ADSS1 HP_RECURRENT_GASTROENTERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GASTROENTERITIS MAN2B1 CD3G CD3E SP110 ADAM17 DCLRE1C FOXP3 IRF9 SLC35C1 VPS33A BLM EGFR ADAT3 HP_THINNING_OF_DESCEMET_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THINNING_OF_DESCEMET_MEMBRANE FOXC1 FOXE3 PAX6 CYP1B1 PITX2 OVOL2 HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE TSEN15 NGLY1 TSEN34 BRAF TSEN54 PLAA TAF1 PMP22 SEPSECS TSEN2 HP_MULTIFOCAL_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_SEIZURES PIGQ BRAT1 TANGO2 CDKL5 CARS2 TBCK SMC1A SLC13A5 WARS2 GALNT2 HP_NUCHAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCHAL_RIGIDITY TBK1 UNC93B1 SCN1A PRRT2 TICAM1 IRF3 CACNA1A ATP1A2 TLR3 TRAF3 HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS SQSTM1 ANO5 RYR1 TTN ACTN2 LAMA2 HP_PRODUCTIVE_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRODUCTIVE_COUGH NME8 SPAG1 NPM1 RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 FOXJ1 DNAH5 ZBTB16 TTC25 RSPH4A DNAAF5 RARA CCDC151 NABP1 ARMC4 STAT5B DNAL1 DNAH11 CCDC40 DNAH9 STAT3 HYDIN NUMA1 CCDC114 DNAI2 SCNN1A LRRC56 PRKAR1A FIP1L1 SCNN1G DNAAF1 CCDC103 DNAH1 ZMYND10 PML CFTR CFAP221 CCNO DNAJB13 DNAAF6 MCIDAS SPEF2 BCOR CFAP298 LRRC6 DRC1 SCNN1B OFD1 CCDC39 RSPH3 DNAI1 TBL1XR1 STK36 RSPH9 NEK10 CCDC65 IRF2BP2 DNAAF4 DNAAF2 DNAAF3 HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY EP300 PLD1 CREBBP PIK3CD KNSTRN DDX6 HP_DELIRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELIRIUM DNMT1 FIG4 MT-TE SLC25A13 MMACHC PRDX1 NAGS HP_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOCK SCNN1G SCNN1A SCNN1B NAA10 DAXX ATRX TRDN HP_FLUSHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUSHING SDHD MAOA HNF4A RET TMEM127 SDHA SETD2 MAX ALDH2 SLC25A11 DNMT3A SDHAF2 APC2 FH MDH2 SDHB NF1 HPGD VHL NSD1 ADGRE2 EPAS1 SDHC SCN9A DLST KIF1B HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY HLA-DRA KRT83 KRT81 LRP1 MBTPS2 KRT86 HP_CUTANEOUS_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ABSCESS PSENEN CARMIL2 ELANE IL17RA IL10RB BTK CTSC IL6R CYBC1 IL10RA TGFB1 UBE2A PGM3 MNX1 PSEN1 HP_LEFT_ATRIAL_ENLARGEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ATRIAL_ENLARGEMENT SCN5A TNNI3 TLL1 MYL3 FLNC GYS1 MYPN TNNT2 KIF20A SCN1B HP_INTERSTITIAL_CARDIAC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_CARDIAC_FIBROSIS FLNC TNNI3 MYPN TNNT2 KIF20A HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY RYR1 GYG1 ACTN2 CACNA1S DSP HP_VEGETATIVE_STATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VEGETATIVE_STATE EPM2A PSAP ARSA ABCD1 PLA2G6 ISCA2 NHLRC1 HP_ECCHYMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECCHYMOSIS F2 NPM1 USP8 TET2 CD109 GP1BA TERC ZBTB16 RARA GP1BB NABP1 STAT5B F13B ITGB3 COL5A2 AIP CHST14 STAT3 TBXA2R NUMA1 GGCX COL3A1 F13A1 SBDS P2RY12 PRKAR1A FIP1L1 GBA PML MPL COL1A1 GP6 BCOR CALR PRF1 COL5A1 IFNG ITGA2 ITGA2B TERT JAK2 TBL1XR1 GFI1B IRF2BP2 HP_MACULAR_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_PURPURA F2 TREX1 NPM1 USP8 TET2 CD109 GP1BA TERC ZBTB16 RARA GP1BB NABP1 WIPF1 STAT5B F13B ITGB3 COL5A2 AIP WAS CHST14 STAT3 TBXA2R ETHE1 NUMA1 GGCX COL3A1 GATA1 F13A1 RAB27A SBDS CASP10 FYB1 P2RY12 PRKAR1A SAMD9 FIP1L1 GNA14 GBA OCLN NEU1 PML GP9 MPL COL1A1 GP6 FERMT3 USP18 BCOR CALR PRF1 COL5A1 CLCN7 IFNG ITGA2 ITGA2B ETV6 TERT FCGR2C JAK2 TBL1XR1 APOE PEPD GFI1B IRF2BP2 HOXA11 HP_METAPHYSEAL_STRIATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_STRIATIONS ADA WDR26 AMER1 TONSL PISD MTAP RECQL4 ANAPC1 PORCN HP_ANKLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_WEAKNESS AK9 MUSK MATR3 CHRNA1 BSCL2 AGRN RAPSN LRP4 COL13A1 TTN CHRNE CHRND LDB3 SCN4A CHRNB1 DOK7 HP_ABNORMAL_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_PROLIFERATION ZAP70 JAK3 IL7R RFXAP CD3E PIK3CD CD3D CD247 TGFB1 PGM3 NSMCE3 RFX5 EXTL3 RAG1 RAG2 CD27 IL2RG RAC2 IL2RA RASGRP1 KNSTRN WIPF1 PNP MRTFA RFXANK CTPS1 CIITA HP_ABNORMAL_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_PROLIFERATION RAG1 RAG2 MRTFA TGFB1 CD3E PGM3 NSMCE3 RASGRP1 CTPS1 WIPF1 HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN ZAP70 JAK3 EXTL3 IL7R RAG1 RAG2 CD27 CD3E IL2RG RFXAP PIK3CD RAC2 IL2RA RASGRP1 CD3D KNSTRN PNP RFXANK CD247 RFX5 CIITA HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 JAK3 PIK3CD RAC2 IL2RA KNSTRN HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS IL7R RFXAP PIK3CD MAGT1 IVNS1ABP RASGRP1 OTULIN MYC ATM LCK CASP10 EPG5 PGM3 ATP6AP2 NSMCE3 FAS RFX5 EXTL3 LEP PRKCD IL2RG LEPR KNSTRN BLM RFXANK ITK FASLG CIITA HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS ZAP70 EXTL3 CD3G IL7R FAS PRKCD RASGRP1 WIPF1 BLM CASP10 CD8A IL2RG PGM3 NSMCE3 FASLG HP_ABNORMAL_CD4_CD8_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CD4_CD8_RATIO ZAP70 WDR1 RFXAP MAGT1 IL2RA RASGRP1 CASP8 RFXANK AP3B1 PGM3 CTPS1 RFX5 CIITA HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION RAG1 RAG2 PGM3 NSMCE3 CTPS1 HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE ZAP70 PIK3CD WAS MAGT1 CD247 CASP8 RASGRP1 PRKCD CASP10 PGM3 NSMCE3 FAS PMM2 CARMIL2 RAG1 RAG2 COG6 LRBA RAC2 CD70 IL2RA KNSTRN ADA SLC35C1 CARD11 CTPS1 FASLG HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY CLCA4 ZAP70 CR2 CD28 CD3E IFIH1 UMPS CASP8 POMP RNF113A CXCR4 IL6R IL2RG TONSL CD19 DCTN4 TBX1 JAK3 CD79A SETX RMRP DGCR6 GBA HLA-DRB1 CAVIN1 SFTPA2 ICOS MS4A1 CTLA4 TTC37 EXTL3 SPINK5 RAG2 FAS COG6 CARD9 TCF3 NCKAP1L PIK3R1 CCND1 MTOR MUC5B UFD1 RASGRP1 DCLRE1C WIPF1 LRRC8A SLC35C1 VPS33A RAB27A IL21 RAG1 ZBTB24 PIK3CD RIPK1 PRF1 PGM3 PSTPIP1 SEC24C TFRC GTF2E2 TNFSF12 PSMB8 SP110 OTULIN CD3D CD81 IRF2BP2 CD55 DOCK8 TGFB1 ESS2 MS4A2 SLC25A13 RREB1 DNMT3B NFKB1 CD79B NHEJ1 PRKCD CNBP BACH2 XIAP HIRA STAT3 GATA3 IGHM FLNA KRT18 NLRC4 GPC3 SLC7A7 IL7R PMM2 EPG5 DGCR8 IRAK4 IVNS1ABP ATP6AP1 NFKB2 STXBP2 PLA2G7 MYD88 CASP10 GP1BB NSMCE3 LIG4 RFX5 POU2AF1 BTK SON IKBKB HELLS CD70 TCN2 PNP CFTR SKIV2L CTPS1 STAT5B CIITA FASLG KLHDC8B NLRP1 TNFSF15 CCBE1 MPLKIP KRAS IL4R PSMB9 IGLL1 KRT1 ALB SMARCAL1 ADAM17 RAC2 MVK JMJD1C CDCA7 BLM MRTFA LMNA RNF168 MST1 IL12A ITCH MTHFD1 RFXAP TNFRSF13C MAGT1 NBN ADAMTS3 VPS45 ATM ERCC3 PIGT IL2RB RFXANK LEP CARMIL2 SPIB COMT KRT8 MYSM1 STX1A TP53 MMEL1 ERCC2 IKBKG GPC4 ADA BLNK NRAS IL6ST ELANE B2M PSMB4 SLC39A4 CDSN AK2 ZEB2 MOGS CD247 SLC46A1 HYOU1 AP3B1 COL1A1 SLC5A6 ATP6AP2 TNFRSF11A TNFRSF1B LRBA SH2D1A IL2RA WAS IKZF1 PEPD TARS1 CISD2 IGKC DGCR2 GPR35 IL12RB1 UNG GTF2H5 MAN2B1 TNFRSF13B FOXP3 UNC13D COL7A1 PTEN ARVCF ALG12 RNU4ATAC CD27 KRT9 FAT4 LAT AICDA ADA2 CD40LG TERT TYK2 BCL10 CARD11 CD40 TRNT1 RTEL1 IRF5 TNPO3 LAMTOR2 MSN TIMM8A SCARB2 STING1 SH3KBP1 PLVAP LEPR KNSTRN IFNGR1 CSNK2A1 SAMD9L PLCG2 SFTPC TCF4 NFE2L2 RBM8A ITK HP_ABNORMAL_CHROMOSOME_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHROMOSOME_MORPHOLOGY RTEL1 PARN TERT MDM4 ZCCHC8 HP_ABNORMAL_NASAL_MUCUS_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MUCUS_SECRETION SDHD SREBF1 CCDC114 LRRC56 DNAH1 SCN9A HP_INCREASED_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_MASS_INDEX THRA CORIN THOC2 STOX1 FLT1 HP_ABNORMAL_SPEECH_PROSODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPEECH_PROSODY MT-ND4 MT-ND6 GRIN2A MT-TW MT-TL1 GIGYF2 MT-ATP6 EIF4G1 FOXP2 MAPT MT-ND1 MT-ND2 SNCA VPS35 FBXO7 SRPX2 MT-ND3 DNAJC13 LRRK2 MT-TV MT-TK GBA MT-ND5 CWF19L1 HP_MONOTONIC_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOTONIC_SPEECH GBA VPS35 FBXO7 GIGYF2 SNCA DNAJC13 LRRK2 EIF4G1 CWF19L1 HP_PREGNANCY_EXPOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREGNANCY_EXPOSURE NECTIN1 SERPINC1 TP63 MME IRF6 MSX1 HP_EROSION_OF_ORAL_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EROSION_OF_ORAL_MUCOSA LAMC2 COL7A1 LAMA3 LAMB3 MMP1 HP_SOFT_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_NEOPLASM STAT6 NAB2 APC COL4A5 NOTCH3 PDGFRB COL4A6 HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING DCPS CLIP2 NDUFA4 NODAL TRAK1 WDR62 NDUFA13 PAK3 CDKN1A WFS1 TMEM240 PPARGC1A DLL1 GCSH ATRX PMS2 BCS1L VCP SLC1A2 KRAS C12orf4 PAH DISP1 THOC2 EPM2A MAPT TOMM40 TREM2 KANSL1 GABRG2 DNMT1 MAGEL2 HDAC8 ARSA GRN ATXN2 FMR1 SPART GSN B4GALNT1 SIX3 ADH1C ACTL6A MECP2 MSH6 NDUFA12 WHRN VPS13A USH2A EP300 MSTO1 CEP85L PDHA1 BPTF EPCAM CUX2 GABRA1 ABCB4 SLC6A19 MLH3 TBL2 MT-ND5 GABRA2 PDE10A DEAF1 WASHC4 SLC45A1 GP1BB WDR11 ADGRV1 CSF1R PSEN1 MT-ND6 SLC6A4 CARS1 POLG2 PSEN2 FBXO31 LIMK1 PTCH1 SARS1 AKT1 FIG4 SLC25A11 KCTD17 GAS1 MT-TL1 FOXG1 CLN6 NFASC CACNA1A GABRD TANC2 CCNF PANK2 FMO3 ATP13A2 NDUFA9 PON2 YY1 GALC ZC3H14 YWHAG SMC3 DPH1 NSUN2 TARDBP ABCA7 NOVA2 RRM2B IGF1R AIP TYROBP HSPG2 NR4A2 KMT2E COMT KCNB1 RLIM PDZD7 TSC2 FA2H TBC1D7 CLCN4 MT-TF PCDH15 C9orf72 MED25 GNA11 AARS1 CRKL GRIN2D TDGF1 HLA-DQB1 NTNG2 GLA NDUFAF6 PRKAR1B DNAJC6 UBE3A MAN1B1 PQBP1 IRF6 TACO1 EDC3 ATP2A2 PRNP SCN1B TOR1A ESPN TACR3 NONO IL1RAPL1 ATXN8OS NDUFV2 NUS1 NR3C1 HMBS XK DCTN1 NF2 COL7A1 FGF8 ST3GAL3 PLA2G6 SLC19A3 NSD1 TAF1 KCNJ2 ACSL4 SDHC PSMD12 RSRC1 GLI2 RUNX1 DLST CDON FGF14 ELN COQ5 MT-TW COQ2 GABRA5 FGFR1 ZIC2 HNRNPA1 WAC PRKN STXBP1 ATP1A3 AMACR SQSTM1 BMPR1A SHH WDFY3 FBXW11 TMCO1 KIF1B SCN9A TET3 SMPD1 CPOX NTRK2 FTL TP63 MBOAT7 CASR VPS35 MYT1L EPAS1 CLIP1 UFD1 MAPK1 DDC TRMT1 ACTL6B GABRB2 GLUD2 NDST1 GNAS MED23 DLAT FAN1 SETD1B ASH1L MED13 SDHAF2 GTF2IRD1 EPHA4 SZT2 CRBN TMEM106B PROKR2 DRD2 SRSF2 RFC2 SNCA AFG3L2 GABRB3 PTS AFF2 HARS1 MT-TS2 GATAD2B PDCD1 SYNJ1 TWNK PRKCG DYRK1A C19orf12 BCR CDKN1B USP8 ASXL1 PINK1 DDX6 SRPX2 STX1B POLG GCH1 KNL1 PDGFB NEK1 PSAT1 HCN1 CDK19 FOXP1 NAGS PON3 SLC39A4 CDH2 IDUA KCNT1 SDHA SETD2 METTL23 EIF4G1 NEFH GDAP2 SCN2A PURA DAO LIPT1 PDGFRB PGK1 KDM5B GLDC CBL CNKSR2 JMJD1C FOXH1 TLK2 ZMIZ1 ADSL COASY SMO SDHD PHIP USH1G VAPB CC2D1A PODXL HSD17B10 RET NDP HLA-DRB1 STX16 CDKN2C EIF2B4 SARDH ATP10A ARID2 SVBP CEP78 LARP7 SLC6A1 NHLRC1 MTFMT HTRA2 CHRNA7 MT-TQ NIPBL CACNA1G SNRPN XPR1 SPAST SOX5 GLE1 RAI1 MLH1 ADAT3 COX15 SLC2A1 AARS2 DMPK AIMP1 PIK3CA SLC13A5 PHGDH STAG2 MDH2 TBP ATXN10 MT-TN SDHB ARVCF CIZ1 PRKAR1A AP2M1 FLI1 CYFIP2 PSAP TSC1 TRAPPC9 LMNB1 FLT4 CFAP410 HTT APP NFIX BAZ1B SMC1A ATP8B1 SCN1A TBK1 SGCE PON1 EEF1A2 VHL TGIF1 GNRH1 JPH3 NDUFS4 OCA2 SEMA4A SLC18A2 PARK7 TRAPPC4 KISS1 ANG SATB2 SLC25A4 DHDDS IQSEC1 ARV1 VPS13C PPP2R2B UCHL1 TBX1 SMARCE1 SLC6A17 KMT2A HNRNPH2 FUS MT-ND1 MLXIPL NTNG1 PRKACA NECAP1 DGUOK OCRL SEC24C MYO7A PTPN22 PET100 GTF2I SCN8A FRRS1L MT-CO1 MEN1 CRADD SLC20A2 NKX2-1 SMARCB1 ADCY5 ARMC5 CHD2 CHMP2B DOCK3 PCDH19 HTR2A OPTN EIF2B2 UBQLN2 CREBBP EIF2B3 CYP27A1 SPECC1L GRIK2 TCF20 SCN3A KCNA2 NFIB PER3 CIB2 DNAJC5 IQSEC2 NOTCH3 HIVEP2 LRRK2 UBTF PROK2 FUZ NDUFV1 GBA MBD5 TRAF7 SURF1 SPRY4 USP7 STUB1 SLC2A3 ECHS1 DNMT3A FOXRED1 SETD1A EHMT1 KPTN MT-TL2 PER2 KISS1R CDKN2B MT-CO3 PGAP1 NECTIN1 TREX1 ABCB11 SUFU TAC3 MED12 FGF17 DNA2 CISD2 LMAN2L GNRHR TK2 SPG21 MAX MAPK10 NDUFS7 PPT1 GABBR2 SLC9A6 UBA5 MAN2B1 NDUFS2 ERBB4 GALT NDUFAF2 CDKL5 MMP1 NDUFAF5 TECR ANOS1 NTRK1 MT-ND4 ATP7B SNCAIP PDE11A DNM1 RAD21 CLTC PIGC TCF4 NDUFA2 PPOX GLI3 EIF2B1 CTSF NR1H4 MTPAP DUSP6 PHF21A UNC13A SOD1 DNAJC13 FLII CHCHD10 GLT8D1 KIF15 NDUFA10 CLRN1 MAOA NSMF AMT FH RREB1 TBCK SETD5 TET2 GRIN2A PRSS12 HIRA BAP1 PFN1 CDH23 PRRT2 FMN2 JRK GPR101 USH1C RIMS2 MED12L SYNGAP1 ALDH5A1 ATP6V1A BCL11B PPM1D ELP1 CHD7 NF1 NDUFS8 MT-TH NDUFS1 TAF15 CEP152 MSH2 VANGL1 MST1 TERT MIR17HG FGF12 TGFBR2 GM2A HNMT RNF125 CACNA1H TMEM127 DALRD3 B3GALNT2 NDUFS3 PRPH LAS1L TUSC3 APC2 PPP3CA EIF2B5 TNIK EZR AP3B2 TTC19 CBS MATR3 LINS1 ANXA11 GPR35 CLN3 PTCHD1 SLC35C1 CHD8 HS6ST1 RNF168 PMS1 MSX1 WWOX ADNP CACNA1B RPS6KA3 BCORL1 GIGYF2 RPS20 PARS2 SORL1 LEPR AP2S1 TP53 ARSG RORA MT-CO2 HP_LOW_SELF_ESTEEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SELF_ESTEEM NECTIN1 GABRB3 CACNA1H JRK TP63 IRF6 GABRG2 MSX1 GABRA1 SLC2A1 HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS GABRD MEN1 CDKN2C SCN1A STXBP1 CDKN1B CDKN1A GABRG2 CDKN2B HCN1 PCDH19 STX1B SCN1B GABRA1 ODC1 SCN2A SCN9A ADGRV1 HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY CLIP2 SURF1 LMNA TNNT2 PCSK9 AIP NKX2-5 RSPRY1 FBN2 MAP3K7 ALDH18A1 ABCG5 CHST3 LZTR1 COL5A2 POLG TBX20 DNMT3A MYPN SKI TPM1 ACTC1 MAPK1 MLXIPL COL1A2 CCR1 VPS33A SMAD4 MYH6 LDLRAP1 FBN1 STAT4 ANKRD11 NDUFAF3 PIK3R2 ABCG8 BGN IL23R IL10 FAS FBLN5 GTF2IRD1 PLD1 GLA GTF2I COL1A1 DSE CTCF PKD1 RFC2 GATA6 HEPHL1 CRELD1 SMAD3 NOTCH1 ZMPSTE24 SGO1 ZNF148 MTX2 RPS6KA3 PPP1CB APOB AGA NKAP GNPTAB CLIC2 MAN2B1 PRDM16 IDUA TBL2 ERAP1 TLR4 COX7B ADAMTS10 AKT3 FLNC XYLT1 TNNI3 GPR101 SOX5 NDUFB11 LTBP2 NDUFB8 G6PC3 FHL1 HADHB ELN UBAC2 NF1 RPL5 LDLR XYLT2 HAAO MCTP2 PDSS1 DCHS1 NOTCH2 TGFB3 BAZ1B TLL1 LIMK1 MEFV B3GALT6 HLA-B KLRC4 GATA4 KIF20A CITED2 DTNA IL12A GJA1 ALPK3 UBE2A NDUFS2 CBL RAF1 NR2F2 ABCC6 ADAMTSL2 DZIP1 LOX HADHA HCCS IL12A-AS1 COL5A1 IRX5 C4A CRYAB FLNA GBA SCO2 CCND2 HP_ABNORMAL_CIRCULATING_T4_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_T4_LEVEL NDN MAGEL2 SNRPN TSHR OCA2 TRHR ALMS1 HP_ABNORMAL_THYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_HORMONE_LEVEL DUOX2 THRB NDN THRA USP9X MAGEL2 SNRPN IRS4 TSHR OCA2 TG MADD TBL1X TRHR ALMS1 HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY ZAP70 LAMC2 LAMA3 COL17A1 LAMB3 PLEC HP_CARDIAC_CONDUCTION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_CONDUCTION_ABNORMALITY TRPM4 MT-ND4 SCN1B RRM2B SURF1 GJA1 SCN5A POMT2 CALM3 NKX2-5 LMNA TMEM43 KCND3 RMRP TTR TBX5 SDHD GPD1L PEX7 SCN2B TBX20 BTNL2 SELENON MYBPC3 MMP2 ACTC1 ACTA1 SEMA3A TTN MT-ND1 CTNNA3 MYH6 MT-TF GPC4 CITED2 CACNB2 NDUFAF3 ACADVL SCN10A MT-CO3 ATP6V1A AKAP9 GLA CREBBP MT-ND2 GJA5 MT-TQ GPX4 MYH7 EMD MT-CO1 CDH2 GATA6 KCNE3 DES FHL1 HCN4 RNASEH1 KCNJ8 SGO1 EP300 MT-ATP8 CACNA1S PRKAG2 MT-TV MT-TS2 CACNA1C MYOZ2 BRAF PPP1CB PTPN11 BANF1 GPC3 SLC25A20 MT-TL1 PLEC MMP14 MT-ND5 DMPK MT-TW ACTN2 GABRA3 CPT2 ABCC9 SCN3B PKP2 SCN4B NDUFB8 CACNA1D GNB5 SDHAF1 MT-ND6 GNAI2 SDHA ATP6V1E1 AGXT TLL1 GYG1 TNNC1 MTM1 MT-ATP6 SYNE2 HLA-DRB1 KCNJ18 LDB3 TNNI3K NDUFS2 KCNQ1 MT-TH SLMAP KCNJ5 DYSF RAF1 BVES PHYH JUP SDHB SCNN1A MT-ND3 RANGRF PIGU GATA4 KCNJ2 CACNA2D1 MT-CYB SYNE1 KCNE5 KCNH2 MT-TK MT-CO2 SCO2 HP_ABNORMAL_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_QT_INTERVAL TRPM4 KCNQ1 CDKN1B TRDN CDKN1A SCN5A GMPPB KCNA5 CALM3 GABRA3 NOS1AP CACNA1C TECRL CDC73 CAV3 ALG10B CAVIN1 AKAP9 MECP2 KCNE2 CALM2 CALM1 SCN4B SNTA1 STX16 CLCNKB CDKN2C KCNJ2 KCNJ5 GNAS DNAJC19 HADH CACNB2 GPC4 KCNE1 ACADVL SLC12A3 CDKN2B PSMD12 KCNJ18 ALPK3 TNNI3K KCNH2 MEN1 TANGO2 ANK2 CACNA2D1 CACNA1S SCN10A BPTF SRY PHOX2B GPC3 SVIL HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY TGFBR1 DAXX TGFBR2 ATRX B3GLCT HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY FLNA CLIP2 MYH11 GJA5 RAC1 PACS1 MAT2A FBN2 IFT122 TGFBR2 MYOCD PRKG1 TTC37 SMAD6 SMC3 BCOR MMP2 HNRNPK FOXF1 ACTA2 MLXIPL KANSL1 FDFT1 TAF2 RPL26 RAI1 SMAD4 GJA8 TGFBR1 TNXB ZNF462 B3GAT3 GTF2IRD1 GATA5 GTF2I ZEB2 CREBBP SMAD3 FOXE3 RFC2 KIF3B ELN CRELD1 NOTCH1 TGFB3 SGO1 EP300 FBN1 MYLK SRY TBL2 MMP14 PPP2R5D NKX2-5 ARHGAP31 ROBO4 SLC25A24 NXN CCNQ MAP3K7 NOTCH3 ABCC9 SKIV2L ACTB MCTP2 MYH7 TAB2 BAZ1B LIMK1 MFAP5 BBS2 B3GALT6 EDNRA LOX PUF60 GATA4 CHST3 TGFB2 NAA10 CBL SNIP1 NR2F2 WAC GATA6 NADSYN1 YY1AP1 HP_ABNORMAL_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PR_INTERVAL PRKAG2 TLL1 TRPM4 CLCNKB GPD1L DMPK SLC12A3 GNB5 KCNA5 SCN2B CACNA1S MT-CYB GABRA3 KCNJ18 NKX2-5 GAA HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION TSC1 AIPL1 APC MIR140 RHO GUCY2D PDE6G CRX C8orf37 RDH5 SLC25A15 CNGA1 COL4A1 OCA2 ROM1 MITF SLC45A2 POU3F4 TYR PRPH2 GUCA1A IFNG BLOC1S6 LRAT RBP3 GGCX RLBP1 EPG5 SOX10 MTTP EFEMP1 CLRN1 CAPN5 TSC2 MUTYH PAX3 CACNA1F ARL6 PRPF8 GPR143 KIF7 MC1R EDNRB HP_GEOGRAPHIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GEOGRAPHIC_ATROPHY HMCN1 IMPDH1 CFHR3 APOE CFHR1 HP_IMPAIRED_TANDEM_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TANDEM_GAIT FBXW11 SVBP COQ5 DOCK3 DDX6 MED13 RLIM NTNG1 TCF20 C12orf65 BPTF ACTL6A TANC2 KMT2E MYT1L WDFY3 SLC35C1 PSMD12 TRMT1 ZMIZ1 ACTL6B TRAPPC4 PLOD1 FMR1 BCORL1 HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY CLIP2 COX6B1 SURF1 LMNA TNNT2 DLL4 PCSK9 AIP NKX2-5 RSPRY1 FBN2 NCAPG2 MAP3K7 ALDH18A1 ABCG5 CHST3 LZTR1 COL5A2 POLG TBX20 DNMT3A MYPN SKI TPM1 MYSM1 ACTC1 MAPK1 MLXIPL COL1A2 CCR1 VPS33A SMAD4 RAD21 MYH6 LDLRAP1 CITED2 FBN1 STAT4 ANKRD11 NDUFAF3 PIK3R2 ABCG8 BGN IL23R IL10 FAS FBLN5 GTF2IRD1 PLD1 GLA RPS19 GTF2I ARL6 COL1A1 DSE TAB2 CTCF PKD1 SCN5A RFC2 WDR37 GATA6 HEPHL1 CRELD1 SMAD3 NOTCH1 ZMPSTE24 MYCN SGO1 ZNF148 MTX2 RPS6KA3 PPP1CB APOB AGA NKAP NONO GNPTAB CLIC2 MAN2B1 PRDM16 IDUA DVL3 TBL2 ERAP1 TLR4 NRXN1 COX7B ADAMTS10 AKT3 FLNC XYLT1 TNNI3 GPR101 NEK1 SLC25A24 SOX5 NDUFB11 LTBP2 NDUFB8 SDHD DAXX G6PC3 FHL1 HADHB PRKAR1A ELN UBAC2 ATP6V1E1 CDH2 NF1 RPL5 LDLR XYLT2 HAAO MCTP2 MYH7 PDSS1 DCHS1 NOTCH2 TGFB3 BAZ1B TLL1 LIMK1 MEFV B3GALT6 HLA-B CNTNAP2 KLRC4 GATA4 KIF20A DTNA IL12A GJA1 ALPK3 UBE2A NDUFS2 CBL ATRX RAF1 NR2F2 ABCC6 ADAMTSL2 DZIP1 LOX HADHA HCCS IL12A-AS1 COL5A1 IRX5 C4A CRYAB FLNA CSGALNACT1 GBA SCO2 CCND2 HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY DVL3 COX6B1 FBN1 NRXN1 TNNT2 DLL4 COX7B NKX2-5 FLNC TNNI3 TBX20 NEK1 SLC25A24 NCAPG2 NDUFB11 CHST3 SDHD DNMT3A DAXX MYPN MYSM1 HADHB PRKAR1A ACTC1 ATP6V1E1 VPS33A CDH2 RAD21 MYH6 MYH7 CITED2 TLL1 CNTNAP2 KIF20A PLD1 RPS19 ARL6 ALPK3 TAB2 ATRX COL1A2 ADAMTSL2 SCN5A HADHA HCCS WDR37 GATA6 HEPHL1 GATA4 MYCN FLNA MTX2 CSGALNACT1 NONO CLIC2 HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY CLIP2 MYH11 BUB1B MAT2A PCSK9 GNPTAB TGFBR2 ARFGEF2 PRKG1 ABCG5 TTC37 BCOR SH2B1 CHST3 ALDH18A1 IFIH1 ELN SMAD6 CCDC22 LMNA SLC2A10 ANKS6 ACTA2 FGFR1 MLXIPL COL1A2 CCR1 LDLRAP1 EHMT1 SMAD4 BUB1 STAT4 GJA1 NPHP3 CRKL ABCG8 BUB3 B4GALT7 IL23R ARF1 IL10 FAS GTF2IRD1 GATA5 GTF2I ZEB2 YY1AP1 CREBBP SMAD3 DDX58 FBN1 TAB2 FBLN5 SCN1B FOXE3 GNPTG MAPK1 WT1 RFC2 TMTC3 HCN4 CRELD1 NOTCH1 SLC35A1 ZMPSTE24 TGFB3 C12orf57 RRAS2 EP300 CEP57 D2HGDH FOXF1 NEDD4L APOB MYLK CLIC2 DYRK1A MAN2B1 BCR IDUA TBL2 AMER1 PCGF2 NKX2-5 ERAP1 TLR4 ERMARD VWF ADAMTS10 ARHGAP31 WASHC5 ROBO4 GLB1 LTBP2 FLNA FLI1 UBAC2 ATP6V1E1 LDLR HAAO KRAS SKIV2L ACTB PDSS1 ESCO2 NOTCH2 NEK8 BAZ1B LIMK1 MFAP5 MEFV TGFBR1 HLA-B LOX NR2F2 KLRC4 PUF60 GATA4 TRIP13 IL12A EBP CBL CCNQ SNIP1 ADAMTSL2 CYP24A1 TGFB2 GATA6 IL12A-AS1 C4A MAP1B EFEMP2 DPH1 HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY CLIP2 BUB1B PCSK9 DSG1 FBN2 KDM6A ARFGEF2 MAP3K7 PRKG1 ABCG5 BCOR TTC37 MGP MUC5B SKI PARN CCDC22 NOTCH2 ACTC1 ELN FGFR1 MLXIPL COL1A2 RAD21 KANSL1 STAT4 NPHP3 GDF1 PIK3R2 IL23R PLD1 GATA5 RPS19 GTF2I YY1AP1 SMAD3 DSE FBLN5 PKD1 GNPTG WT1 WDR37 SLC35A1 COL1A1 SGO1 EP300 SFTPC FOXF1 AGA BPTF FBN1 MYLK B3GLCT TBL2 IGFBP7 NKX2-5 GPC3 VWF TERC ROBO4 GLB1 MYH11 SDHD DAXX HADHB UBAC2 CREBBP NF1 XYLT2 HAAO BRAF SHOC2 SKIV2L ACTB HRAS NEK8 LIMK1 WASHC5 TRAF7 MFAP5 CNTNAP2 NR2F2 GATA4 LTBP2 KIF20A DTNA IL12A GJA1 ALPK3 PTPN11 INVS UBE2A NDUFS2 CBL SNIP1 ADAMTSL2 CYP24A1 DZIP1 TGFB2 LOX DNAL1 COL5A1 DCHS1 C4A ENPP1 CRYAB EBP TERT DVL3 EFEMP2 DPH1 NOTCH1 CCND2 SFTPA1 LMNA TNNT2 MAT2A AIP MAP2K1 GNPTAB NCAPG2 PRDM5 TBX20 DNMT3A ALDH18A1 MYPN IFIH1 ANKS6 CCR1 EHMT1 CITED2 NDUFAF3 CRKL ABCG8 BUB3 PSMD12 RTEL1 GLA WNT4 ARL6 ZEB2 DDX58 SOS1 CTCF RPL27 RAB23 RIT1 MAPK1 POLR3A CRELD1 C12orf57 PPP1CB D2HGDH MYCN NONO IDUA AMER1 ERAP1 AKT3 FLNC XYLT1 TNNI3 ARHGAP31 SLC25A24 NDUFB11 FLNA NDUFB8 FHL1 PRKAR1A MAN2B1 ATP6V1E1 LDLR TGFB3 TLL1 MEFV TGFBR1 B3GALT6 HLA-B TRIP13 STRA6 NRAS GATA6 RAF1 CCNQ WAC HCCS FBXW11 CSGALNACT1 RNF135 KRAS SURF1 TGFBR2 SH2B1 COL5A2 POLG ACTA2 VPS33A SMAD4 MYH6 BUB1 ANKRD11 ADK B4GALT7 ARF1 ATP11A IL10 FAS GTF2IRD1 SFTPA2 ABCA3 TAB2 SCN1B SCN5A ACAD8 RFC2 TMTC3 TBCK HEPHL1 RRAS2 ZNF148 SEMA3E RPS6KA3 MAP2K2 NKAP DYRK1A PRDM16 BCR NRXN1 MRAS ADAMTS10 GPC4 GPR101 SOX5 CHD7 CDH2 RPL5 MCTP2 MYH7 ESCO2 BMP2 TBX2 ZNF469 ATRX HADHA IL12A-AS1 DPP9 ZIC3 IRX5 MAP1B COX6B1 DLL4 RSPRY1 STN1 CHST3 LZTR1 NEK9 TPM1 MYSM1 SMAD6 SMC3 SLC2A10 LDLRAP1 DSP SARDH ADA SLC29A3 BGN SOS2 FOXE3 HCN4 ZMPSTE24 CEP57 MTX2 NEDD4L APOB CLIC2 PCGF2 TLR4 COX7B ERMARD CDC42 NEK1 KAT6A G6PC3 FLI1 FLT4 PDSS1 BAZ1B KLRC4 PUF60 FAM13A ABCC6 FKTN FAT4 GBA SCO2 HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY CLIP2 SFTPA1 KRAS NRXN1 SURF1 DSG1 MAP2K1 KDM6A NOTCH1 STN1 TTC37 BCOR CHST3 LZTR1 PRDM5 MGP NEK9 MUC5B ELN HRAS PARN SMC3 CCDC22 NOTCH2 RAF1 FOXF1 ANKS6 MLXIPL RAD21 NF1 DSP KANSL1 SARDH BRAF ADA EFEMP2 NDUFAF3 SLC29A3 GDF1 ADK B4GALT7 ATP11A ZEB2 SOS2 GTF2IRD1 PSMD12 RTEL1 WNT4 GTF2I SFTPA2 CREBBP SOS1 MAP2K2 ABCA3 FBN1 TAB2 RPL27 RAB23 RIT1 ACAD8 RFC2 TBCK POLR3A SMAD3 COL1A1 GATA4 SGO1 B3GLCT PPP1CB EP300 SFTPC SEMA3E PTPN11 BPTF GNPTAB TBL2 IGFBP7 GPC3 MRAS TERC ADAMTS10 GPC4 ARHGAP31 WASHC5 CDC42 GATA6 KAT6A LTBP2 NDUFB8 CHD7 G6PC3 MAP3K7 FBLN5 FLT4 SHOC2 BMP2 NEK8 BAZ1B LIMK1 TRAF7 CNTNAP2 ALDH18A1 STRA6 NRAS TBX2 INVS ZNF469 NDUFS2 COL1A2 FAM13A WAC CYP24A1 DPP9 DNAL1 DCHS1 ZIC3 FKTN ENPP1 FBXW11 FAT4 TERT RNF135 SCO2 HP_ABNORMAL_HEART_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_SOUND TLL1 ABCG8 TMEM260 NKX2-5 BMPR2 PCSK9 GATA4 GJA1 CITED2 GATA5 GNPTAB TBX20 MYH7 NR2F2 ABCG5 SDHD GATA6 RBBP8 SMAD6 CRELD1 PRKAR1A ACTC1 IDS MYH6 LDLRAP1 LDLR GAA APOB FBN1 NOTCH1 DDX6 HP_SYSTOLIC_HEART_MURMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYSTOLIC_HEART_MURMUR TLL1 TBX20 GATA6 TMEM260 GATA4 GJA1 ACTC1 NKX2-5 CITED2 MYH6 HP_OPPORTUNISTIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPPORTUNISTIC_INFECTION ZAP70 JAK3 MBL2 ELANE IL2RG PTPRC DCLRE1C PNP RAG1 TGFB1 ADA IKBKG RAG2 IL7R HP_SEVERE_VIRAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_VIRAL_INFECTION PGM3 CD27 RAC2 MAGT1 TLR7 CD70 SH2D1A IL2RA BLM XIAP TGFB1 IKBKG CTPS1 HP_COMPENSATORY_HEAD_POSTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPENSATORY_HEAD_POSTURE SAG GNAT1 GPR179 TUBB3 CABP4 GRM6 GRK1 NYX CACNA2D4 CACNA1F RHO TRPM1 SLC24A1 GNB3 KIF21A PDE6B LRIT3 HP_CLINICAL_COURSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINICAL_COURSE CLIP2 PDHX WDR62 GPHN SCN9A MCOLN1 SYNE1 STT3A IL6R AIFM1 COCH GGCX KIF5A RORC GYG1 PMS2 ACOX1 CFI ATP13A2 MAPT M1AP PEX6 VCP NEUROD1 AKT1 BEAN1 PRF1 TOP3A ATXN2 GBA2 XRCC1 UBA1 NSDHL ABAT B4GALNT1 CTSD ANTXR2 ADH1C RNU4ATAC ARX LAMA3 HPDL NEFH GARS1 TCF7L2 PIGP GFI1B MYORG ABCB7 MLH3 EPG5 NCF2 SEC61A1 PEX5 PRX TWNK PEX26 DNAJB2 ACTB NLGN4X LCK GLB1 MTO1 CHAT ADNP LIPT1 TXN2 GPD2 IKBKB COL6A3 CPLX1 ERCC5 CHST6 GATC FLT4 NUP93 KANK1 AVPR2 TTI2 POMT1 NEK8 PAX4 CLPB FLG RNF13 FRMD7 HRAS TRPC3 GRM7 MBTPS2 SLC30A8 DYSF MAST1 MTFMT GCK NARS2 NOTCH3 LARS2 NADSYN1 HNF1A TBXT TMEM70 CFL2 TACO1 NEB RTEL1 COL6A1 GFPT1 STAT2 CHRNE CCDC88C HMGCL GRIN1 PIEZO2 MAGT1 KCNC3 VPS45 IGF1R SELENON NHLRC1 HSPG2 MVK MOCS1 CBLIF SMPX TUBB3 ANKH TRPV4 CHMP1A MPZ DCTN1 PANK2 GJB2 MARS2 POLG POMC C9orf72 C12orf65 MYH7 GPT2 NRAS MRPS16 MCM3AP FHL1 RETN EIF2AK3 HDAC6 PEX10 GCH1 PTH1R MUC1 SLURP1 DLAT COL13A1 ABCD1 IL36RN NLRP3 SCNN1A B4GAT1 TARS2 MPC1 NEFL ITPR1 L2HGDH DONSON STARD7 C12orf57 TNFRSF11A SLC34A3 PIGK PEPD MPV17 TRAK1 KCNMA1 PGAP2 TRAPPC9 KCNT1 LRP12 TRIP11 LIPA PNPLA2 TAF1 MME EDC3 SCARB2 SCN3A ASNS FIG4 DDX3X NBAS CAV3 OPHN1 CIB2 GEMIN4 BLNK PRMT7 IREB2 RPS29 MTAP CIT CD164 KCNQ2 DCHS1 SDHA DPAGT1 TBCK IMPDH1 HEPACAM KIDINS220 ASXL2 F13A1 FRAS1 APOE SELENOI NDUFA4 SLC12A3 RRM2B VPS33B NUTM2B-AS1 PGAP3 DNAAF4 VPS37A KCNB1 KCNJ11 DOCK7 MKS1 SCN2A CP TNNT1 DDC POMK TUBGCP6 DIAPH1 SLC25A12 MEFV GLUD2 TUBB6 RAG1 NUP107 TRIOBP CYP11B1 TBC1D24 ITGB4 FAN1 CPT1C ZNF462 HIBCH TTC25 HK1 GTF2IRD1 RPL35A LDB3 NKX6-2 PC ADAM22 NLGN3 ALG2 CD3D DNM2 ESCO2 UBR1 SLC34A2 SNCA SLC25A19 JPH1 HYDIN ATP6AP2 NALCN NDUFB8 OPA1 PRKCG FBXO38 GPC3 HNRNPU ERCC2 PNPLA6 CFHR5 PINK1 CRPPA LMNA COL6A2 PRKDC ZMIZ1 FAM126A TCTN2 CYP11B2 APC2 DSP STAT3 CNOT1 DCX ABCD4 FARS2 LMAN2L PLA2G6 ERGIC1 HSPB3 ASAH1 SARS2 WT1 ADAT3 SNRPN CYP26B1 DHX30 RNF170 KRT83 CYBB KCNT2 CD59 PTRH2 DEAF1 GRIP1 SGCB GOSR2 TLK2 CRTAP ITGA7 UQCC2 COASY MFN2 ATP5F1A SPRY2 SLC7A7 ETFA PPP2CA BCS1L OGDH SPART ASCL1 SYNE2 GDAP1 MAP3K20 CHKB QARS1 DARS2 FAT2 EIF2B4 SLC25A4 PLEKHG5 PRKCSH COLQ FGFR3 NEUROD2 SPG11 ASPM IGHMBP2 PLAA ATRX ACTL6B TPM3 ZNF687 CLPX PRICKLE1 DNAJC6 PMP22 XPR1 SPAST SIK1 VMA21 CD79B RYR1 COPB2 KCND3 MTX2 KIF1B PEX2 AARS2 PRKACB PHOX2B MFSD2A TBP ISCU ACOX2 FECH PRKAR1A COL4A5 FLI1 IBA57 COX8A PLG HJV APTX LMNB1 HPCA ADA2 TOR1A VAMP1 QRSL1 GREB1L FBXO7 METTL23 MYH9 BRF1 SGCE SLC12A5 TACSTD2 MTOR LAMB1 PUS3 PAX2 OCRL COL2A1 RMND1 CDH23 TET2 PTPN1 MYLK RUBCN NPC1 FKRP PIGU KLHL7 SLC18A2 DGKE PCLO ATP2B3 ARFGEF2 STAMBP NDUFB10 CCNO KIF1C PCK1 PPARG SMPD4 ERLIN1 ARL13B ELOVL4 COX6A2 IL2RG SCYL2 KIAA1109 ADAR PDGFRB AP1S2 NDUFS7 AP5Z1 FCSK NCKAP1L NDUFA13 ABCC8 YEATS2 TNPO3 KRT5 CYP2R1 SPG7 OTULIN RPS19 MPDU1 ATXN3 HAX1 PLCE1 SLC4A11 AFG3L2 RETREG1 UBQLN2 KIF3B TUBGCP4 SLC35A1 LIMS2 SLC17A5 MRPS7 SPR COQ2 SLC20A2 TNNI3 NKX2-1 KCNC1 ALAS2 CLCN5 QDPR NPHS1 SDHAF2 MAG PSAT1 CEP55 EIF2AK4 TNRC6A NUP85 FTL CHRND PSAP DYNC1I2 EIF2B2 CFAP58 GPAA1 PLD3 CDON KRT86 SHMT2 SLC5A7 COL7A1 NLRP1 IL6 TPP1 HERC2 BRAF PSPH CUX2 AFF4 COL4A3 TTN DNAJC5 ERCC1 NARS1 KIF5C NOL3 NFIX DNAL1 PEX3 MYPN DDHD1 RPS28 GATA1 COQ7 HNF1B CLCNKA COQ8B SNAP25 CEP135 GLA TSHR MED17 RFT1 STUB1 GNPTAB CHD1 ABCB11 LMNB2 EPAS1 FXN MRPS14 MRPS2 TMEM94 NDUFAF1 PDE10A SMC1A POLR3A ARL2 SETD1A AAAS POGLUT1 C1QBP GPC4 STXBP1 SMPD1 ELANE MTMR14 TRIP4 SLC1A4 FZD4 CPT2 NOP56 POLG2 HOXB1 PLEC XRCC2 GATM NFKBIA TTR AASS AP1S1 HABP2 PCDH19 BCL11A GJC2 CHCHD10 KATNIP WASHC5 YARS2 REPS1 GBA SUOX HSD17B4 YIF1B TSC1 PRNP MLC1 TMEM260 TMEM231 NCF1 CXCR4 LTC4S TYMP IDH3A IL1RN HTRA2 DIABLO CACNA1G GPD1 CCND2 BCKDHB MACF1 NAGLU KCTD17 DNAH8 NR3C2 PUF60 SLC19A3 FKTN SLC9A1 DBT NTRK1 PLK4 TNFRSF4 MID2 SCNN1B CNTN1 S1PR2 NBEAL2 EXOSC9 ACTG2 MED25 KMT2B SQSTM1 SEC63 TYR HNRNPDL SMAD9 CTSF FLNB SCN4A REV3L TIMMDC1 GMPPB COG6 NUP133 RFC1 UFSP2 SI SLC6A5 CYB5A NDUFS2 MARCHF6 MECP2 AMT TJP2 MEGF10 MARS1 PDGFB IGF1 ARMC9 SCO2 CACNA1A MOCS2 USP18 MAGEL2 PNPLA8 SMCHD1 CRB1 KCNH1 COL9A2 CST3 BCL11B EEF1A2 UBAP1 PDYN KRT12 ATL1 COX5A SCN10A ARG1 ARHGEF10 ATN1 SLC6A3 ASCC1 PNKP PRKACA F13B ATG5 BSND F5 NLRP12 ATP7A TRAPPC12 CRAT NDUFAF3 ISCA1 TUBGCP2 GLE1 BRAT1 NUP88 CASP10 CERS1 SAR1B DVL1 CA12 GAD1 AKR1D1 TFG CFB BSCL2 MTNR1B GRID2 RAG2 WARS1 INF2 AIMP2 STX11 SPTBN2 REEP2 MSH2 CRLF1 SAMD9 VLDLR CTDP1 FLNA LCA5 PKHD1 COL4A4 GRM1 EP300 CYP7B1 PDE6D TGFBR2 SRD5A3 COL9A1 ZNF142 PRPS1 ATPAF2 NXN ATP11C SLC39A14 RNASEH2C PEX19 DARS1 PYROXD1 VPS35L GJB1 JAG1 GALNS CDK5 ALS2 ZFYVE26 SLC2A2 UROS NDE1 CLCN1 SLC39A4 MFF NGF LMBRD1 SLC44A4 EIF2B5 SLC25A38 MYO1E SMN1 EPO PDX1 VPS13A DEGS1 KY MYOT UQCC3 NDUFS1 HSPD1 NUP214 NDUFV1 PTCHD1 SLC52A2 KLF1 UCHL1 PLCG2 ATAD3A NUP37 AP4M1 HUWE1 CYP3A4 ARHGDIA SDHD PMS1 SREBF1 ATXN8OS TUBB TBX19 AGK WDR4 DOLK GRIN2D MAPK8IP1 MCM2 TTBK2 PTEN LRSAM1 FMR1 MTPAP LIPC ITGA6 HEXA STT3B DLG4 IRS4 TMX2 EGR2 PTF1A SNORD118 PEX16 MYO5B WAC KMT2E ACADSB IGF2BP2 CAD STING1 DMD PEX1 CACNA2D2 ZC4H2 CWF19L1 NIPA1 DPM2 OFD1 PYGM MESP2 MYH14 ITK LYST EXT2 TUFM ACER3 GUCY2D TMEM240 CHD3 HESX1 DHPS TNFRSF11B GCSH SETX SCN5A LYRM7 NADK2 HLA-DRB1 CCDC115 KRAS BICD2 APP CCDC22 ACP5 RTN2 AKT2 CALCRL NEDD4L MRPS22 NF2 PAK1 NPC2 NDUFB11 FAM20C FRMPD4 ROBO1 MYL1 ANO5 WFS1 SBF1 PMPCB PCDH15 MRM2 SLC26A2 LMOD1 ERCC4 ITGA8 MSH6 RPS26 TMEM43 PDXK NLRC4 SURF1 CC2D1A EPCAM PSEN2 SPTAN1 ASS1 TBL2 CHAMP1 TSPYL1 ATP8B1 CLCF1 GLS MN1 RFWD3 MRE11 CSF1R POLE MUSK RUSC2 PDK3 MAP2K1 RAPSN SCN1A FN1 UVSSA PSEN1 POMGNT1 TREX1 HINT1 DOK7 BICC1 LIMK1 KITLG GDF5 PMVK IGLL1 ATP6V1B2 CLN6 GSN CFH KRT14 LBR SPECC1L SGCA GBE1 SIL1 CTNS RET COX10 PIGG KIFBP TARDBP PCDH12 EPRS1 SLC46A1 POMT2 NCAPG2 GNE NR4A2 GLUL PIGA CEP78 CARD14 CARMIL2 CEP104 PMP2 FUT8 MADD ACADS MAPKBP1 VPS13C KATNB1 AUH DAB1 HLA-DQB1 LAMA2 HPGD RSPH3 PQBP1 FERMT3 TMEM67 EXOSC3 LARGE1 AQP2 YWHAG SLC16A2 FLVCR1 SYNJ1 BIN1 CHRNA1 ALDH18A1 AMMECR1 KLC2 MMAA GABRB1 TRIM36 NUS1 KDELR2 LGI4 SLC25A24 DNA2 RNASEH2A PLEKHG2 RAPGEF2 MMACHC NDUFAF4 ARV1 DES SDHC HCFC1 WDR81 CTNNB1 LACC1 VDR FGF14 ELN ENO3 DYNC1H1 PRKRA TRNT1 CD247 AIMP1 TNFRSF13C PCNA F2 CLDN14 ATP1A3 LRP4 EMG1 MAP11 CLDN16 STIM1 TSEN2 ERCC8 TRAPPC6B NFE2L2 PRKN POLA1 SEC31A ACTA1 PEX11B CLN8 NDUFS4 CPOX ATP6V0A4 LRRK2 DNAJB11 JAK3 ACO2 CAVIN1 RPSA CSPP1 KIF1A VPS53 COA5 FOXF1 IL21 DNM1L FARSA PIK3CA AAGAB AR ADK PIP5K1C SLC33A1 ASH1L ETFB ATAD1 PTPRQ EMD CAV1 RFC2 WDR45B NR1H4 MRPS25 GATAD2B SIGMAR1 COQ6 RBCK1 LAMB2 NDUFA10 C19orf12 SOX18 IRS2 GPR161 ALG14 LIPT2 PARN ALG9 ERCC6 SPG21 SLC2A1 GLRB AGTPBP1 CYLD NAGA PNP PET100 IDUA PLP1 KCNJ10 SNAP29 FLNC TRPA1 BOLA3 POLR3B GDAP2 PNKD SUCLG1 MYH11 MNS1 GLDC MRPL44 CDCA7 HSD3B7 ATP1A1 VAC14 ADSL CLCNKB DNAAF5 PHIP GALNT3 BAG3 TBL1X EARS2 SERPINE1 SLC35A2 ENPP1 PIK3R5 ACTN4 SLC2A10 KCNK3 COX6A1 TERT MIPEP TSEN54 P4HTM MMAB EBP MCIDAS TMTC3 MIEF2 ADSS1 MOGS DNAAF3 ATP8A2 HYOU1 SMARCE1 CD8A SOST CDK10 LRP5 BCKDHA CAPN3 HCN4 MATR3 ROBO3 SLC39A8 PMPCA MLH1 ERLIN2 TEAD1 TBR1 NPHS2 CENPF CENPJ WDR11 CHRNA4 PLXND1 TRAPPC2L GLI3 DRD3 SDHB TSEN15 IER3IP1 CLIC5 RINT1 HERC1 KLHL40 SYT1 TOE1 DOCK2 EPM2A PABPN1 BAZ1B ZMPSTE24 TBK1 PDE8B CRB2 NGLY1 TH TRIT1 GRN COA7 HSPB1 HBG2 RANBP2 ZBTB24 GNAS GIPC1 SPEG DCPS TIA1 TK2 TSC2 DPM1 RBM8A DDX41 ABHD12 NEXMIF TGFBR1 FARSB LHX4 MED13L NDUFAF2 TELO2 COL1A1 NDRG1 LITAF VARS2 SCN8A NDUFA12 PYCR2 SCNN1G COL25A1 TCF3 UPB1 PSMB8 ISCA2 SYT14 GTPBP2 GTF2I FXR1 CCT5 COX4I2 DNMT1 MTR SMARCD2 GAN SACS TBCE PDE4D CREB3L1 PRUNE1 CRYAB SLC1A2 ADGRG1 ADCY5 COG2 ARMC5 GNB1 STXBP2 OSMR PET117 GFM1 MBOAT7 PEX13 ADGRV1 CHRNB1 HELLS EPS8 WDR26 HIKESHI EIF2B3 ADD3 ASL MORC2 INPP5K AIRE IRF2BPL MICOS13 MTHFR ARHGEF9 UBA5 INTU TMPRSS3 HMGA1 GRIK2 HSD17B10 IARS1 YME1L1 HIVEP2 AMACR VSX1 NEMF DRD5 PEX14 PRDM8 SBF2 STIL FMN2 ELOVL5 PIGB PI4KA CNTNAP1 GABRG2 GPRASP2 NAXD MYO7A DOCK8 VWA3B WDR73 HNF4A KPTN CD96 XPC ITPA SSR4 ETFDH FGD4 PTS ACTG1 ARL6 TGM6 VRK1 OSTM1 SLC5A6 RASGRP2 PDP1 SNX14 POT1 DSTYK SMO IRS1 AARS1 DLL3 SFTPB COX20 TNFAIP3 SGCG SLC12A2 PIGY NDUFAF8 PPT1 CDKL5 SLC25A26 SLC9A6 TFAM GJB3 PARK7 RDX DAG1 EXT1 GRHL2 RNASET2 ZAP70 CARD11 SLC12A6 BCORL1 FREM2 SLC35D1 TRAC TENM4 KRT81 PDHA1 AP4E1 SNCAIP PIGT LRPPRC PDE11A PEX12 TSFM ORAI1 PHKG2 KCNA1 CD3E RPS6KA3 NEUROG3 MFSD8 EIF2B1 C2CD3 LRTOMT ALG11 MYO5A NDUFB9 LAMB3 ABCA3 MYMK NAA10 PPP1R3A PIK3R1 CTC1 NAXE ASXL1 RAB27A VIM SGPL1 SAMD12 MRPS34 FOXRED1 GLRA1 HYLS1 CACNB4 TRIM32 PLCB3 COL1A2 SLC52A3 ZSWIM6 NDUFV2 AP4B1 ATP5MD UMOD ABCB4 ABCD3 PKD2 TERC RNASEH1 TRMT10C MGME1 GSC OXCT1 IGHM SEPSECS IFT140 KCNA2 NUP160 SLC10A2 SNRPB SPTBN4 PIGN KDM5B JAM3 DPH1 PUM1 COL11A1 GNB4 CORO1A ZNF335 NDUFA2 ALDH5A1 MMP2 CHUK FAT4 CA8 ELP2 TUBB4A ABCA4 TRPM6 ELP1 EEF2 CNP NDUFAF6 DCDC2 SASH1 TGFB1 ROR1 TPM2 PHGDH FA2H KCTD7 SMN2 VAMP2 ALG1 ERBB4 SMOC1 TUBA8 DNAJB6 PRDX1 LDHA ALPL GFAP BBS9 DMXL2 LAMC2 CYBA WNK1 KCNQ4 GABRB3 SUFU SLC6A8 EMC1 HDAC4 MECR PREPL MYSM1 DDHD2 CCDC103 FADD EXOC8 EED DDOST FZD6 ALG13 PIGO BRPF1 CDSN DGUOK DZIP1L SLC6A9 AP3B1 COA8 SUCLA2 GJA1 EIF4G1 ILDR1 TRMT1 VPS13D RERE MMP1 CLP1 GSX2 FRG1 CUBN GNS CLCN7 MTRR MMADHC SH3BP2 AP4S1 MPDZ VPS33A ROR2 ATXN1 RHOA RARS2 BCL10 HNMT KBTBD13 TGM3 TASP1 GP6 FOXP1 TOR1AIP1 VARS1 BMPR1B PROKR2 DPM3 BTNL2 EBF3 TIMM8A SVIL HP_ABNORMAL_ORAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_PHYSIOLOGY NOD2 NPM1 ATP6AP2 ALS2 PAK3 MAT1A FBLN1 FOXG1 AP4M1 ZBTB16 STRADA PPARGC1A ATRX DMD SLC9A6 GDI1 STAT5B EXTL3 ATP7B UNC13A SOD1 STAT3 GRIN1 CHCHD10 GLT8D1 SCN9A KIF15 POLR3A KANSL1 GABRG2 MAGEL2 B2M SCNN1A MECP2 ARHGEF6 PTPN22 ZEB2 FOXP2 RPS6KA3 EPHA4 PML CAV1 GSN AP4E1 PYGM CLDN10 BCOR SRSF2 C9orf72 SERPINE1 PRPS1 GFM2 TET2 GRIN2A TP63 PTS TBL1XR1 TANGO2 PFN1 DLG3 POU3F3 F13B FGF10 PDE10A QDPR NRXN1 ASXL1 SRPX2 PCDH19 RARA UPF3B NEK1 DEAF1 GABBR2 SETD5 OPTN F10 SIM1 USP9X TH UBQLN2 IQSEC2 PON3 TARDBP ADSS1 SHMT2 NECTIN1 IRF6 CNTNAP2 SCNN1G POLR3B FIG4 NEFH CCR6 C12orf65 MED12 SCN2A ACSL4 TAF15 DAO SATB2 CCNF FGFR3 SCNN1B CBL CERT1 HPDL TUBB3 PON2 ATP1A3 DLK1 VAC14 IKZF1 KIF23 LBR VAPB FGFR2 SPART EIF2S3 TUBB2B ZNF81 NABP1 PMP22 F8 GPT2 IDS SYP F13A1 CHRM3 ATP10A TREM2 MID2 PRKAR1A PRPH NTNG2 GCH1 AGTR2 ZNF711 CFTR DLAT UBE3A ZC4H2 AP4S1 HERC1 SELENBP1 MEG3 SNRPN CNKSR2 TBK1 SCN1A VPS13A SLC16A2 GLE1 RTL1 MATR3 FUS AP4B1 COLQ SCN1B ANXA11 F5 CLCN4 ALG13 PPP2R5D GNS PCGF2 SLC12A2 ZNF41 CHMP2B MSX1 PTCHD1 PLA2G6 SERPING1 TSPAN7 RAB39B F2 SLC9A7 LAMB2 FRMPD4 NUMA1 ADNP ADGRG1 ATXN2 USP27X ARX CFAP410 CXorf56 RUNX1 HLA-B ERBB4 HLA-DRB1 IRF5 STXBP1 FIP1L1 WAS GNAI3 BCORL1 TASP1 EDARADD SLC12A5 CCN2 PON1 GABRA1 LAMA2 HNRNPA1 PI4KA FOXP1 IL1RAPL1 DCTN1 FTSJ1 VCP OCA2 SQSTM1 HCFC1 IRF2BP2 FARS2 ANG ZBTB11 MRE11 HP_ABNORMAL_WAIST_TO_HIP_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_WAIST_TO_HIP_RATIO LIPC NEUROD1 POMC KCNJ11 SLC2A2 RETN IRS2 IL6 UCP3 SDC3 PPARG ADRB2 SLC30A8 WFS1 MTNR1B CARTPT ENPP1 NR0B2 GHRL HMGA1 GCK IGF2BP2 GPD2 ADRB3 PPP1R3A PTPN1 PDX1 ABCC8 AGRP AKT2 HNF1B TCF7L2 IRS1 HNF1A MAPK8IP1 HNF4A PAX4 HP_ABNORMAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_REFLEX RHO CLIP2 NDUFA4 WDR62 FKRP SCN9A MCOLN1 ERCC3 AP4M1 AIFM1 QRICH1 MAG SHANK3 KIF5A BRCA1 PEX12 ATXN7 ACOX1 SLC1A2 CYFIP2 ATP13A2 PEX6 SAG SOX10 STAT4 DNMT1 VCP MAGEL2 SLC29A3 IL23R ARHGEF6 SEPSECS SPG7 GBA2 XRCC1 HTRA1 ABAT B4GALNT1 NSUN2 MECP2 NDUFA12 HPDL NEFH VPS13A NEB GARS1 MT-TV TANGO2 PIGP B3GALNT2 MYORG MSTO1 ABCB7 PCYT2 GABRA2 AHI1 MAP11 PEX5 DEAF1 PRX TWNK PEX26 ADCY5 DNAJB2 GFM2 XRCC2 TIMM50 DSTYK PMPCA PYCR2 ERCC5 SDHA CARS1 GAA POLG2 HARS1 ASPA VAMP1 DNASE1L3 GRIA3 SIK1 GRM7 PCARE NFASC CHRNE COG7 ATP1A3 MAPT C12orf65 NARS2 PANK2 CFL2 SPTBN2 CARS2 RAD51 YWHAG MARS2 PDYN CCDC88C GRIN2A GRIN1 KIF1C PIEZO2 RRM2B KCNC3 POMK TYROBP HSPG2 PMP22 CACNA1A TRPV4 CHMP1A MPZ REEP1 COL4A1 FANCD2 KCNB1 RLIM RFC1 SOD1 GPT2 MCM3AP RGR FHL1 TECPR2 IMPDH1 PEX10 DHH BSCL2 HK1 DLAT UBE3A AP4S1 BICD2 PEX2 TACO1 CNKSR2 IGHMBP2 NEFL ITPR1 FASTKD2 PSEN1 CACNA1S AP4B1 SLC6A5 BEAN1 NONO MPV17 TARDBP TRAK1 GTF2H5 TICAM1 ERAP1 MYL2 KCNT1 LRP12 ACTA1 PNPLA2 ATXN3 SLC19A3 AGBL5 TAF1 MME POMGNT1 LAMB2 ACSL4 FRMPD4 GJA1 ASNS FIG4 GEMIN4 ZFR MEFV GLRX5 HLA-B LIFR TAF13 COQ5 GABRA5 MYPN DAG1 IREB2 OCRL CIT HNRNPK DPAGT1 TBCK PRKN CA4 ERCC4 MAD2L2 KIDINS220 FTSJ1 HCFC1 NKX6-2 SELENOI MFN2 MRE11 CACNA1G ALS2 PGAP3 VPS37A NTRK2 SNRNP200 DNAJC3 MKS1 SELENON DDC TPM3 SLC25A12 TBC1D24 CPT1C GTF2IRD1 SZT2 LDB3 PC AP4E1 DNM2 PALB2 DARS2 GLYCTK AFG3L2 ST3GAL3 JPH1 SLC25A46 PTS ATP6AP2 CRPPA NALCN OPA1 DST SYNJ1 PRKCG FBXO38 KIF1A PNPLA6 PMM2 DYSF LRAT PINK1 DENND5A MYOT TFG TK2 GCH1 GRN FAM126A TCTN2 TSEN2 ERLIN2 APOB HCN1 CDK19 TAF2 FARS2 BCAT2 PLA2G6 TSEN54 MT-ND6 HSPB3 RNF170 SNCA KCNQ2 KLHL9 CD59 KDM5C LIPT1 IL12A-AS1 PTRH2 KCNK9 TPM2 INPP5K GOSR2 ATN1 ATL3 HSPB8 FXR1 COASY COL12A1 PEX14 ANO10 CHCHD2 SPART SLC25A1 SDHD PODXL GDAP1 NDP GPHN QARS1 PLEKHG5 PRDM8 STUB1 SPG11 VLDLR PLAA HPRT1 POLG PLP1 ANKLE2 ZC4H2 PNPT1 PRICKLE1 KBTBD13 HACD1 PEX3 PIGY SPAST RAI1 KCND3 COLQ SLC52A3 CLCN4 COX15 KIF1B ALG13 REEP6 TBCD PEX16 MFSD2A ERCC2 CA8 PTCHD1 PAX1 PRNP GALC COX8A PSAP APTX COG4 LMNB1 PITX3 STAC3 HRAS POLR3A PIK3R5 FBXO7 PIGO ROM1 FANCL CAPN1 RARS1 CDK5RAP2 RMND1 ARSA RUBCN NDUFS4 SLC18A2 PCLO PARK7 MT-TE SAMD9L ADCY6 AARS1 SLC25A4 DKC1 CWF19L1 ARV1 PIGW VPS13C SQSTM1 ERLIN1 SCYL2 PDGFRB GABRG2 EYS AP1S2 TTPA NDUFS7 TRMT10A CPT1A RPGR GLRB PDE6B FUS TSEN15 MLXIPL LARGE1 ARX MCCC2 SLC33A1 COPB2 PRPS1 GBA ALDH18A1 SCN8A MYH7 RETREG1 AGRN SETX SLC35A1 GNAQ CHRNA1 COQ2 SLC20A2 RYR1 AR NDUFS8 CHMP2B TMEM67 AUTS2 SNX14 MT-ND1 SCN4A ARHGEF2 FTL TBK1 HSPB1 DYNC1I2 PPP1R15B EYA1 UFC1 HINT1 GPAA1 LGI4 CASK SHMT2 SLC5A7 MTM1 TPP1 PEX1 SLC39A14 SCN3A IL12A KCNJ18 SIGMAR1 SPR RNASEH1 ERCC1 NARS1 TRAPPC11 BIN1 DDHD1 FKBP10 CLCNKA CAMTA1 MT-TK CHRNB1 NDUFV1 MAB21L1 SNAP25 GJC2 RPGRIP1L POMT2 MED17 GMPPA RFT1 EIF2S3 KIAA1549 FXN IBA57 SLC2A3 GMPPB COL13A1 AAAS ASPM MT-TL1 MT-TL2 SLC39A8 MTMR14 SLC1A4 AGTR2 NOP56 PGM3 TTR TRAF3 TTC8 CHCHD10 WASHC5 FMR1 NOTCH2NLC ABCA1 ST3GAL5 MT-TW LRP4 ZNF41 TYMP DPM3 SLC9A7 UBA5 NAGLU XPA NDUFS2 TBC1D23 SLC25A21 DOK7 KCNA2 DCC NDUFAF2 PIGG NT5C2 ATP6V1A NDUFAF5 HGSNAT UBE2T ELOVL4 SDHB ACTL6B UGP2 ABCA4 CNTN1 GJB1 EXOSC9 MED25 RAB18 UNC93B1 HNRNPDL GAMT TMEM43 CTSF KCNJ6 EXTL3 FLII PARN ELP1 VPS33A RXYLT1 ZNHIT3 CRYAB FANCB AMT IL10 TERT RPS6KA3 MEGF10 FLRT1 PDGFB GM2A KIZ PLEKHG4 ARSI POMT1 UBAP1 GFPT1 CLTC SNRPN NRXN1 FANCI ATL1 COX5A CRX ASCC1 PNKP PRKRA CLP1 SNAP29 BSND ATP7A POU3F4 TMEM63A CRAT NDUFAF3 PROM1 ISCA1 TUBGCP2 GLE1 LMOD3 BRAT1 EMD NEU1 SAR1B ABHD5 ATXN1 GAD1 C19orf12 SYNE2 MGME1 GRID2 IQSEC2 PGAP1 NDUFS1 WARS1 INF2 OFD1 SCYL1 REEP2 PDE6G AK9 CRB1 CTDP1 CC2D2A CEP63 DNAJC6 SIL1 FGF12 CYP7B1 CNTNAP1 KARS1 TRIM2 UBA1 PRCD RNASEH2C GNAS PEX19 DARS1 PYROXD1 SYP BRIP1 JAG1 EMC1 MID2 CDK5 MDH2 KIF14 ZFYVE26 TULP1 DBH DALRD3 NDUFS3 MFF ZNF711 PPP3CA C9orf72 SMN1 TMEM106B ALG14 DEGS1 KY HSPD1 PRPH2 MATR3 SLC52A2 UCHL1 RAB3GAP1 ARL3 SLC25A19 HUWE1 GUCA1B ATRX TSPAN7 BRCA2 LMNA WWOX PEX7 WDR4 ELN CAV1 USP27X PRPF6 TTBK2 LRSAM1 MTPAP TMX2 EGR2 PTF1A PLCB1 FLNC SPTLC1 RFWD3 ERCC8 IL1RAPL1 DMD USP8 PRSS12 SYNE1 NIPA1 TREM2 B4GAT1 DPM2 MYH14 LYST KDM1A NDUFA13 ACER3 TMEM240 CHRND ADGRG1 GCSH RMRP TINF2 LYRM7 BCS1L GDI1 PAH XPC DDB2 RTN2 IFT140 ALG6 PDHB MYL1 SBF1 FANCM MYF6 C8orf37 ALG3 SYT2 MT-ATP8 PDXK SPEG SURF1 PDHA1 RP1 FDX2 SLC6A19 SPTAN1 TBL2 ALG9 ITGA7 TSPYL1 GABRA3 SLC2A1 ADPRS ZFYVE27 UPF3B GNE CSF1R KCNA4 DYNC1H1 RUSC2 PDK3 UBAC2 OCLN CYP2U1 WDR81 KCNK4 TREX1 NUP62 ADSS1 LIMK1 ZNF513 MSL3 CHAT ALG11 LINS1 NDUFA1 SLC44A1 PAX7 C4A NDUFA9 MT-ATP6 SLC18A3 COX10 MUSK PCDH12 ARL6IP1 NEK2 TTN PGAP2 GLUL PIGA IFT88 CCR1 KATNB1 AUH PEX11B UGDH IFT172 GRIN2D NDUFAF6 LAMA2 SLC46A1 MT-ND2 TUBA8 PQBP1 RTEL1 EXOSC3 PPP2R2B L1CAM SLC16A2 FLVCR1 CENPJ DNM1L ATXN8OS NDUFV2 NUS1 KLC2 XK USH2A DOCK3 ACADM ARHGEF18 FA2H NDUFAF4 FANCC DES HSD17B4 MT-ND5 GJB6 CLPB SRPX2 COQ9 RBP3 TRMU ATP8A2 PHYH TRAPPC6B MORC2 PLPBP SEC31A FKTN SLC7A14 MAT1A RNF113A ERCC6 TOPORS COX4I1 ACO2 SLC25A15 SEMA4A ABCD1 IDH3A SLX4 GABRB2 JPH3 BBS2 FAS ATAD1 OTOG STXBP1 PDE6A RFC2 NRAS MRPS25 PEX13 KCNQ3 KLHL7 PLEC KNL1 SASS6 PRPH SPG21 FLI1 PSAT1 LBR USP9X AP5Z1 VAPB NAGA PET100 STIM1 POLR3B FANCE GDAP2 SUCLG1 GLDC AHR ATP1A1 MAK VAC14 ADSL CLCNKB ABCC8 BAG3 ZNF81 STX16 ENTPD1 COX6A1 OPA3 FBN1 NDE1 STIL DHX38 TOE1 MTFMT METTL5 HTRA2 GAN RLBP1 CNGA1 NR2E3 RAPSN UROC1 DCTN1 TPI1 CNNM2 TARS1 FANCF MARS1 PPP2R5D SLC13A5 CCT5 NEK1 IDH3B ATXN10 MT-TN EP300 IER3IP1 BEST1 PRPF31 TSEN34 HTT MERTK CHP1 PDSS1 BAZ1B MYO9A KLRC4 PDE8B WARS2 EEF1A2 NGLY1 TIMM8A PRPF8 KLHL41 COA7 POMGNT2 OCA2 PLOD1 DHDDS DPM1 GCLC ABHD12 TRIP4 SUCLA2 CEP152 RP2 PRPF4 HIBCH SLC35C1 NDRG1 LITAF MAP3K20 SUMF1 NECAP1 NUBPL NSD1 NRL PSMB8 ISCA2 SMPD1 GTPBP2 GTF2I IFRD1 TGM6 SLC25A22 TDP1 EEF2 PRRT2 DCAF8 ALG2 SACS PRUNE1 ARL2BP MCCC1 CTNNA2 PET117 CLRN1 INPP5E GFM1 EGF MBOAT7 GLRA1 SDHAF1 HADHB HIKESHI COQ8A CYP27A1 CNTNAP2 MPLKIP MCPH1 MICOS13 SEPTIN9 SNIP1 RP9 ATXN2 FSCN2 FUZ SBF2 ARL6 PIGB PAK3 ECHS1 CERKL GRM1 COG5 PHC1 FOXRED1 CACNA1E VWA3B SMG9 GBE1 WDR73 JAM2 FGD4 PKDCC AMPD2 ZEB2 VRK1 OSTM1 TLR3 ACD COX20 SLC12A2 MAN2B1 ASAH1 RPE65 PUS3 CDHR1 CXorf56 TGFB3 SLC12A6 ZNF408 PARS2 PIGT GJB2 DNM1 SEMA6B ORAI1 NDUFA2 KCNA1 PPOX MT-ND4 KIAA0586 CNGB1 NDUFA10 LPIN1 HEXB MRPS34 GTF2E2 TRIM32 SCAPER AMPD1 ZSWIM6 ATP5MD TRMT5 RP1L1 DLG3 SPTBN4 PIGN JAM3 ADAR TRIM37 GNB4 SIM1 DKK1 MT-TT TH RAD51C SYNGAP1 ALDH5A1 ELP2 PIGV PIGL CNP UQCRQ MED12 SCO2 IMPG2 SMN2 HADHA ALG1 TUBB3 CEP135 ACAT1 VANGL1 ATM NCAPD3 WNK1 SPATA7 LRRK2 PRPF3 FBLN5 HDAC4 MECR RDH12 DDHD2 EXOC8 DGUOK CDK6 GFER RAB7A SLC6A9 TUBB2B AP3B2 TTC19 CCDC88A VPS13D TCAP TLR4 IARS2 RAB39B TUB RARS2 HMGCL FAM161A CREBBP CACNA1B TBX4 DHX16 KRAS PI4KA FANCG FANCA MT-ND3 MTTP HP_LYMPHANGIECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIECTASIS FAT4 SOX18 PIEZO1 CCBE1 ADAMTS3 HRAS MPI FOXF1 HP_ABNORMAL_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIBIDO HTT NSMF CDKN1B SPRY4 CDKN1A CDH23 KISS1R CDKN2B HS6ST1 CHD7 ANOS1 PROKR2 WDR11 DUSP6 SLC2A3 AIP MEN1 FGF8 CDKN2C GNRH1 TAC3 FGF17 PROK2 TACR3 KISS1 FGFR1 GNRHR FSHB HP_ABNORMAL_HEART_RATE_VARIABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_RATE_VARIABILITY SHH TDGF1 NODAL GLI2 CDON STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 MADD SIX3 GAS1 PSAP FGFR1 ZIC2 GALC SMC1A HP_BLOODSTREAM_INFECTIOUS_AGENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLOODSTREAM_INFECTIOUS_AGENT PGM3 PRKCD CD27 ELANE TET2 MAGT1 CTPS1 ITK HP_ABNORMAL_LIVER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_PHYSIOLOGY AP1B1 AP1S1 ABCB4 ATP8B1 AKR1D1 SLC25A13 ABCB11 PKHD1 AMACR TJP2 HSD3B7 SC5D TMPRSS6 CYP7B1 ALMS1 ASAH1 HP_RECURRENT_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_JOINT_DISLOCATION DSE COL1A1 PRKACB RYR1 COL1A2 CHST14 COL5A2 HP_ACROMICRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMICRIA MAGEL2 HERC2 NPAP1 MKRN3 SNORD115-1 MEG3 RTL1 NDN SNORD116-1 PWAR1 DLK1 SNRPN PWRN1 HP_ABNORMAL_EYELID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_PHYSIOLOGY ANO3 CLCN1 CPLX1 MAPT MAFB POLR1C TBP HSPG2 FTL FGFR3 TBC1D24 FGFR2 TWIST1 CACNA1A PLA2G6 POLR1D HPCA ATP13A2 PARK7 TUBB4A TAF1 THAP1 STARD7 VPS13A CHN1 SYNJ1 CP ATN1 SCN4A KCTD17 SALL4 DRD5 PANK2 TOR1A AARS1 TCOF1 HP_AGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGYRIA CDK5 TUBG1 FKTN DAG1 CRPPA KIF2A PAFAH1B1 DCX POMK FKRP TUBA1A POMT1 CEP85L LARGE1 POMT2 HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION SLC7A7 SMPD1 CYP7A1 ABCG8 PCSK9 LCAT SYNE2 MSMO1 APOE APOA5 TMEM43 CCT5 TMEM199 GHR SLC25A13 NGLY1 CCDC115 ABCG5 APOB LMNA TTPA LDLR APOA2 FHL1 APOC3 PANK2 MTTP ANGPTL3 SYNE1 ABCA2 LPL LDLRAP1 EPHX2 FDFT1 EMD PPP1R17 SAR1B CEP19 HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION LCAT SLC7A7 ABCA1 SMPD1 PSMB8 GALNT2 APOE APOA5 SLC25A13 APOC3 LMNA ALMS1 LIPC MTTP PPARG APOA1 CETP CEP19 HP_MICROGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGRAPHIA ATXN8OS SNCAIP SNCA ATXN2 VPS13A MAPT TBP PDGFB SLC20A2 FTL GLUD2 PDGFRB NR4A2 ADH1C GBA HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY LYST NOD2 CCDC174 VCP SOST CHRND COL6A1 PEX19 SMARCE1 DMD BRCA1 GDI1 PMP22 BTNL2 EYA1 GMPPB MYH7 STAT4 SMARCB1 CDH23 IL23R ARHGEF6 PEX1 CLCF1 NEB GSN FANCM POMT1 PEX10 AGRN NEFL SYT2 SEMA3E GAN SPEG ANKH CHRNA1 RYR1 CRPPA POLG2 SDHAF2 TRPV4 SCN4A XRCC2 UPF3B GNE SELENON MEN1 SNAP25 CHRNB1 COL6A3 PEX13 SALL4 UBAC2 IQSEC2 IDH2 DOK7 SHMT2 MTM1 AKT1 ANO5 DNASE1L3 SALL1 HLA-DRB1 CLCN7 CHAT IL12A C12orf65 CAPN3 CHRNE NARS2 YME1L1 MYPN SNX10 C4A ACTA1 RAD51 SH3TC2 TPM3 NF2 DMPK GFPT1 SLC18A3 PEX11B SIX1 MUSK VAMP1 POMT2 PEX12 TRAF7 KLHL41 CNTNAP1 TTN PLEC PAK3 COL13A1 LRP5 FANCD2 TUBB3 DCTN1 CCR1 MECP2 ACADS LARGE1 NRAS TWNK PEX6 PTPN11 MTMR14 NLRP3 AGTR2 SQSTM1 HOXB1 PRTN3 CNKSR2 KCNAB2 GJC2 SUFU ERCC4 BIN1 EXT2 MPZ ABCA1 TK2 AMER1 ERAP1 LRP4 ZNF41 LRP12 LMNA TCIRG1 SDHD ASAH1 HLA-DPA1 DNA2 KLHL40 SLC9A7 LAMB2 FRMPD4 FANCC TNFRSF1A TNFRSF11A DES WDR26 SDHC ADGRG1 CTLA4 CXorf56 IDH1 MEFV SLC12A6 HLA-B GABRD SRPX2 UBE2T PTPN22 TPM2 MAD2L2 FTSJ1 HCFC1 DLL4 RERE FKRP SDHB PTDSS1 REV3L ALG2 MYMK ITGB4 POLG PEX5 SLX4 TUBB6 EXT1 CRYAB TNFSF11 FANCB IL10 SLC5A7 TRIM32 FAS RPS6KA3 MEGF10 SLC52A3 OSTM1 ESCO2 PALB2 TGFB1 SMCHD1 MGME1 BAP1 PEX14 DLG3 LMOD3 SPTBN4 SIX5 FANCI COL6A2 ADA2 PDGFB CHD7 DKK1 USP9X PEX26 RAD51C PTRH2 DNM2 SKI GLE1 CHCHD10 FANCE CFL2 MED12 SCO2 ACSL4 IL12A-AS1 DNAJB6 SMO AK9 COL12A1 TERT SLC25A1 CRLF1 BAG3 ZNF81 CHKB UBA1 SLC25A4 RRM2B PYROXD1 SYP BRIP1 MID2 PTEN ADSS1 ZNF711 SUCLA2 ZC4H2 KBTBD13 PRDM16 RAPSN PEX16 ALG14 TFAP2A COLQ KY CLCN4 FANCF ALG13 FRG1 GJA1 SLC52A2 TLR4 PLXND1 DPAGT1 PTCHD1 TSPAN7 RAB39B BRCA2 DACT1 PRNP AIP SLC39A14 PEX3 USP27X ARX FKTN BMS1 MYD88 PABPN1 MTMR2 MYO9A KLRC4 PUF60 HMBS FANCL SGCD HK1 HLA-DPB1 LAMA2 RFWD3 PI4KA FANCG FANCA IL1RAPL1 PIK3CA PEX2 ADCY6 HP_DELAYED_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_WALK DPM3 KDM1A PPP2CA PIEZO2 FBLN1 FOXG1 ARL13B CSNK2B CHD3 TIMM50 DHPS LSS NCAPG2 PIGC ALMS1 MRPS14 TRIM2 DAG1 TMEM94 ASXL3 GRIN1 SMC1A HNRNPK ACTN2 ALS2 FBXO11 MAPK8IP3 NEUROD2 PUS7 CREBBP TNPO3 ATP10A RAI1 POLR2A FUS PAK1 KDM3B NDUFA12 IQSEC1 P4HTM FBXL3 PLP1 DLAT FRMPD4 AMPD2 SLC25A1 BRPF1 LAMA2 TMTC3 SLC12A2 SLC5A7 ZEB2 HECW2 ZSWIM6 ZC4H2 SLC9A7 SNRPN TRRAP MAGEL2 GRIA4 MYO9A FLVCR1 TRMT1 FASTKD2 GARS1 MRPS25 AHDC1 ZNF148 REPS1 ERLIN2 TBR1 MPZ AHI1 WDR4 WASF1 PCYT2 PPP2R5D KDM5B TRAPPC9 GALNT2 NARS1 COL12A1 HUWE1 MBOAT7 CYP3A4 PNPLA2 SETD5 PACS2 INPP5E DOCK3 DYNC1I2 TCF20 ATG5 CNOT3 RUSC2 DYNC1H1 CPLX1 PMPCA PHEX WDR26 ABCA2 SYT1 SPG11 TMEM63A FITM2 BRAT1 CAMK2A BCL11B MTPAP SHMT2 SLC25A42 EP300 PIGG CDK13 HERC2 SPOP DPF2 SET ATP6V1A MSL3 PRMT7 DHX30 SIGMAR1 COG1 HS6ST2 HK1 KMT2E NFASC TRIO ADARB1 NDUFA1 FOXP1 LRRC32 TANGO2 RUBCN ODC1 CWC27 KPTN SLC18A2 SEMA6B STAG2 EBF3 YY1 SMARCD1 RORA UBE3A RAB11B HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY LETM1 TRAF7 CPLX1 FGFRL1 PIK3CA CREBBP KDM1A CTNNB1 PRMT7 NSD2 HAAO EP300 CTBP1 RASA1 MNX1 NELFA HP_USUAL_INTERSTITIAL_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_USUAL_INTERSTITIAL_PNEUMONIA RTEL1 TERT SFTPC MUC5B SFTPA2 HP_ELEVATED_SERUM_ASPARTATE_AMINOTRANSFERASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SERUM_ASPARTATE_AMINOTRANSFERASE SUCLG1 PRKCD SCO1 PEPD PEX16 ASL NSMCE2 SLC2A2 COG8 VPS13A HP_SPASTIC_PARAPARETIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARETIC_GAIT ARL6IP1 SLC39A14 KIF5A KIF1A FARS2 AMPD2 ATP6AP2 FBXO7 SHMT2 HP_ARM_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARM_DYSTONIA ALS2 SIGMAR1 SYNE1 SPG11 FTL DLAT FUS HP_ELEVATED_SERUM_ALANINE_AMINOTRANSFERASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SERUM_ALANINE_AMINOTRANSFERASE SUCLG1 PRKCD SCO1 BCAT2 GAA TKFC PKHD1 NSMCE2 SLC2A2 FADD VPS13A HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL MAN2B1 GALT KRT8 MIR140 TKT OCRL DCXR KRT18 FBP1 GALE KRAS MANBA SNX14 GALK1 SLC25A13 STK11 TTC37 GK NEU1 FUCA1 TP53 RPIA GAA SMAD4 HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL SLC7A7 UROC1 HMGCL ASS1 ATP5F1E HPD CPOX UMPS TIMM50 SLC25A15 HTRA2 MVK ARG1 BCKDHB TMEM70 ATPAF2 ACADM PAH DNAJC19 AGK ALDH5A1 POLG OPA3 ASL AUH CLPB SERAC1 KIF1B HMBS ATP5F1D DBT TAT BCKDHA MICOS13 ATAD3A PCCA PCCB OXCT1 NDUFB10 TAZ RET PPOX HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING LPIN2 FOXP1 SFTPA1 ERAP1 TLR4 BMPR2 ASXL1 CSF2RB TERC EIF2AK4 GBA CASP10 HLA-DRB1 STN1 HLA-DPA1 CSF2RA FAS MUC5B PARN UBAC2 CCR1 BCL10 TERT COL3A1 PDGFRA DSP CTLA4 RAB27A RUNX1 STAT4 MYD88 IRF5 MEFV SMPD1 HLA-B KLRC4 IL23R ATP11A RASGRP1 CCN2 IL10 RTEL1 IL12A CCR6 UBA1 SFTPA2 TSC1 TSC2 CAV1 ABCA3 HLA-DPB1 PTPN22 FAM13A PRTN3 SRSF2 PRKCD IL12A-AS1 DPP9 BACH2 MALT1 TET2 IL2RA IFNGR1 CBL C4A BIRC3 BTNL2 SFTPC APOE SFTPB FASLG ASAH1 HP_DIMINISHED_ABILITY_TO_CONCENTRATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_ABILITY_TO_CONCENTRATE POLG ERF TWNK TBL1X TREX1 HERC2 HP_HETEROPHORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROPHORIA HACE1 TRAPPC11 SCN8A KIDINS220 HOXB1 AFF4 TBX1 HP_HETEROTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTROPIA KDM1A PIGW UNC80 PUF60 PGAP3 TYR RNF113A NEXMIF ADGRG1 ATRX LYRM7 PRPS1 BCOR PHOX2A CYB5A MBD5 KAT8 NALCN HMGB3 MAGEL2 KIF7 COL12A1 SOBP COL11A1 MRPS34 HADHA GTF2E2 VSX1 MEG3 ZEB2 FAM149B1 DLK1 SALL2 ZSWIM6 KIF21A WARS2 SEC23A CPLANE1 BLOC1S3 DPP6 ATOH7 PDE6D SYT2 RRAS2 SLC25A46 AHDC1 CRB1 OFD1 TGFBR2 OVOL2 DNMBP DYRK1A PMM2 ALG9 KIAA0753 MYF5 GALC SOX5 NGLY1 PIGN GLRB TMEM216 KDM6B SNAP25 SON TBX1 OCA2 HERC2 MYOD1 PYCR2 FBN1 PTRH2 PWAR1 SLC5A7 PIGV ADD3 SMAD3 THOC2 PIGL MPLKIP COL8A2 ADAT3 IRF2BPL CHAT CHST3 GRID2 SCO2 AGRN RNASEH1 ATAD3A LAGE3 NPAP1 RERE HPDL CRIPT TUBB3 GBA SNORD116-1 SLC18A3 VAMP1 CYB5R3 USP7 ERCC3 SLC25A1 SOST PGAP2 CHMP1A SLC6A8 GRM1 COL13A1 EMC1 COL4A1 COG8 MKRN3 SNORD115-1 MADD COL6A3 PDE4D NEUROD2 TAF2 NR2F1 EXOC8 TGFBR1 P4HTM RTL1 GNA14 B3GAT3 NTNG2 HOXB1 AHCY RPL10 SLC17A5 PEX5 PIGY UBE3A ERCC2 TMEM67 TARS1 EFNB1 NONO MC1R SLC38A8 CLP1 GTF2H5 APC AMMECR1 PPP2R5D KCNMA1 PHGDH DDOST GALNT2 IARS2 HUWE1 ARHGAP31 CDC42 LGI4 COL6A2 PWRN1 SLC35A2 SREBF1 ADNP COL6A1 NDN TBC1D23 ZEB1 PIGO TENM3 TGFB3 MYO9A CACNA1A BCORL1 SYT1 TRIT1 GRHL2 ACADSB ADARB1 DPAGT1 TMEM231 RRM2B PIGT TCTN3 KIDINS220 ZC4H2 FBXW11 RORA FGFR3 SNRPN HP_ABNORMAL_SPUTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPUTUM NME8 SPAG1 MLX RPGR CFAP300 ENG MAT2A COL5A2 DNAH5 RSPH4A DNAAF5 TGFBR2 SMAD4 CCDC151 PRKG1 HLA-DRB1 BTNL2 CCDC40 HYDIN TSC2 ACTA2 CCR1 CCDC114 STAT4 SCNN1A LRRC56 IL23R CCDC103 IL10 FAS ZMYND10 IL17RC TSC1 CFTR CFAP221 SMAD3 CCNO DNAAF6 SPEF2 FOXE3 PRTN3 CFAP298 LRRC6 ELN MYH11 DRC1 IL12B TGFB3 STK36 RSPH9 F5 NEK10 CCDC65 GDF2 FBN1 MYLK DNAAF4 DNAAF2 RSPH1 GAS2L2 ERAP1 TTC12 GAS8 TLR4 IL17RA TTC25 HLA-DPA1 ARMC4 DNAL1 DNAH11 ACVRL1 DNAH9 IL17F UBAC2 COL3A1 CTLA4 DNAI2 TLL1 HLA-B MFAP5 MEFV TGFBR1 LOX SCNN1G KLRC4 DNASE1L3 DNAAF1 DNAH1 IL12A HLA-DPB1 DNAJB13 PTPN22 MCIDAS CLEC7A TGFB2 IL12A-AS1 SCNN1B COL5A1 FOXJ1 C4A OFD1 CCDC39 RSPH3 DNAI1 TRAF3IP2 DNAAF3 HP_DECREASED_VIGILANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_VIGILANCE SCN1A MEN1 PRRT2 CDKN2C CDKN1B CDKN1A CACNA1A CDKN2B ATP1A2 PLP1 HP_FOCAL_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA TSC1 NPRL2 MTOR COL4A1 TSC2 NPRL3 NUP133 CNTNAP2 DEPDC5 HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II TSC1 MTOR TSC2 NPRL3 DEPDC5 HP_HYPEREOSINOPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREOSINOPHILIA EXTL3 CARD9 SPINK5 NLRP1 TRAC HP_GASTROINTESTINAL_EOSINOPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_EOSINOPHILIA TGFBR1 TGFB2 SMAD3 JAK1 TGFB1 TGFBR2 TGFB3 HP_UNUSUAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION LYST KDM6A CLIP2 CR2 SOX4 CXCR4 IL6R AGA IL12RB1 COL6A1 MAP3K7 SHANK3 BRCA1 CTLA4 TTC37 MGP RAG2 CFI TCF3 IRF8 RTEL1 CCDC22 ACP5 BCL10 CCDC114 KANSL1 CREBBP IDS ZBTB24 STAT4 LIG4 MAGEL2 PIK3CD PRF1 ALOX12B BMP4 ARL3 CTNNB1 RAC1 SNRPN SLC29A3 IL23R SP110 SEPSECS CCDC103 CD3D ARID1A TSC2 DHCR7 TGFB1 FANCM NDE1 RSPH9 JAGN1 ANTXR2 THOC6 KIAA0586 NDN HPSE2 LRRC6 GAS2L2 FUCA1 SYT2 EP300 STAT3 SCNN1G TBL1XR1 PHKA2 BPTF MSX1 CYP4F22 IL7R JAK3 C7 EPG5 TBL2 DGCR8 IRAK4 GAS8 NCF2 SEC61A1 NFKB2 CHAMP1 ITGA7 EGFR PRDM12 LCK RARA EYA4 GLB1 XRCC2 DNAAF6 ADNP DEAF1 POU2AF1 NELFA UBB POLE IL17RA COL6A3 DNAH9 NKX2-1 HERC2 MANBA UBAC2 BICC1 MYO5A LAMC2 GOT2 CFTR SKIV2L GUSB LRRC8A NBN LIMK1 CLPB GRHL3 DNASE1L3 DNAAF1 GRIA3 NHLRC2 SIK1 GRM7 KIF20A IGLL1 CHAT TOP3A CORIN TRPS1 CFH GMNN FMO3 MALT1 DCLRE1C TMEM70 NPAP1 RAC2 SNX10 C4A BLM RAD51 YY1 GALC EFEMP2 DKC1 SNORD116-1 SLC18A3 CIITA VAMP1 TNFRSF13C LBR MAGT1 ENG TNNT2 VPS45 C1QB SLC46A1 CISD2 MVK SPINK5 NABP1 SIN3A WIPF1 GLUL SLC6A19 CARMIL2 TBX20 FANCD2 MYPN MKRN3 SNORD115-1 RYR1 ANAPC1 CCR1 HLA-DRB1 DLG1 MED25 RPL10 PSENEN PRKAR1A GLIS3 CRKL SHROOM4 RAG1 SERAC1 RTL1 SLC3A1 PDHA1 COL13A1 RSPH3 SMARCD1 SCNN1A FERMT3 TNFRSF11A SPEF2 PRTN3 MC2R CRELD1 FLVCR1 CTSC RSPH4A TRAIP ERCC2 RFXANK EHMT1 XIAP PEPD AKT1 DNAAF2 HBB GTF2H5 NSUN2 PKD1 ERAP1 RPL11 MYL2 TTC25 C8B TNNI3 TRIP11 OCA2 PTEN HLA-DPA1 CYBB LEPR TXNRD2 LAMB2 LAT TBX1 FOXC2 FANCC TNFRSF1A AICDA KMT2D STOX1 IL2RG DLK1 GJB6 HLA-B TYK2 BLNK ZEB2 TLL1 RNF113A NECTIN1 MEFV KAT6B ELN CD40 TNPO3 FLNA CD247 FCN3 COG4 NOP10 BRAF SMARCC2 PRPS1 GATA6 MAD2L2 ISG15 KNSTRN CLDN16 CCDC39 CD79A ADA C8A UNC93B1 NCF4 DNAI2 INPPL1 NFE2L2 SDR9C7 POLA1 NME8 CLCA4 SRP54 SBDS DNAAF4 COL2A1 POMP NKX2-5 TERC HOXA13 CD19 DCTN4 DGCR6 CCDC151 FCGR2A CAVIN1 STAT1 CARD9 USP9X TCIRG1 MAPK1 SLX4 IL21 SRCAP CACNA1B POLR2A TNFSF11 CCDC65 PGM3 TMC8 DNAH5 ITCH TNFSF12 FAS GTF2IRD1 CD55 ZMYND10 SCN10A DNAJC21 DOCK8 TSC1 ESS2 ORAI1 IKBKG C1QC NFKB1 RFC2 PALB2 MYD88 BACH2 TRAF3IP2 ITGA3 HYDIN RBCK1 NLRC4 TAP2 DYRK1A BCR KIF1A CYBC1 ORC6 PLEC KCNJ6 IVNS1ABP ARPC1B IFNGR2 COL6A2 WASHC5 TK2 PRKDC SMARCE1 NLRP3 RFX5 TSEN2 DNAH11 TBCE CD3E SON FOXP1 DLX4 RPGR CD70 CYBA INSR TP63 PNP TSEN54 IDUA SCN11A IRF6 TNFSF15 CCBE1 ZAP70 GATA2 EFL1 PSMB9 ADAT3 MBTPS2 TRIO CITED2 NEPRO FANCE TNXB NAA10 PSEN1 DYNC2I2 RIPK1 IL12A-AS1 SCNN1B MNS1 NAGLU COL5A1 TPM2 CDCA7 IKZF1 IFNGR1 DNAAF5 SPAG1 IL12A ADAMTS3 TPP2 SLC25A1 PCYT1A LAMB3 ABCA12 SLC35A2 GINS1 WAS EXTL3 MYSM1 BCOR COL11A2 IL17F PLEKHM1 DZIP1L USB1 C6 P4HTM SOX11 TBC1D24 DRC1 B2M ATRX PSMB4 MCIDAS AGXT PLP1 DNAAF3 HYOU1 CD8A SLC26A2 HACD1 CD79B LRIG2 SH2D1A IL2RA IFNG CD81 SLC39A8 UROC1 COLQ TARS1 UNG FANCF ARMC4 COL4A6 MBL2 TINF2 RSPH1 ELANE PCGF2 TBCD TPM3 ODC1 TBK1 IER3IP1 RNU4ATAC ATM FLI1 PLG NUMA1 FGFR3 IRF9 ADA2 ISL1 TSEN34 DNAJB13 CSPP1 FBLN5 C5 BAZ1B MYO9A MRAP FIP1L1 TF LAMTOR2 KLRC4 FANCL NGLY1 WFS1 LAMA2 MCM4 WDR19 TAP1 TET2 PIGU BIRC3 CLCN7 SAMD9L UMPS IRF2BP2 CLDN19 CCNO PLOD1 UNC119 ICOS GFI1 COL5A2 ATP7A DSG1 LONP1 ARID2 RELB MS4A1 STAT5B SCN9A NCKAP1L ACTA1 IFNAR2 MED13L ACTC1 ZNHIT3 TSEN15 MLXIPL SLC35C1 MAP3K20 OFD1 APRT CFAP298 OCRL TFRC PTPRC PSMB8 PTPN22 SMPD1 GTF2I PML SETBP1 HAX1 SLC25A22 SLC35A1 SMARCD2 EOMES RPS14 NEK10 SLC7A7 STXBP2 NPHS1 IGHM PET117 PRKCD AIRE PSAP DNAL1 SNAP25 FOXN1 HELLS MASP2 A2ML1 ADAM17 PHKG2 WDR26 IL10RA PWAR1 SGSH MPLKIP TLR7 KRAS GATA4 DNAH1 CCDC47 UBE2A PURA MNX1 AGRN NR2F2 GAA NNT ALB SMARCAL1 CTC1 ALMS1 PKD2 CRIPT ARHGAP29 FLT1 ALOXE3 MTHFD1 RFXAP TTC12 GNPTAB DPF2 SMN1 DISC1 LETM1 SPIB IFIH1 RMRP POLR3A SETD1A BCL2 BNC2 MMEL1 TAPBP IL6ST USP8 STIM1 TLR3 MESP2 PSMD12 NFKBIA ATP6AP2 CTCF ERF KATNIP TERT ERCC4 LEP TAZ IGKC DGCR2 DLL3 SRY CSF3R SETD2 RUNX2 SLC2A1 NPM1 NCF1 MAN2B1 DDOST BTK FLNC CDC42 MEG3 ASAH1 ALG12 CD27 TICAM1 SLC7A9 KMT2C DPM2 RALGAPA1 JAK1 CD40LG TBC1D23 NOTCH2 CARD11 IRF5 TNFRSF13B EDARADD TRAC COG1 LAMA3 LRRC56 UBE2T C1R SH3KBP1 KPTN GJB2 UGP2 DNAI1 SMARCB1 EXOSC9 FOXP3 BCHE HSPA9 SLC37A4 STK4 GLI3 CASP8 ZBTB16 SULT2B1 GBA ZNF341 COG6 PIK3R1 BTD RASGRP1 ARID1B AP3D1 KIF15 TGM1 ELP1 VPS33A RAB27A MYH6 CEBPE FANCB MECP2 ACVRL1 GTF2E2 IL10 CFAP410 SLC52A3 TBX6 NSD2 LMNB2 PKHD1 DNMT3B NHEJ1 ITGB2 MGME1 VPS51 STK36 HPS6 DDR2 ECM1 RAB3GAP2 ATP6AP1 CLEC7A FANCI TRIP4 ATN1 MYH3 CORO1A NIPAL4 ATP6V0A2 SIM1 SMARCA4 RAD51C HYAL1 SLC5A7 CTPS1 BCL11B IKBKB GANAB CFB CDH1 SELENON SF3B1 GRHPR WRAP53 NTRK1 FOXJ1 NHP2 C3 MRTFA IL7 ALPL CHRM3 IRF3 CFAP300 ERCC3 STAR IL2RB C1QA NXN CCDC40 HLA-DQB1 CACNA1C STX1A PCNT BRIP1 FADD DDX6 GALNS NRAS IARS1 ALG13 SAMD9 TECPR2 LIPN SLC39A4 IL17RC SLC1A4 CFAP221 AP3B1 WAC SDCCAG8 WDR1 CD3G FBXL4 LRBA PARN CFD TTC7A MDM4 WASF1 TCTN3 EXT1 GNS TLR4 PLCG2 C4B LMBRD1 FCGR3A RNF168 BRCA2 PWRN1 BCL6 ROR2 MIR140 CDH23 CHRNA3 SREBF1 FAT4 G6PC3 AK2 IL21R COL4A5 VANGL1 TASP1 MSN HGSNAT HLA-DPB1 RFWD3 FANCG STING1 FANCA L2HGDH KCTD1 ARSB ITK UBE3B HP_SACCADIC_OSCILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_OSCILLATION VPS13D CLCN7 SLC6A3 KIF1B SLC35A2 TCIRG1 GBA SNX10 TNFSF11 HP_LIMBAL_STEM_CELL_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMBAL_STEM_CELL_DEFICIENCY FGF10 FGFR3 NLRP1 FGFR2 DDR2 HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION CARMIL2 LRBA PIK3CD RAC2 CD247 CARD11 CD70 CTPS1 CASP8 KNSTRN HP_KERATOSIS_PILARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOSIS_PILARIS GJA1 CARD14 KRT16 FLG SHOC2 NLRP1 ODC1 LRP1 SOS2 WNT10A BRAF COL12A1 KDF1 KRT83 MAP2K1 NRAS SOS1 KRT81 MBTPS2 KRT86 HP_JOINT_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SUBLUXATION GALNS IDUA B3GALT6 TNXB ADAMTS2 GLI3 COL1A1 PUF60 RMRP XYLT1 FLNB MADD MMP2 GLB1 COL1A2 EFEMP2 PLOD1 FBLN5 COL2A1 DDR2 HP_APHTHOUS_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APHTHOUS_ULCER SRP54 NOD2 MEFV HLA-B ERAP1 TLR4 KLRC4 IL23R RASGRP1 GFI1 IL10 FAS NLRP3 IL12A CASP10 IL17RC PRKDC ORAI1 IL6 WDR1 NCF4 CARMIL2 PRKCD IL12A-AS1 ELANE UBAC2 C4A DCLRE1C NLRP12 MVK ADA2 CCR1 TCIRG1 STAT4 FASLG HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE CIITA STAT1 LBR IRF3 ENG CXCR4 IL2RG CD19 MVK JAK3 MEFV ICOS WIPF1 SLC6A19 RFXANK CARMIL2 TNFRSF13C CFI CARD9 TCF3 NCKAP1L WAS BCL2 SLC35C1 RFX5 CCR1 HLA-DRB1 IKBKG BLNK STAT4 PRF1 PGM3 TFRC TLR3 ACVRL1 IL23R ATRX PTPN22 IL10 FAS NCF2 MYD88 HYOU1 NDE1 PRTN3 CD79B SH2D1A RAG1 XIAP NLRC4 CR2 CYBC1 ERAP1 TLR4 C4B IGHM BTK FOXP3 C8B TBK1 NLRP3 HLA-DPA1 BCL6 CYBB TNFRSF13B RFXAP CYBA UBAC2 IGLL1 CD40LG CTLA4 NCF1 VANGL1 BCL10 LRRC8A HLA-B CFB KLRC4 DNASE1L3 IL12A HLA-DPB1 PIK3R1 RAG2 L2HGDH IL12A-AS1 TMEM70 C4A CD79A C8A MRTFA NCF4 IL7 HP_UNUSUAL_SKIN_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_SKIN_INFECTION CARMIL2 PGM3 MVK CARD9 NCKAP1L IKBKG HP_MOLLUSCUM_CONTAGIOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLLUSCUM_CONTAGIOSUM CARMIL2 PGM3 MVK NCKAP1L IKBKG HP_SEVERE_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INFECTION PGM3 TMC8 ELANE MAGT1 TLR7 PTPRC CD3D PRKCD CD247 TGFB1 RAG2 CD27 CD3E TET2 RAC2 CD70 SH2D1A IL2RA BLM RAG1 XIAP IKBKG FOXP3 CTPS1 IL7 PRPS1 ITK IL7R HP_SEVERE_VARICELLA_ZOSTER_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_VARICELLA_ZOSTER_INFECTION BLM PGM3 CD27 TGFB1 RAC2 MAGT1 CD70 IL2RA CTPS1 HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL ALB RFXANK RFXAP SERPINE1 PLG RFX5 TF CIITA HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION CLIP2 CYP7A1 PDHX FKRP VCP PCSK9 CTNS GUCY2D IL6R HSD11B2 IDH2 SPATA5 A2M CYP11B2 LIPC HNF1A ENPP1 HNF4A RAF1 PREPL RYR1 PRF1 MT-TK SLC29A3 PIEZO1 ABCC8 KCNA1 MT-TE UBA1 DHCR7 NSDHL KCNJ5 PEX10 NSUN2 ABCC6 NEFH VPS13A CAP2 ABCA1 MT-TV TANGO2 B3GALNT2 MSTO1 CLCN2 ABCB4 SPTB DGCR8 TTN FAM111A SEC61A1 G6PC DEAF1 ZMPSTE24 GSR GP1BB MTO1 IL2RA LIPT1 SLCO1B1 SDHD SLC34A1 MCEE COL6A3 PKLR FTH1 BICC1 LAMC2 SLC22A12 GOT2 GATC MYBPC3 GAA SKIV2L NDUFA1 AVPR2 POLG2 POMT1 CPS1 FHL2 CFTR MET APP HLA-DRB1 UQCRFS1 DYSF NNT UGT1A1 COG7 CYP24A1 PCCB NARS2 ODC1 DCLRE1C TMEM70 CPT2 NEB COL6A1 ANKRD1 STAT2 ACTN2 DPM3 SPINK1 HMGCL SYNE1 PIEZO2 NDUFAF1 POMK TWNK HSPG2 PTPN22 MOCS1 SCNN1A TTC37 TRPV4 NR0B1 CDC73 COL4A1 CFHR1 FGF23 PANK2 GLUD1 POMC SLC30A10 FDFT1 MYH7 PEX7 EPHX1 POLD1 FHL1 SLC9A3R1 RAG1 SERAC1 FLCN RTL1 BSCL2 GLA GCH1 TMPO MUC1 ABCD1 IL36RN PFKM TNFRSF11A B4GAT1 MPC1 L2HGDH GATB CACNA1S BMPR1A SLC34A3 CETP CD247 PRKCSH IL12RB1 LTBP4 STX16 SLC25A20 TICAM1 PKD1 PGAP2 MYL2 CSF2RB TCAP FBP1 LRP12 ACTA1 COL7A1 LIPA PNPLA2 B4GALT1 NSD1 KCNJ2 POMGNT1 KCNJ11 TBX1 HNRNPA2B1 MDH1 STOX1 CHCHD10 NBAS CAV3 PPP1R17 PRKAR1A GLRX5 TNPO3 ACTC1 MYPN DAG1 MCFD2 OCRL DPAGT1 LPL STEAP3 SCN4A GCK SLC12A3 MT-TP VPS33B TMEM127 SMCHD1 UQCRC2 MKS1 LDB3 HBB GALM CARD9 CASR NDUFS6 UFD1 TCIRG1 CP TPM3 NUP107 CYP11B1 ITGB4 TBX19 TDP2 SDHAF2 HK1 GTF2IRD1 PC COQ2 ALG2 ABCC2 ESS2 PYGM PDE4D DMP1 ACAD8 UBR1 SDHA GLYCTK ITGA3 RAG2 FRG1 GMPPB CYP27B1 CRPPA SEMA3E PEX14 MCCC2 PCBD1 HAVCR2 XDH ANKRD55 LIPE PMM2 THBD CDKN1B HADHB MYOT LMNA COL6A2 VDR NLRP3 RFX5 APOB HPD TMEM126B FOXP1 NDUFAF6 INSR ABCD4 BCAT2 MPV17 EPHX2 PLA2G6 MT-ND6 PTPN2 SARS2 TNFSF15 SETD2 PDX1 UMOD MYO5A CAVIN1 NSMCE2 SLC22A5 KLHL9 GCM2 ALDOB LCAT SGCB TPM2 INPP5K JMJD1C GOSR2 NDUFV2 NPHS1 ITGA7 TNNC1 ATP5F1A AFP LRP6 SLC7A7 ETFA BCS1L SGCD ADAMTS3 CYP19A1 SYNE2 LAMB3 ITPR3 HPRT1 RET CHKB CYP17A1 SLC16A1 CDKN2C KLHL3 PLA2G4A DZIP1L NDUFS1 MMUT CD46 NDUFS8 POLG PSMB4 CUL3 SLC5A1 GALK1 SGCG CCBE1 KBTBD13 HACD1 VMA21 GDNF RAI1 MTX2 ALPL PEX2 WNK4 AP1S1 NDUFB9 DMPK TBCD PHGDH COL12A1 UCP2 SLC4A1 ISCU NDUFS7 EFL1 GATA1 SLC26A3 ACOX2 FECH FTL COX8A APOA5 HJV APTX COG4 ADA2 PPARG QRSL1 PIK3R5 ATP8B1 MRAP DNAJC19 PRODH EBP MPO ACAT2 BVES NPC1 GCDH CA5A IFNGR1 NDUFB10 PHEX MC4R SLC25A4 CASK STAT4 PCK1 COX6A2 DSG1 ABCG5 KCNJ1 SNTA1 CPT1A VHL NDUFA13 MT-TF MLXIPL LARGE1 HFE CFI PRPS1 CYP2R1 CDH23 PEX1 CDKN1C OTULIN CACNA1D PLCE1 MAGI2 MT-ND2 LIMS2 SLC17A5 SPR AR ALAS2 CLCN5 SLC25A13 QDPR IGF1 MT-ND1 GATAD1 TRAPPC11 NDUFAF2 PRSS1 AIFM1 G6PD PEX13 PHKG2 HINT1 REN DHCR24 TRIO NLRP1 MT-TL1 NDUFAF3 SLC39A14 KCNJ18 UBE2A MEFV ACSF3 HLCS SCO1 BIN1 ALMS1 NDUFA6 COQ7 CLCNKA DMGDH DSG2 COQ8B FLT1 POMT2 RFXAP PHKA2 DNMT3B SDHB C3 PGK1 GNPTAB CASQ1 ABCB11 SLC2A3 SPIB PNLIP KL AIP VIPAS39 POLR3A KLF11 ALG8 USB1 DYRK1B MMEL1 POGLUT1 C1QBP MPZ MT-TL2 SLC39A8 SMPD1 MYC SQSTM1 PLEC TAT AHCY TRAF3 AASS IRF6 WNK1 CNNM2 NUBPL APOA1 BTD HNRNPA1 DGCR2 SLCO1B3 SLC2A1 ATP6V1A TMEM260 MT-TW LTC4S SLC12A1 BTK IL1RN GPD1 MEG3 OSGEP ALG12 BCKDHB FTCD SPTA1 PKHD1 TRNT1 FBN1 DPM2 KCNN4 COL9A3 CTLA4 NR3C2 PIK3C2A IRF5 FKTN NOS3 FAM111B DBT CCN6 ATP6V1E1 INPPL1 SCNN1B EHHADH PLA2G7 SETX TCF4 BLK MEF2A PDP1 UNC93B1 TMEM165 SLC37A4 PADI4 HNRNPDL TMEM43 CACNA1C HNF1B CPOX TRIM32 COG6 CCND1 APOA2 FLII SBDS TET2 ELP1 VPS33A PYGL RXYLT1 CRYAB STAT6 ACADVL AMT RHAG GPIHBP1 RREB1 MOCS2 COL4A3 IL2RB MEN1 CNBP NAGS CYP27A1 PNPLA8 HIRA CALM1 LAMA4 DGAT1 PLIN1 GFPT1 MYH6 TRIP4 ABCC9 COX5A ARG1 CAMKMT SLC2A9 TBK1 CLCNKB BSND PEX26 NLRP12 ISCA1 LMOD3 EMD SRP54 SAR1B CIITA ACAD9 CA12 ABHD5 AKR1D1 TFG UROS POMGNT2 DNM2 MSMO1 MGME1 NF1 IQSEC2 GHR NDUFB3 STX11 IL6 COL3A1 TMPRSS6 AGL ATP1A1 PHKA1 GYPC COX6B1 SIL1 PIGT STAR LEP ATPAF2 GPC1 GNAS SCNN1G RRM2B PYROXD1 PAX4 NADK2 JAG1 CEP19 SAMD9 DBH ANO5 MVK NEFL LMBRD1 SLC25A38 MPI MYO1E FBXL4 MRPL3 PEX16 ALG14 PRDM16 GPX1 KY GPR35 NUP214 PNPO KRAS MATR3 KLF1 ATAD3A DNMT3A FOXP3 GYS2 CYP3A4 ARHGDIA FAT4 SLC2A2 ELN CAV1 TMPRSS15 ITGA6 HMBS RPS20 PDGFRB IL10 TMEM199 ERCC8 CAD STING1 MAD2L2 DMD DLD APOC3 ANGPTL3 CALM2 TP53 ARNT2 RBM20 MYH14 ITK TIA1 UBE3B AP1B1 NDUFS4 TUFM CYP11A1 TRDN CDKN1A PEX5 TNFRSF11B GCSH IFT122 RMRP KCNQ1 CCDC115 NDUFV1 ATP7B BTNL2 PAH MMACHC PSPH NPC2 FAM20C KRT18 OTC PDHB IGFALS MRM2 PPM1B GNPTG MYF6 RPIA GATA3 FDX2 TXNRD2 ASS1 PDSS2 TBL2 GABRA3 CFH EPB41 POU2AF1 CD244 GNE LAMP2 ABCA2 TNNI3 KIF1B LACC1 DOK7 LIMK1 SLC25A11 CLCN7 SGCA CORIN DCAF17 PSAT1 ABCB6 LBR SNX10 COX10 ANK2 PEX12 CIDEC NT5E GLUL COMT INS MTHFR HADH TAF1A GNA11 ABCG8 SMAD4 LAMA2 PUS1 PDHA1 PTH CEL FAN1 PRTN3 AQP2 RFXANK NOTCH3 PLN XK MMAA OAT GATM AEBP1 MCCC1 HLA-DPA1 DNA2 ANK1 ACADM CAPN3 TNFRSF1A LDLR SDHC HCFC1 MT-ND5 DLK1 DLST PGAM2 KRT8 FOS ENO3 CSF2RA SC5D COQ9 TRMU ATP6V0A2 WDR35 PLVAP CSRP3 CLDN16 PHYH STIM1 MICU1 NDUFA11 MAT1A ATP6V0A4 HLA-DQB1 LDLRAP1 SLC25A15 DGCR6 SYNJ1 TIMMDC1 MTMR14 EPAS1 NUP133 FLAD1 ERCC6 TK2 PAFAH1B1 FARSA TNFSF11 BCKDK ADK SLC33A1 HAMP SORD CD55 ETFB RFC2 NR1H4 CRLF1 HRAS RBCK1 NLRC4 LAMB2 TYMP C19orf12 GALT EGF HSD3B2 USP8 KCNE3 LIPT2 FLI1 CTRC TBCE CNOT1 AP5Z1 PNP PET100 PTH1R KCNJ10 SLC25A42 FLNC MT-ATP6 PSMB9 NDUFS3 CFL2 ADAMTS13 NEUROD1 SUCLG1 GK MAX GLDC HSD3B7 SLC40A1 SCN10A CFHR3 PPCS IL12A KIF23 DCXR GALNT3 BAG3 TBL1X SCN5A HSD17B10 NRAS PDK3 ACTN4 ALDH4A1 HADHA SARDH MIPEP FXYD2 NR3C1 MMAB B2M AKT2 PSTPIP1 TMTC3 MIEF2 ADSS1 AGXT BCKDHA CSF1R UROC1 AGPAT2 NPHS2 PEX19 XRCC4 LYST NEBL UNC13D NDUFAF4 MDH2 TRAPPC2L MT-TN ARVCF RINT1 LMAN1 BAZ1B NGLY1 KLHL41 COA7 GIPC1 SEMA4A MOCOS NFKB2 CLDN19 DPM1 PSEN2 SUCLA2 LONP1 FARSB EPB42 HAL ADCY3 HAND2 PCCA MAP3K20 RAB27A SEC24C GALE PSMB8 GTF2I CCT5 CLDN10 MTR TDP1 DOLK XIAP SLC3A1 STXBP2 PET117 PRKCD MT-ND3 APPL1 FAH ASL MICOS13 INVS CYC1 ALB ASPA PKD2 AMACR MC2R APOC2 PEX11B PLAU SLC6A8 PABPN1 MIF GNAS-AS1 EIF2AK3 FOXRED1 KYNU COG8 MTRR CPA1 WDR73 SLC30A2 PEX6 ETFDH PTS CDKN2B VCL MAGED2 TREX1 OSTM1 TLR3 NOS1 TJP2 PIGH FGFR1 SLC52A1 COX20 PIGY SLC35A2 SLC25A26 TFAM TAZ TNNT2 MMP1 CALM3 BAAT TPM1 APOE DUX4 LAMA3 AKAP9 PLG CTH NFKBIL1 PTEN MECP2 TSFM ORAI1 NDUFS2 PPOX RSPO1 MT-ND4 ERCC4 SLC6A3 TALDO1 MYMK TKFC PRSS2 SGPL1 HLA-DQA1 LPIN1 PTPRO FH SCN4B LMNB2 SERPINE1 TBCK RNASEH1 WDR19 TRMT10C SLC30A9 MTTP POPDC3 IFNG TIMM22 NOS1AP DES PIGN CHD7 TTPA CFB ALDH5A1 TRPM6 CTNNB1 NDUFAF5 GANAB PGM1 SELENON PLEKHG5 SCO2 NDUFB11 DNAJB6 SLC22A4 PRDX1 LDHA ACAT1 MST1 LAMA1 SH2B1 ATM FN1 RASA1 RFX6 GPHN DGUOK KCNE1 IARS1 TKT COPA FKBP14 MT-TI ATP5F1D KCNE2 GFER APC2 NPPA DNAJC21 ACADS BMP2 CBS TF PSEN1 WDR4 HTT GALNT2 MMADHC RNF168 PEX3 SLC52A2 GNMT SEC63 PAX8 DHX16 HLA-DPB1 NEXN NDUFAF8 KCNH2 TOR1AIP1 NAB2 COG2 LRP5 LEPR AP2S1 TFR2 SVIL HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION PNPT1 PET117 RPIA PDHX DLAT PDHA1 LONP1 ASPA NGLY1 NDUFA4 GLUL ALDH5A1 HP_HYPOCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIA SLC11A2 GLRX5 STEAP3 UMPS SLC25A38 HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION PEX11B PEX12 BCS1L MCOLN1 ARSA PEX5 PEX10 PEX26 PEX19 PEX13 CCDC115 PIGA HBB PEX3 PSAP ABCD1 PEX6 SLC30A10 GLRX5 HEXA PEX2 HEXB PEX1 PEX16 SLC22A5 GM2A STEAP3 ACBD5 PNPLA2 PEX14 CP HP_ABNORMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLISM MST1 LRP5 MTHFD1 CYP7A1 MGAT2 STT3A CTNS ERCC4 RFT1 AGA CBLIF ALG11 FARSB CCDC115 ATP6V0A2 SRD5A3 FAS COG6 KL COG5 CCND1 MMACHC SBDS COG8 SIM1 ALG8 DZIP1L SLC30A10 SSR4 DDOST EPHX1 ERCC2 SLC39A8 IARS1 ALG13 OCRL MMAB DLAT ALG6 ABCC8 SLC34A3 CBS LMBRD1 SUCLA2 ATP6AP2 DNAJC21 PKHD1 MPI BCO1 AMN MTR DMP1 PRKCD ERCC3 ALG3 CYP27B1 TJP2 TAT GPR35 SLC52A1 MMUT COG2 CUBN PMM2 ATP6V1A MMAA RPL11 RNF13 GALNT2 MAN1B1 MTRR MMADHC COL7A1 UCP2 CASP10 EFL1 DPM3 CYP3A4 ACOX2 FGF23 SAR1B SLC35A2 TTPA ERCC5 MCEE KCNJ11 SLC2A2 COG1 DOLK ABCD4 COG4 STT3B FKTN DPM2 GUCY2C HCFC1 SRP54 GALT VDR CLCN5 MMP1 RPS10 RASGRP1 BAAT GRM7 PGM1 CCN6 CYP2R1 MAGT1 TMEM199 DPAGT1 ACSF3 CAD ALDOB ATP6V1E1 ALG1 ENPP1 MTTP TCF4 PRDX1 DPM1 FASLG HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY LYST CR2 JAK2 DMD IL10RB CXCR4 IL6R RMRP TINF2 BRCA1 CTLA4 TTC37 RAG2 TCF3 BTNL2 RPS17 RTEL1 MMACHC ACP5 EOGT GPI RAF1 RPL18 NOTCH1 PDGFRB ZBTB24 LIG4 PIK3CD NPC2 PRF1 ATRX SLC29A3 SP110 CD3D ABL1 TGFB1 FANCM ADA2 JAGN1 FIBP FUCA1 CAP2 STAT3 GLI1 TBL1XR1 GNB1 NLRP3 FDX2 IL7R JAK3 RNASEH2B MECOM TXNRD2 IRAK4 NCF2 SEC61A1 SLC35A1 PIK3CA MYD88 LCK RARA XRCC2 IL17RA APOE COG4 MYBPC3 TNNI3 NF1 KIT SKIV2L GLB1 FHL2 FOXN1 FASLG LRRC8A NBN CFTR CLPB KLHDC8B HLA-DRB1 CLCN7 GATA1 DNMT3A FMO3 DCLRE1C IRAK1 RAC2 RPS15A DNMT3B BLM RAD51 TNFRSF1B ANKRD1 DKC1 STAT2 CEBPA SPINK1 CIITA TNFRSF13C MAGT1 ENG TET2 VPS45 SLC46A1 MVK SPINK5 TREX1 CARD11 NABP1 WIPF1 CARMIL2 FANCD2 FUT8 RPL11 RPS19 TAF1A PSENEN TYROBP PRKAR1A RAG1 BUB3 TMPO PIGL MSH2 ELANE IL36RN FERMT3 RB1 RPS10 PRTN3 CD4 DYNC2LI1 ERCC2 RFXANK XIAP PLN HBB GTF2H5 NSUN2 TICAM1 MMAA TCAP PTEN LIPA HLA-DPA1 CYBB NSD1 RPS28 FANCC TNFRSF1A TAZ NFKB2 IGLL1 IL2RG LACC1 RUNX1 HLA-B BLNK CD40 TRNT1 ACTC1 CD247 NOP10 NRAS EPG5 RPL5 SCARB2 NUMA1 MAD2L2 CSRP3 KNSTRN CD79A ADA NCF4 FANCG SRP54 BCR SMPD1 SBDS KRAS PICALM RNF113A TERC LDB3 STAT1 FAS CARD9 SLX4 TERT PGM3 ITCH TNFSF12 TDP2 RPL35A SCN10A DNAJC21 DOCK8 IKBKG DMP1 SRSF2 RPL15 PALB2 SDHA BACH2 TP53 SEMA3E SAMD9L HAVCR2 F13B NLRC4 LPIN2 ADAR CYBC1 IVNS1ABP ASXL1 ARPC1B RFX5 CTRC CD3E LBR CD70 CYBA ABCD4 PNP FLT3 NUTM1 SCN11A TTI2 ASAH1 SARS2 CCBE1 SETD2 GATA2 EFL1 PSMB9 FANCE PSEN1 STAT4 BRCA2 CBL LPP IKZF1 TNNC1 PPCS RPL27 SLC7A7 CBFB SGCD MMUT PTPN11 ADAMTS3 CD28 CALR TPP2 FANCA BAX MEFV SCN5A GINS1 WAS MPL EXTL3 MYSM1 RPL26 USB1 MMAB PSTPIP1 PSMB4 AK2 HYOU1 CD8A SGCG SLC17A5 RPS7 SH2D1A IL2RA IFNG CEP57 KIF11 TARS1 FANCF CDCA7 ERCC6L2 NEBL STS UNC13D RNASEH2A EP300 ETV6 RNU4ATAC ATM CRYAB TAL1 DOCK2 FIP1L1 LAMTOR2 FANCL EVC2 NPC1 CD19 IFNGR1 DNASE1 IVD IRF2BP2 TCIRG1 RBM8A UNC119 ICOS ZAP70 GFI1 SALL4 CASK DDX41 BUB1B PSEN2 STAT5B FANCI TSR2 SCN9A SAMHD1 PTPN22 NCKAP1L HAND2 ARHGAP26 SLC35C1 RAB27A TFRC RBPJ PTPRC OTULIN CD81 CYP26C1 PML SETBP1 HAX1 BCOR DOLK PRKCD PALLD EVC SMARCD2 CHIC2 RPS14 MYH7 AGA CHD7 DLX3 STXBP2 DDR2 IGHM GSS GATAD1 CASR PRSS1 ARHGAP31 LMNB2 G6PD PHEX IL10RA MYPN XRCC4 MS4A1 NLRP1 MPLKIP RASGRP1 UBE2A FCGR2B CAPN3 MNX1 SMARCAL1 CTC1 NFKB1 RNASEH2C ENPP1 DSG2 IFIH1 MTHFD1 RECQL4 RFXAP FCGR2A GBA CDKN2A PMM2 EIF2AK3 BAG3 MTRR CPA1 TTN F13A1 IL6ST BLOC1S6 PIGA VCL MYC CTSC TREM2 OSTM1 ATP6AP2 TRAF3 POT1 TLR3 ERCC4 ACD MYH9 CSF3R TNFAIP3 APC NPM1 NCF1 MAN2B1 BTK IL1RN HTRA2 MLLT10 RPS24 FTCD CD27 PKHD1 JAK1 CD40LG TNNT2 TNFRSF13B BRD4 TRAC TPM1 TRIP13 UBE2T SMAD4 FOXP3 UNC93B1 SLC37A4 STK4 SLC27A4 CASP8 ZBTB16 TONSL SPP1 ZNF341 PIK3R1 ACTN2 THPO AP3D1 PARN VPS33A PDGFRA CEBPE PRSS2 SGPL1 BUB1 FANCB ACVRL1 GTF2E2 VPS13B CD79B RPL35 NHEJ1 ITGB2 RPL31 ERBB3 RRAS2 NUP214 LAMA4 BCL11B ATP6AP1 MYH6 ABCC9 CASP10 MLH1 DES NSMCE3 PACS2 FKTN TBK1 CORO1A RAD51C TCN2 NLRP12 CTPS1 NEU1 ABHD5 ANAPC1 SF3B1 TBX2 STX11 WRAP53 PCCA MDM2 NTRK1 NHP2 PRDX1 IL7 SAMD9 ACAT1 DLL4 ERCC3 LEP BRIP1 APC2 LMBRD1 AP3B1 WDR1 CD3G FBXL4 LRBA TBXAS1 PRDM16 TTC7A MDM4 CLN3 FGF23 DOCK6 SREBF1 FAT4 G6PC3 RPS26 SH3GL1 HMGCL CREBBP CHEK2 RPS29 VANGL1 MSN TAL2 HLA-DPB1 NEXN RFWD3 SH2B3 STING1 LEPR RPS27 PCCB TFR2 RBM20 HELLS ITK HP_INCREASED_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_PRESSURE NOD2 STAT1 CLIP2 SUGCT CDKN1A PCSK9 NPHP1 MT-TS2 PRKAR1A TBX1 SCNN1G SMAD4 MT-CO3 PRKG1 FARSB ABCG5 AIP TRAF3IP1 HSD11B2 NFU1 MGP BTNL2 DIS3L2 VHL NOTCH2 EOGT IFT27 ENPP1 MLXIPL NOTCH1 CFI CYP11B1 B2M APRT PRKACA ALX4 MT-TF SEC24C KRT18 MT-TK RBPJ CDH23 SP110 CACNA1D GATA5 MT-TE KCTD1 GTF2I YY1AP1 CBS SMAD3 KCNJ5 HFE ENG MYH7 PKD1 ITGA8 ABCC6 CLDN1 IL12B JAK2 NPHP3 FBN1 MYLK CLCN2 PDE3A ARMC5 TBL2 BRCC3 LMX1B NKX2-5 TMEM67 G6PC EGFR MT-TC CYP3A5 INPP5E GP1BB CFH POU2AF1 MAFB ARHGAP31 COL3A1 TNFRSF11B BICC1 FN1 XYLT2 KIF1B VAC14 C8orf37 ERCC8 LIMK1 MFAP5 SHPK TRIP13 CEP290 HGD SLC25A11 HLA-DRB1 CORIN INVS TRIM28 NOTCH3 SMARCAL1 TGFB2 ARL6 GPC3 NFIX FMO3 LARS2 ALMS1 MT-CO1 PKD2 COQ7 WT1 FUZ FLT1 STAT2 WRN MTTP GLA RPGRIP1L MLX TET2 MAT2A SDHB C3 PDE8B MT-CYB GDF2 SCNN1A F5 SPIB CFHR1 COMT TSC2 MTRR DYRK1B GBE1 BNC2 MMEL1 SLC30A10 OFD1 PDE11A MT-TQ GLIS3 USP8 ABCG8 MT-TL1 TRIM32 CDKN2B BBIP1 BSCL2 LEMD3 MUC1 TREX1 MT-TW CYP11B2 BBS9 PRTN3 ANGPTL6 AGT BRCA2 WNK1 ACTA2 IQCB1 MT-ND6 FMR1 GNB3 IL12RB1 NR3C2 HBB NR3C1 HMBS MAX XYLT1 IFT172 RET OSGEP HLA-DPA1 PPARG XPNPEP3 ACP5 PKHD1 SDHC LDLR WDR19 STOX1 THSD1 TRPC6 CTLA4 DLST KRT8 TGFBR1 ELN LOX CD2AP IRF5 TNPO3 CCN2 PTPN22 PHF21A CACNA1H WDR35 SDCCAG8 TTC8 EDA TCF4 MEF2A PPOX APOA1 LMNA SLC37A4 CPOX LYZ WDPCP TMEM127 ERCC4 HPSE2 ERCC6 LZTFL1 DNAJB11 TGFBR2 TMEM70 EPAS1 UFD1 ELP1 PLIN1 BBS1 ITCH ACVRL1 SDHAF2 GTF2IRD1 TJP2 FH BBS10 CAV1 LRIG2 RREB1 COL4A3 RFC2 CALR MYH11 GUCY1A1 CYP21A2 HIRA TGFBR3 SDHD THBD CDKN1B ADA2 MDM2 GPR101 GCH1 CEP164 ADD1 NEUROG3 ADAMTSL4 FGFR2 CFB PTGIS BMPR2 POU3F4 H19 REST SLC2A10 MT-TV IDUA GANAB ECE1 SDHA KCNMB1 TNFSF15 NDUFAF6 DCDC2 TNFRSF11A BBS7 CCR6 POU6F2 NF1 MT-CO2 SCNN1B JMJD1C STN1 CFHR3 AVPR2 SPRY2 LRP6 ACAT1 VANGL1 MST1 IL12A DLL4 AGTR1 CC2D2A COL4A4 GJA1 CYP17A1 DGUOK CDKN2C KLHL3 SMAD6 ACTN4 MMP2 GNAS SERPINA6 IDS LDLRAP1 DZIP1L NOS3 CEP19 MYMK FGA INF2 CD46 FIG4 CUL3 CCDC28B MKKS BBS5 MT-ND1 POR FOXE3 MEN1 BBS4 GDNF ZMPSTE24 TGFB3 PAM16 SCN2B ABCB6 EXT2 APOB GPR35 PIGM BANF1 WNK4 CCND1 BBS12 MMP14 DNMT3A TMEM237 MDH2 GBA ARVCF SH2B3 DOCK6 MKS1 COL4A5 NSMCE2 TSC1 NPHP4 BAZ1B HLA-B EDA2R MPL HLA-DPB1 MT-ND5 TP53 MC4R BBS2 HP_ABNORMAL_GRANULOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTE_COUNT LYST ZAP70 UNC93B1 STAT1 GFI1 SRP54 SLC37A4 NPM1 SBDS STK4 SLC27A4 IL7R FANCE RNF113A CXCR4 TERC ZBTB16 LAMTOR2 TONSL CD79A RMRP STAT5B FANCI EXTL3 TSR2 RAG2 ZNF341 FAS CARD9 TCF3 BTNL2 PIK3R1 STAT3 RPS17 MMACHC ACP5 AP3D1 SLC35C1 PDGFRA ICOS RPL18 PDGFRB RAB27A PGM3 ITCH TFRC ATRX GTF2E2 TDP2 OTULIN CD3D RPS19 PML ADA2 JAGN1 VPS13B HAX1 IKBKG DNAJC21 BCOR SRSF2 CD79B RPL35 RPL15 PRKCD BACH2 TET2 IL2RG FANCC SLC35A1 SMARCD2 RPL31 FIBP TBL1XR1 AGA IGHM FDX2 CHD7 BCL11B MECOM IRAK4 ASXL1 SEC61A1 GSS RARA CASP10 NLRP3 GATA1 RFX5 PACS2 TBK1 RPL26 CD3E LBR TCN2 ABCD4 COG4 PNP RNU4ATAC ADA CIITA FASLG LRRC8A CLPB NLRP1 MPLKIP ANAPC1 GATA2 EFL1 KRAS RASGRP1 HLA-DRB1 SF3B1 UBE2A CAPN3 STX11 SMARCAL1 FMO3 RPS7 PCCA DCLRE1C RAG1 RPS28 CBL RPS15A PRDX1 RPL27 SAMD9 LIG4 RECQL4 RFXAP MMUT VPS45 SLC46A1 ERCC3 FANCA MVK SPINK5 CARD11 MEFV NABP1 WAS WIPF1 EIF2AK3 RFXANK GINS1 MYSM1 FUT8 MTRR USB1 DOCK8 RPL11 BLNK NRAS PRKAR1A IL6ST MMAB ELANE AK2 SAMD9L CD247 LMBRD1 HYOU1 AP3B1 IL36RN RPL35A TRAF3 RPS10 WDR1 FBXL4 LRBA SH2D1A IFNG TERT TLR3 ERCC2 XIAP TAZ TARS1 MDM4 CSF3R GTF2H5 TICAM1 MMAA BTK FOXP3 UNC13D IL1RN HTRA2 RPS24 SREBF1 RAC2 G6PC3 RPS26 NUMA1 JAK1 IGLL1 CD40LG RPS29 RUNX1 FIP1L1 CD40 FANCD2 MSN TRAC RPL5 MAD2L2 PRF1 RPS27 ETV6 PCCB IRF2BP2 TFR2 KIT TCIRG1 FANCG RBM8A HP_REDUCED_FORCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FORCED_VITAL_CAPACITY CSF2RA ACTA1 SELENON SFTPC FKRP RYR1 MCIDAS COL6A2 TPM3 RTEL1 CRPPA PARN BAG3 TPM2 MYH7 SLC25A21 NEK10 HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND CSF2RA RTEL1 PARN ITCH NEK10 HP_ABNORMAL_GROWTH_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GROWTH_HORMONE_LEVEL NODAL HPGD GLI3 CDKN1A PROP1 PRKAR1A SMARCE1 ALMS1 AIP CDKN1B FANCI KMT2A DISP1 SBDS FLNB THOC2 CDH23 TGIF1 SIX3 POU1F1 KANSL1 MAGEL2 GNAS SNRPN CDKN1C SRD5A3 ABCC8 GHRHR PDE4D SOX3 NDN TBCK RBM28 RRAS2 BAP1 ZNF148 SEMA3E GPR101 SMC1A SMARCB1 STAT5B SHH SLC7A7 LHX4 BRCC3 GLI2 NFKB2 SLCO2A1 LHX3 PDGFB ADNP RFWD3 CHD7 MEN1 STAG2 HERC2 GH1 POU3F4 CDON PWAR1 SRP54 WASHC5 PTCH1 DLL1 AKT1 ADAT3 GRM7 GAS1 BTK TBX2 HESX1 GMNN PITX2 NPAP1 FGFR1 FOXH1 YY1 SNORD116-1 ZIC2 SMO VPS13B TDGF1 TRAF7 TERT TP63 EIF2S3 SIN3A PMM2 STX16 IARS2 CDKN2C PNPLA6 PREPL MKRN3 SNORD115-1 MADD MARS2 POMC RNPC3 SLC29A3 CDKN2B DNAJC21 FGF8 SUFU POLR3A POLE OCA2 KATNIP DCAF17 TMEM67 CEP57 WDR4 TBCE DMPK NF2 UCP2 EFL1 PWRN1 LEPR KCNJ11 ACP5 DYRK1A AFF4 FOXA2 IGF2 PIK3CA OTX2 GHSR PCSK1 ARNT2 TMCO1 HP_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACIDEMIA ETFA ETFDH MCEE MMAB PAH MMACHC DNAJC19 MMAA L2HGDH GCDH ABCD4 CCN6 ETFB MMADHC LMBRD1 HCFC1 SUCLA2 PRDX1 MMUT ACSF3 IDH2 HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA ERMARD INTS8 CPLX1 ARFGEF2 VPS35L MAP1B FAT4 DCHS1 NEDD4L ZMIZ1 TBC1D24 ARF1 ZSWIM6 HP_SUBCORTICAL_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_HETEROTOPIA TUBG1 LAMB1 FAT4 CRPPA DCHS1 TUBGCP2 CEP85L EML1 KIF2A PAFAH1B1 HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL SPINK1 UNC93B1 PADI4 IL6 TICAM1 STAT4 PTPN22 IL6R IL1RN PRKCD NLRP3 MEFV MIF IL2RA CTRC CD244 HLA-DPA1 TBK1 CASR PRSS1 TNFRSF1A NLRP12 CPA1 ADA2 PRSS2 PTPN2 CTLA4 LACC1 ANKRD55 CD247 CFTR COPA HLA-DRB1 NLRP1 PSMB8 PSTPIP1 OTULIN MVK UBA1 IL10 HLA-DPB1 IL36RN TRAF3 STING1 IL2RB PRTN3 NFKBIL1 TLR3 SLC22A4 CIITA NLRC4 ITK HP_PULMONARY_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CYST SFTPA1 MUC5B SREBF1 DPP9 PARN ATP11A TERC RTEL1 SFTPC PRKAR1A SFTPA2 DSP TTC7A FLCN ABCA3 TERT AKT1 FAM13A STN1 PTEN HP_ABNORMAL_PULSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULSE XYLT1 XYLT2 ABCC6 ENPP1 RASA1 HP_ABSENT_SPERM_FLAGELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SPERM_FLAGELLA TTC29 DNAH17 DNAH2 CFAP58 DNAH1 ARMC2 DZIP1 SPEF2 QRICH2 CFAP43 FSIP2 CFAP65 CFAP251 CFAP44 DNAH8 HP_SHORT_SPERM_FLAGELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_SPERM_FLAGELLA CFAP70 CFAP69 TTC29 DNAH17 DNAH2 CFAP58 DNAH1 DZIP1 QRICH2 CFAP43 FSIP2 CFAP65 CFAP251 CFAP44 DNAH8 HP_TAPERED_SPERM_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_SPERM_HEAD CFAP70 CFAP69 TTC29 DNAH17 ARMC2 HP_HAND_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_APRAXIA STXBP1 GABBR2 CDKL5 MECP2 NTNG1 PLP1 HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS VAMP2 SCN1A STXBP1 PCDH19 TWNK SCN1B GABRA1 POLG ASAH1 SCN2A MRM2 GABRG2 SCN9A HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA GABRD MEN1 CDKN2C SCN1A CDKN1B CDKN1A GABRG2 CDKN2B HCN1 STX1B ODC1 SCN2A SCN9A SCN1B ADGRV1 HP_GENERALIZED_ONSET_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_MOTOR_SEIZURE JRK MT-ND4 ALDH7A1 MFSD8 ELOVL4 NEXMIF SLC25A15 KCNQ2 SLC9A6 GBA STAT3 SPATA5 AP2M1 CARS2 KCNA1 BTD GRIN1 HCN1 VPS53 EPM2A TSEN15 MT-TF ABCC8 MBD5 PIGQ PAFAH1B1 ZMYND11 NTNG1 GABRG2 ARHGEF9 PLAGL1 SIK1 SAMD12 EFHC1 PDX1 GABRA1 SEPSECS HACE1 TAOK1 CACNB4 MYT1L CSNK2B HYMAI GABRD MT-TQ CILK1 AFG3L2 SLC25A22 BRAT1 CACNG2 NUS1 MTHFR PCDH19 ASH1L GABRB3 MT-TV SCN1A SCN9A KCNQ3 PNKP CUX2 MED13 CLCN2 CAMK2B CDKL5 PCYT2 CHD2 DEAF1 PIK3CD ADGRG1 NEU1 NARS1 MT-ND1 STX1B MBOAT7 TBC1D24 NGLY1 BRSK2 TSEN2 ADGRV1 KCNJ11 SDHAF1 MT-TS2 CPLX1 ALDH5A1 SDHA PTRH2 SCN8A TSEN54 MT-ND5 GLB1 MT-ND6 GAD1 OPHN1 MT-TL1 SETD2 GCK MT-ATP6 SCN1B EPB41L1 MT-TK NEUROD2 CDH15 SCN2A KCNT2 PURA ACSF3 KCTD7 NDUFA1 GAMT SMS KIF1A DOCK8 SYNGAP1 GALC RAB11A MED12L STXBP1 PRDM8 KDM5B GRIN2A PCDH12 NHLRC1 ASAH1 PIGT DOCK7 SDHD PIGA CLTC MECP2 PIGP SLC12A5 PSAP TRIM8 HIVEP2 EXOC8 PRRT2 CAMK2A PPP3CA DYNC1H1 NDE1 BUB1B TRPM3 SLC6A1 MT-TI APC2 MT-ND2 PRICKLE1 RPL10 GNAO1 DMXL2 MT-TH MT-RNR1 DNM1L GRIN2B KCNQ5 MT-TP MT-TW TBCD MAPK10 PHGDH KIRREL3 IER3IP1 ARX GABBR2 NSD1 GABRA5 EEF1A2 COX8A DPM2 CASK DYRK1A TSEN34 INS SET CIC COQ5 TMX2 TRIT1 DNM1 GRN CUX1 CHAMP1 TANGO2 SDHB COG2 MT-ND3 KNSTRN UBE3A TCF4 TRAPPC9 LNPK DHDDS HP_FOCAL_NON_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_NON_MOTOR_SEIZURE GRIN2B CAMK2B KDM5B KCNQ5 GRIN1 DEAF1 CAMK2A GLI3 PHGDH SCN8A KIRREL3 NHLRC1 CACNA1A NGLY1 RELN BRSK2 CLTC EEF1A2 EPM2A ADGRG1 MBD5 SET HIVEP2 ZMYND11 ATP1A2 LGI1 PPP3CA CIC DYNC1H1 PRRT2 TRPM3 TAOK1 SRPX2 EPB41L1 SCN1A TREX1 MYT1L CDH15 CSNK2B CUX1 KCNQ2 PI4KA KCNA1 CHAMP1 CACNG2 KIF1A ASH1L CNTN2 DOCK8 SYNGAP1 TCF4 MICAL1 PACS1 KCNQ3 RAB11A MED12L STXBP1 HP_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONIC_SEIZURE KDM5B GRIN2A DMXL2 PTPN23 PIGT DOCK7 KCNQ2 CLTC KCNA1 GRIN1 PIGP VPS53 MBD5 TRIM8 PIGQ SCN1A PAFAH1B1 HIVEP2 ZMYND11 GABRG2 ARHGEF9 STXBP1 PRRT2 SIK1 PPP3CA DYNC1H1 TRPM3 TAOK1 MYT1L CSNK2B SCN2A RPL10 GNAO1 SLC25A22 CACNG2 PCDH19 ASH1L GABRB3 CLCN4 SCN1B CEP85L KCNQ3 PNKP CUX2 GRIN2B CAMK2B CDKL5 KCNQ5 DEAF1 CAMK2A TBCD MAPK10 KIRREL3 NGLY1 BRSK2 ADGRV1 GABRA5 EEF1A2 CASK SCN8A SET CIC ARX CHD2 EPB41L1 GABRA1 NEUROD2 CDH15 DNM1 CUX1 PURA CHAMP1 TANGO2 COG2 KIF1A DOCK8 GRIA2 SYNGAP1 TCF4 RAB11A MED12L SCN9A HP_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SEIZURE MT-ND4 ALDH7A1 MFSD8 ELOVL4 NEXMIF SLC25A15 GBA STAT3 EXTL3 SPATA5 AP2M1 CARS2 BTD GRIN1 HCN1 VPS53 AP3D1 EPM2A TSEN15 MT-TF ABCC8 MBD5 PAFAH1B1 ZMYND11 NTNG1 GABRG2 PLAGL1 SAMD12 PDX1 SETD1B SEPSECS HACE1 TAOK1 TGFB1 MYT1L CSNK2B HYMAI MT-TQ AFG3L2 SLC25A22 BRAT1 CACNG2 NUS1 MTHFR PCDH19 ASH1L GABRB3 MT-TV CEP85L SCN1A SCN9A CUX2 CAMK2B CHD2 DEAF1 PIK3CD ADGRG1 NEU1 NARS1 MT-ND1 STX1B MBOAT7 TBC1D24 NGLY1 BRSK2 TSEN2 APC2 KCNJ11 SDHAF1 MT-TS2 CPLX1 PYCR2 ALDH5A1 SDHA PTRH2 TSEN54 MT-ND5 GLB1 MT-ND6 GAD1 OPHN1 CILK1 MT-TL1 SETD2 GCK MT-ATP6 SIK1 EPB41L1 MT-TK KCNMA1 CDH15 SCN2A KCNT2 KCTD7 NDUFA1 GABRD GAMT DALRD3 SMS KIF1A DOCK8 SYNGAP1 CAMTA1 GALC RAB11A MED12L SCN1B STXBP1 PRDM8 KDM5B PCDH12 DMXL2 NHLRC1 ASAH1 PTPN23 CLCN2 PIGT SDHD PIGA CLTC MECP2 SLC12A5 PSAP HIVEP2 EXOC8 CAMK2A PIGQ PPP3CA DYNC1H1 NDE1 BUB1B TRPM3 SLC6A1 MT-TI MT-ND2 PRICKLE1 EFHC1 MT-TH MT-RNR1 DNM1L GRIN2B KCNQ5 MT-TP MT-TW MAPK10 PHGDH KIRREL3 CDKL5 IER3IP1 ADGRV1 ARX GABBR2 CACNA1D NSD1 GABRA5 EEF1A2 COX8A DPM2 DYRK1A TSEN34 INS SET CIC EXOC7 GABRA1 TRIT1 DNM1 GRN CUX1 CHAMP1 TANGO2 TMEM231 SDHB MT-ND3 KNSTRN TCF4 TRAPPC9 LNPK DHDDS HP_INFECTION_RELATED_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFECTION_RELATED_SEIZURE JRK GRIN2A NFIX SCN8A MVK RSRC1 KCNQ3 KCNQ2 KCNJ6 STX1B GABRA1 KMT5B KCNA1 GPT2 HCN1 PIGP SLC12A5 TSEN15 APP TRIM8 PIGQ SCN1A MBD5 SCN1B GABRG2 PRRT2 SIK1 AUH EFHC1 CACNA1H CPA6 SLC6A1 SEPSECS CACNB4 POGZ TBC1D24 SCN2A RPL10 WAC GABRD CILK1 SETD5 PCDH19 SCN9A DMXL2 PEPD CEP85L PNKP DYRK1A SLC2A1 CLCN2 GNAO1 CHD2 SLC35C1 TBCD SRPX2 GALC MBOAT7 CACNA1A SLC25A22 AP4S1 ADGRV1 TSEN2 ERLIN2 AP2M1 ACADM MT-TK COG4 WDR26 CASK TSEN34 TSEN54 ATP1A2 GABRB3 STXBP1 ARX HERC2 CPLX1 HS6ST2 NEUROD2 VPS11 GLS MAF SLC44A1 GRIA2 CDKL5 KCTD7 RNU12 HP_ABNORMAL_URINE_PH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PH ETFA HMGCL MT-ND4 GATM SUGCT CPOX SUCLA2 ACADM MVK IDH2 MRPS2 GCDH HLCS HPD BTD SLC25A20 DNAJC19 MMACHC HADH FLAD1 PCCA POLG ACADS MCCC2 NADK2 DHTKD1 ETFDH MMAB CD320 AGXT ETFB GRHPR LMBRD1 MT-ND2 TAT ACAD8 MPC1 ETHE1 L2HGDH UROC1 TCN2 MT-TV D2HGDH OXCT1 TAZ SLC52A1 MMUT RET SLC52A2 MT-TW MMAA MT-ND1 PET117 MMADHC CPT2 SLC25A1 SLC25A4 HOGA1 ACSF3 MCCC1 MLYCD MCEE ALDH5A1 ABCD4 PEX1 HCFC1 MT-ND5 SLC25A21 ACAD9 MT-ND6 MT-TL1 LDHD KIF1B MT-ATP6 HMBS SLC25A19 SLC26A1 PCCB SUCLG1 SCO1 MT-ND3 ACADVL MT-TK NDUFB10 PRDX1 PPOX PDP1 HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY CSF2RA SLC7A7 COPA SFTPC CSF2RB MUC5B BTNL2 MARS1 SFTPB HLA-DRB1 TERT SFTPA2 ABCA3 HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID BTNL2 COPA SFTPC MUC5B HLA-DRB1 TERT SFTPA2 HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM RAD51D BMPR1A KEAP1 WT1 STK11 KLF6 PALB2 CHEK2 SOX9 STS NR5A1 RNF43 PRKAR1A BRIP1 TP53 RAD51 CDC73 CDKN2A RAD51C FLI1 CDH1 STAR GATA4 CDKN1B TXNRD2 MXI1 BRCA1 KANSL1 STAT6 GREM1 MRAP ZFHX3 DICER1 APC PTEN ZFPM2 SRY IGF2 RNASEL NNT DHX37 NAB2 BRCA2 BARD1 EWSR1 MDM2 NBN AR EPHB2 MC2R NR0B1 MRE11 MAP3K1 MAD1L1 VAMP7 DMRT3 AKT1 WWOX RAD50 HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM BMPR1A POLE MCC STK11 MSH6 DMPK BUB1B NTHL1 PDGFRL AXIN2 AURKA CXCR4 CCND1 MSH3 PRKAR1A MLH3 CDC73 FLI1 POLD1 DCC SLC6A17 CDKN1B AKT1 TP53 SDHD CTNNB1 PMS2 BAX COL4A5 SEC23B PTPRJ CDH1 PIK3CA BUB1 STAT6 SDHB GREM1 BUB3 FGFR3 RPS20 TRIP13 SRC FLCN MLH1 FH DLC1 DOCK8 PTEN USF3 MSH2 PLA2G2A NAB2 RAD54B KLLN APC TLR2 PTPN12 SEMA4A CEP57 EP300 SDHC SRY COL4A6 NRAS HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE SDHD VPS13C DOCK3 MAX DDX6 RLIM DNMT3A MDH2 SDHB UCHL1 BPTF SGCE PODXL RET CIZ1 LRRK2 GABBR2 KMT2E MYT1L EPAS1 MECP2 CREBBP VHL PSMD12 TRMT1 SDHC ACTL6B DLST NTNG1 BCORL1 FBXW11 PINK1 TMEM127 SDHA CDKL5 SVBP MED13 SLC25A11 KCTD17 SDHAF2 TCF20 SPART FH HTRA2 NF1 DNAJC6 SNCA DRD2 ACTL6A PRKN STXBP1 TANC2 EP300 WDFY3 PARK7 TOR1A TP53 ZMIZ1 SYNJ1 TRAPPC4 KIF1B HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT C5 C8B C8A C7 C6 C9 HP_ABNORMAL_FACTOR_IX_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACTOR_IX_ACTIVITY F9 VKORC1 GGCX PMM2 MGAT2 HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE STAT4 CPOX UROS CPT2 GPC1 IRAK1 DMD HMBS SPP1 TSC1 TSC2 BLVRA ABCC2 GATA1 PYGM SLC6A19 HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND NKX2-5 NKX2-1 KAT6B TSHR PAX8 GLI3 IRS4 FOXE1 POLR1C SLC26A4 NSDHL ADAMTSL1 TCOF1 POLR1D HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE MTR MMACHC MTHFR SLC7A9 CBS ABCD4 MTRR MMADHC SLC3A1 PREPL LMBRD1 HCFC1 PRDX1 CAMKMT PPM1B HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE SLC7A7 SLC3A1 SLC7A9 GUCY2D SLC1A1 HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL OPLAH MOCS1 ASPA GPHN MOCS2 GSS HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL SLC7A7 SLC36A2 CTH SLC6A19 PLOD2 MMACHC ALDH4A1 SLC7A9 TNFRSF11A PRODH ALDH5A1 SLC6A20 TNFRSF11B DMGDH LMBRD1 SLC3A1 SLC6A18 PRDX1 DHTKD1 HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE SLC36A2 SLC6A19 PCCA ALDH4A1 AMT GLDC PRODH ACADM SLC6A20 GCSH PCCB IVD MCCC2 SLC6A18 HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE SLC6A19 SLC7A7 GUCY2D MTRR ACADM GCSH MMADHC SLC3A1 ARG1 CAMKMT HAL MMACHC ALDH4A1 SLC7A9 MTHFR PRODH ABCD4 MCCC2 PREPL HCFC1 SARDH SLC6A20 AMT OPLAH LMBRD1 SLC6A18 PPM1B SLC36A2 MTR PCCA CBS GLDC PCCB IVD PRDX1 SLC1A1 HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION SLC7A7 PNPO ASS1 QDPR OTC HPD MAT1A MMAA PHGDH GUCY2D LMBRD1 MTRR PET117 COX5A TNFRSF11B GCSH MMADHC ARG1 GCH1 TALDO1 NADK2 MCCC1 BCKDHB FTCD GLUL GLRX5 TTC37 PSAT1 HAL PAH MMACHC COX8A ALDH4A1 KYNU MTHFR NAGS PRODH ABCD4 MDH1 GNMT PSPH BCAT2 SLC30A10 SARDH ASL CPS1 FAH BCKDK MMAB ADK PTS AMT DBT TAT AHCY SLC25A13 AASS BCKDHA MTR SUCLG1 IRF6 DLD PCCA GLYCTK PCBD1 CBS GLDC UROC1 PCCB SPR MCCC2 NDUFB10 PRDX1 MMUT COX10 PDP1 HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION SLC7A7 MT-ND4 PDHX COX6B1 MT-TW LIPT2 FBP1 MT-ND1 COX5A MTO1 BCKDHB TMEM70 TMEM126B MMACHC COX8A NDUFA13 NAGS RRM2B MIPEP MT-ND5 MT-ND6 MT-TL1 MT-ATP6 MICOS13 DBT PC LMBRD1 MT-ND2 SLC25A13 POLG COQ9 PDHA1 BCKDHA FBXL4 SCO1 MRPL3 MTHFR ASPA MT-ND3 CTH PNPLA8 CA5A TRMT10C MT-TV MT-TK NDUFB10 PRDX1 COX10 ATP5F1A PDP1 TYMP HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION SLC7A7 MT-ND4 MT-ND6 MT-TW PLAU OTC MT-TL1 PCK1 APP MT-ATP6 NOS3 OAT MT-ND1 SLC25A15 MT-ND2 SLC25A13 MRM2 MPO A2M MT-ND3 HFE ALDH5A1 MT-TV DMGDH MT-TK CPS1 MT-ND5 HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION ROR2 SDHD TBX20 DAXX GATA6 DVL1 MYH7 GATA4 ACTC1 NKX2-5 CITED2 WNT5A SELENON MYH6 BMPR2 ATRX TLL1 TTN HP_ABNORMAL_SHOULDER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHOULDER_PHYSIOLOGY GNE RECQL4 COMP TPM2 ZC4H2 PKDCC ZMPSTE24 MYH7 GNPTAB LMNA SGCA HP_ABNORMAL_RENAL_ECHOGENICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_ECHOGENICITY KIAA0586 CSPP1 COG6 SARS2 PBX1 SLC30A9 TCTN2 DZIP1L REN MYOCD INVS CILK1 KIF14 BICC1 HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION AP1B1 AP1S1 COG2 SLC33A1 TMEM199 CP CCDC115 HP_ABNORMAL_PHARYNX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PHARYNX_MORPHOLOGY DNAAF5 ZAP70 CIITA STAT1 CR2 SRP54 TNFRSF13C GLI3 MAGT1 DNAAF4 NBN LRRC6 GFI1 COL5A2 ATM CXCR4 RSPRY1 IL6R SCNN1A CD19 GNPTAB JAK3 CD79A ALMS1 ICOS CTLA4 RFXANK LEP NCF4 MGP CARMIL2 RAG2 CFI USP9X SHH MYSM1 ACP5 DCLRE1C USB1 IDS DNAAF1 MID1 RFX5 CREBBP ADA TAPBP STAT3 NEK10 PRPS1 CCDC65 CFAP298 GALNS TP53 DNAH5 TBC1D24 SLC29A3 TNFSF12 PSMB8 PTPN22 F12 CD81 MCIDAS DOCK8 SPAG1 SERPING1 RAG1 MST1R LRBA GAS2L2 CD79B SH2D1A KATNIP RSPH4A MATR3 TP63 HYDIN ZMYND10 SCNN1G PLP1 SCNN1B ANKH HPS6 XIAP IGHM MDM4 UNG ARMC4 TAP2 ASAH1 IL7R GJA1 RSPH1 ELANE GNS IVNS1ABP STXBP2 FOXJ1 EGFR FCGR3A PRKCD DNAAF2 RNF168 EP300 GLB1 DNAAF6 MED12 TNFRSF13B RFXAP FOXP1 LEPR TCOF1 IL17RA FOXN1 RAC2 RPGR PLG SALL4 TNFRSF1A IL21R AICDA COG4 ADA2 ADNP GUSB PNP DNAJB13 NFKB2 IL2RG SGSH SETBP1 MS4A1 WAS HGSNAT STK11 FGFR2 NME8 OFD1 GAS8 TAP1 NFKB1 SH3KBP1 CCDC114 NAGLU COL5A1 DNAI2 ARSB FGFR1 TCIRG1 UNC119 HP_DECREASED_CD4_CD8_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CD4_CD8_RATIO AP3B1 MAGT1 IL2RA CTPS1 CASP8 HP_NON_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MOTOR_SEIZURE KCNMA1 JRK SMPD1 GLI3 NEXMIF DMD ALMS1 RELN GDI1 KCNQ2 STX1B GABRA1 SPATA5 AP2M1 KCNA1 GRIN1 HCN1 EPM2A MBD5 PIGQ PAFAH1B1 ZMYND11 GABRG2 SIK1 EFHC1 NUBPL SETD1B ARHGEF6 GABRB3 TAOK1 CACNB4 RPS6KA3 SLC35A3 MYT1L CSNK2B GABRD CILK1 DHFR CACNG2 MTHFR PCDH19 GRIN2A ASH1L PRRT2 DLG3 CEP85L SCN1A SCN9A KCNQ3 PNKP CUX2 CLCN2 CAMK2B CHD2 DEAF1 ADGRG1 SRPX2 SLC2A1 UPF3B CACNA1A SLC25A22 NGLY1 BRSK2 SON USP9X IQSEC2 ALDH5A1 SCN8A ATP1A2 RNU4ATAC SETD2 SCN1B EPB41L1 SMARCA2 MED12 NEUROD2 CDH15 SCN2A KCNT2 ACSL4 SATB2 KIF1A DOCK8 GOSR2 SYNGAP1 CDKL5 RAB11A MED12L STXBP1 DPM3 KDM5B NHLRC1 ASAH1 PIGT DOCK7 ZNF81 CLTC PAK3 HNRNPK PIGP GLUD1 SLC12A5 SYP MECP2 EHMT1 TRIM8 HIVEP2 MID2 CACNA1H PPP3CA DYNC1H1 TRPM3 SLC6A1 APC2 AGTR2 ZNF711 ZEB2 TREX1 WAC CNKSR2 SZT2 DMXL2 CNTN2 CLCN4 PIGM RORB ALG13 GNAO1 GRIN2B FRRS1L KCNQ5 CAMK2A MAPK10 ZNF41 PHGDH KIRREL3 PTCHD1 CSTB TSPAN7 RAB39B ADGRV1 NSD1 SLC9A7 EEF1A2 FRMPD4 WDR26 CASK DYRK1A USP27X ARX SET CXorf56 LGI1 CIC DNM1 LAMA2 CUX1 PI4KA CHAMP1 IL1RAPL1 FTSJ1 HCFC1 UBE3A NFKB2 TCF4 GATAD2B MICAL1 PACS1 DHDDS ATAD3A HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY DGKE COL4A5 CEP83 ARHGDIA GATA3 COL4A3 COL4A4 CFH HP_ACUTE_PHASE_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_PHASE_RESPONSE SPINK1 UNC93B1 PADI4 IL6 TICAM1 STAT4 PTPN22 ARPC1B POMP IL1RN SPP1 PRKCD MVK NLRP3 MEFV HLA-DRB1 MIF IL2RA CTRC CD244 HLA-DPA1 TBK1 CASR PRSS1 TNFRSF1A NLRP12 CPA1 ADA2 PRSS2 TREX1 PTPN2 CTLA4 LACC1 ANKRD55 CASP10 MYD88 NOD2 CD247 SLC29A3 CFTR COPA NLRP1 PSMB8 PSTPIP1 PSMB9 OTULIN PSMB4 UBA1 IL10 HLA-DPB1 IL36RN TRAF3 STING1 IL2RB PRTN3 IRAK1 NFKBIL1 TGFB1 IFNGR1 TLR3 LPIN2 SLC22A4 CIITA NLRC4 ITK HP_NEURALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURALGIA BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 PDGFB PRNP SMO HP_EPILEPTIC_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_AURA RELN PRRT2 CNTN2 NHLRC1 SCN8A SRPX2 EPM2A SCN1A ADGRG1 TREX1 MICAL1 CACNA1A KCNQ2 KCNQ3 ATP1A2 PI4KA LGI1 KCNA1 HP_ABNORMAL_URINE_METABOLITE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_METABOLITE_LEVEL LCAT CLIP2 GCLC ATP5F1E CASK TBC1D8B PCK1 CD46 CTNS GUCY2D PEX5 SUCLA2 AGA ACADM SLC25A15 TNFRSF11B GCSH RMRP TP53RK BCS1L STAT3 KCNJ1 ATP7B HSD17B10 HAL ALK PAH XPC DDB2 VHL NOTCH2 MMACHC SLC16A1 HFE MT-ND1 HNF4A MCCC2 PREPL RYR1 CFI IDS GATA3 B2M SUMF1 APRT PSTPIP1 PDX1 OCRL KRT18 GALE OTC MT-TK LAMB2 HPRT1 TBC1D24 PAX2 MT-TE GTF2I GSN ABCC8 GALK1 PLCE1 SLC25A13 PPM1B MAGI2 ITGA8 PIEZO1 MTR MT-CO1 WDR19 SLC35A1 FUCA1 RPIA TANGO2 PHKA2 OPA3 SLC3A1 SLC6A19 ALAD SLC7A7 ASS1 MIR140 PDSS2 TBL2 CLCN5 LMX1B MT-ND5 FBP1 SLC19A2 MCCC1 G6PC NPHS1 SNX14 GSS NUP85 KANK2 GLB1 TIMM50 NGLY1 STK11 MAFB SLCO1B1 LMNB2 SLC34A1 MCEE CPT2 G6PD KCNE5 MT-ND6 BICC1 FN1 SLC22A12 PHKG2 GAA TREX1 KIF1B CPS1 SGSH GUSB ERCC8 APPL1 LIMK1 FAH RET WDR4 ASL GCK DNASE1L3 HGD SLC25A11 MT-TL1 CORIN SMARCAL1 ATAD3A FMO3 LAGE3 WDR73 ASPA IRAK1 TMEM70 PKD2 DMGDH COQ8B FLT1 STAT2 ANLN SLC1A1 GLA HMGCL GATM DPYD PLOD2 APOE FKRP SDHB PIGB C3 GBA PGK1 MVK MOCS1 GNPTAB COQ2 PMM2 TTC37 EIF2AK3 CTH HPD INS MTHFR KLF11 HADH GLUD1 POLG MT-TF OFD1 AUH ETFDH SERAC1 PIGA MT-CO3 GRHPR TAT CEL FAN1 PFKM SLC16A12 SLC36A2 PRTN3 TNFRSF11A TP53 SUOX PEPD TAZ IDUA PKD1 HMBS MAX MMAA DDOST SLC12A1 OAT HTRA2 OSGEP BCKDHB FTCD HLA-DPA1 ACP5 SLC7A9 FOXC2 SCARB2 NT5C3A MAN2B1 PUS3 STOX1 SDHC HCFC1 TRPC6 CTLA4 GEMIN4 DLST ZAP70 CLPB PGAM2 KRT8 ELN MEFV CD2AP TRNT1 SLC12A3 MT-TW DBT KCNJ11 GATA6 PTPN22 PRPS1 MT-ND4 ERCC4 CLDN16 EHHADH CASR COA8 BLK PIK3C2A RRM2B PPOX APOA1 SLC37A4 KRAS CPOX LYZ UMPS COL2A1 TMEM127 SPP1 HNF1B COX14 TOP2A ACSL4 SPINK5 EPAS1 NUP133 AMMECR1 CYP27B1 ERCC6 VPS33A SLITRK6 SGPL1 DHTKD1 NUP107 WT1 SLCO1B3 LPIN1 HIBCH AMT SLC5A1 SDHAF2 GTF2IRD1 ETFB PTPRO FH MARS1 OPLAH PYGM MOCS2 COL4A3 TPRKB RFC2 MICOS13 GLYCTK DMD ITGA3 SLC6A20 MT-TS2 COQ6 OXCT1 PEX1 SDHD XDH CFH GALT LPIN2 NUP160 THBD ANO5 HADHB LRP2 ARG1 CAMKMT CLCNKB HMOX1 NDUFAF6 SNAP29 CACNA1S CFB MT-TN PRODH ALDH5A1 ABCD4 HYAL1 NAGA PET100 XPA NEU1 SLC2A2 SDHA GANAB SARS2 CYP2R1 KYNU NF1 SLC6A18 ADAMTS13 MT-TH NEUROD1 INF2 STAT4 MAF CD59 ALDOB GK PCCA NAGLU LIN28B MYH9 GLDC HELLPAR PRDX1 SPRY2 SAA1 LDHA ALPL ACAT1 ETFA PHKA1 SH2B1 DCXR MANBA COL4A4 NIPBL ERCC3 PYGL SURF1 ATPAF2 HNF1A ACTN4 DNAJC19 OGDH GPHN ALDH4A1 HADHA PAX4 SARDH NOS3 DGUOK GALNS ERCC5 TKT DBH MMAB FGA ATP5F1D PNP LMBRD1 MT-TQ AMN BCKDHA MYO1E GDNF CBS UROC1 MTX2 NPHS2 COL4A6 CUBN GNS DNMT3A MTRR MDH2 ERCC2 GYS2 MMADHC ISCU ARHGDIA IER3IP1 PHOX2B PIGT SGCB COL4A5 NSMCE2 HACE1 AGK FARS2 SMAD4 SLC5A2 BAZ1B LMNA HGSNAT LMO1 HLA-DPB1 MYCN DLD GCDH ACADVL CA5A DGKE TK2 PCCB CRPPA IVD NDUFB10 ARSB MT-CO2 HP_ABNORMAL_URINE_OSMOLALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_OSMOLALITY NPHP1 AQP2 AVPR2 SLC12A1 KCNJ1 HP_TISSUE_ISCHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TISSUE_ISCHEMIA GLA CLIP2 JAK2 MLX ENG SCNN1B MAT2A NKX2-5 SCNN1G TGFBR2 SMAD4 SCNN1A PRKG1 TET2 COL4A1 TBX20 MPL THPO MYBPC3 SLC2A10 ACTC1 ACTA2 CCR1 MYH6 STAT4 CTNNB1 ACVRL1 ENPP1 TP53 IL23R KRAS PTPN22 PIGA ACTG1 IL10 FAS GTF2IRD1 HTRA1 GTF2I CBS SMAD3 IKBKG FOXE3 ACTB PRTN3 ANGPTL6 RFC2 PIK3CA GATA6 ELN MYH11 GUCY1A1 CRELD1 IL12B ZMPSTE24 TGFB3 TGFBR3 GDF2 FBN1 MYLK TBL2 BRCC3 ERAP1 TLR4 ABCC6 APP HLA-DPA1 RNF213 SON COL3A1 UBAC2 NAGS THSD1 CTLA4 CALR BAZ1B LIMK1 HLA-B MFAP5 MEFV TGFBR1 LOX KLRC4 GATA4 MYH7 CITED2 IL12A BRAF HLA-DPB1 NR2F2 SH2B3 NOTCH3 SMARCAL1 TGFB2 IL12A-AS1 C4A PIK3C2A TLL1 LMNA HP_NEUROINFLAMMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROINFLAMMATION NOD2 TK2 MEFV HLA-B IL12A-AS1 ERAP1 TLR4 KLRC4 IL23R POLG IL10 UBAC2 C4A FAS IL12A CCR1 NLRP3 STAT4 HP_TUBE_FEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TUBE_FEEDING DCPS IQSEC1 NODAL PIGW PUF60 PGAP3 DLL1 LONP1 MBOAT7 PRPS1 TXN2 C12orf4 SPATA5 CARS2 DISP1 ABCD1 PTCH1 GRIN1 CLIP1 EPM2A TSEN15 TGIF1 SIX3 MBD5 KANSL1 ZMYND11 NDST1 NALCN FUS MAGEL2 ITCH MED23 SEPSECS TAOK1 CRBN SETBP1 MYT1L COQ2 CSNK2B FRRS1L CACNG2 PRSS12 ASH1L EP300 NACC1 CLTCL1 CRADD SMC1A SHH CAMK2B PDE10A PDSS2 DEAF1 FMN2 PIK3CD FGF8 GLI2 SNRPN WASHC4 RNF13 TRIP4 SLC45A1 GFM2 UNC80 FOXH1 BRSK2 TSEN2 PSAT1 SON STAG2 SIM1 CDON TSEN54 TRIO PIGV FBXO31 C2CD3 PIGL GRIK2 SARS1 ANAPC1 METTL23 GRM7 GAS1 BRAF EPB41L1 SIGMAR1 C12orf65 CDH15 ACSF3 DALRD3 KCNK9 MT-TE DCHS1 KIF1A KDM5B DOCK8 SYNGAP1 BLM FGFR1 UBTF YY1 GALC ZC3H14 DLK1 ZIC2 RAB11A MED12L STXBP1 NSUN2 PTCD3 TDGF1 RECQL4 PTPN23 PIGT CC2D1A PGAP2 CLTC COG5 GPT2 HNRNPK HNMT PSAP ALS2 FDFT1 HIVEP2 MED25 PNPT1 PPP3CA DYNC1H1 B3GALNT2 UGDH TRPM3 NHLRC1 TUSC3 PGAP1 SLC1A4 HECW2 CREBBP PDHA1 MAN1B1 SLC5A6 TNIK WAC CTCF MEG3 EZR EDC3 PIGY RTL1 DEGS1 LINS1 PLP1 LMAN2L NONO MFF GNPTAB DNM1L COL4A6 GRIN2B SATB2 ASPA KCNQ5 CAMK2A DMPK AIMP1 KIRREL3 FOXP3 ST3GAL3 SLC35A2 EEF1A2 COX8A TRAPPC9 WDR26 ADNP TOR1A DPM2 DYRK1A KLHL40 COL4A5 RALGAPA1 TSEN34 SPG11 AFF4 SET RSRC1 PPP2R1A PIGO CIC TECR CUX1 CHAMP1 TBCK TRMU PIGU KNSTRN PIGC TRAPPC12 TCF4 FAT4 PACS1 SPOP COL7A1 HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION VPS33B ANK1 IL12A GYPC KIF23 UGT1A1 CASK PGK1 ABCB11 SPTB NR1H4 RFX6 SPTA1 EPB42 SPIB VIPAS39 GPC1 SLC4A1 PRKCSH MMEL1 POMC PAFAH1B1 DGUOK SLCO1B3 PRF1 ADK PIEZO1 HK1 POLG2 RHAG ABCC2 OSTM1 SLC25A13 PFKM PKLR ATP8B1 GPX1 SLC17A5 IL12RB1 PEX19 ABCB4 SLC2A1 KLF1 IGF1 FBP1 FH GSR EPB41 POU2AF1 LIPT1 SLCO1B1 CPOX G6PD PKHD1 CPT2 GLRX5 KCNN4 LBR SEC63 AKR1D1 IRF5 TNPO3 TNFSF15 PAX8 HBB SC5D UBE2A ALDOB WDR35 TRMU LRP5 ODC1 MTTP AMACR HSD3B7 SLC30A10 HP_PRE_CAPILLARY_PULMONARY_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRE_CAPILLARY_PULMONARY_HYPERTENSION NOD2 PPCS STAT1 JAK2 FLNA NFIX MLX DLL4 COX6B1 ENG BMPR2 GJA1 NKX2-5 GBA HSPG2 SMAD9 CAV1 CCR6 KIAA0319L SMAD4 NOTCH1 ALMS1 HLA-DRB1 SFTPA2 CHST3 NFU1 IRF5 HBB TBX20 MPL THPO MUC5B MMACHC KCNK3 TCIRG1 MGP EOGT FOXF1 ACTC1 MT-ND1 FGFR1 VPS33A MYH6 NF1 MT-TF CITED2 MED25 TNFSF11 SLC29A3 KRT18 ACVRL1 ENPP1 RBPJ PIGA FIG4 MT-CO3 CACNA1D MT-TQ IKBKG CTCF MEG3 COL1A1 NKX2-1 MT-CO1 GATA6 RTL1 IL12B ZMPSTE24 PAM16 ACTA2 COLQ MT-TS2 GDF2 SFTPB BANF1 CLCN7 MT-ND5 FBN1 COX7B LIFR IDUA SLC37A4 COX5A EIF2AK4 ARHGAP31 ABCC6 COL1A2 SLC25A24 LIPA PIGN LIPT1 DOCK6 FOXP1 G6PC3 LAMB2 COX8A MT-ND6 COG1 CCN2 ABCD4 AFF4 KRAS PDSS1 TERT TBX4 VAC14 TLL1 HLA-B KRT8 SARS2 MT-TW MT-TL1 UBE2A LAMA2 MT-TH SCARB2 MT-ND4 SPECC1L GATA4 SNX10 BTNL2 MED12 NDUFB10 SFTPC DLK1 FGFR3 MT-CO2 ATP5F1A LMNA HP_MORTALITY_AGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORTALITY_AGING VPS33B CLIP2 PEX11B TUFM UBR1 RPS6KA3 SMPD4 PEX5 HESX1 GCSH FLNB SCYL2 REV3L NADK2 PMS2 LAMB3 LMNA LHX4 KRAS COG6 DSP APP CCDC22 NAXE FOXF1 ASXL1 RAB27A CALCRL PEX6 MRPS22 NDUFB11 PEX2 OCRL FAM20C ITGB4 PIP5K1C FAN1 ROBO1 PSMB8 MYL1 AMT HYLS1 GTF2IRD1 ETFB PLCB3 GTF2I NSDHL ABAT FXR1 SCO2 FKRP ATP5MD MRM2 TSEN54 SLC26A2 LMOD1 RNU4ATAC ESCO2 BRAT1 ARX RFC2 LAMA3 MSH6 PRPS1 PLEC SLC17A5 AARS2 EPCAM CST3 GPC3 ERCC2 MLH3 SNRPB EPG5 TBL2 GPR161 ALG14 TSPYL1 PEX26 ACTB DNM2 COX5A CEP55 WASHC5 PEX16 COL11A1 CLCF1 ERCC6 DNM1L PEX13 PSAP GBA LIPT1 GDF5 MUSK NDUFA2 DCX ERCC5 GATC PET100 NDUFAF3 SCN4A GLE1 IDUA CDON NEK8 LIMK1 GAD1 BOLA3 GRM7 PHGDH INTU COASY ACOX1 SUCLG1 MYH11 NFIX ALG1 LBR NADSYN1 SMOC1 GRIP1 PEX3 TMEM70 GLDC RET ATP7A MSH2 CRTAP CRLF1 STAT2 PEX14 COX10 ALPL ETFA HMGCL FLNA BCS1L PKHD1 OGDH LAMC2 PIGB PEX12 ASCL1 HSPG2 GNPTAB ABCB11 TGFBR2 GLUL NAXD PIGA EIF2AK3 NXN RNASEH2C PEX19 TRIP11 MADD VPS35L FGFR3 GPC4 CD96 FADD EXOC8 ITPA NRAS PQBP1 ETFDH ATRX HDAC6 PTH1R POLG2 HYOU1 OSTM1 PEX10 SIK1 MBTPS2 SMO MLH1 MTX2 SUOX DLL3 CENPF WDR11 TMEM260 PIK3CA PLXND1 ATAD3A PHOX2B LTC4S TYMP HTRA2 GLI3 SLC25A24 LIPA PMS1 ROR2 SLC9A6 TFAM ANTXR2 RINT1 POLG RNASEH2A FLI1 RARS2 COX8A DOLK TOR1A KLHL40 QRSL1 FARS2 ITGA6 BAZ1B GLB1 ELN STT3B ZMPSTE24 FREM2 AIMP1 SLC35D1 PTF1A SLC25A19 MYO5B ACTL6B COL2A1 RMND1 PEX1 MYLK BMPR1B PROKR2 EMG1 KLHL7 CNTN1 DPM2 TSFM NDUFB10 ERCC1 FRAS1 ACTG2 MESP2 RBM8A SEC31A HP_CHROMOSOME_BREAKAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOME_BREAKAGE PALB2 TRAF7 BRIP1 TERT AKT1 FANCD2 FMR1 FANCE FANCA NF2 SMARCE1 COX4I1 RNF168 FANCF PDGFB ERCC4 FANCI BRCA1 BAP1 SUFU FANCC BRCA2 PIK3CA FANCL SMARCB1 RAD50 BLM SMO HP_PROMINENT_COCCYX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_COCCYX COLEC11 TAF1 COLEC10 SH3PXD2B MASP1 TBX15 HP_FINGER_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_CLINODACTYLY ABL1 KDM1A CLIP2 UBR1 PUF60 BUB1B POLA1 DHPS FGFR3 SHANK3 WNT5A RB1 BRCA1 ZFPM2 KMT2A TBX1 CEP152 BPTF MLXIPL CREBBP TRPS1 LIG4 RBBP8 HDAC8 TBC1D24 GDF1 TBX15 CENPJ GTF2I FANCM BCOR NPR2 SEMA3E OFD1 HOXD13 SOS2 B3GLCT FGF10 TELO2 SRCAP TBL2 DLX3 IGF1 DEAF1 GDF5 GATA4 MAN1B1 ALX1 CEP55 XRCC2 SOS1 SPECC1L SMC1A CCNQ ABCC8 CDC6 ACVR1 GATA5 MAP3K7 MASP1 KCNK4 C12orf57 ORC1 TRIO LIMK1 XRCC4 EVC SALL1 CCDC8 BRAF CDT1 IGF2 CKAP2L PLK4 ODC1 MRAS CENPE FZD2 SLC26A2 RAD51 MBD5 SMC3 KIF7 SHH FGFR2 PCNT YWHAE GPC4 RBM8A TMEM216 TGDS EIF4A3 FANCD2 COG5 BMPR1B HMGA2 COG8 KLF13 KPTN CD96 ALX3 DYM CRKL BUB3 PKDCC CHRNA7 PIGS WDR19 PIGL WIPI2 PQBP1 HOXA11 RPL10 CTCF RAB23 MAPK1 KCNAB2 L1CAM DONSON KRAS PAFAH1B1 ERCC4 TFAP2B PIGH FLT4 MYCN EFNB1 AKT1 NONO RUNX2 NSUN2 AMMECR1 IHH USP7 OBSL1 KCNJ2 EVC2 GJA1 FANCC KCNJ11 FLNB BMP2 TRPV4 UBE3A RRAS TP63 PPP2R1A BMP4 KAT6B ELN STAG1 GABRD SPOP RIT1 TRIP13 CUL7 EMG1 UBE2T MACROH2A1 DPAGT1 ZC4H2 MAD2L2 TCTN3 KNSTRN RAD21 TRAPPC9 CSGALNACT1 PACS1 RERE RAB18 TCF4 CHSY1 HOXA13 REV3L IFT122 RRAS2 PHF21A SH3PXD2B NRAS RASA2 FGD1 ATRIP PIGN RNU4ATAC FLII XYLT1 SLX4 AMER1 ATR MAPK8IP3 WDR35 KAT8 BUB1 RAI1 LEMD3 GJA5 FANCB JAG1 SOX6 ZNF462 FAM149B1 GTF2IRD1 PITX1 VPS13B SLC9A7 NAA10 ARID1B PTEN CPLANE1 TRRAP RFC2 PALB2 PDE6D AFF2 MECOM NIN GPC3 ORC4 BCR SNRPB PIK3CD SNRPN A2ML1 FANCI KIAA0753 COL11A1 RAF1 PACS2 SETD5 DSP KDM6B TCF20 CNOT3 EXT2 RAD51C DVL3 NOG SLC2A10 SKI MCTP2 BRAT1 PTH1R FANCE IQSEC2 DVL1 NKX2-5 SATB2 MAF NEK1 SMOC1 ANKRD11 TRAIP CBL STAG2 MAP1B MED12 DLK1 YY1AP1 GMNN CNOT2 NIPBL RSPRY1 TWIST1 CUL4B SHOX GATA6 NXN LMBR1 H19 TBX5 EBP BRIP1 IFT43 PTPN11 ATRX NKX2-6 CANT1 MEG3 PRDM16 ESCO2 RTL1 TFAP2A CEP57 ORC6 WDR4 BLM FANCF PRKACB PLXND1 RNF216 NUP37 EP300 CHD7 BRCA2 DACT1 IFT52 ROR2 PNPLA6 HDAC4 BHLHA9 TBX4 BAZ1B CDC45 LMX1B LMNA FANCL PLAG1 PIEZO2 LZTR1 RFWD3 FANCG FANCA CDKN1C CITED2 HIC1 UBE3B HP_CLINODACTYLY_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_2ND_FINGER PIK3CD MED12 CSGALNACT1 CHSY1 KNSTRN HP_CLINODACTYLY_OF_THE_3RD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_3RD_FINGER PIK3CD DLK1 RTL1 PKDCC KNSTRN MEG3 HP_CLINODACTYLY_OF_THE_4TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_4TH_FINGER KCNJ11 ABCC8 PIK3CD SNRPN KNSTRN HP_CHORIORETINAL_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_HYPOPIGMENTATION MAGEL2 SLC25A15 SIM1 TSC1 TSC2 HP_ONYCHOGRYPOSIS_OF_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL DVL3 KRT6A DVL1 COL7A1 WNT5A KRT16 KRT17 KRT6B FZD2 HP_DECREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADIPOSE_TISSUE GTF2H5 SOX18 KCNJ6 PPARG ERCC6 IGF1R ERCC3 RNF113A FH LMNA ZMPSTE24 SLC25A24 NAA10 POLR3A INSR BSCL2 FBN1 CAV1 ATP6V1E1 PLIN1 ERCC2 AGPAT2 SLC2A2 ERCC8 FOS MPLKIP KCNK9 GTF2E2 SKI PSMB8 PTF1A CIDEC TOP3A RBM28 CAVIN1 TGFB1 LMNB2 BLM TARS1 ERCC4 LIPE HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY TP53 WDR35 LRP5 EXT2 COMP COL2A1 PUF60 CDH11 SOX4 ARMC9 EVC XYLT1 PEX5 WNT5A IFT122 PRMT7 SF3B4 RMRP KCNH1 MAP3K7 BRCA1 MGP KCNA1 GPC6 EOGT B9D1 NOTCH1 ARCN1 KANSL1 PIGQ CEP55 TRPS1 FGFR1 GABRG2 FGFR2 LIG4 SIK1 MAGEL2 B3GALT6 KIF22 HDAC8 GLI3 SNRPN TBX15 IFT172 NSD2 DHCR7 ASXL1 FANCM GPX4 COL10A1 KATNIP TNNI2 CDT1 ACTL6A GNPTG RNU4ATAC KCNJ8 KIAA0586 NDN RPGRIP1L DYNC2I1 FN1 COL1A1 FIBP FUCA1 EP300 GLI1 B3GALNT2 OFD1 HOXD13 TMEM107 ROR2 INPPL1 PDE4D FBN1 SHOX GPC3 ZMPSTE24 GFM2 CIBAR1 GLB1 XRCC2 GP1BB LMX1B NELFA TRPV4 MUSK COL1A2 TMEM237 HERC2 TBXAS1 DYNC2I2 HOXD10 MKS1 COG4 MASP1 IHH NF1 ORC1 NEK8 VAC14 OBSL1 GUSB GDF5 RELN MYH3 P3H1 MSL3 WNT10B SCN1B CCDC8 AHI1 MET GABRD GMNN LBR NPAP1 ENPP1 SIL1 RAD51 SMC3 KIF7 SNORD116-1 WRN PLOD2 TRPV6 IGF1R POMK FKBP10 RECQL4 HSPG2 BPNT2 RBM8A TMEM216 EIF4A3 KMT2E FANCD2 COMT DYNC2H1 MKKS MKRN3 SNORD115-1 WNT7A RTL1 MED25 LMBR1 TCTN1 DYM PSAP CRKL TCTN2 RUNX2 EIF2AK3 HDAC6 PIGS GLA PTH1R TNNT3 SMARCD1 NOG TNFRSF11A RAB23 PEX2 PIK3CA DONSON DYNC2LI1 EXOC6B ZBTB20 GRIP1 C12orf57 B3GLCT SLC34A3 ERCC5 GDF6 RBPJ GNAS AKT1 ZSWIM6 TRAPPC2 RBM10 NSUN2 AMMECR1 MYBPC1 CANT1 OCA2 AEBP1 KDELR2 CEP120 BMP2 ATP7A KCNJ2 POMGNT1 DVL1 EVC2 RB1 GJA1 FANCC FLNB PSMD12 WDR81 ARID1A B4GALT7 DLK1 PIBF1 PRKAR1A ZEB2 TRIP11 VDR GATA4 FLNA SLC39A13 TMEM38B IFT80 DAG1 WDR19 DDRGK1 SC5D EMG1 DCHS1 SMARCC2 SLC35D1 STXBP1 GABBR2 MAD2L2 AIFM1 CCN6 FGF9 TBL1XR1 AGPS LMNA WDFY3 PHYH RERE POC1A SCN9A ALOX12B FKTN ATP6AP2 TBX3 SBDS SERPINF1 IL7R HOXA13 COX4I1 LTBP3 SUMF1 PIGV CD96 NALCN APC USP9X MYT1L UFD1 KIF1A PIGL CYP27B1 MAPK1 SLX4 AMER1 NANS TRMT1 FBXO11 ACTL6B SMC1A NUP188 MED13 FAM149B1 DMP1 TRRAP PALB2 PRG4 TGFB1 PDE6D CRPPA SEMA3E RPS6KA3 ADAMTSL1 EZH2 ORC4 DYRK1A ERCC2 BCR ATR ORC6 DDX6 KIAA0753 STX1B TMEM138 WNK1 PPIB ERCC6 ZMIZ1 SMARCE1 TBCE LRP4 GHR BBS2 CEP41 COL9A1 BHLHA9 NEPRO FANCE CHST3 ACVR1 NEUROD2 SCN2A KCNN3 CPLANE1 SATB2 MAF NEK1 CEP290 INPP5K FAM50A JMJD1C CRTAP BMPR1B FMR1 DLL4 SPART RSPRY1 PCYT1A ABCA12 DDX59 CUL4B TMEM231 EXTL3 MMP2 EBP PLEKHM1 TRIM8 PORCN ALOXE3 CC2D2A PLAA SOX11 SVBP SLC26A2 CCDC28B ZC4H2 NIPBL ACAN SON CUL7 ARL6IP6 CCBE1 PIEZO2 PRDM16 ESCO2 MTX2 NKX3-2 ADAT3 FANCF MMP14 PRKACB RLIM ZNF423 EFL1 CHD7 ARVCF DACT1 WDPCP RINT1 FLI1 CDC6 FGFR3 HDAC4 ZBTB16 TOR1A CASK AFF4 ABCC9 CSPP1 PPP2R3C NFIX CDC45 SCN1A ARX FANCL PHF6 NGLY1 SALL1 MYCN SH3PXD2B TCTN3 POMGNT2 IFNGR1 KLHL7 CLCN7 NPR2 TBX4 TP63 TRAPPC4 PHEX SALL4 MMP13 HTT COL11A1 SMPD4 FBN2 TBX1 SCYL2 ARID2 TENT5A IFT140 TPM2 RPGRIP1 LARGE1 MBD5 NTNG1 FBXW11 CYP2R1 CPLX1 KIF14 SEC24C ADAMTS2 TBC1D24 FBLN1 SETBP1 COL9A2 HBA2 COL9A3 MATN3 RIPK4 CLTCL1 ANKH NPHP3 TTC21B TELO2 MIR140 DOCK3 PCDH19 PSAT1 RAG2 SPECC1L SLC25A22 MAFB INPP5E POR ARHGAP31 DLX5 HADHB CREBBP CTSK COL3A1 HINT1 ADA POMT2 PWAR1 C2CD3 RET TCF20 CCDC47 UBE2A INTU SHH ADAMTSL2 ERCC1 SMARCAL1 ARL6 SOX9 NOTCH2 IFT52 FZD2 CERT1 CEP104 CDKL5 MEGF8 CHRNG USP7 PCNT PAPSS2 DPF2 GPC4 LETM1 DNMT3A IFIH1 MECP2 RAG1 POLR3A COG8 MEG3 COL4A1 ACTB RETREG1 CHST11 B3GAT3 BMP4 SRP54 TREX1 CTCF KCNAB2 HBA1 DMXL2 ERCC4 TFAP2B SRY CAMK2G GTF2E2 GNAO1 IDUA SLC12A2 MAN2B1 FGD1 TCIRG1 ALG12 ADGRV1 SLC35A2 KAT6B EXT1 WDR26 TGFB3 PIK3C2A CLCN5 EXOC7 GABRA1 FKRP COG1 KIAA0825 UBE2T SLC10A7 PTEN RAD21 SMARCB1 CSGALNACT1 TRAF3IP1 RAB33B HSPA9 TCF4 CHSY1 MGAT2 GORAB SMO TONSL ALMS1 ATP6V0A2 CTC1 HCN1 ARID1B MAPK8IP3 UFSP2 RXYLT1 FANCB MMP9 HYLS1 BMPR1A CFAP410 RREB1 DNAJC21 TANC2 RPL13 SGMS2 SETD5 IL2RG PTHLH HIRA POMT1 POLR1A PEX1 PNKP DDR2 ASAH1 KDM5C CENPE RAB3GAP2 LIFR FANCI SMAD4 TMEM67 PITX1 PIGN SIM1 SMARCA4 ARL13B RAD51C DVL3 TGDS CHUK FAT4 SLC2A10 SKI GLE1 NUP88 SMOC1 PPM1D ANAPC1 ATRX PHGDH PLOD3 HADHA DHCR24 TUBB3 TBX22 ECEL1 CHD4 VPS13B ALPL MYH8 TAPT1 SCARF2 RASA1 NXN PIGP VPS35L BBS1 BRIP1 EED SMARCA2 GALNS SLC29A3 SAMD9 LAS1L FIG4 BGN B9D2 FBXL4 KMT2A WASF1 SLC35C1 GALNT2 HUWE1 GBA CTBP1 BPTF DOK7 SHROOM4 BRCA2 PWRN1 MADD KAT6A ARL3 FGFRL1 DOCK6 DOLK PEX7 TWIST1 BCORL1 EFNB1 SYT1 ADAMTS10 HPGD POP1 RFWD3 FANCG FANCA CHEK2 COL11A2 B4GAT1 DCLRE1C UBE3B HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY CLIP2 EXT2 COMP SALL4 LRP5 MMP13 GJA5 HHAT FANCE ATP7A XYLT1 WNT5A AGA IFT122 SF3B4 FGFR3 NOG SLX4 ABCC9 BRCA1 BCOR FANCI MEIS2 LMBR1 GDF5 ZIC1 GPC6 EOGT MLXIPL NOTCH1 SUMF1 TRPS1 FGFR1 FGFR2 LIG4 B3GALT6 GJA8 FBXW11 CPLX1 KIF22 HDAC8 GLI3 RBPJ TBX15 FBLN1 RPS19 GTF2I SPARC NSD2 SETBP1 PTEN ASXL1 COL9A2 FANCM HFE GPX4 MMP9 COL10A1 COL9A3 TNNI2 ACTL6A RNU4ATAC KIAA0586 FANCB RETREG1 TBX22 FANCC GNAS EP300 PDE4D OFD1 BPTF KCNH1 HOXD13 SOS2 ROR2 B3GLCT PDE3A MECOM FGF10 TBL2 DHODH OTUD6B FBN1 SHOX DOCK3 GPC3 DDR2 ZMPSTE24 GLB1 XRCC2 SOS1 SMC1A NXN RFWD3 SETD5 MAFB POR ARHGAP31 ACAN MAP3K7 BMPR1B PYCR2 CREBBP COG4 RAD51C MASP1 COL3A1 IHH TRPV4 ALX4 SNRPN TRIO VAC14 PTDSS1 LIMK1 COL2A1 MMP14 P3H1 SALL1 CLCN7 CCDC8 NTNG1 TCF20 SMARCA2 SNIP1 SHH ADAMTSL2 ERCC1 NFIX NOTCH2 TCF12 COL5A1 IFT52 MRAS DHCR7 SIL1 FKBP10 LRP4 RAD51 DVL3 SMC3 MEGF8 CHRNG RECQL4 PCNT MAF GNPTAB GPC4 BPNT2 TBX5 RBM8A PEX7 GNAS-AS1 TMEM216 USP9X EIF4A3 KMT2E KL FANCD2 IFIH1 RLIM DYNC2H1 LETM1 MKKS POLR3A FLNA BHLHA9 EED WNT7A TONSL CD96 NDN DYM FBXL3 IFT80 RBM10 RUNX2 COLEC10 B3GAT3 PSMD12 PIGS HPGD PQBP1 HOXA11 COLEC11 MAP2K1 DONSON KRAS EXOC6B CTSC MED12 LONP1 PTCH1 ERCC4 NHS SRY AKT1 NONO MSX2 STX16 SLC25A24 NSUN2 AMMECR1 CANT1 EXOSC2 TRIP11 BMP2 OBSL1 ALG12 KAT6B KCNJ2 DVL1 CHN1 EXT1 FLNB B4GALT7 RRAS PRKAR1A ELN PDGFRB GATA4 SLC39A13 RIT1 LMNA TWIST1 PRMT7 UBE2T MACROH2A1 DCHS1 CCNQ FGF9 MAD2L2 CWC27 PIGT TCTN3 AGPS KNSTRN WDFY3 RAD21 ZNF141 FGF23 SCN9A INPPL1 PACS1 RAB33B POC1A TBX3 RPS6KA3 CHSY1 SMO HOXA13 REV3L LTBP3 RRAS2 SH3PXD2B NRAS RASA2 FZD2 EXTL3 NALCN APC COL5A2 RAB23 MYT1L SLC26A2 KIF1A ARID1B SUZ12 TRMT1 ACTL6B SRCAP KIF7 PIEZO2 COL11A1 MED13 BMPR1A INTU FAM149B1 GTF2IRD1 TWIST2 PITX1 COL1A1 BMP1 TANC2 ESCO2 CPLANE1 RFC2 PALB2 PRG4 PTHLH TGFB1 PDE6D ZIC3 SEMA3E GSC EZH2 CDKL5 ATR PIK3CD RAB3GAP2 DDX6 A2ML1 RNF13 RSPRY1 KIAA0753 RMRP RAF1 CHD7 SUFU LBR MMP2 FAT4 FGF16 SMOC1 COL9A1 ANAPC1 PTH1R COL27A1 IFT81 CYP26B1 NEPRO CHST3 ACVR1 SATB2 MYH3 NEK1 INPP5K CBL PTCH2 ATL3 ZMIZ1 DLK1 MAP2K2 VPS13B ERGIC1 DLL4 TAPT1 IFITM5 NIPBL SCARF2 FANCA PCYT1A WNK1 RSPO2 HDAC4 MYSM1 VPS35L BRIP1 BRAF PORCN RPL26 JAG1 GALNS COL11A2 SAMD9 SVBP PTPN11 B2M SKI FIG4 BGN MEG3 CUL7 MAGEL2 KMT2A RTL1 DNMT3A MTX2 TMEM67 CTSK FERMT1 BANF1 FANCF PLXND1 GNPAT CTBP1 SNRPB BRCA2 DACT1 FGFRL1 DOCK6 G6PC3 ADNP GUSB ZBTB16 AFF4 CSPP1 BCORL1 BAZ1B LMX1B NSD1 PUF60 FANCL PRKD1 ADAMTS10 TPM2 LZTR1 FANCG WDR19 PHYH TNNT3 NPR2 GATAD2B TP63 TRAPPC4 HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY WNT7A SALL4 TBX3 TAPT1 MMP13 GLI3 FGFR2 NIPBL PCNT SCARF2 RECQL4 SF3B4 FLNB SLX4 BRCA1 CHST3 FANCI SHOX APC EIF4A3 FANCD2 DYNC2H1 TRIP11 TBX5 VPS35L BRIP1 RPL26 EXT1 JAG1 FANCB COL11A1 SAMD9 RBM10 B2M RPS19 FANCM CUL7 DHODH POR ESCO2 PALB2 DONSON EXOC6B ERCC4 SEMA3E EXT2 IHH TMEM67 PRKAR1A FANCF HOXA11 FGF10 ATR PDE4D RAB3GAP2 MAFB XRCC2 OBSL1 ALG12 BRCA2 RFWD3 CHD7 LRP4 FANCC CHN1 RAD51C ZBTB16 AFF4 GDF5 B3GALT6 LMX1B COL2A1 P3H1 IFT81 BMPR1B FANCL FLNA CCDC8 FANCE UBE2T CCNQ FANCG FANCA FGFR3 MAD2L2 PIGT RAD51 NPR2 FGF23 HP_HYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPITUITARISM NODAL RRM2B ANOS1 GLI3 PROP1 PRKAR1A DLL1 SMARCE1 ALMS1 FGF17 FANCI SIX3 KMT2A DISP1 PTCH1 PROKR2 SBDS FLNB THOC2 CDH23 TGIF1 POU1F1 KANSL1 IL17RD FEZF1 FARSA MAGEL2 CTNNB1 SNRPN CDKN1C SRD5A3 ABCC8 GHRHR PDE4D SOX3 NDN TBCK GNAS RBM28 RRAS2 BAP1 MT-ATP8 SEMA3E ZNF148 SMC1A SMARCB1 STAT5B SHH SLC7A7 MT-TL1 LHX4 BRCC3 FGF8 GLI2 NFKB2 GPR101 FOXH1 LHX3 GAS1 PDGFB ADNP RFWD3 HESX1 CHD7 MEN1 STAG2 HERC2 GH1 POU3F4 CDON PWAR1 SRP54 WASHC5 AKT1 ADAT3 GRM7 BTK TBX2 GMNN PITX2 HS6ST1 KISS1R NPAP1 FGFR1 CCDC141 YY1 SNORD116-1 ZIC2 SMO VPS13B TDGF1 TRAF7 TERT GMPPA DCC AIP TP63 EIF2S3 TRAPPC11 SIN3A SEMA3A LEP STX16 IARS2 PNPLA6 GPC1 PREPL MKRN3 SNORD115-1 MADD MARS2 POMC ALX3 RNPC3 HBB SLC29A3 DNAJC21 WDR11 SUFU POLR3A POLE OCA2 KATNIP DCAF17 B3GLCT TMEM67 CEP57 WDR4 NSMF FSHB TBCE ZSWIM6 AAAS DMPK NF2 UCP2 EFL1 PWRN1 SOX10 LEPR KCNJ11 ACP5 TBX19 APOA5 DYRK1A TACR3 AFF4 BMP4 EDA2R FLRT3 DUSP6 FOXA2 SPRY4 BRAF IGF2 NDNF PROK2 PIK3CA OTX2 EDA GHSR TP53 PCSK1 ARNT2 TMCO1 HP_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION TXN2 TRIM2 CTDP1 SETX TTC19 IGHMBP2 TFG FLVCR1 SERPING1 LAMA2 NAGA APTX SH3TC2 SEPTIN9 GJB1 LRSAM1 SLC25A21 GDAP1 DNM2 HP_IRREGULAR_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_DENTITION RIN2 FAT4 NFIX TMEM231 DCHS1 HP_ANTEVERTED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTEVERTED_EARS HMGB3 FGF3 KANSL1 CACNA1G SYNGAP1 RPL10 TTI2 PBX1 KAT6A BCOR HP_HAPPY_DEMEANOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAPPY_DEMEANOR SNRPN SATB2 TCF4 TASP1 OCA2 ZEB2 WDR26 DYRK1A HDAC8 ZSWIM6 TBC1D23 UBE3A ATP10A SLC9A6 ADSL RAB11B HP_TOE_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_WALKING KMT2B VAMP1 FBN1 DYSF FKRP SLC25A1 TMEM43 COL12A1 ARSA GFM2 TPM3 LMNA SNAP25 COL13A1 KY ATL1 HADHB CAPN3 CYP2U1 TPM2 ALS2 SPG11 FKTN GJB1 SLC5A7 LRSAM1 EMD FUS MYO9A SYNE2 INPP5K SGCA ALDH18A1 CHAT SIGMAR1 B4GALNT1 POMT1 PANK2 BICD2 AGRN HADHA MYPN FHL1 DMD PNPLA8 SYT2 SYNE1 AIFM1 TLK2 MORC2 PSAP SLC18A3 COASY CRPPA HP_ABNORMAL_CIRCULATING_RENIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_RENIN CYP11B2 NR3C2 CYP11B1 CYP11A1 HSD3B2 HSD11B2 CACNA1D SLC12A1 MAGED2 SCNN1A KCNJ5 KCNJ10 KCNJ1 CLCNKB CYP17A1 SCNN1B SCNN1G CASR INSR AVPR2 SLC12A3 HP_ABNORMAL_CIRCULATING_ALDOSTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ALDOSTERONE MEN1 SCNN1G SCNN1A CYP17A1 SCNN1B CDKN2C CDKN1B CYP11B1 CDKN1A CDKN2B HP_ABNORMAL_PROLACTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROLACTIN_LEVEL HESX1 GNAS LHX4 TRAF7 TERT AKT1 GLI3 FOXA2 PROP1 PRKAR1A NF2 SMARCE1 PDGFB GLI2 BAP1 SUFU RBM28 PIK3CA OTX2 POU1F1 SMARCB1 SMO SOX3 HP_NEOPLASM_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_INNER_EAR KARS1 PRKAR1A NF2 VHL HRAS HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE NECTIN1 WDR26 TP63 IRF6 MSX1 HP_ABNORMAL_VITAMIN_B12_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITAMIN_B12_LEVEL CUBN MTR FAS MTHFD1 PRKCD MMAB MMACHC MMAA RASGRP1 RNF13 GRM7 LMBRD1 ABCD4 MTRR MMADHC GUCY2C CASP10 PRDX1 AMN FASLG HP_ABNORMAL_SWEAT_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_HOMEOSTASIS TGFB1 CFTR SCNN1A FCGR2A SCNN1B FUCA1 HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY LYST MPZ SBF2 CTDP1 REEP1 PMP22 ABHD12 ARSA ERCC3 SUCLA2 GDAP1 BSCL2 WNK1 SETX SLC25A15 LTBP3 FXN VCP FBLN5 PDK3 PSAP KIF1A NDRG1 LITAF PRPS1 GJB1 SOX10 RAI1 PNPT1 FGD4 PLP1 LAMA2 RETREG1 SBF1 RAB7A SORD SAMD9L HK1 CCT5 GJC2 IGHMBP2 NEFL NEU1 FLVCR1 DEGS1 MATR3 JPH1 DCAF8 GARS1 SACS NALCN SIGMAR1 FBXO38 IDUA KIF1B MFF HSD17B4 TYMP EGR2 ERCC6 PRX LMNA DNM2 GFM2 ATXN10 ARHGEF10 GALC FAM126A ATXN1 FBN1 PEX6 FIG4 PTRH2 RRM2B LRSAM1 ERCC8 HSPB1 MTMR2 SLC12A6 PNKP DYNC1H1 DHX16 NGLY1 NOTCH2NLC PLEKHG5 AIFM1 SPTLC1 NFASC POLG MFN2 C12orf65 HPDL OPA1 PLA2G6 MYH14 SH3TC2 TPI1 SCN9A AARS1 MORC2 MED25 HP_ABNORMAL_SERUM_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_IRON_CONCENTRATION HAMP KIF23 CARD9 STEAP3 FOXP1 BMP2 TRNT1 HJV CP HFE SKIV2L TFR2 BCS1L COL7A1 PKLR TTC37 HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY EGR2 MPZ SBF2 CTDP1 REEP1 PMP22 FXN GDAP1 CCT5 PRX LMNA BSCL2 SETX FAM126A ATXN1 FIG4 PTRH2 RRM2B LITAF GJB1 LRSAM1 PRPS1 HSPB1 MTMR2 FGD4 SLC12A6 PNKP DYNC1H1 RAB7A SORD NOTCH2NLC PLEKHG5 HK1 POLG MFN2 GJC2 NEFL DEGS1 JPH1 HPDL DCAF8 GARS1 SACS SH3TC2 NALCN SIGMAR1 AARS1 MORC2 MED25 FBXO38 KIF1B TYMP HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY ATXN1 C12orf65 SLC12A6 PMP22 FLVCR1 KIF1A RETREG1 HPDL NGLY1 PTRH2 SACS RRM2B NOTCH2NLC WNK1 SCN9A SPTLC1 FXN POLG MFN2 TYMP HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION SLC7A7 PRF1 LYST BCS1L SLC40A1 STXBP2 HAMP SLC4A1 IFNG PIEZO1 GFER PUS1 FTL HFE SLC25A38 PKLR STX11 CPOX STEAP3 XIAP BMP2 FTH1 HBB HJV CP KCNN4 SLC30A10 GLRX5 HAVCR2 TFR2 STAT2 NLRC4 ITK HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION HBB STEAP3 GLRX5 BCS1L CP PIGA HP_ABNORMAL_TRANSFERRIN_SATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRANSFERRIN_SATURATION STEAP3 SLC30A10 HFE BCS1L HAMP PKLR HJV HP_DEGENERATION_OF_THE_STRIATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_STRIATUM HTT RNASEH2B ADAR SAMHD1 RNASEH2C ATXN3 PDE8B RNASEH2A TREX1 IFIH1 SLC2A3 HP_CORTICAL_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_MYOCLONUS PGM3 TNRC6A CASR RAPGEF2 GNA11 HP_ACNE_INVERSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE_INVERSA PSENEN KDF1 HYOU1 NCSTN MEFV PSEN1 HP_ELEVATED_URINARY_CARBOXYLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_CARBOXYLIC_ACID UROC1 CPOX HPD ACADM KIF1B HMBS ALDH5A1 MVK OXCT1 NDUFB10 TAT RET PPOX HP_ABNORMAL_SPACED_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPACED_INCISORS DNMT3A STAG1 ANKRD11 CHSY1 ATRX GATAD2B ALX3 TUBGCP2 DOCK7 HP_GENERALIZED_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOPOROSIS COL1A1 STAT1 GCM2 MEN1 TENT5A LMNA MMP14 CBS SP7 ZBTB20 COL2A1 B3GAT3 CHST3 CDC73 COL1A2 HP_ORTHOKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOKERATOSIS DSG1 LIPN CARD14 LORICRIN CYP4F22 KDF1 FLG2 CSTA CLDN1 WNT10A AAGAB HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY TRIP11 B3GLCT EXT2 ERCC6 BMPER MBTPS2 FIG4 RSPRY1 BGN PTH1R PCNT FGFR2 POR EXT1 TRPV4 ATP7A IDUA VAC14 ERCC8 HP_ABNORMALITY_OF_THE_PERIOSTEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIOSTEUM IL1RN KL SLCO2A1 GALNT3 FGFR2 COL1A1 HP_ABNORMALITY_OF_HAIR_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_GROWTH KRT81 RNF113A GJA1 KRT86 DSG4 SOX11 SHOC2 SOX4 RPL21 CST6 TP63 BRAF KRT71 TRPS1 EGFR IFT122 DPF2 EDAR SMARCD1 EDARADD ARID2 SMARCC2 GJB6 SMARCE1 KRT83 KRT74 KRAS KRT25 LIPH LPAR6 MAP2K1 ARID1B SMARCA4 ADAM17 SMARCB1 PPP1CB ARID1A CYP11B1 MAP2K2 GTF2E2 HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE GMPPB DMPK POMT2 LARGE1 FKRP POMT1 HP_MACROTHROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTHROMBOCYTOPENIA PRKACG ITGB3 GP9 GATA1 SLC35A1 GP1BB TUBB1 GP1BA ITGA2B HP_MACULOPAPULAR_EXANTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULOPAPULAR_EXANTHEMA SLC4A1 SPTA1 EPB42 ANK1 BTNL2 SPTB NLRP3 HLA-DRB1 TNFRSF1A HP_OSTEOCHONDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOCHONDROSIS ACTB FGFR1 DYRK1A ACAN SMAD3 KRAS ORC1 ACTG1 HP_SCALING_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCALING_SKIN TGM1 IL7R TGM5 MBTPS2 ELOVL4 CDSN OSMR KRT10 EGFR MPDU1 RNF168 PKP1 RASA1 LMNA SAMHD1 CSTA KRT1 ZMPSTE24 CHST8 CARMIL2 LRBA CASP14 IL2RA ADAM17 DCAF17 KIF11 CARD14 CAST SULT2B1 PPP2R3C HP_INCREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEAD_CIRCUMFERENCE APC2 GRIA3 WDR35 KDM1A IFT43 NODAL PIGW HES7 ACER3 MED12 XYLT1 CHD3 STRADA WNT5A TNFRSF11B SPINT2 KIAA1109 SUZ12 DMD SHANK3 DLK1 GDI1 KCNJ1 ERF IGBP1 BICD2 DISP1 FGFR3 DPYD CCDC22 MTOR FGFR1 LARGE1 FMR1 SIX3 PEX6 TCF12 KANSL1 IDS GNAQ AGGF1 ZBTB24 OFD1 PPP2R5D PAK1 SMARCB1 AKT1 FBXW11 PEX2 PIK3R2 NSD1 RAC1 KRAS ARHGEF6 WDR81 CDKN1C NEU1 PTEN USF3 TNFRSF11A GNAI3 COL2A1 ACTL6A KCNJ8 MYF6 SEC23A ANK3 FIBP KIF7 HEPACAM NFIA CHD1 ANKH B3GALNT2 AP1S2 SMC1A SHH B3GLCT INPPL1 DOCK3 TMEM67 FAM111A GPC3 PEX5 SNX14 PEX26 PIK3CA INPP5E UPF3B PEX13 ALKBH8 DEAF1 NXN EIF2B2 DYNC2H1 POLE ACAN DYNC2I2 IQSEC2 MITF IHH NF1 AKT3 CDON C12orf57 DHCR24 POMT2 PEX19 HRAS EIF2B3 OBSL1 PTDSS1 SIM1 ASPA PTCH1 SHPK DLL1 MTM1 PEX1 GAS1 CLCN7 NTNG1 TCF20 BRAF UBE2A IGF2 NFIB EXT2 ARL6 LBR BIN1 HUWE1 YME1L1 ODC1 SOX9 PEX3 FZD2 SNX10 SUFU CAMTA1 GALC DVL3 ZIC2 PEX14 DPH1 CCND2 MSX2 RPGRIP1L TDGF1 PLCB4 SEC23B USP7 POMK MOCS1 GPC4 NFIX HDAC6 PGAP2 TGIF1 PIGA PAK3 SPRED1 LRP5 KMT2E DNMT3A TMEM94 POLR3A CACNA1E SETD1A MEG3 EED PEX11B MESP2 TBC1D7 PSAP MECP2 RTL1 COL4A1 KPTN ETFDH PKDCC ERMARD L1CAM NLRP3 AGTR2 SOS1 PEX10 RIT1 CNKSR2 MAP2K1 FGF8 RIPPLY2 ZBTB20 SMO D2HGDH NONO CAMK2G DLL3 HSD17B4 SETD2 IDUA RUNX2 SLC2A1 MLC1 AMER1 ZIC1 MAN2B1 ZNF41 TCIRG1 TRIP11 SLC25A1 HMGA2 BMP2 B4GALT1 DICER1 ACADM SLC9A7 POMGNT1 DVL1 FRMPD4 BRWD3 DAG1 PSMD12 UBE3A B4GALT7 GLI2 OPHN1 CXorf56 NOTCH2 DYNC2I1 ZDHHC9 SDHB SLC35D1 IFT80 FKRP SEC24D H1-4 NRAS MACROH2A1 SOST TBCK GABBR2 SLC29A3 CWC27 PIGT FTSJ1 HCFC1 WDFY3 PPP1R12A ASXL2 CSGALNACT1 TMCO1 RNF135 POC1A LMNA FKTN TET3 NDUFS4 APC SYN1 GLI3 EIF2B1 PGAP3 MGAT2 TONSL ZNF469 SUMF1 CEP120 PHF21A SH2B1 SIX2 MYMK MTMR14 GCDH CRADD DOCK6 MYT1L TRMT1 ACTL6B RXYLT1 DIS3L2 TNFSF11 HEXB THRA ITCH ACADVL ADK MED13 BMPR1A ETFB RPS6KA3 TBX6 ZSWIM6 PITX1 DNMT3B MOCS2 TANC2 KLLN RYR1 POMT1 AFF2 CRPPA DLG3 EZH2 KDM5C FIG4 PIGN ADGRG1 TRIM37 DDX6 LRP2 WASHC5 SMAD4 TMEM216 SDHD SON FOXP1 STAG2 PTHLH USP9X HOXD13 LRP4 CDH2 SLC2A10 NDUFAF3 EML1 PIGV GAD1 RAB39B PIGL SHOC2 IFT81 DNM2 FAM149B1 EDN1 ACSL4 ROR2 KIF22 TUBB3 FOXH1 PTCH2 ZMIZ1 CHD4 MAP2K2 ETFA MYH8 PPP2CA GFAP CC2D2A TBX15 PEX12 ZBTB42 TBL1X ABCC9 ZNF81 MAB21L2 CUL4B EIF2B4 H19 RAF1 VPS35L CCNK SYP RNF125 BBS1 MID2 SVBP BGN FBN1 SLC26A2 ZNF711 CHRNA7 CCDC28B EIF2B5 HERC1 PIGY ZMPSTE24 PEX16 CLCN4 CSF1R RERE SDHC PPP1CB NKX3-2 ALG13 CDCA7 GJA1 SATB2 PCGF2 CHD8 RLIM FH PTCHD1 BPTF TSPAN7 MPDZ TWIST1 FLI1 SERPINH1 PLG HDAC4 GUSB USP27X ARX PDSS1 PIGO BCORL1 PHF6 PLAG1 LAMB1 ANTXR2 POP1 TRIO L2HGDH FGFR2 IL1RAPL1 LFNG POMGNT2 B4GAT1 TRAPPC4 ARSB CNTNAP2 HELLS HP_DECREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HEAD_CIRCUMFERENCE CLIP2 NODAL NFIX PDHX UNC80 GJA5 WDR62 FKRP CDH11 SOX4 HES7 FSHR MCOLN1 STT3A ERCC3 AP4M1 DLL1 SF3B4 QRICH1 HHAT SHANK3 SLC9A6 BRCA1 ZIC1 SLC1A2 C12orf4 SPATA5 SASS6 KCNA1 GRIN1 TUBB CYFIP2 PEX6 PHACTR1 ARCN1 KANSL1 CEP55 POGZ SIK1 GJA8 TBC1D20 IQSEC1 RAC1 SEPSECS ABCC8 DYM NSD2 DHCR7 ASXL1 CTSD NSUN2 ACTL6A RNU4ATAC ARX WDR37 TANGO2 PIGP B3GALNT2 CEP85L KCNH1 AP1S2 TMEM107 PALB2 BRF1 DGCR8 GABRA2 MAP11 CDON PEX5 COX7B DEAF1 WASHC4 PAFAH1B1 PEX26 SLC45A1 GFM2 XRCC2 GP1BB BRSK2 LMX1B NELFA TXN2 PYCR2 ERCC5 SDHA CARS1 GOT2 HAAO NDUFA1 TTI2 POMT1 SATB2 ERCC8 NBN ASPA CLPB PTCH1 SLC20A2 RELN RNF13 GRM7 MBTPS2 SCN1B TOP3A KCNMA1 NFASC TRPS1 CKAP2L COG7 TSEN34 TANC2 NARS2 POLR1B FGF12 GMNN LAGE3 TMEM70 CARS2 HPDL RAD51 ZC3H14 YWHAG SMC3 SEMA5A RBBP8 STXBP1 HMGCL GRIN2A KIF1C CENPT NDUFAF1 IGF1R POMK DIAPH1 HSPG2 MOCS1 ADSL TUBB3 SIN3A SIX6 CHMP1A KMT2E FANCD2 KCNB1 RLIM RHOBTB2 SLC30A10 TUBGCP6 GPT2 MED25 MCPH1 TECPR2 CRKL SERAC1 BUB3 EIF2AK3 SYNGAP1 FLCN TDGF1 PIGS NCAPD2 DLAT TRIP13 UBE3A MAN1B1 AP4S1 RPL10 EDC3 MPC1 ACBD5 DONSON TRAIP B3GLCT GLI2 AP4B1 EHMT1 DCX TAT RBPJ TRAK1 GTF2H5 UBE3B PGAP2 TRAPPC9 KCNT1 KIRREL3 HACE1 HDAC8 ST3GAL3 TAF1 KCNJ2 POMGNT1 KCNJ11 GABRA5 EEF1A2 ACSL4 TBX1 CHN1 SCN3A ASNS KMT2D DDX3X PSMD12 MDH1 SET COG5 ARID1A DLD GEMIN4 ZEB2 RNF113A TAF13 COG4 FGFR1 PRMT7 DAG1 CIT HNRNPK RPL5 DPAGT1 NSD1 ERCC4 HCCS GABBR2 MAD2L2 COG8 ZIC2 SHH WDFY3 PPP1R12A FRAS1 SELENOI RERE TMCO1 VPS33B TET3 KIT CACNA1G PGAP3 NUP107 PQBP1 NTRK2 MKS1 SUMF1 CD96 NDUFS6 CLIP1 UFD1 TRMT1 FBXO11 MBD5 SMC1A TBC1D24 TDP2 MED13 GTF2IRD1 SZT2 REN PNPO MYORG CDK5RAP2 ESS2 AP4E1 TPRKB ESCO2 UBR1 GLYCTK SIX3 SLC25A19 RBM28 ANK1 ITGA3 LIG4 ZBTB18 GMPPB CRPPA GRIN2B NALCN SEMA3E NIN B9D1 HNRNPU XYLT1 DYRK1A ERCC2 BCR ADAR KIF1A ATR PMM2 FGF8 DENND5A PRKDC GATA1 BCAP31 TSEN2 HCN1 CDK19 STAG1 SOX2 CNOT1 TAF2 PTRH2 SSR4 TSEN54 LINGO1 TUBG1 RFT1 CDK13 ADAT3 TRIO DHX30 EPB41L1 CYB5R3 COX15 PURA KDSR KDM5C GRIP1 INPP5K JMJD1C TLK2 NDUFV2 ATP5F1A RPL27 PPP2CA EIF2AK2 FANCA L1CAM SDHD NDP FOXH1 CHKB QARS1 EIF2B4 EXTL3 SLC25A20 TBCD NSDHL DSTYK ASPM PLAA NDUFS1 ATRX LARP7 NDUFS8 ACTG1 ACTL6B ANKLE2 ZC4H2 NIPBL GALK1 SNRPN PIEZO2 PIGY RPS7 IFT74 TFAP2A COPB2 CLCN4 RAI1 ORC6 KIF11 MVK POLG BLM NDUFB9 PCGF2 GJA1 TAF6 ERCC6L2 GNPAT PHGDH MFSD2A ALDH6A1 RNASEH2A NDUFS7 CHD7 GATA6 MESD WDPCP IBA57 COX8A HDAC4 TOR1A CPT2 RPGRIP1L AFF4 STAC3 FARS2 PIGO FBLN5 CDC45 RTEL1 SLC12A5 FANCL PHF6 SALL1 PUS3 RARS1 KIF14 ALDH3A2 CLPP ORC1 TGIF1 THOC6 KLHL7 PCLO ARFGEF2 STAMBP CSNK2A1 SARS1 SAMD9L PSAT1 TBL1XR1 DKC1 CWF19L1 ARV1 PIGW SMPD4 ELOVL4 SCYL2 TP53RK GABRG2 SLX4 TSR2 TRMT10A KMT2A RPGRIP1 HNRNPH2 TSEN15 LARGE1 CYB5A AGGF1 NTNG1 AGTR1 CPLX1 PHC1 PEX2 TAOK1 ALDH18A1 RPS19 SCN8A MPDU1 NDUFB11 MYT1L DHFR MT-ND2 FANCC TUBGCP4 SLC35A1 ASH1L LSS NACC1 AGT SPR CRADD TELO2 ALG1 QDPR AUTS2 IGF1 ARHGEF2 SLC25A22 TRAPPC11 NDUFAF2 CDC6 DYNC1I2 EIF2B2 PPP1R15B FRMD4A UFC1 CREBBP DHCR24 CASK SHMT2 C2CD3 WDR4 NDUFAF3 SLC39A14 SIGMAR1 CCDC47 PSPH ACSF3 IQSEC2 ERCC1 NARS1 KIF5C RNASEH2C PEX3 NDUFA6 CERT1 DOCK8 CDKL5 MAB21L1 IFIH1 MTFMT CEP135 SMARCA4 POMT2 MED17 GMPPA PCNT EIF2S3 TMEM216 DPF2 ARF1 CLTC VIPAS39 LETM1 MECP2 LEMD3 AAAS TP53 COL4A1 HIVEP2 UBA5 PPP3CA MPLKIP SLC1A4 PEX7 AHCY DDX11 CTCF BCL11A RIPPLY2 DMXL2 NUBPL GAS1 DGCR2 LMAN2L GTF2E2 SYNJ1 YIF1B ST3GAL5 KCNQ5 SLC2A1 ATP6V1A CAMK2A TMEM260 PCNA LTC4S KAT6A HTRA2 ARHGAP31 CDC42 OSGEP ALG12 MACF1 KMT2C STT3B DPM2 XPA TBC1D23 GJB4 CNKSR2 KCNA2 PUF60 CTNNB1 TECR UBE2T MCM5 CEP63 ATP6V1E1 PLK4 SDHB UGP2 TERT PIGC EXOSC9 PACS1 RAB18 KMT2B TMEM165 CTNND2 GORAB FANCF ATP6V0A2 KDM6A KCNJ6 COG6 ATRIP FLII ARID1B PARN DPM1 DISP1 RXYLT1 SNAI2 ZNHIT3 CDK6 DHTKD1 FANCB NUP133 RAB3GAP2 LIAS RREB1 MOCS2 USP18 CACNG2 RPL35 RPL31 HIRA ZNF148 MT-ND1 SPIDR CENPE ADGRG1 FANCI PPP2R1A PAX6 SNAP29 ENTPD1 FOXG1 BDNF COG1 TRAPPC12 ISCA1 TUBGCP2 GLE1 BRAT1 POLA1 THOC2 ANKRD11 MSMO1 MGME1 NDUFB3 AIMP2 FAR1 CEP152 GRIA2 DLK1 RNF168 KCTD7 ALG3 TAPT1 MIR17HG SIL1 EP300 FGFR3 ATPAF2 PEX19 HNMT BRIP1 NADK2 EFEMP2 EMC1 CDK5 DALRD3 NDE1 EFTUD2 SOX11 MFF MYH3 PAX3 SVBP EIF2B5 TNIK VPS11 MEG3 EZR FBXL4 DEGS1 SALL4 CEP57 NUP214 TCTN3 GLS RAB3GAP1 NUP37 HUWE1 SLC35A3 CTBP1 ELAC2 BRCA2 RPS26 LRP5 WWOX NSMCE2 DOLK GRIN2D CSPP1 SPG11 BCORL1 EFNB1 IKBKG FLVCR2 TMX2 PTF1A ACADSB RFWD3 CUX1 RTTN CHAMP1 PEX1 RPS27 MAPRE2 YARS2 B4GAT1 OFD1 ARNT2 DCPS NDUFS4 TUFM PAK3 FDXR TINF2 RB1 LARS1 NDUFV1 PAH XPC DDB2 MMACHC NR5A1 PIGQ MRPS22 FAM20C SP110 RIC1 SBF1 SPART CENPJ KIFBP PMPCB FANCM ADA2 CDT1 RAD21 RNASEH2B SPTAN1 TBL2 CNNM2 ALG9 KCNA4 DYNC1H1 RUSC2 TCF4 NHP2 SCN1A OCLN ABCA2 MASP1 ACTB VAC14 FBXO31 LIMK1 SMARCA2 ALG11 LINS1 FTO CACNA1A DHX37 EXT2 WDR73 RPS15A GALC RAB11A MED12L CHRNG KDM5B PCDH12 PLAG1 PSMC3IP EPRS1 PTPN23 TUBB2B PUS1 GNAO1 NCAPG2 PIGA UFM1 COMT GPKOW HMGA2 FUT8 MTHFR RPL11 ACE KATNB1 AARS1 FBXL3 UGDH TCTN2 TRPM3 NTNG2 PDHA1 SMARCD1 SAMHD1 PEX10 RPS10 EXOSC3 SLC16A2 AUH GBA DLL3 NUS1 NDUFA11 SLC25A24 PDGFRB ATP7A PLEKHG2 RPS28 METTL5 HCFC1 RSRC1 BMP4 KAT6B ELN CIC GATA4 AIMP1 SRPX2 ITGB6 SC5D EMG1 EPG5 SMARCC2 COQ9 INTS8 MEIS2 PYCR1 MICU1 TRAPPC6B MORC2 FANCG PLPBP POC1A PEX11B FKTN ERCC6 ACO2 DGCR6 MBOAT7 TIMMDC1 VPS53 MAPK1 NANS GAD1 GABRB2 NDST1 FARSA CACNA1B POLR2A FUS HMGB3 MED23 NUP188 CRBN DNAJC21 CSNK2B NAA10 TRRAP RPL15 RFC2 WDR45B DPP6 MRPS25 RPS6KA3 ADAMTSL1 ORC4 KNL1 PGAP1 DDX6 LIPT2 ALX4 FREM1 SMARCE1 CEP290 AGTPBP1 NAGS PET100 MCTP2 PLP1 METTL23 EFL1 FANCE NDUFS3 FBN1 NEUROD2 TRAPPC4 COASY CTU2 MRPS28 CDCA7 STAG2 INSR ZMIZ1 RSPRY1 ZNF592 SLC35A2 CC2D1A HSD17B10 DDX59 CUL4B TMEM231 GINS1 BCOR TUBA1A OGT TRIM8 PUS7 PORCN MIPEP ATP10A NCAPD3 CC2D2A P4HTM STIL MYMK CAMK2B TMTC3 TOE1 TREX1 CHRNA7 CDK10 RPL35A JAM2 NKX2-1 PRDM16 GRIA4 PEX16 DNMT3A ZNF335 TARS1 CENPF SUFU SLC13A5 SLC12A6 NF1 NDUFAF4 TRAPPC2L ARVCF IER3IP1 ZBTB16 BAZ1B PRKD1 NGLY1 MYCN TRIT1 MCM4 LFNG POMGNT2 OCA2 MYO18B RAD50 ZBTB11 DHDDS HSPD1 BUB1B NEXMIF SUCLA2 LONP1 ARID2 FARSB SKI BPTF SLC35C1 ZMYND11 VARS2 NECAP1 FBXW11 NCAPH SEC24C UPB1 CYP26C1 GTPBP2 GTF2I HBA2 NDUFB10 FRRS1L RIPK4 EOMES PRUNE1 PDGFB KYNU AGA RPS23 COG2 OTUD6B DOCK3 CTNNA2 GFM1 EGF DNM1L PEX13 INPP5E SDHAF1 EIF2B3 MT-ND3 SLC18A2 PTDSS1 ADD3 XRCC4 GRIK2 LDHD MICOS13 TCF20 CDH15 IARS1 YME1L1 DNA2 DCHS1 KIF2A XPR1 CRIPT UBTF PEX14 RAB11B DPYD TBCE NOP10 SLC6A8 USP7 CNTNAP1 DISC1 FOXRED1 ASXL3 MTRR MESP2 PSAP ALS2 SMG9 TMEM126B ITPA PTS AMPD2 SCN2A OSTM1 SLC5A6 KCNAB2 POLE HBA1 ACD AHSG PIGH GJB3 PPT1 SLC25A1 RPS24 WDR26 RPL18 RNASET2 GABRD FREM2 EXOC7 ADARB1 NAT8L PARS2 KIF5A DNM1 PISD SMARCB1 SPOP NDUFS2 BNC1 EIF2B1 MGAT2 ARSL DOCK6 AP3D1 KIF15 MAPK8IP3 SGPL1 BUB1 MRPS34 TBX6 ZSWIM6 VPS13B POR NHEJ1 TBCK PRSS12 VPS37A POLR1A VPS51 POLR3H PNKP IFT140 MTHFS SNRPB FIG4 FMN2 JAM3 MAFB NEK9 SMAD4 SETD5 RPL26 RAD51C CHUK PIGV TUBB4A STAT5B NDUFAF5 PIGL CNP TUBA8 MAP1B PRDX1 PEX12 MYSM1 RPS17 EXOC8 RNPC3 DGUOK ALG13 LAS1L BRPF1 TUSC3 SLC6A9 AP3B1 B9D2 AP3B2 ACADS RTL1 CCDC88A ACTG2 VPS13D CLP1 EXT1 GALNT2 FH SHROOM4 BMP15 FGFRL1 G6PC3 RARS2 TMEM67 WT1 ADNP RPS29 TBX4 TASP1 NDUFAF8 PI4KA VARS1 EBF3 FAT4 HP_MILD_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_MICROCEPHALY LARP7 ASPA SDHB SDHAF1 PLAG1 OCA2 RIC1 SDHA UBE3A CEP85L COG6 SDHD THOC6 GATA6 CWF19L1 HP_ENCEPHALOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOMALACIA ANGPTL6 TGFBR3 ALX4 THSD1 ABCC6 ENPP1 DNMT3A COL3A1 ENG MSX2 HP_NON_MEDULLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MEDULLARY_THYROID_CARCINOMA HRAS HABP2 FOXE1 DMPK NKX2-1 SRGAP1 NRAS MINPP1 HP_ABNORMAL_CONSUMPTION_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONSUMPTION_BEHAVIOR ACAT1 LARP7 VAMP1 PSEN1 MC4R CTNS CISD2 MN1 HPSE2 SLC25A1 FGFR1 DHPS SLC3A1 ITPR3 ALMS1 SLC2A3 CACNA1A KCNJ1 PROKR2 HSD11B2 HNF1A LEP CDC73 COL13A1 DPYD GNAS SIM1 ARNT2 SH2B1 MKRN3 SNORD115-1 BSCL2 POMC DZIP1L MBD5 ATP10A MAGEL2 NDN CYP11B1 PTPN22 CTNNB1 SNRPN GRN SYNGAP1 KCNJ5 TMEM67 UBE3A LRIG2 MAPT CYP11B2 PKHD1 CLDN10 NKX2-1 SLC25A13 KCNAB2 PRDM16 AQP2 PCDH19 OCA2 SYT2 MEN1 HTT SLC7A7 SETD2 SATB2 SOX3 MAN1B1 PLA2G6 KCNJ10 PWRN1 CLCNKB CACNA1D SNAP25 LEPR HNF1B HERC2 INSR ADNP NPHP1 NPHP4 PREPL NTRK2 NLRP3 SKI AGPAT2 PWAR1 AVPR2 SLC5A7 ELP2 SLC5A2 MYO9A GABRD OTX2 SLC12A3 AVP CHAT WFS1 BRAF AGRN SOX2 CASR IL6 GPR101 NPAP1 CLDN16 HESX1 NPHP3 PCSK1 HNF4A PACS1 SNORD116-1 RERE SLC18A3 HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM RSPO1 UBR1 PUF60 APC SOX4 TCF4 MBTPS2 NALCN DOK7 SMPD4 XYLT1 PEX5 IFT122 COX14 LONP1 ZNF469 FGFR3 ARID2 ATP6V0A2 FGD1 NECTIN4 DOCK6 TPM2 GDF5 MTOR ARID1B PIEZO2 THOC2 KRT10 TSEN15 VPS33A GJB2 CKAP2L KRT5 TRPV3 DIS3L2 PIK3CA AAGAB AKT1 CPLX1 NOG HDAC8 FLNA RPL10 KCNK9 NUP188 B4GALT7 ZNF462 SEPSECS MEG3 DLK1 NSD2 ASXL1 PKP1 TNNI2 RNU4ATAC KRT1 WDR37 HNRNPK PTCH2 PEX13 VPS51 SEMA3E RPS6KA3 ADAMTSL1 COG6 NECTIN1 PEX1 LAMB3 RPS23 RHBDF2 B3GLCT TELO2 ATR BRF1 LAMA3 IVNS1ABP AUTS2 IGF1 TGM5 LIFR DSE CEP55 GPR101 SMARCE1 MED12 SMC1A LMX1B TSEN2 PEX10 SETD5 CHD7 FOXP1 SUFU PEX6 SMARCA4 BMPR1B ITGB4 ATP6V1B2 CTCF MCTP2 TSEN54 GLE1 PLAA KRT16 PEX19 HRAS SETBP1 VAC14 SMOC1 EHMT1 FGFR2 FLG ANKRD11 NLRP1 SHOC2 NUP88 SMARCAD1 MYOD1 MSL3 BRAF GATA1 CDK19 KRT14 NAA10 CTSB TRPS1 GJB6 OFD1 PLOD3 MYH3 KRT17 SOX18 CHST14 TGM1 YY1 MAP1B SMC3 CIB1 MAP2K2 RAB11B PEX2 DPH1 VPS13B MST1 ITCH PPP2CA PEX14 GJA1 NIPBL AIP DPF2 TWIST1 NBAS UBA1 SIN3A CHST3 KRAS TGDS NXN LETM1 EXTL3 BCOR DLX4 SPECC1L WNT10A AAAS PEX11B CD96 MED25 PTCH1 SOX11 PEX26 RTL1 RBM10 PKDCC FIG4 PIGS CTSC PEPD PIGL SLURP1 HPGD PDHA1 CDK10 SMARCD1 DDX11 WAC KCNN3 CCBE1 RIT1 KCNH1 PEX3 ESCO2 KMT2A MAP2K1 ATP2A2 TFAP2A PNPLA6 IFT57 STXBP1 MTX2 GPR35 EXT1 KRT83 RAPSN KRT6A PEX12 PEX16 COL7A1 FERMT1 EP300 CTBP1 DSP SLC25A24 PTEN ATRX TCF12 CSTA SDR9C7 ROR2 FGFRL1 KRT9 G6PC3 CREBBP PERP HDAC4 MAP3K7 ADNP TSEN34 SLC16A2 ARID1A PLOD1 MUSK LBR BMP4 TBX4 KAT6B STAG1 SLC18A3 TASP1 LAMC2 AMACR BHLHA9 NGLY1 COL17A1 SLC39A13 SMARCC2 KDSR FGF9 DPAGT1 C1R PORCN TBL1XR1 TERT KRT6B TNNT3 RIN2 SERPINB7 PLEC ZC4H2 RAD21 ASXL2 SMARCB1 CSGALNACT1 PACS1 UBE3B HP_ABNORMAL_INSULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INSULIN_LEVEL RHO CRB1 ARL6 INSR SLC7A14 PPARG MC4R ABCC8 INS SNRNP200 GLUD1 KIAA1549 TOPORS EYS NEK2 ALMS1 PMM2 CAVIN1 SPATA7 SLC16A1 CDKN1B PRPF3 CERKL LEP PRCD HNF1A SEMA4A RP2 IFT88 RPGR PRPF4 IDH3A SIM1 KLF11 CNGB1 SH2B1 MKRN3 PDE6B HADH SNORD115-1 BSCL2 PAX4 RDH12 HNF4A ESR1 RNF125 PLIN1 SAG DIS3L2 STAT6 RGR GCK TULP1 IMPDH1 DBH IFT140 DHX38 BBS2 NRL IFT172 CAV1 DMXL2 SCAPER CEL GALK1 MPI TTC8 RLBP1 C8orf37 CNGA1 PDE6A NR2E3 KIZ LMNA RP1L1 DCAF17 MEN1 MAFA AGPAT2 ARL2BP RP1 KLHL7 PRPH2 REEP6 DMPK AHI1 LRAT ARL3 ZMPSTE24 POMGNT1 CLRN1 GUCA1B UCP2 IDH3B CRX USH2A HYMAI PWRN1 RPE65 AGBL5 TUB ZFP57 KCNJ11 BEST1 ARHGEF18 HERC2 PRPF31 FAM161A CDHR1 PRPF6 NDN MERTK PROM1 PWAR1 APPL1 AKT2 FOS ZNF513 PDX1 ROM1 ZNF408 HGSNAT PCARE PRPF8 PLAGL1 TRMT10A NEUROD1 IMPG2 RP9 POMC NAB2 RBP3 CA4 MAGEL2 LEPR FSCN2 NPAP1 OFD1 AHR ABCA4 MAK BLK PCSK1 DHDDS SNORD116-1 SNRPN PDE6G HP_HYPOINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINSULINEMIA APPL1 STAT6 ZFP57 NAB2 KCNJ11 GCK HNF1A INS PDX1 KLF11 PAX4 ABCC8 DMXL2 RNF125 BLK CEL PLAGL1 NEUROD1 HNF4A HYMAI HP_ELEVATED_HEMOGLOBIN_A1C http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEMOGLOBIN_A1C APPL1 ABCC8 GCK INS HNF1A NSMCE2 PDX1 KLF11 KCNJ11 PAX4 MTX2 BLK CEL NEUROD1 HNF4A HP_REDUCED_NATURAL_KILLER_CELL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_NATURAL_KILLER_CELL_COUNT DNMT3B IL2RG PIK3CD AP3B1 PGM3 CD70 NLRC4 KNSTRN HP_PULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_HEMORRHAGE SLC7A7 PRKAR1A NPM1 COPA FIP1L1 ENG SP110 SLC35A1 ZBTB16 PML RARA HLA-DPB1 PTPN22 NABP1 CTCF WIPF1 HLA-DPA1 STAT5B BCOR PRTN3 WAS STAT3 NUMA1 COL3A1 TBL1XR1 IRF2BP2 CTLA4 NLRC4 HP_ABNORMAL_SIZE_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_CLITORIS RSPO1 PEX11B ATR WT1 INSR UBE3B ORC6 UBR1 CYP11A1 PPARG HCCS HSD3B2 CEP152 PEX5 COX7B SOX9 PEX26 PEX12 FDXR NR5A1 PEX13 NDUFB11 CCNQ KAT6B GATA4 CD96 CDC6 ATIC PEX19 BSCL2 CDC45 PEX6 AGPAT2 CYP11B1 ORC1 TALDO1 VAC14 MAP3K1 PEX2 GAD1 FOS FGFR2 SRY CAV1 FIG4 TOE1 ZFPM2 CAVIN1 CDT1 ORC4 PEX10 POR DHX37 ESCO2 PEX1 PEX3 DHCR7 TRAIP PEX16 PPP1R12A NR0B1 VAMP7 DMRT3 PEX14 FRAS1 WWOX GMNN HP_IMPAIRED_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_GLUCOSE_TOLERANCE LRP6 APPL1 GCK POLG2 SLC40A1 HSD3B2 USP8 PSMB8 PDX1 SLC5A1 KCNJ11 HNF1B CEL NEUROD1 HNF4A IFT172 HNF1A AIP INS LMNA NSMCE2 SLC2A2 KLF11 INSR CAV1 PAX4 MAFA ESR1 ABCC8 BLK WFS1 HP_ADENOCARCINOMA_OF_THE_INTESTINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_INTESTINES BMPR1A GREM1 MST1 POLE APC MLH1 NTHL1 SMAD4 ADA2 POLD1 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 RPS7 RPS26 MSH2 RPS28 RPL31 RPS27 RPS17 MUTYH RPS15A RPL11 RPS19 RPS29 TCF4 RPL18 GPR35 RPL27 HP_ADENOCARCINOMA_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_LARGE_INTESTINE BMPR1A GREM1 MST1 POLE ADA2 POLD1 RPS24 GATA1 RPL5 RPL35A RPS10 TSR2 RPL26 RPL35 RPL15 RPS7 RPS26 RPS28 RPL31 RPS27 RPS17 MUTYH RPS15A RPL11 RPS19 RPS29 TCF4 RPL18 GPR35 RPL27 HP_NEOPLASM_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PITUITARY_GLAND MLH3 APC PKD1 TRAF7 CDKN1B TERT PIK3CA CDKN1A USP8 AIP PRKAR1A NF2 MEN1 GPR101 SMARCE1 PDGFB PMS1 TGFBR2 PMS2 KRAS CDH23 CDKN2C TSC1 TSC2 BICC1 IDH2 IDH1 GANAB CTNNB1 FAN1 AKT1 CDKN2B RPS20 BRAF BAP1 MSH6 SUFU GNAS PKD2 SEMA4A BMPR1A MSH2 MLH1 SMARCB1 EPCAM SMO HP_NASOGASTRIC_TUBE_FEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING DCPS NSUN2 IQSEC1 PTCD3 ASPA RECQL4 FMN2 PIK3CD AIMP1 WASHC4 FOXP3 SLC45A1 MBOAT7 CC2D1A ST3GAL3 SLC35A2 PSAT1 C12orf4 CARS2 SIM1 ABCD1 GRIN1 CLIP1 HNMT TRAPPC9 EPM2A DPM2 COL4A5 RSRC1 NDST1 FBXO31 MED25 MAGEL2 MED23 GRIK2 B3GALNT2 SARS1 ANAPC1 METTL23 NHLRC1 TUSC3 PGAP1 CRBN HECW2 TECR MAN1B1 TNIK WAC ACSF3 EZR FRRS1L EDC3 KCNK9 PRSS12 KDM5B KNSTRN NACC1 LINS1 PIGC PLP1 CRADD ZC3H14 PACS1 LMAN2L NONO MFF COL4A6 HP_DECREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_IRON CARD9 FOXP1 SKIV2L CP TRNT1 COL7A1 HP_MALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_SEXUAL_DYSFUNCTION VPS13C TRAF7 ANOS1 TERT SPRY4 CDKN1A DCC AIP UCHL1 SMARCE1 TTR PODXL DUSP6 CHD7 NDP SEMA3A LRRK2 FGF17 FGF8 CDKN2C PROKR2 CDH23 HFE IL17RD FGFR1 FEZF1 PINK1 HEXB RTN2 NSMF KISS1R CDKN2B HAMP HTRA2 DNAJC6 ABCD1 CACNA1G WDR11 MEN1 GUCY1A1 SUFU TAC3 BMP2 BAP1 FMR1 COQ2 SYNJ1 SMARCB1 TACR3 GNRHR HBB AR ATXN8OS DMPK CDKN1B HS6ST1 NF2 GPR101 LMNB1 PDGFB SOX10 HESX1 GALC SACS FLRT3 CCDC141 SLC40A1 AKT1 NDNF PROK2 SNCA PRKN GNRH1 PIK3CA HJV PARK7 TFR2 KISS1 SMO HP_DARK_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DARK_URINE STAT4 SPP1 CPOX IRAK1 PYGM HMBS HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB SMCHD1 ZSWIM6 TUBB3 POU3F3 GSX2 HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB SHH ZSWIM6 TDGF1 NODAL GLI2 CDON STAG2 PTCH1 DLL1 FGF8 DISP1 TGIF1 FOXH1 SIX3 GAS1 SMCHD1 FGFR1 ZIC2 TUBB3 SMC1A POU3F3 GSX2 HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY SLC44A1 WDR45 ATXN8OS SNCAIP ATXN3 C19orf12 FBXO7 ATXN2 MAPT LRRK2 TBP FTL GCH1 GLUD2 TBCE SNCA NR4A2 PRKN ADH1C GBA HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS WNT7A FGF10 ATR PDE4D RBM10 SALL4 DHODH TBX3 TAPT1 MMP13 GLI3 FGFR2 NIPBL PCNT MAFB RECQL4 SHOX SF3B4 FLNB SLX4 ALG12 RFWD3 FANCI APC LRP4 EIF4A3 CHN1 TRIP11 RAD51C TBX5 IHH AFF4 RPL26 EXT1 GDF5 B3GALT6 LMX1B COL11A1 SAMD9 B2M P3H1 IFT81 FLNA RPS19 CCNQ FANCB ESCO2 FGFR3 DONSON EXT2 NPR2 FGF23 TMEM67 PRKAR1A HOXA11 HP_HYPOLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPIDEMIA CETP PNLIP APOC3 MTTP NGLY1 ACOX2 ANGPTL3 SAR1B GALNT2 HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART COQ4 PKD1L1 WASHC5 TRAF7 GATA4 NKX2-5 NR2F2 SPOP STAG2 DTNA GATA5 GJA1 ARHGAP31 MYRF TBX5 WT1 GATA6 NADSYN1 FLI1 POLR3A MKKS SMAD6 CRELD1 CCDC22 ANKRD11 CDK8 FOXF1 B3GLCT ZNF148 PAH KYNU HAAO MCTP2 TBX1 NOTCH1 HP_NARROW_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALPEBRAL_FISSURE LARP7 ATRX CACNA1G DGCR8 RBMX PCGF2 INTS1 DDR2 CEP55 DGCR6 DNMT3A SMAD4 ADNP SLC6A17 PHF6 HDAC4 DOCK6 TBX1 B9D2 PCNT PDE4D GPC6 EFEMP2 SMARCA2 TENM3 DDX6 ARID2 RTL1 MEG3 HSPG2 DLK1 KCTD1 KMT2A MYCN RECQL4 ESS2 PGM3 RPL10 WDR35 KPTN TRMT1 TBL1XR1 TRIP12 GATAD2B DGCR2 SPOP MED13 HP_ABNORMALITY_OF_THE_THORACIC_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY FOXP1 CYBC1 GLMN TRAF7 TERT MAGT1 NF2 PRKCD EIF2AK4 SMARCE1 EFL1 PDGFB HLA-DRB1 BCL6 CYBB CYBA RASGRP1 SBDS RHBDF2 BCL2 BCL10 NCF1 NUTM1 SRP54 STAT6 AKT1 BRD4 PTPN22 NCF2 FBLN5 DNAJC21 NAB2 BAP1 PORCN MALT1 SUFU EWSR1 PIK3CA BIRC3 BTNL2 APOE NCF4 WT1 SMARCB1 EFEMP2 GNPTAB SMO HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS FLNA PDGFRB MMP14 LMNA RETREG1 DDR2 ZMPSTE24 HPGD WNK1 MAFB IFIH1 NOTCH2 MMP2 KIF1A CTSC COL3A1 MTX2 ATL3 SCN9A CTSK BANF1 HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL TP53 CFH SLC7A7 FKTN PLEC LYST TET2 CD46 SLC4A1 POMK SPP1 SIL1 PLA2G6 FLI1 ACADM POMGNT1 RB1 USB1 LARGE1 GAA COL4A1 RXYLT1 POMT2 ACAD9 GATA1 CFI HBB RHAG MYC PIEZO1 MVK DAG1 FKRP MPL SLC25A13 STAT4 CHEK2 CALR IRAK1 POMGNT2 PNPLA2 VPS13A INPP5K RPS14 POMT1 HELLPAR CRPPA JAK2 KCNN4 B4GAT1 B3GALNT2 HP_DECREASED_SERUM_COMPLEMENT_C4 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_C4 STAT4 SPP1 PRKCD IRAK1 C4B HP_ABNORMAL_DLCO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DLCO CSF2RA COPA SFTPC MUC5B NDUFAF6 RTEL1 PARN XYLT1 TERT EIF2AK4 XYLT2 SFTPA2 ABCC6 HP_TIGER_TAIL_BANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIGER_TAIL_BANDING TARS1 GTF2H5 RNF113A MPLKIP GTF2E2 ERCC3 ERCC2 HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN ITGA6 CTNNB1 FAH MAD2L2 MET ITGB4 ATM PLEC SLC52A2 NGLY1 OCRL RNF168 SETX NPHS1 MKS1 FLI1 SLC25A13 PIK3R5 PRPS1 PEX6 PIGN AFP HP_ABNORMALITY_OF_THE_TESTIS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TESTIS_SIZE RSPO1 CYP11A1 ANOS1 GLI3 PQBP1 PROP1 POLA1 MED12 NR5A1 NANOS1 AGA GNRH1 ATRX MAP3K7 ZMYND15 ALMS1 DUSP6 BRCA1 FGF17 PHF8 XPC DDB2 PROKR2 LHCGR THOC2 RBMY1A1 SLX4 TEX15 FMR1 ARX POU1F1 AXL IL17RD FEZF1 MAGEL2 FANCB TBC1D20 GNAS CYP11B1 NSMF RPL10 SNRPN SLC29A3 TSPY1 HSPG2 WDR11 FANCM PTEN MECP2 NDN PALB2 XRCC2 TEX11 DMRT3 SOX3 KDM5C WT1 LHX4 KCNJ6 RBMX BRCC3 HSD3B2 FAM111A FANCI SYCP3 GATA4 HESX1 SIM1 RAD51C UPF3B CYB5A FGF8 XPA CDKN1C FANCE CHD7 TDRD9 DCAF17 GLI2 PROK2 ARL6 MCM8 DDX3Y HUWE1 KLHL10 HS6ST1 KISS1R RAD51 CCDC141 DAZ4 SEMA3A WRN CHRM3 CTDP1 SPRY4 DCC CYP19A1 DHX37 ERCC3 SRY PMM2 TACR3 CUL4B GBA2 LEP CYP17A1 FANCD2 RLIM DNAJC19 FSHB OGT GNRHR BBS1 BRIP1 DAZ2 FBN1 FGFR1 ERCC5 GDF6 SOX9 SAMD9 LAS1L SLC39A4 ZFPM2 DMXL2 TAF4B CCDC28B PHGDH POR B4GAT1 TAC3 OCA2 MBTPS2 ERCC4 NR0B1 VAMP7 AKT1 FANCF IL1RAPL1 CLIC2 TCTN3 SATB2 NF1 ERCC2 SRA1 SOHLH1 MEIOB HDAC8 BRCA2 SOX10 FANCC DAZ3 SEMA3E USP9Y DAZ1 ZDHHC9 FLRT3 FOXA2 FANCL PHF6 CFTR CUL7 NDNF UBE2T RFWD3 SYCE1 FANCG FANCA MAD2L2 TEX14 LEPR OTX2 DKC1 MAP3K1 KISS1 WWOX RAB18 HP_SEROSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEROSITIS NOD2 IL6 ELANE ERAP1 TLR4 FCGR2A MAF HBA1 MVK TREX1 MEFV PMM2 MIF HLA-DPA1 F5 PTPN22 CTLA4 JAK2 UBAC2 TNFRSF1A CCR1 HBA2 STAT4 LACC1 HLA-B HLA-DRB1 CFB KLRC4 IL23R IL10 FAS IL12A HLA-DPB1 FCGR2B PRTN3 IL12A-AS1 PRG4 BRCA1 C4A DNASE1 HP_THIN_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_EYEBROW SNRPE PEX6 KDM6A UBE3B SOX18 EDAR KREMEN1 NF1 TP63 AEBP1 ALX4 TRPS1 GNPTAB SPINK5 RMRP LIPH DSP EDARADD LPAR6 KAT6A CHST3 LZTR1 TWIST2 NAA10 EPS8L3 NECTIN4 STAG1 DSG4 HR POLR3A KMT2D DOLK WNT10A HDAC4 RPL21 CDH3 GJB2 CCNK CDC45 BCL11B RNU4ATAC EDNRA LSS BRF1 EDA EBP B4GALT7 MEGF8 MBTPS2 SOS2 PEX1 ST14 KIFBP ANTXR1 KANK2 SOS1 GJB6 APCDD1 JUP CLDN1 KRT17 ITGA3 KRT71 RPS28 RIN2 FIG4 CRIPT COL11A1 NECTIN1 KRT74 BANF1 TMCO1 HP_SPARSE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYEBROW TP63 SNRPE STAG2 KDM1A LARP7 KDM6A TBX3 TRPS1 GNPTAB SPINK5 RMRP LIPH CHST3 LZTR1 KRT25 TWIST2 NAA10 NECTIN4 DSG4 MEIS2 HR TBCD POLR3A DLX4 WNT10A RPL21 GJB2 MED25 LIG4 WNT10B LSS EDA NUP188 EBP B4GALT7 MEGF8 FIG4 SOS2 GTPBP2 ST14 KIFBP HECW2 KANK2 SOS1 PQBP1 HERC1 RNU4ATAC ZMPSTE24 APCDD1 HNRNPK HEPHL1 CLDN1 ITGA3 ANTXR1 PIGK MTX2 COL11A1 NECTIN1 KRT74 BANF1 BRF1 SOX18 NSUN2 EDAR DPH1 ATAD3A NF1 MAN1B1 ALX1 ALX4 CDC42 ODC1 DSP EDARADD LMNA LPAR6 MESD KAT6A SON LRP1 MED12L KMT2D DOLK HDAC4 WDR26 CDH3 VAC14 PPP2R3C GAD1 EDNRA SPOP KRT71 GJB6 NFIB PURA JUP WDR35 SMS CWC27 KRT17 IRX5 RPS28 RIN2 CRIPT YY1 COG6 MBTPS2 TMCO1 UBE3B HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS IL7R RAG1 RAG2 PNP CD3E CD247 IL2RG PGM3 CD3D DCLRE1C HP_ABNORMALITY_OF_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BODY_MASS_INDEX HTT SLC25A13 THRA CORIN THOC2 STOX1 FLT1 SLC2A3 HP_LIMB_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MYOCLONUS GABRB3 CACNA1H MAPT CDKL5 JRK KCTD17 CPLX1 ASAH1 TBC1D24 KCNQ2 SGCE DRD2 STXBP1 GABBR2 ABCD1 MECP2 SCN2A KCNQ3 SCN8A TOR1A NOP56 GABRG2 GABRA1 NTNG1 KCTD7 PRRT2 SLC2A1 HP_DECREASED_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LIBIDO CDH23 MEN1 CDKN2C CDKN1B CDKN1A CDKN2B AIP FSHB HP_PAIN_IN_HEAD_AND_NECK_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_IN_HEAD_AND_NECK_REGION TRAF7 TERT COL8A2 SF3B1 AKT1 VSX1 KRT17 HMBS CHST6 GNAQ NF2 SMARCE1 GRHL2 RASA1 KRT16 PDGFB GNA11 CTNS BAP1 SLC39A14 DKK1 SUFU NTRK1 KRT6B PIK3CA KRT6A CYSLTR2 SMARCB1 OVOL2 SCN9A ZEB1 SMO HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY SLC26A2 SOX9 GLE1 POLR3A CHST14 FUCA1 CHRNA1 CHRND RIPPLY2 DSE CHRNG FLNB TRPV4 DHX37 HP_EARLY_ONSET_OF_SEXUAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EARLY_ONSET_OF_SEXUAL_MATURATION KDM6A CLIP2 LRP5 IQSEC2 STK11 INSR NFIX PPARG GLI3 PCNT PAPSS2 DLL1 PIGT ALMS1 STAR DLK1 MAB21L2 NRAS NR0B1 KMT2E LETM1 MYT1L KCNA1 PTCH1 LHCGR MMP2 FLII PIGP MKRN3 SNORD115-1 MEG3 MLXIPL TRMT1 NF1 DISP1 RTL1 KANSL1 ACTL6B TRIM8 CYP11B1 PIGQ NODAL MAGEL2 RAI1 PLAGL1 SIK1 FBXW11 CPLX1 GNAS NR3C1 NDN IFNG SVBP SNRPN SOX6 CAV1 TGIF1 AIP MED13 GTF2IRD1 GTF2I NSD2 DHCR7 SCN2A HYMAI POR ACTL6A RAB23 H6PD TANC2 RFC2 BSCL2 SIX3 OCA2 DMXL2 TDGF1 GAS1 TANGO2 EHMT1 AGPAT2 GLI2 HSD3B2 HRAS PNKP TSC1 GNAO1 KRAS IDH1 TBL2 MMP14 FGF8 DOCK3 NRXN1 DDX6 DEAF1 RLIM EP300 CTBP1 BPTF FOXH1 USP7 SLC25A22 FLI1 PWRN1 SLC35A2 HSD11B1 FGFRL1 SIM1 TXNRD2 HERC2 KMT2D CREBBP KMT2C ELN DDX3X PSMD12 CASK DYRK1A PWAR1 LMNA BCORL1 BAZ1B LIMK1 CDON MRAP FOS CNTNAP2 ARX MSL3 KISS1R SCN1B NTNG1 TCF20 STXBP1 CAVIN1 MEN1 NNT SMAD4 NEUROD2 ZIC2 TSC2 NPAP1 SHH WDFY3 MC2R CDKL5 IDH2 ZMIZ1 TRAPPC4 SNORD116-1 PTH1R HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM SDHD NF2 TRAF7 TERT CDKN1A SDHB TMEM127 ASCL1 PRKAR1A MEN1 SMARCE1 KRIT1 SLC25A11 RET GCGR KARS1 CDKN1B SPRED1 CDKN2C DNMT3A EPAS1 VHL LMNA TSC2 PHOX2B GDNF NF1 PDCD10 CDKN2B BDNF SDHAF2 FH SDHC SUFU EDN3 BAP1 MAFA SDHA SMARCB1 APC CCND1 MAX RNF43 MDH2 PDGFB DAXX TSC1 KIF1B KIT HRAS DLST AKT1 MYO1H ATRX LZTR1 CCM2 PIK3CA SMO HP_SCHWANNOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHWANNOMA KARS1 PRKAR1A RNF43 NF2 SMARCB1 NF1 HRAS LZTR1 HP_INTRACRANIAL_MENINGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_MENINGIOMA BAP1 TRAF7 TERT SUFU AKT1 PIK3CA NF2 SMARCE1 SMARCB1 PDGFB SMO HP_NEOPLASM_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EYE SDHD CCND1 DMPK SF3B1 MAX ERCC3 GNAQ MDH2 ERCC2 RB1 MSH6 RET NDP BAP1 XPC DDB2 CHEK2 TSC1 TSC2 TP53 VHL AKT1 NF1 SEC23B SDHC CYSLTR2 PIK3CA XPA DLST KRT1 KRT10 SDHB ERCC5 TMEM127 SDHA IFNG SLC25A11 SDHAF2 FH USF3 GNA11 PTEN KLLN ERCC4 NF2 KIF1B HP_NEOPLASM_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_BREAST RAD51D RAD51C POLE STK11 TP53 APC MLH1 PALB2 SEC23B PIK3CA C11orf95 NQO2 PRKAR1A AKT1 PPM1D PTEN BRIP1 RAD51 CDKN2A POLD1 NTHL1 HMMR SLC6A17 FAS MSH2 ATR MEFV TERT BAP1 NF1 COL14A1 CDH1 CDKN2B CASP8 GNAS BARD1 BRCA2 MSH6 ATM ACD USF3 PRLR BRCA1 RB1CC1 KLLN PRKCD PALLD NBN SDHC PHB CDK4 KRAS RNF43 RELA CASP10 MITF CHEK2 XRCC3 SDHD TWIST1 RAD54L IDH2 IDH1 SDHB POT1 RASGRP1 LMNA PRKN MC1R CTNNB1 FGFR2 TERF2IP MGMT AAGAB MDM2 SMAD4 BLM ESR1 OPCML MRE11 SLC22A18 RAD50 FASLG WRN HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY DSE WFS1 ERGIC1 CHST14 CISD2 HP_NUCLEAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCLEAR_CATARACT MIP NHS HSF4 CRYBB3 CRYBB1 MVK CFAP410 CHMP4B GJA8 VIM WFS1 BFSP1 GALK1 CRYGC CRYBB2 FTL HP_CORTICAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_CATARACT MIP KIAA1549 OCRL NF2 BFSP1 OPA3 HP_CEREBRAL_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_PALSY RBM10 PROC DCC HPGD UGT1A1 AUTS2 DNASE1L3 SLCO2A1 CD109 AIP CACNA1D AP4M1 SYT1 SLC6A3 PNP GPR101 SPR GP1BA GP1BB CA8 SLC5A6 RAD51 AP4S1 IDUA NTN1 DNAL4 TUBB2B ITGB3 GABRA2 ATP8A2 ITGA2 OTUD6B WDR81 GAD1 FBXW11 RNF125 ITGA2B PCBD1 SCN4A DCX KANK1 IDH2 IDH1 SMARCB1 VLDLR HP_RECURRENT_HAND_FLAPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HAND_FLAPPING CDK19 AFF2 HECW2 NOVA2 UBE3A HERC2 SYNGAP1 ASXL3 OCA2 HP_CONSPICUOUSLY_HAPPY_DISPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSPICUOUSLY_HAPPY_DISPOSITION SLC9A6 KANSL1 UNC80 SATB2 SIN3A NALCN HP_OVERFRIENDLINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERFRIENDLINESS GTF2IRD1 BAZ1B CLIP2 LIMK1 GTF2I ELN RFC2 TBL2 KANSL1 PIGH MED13L HP_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_MALFORMATION GLMN DLL4 ENG ADAMTS3 FANCI PTEN SMAD4 XRCC2 RASA1 BRCA1 BRCA2 KRAS ACVRL1 ARHGAP31 COL5A2 GNAQ DOCK6 FAT4 FANCD2 MNX1 FANCC RAD51C EOGT SLX4 NOTCH1 BRIP1 IL6 AGGF1 GUSB FANCB CCBE1 RBPJ TEK FANCL FANCE CBS FANCM COL1A1 UBE2T RFWD3 FANCG ARL6IP6 FANCA PIK3CA PALB2 MAD2L2 COL3A1 COL5A1 EPHB4 ERCC4 RAD51 GDF2 AKT1 FANCF HP_RECURRENT_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PANCREATITIS SPINK1 MT-ND4 CFTR CASR PRSS1 MT-CO1 MT-ND5 MT-TW MT-ND6 MT-CO3 CPA1 MT-TL1 MT-ND1 MT-TS2 PRSS2 CDC73 MT-TF MT-TQ MT-CO2 MT-TH CTRC HP_NEOPLASM_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYROID_GLAND MLH3 BMPR1A APC KEAP1 FOXE1 DMPK CDKN1B PIK3CA CDKN1A SEC23B PRKAR1A PTEN CDC73 CASP10 CDKN2A KCNJ10 PMS1 TGFBR2 PMS2 NRAS FOXI1 KRAS FAS NRTN HABP2 CDKN2C SDHD RET EDNRB MINPP1 AKT1 CHEK2 DICER1 SLC26A4 JAG1 SEMA3D SDHB GREM1 FLCN ECE1 FAN1 CDKN2B RASGRP1 LMNA RPS20 HRAS USF3 SRGAP1 GDNF EDN3 SEMA3C MEN1 KLLN MSH3 PRKCD MSH6 TP53 NKX2-1 MDM2 SEMA4A TG MSH2 MLH1 SDHC EPCAM FASLG WRN HP_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TICS BCR PTCHD1 MAPK1 CRKL ARID2 VPS13A PUF60 HDC SLITRK1 GATAD2B ZSWIM6 PANK2 PDGFB HP_MOTOR_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_TICS PTCHD1 SLITRK1 PANK2 HDC VPS13A PDGFB HP_ABNORMALITY_OF_THE_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_HAIR BNC1 WT1 LHB ORC6 NUP107 FSHR FOXL2 PSMC3IP SOX9 GNRH1 NR5A1 MDM2 SRA1 GATA4 BMP15 CYP17A1 EPS8L3 AR CCDC141 CYB5A GNRHR AXL FGF17 APCDD1 SEMA3E PPP2R3C WDR11 SPRY4 DUSP6 ZFPM2 SRY ITGB4 MRPS22 GJB6 FEZF1 DHX37 COL17A1 TP63 HLA-DRA POLR3H NR0B1 SPIDR MAP3K1 ANOS1 VAMP7 DMRT3 WWOX FSHB HP_ABNORMALITY_OF_THE_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR WT1 LHB ORC6 TBX3 ADAMTS3 SOX9 SNRPE NR5A1 GNRH1 SRA1 GATA4 CYP17A1 EPS8L3 FAT4 AR APOE LPAR6 CCDC141 CYB5A GNRHR AXL FGF17 APCDD1 SEMA3E PPP2R3C MAP3K1 WDR11 CCBE1 DSC3 PSMB8 SPRY4 DUSP6 ZFPM2 SRY ITGB4 GJB6 FEZF1 DHX37 COL17A1 TP63 ZBTB20 HLA-DRA NR0B1 VAMP7 DMRT3 WWOX FSHB HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS CLIP2 WNT7A SALL4 RECQL4 NOG COLEC10 TBX15 CHSY1 EVC PAX3 MAF HOXA13 SF3B4 FGFR3 MAP3K7 TBX5 FGFR2 TWIST1 RRAS2 NRAS RASA2 BCOR APC NXN LETM1 COL11A2 ZIC1 FLNA XYLT1 MLXIPL RPL26 B3GALT6 PIEZO2 CPLX1 HDAC8 GDF5 PTPN11 B3GAT3 FBLN1 GTF2IRD1 MYH3 GTF2I NSD2 SETBP1 DONSON PITX1 PQBP1 NIPBL HOXA11 CANT1 COLEC11 POR ESCO2 RFC2 KMT2A TBX22 KRAS DYNC2LI1 MECOM GLI1 TFAP2B IHH GSC NONO EVC2 HOXD13 SOS2 TBL2 DHODH A2ML1 CTBP1 SOS1 RAF1 SMC1A KAT6B ROR2 SETD5 FGFRL1 LRP4 BMPR1B FLNB ELN MASP1 B4GALT7 BHLHA9 RRAS FGF16 SMOC1 BAZ1B PTDSS1 LIMK1 ANAPC1 RIT1 CYP26B1 CHST3 LZTR1 MACROH2A1 FGFR1 TCF12 FGF9 MRAS CBL RAD21 SMC3 ATP7A RBM8A HP_SYNOSTOSIS_OF_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_JOINTS MEOX1 CLIP2 SALL4 COLEC10 NOG CHSY1 COL2A1 ATP7A EVC HOXA13 SF3B4 FLNB FGFR3 MAP3K7 RRAS2 NRAS RASA2 BCOR FGD1 FANCI DNAL4 NALCN APC GDF6 ZIC1 CHRND XYLT1 MLXIPL EXT1 HES7 B3GALT6 PIEZO2 CPLX1 DCC HDAC8 FLNA GLI3 FBLN1 GTF2IRD1 GTF2I NSD2 SETBP1 DONSON PITX1 NTN1 TNNI2 POR RIPK4 RFC2 TBX22 PTCH2 MECOM GLI1 GSC GPC3 HOXD13 SOS2 ROR2 TBL2 DHODH A2ML1 CHRNA1 GDF5 MAFB SOS1 RAF1 SMAD4 SOX5 SMC1A SETD5 ACVR1 LRP4 SUFU DKK1 SOX2 BMPR1B FGFR2 MASP1 FGF16 SMOC1 PTDSS1 LIMK1 ANKRD11 ANAPC1 MYH3 PTH1R CYP26B1 CHRNG CHST3 KANSL1 MAF FGFR1 NADSYN1 TCF12 MRAS CBL FUZ SMC3 LMBR1 VANGL1 WNT7A RECQL4 FKRP TBX15 TBX6 PCNT PAX3 GDF3 TBX5 TWIST1 RBM8A SIX6 NXN LETM1 MKKS COL11A2 HGD OFD1 GPC4 RPL26 PTCH1 PTPN11 ENPP1 B3GAT3 PQBP1 NIPBL HOXA11 CANT1 COLEC11 ESCO2 KMT2A KRAS DYNC2LI1 TFAP2A TFAP2B EXT2 IHH DLL3 NONO EVC2 IL1RN BMPER CTBP1 ABCC6 RAD51 KAT6B FGFRL1 NOTCH3 CHN1 ELN AFF4 B4GALT7 BHLHA9 RRAS BAZ1B PUF60 RIT1 SALL1 TPM2 LZTR1 MACROH2A1 FGF9 TNNT3 RAD21 MYO18B TBX4 MESP2 HP_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SARCOMA EXT2 FLNA APC MLH1 CDKN1A BUB1B VEGFC AXIN2 PRKAR1A CDKN2A PAX7 SMARCE1 KCNH1 REST ELMO2 CDKN1B TSR2 FAS TP53 FLT4 SEC23B PLCD1 PTPRJ PIK3CA BUB1 EXT1 AKT1 GREM1 RPS19 DLC1 TSC1 TSC2 USF3 ADA2 COL1A1 ANTXR2 SRSF2 KLLN RPL35 RPL15 PRKCD WRN TET2 NRAS RPL31 BAP1 RB1 SMARCB1 IDH1 ASXL1 AURKA CASP10 PDGFB GATA1 RPL26 GDF5 SLC22A18 SDHD SUFU CHEK2 PTPN11 ATP6V1B2 BAX NF1 BRAF MLH3 DHCR24 IDH2 NUTM1 KIT HRAS EWSR1 NBN FGFR3 DICER1 ANAPC1 RASGRP1 SRC GJC2 MSH2 PTEN CTNNB1 MDM2 CBL RPS15A PTCH2 TAF15 FASLG SMO RPL27 BMPR1A RECQL4 TRAF7 TERT PDGFRL RSPRY1 MEN1 MAP2K1 CDC73 SPRED1 CDKN2C PDGFRB RPS17 SSX1 RPL11 SDHB IFNG BUB3 MSH6 CDKN2B FLCN ABCA5 PRLR KCNN3 RPL35A RPS10 RPS7 FH KRT17 CEP57 PTCH1 SDHC NOTCH3 ASPSCR1 SQSTM1 COL4A6 NF2 MCC KEAP1 GNAS MC1R CCND1 SOS1 SSX2 RPS24 DCC PAX3 RPS26 RPS28 NR4A3 FOXC2 COL4A5 RPS29 RPL18 RUNX1 BRD4 LMNA TRIP13 MTAP KRAS RPL5 TBX18 FOXO1 PLA2G2A SDHA RAD54B BMPR1B TLR2 RPS27 PTPN12 EP300 WT1 PDGFRA FAM20C PTH1R HP_LEIOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEIOMYOSARCOMA BUB1 MCC FGFR3 PDGFRL AXIN2 AURKA CCND1 SRC FLCN FH DLC1 DCC PLA2G2A AKT1 RAD54B TP53 CTNNB1 APC BUB1B TLR2 PIK3CA PTPN12 EP300 BAX MLH3 PTPRJ NRAS HP_FIBROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROSARCOMA BMPR1A GREM1 APC CTNNB1 PDGFB FOXC2 MTAP COL1A1 HP_METAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_DYSPLASIA TMEM165 GJA1 PIK3C2A SBDS MMP13 CDKN1C HDAC6 RUNX2 DNAJC21 POP1 SRP54 RMRP EFL1 GPX4 COL10A1 FGFR3 ACP5 EXTL3 CWC27 POLE LONP1 TGFB1 COL2A1 UFSP2 AIFM1 SFRP4 NKX3-2 PTH1R HP_SENILE_PLAQUES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENILE_PLAQUES VCP GRN MAPT PSEN1 TMEM106B ABCA7 APOE TREM2 C9orf72 CHMP2B PSEN2 PRNP HP_ECTRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTRODACTYLY MPZ SBF2 WNT7A CTDP1 SLC52A2 PMP22 DLL4 HMGA2 SEM1 GDAP1 CDH3 TP63 GNPTAB CTBP1 TBX5 BTRC MED12 NELFA ROR2 LETM1 ARHGAP31 FGFRL1 BSCL2 DOCK6 DLX5 NXN EPS15L1 FGFR1 EOGT BHLHA9 HINT1 MMP2 NOTCH1 PORCN IDS HSPB1 CPLX1 GLI3 FGFR2 RBPJ MORC2 EGR2 MBTPS2 DLX6 WNT10B PLAG1 NSD2 ITGB6 NEFL FGFR3 SVBP INF2 IGF2 IRF6 CDKN1C DHCR7 LSS JPH1 AHSG SIGMAR1 PRX ARSB TCTN3 HSD17B4 HP_PREAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_POLYDACTYLY WDR35 LMBR1 SALL4 FGFR2 C2CD3 SMO TMEM216 GLI3 KIAA0586 IFT43 CEP120 EXTL3 TMEM231 LETM1 RAB23 PHF8 DYNC2H1 RPGRIP1 GLI1 FLNA BHLHA9 CDC45 OFD1 CEP55 CILK1 KIF7 CC2D2A CPLX1 TCTN2 EFTUD2 MEGF8 HYLS1 COLEC10 FAM149B1 NSD2 HOXD13 B9D2 CPLANE1 TFAP2A PDE6D IFT57 CENPF DYNC2I1 B9D1 TCTN3 TMEM107 FGF10 ZSWIM6 KIAA0753 MAFB NEK9 NEK1 CTBP1 DACT1 NELFA WDPCP FGFRL1 TMEM67 GJA1 CHN1 DYNC2I2 MKS1 RPGRIP1L CSPP1 BMP4 PUF60 FANCD2 SALL1 IFT80 INTU FGFR3 CTU2 CEP290 SHH HP_POSTAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_POLYDACTYLY WDR35 IFT43 TBX3 GLI3 WDPCP EVC LZTFL1 C2CD3 HOXA13 KIAA0586 MKS1 CEP120 CD96 EXTL3 COG6 RAB23 USP9X IFT140 RPGRIP1 B9D2 TBX1 IFT27 CEP55 OFD1 BBS1 PIK3R2 MEGF8 HYLS1 BBS10 IFT172 DHCR7 ARMC9 HOXD13 RPGRIP1L DYNC2I1 HNRNPK KIF3B SETD5 C8orf37 KIF7 IFT80 NPHP3 TGFBR2 TTC21B GPC3 B9D1 TMEM107 TMEM67 GPC4 CIBAR1 INPP5E PRKACA TCTN2 GDF5 TMEM216 DYNC2H1 CEP290 DYNC2I2 DYNC2LI1 AKT3 PLAA SETBP1 SMOC1 BBS2 IFT81 BBS7 MBTPS2 INTU EVC2 CPLANE1 NEK1 ARL6 LBR NKX2-6 CTU2 LMBR1 IFT52 KIAA0753 SUFU UQCC2 SHH CCND2 WNT7A BBS9 CC2D2A NCAPG2 PDE6D DDX59 TMEM231 MKKS BHLHA9 PORCN CILK1 TGFBR1 GDF6 IQCE RBM10 EBP SYNGAP1 TRIM32 BBIP1 CHST11 BMP4 CCDC28B SC5D BBS5 BBS4 GLI1 IFT57 SMO GLI2 TCTN3 GATA6 FGFR2 BBS12 PRKACB TMEM237 NKX2-5 CSPP1 ALX3 PPP2R1A NPHP1 FLNA CRB2 WDR19 SDCCAG8 KIAA0825 BMPR1B TTC8 ZNF141 TMCO1 HP_MESOAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_POLYDACTYLY KIF7 CPLANE1 TMEM216 GLI3 CHSY1 TCTN3 PDE6D TWIST1 FAM149B1 KIAA0753 TFAP2B HOXD13 LZTFL1 OFD1 FGFR2 MKKS HP_ABNORMAL_TENDON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TENDON_MORPHOLOGY NOD2 NODAL UNC80 HES7 ACER3 NALCN PCSK9 ADGRG6 PEX5 COL6A1 SUZ12 SLC9A6 PMS2 KRAS IRF5 BICD2 DISP1 PHACTR1 CREBBP IDS NEDD4L TGFBR1 TRPS1 MAGEL2 TBC1D20 FAM20C FKTN GLI3 SLC29A3 MYL1 TBX15 RIC1 ITGB4 NEB NSDHL ASXL1 POMT1 DSE SIX3 ANTXR2 THOC6 NSUN2 RNU4ATAC BRAT1 LMNA MSH6 NEFL FIBP FUCA1 GARS1 ALG3 SYT2 SPEG PIGP LAMB3 EPCAM HOXD13 MLH3 ROR2 BRF1 TBR1 ITGA7 CHRNA1 DNM2 ZMPSTE24 FKBP10 GFM2 CLCF1 WDR11 CHAT CD244 MUSK COL6A3 MYOD1 RAPSN PYCR2 ERCC5 FBN1 SDHA CARS1 FITM2 ORC1 TSEN54 ERCC1 SATB2 PTCH1 GDF5 SHPK DLL1 RNF13 MYH3 SMARCAD1 HGD MSL3 GAS1 SGCA C12orf65 SMS PAX7 HUWE1 WDR73 TMEM70 KRT1 SIL1 HPDL ACTA1 YY1 GFPT1 DVL3 SLC18A3 CHRNG DPH1 PYCR1 MYBPC1 CHRNE VAMP1 PAX3 PLOD2 PIEZO2 ARL6IP1 SELENON GDAP1 MAF HSPG2 NCAPG2 TTN GLUL PIGA TRPV4 CHMP1A GBA2 TGDS TUBB3 HRAS GPKOW FUT8 RYR1 WNT7A RFC1 FKRP ACADS FDFT1 ALX3 MED25 POLD1 RPL10 CTDP1 DYM FHL1 CRKL ABCG8 MYH7 TDGF1 PIGS PIGL WIPI2 LAMA2 TNNT3 PDHA1 LMBR1 PQBP1 SAMHD1 TWIST2 RAB23 PEX2 EXOSC3 LARGE1 IGHMBP2 L1CAM SLC16A2 FLVCR1 ZBTB20 ERCC2 BIN1 GBA SRD5A3 DCX TACR3 LTBP4 DLL3 SIK3 TRAK1 GTF2H5 GLE1 KLC2 PLEC EXOSC8 MYL2 COL7A1 LGI4 FGF8 ACADM NSD1 CLIC2 NDUFAF4 GJA1 CAPN3 CHN1 TRPV3 FIG4 ATP6V1E1 LDLR B4GALT7 GLI2 PTPN22 PPP1R17 BMP4 ZEB2 KAT6B B3GALT6 LIFR CACNA1A SLC39A13 AIMP1 SPRTN FGFR1 MYPN SRPX2 OCRL ZIC2 ITGB6 PCNA DPAGT1 TPM2 ZC4H2 AIFM1 CCN6 EMG1 BMPR1A FBXW11 MORC2 RERE SEC31A VPS33B FLNA DOK7 COL2A1 RNF113A ERCC6 CAV1 LDLRAP1 KIAA0319L CAVIN1 MAFB ABCD1 F8 VPS53 XYLT1 TNNT1 POMK AMER1 TPM3 GAD1 SRCAP FUS ARX ITCH PIP5K1C FAN1 NUP188 SLC5A7 DLK1 ALG2 MYH8 PROKR2 ATAD1 NAA10 IKBKG POMT2 BHLHA9 EMD TPRKB ESCO2 COL11A2 DARS2 WDR45B PRG4 SLC25A19 RBM28 TMEM107 SLC25A46 KIF5A FBN2 OPA1 DST TGFBR2 EZH2 GPC3 ORC4 DYRK1A BCR LPIN2 ADAR KIF1A ATR PMM2 KCNJ6 DAG1 ALG14 MYOT COL6A2 ALG9 GCH1 ERLIN2 PSAT1 FOXP1 DMD PTRH2 EPHX2 SCN4A ERGIC1 IDUA PTH1R SMAD3 STIM1 RFT1 CCBE1 SETD2 CDK13 PSMB9 MBTPS2 CHST3 CCR6 CFL2 ZNF469 KCNN3 COASY KLHL9 KDM5C KCNK9 TBX3 FOXH1 MFN2 PEX6 COL12A1 ADAMTS3 GMPPB SPART SLC25A1 CRLF1 BAG3 SDHD UBA1 CUL4B NEK9 PLEKHG5 BCOR TBCD SLC2A10 SPG11 SHH KCNJ11 PLAA P4HTM NDE1 RTL1 ATRX PSTPIP1 PSMB4 TREX1 GAN SON CANT1 SGCG POR KBTBD13 CDON SLC26A2 HACD1 PRDM16 GRIA4 VMA21 TFAP2A ORC6 MLH1 MTX2 TARS1 NKX3-2 ADAT3 PPP2R5D PIK3CA PLXND1 GNPAT MED13L STAG2 COL11A1 C19orf12 RNASEH2A EP300 IBA57 GUSB TOR1A KLHL40 CPT2 STAC3 CDC45 MYO9A TFG PHF6 ERBB3 KLHL41 TGIF1 GNRH1 COL17A1 LFNG SEMA4A KLHL7 MT-TE MYO18B ADCY6 PLOD1 KISS1 DPM1 ABL1 RNASEH2B HSPD1 ABHD12 TRIP4 SMPD4 ELOVL4 MED12 SCYL2 KIAA1109 LONP1 WNT5A AP1S2 ABCG5 STAT3 FCSK KY SKI CHST14 CHRND ALDH18A1 ZNHIT3 MLXIPL ANKLE2 TNPO3 MAP3K20 KIF14 PDX1 PSMB8 MEG3 ATP6V1A MPDU1 SETBP1 HBA2 FGFR2 LSS NACC1 PRUNE1 CRYAB SLC1A2 SMC1A CRPPA TELO2 LAMA3 OTUD6B AUTS2 SNX14 DDR2 ALX1 CEP55 NGLY1 NXN CDC6 SNAP25 CHRNB1 MAP3K7 SDHAF1 UFC1 SYNE1 UPF3B CDH3 HINT1 HIKESHI DHCR24 TP63 PTDSS1 WDR4 MTM1 MPLKIP NUP88 GCK SLC39A14 SIGMAR1 CCDC47 CDT1 COL1A2 AGRN ADAMTSL2 NARS1 KIF5C RNASEH2C DCHS1 FZD2 TGM1 COQ7 PROK2 IFIH1 TNNI2 SPRY4 USP7 PI4KA CNTNAP1 PRDM5 FAT4 COL13A1 KL COG5 FGFR3 VIPAS39 POLR3A CACNA1E ALG8 EED MESP2 ALS2 SMG9 GBE1 GPC4 COL3A1 SLC39A8 PNPT1 IL6ST KISS1R MTMR14 B3GAT3 NLRP3 LEMD3 PEX7 VRK1 PIK3R2 CTCF TP53RK MAPK1 KCNAB2 PLP1 TAC3 RIPPLY2 HBA1 FGF17 DNA2 AHSG GNRHR GNPTAB PIGY PPT1 CDC42 ERCC8 OSGEP SLC35A2 TCTN3 PRKCG WDR26 ADGRG1 DPM2 RAB3GAP2 ZDHHC9 SLC12A6 GABRD LAMC2 MMP1 NT5C2 CCN2 APOE PEX1 EXOC7 COG1 H1-4 ANOS1 SLC10A7 AP4E1 SDHB NFKBIL1 CNTN1 ORAI1 EXOSC9 PIK3C2A RAB18 PADI4 ERCC4 GORAB TMEM43 REV3L DUSP6 SH3PXD2B FGD1 MYMK EXTL3 APOA2 KIF15 ABCC8 VPS33A ERLIN1 NUP133 NSMF MRPS34 GTF2E2 MEGF8 LIAS MEGF10 FLRT1 AP4B1 ARID1B CCDC22 CYP27A1 GJB2 GSC SEPSECS NKAP LMOD3 ASAH1 PHGDH SPTBN4 ANO5 DDHD2 ASCC1 SMAD4 PIGN ZNF335 TTPA MYH2 SOX10 POU3F4 MMP2 NOG SMOC1 SYNE2 CHD7 GRID2 DVL1 GHR VPS11 AIMP2 PLOD3 RTTN ALG1 DNAJB6 SLC22A4 MSH2 ECEL1 GMNN TAPT1 NIPBL ERCC3 SCARF2 PITX1 ZBTB42 TRIM2 PPP3CA GJB1 EXOC8 CDK5 ALG13 UROS BGN BRPF1 APC2 SLC1A4 SLC6A9 DHODH DEGS1 ACTG2 HLA-DRB1 SALL4 APOB FERMT1 BANF1 GNS UCHL1 HS6ST1 IARS2 SLC35A3 SNRPB PLA2G6 AP4S1 PMS1 LAGE3 ELN INS TBX4 ITGA6 EFNB1 FLVCR2 DHX16 RPS20 SYT1 IL10 POP1 TOR1AIP1 PORCN NUP107 CIITA SVIL ECE1 HP_SYNOSTOSIS_INVOLVING_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_DIGITS PTDSS1 NOG RECQL4 GDF5 TFAP2B ANAPC1 CHSY1 BMPR1B PCNT BHLHA9 IHH PQBP1 HP_DISTAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM GDF5 NOG IHH TFAP2B BMPR1B PCNT HP_PROXIMAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_SYMPHALANGISM PTDSS1 NOG GDF5 CHSY1 BHLHA9 PQBP1 HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS HOXD13 GDF5 TCF12 FGF9 ZIC1 FGFR3 TWIST1 FBLN1 SALL1 NOG BHLHA9 PQBP1 FGF16 NONO SMOC1 HP_SYNOSTOSIS_OF_CARPALS_TARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPALS_TARSALS FGFR2 LMBR1 HOXD13 SALL4 NOG B3GALT6 CHSY1 EVC PAX3 RECQL4 HOXA13 FGFR1 MAP3K7 ROR2 ATP7A NALCN GDF5 APC LRP4 FGFR3 NXN MKKS BMPR1B COL11A2 FLNA FLNB BHLHA9 OFD1 GLI3 MYH3 FBLN1 TPM2 PITX1 MACROH2A1 EVC2 TNNI2 POR ESCO2 SMOC1 DYNC2LI1 TNNT3 GLI1 TBX4 GDF6 RBM8A HP_LIP_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIP_PIT IRF6 RIPK4 SIX1 NECTIN1 TFAP2A TP63 EYA1 GRHL3 KMT2D KDM6A MSX1 OFD1 HP_NEOPLASM_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_COLON BMPR1A POLE TP53 APC MLH1 BUB1B PRKAR1A PMS1 CDKN2A POLD1 TGFBR2 PMS2 KRAS TSR2 PALB2 FOXE1 MSH2 RPS17 MINPP1 RPL11 SDHB COL14A1 RPS19 BUB1 GREM1 BUB3 FAN1 MSH6 SMAD4 AXIN2 ADA2 RPL35A RPS10 RPL35 RPL15 RPS7 ENG PALLD KIT RPL31 CEP57 MUTYH EPCAM MLH3 DMPK PIK3CA NTHL1 BRCA1 RNF43 FLCN RPS24 GATA1 RPL26 RPS26 RPS28 CHEK2 RPS29 RPL18 HABP2 RPS20 SDHC TRIP13 STK11 SMAD7 RPL5 SDHA SH3KBP1 AAGAB BRCA2 MDM2 RPS27 MSH3 PTEN SEMA4A RPS15A BLM PDGFRA RPL27 HP_DIFFUSE_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBELLAR_ATROPHY EMC1 TXN2 GTF2H5 KIF1A TBC1D24 CARS2 MPLKIP GTF2E2 PEX10 DAB1 ERCC3 RNF113A ERCC2 FMR1 BTD TARS1 HP_SKIN_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PIT IRF6 B3GLCT JAG1 KDM6A TFAP2A PLCB4 AUTS2 GPC3 KAT6A EYA1 GATA4 GPC4 SIX1 MSX1 CTBP1 XYLT2 PAX1 SPECC1L ZFPM2 RIPK4 FGFRL1 TBX1 GATA6 KCNJ2 GATA5 SUFU LETM1 HNRNPK KMT2D MITF OFD1 GJA5 CPLX1 NECTIN1 EDNRA PTCH1 EIF2AK3 ZNF462 GDF1 GRHL3 NKX2-6 NKX2-5 SALL1 NSD2 HK1 UBE2A EDN1 GNAI3 RAB23 TP63 ATP2A2 ANK1 PTCH2 STAG2 GSC FLT4 CITED2 CIB1 HP_PERIAURICULAR_SKIN_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIAURICULAR_SKIN_PITS B3GLCT JAG1 KDM6A TFAP2A PLCB4 AUTS2 GPC3 KAT6A EYA1 GATA4 GPC4 SIX1 CTBP1 XYLT2 PAX1 SPECC1L ZFPM2 FGFRL1 TBX1 GATA6 KCNJ2 GATA5 LETM1 HNRNPK KMT2D MITF GJA5 CPLX1 EDNRA EIF2AK3 ZNF462 GDF1 NKX2-6 NKX2-5 SALL1 NSD2 HK1 UBE2A EDN1 GNAI3 RAB23 ANK1 STAG2 GSC FLT4 CITED2 HP_ULCERATIVE_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULCERATIVE_COLITIS MST1 NOD2 CYBC1 PLCG2 BACH2 TCF4 MASP2 MAP3K7 GPR35 IL6 INAVA HP_CROHN_S_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CROHN_S_DISEASE NOD2 CYBC1 PSTPIP1 IL10RA BACH2 IGHM MEFV IL6 INAVA CTLA4 HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION AK9 CHRNE MUSK VAMP1 CHRNA1 GFPT1 LRP4 ALG14 DPAGT1 SLC25A1 CHRND SCN4A ALG2 TTN CHAT GMPPB CACNA1D SNAP25 COL13A1 LAMB2 COLQ CHRNB1 SLC5A7 DOK7 RYR1 MYO9A NOTCH2NLC AGRN RAPSN SYT2 SPEG SLC18A3 BIN1 HP_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_ATROPHY CHRNE VAMP1 TK2 ANO5 TPM3 ALG14 MYL2 TRIP4 ITGA7 SLC25A1 TMEM43 SELENON CHAT LMNA SNAP25 COL13A1 IFIH1 LAMB2 ACTA1 STIM1 HNRNPK STAC3 ACTN2 ALS2 HNRNPA2B1 COLQ SPG11 CASQ1 MAP3K20 SLC5A7 EMD FUS PNPT1 MYO9A SARS2 MYH7 POLG SYNE2 SIGMAR1 LAMA2 AGRN HACD1 TRAPPC11 ORAI1 CNBP FHL1 CPT2 TPM2 VPS13A SYT2 RYR1 SYNE1 GFPT1 CHRNA1 PLOD1 SLC18A3 TTN HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE COL6A3 LAMA2 COL6A1 COL12A1 MYOT ANO5 GIPC1 COL6A2 MYH7 SGCG TOR1AIP1 HP_MUSCLE_FIBER_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_INCLUSION_BODIES GFPT1 KLHL41 FLNC DPAGT1 ACTA1 NDUFB3 ALG2 HNRNPA1 GMPPB GNE KLHL40 NEB MYH2 STIM1 TPM2 PYROXD1 TNNT1 TPM3 RYR1 LMOD3 CASQ1 CRYAB KBTBD13 MYPN CFL2 ORAI1 ALG14 NEFL MYO18B MYOT HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS GFPT1 ORAI1 CASQ1 ALG14 STIM1 DPAGT1 ALG2 GMPPB HP_CEREBRAL_CORTICAL_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_HEMIATROPHY MYO5A ACTB EHMT1 MBTPS2 ACTG1 TCTN3 HP_SUBDURAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBDURAL_HEMORRHAGE GCDH F8 ERCC8 MMACHC ERCC6 HP_CEREBRAL_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_INCLUSION_BODIES PRDM8 C19orf12 VCP ABCA7 PLAU APOE SNCB NHLRC1 LRRK2 TBP SNCA NR4A2 PLA2G6 GBA A2M ATXN8OS VPS35 FBXO7 PSEN1 DNAJC13 HFE EPM2A MAPT TREM2 TOMM40 GLUD2 PSEN2 VPS13C APP NPC2 HNRNPA2B1 GRN GIGYF2 ATXN2 EIF4G1 NOS3 RAB39B ADH1C MPO SORL1 SNCAIP NPC1 ITM2B HNRNPA1 PRNP HP_LEWY_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEWY_BODIES C19orf12 GRN GIGYF2 ATXN2 EIF4G1 SNCB LRRK2 TBP SNCA NR4A2 RAB39B ADH1C GBA PLA2G6 ATXN8OS SNCAIP VPS35 FBXO7 DNAJC13 MAPT GLUD2 VPS13C HP_ABNORMALITY_OF_THE_DENTATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTATE_NUCLEUS PDGFB FTL WDR81 ERCC8 SLC20A2 PDGFRB CYP27A1 ATN1 CP ERCC6 HP_JUVENILE_ASEPTIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ASEPTIC_NECROSIS COMP EXT1 SMAD3 COL1A2 ACTG1 ATP7A COL2A1 TRPS1 CREBBP SIL1 TREX1 EP300 DVL1 WNT5A MATN3 ACTB PHF6 ACAN TRPV4 COL1A1 FZD2 INPP5K FGFR1 DYRK1A DVL3 KRAS UFSP2 SLC2A10 ORC1 ADAMTS2 HP_SCLERODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLERODERMA UROD LEMD3 CLCNKB UROS PAH WRN SLC29A3 SLC12A3 LMNA HFE LBR POLD1 HP_IMMUNOLOGIC_HYPERSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNOLOGIC_HYPERSENSITIVITY ALOX5 MST1 IL12A ADRB2 DDX41 ZIC2 SHH USP7 TBX1 FGFR1 PEX5 CASP8 ELOVL4 SPINK5 CARD11 FCGR2A CTLA4 SIX3 CARMIL2 SPIB NEK9 SCGB3A2 COMT UFD1 SCN4A MLXIPL CCR1 DOCK8 MMEL1 ERCC2 BBS1 ADA IDS STAT3 STAT4 LIG4 PGM3 IL6ST SEC24C DISP1 SOX6 IL23R PSTPIP1 GP1BA IL10 CDSN RIC1 FAS CCDC151 CCDC28B GP9 CREBBP DLL1 MS4A2 WAC RREB1 COX4I2 NKX2-1 SRSF2 MUC7 TNF LRBA TBCK HLA-G IL13 TET2 NODAL HIRA TRAIP EP300 VPS51 STXBP1 CHD1 CDH3 PEPD GPR35 IL12RB1 GP1BB SUFU SIK3 TGIF1 SRCAP NSUN2 HMGA2 ERAP1 IVNS1ABP TLR4 NRXN1 ASXL1 PLCG2 NFKB2 TGM5 PTGER2 PLA2G7 GLI2 FOXP3 ODC1 GAS1 ARVCF CFTR CSTA LMX1B POU2AF1 FGF8 TGFB1 SDHD GTF2H5 FOXP1 UBAC2 ELN CDON JAK1 TDGF1 AFF4 TALDO1 RUNX1 BCL11B STAT5B CCL11 TBX21 NOD2 MTOR MEFV HLA-B CNTNAP2 FLG LIFR IRF5 TNPO3 TNFSF15 KLRC4 DNASE1L3 IL4R HNMT PLAG1 FOXH1 GRHL2 SATB2 IGF2 PTCH1 ARL6 CDKN1C IL12A-AS1 ALMS1 CBL C4A JMJD1C TCF4 RBM8A HP_UNILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_LIP SUMO1 SMAD4 TAPT1 HYLS1 KIF7 HP_UNILATERAL_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_PALATE TP63 IRF6 SUMO1 ARHGAP29 BMP4 CDH1 CDH11 DLX4 MSX1 DLG1 NECTIN1 HP_NON_MIDLINE_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_LIP NBN CTNND1 NECTIN1 TFAP2A TAPT1 SPOP YAP1 SMPD4 ITGA8 FGF20 PTCH1 SMAD4 TP63 IRF6 DDX59 MSX1 HOXD13 KIF7 DHODH SF3B4 PIGN RET GJA1 DLX4 FGFR1 HYLS1 GLI2 GREB1L RSPO2 CDH1 SUMO1 HP_BILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP CTNND1 NECTIN1 SPOP YAP1 SMPD4 DLX4 PTCH1 GLI2 RSPO2 CDH1 TP63 IRF6 MSX1 HP_NON_MIDLINE_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_PALATE CTNND1 NECTIN1 IRF6 BMP4 CDH1 CDH11 DLX4 SLC26A2 SPOP YAP1 PTCH1 GLI2 TP63 SUMO1 ARHGAP29 MSX1 DLG1 HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS NOD2 FLNA HES7 NALCN DOK7 COL2A1 FGFR3 MED12 PEX5 TMEM43 CAV1 FBN2 CCR6 KIAA0319L TNNI2 WNT5A SH3PXD2B FGD1 EXTL3 IRF5 MAFB SELENON TPM2 SKI RNU4ATAC ACTA1 SLC26A2 PIEZO2 ALDH18A1 XYLT1 ASXL1 TNNT1 AMER1 SUZ12 MAP3K20 TGFBR1 TRPS1 SRCAP FUS NUP133 COL12A1 FKTN PSMB8 MEG3 COL6A3 TBX15 LAMA2 HSPG2 MEGF10 DLK1 HOXD13 NAA10 ARID1B IKBKG EMD ZMPSTE24 TPRKB POR ESCO2 COL11A2 LMNA PRG4 FHL1 FGFR2 SMAD3 ALG3 KIF5A GJB2 COL6A2 LAMB3 TGFBR2 EZH2 GPC3 ORC4 DDR2 DYRK1A ERCC2 BCR ROR2 ATR LAMA3 TBR1 ANO5 AUTS2 LIFR ITGA7 ALX1 UNC80 COL11A1 MYH3 CLCF1 ERCC6 ERLIN2 CDC6 GTF2H5 MUSK ITGB4 ERCC5 UPF3B CDH3 PTRH2 DVL3 HINT1 MMP2 NOG TGDS ORC1 DHCR24 TP63 IDUA SMOC1 PTDSS1 WDR4 CCBE1 FLVCR1 SETD2 NUP88 MYOD1 SYNE2 MBTPS2 CHST3 SIGMAR1 FBN1 DVL1 CDT1 PHGDH L1CAM SMARCAD1 SHH ADAMTSL2 ERCC1 PLOD3 KDM5C KCNK9 WDR73 TMEM70 TBX3 FZD2 ECEL1 COL6A1 CRLF1 CHRNG GMNN PYCR1 PEX6 PAX3 ERGIC1 PLOD2 BCOR ADAMTS3 NIPBL FKBP10 SCARF2 PITX1 UBA1 CUL4B TRPV4 NXN LMBR1 COG5 TUBB3 GPKOW PLEKHG5 MYBPC1 SMC1A EED WNT7A IDS MESP2 ALS2 SMG9 FDFT1 GPC4 ALX3 MED25 SLC39A8 CTDP1 SLC29A3 GJA1 P4HTM IL6ST CRKL UROS GDF5 RTL1 PSTPIP1 B3GAT3 APC2 NLRP3 PIGL SLC6A9 TNNT3 PQBP1 TWIST2 CTCF CANT1 DHODH RAB23 LARGE1 TP53RK MAPK1 HACD1 KCNAB2 PRDM16 IGHMBP2 POLR3A RIPPLY2 TFAP2A ORC6 ACTG2 SRD5A3 HLA-DRB1 KY ADAT3 FERMT1 DLL3 TCTN3 SIK3 RAPSN TPM3 MYL2 PIGY SLC35A3 LGI4 SNRPB C19orf12 ZDHHC9 GLI3 SLC35A2 NSD1 FAT4 LAGE3 CAPN3 CCN2 OSGEP MAP3K7 TOR1A CPT2 SPG11 SLC16A2 BMP4 EFNB1 CDC45 KAT6B SLC18A3 GABRD SLC39A13 LAMC2 DHX16 SPRTN PEX1 COL17A1 OCRL ANTXR2 RTTN PORCN LFNG CCN6 EMG1 KLHL7 SYNE1 FBXW11 CNTN1 NUP107 MORC2 PLOD1 PIK3C2A RERE SVIL ECE1 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_5TH_TOE SOX11 ARID1B SOX4 SMARCA4 SMARCB1 DPF2 ARID1A SMARCD1 KCNN3 ARID2 SMARCC2 SMARCE1 HP_ABNORMALITY_OF_LOWER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT KDM6A CLIP2 EXT2 COMP NODAL NFIX PUF60 SOX4 GPHN EVC AP4M1 XYLT1 ADGRG1 COL6A1 ATRX PRMT7 SF3B4 MAP3K7 KIF5A BRCA1 BICD2 DISP1 RTN2 GLB1 CTNS GABRG2 B3GALT6 KIF22 HDAC8 GLI3 SLC12A2 GBA2 SPART DYM NSD2 SLC35A3 DHCR7 CBS NSDHL FANCM SIX3 COL10A1 TNNI2 CDT1 GNPTG RNU4ATAC KIAA0586 FN1 SYT2 EP300 UFSP2 GLI1 BPTF ALDH18A1 HOXD13 TBL2 DHODH SHOX ALG9 ITGA7 GFM2 ZFYVE27 XRCC2 GP1BB DSTYK LMX1B COL6A3 HERC2 PYCR2 FBN1 SDHA CARS1 GPC6 IHH NF1 SYNE1 ORC1 VAC14 LIMK1 PTCH1 GDF5 RPS15A DLL1 MYH3 GRIA3 MBTPS2 GAS1 CLCN7 CCDC8 CHAT GATA1 TRPS1 COL2A1 HYAL1 GABRD GMNN HUWE1 NPAP1 ENPP1 RAD51 YY1 GALC SMC3 EFEMP2 SNORD116-1 TNFSF11 SLC18A3 VAMP1 PLOD2 CENPT ARL6IP1 FKBP10 RECQL4 KIF7 HSPG2 COL11A1 BPNT2 RBM8A IFT172 TRPV4 CHMP1A NEB EIF4A3 FANCD2 COMT DYNC2H1 MKKS FUT8 POMT1 MKRN3 SNORD115-1 WNT7A TBC1D7 FDFT1 SOD1 RPL10 SHROOM4 EIF2AK3 TDGF1 UBE3A SMARCD1 NOG AP4S1 RAB23 COL1A1 EXOSC3 CYP7B1 MAP2K1 DONSON DYNC2LI1 EXOC6B ZBTB20 C12orf57 AP4B1 SLC34A3 SCN1B AIFM1 SRD5A3 SLC6A5 GDF6 AKT1 NONO SIK3 ZSWIM6 CANT1 MYL2 COL7A1 TRIP11 HACE1 HS6ST1 AEBP1 LGI4 FGF8 OBSL1 ATP7A FLNA NSD1 FHL1 FA2H LAMB2 CAPN3 FANCC FLNB FIG4 KMT2D ATP6V1E1 NDN ARID1A B4GALT7 GLI2 GEMIN4 DYNC2I1 ZEB2 VDR ELN LIFR NOD2 FGFR1 DDRGK1 OCRL ZIC2 CUL7 SMARCC2 ATP6V0A2 MAD2L2 CCN6 FGF9 PYCR1 SELENOI MYH8 SNRPN LMNA SEC31A SCN9A ACTA1 COLEC10 HPGD SERPINF1 FGFR3 ZNF469 FZD2 CD96 NALCN APC USP9X ABCD1 UFD1 PIGL CYP27B1 SLX4 AMER1 NANS GTF2IRD1 DNAJC21 AP4E1 ESCO2 DMP1 RFC2 PALB2 TMTC3 NRAS TGFB1 TGFBR2 EZH2 GPC3 ORC4 DYRK1A ATR ORC6 DAG1 STX1B TNNT3 COL6A2 UNC80 WNK1 RMRP ERCC6 SMARCE1 ERLIN2 PSAT1 LRP4 TPM2 PTRH2 MCTP2 PTH1R SMAD3 COL9A1 SETD2 EFL1 NEPRO FANCE CHST3 CFL2 SCN2A KLHL9 COL5A1 INPP5K MAP1B JMJD1C FOXH1 CRTAP BMPR1B ATP6AP2 ANO10 CYP19A1 RSPRY1 SLC25A1 BAG3 SDHD KRAS IARS2 REEP1 STUB1 PORCN MYH7 SPG11 SHH HBB SOX11 EBP PSTPIP1 TPM3 GAN ZC4H2 NIPBL ACAN FANCB CDON HACD1 FGFR2 WDR35 LONP1 RYR1 COLQ MTX2 COL9A3 NEDD4L NKX3-2 FANCF SATB2 PRKACB PPP2R5D TBCD ERMARD STAG2 C19orf12 COL12A1 ARVCF RINT1 FLI1 SERPINH1 COX8A CDC6 GUSB TOR1A CPT2 AFF4 HRAS CSPP1 BAZ1B CDC45 MYO9A SCN1A FANCL PHF6 BHLHA9 SALL1 TIMM8A KLHL41 EVC2 TGIF1 KIF1A OCA2 MYO18B TBX4 PLOD1 DPM1 MMP13 HTT FBLN1 VEGFC COL5A2 FBN2 TBX1 ARFGEF2 WNT5A ARID2 BCOR KY ATL1 FLT4 LMBR1 SKI LOXL3 GLRB PIEZO2 GMPPB COL1A2 ANKLE2 MAP3K20 CAPN1 CYP2R1 CPLX1 SEC24C PSMB8 ATP6V1A GTF2I COL9A2 FBLN5 MATN3 CLTCL1 SMC1A TELO2 MIR140 PCDH19 DDR2 GLRA1 NGLY1 MAFB SELENON SNAP25 GPX4 SDHAF1 PHEX CREBBP SFRP4 PWAR1 PTDSS1 GJC2 SLC39A14 CCDC47 KANSL1 AGRN ERCC1 SMARCAL1 SOX9 NOTCH2 IFT52 SLC26A2 MEGF8 ADAMTS2 POMT2 CHRNG GNPTAB DPF2 COL13A1 COG5 IFIH1 LETM1 PSAP OFD1 GPC4 CHRM3 LARGE1 SLC39A8 PNPT1 GJA1 IL6ST PKDCC CHST11 B3GAT3 PSMD12 PEPD PIK3R2 PTEN COLEC11 IFT57 SMO ERCC4 STXBP1 CA2 AARS1 ATAD1 HOXA11 RUNX2 PIGY PAFAH1B1 ABCC6 OSGEP ADGRV1 SLC35A2 KAT6B EXT1 PUS3 GORAB CLCN5 MMP1 SLC35D1 NT5C2 IDUA GABRA1 UBE2T SLC10A7 SDHB PIGT UGP2 YWHAE RAD21 INPPL1 SMARCB1 CSGALNACT1 RAB33B FKRP RAB18 CHSY1 CENPJ TONSL MFN2 CEP120 ALG2 SH3PXD2B FGD1 EXTL3 NIPA1 CTC1 HCN1 ARID1B ERLIN1 THRA ARF1 SLC52A3 VPS13B RREB1 POR RPL13 SPAST HIRA POLR1A GJB2 GSC ASAH1 MAN2B1 SPTBN4 GFPT1 ANO5 RAB3GAP2 SLCO2A1 FANCI TIMM22 EYA1 NLRP3 PRKACA PITX1 PIGN SETD5 SMARCA4 COG1 RAD51C DVL3 POU3F4 MMP2 SLC2A10 LMOD3 SLC5A7 SMOC1 THOC2 ANAPC1 NDUFAF6 DVL1 MYOT MASP1 COL3A1 MAGEL2 NTRK1 TUBB3 ECEL1 CHD4 MAP2K2 CTDP1 TBX15 SCARF2 SIL1 CNTNAP1 TRIM2 BRIP1 BRAF GALNS SLC29A3 BGN APC2 SAMD9L SLC6A9 AP3B1 KMT2A ALG14 ZMPSTE24 WASF1 TCTN3 UCHL1 DPAGT1 CTBP1 SNRPB CYP3A4 BRCA2 PWRN1 KAT6A VPS33A MCOLN1 FGFRL1 SIX1 DHX16 HK1 RETREG1 FLNC RFWD3 FANCG TOR1AIP1 RTTN FANCA DYSF TRAPPC12 ARSB ARNT2 SVIL UBE3B HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET SLC29A3 CHRNG FLNA PPP2R5D NOD2 MMP1 PSMB8 NT5C2 LIFR FGFR3 PHF6 HSPG2 SCARF2 COL7A1 MYH3 PIGN GLI3 BCOR ERCC1 ERLIN2 FHL1 PIEZO2 AMER1 MMP2 HP_ABNORMAL_MAST_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAST_CELL_MORPHOLOGY KIT SRSF2 LYST TET2 ASXL1 CBL CYP26C1 RUNX1 HP_MASTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASTOCYTOSIS KIT SRSF2 TET2 ASXL1 CBL RUNX1 HP_DEVIATION_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_TOES CLIP2 ITCH FLNA CHSY1 XYLT1 RSPRY1 SCARF2 AEBP1 HOXA13 SF3B4 BMPR1B FGFR3 DMD ZNF81 FGFR2 TWIST1 GDI1 PAK3 PRDM5 TRMT10A EIF4A3 KMT2E USP9X MYH3 MYT1L COG8 MLXIPL SYP TRMT1 MECP2 ACTL6B FGFR1 DLEC1 B3GALT6 MID2 FBXW11 SLC29A3 SVBP PSMB8 ARHGEF6 ERMARD MED13 GBA CHST11 B3GAT3 BMP2 GTF2IRD1 RPS6KA3 AGTR2 ZNF711 GTF2I ZEB2 CREBBP COL1A2 KCNN3 PTEN ACTL6A KCNH1 TANC2 CNKSR2 ERF RFC2 SLC16A2 ALG3 EP300 DLG3 GDF5 PIGH CLCN4 SRY AKT1 WWOX NONO ALG13 CDKL5 TBL2 NUP107 DOCK3 ZNF41 DDX6 RLIM DYRK1A PTCHD1 BPTF USP7 UPF3B ZMIZ1 TSPAN7 RAB39B TCF12 DACT1 KAT6A ACVR1 SLC9A7 KCNJ2 RNF6 PPP1R15B FLI1 FHL1 FRMPD4 IQSEC2 ATP6V1B2 ELN PSMD12 USP27X ARX CXorf56 TP63 BCORL1 C2CD3 BAZ1B LIMK1 SALL1 NTNG1 TCF20 CHST3 IL11RA MED12 ZNF469 CKAP2L TGFBR2 ACSL4 IL1RAPL1 FGF9 HOXD13 FTSJ1 HCFC1 WDFY3 YY1 ATL3 TRAPPC4 SATB2 RBBP8 HP_VITAMIN_B12_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITAMIN_B12_DEFICIENCY CUBN GUCY2C GRM7 AMN LMBRD1 HP_LOW_LEVELS_OF_VITAMIN_B1 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_B1 UCP2 KCNJ11 DLAT SIM1 ABCC8 HP_ABNORMALITY_OF_VITAMIN_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_METABOLISM CUBN MST1 LRP5 MTHFD1 CYP7A1 MMAA RPL11 CTNS RNF13 LMBRD1 GALNT2 MTRR MMADHC COL7A1 UCP2 CBLIF CASP10 EFL1 CYP3A4 FARSB ACOX2 FGF23 SAR1B FAS TTPA KL MCEE KCNJ11 MMACHC CCND1 SBDS SIM1 ABCD4 GUCY2C DZIP1L SLC30A10 HCFC1 EPHX1 SRP54 GALT VDR IARS1 OCRL MMAB DLAT CLCN5 MMP1 RPS10 RASGRP1 BAAT GRM7 ABCC8 CCN6 CYP2R1 SLC34A3 SUCLA2 DNAJC21 PKHD1 BCO1 ACSF3 AMN MTR DMP1 PRKCD ENPP1 MTTP CYP27B1 TJP2 TCF4 PRDX1 GPR35 SLC52A1 MMUT FASLG HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM VDR IARS1 MST1 LRP5 OCRL CLCN5 MMP1 RPS10 RPL11 CTNS GALNT2 CYP2R1 SLC34A3 COL7A1 EFL1 CYP3A4 DNAJC21 PKHD1 FARSB ACOX2 FGF23 DMP1 KL ENPP1 MTTP SBDS CYP27B1 DZIP1L TCF4 GPR35 SRP54 GALT HP_LOW_LEVELS_OF_VITAMIN_D http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_D MST1 OCRL MMP1 MTTP RPS10 RPL11 SBDS GALNT2 COL7A1 DZIP1L TCF4 EFL1 GPR35 DNAJC21 PKHD1 FARSB ACOX2 FGF23 CTNS SRP54 GALT HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM MST1 TTPA CYP7A1 MTTP SBDS DZIP1L SLC30A10 TCF4 EFL1 GPR35 DNAJC21 PKHD1 SRP54 HP_POLLAKISURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLLAKISURIA ALDH18A1 NBN DYSF FMR1 HOGA1 FA2H BNC2 HP_DYSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSURIA CARMIL2 HMBS HPRT1 CISD2 AIP AGXT SPART LAMC2 WFS1 BNC2 GPR101 LAMA3 HOGA1 LAMB3 ALMS1 HLA-B IKZF1 APRT HP_ANURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANURIA C3 AGT REN THBD CFHR1 ACE CFH CD46 CFI CFHR3 CFB AGTR1 HP_OLIGURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGURIA HLA-DRB1 IRF5 CCR6 CAV1 DZIP1L SLC25A20 PKHD1 CCN2 APRT HP_NEOPLASM_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYMUS CDKN1B MEN1 CDKN2C CDKN1A CDKN2B AKT1 PTEN HP_LIVER_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIVER_ABSCESS CYBB CYBC1 IRAK4 PKHD1 NCF2 NCF1 CYBA CTSC NCF4 HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION ALPL GATM GALNT3 CTNS TNFRSF11B GNAS-AS1 NRAS CDC73 STX16 KL CASR FGF23 GNAS TCIRG1 CYP27B1 ENPP1 HNF4A RYR1 TNFSF11 GNA11 STAT6 CYP2R1 OCRL FAM20C SLC9A3R1 SLC34A1 SLC34A3 PTH COL4A3 TBCE PDE4D DMP1 MEN1 ABCC6 ALDOB CACNA1S HRAS KRAS CLCN5 CLCN7 PGAP2 FAM111A GABRA3 VDR GCM2 CYP3A4 NDUFAF6 SLC2A2 PHEX PTH1R PRKAR1A FAH KCNJ18 NAB2 SNX10 AP2S1 INPPL1 EHHADH HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL SDHD CLDN19 GNAS CDKN1B CDKN1A MAX MDH2 CDC73 CYP3A4 AIRE RET GNAS-AS1 STX16 CDKN2C KL TBX1 VHL CYP27B1 PDE4D NF1 SDHC DLST PRKAR1A VDR RNU4ATAC TMEM127 OCRL SDHA CDKN2B SLC25A11 SDHAF2 CYP2R1 FH SLC34A3 SOST PTH MEN1 GCM2 CASR FAM20A SDHB PHEX KIF1B HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE NOD2 TP63 FOXP1 IL6 MBTPS2 SAMD9 ERCC4 PAX6 RNF113A ERCC6 CD19 PNPLA1 REV3L HLA-DRB1 ICOS FAS TCF3 BTNL2 XPC DDB2 BTD RTEL1 SCN9A SLC35C1 VPS33A BCL10 PLCD1 PTPN2 STAT4 FGFR2 TERT B2M HDAC8 TFRC GTF2E2 IL23R PSMB8 ALOXE3 IL10 NCF2 GSN IKBKG HLA-A ERF CD79B PRKCD GNAS ATOH7 IL12B TRAF3IP2 TNFRSF1A CLTCL1 GJB2 IGHM NLRP3 CR2 CYBC1 ZEB1 GNAQ CASP10 TGM1 SMC1A IL2RA PIGN BAP1 SETD5 BTK CYBA ADAM17 UBAC2 SLC39A4 FOXE3 NCF1 XPA ERCC1 LACC1 ANKRD55 LRRC8A CD247 NLRP1 MPLKIP DNASE1L3 RASGRP1 UROS PSMB9 AIRE MSMO1 IL12A CERS3 GJB6 HLCS STX11 CTC1 WRAP53 IL12A-AS1 MALT1 IL2RB IGSF3 NHP2 C4A POLH BLM SMC3 DKC1 MAB21L1 IKZF1 FASLG PKP1 MST1 MLX SF3B1 LBR ERCC3 TKT CRLF1 PTPN22 EGFR SREBF1 TERC ABCA12 MIF WIPF1 STX16 TNFRSF13C WAS USB1 CCR1 RNF125 ERCC2 STUB1 BLNK FOXC2 SLC29A3 ERCC5 IL6ST PSMB4 ST14 AP1B1 NIPBL FGFR3 PRTN3 KMT2A LRBA PARN CAPN5 RAG1 APOE TARS1 GPR35 MMP1 FERMT1 COL4A6 GTF2H5 TNFAIP3 TINF2 NPM1 ERAP1 TLR4 PLXND1 CST6 IARS2 NIPAL4 AEBP1 ERCC8 GATA1 HLA-DPA1 KAT6A CYBB CD27 TNFRSF13B PLG COL4A5 IGLL1 COL7A1 CYSLTR2 CTLA4 HLA-B TBX4 MEFV KLRC4 NOP10 HLA-DPB1 PIK3R1 ALDH3A2 GNA11 NTRK1 RAG2 MTTP ALOX12B PLEC CD79A BIRC3 RAD21 NCF4 TCF4 HP_EPISCLERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISCLERITIS NLRP3 SLC29A3 PSMB8 DNASE1L3 MBTPS2 HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES FGFR1 GRIA3 JAG1 PEX11B FLNA FBXO31 PPARG PEX12 SUZ12 ABCC9 SHANK3 TTC37 ZFPM2 KRAS GATA6 ZIC1 PEX19 ASXL1 IDS UBE2A PEX6 PIK3R1 BRAF GJA5 LIG4 PEX2 RBM10 EDA FGFR2 CAV1 LAS1L SOX11 GDF1 FGFR3 NKX2-6 NEU1 ZSWIM6 MAP2K2 HBA2 PEX10 SEC23A RAB23 KCNJ8 ESCO2 MAP2K1 TAF1 BSCL2 HBA1 PEX16 KIF11 AGPAT2 RPS6KA3 FLT4 GATA4 ERCC4 SLC25A24 NSUN2 RBMX PIK3CD CHD8 PEX5 PEX26 PHF8 PEX13 PHF6 GATA5 FHL1 GHR MAP3K7 MYOD1 MASP1 HDAC8 OPHN1 PTH1R FOS TWIST1 PRMT7 TBX1 ANTXR1 CAVIN1 NKX2-5 FREM1 PEX1 PITX2 PEX3 TCF12 PDGFRB SP7 KNSTRN KLHL7 ARX TRAPPC9 CITED2 PEX14 SPOP HP_PALPEBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPEBRAL_EDEMA KIF1A SHANK3 SOX18 PIK3CD ADAMTS2 CDH11 SLC29A3 CAMTA1 DNMT3B SNX14 ACTG1 AIP PEX5 KCTD1 DUX4 SMCHD1 GNPTAB ANTXR1 GPR101 GSN COL1A1 ABCC9 KAT6A PEX2 RIN2 ACTB COL5A2 FRMD4A KPTN COL5A1 FOXG1 MED12L KNSTRN FRG1 ZNHIT3 SLC35C1 PSPH HP_FEMORAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_HERNIA TBX1 COL1A1 COL1A2 FZD2 ATP7A SLC26A2 PTDSS1 DVL3 EHMT1 SMAD4 DVL1 SLC2A10 WNT5A TRIP11 FANCB DIS3L2 ADAMTS2 HP_ABNORMAL_LOCALIZATION_OF_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY KDM6A CLIP2 SALL4 PUF60 SOX4 GLI3 FANCE MAP3K7 ARID2 SLX4 BRCA1 FGFR1 FANCI EXTL3 TSR2 APC SPINK5 FLII ARID1B MLXIPL RAI1 LEMD3 FANCB PIK3R2 GTF2IRD1 GTF2I FANCM ADA2 THOC6 NRIP1 POR ESCO2 WT1 RPL35 RPL15 RFC2 PALB2 C8orf37 FANCC RPL31 RPS26 MYCN SEMA3E HRAS DYRK1A TBL2 JAM3 DEAF1 MAFB DSE XRCC2 SPECC1L SMARCE1 GATA1 DSTYK CCNQ RPL26 CHD7 LRP4 SON RBBP8 SMARCA4 KMT2D RAD51C SSR4 DYNC2LI1 MCTP2 RAB18 RAB3GAP2 LIMK1 CCBE1 SALL1 IQSEC2 AFF4 MNX1 RARB SMS SMOC1 DNA2 DHCR7 ZIC3 CHST14 RPS15A RAD51 TBX22 FUZ CCND2 RPL27 VANGL1 TBC1D20 ADAMTS3 NIPBL FANCA DPF2 RBM8A DDX59 NRAS FANCD2 HMGA2 RPS17 RPL11 RPS19 BRIP1 PORCN RECQL4 CD96 DDX6 SOX11 RBM10 COLEC10 ZEB2 SC5D SMARCD1 WAC RPL35A RPS10 COLEC11 RPS7 ERCC4 BRAF PTPN11 SRY FANCF KRAS RAB3GAP1 AKT3 XRCC4 SNRPB RPS24 BRCA2 DACT1 HOXD13 FAT4 RPS28 HNF1B CHN1 TCTN3 ELN RPS29 ARID1A RPL18 GREB1L BAZ1B FGFR2 STAG1 PBX1 FANCL STRA6 PAX2 UBE2T RFWD3 SMARCC2 RPL5 FANCG RTTN HNRNPU RAF1 MAD2L2 CWC27 RPS27 SMARCB1 DKC1 HNF4A HP_COGNITIVE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGNITIVE_IMPAIRMENT DSG4 TRAK1 VCP WFS1 MCOLN1 CTNS SNCB TMEM240 LARS2 RMRP COMT MT-CO3 PMS2 ATXN7 SLC1A2 KRAS ATP7B A2M CEP152 XPC DDB2 APP MMACHC ERCC3 HNF1A EPM2A ATP13A2 MAPT HNF4A PEX6 TOMM40 TREM2 STAT4 GABRG2 DNMT1 MAGEL2 NPC2 ALG2 MT-TF ARSA ALOX12B GRN IL23R ATXN2 ABCC8 GBA2 SPART CENPJ HTRA1 TSC2 GSN CTSD CHI3L1 MT-TQ ADH1C MSH6 VPS13A EP300 HEPACAM NFIA MYORG CYP4F22 EPCAM CUX2 PSEN2 MLH3 MT-ND5 GABRA2 SEC61A1 PEX5 PEX26 MAOA ACTB GALC CLCF1 CFH MTO1 SCARB2 GRID2 CSF1R COL18A1 PSEN1 MT-ND6 LAMP2 FLNA PMPCA UBAC2 SCN1A CYP2U1 SDHA AKT1 TREX1 POLG2 GLB1 ERCC8 NBN VAMP1 PRNP GRIN2A MT-TL1 FOXG1 CLN6 GJB6 NDUFS2 POLG PLK4 CACNA1A ATP1A3 GABRD C12orf65 NOTCH3 SLC44A1 PANK2 TP53 WDR73 IRAK1 GBE1 MT-CO1 CENPE GBA C4A NDP ERF MT-ATP6 YWHAG HLA-DRB1 CHRNG TARDBP ABCA7 HLA-DQB1 EPRS1 CISD2 NHLRC1 MT-CYB TYROBP MEOX1 NR4A2 BBS5 TTC37 POMT1 CFHR1 KCNB1 FA2H TNFSF4 CCR1 C9orf72 NRAS VPS13C KATNB1 AUH AARS1 ATN1 GRIN2D BSCL2 GLA GCH1 ZNF365 PRKAR1B DNAJC6 ABCD1 COA3 ATP1A2 FBN1 PEX10 PPP2R2B STARD7 DCAF17 SYNJ1 SCN1B ABCA5 DCX LZTFL1 LTBP4 GNAS NUS1 ERAP1 DCTN1 NF2 ROGDI ATXN3 PLA2G6 NDUFB8 KCNJ11 SERPINI1 HNRNPA2B1 HSD17B4 CEP120 SDHB MEFV FGF14 HLA-B PRKRA CLN8 MT-TW GABRA5 PRKN ATP6V0A2 ERCC4 BMPR1A APOE SDR9C7 RRM2B SCN9A PEX11B DNM1L SURF1 ECM1 VPS37A NTRK2 ERCC6 LRRK2 FTL UQCRC2 SUMF1 GCDH VPS35 SIM1 CP ROBO3 SEC23B GABRB2 GLUD2 SMC1A FUS JPH3 PLP1 DLAT FAN1 ALG13 SLC5A7 FAS SZT2 NKX6-2 TSC1 TMEM106B IKBKG DAOA STXBP1 TPRKB KLLN DARS2 MTHFR SNCA RBM28 AFG3L2 GABRB3 GMPPB KIF5A MT-TS2 CCDC78 PRICKLE1 TWNK DRD3 PRKCG TYMP C19orf12 POMK ADA2 PINK1 STX1B TK2 SPG21 PDGFB HCN1 CDK19 SDHD ADAMTSL4 ITPR1 DMD NAGS AP5Z1 KCNT1 COASY MBTPS2 UGT1A1 EIF4G1 NOTCH2NLC GDAP2 SCN2A KRT83 RIN2 IL12A-AS1 PDGFRB NAGLU TRAIP CFHR3 ITGA7 MFN2 SMO NAGA UBA1 PODXL EIF2B4 PRDM8 HFE DSTYK OPA3 DZIP1L STUB1 SPG11 ERCC5 PLAA SLC6A1 HTRA2 GALK1 ARL6IP6 XPR1 SPAST MATR3 PEX16 KCND3 MT-TH MLH1 SDHC MT-TK KRT86 AARS2 LYST DMPK PIK3CA SLC13A5 ERCC2 TBP UCP2 ATXN10 RNF216 TBK1 PRKAR1A AP2M1 TINF2 ATM CYFIP2 IBA57 PSAP APTX LMNB1 HTT ZFYVE26 METTL23 BRAF KLRC4 EEF1A2 MTOR TIMM8A LAMA2 OCRL MPO NPC1 ITM2B SEMA4A SLC18A2 PARK7 MT-TE IDS SLC25A4 DHDDS ARV1 COL4A1 SLC2A1 SQSTM1 SLC25A15 UCHL1 SMARCE1 MOG TTPA KMT2A GDF6 BBS12 ALDH18A1 MT-ND1 HIBCH LARGE1 PDCD10 NECAP1 DGUOK SPG7 RBBP8 PEX2 BDNF TRPM7 SCN8A USF3 DNAJC3 UBQLN2 SLC25A13 MEN1 ALG9 COQ2 SLC20A2 SMARCB1 KCNC1 IRF6 SLC7A7 SRCAP CHD2 CHMP2B QDPR PCDH19 MT-TC MAG PHOX2B PEX13 EIF2B2 SDHAF1 CREBBP CTSK EIF2B3 ADD3 P2RY11 WDR4 HCRT SCN3A IL12A SIGMAR1 GJB2 SPR CTSH MYO1H KCNA2 ACSF3 HSD17B10 DNAJC5 RNASEH1 PEX3 CAMTA1 L1CAM BBIP1 MTFMT PEX14 GJC2 ALOXE3 POMT2 TRAF7 PLAU ASAH1 GPC4 SLC2A3 ALS2 TTC8 APOL2 JAM2 NDUFAF3 TLR3 PTS TTR AASS FKTN TP53RK SUFU CHCHD10 FMR1 HNRNPA1 BBS10 MT-RNR1 GNPTAB IDUA MT-TP ATP6V1A MAPK10 PNKP CFAP43 NDUFA6 PPT1 CLN5 CACNA1G CSTB ADGRV1 UBA5 OSGEP XPA POMGNT1 CNKSR2 GALT B3GALNT2 NOS3 GABRA1 MT-ND4 ATP6V1E1 SNCAIP ACTL6B CLMP PDE11A DNM1 TSFM GNE KMT2B MFSD8 EIF2B1 SULT2B1 SPP1 CTSF TIMMDC1 ALMS1 FGD1 ATRIP CTC1 TUBB4A DNAJC13 GDNF REEP2 TGM1 ATR RAB27A SGPL1 NUP133 HEXB SYN2 IL10 PKHD1 GM2A TBCK CYP27A1 PLEKHG4 SLC30A9 BAP1 IFT140 UBAP1 CLTC RTN4R FKRP NIPAL4 ATG5 FBXO7 SYNGAP1 GTPBP3 MT-TV TUBB2B CERS1 ATXN1 ALG12 HTR2A MYH3 MT-CO2 PTEN SPTBN2 COL3A1 MSH2 CRLF1 PRDX1 GDF5 KCTD7 CHRM3 CTDP1 LAMA1 COX6B1 TERT RBM12 UBTF PEX12 CST3 KRIT1 PTPN22 SOST GDF3 NPHP1 FGF12 CYP7B1 TGFBR2 MECP2 MPDU1 SMC3 PEX19 PDE10A NF1 PCNT DALRD3 LIPN DCC PPP3CA EIF2B5 RAB39B PAH SDCCAG8 MARS2 AP3B2 TTC19 EDN3 AIFM1 CLN3 CUBN KRT81 FRRS1L APOL4 TLR4 XRCC4 PMS1 TUBA4A ATXN8OS DOLK PNPLA6 LAGE3 WWOX CACNA1B OPA1 MYD88 HEXA WDR45 GIGYF2 HMBS RPS20 SNORD118 HGSNAT PARS2 CCM2 SORL1 PEX1 PORCN ABCA12 NUP107 FGFR3 CNTNAP2 SCO2 HP_NEOPLASM_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_HEART TSC1 MYH11 MYLK IFNG SUFU SOX6 PRKAR1A TSC2 PTCH1 PTCH2 MYH8 ACTG2 LMOD1 HP_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_STENOSIS STAT1 CLIP2 JAK2 MYH11 SMPD1 CYP7A1 MLX MAT2A PCSK9 SDHB TMEM127 ERCC6 APOB TGFBR2 PRKG1 ABCG5 MPL ELN APOA2 VHL THPO LIPC LMNA ACTA2 ENPP1 IDS MLXIPL ABCC6 PCNT NF1 LDLRAP1 ABCG8 SMAD4 JAG1 CEP19 FIG4 GTF2IRD1 GTF2I ZNF687 YY1AP1 SMAD3 ARL6IP6 FOXE3 RFC2 SERPIND1 LDLR GDNF IL12B TGFB3 ABCA1 FBN1 MYLK ESR1 TBL2 BRCC3 BEST1 ADA2 XYLT1 AEBP1 RET ERCC8 PPARG ATP7A POU3F4 EPHX2 XYLT2 SLC2A10 KIF1B AGXT PPP1R17 VAC14 BAZ1B LIMK1 HLA-B MFAP5 TGFBR1 LOX APOE GHR NOTCH3 TGFB2 KCNJ5 COL3A1 MAX SDHD HP_EXSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXSTROPHY ISL1 PAH UPB1 CDH11 KRAS TP63 HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM DICER1 KEAP1 COL4A5 SFTPC MUC5B TERT SFTPA2 COL4A6 HP_ASYMMETRIC_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_GROWTH KRAS MIR140 HMGA2 PIK3CA PTEN KCNQ1OT1 RASA1 H19 IGF2 DACT1 KAT6A SETD5 NRAS COL2A1 GNAQ MNX1 PTHLH HOXD13 USP9X MAPK1 RNF125 EBP AKT2 HRAS SKI AGGF1 ACTB GABRD SALL1 PLAG1 PSMD12 KCNQ1 IKBKG ARL6IP6 CDKN1C SATB2 DMP1 KCNAB2 PRDM16 PORCN ENPP1 AKT1 MAPRE2 TRPV4 TUBB EFNB1 BPTF RERE HP_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIATROPHY PSMD12 MIR140 EBP EFNB1 BPTF HP_LOWER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_ASYMMETRY ACTB H19 GABRD PIK3CA KRAS SALL1 PTEN RASA1 IGF2 DACT1 KAT6A SETD5 COL2A1 SATB2 DMP1 KCNAB2 PRDM16 GNAQ PORCN MNX1 ENPP1 USP9X MAPK1 MAPRE2 SKI TRPV4 TUBB RERE AGGF1 AKT1 HP_UPPER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_ASYMMETRY ACTB MIR140 H19 PORCN PTHLH HOXD13 MAPRE2 PTEN TUBB IGF2 AGGF1 AKT1 HP_SPINAL_CORD_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_LESION SETD2 GLRX5 RTN2 RUNX2 NOTCH3 FBLN1 TBX6 KDM1A ACY1 CTNNB1 CREBBP KRIT1 CCNQ SH2B1 CCM2 ABCA1 DKK1 HMGA2 FOXF1 EP300 NFIA SLC33A1 NOTCH2 RAI1 NRAS WASHC5 PDCD10 LEMD3 DDR2 HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM APC CDKN1A TMEM127 PRKAR1A SDHB SMARCE1 PMS2 AIP NRAS CDKN1B KRAS FOXI1 FAS EPAS1 VHL SEC23B CDC73 DICER1 SLC26A4 PIK3CA AKT1 GREM1 CTNNB1 FAN1 SDHAF2 FH PTEN USF3 MEN1 KLLN SDHC PRKCD MSH6 RET TP53 SDHD BAP1 MAFA GCM2 GPR101 SMARCB1 EPCAM MLH3 FOXE1 USP8 KCNE3 CASP10 PDGFB CLCNKB NRTN HABP2 DAXX BICC1 KIF1B IDH2 SDHA GANAB RASGRP1 SLC25A11 DLST HRAS NF1 ATRX EDN3 CDKN1C MSH3 KCNJ10 MDM2 MAX PKD2 SCN4A MSH2 FASLG SMO WRN BMPR1A TRAF7 TERT CDKN2A TGFBR2 GCGR CDKN2C DNMT3A LMNA TSC2 MINPP1 JAG1 SEMA3D CASR CYP11B1 IGF2 CDKN2B GDNF CYP11B2 SEMA3C SUFU TG MLH1 KEAP1 CCND1 PKD1 DMPK MDH2 NF2 PMS1 CDH23 EDNRB TSC1 CHEK2 IDH1 FLCN ECE1 SLC12A3 CACNA1S RPS20 KCNQ1 KCNQ1OT1 BRAF SRGAP1 NKX2-1 GNAS SEMA4A HP_ABNORMALLY_OSSIFIED_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_OSSIFIED_VERTEBRAE ALPL WDR35 RNU4ATAC COL2A1 BMPER WNT3 IFT80 FLNB HSPG2 RMRP LBR SLC26A2 RSPO2 DYNC2H1 SOX9 DYNC2I2 TRIP11 VPS35L NKX3-2 INPPL1 DYNC2I1 LFNG HP_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARCINOID_TUMOR CDKN1B MEN1 SDHD APC CDKN2C DAXX CDKN1A TSC1 CDKN2B LMNA TSC2 ATRX HP_CARDIAC_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_DIVERTICULUM KRAS MLH3 MSH6 FAN1 PIK3CA RPS20 SEMA4A BMPR1A MSH2 MLH1 PMS1 TGFBR2 EPCAM PMS2 HP_BILIARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_NEOPLASM RNF43 PSAP STK11 MST1 PTPN3 DZIP1L HFE TCF4 GPR35 PKHD1 ARSA HP_NEOPLASM_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GALLBLADDER PSAP MST1 TCF4 GPR35 ARSA HP_AMAUROSIS_FUGAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMAUROSIS_FUGAX MLH3 HLA-B MLX ADA2 FAN1 PIK3CA TP53 PTPN22 RPS20 ADRA2B CTNND2 SCN1A CACNA1A PMS1 TGFBR2 PMS2 SH2B3 YEATS2 KRAS TET2 PRRT2 MSH6 IL12B SEMA4A MARCHF6 BMPR1A MSH2 MLH1 MPL JAK2 ATP1A2 EPCAM SAMD12 CNTN2 CALR HP_LIPOATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOATROPHY RNASEH2B ADAR TXNRD2 PLIN1 DMD SGCD NEBL MYH6 TCAP PSEN2 LMNA ABCC9 RNASEH2A DES GATAD1 SCN5A LDB3 FUCA1 FKTN PPARG DOLK SAMHD1 LMNB2 BAG3 ACTN2 COL3A1 HAND2 POLR3A FBN1 FLNA MYBPC3 TNNI3 TAZ CRYAB RAF1 TTN TAF1A MYPN TNNT2 FHL2 ACTB PDGFRB ACTC1 VCL TPM1 TMPO TREX1 PIK3R1 NEXN SDHA RNASEH2C PIK3CA CSRP3 RBM28 SLC25A24 CLMP PRDM16 CAP2 PSEN1 DSG2 MYH7 ANKRD1 RBM20 IFIH1 BANF1 TNNC1 PLN LAMA4 PPCS WRN HP_MUCOSAL_TELANGIECTASIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUCOSAL_TELANGIECTASIAE SDHB ERCC5 CTSA ACVRL1 LBR ENG NAGA ATM ERCC3 GLA ERCC2 CAV1 CCR6 RNF168 USF3 KIAA0319L SETX SMAD4 PCNA PTEN IRF5 KLLN SDHD ERCC4 XPC DDB2 GNAQ SLC52A2 CCN2 AKT1 MASP1 SDHC SEC23B HLA-DRB1 GDF2 PIK3CA XPA PEX6 HP_BARRETT_ESOPHAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARRETT_ESOPHAGUS FH CTHRC1 RAD21 MSR1 ASCC1 HP_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDITIS MEFV HLA-B GATA6 IL12A-AS1 ERAP1 PRKAR1A TLR4 KLRC4 CRELD1 IL23R GATA4 GBA IL10 UBAC2 C4A FAS IL12A CCR1 STAT4 NR2F2 HP_TELANGIECTASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA_OF_THE_SKIN MST1 SOX18 TINF2 NPM1 PCNA LBR CYLD ENG TMC6 SLC37A4 ERCC3 FERMT1 ERCC2 CAV1 CCR6 TMC8 KIAA0319L SMAD4 TERC ELMO2 IRF5 ACVRL1 SDHD CDH23 POLE ATM DAXX XPC DDB2 COL3A1 RTEL1 SLC2A10 VPS53 CCN2 WNT10A NAGA NF1 ARX XPA TERT HLA-DRB1 USB1 SLC29A3 ERCC5 XRCC4 USP8 LMNA NOP10 GLA ANTXR2 ENPP1 CIB1 ATRX IKBKG ARL6IP6 ABCC6 CTC1 PIK3CA ERCC4 WRAP53 PARN PORCN NHP2 IL7 LIG4 TCF4 GPR35 GDF2 DKC1 BLM GNPTAB WRN HP_ABNORMALITY_OF_THE_PREPUTIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PREPUTIUM FANCB CENPT SETD2 ERMARD FANCL FANCI APC2 FERMT1 FANCE FANCM XRCC2 UBE2T RFWD3 PQBP1 BRCA1 BRCA2 FANCG CTCF FANCA DSP NSD1 FANCD2 PALB2 MAD2L2 FANCC RAD51C ERCC4 SLX4 RAD51 DKC1 BRIP1 FANCF HP_UROGENITAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_FISTULA JAK3 WDR35 KDM6A SALL4 OCRL UBR1 HES7 IL10RB DACT1 ITGA8 FGF20 SALL1 IFT80 RECQL4 POLR1C SPINT2 TGFB1 MNX1 PIGN CCNQ POLR1D POR DYNC2H1 RET LFNG RIPPLY2 LONP1 CDK8 KMT2D DYNC2I2 MESP2 GREB1L FREM1 KIF7 MKKS DYNC2I1 DLL3 TCTN3 TCOF1 HP_RECTAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_FISTULA JAK3 SALL4 UBR1 IL10RB DACT1 LONP1 CDK8 SALL1 RECQL4 POLR1C SPINT2 FREM1 KIF7 MKKS MNX1 PIGN CCNQ TCTN3 TCOF1 POLR1D HP_PERITONEAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONEAL_ABSCESS SMAD4 TP53 TTC7A PALB2 PALLD BRCA2 BRCA1 CDKN2A KRAS HP_CALCIFICATION_OF_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_CARTILAGE SLC26A2 MGP TNFRSF11B ENPP1 ANKH HGD ZBTB20 PEX5 ABCC6 DDR2 PEX2 HP_PULMONARY_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EDEMA CFH MYPN CFI MYBPC3 TNNT2 CD46 KIF20A ABCA3 MT-CYB HELLPAR FLNC FSHR TNNI3 PRKAG2 EPHB4 SFTPC SFTPB HP_ECLAMPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLAMPSIA CFH LMNA HELLPAR CFI NOS3 CD46 CORIN STOX1 PPARG HP_TOXEMIA_OF_PREGNANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOXEMIA_OF_PREGNANCY ABCB4 CFH ATP8B1 CYP11B1 CFI CD46 ADGRG6 FDXR LMNA DHPS HBA1 EP300 NR1H4 ABCB11 LBR CYP11B2 PPARG F5 SLC25A20 CORIN STOX1 HELLPAR NR3C2 NOS3 HBA2 HP_NEOPLASM_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARYNX RSPO1 NLRP1 MLH1 MSH2 TP53 MSH6 MDM2 CAT CHEK2 CDKN2A HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM DICER1 TSC1 RSPO1 KEAP1 WT1 MLH1 HPGD SLCO2A1 C11orf95 RELA TP53 CDKN2A NLRP1 SFTPA2 NSD1 DIS3L2 MSH2 MUC5B TSC2 PERP COL4A5 H19 CHEK2 REST TRPV3 TERT STAT6 TRIP13 IFNG TRIM28 BAP1 SETD2 MSH6 NDUFAF6 LMNA APC2 CAT STK11 POU6F2 PDGFRB RB1 PTEN NAB2 GPC3 MBTPS2 MST1R EWSR1 MDM2 BRCA2 NOTCH3 SFTPC AKT1 COL4A6 WRN HP_DYSMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMENORRHEA IGF2 CYP17A1 CDKN1C HMGA2 AIP LMNA PLAG1 CYB5A PHKG2 ANTXR1 GPR101 PHKA2 PPARG HP_METRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METRORRHAGIA BCOR CDH23 PRKAR1A NPM1 USP8 FIP1L1 STAT3 NUMA1 ZBTB16 TBL1XR1 PML RARA F5 IRF2BP2 NABP1 FLI1 STAT5B HP_MULTIPLE_GLOMERULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GLOMERULAR_CYSTS MT-ND4 MT-ND6 MT-TW MT-TL1 MT-ND3 MT-ATP6 MT-ND1 MT-TV HNF1B MT-TK MYOCD MT-ND2 NPHP3 MT-ND5 UMOD HP_ODONTOGENIC_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ODONTOGENIC_NEOPLASM PTCH1 HSPG2 APC PTCH2 OCRL SUFU OFD1 FGF3 HP_DEATH_IN_EARLY_ADULTHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_EARLY_ADULTHOOD BAZ1B MLH3 CLIP2 LIMK1 ELN TBL2 RPS6KA3 BCS1L FAN1 PIK3CA TYMP GTF2IRD1 ACTB GTF2I PMS1 TGFBR2 PMS2 KRAS SLC9A6 RFC2 MSH6 POLG DSP APP MSH2 MLH1 SCN4A EPCAM CST3 HP_MYOSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOSITIS RNASEH2B ADAR MEFV PSTPIP1 HLA-B ERAP1 TLR4 KLRC4 IL23R PSMB9 PSMB4 IL10 FAS IL12A FOXP3 RNASEH2A TREX1 SPP1 LAMA2 CAPN3 STAT4 STING1 SAMHD1 RNASEH2C IL12A-AS1 IRAK1 UBAC2 C4A TNFRSF1A CCR1 HNRNPA2B1 IFIH1 HP_OVARIAN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_NEOPLASM RAD51D MLH3 RAD51C KEAP1 WT1 TP53 DMPK PIK3CA PALB2 SOX9 BRCA1 KRAS C11orf95 STAG3 NR5A1 RNF43 PTEN RELA BRIP1 RAD51 CDKN2A FLI1 CHEK2 PMS1 TGFBR2 PMS2 GATA4 SUFU FGFR2 AKT1 WNT10A CDH1 IDH2 IDH1 MAP3K1 BRCA2 FAN1 DICER1 LMNA PRKN ZFPM2 SRY CTNNB1 DHX37 BARD1 MSH6 EWSR1 PALLD MDM2 MSH3 NBN PTCH1 SMAD4 MSH2 MLH1 PTCH2 OPCML NR0B1 MRE11 VAMP7 DMRT3 EPCAM WWOX RAD50 WRN HP_LEYDIG_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEYDIG_CELL_NEOPLASIA MRAP MC2R TXNRD2 STAR NNT HP_GERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERMINOMA MAP3K1 KEAP1 DICER1 PRKN AKT1 PIK3CA STS FGFR2 OPCML CTNNB1 IGF2 CDH1 HP_DYSGERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGERMINOMA MAP3K1 FGFR2 OPCML CTNNB1 CDH1 PRKN AKT1 PIK3CA HP_ENLARGED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_THORAX TRAPPC2 PRKACB PCGF2 BCOR A2ML1 DYM TNFRSF11B MAP2K1 KDELR2 BMPER SOS1 RAF1 LMNA PRKACA BRAF RRAS2 OBSL1 NRAS KAT6A RASA2 CHST3 EIF2AK3 ACAN GPKOW LRP5 PTPN11 TRPV4 ACP5 TRIP11 WNT7A MAPK1 VPS33A RRAS CILK1 FBN1 HRAS GUSB GATA4 COL2A1 ZMPSTE24 RIT1 P3H1 CCDC8 MYH3 POP1 LZTR1 INTU NAA10 CUL7 LBR MRAS KRAS FUCA1 KIF22 CBL XYLT2 RAB33B WNT4 SOS2 HP_CHRONIC_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATIC_FAILURE EIF2AK3 RPGRIP1L MST1 HADHA TMEM67 HADHB CC2D2A SP110 ALDOB AKR1D1 INPP5E HFE TCF4 GPR35 HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS ABL1 KDM1A WT1 UBR1 CYP11A1 CDH11 HES7 EVC TBX1 ATRX WNT5A BRCA1 LMNA BCOR TSR2 RTEL1 CCDC22 PSPH PEX6 ARCN1 KANSL1 LIG4 CPLX1 SLC25A10 PEX2 HDAC8 SEC24C GLI3 RAC1 KRAS CDKN1C COX7B KIFBP NSD2 DHCR7 SETBP1 NDUFB11 FANCM ADA2 HBA2 MAMLD1 THOC6 KIAA0586 TBX22 KIF7 EP300 GLI1 PDE4D DMRT3 FRAS1 B3GLCT FGF10 SRCAP TP63 GPC3 PEX5 PEX26 WNT4 XRCC2 GP1BB PEX13 SMC1A SETD5 NELFA GATA4 CDC6 RBBP8 MNX1 FLNA CREBBP CARS1 VAC14 MAP3K1 C2CD3 PTDSS1 WASHC5 SALL1 CCDC8 PTPN11 CDT1 UBE2A CTC1 SMS SPECC1L PITX2 PEX3 NOTCH2 TMEM70 DCHS1 FZD2 RPS15A RAD51 SMC3 DKC1 PEX14 CHRNG HCCS FGFR2 PCNT TERC SIN3A SIX6 TTC37 LETM1 TMEM94 FANCD2 COMT RLIM MKKS NR5A1 POLR3A WNT7A MESP2 RPL11 TTC8 CDC45 RPS19 FDFT1 GPC4 MED25 SSR4 RPL10 SYNGAP1 ERMARD COLEC10 ZFPM2 ZEB2 PQBP1 ATP6AP2 PEX10 DHX37 RPS10 COLEC11 PSMD12 KCNAB2 PAX6 POLE RIPPLY2 HBA1 DYNC2LI1 ERCC4 NR0B1 BRAF EFNB1 VAMP7 SRY FGFR1 EVC2 DLL3 NSUN2 NPM1 SOX9 CDC42 RPS24 OBSL1 ALG12 KLHL40 NSD1 RPS28 FANCC KMT2D RPL18 BMP4 PRKAR1A MTOR SOX2 GABRD CYP17A1 FREM2 NEB NOP10 COG1 CUL7 IGF2 UBE2T EPG5 RPL5 RAF1 MECP2 MAD2L2 CLMP RAD21 PPP1R12A RERE RSPO1 MTM1 PEX11B HOXA13 HNF1B KDM6A PIGN UFD1 B9D2 ARID1B MAPRE2 SLX4 MID1 CYB5A KDM3B TERT FANCB PIEZO2 FOXC1 AR ACTA1 HYLS1 RPL35A NAA10 RREB1 SMCHD1 ZMPSTE24 POR ESCO2 RPL35 RPL15 PALB2 RPL31 CYP21A2 HIRA PEX1 TUBB ORC4 DYRK1A ATR ORC6 KDM5B HSD3B2 FANCI ZMIZ1 MED12 GATA1 RPL26 BDNF MED12L RAD51C DVL3 TMEM63A LMOD3 FAT4 SKI MCTP2 EHMT1 SETD2 FANCE SMAD4 DVL1 FGFR3 COL3A1 WRAP53 GRIP1 NHP2 JMJD1C CDCA7 KLHL41 STAR GMNN RPL27 TAPT1 NIPBL PEX12 LSS MAB21L2 UBA1 ATPAF2 DNAJC19 PEX19 RPS17 CUL4B OGT BRIP1 CILK1 USB1 SAMD9 MYMK BUB1B SUFU FIG4 APC2 SRD5A2 ARL6IP6 NKX2-1 PRDM16 FBXL4 RPS7 KMT2A PARN WDR35 TFAP2A PNPLA6 PEX16 ADAT3 FANCF TINF2 HMGA2 ARX HUWE1 CTBP1 ARVCF BRCA2 DACT1 HOXD13 FGFRL1 CHRNA3 RPS26 ISL1 AFF4 RPS29 CSPP1 PUF60 FANCL PLAG1 RFWD3 FANCG RTTN FANCA ORC1 LFNG RPS27 GATAD2B HNF4A WWOX HP_NEOPLASM_OF_THE_ADRENAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_GLAND SDHD CDKN1B APC CDKN1A MAX KCNE3 DNMT3A PRKAR1A MDH2 SDHB MEN1 TP53 CDKN2A RET CDKN2C EPAS1 VHL SDHC CHEK2 IDH2 DLST IDH1 TMEM127 CYP11B1 SDHA IGF2 CDKN2B CACNA1S SLC25A11 SDHAF2 FH KCNQ1 KCNQ1OT1 NF1 PTEN CYP11B2 CDKN1C MDM2 SCN4A KIF1B HP_ESOPHAGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGITIS TGFBR1 IARS1 SMAD3 TCF4 RPL11 PHGDH ATP7A TGFB2 MEN1 TGFB1 GLRA1 PGM3 TRAPPC11 LMX1B GPHN CDKN1B CARMIL2 GLRB CARD8 STXBP1 PSPH SLC6A5 SLC2A10 TGFBR2 ATAD1 FERMT1 TGFB3 ADAMTS2 HP_NEUROENDOCRINE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROENDOCRINE_NEOPLASM SDHD CCND1 CDKN1B CDKN1A MAX SDHB TMEM127 DNMT3A SDHAF2 PRKAR1A MDH2 MEN1 SLC25A11 RET GCGR CDKN2C DAXX EPAS1 VHL TSC1 LMNA TSC2 SDHC NF1 KIF1B DLST APC SDHA CDKN2B FH ATRX GDNF MAFA HP_NEOPLASM_OF_THE_ADRENAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX APC CYP11B1 CDKN1B IGF2 CDKN1A KCNE3 CDKN2B CACNA1S KCNQ1 PRKAR1A KCNQ1OT1 MEN1 TP53 PTEN CDKN2A CYP11B2 CDKN1C CDKN2C MDM2 SCN4A CHEK2 IDH2 IDH1 HP_ABNORMALITY_OF_NAIL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NAIL_COLOR GJA1 PEX6 PLCD1 ABCA12 PEX1 STK11 TRPS1 KIF11 DSP KANK2 GJB6 CAST RNU4ATAC GJB2 FOXC2 HP_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROIDITIS CHD7 AKT1 STAT1 MST1 ITCH LIG4 NLRP1 SLC12A3 SEC23B PLCG2 RASGRP1 TG IL7R FOXP3 RAG2 FOXD3 PTEN CASP10 TBX2 FAS IL18BP CLCNKB POLG PRKCD LRBA IL2RG IL2RA ZFAT RAG1 DCLRE1C C1S RMRP ADA2 TTC7A CTLA4 TCF4 ADA GPR35 STAT5B FASLG PIK3CA HP_GRAVES_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAVES_DISEASE CACNA1S GABRA3 KCNJ18 CLCNKB SLC12A3 HP_NEOPLASM_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TONGUE C2CD3 KIF7 KAT6B TRAF7 TERT TMEM107 AKT1 PLCB4 RASGRP1 WDPCP FAM149B1 KIAA0753 NF2 SMARCE1 CASP10 NEK1 EDN1 INTU GNAI3 TCTN3 PDGFB FAS CPLANE1 TMEM216 PRKCD TMEM231 BAP1 DYNC2H1 SUFU PDE6D PIK3CA OFD1 SMARCB1 MDM4 FASLG SMO HP_NEOPLASM_OF_THE_ORAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ORAL_CAVITY TRAF7 TERT APC PLCB4 KIAA0753 C2CD3 NF2 HSPG2 SMARCE1 CASP10 NEK1 PDGFB FAS TMEM216 DYNC2H1 SUFU OFD1 FGF3 KIF7 KAT6B OCRL TMEM107 AKT1 MSH6 RASGRP1 LMNA MYC WDPCP FAM149B1 MLH1 MSH2 EDN1 INTU GNAI3 TCTN3 CPLANE1 PRKCD TMEM231 BAP1 PLAG1 PDE6D PIK3CA PTCH1 PTCH2 SMARCB1 MDM4 FASLG SMO WRN HP_VAGINAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_NEOPLASM TRIP13 CEP57 STAT6 NAB2 FH COL4A5 BUB3 BUB1B BUB1 COL4A6 HP_TYPE_I_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_DIABETES_MELLITUS STAT1 GCK MST1 ITCH MMP14 MT-ND5 FOXP3 CLCNKB INS NEUROG3 MMP2 MT-ND6 CNOT1 MT-ND1 ADA2 HNF1A STOX1 SLC16A2 MT-TF STUB1 STAT3 SLC29A3 KCNJ11 EDA2R TKT PSTPIP1 EIF2AK3 SLC12A3 MT-TW AIRE MT-CO3 CAT MT-TL1 CORIN MT-TQ ABCC8 MT-TH DNAJC3 IL18BP MT-ND4 KCTD1 MT-CO1 LRBA IL2RA EDA MT-TE MT-TS2 TTC7A FLT1 TCF4 GPR35 MT-CO2 HP_CELLULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULITIS LRRC8A PIK3CD SRP54 GJC2 ELANE SLC35C1 NCF2 NCF1 PSTPIP1 SLC35A1 GFI1 VEGFC CYBA IGHM CXCR4 BTK IL6R AEBP1 LMNA PIEZO1 CYBB COL1A1 SHANK3 PIK3R1 CD79B TCF3 RAC2 FLT4 IL2RA PHEX TNFRSF1A STAT3 CD79A KIF11 GATA2 IGLL1 PLCG2 TCIRG1 AGGF1 BLNK FOXC2 HP_ABNORMALITY_OF_THE_CEREBRAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_VASCULATURE ZAP70 RNASEH2B STAT1 CLIP2 JAK2 PCSK9 CD46 MT-TS2 SMARCE1 SMAD4 PDGFRB MT-CO3 PRKG1 FARSB ABCG5 HSD11B2 GNAQ SAMHD1 VHL APP MMACHC ACTC1 MT-ND1 SLC19A2 MLXIPL ABCC6 KANSL1 CYP11B1 PDCD10 B3GALT6 MT-TF CFI TP53 CYP26C1 GTF2I SPARC HTRA1 CBS PTEN SMAD3 NDE1 GNAI3 ENG NOS3 PKD1 MECP2 MT-CO1 SLC20A2 SMARCB1 F5 FBN1 MYLK ASS1 TBL2 BRCC3 MT-ND5 PAFAH1B1 MT-TC MYH11 COL4A1 AIRE F10 KCNJ5 COL3A1 MT-ND6 GGCX BICC1 ACTA2 XYLT2 ALX4 TREX1 KIF1B LIMK1 FGA MFAP5 CNTNAP2 AKT1 GATA4 SLC25A11 KIF20A CCDC8 MT-TL1 FGG ENPP1 NR2F2 GAA PRKAG2 NOTCH3 SMARCAL1 TGFB2 RNASEH2C ODC1 COL5A1 ITGA2 PKD2 ATP7A CPS1 STAT2 IFIH1 WRN FLNA GLA TRAF7 F7 PLCB4 TNNT2 MAT2A SDHB PCNT MT-CYB PMM2 WIPF1 ITGB3 TBX20 MYPN MYBPC3 MTHFR DOCK8 DYRK1B MPL F13A1 CITED2 PRKCH MT-TQ TGFBR1 ABCG8 PIGA FGB MT-TW CYP11B2 TTR ACTB ANGPTL6 SUFU CRELD1 DCX MSX2 HBB MAX CD109 NF2 FLNC XYLT1 TNNI3 GP1BB RET ERCC8 DPM3 MCCC1 OBSL1 ALOX5AP RNF213 F2 CACNA1D PRKAR1A LDLR SDHC THSD1 DLST TGFB3 ELN PIK3C2A LOX TET2 MCFD2 ANTXR1 ACAD9 MT-ND4 GATA6 EPHB4 STIM1 LMNA WFS1 OTC TMEM127 NKX2-5 ERCC6 TGFBR2 GCDH COL5A2 F8 EPAS1 THPO MYH6 COL4A2 ACVRL1 KCNQ1 SDHAF2 GTF2IRD1 FH PDGFB COL1A1 SERPINF2 SCN5A USP18 RFC2 SERPINE1 GUCY1A1 BAP1 TGFBR3 ITGA2B MCCC2 SDHD F13B COLGALT1 CST3 CFH ADAR ADA2 NRXN1 GP1BA GBA SON SNAP29 NAGS PNP PROS1 PET100 MT-TV GANAB TNXB RFT1 SDHA GATA2 NF1 GYS1 MT-CO2 EDN1 MT-TH PLOD3 PIK3CA PCCA HELLPAR TLL1 SMO ALPL TERT TPP2 FN1 KRIT1 RASA1 KRAS WAS SLC2A10 LDLRAP1 JAG1 NR3C1 SAMD9 MMUT BGN ACTG1 AGXT NPPA PROC CUL7 FOXE3 GDNF ZMPSTE24 MT-TK APOB GDF2 CCM2 DNMT3A LMBRD1 MDH2 RNASEH2A RNF168 PRNP SH2B3 LMAN1 CPT2 IL6 CALR MYD88 BAZ1B NGLY1 TANGO2 FCGR2C PCCB IVD HP_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSKINESIA DCPS IQSEC1 MT-ND4 ARV1 NDUFS4 VPS13C UNC80 SLC2A1 TRAK1 SURF1 ATXN10 FOXG1 NTRK2 AGA UCHL1 SLC6A3 FTL MBOAT7 GABRG2 KCNMA1 PMS2 ATXN7 SLC1A2 KRAS C12orf4 VPS35 KCNA1 GRIN1 CLIP1 DNAJC13 NDUFA13 MBD5 GABRB2 PIGQ ZMYND11 NDST1 NALCN NECAP1 SIK1 SLC25A10 PINK1 MED23 PLP1 FAN1 TAOK1 PNKD SZT2 CRBN SCN8A MYT1L B4GALNT1 CSNK2B MRM2 TSEN54 FRRS1L STXBP1 CACNG2 TMEM43 MSH6 GNAS PRSS12 SLC35A1 DPYS ASH1L SLC30A9 MT-TV GRIN2B CRADD SYNJ1 PNKP ADCY5 EPCAM MLH3 CAMK2B NDUFS8 PDE10A CLTC DEAF1 FMN2 GABRA2 WASHC4 MT-ND1 SLC45A1 PRKRA SLC25A22 BRSK2 ATP13A2 HCN1 CDK19 SYNGAP1 ATP6V1A FBXO31 SLC18A2 MT-ND6 GRIK2 SARS1 MT-TL1 METTL23 MT-ATP6 EIF4G1 SCN1B SLC39A14 SCN3A EPB41L1 NEUROD2 CDH15 CUX2 NDUFS2 SNCA KCNA2 PURA CACNA1A KIF1A KDM5B LRRK2 INPP5K DOCK8 MSH2 MT-TK CDKL5 ZC3H14 YWHAG GBA RAB11A MED12L ACAT1 NSUN2 SLC46A1 SIL1 PRRT2 GNAO1 FGF12 CC2D1A PODXL TGFBR2 GABRB3 STX16 KCNB1 MECR PANK2 PIGP HNMT C9orf72 TRIM8 JAM2 HIVEP2 MED25 NDUFAF3 PNPT1 AARS1 PPP3CA DYNC1H1 DALRD3 B3GALNT2 TRPM3 GRIN2D TUSC3 PGAP1 HTRA2 WIPI2 MT-ND2 DNAJC6 MAN1B1 SCN2A TNIK RAB39B EZR EDC3 AP3B2 VPS13A FASTKD2 DMXL2 LINS1 MLH1 LMAN2L PDGFB YIF1B NUS1 KCNQ5 CAMK2A AIMP1 MT-TW PIK3CA SLC13A5 XK KIRREL3 PMS1 ST3GAL3 ARX NDUFB8 CYFIP2 EEF1A2 PARK7 WWOX UBA5 TRAPPC9 DDX3X CASK CACNA1B SYT1 SET RSRC1 MT-ND5 CNKSR2 FGF14 CIC DNAJC19 GIGYF2 COQ2 GABRA5 RPS20 IREB2 TECR MICU1 PARS2 CUX1 CHMP2B CHAMP1 PRKN ACTL6B MT-ND3 SEMA4A BMPR1A DNM1 PIGC TCF4 TSEN2 SCO2 MRE11 DHDDS HP_ANGIOEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOEDEMA CPN1 SPINK5 XPNPEP2 SERPING1 DNASE1L3 PLCG2 F12 HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA STK11 XYLT1 MTX2 XYLT2 KRT14 ABCC6 HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY USB1 VDR CYP2R1 TINF2 RECQL4 AMER1 NPM1 ANAPC1 CLCN5 TNFRSF11A NOP10 PLCB3 TCIRG1 TERC CTC1 DMP1 SLC29A3 WRAP53 PARN PORCN ENPP1 RTEL1 TNFRSF11B NHP2 CYP27B1 PTH1R SLC34A3 TRPV4 DKC1 NOTCH2 TERT HP_PREMATURE_SKIN_WRINKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_SKIN_WRINKLING ATP6V1A KCNJ6 EDAR CDH11 TGM5 PTEN ZNF469 TALDO1 SLC25A24 TINF2 MED12 ATP6V0A2 CSTA KRAS NAA10 ALDH18A1 COG5 COL3A1 LMNA POLR3A FBLN5 ELN PARN TOR1A PIK3R1 BRAF PLOD1 FGFR2 EDA EDARADD TERT SMARCA2 FGFR3 ENPP1 TWIST2 RTEL1 RIT1 C1R ABCC6 RAF1 ATP6V1E1 MAP2K1 ZMPSTE24 ACD PTPN11 MAP2K2 TBL1XR1 DKC1 PYCR1 ADAMTS2 HP_LACK_OF_SKIN_ELASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_SKIN_ELASTICITY PHGDH ALOXE3 USP8 SULT2B1 PDE8B PRKAR1A COL5A2 NIPAL4 AIP HRAS FBN1 TGM1 CUL4B TGFBR1 SMARCAD1 PDE11A POLD1 DLG4 SMAD3 ALOX12B LIPN LMNA TGFB2 ENPP1 COL1A1 FBLN5 PRKACA TGFBR2 ADAMTSL2 PAH ABCC6 GNAS COL5A1 ABCA12 ZMPSTE24 TP53 PSAT1 EFEMP2 CYP4F22 SDR9C7 WRN HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY TNFRSF11B FXYD2 SLC12A3 LMNA SLC12A1 PDGFRB CDC73 ANKH KCNJ1 ATP7A ATP7B GCM2 CLCNKB DMP1 MEN1 ALPL GNA11 ENPP1 PHEX AP2S1 HLA-B NOTCH3 WRN HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA KMT2B RHO CLIP2 RDH12 SLC7A14 TCF4 AP3D1 TYR GUCY2D RNF113A CHD3 SNRNP200 TOPORS CEP290 ZNF469 EYS MAG BRCA1 FANCI USP9X SEMA4A LOXL3 MYT1L DPYD RP2 RPGR ARID1B PRPF4 IDH3A CNGB1 PDE6B USP45 LCA5 SLX4 TRMT1 ACTL6B ARCN1 MBD5 CLRN1 SAG POGZ ANKRD11 FANCB FBXW11 PIEZO2 IFT140 FLNA BBS2 NRL GTF2E2 VSX1 KCNJ13 MED13 GTF2IRD1 GTF2I DNAJC21 SCAPER FANCM CACNA1F KCNV2 RNU4ATAC ACTL6A TBCE C8orf37 TANC2 PDE6A RFC2 PALB2 RPE65 BLOC1S3 KIZ RP1L1 PRDM5 FIBP HARS1 OVOL2 ARL2BP RP1 DYRK1A KLHL7 MAN2B1 AIPL1 TBL2 KDM5B AHI1 RPGRIP1 DOCK3 LRAT TRIM37 DDX6 COL9A1 DSE POMGNT1 CRX ARHGEF2 XRCC2 ZMIZ1 LMX1B SETD5 AGBL5 PACS2 GLRB TULP1 RD3 RAD51C COL3A1 GDF6 SLC2A10 PROM1 FOXE3 LIMK1 MPLKIP COL8A2 ZNF513 SETD2 MBTPS2 NTNG1 TCF20 FANCE PCARE MIR184 COL1A2 IMPG2 RP9 SMARCAL1 ARL6 IMPDH1 CHST14 FSCN2 RERE AHR RAD51 PCYT1A YY1 MAK CHD4 PDE6G CRB1 IQCB1 BBS9 INTS1 SPATA7 NIPBL ERCC3 CHST6 MARK3 KIAA1549 COL11A1 PIGT NEK2 CHMP1A PRPF3 CERKL PRCD EMC1 COL4A1 KMT2E FANCD2 GNPTAB HRAS IFT88 TUB TBC1D7 BBS1 C1QBP BRIP1 NEUROD2 NR2F1 SLC39A8 MT-TS2 RGR PIGQ P4HTM DHX38 SVBP IFT172 CEP78 KRAS APC2 ZEB2 CCDC28B AP1B1 TTC8 RLBP1 CNGA1 CC2D2A NR2E3 ERCC4 ERCC2 ANTXR1 STXBP1 COL9A3 TARS1 TEAD1 CHRDL1 FANCF PRPH2 GTF2H5 SLC25A24 REEP6 PPP2R5D DMPK RLIM ARL3 GALNT2 GUCA1B NMNAT1 IDH3B AEBP1 BPTF USH2A BRCA2 GPR143 KAT6A BEST1 RHOA NSD1 ARHGEF18 PRPF31 FANCC FAM161A MAP3K7 ADNP PSMD12 CDHR1 PRPF6 MERTK PITX2 PLOD1 ZEB1 NFIX BCORL1 BAZ1B ELN KERA ROM1 FANCL ZNF408 PRMT7 HGSNAT HK1 H1-4 GRHL2 PRPF8 WAC UBE2T RFWD3 FANCG RBP3 FANCA CA4 MAD2L2 VARS1 GNB5 KIDINS220 CLDN16 OFD1 COL9A2 WDFY3 ABCA4 PPP1R12A EBF3 KIF11 GATAD2B ARSG TRAPPC4 CLDN19 DHDDS UBE3B HP_IRIDODONESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDODONESIS ADAMTS17 LTBP2 CPAMD8 CHRDL1 FBN1 HP_TIBIAL_TORSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_TORSION GABRD SLC29A3 SCN1A STXBP1 SLC26A2 GABRG2 HCN1 PCDH19 FIBP STX1B SCN1B GABRA1 SCN2A SCN9A RBM8A ADGRV1 DDX6 HP_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING RHO LAMB3 SLC7A14 COL5A2 ATP7A ERCC4 AEBP1 SNRNP200 TNFRSF11B TOPORS CPOX ZNF469 EYS BTNL2 SEMA4A CHST14 RP2 RPGR PRPF4 IDH3A CNGB1 PDE6B ERCC6 COL1A2 SLC35C1 SAG TGFBR1 KRT5 B3GALT6 C1S C1R OCRL IFT140 ITGB4 FLNA BBS2 NRL NCSTN B4GALT7 CYP26C1 SCAPER COL1A1 C8orf37 PDE6A HLA-A LAMA3 COL17A1 KRT14 KIZ CLDN1 RP1L1 SMAD3 COL7A1 PLEC EP300 GJB2 DST APC ARL2BP RP1 KLHL7 ECM1 TFAP2A AHI1 LRAT PRDM12 DSE POMGNT1 CLRN1 CRX NLRP1 NGLY1 CREBBP COL3A1 PROM1 ERCC1 ERCC8 ZNF513 UROS HLA-DRB1 PCARE IMPG2 LAMC2 RP9 COL5A1 NTRK1 FSCN2 AHR MAK ADAMTS2 PDE6G CRB1 ARL6 KIAA1549 NEK2 NCAPG2 SPATA7 PRPF3 CERKL PRDM5 PRCD CARMIL2 IFT88 RDH12 EBP RGR TULP1 IMPDH1 DHX38 TGFBI FKBP14 IFT172 CTSC LEMD3 NPPA TGFBR2 TTC8 RLBP1 CNGA1 NR2E3 MMP1 FERMT1 PRPH2 REEP6 ARL3 GUCA1B SH3BP2 IDH3B USH2A GATA1 RPE65 AGBL5 TUB BEST1 RHOA ARHGEF18 PRPF31 FAM161A MAP3K7 CDHR1 PRPF6 MERTK ITGA6 IKBKG SLC39A13 ROM1 ZNF408 HGSNAT PRPF8 RBP3 CFI CA4 OFD1 ABCA4 PLOD1 DHDDS MBTPS2 PPOX POLA1 HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY FGFR2 SHANK3 GANAB PKD1 PPP2R5D ARID2 DNAJC19 PUF60 KRAS PUS3 GPSM2 WAC SON FGFR1 RTTN NARS1 NEK1 XPNPEP3 TMEM231 NOTCH3 SCN2A FOXC2 PKD2 BICC1 SACS OFD1 ADAT3 NRAS HP_TONGUE_THRUSTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_THRUSTING STXBP1 GABBR2 CDKL5 MECP2 FOXG1 OCA2 KIF15 UBE3A BRAF SHANK3 NTNG1 HP_CEREBRAL_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VISUAL_IMPAIRMENT DCPS IQSEC1 NODAL GNB1 MT-TS2 CHD3 MBOAT7 MT-CO3 SHANK3 NADK2 DOCK7 C12orf4 SPATA5 FCSK DISP1 GRIN1 CLIP1 TELO2 TSEN15 TGIF1 SIX3 MAPK8IP3 MBD5 ZMYND11 POGZ NDST1 CACNA1B MT-TF MED23 FOXRED1 SEPSECS TAOK1 CACNA1D CRBN MYT1L COQ2 CSNK2B FRRS1L CACNG2 PRSS12 ASH1L AHDC1 VPS51 PIGP CRADD SMC1A CEP85L PPP3CA SHH CAMK2B MTHFS SPTBN4 PDSS2 DEAF1 PGAP1 FMN2 POLG2 GLI2 SNRPN WASHC4 RNF13 MT-TC SLC45A1 MT-TL1 ATN1 BRSK2 TSEN2 SON STAG2 SCN1A PYCR2 NAGA NR2F1 TRAPPC12 PET100 CDON MT-TV TSEN54 TUBGCP2 FBXO31 RAB18 RAB3GAP2 TRAF7 PTCH1 GRIK2 DLL1 SARS1 METTL23 GRM7 GAS1 BRAF EPB41L1 CCDC47 MT-CO2 CDH15 VPS11 NARS2 GABRA2 FGF12 VAMP2 KIF1A KDM5B MT-CO1 RERE CERT1 DOCK8 SYNGAP1 FGFR1 FOXH1 ZC3H14 ZIC2 RAB11A MED12L STXBP1 NSUN2 TBC1D20 TDGF1 COX6B1 DIAPH1 MT-CYB PIGT CC2D1A PIGA CLTC CHMP1A EMC1 COG5 CACNA1E RRM2B HNMT POLG CLCN4 FDFT1 NEUROD2 HIVEP2 TWNK MED25 MT-TQ PIGQ DYNC1H1 P4HTM B3GALNT2 TRPM3 GABRB2 TUSC3 PIGS AMPD2 HECW2 MAN1B1 MT-TW MT-ND1 TNIK EZR CC2D2A EDC3 PSMD12 FGF8 COPB2 LINS1 MT-ND6 MT-TK LMAN2L YIF1B ST3GAL5 GRIN2B KCNQ5 CAMK2A AIMP1 RAB3GAP1 GABRB1 PHGDH PIGY KAT6A KIRREL3 TRAPPC2L CDKL5 SLC25A1 ARHGDIA ST3GAL3 SLC35A2 EEF1A2 SCN3A ASNS TRAPPC9 ADNP GRIN2D RALGAPA1 TSEN34 SET RSRC1 PPP2R1A CIC TECR HK1 TIMM8A CUX1 ADARB1 CHAMP1 TBCK TANGO2 PARS2 MT-ND5 KIF5A PIGU PIGC TCF4 SELENOI DPM1 SLC25A4 HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY HTT SQSTM1 APC SURF1 CDKN1A CDKN2A EIF2B1 C11orf95 ERCC6 LRRK2 LONP1 PMS2 KRAS VPS35 DNAJC13 FUS THOC2 MT-ATP6 MAPT VCP ARX TREM2 GLUD2 KDM3B FAN1 GRN ATXN2 ATP6V1A ETFB SETBP1 TMEM106B ATXN3 SCO2 TSEN54 ADH1C MOCS2 SDHA BRAT1 UBQLN2 MSH6 TP53 SNCA PSEN1 EPCAM TSC1 MLH3 CHMP2B CDKN1B ADAR RELA MLH1 TBK1 NGLY1 CHCHD10 CSF1R ZNF335 EIF2B2 CHEK2 FBXO7 PRNP NF1 IDH2 PLP1 NUP62 EIF2B3 NBN STRADA TFG SETD2 EIF4G1 GDAP2 NDUFS2 COX15 NARS2 MSH3 MDM2 PLA2G6 MSH2 YY1 NF2 GBA ETFA TYROBP MOCS1 NR4A2 TGFBR2 NAXD PIGA CDKN2C EIF2B4 TBCD TSC2 POLG SLC30A10 C9orf72 NDUFAF3 ETFDH IFNG TLR3 CDKN2B APC2 VRK1 PDHA1 EIF2B5 MEN1 POT1 L2HGDH SMO PMPCA EHMT1 AIFM1 HSD17B4 TARDBP PIK3CA BRCA2 MAN2B1 KCNT1 AP4M1 TBP ERCC8 PMS1 NDUFB8 NSD1 ATXN8OS SERPINI1 AVP LRP5 KMT2C LMNB1 RANBP2 DYRK1A FARS2 IDH1 GIGYF2 RPS20 MTOR PAX2 LAMA2 SNCAIP ERBB2 LRPPRC SEMA4A BMPR1A PRKN HP_ABNORMAL_ASTROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY TSC1 APC PSEN1 CHMP2B SQSTM1 ADAR BRCA2 CDKN2A ERCC6 MAPT MLH1 ERCC8 GRN MSH6 TREM2 C9orf72 PRNP VCP NSD1 TSC2 MT-ATP6 NF1 POLG CHEK2 SLC30A10 TMEM106B TP53 IDH2 NUP62 IDH1 STRADA IFNG SETD2 APC2 MTOR LAMA2 PMS2 MSH3 POT1 ERBB2 MDM2 AIFM1 NF2 HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY AK9 MUSK GTF2H5 ITCH MIR140 CHRNA1 TRAPPC2 PCGF2 PUF60 CDH11 LRP4 MAN2B1 PEX5 ERLIN1 MGAT2 ERCC3 RNF113A CHRNE NARS1 AEBP1 CHRND TONSL GNPTAB SCN4A XYLT2 PHF8 LHX3 LMNA TPM3 SOX5 FLI1 ATRX ALMS1 EXTL3 IARS2 SLC26A2 ALDH3A2 MED12L PYCR2 TPM2 AMER1 COL2A1 GUSB TBX5 VPS33A HINT1 CHRNB1 WDR81 FLNB DOK7 DYM PIK3C2A ANKRD11 MPLKIP COL13A1 GTF2E2 SPRTN GBA FGFR3 SGCA NEPRO MOGS C12orf65 POP1 NEK9 SC5D PIK3R2 ZMPSTE24 SMARCAL1 TMEM231 AGRN MYPN DES RAPSN AIFM1 ERCC2 TUBB3 SRD5A3 NPR2 TARS1 PLOD1 RBBP8 GDF3 VPS13B HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY CDH11 BMPER MAN2B1 COL2A1 MGAT2 GBA FGFR3 NEPRO GNPTAB SC5D POP1 LHX3 ERLIN2 EXTL3 SLC26A2 NTRK1 MED12L AMER1 GUSB VPS33A NPR2 RPS6KA3 FLNB HP_SELF_INJURIOUS_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_INJURIOUS_BEHAVIOR GRIA3 NFIX RPS6KA3 TCF4 KMT2C MGAT2 AP1S2 SLC6A17 SPATA5 PAH KCNA1 DPYD HDC GRIN1 FLII THOC2 MAPK1 KIF15 MBD5 PIGQ ZMYND11 POGZ MAGEL2 NALCN RAI1 SIK1 MAOA OCRL SNRPN TAOK1 FMR1 DHCR7 MYT1L CSNK2B NAA10 NDN CACNG2 VPS13A ASH1L EP300 CLTCL1 PNKP DNM1 CAMK2B DEAF1 NRXN1 UNC80 HTR2A SLC25A22 SOX5 BRSK2 GABBR2 INPP5E SIM1 SMARCC2 CREBBP ALDH5A1 SLC6A4 CDH2 SLITRK1 SKI TRIO ELP2 CNTNAP2 HERC2 GRM7 SCN1B EPB41L1 GJB2 IQSEC2 NEUROD2 CDH15 GAMT VAMP2 DCHS1 NTRK1 KIF1A RERE DOCK8 GRIA2 SYNGAP1 CDKL5 ATP1A1 RAB11A ADSL MED12L STXBP1 LARP7 KDM5B BCOR SLC6A8 USP7 NIPBL TKT ABCA12 GNAO1 NDP CLTC HDAC4 RLIM TSC2 PIGP MADD SCN11A TRIM8 HIVEP2 AUH RPL10 PPP3CA SHANK3 DYNC1H1 NDE1 TRPM3 ATRX HPRT1 NTNG2 SLC1A4 HECW2 SVBP SCN2A WAC KCNAB2 PRDM16 OCA2 DMXL2 ZBTB20 CLCN4 EHMT1 WASF1 GRIN2B SATB2 KCNQ5 CAMK2A GLS TMEM231 KIRREL3 ODC1 EEF1A2 TSC1 CASK SYT1 SET CIC ARX GABRD CTNNB1 KMT2E CUX1 FOXP1 RTTN CHAMP1 NAT8L KPTN FBXW11 GATAD2B FAT4 TMCO1 SPOP HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE OSGEP TPRKB TP53RK NUP133 WDR4 NUP107 WDR73 CD96 LAGE3 DDR2 HP_MEDIASTINAL_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIASTINAL_LYMPHADENOPATHY FOXP1 CYBC1 MAGT1 PTPN22 NCF2 PRKCD EIF2AK4 HLA-DRB1 BCL6 CYBB MALT1 EWSR1 CYBA RASGRP1 BIRC3 BCL2 BTNL2 BCL10 TERT APOE NCF4 WT1 NCF1 HP_GASTROINTESTINAL_STROMA_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_STROMA_TUMOR CR2 SDHC MS4A1 TNFRSF13C TNFSF12 TNFRSF13B CD81 PDGFRA SDHB SDHD SDHA NFKB1 CD19 KIT PRKCD NF1 NFKB2 ICOS HP_HYPERCOAGULABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCOAGULABILITY SLC4A1 SPTA1 EPB42 HBB ANK1 HRG PROC F5 DLD GATA2 PIGA THBD F9 SPTB PROS1 AGGF1 MYD88 HP_LICHENIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LICHENIFICATION TNFRSF1B CD28 CTLA4 FLT4 LBR NTRK1 VEGFC OSMR CARD14 GJC2 COL7A1 HLA-DRA CSTA HP_GERM_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERM_CELL_NEOPLASIA KEAP1 WT1 SOX9 PIK3CA STS NR5A1 RNF43 TP53 CDKN2A SRY GATA4 NSD1 MNX1 AKT1 CHEK2 CDH1 SETBP1 MAP3K1 DICER1 IGF2 DHH SETD2 PRKN APC2 KCNQ1 ZFPM2 KCNQ1OT1 FGFR2 CTNNB1 CDKN1C DHX37 PAX6 MDM2 MSH3 AR OPCML NR0B1 VAMP7 DMRT3 WWOX HP_LARGE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FACE APC2 ACTA1 TET3 CCDC174 NFIX APC PQBP1 ARMC9 ERCC4 AGA TBX1 RMRP AP1S2 TPM3 NHS SLC9A6 TMEM231 CCDC115 BCOR EXTL3 RPGRIP1L MGP PHF8 MYT1L UFD1 FLII MMACHC CXorf56 TPM2 ERCC6 B9D1 TRMT1 FMR1 FBXO11 INPP5E KANSL1 ACTL6B MAP3K20 RAI1 ANKRD11 PAK1 KIF7 ZNF711 FBXW11 MAN1B1 OCRL SEC24C KCNK9 SOX6 MED13 RIC1 FAM149B1 NEB ASXL1 TAB2 SLC9A7 RREB1 KATNIP MOCS2 PTEN NSUN2 ACTL6A TANC2 CPLANE1 MSTO1 MYPN HNRNPK TAF1 SMAD3 AKT1 HIRA PDE6D SYT2 NFIA SPEG OFD1 NKAP BCR B3GLCT OTUD6B DOCK3 TMEM67 CHAMP1 CC2D2A DDX6 DEAF1 ITGA7 DDR2 EYA1 KIAA0753 GPR101 TMEM138 SETBP1 CLCF1 GP1BB PRKACA ALKBH8 SELENON TCTN2 TCF20 SNAP25 RUSC2 CHRNB1 SUFU SNAP29 TMEM237 ARL13B RAPSN FBN1 NF1 SLC2A10 C12orf57 BRAT1 IDUA SLC5A7 ERCC1 RYR1 SATB2 POLA1 STRADA RAB39B CEP41 MTM1 SETD2 PTCH1 NTNG1 CHAT MYH3 FGF3 IQSEC2 AHI1 PURA NFIB AGRN SMS ATAD3A HUWE1 JMJD1C CAMTA1 PTCH2 TLK2 CEP104 CRLF1 ZMIZ1 GFPT1 PRDX1 HYLS1 MAP2K2 SLC18A3 CHRNG CHRNE VAMP1 AIP SLC25A1 EIF2S3 MOCS1 CSPP1 NBAS TTN SIN3A PMM2 KRAS SLC6A8 TMEM216 COL13A1 KMT2E HDAC4 COMT HRAS MKS1 NSDHL WNT7A PDE4D UBE2A CLCN4 BRAF MYH7 COL3A1 TCTN1 CRKL SVBP SYNGAP1 UPF3B PEX13 HERC1 RPL10 SGCG KBTBD13 MAPK1 HACD1 SNX14 MAP2K1 MED12 TRAIP BIN1 PIGK KIAA0586 CEP57 ADAT3 NONO UBE3B PRKACB KLHL41 PPP2R5D PCGF2 MYL2 NPHP1 RLIM ZNF423 GALNT2 XRCC4 BPTF CEP120 ARVCF KAT6A ARL3 NSD1 BRWD3 FLNB DDX3X PSMD12 OPHN1 PIBF1 SIX1 TGFB3 BCORL1 MYO9A SLC12A6 PBX1 FLNA RECQL4 ERCC8 MID2 TBL1XR1 PIGU TCTN3 WDFY3 MEIS2 PPP1R12A ASXL2 EBF3 CEP290 TRAPPC4 ATP7A POC1A HP_PANCREATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_FIBROSIS TMEM107 WDPCP TMEM231 CC2D2A B9D2 NPHP3 TMEM67 TCTN2 PTRH2 RPGRIP1 CEP290 MKS1 TMEM216 RPGRIP1L CSPP1 NEK1 CEP55 B9D1 DYNC2I1 HP_NEOPLASM_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND CASR FLCN CDKN1B CDKN1A SLC12A3 CDKN2B PRKAR1A MEN1 CDC73 GCM2 CLCNKB CDKN2C TSC1 TSC2 NF1 IDH2 IDH1 RET HP_HYPERTENSIVE_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSIVE_CRISIS HLA-DRB1 IRF5 HLA-B MLX COMT SEC24C MYMK IL12B TBX1 UFD1 CCN2 HIRA JMJD1C CCR6 CAV1 GP1BB ARVCF RREB1 HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY TP63 FKTN NODAL PIGW CDH11 GLI3 PGAP3 SMPD4 KMT2C XYLT1 PTDSS1 SF3B4 DGCR6 BRCA1 BCOR TSR2 COL11A1 DISP1 STAC3 PIEZO2 SLX4 AMER1 LARGE1 TGIF1 SIX3 RXYLT1 TUBB6 TGFBR1 SELENOI SRCAP FANCB KIF14 BMP4 FLNA KCNK9 IRF6 FANCM ADA2 ESS2 GNAI3 THOC6 SEC23A RPL35 RPL15 PALB2 SETD5 SMAD3 RPL31 ALG3 SEMA3E POMT1 RAI1 CRPPA SPEG B3GALNT2 SMC1A TGFBR2 MSX1 IFT140 ORC4 SHH PHGDH DGCR8 GLI2 SNRPN FANCI EYA1 XRCC2 GATA1 NXN CDC6 RPL26 UBB SON TXNL4A STAG2 TBX1 DLX4 MAP3K7 FGFR2 RAD51C USP9X ATP6V1B2 HYAL1 GRHL3 RPL5 HAAO CDON POMT2 PIGV MSX2 RYR1 DVL1 SHMT2 RNU4ATAC POLA1 PTCH1 PIGL DLL1 CDH1 GAS1 PGM1 FANCE SMAD4 CDT1 EDN1 KCNN3 FTO SATB2 ROR2 NEK1 SPECC1L RPS15A DHCR24 RAD51 FGFR1 FOXH1 ARHGAP29 ZIC2 GMNN RPL27 TDGF1 PLCB4 POMK RECQL4 TBX22 TTN DDX59 PGAP2 KIF7 TTC37 EIF4A3 FANCD2 RLIM HNRNPK RPS17 HYLS1 RPL11 RPS19 BRIP1 COL4A1 DLG1 COL2A1 NECTIN1 SMCHD1 BGN ZEB2 RPL35A RPS10 KCNH1 PIGY RPS7 FGF8 POLR3A WDR35 ORC6 ERCC4 DGCR2 FANCF TCTN3 TBCE AMMECR1 AEBP1 SNRPB CHD7 SERPING1 RPS24 BRCA2 TCOF1 POMGNT1 RPS26 RPS28 FANCC DDX3X DYRK1A RPS29 B4GALT7 RPL18 SMS DLK1 SIX1 PIGO TGFB3 CDC45 KAT6B SLC39A13 FANCL SLC25A19 DAG1 FKRP TGFB2 UBE2T RFWD3 FANCG FANCA ORC1 TMEM231 MAD2L2 POMGNT2 RPS27 FKBP14 MEG3 B4GAT1 SMARCD1 PSAT1 RTL1 BIN1 HP_ABNORMAL_EATING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EATING_BEHAVIOR ACAT1 LARP7 VAMP1 PSEN1 MC4R MN1 SLC25A1 DHPS SLC3A1 ITPR3 ALMS1 SLC2A3 CACNA1A HNF1A LEP COL13A1 DPYD GNAS SIM1 SH2B1 MKRN3 SNORD115-1 BSCL2 POMC MBD5 ATP10A MAGEL2 NDN PTPN22 CTNNB1 SNRPN GRN SYNGAP1 UBE3A MAPT NKX2-1 SLC25A13 KCNAB2 PRDM16 PCDH19 OCA2 SYT2 MEN1 HTT SLC7A7 SETD2 SATB2 MAN1B1 PLA2G6 KCNJ10 PWRN1 CLCNKB SNAP25 LEPR HERC2 ADNP PREPL NTRK2 SKI AGPAT2 PWAR1 SLC5A7 ELP2 SLC5A2 MYO9A GABRD SLC12A3 CHAT BRAF AGRN IL6 GPR101 NPAP1 PCSK1 PACS1 SNORD116-1 RERE SLC18A3 HP_VASCULAR_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_NEOPLASM SDHD SRP54 PUF60 ZIC2 SHH GLI3 SEC23B TET2 FGFR1 SDHB GFI1 TMEM127 MGAT2 RECQL4 PTEN GNPTAB KRIT1 SMAD4 NOTCH1 RASA1 WNT5A RET NDP FGFR2 NRAS KRAS EXTL3 MTMR14 LETM1 SIX3 VHL SLC26A2 CCDC22 TSC2 ARID1B STAC3 KANSL1 BRAF CD96 PIK3CA GNAQ AGGF1 DIS3L2 PDCD10 CPLX1 IFNG DISP1 GNA14 TBC1D24 BMPR1A SDHAF2 APC2 CYP26C1 FH LEMD3 NSD2 TSC1 DHCR7 SETBP1 USF3 ASXL1 DLL1 ENG SEC23A ARL6IP6 MYF6 ESCO2 KLLN CALR RYR1 MAP2K1 GDNF KDR NODAL AKT1 RRAS2 ANTXR1 JAK2 SDHC SRD5A3 GDF2 HRAS SUFU TGIF1 IDH1 CCND1 TFAP2A MAX FLT4 GLI2 MDH2 EIF2AK4 WASHC5 EP300 CTBP1 GAS1 HOXD13 FGF8 NELFA ACVRL1 FGFRL1 KDM6B NSD1 CREBBP GPC6 DVL3 NF1 CDON TDGF1 KIF1B IDH2 DLST MTOR CTSA SDHA SETD2 MTM1 TEK MSL3 SLC25A11 DNM2 FOXH1 MPL DVL1 TBX2 OFD1 CCM2 PTCH1 BIN1 ELANE FZD2 TCIRG1 MAP2K2 DPM1 PTH1R HP_NEOPLASM_OF_THE_RECTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RECTUM MLH3 BMPR1A POLE KEAP1 AXIN2 PIK3CA NTHL1 RNF43 CDKN2A POLD1 PMS1 TGFBR2 MSH6 PMS2 KRAS SDHD AKT1 SDHB SEC23B CHEK2 GREM1 FAN1 DICER1 RPS20 SDHC STK11 USF3 PTEN SDHA SMAD4 KLLN TP53 ENG KIT MDM2 MUTYH MSH3 SEMA4A MSH2 MLH1 PDGFRA EPCAM HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT FGFR2 WNT7A ATR CHRNG NOG SHOX IFITM5 TBX15 NIPBL FZD2 SCARF2 EP300 POR CD96 COL5A2 EXTL3 MAP3K7 ARID1B CREBBP GPC6 B4GALT7 PTDSS1 KIF22 B3GALT6 FLNA SLC39A13 SKI COL27A1 B3GAT3 CYP26B1 CHST3 DONSON ASXL1 COL1A1 RNU4ATAC BMP1 ERCC1 PRKAR1A FGFR1 NOTCH2 COL5A1 FGF9 EXOC6B GSC GDF5 HP_CHEST_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEST_PAIN SDHD JAK2 MLX ENG MAT2A HLA-DQB1 SDHB SPP1 TGFBR2 RASA1 MEFV PRKG1 HLA-DRB1 RET WIPF1 STX16 TET2 BTNL2 WAS MPL EPAS1 GNAS THPO MYBPC3 SCN4A VHL ACTA2 PLN SMAD4 DLEC1 SCNN1A HLA-DQA1 TMEM127 DBH TP53 SDHAF2 FH TSC1 TSC2 CFTR SMAD3 FOXE3 PRTN3 MYL2 TMEM43 CDH2 ELN MYH11 IL12B TGFB3 CRLF1 NOS1 FBN1 MYLK WWOX COL4A6 MAX DNMT3A MDH2 DPM3 HLA-DPA1 MT-TK RNF6 PRKAR1A TNFRSF1A COL3A1 COL4A5 SDHC APC CTLA4 DLST CALR NOD2 HLA-B MFAP5 TGFBR1 LOX SDHA TNNC1 SCNN1G HBB MYH7 SLC25A11 NF1 HLA-DPB1 PTPN22 SH2B3 STAT4 TGFB2 CTNNB1 SCNN1B IRAK1 MEF2A KIF1B PPOX HP_ATELECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATELECTASIS NME8 SPAG1 PLEC RSPH1 GAS2L2 RPGR TTC12 GAS8 CFAP300 TBX1 DNAH5 CXCR4 TTC25 RSPH4A DNAAF5 GP1BB CCDC151 ARVCF ARMC4 DNAL1 DNAH11 RIPK4 COMT CCDC40 DNAH9 HYDIN UFD1 CCDC114 DNAI2 SFTPC B3GALT6 LRRC56 OCRL SEC24C DRC1 DNAAF1 CCDC103 NHLRC2 ABCA3 DNAH1 ZMYND10 TSC1 TSC2 CFAP221 PAX3 CCNO LAMA2 DNAJB13 DNAAF6 MCIDAS RREB1 SPEF2 SFTPB CFAP298 LRRC6 FOXJ1 HIRA OFD1 CCDC39 RSPH3 STAT3 JMJD1C DNAI1 STK36 RSPH9 NEK10 CCDC65 DNAAF4 DNAAF2 DNAAF3 ASAH1 HP_ESOPHAGEAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_NEOPLASM SDHA STAT1 MSR1 RNF6 APC KIT ASCC1 RHBDF2 SDHC STK11 BLM FH CTHRC1 SDHB RAD21 COL4A5 PDGFRA TGFBR2 WWOX DLEC1 COL4A6 HP_SCHIZOPHRENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZOPHRENIA KRT81 USH1G KRT86 DSG4 APOL4 GJA5 RBM12 RTN4R ARSA TBX1 MED12 USH1C GP1BB COMT ARVCF ADGRV1 SHANK3 DNMT3A FLI1 VPS35 DNAJC13 UFD1 PDZD7 SETD1A PRODH UPF3B APOL2 PCDH15 CLRN1 MYO7A ZDHHC9 GJA8 MT-TS2 SEC24C HTR2A SYN2 GIGYF2 CEP78 EIF4G1 CAT PSAP CHRNA7 RREB1 CHI3L1 CIB2 KRT83 DAOA NKX2-1 MSTO1 WHRN ATP2A2 SNCA HIRA LRRK2 USH2A JMJD1C MT-TE HARS1 MTHFR ARSG GBA DRD3 CDH23 ESPN WFS1 HP_MANIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANIA POLG SMPD1 SEC24C USP8 MT-ND5 MT-TW TBX1 MT-CO3 MT-TL1 CHRNA7 GP1BB MT-TQ ARVCF MT-TH RREB1 MECP2 MT-ND4 CDH23 SLC25A13 MT-CO1 DNMT3A COMT TBCK FLI1 ATP2A2 UFD1 MT-ND6 FA2H HIRA RRM2B CLCN4 JMJD1C MT-ND1 MT-TS2 MT-TF CEP85L MT-CO2 RPS6KA3 POLG2 SLC25A4 TWNK HP_ABNORMALITY_OF_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SALIVATION NOD2 ATP6AP2 PAK3 FBLN1 FOXG1 AP4M1 STRADA PPARGC1A ATRX DMD SLC9A6 GDI1 EXTL3 ATP7B UNC13A SOD1 CHCHD10 GLT8D1 SCN9A KIF15 POLR3A GABRG2 MAGEL2 B2M MECP2 ARHGEF6 ZEB2 FOXP2 RPS6KA3 EPHA4 CAV1 GSN AP4E1 CLDN10 SRSF2 C9orf72 PRPS1 GFM2 TET2 GRIN2A PTS TANGO2 PFN1 DLG3 POU3F3 FGF10 PDE10A QDPR NRXN1 ASXL1 SRPX2 PCDH19 UPF3B NEK1 DEAF1 GABBR2 SETD5 OPTN SIM1 USP9X TH UBQLN2 IQSEC2 PON3 TARDBP SHMT2 CNTNAP2 POLR3B FIG4 NEFH ALS2 CCR6 MED12 SCN2A ACSL4 TAF15 DAO SATB2 CCNF FGFR3 CBL CERT1 HPDL PON2 ATP1A3 DLK1 VAC14 IKZF1 LBR VAPB FGFR2 SPART TP63 EIF2S3 TUBB2B ZNF81 PMP22 GPT2 SYP CHRM3 ATP10A TREM2 MID2 PRPH NTNG2 GCH1 AGTR2 ZNF711 DLAT UBE3A ZC4H2 AP4S1 HERC1 MEG3 SNRPN CNKSR2 TBK1 SCN1A VPS13A SLC16A2 GLE1 RTL1 MATR3 FUS AP4B1 SCN1B ANXA11 CLCN4 ALG13 GNS PCGF2 SLC12A2 ZNF41 CHMP2B PTCHD1 PLA2G6 SERPING1 TSPAN7 RAB39B SLC9A7 FRMPD4 ADGRG1 ATXN2 USP27X ARX CFAP410 CXorf56 RUNX1 HLA-B ERBB4 HLA-DRB1 IRF5 STXBP1 BCORL1 TASP1 EDARADD SLC12A5 CCN2 PON1 GABRA1 HNRNPA1 PI4KA FOXP1 IL1RAPL1 DCTN1 FTSJ1 VCP OCA2 SQSTM1 HCFC1 ANG ZBTB11 MRE11 HP_GANGRENE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGRENE ALOXE3 CD28 NPM1 MLX ERAP1 TLR4 ZBTB16 SULT2B1 RARA ABCC6 NABP1 HLA-DPA1 STAT5B NIPAL4 CTLA4 STAT3 NUMA1 UBAC2 TGM1 CCR1 PROS1 AGXT STAT4 HLA-B MEFV PRKAR1A ALOX12B FIP1L1 ENPP1 KLRC4 IL23R LIPN PTPN22 IL10 FAS CAT IL12A PML PROC HLA-DPB1 BCOR PRTN3 TNFRSF1B IL12A-AS1 ABCA12 IL12B C4A KIF11 TBL1XR1 IRF2BP2 CYP4F22 SDR9C7 HP_CLUBBING_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_FINGERS TLL1 SFTPA1 STK11 PSMB8 ATP11A BMPR1A INTU TERC RTEL1 CD55 SFTPA2 ABCA3 SLC5A6 ATRX FAM13A STN1 MUC5B NCKAP1L LRBA DPP9 PARN DSP RASGRP1 PTEN SFTPC TERT NLRP3 PTH1R HP_CLUBBING_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_TOES FANCB TLL1 HPGD SLCO2A1 FANCL FANCI FANCE SMARCA2 FANCM XRCC2 UBE2T GJB6 UBE2A RFWD3 BRCA1 BRCA2 FANCG FANCA FANCD2 PALB2 MAD2L2 PIGL FANCC RAD51C RHBDF2 ERCC4 SLX4 RAD51 BRIP1 FANCF HP_VISCERAL_ANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISCERAL_ANGIOMATOSIS SLC26A2 ACVRL1 IDH1 PIK3CA TEK GNAQ FGFR1 PTEN KRAS SMAD4 IDH2 GDF2 ENG AKT1 FGFR2 PTH1R HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM LYST NOD2 CR2 JAK2 CDKN1A GP1BA CXCR4 PEX5 AGA KCNH1 HLA-DRB1 RORC CCDC115 CTLA4 TTC37 RAG2 BTNL2 IRF8 DIS3L2 RTEL1 ACP5 GPI BCL10 CCDC114 CTNS CEP55 IDS STAT4 PIK3CD NPC2 PRF1 NPHP3 GDF1 PSTPIP1 OTC ATRX SLC29A3 IL23R SP110 CCDC103 CD3D PIEZO1 NSD2 TSC2 GSN SLC25A13 WT1 LRRC6 CLDN1 VPS13A FUCA1 SCNN1G TBL1XR1 PHKA2 FOXF1 DCDC2 IL7R JAK3 TMEM107 SPTB ALG9 GAS8 NCF2 GPC3 CDON CCND1 ATP8B1 TSC1 RARA MITF SOS1 GP1BB EPB41 RFWD3 SDHD DNAH9 PKLR TBXAS1 UBAC2 APOE MKS1 FLT4 HBG2 GLRX5 CALR GATA1 SKIV2L ABL1 LACC1 NEK8 GLB1 GUSB ERCC8 FASLG RELN DNASE1L3 DNAAF1 COL18A1 COG7 STEAP3 LBR FMO3 MALT1 EWSR1 DCLRE1C IRAK1 SOX18 RAC2 SNX10 C4A BLM TNFRSF1B DKC1 TNFSF11 STAT2 CYP7B1 COX10 TNFRSF13C MAGT1 TET2 VPS45 MVK NABP1 WIPF1 IFT172 COMT HMGA2 MINPP1 CCR1 SLC30A10 DLEC1 PRKAR1A GLIS3 PSAP RAG1 TCTN2 THPO NLRP3 FERMT3 TNFRSF11A SPEF2 TMEM67 RAB23 PEX2 SLC4A1 BRCA2 GBA XIAP PEPD AKT1 DNAAF2 HBB CDIN1 CDK4 XK ERAP1 BRCA1 TTC25 LIPA CYBB ANK1 EPB42 RNF6 RNASEH2A LAT TTC7A TNFRSF1A AICDA NFKB2 RRAS RUNX1 ZEB2 HABP2 MEFV HLA-B FGFR2 CD40 TRNT1 RIT1 COG4 NOP10 STRA6 DDRGK1 SC5D EPG5 SH2B3 SCARB2 WDR35 LPL ISG15 LMNA CCDC39 ADA CASR STIM1 NCF4 INPPL1 RERE APOA1 NME8 BCR SMPD1 HPGD CPOX POMP ERCC6 CD19 CCDC151 SUMF1 HBG1 RRAS2 CAVIN1 CDKN1B RPSA SPTA1 FAS CARD9 STAT3 UFD1 TCIRG1 ABCG8 FARSA LEMD3 ITCH TRIM28 TNFSF12 OCLN HK1 ZMYND10 FGB NEK9 DNAAF6 DNAI1 CAV1 ESCO2 SRSF2 BACH2 TGFB1 LIG4 SEMA3E HAVCR2 MAP2K2 DNAAF4 RBCK1 NLRC4 B9D1 LPIN2 ADAR CYBC1 ALDOA ASXL1 ALG14 ARPC1B DNAH11 CD3E CD70 CYBA PNP REST IDUA AKT2 ASAH1 CCBE1 POT1 ZAP70 GATA2 PSMB9 RHAG RARB MGMT RIPK1 LCAT IL12A-AS1 PIK3CA MNS1 NAGLU CEP290 ZIC3 PLEKHM1 CBL CFC1 JMJD1C HSD3B7 FGG SLC7A7 SPAG1 TP53 ADAMTS3 CD28 TPP2 RSPRY1 HBA1 TMEM231 DGUOK CDKN2C GINS1 WAS MPL HYDIN TERT DZIP1L USB1 ABCA1 CC2D2A MMUT PSMB4 AK2 TREX1 CD247 GALK1 PRDM16 DRC1 NEU1 SH2D1A IL2RA TFAP2A TPI1 PIGM CENPF UNG TWIST1 TINF2 ELANE KRAS UNC13D ARVCF WDPCP RNU4ATAC ATM RINT1 NUMA1 HJV ADA2 RPGRIP1L SLC2A1 TALDO1 FIP1L1 KLRC4 ANTXR2 MYCN DNAJB13 TERF2IP MCM4 NBEAL2 POLR1D CA2 GNE NPC1 IFNGR1 RSPH3 BIRC3 CLCN7 SAMD9L UMPS IRF2BP2 DPM1 RBM8A ICOS RNASEH2B STAT1 GCLC IFIH1 CASK RSPH4A IL2RG TBX1 STAT5B SAMHD1 NCKAP1L RPGRIP1 HFE CDKN2B RAB27A HBA2 B2M CPLX1 SEC24C GALE PTPRC PSMB8 PTPN22 OTULIN CD81 PML CCNO COX4I2 BCOR PRKCD KIF3B PALLD SLC17A5 NEK10 CCDC65 WWOX FRAS1 SOS2 CHD7 RSPH1 GAS2L2 STXBP2 SNX14 EIF2AK4 INPP5E NGLY1 DNAL1 DAXX G6PD KLF1 ATP6V1B2 RMRP CTSK PHKG2 DYNC2LI1 DNAI2 HRAS SGSH SETBP1 XRCC4 MS4A1 FAH TRIP13 NLRP1 RASGRP1 AIRE BRAF DNAH1 IL12A CCDC47 FAM111A GAA CTC1 NFKB1 RNASEH2C MRAS OFD1 APOC2 DNAAF3 MEGF8 TP63 POLR1C TMEM216 DNAAF5 PTEN BPGM GNPTAB ABCB11 NOTCH1 TERC PEX7 MIF F5 FAT4 COG5 FOXE1 WNT3 LETM1 ACVR2B BCL2 GBE1 GPC4 IFNG MYC AKR1D1 ACD OSTM1 KCNN3 KCNAB2 ORAI1 SCNN1B RSPH9 BTD NPM1 NCF1 MAN2B1 BTK IL1RN CDC42 GPD1 ARMC4 PPARG CD27 PKHD1 CDKN2A JAK1 CD40LG KCNN4 NOTCH2 CTSA GABRD TNFRSF13B TRAC MC1R ATP7B TNFRSF4 KPTN SMAD4 TCF4 PIK3C2A FOXP3 VANGL2 SCYL1 FOXP1 IL6 RPGR LYZ CASP8 ZBTB16 SCNN1A SPP1 ALMS1 NRAS RASA2 COG6 BAP1 AP3D1 BSCL2 VPS33A PDGFRA HEXB HYLS1 IL10 CFAP410 GPIHBP1 RREB1 ABCB4 ABCD3 CFAP298 HIRA ERBB3 NF1 STK36 CDAN1 IDH1 ATP6AP1 SLCO2A1 A2ML1 CASP10 RAF1 NSMCE3 FGA SOX10 COG1 NLRP12 H19 SKI MPIG6B MMP21 UROS POU6F2 SF3B1 TGFBR2 HAMP STX11 ALG1 WRAP53 FOXJ1 NHP2 DHCR24 DLK1 MST1 GYPC CFAP300 MTHFR DNAH5 SEC23B MYRF RASA1 IL2RB PALB2 CCDC40 GPC1 IARS1 LRRC56 SAMD9 PTPN11 SLC39A4 MYD88 CFAP221 AP3B1 MPI MEG3 WDR1 MEN1 B9D2 LRBA PARN BMP2 RTL1 GPR35 GNS TTC12 TLR4 SH3BP2 RNF168 CTBP1 ALAS2 BCL6 FGFRL1 DOLK GFI1B G6PC3 PIK3R1 CSPP1 AGPAT2 TCOF1 HGSNAT ALPK1 LZTR1 MCIDAS STING1 PHYH COG2 IDH2 CARD11 ARSB ITK PTH1R HP_LYMPHANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIOMA IDH1 PTEN FAT4 IDH2 CCBE1 ADAMTS3 COL18A1 AKT1 PTH1R HP_ABNORMALITY_OF_THE_TONSILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONSILS IDUA AKT2 ELANE SEC24C DCLRE1C TBX1 BTK RSPRY1 SCNN1A CYBC1 GP1BB ARVCF RREB1 RIPK1 ABCA1 IL2RG COMT UFD1 IL2RA HIRA JMJD1C IDS SCNN1G BLM SCNN1B CD40LG ADA HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY TSC1 FAT4 SOX18 IFNG CCBE1 ADAMTS3 TSC2 FOXF1 FLT4 PIEZO1 RASA1 HRAS MPI HP_ABNORMAL_PLACENTA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTA_MORPHOLOGY CFH RTL1 HMGA2 CFI ZMPSTE24 IGF1 CD46 MEG3 PLAG1 DLK1 CORIN TP53 CDKN2A PHGDH LMNA MKS1 HYMAI TTC37 IGF2 MUSK CDKN1C MDM2 HELLPAR STOX1 CHEK2 FLT1 PLAGL1 HP_SYNOVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOVITIS NOD2 LPIN2 MAP2K1 BRAF F8 POLR3A PTPN11 HP_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROSTOSIS MAN2B1 IDUA GJA1 AMER1 LRP5 VCP RPS6KA3 GALNT3 PIK3CA ERCC3 SOST PTDSS1 TCIRG1 ERCC2 ALMS1 ABCC9 WIPF1 SLC39A14 LRP4 SLCO2A1 WAS XPC DDB2 TNFRSF11B MAP2K1 TBXAS1 PHEX THOC2 FGFR1 TONSL KRAS COL1A1 XPA ERCC5 GNAS HNRNPA2B1 FLNA NOTCH3 TNFRSF11A LEMD3 SMAD4 GJB6 PTEN COX4I2 PRKAR1A CA2 ERCC4 SLC29A3 ANKH AKT1 GNAQ TGFB1 HNRNPA1 TNFSF11 HP_RECURRENT_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PHARYNGITIS NFKB2 XIAP SLC29A3 SH2D1A PTPN22 TNFRSF1A HP_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXOSTOSES ALX4 B3GALT6 EXT1 EXT2 PTPN11 CHRNG EXOC6B COL11A2 LMX1B ATP7A COL2A1 TRPS1 PTEN PHF21A SHOX ACAN RAD21 IDH2 AKT1 MSX2 IDH1 HP_UROGENITAL_SINUS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_SINUS_ANOMALY CHRM3 WT1 CYP11A1 SOX9 HSD3B2 NR5A1 ZFPM2 SRY SRD5A2 POR DHX37 GATA4 MKKS PPP1R12A NR0B1 MAP3K1 CYP11B1 VAMP7 NR2F2 DMRT3 WWOX HP_CONJUNCTIVAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUNCTIVAL_HAMARTOMA KRT10 PTEN SDHB AKT1 KLLN SDHD SDHC SEC23B USF3 PIK3CA KRT1 HP_ABNORMALITY_OF_THE_SACROILIAC_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SACROILIAC_JOINT HLA-B DMP1 FGFR3 ENPP1 TWIST2 PHEX TNFRSF1A HP_BREAST_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_APLASIA TP63 CDC6 CDC45 KCTD1 IKBKG ORC1 PLXND1 TBX3 LMNA ORC6 DYRK1A CDT1 REV3L TWIST2 ORC4 GMNN HP_PERIPHERAL_ARTERIOVENOUS_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA ACVRL1 COL3A1 SMAD4 RASA1 GDF2 ENG AGGF1 EPHB4 HP_INSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSOMNIA ABCB4 HTT BAZ1B CLIP2 LIMK1 PRNP ATP8B1 PINK1 ELN TBL2 VPS13C CPOX SLC12A3 CRY1 HMBS DCTN1 GALNT2 GTF2IRD1 UCHL1 HTRA2 GTF2I DNAJC6 NR1H4 ABCB11 SNCA PODXL SLC2A3 LRRK2 HLA-DRB1 PRKN CLCNKB SLC25A13 RFC2 HLA-DQB1 NAGS ZNF365 PARK7 MEN1 TUBB3 HCRT SYNJ1 FARS2 HP_HYPERSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSOMNIA NKX2-5 DUOXA2 TSHR DMPK DUOX2 FOXE1 TPO TDP2 AIP PAX8 IYD GPR101 SLC26A4 SLC5A5 NKX2-1 PRNP TG HP_PROSTATE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATE_NEOPLASM STAT6 RAD51D BMPR1A GREM1 KLF6 ZFHX3 PALB2 APC CHEK2 PTEN RNF43 BRIP1 TP53 RAD51 CDKN2A RNASEL RAD51C CDH1 NAB2 BRCA2 BARD1 MDM2 MXI1 NBN BRCA1 AR EPHB2 MRE11 MAD1L1 RAD50 HP_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERNIA ABL1 CLDN19 WDR35 CLIP2 AMHR2 PUF60 CDH11 SOX4 HES7 GPHN AMH NALCN TPO COL5A2 ELOVL4 ATP7A WNT5A AGA TBX1 ARFGEF2 KCNH1 SUZ12 ZFPM2 ARID2 PRKG1 FARSB BRCA1 BCOR TTC37 TENT5A SKI KCNA1 CHST14 CCDC22 MTOR GLRB GPC6 ELN MLXIPL COL1A2 SLC35C1 COL1A1 CREBBP PIGQ IDS ZBTB24 SIK1 FGFR1 GDF1 OCRL HDAC8 SEC24C ADAMTS2 SLC29A3 MEG3 COX7B RIC1 ATP6V1A PLD1 NEU1 GTF2I SETBP1 CBS NSDHL PIK3R1 NDUFB11 SMAD3 FANCM LHX4 DSE HYMAI FBLN5 SLC26A2 LMOD1 KCNJ8 BRAT1 WT1 RPS26 DLK1 FIBP FUCA1 KIF7 NFIA NPHP3 AP1S2 ALDH18A1 FBN1 MYLK B3GLCT BRF1 SRCAP TBL2 DGCR8 BMPER TMEM67 AUTS2 GPC3 PIK3CA WNT4 INPP5E GLB1 XRCC2 GP1BB GLRA1 SPECC1L SLC25A22 SMC1A NXN NELFA ZFP57 DYNC2H1 DYNC2I2 MASP1 COL3A1 SKIV2L SATB2 GUSB PTDSS1 LIMK1 TRAF7 MFAP5 WDR4 SHPK MPLKIP RNF13 LDHD P3H1 MBTPS2 HSPG2 SCN1B SMARCA2 FTO SNIP1 CDKN1C TGFB2 NFIX GMNN LBR WDR73 NOTCH2 COL5A1 DHCR7 FZD2 RPS28 RAD51 CDKL5 DVL3 SMC3 EFEMP2 SLC5A5 SEMA5A MEGF8 CHRNG DPH1 PYCR1 RPGRIP1L RTL1 PLOD2 HCCS MAT2A MN1 IGF2 GNPTAB DPF2 YWHAE NOTCH1 SIN3A ELMO2 PRDM5 LETM1 TGDS DNMT3A FANCD2 COMT TSHR RLIM FLNA BHLHA9 EED MESP2 EHMT1 GPC4 CD96 MED25 SMCHD1 SHANK3 NAA10 GLIS3 CRKL DIS3L2 TMEM107 NKX2-5 B3GAT3 NLRP3 PIGS NECTIN1 SMARCD1 SCN2A IRF6 RPL10 TWIST2 CTCF RAB23 TP53RK MAPK1 RIPPLY2 DMXL2 TRAIP PAFAH1B1 ERCC4 ERCC2 ANTXR1 AR SLC6A5 DGCR2 EFNB1 ATAD1 TRHR DLL3 GNAO1 IDUA GTF2H5 LTBP4 SLC25A24 PCNA MAN2B1 PIGY FGD1 KCNQ1OT1 CDC42 AEBP1 PIEZO2 H19 OSGEP HESX1 COLEC11 NSD1 DVL1 NOTCH3 LHX3 GJA1 TTC7A FANCC KMT2C FLNB KMT2D ARID1A GORAB PPP2R1A TGFB3 TGFBR1 LOX GATA4 FREM2 PBX1 IFT80 STRA6 ABCC8 STXBP1 UBE2T GATA6 PLAGL1 SMARCC2 ZEB1 C1R SLC10A7 NAT8L C1S ATP6V1E1 ATP6V0A2 MECP2 MAD2L2 KNSTRN MEIS2 PTCH1 RAD21 PPP1R12A FBXW11 SMARCB1 FRAS1 ACTG2 PACS1 TMCO1 SEC31A VANGL2 COLEC10 TBX3 GLI3 TCF4 CTNND2 COL2A1 RNF113A TSHB TGFBR2 DGCR6 TP63 KIAA0586 MKS1 CEP120 KDM6A SH3PXD2B TMEM70 SH2B1 PIGN UFD1 ARID1B FOXF1 ASXL1 ACTA2 BSCL2 SLX4 AMER1 VPS33A SMAD4 POLR2A TG KDM3B FANCB NUP133 THRA TNXB SOX6 DUOX2 GTF2E2 ARF1 HYLS1 GTF2IRD1 DNAJC21 POGZ NEK9 NSD2 ESS2 BMP1 RREB1 DNMT3B IKBKG TPRKB TRRAP COL11A2 RFC2 PALB2 MYH11 TMTC3 WDR19 HIRA SEMA3E RPS6KA3 TUBB EOGT PNKP EZH2 PAX8 BCR BCL11B PIK3CD KDM5B FANCI LRP2 WASHC5 ALG9 COL11A1 MYH3 SMARCE1 MED12 SETD5 CHD7 SMARCA4 RAD51C ABCD4 CHUK SLC2A10 MCTP2 FOXE3 DUOXA2 GAD1 SETD2 ATRX IFT81 FANCE CHST3 POU1F1 NEUROD2 ZNF469 OFD1 RARB FREM1 RIN2 ROR2 MAF GRIP1 ZIC3 IRX5 MAP1B JMJD1C STAG2 PROP1 PPP2CA ERGIC1 RAC1 CC2D2A MTHFR NIPBL ERCC3 DACT1 ABCC9 FGFR2 CUL4B UBA1 RSPO2 MMP2 PIGP IYD TRIM8 BRIP1 PORCN DDX6 GALNS SOX11 FKBP14 SUFU APC2 TRIP11 CCBE1 KMT2A LONP1 CLCN4 NEDD4L TARS1 ADAT3 DYNC2I1 FANCF CDCA7 MMP14 HMGA2 PHGDH ERMARD MED13L ARX XRCC4 ODC1 ARVCF MSX1 BRCA2 HOXD13 KCNJ11 FLI1 SERPINH1 LAGE3 HDAC4 ADNP ISL1 TOR1A CASK DYRK1A AGPAT2 PLOD1 PPP2R3C BAZ1B TASP1 FANCL PLAG1 HGSNAT KCNQ1 SALL1 RFWD3 FANCG FANCA GNE LFNG KLHL7 MAPRE2 NUP107 ARSB NR2F2 HELLS HIC1 HP_ACANTHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOLYSIS DSG1 DSP ATP2C1 JUP ATP2A2 HLA-B IKZF1 KRT2 HP_ORCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORCHITIS MEFV HLA-B IL12A-AS1 ERAP1 TLR4 KLRC4 IL23R IL10 UBAC2 C4A TNFRSF1A FAS IL12A CCR1 STAT4 HP_TOENAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOENAIL_DYSPLASIA TAF1 FLT4 SOX18 TBC1D24 VEGFC GJC2 TP63 EVC EOGT SHANK3 BMP2 EVC2 BHLHA9 HP_FINGERNAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERNAIL_DYSPLASIA ROR2 LRP4 GJA1 NXN TFAP2A KRT17 KRT6B FZD2 SOST TP63 IL11RA DVL3 KRT6A DVL1 WNT5A KRT16 HP_NEOPLASM_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_MIDDLE_EAR APC2 NSD1 SETD2 SIX1 DDR2 EYA1 HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION ADAM17 KRT17 TSC1 KIF1A TSC2 KRT6B RETREG1 SLC39A4 STAT3 LAMC2 BLM NFKB2 LAMA3 KRT6A WNK1 LAMB3 SCN9A KRT16 HP_SEPSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPSIS CHD7 ALOXE3 IL7R CYBC1 LIG4 ELANE MMUT RNF13 IGHM CXCR4 BTK SULT2B1 FOXP3 ITGB4 RAG2 LAMB3 EFL1 WIPF1 CTLA4 ATP7A CYBB NRTN CD27 NIPAL4 TCF3 RAC2 G6PC3 WAS EDNRB COX8A CYBA AK2 PLEC RAG1 SBDS COG4 RMRP TGM1 LAMC2 VPS33A IGLL1 APC CD40LG ADA NCF1 BLNK HLA-B SEMA3D SRP54 SFTPC GALT LRRC8A SAMD9 ECE1 ALOX12B TFRC SERAC1 LIPN ABCA3 NCF2 MYD88 LAMA3 TREX1 HYOU1 PIK3R1 PGM3 GDNF DNAJC21 MNX1 EDN3 CTCF FERMT3 LMOD1 SFTPB SEMA3C CD79B MYH11 IL2RG LRBA MYLK RET CTNNB1 ABCA12 CD79A MRTFA NFKB2 NCF4 ACTG2 CYP4F22 IKZF1 SDR9C7 DCLRE1C HP_LONG_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FINGERS ABL1 BNC1 KDM1A NFIX UNC80 PUF60 RPS6KA3 NUP107 TCF4 FSHR YY1 FGFR3 MED12 FBN2 TBX1 ATRX TGFBR2 TP53RK ACSL4 PRKG1 ABCC9 PHF21A LARS1 PIGV MYMK KMT2A USP9X COL11A1 SKI CHST14 ASXL3 UFD1 TUBB MAPRE2 AMMECR1 ZNHIT3 MAPK1 ACTA2 AMER1 FBXO11 KANSL1 NR5A1 TGFBR1 SMAD4 FARSA NALCN B3GALT6 PIEZO2 PYCR2 SEC24C FLNA RPL10 SETD1B SOX6 B4GALT7 PSMB8 PAX1 CBS ASXL1 SMAD3 NSD2 CNOT1 VPS13B DSE BMP1 RREB1 POR MAGEL2 ELN MYH11 FGFR2 NPR2 HIRA PTCH2 ALG3 SLC25A46 SPEG POLR3H GATAD2B GATA2 SPIDR ADAMTSL1 XYLT2 FBN1 MYLK NKAP DYRK1A BCR KIF1A TELO2 BRF1 OTUD6B TBR1 ALG14 RNF13 NARS1 PUM1 TNNT3 GPR101 WNK1 GP1BB ZMIZ1 PIGN NELFA PHF6 TCF20 SON CNOT3 RUSC2 KCNE5 MYOD1 MED12L UPF3B NR2F1 PTRH2 SLC2A10 HDAC8 SUFU PLAA TRIO VAC14 RYR1 SATB2 MFAP5 SIM1 MTM1 SMARCAD1 CYP26B1 ZNF469 COL1A2 SNIP1 OFD1 KDSR TGFB2 MAF KDM5C SMS HUWE1 LAGE3 HIVEP2 IRX5 JMJD1C EBP MAP1B CHD4 KIF7 RAB11B PHIP KIFBP CHRNG SH2B1 MAT2A PSMC3IP AIP PIGB SCARF2 CRLF1 TTN PMM2 SIN3A PRDM5 LETM1 TMEM94 COMT SMC1A POLR3A CCNK STUB1 COL3A1 EFEMP2 COL2A1 EED DDX6 PQBP1 SCN9A PTCH1 CRKL LAS1L FIG4 CTSC PEPD ZEB2 SVBP HERC1 FOXE3 SOX5 EXOC6B TGFB3 ACTG2 DLX5 EHMT1 GJB3 WASF1 TWIST1 RUNX2 UBE3B EIF2S3 PCGF2 GJA1 IARS2 COL12A1 CDC42 AEBP1 CDKL5 ODC1 ARVCF OSGEP ZDHHC9 NSDHL BMP15 DOCK3 KMT2C MAP3K7 SMARCE1 CPT2 PLOD1 GJB4 TBX4 FBLN5 DLG4 SLC12A6 LOX GATA4 SLC39A13 BCORL1 SPOP RETREG1 KMT2E MRPS22 C1R ARX EBF3 CNTN1 TRAPPC9 INPPL1 BIN1 ECE1 HP_APLASIA_HYPOPLASIA_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_COLON ZMPSTE24 MYH11 MYLK ACTG2 GATA6 LMNA SOX10 GUCY2C LMOD1 HP_HALITOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALITOSIS SCNN1A CFTR SCNN1B SCNN1G MAT1A SELENBP1 HP_BLUE_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_NEVUS PRKAR1A PUS3 TASP1 TYRP1 ARL6IP6 HP_RENOVASCULAR_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENOVASCULAR_HYPERTENSION BAZ1B STAT1 CLIP2 LIMK1 ELN RFC2 TBL2 COL3A1 FIG4 GTF2IRD1 GTF2I XYLT1 NF1 XYLT2 YY1AP1 ABCC6 VAC14 HP_LONG_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_THORAX TRPV4 PRKACB PCGF2 BCOR INTU PRKACA NAA10 KAT6A HP_INTESTINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_FISTULA JAK3 KDM6A SALL4 UBR1 IL10RB DACT1 SALL1 RECQL4 POLR1C SPINT2 TGFB1 MNX1 PIGN CCNQ POLR1D LONP1 CDK8 KMT2D B3GLCT FREM1 KIF7 MKKS TCTN3 TCOF1 HP_GLOMERULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULOPATHY LPIN2 MEFV OCRL HLA-B LMX1B MT-TK APOE ERAP1 MT-TL1 TLR4 KLRC4 IL23R DNASE1L3 IL10 FAS FN1 GLA MT-TE IL12A LMNA HLA-DPB1 AMMECR1 ACSL4 PTPN22 WIPF1 HLA-DPA1 PRTN3 LMNB2 WAS IL12A-AS1 KCNE5 HNF1B MMACHC FOXC2 SMARCAL1 SCARB2 MTRR UBAC2 C4A ELP1 CCR1 HNF4A CTLA4 WT1 STAT4 HP_CHEILITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEILITIS CLEC7A OCRL IL17F KRT17 KRT6B MBTPS2 IL17RA SLC39A4 IL17RC BLM SREBF1 SLC46A1 KRT6A CAST TRAF3IP2 KRT16 FERMT1 HP_LYMPHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOCYTOSIS ZAP70 NRAS RNASEH2B IL7R FAS LMNB2 PRKCD NCKAP1L BTNL2 SH2D1A KRAS RASGRP1 ARPC1B HLA-DRB1 XIAP CASP10 CARD11 FASLG HP_GALACTORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GALACTORRHEA MEN1 PRLR CDKN2C CDKN1B CDKN1A CDKN2B AIP CDH23 GPR101 HP_ROUND_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_EAR NALCN ERF MYH3 TPM2 TNNI2 TNNT3 HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM MST1 DZIP1L TJP2 TCF4 EFL1 GPR35 SBDS DNAJC21 PKHD1 BAAT EPHX1 SRP54 HP_NEOPLASM_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SMALL_INTESTINE SDHA BMPR1A GREM1 SDHD APC MLH1 MSH2 KIT NTHL1 LMNA SDHC SMAD4 STK11 SDHB PDGFRA WRN HP_NEOPLASM_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARGE_INTESTINE BMPR1A MST1 POLE TP53 MSH6 APC MLH1 BUB1B PDGFRL AXIN2 PRKAR1A PMS1 CDKN2A POLD1 TGFBR2 PMS2 KRAS TSR2 AKT1 CTNNB1 PALB2 FOXE1 MSH2 RPS17 MINPP1 RPL11 SDHB SEC23B COL14A1 RPS19 PTPRJ PIK3CA BUB1 GREM1 BUB3 FAN1 SMAD4 FLCN DLC1 DOCK8 USF3 ADA2 RPL35A RPS10 KLLN RPL35 RPL15 RPS7 ENG PALLD KIT RPL31 CEP57 SDHC GPR35 MUTYH EPCAM NRAS MLH3 MCC KEAP1 DMPK NTHL1 BRCA1 AURKA CCND1 RNF43 RPS24 GATA1 DCC RPL26 SDHD RPS26 RPS28 BAX CHEK2 RPS29 RPL18 HABP2 FGFR3 DICER1 RPS20 TRIP13 SRC STK11 SMAD7 RPL5 PTEN PLA2G2A SDHA RAD54B SH3KBP1 AAGAB BRCA2 MDM2 TLR2 RPS27 MSH3 PTPN12 SEMA4A RPS15A EP300 BLM TCF4 PDGFRA RPL27 HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM SDHD NF2 PDGFB TRAF7 TERT GLI3 CDKN1A ADAMTS3 SMARCE1 KRIT1 TGFBR2 NTHL1 FGFR1 PMS2 RET SIX6 SUFU KRAS GCDH TMEM216 CDKN2C TSC2 GNAS VHL SEC23B TP53 ALX3 PIK3CA NRAS PDCD10 KIF7 AKT1 TMEM127 OCRL IFNG FAN1 CDKN2B BMPR1A SDHAF2 FAM149B1 FH CREBBP PTEN USF3 MEN1 CPLANE1 KLLN MSH6 WRN WDPCP PDE6D SDHB EP300 SMO BAP1 MLH1 SDHC NOTCH3 OFD1 SMARCB1 EPCAM TSC1 MLH3 ZSWIM6 CCND1 CDKN1B MAX ARMC5 KIAA0753 MDH2 ALX1 PMS1 MN1 FAT4 CHEK2 SOX2 NF1 DLST SDHA CCBE1 LMNA SLC25A11 RPS20 PDGFRB CCM2 TCTN3 SEMA4A MSH2 KIF1B HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM APC CDKN1A NBN CDKN2A C11orf95 ASCL1 TGFBR2 PMS2 RUNX1 KRAS CDKN2C TSC2 TUBB PHOX2B GDNF NF1 GPC4 SMARCB1 BRCA2 IFNG FAN1 CDKN2B BDNF APC2 MSH2 SETBP1 MEN1 KCNAB2 PRDM16 MSH6 TP53 POT1 EDN3 SMO PTCH1 MLH1 BRAF PTPN11 EPCAM GPC3 NF2 DICER1 TSC1 MLH3 PALB2 KEAP1 CDKN1B PIK3CA RET RELA SDHB PMS1 NSD1 SUFU CHEK2 LRP5 SKI IDH2 NUTM1 IDH1 GABRD SETD2 PTCH2 KIF1B BRD4 RPS20 MYO1H RAF1 MSH3 ERBB2 CTNNB1 MDM2 SEMA4A BMPR1A MAPRE2 YY1 RERE HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION CTSC PSENEN CARMIL2 UBE2A PSEN1 BTK HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW TP63 KDM1A KDM6A TBX3 IL7R CDH3 SNRPE SULT2B1 AEBP1 RMRP LIPH LMNA KRT25 TWIST2 SPINK5 NAA10 EPS8L3 NECTIN4 MEIS2 HR TGM1 TRPS1 RIPK4 LIG4 ALOX12B NUP188 B4GALT7 MEGF8 KRAS GTPBP2 DNAJC21 KIFBP HBA2 RNU4ATAC ZMPSTE24 HNRNPK HEPHL1 IL2RG CLDN1 ITGA3 LSS GJB2 COL11A1 NECTIN1 KRT74 CYP4F22 FRAS1 CHD7 BRF1 SOX18 EDAR DPH1 MAN1B1 ALX1 ALX4 RAG2 NIPAL4 SON STAG1 MED12L KMT2D WDR26 SHOC2 ADA APCDD1 BCL11B VAC14 GAD1 EDNRA DSC3 ANAPC1 MBTPS2 BRAF KRT71 GJB6 NFIB PURA CHST3 JUP LPAR6 SMS COL3A1 ODC1 KRT17 IRX5 RPS28 CRIPT YY1 COG6 MAP2K2 EDARADD STAG2 LARP7 PEX6 ALOXE3 RECQL4 KRT85 GNPTAB LZTR1 DSG4 SF3B4 TBCD RAG1 POLR3A DLX4 WNT10A RPL21 PCNT CCNK CDC45 MED25 SMARCA2 UROS WNT10B EDA EBP LIPN FIG4 SOS2 ST14 HECW2 KANK2 SOS1 PQBP1 HERC1 MAP2K1 HBA1 WDR35 DCAF17 PPP1CB ANTXR1 PIGK AHSG MTX2 TTC7A BANF1 UBE3B NSUN2 PRRX1 ATAD3A KREMEN1 NF1 CDC42 DSP MESD KAT6A FLI1 LRP1 DOLK HDAC4 PPP2R3C EDA2R SPOP PEX1 ITGB6 OTX2 CWC27 ABCA12 RIN2 TMCO1 SDR9C7 DCLRE1C HP_SEPTO_OPTIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTO_OPTIC_DYSPLASIA WDR11 HESX1 LHX4 GPR161 FOXA2 ROBO1 OTX2 WNT3 PROP1 SOX3 STAG2 FGFR1 POU1F1 GLI2 RSPO2 PROKR2 SOX2 LHX3 ARNT2 CDON HP_ANAPHYLACTIC_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAPHYLACTIC_SHOCK SRSF2 TET2 ASXL1 RUNX1 CBL HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA MRAP KEAP1 WT1 STK11 DICER1 SOX9 STS NR5A1 ZFPM2 PRKAR1A SRY CDC73 CDKN2A IGF2 FLI1 STAR PTEN NNT DHX37 GATA4 CDKN1B TP53 TXNRD2 EWSR1 MDM2 AR MC2R NR0B1 CHEK2 KANSL1 MAP3K1 VAMP7 DMRT3 AKT1 WWOX HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR JRK RNASEH2B GRIA3 NODAL NFIX VPS13C IFIH1 WDR62 SQSTM1 PAK3 ATXN10 KMT2C TMEM240 UCHL1 GCSH AP1S2 SHANK3 SLC9A6 PMS2 SLC6A17 ACOX1 KRAS SPATA5 KMT2A SAMHD1 PAH DISP1 SASS6 KCNA1 DPYD HDC GRIN1 HNRNPH2 FUS THOC2 ATP13A2 HIBCH VCP SIX3 AFF2 TREM2 PIGQ MBD5 ZMYND11 POGZ STAT4 SMARCB1 SIK1 MAGEL2 PRF1 MAN1B1 PINK1 IQSEC1 OCRL FRMPD4 SNRPN GRN IL23R TAOK1 FMR1 CACNB4 DHCR7 MYT1L HFE GABRD WARS2 MECP2 SLC25A13 NDN MSH6 ANK3 GNAS VPS13A ASH1L PRRT2 EP300 NACC1 CLTCL1 SPR SLC1A2 SMC1A CEP85L BPTF EPCAM CUX2 CLCN2 SHH MLH3 ASS1 DCTN1 CHD2 CHMP2B DEAF1 DGCR8 FBP1 QDPR SLC2A1 GALC HTR2A SLC25A22 TBK1 TIMM50 BRSK2 INPP5E DYNC1I2 RUSC2 TCF4 SDHAF1 UBAC2 PYCR2 CREBBP SDHA SLC6A4 CARS1 ABCA2 SLITRK1 MAPT WDR26 CDON AVPR2 TTI2 TRIO SATB2 SHMT2 PTCH1 CNTNAP2 DLL1 ASL HERC2 AVP NHLRC2 GRM7 GAS1 GRIN2A SCN1B IL12A KANSL1 GJB2 CDH15 UBE2A NFASC LINS1 NFIB HSD17B10 HLCS IQSEC2 NOTCH3 GAMT PANK2 RNASEH2C ODC1 DCHS1 KIF1A LRRK2 C4A DOCK8 NDP CAMTA1 UBTF PRNP CDKL5 MT-ATP6 GBA CPS1 ZIC2 MAB21L1 RAB11A RBBP8 RAB11B MED12L STXBP1 LARP7 HMGCL KDM5B TDGF1 PSEN1 TARDBP SLC6A8 USP7 SLC46A1 TKT EIF2S3 TYROBP HSPG2 GNAO1 TGIF1 SLC2A3 NAXD KCNQ3 CLTC USP9X DNMT3A AIP RLIM TSC2 SETD1A MADD PSAP CCR1 CLCN4 EHMT1 FDFT1 C9orf72 HIVEP2 MED25 ITPA UBA5 AUH RPL10 PPP3CA DYNC1H1 ENPP1 TRPM3 PTS SLC1A4 HLA-DQB1 NTNG2 PSMD12 GCH1 PIGL ZEB2 PRKAR1B HECW2 TREX1 DNAJC6 UBE3A SCN2A KCNAB2 PCDH19 AQP2 FGF8 SLC16A2 DMXL2 MED12 ZBTB20 PIGH DCX DGCR2 RORB NONO YIF1B ST3GAL5 GRIN2B SETD2 SLC25A20 KCNQ5 CAMK2A ERAP1 MAPK10 TMEM231 PIGY KIRREL3 PPT1 OCA2 DYRK1A HDAC8 SLC25A1 ABCC6 NSD1 LEPR NDUFAF4 EEF1A2 TBX1 DDX3X PUS3 METTL5 TBC1D23 SET GLI2 SLC19A3 C12orf4 VDR MEFV CIC GLRX5 HLA-B COQ2 COG4 FGFR1 CTNNB1 SLC25A19 NTRK1 DPAGT1 WAC PRKN NAT8L ATP7B SDHB KPTN PDE11A BMPR1A FBXW11 KIF11 RERE TMCO1 SPOP CLN8 RPS6KA3 SYN1 OTC NDST1 ECM1 FOXG1 MGAT2 SLC6A3 DGCR6 VPS35 DNAJC13 FLII ARID1B VPS53 CYP27B1 MAPK1 KIF15 DDC NALCN RAI1 KDM3B EFHC1 MAOA GABRA1 FAN1 AMT IL10 FAS AIFM1 ZSWIM6 TMEM106B ESS2 CSNK2B NAA10 CILK1 GM2A CACNG2 NAGS ST3GAL3 TRIP12 GABRB3 PCBD1 SYNJ1 SCN1A SEPSECS PNKP NKAP DNM1 KDM5C CAMK2B ADAR FIG4 USP8 NRXN1 RNF13 SRPX2 UNC80 ARG1 SPG21 ZMIZ1 SOX5 KNL1 GABBR2 BCAP31 CHCHD10 TCF20 CLP1 STAG2 SIM1 SMARCC2 ENTPD1 TH PRODH ALDH5A1 CDH2 PLA2G6 SKI LINGO1 ELP2 ATXN1 KCNT1 ASAH1 CNP ADAT3 EIF4G1 CYP2R1 EPB41L1 NEUROD2 SNCA DNMT1 VAMP2 IL12A-AS1 CEP152 NAGLU GLDC GRIA2 SYNGAP1 TUBB3 MSH2 FOXH1 ATP1A1 UQCC2 ADSL ALPL ACAT1 PHIP BCOR MANBA PACS1 NIPBL ABCC8 PYGL MIR17HG ABCA12 SDHD PODXL TGFBR2 SIN3A CUL4B STX16 HDAC4 NSDHL PIGP SH2B1 SCN11A TRIM8 PUS7 ATP10A EXOC8 SMARCA2 HBB ZFYVE26 NDE1 ATRX SLC6A1 HPRT1 SLC39A4 APC2 HTRA2 SVBP SUCLA2 PRDM16 TTC19 SPAST GRIA4 TCN2 MLH1 NDUFS1 ATP5F1A IMPA1 WASF1 PDGFB HTT UROC1 PTCHD1 FRRS1L ASPA SLC52A2 PPP2R5D DMPK PIK3CA GLS TLR4 PHGDH MED13L GABRG2 TMEM237 RNASEH2A GYS2 FGF14 PMS1 PRKAR1A AP2M1 TBP IBA57 TSC1 ADNP CASK SYT1 HEXA WDR45 ARX KLRC4 TASP1 GIGYF2 RPS20 CACNA1A KMT2E EBP CUX1 FOXP1 RTTN CHAMP1 JPH3 SEMA4A TK2 PARK7 SARS1 TP53 GATAD2B FAT4 CP HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR CLIP2 NODAL VPS13C PAK3 WFS1 PPP2R2B PPARGC1A UCHL1 TBX1 SGCE PMS2 VCP KRAS KMT2A PAH DISP1 HNRNPH2 THOC2 MT-ND1 MLXIPL SIX3 KANSL1 NTNG1 GABRG2 FBXW11 PINK1 OCRL HDAC8 SEC24C MYO7A FMR1 SPART GTF2I ACTL6A MECP2 MSTO1 MT-CO1 MSH6 WHRN GNAS VPS13A USH2A EP300 MEN1 SMC1A NKX2-1 BPTF ADCY5 EPCAM GABRA1 SHH MLH3 TBL2 MT-ND5 PDE10A DOCK3 DEAF1 PCDH19 GP1BB HTR2A WDR11 ADGRV1 OPTN MT-ND6 UBQLN2 CREBBP SLC6A4 CDON POLG2 LIMK1 GABRB3 PTCH1 SPECC1L DLL1 FIG4 SLC25A11 KCTD17 GAS1 MT-TL1 TCF20 NFASC NFIB CIB2 GABRD TANC2 NOTCH3 CCNF HIVEP2 PON2 PRNP PROK2 YY1 SMC3 ZIC2 DPH1 STAG2 LARP7 TDGF1 SPRY4 RRM2B IGF1R AIP HSPG2 STUB1 NFIX TREM2 TGIF1 SLC2A3 SLC6A19 KMT2E DNMT3A COMT RLIM PDZD7 TSC2 FA2H SETD1A VHL CLCN4 EHMT1 MT-TF PCDH15 KPTN FGFR1 TWNK GNA11 USP8 KISS1R C9orf72 MT-CO3 HLA-DQB1 PSMD12 GLA PRKAR1B TREX1 DNAJC6 PQBP1 TBK1 YWHAG FGF8 TAC3 FGF17 FUS SDHB SCN1B TOR1A ESPN TACR3 NONO GNRHR SETD2 NR3C1 HMBS XK MAX CHMP2B COL7A1 GABBR2 NSD1 TAF1 PARK7 ACSL4 MAN2B1 SDHC TMEM106B GLI2 RUNX1 DLST ERBB4 GALT ELN CDKL5 MMP1 MT-TW COQ2 ANOS1 HNRNPA1 WAC PRKN STXBP1 MT-ND4 ATP1A3 DCTN1 PDE11A SQSTM1 BMPR1A WDFY3 RAD21 SCN2A TMCO1 KIF1B PPOX SCN9A TET3 CPOX DUSP6 PHF21A UNC13A SOD1 CASR MYT1L EPAS1 UFD1 FLII HCN1 CHCHD10 GLT8D1 MAPK1 TRMT1 ACTL6B CLRN1 RAI1 NSMF DLAT FAN1 SETD1B ASH1L MED13 SDHAF2 GTF2IRD1 EPHA4 FH PROKR2 RREB1 DRD2 SRSF2 RFC2 SETD5 TET2 GRIN2A HIRA HARS1 MT-TS2 PFN1 SYNJ1 SDHD CDH23 PRRT2 DYRK1A JRK SNRPN ASXL1 DDX6 SRPX2 STX1B GPR101 USH1C GCH1 SOX5 NEK1 RIMS2 FOXP1 MED12L NAGS ALDH5A1 PON3 CDH2 BCL11B TARDBP PPM1D SDHA NEFH CHD7 NF1 IQSEC2 SNCA PURA MT-TH TAF15 DAO PDGFRB CBL JMJD1C MSH2 FOXH1 TLK2 ZMIZ1 PHIP USH1G VAPB MAPT MIR17HG PODXL TGFBR2 RET NDP LRRK2 STX16 GM2A GRN RNF125 CACNA1A CACNA1H TMEM127 ARID2 SVBP PRPH CEP78 APC2 HTRA2 MT-TQ NIPBL TTC19 SLC45A1 SCN1A GLE1 MATR3 MLH1 ANXA11 CLN3 PDGFB SLC2A1 HTT POLG PSEN1 SLC35C1 DMPK PIK3CA CHD8 HS6ST1 MDH2 ARVCF PMS1 CIZ1 PRKAR1A TSC1 ADNP FLT4 ATXN2 CFAP410 BCORL1 BAZ1B RPS20 PON1 GNRH1 JPH3 SEMA4A TP53 ARSG TRAPPC4 MT-CO2 KISS1 ANG SATB2 SLC25A4 HP_APLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_MUSCULATURE CHRNG TBX5 LMX1B MYMK TRPV4 REV3L PLXND1 TBX3 CHRNA1 CHRND HP_SHORT_ILIAC_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_ILIAC_BONES B3GALT6 DDRGK1 EXOC6B ACP5 WDR19 HP_DUODENAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_STENOSIS FANCB FANCL FANCI FANCE GATA1 STRA6 FANCM XRCC2 UBE2T RFWD3 BRCA1 BRCA2 FANCG RARB FANCA FANCD2 PALB2 MAD2L2 FANCC RAD51C ERCC4 SLX4 RAD51 CDC45 FOXF1 BRIP1 TTC7A FANCF HP_PALMAR_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_TELANGIECTASIA MST1 TCF4 GPR35 SOX18 LBR HP_ABNORMALITY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALM WDR35 UBR1 PUF60 SOX4 NALCN SMPD4 ATP7A XYLT1 PEX5 WNT5A IFT122 RMRP LONP1 FGFR3 ARID2 TPM2 GDF5 MTOR PIEZO2 THOC2 KRT10 TSEN15 SLC35C1 GJB2 KRT5 FGFR1 AKT1 B3GALT6 CPLX1 HDAC8 KRAS SEPSECS MEG3 YY1AP1 NSD2 ASXL1 GPX4 TNNI2 RNU4ATAC BCOR WDR37 PTCH2 NECTIN1 LAMB3 RPS23 B3GLCT TELO2 BRF1 LAMA3 FBN1 AUTS2 GPC3 IGF1 CEP55 SMC1A LMX1B DYNC2H1 TCF4 PEX6 HERC2 BMPR1B DYNC2I2 ATP6V1B2 IHH SNRPN ORC1 PLAA PWAR1 PEX19 TRIO HRAS SETBP1 VAC14 FGFR2 EVC SPECC1L FLG NLRP1 COL2A1 NUP88 SMARCAD1 PEX1 MSL3 BRAF GATA1 KANSL1 SMARCA2 KRT14 CTSB TRPS1 CKAP2L GJB6 SNIP1 KRT1 ADAMTSL2 LBR SOX18 FZD2 NPAP1 TGM1 PCYT1A YY1 MBD5 SMC3 SNORD116-1 RAB11B PEX2 DPH1 AIP DPF2 TGDS LETM1 FLNA DLX4 MKRN3 WNT10A SNORD115-1 AAAS PEX11B CD96 MED25 NDN RPL10 DYM PTCH1 CRKL IFT80 RBM10 PKDCC HDAC6 PIGS CTSC PEPD PIGL SLURP1 HPGD PDHA1 ITGB4 SMARCD1 DDX11 KCNN3 CTCF RIT1 KCNH1 MAPK1 MAP2K1 ATP2A2 IFT57 STXBP1 CAMK2G RECQL4 COL7A1 FGD1 FERMT1 CDKL5 DSP SLC25A24 PTEN TCF12 CSTA MAP3K7 KRT9 KCNJ2 FHL1 DVL1 EVC2 PERP WDR81 ARID1A B4GALT7 MUSK BMP4 TRIP11 KAT6B STAG1 LAMC2 AMACR SMARCC2 KDSR FGF9 DPAGT1 C1R AIFM1 TBL1XR1 TERT PTH1R RAD21 INPPL1 ASXL2 SMARCB1 PEX12 KRT6A CSGALNACT1 PACS1 RSPO1 APC MBTPS2 CHSY1 DOK7 PTDSS1 COX14 ZNF469 LTBP3 ATP6V0A2 NECTIN4 DOCK6 ARID1B MAPRE2 COG4 VPS33A TRPV3 DIS3L2 PIK3CA AAGAB NOG KCNK9 NUP188 ZNF462 DLK1 PKP1 VPS13B MAGEL2 HNRNPK PEX13 RAI1 VPS51 SEMA3E RPS6KA3 ADAMTSL1 COG6 COL9A2 RHBDF2 BCR ATR RAB3GAP2 IVNS1ABP TGM5 LIFR GPC4 DSE GPR101 COL11A1 SMARCE1 MED12 TSEN2 PEX10 SETD5 TBCE CHD7 FOXP1 SUFU SMARCA4 DVL3 SLC2A10 MCTP2 TSEN54 GLE1 KRT16 SMOC1 EHMT1 EXOC6B ANKRD11 SHOC2 MYOD1 CDK19 SMAD4 NAA10 OFD1 IGF1R ROR2 PLOD3 MYH3 KDM5C PRKAR1A KRT17 MRPS28 CHST14 INPP5K MAP1B CIB1 MAP2K2 MST1 ITCH PPP2CA PEX14 GJA1 NIPBL RSPRY1 CRLF1 SIL1 TWIST1 NBAS UBA1 SIN3A CUL4B CHST3 NXN EXTL3 PIK3R1 SOX11 PEX26 RTL1 FIG4 BGN CDK10 WAC CCBE1 PEX3 ESCO2 KMT2A TFAP2A PNPLA6 MTX2 GPR35 DYNC2I1 EXT1 KRT83 RAPSN PEX16 EP300 CTBP1 ATRX PWRN1 SDR9C7 FGFRL1 G6PC3 CREBBP HDAC4 ADNP TSEN34 SLC16A2 BHLHA9 PLOD1 SMS TBX4 PPP2R3C SLC18A3 TASP1 LMNA NGLY1 COL17A1 ADAMTS10 ANTXR2 SLC39A13 COL11A2 PORCN KRT6B TNNT3 RIN2 SERPINB7 PLEC ZC4H2 DPM1 UBE3B HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT RSPO1 GJA1 RECQL4 KRT5 GMPPA MBTPS2 AIP ZNF469 ABCC9 TRAPPC11 ATP6V0A2 FGFR2 MTOR WNT10A AAAS KRT10 USB1 KRT14 GJB2 TRPV3 PIK3CA AAGAB AKT1 PIGQ PLAA PTCH1 B4GALT7 KRT17 CTSC PIGL SLURP1 HPGD ASXL1 PKP1 ITGB4 KRT16 KCNN3 RIT1 KCNJ8 KCNH1 KRT1 HNRNPK ATP2A2 PTCH2 MTX2 COG6 NECTIN1 LAMB3 RHBDF2 KRT83 LAMA3 KRT6A PIGN TGM1 IVNS1ABP COL7A1 FERMT1 GPR101 EP300 ERCC6 DSP PTEN SDR9C7 KRT9 SUFU CREBBP PERP ATP6V1B2 PLOD1 HRAS NLRP1 ANAPC1 LAMC2 BRAF PLEC COL17A1 CTSB GJB6 KDSR C1R TBL1XR1 SOX18 TERT KRT6B SERPINB7 HP_THICK_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_HAIR NEK1 MSTO1 ATP6V1E1 ATP6V0A2 ATP6V1A SMC3 INSR CLDN1 ATP7A COG4 KLHL7 ASXL1 VPS33A AFF4 VPS13B KCNN3 HP_ENLARGED_OVARIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_OVARIES PTEN SDHB CYP17A1 KLLN SDHD HSD3B2 INSR CYP19A1 PRKAR1A STK11 AKT1 CYB5A FSHR SDHC SEC23B USF3 CYP11B1 PIK3CA POR ESR1 HP_ABNORMALITY_OF_GLOBE_LOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_LOCATION GRIA3 KDM1A NODAL PDHX PUF60 GJA5 CDH11 NDP NALCN ADGRG6 XYLT1 CHD3 PEX5 WNT5A AGA DHPS ATRX IFT122 PRMT7 QRICH1 SUZ12 MAP3K7 SHANK3 RB1 PRKG1 ABCC9 BRCA1 ACOX1 ZFPM2 TTC37 ERF SIX3 TCF3 DISP1 DPYD CCDC22 MTOR TUBB TBX1 THOC2 ELN PHACTR1 ARCN1 CREBBP CEP55 TGFBR1 FGFR1 ZBTB24 FGFR2 PAK1 LIG4 GJA8 B3GALT6 MAN1B1 TBC1D20 FAM20C PIK3R2 SLC29A3 GDF1 SPART KCTD1 KIFBP NSD2 NEB DHCR7 PIK3R1 ASXL1 SMAD3 FANCM NDE1 ADA2 DSE HYMAI THOC6 NSUN2 ACTL6A RNU4ATAC ITGA8 SEC23A KIAA0586 WDR37 FIBP FUCA1 KIF7 EP300 STAT3 MSTO1 OFD1 BPTF ALDH18A1 KCNH1 TMEM107 FGF10 PALB2 PDE4D EPG5 FBN1 TBR1 BRCC3 VSX1 ALG9 FAM111A GPC3 CDON COX7B DEAF1 CHRNA1 GATA4 ACTB PIK3CA ZMPSTE24 XRCC2 SOS1 GP1BB TBC1D24 WDR11 GAS1 NELFA TXNL4A MUSK RUSC2 TCF4 PEX6 MYOD1 SALL4 CPLX1 PYCR2 MKS1 COG4 CARS1 MASP1 NF1 BRAF KCNK4 SKIV2L TTI2 MSX2 VAC14 LRRC8A PTCH1 EVC SHPK DLL1 RELN AKT1 P3H1 HRAS GPAA1 MSL3 PTPN11 NFASC DHX37 TGFB2 EXT2 LBR SMS SPECC1L ATAD3A HUWE1 ODC1 WDR73 TCF12 RPS15A HPDL LRP4 DNMT3B RAD51 DVL3 SEMA5A CHRNG DPH1 PYCR1 CCND2 PAX3 SHH NOVA2 IGF1R MN1 RECQL4 MAF HSPG2 MOCS1 RSRC1 BPNT2 SIN3A ELMO2 PGAP2 PIGA TMEM216 LRP5 KMT2E FANCD2 COMT RLIM GPKOW HMGA2 DLX4 MARS2 RPL11 RPS19 KLF13 ALX3 MED25 POLD1 NAA10 CRKL UGDH TCTN2 RUNX2 EIF2AK3 SYNGAP1 FLCN TDGF1 NTNG2 WDR19 VANGL2 PIGL HECW2 ALX4 COA3 COL1A1 TNFRSF11A TMEM67 FGFR3 PEX2 RIT1 RPS10 TMEM138 PRTN3 MAP2K1 ACBD5 TWIST1 ZBTB20 C12orf57 B3GLCT PPP1CB GLI2 ERCC2 GBA PEPD TACR3 EFNB1 NONO IL1RAPL1 SIK3 GTF2H5 ZSWIM6 LTBP4 SLC25A24 RBM10 CANT1 PLEC TRAPPC9 ACTA1 TCIRG1 AKT3 NF2 HACE1 PIEZO2 HDAC8 FGF8 BMP2 ATXN3 HLA-DPA1 TAF1 KCNJ2 DVL1 RPS28 EVC2 NOTCH3 GJA1 TTC7A FANCC CHN1 FLNB DDX3X ATP6V1E1 PSMD12 IGLL1 B4GALT7 RRAS OPHN1 PPP2R1A TENM3 ZEB2 PDGFRB STAG1 FLNA SLC39A13 SPOP NTRK1 MYPN ZIC2 CIT ANTXR1 HNRNPK NRAS DCHS1 RPL5 TPM2 WAC TBCK ATP6V0A2 WDR35 MAD2L2 INTS8 AIFM1 ANKH FGF9 TBL1XR1 KIDINS220 KNSTRN CD79A WDFY3 MEIS2 PPP1R12A ASXL2 STIM1 SMARCD1 FRAS1 RERE TMCO1 POC1A LMNA KCNMA1 CACNA1G PGAP3 COLEC10 KRAS DOK7 COL2A1 CDH1 RNF113A ERCC6 PTDSS1 TGFBR2 COX14 RRAS2 PIGV FZD2 SIX2 APC MAFB MYT1L PIGN UFD1 RMRP MAPK1 SLX4 AMER1 TPM3 TRMT1 FBXO11 ACTL6B KAT8 RIPK4 FARSA SRCAP DIS3L2 LEMD3 POLR2A PLAGL1 ITCH FOXC1 ADK SOX6 ALG13 MED13 FAM149B1 RPL35A DNAJC21 POGZ CDK5RAP2 PROKR2 SMCHD1 TPRKB ESCO2 SEC24D TRRAP COL11A2 RPL15 TRIP12 ANK1 ITGA3 TGFB1 PDE6D ZBTB18 RAI1 AHDC1 GATAD2B SEMA3E RPS6KA3 MAP2K2 EZH2 NIN PRKAR1A B9D1 DYRK1A PPP3CA BCR KCNJ6 PIK3CD DDX6 MRAS KIAA0753 TSHR LRP2 WASHC5 FREM1 PRKDC ZMIZ1 KNL1 FLI1 PDGFB GATA1 NLRP3 MEF2C TBCE PSAT1 ZIC1 SON FOXP1 CNOT3 SUFU RET CNOT1 ABCD4 CDH2 PTRH2 SSR4 MCTP2 CAMK2A PTH1R SNAP29 INSR EHMT1 STRADA EXOC6B SHOC2 CCBE1 CDK13 EEF1A2 WDPCP FANCE CHST3 FGF3 TWIST2 CPLANE1 NKX2-5 GZF1 SATB2 KDM5C NKX2-6 GRIP1 GK CTU2 CEP290 ANKRD11 ZIC3 JMJD1C CDCA7 CBL STAG2 FOXH1 PTCH2 CRTAP SMO RPL27 PHIP PPP2CA FMR1 INTS1 ADAMTS3 RSPRY1 PITX2 XYLT2 IFT43 DDX59 LZTR1 TMEM231 QARS1 GATA6 ALX1 CRPPA EXTL3 GPT2 TBCD SLC2A10 GPC4 NFIX HYLS1 CASK GREB1L OGT PUS7 ASPM CC2D2A SVBP IGF2 LARP7 ACTG1 SH3BP2 POU1F1 SOST CDK10 ZC4H2 HERC1 FOXE3 KBTBD13 SLC26A2 PRDM16 PIGY RPS7 SLC45A1 TGFB3 TFAP2A MTX2 ALPL TARS1 NKX3-2 ADAT3 CENPF ABCA12 FANCF CENPJ PRKACB MYH3 CRB1 MED13L COL11A1 ALDH6A1 CHD7 ARVCF IFT52 GLI3 SLC39A14 SERPINH1 AVP COX8A HDAC4 RPGRIP1L AFF4 SLC16A2 POLR3A CSPP1 PIGO SMC1A GLB1 SLC18A3 NSD1 FANCL PHF6 WARS2 KCNQ1 NGLY1 KCNQ1OT1 HS6ST2 SH3PXD2B TCTN3 EBP TRIO OTX2 TGIF1 POLR1D HNRNPU GNRH1 GNE TFAP2B PIGU DCPS KLHL7 PCLO STAMBP CSNK2A1 PAH P4HB UMPS TRAPPC4 KISS1 DPM1 ABL1 PIGW FBXO31 HHAT RAC3 TRIP4 SMPD4 SPINT2 SMARCE1 KIAA1109 TP53RK AP1S2 PRPS1 FARSB TSR2 TRMT10A KMT2A SKI CHST14 RPGRIP1 HNRNPH2 CHRND CTNND1 MLXIPL SLC35C1 PPP2R5D FBXW11 OCRL SEC24C PSMB8 ATP6V1A SETBP1 HBA2 SLC35A1 PRUNE1 RAB3GAP1 SMARCB1 MYLK SOS2 TELO2 MIR140 DOCK3 BMPER AUTS2 TRIM37 FGF20 IGHM DNM1L ALKBH8 NXN POR DYNC1I2 GATA5 PPP1R15B HELLS MITF ATP6V1B2 CTSK MFAP5 WDR4 MPLKIP NUP88 ACY1 NTNG1 TCF20 CCDC47 KANSL1 SEPTIN9 UBE2A INTU ERCC1 CDKN1C NARS1 SOX9 PEX3 CAMTA1 CRIPT PROK2 LMBR1 TRAF7 SPRY4 MAT2A KLHL41 PIGB POLR1C PMM2 MRPS14 LETM1 FAT4 SPRED1 DNMT3A TMEM94 ASXL3 SETD1A ALG8 EED USB1 CDC45 SMG9 BNC2 COL3A1 BLNK GLE1 KISS1R PKDCC CHRNA7 ERMARD B3GAT3 KCNN3 CTCF COLEC11 KCNAB2 TAC3 HBA1 UBE3A KATNIP FGF17 ORAI1 ERCC4 TAZ FLT4 GNRHR GNPTAB HSD17B4 EXOSC2 COL1A2 KREMEN1 FGD1 CDC42 CDKL5 POLR1A PAFAH1B1 ERCC8 RPS24 OSGEP SLC9A6 DICER1 FBLN5 DPM2 RALGAPA1 SRC RPL18 CTLA4 NOTCH2 SLC12A6 LOX PIGG GABRD BCORL1 FREM2 ZMYND11 COG1 ANOS1 UBE2T RAPSN PTPN22 RAF1 PLK4 PARS2 RYR1 LRPPRC PTEN YWHAE INPPL1 KAT6B CNTN1 EXOSC9 NGF PACS1 CTNND2 GORAB TONSL CEP120 ALMS1 DUSP6 RASA2 SH2B1 CTBP1 DOCK6 FLII ARID1B MAPRE2 AP3D1 KIF15 ACTA2 MID1 MAPK8IP3 CKAP2L SMAD4 FANCB NUP133 RAB3GAP2 THRA NSMF JAG1 GTF2E2 MEGF8 BMPR1A PLCB3 SLC9A7 RREB1 MOCS2 TANC2 CD79B RPL35 MYH11 RPL31 HIRA BAP1 VPS51 GATA2 GSC PEX1 DDR2 MAN2B1 PHGDH BCL11B SNRPN A2ML1 FANCI COX5A ATN1 NSMCE3 MED12 PACS2 RPL26 CLP1 MED12L RAD51C USP9X MMP2 TGDS GAD1 COL27A1 CHSY1 SET IFT81 CDK19 IQSEC2 TBX2 ROR2 PLOD3 ALG1 AGL IRX5 DLK1 CHD4 TAPT1 TERT TBX15 NIPBL ERCC3 NBAS SRD5A3 EMC1 RPS17 VPS35L CCNK BRIP1 EFEMP2 BUB1B BGN LAS1L BRPF1 FIG4 SLC1A4 THRB MEG3 B9D2 RTL1 MTHFR CEP57 BANF1 WASF1 FAR1 CHD8 PRRX1 HS6ST1 PLP1 GALNT2 FH IARS2 TMEM237 XRCC4 AP4S1 SHROOM4 BRCA2 KAT6A FGFRL1 RPS26 RARS2 LAGE3 RPS29 TBX4 TCOF1 MYD88 TASP1 DPF2 IL11RA ADAMTS10 HLA-DPB1 RFWD3 FANCG RTTN FANCA RPS27 EBF3 NUP107 CITED2 ARNT2 UBE3B HP_ABNORMALITY_OF_GLOBE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_SIZE LRP5 SALL4 PUF60 FKRP NDP BUB1B FOXL2 FANCE ERCC3 CRYAA TBX1 NHS RB1 BRCA1 FGFR1 FOXE3 KCNJ1 BCOR FANCI RPGRIP1 TUBB EOGT LARGE1 NOTCH1 CEP55 GNAQ PAX6 TBC1D20 OCRL SEC24C BRIP1 RBPJ COX7B TBX15 NDUFB11 FANCM RSPO2 RPGRIP1L WDR37 FANCC TUBGCP4 SEMA3E B3GALNT2 MSTO1 FRAS1 TMEM107 MIR140 TBR1 FAM111A FREM1 PIK3CA ALX1 XRCC2 GP1BB ALKBH8 ARHGAP31 RBBP8 MITF ERCC5 MKS1 FBN1 ACTB C12orf57 POMT2 ERCC1 VAC14 CASK RAB18 RAB3GAP2 MPLKIP SALL1 VSX2 POMT1 INTU YAP1 RBP4 RAD51 MAB21L1 RAX DPYD HCCS POMK POLR1C TMEM216 NCAPG2 HDAC6 SIX6 PEX7 COL4A1 FANCD2 COMT WNT3 FUT8 SMG9 WDR73 ALX3 ASPH MED25 GMPPB SMCHD1 CTDP1 GJA1 GDF6 GLIS3 BUB3 TCTN2 ACTG1 B3GAT3 CRB1 BMP4 ZEB2 ALX4 PQBP1 PIK3R2 MBTPS2 PTCH1 GLI2 ERCC4 ERCC2 AKT1 SLC38A8 RECQL4 GTF2H5 RAB3GAP1 CYP1B1 ERCC8 SLC25A24 OSGEP FREM2 POMGNT1 DAG1 WDR26 MFRP TENM3 SOX2 FGFR2 TRIP13 STRA6 UBE2T ERCC6 PLK4 MAD2L2 TBL1XR1 FBXW11 KIF11 FANCG FKTN CPSF1 GLI3 CHSY1 RNF113A SMO COX14 CEP120 PIGV SH2B1 KCNJ6 CSPP1 DOCK6 PIGN UFD1 MAPRE2 SLX4 HMX1 TUBGCP6 TKFC RXYLT1 BUB1 RIPK4 FANCB HMGB3 PIEZO2 NUP188 GTF2E2 HYLS1 DONSON VPS13B VAX1 NAA10 RREB1 IKBKG POMGNT2 PTEN ESCO2 PALB2 SETD5 NRAS ATOH7 HIRA CRPPA ADAMTSL1 B9D1 ATR SYCE1 BEST1 SHH SMAD4 CHD7 CEP290 SUFU RAD51C FANCL SMOC1 CHST3 PHGDH GDF3 RARB RTTN GRIP1 RERE JMJD1C MT-CYB PTCH2 DLL4 INTS1 FANCA PXDN XYLT2 DOCK7 OTX2 PDE6D SIN3A TMEM98 MAB21L2 KIF7 TMEM231 VPS35L ALDH1A3 PRSS56 EBP PORCN CC2D2A LRPAP1 FIG4 B9D2 TFAP2A CEP57 TARS1 CENPF FANCF MED13L TMEM237 ALDH6A1 ARVCF BRCA2 DACT1 WDPCP RHOA TCOF1 TMEM67 TWIST1 PITX3 HRAS FGF3 ABCB6 SIX3 SH3PXD2B PAX2 RFWD3 KRAS KIF14 POLR1D PHYH ARX B4GAT1 HP_RECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_POLYPOSIS BMPR1A GREM1 SMAD4 ENG MUTYH HP_CONNECTIVE_TISSUE_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONNECTIVE_TISSUE_NEVI TSC1 LEMD3 TSC2 IFNG SLC25A24 PTEN HP_SCLEROSIS_OF_FINGER_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_FINGER_PHALANX GJA1 TRPS1 ERCC6 EIF2AK3 NGLY1 ERCC8 HP_OPEN_OPERCULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_OPERCULUM C2CD3 KIAA0586 GCDH CSPP1 FH HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY IFT43 PKHD1 NPHP1 NIPBL DYNC2I2 INVS DYNC2H1 TRIP11 LONP1 CEP164 TRAF3IP1 IFT172 SDCCAG8 TMEM216 XPNPEP3 IFT140 BSND NPHP4 ANKS6 TTC21B WDR19 DZIP1L MAPKBP1 TMEM67 ZNF423 JAG1 GLIS2 DHX16 PBX1 CEP290 CEP41 UMOD DYNC2LI1 CRB2 MUC1 PDHA1 FAN1 OSTM1 RPGRIP1L IQCB1 TMEM138 DYNC2I1 CEP83 NPHP3 CEP120 AP2S1 COQ7 IFT80 NEK8 DCDC2 AHI1 HP_NARROW_FORAMEN_OBTURATORIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FORAMEN_OBTURATORIUM HLA-DRB1 IRF5 CCR6 CAV1 KIAA0319L CCN2 HP_SHYNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHYNESS AP4B1 C12orf4 SETD2 POLA1 RLIM DPYD AP4E1 AP4S1 NONO AP4M1 HP_HYPERESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERESTHESIA PSAP UNC80 ATL1 GALC NF2 COL1A1 NTRK1 NALCN HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE BRF1 SNRPN FANCI OCA2 XRCC2 BRCA1 BRCA2 PWRN1 LMX1B NSDHL FANCD2 SIM1 HERC2 FANCC MKRN3 RAD51C KMT2C SNORD115-1 MAPK1 KIF15 SLX4 ATRX UBE2A NDN BRIP1 PWAR1 MAGEL2 FANCB PUF60 FANCL FANCE SYT1 FANCM UBE2T RFWD3 FANCG FANCA PALB2 MAD2L2 NPAP1 ERCC4 RAD51 STXBP1 CHD1 EHMT1 SNORD116-1 FANCF HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES KDM6A CLIP2 PIGW CACNA1G SALL4 COLEC10 MED12 HHAT FOXL2 PGAP3 SMPD4 WNT5A ARX DGCR6 DMD SLX4 ABCC9 BRCA1 PIGV GDI1 LMNA SLC6A17 BCOR KMT2A USP9X DOCK6 MYT1L B9D2 HNRNPH2 BPTF TUBB MAPRE2 KIF15 MLXIPL TRMT1 KANSL1 ACTL6B CREBBP LIG4 FANCB FBXW11 PIEZO2 RAC1 SOX6 KRAS ARHGEF6 MEG3 MED13 TBX15 ATP6V1A GTF2IRD1 RPS6KA3 HSPG2 DLK1 KCTD1 GTF2I DONSON FANCM ESS2 BMP1 NSUN2 ACTL6A ZMPSTE24 TANC2 MAGEL2 RFC2 PALB2 HNRNPK SETD5 TRIP12 ANK1 MYCN FIBP ZNF148 CLTCL1 GATAD2B DLG3 BCR BCL11B ATR MIR140 TBL2 OTUD6B DGCR8 RBMX DOCK3 AUTS2 ALG14 DDX6 LIFR SNX14 FANCI DDR2 MAFB CEP55 ALX4 XRCC2 MYH3 ERCC6 SMAD4 UPF3B ADNP PHF6 TXNL4A FOXP1 MUSK CLP1 TBX1 FOXG1 KMT2D RAD51C IQSEC2 MASP1 GPC6 DVL3 RNU4ATAC FAT4 SLC2A10 ACTB MCTP2 ORC1 FOXE3 SMOC1 LIMK1 FTSJ1 PIGL ANKRD11 CDK13 SALL1 NTNG1 TCF20 FANCE SMARCA2 SEPTIN9 DVL1 PURA NFIB COG7 ACSL4 ERCC1 ROR2 ODC1 DCHS1 FZD2 RERE RAD51 TLK2 ZMIZ1 CHD4 MAP2K2 PYCR1 LARP7 PAX3 ATRX INTS1 CEP152 SCARF2 ZNF81 PGAP2 CUL4B PAK3 KMT2E DNMT3A HDAC4 NXN FANCD2 GPKOW MADD PCNT PDE4D CCNK SYP MECP2 BRIP1 BRAF EFEMP2 MID2 ERF GJA1 KAT6B CRKL ARID2 TMEM107 SVBP RTL1 UGDH RBM10 ACTG1 ERMARD SOX11 PIGO BRPF1 AGTR2 ZNF711 MOGS PGM3 RPL10 PIK3R2 WAC COLEC11 MAPK1 CNKSR2 PIGY MAP2K1 TP63 B3GLCT ERCC4 CEP57 DGCR2 CLCN4 RBPJ CAMK2G FANCF ALG13 UBE3B PCGF2 EXOSC2 ZNF41 RLIM HUWE1 PTCHD1 POLR1A SLC25A24 TSPAN7 RAB39B BRCA2 DACT1 RHOA SOX9 SLC9A7 KCNJ2 FRMPD4 FANCC CHN1 ELN PSMD12 USP27X STAC3 CXorf56 TENM3 BCORL1 BAZ1B SMC1A EP300 SPOP PUF60 FANCL PRMT7 STRA6 UBE2T RECQL4 RFWD3 FANCG FANCA IL1RAPL1 THOC6 WDR35 MAD2L2 KPTN TBL1XR1 SMO HCFC1 PCLO WDFY3 PPP1R12A TRAPPC4 RAB18 HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM AHSG ITGB6 PDHB LSS SLC35A2 HP_NEOPLASM_OF_FATTY_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_FATTY_TISSUE ZSWIM6 MT-TP CDKN1B APC CDKN1A PIK3CA FUZ ALX1 MEN1 CDC73 FLCN PTEN FGFR1 LEMD3 SPRED1 MT-TK CDKN2C SDHD GNA11 MT-TS2 VANGL1 TBXT MT-TL1 AKT1 SEC23B KRAS ALX3 MT-ND5 RPL10 SDHB CCL2 CDKN2B BMPR1A VANGL2 USF3 ENPP1 MT-TQ ABCC6 MSTO1 KLLN TAF1 MT-TF AP2S1 MT-TH SDHC MT-RNR1 MFN2 HP_CORNEAL_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_EROSION FGF10 KIFBP COL4A4 FGFR2 TGFBI CHST6 TP63 FERMT1 NIPAL4 COL7A1 SPINT2 PNPLA1 GATA1 ABCA12 TGM1 COL4A3 PRDM5 COL4A5 COL17A1 FOXC2 SLC39A4 ELP1 CTNS FOXE3 GJB6 HLA-B MMP1 UROS MBTPS2 ALOXE3 CERS3 ZNF469 KRT3 ALDH3A2 NTRK1 TWIST2 FGFR3 GJB2 ALOX12B CLTCL1 PLCG2 MPV17 IKZF1 HP_DOWN_SLOPING_SHOULDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWN_SLOPING_SHOULDERS CLIP2 RUNX2 TBL2 OTUD6B DOCK3 LMNA DDX6 RLIM ATP7A TRPV4 BPTF PPP1R15B PAX1 TBX5 CUL4B CHD7 TRMT10A KMT2E SUFU MYT1L EYA1 BCOR PIEZO2 ELN MLXIPL PSMD12 TRMT1 ACTL6B BCORL1 EFNB1 BAZ1B FBXW11 LIMK1 SVBP MED13 SPRTN GTF2IRD1 NTNG1 TCF20 GTF2I NAA10 ACTL6A TANC2 RFC2 IRX5 PTCH1 WDFY3 PTCH2 SEMA3E ZMIZ1 TRAPPC4 HP_OCULAR_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_PAIN SLC39A14 COL8A2 SF3B1 VSX1 CHST6 BAP1 GNAQ GRHL2 CYSLTR2 OVOL2 SCN9A ZEB1 GNA11 CTNS HP_PAPULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPULE NOD2 LPIN2 GNAS GLMN ECM1 ERAP1 TLR4 TGM5 EGFR COL7A1 TMC6 IL17RA PLEC XYLT1 PTEN TMC8 AEBP1 GGCX HAVCR2 NLRP3 CSTA ERCC4 HLA-DPA1 COL5A2 GNAQ ANTXR2 SDHD IL17F LRP1 MEFV UBAC2 CARD14 AKT1 ABCC6 NAGA CCR1 NF1 SEC23B XYLT2 POFUT1 CTLA4 PIK3CA STAT4 SDHB FLCN HLA-B KLRC4 IL23R MBTPS2 IL10 FAS PEPD IL12A LEMD3 IL17RC GJB2 USF3 CYLD HLA-DPB1 COL1A1 CIB1 PTPN22 ELOVL4 CLEC7A PRTN3 AQP5 KLLN IL12A-AS1 SLC17A9 COL5A1 ZMPSTE24 IL7 C4A MVK STAT3 SDHC TRAF3IP2 LMNA HP_SKIN_PLAQUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PLAQUE GLMN PSMB8 CD28 COL2A1 TMC6 HLA-DRB1 KRT83 TRPM4 COL7A1 UBA1 TMC8 LAMA3 LORICRIN LAMB3 RASA1 CIB1 HAVCR2 CARD14 SDHD BTNL2 KDSR CTLA4 MEFV TSC1 TSC2 IL7 ADA2 LAMC2 TNFRSF1B HP_SKIN_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_NODULE SLC37A4 GNAS MLX GLMN MDM2 COL5A2 PTEN APOB DDIT3 FGFR2 KIT IARS2 BTNL2 GPC1 APOA2 MYSM1 MEFV MMP2 HMGA2 LEMD3 BCL2 FGFR1 CCR1 SEC23B ATP2A2 HLA-DRB1 PIK3CA GJB2 STAT4 IFNG IL23R IL10 FAS GLA USF3 COL1A1 ANTXR2 FERMT3 ABCC6 KLLN LDLR CYP27A1 IL12B KIF11 SDHC APOE NOTCH3 BRAF PCSK9 PTPN11 AKT1 ASAH1 TSC1 IDH1 MMP14 CDK4 MC1R ECM1 ERAP1 CYLD TLR4 G6PC COL7A1 DACT1 BCL6 ACVR1 TTPA SDHD TNFRSF11B FBN1 UBAC2 NAGA EPHX2 APC KRAS IDH2 PPP1R17 FUS SDHB HLA-B KLRC4 TEK KIF1B TNFRSF11A SALL1 IL12A PDGFRB OCRL NRAS ENPP1 GHR INSR RAF1 COL3A1 IL12A-AS1 PORCN CTNNB1 COL5A1 PDGFB TSC2 C4A LPL PTH1R HP_SKIN_VESICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_VESICLE USB1 ATP2C1 TINF2 NPM1 DSC3 COL7A1 NOP10 PLEC TERC CTC1 KRT14 WRAP53 PARN KRT5 MEFV RTEL1 NHP2 STAT3 SLC35C1 DKC1 ATP2A2 PPOX TERT PKP1 HP_PUSTULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUSTULE JAK3 LPIN2 PSTPIP1 ECM1 EGFR TMC6 CTSC IL1RN SCNN1A TMC8 CIB1 IL36RN STING1 IL17RA ADAM17 MEFV IL7 CARD14 SLC39A4 SCNN1G MRTFA SCNN1B CTSB HP_EPIDERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMOID_CYST CTNND1 APC KRT6A KRT17 TSC1 TSC2 KRT6B ANTXR1 CDH1 CEP57 KRT16 HP_SKIN_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_EROSION COL2A1 ZMPSTE24 JUP DSP ATP2C1 COL7A1 TGM5 PLEC NAXE ITGB4 LAMC2 LAMA3 LAMB3 LMNA CSTA PPOX ARL6IP6 HP_SKIN_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_ULCER NOD2 SRP54 MLX LBR CD28 GFI1 TP63 CAV1 CCR6 WNK1 KIAA0319L SPTB TERC RASA1 WIPF1 PLEC IRF5 SPTA1 EPB42 HBB ITGB4 GNAQ WAS COL3A1 MEFV RTEL1 KIF1A PIGL TAPBP TRPV3 KRT1 TERT USB1 TREX1 PSTPIP1 OCRL PTPN22 RETREG1 GBA NCF2 PEPD IL17RC NGF DOCK8 CCT5 PGM3 COL1A1 IKBKG WDR1 SPTLC2 PRTN3 AQP5 LYST MBTPS2 PARN ITGB2 IL12B LAMA3 STAT3 KIF11 HLA-DRB1 NOTCH3 MPV17 TAP2 IDH1 CYBC1 TINF2 NPM1 IL17RA BTK HAVCR2 HLA-DPA1 CYBB ANK1 ANTXR2 CTLA4 IL17F CYBA AK2 PERP CCN2 SLC39A4 ADA2 GBE1 PROS1 NCF1 NOTCH2 GJB6 BMS1 KRT10 HLA-B LMNA NOP10 PDGFRB HLA-DPB1 NTRK1 TAP1 SLC4A1 CLEC7A CTC1 WRAP53 ELANE PDGFB GJB2 NHP2 DLL4 TNFRSF1B NCF4 IDH2 SCN9A TRAF3IP2 DKC1 TCIRG1 WRN PTH1R PKP1 HP_VERRUCAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERRUCAE LRRC8A TMC8 TMC6 ECM1 STK4 IVNS1ABP FCN3 CXCR4 IGHM DOCK8 CIB1 PIK3R1 IKBKG CARMIL2 CD79B TCF3 KRT9 IL7 DCLRE1C CD79A IGLL1 KRT16 KRT1 BLNK HP_POROKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POROKERATOSIS RECQL4 PMVK SLC17A9 ANAPC1 MVK FDPS MVD HP_CYANOTIC_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOTIC_EPISODE PSAT1 SCN1B GABRA1 SCN1A STXBP1 SCN2A GABRG2 PCDH19 SCN9A HP_UPPER_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_HYPERTONIA VPS37A TSEN15 SPG7 TSEN34 TSEN54 MTPAP SEPSECS TSEN2 HP_SMALL_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_HAND KIFBP FMR1 TBCE HPGD TCF4 HTT USP7 CTNND2 IGF1R WNT5A RMRP TRPV4 LTBP3 SIN3A DLK1 KDM6A CUL4B FGD1 USP9X MECP2 SMC3 COL3A1 SMC1A BPTF MKRN3 XYLT1 SNORD115-1 MEG3 COG4 FBXO11 MAPK8IP3 RTL1 MBD5 NTNG1 MAGEL2 NALCN FGFR2 LIG4 NDN HDAC8 SNRPN LAS1L GJA1 CDK10 EVC NIPBL SON CANT1 CCBE1 KMT2A OCA2 SLC6A17 RECQL4 TELO2 SATB2 CENPE NSUN2 PCGF2 SLCO2A1 GALNT2 PUM1 HUWE1 UNC80 CDKL5 COL11A1 ADNP SHROOM4 PWRN1 PIGN SETD5 GABBR2 MIR140 DYNC1H1 KCNJ2 CNOT3 SIM1 FBN1 DVL1 HERC2 HDAC4 KMT2D AFF4 WDR81 MCTP2 ORC1 PWAR1 PPM1D SPECC1L NGLY1 COG1 EVC2 STXBP1 ROR2 SLC26A2 NPAP1 FAM50A RAD21 TUBB3 SMARCD1 SNORD116-1 SEMA5A DPM1 POC1A DPH1 WRN HP_COLORECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLORECTAL_POLYPOSIS SDHB BMPR1A GREM1 POLE KEAP1 AXIN2 DICER1 RNF43 USF3 CDKN2A POLD1 PTEN KLLN SDHD TP53 MDM2 MUTYH MSH3 AKT1 SDHC SEC23B CHEK2 PIK3CA HP_CHORIORETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DEGENERATION GUCA1A PRPH2 ACVRL1 COL8A2 GUCY2D HADHA CRB1 VSX1 OAT CYP4V2 SLC25A15 DPP6 GRHL2 CHM PAX2 NDE1 ADAMTS18 SAG FSCN2 NRL ZNF408 VCAN RP2 ROM1 RPE65 POU3F4 TEAD1 OVOL2 ZEB1 CRX JAG1 EYS HP_RECURRENT_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SPONTANEOUS_ABORTION SYCP3 SERPINC1 F2 ANXA5 ABCC6 ENPP1 F13A1 F5 F13B C11orf80 HTR1A HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE CCDC65 CFAP298 CCDC151 DNAAF5 HYDIN ZMYND10 CCDC114 SPAG1 LRRC6 ARMC4 HP_LIMB_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_TREMOR MPZ SLC12A6 CARS2 TUBB4A UBE3A ITPR1 COL6A3 PMP22 PGAP1 CACNA1G ITPA ANO3 CIZ1 HP_ORAL_MUCOSAL_BLISTERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_MUCOSAL_BLISTERS LAMA3 LAMB3 ITGB4 COL17A1 COL7A1 LAMC2 MMP1 KRT5 KRT14 JUP ITGA6 PLEC DSP HP_ABSENT_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SKIN_PIGMENTATION MC1R KIT OCA2 SNAI2 TYRP1 TYR HP_DECREASED_ABSENT_ANKLE_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ABSENT_ANKLE_REFLEXES MYOT POLG HARS1 GJB1 ATP6AP2 DYSF ALDH18A1 SQSTM1 MFN2 ARL6IP1 ATXN3 PGM3 C19orf12 GNE KLHL9 PDK3 PLEKHG4 VPS13A RRM2B SACS HINT1 OPA3 POLG2 RAI1 VCP MRE11 SLC25A4 TWNK HP_SPARSE_OR_ABSENT_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_OR_ABSENT_EYELASHES SNRPE RECQL4 NOP10 KRT85 POLR1C SF3B4 LIPH TWIST2 LMNA KRAS SPINK5 EPS8L3 NECTIN4 ALX1 DSG4 RMRP HR POLR3A DLX4 RPL21 ANAPC1 GJB2 BRAF TRPS1 RIPK4 TSR2 MPLKIP LSS EDA EBP B4GALT7 FIG4 GTPBP2 KANK2 GJA1 RNU4ATAC ZMPSTE24 APCDD1 MAP2K1 CLDN1 ITGA3 TP63 ANTXR1 COL11A1 NECTIN1 KRT74 BANF1 FRAS1 SOX18 EDAR DPH1 CST6 KREMEN1 NF1 ALX4 ODC1 DSP EDARADD LPAR6 TCOF1 LRP1 DOLK NHP2 CDH3 VAC14 EDNRA DSC3 MBTPS2 PHGDH GJB6 HOXC13 POLR1D KRT25 WDR35 CWC27 BLM DKC1 MAP2K2 TMCO1 PKP1 HP_ABSENT_SHORTENED_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SHORTENED_DYNEIN_ARMS CFAP298 DNAAF5 CFAP300 CCDC114 DNAL1 LRRC6 CCDC151 ZMYND10 DNAAF1 TTC12 DNAAF3 NME8 CCDC39 HP_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ALKALOSIS SCNN1A NARS2 CLCNKB CACNA1D NR3C1 BSND HSD11B2 KCNJ5 SLC12A3 SCNN1B SCNN1G SLC12A1 CLCNKA KCNJ10 HLA-B IKZF1 SLC26A3 KCNJ1 HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS AICDA ZAP70 SCNN1G RAG1 RAG2 SCNN1A SCNN1B USP9X GLI3 UNG DCLRE1C HP_CHRONIC_ACTIVE_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ACTIVE_HEPATITIS ALMS1 KRT8 C4B KRT18 AIRE HP_CHRONIC_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS RFXANK RFXAP CD40LG HBB ALMS1 KRT8 C4B KRT18 RFX5 AIRE CIITA IL21R HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION RFXANK RFXAP RFX5 CIITA IL21R HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS PNPT1 MT-ATP6 MT-CYB MT-ND1 FBXL4 MT-ND4 TRMU MT-ND5 MT-CO1 MT-ND2 NDUFS2 MT-ND4L PREPL MT-CO3 MT-ND6 CAMKMT SLC3A1 PPM1B HP_BIVENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIVENTRICULAR_HYPERTROPHY ATP6V1E1 TNNC1 PRKAG2 TALDO1 CACNA1D HP_EPILEPTIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_ENCEPHALOPATHY NRXN1 NECAP1 GABRG2 KCNB1 SYNJ1 KCNQ2 SLC35A2 DOCK7 GABRB3 PIGA GABRA1 FCSK CARS2 SCN2A CACNA1E CYFIP2 WWOX SLC25A12 CLCN4 KCNQ5 PHACTR1 NEUROD2 PAFAH1B1 SCN1B ARHGEF9 CACNA1B STXBP1 MDH2 CNPY3 TBC1D24 UGDH GABRB2 SLC6A1 SLC13A5 PMPCB ADAM22 GRIN1 GNAO1 SLC25A22 GUF1 SIK1 NUS1 SZT2 ST3GAL3 AP3B2 GRIN2B PIGP SLC1A2 SYNGAP1 DCX AARS1 KCNA2 HNRNPU DNM1 PPP3CA PNPO NTRK2 EEF1A2 SPTAN1 FRRS1L CHD2 ALG9 GABRB1 HCN1 DENND5A KCNT1 RNF13 TWNK CDKL5 GLS DNM1L MEF2C GABBR2 PACS2 ARX AP2M1 SCN8A ARV1 CPLX1 SCN3A SCN1A GRIN2D DPM2 MDH1 COQ4 CNTNAP2 STAG1 BOLA3 CACNA1A ATP6V1A PLCB1 KMT2E CUX2 KCNT2 CAD FGF12 PARS2 CACNA2D2 ROGDI DHDDS HP_ORAL_PHARYNGEAL_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_PHARYNGEAL_DYSPHAGIA HTT GRIN2B CAMK2B KDM5B ASPA KCNQ5 GRIN1 DEAF1 CAMK2A DMPK KIRREL3 ASAH1 CNTNAP1 BRSK2 SLC2A3 TSEN2 CLTC RAI1 UBB TAF1 DLX4 EEF1A2 TSEN15 ADNP TP63 TSEN34 CTNS MBD5 SET TSEN54 DLG1 HIVEP2 ZMYND11 NECTIN1 PPP3CA CIC DYNC1H1 IRF6 BMP4 CDH1 GRHL3 TRPM3 FLCN SEPSECS TAOK1 EPB41L1 NGLY1 C12orf65 MYT1L CDH15 CSNK2B CUX1 CHAMP1 CACNG2 KIF1A ASH1L DOCK8 SYNGAP1 TANGO2 YY1 ARHGAP29 TCF4 ADCY6 EXOSC9 MSX1 RAB11A MED12L STXBP1 HP_NEURONAL_LOSS_IN_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_BASAL_GANGLIA NDUFAF3 NDUFB8 MAPT VRK1 HTT SURF1 NDUFS2 SCO2 HP_AGENESIS_OF_LATERAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_LATERAL_INCISOR EDA B3GLCT IRF6 BMP4 CDH1 DLX4 BCOR TP63 ARHGAP29 NAA10 MSX1 DLG1 NECTIN1 BLM HP_AGENESIS_OF_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_MAXILLARY_INCISOR RIPK4 B3GLCT NAA10 BCOR BLM HP_TALL_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALL_CHIN APC2 EIF2S3 MYH8 NSD1 TLK2 OPHN1 SETD2 HP_MENOMETRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENOMETRORRHAGIA FGB FGA FGG ITGB3 ARMC5 GNAS ITGA2B HP_CLEFT_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_HARD_PALATE TP63 NEK1 ZEB2 EIF4A3 AMMECR1 HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM KIT NODAL PIGW VPS13C SALL4 GDNF TCF4 TRDN SCN9A PGAP3 ARMC9 CACNA1C UCHL1 TBX1 SF3B4 RMRP TTR KCNQ1 TMEM231 BRCA1 PIGV SNTA1 TXN2 RPGRIP1L COL5A2 PAX3 CYP11B2 DISP1 VPS35 PIGN DNAJC13 UFD1 SIM1 PHOX2B SCN3A SLX4 CYB561 MAPT ELP1 DBH B9D1 RAD21 TGIF1 SIX3 INPP5E SNAI2 ACTG2 GLUD2 SOX10 FANCB B2M B3GALT6 PINK1 HEXB SEC24C KRAS BDNF ATXN2 ZEB2 KIFBP DHCR7 SETBP1 GSN FANCM COL1A1 ATXN3 SCN4B RREB1 KATNIP ADH1C BRAT1 ARX PALB2 RET ASCL1 VPS13A HIRA CALM1 COQ2 FOXF1 SYNJ1 SMC1A SHH EDN3 L1CAM GLI2 SCN5A CC2D2A LIFR TSPYL1 FANCI NOS1AP KITLG EDNRB TMEM138 XRCC2 GP1BB TMEM67 SNCA POU2AF1 SCN11A CAV3 TCTN2 NRTN STAG2 TMEM237 FBXO7 ARL13B RAD51C CDON EXOC6B PTCH1 PIGL CEP41 DLL1 TNFSF15 SETD2 KIF1B MBTPS2 EIF4G1 GAS1 FANCE PSAP GATA1 MITF SEPTIN9 MYO1H NAA10 AHI1 VPS11 TWNK ARL6 COL5A1 NTRK1 GBE1 LRRK2 JMJD1C RAD51 TUBB3 FGFR1 FOXH1 CEP104 GBA SCN10A ZIC2 HYLS1 CPLANE1 ANK2 GLA IL12A TDGF1 SH2B1 SLC6A8 ARSA CHCHD2 CISD2 GMPPA SLC6A2 CSPP1 NR4A2 PODXL DDX59 PGAP2 LEP SPIB FANCD2 COMT MKKS BCOR MKS1 AAAS MMEL1 BBS1 BRIP1 SEMA3D KCNE1 TCTN1 ACOX1 ATRX TMEM216 PIGO KCNE2 APC2 HTRA2 CCDC28B DNAJC6 SEMA3C PIGY FGF8 ERCC4 FMR1 KIAA0586 IL12RB1 FANCF PRNP CCT5 NPHP1 ZNF423 TBP EP300 CEP120 PLA2G6 ARVCF BRCA2 ARL3 NSD1 CHRNA3 ATXN8OS FANCC CREBBP LMNB1 CAV1 POLR3A GJB6 PIBF1 WDR45 ECE1 IRF5 TNPO3 GIGYF2 CALM3 FANCL WFS1 UBE2T RFWD3 KCNH2 FANCG PRKN FANCA DYSF SNCAIP GABBR2 MAD2L2 AKAP9 LEPR GJB2 GCK SLC18A2 CALM2 PARK7 MECP2 CEP290 PLOD1 KCNJ5 ATP7A PPOX HP_ABNORMALITY_OF_MASTICATORY_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MASTICATORY_MUSCLE AK9 MUSK ATXN1 CHRNA1 NECTIN1 IRF6 DMPK LRP4 COL13A1 CHRNE SRPX2 CHRND MSX1 SCN4A PI4KA AGRN RAPSN CACNA1S TP63 ADGRG1 RYR1 CHRNB1 DOK7 HP_RECURRENT_EAR_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_EAR_INFECTIONS PIK3CD IDUA SRP54 ELANE SP110 GFI1 KNSTRN DDOST IDS LEP ODC1 UBE2A TCIRG1 HP_EPIGASTRIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIGASTRIC_PAIN CFH HELLPAR CTNNB1 MET CFI CD46 ALMS1 HP_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_LIP VANGL2 TP63 MEOX1 WDR35 NODAL GLI3 PROP1 SMPD4 STAG2 CDH1 EVC C2CD3 SF3B4 MKS1 WNT5A CEP120 PIGV FGD1 TSR2 PAX3 PHF8 DISP1 MEIS2 PIGN FLII FOXF1 ASXL1 AMER1 MID1 RSPO2 TGIF1 SIX3 SUMO1 POU1F1 NUP107 RIPK4 RAI1 CPLX1 GRHL3 SLC29A3 IRF6 ITGA8 HYLS1 RIC1 INTU CYP26C1 RPS19 NSD2 NSDHL ADA2 VAX1 POMT2 SMCHD1 ESCO2 TRRAP MSX1 RPGRIP1L RPL35 RPL15 FGFR1 RPL31 SEMA3E FLNB NECTIN1 SMC1A KRAS FRAS1 IL1B GPC3 SHH B3GLCT DHODH LHX4 TFAP2A GLI2 CDON DEAF1 FGF20 GPC4 DSE WNT4 SMAD4 BMP4 MED12 GATA1 NELFA RPL26 CHD7 DYNC2H1 TXNL4A SUFU RET DYNC2I2 MASP1 DVL3 RPL5 ALX4 SLC2A10 ACTB SMOC1 NBN PTCH1 DLL1 NSMF GAS1 TMCO1 KANSL1 POMT1 IQSEC2 DVL1 PHGDH TBX2 NAA10 CPLANE1 NEK1 SPECC1L PROKR2 GRIP1 YAP1 CHST14 FZD2 RPS15A FOXH1 PTCH2 KIF7 ZIC2 RPL27 FKTN TDGF1 TAPT1 INTS1 MTHFR NIPBL POLR1C EIF2S3 DDX59 LETM1 TGDS CC2D2A WNT3 BCOR RPS17 DLX4 GREB1L RPL11 SMG9 OFD1 PORCN CILK1 IL1RN FOXC2 CTNND1 GJA1 COLEC10 RPL35A RPS10 COLEC11 UBB RPS7 FGF8 KATNIP IFT57 SMO RERE EFNB1 DYNC2I1 LARGE1 MSX2 EVC2 TCTN3 HESX1 ZSWIM6 TRAPPC9 ARHGAP31 CTBP1 RPS24 HOXD13 FGFRL1 RPS26 RPS28 TCTN2 DDX3X JUP ALX3 RPS29 RPL18 TCOF1 LMX1B FOXA2 SPOP FREM2 IFT80 EPG5 POLR1D RPS27 OTX2 KLHL7 FKRP FAM20C HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE PHGDH FKTN NSUN2 DGCR8 AMMECR1 PPP2R5D AMER1 CDH11 STAG2 POMK PTDSS1 DGCR6 LMNA KIF7 BCOR KRAS CDC6 POMGNT1 TBX1 PIEZO2 HYLS1 HYAL1 CARS1 LARGE1 COL4A1 RXYLT1 BRAF POMT2 COL2A1 TP63 LIG4 ZEB2 SMCHD1 CDC45 RNU4ATAC KAT6B SOX6 ZMPSTE24 FOXP2 DAG1 SIX3 FKRP SMAD4 CDT1 ESS2 ORC1 MAP2K1 POMGNT2 ORC6 DHCR24 POMT1 CRPPA B4GAT1 B3GALNT2 PSAT1 DGCR2 MAP2K2 ORC4 GMNN TCTN3 HP_ABNORMAL_T_CELL_ACTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_ACTIVATION LEP CARMIL2 TGFB1 CD40LG EPG5 MAGT1 LEPR CASP8 HP_ABNORMAL_LIVER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_MORPHOLOGY LYST WDR35 NDUFS4 CYP7A1 TUFM LYRM4 PCSK9 GUCY2D AXIN1 PEX5 AGA JAK2 IFT122 RMRP KCNH1 HLA-DRB1 CCDC115 LARS1 PEX12 BCS1L CTLA4 ACOX1 TTC37 NDUFV1 ATP7B RAG2 NPHP3 TCF3 BTNL2 RTEL1 EOGT IFT27 HNF1A HNF4A PEX6 CTNS NOTCH1 CEP55 IDS NPC2 PRF1 KRT18 SLC29A3 SP110 CD3D ABCC8 CBS HYMAI SLC25A13 PEX10 IL18BP PIEZO1 BSCL2 CLDN1 MET VPS13A FUCA1 MT-TV PHKA2 DCDC2 ALG8 FDX2 IL7R JAK3 CR2 TMEM107 ASS1 IRAK4 ALG9 NCF2 GPC3 G6PC PEX26 ATP8B1 GLB1 PEX16 SOS1 POU2AF1 SDHD DYNC2I2 NHP2 APOE BICC1 MKS1 CFTR GAA HBG2 GLRX5 SKIV2L TREX1 NDUFA1 TMEM67 ERCC1 LACC1 NEK8 GUSB ERCC8 FASLG LRRC8A SLC22A5 SHPK SLC20A2 DNASE1L3 NHLRC2 KIF20A CORIN POLG COG7 PCCB STEAP3 LBR EWSR1 DCLRE1C TMEM70 SNX10 CARS2 TNFRSF1B DKC1 TNFSF11 CYP7B1 CIITA HMGCL ENG TET2 TNNT2 VPS45 NDUFAF1 CIDEC TTC21B RECQL4 MVK GDF2 IFT172 PIGA TNFRSF13C MYPN MYBPC3 KRT8 TSC2 HADH ANKS6 APC MADD SLC30A10 POLD1 GLIS3 PSAP RAG1 ABCG8 ENPP1 TCTN2 EIF2AK3 PIGS MT-ND2 FERMT3 TNFRSF11A PEX2 BBS9 TARS2 MPC1 AUH IQCB1 GBA RFXANK XIAP PEPD PRKCSH IL12RB1 MPV17 HBB CDIN1 SLC25A20 PKD1 XK MMAA BRCA1 IGF2R FBP1 SERPINA1 TNNI3 LIPA PNPLA2 PDGFRB CYBB ANK1 ACADM RAC2 KCNJ11 RNASEH2A TTC7A LDLR IGLL1 STOX1 RRAS MT-ND5 DLD RUNX1 CLPB NPHP1 FOS FGFR2 TNPO3 RIT1 IFT80 COG4 AMACR NOP10 DDRGK1 SC5D SCARB2 TRMU SDCCAG8 LPL FECH TTC8 LMNA NAGA CD79A ADA CASR NCF4 COA8 SFTPC INPPL1 RERE MFN2 APOA1 VPS33B CLCA4 NDUFA11 PEX11B SMPD1 SBDS HPGD CPOX ERCC6 CD19 DCTN4 DNAJB11 COX14 SLC25A15 SUMF1 HBG1 RRAS2 CAVIN1 TIMMDC1 CD96 SPTA1 FAS NDUFS6 MUC5B TCIRG1 SMAD4 TERT FARSA DIS3L2 PLAGL1 BBS1 GNAS ITCH ADK TBX19 HAMP OCLN CD55 ETFB PC MYORG ABCC2 DHDDS CAV1 CASP8 SRSF2 SLC25A19 NR1H4 TGFB1 LIG4 PEX14 RBCK1 B9D1 XYLT1 TYMP LIPE GALT LPIN2 ADAR PMM2 CYBC1 ASXL1 SLC37A4 NLRP3 RFX5 ACVRL1 CD3E CD70 CYBA NAGS PEX1 PTRH2 IDUA PHKB INSR MT-ND6 AKT2 RFT1 ASAH1 ABHD5 BOLA3 TNFSF15 MT-TL1 ZAP70 GATA2 EFL1 HADHA MT-ATP6 PSMB9 PLPBP NDUFS3 NSMCE2 COX15 RIPK1 ALDOB LCAT NAGLU CEP290 BRCA2 MRPS28 PLEKHM1 CBL MRPL44 MT-CYB HSD3B7 SLC40A1 STN1 NDUFV2 SAA1 SLC7A7 ETFA IL12A TP53 MMUT DLL4 CD28 CYP19A1 TPP2 HBA1 EARS2 MEFV TMEM231 DGUOK EXTL3 DNAJC19 RHBDF2 LDLRAP1 DZIP1L F5 USB1 CC2D2A MMAB NDUFS1 MPI IGF2 PSTPIP1 NDUFS8 PSMB4 MOGS CCDC28B CD247 SLC13A5 HYOU1 GALK1 JAM2 PRDM16 SH2D1A IL2RA MTX2 AGPAT2 PIGM XRCC4 TINF2 NDUFB9 HFE KRAS UNC13D NDUFAF4 UCP2 SLC4A1 NDUFS7 WDPCP RNU4ATAC RINT1 TSC1 HJV ADA2 PPARG CPT2 RRM2B RPGRIP1L SLC2A1 TALDO1 ABCB4 MPL KCNQ1 NGLY1 KCNQ1OT1 MCM4 RMND1 CA2 GNE NPC1 CTNNB1 GCDH ACADVL IFNGR1 UQCRB CLCN7 DPM1 RBM8A RNASEH2B STAT1 IFT43 GCLC IFIH1 PCK1 ARL13B ATP7A IL2RG PEX19 FARSB ABCG5 TRAF3IP1 EPB42 SAMHD1 NCKAP1L CPT1A RPGRIP1 PCCA MLXIPL SLC35C1 ICOS RAB27A HBA2 AGGF1 B2M HMGCS2 GALE RBPJ PTPRC PSMB8 NEU1 NDUFB10 DHFR COX4I2 PRKCD WDR19 KIF3B PALLD ALG2 SLC17A5 MRPS7 PDGFB SOS2 CHD7 MCCC1 BMPER TRIM37 STXBP2 SNX14 IGHM MT-ND1 INPP5E GFM1 PEX13 TRAPPC11 NDUFAF2 PCK2 ARHGAP31 DYNC2H1 LMNB2 DAXX HADHB KLF1 ATP6V1B2 CTSK PHKG2 DYNC2LI1 SGSH C8orf37 MT-ND3 FAH NLRP1 ASL RASGRP1 NDUFAF3 AIRE CCDC47 ADAMTSL2 CDKN1C CTC1 IARS1 ARL6 SCO1 RNASEH2C PEX3 ALMS1 MRAS NDUFA6 PKD2 XPR1 MT-TK APOC2 FLT1 TRAF3IP2 RFXAP TMEM216 GNPTAB ABCB11 SPTB TERC MIF FOXRED1 SPIB COG5 VIPAS39 COG8 GBE1 MMEL1 C1QBP GPC4 TMEM126B STAT3 BLNK ETFDH TRIM32 BBIP1 AKR1D1 CTSC POLG2 AP1B1 SRP54 OSTM1 ATP6AP2 KCNN3 AP1S1 KCNAB2 POLR3A YARS2 ANTXR1 NUBPL BTD HNRNPA1 ABCA1 HSD17B4 NPM1 MT-TW NCF1 MAN2B1 DDOST BTK INVS IL1RN FLNC SLC25A1 ABCC6 GPD1 TFAM CD27 ACP5 IL17F PKHD1 DPM2 JAK1 CD40LG KCNN4 NOTCH2 LRP5 CTSA IRF5 GABRD FAM111B MAGT1 ACAD9 LTBP3 KPTN LRPPRC TSFM WT1 TCF4 PIK3C2A FOXP3 NDUFS2 SCYL1 TMEM165 MT-ND4 IL6 VCP SEC63 LYZ ERCC4 LZTFL1 SFTPA2 NRAS RASA2 COG6 AP3D1 VPS33A PYGL PDGFRA TKFC PLIN1 HEXB CDKN2A TJP2 MARS1 BBS10 RHAG GPIHBP1 DNAJC21 SDHA USP18 ABCD3 CD79B CALR TRMT5 ERBB3 TNFRSF1A IFT140 FBN1 JAM3 ATP6AP1 SLCO2A1 IFNG A2ML1 COX5A ARG1 CASP10 RAF1 CEP164 HMOX1 NEUROG3 SOX10 COG1 MT-TN C1S SKI GANAB NDUFAF5 ALDH7A1 BBS7 PGM1 SF3B1 ATRX NDUFB11 NDUFB3 CLEC7A STX11 ALG1 WRAP53 AGL MT-TE DLK1 UROD ACAT1 MST1 SURF1 MYRF IL2RB ATPAF2 PALB2 PIK3CA GPC1 STX1A FADD JAG1 CEP19 GALNS ALG13 TKT FGA PTPN11 SLC39A4 IL17RC MKKS AP3B1 BBS5 MEG3 KRIT1 B9D2 ACADS MRPL3 PARN BBS4 BMP2 RTL1 PNPLA6 APOB GPR35 DYNC2I1 BBS12 GNS ATAD3A C4B IL17RA NEK1 HAVCR2 SAR1B DOCK6 DOLK TNFRSF13B G6PC3 HNF1B SLC2A2 NPHP4 IL21R ELN GNMT CSPP1 MYD88 HNRNPA2B1 HGSNAT LZTR1 TMEM199 NDUFAF8 PIK3R1 PDGFRL COG2 MTTP PTEN OFD1 TFR2 ARSB CP BBS2 ITK HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY CLIP2 NODAL COLEC10 PUF60 SOX4 HES7 CDH1 TBX1 RMRP KCNH1 ARID2 BRCA1 ZIC1 ITGB4 PAX3 DISP1 GDF6 UFD1 ARID1B SLX4 AMER1 TGIF1 SIX3 KANSL1 MTR LARGE1 LIG4 FANCB KIF22 SEC24C FLNA GLI3 NOTCH3 TBC1D24 GTF2IRD1 GTF2I TBX6 SETBP1 FANCM RREB1 IKBKG KIAA0586 RFC2 PALB2 HIRA FIBP FLNB SMC1A MTHFD1 FRAS1 SHH PHGDH IRF6 SNRPB TBL2 GLI2 PIK3CA FKRP FANCI MAFB NEK9 XRCC2 MYH3 GP1BB SMARCE1 CCNQ INPP5E CEP290 STAG2 SUFU SMARCA4 SALL4 RAD51C MASP1 ALX4 HAAO CDON BMP2 TNXB LIMK1 POLA1 PTCH1 DLL1 GAS1 FANCE PTPN11 MTHFR GRIP1 JMJD1C RAD51 FGFR1 FOXH1 PTCH2 DLK1 ZIC2 CHRNG WNT7A POMT2 TDGF1 FUZ DACT1 RECQL4 MEOX1 DPF2 GDF3 SIN3A PLEC POMT1 FANCD2 COMT VANGL1 TBXT MESP2 BRIP1 PORCN ACTB CCL2 SOX11 SC5D SMARCD1 MEG3 CCBE1 RAB23 FKTN FGF8 RTL1 RIPPLY2 B3GLCT ERCC4 BRAF NOTCH2NLC FANCF MSX2 DLL3 RUNX2 ZSWIM6 NSUN2 TRIM36 KCNQ1OT1 BMPER EP300 H19 ARVCF IGF2 BRCA2 MTRR COLEC11 FLI1 FANCC CHN1 CREBBP MAP3K7 NF1 POMGNT1 ARID1A CSPP1 BMS1 BAZ1B ELN LMX1B TMEM216 FREM2 FANCL GMPPB SLC25A19 VANGL2 CUL7 UBE2T RFWD3 SMARCC2 FANCG FANCA RAF1 MAD2L2 LFNG DLL4 SMARCB1 OFD1 B3GALNT2 RORA PSAT1 RBM8A HP_DECREASED_LEVEL_OF_GABA_IN_SERUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LEVEL_OF_GABA_IN_SERUM A2M PLAU APP HFE MPO NOS3 HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE BCKDHA HMGCL PCCB PAH PCCA BCKDHB DBT HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE KRT8 KRT18 KRAS SMAD4 STK11 TP53 HP_PHYSICAL_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHYSICAL_URTICARIA IL12A CARMIL2 SPIB MMEL1 IRF5 TNPO3 TNFSF15 IL12RB1 SERPING1 PLCG2 POU2AF1 HP_HIPPOCAMPAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIPPOCAMPAL_ATROPHY RNU4ATAC ABCA7 CAMTA1 CPA6 GRM7 NEK1 HP_HYPERKETONEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKETONEMIA PHKG2 COX6B1 PHKA2 GCDH SLC37A4 HP_ABNORMAL_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGA_LEVEL JAK3 CR2 IL7R IL12A ITCH PMM2 PIK3CD IVNS1ABP CASP8 ATM TNFRSF13B FAS IL2RG CD19 MVK RNF168 CASP10 PIGT CAVIN1 ICOS POU2AF1 CTLA4 RAG2 TNFRSF13C SPIB CD3E CCND1 MTOR RASGRP1 DCLRE1C TCN2 AICDA MMEL1 CD40LG IKBKG FASLG NLRP1 CD40 IRF5 TNPO3 TNFSF15 WAS CD247 PSMB8 OTULIN CD3D PGM3 STING1 RAG1 PRKCD LRBA BACH2 IL2RA KNSTRN ADA DNMT3B BLM CSNK2A1 PLCG2 CARD11 IL12RB1 UNG HP_ABNORMAL_CIRCULATING_IGE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGE_LEVEL IL7R PGM3 IL6ST CD40 IRAK4 WAS CD247 RASGRP1 IL4R CDSN PLA2G7 IL6R IL2RG FOXP3 COL7A1 DOCK8 SPINK5 CASP10 TGFB1 MS4A2 NSMCE3 FAS KRT1 EXTL3 KRT9 CARD9 PRKCD NCKAP1L STAT3 BACH2 ADAM17 IL2RA ADA CD40LG GPC4 GPC3 TYK2 STAT5B FASLG HP_ABNORMAL_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGG_LEVEL JAK3 CR2 IL7R PMM2 EPG5 PIK3CD IVNS1ABP CASP8 CXCR4 ATM FAS IL6R IL2RG TONSL CD19 SPINK5 RNF168 CASP10 ICOS CTLA4 EXTL3 RAG2 TNFRSF13C TNFRSF13B CD3E SON NCKAP1L RAC2 CCND1 RASGRP1 DCLRE1C TCN2 AICDA VPS33A CD40LG ERCC2 IKBKG RAG1 CTPS1 FASLG PGM3 NLRP1 CD40 CD247 B2M PSMB8 CD3D TGFB1 SP110 SLC5A6 STING1 PRKCD LRBA CNBP BACH2 SH2D1A KNSTRN IFNGR1 ADA BLM CSNK2A1 XIAP UNG ITK HP_ABNORMAL_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGM_LEVEL JAK3 CR2 MST1 IL12A PIK3CD IVNS1ABP CASP8 FAS IL6R IL2RG MYD88 CD19 RNF168 CASP10 PIGT NSMCE3 ICOS POU2AF1 CTLA4 EXTL3 RAG2 TNFRSF13C SPIB TNFRSF13B RASGRP1 TCN2 VPS33A MMEL1 CD40LG IKBKG FASLG PGM3 KLHDC8B CD40 IRF5 TNPO3 TNFSF15 WAS CD247 LAMTOR2 OTULIN RAG1 PRKCD LRBA CNBP BACH2 SH2D1A KNSTRN RAC2 IFNGR1 ADA DNMT3B BLM XIAP PLCG2 TCF4 CARD11 GPR35 IL12RB1 UNG HP_CHRONIC_NEUTROPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_NEUTROPENIA LRBA EFL1 SBDS DNAJC21 FIBP SRP54 HP_TRANSIENT_NEUTROPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_NEUTROPENIA CLPB IRAK4 EFL1 SBDS DNAJC21 FIBP SRP54 HP_BRAIN_IMAGING_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_IMAGING_ABNORMALITY ACAT1 TRAF7 TERT SURF1 APOE USP7 GAMT MAPT SMARCE1 HSD17B10 TREM2 VCP SLC6A8 BTD COG8 GRN MT-ND1 PSAP VPS33A NF1 PHACTR1 MT-TF ATP10A RAI1 NDUFAF3 MAGEL2 IARS1 SLC6A1 MT-CO3 ABCC8 APC2 CREBBP TREX1 TMEM106B GATM MT-TQ CACNA1G C9orf72 SNRPN SIN3A MT-CO1 SUFU MTHFR PSEN1 EP300 BAP1 MT-TS2 EHMT1 SMARCB1 DNM1L PSEN2 DYRK1A ASPA CHD2 CHMP2B SQSTM1 MT-ND5 NF2 CDC42 ATN1 PDGFB DEAF1 SLC35A2 AP2M1 NDUFB8 NSD1 FOXP1 KCNJ11 SIM1 ACP5 MT-ND6 KMT2C WDR26 POLR3A AKT1 SETD2 MT-TW COQ2 CNP HMBS GRM7 MT-TL1 NGLY1 C12orf65 NDUFS2 PURA MT-TH TBCK MT-ND4 SATB2 SUCLG1 RERE PIK3CA HPDL GALC UBE3A MT-CO2 SCO2 TBL1XR1 SMO PDP1 HP_PEDIATRIC_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDIATRIC_ONSET LYST EXT2 TUFM PCK1 GPHN SCN9A GUCY2D MCOLN1 COX6A2 CHD3 IL6R IL2RG DHPS COL6A1 ADAR AP1S2 RORC FARSB CCDC115 BCS1L ACOX1 CFI NCKAP1L MED13L NDUFA13 ACP5 MYH7 COL1A1 NDRG1 LITAF TNPO3 VARS2 PAK1 CYP2R1 PRF1 SCNN1G TCF3 UPB1 FRMPD4 PSMB8 OTULIN SMPD1 GTPBP2 RPS19 PCDH15 CCT5 HAX1 PLCE1 SLC4A11 AFG3L2 ERCC4 COX4I2 MTR RETREG1 KIF3B HPDL SLC35A1 RPS26 GARS1 LIMS2 MRPS7 NLRC4 GAN SACS SPR TBCE CC2D1A PIGP ADGRG1 GFI1B TNNI3 ABCB7 NKX2-1 NLRP3 ADCY5 COG2 ALAS2 SPTAN1 QDPR GNB1 NCF2 STXBP2 ATP8B1 PET117 NLGN4X LCK EIF2AK4 GLB1 ADNP CHRND ADGRV1 LIPT1 TXN2 DYNC1I2 EIF2B2 AIFM1 IKBKB RUSC2 COL6A3 CPLX1 SCN1A CHST6 FKTN UVSSA WDR26 HIKESHI GPAA1 PMP22 TTI2 POMT1 EIF2B3 DOK7 KRT86 KITLG ADD3 FLG NLRP1 MECP2 TPP1 FRMD7 HERC2 AIRE MTHFR IGLL1 PSPH CUX2 MAST1 TMPRSS3 MTFMT CFH GRIK2 MEFV HSD17B10 NARS1 PSAT1 NARS2 SPECC1L HNF1A YME1L1 HIVEP2 SGCA TACO1 NEB DDHD1 RPS28 GATA1 SIL1 CTNS NEMF TPM3 PRX GFPT1 COX10 GLA CHRNE SBF2 GRIN1 SYNE1 TSHR GNAS PCDH12 MAGT1 FMN2 VPS45 SLC46A1 POMT2 RFT1 SELENON MVK CHD1 ABCB11 CBLIF GABRG2 SMPX FXN CEP78 MRPS2 MPZ GRM1 CARD14 CARMIL2 CEP104 TMEM94 NDUFAF1 PDE10A PANK2 SETD1A AAAS GJB2 DOCK8 POLG POMC WDR73 MUSK XPC SPG11 STAT3 ITPA KATNB1 AUH TREX1 FGD4 EIF2AK3 ELANE PTS FZD4 CPT2 GCH1 SLURP1 DLAT GATM TBC1D24 NFKBIA IL36RN SLC5A6 ATP6AP2 SCNN1A FERMT3 TMEM67 AASS RASGRP2 LARGE1 TTN HABP2 PCDH19 PDP1 GJC2 SNX14 YWHAG NEFL ITPR1 PLP1 L2HGDH FLVCR1 C12orf57 SLC34A3 PIGK RYR1 PEPD CHRNA1 SFTPB MPV17 COX20 HSD17B4 YIF1B EGR2 TSC1 TNFAIP3 PRNP KCNMA1 MLC1 AMMECR1 MMAA GABRB1 NCF1 GDAP1 TRAPPC9 NDUFAF8 CXCR4 IDH3A CDKL5 KDELR2 GPD1 ASAH1 SLC25A26 MACF1 GJB3 RNASEH2A PLEKHG2 MMACHC ARV1 RDX DAG1 EDC3 EXT1 SCN3A DDX3X HCFC1 WDR81 NBAS CTNNB1 LACC1 OPHN1 RNASET2 GEMIN4 BLNK ZAP70 VDR NR3C2 CARD11 TRNT1 CD247 BCORL1 SLC19A3 PRMT7 TRAC IREB2 RPS29 CD164 KRT81 SDHA SCN4A NTRK1 F2 PDHA1 KCNQ2 IMPDH1 TNFRSF4 PIGT HEPACAM KIDINS220 LRPPRC CLDN16 ASXL2 SCNN1B S1PR2 F13A1 ERCC8 PHKG2 NFE2L2 KCNA1 SLC12A3 POLA1 NDUFS4 PGAP3 CD3E DNAAF4 MFSD8 ATP6V0A4 EIF2B1 DPAGT1 VPS37A JAK3 ACO2 ALG11 KCNB1 MYO5A TIMMDC1 NDUFB9 CAVIN1 DOCK7 MYMK RPSA FLNA PIK3R1 SCN2A CTC1 KIF1A VPS53 DDC RAB27A GAD1 DIAPH1 SLC25A12 UFSP2 IL21 SI TUBB6 SLC6A5 CYB5A NDUFS2 RAG1 MARCHF6 TRIOBP ADK SLC33A1 FOXRED1 ZNF462 ASH1L HIBCH LAMA2 GLRA1 CACNB4 COL1A2 RPL35A SLC52A3 NKX6-2 ZSWIM6 ADAM22 NDUFV2 NLGN3 LMNB2 CD3D DNM2 PTPRQ UMOD EMD CAV1 ABCB4 ABCD3 MAGEL2 WDR45B LMNA AKT1 PNPLA8 CRB1 LAMA3 JPH1 MRPS25 HYDIN GATAD2B NDUFB8 KCNH1 COQ6 IGHM SEPSECS COL9A2 IFT140 KCNA2 HNRNPU NDUFA10 SLC10A2 EEF1A2 PNPLA6 POMK KDM5B PINK1 COX5A ERCC6 COL6A2 ARG1 SLC6A3 PRKDC ZMIZ1 SLC2A1 FAM126A TCTN2 BSCL2 GLRB APC2 CORO1A DYNC1H1 DCX NLRP12 ALDH5A1 NAGA ATP7A PNP LMAN2L PET100 MMP2 ISCA1 TUBGCP2 BRAT1 KCNJ10 CASP10 SAR1B SNAP29 ABCA4 CA12 TRPM6 TRPA1 CFB SARS2 BOLA3 CNP NDUFAF6 DCDC2 WT1 ADAT3 SNRPN DHX30 SASH1 GRID2 KRT83 TGFB1 ROR1 CYBB PNKD KCNT2 RAG2 WARS1 AIMP2 STX11 CD59 SUCLG1 VAMP2 SPTBN2 DEAF1 NAGLU SGCB MRPL44 PLA2G6 TLK2 PRDX1 ITGA7 UQCC2 ADSL LDHA SAMD9 SLC7A7 DNAAF5 PHIP CTDP1 PPP2CA LCA5 GFAP GALNT3 LRP5 CYBA SPART WNK1 SYNE2 TBL1X EARS2 SLC35A2 SRD5A3 GABRB3 COL9A1 ZNF142 PRPS1 SLC6A8 ATPAF2 EIF2B4 PLEKHG5 DARS1 COLQ NEUROD2 MIPEP DDOST JAG1 GALNS ALS2 ALG13 P4HTM CLCN1 TMTC3 SLC39A4 MFF MIEF2 ACTL6B NGF CLPX TRPV4 LMBRD1 COA8 SUCLA2 SOST EIF2B5 SLC25A38 GJA1 EPO ILDR1 CD79B TRMT1 RERE PMPCA MTX2 NDUFS1 TBR1 NPHS2 PSAP NUP214 NDUFV1 FRG1 CUBN PTCHD1 CHRNA4 PLCG2 CLCN7 MTRR HUWE1 MMADHC TRAPPC2L SH3BP2 KLHL7 ISCU CYP3A4 ACOX2 FECH VPS33A CLIC5 RINT1 PLG TBX19 AGK APTX HPCA ADA2 GRIN2D SYT1 VAMP1 PARN BCL10 HNMT HEXA METTL23 DLG4 MYH9 TGM3 BRF1 TMX2 SGCE SLC12A5 TACSTD2 NGLY1 MTOR PUS3 TH TRIT1 PAX2 WAC KMT2E ACADSB OCRL GP6 MFN2 FOXP1 CAD RANBP2 TPM2 DMD TET2 RUBCN VARS1 SPEG CACNA2D2 SLC18A2 CWF19L1 TK2 ATP2B3 ARFGEF2 EBF3 TSC2 TIMM8A PYGM DPM1 ITK ATAD3A SVIL HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL EFL1 CNOT1 SBDS DNAJC21 SRP54 HP_NEGATIVISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEGATIVISM APOL2 MTHFR APOL4 HTR2A DRD3 SYN2 COMT RTN4R CHI3L1 DAOA HP_HYPERPLASIA_OF_THE_MAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPLASIA_OF_THE_MAXILLA WDR26 AP2M1 HBB SOX5 ZBTB11 HP_ABNORMAL_CARDIAC_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_TEST PPCS TRPM4 SCN1B KCNQ1 TRDN CDKN1A GMPPB CALM3 NKX2-5 CACNA1C KCND3 CAV3 SCN5A FXN GPD1L CAVIN1 MECP2 KCNE2 CALM1 SNTA1 CDC73 STX16 SCN2B CYP17A1 CDKN2C TBX20 GNAS DNAJC19 RRM2B HADH ACTC1 SEMA3A TTN CACNB2 MYH6 CYP11B1 GPC4 FBN1 TWNK KCNE1 DBH ACADVL CDKN2B SCN10A AKAP9 PSMD12 NPPA NEU1 SCN4B MEN1 MYL2 TMEM43 ANK2 GATA6 KCNE3 SCN3B DMD DCAF17 KCNJ8 CACNA1S TANGO2 BPTF SRY KCNH2 GPC3 POLG BRF1 DMPK CDKN1B KCNA5 GABRA3 NOS1AP TECRL ABCC9 ALG10B PKP2 CALM2 CLCNKB KCNJ2 KCNJ5 GTPBP3 GAA PRKAG2 POLG2 TLL1 GYG1 TNNC1 SLC12A3 HCN4 CITED2 KCNJ18 ALPK3 TNNI3K LAMA2 SLMAP DYSF JUP SCNN1A RANGRF GNB5 GATA4 CACNA2D1 MT-CYB MYL3 KCNE5 PHOX2B SLC25A4 SVIL HP_PERIPAPILLARY_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPAPILLARY_ATROPHY POMGNT1 COL4A1 COL18A1 SCAPER ZNF408 TUB B3GALT6 MMP19 HP_FOOD_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_ALLERGY PGM3 SPINK5 JAK1 CNTNAP2 IL6ST SOX6 NRXN1 FOXP3 RBM8A HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL RET GDNF RYR1 CACNA1S ASCL1 PHOX2B EDN3 HP_HYPERGASTRINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGASTRINEMIA MEN1 CDKN2C CDKN1B CDKN1A MCOLN1 CDKN2B HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION PET117 PDHX DLAT PDHA1 LONP1 NDUFA4 GLUL ALDH5A1 HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION PET117 PDHX DLAT PDHA1 LONP1 NDUFA4 HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY NFIX KCNJ2 GNAI3 EDN1 PLCB4 HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY CHAT SLC25A1 MYO9A VAMP1 SNAP25 COL13A1 SLC5A7 SLC18A3 AGRN SYT2 HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR MGP ENPP1 PLCB4 ZNF462 ZBTB20 TWIST1 ABCC6 FGFR2 EDN1 FGFR3 GNAI3 TCTN3 HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL CLIP2 TBL2 SMPD1 FZD4 BEST1 IGFBP7 PCSK9 TBX1 NEU1 CYP1B1 LRP5 ABCC6 GP1BB TULP1 COL4A1 ARVCF ABCG5 MT-CYB COMT UFD1 MT-ND4L POLR3A GM2A ELN PSAP MLXIPL NF1 LDLRAP1 LDLR MT-ND5 SELENOI BAZ1B PTDSS1 HEXA LIMK1 GLB1 HEXB CTSA ASAH1 SEC24C ABCG8 MT-ATP6 ENPP1 HOXA1 MT-ND4 GTF2IRD1 GTF2I NDE1 MYOC RREB1 MT-CO3 MT-ND2 PRPF3 NEK1 RFC2 TMEM231 MT-ND1 HIRA JMJD1C MT-ND6 ANTXR1 GALC NDP APOB HP_ABNORMALITY_OF_ODONTOID_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ODONTOID_TISSUE TMEM165 CLIP2 LAMB3 COL17A1 RELT ITGB6 ERCC4 RNF113A ERCC6 PTDSS1 ENAM TBX1 IFT122 ZNF469 AMELX ELMO2 APC FAM20A COG6 NECTIN4 ATRIP CEP152 NUP133 ATR DLX3 UFD1 CYP27B1 WDR35 B3GALT6 RBBP8 OCRL FAM20C SEC24C ITGB4 MYO7A CNNM4 GTF2E2 GTF2IRD1 CENPJ GTF2I DNAJC21 MMP20 AMTN TNFRSF11A ORAI1 RREB1 IKBKG PTEN TBCE SEC24D RFC2 LAMA3 WHRN GNAS CLDN1 HIRA PLEC USH2A KRT14 CDH23 TSC1 FGF10 DSPP TBL2 LIFR FKBP10 USH1C GLB1 PPIB GP1BB COL1A2 ADGRV1 LRP4 FAM83H PHEX LAMC2 ERCC1 LIMK1 COL1A1 MPLKIP ANAPC1 MBTPS2 AIRE CCDC8 CYP2R1 KRT5 CIB2 PLK4 CLEC7A WDR72 FGFR3 DHCR7 CENPE TRAIP JMJD1C TRAF3IP2 KLK4 PEX6 USH1G RECQL4 SMOC2 GALNT3 IFITM5 FGFR2 ERCC3 PCNT TP63 POLR1C DDX59 STX16 COMT HRAS ALDH3A2 PDZD7 PDE4D PIK3R1 PCDH15 OFD1 PORCN GALNS GJA1 IFT43 STIM1 RUNX2 ACP4 SLC13A5 WDR19 IL17RC ODAPH CUL7 LONP1 ERCC2 TARS1 ESPN MMP1 FERMT1 AKT1 GTF2H5 PEX1 COX7B IL17RA NF1 TCIRG1 TRIP11 EP300 ERCC8 ARVCF NDUFB11 OBSL1 ROGDI IFT52 RHOA KCNJ2 SERPINH1 IL17F TTC7A CREBBP FLNB COL7A1 FGF3 LTBP3 TCOF1 ITGA6 BAZ1B VDR NECTIN1 ELN PIK3C2A GRHL2 POLR1D SLC10A7 HCCS SLC29A3 SLC24A4 AMBN P4HB CLDN19 HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY NF1 LDLRAP1 LDLR ABCG8 NDE1 APOB PCSK9 ABCG5 HOXA1