HP_MULTICYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTICYSTIC_KIDNEY_DYSPLASIA PAX2 RSPO2 PEX14 PORCN WNT3 DHCR7 NPHP3 CEP57 PEX11B INPP5E IFT27 PEX16 BBS10 SDCCAG8 TBX18 GPC3 SIX5 EYA1 CPT2 TFAP2A BBS9 CEP55 B9D2 LHX1 MYH11 BBS2 WDPCP AMER1 NIPBL MYLK HNF4A SALL1 BBS7 BBS5 SIX1 PEX1 CC2D2A GREB1L LZTFL1 PEX5 KAT6B PEX6 TRIM32 HNF1B PEX26 ROR2 GRIP1 TRIP13 MKKS TMEM216 BBS1 CHRM3 BUB1B SMC3 CSPP1 PEX19 OFD1 SETD5 NXN HOXD13 TCTN2 RPGRIP1 LMOD1 MKS1 PIEZO2 TMEM67 PEX10 FLI1 GPC4 FRAS1 ARL6IP6 FREM2 BBS4 C8orf37 SNRPB NPHP1 RAD21 MCTP2 ARL3 BUB3 PEX13 CEP290 PIGN RPGRIP1L BUB1 KMT2A PEX12 B9D1 ARL6 ACTG2 BBIP1 VHL HDAC4 FIBP TMEM231 PEX3 B3GLCT IFT172 TMEM107 MBTPS2 PEX2 SMC1A HDAC8 BBS12 CD96 TTC8 HP_RECURRENT_URINARY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_URINARY_TRACT_INFECTIONS EFEMP2 STAR RFXANK FANCE LIMK1 FANCM RFC2 ERCC4 BICC1 IL17F IL17RC FANCL GANAB GTF2I RFWD3 HPSE2 ELN MC2R BRIP1 CLIP2 CRKL ATRX CIITA SAMD9 SLC7A9 CFI WASF1 BTK FBLN5 RFX5 PKD2 NNT BCR RAD51C BRCA2 FOXC2 HOXA13 FANCF ADNP AGXT LRIG2 WFS1 GRHPR PKD1 SLC3A1 BRCA1 CHRM3 SHANK3 MRAP TRAIP MSN HSPA9 FANCG IL2RB MAD2L2 SLX4 CLDN16 FANCC MAN2B1 MLXIPL TBL2 PEPD FANCI ARL3 MNX1 POLR3A FANCD2 IL17RA TP63 FANCA MAPK1 EXT1 TRPS1 BAZ1B XRCC2 NBN CISD2 CLDN19 TXNRD2 PNP FLVCR1 ATP7A RFXAP UBE2T APRT BNC2 SLC46A1 CLEC7A KCTD1 THOC6 TRAF3IP2 GTF2IRD1 ISL1 PALB2 FANCB TNXB RAD51 HP_NEUROGENIC_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROGENIC_BLADDER MAP3K7 VPS11 TRAPPC12 TBCK GBE1 GJA1 ACER3 PEX3 FBXO7 ATXN3 COG7 ARNT2 ELOVL1 VANGL1 FARS2 MNX1 SNCA TBCD COG5 ATP13A2 MTFMT WFS1 CISD2 HP_URINARY_URGENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_URGENCY MAPT CACNA1G ZFYVE26 GBA INHBA HSPD1 B4GALNT1 MARS2 SNCA NIPA1 REEP1 SPAST ATXN10 ATL1 SACS TRPV4 SPG7 ADH1C SPG11 SNCAIP UBAP1 NR4A2 ATXN2 ALDH18A1 KIF5A KCNC3 LRIG2 WASHC5 PINK1 LMNB1 RTN2 TBP COQ2 ATXN8OS CPT1C GLUD2 FA2H HP_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_UTERUS CHD7 NR5A1 FGFR1 ESR1 GNRHR WDR11 KISS1 TAC3 HCCS FOXL2 PROKR2 ANOS1 IRF6 NIN STRA6 LARS2 CLPP KISS1R B3GLCT SPRY4 CYP17A1 TACR3 COX7B FGF17 BMP15 DHH GNRH1 NUP107 CYB5A FIGLA PROK2 ERAL1 FGF8 NSMF CYP11B1 DCAF17 NDUFB11 SOHLH1 HNF1B WNT4 HS6ST1 DUSP6 MRPS22 BMPR1B HP_ABNORMALITY_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BLADDER PDGFRB NKX2-1 VPS11 DNAJC13 LIMK1 MARS2 CLCN4 HAAO KRAS FMR1 PSAP GBA SOX17 REEP2 AFF4 COG7 DNM2 SIX5 ELN STIL COL1A2 PINK1 SACS TBP RRM2B WASHC5 MTFMT MYLK RAB39B MYRF SALL4 DBH ARHGEF6 PAX6 SNCA HLA-DRB1 ITGA6 CEP135 KANSL1 BPTF NCAPG2 NR4A2 KNL1 ATP7A ELOVL1 AGXT LRIG2 GIGYF2 GJA1 HLA-B ARX MORC2 AKT1 SDHB HLA-DQB1 COQ2 ATXN3 IL1RAPL1 SHANK3 SIX1 CDK6 DSTYK CACNA1G CHST14 HSPA9 REEP1 GBE1 STUB1 GABRG2 RAD21 UBAP1 ALDH18A1 KIF5A TIMM50 MNX1 PIGN ARVCF RPS6KA3 MID2 AQP2 ATRX RERE ARSA WFS1 DSE FANCI EXT1 FA2H IGHMBP2 DDHD2 MKKS CISD2 WNT4 FAM20A TSPAN7 PHC1 IGF2 STAMBP BNC2 ATXN8OS SUFU NEXMIF FARS2 LTBP4 SMC1A AVPR2 GTF2IRD1 UFD1 SDHD NF2 ZFYVE26 HNRNPA2B1 HACE1 MAPT EFEMP2 DARS2 COL18A1 FREM2 AP5Z1 RFC2 PSMD12 SDHAF1 SMO SNCAIP LRRK2 CCNQ ARNT2 HPSE2 SLC5A2 PRDM8 VANGL1 KIF1A BAP1 EYA1 SPG7 ATXN2 CLIP2 COMT POR GABRA1 ACTG2 PEX11B DNMT1 JMJD1C NCAPD3 GJC2 STAT6 BICC1 HIRA IQSEC2 DKK1 CENPJ CCND1 PAX2 TRRAP NFIA STK11 COL7A1 ZNF41 CHRM3 RYR1 KIF14 EHMT1 CDH11 GALC TRAPPC12 HSPD1 ZNF711 SASS6 MKS1 ALMS1 MTMR14 GRIP1 FKBP14 FBXO7 SYP KCNQ1OT1 PLP1 KCNC3 GDI1 STRA6 FUS POLR3A SLC9A7 NSD1 TBX1 PBX1 CDKN1C KMT2A TRPS1 NOTCH3 NIPA1 TNXB KCNJ18 KCND3 CDC45 SEC24C ATL1 ANKLE2 KCNQ1 PEX3 EIF4G1 NBN SLC2A1 PRMT7 RTN2 SLC25A4 SMAD3 ISL1 MED12 HDAC8 CCL2 HNRNPA1 DLG3 ATXN10 NAB2 TRPV4 ADH1C SLC1A4 SLC25A13 GBA2 CHMP2B PDGFB FTSJ1 MCPH1 CDK5RAP2 UPF3B ERLIN2 HOGA1 MYH11 NIPBL SALL1 HCFC1 CHD4 PLOD1 B4GALNT1 TBCK FBLN5 PIK3CA GREB1L ITGB4 CACNA1H MYF6 SPG11 SLC9A6 CXorf56 MBTPS2 RREB1 AUH SBF1 HOXA13 SEMA3E ADNP PIK3R5 PAH CHD7 GPR101 SPAST ABCD1 SMC3 PLEC PDCD1 LMOD1 PPP3CA FUZ ASXL1 TAF13 MAP3K7 IFT57 MLXIPL AIP HTRA1 CAPN1 ALS2 RECQL4 COL3A1 SP110 FXN MFSD2A IKZF1 APC2 CNKSR2 PIGA TP63 ROBO2 ATP13A2 BIN1 UBE2A POLG ASPM CEP63 POLG2 BAZ1B CCBE1 VPS35 HS6ST2 CYP7B1 MECP2 TRAF7 PIGO SCN9A APRT GP1BB SLC12A3 FLNA SIGMAR1 MAP11 CPT1C TYROBP PTCHD1 ACSL4 PANK2 NRIP1 JAG1 SLC16A2 DACT1 TWNK DYSF TERT TTR SDHA GTF2I STAT1 CACNA1S FGFR2 WDR62 USP27X RAC2 CLCNKB PYCR2 METTL5 COG5 VCP RNF168 SH2B1 INHBA NPHP3 RETREG1 SQSTM1 ALG13 ACER3 AGTR2 PUF60 PAK3 SMARCB1 HEXB SPART VANGL2 RARB PRNP JRK GABRB3 C19orf12 EBF3 DPH1 SETD5 CEP152 FRMPD4 HNRNPU TRIO SLC20A2 TBL2 HMBS DMD LMNB1 TBCD CFAP43 COPB2 GATA3 TBXT UPB1 ATXN1 UMOD KCNJ10 SMARCE1 WWOX FLVCR1 USP9X HPRT1 RPL11 SETD2 TGFB1 CIT ZNF81 SETX GLUD2 GABRA3 HP_BLADDER_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_DIVERTICULUM EFEMP2 TP63 ATP7A ELN PLOD1 LIMK1 RFC2 SALL4 BAZ1B COL1A2 FBLN5 LTBP4 GTF2IRD1 CLIP2 FKBP14 MLXIPL GTF2I COL3A1 TBL2 HP_URINARY_RETENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_RETENTION SP110 HMBS APRT BNC2 VANGL1 KCNJ18 ACTG2 PRNP STAT6 TGFB1 NAB2 ALDH18A1 COL7A1 CACNA1S GABRA3 HP_NOCTURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURIA SLC25A4 SLC12A3 RRM2B DBH TWNK POLG2 POLG CLCNKB HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA RNF43 AMHR2 PTEN CCND1 PHF6 ZFHX3 EPHB2 BMPR1A NAB2 GREM1 APC RAD50 TP53 RAD51D RAD51C EP300 MXI1 BTK ADGRG2 CTLA4 CHEK2 SRCAP MAD1L1 AR RNASEL VHL HNF4A MRE11 SRY DHH AMH CDH1 SOX9 UNG STAT6 BRIP1 KLF6 HLA-DPB1 BARD1 HNF1B HLA-DPA1 PTPN22 CREBBP NR5A1 BRCA1 NKX3-2 NBN BRCA2 PRTN3 RAD51 HGD CFTR PALB2 HP_INGUINAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INGUINAL_HERNIA RIPPLY2 LIMK1 GLRA1 YWHAE KIF7 PAFAH1B1 ARID1B MAPRE2 ARX GPC3 FGFR1 HES7 TGFB3 TGFB2 ELN NAT8L GUSB SRCAP PYCR1 SLC10A7 PORCN MED25 GNE GLI3 CHRNG TTC37 FZD2 HSPG2 PLOD1 ZEB1 PRDM5 FBLN5 PIEZO2 PLOD2 AEBP1 RREB1 ATP7A DGCR8 PHGDH ADNP ROR2 MESP2 CC2D2A ADAMTS2 TMCO1 ATRX TBX1 NALCN SETBP1 ALDH18A1 NXN SMCHD1 FGD1 XRCC4 CHST14 AMHR2 ESS2 FARSB GALNS ACTA2 NIPBL SEMA5A TMEM107 TMEM67 P3H1 C1S FLI1 SMAD4 SLC2A10 GPC4 MAN2B1 PRKG1 MLXIPL GLB1 SUFU DVL1 COL3A1 FANCB H19 LDHD COL2A1 SKI RPGRIP1L ARVCF MBTPS2 TP63 C1R KLHL7 DGCR6 MAPK1 DSE ARSB BRF1 PTDSS1 NAA10 ATP6V0A2 BAZ1B FIBP B3GLCT SIN3A GNPTAB ASXL1 NPHP3 OCRL WNT5A NOTCH1 SHPK GP1BB LTBP4 GTF2IRD1 DVL3 UFD1 RIC1 MYH11 MYH3 MAF EFEMP2 PIGY NOTCH2 CHST3 RFC2 ATP6V1A NOTCH3 INPP5E RNF13 GTF2I GPHN MEIS2 SMAD3 BMPER MFAP5 LFNG ATAD1 BRAT1 LOX CLIP2 IRX5 CRKL POGZ COMT AP1S2 COL1A2 AR SKIV2L JMJD1C AMH EZH2 IGF2 TMEM70 CDC42 NEU1 AUTS2 HIRA BCR PUF60 TGFBR2 DIS3L2 COL5A1 FBN1 FLNA CTNND2 TGFBR1 IDS TRRAP NFIA PLD1 PIK3R1 DLL3 ABCD4 NSD1 DPH1 WDR35 OFD1 WASHC5 IDUA EHMT1 CCDC22 PACS1 B3GAT3 MED12 COL1A1 FKBP14 PPP2CA PPP2R1A SH3PXD2B SERPINH1 TBL2 TGDS CTCF FLNB SUZ12 DGCR2 ELOVL4 STRA6 GATA6 CLDN19 AGA SLC26A2 MYLK KCNQ1OT1 PIGS RPL10 COL5A2 WDR19 ATP6V1E1 CLCN4 CBS TUBB SPECC1L SEC24C MAT2A CUL4B KDM5B GDF1 FOXE3 ISL1 UBA1 SATB2 EED POLA1 TBX3 RPS6KA3 HP_PROSTATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATITIS HLA-DPB1 HLA-DPA1 PTPN22 BTK CTLA4 PRTN3 HGD HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA CFAP69 TAF4B FANCE RSPH1 CATSPER2 SPEF2 SPAG1 LIMK1 TEX15 DAZ4 HSFY1 MCIDAS FGFR1 DDX3Y FANCL RFWD3 FSHB LHCGR DNAH1 KISS1 MAP3K1 CFTR ELN ZFPM2 WWOX BRIP1 NR0B1 BPY2 CFAP221 STRC SPRY4 SLC29A3 DNAAF1 TACR3 RPGR ATM STK36 FGF17 DAZ2 DNAH9 DNAAF5 HFE BRDT ADGRG2 DHX37 OFD1 RSPH4A MEIOB MCM8 PROK2 NME8 GAS8 FANCF CCDC65 CFAP298 FANCM NR5A1 CFAP300 KLHL10 MRAP BLM RSPH9 FANCG ZMYND10 SLX4 KDM5D ANK1 FGFR3 SRY GNRHR WDR11 CCDC39 ARMC4 FANCI ANOS1 FANCD2 DNAI2 TTC29 FANCA TEX14 NEK10 PRY CDH23 NANOS1 BCL10 TSPY1 CDY2A AURKC BAZ1B XRCC2 DNAAF6 WFS1 CISD2 CDY1 CCDC103 DNAAF4 TXNRD2 GATA4 OCRL UBE2T DCAF17 CNBP HS6ST1 GTF2IRD1 FANCB RAD51 STAR SOX9 SYCP3 RFC2 ERCC4 BICC1 SOHLH1 FOXJ1 ZMYND15 RPS4Y2 GANAB GAS2L2 GTF2I KIT STEAP3 CCDC151 SUN5 TAC3 DNAL1 CATSPER1 MC2R PROKR2 CLIP2 KISS1R VAMP7 USP9Y AIRE PMFBP1 VCY SPINK2 SOX3 SYCE1 ARMC2 PKD2 DNAH5 SCP2 STK11 DMPK XKRY DAZ1 NNT RAD51C BRCA2 TTC12 AR PKD1 LHB DAZ3 WT1 DUSP6 RBMY1A1 DHH BRCA1 MEN1 LRRC6 TDRD9 POC1A DNAI1 DNAJB13 CCDC40 ALMS1 BMP2 HJV CHD7 MAD2L2 FANCC TBL2 NR3C1 CFAP410 SEMA3A TTC25 CEP19 DNAAF2 DRC1 DMRT3 POLA1 GBA2 RSPH3 SYCP2 CCNO AIP HYDIN GNRH1 EIF2S3 CTNS CCDC114 TEX11 LRRC56 FGF8 NSMF PRY2 HNF1B DNAAF3 ANTXR1 PALB2 DNAH11 HP_MALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_HYPOGONADISM TACR3 CDH23 AIP FGF17 SOX9 ALMS1 SOX3 CHD7 GNRH1 WFS1 FGFR1 CISD2 EIF2S3 CTNS DMPK FSHB PROK2 GNRHR FGF8 NSMF WDR11 NR5A1 KISS1 TAC3 PROKR2 ANOS1 SRY NR0B1 HS6ST1 KISS1R DUSP6 POLA1 DHH MEN1 SPRY4 AIRE HP_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTORCHIDISM TWIST1 PROKR2 KMT2D CTBP1 CHD7 PHF6 DAZ4 CCDC141 KCNAB2 TCOF1 ARID1B RAB3GAP1 TCF4 GPC3 PNPLA6 KISS1 RRAS2 CLP1 BRIP1 KRAS INSL3 ATRX MYLK STS DYNC2LI1 CBL SPRY4 TACR3 FGF17 GSC SHOC2 GLI2 PEX1 WDR35 CC2D2A NFIX RAF1 ANOS1 DGCR8 TRIM32 CCDC174 FGFR1 ORC6 HESX1 DAZ2 OGT TBX1 RNF113A TFAP2A SMCHD1 SEMA3E XRCC4 CHST14 AMHR2 RPGRIP1 CEP120 ESS2 BCOR HDAC8 CKAP2L MRAS SLX4 PEX10 ESCO2 MECP2 PTCH2 SUFU GNRHR CHRNG DVL1 WDR11 BRAF BBS4 SLC19A2 RAD21 NEDD4L DHODH CEP290 NALCN FANCA KDM6B KDM1A DGCR6 PEX12 DSE BRF1 RAB23 TSPY1 RAB18 SOX9 FLRT3 EVC2 XRCC2 TBC1D20 KISS1R TMEM67 NKX2-5 GMPPB TOE1 HYMAI ZFPM2 ALKBH8 FGFR2 OCRL SUZ12 EBP GATA6 WNT5A ATAD3A MAGEL2 ACTA2 GTF2IRD1 UFD1 LETM1 FANCB MEGF8 SNORD115-1 MYH3 WT1 FANCM FANCE ERCC6 GPC4 WDPCP DCC GPR161 EP300 HPSE2 DIS3L2 LFNG IRF6 ANKRD11 MAP2K2 SIN3A SNRPN PDE4D CLIP2 COMT AP1S2 POR CRPPA DOK7 SMAD4 SRD5A2 ERCC3 PEX5 ATP6V0A2 SOS2 HIRA DKC1 PAX6 SRY PTDSS1 STT3A CPLX1 RAC1 CREBBP OTUD6B TMEM94 NR5A1 LMBR1 DNAJC21 WDR34 DUSP6 CHRM3 SOS1 RERE EZH2 NSD2 GATA5 MKS1 PEX2 FZD2 MAD2L2 SIX6 DDB2 MED12 FGD1 GATA4 VPS13B PACS1 RIN2 DYNC2H1 PEX13 SMARCE1 DGCR2 STRA6 NAA10 SOX10 POLA1 PWRN1 PBX1 CDKN1C USP7 KMT2A BDNF HUWE1 CYP17A1 KCNQ1OT1 RPL10 ACTG2 ABL1 RIT1 CILK1 ARID2 TUBB CDC45 KCNQ1 TPM3 FAT4 NSMF PRKAR1A KDM5B ERCC4 ALG8 CDC6 RECQL4 POLR3A PALB2 PDE6D OTX2 DHCR7 KMT2E GPC6 MASP1 RTTN TCTN3 PPP1CB PEX16 A2ML1 SMARCD1 HES7 ERCC5 AXL RNU4ATAC KIF7 B3GLCT SALL1 SYNE1 PRDM16 HSPG2 BBS5 POMGNT2 TBCK GMNN DHX37 COLEC11 MYF6 ATPAF2 HS6ST1 MBTPS2 RREB1 LAS1L SELENON HNF1B STT3B MKKS TMEM216 PIEZO2 LRIG2 ALG12 GATA1 ACTB GLI3 PEX19 FANCC NXN BLM LMOD1 TBCE NKAP COG1 GJB2 WDR60 SMARCB1 FLT4 H19 PSMD12 KAT6B FANCD2 NF1 AEBP1 JAG1 CYP11A1 BIN1 RIPK4 RYR1 POLE BRWD3 DVL3 BAZ1B CCBE1 UBA1 GK SOX2 SMOC1 GP1BB POMT1 NONO BBS12 RAD51 ATN1 PEX11B ADAT3 LIG4 CDK8 IFT27 KIT SDCCAG8 MAP2K1 EXT2 SMC3 HRAS MUSK IRX5 ZBTB20 SEC23A SRA1 BBS7 COLEC10 USP9Y TAF6 TBX22 RLIM RAD51C PACS2 DNAJC19 AR CDC42 ERCC2 TBL1XR1 DLL3 BBS1 CD96 SETD5 JAM3 MYL2 LZTR1 MAP3K7 BMP4 SNORD116-1 MYOD1 RBMY1A1 DAZ1 TINF2 CNTNAP2 KDM5C CDT1 ATP6V1A CTCF C8orf37 SEMA3A NPHP1 PHIP GABRD POMT2 NR0B1 DMRT3 DAZ3 OFD1 GNRH1 NOTCH3 DPAGT1 TPM2 RRAS ZSWIM6 TP63 IFT172 ANKLE2 BUB1B CYP11B1 NFIB SETD2 KDM6A FEZF1 B4GALT7 PHACTR1 SMS GLE1 LIMK1 FMR1 SOX3 MPLKIP KLHL15 INPPL1 FANCL MAPRE2 DNM2 LARGE1 ELN FLNB STAG1 PWAR1 CEP55 ATR MED13L PORCN MYRF FGF8 FGFRL1 HSD3B2 NRAS MTM1 XPC SOX11 KANSL1 ERCC8 EVC PEX6 ROR2 POLR1D IGF2 SMARCA2 MRAP MTOR MYMK FLI1 FRAS1 FKRP TMEM70 C2CD3 PLAGL1 SKI MCTP2 CEP152 EMG1 ARVCF UQCC2 NDN B9D1 HBA1 PTPN11 BCL10 SLC18A3 UBR1 CPLANE1 CYB5A TSPYL1 UBE2T DHDDS CDON FARS2 SMC1A HNRNPK ARX ROBO1 XYLT2 NUP88 STAR PEX14 RBM10 RFC2 CDH11 ACTA1 SGPL1 BBS10 ARNT2 RAB3GAP2 BBS9 BBS2 VAMP7 OPHN1 FBLN1 JMJD1C VANGL1 GRIA3 LZTFL1 STK11 AUTS2 BRCA2 STXBP1 NELFA RXYLT1 NSUN2 POLR1C TRRAP CITED2 ASH1L BRCA1 CSPP1 ZEB2 EHMT1 PHF8 HOXD13 TCTN2 SOX4 TARS1 PLVAP MTMR14 SLC25A24 ALX4 ARID1A ATP6V1E1 PIK3C2A NSD1 B4GAT1 PPP1R15B ARL6 PIGS CLCN4 SPECC1L SEC24C CCDC22 TMEM107 PTCH1 FTO PRMT7 TTC8 RSPO2 RIPPLY2 SLC35D1 GDF1 PHGDH SMARCC2 G6PC3 IFT80 RFWD3 KMT5B MAP3K1 SRCAP WWOX LHX1 PYCR1 MYH11 NIPBL SAMD9 GTF2H5 CHD4 YY1 POLR3B HSD17B3 PROK2 HIBCH IL17RD FANCF ADNP LONP1 PEX26 TBX3 NPAP1 MESP2 HYLS1 SLC26A2 EIF2S3 FIG4 GTF2E2 ALDH18A1 KAT6A CYP19A1 FANCG DLX4 FUZ NRXN1 ANK1 FGFR3 FREM2 FANCI POMGNT1 PIGN APC2 ORC1 MCM5 UBE2A GJB6 SMARCA4 NDP HACD1 RPGRIP1L DDX3Y TXNRD2 ITGA7 HERC2 IER3IP1 RARB TRIP4 NKX2-6 DPF2 RAPSN MAF CUL4B WNT3 DACT1 MBD5 NNT FAM149B1 WNT7A GTF2I MID1 XPA LMX1B TAC3 MC2R RASA2 B9D2 COG5 ZBTB16 COL4A1 AMH STAC3 KIAA0753 DNMT3A CDCA7 GLI1 ORC4 GRIP1 MKRN3 AFF4 EBF3 SCYL2 ABCD4 POMK AKR1C4 DAG1 TBL2 TGDS POLD1 RNF135 FLNA AKR1C2 NOTCH2 GJA5 VAC14 EFNB1 FKTN BBIP1 B3GALNT2 TMEM231 FBN1 PEX3 LHX4 MAP3K20 MAMLD1 EED FXR1 COL3A1 HBA2 HP_TESTICULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_ATROPHY SMS NHP2 DMPK AR POLG HPRT1 ANOS1 BMP2 HFE TEX11 TP53 WFS1 FSHB HP_AMBIGUOUS_GENITALIA_MALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_MALE HSD3B2 SRY DHCR24 SRD5A2 MKS1 POR WT1 CYP17A1 SC5D TBX15 CYP11A1 TSPYL1 CYB5A HP_HYDROCELE_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCELE_TESTIS VEGFC SOX18 ADAMTS3 MECOM PTEN PIGN PIEZO1 PIK3CA FLT4 AKT1 EZH2 GJC2 PEX11B HP_ABNORMAL_TESTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TESTIS_MORPHOLOGY TAF4B TWIST1 PROKR2 KMT2D CTBP1 CHD7 PHF6 DAZ4 CCDC141 KCNAB2 TCOF1 B4GAT1 ARID1B PTEN REEP6 RAB3GAP1 KIAA1549 TCF4 GPC3 PNPLA6 KISS1 RRAS2 CLP1 MEFV UPF3B BRIP1 KRAS INSL3 ATRX MYLK STS DYNC2LI1 CBL SPRY4 DMRT1 TACR3 FGF17 GSC SHOC2 GLI2 RDH12 HCCS PEX1 WDR35 CC2D2A CCR1 NFIX MEIOB RAF1 ANOS1 DGCR8 TRIM32 CCDC174 FGFR1 FAM111A ORC6 HESX1 DAZ2 OGT TBX1 RNF113A TFAP2A SMCHD1 SEMA3E XRCC4 CHST14 AMHR2 RPGRIP1 CEP120 ESS2 SLC7A14 BCOR HDAC8 CKAP2L MRAS SLX4 PEX10 ESCO2 MECP2 PTCH2 NR5A1 AGBL5 WRN SUFU GNRHR CHRNG DVL1 WDR11 BRAF BBS4 SLC19A2 AGA RAD21 NEDD4L C4A RSPO1 DHODH CEP290 NALCN BEST1 FANCA KDM6B KDM1A DGCR6 WFS1 PEX12 DSE BRF1 RAB23 TSPY1 RAB18 SOX9 FLRT3 EVC2 XRCC2 TBC1D20 KISS1R TMEM67 DICER1 NKX2-5 GMPPB TOE1 HYMAI ZFPM2 ALKBH8 FGFR2 OCRL SUZ12 EBP DCAF17 GATA6 WNT5A OFD1 ATAD3A TINF2 MAGEL2 ACTA2 ARL6 GTF2IRD1 UFD1 LETM1 FANCB CDHR1 FAS MEGF8 SNORD115-1 MYH3 WT1 CNGA1 FANCM DHDDS FANCE ERCC6 FLT4 GPC4 WDPCP DCC GPR161 EP300 HPSE2 DIS3L2 LFNG NEK2 IRF6 ANKRD11 MAP2K2 SIN3A SNRPN MAK CUL7 PDE4D CLIP2 BBS2 COMT SYCP3 AP1S2 POR PEX11B CRPPA DOK7 IL23R SMAD4 SRD5A2 ERCC3 ERAP1 C8orf37 PEX5 ATP6V0A2 SOS2 DMPK HIRA DKC1 LEP GJC2 AKT1 CERKL PAX6 SRY PTDSS1 STT3A CPLX1 RAC1 CREBBP OTUD6B TMEM94 LMBR1 DNAJC21 STK11 WDR34 DUSP6 SYCE1 CHRM3 SOS1 RERE EZH2 CBX2 TERT NSD2 HLA-B GATA5 LEPR MKS1 PEX2 FZD2 MAD2L2 SIX6 DDB2 MED12 FGD1 GATA4 VPS13B PACS1 PRPF4 RIN2 DYNC2H1 TUB PEX13 SMARCE1 TTC8 DGCR2 STRA6 NAA10 SOX10 POLA1 PWRN1 PBX1 CDKN1C USP7 KMT2A BDNF HUWE1 ARX AR CYP17A1 PIGN KCNQ1OT1 RPL10 ACTG2 ABL1 RIT1 CILK1 ARID2 TUBB CDC45 KCNQ1 TPM3 HGSNAT FAT4 NSMF PRKAR1A KDM5B ERCC4 ALG8 CTC1 ARHGEF18 PMM2 RP1 CDC6 RECQL4 POLR3A PALB2 POU1F1 PDE6D OTX2 DHCR7 KMT2E GPC6 TEX15 MASP1 RTTN KEAP1 TCTN3 NF1 PPP1CB PEX16 A2ML1 SMARCD1 HES7 ERCC5 GUCA1B PDE6G CCDC28B AXL RNU4ATAC KIF7 B3GLCT SALL1 SYNE1 CDKN1B PRDM16 DMXL2 ADAMTS3 HSPG2 BBS5 IDH3B POMGNT2 TBCK PROP1 GMNN DHX37 COLEC11 MYF6 ATPAF2 MAP3K1 HS6ST1 MBTPS2 RREB1 LAS1L PDE6B SELENON HNF1B STT3B MKKS TMEM216 PIEZO2 LRIG2 ALG12 GATA1 ACTB GLI3 PEX19 KLHL10 SPATA7 FANCC NXN BLM LMOD1 TBCE NKAP COG1 GJB2 MAP3K7 WDR60 SMARCB1 H19 SOX18 PSMD12 KAT6B RPGR FANCD2 AEBP1 JAG1 CYP11A1 BIN1 RIPK4 RYR1 POLE NANOS1 BRWD3 DVL3 BAZ1B PIK3CA CCBE1 UBA1 GK CDC73 SOX2 SMOC1 ZDHHC9 GP1BB POMT1 NONO BBS12 RAD51 ATN1 EYS ADAT3 LIG4 CDK8 IFT27 RGR KIT SDCCAG8 MAP2K1 EXT2 SMC3 HRAS MUSK IRX5 ZBTB20 FMR1 SEC23A ATM SOHLH1 STAT4 SRA1 BBS7 COLEC10 KLHL7 USP9Y TAF6 TBX22 RLIM RAD51C PACS2 DNAJC19 CDC42 ERCC2 TBL1XR1 DLL3 BBS1 DHH CD96 USH2A RP2 SETD5 JAM3 MYL2 LZTR1 IFT172 BMP4 SNORD116-1 MYOD1 RBMY1A1 DAZ1 FAM161A RPE65 CNTNAP2 PARN KDM5C CDT1 ATP6V1A CTCF SEMA3A NPHP1 KDSR ARL3 PHIP LRAT GABRD POMT2 NR0B1 DMRT3 DAZ3 MERTK GNRH1 NOTCH3 DPAGT1 TPM2 POMGNT1 RRAS ZSWIM6 TP63 CUL4B NDUFB11 ANKLE2 BUB1B CYP11B1 TEX14 NFIB SETD2 KDM6A FEZF1 B4GALT7 CLIC2 CRB1 PHACTR1 SMS NHP2 GLE1 LIMK1 SOX3 MPLKIP KLHL15 INPPL1 FANCL FBN1 PRPF6 FSHB MAPRE2 DNM2 LARGE1 ELN FLNB IL12A-AS1 STAG1 PWAR1 CEP55 ATR MED13L PORCN WRAP53 MYRF FGF8 FGFRL1 HSD3B2 NRAS ZNF408 MTM1 XPC SOX11 KANSL1 KLRC4 ERCC8 EVC PEX6 ROR2 POLR1D IGF2 GJA1 SMARCA2 MRAP MTOR POLG MYMK FLI1 FRAS1 FKRP TMEM70 C2CD3 PLAGL1 SKI MCTP2 CEP152 EMG1 ARVCF CRX UQCC2 NDN B9D1 HBA1 PTPN11 BCL10 RBP3 CNGB1 SLC18A3 ZNF513 UBR1 CPLANE1 IFT140 CYB5A TSPYL1 VEGFC IL1RAPL1 UBE2T CFTR CDON FARS2 SMC1A HNRNPK ROBO1 XYLT2 NUP88 GDF6 STAR PEX14 RBM10 IL12A RFC2 CDH11 ACTA1 KIZ SGPL1 BBS10 PRPF8 ARNT2 RAB3GAP2 BBS9 VAMP7 OPHN1 FBLN1 JMJD1C VANGL1 GRIA3 GNAS LZTFL1 ABCA4 AUTS2 BRCA2 STXBP1 NELFA RXYLT1 NRL GJB4 NSUN2 POLR1C GJB3 TRRAP LMNA CITED2 LHB ASH1L PROM1 BRCA1 CSPP1 ZEB2 EHMT1 PHF8 IMPDH1 HOXD13 TCTN2 SOX4 TARS1 ALMS1 PRCD BMP2 PLVAP MTMR14 SLC25A24 ALX4 ARID1A ATP6V1E1 CA4 LHX4 PIK3C2A PIEZO1 NSD1 NR2E3 PPP1R15B PCARE SATB2 PIGS CLCN4 HPRT1 SPECC1L SEC24C CCDC22 TEX11 TMEM107 PTCH1 FTO PRMT7 CLRN1 AHR TDRD9 RSPO2 RIPPLY2 SLC35D1 GDF1 PHGDH SMARCC2 G6PC3 NOP10 IFT80 RFWD3 LHCGR KMT5B SRCAP SLC39A4 WWOX LHX1 COX7B PYCR1 MYH11 NIPBL SAMD9 GTF2H5 CHD4 SLC29A3 TOPORS YY1 HFE SCAPER ARL2BP MCM8 POLR3B CTDP1 HSD17B3 PROK2 HIBCH IL17RD FANCF ADNP LONP1 PEX26 TBX3 NPAP1 MESP2 HYLS1 SLC26A2 EIF2S3 PRPF3 FIG4 GTF2E2 ALDH18A1 KAT6A CYP19A1 FANCG DLX4 FUZ NRXN1 ANK1 FGFR3 FREM2 FANCI TNFRSF1A APC2 UBAC2 ORC1 MCM5 TP53 UBE2A RTEL1 EWSR1 GJB6 SMARCA4 NDP AHI1 KCNJ6 HACD1 RBMX RPGRIP1L DDX3Y TXNRD2 SAG ITGA7 HERC2 IER3IP1 RARB TLR4 TRIP4 NKX2-6 DPF2 RAPSN MAF WNT3 DACT1 MBD5 NNT FAM149B1 WNT7A GTF2I MID1 XPA LMX1B DHX38 IDH3A TAC3 MECOM MC2R RASA2 THOC2 B9D2 IL10 RHO COG5 NPM1 ZBTB16 COL4A1 RP9 AMH STAC3 KIAA0753 DNMT3A RLBP1 CDCA7 PQBP1 GLI1 ORC4 GRIP1 MKRN3 AFF4 FOXA2 EBF3 SCYL2 TERC ABCD4 POMK AKR1C4 PRPH2 ROM1 DAG1 TBL2 TGDS POLD1 RNF135 FLNA AKR1C2 SEMA4A NOTCH2 ZMYND15 GJA5 TULP1 SNRNP200 IFT88 VAC14 GBA2 FSCN2 EFNB1 FKTN BBIP1 B3GALNT2 TMEM231 PEX3 IMPG2 USB1 PRPF31 MAP3K20 MAMLD1 EED PDE6A FXR1 COL3A1 HBA2 HP_ABNORMALITY_OF_THE_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PENIS PROKR2 KMT2D CTBP1 GLI3 THOC2 PHF6 INSR KRAS CCDC141 KCNAB2 B4GAT1 ARID1B PTEN REEP6 KIAA1549 TCF4 GPC3 PNPLA6 KISS1 BRIP1 ATRX MED25 DYNC2LI1 SPRY4 TACR3 FGF17 CHD7 COLEC10 GLI2 RDH12 HCCS PEX1 WDR35 CEP41 DSP ANOS1 TRIM32 FGFR1 ORC6 HESX1 OGT SETBP1 TFAP2A FGFR3 PTCH1 ROR2 SMCHD1 SEMA3E PIGQ XRCC4 SLC7A14 GATAD2B PIEZO2 BCOR MAMLD1 KCNH1 SLX4 PEX10 ESCO2 AGBL5 SUFU GNRHR CHRNG DVL1 WDR11 BBS4 TREX1 RAD21 RSPO1 DHODH BEST1 FANCA KDM1A PEX12 RAB18 SOX9 FLRT3 EVC2 XRCC2 TBC1D20 KISS1R WNT4 GMPPB TOE1 ALKBH8 FGF8 SSR4 DCAF17 WNT5A ALX4 OFD1 TINF2 MAGEL2 ARL6 GTF2IRD1 UFD1 LETM1 FANCB TDGF1 CDHR1 SNORD115-1 MYH3 WT1 RAC1 CNGA1 FANCM DHDDS ERCC6 GPC4 ZMPSTE24 DCC GPR161 EP300 LFNG NEK2 SIN3A SNRPN MAK CUL7 CLIP2 BBS2 COMT POR PIGP CRPPA FANCL SMAD4 SRD5A2 DCHS1 C8orf37 HIRA DKC1 ADAR AKT1 IFIH1 CERKL PAX6 SRY PTDSS1 STT3A CPLX1 CREBBP TMEM94 GNAO1 NR5A1 SEC23B WDR34 DUSP6 RPL35A RERE TERT NSD2 TTC8 FZD2 MAD2L2 SIX6 MED12 GATA4 PRPF4 NODAL DYNC2H1 KCNA1 TUB PEX13 KIAA1109 NEK1 PWRN1 PBX1 USP7 KMT2A BDNF HUWE1 ARX CYP17A1 RPL10 ABL1 CILK1 TUBB CDC45 HGSNAT EIF2S3 FAT4 NSMF KIAA0556 TAPT1 KDM5B DLL1 CTC1 ARHGEF18 RP1 CDC6 POLR3A HDAC8 PALB2 THOC6 OTX2 SDHD HOXA13 CCDC8 PIK3CA DHCR7 RAB3GAP1 MNX1 RTTN SC5D STXBP1 PEX16 MKKS HES7 GUCA1B PDE6G CCDC28B AXL RNU4ATAC KIF7 B3GLCT SALL1 PRDM16 COX7B BBS5 IDH3B POMGNT2 DHX37 COLEC11 ATPAF2 MAP3K1 HS6ST1 RREB1 PDE6B STT3B DCX WASHC5 SCN2A PITX2 ALG12 ACTB PRKDC PEX19 SPATA7 NXN MKS1 TBCE COG1 WDR60 PSMD12 RPGR FANCD2 DISP1 CYP11A1 RYR1 POLE MAB21L2 NAA10 BAZ1B UBA1 SOX2 WDPCP FGFR2 UBR1 TP63 GP1BB POMT1 BBS12 RAD51 PEX11B KIAA0586 PCNT EYS ADAT3 LIG4 IFT27 RGR SDCCAG8 EPG5 HYLS1 RNF113A FAM111A LMOD3 SRA1 BBS7 KLHL7 TCOF1 KLHL40 TBX22 KAT6B RLIM RAD51C DIS3L2 DNAJC19 AR LEP CDC42 TBX1 DLL3 BBS1 USH2A RP2 SETD5 CCDC22 IFT172 PNKP SNORD116-1 FAM161A EXT2 RPE65 PARN ARL6IP6 ATP6V1A CTCF SEMA3A NPHP1 ARL3 LRAT GABRD POMT2 NR0B1 DMRT3 CSPP1 MERTK RNASEH2A GNRH1 POMGNT1 CUL4B NDUFB11 BUB1B CYP11B1 HSD3B2 SETD2 SCN1B TBL1XR1 KDM6A TBX3 FEZF1 CRB1 SMS NKX2-1 LIMK1 SOX3 KLHL15 PRRX1 STAR PAFAH1B1 AFF4 PRPF6 MAPRE2 LARGE1 ELN FOXH1 PWAR1 ATR WRAP53 MYRF FGFRL1 ZNF408 MTM1 ERCC8 EVC PEX6 POLR1D IGF2 SLC25A22 KDM5C MTOR SRCAP SIX3 FRAS1 FKRP GAS1 TMEM70 C2CD3 CDKN1C MEGF8 MCTP2 ARVCF CRX TGIF1 NDN CTU2 HBA1 PTPN11 SKI RBP3 CNGB1 SDHC ZNF513 IFT140 CYB5A TSPYL1 RNASEH2B UBE2T CDON SMC1A LMNA ROBO1 PEX14 RFC2 ERCC4 DMXL2 CDH11 KIZ RAF1 SGPL1 TWIST2 BBS10 PRPF8 SOX10 RAB3GAP2 BBS9 VAMP7 GMNN JMJD1C GRIA3 GNAS LZTFL1 ABCA4 GHR FLNA BRCA2 NELFA DVL3 RXYLT1 NRL NSUN2 POLR1C TRRAP LHB PROM1 BRCA1 ZEB2 EHMT1 IMPDH1 HOXD13 PRCD SLC25A24 CA4 BRAF RNASEH2C EFNB1 CDKL5 NSD1 NR2E3 PCARE PDE4D INTU SPECC1L SEC24C NEUROD2 BMP4 HNF1B PEX2 ISL1 CLRN1 AHR RIPPLY2 FANCE YWHAE NOP10 IFT80 MYMK RFWD3 LHCGR ZFPM2 WWOX HERC1 NIPBL SAMD9 HNF4A CHD4 SLC29A3 TOPORS KIFBP NEB SCAPER PEX5 ARL2BP POLR3B PROK2 ECE1 UBE2A IL17RD FANCF SAMHD1 PEX26 NPAP1 MESP2 GPR101 FERMT1 PRPF3 FIG4 SMC3 B9D2 ZIC2 CASK RSPO2 TTC37 FANCG PRKAR1A ACTA1 ANK1 MLXIPL RBBP8 AIP FREM2 INPP5E FANCI PIGN APC2 ORC1 PIGA MECP2 OBSL1 RTEL1 AHI1 TRIM8 SAG HERC2 SMO FGF10 CEP290 CYP21A2 NOTCH2 DACT1 MBD5 KLLN WNT7A GTF2I MID1 KLHL41 LMX1B LAS1L DHX38 IDH3A TAC3 OPHN1 RHO PSPH SHH COG5 NPM1 ZBTB16 COL4A1 RP9 EZH2 RLBP1 CDCA7 PQBP1 GLI1 FOXC1 ORC4 GRIP1 MKRN3 ARCN1 EBF3 TERC POMK PHF21A ARNT2 FANCC FBXL4 PRPH2 ERCC2 ROM1 SIK1 DAG1 TBL2 SDHB ERMARD SUZ12 SEMA4A CLMP TULP1 SNRNP200 IFT88 VAC14 USF3 FSCN2 FKTN BBIP1 NHP2 B3GALNT2 PEX3 CDT1 IMPG2 LHX4 USB1 PRPF31 EED PDE6A PUF60 COL3A1 HBA2 HP_MALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_PSEUDOHERMAPHRODITISM TCTN2 CBX2 RPGRIP1 WT1 MNX1 POR SRY AKR1C4 CYP11A1 SOX9 AMHR2 NR0B1 AKR1C2 CEP290 HHAT CEP55 B9D2 COX7B ATRX WDPCP B9D1 AR CYP17A1 DMRT1 HSD3B2 DHX37 MKS1 HCCS CC2D2A TMEM67 TMEM231 MAP3K1 NR5A1 CYB5A RPGRIP1L HSD17B3 TMEM107 NDUFB11 AMH TMEM216 DHH CSPP1 HP_EPISPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISPADIAS FZD2 PTDSS1 SMAD4 PIEZO2 ORC6 HCCS EVC2 KRAS WNT5A CDT1 C2CD3 GLI1 DVL3 EVC NDUFB11 SRY DVL1 ORC4 ORC1 CDC45 CDC6 TP63 COX7B ISL1 DYNC2LI1 GMNN HP_LONG_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PENIS CYP11B1 INSR KCNH1 GPR101 GNAS ESCO2 POLR3A PTEN AIP FGFR1 LHCGR AKT1 HP_CHORDEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORDEE NDUFB11 COX7B HCCS SRY POR PTDSS1 KDM1A HOXA13 MAP3K1 FGFR1 HP_HYPOGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADOTROPIC_HYPOGONADISM PROKR2 RNU4ATAC LIMK1 CHD7 FLRT3 CCDC141 FGFR1 NSMF NTN1 FSHB A2ML1 POLG PNPLA6 POLR3A KISS1 RRAS2 ELN MT-TF CTNNB1 PWAR1 AXL SPRY4 PROP1 DMRT1 TYMP TACR3 FGF8 DMXL2 WDR11 FGF17 DNAL4 HFE PIK3CA BRAF MT-ND1 MT-ND4 MAP3K1 NR5A1 RRM2B POLR3B CTDP1 HS6ST1 HSD17B3 PROK2 LAS1L ANOS1 SEMA3E IL17RD NPAP1 MT-TQ GPR101 AKT1 NR0B1 RAB3GAP2 HDAC8 MRAS SRY PTCH2 ANK1 RNF216 AIP RAD51 GNRHR MT-CO3 SUFU SOX2 NRAS NDN SOX3 CDH23 TFR2 BAZ1B PDGFB MT-TS2 WT1 KISS1R CBL TRAF7 DCAF17 HERC2 MAGEL2 REV3L GTF2IRD1 SOS2 MT-TH NF2 SNORD115-1 BAP1 RFC2 TERT RAB3GAP1 SMO PLXND1 GTF2I DCC SOX10 TAC3 DUSP6 RASA2 SNRPN LMNA CLIP2 FEZF1 HESX1 SRA1 DHX37 KRAS SMARCB1 GLI2 MT-CO1 MT-TW MKRN3 MT-ND5 LHB FOXA2 RBM28 DHH MEN1 SOS1 PCSK1 MT-ND6 LZTR1 CBX2 PTPN11 SNORD116-1 BMP2 HJV SIX6 GNRH1 TBL2 RAF1 LHX4 SOX9 GJB2 PWRN1 MT-CO2 RIT1 SEMA3A OTX2 SMARCE1 RRAS TP63 PTCH1 ZMPSTE24 PMM2 MT-TL1 POU1F1 HP_ABNORMALITY_OF_THE_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SCROTUM DACT1 MNX1 CDH11 LMX1B FLI1 MAPRE2 SETBP1 EP300 RAB3GAP2 MAP3K1 PTEN IRF6 MED12 ZFPM2 SRCAP DHCR7 SNRPN OPHN1 WWOX PWAR1 TWIST2 LHX1 PHF6 POR SAMD9 VAMP7 GLI3 SALL1 MYRF HSD3B2 COLEC10 SRD5A2 KIFBP TCOF1 MTM1 TBC1D20 DHX37 KAT6B AKT1 STXBP1 PNPLA6 NECTIN1 SEMA3E SRY AR STT3A HNF1B STT3B SOX9 CREBBP NPAP1 GRIP1 CHD7 MKRN3 POLR1C TRRAP CYB5A NR5A1 POLR1D ARCN1 ORC6 WT1 TMCO1 SPECC1L ALG12 ATRX ORC1 ZEB2 NEXMIF HOXD13 FGD1 FARSB RAB18 SNORD116-1 FZD2 PTRH2 SLC25A24 ALX4 HOXA13 FRAS1 ERCC2 CHRNG WNT7A FREM2 MEGF8 PSMD12 KIAA1109 EFNB1 NR0B1 DMRT3 PWRN1 NDN RYR1 CILK1 UPB1 TUBB PIK3CA FGFR2 TOE1 BMP4 TSPYL1 FAT4 GATA4 BUB1B HERC2 TBX4 IER3IP1 MAB21L1 MAGEL2 MAMLD1 ACTB TBX3 SNORD115-1 MYH3 HP_SCROTAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCROTAL_HYPOPLASIA RAB18 SNORD116-1 GRIP1 SLC25A24 ALX4 MAPRE2 FRAS1 ERCC2 LMX1B CHRNG WNT7A FREM2 SETBP1 RAB3GAP2 IRF6 MED12 DHCR7 KIAA1109 SNRPN OPHN1 PWAR1 PHF6 ATRX POR PWRN1 NDN GLI3 SRY RYR1 CILK1 SOX9 TCOF1 TUBB TBC1D20 KAT6B TSPYL1 SRD5A2 STXBP1 PNPLA6 NECTIN1 STT3A HERC2 STT3B IER3IP1 NPAP1 MKRN3 POLR1C MAGEL2 TRRAP NR5A1 POLR1D ARCN1 ORC6 ALG12 SNORD115-1 MYH3 HP_BIFID_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_SCROTUM IRF6 ZEB2 HSD3B2 AR HOXD13 DACT1 COLEC10 SRD5A2 KIFBP SOX9 MNX1 UPB1 POR FZD2 MTM1 CDH11 SPECC1L FGFR2 HOXA13 BMP4 FAT4 SALL1 SEMA3E BUB1B SRY CHD7 DHCR7 CYB5A NR5A1 MAMLD1 MYRF HP_SHAWL_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHAWL_SCROTUM EP300 EFNB1 NEXMIF SPECC1L FGD1 MEGF8 PSMD12 HNF1B TBX4 CREBBP TWIST2 LHX1 PTRH2 TMCO1 TBX3 ATRX SAMD9 ORC1 HP_PERINEAL_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERINEAL_HYPOSPADIAS AR GATA4 HSD3B2 SRD5A2 DNAJC19 POR HP_MACROORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROORCHIDISM ARX CLIC2 MECP2 CYP19A1 AGA ZDHHC9 UPF3B HUWE1 MED12 FMR1 GNAS NF1 PTEN RBMX LHCGR IL1RAPL1 AKT1 HP_MICROPENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPENIS PROKR2 KMT2D GLI3 PHF6 FLRT3 KLHL15 CCDC141 FGFR1 STXBP1 NSMF B4GAT1 TCF4 ARL6 SETBP1 KISS1 MAP3K1 ZFPM2 CCDC28B WWOX HERC1 PWAR1 AXL RNU4ATAC SPRY4 CHD4 SLC29A3 MYRF TACR3 FGF8 COX7B WDR11 FGF17 CHD7 COLEC10 GLI2 NEB MTM1 DHX37 CEP41 POLR3B HS6ST1 PROK2 ERCC8 ANOS1 ECE1 FRAS1 PIEZO2 UBE2A SEMA3E FEZF1 IL17RD SAMHD1 STT3B NPAP1 DCX CYB5A SCN2A ORC6 CYP17A1 EIF2S3 RAB3GAP2 ALG12 FIG4 B9D2 ACTB SLC25A22 PRKDC ATRX CASK RSPO2 KDM5C ROR2 USP7 AR PIGQ XRCC4 HDAC8 ACTA1 GATA4 MLXIPL HOXA13 FKRP SRY GNRHR DVL1 INPP5E TREX1 CDKN1C SOX2 MEGF8 PSMD12 MCTP2 DHODH PIGA NR5A1 NDN LIG4 SMCHD1 CTU2 RYR1 POLE PTPN11 UBR1 KISS1R GMPPB TOE1 C2CD3 TRIM8 ALKBH8 POMT2 RNASEH2B DCAF17 NDUFB11 HERC2 DHDDS SMO WNT5A ALX4 TP63 MAGEL2 ARX DVL3 SNORD115-1 CUL4B DMXL2 KIAA0586 ERCC6 ADAT3 SGPL1 KLHL41 LMX1B LAS1L DCC SOX10 TAC3 DUSP6 DHCR7 THOC2 SIN3A RNF113A SNRPN OPHN1 FAM111A POR COG5 HESX1 ZBTB16 VAMP7 PIGP LMOD3 SRA1 FANCL GRIA3 SRD5A2 EHMT1 KLHL40 TBC1D20 KAT6B RLIM ADAR IFIH1 PNPLA6 STT3A LEP SOX9 MKRN3 GNAO1 ARCN1 LHB WT1 EBF3 ORC1 OFD1 CDH11 PHF21A PNKP RAB18 SNORD116-1 ELN FZD2 BBS1 SIX6 GNRH1 EXT2 SLC25A24 ERCC2 SIK1 ATP6V1A HCCS SEMA3A KCNA1 RNASEH2C TBCE KIAA1109 NEK1 CDKL5 NR0B1 DMRT3 VAC14 PWRN1 PBX1 HUWE1 CILK1 RNASEH2A INTU CDC45 DYNC2H1 NEUROD2 BMP4 FAT4 KIF7 KIAA0556 TAPT1 BUB1B POMT1 HSD3B2 MAMLD1 CDC6 SCN1B UBA1 TBL1XR1 KDM6A TBX3 THOC6 OTX2 LARGE1 HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA PEX14 DHCR7 RAB3GAP1 PEX11B INSR WT1 PCNT NR5A1 KCNAB2 LIG4 TP63 PEX16 TWIST2 CCNQ FGFR2 SETBP1 RAB3GAP2 MAP3K1 UBE3B DVL1 IRF6 ZFPM2 SNRPN ESCO2 WWOX PWAR1 PDE4D COX7B POR ATR PORCN NIPBL ECEL1 VAMP7 B3GLCT GMNN PRDM16 CHRNG FZD2 HSD3B2 CHD7 ORC6 HCCS PEX1 DHX37 PEX5 KAT6B DVL3 CYP11B1 FRAS1 PEX6 SEMA3E SRY PEX26 NSUN2 ROR2 SOX9 ORC4 NPAP1 GRIP1 MKRN3 LIPE DHH CD96 FIG4 SMC3 ORC1 POC1A PEX19 SETD5 NXN TRAIP AR CYP19A1 RAB18 MKS1 ALMS1 SNORD116-1 RERE PEX2 PEX10 WNT5A LMNA SLC25A24 TBX15 CYP11A1 FREM2 CTCF PLAGL1 NR3C1 TALDO1 DHCR24 RAD21 CEP152 RSPO1 PEX13 CDC45 CDC6 GABRD NR0B1 DMRT3 VAC14 PWRN1 AGPAT2 KMT2A NDN PEX12 RIPK4 SMCHD1 SKI SPECC1L ATIC TNXB TBC1D20 UBR1 BSCL2 PEX3 ESR2 CDT1 TOE1 HYMAI CXCR4 GATA4 PRKAR1A NDUFB11 HERC2 MAGEL2 PMM2 SMC1A ISL1 HDAC8 ACTB SNORD115-1 MYH3 HP_ABNORMALITY_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CLITORIS PEX14 DHCR7 RAB3GAP1 PEX11B INSR NR5A1 PEX16 CCNQ MAP3K1 UBE3B DVL1 ZFPM2 SNRPN ESCO2 WWOX PWAR1 COX7B RAB3GAP2 POR ATR PORCN VAMP7 B3GLCT GMNN FZD2 HSD3B2 ORC6 HCCS PEX1 DHX37 PEX5 KAT6B DVL3 CYP11B1 FRAS1 PEX6 PEX26 SOX9 ORC4 NPAP1 FGFR2 MKRN3 WT1 CD96 FIG4 ORC1 POC1A PEX19 TRAIP SNORD116-1 PEX2 PEX10 WNT5A CYP11A1 SRY ROR2 TALDO1 CEP152 RSPO1 PEX13 CDC45 CDC6 TP63 NR0B1 DMRT3 VAC14 PWRN1 AGPAT2 NDN PEX12 ATIC RAB18 TBC1D20 UBR1 BSCL2 PEX3 CDT1 TOE1 GATA4 NDUFB11 HERC2 MAGEL2 ISL1 SNORD115-1 HP_ABNORMALITY_OF_THE_LABIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LABIA RAB3GAP1 INSR TP63 CCNQ FGFR2 SETBP1 RAB3GAP2 MAP3K1 DVL1 IRF6 ZFPM2 SNRPN ESCO2 WWOX PWAR1 POR PORCN NIPBL ECEL1 VAMP7 B3GLCT GMNN CHRNG FZD2 HSD3B2 CHD7 ORC6 DHX37 KAT6B DVL3 SEMA3E UBE3B SOX9 ORC4 NPAP1 MKRN3 LIPE WT1 FIG4 SMC3 ORC1 SETD5 RAB18 SNORD116-1 NR5A1 WNT5A LMNA SLC25A24 SRY CTCF ROR2 PLAGL1 RAD21 AR CDC45 CDC6 NR0B1 DMRT3 VAC14 PWRN1 AGPAT2 KMT2A NDN RIPK4 SMCHD1 ATIC TBC1D20 BSCL2 ESR2 CDT1 HYMAI GATA4 CYP11B1 HERC2 MAGEL2 PMM2 SMC1A HDAC8 ACTB SNORD115-1 MYH3 HP_CLITORAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLITORAL_HYPOPLASIA FZD2 RAB3GAP1 RAB18 ORC6 SNORD116-1 TBC1D20 WNT5A B3GLCT CDT1 DVL1 DVL3 ROR2 HERC2 ORC4 NPAP1 MKRN3 MAGEL2 ORC1 CDC45 SNRPN PWAR1 CDC6 RAB3GAP2 PWRN1 PORCN SNORD115-1 NDN POC1A GMNN HP_AMBIGUOUS_GENITALIA_FEMALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_FEMALE CYP11B1 HSD3B2 CYP19A1 SRY TBX15 TNXB DHCR24 MKS1 POR WT1 HP_AMBIGUOUS_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA SOX9 FREM2 GLI3 DHCR7 CEP57 WT1 SC5D IFT80 TWIST2 DHCR24 MAP3K1 SRY FOXH1 ZFPM2 WWOX NR0B1 CEP55 B9D2 COX7B POR ATRX CDON SHH WDPCP VAMP7 IFT81 CHD4 MYRF IRF6 HSD3B2 VANGL1 SRD5A2 HCCS WDR35 SOX3 CC2D2A DHX37 CEP41 TSPYL1 NR5A1 HSD17B3 CYP11B1 PAX6 GRIP1 TRIP13 GLI2 CYB5A CYP17A1 TMEM216 WDR34 TBC1D24 RIPK4 IGF2 BUB1B CSPP1 ZIC2 PTCH1 TRAIP HOXD13 TCTN2 CYP19A1 RPGRIP1 CEP120 FUZ MKS1 FZD2 CKAP2L GATA4 AKR1C4 TBX15 CYP11A1 SIX3 FRAS1 GAS1 WDR60 NODAL NR3C1 DYNC2H1 AKR1C2 BUB3 RSPO1 CEP290 NEK1 DISP1 DMRT3 BUB1 PBX1 TGIF1 BDNF ARX B9D1 CTU2 CILK1 TNXB PHGDH TMEM67 TMEM231 WNT4 SUFU TOE1 RPGRIP1L PSAT1 FGF8 TMEM107 NDUFB11 DLL1 TDGF1 FGFR1 HP_FUSED_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSED_LABIA_MINORA ZFPM2 ATIC CYP11B1 POR FGFR2 HP_HYPOPLASTIC_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_LABIA_MINORA FZD2 RAB3GAP1 RAB18 ORC6 SNORD116-1 TBC1D20 WNT5A CDT1 DVL3 SETBP1 HERC2 DVL1 ORC4 NPAP1 MKRN3 MAGEL2 ORC1 CDC45 SNRPN PWAR1 CDC6 RAB3GAP2 ACTB PWRN1 SNORD115-1 NDN GMNN HP_LABIAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LABIAL_HYPERTROPHY BSCL2 PLAGL1 KAT6B LMNA AGPAT2 HYMAI INSR ESCO2 HP_URETHRAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_ATRESIA TMEM107 TCTN2 RPGRIP1 WNT3 MKS1 FANCB GRIP1 CEP290 CC2D2A TMEM67 TMEM231 CEP55 B9D2 TMEM216 WDPCP FRAS1 TP63 ZIC3 RPGRIP1L B9D1 CSPP1 FREM2 HP_ABNORMALITY_OF_THE_URETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETER PAX2 RIPPLY2 KMT2D FANCE SHANK3 NKX2-1 DHCR7 LIMK1 MNX1 HAAO KRAS STXBP1 FANCL SOX17 AFF4 STK11 RFWD3 MAP3K7 MCPH1 GPC3 SETBP1 HES7 SIX5 ELN STIL CTLA4 CDK5RAP2 BRIP1 CEP55 LHX1 MYH11 AVPR2 PORCN NIPBL MYLK DYNC2LI1 B3GLCT RAI1 SALL1 KIF14 CHD4 SALL4 PAX6 HSPG2 FBLN5 CC2D2A GREB1L ITGB4 ITGA6 CEP135 KANSL1 BPTF NCAPG2 MBTPS2 KNL1 RREB1 EVC HOXA13 SEMA3E FANCF HNF1B LRIG2 NPHP3 GRHPR CHD7 MESP2 SCN2A SDHB TMEM216 FIBP SMC3 SIX1 CDK6 SLC25A22 PLEC CASK DSTYK PIGQ RPGRIP1 LMOD1 HSPA9 FANCG PIEZO2 PPP3CA FUZ BCOR YY1 EDNRA ASXL1 SLX4 TAF13 GPC4 MLXIPL RAD21 RECQL4 FAM20C MFSD2A PSMD12 FANCI CEP290 PIGN APC2 EYA1 FANCD2 ARVCF PIGA AQP2 ATRX TP63 FANCA ROBO2 RERE WFS1 B9D1 EXT1 UBE2A BRF1 IQSEC2 FLNA RAB23 ASPM CEP63 NAA10 BAZ1B EVC2 MKKS XRCC2 TMEM67 CCBE1 RPGRIP1L TRIM8 PHC1 IGF2 STAMBP PIGO HLA-DPB1 UBE2T HLA-DPA1 BNC2 KCTD1 GP1BB ARX SMC1A LMNA GTF2IRD1 ACTG1 UFD1 SDHD FANCB MAP11 PEX6 TNXB RAD51 EFEMP2 NRIP1 COL18A1 JAG1 DACT1 RIPK4 FANCM RFC2 ERCC4 DMXL2 SDHAF1 SDHA ZMPSTE24 GTF2I CCNQ NDUFAF3 TBX18 FGFR2 WDR62 ARNT2 HPSE2 LFNG PIGT SPINT2 DEAF1 AXIN1 B9D2 PYCR2 CLIP2 METTL5 RNU4ATAC COMT WDPCP PIGL ACTG2 PIGP SH2B1 JMJD1C VANGL1 NCAPD3 BICC1 HIRA RAD51C PUF60 BRCA2 GLI1 CENPJ NECTIN1 PTPN22 RARB TRRAP GNAO1 NFIA TBX1 PLD1 DLL3 EBF3 BRCA1 ATP7A CHRM3 PRTN3 CSPP1 FLII SETD5 CEP152 EPG5 EHMT1 CDH11 LONP1 TCTN2 PNKP SASS6 MKS1 ALMS1 HNRNPU MAD2L2 GLI3 FANCC GATA6 KCNQ1OT1 SIK1 TBL2 SLC6A17 FOXF1 KCNA1 STRA6 POLR3A CPT2 CDKL5 NSD1 PBX1 CDKN1C KMT2A TRPS1 COPB2 GATA3 UMPS CDC45 TMEM231 SPECC1L SEC24C NEUROD2 ANKLE2 KCNQ1 TMEM107 RPL11 KDM6A PRMT7 SETD2 SCN1B ISL1 HDAC8 SLC26A1 PALB2 ACTB CIT HP_URETEROCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROCELE PLEC CASK TP63 PIGQ KCNA1 HNF1B ITGB4 PNKP DMXL2 ARX GNAO1 SCN2A CDKL5 LHX1 SCN1B ITGA6 NEUROD2 STXBP1 TRIM8 PEX6 SLC25A22 SIK1 PIGP HP_HYDROURETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROURETER FANCE LONP1 RIPK4 LMOD1 FANCG PIEZO2 FANCM BCOR ERCC4 EDNRA MAD2L2 SLX4 GLI3 FANCC FANCL GPC4 SOX17 RFWD3 NDUFAF3 TBX18 FAM20C GPC3 SMC3 SETBP1 HPSE2 FOXF1 FANCI FANCD2 MBTPS2 BRIP1 AQP2 RNU4ATAC FANCA MYH11 AVPR2 WFS1 MYLK DYNC2LI1 ACTG2 PIGN FLNA RAB23 NAA10 CHRM3 EVC2 MKKS XRCC2 RAD51C BRCA2 GLI1 TP63 EVC UBE2T FANCF ACTG1 PLD1 PALB2 ACTB BRCA1 FANCB RAD51 HP_URETERAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_DUPLICATION COL18A1 TCTN2 RPGRIP1 VANGL1 FUZ MKS1 LMNA FIBP CC2D2A TMEM67 TMEM231 ZMPSTE24 B3GLCT GPC4 RPGRIP1L GATA6 TMEM107 GPC3 SLC6A17 PSMD12 SPINT2 CEP290 PIGN KCTD1 CPT2 AXIN1 CEP55 B9D2 TMEM216 WDPCP PBX1 PORCN B9D1 CSPP1 HP_URETEROPELVIC_JUNCTION_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION BRF1 DSTYK KMT2D HOXA13 SIX5 SIX1 DHCR7 EYA1 HNF1B KDM6A YY1 SLC26A1 PIGL TBX18 HP_RENAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DUPLICATION GP9 LIMK1 RFC2 BAZ1B ITGB4 ITGA6 B3GLCT GPC4 GTF2I TBL2 DVL1 ROR2 FOXC2 SLC6A17 GP1BB ELN WNT5A KCTD1 APC2 SETD2 NSD1 GTF2IRD1 CLIP2 DVL3 GPC3 GP1BA HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY CCDC39 TAF4B PROKR2 PLIN1 SDCCAG8 CHD7 DAZ4 IL17F F7 FMR1 CCDC141 KCNAB2 DDX3Y REEP6 DMXL2 KIAA1549 DNAH1 PNPLA6 KISS1 ERCC3 RRAS2 CASP10 SACS BRIP1 FLI1 UCHL1 SPRY4 DMRT1 TYMP TACR3 WEE2 ATM FGF17 DAZ2 GLI2 RDH12 DNAL4 RSPH3 NR5A1 MT-ND4 CCR6 MEIOB BPTF MSH5 GAS8 ANOS1 TWNK TRIM32 F5 BCOR AKT1 HESX1 IRF2BP2 CDC14A SMCHD1 SEMA3E COQ2 AMHR2 BMP15 BSCL2 HPS4 SLC7A14 GNAS HDAC8 SEPTIN12 BBS2 MRAS SLX4 GP1BA PTCH2 WT1 AGBL5 WRN GNRHR CHRNG WDR11 BBS4 SUFU RAD21 PDE8B BEST1 VPS13C ATRX TTC29 FCGR2A FANCA GHR MYH9 TSPY1 PHGDH SOX9 FLRT3 F11 XRCC2 KISS1R WFS1 MPLKIP DNAAF4 OCRL TP53 LZTFL1 DCAF17 ERCC2 ATXN8OS AGPAT2 OFD1 SRY MAGEL2 NPHP1 PMM2 ARL6 GTF2IRD1 NUP107 FANCB CDHR1 NF2 SNORD115-1 MYH3 MRE11 MEI1 CNGA1 FANCM DHDDS SOHLH1 IRF5 FOXJ1 FANCE RAB3GAP1 SMO WIPF1 RPS4Y2 MEN1 HBB GANAB DCC SUN5 GPR161 FGB DNAL1 CATSPER1 BAP1 NEK2 SNRPN MAK PDE4D PHF6 CLIP2 SYCP3 VWF WAS SIL1 RSPH9 TAC3 SMAD4 POLR3H MCM3AP C8orf37 STRC USP8 DMPK LEP STEAP3 RBM28 BCS1L CERKL CCDC40 AIP DNAI2 PKD1 PREPL DAZ3 DUSP6 SYCE1 CHRM3 SOS1 TDRD9 PCSK1 MT-ND6 DNAJB13 CBX2 GALC LEPR TTC8 LMNB1 MAD2L2 SIX6 DDB2 ARSL IQCB1 PRPF4 RAF1 RIN2 TUB EIF2B1 PRLR AR LARS2 POLA1 PWRN1 PRKACA CLPP USP7 KMT2A CYP17A1 CCNO BLM RIT1 BBS10 PSMC3IP HGSNAT EIF2S3 LRRC56 NSMF PRKAR1A ERCC4 KLHL10 GP6 DNM1L RCBTB1 ARHGEF18 AMACR ITGB6 RTN2 RP1 RECQL4 MT-TL1 PALB2 THOC6 POU1F1 DNAAF6 CAMKMT CCDC8 FGA CATSPER2 RNU4ATAC WNT4 EIF2B3 TEX15 MCIDAS IL17RC TSGA10 GBA2 NPHP3 STAG3 A2ML1 POLG CFTR MT-TF ERCC5 ALMS1 GUCA1B PDE6G CCDC28B SYNJ1 AXL CFAP221 GFI1B PRDM16 ERCC1 F2 STK36 BBS5 IDH3B MSTO1 SNCA PROP1 PIK3CA DHX37 MT-ND1 MAP3K1 HS6ST1 LAS1L NME8 PDE6B PODXL CFAP298 GP9 GTF2H5 ABCD1 HLA-DRB1 SPATA7 FANCC PPP2R3C F8 BBS12 MKS1 LRRK2 TUBB8 ZBTB16 DIAPH2 POLR3B RNF216 RAD51 RSPH1 ARMC4 FOXL2 RPGR FAS FANCD2 SLFN14 SOX10 CYP11A1 DNAI1 NANOS1 HTRA2 BAZ1B MT-TS2 EIF2B5 SIN3A TRAF7 GATA4 WDPCP SPATA16 CYP19A1 REV3L ITGB3 FGG CAVIN1 GALT NPHP4 PINK1 EYS B4GALNT1 IFT27 RGR ERCC6 KIT MAP2K1 CCDC151 POF1B ZBTB20 ZMYND10 AIRE SRA1 BBS7 GAS2L2 KLHL7 USP9Y NBEAL2 HARS2 SNAP29 AKT2 SCP2 CEP164 RAD51C SRD5A2 FSHR CDH23 KRAS SMARCB1 LMNA PATL2 BRAF ALG1 RBMY1A1 BBS1 DHH LRRC6 USH2A POC1A RP2 SETD5 ITGA2B LZTR1 IFT172 POR SNORD116-1 CIDEC FSIP2 PDE11A DAZ1 CUL7 CFAP43 FAM161A RPE65 SLC40A1 SEMA3A GP1BB ADGRG2 TTC25 ARL3 LRAT GABRD NR0B1 DMRT3 SYCP2 QRICH2 MERTK OTX2 HYDIN GNRH1 POMGNT1 SMARCE1 RRAS TP63 WDR19 CUL4B CYP11B1 TEX14 PRKCD TGFB1 CCN2 ANTXR1 MCM9 FEZF1 CRB1 DNAH11 SPAG1 LIMK1 TTR HSFY1 EIF2B4 STS FGFR1 ESR1 FANCL ZP3 NTN1 STAT5B PRPF6 FSHB LHCGR SERPINE1 ELN AARS2 PWAR1 BPY2 POLE DNAAF1 HAMP FGF8 HSD3B2 DBH F10 DNAH9 ZNF408 BRDT RSPH4A XPC FIGLA ERCC8 ERAL1 GDF9 LIPE HLA-B CCDC65 MT-TQ BMPR1B ITGA8 CACNA1G MRAP LMAN1 GCM2 FASLG MT-CO3 SOX2 AGGF1 CFAP44 NUMA1 CRX INVS NDN SOX3 PTPN11 BCL10 SKI RBP3 CNGB1 CDY2A ZNF513 AURKC FOS CISD2 CDY1 IFT140 PLAU CYB5A HFE CCDC103 WNT7A ARMC5 TRAF3IP1 PPARG UBE2T HFM1 CDON F13A1 STUB1 NPM1 SMC1A ROBO1 SOS2 MT-TH STAR PADI6 CAV1 RFC2 PSMD12 INPP5K SLC26A8 ZMYND15 KIZ SGPL1 PMFBP1 PRPF8 BBS9 NABP1 VAMP7 SPINK2 TTI2 ABCA4 ARMC2 MGME1 PKD2 STK11 XKRY TRMT10A BRCA2 NECTIN1 NRL MT-CO1 TBL1XR1 H6PD MT-ND5 LHB PROM1 BRCA1 IMPDH1 PRCD BMP2 HJV ALX4 MKKS CFAP410 CA4 LHX4 RAB3GAP2 POLR3A IL17RA BNC1 NR2E3 GJB2 PCARE MT-CO2 DNAAF5 PPM1B CDKN1C CTNS BMP4 TEX11 PTCH1 MRPS22 HNF1B DNAAF3 CLRN1 AHR PANX1 HSD17B3 AK7 OPA1 CFAP69 SPEF2 SLC25A13 RFWD3 LSS IFT74 NIN ZFPM2 CTNNB1 SLC39A4 WWOX SETD2 NIPBL SAMD9 PML SLC29A3 TOPORS SCAPER HPS5 ARL2BP HSD17B4 CFAP251 MCM8 RRM2B CTDP1 PROK2 IL17RD FANCF PEX6 TBX3 NPAP1 ZP2 GPR101 CFAP300 PRPF3 SMC3 CEP290 NOBOX FANCG RERE KDM5D ANK1 FGFR3 FANCI IGF1 IKZF1 RARA NEK10 NRAS PRY ZP1 LIG4 PTDSS1 OBSL1 TFR2 PARK7 HUWE1 PDGFB NDP AHI1 CBL FIP1L1 EIF2B2 TXNRD2 SAG HERC2 IER3IP1 MRPS7 CNBP TRAF3IP2 BICC1 NR3C1 TERT PLXND1 GTF2I MCFD2 XPA PRKACG DHX38 IDH3A MC2R RASA2 ATP7B TLE6 RASGRP1 RHO RP9 INHBA SPIDR AMH VCY STAT3 RLBP1 DNAH5 NNT TTC12 HEXB SLC3A1 MT-TW MKRN3 FOXA2 PRKN GUCY1A1 PRPH2 ROM1 TBL2 POLD1 AHSG CEP19 DNAAF2 SEMA4A PGR DRC1 TULP1 SNRNP200 IFT88 FSCN2 POLR1C BBIP1 NBN ESR2 IMPG2 CCDC114 BLOC1S3 PSAT1 TKT ZMPSTE24 PRPF31 PRY2 CLEC7A PLCZ1 F13B PDE6A PAPSS2 DNAJC6 PEX1 HP_DUPLICATED_COLLECTING_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATED_COLLECTING_SYSTEM TP63 FANCC FANCA JAG1 TELO2 FANCD2 KDM6A FANCE PIGA POGZ IARS1 PIGL TNXB KMT2D HP_RENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_INSUFFICIENCY GATM DYNC2LI1 SMARCAL1 TMEM231 LIMK1 SDCCAG8 GRHPR TSC2 STS AMMECR1 FAN1 LPIN1 FANCL MAGI2 NPHP4 CLCN5 OCRL PEX7 SIX5 MEFV ELN IL12A-AS1 CASP10 CTLA4 NUP160 CC2D2A BRIP1 IFT27 GPR35 TMEM138 GATA3 FXYD2 SAA1 GLA UMOD CCR1 CCR6 ZNF592 KLRC4 ERCC8 CRB2 CFH AGXT LRIG2 IFT172 HLA-B TCF4 MT-TK MOCOS CFI CEP290 SLC7A7 HPRT1 HRAS DSTYK SLC37A4 MT-TT BSCL2 IFT43 MYD88 PHYH SLX4 CLDN16 DZIP1L CD46 OCLN WT1 FASLG NUP93 GCM2 RAD21 C4A CORIN RPGRIP1L NOD2 AQP2 KIAA0586 SCARB2 FANCA INVS ABCA12 MST1 NPHS2 SCNN1A MAPKBP1 XRCC2 FOS WDR19 OFD1 PUS3 FAM20A PAX2 NUP133 SPP1 TRAF3IP1 HLA-DPB1 UBE2T LZTFL1 TMEM216 DHDDS BNC2 MEN1 AGPAT2 LMX1B NPHP1 SMC1A GTF2IRD1 IFT80 PPARG FANCB FAS SLC22A12 TTC21B MYH9 IL12A SEC61A1 GSN FANCM RFC2 ERCC4 IQCB1 IRF5 ERCC6 SGPL1 CAV1 GANAB PKHD1 MUC1 EYA1 CD2AP CLIP2 COL4A3 HPSE2 PYGM DCDC2 STAT4 SLC34A1 IL23R SIX1 VANGL1 ERAP1 INF2 ITGA3 HBB MAFB NLRP3 PKD2 BICC1 CFHR5 DNAJB11 CTNS BRCA2 CACNA1S CD151 TGM1 PAX6 CCND1 TMEM126B CFHR1 PKD1 RAD51C PGAM2 BRCA1 IRAK1 CHRM3 CLDN10 PRTN3 WDR35 EHMT1 ELP1 ALMS1 MT-TL1 PNPLA6 MAD2L2 SULT2B1 NUP107 LCAT PRDX1 TMEM67 CPT2 SPRY2 PBX1 KMT2A COL4A1 STOX1 LAMB2 LEMD3 BBS10 MMUT C3 HNF1B ACTN4 COL7A1 IFT122 HSD11B2 TPRKB HDAC8 PALB2 LIPN SDR9C7 CEP120 FANCE ACSL4 TMEM237 NOTCH2 EIF2AK3 RFWD3 NPHP3 PGK1 NEK8 TRPC6 CLCNKA LHX1 AVPR2 NIPBL HNF4A CYP4F22 SALL1 CHD4 AP2S1 SCNN1B SLC7A9 WDR60 APRT ALDOB IFT140 MT-TE LAGE3 FANCF NUP85 TP53RK THBD SMC3 HLA-DRB1 ANLN XPNPEP3 FANCG FUZ NUP205 COG1 NIPAL4 MLXIPL HOXA13 APOE FLT1 CFB FANCI IKZF1 UBAC2 FANCD2 MMACHC PLCE1 PTPN22 TCN2 DGKE BAZ1B APOL1 CDC73 CLCNKB ALOXE3 HLA-DPA1 SHPK COL4A5 TLR4 CLPB RMND1 CAVIN1 ZNF423 REN RAD51 DYNC2H1 JAG1 DACT1 COL4A4 FAH TBC1D8B INPP5E GTF2I CEP83 TBX18 ANKS6 KYNU GLIS2 DNASE1L3 KCNE5 IL10 RASGRP1 NPHS1 SH2B1 TMEM260 AHI1 CEP164 PRPS1 BTNL2 SLC3A1 FN1 BBIP1 HPS1 SETD5 MYO1E COQ8B ALOX12B FANCC TSC1 TBL2 HMBS RYR1 HELLPAR WDR34 MME ARHGDIA KCTD1 CCNQ WDR73 CSPP1 LDHA CLDN19 SARS2 PRKCD BSND CCN2 SCNN1G SLC30A9 SLC26A1 CFHR3 OSGEP SOX18 HP_HORSESHOE_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORSESHOE_KIDNEY RBM10 PAX2 FANCC PORCN SEMA3E CHST14 C8orf37 FANCD2 FANCE TCTN3 HNRNPU SC5D SON MAP3K7 AFF4 RBM8A FGFR2 NRAS STRA6 MNX1 KRAS EXTL3 ESCO2 WT1 CCBE1 POR DSTYK PBX1 ZIC3 HNF4A DSE FANCI SSR4 CCNQ SALL4 FANCA CHD7 HRAS GREB1L CWC27 COLEC11 DKC1 ADAMTS3 DDX59 LEMD3 DYNC2LI1 SMOC1 SRY SLX4 HNF1B HMGA2 RARB RPL11 SNRPB THOC6 FAT4 STAG1 PUF60 CD96 HP_ECTOPIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_KIDNEY JAM3 SMS FANCC KMT2D NRIP1 HOXD13 XRCC4 DACT1 SOX4 LIMK1 FUZ RFC2 NIPBL FANCD2 RTTN ELN FANCE SMARCC2 LEMD3 GLI3 MLXIPL ARID1B RBBP8 DDX59 GTF2I CCNQ SMARCB1 TBL2 SALL1 LRP4 ARID1A SMARCD1 SMARCE1 WT1 STRA6 CLIP2 CCBE1 APC PBX1 FGFR1 RPS26 SALL4 FANCA SPECC1L VANGL1 CHN1 MAFB ARID2 BAZ1B SMARCA4 SOX11 ADAMTS3 PUF60 SPINK5 SLX4 HMGA2 DNA2 KDM6A SNRPB GTF2IRD1 FAT4 DPF2 HP_RENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA PAX2 JAG1 FREM2 DACT1 LIMK1 RFC2 ATN1 HAAO NOTCH2 LRP4 ARID1B IFT80 GTF2I TBX18 MUC1 ELN KYNU WDR35 KIF14 DHCR7 CLIP2 PDE6D COMT RNU4ATAC B3GLCT SALL1 TTC37 SALL4 SKIV2L JMJD1C FANCL CHD7 PUF60 DCHS1 ARL6 TXNL4A HIRA PQBP1 NCAPG2 MBTPS2 RREB1 CEP55 FRAS1 PIEZO2 HMGA2 RARB NAA10 TBX3 GRIP1 TRRAP NFIA TBX1 WDR34 SEMA3E XRCC4 CEP120 HSPA9 BCOR NIPBL GLI3 DLL4 WDR19 MLXIPL RAD21 FAT4 WDR60 TBL2 DYNC2H1 STRA6 ARVCF ATRX MCM5 ROBO2 PBX1 PPP1R15B FANCI RFWD3 KCTD1 GEMIN4 INTU BAZ1B SEC24C CENPF BMP4 LEMD3 HNF1B PRMT7 GP1BB RPS19 GTF2IRD1 UFD1 RMND1 REN HP_NEPHRONOPHTHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRONOPHTHISIS RPGRIP1L XPNPEP3 NPHP4 DYNC2LI1 DYNC2H1 TMEM216 SDCCAG8 IQCB1 IFT43 TMEM67 FAN1 NPHP1 IFT172 WDR19 ZNF423 NPHP3 CEP83 ANKS6 NEK8 GLIS2 CC2D2A CEP164 WDR34 INVS DCDC2 TMEM138 TRAF3IP1 TTC21B MAPKBP1 WDR60 CEP41 AHI1 CEP290 IFT140 IFT80 TRIP11 CEP120 HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY XPNPEP3 MYO1E VPS33A LIMK1 PKHD1 RFC2 ALMS1 PDSS2 TMEM67 FAN1 MT-ND4 NDUFB8 COL1A1 NUP107 NPHP4 GTF2I FOXP3 CEP83 TBL2 BCS1L MT-TL1 MT-ATP6 MUC1 ELN GLIS2 MT-ND3 CA2 UMOD CTNS MT-TK CLCNKB MT-TW SURF1 ACP5 CLIP2 NPHS1 MT-ND6 ANTXR1 GBE1 MT-ND2 SFTPC KCNJ10 AGT AGTR1 MRPS22 COL5A2 WDR19 NDUFAF3 ACE NPHP3 CLCN5 BAZ1B SLC7A7 ITGA3 HLA-DRB1 MT-TV GLA REN PTPRO PUS3 INVS NUP133 TRAF3IP1 COL5A1 BTNL2 FOXC2 OCRL MT-ND1 COQ2 SHPK IFT122 PMM2 GTF2IRD1 MT-ND5 NPHP1 BSND SLC30A9 SLC12A3 MMUT SCO2 NDUFS2 ALG8 DPH1 SLC22A12 HP_RENAL_TUBULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ATROPHY MUC1 XPNPEP3 MYO1E NUP107 NPHP3 VPS33A GLIS2 CLCN5 TMEM67 ITGA3 UMOD NPHP1 NPHS1 NPHP4 NUP133 REN CEP83 HP_GLOMERULOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULOSCLEROSIS PLEC SLC37A4 MDH2 MT-ND6 MYO1E JAG1 SMARCAL1 SDHD DNMT3A VPS33A SEC61A1 WT1 RET COQ8B NUP205 ELP1 FAH DLST SDHB SDHAF2 TBC1D8B SGPL1 NARS2 VHL NUP107 MT-CO3 NUP93 NF1 MUC1 SDHA MT-TF NUP160 TRPC6 CD2AP COQ6 CLCNKB MAX INF2 SCARB2 NPHS1 KIF1B CRB2 NPHS2 MT-CO2 EPAS1 PLCE1 G6PC CLCN5 SLC25A11 MT-TS2 ITGA3 COQ2 APOL1 PTPRO MT-ND1 MT-ND4 PAX2 NUP133 MT-CO1 SDHC FH LAGE3 ITGB4 MT-TW ACTN4 MT-TQ NUP85 MT-ND5 TP53RK TPRKB MT-TL1 BSND TMEM127 SLC12A3 MT-TH WDR73 REN OSGEP ANLN HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS SLC37A4 MT-ND6 MYO1E JAG1 SMARCAL1 VPS33A SEC61A1 WT1 COQ8B NUP205 TBC1D8B SGPL1 NARS2 NUP107 MT-CO3 NUP93 MT-TF NUP160 TRPC6 CD2AP COQ6 CLCNKB INF2 SCARB2 CRB2 NPHS2 MT-CO2 PLCE1 G6PC CLCN5 MT-TS2 ITGA3 APOL1 PTPRO MT-ND1 MT-ND4 PAX2 NUP133 MT-CO1 MT-TW ACTN4 MT-TQ NUP85 MT-ND5 MT-TL1 SLC12A3 MT-TH WDR73 REN ANLN HP_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALL_STATURE SMS SHANK3 NSDHL SLC6A8 YWHAE NEB PAFAH1B1 ESR1 FBN2 STRADA PTEN SARS1 LHCGR POLG GPC3 TGFB3 TGFB2 UPF3B SOST KRAS HERC1 PIGL SETD2 KIF7 NSD1 GPR101 HSPG2 TRIM32 PLOD1 MED12 DNA2 KLHL41 FKBP14 MC2R ABAT COL2A1 FIBP DLG4 HRAS MRAP PDGFRB CYP19A1 CHST14 FARSB NKAP ACTA2 LOX SMAD4 NF1 MAN2B1 GPC4 MC4R PRKG1 NFIX WRN AIP CHD8 SUFU LETM1 COL6A3 TIMM50 EED NRAS AGGF1 PDE8B APC2 TPM2 PIGA FBLN5 C1R RERE PRKAR1A FGF3 DSE ACTA1 GLI3 ASXL3 PIK3CA SRY MGAT2 FAM20A DICER1 TXNRD2 IGF2 SUZ12 TGFBR1 ZDHHC9 TUBB4A NONO MYH11 STAR HPGD FBN1 MEN1 DNMT3A SMAD3 FGFR3 MFAP5 KBTBD13 TPM3 POF1B GRIA3 ELN COL6A2 PTCH1 TCF20 EZH2 CBS GNAS MYPN NNT TGFBR2 AKT1 DIS3L2 NELFA CCND1 TYMP COL1A2 COL6A1 ZNF469 NSD2 POR PDE11A KCNQ1OT1 ATP6V1A RNF135 ATP6V1E1 TGFB1 POLR3A RET EFEMP2 PRKACA AGPAT2 CDKN1C MYLK BSCL2 KCNQ1 PYROXD1 MAT2A NPR2 LRP4 CYP11B1 FOXE3 MTM1 HP_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULONEPHRITIS WDR19 CFI COPA LMNB2 DGKE SLC7A7 COL4A3 C1QB C1QC CD81 MAGI2 CFHR5 NUP107 FOXP3 FAS FASLG PRKCD ZAP70 LAGE3 C3 C1QA CASP10 PGM3 MME RASGRP1 C4A LMX1B SOX18 EMP2 HP_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROTIC_SYNDROME VPS33A SMARCAL1 WT1 GSN COL4A4 SLC17A5 TBC1D8B SGPL1 CHST14 MAGI2 IFT27 LYZ BBS10 SDCCAG8 TBX18 CASP10 MAP3K1 APOA1 NUP160 ZFPM2 TRPC6 BBS9 WWOX COL4A3 NPHS1 BBS2 CRB2 STAT4 GATA3 VAMP7 RAG2 RMRP BBS7 BBS5 MEFV WDR4 SAA1 SNAP29 ITGA3 COQ2 GLA DHX37 LZTFL1 OSGEP ZNF592 PDSS2 NUP133 TRIM32 LAGE3 CCND1 SOX9 C1QBP KANK2 NUP85 TP53RK FN1 WDR73 NLRP3 CHD7 BBS1 IRAK1 ANLN SLC35A2 SERPINA1 MYO1E LIG4 MKS1 IL2RG COQ8B LMNB2 NUP205 IL7R NR5A1 NUP107 MKKS FOXP3 SRY NUP93 BBS4 PRKCD C8orf37 LAMB2 NPHP1 COQ6 INF2 MME ZAP70 NR0B1 TPRKB SCARB2 LMX1B DMRT3 ARHGDIA ARL6 NPHS2 ADA MARS1 FGA PLCE1 BBIP1 DGKE PTPRO PUS3 PAX2 B2M SPP1 GATA4 WDPCP IFT172 C3 IFIH1 COL4A5 DCLRE1C PMM2 BBS12 CEP290 RAG1 TTC8 EMP2 HP_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYURIA ITPR3 PTPN22 NPHP3 SLC12A3 CLCNKB KCNJ5 KCNJ1 TMEM67 PLVAP CLDN16 NPHP1 NPHP4 CTNS AQP2 FAM20A KCNJ10 SARS2 SLC5A2 SLC34A1 ATP1A1 IL6 SLC12A1 HNF1A AVPR2 CLCNKA BSND CLDN10 CYP24A1 MAGED2 CASR HP_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_AGENESIS PROKR2 FREM2 WNT4 PHGDH ATN1 FANCD2 RTTN FANCE STS LRP4 FAM149B1 NDUFB8 FGF20 TCTN3 FGFR1 DCC DHCR24 WDR62 MCPH1 SOX10 FREM1 STIL CDK5RAP2 ANOS1 FOXH1 TFAP2A DHCR7 TACR3 SURF1 PYCR2 METTL5 INSL3 CDON SHH CPLANE1 HESX1 HNF4A GLI3 KIF14 FGF8 SALL4 SH2B1 WDR11 SF3B4 VANGL1 KIF7 CHD7 ALDH18A1 NCAPD3 PUF60 CDC42 KIAA0753 GREB1L NSDHL CEP135 SIX1 HS6ST1 KNL1 CEP55 CENPJ TBX1 IL17RD HNF1B DUSP6 GLI2 SDCCAG8 ATRX SCO2 NDUFS2 CDK6 ZIC2 PROK2 ITGA8 FANCC CEP152 FGFR3 PTCH1 TBC1D24 SEMA3E HOXD13 XRCC4 PIEZO2 WNT3 FUZ SASS6 MKS1 NSMF SON TAF13 PPP2R1A SIX3 GAS1 FGF17 FANCB TMEM216 NODAL PPP2R3C MFSD2A PIK3C2A EYA1 GDF6 DISP1 PBX1 TGIF1 ZIC3 CTU2 COPB2 KCTD1 GATA3 CCNQ PTPN11 FANCA NDUFAF3 SEMA3A TNXB ASPM CEP63 FLRT3 OFD1 KISS1R ANKLE2 CCDC141 SUFU PHC1 TP63 FGFR2 MBTPS2 DLL1 SPRY4 FGF10 THOC6 RET RPL26 CIT TDGF1 FEZF1 PDE6D MAP11 HP_ENLARGED_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_KIDNEY VPS33A CILK1 G6PC PKHD1 BICC1 SAA1 INSR FIBP PIK3CA FAH DYNC2H1 KCNQ1 PKD2 GPC4 GANAB INVS KCNQ1OT1 BMPER IGF2 ANKS6 NEK8 NPHP3 FANCB CPT2 PKD1 GPC3 CDKN1C SLC37A4 ZIC3 SLC29A3 HP_RENAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CYST PAX2 RSPO2 SHANK3 CDC73 DHCR7 NPHP3 LIMK1 NOTCH2 TMEM67 PDX1 TSC2 KCNAB2 B4GAT1 PTEN IFT80 SEC63 NPHP4 STK11 PEX16 MKKS KLF11 GPC3 NEK8 SIX5 ELN WDR35 CC2D2A CPT2 TFAP2A CEP55 LHX1 MYH11 RNU4ATAC AMER1 NIPBL MYLK VHL HNF4A SALL1 PRDM16 TTC37 TSC1 AP2S1 BBS5 PUF60 IFT43 FBLN5 PEX1 GREB1L TMEM231 PRKCSH PEX5 MSH3 RREB1 ZNF148 IFT140 TMEM237 BLK CRB2 PEX6 TRIM32 COQ2 HNF1B PEX26 ROR2 TRIP13 ALG8 TMEM216 FIBP SMC3 B9D2 INS SETBP1 PEX19 ALG9 XPNPEP3 NXN RPGRIP1 CEP120 CCND1 LMOD1 MKS1 PIEZO2 PDSS2 RERE PEX10 FLI1 ESCO2 DZIP1L GPC4 LIPT2 FRAS1 KCNJ11 WDR60 FREM2 BBS4 SNRPB RAD21 MCTP2 BUB3 CEP290 PIGN APC2 EYA1 RPGRIP1L PKD1 ARVCF LRP5 KIAA0586 TMEM138 PEX12 B9D1 SKI BAZ1B MAPKBP1 B3GLCT OFD1 ETFA IGF2 WDPCP OCRL PKD2 LZTFL1 ABCC8 HSD17B4 GP1BB SMC1A PMM2 GTF2IRD1 CLPB CSPP1 UFD1 BBS12 RMND1 EFEMP2 PEX14 PORCN FLCN NRIP1 JAG1 WNT3 DACT1 SEC61A1 CEP57 PKHD1 RFC2 BICC1 PEX11B ETFB GANAB INPP5E ZNF423 IFT27 GTF2I IFNG BBS10 SDCCAG8 TBX18 BMPER ANKS6 MUC1 PIGT BBS9 CLIP2 COMT BBS2 BBS7 SKIV2L JMJD1C GLIS3 SIX1 NEUROD1 TMEM260 COL4A1 KAT6B HIRA INVS AKT1 GRIP1 TRRAP TMEM107 RAD51C TBX1 WDR34 BBS1 CHRM3 BUB1B CD96 SETD5 JAM3 TBC1D24 HOXD13 TCTN2 APPL1 MT-CYB ETFDH PEX2 GLI3 PAX4 PEX13 ARL6IP6 KCNQ1OT1 TBL2 C8orf37 HNF1A NPHP1 FLNB DYNC2H1 ARL3 CEL NEK1 NSD1 GABRD BUB1 CDKN1C KMT2A ARL6 GATA3 ACTG2 BBIP1 HDAC4 CWC27 SEC24C PEX3 KCNQ1 UMOD IFT172 TKT MBTPS2 GCK SETD2 HDAC8 TRIP11 TTC8 HP_RENAL_CORTICOMEDULLARY_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICOMEDULLARY_CYSTS MUC1 XPNPEP3 CRB2 NPHP1 NPHP3 UMOD NPHP4 TMEM67 HP_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DYSPLASIA PLEC CASK ITGA8 JAG1 PIGQ GLI3 NPHP3 PNKP PIEZO2 DMXL2 TTC8 PLVAP POMT1 STXBP1 NDUFB8 B4GAT1 COQ7 SIK1 FKRP TBX18 AMMECR1 ARX PIGT KCNA1 PIGN EYA1 LARGE1 CDKL5 SURF1 KIAA0586 PBX1 CPLANE1 GATA3 SALL1 PIGP CSPP1 NDUFAF3 USP9X SIX5 GREB1L ITGB4 DYNC2H1 FKTN ITGA6 NEUROD2 BICC1 TRIM8 SIX1 INTS1 MBTPS2 CEP55 ZNF148 IFT140 TP63 POMT2 TBX1 BNC2 SMO PAX2 GNAO1 SCN2A SON SDCCAG8 SCN1B FIBP RMND1 SHANK3 SCO2 NDUFS2 SLC25A22 HP_NEPHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROPATHY PRODH DYNC2LI1 DYNC2H1 MYH9 FAM20A SEC61A1 TMEM231 TTR TMEM237 TREX1 WT1 PDX1 WIPF1 INPP5E LYZ CC2D2A KLF11 YWHAE WAS MT-TF APOA1 TMEM138 ALG1 SCNN1B WDR4 SAA1 WDR60 GLA MAFB NEUROD1 UMOD NPHP1 COL4A1 MT-ND1 MT-ND4 OSGEP SLC26A4 NUP133 IFT140 CD151 BLK PAX6 MT-CO1 CCND1 IFT172 VIPAS39 WFS1 CEP290 KCNJ10 MT-TW MT-TQ RPGRIP1L MT-ND5 WDR73 NLRP3 INS MT-ND6 TP53RK FOXI1 APPL1 BSCL2 TMEM67 PAX4 NUP107 MEFV WDR19 KCNJ11 MT-CO3 HIC1 HNF1A PRDX1 CAV1 NOD2 CEL MMACHC WDR34 TPRKB SCARB2 HNF4A CLDN19 MT-CO2 FGA VPS33B SCNN1A MT-TS2 PAFAH1B1 FOS CISD2 B2M EIF2AK3 HPRT1 GCK TMEM216 AGPAT2 LMX1B ABCC8 COL7A1 ADA2 IFT80 MT-TL1 LAGE3 SCNN1G PPARG CAVIN1 MT-TH ZNF423 CEP120 TTC21B HP_POLYCYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_KIDNEY_DYSPLASIA SHANK3 CDC73 PKHD1 MKS1 ETFDH ETFB TSC2 GANAB ESCO2 ZNF423 TSC1 ANKS6 DZIP1L OFD1 WDR35 CPT2 EYA1 PKD1 ARVCF NEK1 TBX1 COMT TMEM231 GATA3 TTC37 SKIV2L JMJD1C GLIS3 PEX12 IFT43 VHL MKKS SEC24C DYNC2H1 PEX5 HIRA SIX1 ETFA RREB1 PKD2 NPHP3 GP1BB TMEM107 UFD1 TRIP11 ALG9 HP_PROXIMAL_TUBULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_TUBULOPATHY MT-ND6 NDUFAF5 ETFDH ETFB LRP2 NDUFAF1 TIMMDC1 NDUFAF8 NDUFB10 HBB NDUFAF2 MT-ND2 CLCN5 ALDOB MT-CO3 OCRL MT-TF MT-ND3 COG6 NDUFB3 SLC34A1 NDUFA6 NDUFS6 NDUFB9 MT-CO2 FOXRED1 RRM2B MT-TS2 MT-ND1 NDUFS2 NDUFV1 NDUFAF4 MT-ND4 NDUFS3 NDUFV2 ETFA NDUFS4 MT-CO1 MT-TW MT-TQ MT-ND5 NDUFA1 PMM2 MT-TL1 NDUFS7 MT-TH NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 NDUFS1 NUBPL HP_RENAL_PHOSPHATE_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_PHOSPHATE_WASTING SLC9A3R1 SLC34A3 SLC34A1 DMP1 ENPP1 FGF23 PHEX CLCN5 INPPL1 HP_NEPHROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROCALCINOSIS FAM20A ZNF687 LIMK1 GRHPR RFC2 KCNJ1 ALMS1 ELN COL4A3 INSR GALNT3 FAH CLDN16 ADAT3 STRADA MEFV MLXIPL GTF2I CLCN5 KCNQ1OT1 SRP54 TBL2 AMMECR1 GCM2 OCRL WDR34 PIGT SRCAP HNF4A ALPL SLC12A1 CDC73 CLIP2 ATP6V0A4 ABCC6 HOGA1 CASR CDKN1C SLC4A1 PTH1R GATA3 DNAJC21 AIRE AGXT FUT8 ENPP1 TRNT1 GNA11 VPS33B BAZ1B HLA-DRB1 KCNQ1 CLDN19 PEX3 IGF2 STX3 BTNL2 SLC34A1 VIPAS39 MEN1 HSD11B2 GTF2IRD1 CLPB SBDS TBC1D24 CYP24A1 MAGED2 MYO5B HP_UNILATERAL_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_RENAL_AGENESIS KIF14 PROKR2 CEP152 XRCC4 WNT4 SASS6 RTTN STS SON TAF13 PPP2R1A WDR62 MCPH1 PPP2R3C MFSD2A STIL CDK5RAP2 ANOS1 DHCR7 GDF6 PYCR2 METTL5 GLI3 CTU2 COPB2 GATA3 PTPN11 SF3B4 TNXB ALDH18A1 ASPM CEP63 NCAPD3 CDC42 ANKLE2 CEP135 PUF60 KNL1 PHC1 CENPJ TBX1 MBTPS2 HNF1B CIT THOC6 MAP11 CDK6 HP_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRITIS MYH9 XDH COPA LMNB2 BICC1 COL4A4 FCGR2B COL4A3 CD81 CTLA4 MAGI2 HOXA13 GANAB NUP107 FOXP3 FASLG PRKCD CASP10 ALMS1 C1QA DNASE1 FAS DNASE1L3 MME RASGRP1 C4A LMX1B STAT4 KCTD1 WDR19 CFI DGKE SLC7A7 UMOD C1QB C1QC PKD2 CFHR5 PTPN22 SPP1 ZAP70 CD151 LAGE3 BNC2 TREX1 C3 COL4A5 PGM3 PLG PKD1 FCGR2A IRAK1 SHANK3 SOX18 EMP2 HP_RENAL_TUBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_DYSFUNCTION GATM JAG1 SLC4A4 BCS1L SCO1 PHEX NDUFAF5 PDX1 NOTCH2 ETFB ABCC8 FAH COX6B1 NDUFB8 CPT1A PEX19 HBB MT-ND2 CLCN5 COX14 OCRL TACO1 ATP7B MT-TF NADK2 KCNJ11 CTNS CLCNKB MT-ND3 SURF1 GCK COG6 ATP6V0A4 SLC4A1 SLC34A1 PET100 GATA3 NDUFA6 HNF4A STAT3 ZFP57 CYP11B2 COA3 RRM2B NDUFS2 NDUFV1 MT-ND1 MT-ND4 NDUFS3 NDUFV2 NDUFS4 CAD MT-CO1 COQ2 HNF1B VIPAS39 COX10 MT-TW MT-TQ MT-ND5 NDUFA1 PC NDUFA11 SCO2 NDUFB11 FN1 ATP6V1B1 NDUFS1 MT-ND6 EPG5 CA2 PDSS2 ETFDH LRP2 NDUFAF1 CLDN16 COA8 FBXL4 TIMMDC1 NDUFAF8 NDUFB10 NDUFAF2 ALDOB MT-CO3 PLAGL1 COX8A KYNU INS NDUFB3 UQCC2 NDUFS6 NDUFB9 SLC2A2 MT-CO2 FOXRED1 NDUFAF3 COX20 VPS33B MT-TS2 NDUFAF4 EIF2AK3 ETFA HYMAI MMUT MT-TN PMM2 MT-TL1 RMND1 SLC34A3 SLC12A3 NDUFS7 MT-TH NDUFS8 TMEM126B NUBPL HP_PELVIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_KIDNEY SLX4 ELN LIMK1 RFC2 BAZ1B RTTN STRA6 GTF2IRD1 CLIP2 MLXIPL GTF2I PUF60 CCNQ FGFR1 TBL2 HP_RENAL_SALT_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_SALT_WASTING CYP11B2 STAR MRAP SCNN1B HSD3B2 CLCNKB NNT KCNJ1 CYP11A1 KCNJ10 SCNN1G SARS2 SCNN1A TXNRD2 MUC1 CYP11B1 MC2R SLC12A1 NR0B1 CLCNKA BSND CYP21A2 HP_RENAL_POTASSIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_POTASSIUM_WASTING SLC12A1 SLC12A3 CLCNKB KCNJ10 ATP1A1 KCNJ1 HP_ABNORMALITY_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERUS FANCE PIK3CA CTBP1 WNT4 PHGDH NR5A1 NAB2 FGFR1 ESR1 FANCL ARID1B FSHR IFT80 STK11 RBM8A RFWD3 SETBP1 KISS1 NIN BRIP1 AURKA NIPBL MSH6 GATA3 HNF4A B3GLCT GLI3 SALL1 SPRY4 CDKN1B MYRF TACR3 DLC1 COX7B FGFRL1 FGF17 WDR35 GREB1L AKT1 NUP107 FIGLA MSH2 MSH3 RREB1 PROK2 ERAL1 PLG CYP11B1 FLCN FRAS1 HOXA13 FANCF HNF1B TBX3 CYP17A1 SPECC1L SMC3 BMPR1B ITGA8 CDH1 AR BMP15 MLH3 FANCG TP53 LRP2 SLX4 CYP11A1 PMS2 WDR60 GNRHR COL3A1 FREM2 WDR11 FANCI RAD21 FOXL2 ANOS1 MNX1 PIGN FANCD2 ARVCF CTNNB1 BUB1 FANCA PDGFRL AXIN2 DHH SEMA4A NRAS SDHC SOX9 XRCC2 TLR2 NDP SRY TOE1 CYB5A CDC73 SF3B4 DCAF17 NDUFB11 UBE2T TGFBR1 RARB GP1BB BAX THOC6 SMC1A HS6ST1 UFD1 LETM1 FANCB RAD51 DACT1 MLH1 FANCM ERCC4 PTPRJ KLLN POLD1 FH DCC WT1 WNT7A CCNQ BMPR1A FLI1 PTEN MCC EP300 TAC3 FGFR3 NSD2 PROKR2 HYLS1 IRF6 DHCR7 AXIN1 ESCO2 COMT NTHL1 KISS1R TP63 JMJD1C INHBA SPIDR POLR3H STAT6 POLE DMPK HIRA RAD51C BRCA2 PAX6 CPLX1 CREBBP GRIP1 SEC23B TBX1 WDR34 DUSP6 BRCA1 CHRM3 ALG9 PTPN12 SETD5 PLA2G2A MKS1 BUB1B CHD7 SMAD3 MAD2L2 GREM1 FANCC PPP2R1A RAD54B SDHB SLC6A17 HCCS PRKAR1A DYNC2H1 STRA6 CXCR4 TGFBR2 BNC1 LARS2 RPS20 CLPP KMT2A USF3 TNXB PSMC3IP INTU SEC24C GNRH1 FGF8 CCND1 NSMF ODC1 MRPS22 SOHLH1 SRC APC HDAC8 PALB2 RPS6KA3 SDHD HP_MENORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENORRHAGIA VWF GP1BB ITGA2B F8 F2 INHBA MYH9 GP9 F10 HPS4 NBEAL2 LMAN1 F11 ITGB3 F7 HPS5 GP1BA PLAU BLOC1S3 MCFD2 PRKACG SERPINE1 CDH23 PRLR GP6 F13A1 F5 SLFN14 FLI1 F13B USP8 HP_GONADAL_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_DYSGENESIS RXYLT1 BCL10 DHH SPIDR BMP15 WT1 ERCC3 TARS1 POLR3H MPLKIP PSMC3IP DHX37 NR5A1 HSD17B4 FGFR3 STK11 TOE1 FSHR KIT SRY GATA4 ZFPM2 TWNK MAP3K1 MRPS22 SOX9 BNC1 WWOX ERCC2 NR0B1 DMRT3 NUP107 GTF2E2 VAMP7 GTF2H5 RNF113A HP_FEMALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_HYPOGONADISM TACR3 CDH23 ATM AIP FGF17 CHD7 GNRH1 FGFR1 BMP4 FSHB PROK2 GNRHR FGF8 NSMF WDR11 KISS1 TAC3 PROKR2 ANOS1 PRLR HS6ST1 KISS1R DUSP6 MEN1 SPRY4 AIRE HP_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADISM PROKR2 LIMK1 FMR1 CHD7 STS CCDC141 FGFR1 KCNAB2 FANCL NTN1 REEP6 POLR3B PRPF6 FSHB DMXL2 KIAA1549 LHCGR WRN PNPLA6 ARL6 KISS1 ERCC3 RRAS2 ELN PWAR1 BRIP1 NR0B1 IFT27 POLE SPRY4 DMRT1 TYMP TACR3 HAMP FGF8 ATM FGF17 GLI2 RDH12 DNAL4 ZNF408 BRAF MT-ND4 XPC ERCC8 ANOS1 TWNK PHGDH TRIM32 MT-TQ AKT1 BMPR1B SMCHD1 SEMA3E POLG SLC7A14 GNAS HDAC8 BBS2 MRAS SLX4 PTCH2 WT1 AGBL5 GNRHR CHRNG MT-CO3 LMNA WDR11 BBS4 SUFU SOX2 PDE8B BEST1 CRX ATRX FANCA PRKAR1A NDN FANCB SOX3 SKI RBP3 CNGB1 ZNF513 FLRT3 XRCC2 KISS1R WFS1 CISD2 IFT140 CYB5A HFE TRAF3IP1 NR5A1 DCAF17 UBE2T LZTFL1 ERCC2 OFD1 STUB1 MAGEL2 PMM2 HS6ST1 GTF2IRD1 SOS2 MT-TH CDHR1 NF2 SNORD115-1 MYH3 MRE11 SOX9 PROP1 RNF216 CNGA1 FANCM DHDDS RFC2 ERCC4 INPP5K SIL1 FANCE RAB3GAP1 SMO KIZ SGPL1 HBB BBS10 DCC PRPF8 STEAP3 SOX10 BAP1 NEK2 BBS9 SNRPN MAK PDE4D PHF6 CLIP2 HESX1 VAMP7 ALG1 BMP15 TAC3 SMAD4 ABCA4 C8orf37 MGME1 DMPK LEP RBM28 BRCA2 BCS1L NECTIN1 CERKL NRL MT-CO1 MT-ND5 LHB PREPL PROM1 DUSP6 BRCA1 MEN1 SOS1 PCSK1 MT-ND6 IMPDH1 PTPN11 CBX2 LEPR TTC8 ALMS1 PRCD BMP2 HJV MAD2L2 SIX6 DDB2 GNRH1 ARSL ALX4 MKKS PRPF4 RAF1 RIN2 CA4 LHX4 TUB PRLR RAB3GAP2 POLR3A NR2E3 GJB2 RECQL4 POLA1 PWRN1 PRKACA CLPP USP7 PCARE CYP17A1 MT-CO2 RIT1 PPM1B CDKN1C HGSNAT EIF2S3 CTNS BMP4 NSMF PTCH1 DNM1L ARHGEF18 AMACR ITGB6 RP1 MT-TL1 CLRN1 AHR PALB2 POU1F1 OPA1 CAMKMT RNU4ATAC RFWD3 LSS A2ML1 ZBTB20 IFT74 MAP3K1 MT-TF ERCC5 GUCA1B PDE6G ZFPM2 CTNNB1 CCDC28B SLC39A4 WWOX AXL SAMD9 SLC29A3 PRDM16 ERCC1 TOPORS BBS5 IDH3B COQ2 PIK3CA SCAPER DHX37 MT-ND1 ARL2BP RRM2B CTDP1 HSD17B3 PROK2 LAS1L PDE6B FEZF1 IL17RD FANCF PEX6 NPAP1 GPR101 ABCD1 PRPF3 SPATA7 FANCC CYP19A1 BBS12 MKS1 FANCG RERE SRY ANK1 AIP RAD51 FANCI IGF1 RPGR FANCD2 TP53 NRAS CDH23 PTDSS1 TFR2 BAZ1B PDGFB MT-TS2 AHI1 CBL SIN3A SAG TRAF7 GATA4 WDPCP HERC2 IER3IP1 REV3L MRPS7 CNBP CEP290 GALT CUL4B TERT EYS PLXND1 RGR GTF2I ERCC6 XPA SDCCAG8 MAP2K1 DHX38 IDH3A RASA2 RHO AIRE RP9 SRA1 BBS7 KLHL7 SNAP29 RLBP1 SCP2 RAD51C KRAS SMARCB1 SLC3A1 AR MT-TW MKRN3 FOXA2 DHH BBS1 USH2A RP2 LZTR1 IFT172 SNORD116-1 PDE11A FAM161A RPE65 PRPH2 ROM1 TBL2 POLD1 AHSG NPHP1 SEMA4A ARL3 LRAT GABRD TULP1 SNRNP200 IFT88 DMRT3 FSCN2 MERTK SEMA3A POLR1C BBIP1 OTX2 IMPG2 POMGNT1 SMARCE1 RRAS PSAT1 TP63 ZMPSTE24 PRPF31 TGFB1 ANTXR1 PDE6A CRB1 PEX1 HP_BIFID_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_UTERUS EP300 DACT1 PHGDH CREBBP HYLS1 SALL1 HP_ABNORMALITY_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OVARY PLIN1 PIK3CA CTNNB1 LIMK1 FMR1 SDCCAG8 EIF2B3 INSR EIF2B4 F7 NR5A1 KEAP1 HNF1A FGFR1 ESR1 FSHR PTEN STK11 NPHP3 PMS2 RAD51C FSHB STAG3 EPCAM ARL6 KISS1 MAP3K1 PPARG ELN CASP10 ZFPM2 RELA BRCA1 AARS2 CCDC28B CDH1 WWOX NR0B1 FGFR2 SETD2 IDH2 SPRY4 DMRT1 TACR3 ATM FGF17 MMP14 HSD3B2 BBS5 BRIP1 DHX37 MLH3 PTCH1 MCM8 MSH2 FIGLA MSH3 PROK2 ERAL1 PLG TRIM32 LIPE PALLD CDKN2A CYP17A1 NBN SETBP1 CEP290 CYP19A1 NOBOX BMP15 BSCL2 POLG MKS1 LMNB2 SRY DICER1 PALB2 ANTXR2 LMNA DIAPH2 RAD51D WT1 WRN TGFBR2 GNRHR KRAS FLT1 FASLG WDR11 BBS4 SMAD4 FOXL2 CORIN TWNK ANOS1 AKT1 FAS INVS BRCA2 PTPN11 CDH23 DHH SDHC SOX9 CHEK2 BAZ1B EWSR1 EIF2B5 FOS CYB5A EIF2B2 GATA4 WDPCP DCAF17 HFM1 AGPAT2 NPHP1 PMM2 HS6ST1 GTF2IRD1 BBS12 CAVIN1 NUP107 FAN1 GALT NPHP4 RFC2 KLLN RAD50 B4GALNT1 MSX1 IFT27 GTF2I BBS10 FLI1 TAC3 OFD1 PROKR2 BBS9 POF1B MMP2 CLIP2 RASGRP1 NTHL1 POR BBS2 VAMP7 MRE11 AIRE TP63 BBS7 INHBA SPIDR POLR3H MCM3AP GNAS SOX3 LZTFL1 AKT2 TTI2 RIN2 CEP164 DMPK LEP TP53 PAX6 BARD1 MSH6 PMS1 SEC23B LHB DUSP6 BBS1 MEN1 RAD51 MLH1 RNF43 CBX2 IDH1 MT-CYB LEPR ALMS1 CIDEC CHD7 IQCB1 MKKS C11orf95 TBL2 SDHB C8orf37 PRKAR1A EIF2B1 PRLR CAV1 PRKN BNC1 PTCH2 LARS2 DMRT3 USF3 TRAF3IP1 AIP STOX1 MYC BBIP1 PSMC3IP GNRH1 BMP4 FGF8 NSMF IFT172 WDR19 MRPS22 CYP11B1 OPCML RCBTB1 PRKCD WNT4 KISS1R WNT10A THOC6 SUFU USP8 SDHD TTC8 HP_OVARIAN_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CYST PLIN1 SOX9 PIK3CA LIMK1 RFC2 KLLN F7 HNF1A ESR1 MSX1 PTEN STK11 GTF2I NR0B1 OFD1 PPARG ELN SRY MMP2 CLIP2 SETD2 NTHL1 POR ATM DMRT1 INSR MMP14 HSD3B2 DHX37 GNAS SOX3 AKT2 AKT1 MAP3K1 NR5A1 MSH3 LMNA LIPE SEC23B LHB CYP17A1 DHH CYP19A1 CBX2 BSCL2 MT-CYB LMNB2 ALMS1 CIDEC ANTXR2 FSHR FLT1 TBL2 SDHB PRKAR1A CORIN PRLR CAV1 AGPAT2 USF3 STOX1 SDHC BAZ1B WT1 FOS CYB5A CYP11B1 GTF2IRD1 CAVIN1 SDHD HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE PROKR2 FGA PLIN1 WNT4 EIF2B3 FLRT3 EIF2B4 F7 NR5A1 CCDC141 FGFR1 ESR1 SLC25A13 GNAS FSHR STAT5B FSHB STAG3 SERPINE1 KISS1 MAP3K1 PPARG ALMS1 NIN ZFPM2 WWOX PWAR1 SETD2 FLI1 AXL NIPBL SPRY4 PROP1 PML SLC29A3 GFI1B GP1BA TACR3 FGF8 F2 WDR11 FGF17 HSD3B2 F10 MSTO1 HFE PIK3CA ITGB3 DHX37 HPS5 HSD17B4 MCM8 POLR3B CTDP1 FIGLA BPTF HS6ST1 FMR1 PROK2 ERCC8 ERAL1 MSH5 ANOS1 GDF9 TWNK FEZF1 IL17RD PEX6 NPAP1 LIPE F5 GPR101 GP9 BCOR AKT1 CYP17A1 HESX1 ITGA2B SMC3 IRF2BP2 BMPR1B ITGA8 F8 CYP19A1 NOBOX BMP15 BSCL2 HPS4 POLG LMAN1 FANCM ZBTB16 DIAPH2 WT1 RNF216 WRN AIP SRY GNRHR NBEAL2 LMNA RAD21 FOXL2 AGGF1 NUMA1 SLFN14 RARA GHR MYH9 NDN LIG4 SMCHD1 SOX3 PTPN11 CDH23 DHH TFR2 PDGFB F11 EIF2B5 KISS1R FOS FIP1L1 PLAU CYB5A EIF2B2 WNT7A ARMC5 TRAF7 GATA4 HERC2 SUFU HFM1 CDON AGPAT2 F13A1 MAGEL2 NPM1 SMC1A FGG ROBO1 CAVIN1 NUP107 NF2 SNORD115-1 CAV1 BAP1 PSMD12 NR3C1 TERT SMO WIPF1 MEN1 MCFD2 PRKAR1A PRKACG DCC GPR161 SOX10 FGB TAC3 DUSP6 ATP7B SNRPN NABP1 POF1B PDE4D VWF AR VAMP7 WAS PRLR SRA1 TP63 INHBA SPIDR POLR3H HARS2 SYCE1 STAT3 AKT2 USP8 LEP TRMT10A SMARCB1 ERCC6 GLI2 TBL1XR1 SOX9 H6PD MKRN3 LHB FOXA2 PCSK1 CISD2 SETD5 LEPR POR SNORD116-1 BMP2 NSMF CIDEC HJV CHD7 GNRH1 SEMA3A GP1BB LHX4 EIF2B1 BNC1 NR0B1 LARS2 DMRT3 PWRN1 CLPP KMT2A PSMC3IP SEMA3E STUB1 OTX2 ESR2 SMARCE1 BLOC1S3 TKT MRPS22 CYP11B1 SOHLH1 GP6 RCBTB1 HDAC8 ANTXR1 MCM9 F13B POU1F1 PAPSS2 PEX1 HP_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMENORRHEA PROKR2 WNT4 EIF2B3 FLRT3 EIF2B4 NR5A1 CCDC141 FGFR1 ESR1 FSHR FSHB STAG3 KISS1 MAP3K1 PPARG NIN ZFPM2 WWOX PWAR1 AXL NIPBL SPRY4 PROP1 SLC29A3 TACR3 FGF8 WDR11 FGF17 MSTO1 HFE PIK3CA DHX37 HSD17B4 MCM8 POLR3B CTDP1 FIGLA BPTF HS6ST1 PROK2 ERAL1 ANOS1 GDF9 TWNK FEZF1 IL17RD PEX6 NPAP1 AKT1 CYP17A1 HESX1 SMC3 BMPR1B ITGA8 CYP19A1 NOBOX BMP15 BSCL2 POLG DIAPH2 WT1 WRN SRY GNRHR LMNA RAD21 FOXL2 NDN LIG4 SMCHD1 SOX3 CDH23 DHH TFR2 PDGFB EIF2B5 KISS1R FOS CYB5A EIF2B2 WNT7A TRAF7 GATA4 HERC2 SUFU HFM1 CDON AGPAT2 MAGEL2 SMC1A ROBO1 CAVIN1 NUP107 NF2 SNORD115-1 CAV1 BAP1 PSMD12 TERT SMO MEN1 DCC GPR161 SOX10 TAC3 DUSP6 SNRPN POF1B AR VAMP7 SRA1 TP63 SPIDR POLR3H HARS2 SYCE1 LEP TRMT10A SMARCB1 ERCC6 GLI2 AIP SOX9 MKRN3 LHB FOXA2 PCSK1 CISD2 SETD5 LEPR SNORD116-1 BMP2 NSMF HJV CHD7 GNRH1 SEMA3A LHX4 EIF2B1 PRLR BNC1 NR0B1 LARS2 DMRT3 PWRN1 CLPP KMT2A PSMC3IP SEMA3E OTX2 ESR2 SMARCE1 TKT MRPS22 SOHLH1 RCBTB1 HDAC8 ANTXR1 MCM9 POU1F1 PAPSS2 PEX1 HP_ABNORMAL_VAGINA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VAGINA_MORPHOLOGY RSPO2 WNT3 DACT1 WNT4 CEP57 RIPK4 IL17F IL17RC NAB2 WT1 RECQL4 IFT80 CCNQ FGFR2 SALL4 ARL6 MAP3K1 SPINT2 HYLS1 IRF6 ZFPM2 DHCR7 CCDC28B WWOX POR RELA GATA3 VAMP7 B3GLCT GLI3 SALL1 KIF14 HSD3B2 TCOF1 FH WDR35 MTM1 STAT6 DHX37 ARHGAP31 SRD5A2 CYP11B1 FRAS1 PAX6 SRY LONP1 JAK3 SOX9 GRIP1 POLR1C TRIP13 NR5A1 MKKS POLR1D CYP17A1 WDR34 DHH CHRM3 BUB1B ITGA8 PAX3 BBS1 CYP11A1 PPP2R1A HOXA13 WDR60 COL3A1 FREM2 DYNC2H1 IL10RB TCTN3 BCOR BUB3 AR MNX1 IL17RA NR0B1 DMRT3 BUB1 INTU UBR1 CYB5A KIF7 TP63 FREM1 GATA4 DYNC2LI1 CLEC7A COL7A1 MAMLD1 TRAF3IP2 SMAD3 TBX3 HP_DECREASED_FERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY CCDC39 CCDC8 FANCE RSPH1 PLIN1 CATSPER2 CCNO SPEF2 SPAG1 FLRT3 DAZ4 MCIDAS CCDC141 TSGA10 FANCL ZP3 GBA2 FSHR FGFR1 RFWD3 LHCGR DNAH1 MAP3K1 ZFPM2 WWOX PWAR1 BRIP1 AXL CFAP221 STRC PROP1 ERCC3 DNAAF1 RPGR FGF8 WEE2 STK36 WDR11 HSD3B2 DNAH9 DNAAF5 RSPH3 BRDT ADGRG2 DHX37 OFD1 NR5A1 RSPH4A CFAP251 POLR3B HS6ST1 HSD17B3 NME8 GAS8 ANOS1 IL17RD FANCF CFTR TBX3 NPAP1 ZP2 CCDC65 CFAP298 GTF2H5 CYP17A1 CFAP300 DAZ2 CDC14A PPP2R3C BLM AR CYP19A1 AMHR2 BMP15 FANCG SEPTIN12 TUBB8 ZMYND10 SLX4 GCM2 DNAAF4 CYP11A1 RNF216 WRN SRY ARMC4 FANCI CFAP44 FANCD2 DNAI2 TTC29 FCGR2A FANCA TEX14 NEK10 NDN ZP1 DNAI1 SOX3 CDH23 TGFB1 OBSL1 TSPY1 SOX9 HUWE1 AURKC XRCC2 KISS1R DNAAF6 MPLKIP CYB5A CCDC103 DDX3Y GATA4 UBE2T SPATA16 HERC2 MAGEL2 PNPLA6 NUP107 FANCB SNORD115-1 RAD51 MEI1 PADI6 FANCM ERCC4 SOHLH1 SLC26A8 FOXJ1 NR3C1 RAF1 GAS2L2 PMFBP1 DCC MAP2K1 CCDC151 SUN5 SOX10 DUSP6 DNAL1 CATSPER1 PTPN11 TACR3 SNRPN TLE6 LMNA FEZF1 FGF17 HESX1 VAMP7 PRLR SRA1 RSPH9 SPIDR AMH USP9Y POLR3H GNRHR ARMC2 DNAH5 DMPK RAD51C SRD5A2 BRCA2 TTC12 GLI2 CCDC40 PATL2 FSHB BRAF H6PD FOXL2 MKRN3 FOXA2 WT1 NANOS1 DHH BRCA1 CHRM3 MEN1 LRRC6 PROK2 DNAJB13 POR SNORD116-1 PROKR2 NSMF FSIP2 HJV RBMY1A1 MAD2L2 DAZ1 CUL7 GNRH1 CFAP43 FANCC LHX4 DNAAF3 TTC25 CEP19 DNAAF2 PGR BNC1 NR0B1 DRC1 DMRT3 PWRN1 AGPAT2 SEMA3E DAZ3 SYCP2 QRICH2 GALT STUB1 AIP SEMA3A PSMC3IP SPRY4 OTX2 HYDIN BSCL2 CHD7 CTNS CCDC114 LRRC56 ZMPSTE24 MRPS22 CYP11B1 MEIOB KLHL10 PLCZ1 PANX1 PALB2 TEX11 AK7 POU1F1 USP8 DNAH11 HP_VAGINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_ATRESIA ITGA8 RSPO2 FRAS1 DYNC2LI1 ARL6 WNT3 POR GRIP1 CCDC28B MKKS FGFR2 WT1 BBS1 KIF14 FREM2 GATA3 HP_OVARIAN_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_GONADOBLASTOMA GATA4 MAP3K1 WT1 SOX9 ZFPM2 WWOX DHX37 NR5A1 NR0B1 DMRT3 VAMP7 SRY HP_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOBLASTOMA DHH WT1 DHX37 NR5A1 KCNQ1 MAP3K1 SRY KCNQ1OT1 IGF2 GATA4 PAX6 SOX9 ZFPM2 WWOX NR0B1 DMRT3 CDKN1C AR VAMP7 HP_APLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_UTERUS TP63 FGFRL1 AR CTBP1 CPLX1 NSD2 WNT4 RBM8A LETM1 CYP11A1 PPP2R1A TOE1 ARID1B WNT7A GATA3 MYRF HP_WIDE_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_MOUTH PPM1D PIGY CUL4B SOX4 DACT1 DHCR7 SMARCD1 LIMK1 RFC2 TRIO ARID1A KLHL15 SMARCC2 ADAT3 TCOF1 GPC4 LIG4 STRADA NONO ARID1B GTF2I TWIST2 TCF4 IDUA DPF2 GPC3 ELN UBE3B RPS6KA3 KCNN3 STXBP1 ATRX STAG1 CC2D2A SRCAP ANKRD11 GATAD2B RNF113A DDX11 CLIP2 ACTG1 IRX5 PSPH QRICH1 ADSL MED13L MTOR PIGL AP4M1 SEC23A KCNMA1 NRXN1 ATP6V1B2 AP4S1 INSR SF3B4 KCNH1 CDC42 GNS AP4B1 SOX11 AUTS2 SMARCA2 PACS2 AP4E1 RAF1 ZNF148 IFT140 UBE2A NSUN2 ROR2 KCNK4 KCNJ8 POLR1C HDAC6 TRRAP BRPF1 POLR1D TRIP12 CD96 SNIP1 ZMYND11 ACTB SETBP1 OFD1 ALG9 RPGRIP1L NXN PACS1 DPYD TMCO1 TTC37 WDR4 GALNS MKS1 SET MED12 UBE3A MGAT2 SMARCE1 CDKL5 PIK3CA SH3PXD2B GLB1 TMEM70 SMARCB1 TBL2 FAM20C SALL1 MECP2 TALDO1 AGA PIGN GABBR2 NALCN MBD5 FLCN HECW2 KDM6B ABCC9 HUWE1 SSR4 SMARCA4 PTDSS1 ATIC ASXL3 TMEM67 HNRNPH2 ARID2 BAZ1B MED13 CENPF B3GLCT NTNG1 PGAP1 ZSWIM6 RAI1 ACTL6B LARP7 MAP2K1 ADAMTSL2 PMM2 GTF2IRD1 ERLIN2 WDR73 AP1S2 ADNP HP_ORAL_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_ULCER TCIRG1 IL7R IL23R IL12A CAT HLA-B ERAP1 SLC46A1 CCR1 ELANE SRP54 DCLRE1C TNFAIP3 SPP1 KLRC4 CD40LG MEFV C4A IL12A-AS1 UBAC2 TLR4 PTPRC IL10 NOD2 STAT4 RELA SLC37A4 IRAK1 FAS GFI1 HP_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE SNX14 CCDC47 GLI3 TMEM231 LIMK1 PRRX1 ELP1 FKRP WDPCP AFF4 DDX59 IL36RN FOXG1 CRPPA COG7 GPC3 ELN CASP10 SLC6A19 CEP55 GMPPB COL2A1 ATRX MED13L MED25 ATP6V1B2 PKP1 CLIC2 KCNH1 LIMS2 PEX1 WDR35 CC2D2A PEX6 ACVRL1 TELO2 ROR2 POLR1D AKT1 FIBP SNIP1 HRAS SETBP1 KDM5C RPGRIP1 VPS33A CEP120 TBCD NKX2-1 MYMK EDNRA MT-TW PEX10 NEK1 MAN2B1 GPC4 COL7A1 INSR OTX2 FRAS1 CHRNG FASLG DVL1 FAM20C C2CD3 SMARCB1 PAX8 PLAGL1 SNRPB AGA MCTP2 NFIX CEP290 TSHB PSMB8 RERE PEX12 MAPK1 B9D1 LAMA2 ARSB CHUK LAMB3 SDHC SGCG TMEM67 KY OFD1 CPLANE1 MMP1 HYMAI GNPTAB IGF2 SUFU WNT5A TAF1 EDN1 GTF2IRD1 SLC26A4 NF2 MYH3 RBM10 TSHR ALS2 PEX14 RIPK4 SLC52A2 RFC2 RAB3GAP1 SMO LMBRD1 TRAF3IP2 ALX3 FOXE1 BAP1 POMGNT1 POMT1 CLIP2 POMT2 KCNMA1 POMK SLC5A5 FUCA1 WNK1 SOX5 NOP56 WNT10A FLNA ERLIN2 DNMT3B DMPK DUOX2 BCR TBCK LAMC2 RETREG1 ZBTB24 DVL3 RNF125 PTDSS1 IDS POLR1C SEC23B ECM1 WDR34 CSPP1 GSN EHMT1 TCTN2 GNAI3 GAA MKS1 KCNK9 SLC25A24 TRPV3 KCNQ1OT1 VPS13B DYNC2H1 TCTN3 PIK3C2A PEX13 RAB3GAP2 SMN1 MTPAP SLC52A3 CDKN1C COL11A1 PTEN PIGS COL5A2 NKX2-5 INTU RUNX2 CCDC22 KCNQ1 BMP4 FAS TMEM107 FTO PEX2 SLC25A21 PRKAG2 PDE6D SDHD SOX9 AIFM1 LIFR PIK3CA CSNK2B DHCR7 SH3TC2 ARID1A KAT6B IFT80 PEX16 SMN2 MT-TE SLC39A4 LAMA3 FZD2 PEX5 ABCC9 PLCB4 IFT140 PEX26 COL11A2 GPR101 TMEM216 FIG4 TRIM37 AGTPBP1 PEX19 ADPRS RSPO2 NXN GJB2 NFASC UBE3A TBX15 HELLS RBBP8 AIP KIAA0753 WDR60 FREM2 TRMU PIGW MBTPS2 MORC2 PTPN22 EXOSC3 AMPD2 BAZ1B PDGFB GJB6 TBX22 PTH1R RPGRIP1L SERPING1 TRAF7 SLC46A1 DUOXA2 REV3L PANK2 RMND1 CUL4B PEX11B TERT KLLN ENG FAM149B1 GATA1 PLXND1 GTF2I TPO INPP5E PQBP1 KCNN3 ATP13A2 B9D2 RASGRP1 CRKL FAM111A NRXN1 ECEL1 CDCA7 KIF7 TCOF1 KRT6A KIF1A VPS13A ASAH1 TSPYL1 ACTB FRG1 COL5A1 HEXB THRA GRIP1 TUBB4A POP1 IYD TG POU1F1 MGAT2 COL1A1 TBL2 TGDS SDHB OPTN LARGE1 VCP IL6ST VAC14 USF3 SCN9A SMARCA4 PERP PEX3 SMARCE1 BTK IDUA TRHR PRKCD UBA1 FXR1 LMNB2 FDX2 HP_MACROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGLOSSIA TSHR SNX14 SLC26A4 VPS33A CUL4B PIK3CA CCDC47 LIMK1 RFC2 ARID1A KLLN FKRP GATA1 GPC4 AFF4 GTF2I TPO FOXG1 INPP5E CRPPA TRAF3IP2 PQBP1 MT-TE GPC3 SETBP1 TSHB HRAS ELN FOXE1 KCNN3 POMGNT1 POMT1 GMPPB CLIP2 ATRX POMT2 MED13L KCNMA1 ATP6V1B2 POMK SLC5A5 FUCA1 CDCA7 KCNH1 LIMS2 EHMT1 TBCK DNMT3B DUOX2 ACTB ZBTB24 IFT140 RNF125 HEXB THRA IDS GPR101 SEC23B PAX8 FIBP MAN2B1 POP1 SNIP1 AKT1 GAA IYD NKX2-1 TG MT-TW POU1F1 UBE3A HELLS INSR AIP KCNQ1OT1 TBL2 DVL1 SDHB SMARCB1 ROR2 PLAGL1 LARGE1 AGA TRMU PIK3C2A PIGW IL6ST PSMB8 CDKN1C NKX2-5 USF3 LAMA2 PTEN ARSB SMARCA4 PIGS SDHC AMPD2 BAZ1B SGCG KCNQ1 HYMAI GNPTAB IGF2 IDUA FTO WNT5A TRHR DUOXA2 PEX1 ABCC9 GTF2IRD1 DVL3 PRKAG2 ERLIN2 SDHD FDX2 HP_ABNORMAL_LIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIP_MORPHOLOGY PROKR2 CTBP1 GLI3 CAMTA1 CLCN4 INSR FRMD4A IL17F NEK9 AMMECR1 KCNAB2 POMT1 ARID1B TCF4 GPC3 EDA2R RRAS2 CLP1 UBE3B STIL UPF3B NEB SIX3 RPL5 CLTC ATRX ADSL SIX1 IRF6 MED25 DYNC2LI1 CBL YAP1 PUS7 LTBP3 GJA1 CHD7 COLEC10 COX7B ARHGEF6 KMT2A TGIF1 SHOC2 GLI2 SF3B4 GLA WDR35 NFIX PTCH1 RUNX2 BPTF NCAPG2 SEC23A RAF1 IREB2 KCNK4 FGFR1 HDAC6 ARX ORC6 NECTIN1 HRAS CDK6 SETBP1 CDH1 RAI1 TFAP2A KCNH1 PDGFRB SEMA3E CHST14 IL1RN GATAD2B BCOR KIT IFT43 HDAC8 CKAP2L EDNRA ESCO2 MRAS NEK1 MECP2 OCLN TAB2 POMGNT1 CHRNG DVL1 INPPL1 KMT2D BRAF PAX3 AFF2 AGA RAD21 HGSNAT COL2A1 OFD1 DHODH CASK NALCN MBD5 GREB1L RPS28 SLC26A2 FLCN RPS6KA3 COL11A1 PSMB8 ABCA12 FOXC2 TRIP11 KDM6B KDM1A KLHL7 TBR1 DSE KRAS BRF1 FBXO11 FAR1 RAB18 PHGDH ARHGEF2 TAF1 EVC2 TBC1D20 IL1B ABCC8 NKX2-5 NTNG1 TOE1 ZFPM2 PHC1 FGF8 SALL4 CRTAP OCRL ZSWIM6 MEOX1 GATA6 WNT5A NEXMIF ALX4 HSD17B4 MAGEL2 LTBP4 PMM2 GTF2IRD1 LARP7 UFD1 LETM1 TDGF1 SNORD115-1 AP4B1 MYH3 WT1 TGM1 SPECC1L TRIO TBX1 RAB3GAP1 ACTA1 GPC4 LMBRD1 PPP2R5D XRCC4 FGFR2 DPF2 C12orf57 DIS3L2 LFNG SUMF1 ANKRD11 EXTL3 DEAF1 SIN3A SNRPN CUL7 CLIP2 ALX3 ERCC2 COMT POMT2 GLIS3 PEX26 SMAD4 LBR NCAPD3 PLAA TP63 EFTUD2 MAFB PCGF2 ATP6V0A2 NANS DMPK HIRA BCR TBCK IQSEC2 STAG2 CPLX1 OTUD6B TMEM94 UGP2 STK11 WDR34 ATP6V1B2 ZNF41 SOS1 CYP24A1 COG6 EZH2 KIF14 TBC1D24 EDARADD TMCO1 NSD2 GATA5 WNT3 MKS1 TRPS1 FZD2 KCNK9 MED12 FGD1 RPS17 NBAS GATA4 CHAMP1 SH3PXD2B SYP VPS13B PACS1 NODAL TALDO1 RIN2 DYNC2H1 PRDX1 SMARCE1 SLC9A7 NAA10 HECW2 RPL35A PWRN1 XYLT2 PBX1 PPP2R1A BDNF HUWE1 BRAT1 PIGN PIGT RPL10 RPL31 RIT1 CILK1 RPL15 NOG ARID2 TUBB XYLT1 TPM3 EIF2S3 IGF1R CYB5R3 FAT4 PDHA1 BCL11B TAPT1 NBN KDM5B DLL1 ALG8 RPL27 IFT122 RET CDC6 LIPN THOC6 POU1F1 SDR9C7 ABCC9 CCDC8 CSNK2B RNU4ATAC DHCR7 MSX1 GPC6 ACSL4 MYO18B MGP RTTN IL17RC SC5D STRADA NF1 A2ML1 FKRP MAPK8IP3 SNAI2 MCPH1 SMARCD1 HES7 TGFB3 CDK5RAP2 GRHL3 BRCA1 PGAP3 PIGL QRICH1 CPLANE1 B3GALT6 AMER1 RPS26 CYP4F22 B3GLCT HCFC1 PRDM16 ERCC1 MEF2C EDA GNA14 FTSJ1 PUF60 PROP1 GMNN PUS1 RPS29 COLEC11 ARHGAP31 TXNL4A RREB1 TWIST2 LAS1L DDRGK1 TMEM237 AP4M1 SELENON TRAF6 BMP2 PAH RPS10 RSPRY1 PITX2 DCPS CHSY1 ALG12 ACTB PRKDC FBN1 ALG9 TRMT10A TONSL NXN TNNI2 TBCE NKAP COG1 MAP3K7 RPS7 IFT57 ADGRG6 WDR60 SMARCB1 FLT4 ALOXE3 PPP2R3C MFSD2A SHH KCNJ2 PIGW POR CNTNAP1 SLC25A24 CNKSR2 MMACHC LARGE1 MBTPS2 NEU1 DISP1 ERCC5 JAG1 RIPK4 SLC39A4 RYR1 DVL3 ASPM CEP63 EEF1A2 BAZ1B PAFAH1B1 ATIC CCBE1 DOCK7 UBA1 PTH1R HS6ST2 FREM1 PIGO ATP7A EXOSC2 SMOC1 ZDHHC9 GP1BB RHOBTB2 REV3L NONO ACTG1 MAP11 PTCHD1 CERT1 CRLF1 TET3 PGAP2 KDF1 ATN1 NLRP1 COL3A1 ADAT3 SRD5A3 TWIST1 ERCC6 WDR19 YWHAE EXT2 SMC3 EPG5 MAP2K2 HYLS1 APC BCL11A MUSK KIF15 WDR26 CHST3 IRX5 CRKL ZNHIT3 ZBTB20 FAM20C INS IFT81 AP4S1 CDK13 HOXB1 PIGV TCOF1 ERF TAF6 SMC1A ALG13 ADAMTS3 GBA PACS2 PAK3 CAST JUP CDC42 ALG1 TBL1XR1 DLL3 MPC1 FLII SETD5 MYL2 FRMPD4 LZTR1 SNORD116-1 ALOX12B KIF11 POGZ TFAP2B MGAT2 PPP2CA CNTNAP2 ALDH6A1 CDT1 CTCF SLC6A17 HIC1 DHX37 DMD SUMO1 PHIP MAN1B1 GABRD TRAPPC4 CDK10 COPB2 ATP6V1E1 ITGA8 OTX2 NOTCH3 RPS19 RRAS IARS2 KIF7 CUL4B BUB1B NFIB MAB21L1 SNRPB WNT4 PIGG ANTXR1 IDUA SUFU ZNF81 SNX14 PPM1D SMS PIGY LIMK1 FMR1 EDAR FGF20 KIFBP AFF4 DDX59 FOXG1 MAPRE2 KCNJ11 CCNK COG7 LIG4 ELN FOXH1 DPM2 PWAR1 ADAM22 PORCN RAB39B CLIC2 FGFRL1 CDKL5 DYRK1A FKTN NSDHL CEP135 SOX11 KANSL1 KNL1 AP4E1 PIEZO2 EVC KIF1A ACVRL1 ROR2 HMGA2 DCHS1 POLR1D TRIP12 FIBP MCOLN1 IL1RAPL1 DENND5A CACNA1C SMARCA2 KDM5C MTOR SRCAP VPS33A ZC4H2 FLI1 AGL FRAS1 GAS1 TMEM70 MIR140 UNC80 MCTP2 AP3D1 ARVCF MID2 RERE NDN MAPK1 GCK MASP1 EXT1 MYH8 RPL11 SKI HNRNPH2 ABHD5 MED13 TSPAN7 DHX30 KAT6A GNPTAB VAX1 LEMD3 BMP1 ASXL3 MAF SOS2 CTNND1 RFC2 PSMD12 FLNB CDH11 METTL23 MOCS2 CCNQ MEIS2 FOXP1 LMNA KCNMA1 OPHN1 FUCA1 MYCN JMJD1C TCF20 GRIA3 ZBTB18 HESX1 RPS27 SLC25A46 TTI2 FGF3 MED13L AUTS2 STXBP1 NELFA CENPJ SYT1 IDS POLR1C TRRAP RAB11B NFIA CITED2 ECM1 COL7A1 CXorf56 EMC1 DPM1 EYA1 EHMT1 PHF8 HOXD13 SLC35A1 SOX4 ZNF711 SASS6 SULT2B1 SON KDM6A NUP107 ARID1A CSNK2A1 GDI1 LHX4 TCTN3 RAB3GAP2 POLR3A IL17RA PYCR2 CDC45 PTCH2 KCNJ6 AP1S2 SATB2 PIGS DDX3X USP9X INTU HDAC4 SEC24C CCDC22 ANKLE2 NSUN2 PRMT7 SMARCC2 RIPPLY2 SHANK3 GDF1 PPP1CB PTPRF RPS24 NAGA GATA1 IFT80 TSPEAR MYMK ALG11 PARS2 SMG9 YARS2 PYCR1 CLCF1 CDON NIPBL GNE SLC29A3 YY1 HSPG2 RPL26 GNS INTS1 SCARF2 ZNF148 UBE2A ADNP EXOC6B COL11A2 NPAP1 MESP2 ADAMTS2 GPR101 CNOT1 FLNA P4HTM TCTN2 FIG4 ZIC2 RSPO2 CTNNB1 TTC37 DLX4 ASXL1 NRXN1 TAF13 PTRH2 SLC2A10 NIPAL4 MLXIPL AIP FREM2 PCLO RPGRIP1L CYB5A UGDH GABBR2 ORC1 LMX1B MCM5 TPM2 NRAS SSR4 PREPL PTDSS1 OBSL1 MAP2K1 CHN1 AMPD2 KMT2C WAC SMARCA4 NDP SLC45A1 HACD1 RBMX MOCS1 ITGA7 HERC2 SLC46A1 SMO IER3IP1 ADAMTSL2 PLOD3 TRAF3IP2 TRAPPC9 RIC1 NKX2-6 NOTCH2 ATP6V1A RPS15A ENG PLXND1 GTF2I MID1 IFT52 PAM16 LRP4 WDR62 PTEN USP27X PPP1R15B RASA2 KCNE5 PDE4D METTL5 ZBTB16 KREMEN1 RPL18 CYP26C1 KRT6A DNMT3A ACER3 TSR2 TENM3 AGTR2 PQBP1 GLI1 PAX6 FOXC1 KCNJ8 ORC4 GRIP1 MKRN3 BRPF1 FOXA2 IFIH1 ADAMTSL1 KAT6B EBF3 SCYL2 NSD1 WDR4 CAMK2G CEP152 PDX1 ADA2 AVP PIK3CA PTPN11 PHF21A SET HNRNPU MARS2 DLG3 FBXL4 TBL2 TGDS MSX2 RNF135 ERMARD SUZ12 RPL35 GJA5 TUBGCP2 FERMT1 VAC14 FHL1 CC2D2A EFNB1 SLC35A2 CWC27 EIF2AK3 PSAT1 ZMPSTE24 CLEC7A MAP3K20 KLHL41 CIT ERLIN2 EED AP3B1 CD96 SOX18 HP_NARROW_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_MOUTH SMS RSPO2 CAMTA1 TRIP4 YWHAE RTTN B4GALT7 TUBB PRRX1 KCNAB2 PAFAH1B1 TCOF1 CHST14 RECQL4 AMMECR1 MAPK8IP3 LTBP3 COG7 TNNI2 MED12 MYH3 CLCF1 PTEN LAMA3 PRDM16 CHRNG BPNT2 BMP2 HSPG2 GJA1 GSC ORC6 COL11A2 NFIX FLNA AUTS2 TXNL4A RREB1 PLCB4 PIEZO2 SPEG SEMA3E UBE3B CHD7 POLR1D FAT4 DCPS RIPK4 ALDH18A1 TRMT10A TTC37 RERE CTCF SEPTIN9 MECP2 COL7A1 OTX2 FAM20C PQBP1 GNAI3 ORC1 ARVCF PIGA AKT3 MCM5 COG1 MAPK1 DSE DONSON FBXO11 SKI LAMB3 TNNT3 PIK3CA CCBE1 RYR1 SIN3A FBN1 MMP1 FGFR2 PIK3R2 TLK2 TBX4 MAF GP1BB LMNA EDN1 UFD1 CCND2 RPL10 NOTCH2 FREM2 WNT3 CRLF1 CHST3 ATP6V0A2 TP63 NONO ZMPSTE24 EIF4A3 TWIST1 LMX1B NALCN DHCR24 EP300 PPP1R15B PAX3 APC MUSK EXTL3 CRKL POGZ COMT ZBTB20 ZBTB16 GMNN PTCH1 SH2B1 CDK13 IARS2 JMJD1C BMPR1A SMAD4 TRMT5 TAF6 DCHS1 ITGA3 TBC1D20 PCGF2 AKT1 RLIM HIRA ADAMTS3 GBA BCR LAMC2 STXBP1 CREBBP ORC4 POLR1C BRPF1 NFIA TBX1 BIN1 SCYL2 COL11A1 B3GAT3 SON SLC25A24 MAPRE2 CDT1 POLD1 SP7 POLR3A CDC45 CHSY1 TTN CDC6 CANT1 GABRD MYBPC1 HUWE1 SATB2 PIGN COL2A1 SEC24C TPM2 HIVEP2 IGF1R BPTF BCL11B COL3A1 PHACTR1 OSGEP HP_MEDIAN_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP FZD2 SLC2A10 GLI3 HESX1 TGIF1 INTU PROP1 OTX2 WNT5A NEK1 OFD1 DDX59 ZSWIM6 DVL3 PTCH1 GLI2 LHX4 SMO TCTN3 DVL1 HYLS1 PIGN SIX3 GJA1 FOXA2 ALX3 RIPK4 FAM20C POU1F1 HP_GLOSSOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSOPTOSIS RBM10 RSPO2 GNAI3 PLCB4 TCOF1 MYMK EDNRA RUNX2 COL2A1 NFASC PEX16 FLNA AFF4 EDN1 BTK TGDS SNRPB COL11A2 NFIX POLR1C POLR1D VAC14 FIG4 COL11A1 SOX9 HP_ABNORMALITY_OF_THE_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTITION WNT10B TWIST1 KMT2D SMARCAL1 CTBP1 CAMTA1 WNT10A ELMO2 EDARADD TCIRG1 CLCN4 IL17F AMMECR1 SPRY4 SLC13A5 ARID1B PTEN STAT3 TP63 HEPHL1 TCF4 EDA2R KISS1 UBE3B UPF3B SIX3 ATRX FGF23 DYNC2LI1 TACR3 NSD1 FGFR3 KCNH1 FGF17 PUS7 GJA1 LRP5 SCN8A ARHGEF6 SH3BP2 KMT2A SHOC2 BANF1 HCCS PPIB WWOX CCR6 GFPT1 LGI4 PTCH1 DSP EXT1 RUNX2 BPTF NUP133 LAMC2 SEC23A ANOS1 GREM2 FGFR1 USH1C FAM111A ARX NPHS1 NECTIN1 RNF113A SETBP1 RAI1 TFAP2A ROR2 SMCHD1 PLEC XRCC4 CEP120 GATAD2B GNAS BCOR IFT43 CKAP2L EDNRA RMRP GALNT3 NEK1 MECP2 NUP107 COL7A1 MAP3K7 PTCH2 INSR NFIX CACNA1B TAB2 GLB1 GNRHR DVL1 WDR11 SMARCB1 SUFU NRAS RAD21 TGFA RSPO1 DHODH MBD5 KRT5 FLCN RPS6KA3 COL11A1 AMELX ABCA12 KDM6B KDM1A LYST BRF1 COL17A1 RAB23 ENAM FLRT3 ORAI1 GJB6 CHD3 EVC2 SEC24D KISS1R ROGDI MPLKIP DLX3 TENT5A OFD1 FAM20A MMP1 ALKBH8 FGF8 SSR4 FGFR2 OCRL ZSWIM6 SMOC2 ALPL DCAF17 ACTL6B WNT5A TINF2 EEF1A2 MAGEL2 KCNB1 USH1G GTF2IRD1 LARP7 UFD1 LETM1 KRT14 TDGF1 SNORD115-1 SH3PXD2B TBCE ATP6V1B2 LRP6 TRIO IRF5 CSTB RAB3GAP1 ERCC6 GPC4 ZMPSTE24 TONSL DCC DPF2 C12orf57 EP300 COL1A1 CLTC ANKH ANKRD11 DEAF1 SIN3A SNRPN PDE4D CLIP2 ALX3 COMT HESX1 PAX9 CLCN7 PLEKHM1 ERCC3 DSPP DCHS1 UBA5 SOX5 APC PCGF2 ATP6V0A2 ENPP1 HIRA DKC1 RBM28 IQSEC2 AKT1 TGM1 PTDSS1 CPLX1 CREBBP PLG DNAJC21 PARS2 DUSP6 HBB ZNF41 COG6 NALCN GNAI3 TERT NSD2 C8orf37 KLK4 MKS1 TRPS1 PROKR2 CAT CHD7 KCNK9 DDB2 MED12 FGD1 TRPV3 PLK4 ANAPC1 SYP VPS13B PACS1 NODAL RIN2 CTSC FBN1 MYH3 SMARCE1 TGFB1 SLC9A7 CHSY1 PIK3R1 TERC PHEX NAA10 CNNM4 PWRN1 AGA HUWE1 PIGT KCNQ1OT1 FGF12 COL5A2 BLM LEMD3 ABL1 CILK1 ATR TRAIP COL1A2 ARID2 SLC35C1 XYLT1 HMGB3 GDF5 RELT TNFRSF11A CLDN1 EIF2S3 PGAP1 EVC FAT4 NSMF SOS1 PRKAR1A DLX4 BCL11B KCNA2 ERCC4 DLL1 CTC1 IFT122 KRT6A RECQL4 SMAD3 POLR3A HDAC8 LIPN THOC6 ITGB4 SDR9C7 P4HB CCDC8 DNM1 SOX4 DHCR7 MSX1 NSDHL PRDM5 ACSL4 SCN3A IL17RC CEP152 NF1 MAPK8IP3 SMARCD1 ERCC5 ALMS1 GRHL3 KRAS BRCA1 CCDC28B MSX2 PIGL PTH1R AMER1 LAMA3 CYP4F22 B3GLCT HCFC1 PTPN22 FZD2 EDA PLOD1 CD247 LMNA IFT52 NHP2 KRT81 UROS HS6ST1 RREB1 IFT140 TRAF6 BMP2 LBR RSPRY1 PITX2 TMCO1 TRIM37 CDH1 HLA-DRB1 TRMT10A NXN GALNS LOX GJB2 AMBN ANTXR2 UBE3A MAN2B1 IKBKG IFT57 POLR3B MYO7A H19 SOX18 PPP2R3C KAT6B SHH KCNJ2 SLC25A24 CNKSR2 TMEM165 MBTPS2 DISP1 CTNND1 LIFR ANKRD55 DVL3 FLNA IL11RA SUMO1 BAZ1B CYFIP2 CCBE1 IRF6 SMOC1 ZDHHC9 TBX4 UBR1 PCDH15 KCTD1 GP1BB REV3L NONO DLG1 GFI1 PTCHD1 CERT1 KDF1 PLCB4 PCNT COL3A1 ADAT3 LIG4 HOXD13 WDR19 MAP2K1 SMC3 HRAS KIF15 WDR26 POF1B ATRIP BRAF CHST3 IRX5 GRHL2 AIRE FAM83H CBS TCOF1 SNAP29 TAF6 RPS23 DPH1 ALG13 CENPJ KIF1C ADAMTS3 PUF60 PAK3 SPART TNFRSF11B PRKD1 GLI2 EDAR CDC42 ERCC2 TBX1 TBL1XR1 TBC1D24 FKBP10 POP1 NECTIN4 POC1A COL2A1 FLII CYP27B1 SETD5 FRMPD4 SNORD116-1 ALOX12B DOCK7 BBS1 AXIN2 CUL7 GLI3 FGF10 MGAT2 PARN SERPINH1 CTCF RBBP8 DHX37 AHCY DMD CXCR4 IL6ST TBCD CDK10 ATP6V1E1 PERP POLR1C GNRH1 GABRA5 NOTCH3 CLDN19 KIF7 CYP2R1 CUL4B NDUFB11 SNRPB SETD2 PEX1 LAGE3 CCN2 ANTXR1 KDM6A TBX3 FEZF1 B4GALT7 EFL1 ZNF81 SNX14 SMS NKX2-1 CCDC47 PDGFRB TMEM231 LIMK1 WDR35 MMP13 DDX59 SUOX ARL6 ELN CTSK FOXH1 STAG1 DPM2 SLC1A2 PWAR1 TWIST2 C1R MED13L PORCN ELANE NGF WRAP53 RAB39B TSC1 FGFRL1 WDR4 SYNJ1 ITGA6 TRAK1 XPC RHOA SOX11 KANSL1 AEBP1 ERCC8 MMP20 USH2A TNFSF11 AGXT HMGA2 POLR1D MCOLN1 SPECC1L IL1RAPL1 SHANK3 CACNA1C GABRA2 SMARCA2 MMP2 KDM5C CA2 HSPA9 MYSM1 IL2RA FRAS1 GAS1 FAM20C C2CD3 MCTP2 ARVCF MID2 CDH3 TGIF1 NDN MASP1 LAMB3 CREB3L1 NTRK1 CCDC141 TSPAN7 KAT6A FARS2 ASXL3 MAF SMC1A TECPR2 EDN1 HNRNPK ADGRV1 ITGB6 CACNA1A RPL10 ACP5 RIPK4 RFC2 PSMD12 FLNB GABRG2 CDH11 ADAMTS10 GTPBP2 SRP54 KRT16 CAV1 MEIS2 FOXC1 LTBP3 SOX10 ACOX1 STIM1 GORAB NECAP1 DSE KCNMA1 SZT2 KRT86 C1S NHS CHRNE JMJD1C GRIA3 AARS1 ACVR1 VDR TTI2 JUP GHR OSGEP ASPH FGF3 SIX1 NELFA YWHAG NSUN2 IDS SBDS NFKBIA SLC24A4 IL2RB ZNF469 ZEB2 IDUA PEX6 PTPN11 TARS1 ZNF711 B3GAT3 SULT2B1 SON STX16 ALX4 COL5A1 AMTN ARID1A SP7 GDI1 PIK3C2A RAB3GAP2 IL17RA EFNB1 PTHLH PPP1R15B SATB2 ALDH3A2 PIGS DHDDS TFAP2B USP9X INTU SEC24C IFITM5 HCN1 SYNGAP1 GPC3 ACD PPP1CB SMARCC2 KRT17 ABCA5 NOP10 TSPEAR FTSJ1 COX7B ATP6V1A SLC10A7 TTC7A CDON NIPBL GTF2H5 YY1 DSG4 HSPG2 CXorf56 CTDP1 SCARF2 PROK2 SEMA3E IL17RD ADNP NTRK2 LONP1 NPAP1 ADAMTS2 GPR101 FERMT1 WHRN FIG4 GTF2E2 ZIC2 SFRP4 ZNF341 AIMP2 PDZD7 NIPAL4 MLXIPL TRIP11 AIP RUSC2 FREM2 IGF1 APC2 EYA1 PIGA EXT2 TPRKB SLC39A13 ACP4 OBSL1 FOXE3 RTEL1 SNX10 SMARCA4 ALOXE3 CDH23 HERC2 AP3B2 RDH11 TRAF3IP2 RIC1 SOST STXBP1 DMP1 NUS1 CENPE ARHGAP29 NOTCH2 WDR72 GRIN2D PLXND1 EIF4A3 GTF2I XPA LAS1L LRP4 TAC3 USP27X SOBP KCNN3 KCNE5 KRT83 NPM1 KREMEN1 DPP6 IGF2 EHMT1 GPR68 COX4I2 SLC29A3 DNMT3A ARV1 AGTR2 PTPN2 GLI1 THRA BBS4 EBP GRIP1 MKRN3 CRLF1 IFIH1 WDR73 ADAMTSL1 PCYT1A ORC1 SIM1 TP53RK STAT4 SET PAX1 PPP3CA DLG3 GABRB2 MAPRE2 TBL2 CIB2 POLD1 PEPD BMP4 TUBGCP2 VAC14 ITGB2 SGMS2 ESPN SEMA3A PYROXD1 EIF2AK3 SKI USB1 KRT6B CLEC7A ODAPH GUSB AP3B1 FUCA1 HP_ABNORMALITY_OF_THE_GINGIVA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GINGIVA ABCC9 FGA CYBA DHCR7 ELMO2 LIMK1 F7 SC5D ABCA5 NOP10 NTRK1 STAT5B OSTM1 ELN ALMS1 SLC6A19 NXN TERT C1R ELANE EMC1 ATP6V1B2 GNAQ NGF WRAP53 PML SLC29A3 GP1BA STAT3 TSC1 INSR FZD2 KCNH1 F10 PRF1 SCARB2 ITGB3 CTSC AEBP1 PLG CD40LG KIF1A TSC2 ROR2 LBR KCNK4 WDR26 FGFR2 ADAMTS2 GP9 BCOR HYLS1 REST FERMT1 TMCO1 ITGA2B F5 FIG4 SETBP1 IRF2BP2 CYBC1 MMP2 AIMP2 MYD88 LMAN1 ZBTB16 MYSM1 C1S ANTXR2 MAN2B1 F2 FCGR2C DVL1 COL3A1 FAM20C PLAGL1 MBTPS2 NFIX CNTNAP1 NUMA1 PIGA RARA KIF7 NCF4 LYST DVL3 BAZ1B RTEL1 CCBE1 SOS1 KCNJ6 FAM20A FIP1L1 FGB HYMAI MMP14 OCRL WNT5A GBA MPL IER3IP1 TINF2 F13A1 NPM1 GTF2IRD1 FGG DSP SH3PXD2B GFI1 NOTCH2 RFC2 KLLN SBDS WIPF1 SLC17A5 SRP54 GTF2I PRKAR1A IFNG NCF2 ZNHIT3 TET2 KIF23 WAS SAMD9 KCNN3 EXTL3 GNPTAB NABP1 CLIP2 GORAB KCNMA1 GLB1 SMAD4 PDGFRB KRT6A NOTCH3 RIN2 FGF3 ADAMTS3 TBCK COL5A1 TBL1XR1 ECM1 TBC1D24 TERC HPS1 CYBB IDUA TCIRG1 CAT MGAT2 TRPV3 COL1A1 PARN VPS13B TBL2 RMRP GP1BB DHCR24 F8 TCTN3 SERPINF2 CXCR4 VAC14 ITGB2 AGA PIGN PIGS COL5A2 NCF1 PERP USP9X NHP2 SLC35C1 BLOC1S3 USB1 CTC1 PRMT7 FAT4 DKC1 MCFD2 F13B B4GALT7 GUSB AP3B1 CD96 JAK2 HP_GINGIVAL_FIBROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_FIBROMATOSIS REST TSC1 KCNH1 TSC2 DHCR24 ELMO2 KCNN3 PDGFRB ANTXR2 NOTCH3 ABCA5 SOS1 FAM20C ATP6V1B2 IFNG HP_MICROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGLOSSIA GLI3 PTDSS1 DHCR7 SMO PRRX1 PLCB4 GNAI3 MYMK COL7A1 NEK1 EDN1 ECM1 TBX15 OTX2 TRIM37 BMP4 RBBP8 LMNB2 HP_ABNORMALITY_OF_THE_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UVULA FANCE PIGY HYAL1 SMARCD1 TMEM231 FANCM PLCB4 ERCC4 HAAO B4GALT7 PGM1 CDH11 KAT6B SELENOI FANCL UBB TP63 DDX59 RECQL4 EIF4A3 RFWD3 ALG3 AMMECR1 DHCR24 TGFB3 LARGE1 POLA1 TGFB2 WDR35 KCNN3 SIX3 NXN FKRP BRIP1 FGFR2 RNU4ATAC AMER1 SEC23A ATP6V1B2 GLI3 COL4A1 KIF14 GMNN CRPPA KCNH1 SMAD4 RPL5 POMGNT2 ORC6 PIGO PIEZO2 BGN TXNL4A PIGL SIX1 RAD51C AEBP1 BRCA2 TGFBR2 SMS IFT140 RXYLT1 SPEG TBX1 FANCF GRHL3 ORC4 SHH COL2A1 HYLS1 BIN1 BRCA1 POMK SMCHD1 MAP3K7 TTC37 FANCG SMAD3 MAD2L2 SLX4 FANCC DAG1 ROR2 FANCI PIGW TCTN3 BCOR GNAI3 SETD5 POMGNT1 EYA1 FANCD2 TBCE ORC1 CDC45 TTN CDC6 POMT2 B4GAT1 SLC39A13 FANCA KIF7 PTDSS1 FKTN PHGDH USP9X KMT2C B3GALNT2 XRCC2 XYLT1 SPECC1L TGFBR1 TBX22 RYR1 CDT1 COL11A1 EDN1 BMP4 IRF6 SERPING1 PSAT1 STAC3 UBE2T FTO PGAP3 POMT1 SON PALB2 PGAP2 FANCB PIGV RAD51 HP_ABNORMAL_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALATE_MORPHOLOGY GNB1 TWIST1 PROKR2 KMT2D POLR1A CTBP1 GLI3 ELMO2 CHD7 PIGH HAAO NEB NEK9 BLNK POMT1 TCOF1 ARID1B SOX9 TCF4 GPC3 KISS1 RRAS2 CLP1 UBE3B UPF3B SIX3 FGFR2 RPL5 BRIP1 DDX11 KRAS MOGS CLTC COL2A1 SIX1 IRF6 MED25 MFAP5 SPRY4 STAT3 TACR3 NSD1 YAP1 FGFR3 BPNT2 KCNH1 FGF17 PUS7 LRP5 COLEC10 HSPG2 KMT2A GSC TGIF1 SHOC2 GLI2 PEX1 SF3B4 CC2D2A COL11A2 NFIX BGN DHPS MYH3 TPM2 GFPT1 LGI4 PTCH1 ATP7A SEC23A AGRN ANOS1 DGCR8 AK9 MEGF10 TWNK COLQ FGFR1 GJA1 NECTIN1 HRAS TBX1 RNF113A SETBP1 CDH1 RAI1 TFAP2A SMCHD1 SEMA3E PIGQ CHST14 CHRND RPGRIP1 CEP120 ESS2 IL1RN INPP5E GATAD2B PIEZO2 BCOR EDNRA COL6A1 MRAS PEX12 SLX4 PEX10 NEK1 ESCO2 MAP3K7 INSR OCLN TAB2 GNRHR CHRNG DVL1 WDR11 COX8A BRAF RAD21 NEDD4L BUB3 DHODH CEP290 CASK GREB1L RPS28 PURA FLCN EXOSC9 COL11A1 LRP12 ATRX FANCA HOXA2 FOXC2 KLHL7 DGCR6 TBR1 DSE PEX7 DDHD2 RAB23 RAB18 GEMIN4 PHGDH DOCK3 ARHGEF2 FLRT3 CHD3 TAF1 SEC24D XRCC2 TBC1D20 KISS1R TMEM67 IL1B WNT4 OFD1 FBXL3 TOE1 CDON HYMAI FGF8 SALL4 OCRL EBP MEOX1 WNT5A HSD17B4 UFD1 LETM1 FANCB TDGF1 SH3PXD2B AP4B1 PIGY SPECC1L SH2B1 CEP57 SMARCD1 FANCM TRIO RAB3GAP1 COX6B1 SELENOI ACTA1 GPC4 LMBRD1 ZMPSTE24 PPP2R5D DCC COX14 EP300 LFNG ALX3 ANKRD11 DEAF1 SIN3A CHRNB1 COMT POMT2 HESX1 WDPCP ACTG2 PIGP CRPPA DOK7 PEX26 FANCL SMAD4 ERF ERCC3 PLAA TP63 EFTUD2 MAFB MCM3AP SOX5 PEX5 PCGF2 PDHX ATP6V0A2 ERLIN2 HIRA BCR CEP41 TGFBR2 FBN1 SRY CPLX1 TGFBR1 CREBBP OTUD6B MN1 GNAO1 SEC23B SLC25A1 DUSP6 IGLL1 SOS1 TPM3 MYH2 ALX4 AKT1 TBC1D24 RRM2B TMCO1 GNAI3 NSD2 MT-CYB WNT3 MKS1 TRPS1 PEX2 KCNK9 TNNT3 MAD2L2 MED12 FGD1 RPS17 GATA4 CHAMP1 VPS13B NODAL RAF1 RIN2 KCNA1 MYPN PEX13 SMARCE1 DGCR2 SLC18A3 KIAA1109 NAA10 HECW2 RPL35A HUWE1 ARX PTEN RPS26 BRAT1 PIGN PIGT COL5A2 ABL1 RPL31 RIT1 CILK1 RPL15 ARID2 TUBB TNNI2 CDC45 XYLT1 EIF2S3 IGF1R ALX1 FAT4 EYA1 NALCN ERCC5 NSMF KIAA0556 DLX4 GRHL3 TAPT1 NBN DLL1 RPL27 IFT122 PMM2 RET SMAD3 HDAC8 PALB2 PEX16 TUBB6 THOC6 POU1F1 PDE6D OTX2 SDHD GMPPB PIK3CA COL13A1 DHCR7 KLHL41 MSX1 NSDHL PRDM5 CHRNA1 MYO18B SC5D STXBP1 TCTN3 EIF2AK3 RECQL4 PPP1CB A2ML1 FKRP TACO1 COL6A2 HES7 TGFB3 NUP188 POLA1 RPS6KA3 BRCA1 PGAP3 CCDC28B MSX2 PIGL CPLANE1 B3GALT6 AMER1 B3GLCT TUBB3 FZD2 FLNB POMGNT2 MSTO1 LMNA TBCK PROP1 GMNN HYOU1 PUS1 RPS29 COLEC11 ARHGAP31 TXNL4A HS6ST1 MBTPS2 RREB1 FOXE1 IFT140 PEX11B AP4M1 SELENON LAGE3 BMP2 LBR COL12A1 PAH COX10 WASHC5 SCN2A MKKS TMEM216 RPS10 CHSY1 PEX19 NXN NID1 ACTA2 SLC12A6 SEMA5A LOX MYL1 COG1 NFASC COA8 TBX15 PRKG1 RB1 MUSK SMARCB1 CLCF1 SHH TRMU KCNJ2 CNTNAP1 MYH7 FANCD2 LARGE1 DISP1 GNPAT AEBP1 RIPK4 RYR1 DVL3 FLNA CENPF CCBE1 SOX2 PIGO SMOC1 EARS2 ZDHHC9 TLK2 ACTB GP1BB REV3L NONO EFL1 DLG1 RAD51 SLC26A2 HYAL1 CRLF1 TET3 PGAP2 PLCB4 ATN1 HPGD COL9A3 KIAA0586 SLC17A5 ADAT3 LIG4 ZIC2 ALG3 MAP2K1 PAX3 SMC3 EPG5 MAP2K2 HYLS1 APC IGBP1 CHST3 SPEG RNU4ATAC IRX5 CRKL FAM20C ECEL1 AP4S1 POLR1D CBS PIGV TAF6 RPS23 SMC1A TBX22 FH RLIM RAD51C DIS3L2 CTNND2 PGM3 ERCC2 DLL3 CD96 DPH1 FLII SETD5 MYL2 LZTR1 CCDC22 C12orf57 PNKP BMP4 MYOD1 KIF7 POGZ BBS1 COL6A3 PPP2CA CHAT ALDH6A1 KDM5C CTCF SLC6A17 UBB DHCR24 PIGW SUMO1 GDF6 TBCE PHIP CDK10 ATP6V1E1 ITGA8 GNRH1 NOTCH3 SLC25A19 RPS19 AHI1 RRAS ZSWIM6 MAT2A TECR CUL4B BUB1B RPL11 SNRPB SETD2 SCN1B ANTXR1 TBL1XR1 KDM6A FEZF1 SUFU OSGEP SNX14 SMS SHOX GLE1 CCDC47 TMEM231 CFL2 SOX3 MPLKIP B4GALT7 PAFAH1B1 INPPL1 FBN2 FGF20 CD79A AFF4 DDX59 MAPRE2 AMMECR1 ARL6 SIX5 CTSK FOXH1 DPM2 CEP55 ADAM22 ATR MED13L PORCN ATP6V1B2 KIF14 FGFRL1 FUT8 DBH ORC6 RUNX2 MTM1 FKTN SOX11 KANSL1 SLC5A7 PEX6 KIF1A ACVRL1 TELO2 ROR2 WDR26 TWIST2 DCHS1 TRIP12 NLRP3 RARS2 SLC25A22 SCN4A SRCAP HSPA9 WDR4 LTBP2 MYMK ZC4H2 FLI1 FRAS1 GAS1 C2CD3 CHRNE PLAGL1 PQBP1 MEGF8 SKI MIR140 MCTP2 CEP152 ARVCF COL9A2 PRUNE1 RERE MAPK1 MASP1 B9D1 EXT1 CTU2 HBA1 DONSON PTPN11 IQSEC2 SDHC SLC35D1 HNRNPH2 DST CCDC141 DHX30 POLR1C TBX2 VAX1 STAMBP UBE2T HERC1 ASXL3 EDN1 HNRNPK SOS2 SPTBN4 STAG1 ALG14 MYH11 NUP88 CTNND1 RBM10 MYO9A PEX14 SEPTIN9 ERCC4 DMXL2 CDH11 ADAMTS10 SNAP25 MEIS2 ZNHIT3 DPAGT1 SOX10 ZBTB24 FRMPD4 ELN MYCN JMJD1C MECP2 COA3 GRIA3 RPS27 RPS7 SLC25A46 GNAS ENPP1 CNTN1 BRCA2 NELFA RXYLT1 PAX1 NSUN2 FOXL2 TRRAP RPGRIP1L DDR2 COL1A2 ECM1 LRP4 FGF9 ALG2 CSPP1 WDR35 DPM1 ZEB2 BMPER DLX5 HOXD13 TCTN2 SOX4 TARS1 B3GAT3 SIX2 SON SLC25A24 FKBP14 NUP107 RMRP ARID1A SP7 CSNK2A1 LHX4 RAB3GAP2 POLR3A CPT2 EFNB1 CDKL5 TTN GJB2 CDC6 PTCH2 B4GAT1 KCNJ6 EFEMP2 BUB1 AP1S2 MYLK SATB2 ABCC6 COX20 DDX3X USP9X INTU GBA SEC24C DYNC2H1 NEUROD2 PYCR2 TMEM107 FTO SYT2 LAMB2 RIPPLY2 FANCE SHANK3 SCO1 TRIP4 YWHAE VAMP1 RPS24 SMARCC2 PGM1 GATA1 G6PC3 DLG3 KAT6B STAG2 RBM8A RFWD3 ZBTB20 MT-TE PSAT1 TGFB2 SMG9 YARS2 IGHM SLC10A7 PET100 NIPBL GNE GTF2H5 LMOD3 LRRC8A KIFBP RPL26 NPHP1 SMARCA2 INTS1 SCARF2 PROK2 GDF3 IL17RD FANCF EXOC6B TRIP13 MESP2 CNOT1 SPRED1 PHF8 FIG4 B9D2 GTF2E2 KAT6A ZNF341 CTNNB1 RAPSN TTC37 FARSB FANCG PPP3CA ZNF469 YY1 ASXL1 SLC2A10 ANK1 RNASEH1 RUSC2 FREM2 PCLO FANCI PRRX1 POMGNT1 APC2 ORC1 PIGA AIFM1 SLC39A13 LMX1B NRAS PRMT7 BIN1 PTDSS1 CHN1 KMT2C SMARCA4 CBL HACD1 TRIM8 SERPING1 ITGA7 MT-TN FOXP2 SMO IER3IP1 RIC1 PUM1 DPF2 MAF ARHGAP29 LOXL3 NOTCH2 PEX3 ATP6V1A RPS15A KLLN ENG FAM149B1 NEFL PLXND1 WNT7A TBX4 EIF4A3 MID1 TAC3 KCNN3 RASA2 KBTBD13 THOC2 ATAD1 COG5 COL4A1 RPL18 COL9A1 TMEM237 BMPR1A STAC3 CYP26C1 IBA57 TBX6 KIAA0753 TSR2 COL5A1 HERC2 ORC4 GRIP1 KDM1A ARCN1 FOXA2 CD79B SIM1 TRPV4 OBSL1 POMK ADA2 ARNT2 SET HNRNPU FANCC AP4E1 COL1A1 PTPN14 PAK3 SIK1 DAG1 TGDS SIK3 SDHB ERMARD RPL35 VAC14 TCF3 PIK3R1 USF3 GATA3 SEMA3A B3GALNT2 CDT1 PYROXD1 MAP3K20 KPTN MAMLD1 FOXE3 WDR73 COL3A1 HBA2 HP_SUBMUCOUS_CLEFT_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_HARD_PALATE ZEB2 POMK TP63 CDH11 SMCHD1 HYAL1 ESS2 PIEZO2 ZMPSTE24 KAT6B LIG4 KRAS PPP2R5D DAG1 BCOR DHCR24 BRAF LARGE1 TCTN3 MAP2K2 DGCR2 POMGNT1 SIX3 ORC1 CDC45 FKRP CDC6 POMT2 B4GAT1 RNU4ATAC DGCR6 KIF7 COL4A1 GMNN CRPPA PTDSS1 FKTN SMAD4 MAP2K1 PHGDH POMGNT2 ORC6 LMNA B3GALNT2 CDT1 PSAT1 DGCR8 RXYLT1 FOXP2 NSUN2 ORC4 POMT1 COL2A1 HYLS1 TBX1 AMER1 HP_ABNORMALITY_OF_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP PROKR2 CTBP1 GLI3 CAMTA1 CLCN4 NEK9 KCNAB2 POMT1 ARID1B TCF4 GPC3 EDA2R CLP1 UBE3B STIL UPF3B NEB SIX3 CLTC ATRX ADSL IRF6 MED25 CBL YAP1 PUS7 LTBP3 GJA1 CHD7 COLEC10 COX7B ARHGEF6 KMT2A TGIF1 SHOC2 GLI2 SF3B4 WDR35 NFIX PTCH1 RUNX2 BPTF NCAPG2 SEC23A IREB2 KCNK4 FGFR1 HDAC6 ARX NECTIN1 CDK6 SETBP1 CDH1 RAI1 TFAP2A KCNH1 PDGFRB SEMA3E CHST14 IL1RN GATAD2B BCOR KIT HDAC8 CKAP2L ESCO2 NEK1 MECP2 OCLN TAB2 CHRNG DVL1 INPPL1 BRAF PAX3 RAD21 COL2A1 OFD1 DHODH CASK NALCN MBD5 GREB1L SLC26A2 FLCN RPS6KA3 COL11A1 FOXC2 TRIP11 KDM1A KLHL7 TBR1 DSE KRAS BRF1 FBXO11 FAR1 RAB18 PHGDH ARHGEF2 TAF1 TBC1D20 IL1B ABCC8 NTNG1 TOE1 PHC1 FGF8 CRTAP OCRL MEOX1 WNT5A NEXMIF ALX4 HSD17B4 MAGEL2 LTBP4 PMM2 GTF2IRD1 LARP7 UFD1 LETM1 TDGF1 SNORD115-1 AP4B1 MYH3 SPECC1L TRIO RAB3GAP1 ACTA1 GPC4 LMBRD1 PPP2R5D FGFR2 DPF2 C12orf57 DIS3L2 LFNG SUMF1 ANKRD11 EXTL3 DEAF1 SIN3A SNRPN CUL7 CLIP2 ALX3 COMT POMT2 GLIS3 PEX26 SMAD4 NCAPD3 PLAA TP63 EFTUD2 PCGF2 ATP6V0A2 DMPK HIRA BCR TBCK IQSEC2 CPLX1 OTUD6B TMEM94 UGP2 WDR34 ATP6V1B2 ZNF41 EZH2 KIF14 TBC1D24 TMCO1 NSD2 WNT3 MKS1 TRPS1 FZD2 KCNK9 MED12 FGD1 NBAS CHAMP1 SH3PXD2B SYP VPS13B PACS1 NODAL TALDO1 DYNC2H1 PRDX1 SMARCE1 SLC9A7 NAA10 PWRN1 XYLT2 PBX1 PPP2R1A HUWE1 BRAT1 PIGN PIGT RPL10 CILK1 NOG ARID2 TUBB XYLT1 TPM3 EIF2S3 IGF1R FAT4 PDHA1 BCL11B TAPT1 NBN DLL1 ALG8 EVC2 RET CDC6 THOC6 POU1F1 ABCC9 CCDC8 CSNK2B RNU4ATAC DHCR7 MSX1 GPC6 MYO18B MGP RTTN SC5D STRADA FKRP MAPK8IP3 SNAI2 MCPH1 SMARCD1 HES7 TGFB3 CDK5RAP2 GRHL3 BRCA1 PGAP3 PIGL QRICH1 CPLANE1 B3GALT6 AMER1 B3GLCT HCFC1 PRDM16 MEF2C EDA PUF60 PROP1 PUS1 COLEC11 ARHGAP31 TXNL4A RREB1 TWIST2 LAS1L TMEM237 AP4M1 SELENON BMP2 PAH RSPRY1 DCPS CHSY1 ALG12 ACTB PRKDC FBN1 ALG9 TRMT10A NXN TNNI2 TBCE NKAP COG1 MAP3K7 RPS7 IFT57 ADGRG6 WDR60 SMARCB1 PPP2R3C MFSD2A SHH KCNJ2 PIGW POR CNKSR2 MMACHC LARGE1 DISP1 RIPK4 RYR1 DVL3 ASPM CEP63 EEF1A2 BAZ1B PAFAH1B1 ATIC CCBE1 DOCK7 UBA1 PTH1R FREM1 PIGO ATP7A EXOSC2 SMOC1 ZDHHC9 GP1BB RHOBTB2 NONO ACTG1 ERCC1 MAP11 PTCHD1 ACSL4 CERT1 CRLF1 TET3 PGAP2 ATN1 NLRP1 COL3A1 TWIST1 YWHAE EXT2 SMC3 EPG5 MAP2K2 HYLS1 APC BCL11A MUSK KIF15 WDR26 CHST3 IRX5 CRKL ZNHIT3 FAM20C INS IFT81 AP4S1 CDK13 HOXB1 PIGV TCOF1 TAF6 SMC1A ALG13 ADAMTS3 GBA PACS2 PAK3 JUP CDC42 TBX1 TBL1XR1 DLL3 MPC1 FLII SETD5 MYL2 FRMPD4 SNORD116-1 KIF11 POGZ TFAP2B PPP2CA CNTNAP2 ALDH6A1 CTCF SLC6A17 HIC1 DHX37 DMD SUMO1 PHIP MAN1B1 GABRD TRAPPC4 CDK10 COPB2 WDR19 ATP6V1E1 ITGA8 OTX2 NOTCH3 ZSWIM6 IARS2 KIF7 CUL4B BUB1B NFIB MAB21L1 SNRPB WNT4 PIGG RPS19 ANTXR1 SUFU ZNF81 SNX14 PPM1D SMS PIGY LIMK1 FGF20 KIFBP AFF4 DDX59 FOXG1 MAPRE2 AMMECR1 KCNJ11 CCNK COG7 ELN FOXH1 DPM2 PWAR1 PORCN RAB39B CLIC2 FGFRL1 IFT43 DYRK1A FKTN NSDHL CEP135 SOX11 KANSL1 KNL1 AP4E1 PIEZO2 KIF1A ROR2 DCHS1 POLR1D TRIP12 IL1RAPL1 DENND5A CACNA1C SMARCA2 KDM5C MTOR EDARADD SRCAP ZC4H2 FLI1 AGL FRAS1 GAS1 TMEM70 MIR140 UNC80 MCTP2 AP3D1 ARVCF MID2 RERE NDN MAPK1 GCK MASP1 EXT1 MYH8 SKI HNRNPH2 MED13 TSPAN7 KAT6A GNPTAB VAX1 BMP1 MAF CTNND1 RFC2 PSMD12 FLNB CDH11 METTL23 MOCS2 CCNQ MEIS2 KCNMA1 OPHN1 JMJD1C TCF20 GRIA3 ZBTB18 RPL5 HESX1 SLC25A46 ERCC6 FGF3 AUTS2 CDKL5 STXBP1 NELFA CENPJ SYT1 KDF1 POLR1C TRRAP RAB11B NFIA CXorf56 EMC1 DPM1 PHF8 HOXD13 SLC35A1 SOX4 ZNF711 SASS6 SON SLC25A24 NUP107 ARID1A CSNK2A1 GDI1 LHX4 TCTN3 RAB3GAP2 POLR3A PYCR2 PTCH2 KCNJ6 AP1S2 SATB2 PIGS DDX3X USP9X INTU SEC24C CCDC22 ANKLE2 NSUN2 PRMT7 SMARCC2 RIPPLY2 SHANK3 PPP1CB PTPRF STAG2 IFT80 MYMK FTSJ1 ALG11 PARS2 YARS2 CLCF1 CDON NIPBL GNE HRAS SLC29A3 HSPG2 INTS1 ZNF148 ADNP EXOC6B COL11A2 NPAP1 MESP2 CNOT1 TCTN2 FIG4 ZIC2 RSPO2 CTNNB1 TTC37 DLX4 YY1 ASXL1 NRXN1 TAF13 PTRH2 SLC2A10 MLXIPL FREM2 PCLO RPGRIP1L UGDH GABBR2 EDAR LMX1B TPM2 UBE2A SSR4 PREPL OBSL1 MAP2K1 AMPD2 WAC SMARCA4 SLC45A1 HACD1 MOCS1 ITGA7 HERC2 SMO IER3IP1 ADAMTSL2 PLOD3 TRAPPC9 RIC1 NOTCH2 NRAS ATP6V1A GTF2I MID1 PAM16 LRP4 WDR62 FLNA PTEN USP27X PPP1R15B PDE4D METTL5 EHMT1 CYP26C1 DNMT3A RIN2 ACER3 TENM3 AGTR2 PQBP1 KCNJ8 GRIP1 MKRN3 BRPF1 FOXA2 IFIH1 ORC4 ADAMTSL1 KAT6B EBF3 NSD1 WDR4 CAMK2G CEP152 PDX1 AVP PIK3CA PHF21A HNRNPU MARS2 DLG3 TBL2 TGDS MSX2 RNF135 ERMARD SUZ12 TUBGCP2 VAC14 CC2D2A EFNB1 PSAT1 MAP3K20 EVC KLHL41 CIT ERLIN2 EED PITX2 AP3B1 CD96 HP_ABNORMALITY_OF_LOWER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIP ABCC9 SMS CCDC8 IGF1R CAMTA1 LIMK1 PHGDH PPP1CB CLCN4 ARID1A MYO18B RPS24 SMARCC2 FRMD4A GATA1 WDR35 STRADA KIFBP ARID1B FOXG1 FTSJ1 A2ML1 LTBP3 SMARCD1 EDA2R RRAS2 KIF11 ELN RPS6KA3 UPF3B TFAP2A SMG9 RPL5 QRICH1 ATRX AMER1 NAGA MED25 RPS26 CYP4F22 HRAS RAB39B HCFC1 ERCC1 CLIC2 INSR PUS7 IFT122 EDA ARHGEF6 YY1 SHOC2 HSPG2 CDKL5 RPL26 GLA GNS RPS29 DYRK1A CXorf56 SOX11 KANSL1 SMARCA2 SCARF2 COL11A1 ADNP BMP2 ADAMTS2 GPR101 ARX EDARADD ORC6 RPS10 MCOLN1 PITX2 ABCA12 IL1RAPL1 KCNH1 FGD1 IFT43 EDNRA MRAS NFIX NIPAL4 MLXIPL AIP POMGNT1 SMARCB1 ALOXE3 AGA HGSNAT UGDH SLC25A24 MBD5 CNKSR2 RPS28 EDAR NEU1 MID2 PSMB8 NRAS ERCC5 MECP2 RPL11 FBXO11 SPECC1L OBSL1 ASXL3 CHN1 EEF1A2 ABHD5 BAZ1B KMT2C SMARCA4 CBL TSPAN7 DHX30 SIN3A FBN1 IRF6 RBMX SALL4 OCRL ZSWIM6 REV3L GTF2IRD1 SOS2 DPF2 WT1 PTCHD1 ACSL4 CUL4B RFC2 RPS15A CDH11 RAB3GAP1 PLXND1 SRD5A3 MSX1 RAF1 GTF2I ERCC6 WDR19 IFT52 IDUA USP27X RASA2 BCL11A KIF15 CUL7 CLIP2 ERCC2 ANTXR1 ZBTB20 PIGL KCNMA1 RPL18 FUCA1 MYCN EHMT1 RPS27 MAFB RPS7 ALG13 ACER3 TSR2 NANS MED13L AGTR2 GBA IQSEC2 KRAS PAX6 PAK3 TGM1 FOXC1 IDS ECM1 TBL1XR1 TBC1D24 ZNF41 SOS1 CYP24A1 ORC1 ADA2 FRMPD4 LZTR1 PTPN11 C12orf57 SOX4 ZNF711 ALOX12B DOCK7 SULT2B1 DLG3 FBXL4 RPS17 MGAT2 SMARCE1 KDM6A CHAMP1 DEAF1 SYP CDT1 TBL2 RNF135 RIN2 GDI1 RPL35 DMD RAB3GAP2 SLC9A7 HECW2 RET RPL35A MED12 FHL1 BDNF PIGN GRHL3 RPL10 RPL31 RIT1 RPL15 TFAP2B ARID2 RPS19 RRAS PSAT1 USP9X RPL27 LIPN THOC6 ZNF81 SDR9C7 HP_THICK_LOWER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_LOWER_LIP_VERMILION ABCC9 PTCHD1 ACSL4 SMS CUL4B CAMTA1 LIMK1 PHGDH RFC2 PPP1CB CLCN4 ARID1A RPS15A RPS24 SMARCC2 CDH11 GATA1 SRD5A3 STRADA ARID1B RAF1 GTF2I FTSJ1 A2ML1 LTBP3 SMARCD1 RRAS2 FBN1 HRAS USP27X KIF11 ELN RPS6KA3 RASA2 UPF3B KIF15 SIN3A SMG9 RPL5 CUL7 CLIP2 ANTXR1 FRMD4A ATRX ZBTB20 AMER1 NAGA PIGL RPS26 RAB39B HCFC1 RPL18 FUCA1 INSR ARHGEF6 YY1 SHOC2 RPS27 RPS7 CDKL5 RPL26 GLA GNS RPS29 DYRK1A ALG13 ACER3 TSR2 NANS CXorf56 AGTR2 SOX11 IQSEC2 KRAS COL11A1 PAK3 ADNP IDS GPR101 ARX ORC6 ECM1 RPS10 TBC1D24 ZNF41 IL1RAPL1 SOS1 CYP24A1 ORC1 SMARCA2 ADA2 FRMPD4 LZTR1 PTPN11 C12orf57 SOX4 ZNF711 KCNH1 MRAS DLG3 RPS17 SMARCE1 MLXIPL AIP DEAF1 SYP SMARCB1 CDT1 TBL2 RNF135 RIN2 GDI1 AGA RPL35 DMD UGDH SLC9A7 CNKSR2 RPS28 NEU1 MID2 HECW2 RET PSMB8 RPL35A MED12 NRAS RPL11 RPL31 RIT1 RPL15 ARID2 BAZ1B SMARCA4 RPS19 CBL TSPAN7 RRAS RBMX MECP2 USP9X RPL27 GTF2IRD1 SOS2 DPF2 ZNF81 HP_LOBULATED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBULATED_TONGUE C2CD3 TMEM216 OFD1 CEP120 KIF7 TMEM231 MKS1 KIAA0753 FAM149B1 CPLANE1 TCTN3 PDE6D DDX59 HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE EDN1 ALS2 VPS13A FRAS1 ERLIN2 PLCB4 ATP13A2 GNAI3 TUBB4A MTPAP HP_DIFFICULTY_IN_TONGUE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS EDN1 ALS2 VPS13A FRAS1 ERLIN2 PLCB4 ATP13A2 GNAI3 HP_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_SOFT_PALATE PIGY HYAL1 SMARCD1 TMEM231 PLCB4 HAAO B4GALT7 PGM1 CDH11 KAT6B SELENOI TCOF1 UBB TP63 DDX59 RECQL4 EIF4A3 ALG3 AMMECR1 DHCR24 TGFB3 LARGE1 POLA1 TGFB2 KCNN3 SIX3 FKRP FGFR2 MSX2 RNU4ATAC AMER1 SEC23A ATP6V1B2 GLI3 COL4A1 KIF14 GMNN CRPPA KCNH1 SMAD4 RPL5 POMGNT2 ORC6 PIGO PIEZO2 BGN TXNL4A PIGL SIX1 TGFBR2 SMS KCNK9 IFT140 RXYLT1 SPEG TBX1 GRHL3 ORC4 SHH COL2A1 HYLS1 BIN1 POMK SMCHD1 MAP3K7 TTC37 SMAD3 NEK1 FKBP14 DAG1 PIGW TCTN3 BCOR GNAI3 SETD5 POLR3A POMGNT1 EYA1 TBCE ORC1 CDC45 TTN CDC6 POMT2 B4GAT1 SLC39A13 KIF7 PTDSS1 FKTN PHGDH USP9X KMT2C B3GALNT2 XYLT1 SPECC1L TGFBR1 TBX22 RYR1 SLC25A19 CDT1 COL11A1 EDN1 BMP4 IRF6 PSAT1 STAC3 FTO SNRPB PGAP3 POMT1 SON PGAP2 PIGV HP_BROAD_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_ALVEOLAR_RIDGES ARX DHCR7 GJA1 ZC4H2 ASXL1 FIG4 VAC14 RERE TBC1D24 GPC4 GPC3 OFD1 SETBP1 DIS3L2 HP_SHORT_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UPPER_LIP FGFRL1 CTBP1 ATRX GRIA3 CPLX1 NSD2 AMPD2 FIG4 VAC14 LETM1 EMC1 TWIST2 HP_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALATE TWIST1 ELMO2 ATN1 MPLKIP GNE NOTCH3 NEK9 ADAMTS10 ACTA1 FBN1 NONO WNT7A DDX59 FGFR2 SMAD3 MAP2K1 LRP4 FGFR3 MFAP5 PTEN GPC3 ARL6 EP300 HRAS TGFB2 PIGT UBE3B RPS6KA3 CTSK DVL1 MUSK BRCA1 CCDC28B SIN3A SMG9 PEX5 LOX COL12A1 ELN CRKL SETBP1 ANTXR1 MED25 GTF2H5 GMNN NSD1 FZD2 BMPR1A GRIA3 ERF ERCC3 TGFB3 ORC6 TBCK MCM3AP RUNX2 SLC25A46 SOX5 CNTN1 KANSL1 SMARCA2 BCR SCARF2 AEBP1 VPS13B DIS3L2 SMS DVL3 COL5A1 PIEZO2 HERC2 TBX1 NAA10 TGFBR1 BRAF TWIST2 CREBBP ORC4 ERCC2 SPRED1 TBC1D24 RARS2 FIG4 GTF2E2 RNF113A WASHC5 DPM1 KDM5C PTPN11 CCDC22 RAB18 ACTA2 TARS1 BCOR NIPBL ASXL1 NEB BBS1 KCNK9 WNT5A SMAD4 TRPS1 SLC25A24 GPC4 COL1A1 MAP3K7 PRKG1 SLC6A17 PCLO ERMARD RECQL4 MEGF8 SKI TCTN3 CPT2 ORC1 CDC45 CDC6 HECW2 RET TGFBR2 KCNJ6 VAC14 PRUNE1 APC MED12 MAPK1 MYLK CDK10 COL5A2 PTDSS1 INTU CHD3 TAF1 CCBE1 CDT1 COL11A1 TBX2 MAT2A TECR OCRL ATP7A FOXP2 TPM3 ASXL3 ABCC6 IFT122 PEX1 KLHL41 FOXE3 MYH11 ARID2 COL3A1 AMER1 HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY RSPO2 NXN EFTUD2 RIPK4 FAM149B1 FLNA NEK1 COL7A1 TCTN3 IFT57 DDX59 C2CD3 TMEM216 FREM1 WDR35 SETD5 CRKL FAM111A CPLANE1 KLHL7 TBR1 LAMA3 MAPK1 DYNC2LI1 B3GLCT GLI3 LAMB3 KIF7 OFD1 EVC2 KIAA0753 SPECC1L TBX22 EVC MMP1 BCR ASXL1 LAMC2 GLI1 IFT140 TELO2 ROR2 TBC1D24 CD96 PDE6D COL3A1 HP_ACCESSORY_ORAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_ORAL_FRENULUM C2CD3 IFT140 DYNC2LI1 EFTUD2 OFD1 CPLANE1 IFT57 KLHL7 CD96 DDX59 ASXL1 GLI3 TCTN3 HP_OPEN_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_MOUTH RAC1 NRAS CSNK2B SLC16A2 MBD5 TET3 CCDC88A ATN1 SLC6A8 PLXND1 STRADA NONO INPP5E ZNHIT3 FOXP1 DIS3L2 RPS6KA3 PARS2 EXTL3 DEAF1 SIN3A PDE4D CLTC BRAF ADAM22 POGZ MED13L MTOR RAI1 HRAS MEF2C PUS7 TCF20 GRIA3 AHI1 SLC9A6 PPP2R5D NFIX KANSL1 GBA VPS13B DGCR8 TMEM237 KIF1A AKT1 TUBB4A CCDC174 TBC1D24 FAM149B1 DENND5A OGT TBX1 FLII KCNH1 ESS2 NKAP ELN KCNK9 MED12 MGAT2 PPP2R1A MLXIPL CHAMP1 PAK3 UNC80 SOX11 PIGN DGCR2 PURA ATRX KCNJ6 DGCR6 LAMA2 PIGT IQSEC2 SOX5 DST SLC35A2 UBA1 EIF2S3 MAGEL2 AP1S2 POMT2 KIF7 IL1RAPL1 PRKAR1A OCRL ZSWIM6 ANKLE2 NEXMIF ASXL3 TCF4 REV3L HNRNPK HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY TP63 BTNL2 FGFR3 FGFR2 TCOF1 FGF10 CXCR4 ATP2A2 HLA-DRB1 HP_TONGUE_NODULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_NODULES RBM10 TMEM216 OFD1 KIF7 KIAA0753 FAM149B1 ECM1 NEK1 CPLANE1 TCTN3 PDE6D HP_SHORT_LINGUAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LINGUAL_FRENULUM SPECC1L FREM1 TBC1D24 WDR35 B3GLCT HP_PIERRE_ROBIN_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIERRE_ROBIN_SEQUENCE DGCR8 MAP3K7 RBM10 ESS2 BMP2 DGCR2 MYMK COG1 COL2A1 PGM1 COL11A1 COL11A2 SLC10A7 FLNA DGCR6 AMER1 EIF4A3 TBX1 HP_ORAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CLEFT GNB1 TWIST1 PROKR2 KMT2D POLR1A CTBP1 GLI3 CHD7 HAAO POMT1 TCOF1 ARID1B TP63 SOX9 GPC3 KISS1 NEB SIX3 RPL5 BRIP1 COL2A1 SIX1 IRF6 MED25 SPRY4 STAT3 TACR3 YAP1 BPNT2 KCNH1 FGF17 COLEC10 HSPG2 TGIF1 GLI2 SF3B4 WDR35 CC2D2A COL11A2 NFIX BGN PTCH1 ANOS1 DGCR8 MEGF10 B9D1 GJA1 NECTIN1 TBX1 CDH1 RAI1 TFAP2A SMCHD1 SEMA3E PIGQ CHST14 CHRND RPGRIP1 CEP120 ESS2 IL1RN INPP5E PIEZO2 BCOR EDNRA ESCO2 TCTN2 SLX4 FGFR1 NEK1 GNRHR CHRNG DVL1 WDR11 BRAF RAD21 NEDD4L BUB3 DHODH CEP290 DDX3X GREB1L RPS28 ARL3 COL11A1 FANCA HOXA2 FOXC2 KLHL7 DGCR6 TBR1 DSE KRAS PEX7 TCTN1 PHGDH FLRT3 XRCC2 KISS1R TMEM67 IL1B WNT4 OFD1 CDON FGF8 SALL4 FGFR2 EBP MEOX1 ARL13B WNT5A CEP104 UFD1 LETM1 FANCB TDGF1 KIAA0586 MYH3 SPECC1L SH2B1 CEP57 SMARCD1 FANCM POU1F1 SELENOI LHX4 GPC4 ZMPSTE24 PPP2R5D DCC LFNG ALX3 ARMC9 DEAF1 PHF6 COMT POMT2 HESX1 WDPCP ACTG2 PIGP CRPPA DOK7 FANCL SMAD4 EFTUD2 MAFB PEX5 HIRA BCR CEP41 TGFBR2 CPLX1 GNAO1 WDR34 DUSP6 ALX4 TMCO1 GNAI3 NSD2 MT-CYB WNT3 MKS1 PEX2 MAD2L2 FGD1 RPS17 NODAL DYNC2H1 KCNA1 SMARCE1 DGCR2 RPL35A MED12 KMT2A RPS26 PIBF1 RPL31 CILK1 RPL15 ARID2 TUBB CDC45 XYLT1 EIF2S3 ALX1 ERCC5 NSMF KIAA0556 DLX4 GRHL3 TAPT1 NBN DLL1 RPL27 EVC2 RET SMAD3 HDAC8 PALB2 PDE6D OTX2 DHCR7 MSX1 PRDM5 MASP1 STXBP1 IFT172 TCTN3 RECQL4 FKRP HES7 TGFB3 NUP188 POLA1 PGAP3 MSX2 PIGL CPLANE1 B3GALT6 AMER1 B3GLCT FZD2 FLNB POMGNT2 PROP1 GMNN RPS29 COLEC11 ARHGAP31 TXNL4A HS6ST1 MBTPS2 RREB1 FOXE1 KCNK9 IFT140 LBR WASHC5 SCN2A MKKS LHX3 TMEM216 RPS10 CHSY1 ACTB NXN NID1 COG1 NFASC TBX15 IFT57 RB1 WDR60 SMARCB1 SHH KCNJ2 FANCD2 LARGE1 DISP1 IKBKG RIPK4 DVL3 NAA10 CENPF RYR1 SOX2 PIGO SMOC1 EARS2 GP1BB ARX REV3L DLG1 RAD51 SLC26A2 HYAL1 PGAP2 PLCB4 ATN1 COL9A3 LIG4 ZIC2 ALG3 PAX3 SMC3 EPG5 MAP2K2 HYLS1 MUSK IGBP1 ACTG1 RNU4ATAC CRKL FAM20C SEC23A ECEL1 POLR1D PIGV RPS23 TBX22 RAD51C PUF60 JUP TBC1D24 DLL3 DPH1 FLII SETD5 CHRNA1 MAP3K7 CCDC22 PNKP MYOD1 KIF7 FLNA ARL6IP6 CTCF UBB DHCR24 PIGW SUMO1 GDF6 TBCE ITGA8 TGFBR1 GNRH1 SLC25A19 RPS19 AHI1 ZSWIM6 BUB1B RPL11 SNRPB SCN1B KDM6A FEZF1 SUFU KLHL41 SMS PIGY TMEM231 SOX3 B4GALT7 INPPL1 FGF20 DDX59 MAPRE2 AMMECR1 SIX5 FOXH1 CEP55 ATR PORCN ATP6V1B2 KIF14 FGFRL1 ORC6 RUNX2 FKTN NSDHL SOX11 KANSL1 TELO2 ROR2 WDR26 GMPPB SLC25A22 MYMK FRAS1 GAS1 C2CD3 PQBP1 MIR140 MCTP2 PIGN RPGRIP1L EMG1 ARVCF COL9A2 RERE MAPK1 DONSON PTPN11 IQSEC2 SLC35D1 SLC18A3 CCDC141 POLR1C TBX2 VAX1 STAMBP UBE2T SMC1A LMNA EDN1 HNRNPK STAG1 CTNND1 TMEM237 RBM10 SEPTIN9 ERCC4 DMXL2 CDH11 MEIS2 SOX10 EYA1 JMJD1C VANGL1 RPS27 RPS7 BRCA2 NELFA RXYLT1 NSUN2 TRRAP BRCA1 FGF9 CSPP1 ZEB2 PHF8 BMPER DLX5 HOXD13 SOX4 B3GAT3 SON FKBP14 NUP107 ARID1A BMP4 POLR3A EFNB1 CDKL5 TTN GJB2 CDC6 PTCH2 B4GAT1 BUB1 SATB2 USP9X INTU SEC24C NEUROD2 TMEM107 FTO NUP88 RSPO2 RIPPLY2 FANCE RPS24 SMARCC2 PGM1 GATA1 G6PC3 KAT6B STAG2 IFT80 RBM8A RFWD3 PSAT1 TGFB2 SMG9 SLC10A7 NIPBL SLC29A3 KIFBP RPL26 NPHP1 INTS1 SCARF2 PROK2 GDF3 SPEG IL17RD FANCF EXOC6B TRIP13 MESP2 B9D2 ATRX KAT6A CASK TTC37 FANCG PPP3CA FUZ ZNF469 ASXL1 FREM2 FANCI PRRX1 POMGNT1 ORC1 SLC39A13 LMX1B PTDSS1 SLC2A10 MAP2K1 CHN1 KMT2C SMARCA4 TRIM8 FOXP2 SMO RIC1 DPF2 RAPSN MAF ARHGAP29 LOXL3 NOTCH2 CHST3 RPS15A FAM149B1 PLXND1 WNT7A TBX4 EIF4A3 MID1 TAC3 KCNN3 FGFR3 COL4A1 RPL18 COL9A1 STAC3 CYP26C1 TBX6 KIAA0753 TSR2 ANKRD11 ORC4 GRIP1 TRAPPC9 ARCN1 FOXA2 BIN1 TRPV4 POMK ADA2 ARNT2 FANCC SIK1 DAG1 TGDS RPL35 GATA3 SEMA3A B3GALNT2 CDT1 EVC CD96 HP_GLOSSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSITIS PTPN22 SLC46A1 LMBRD1 SLC6A19 SLC39A4 HP_TRIANGULAR_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_MOUTH ROR2 BUB1B ERCC2 WNT5A TFAP2B COLQ LAMB2 DVL1 NXN PIGA DVL3 GTPBP2 INPP5E NCAPG2 KIF7 HP_TRISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRISMUS GBA SF3B4 PHGDH HSPG2 COL2A1 MYMK EDNRA PNKD CRLF1 TPM2 PRRT2 PSAT1 MYH8 LIFR HP_GINGIVAL_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_OVERGROWTH ABCC9 FAM20A DHCR7 LIMK1 RFC2 SC5D ABCA5 SLC17A5 STAT5B GTF2I PRKAR1A ZNHIT3 OSTM1 ELN DVL1 NXN EXTL3 GNPTAB NABP1 CLIP2 C1R EMC1 FAM20C KCNMA1 GNAQ PML SLC29A3 C1S INSR FZD2 GLB1 STAT3 RIN2 FGF3 NFIX ADAMTS3 TBCK PLG DVL3 KIF1A TBL1XR1 ROR2 LBR KCNK4 FGFR2 ADAMTS2 BCOR REST ANTXR2 SOS1 ATP6V1B2 TMCO1 TBC1D24 IRF2BP2 IDUA MMP2 KCNH1 AIMP2 ZBTB16 MYSM1 WNT5A MGAT2 MAN2B1 SH3PXD2B VPS13B TBL2 RMRP PLAGL1 CNTNAP1 NUMA1 PIGA CCBE1 RARA AGA PIGN PIGS USP9X BAZ1B KCNJ6 FIP1L1 HYMAI MMP14 IER3IP1 PRMT7 NPM1 GTF2IRD1 FAT4 GUSB COL3A1 CD96 HP_THICK_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_UPPER_LIP_VERMILION ABCC9 COL11A1 TWIST2 NOG APC BRCA1 GPC4 WDR26 NAA10 SC5D NSUN2 STRADA RPS7 TOE1 THOC6 DENND5A HP_XEROSTOMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XEROSTOMIA GSN FGFR3 PFN1 EDARADD SRSF2 CBL OPTN IRF5 LBR B2M DAO FGF10 CHMP2B ANG CAV1 C9orf72 GLT8D1 VAPB CFAP410 UNC13A TET2 DCTN1 TBK1 PON2 PON1 NOD2 TREM2 SCN9A ANXA11 PPARGC1A NEFH HNRNPA1 SOD1 CHRM3 FIG4 ERBB4 UBQLN2 TAF15 PRPH CCR6 ASXL1 SQSTM1 EPHA4 ATXN2 VCP TARDBP FUS TP63 FGFR2 GLE1 RUNX1 CHCHD10 MATR3 CCN2 PON3 CLDN10 NEK1 CCNF HLA-DRB1 HP_HIGH_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PALATE GNB1 KMT2D PIGH NEB NEK9 BLNK ARID1B GPC3 RRAS2 CLP1 UBE3B UPF3B BRIP1 DDX11 KRAS MOGS CLTC MED25 MFAP5 NSD1 FGFR3 KCNH1 PUS7 KMT2A GSC PEX1 DHPS MYH3 TPM2 GFPT1 LGI4 SEC23A AGRN AK9 MEGF10 TWNK COLQ FGFR1 HRAS RNF113A SETBP1 CHST14 GATAD2B BCOR MRAS SLX4 PEX10 NEK1 ESCO2 MAP3K7 INSR OCLN TAB2 CHRNG DVL1 COX8A BRAF RAD21 CASK PURA FLCN EXOSC9 LRP12 ATRX FANCA PEX12 DSE DDHD2 RAB23 RAB18 GEMIN4 DOCK3 ARHGEF2 CHD3 TAF1 SEC24D XRCC2 TBC1D20 OFD1 FBXL3 TOE1 HYMAI EBP WNT5A HSD17B4 FANCB SH3PXD2B FGFR2 AP4B1 PIGY SMARCD1 FANCM TRIO RAB3GAP1 COX6B1 ACTA1 LMBRD1 PPP2R5D COX14 EP300 ANKRD11 CTBP1 SIN3A CHRNB1 PEX26 NFIX ERCC3 PLAA MCM3AP PCGF2 PDHX ATP6V0A2 ERLIN2 BCR FBN1 SRY TGFBR1 CREBBP OTUD6B MN1 COL6A1 SEC23B SLC25A1 IGLL1 SOS1 TPM3 MYH2 AKT1 TBC1D24 RRM2B TRPS1 KCNK9 TNNT3 MAD2L2 MED12 GATA4 CHAMP1 VPS13B RAF1 RIN2 MYPN PEX13 TGFBR2 SLC18A3 CHRND KIAA1109 NAA10 HECW2 HUWE1 PIEZO2 ARX PTEN BRAT1 PIGN PIGT COL5A2 ABL1 RIT1 TNNI2 CDC45 IGF1R FAT4 EYA1 NALCN IFT122 PMM2 SMAD3 HDAC8 PALB2 PDE6D SDHD GMPPB PIK3CA COL13A1 KLHL41 NSDHL CHRNA1 MYO18B TUBB SC5D TCTN3 EIF2AK3 RECQL4 PPP1CB PEX16 A2ML1 TACO1 TGFB3 NUP188 RPS6KA3 TFAP2A CCDC28B CPLANE1 B3GALT6 AMER1 TUBB3 FZD2 MSTO1 LMNA TBCK HYOU1 PUS1 IFT140 AP4M1 SELENON LAGE3 BMP2 PAH COX10 MKKS TMCO1 PEX19 ACTA2 SLC12A6 SEMA5A LOX MYL1 COG1 SMAD4 COA8 PRKG1 MUSK CLCF1 TRMU KCNJ2 CNTNAP1 MYH7 FANCD2 GNPAT AEBP1 RYR1 FLNA ATP7A SMOC1 ZDHHC9 COL12A1 TLK2 REV3L NONO EFL1 RAD51 CRLF1 TET3 ATN1 HPGD PEX11B SLC17A5 ADAT3 LIG4 ZIC2 TWIST1 ALG3 MAP2K1 FLNB SMC3 MAP2K2 APC PEX5 IGBP1 CHST3 SPEG IRX5 CRKL COL6A2 AP4S1 CBS PIGO TCOF1 TAF6 RPS23 SMC1A FH PIGL RAD51C DIS3L2 CTNND2 PGM3 ERCC2 CD96 SETD5 MYL2 LZTR1 CCDC22 BMP4 POGZ BBS1 PPP2CA CHAT ALDH6A1 KDM5C SLC6A17 PIGW PHIP RET CDK10 ATP6V1E1 NOTCH3 COL11A1 RRAS KIF7 MAT2A CUL4B SNRPB SETD2 RPS19 KDM6A OSGEP SNX14 SMS SHOX GLE1 CCDC47 CFL2 MPLKIP PAFAH1B1 FBN2 FANCL CD79A AFF4 DDX59 ARL6 DPM2 ADAM22 ATR MED13L ATP6V1B2 FUT8 DBH ORC6 RUNX2 MTM1 KANSL1 SLC5A7 PEX6 TWIST2 DCHS1 POLR1D TRIP12 SCN4A HSPA9 WDR4 LTBP2 ZC4H2 GPC4 FRAS1 FAM20C CHRNE COL6A3 PLAGL1 MEGF8 SKI MIR140 CEP152 RERE MAPK1 SMCHD1 CTU2 HBA1 SDHC HNRNPH2 DST DHX30 UBE2T HERC1 ASXL3 HNRNPK SOS2 SPTBN4 STAG1 ALG14 PIGV MYH11 NUP88 RBM10 MYO9A PEX14 ERCC4 CDH11 SNAP25 DPAGT1 ZBTB24 FRMPD4 ANOS1 ELN GMNN MYCN MECP2 COA3 ENPP1 CNTN1 SIX1 BRCA2 DVL3 TBX1 PAX1 NSUN2 FOXL2 POLR1C DDR2 COL1A2 ECM1 LRP4 BRCA1 ALG2 WDR35 DPM1 EPG5 PTPN11 TARS1 SON SLC25A24 NUP107 SP7 CSNK2A1 RAB3GAP2 CPT2 EFNB1 TTN CDC6 KCNJ6 EFEMP2 FGF8 AP1S2 MYLK SATB2 ABCC6 COX20 USP9X INTU GBA SPECC1L PYCR2 SYT2 LAMB2 PEX2 PGAP2 FANCE SHANK3 SCO1 TRIP4 KLHL7 YWHAE VAMP1 G6PC3 DLG3 MYMK RFWD3 MT-TE PSAT1 TGFB2 SMG9 YARS2 IGHM SLC10A7 PET100 NIPBL GNE GTF2H5 LMOD3 LRRC8A HSPG2 SMARCA2 SCARF2 FANCF EXOC6B CNOT1 SPRED1 FIG4 GTF2E2 ZNF341 CTNNB1 RAPSN FARSB FANCG YY1 STAT3 SLC2A10 ANK1 RNASEH1 RUSC2 FREM2 PCLO FANCI APC2 ORC1 PIGA AIFM1 SLC39A13 NRAS PRMT7 BIN1 PTDSS1 DOK7 CBL HACD1 ITGA7 MT-TN FOXP2 IER3IP1 PUM1 TMEM216 PEX3 ATP6V1A KLLN FAM149B1 NEFL PLXND1 WNT7A TBX4 EIF4A3 MID1 ZMPSTE24 KCNN3 RASA2 KBTBD13 THOC2 ATAD1 ANTXR1 COG5 BMPR1A STAC3 IBA57 KIAA0753 PQBP1 COL5A1 ORC4 GRIP1 ARCN1 CD79B SIM1 WASHC5 OBSL1 SET HNRNPU FANCC AP4E1 COL1A1 PTPN14 PAK3 TGDS SIK3 SDHB ERMARD NOTCH2 VAC14 TCF3 PIK3R1 USF3 CDT1 PYROXD1 MAP3K20 KPTN PGAP3 MAMLD1 FOXE3 WDR73 ARID2 COL3A1 HBA2 HP_THIN_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_UPPER_LIP_VERMILION PPM1D NALCN RNU4ATAC CLCN4 MYO18B STAG2 CHST14 AFF4 ARID1B FTSJ1 AMMECR1 MAPK8IP3 MCPH1 ADSL CLP1 KIF11 STIL CDK5RAP2 UPF3B PGAP3 DPM2 PWAR1 CLTC CPLX1 SETBP1 QRICH1 GNE B3GLCT SMC1A RAB39B HCFC1 ARHGEF6 KMT2A PUF60 IFT43 DYRK1A CEP135 CXorf56 BPTF KNL1 LAS1L UBE3B ADNP BMP2 NPAP1 ARX DCPS ALG12 IL1RAPL1 CACNA1C ACTB CDK6 PRKDC FBN1 KAT6A TRMT10A CTNNB1 KDM5C PDGFRB GATAD2B NIPBL HDAC8 COG1 NRXN1 TAF1 TAF13 PTRH2 AGL ADGRG6 DVL1 ROR2 MFSD2A UNC80 MCTP2 KCNJ2 MBD5 CNKSR2 RPS6KA3 MID2 ATRX KDM1A NDN MAPK1 DSE EXT1 FAR1 RAI1 ASPM CEP63 ARHGEF2 MED13 WAC ATIC TSPAN7 PHC1 MECP2 OCRL EXOSC2 HERC2 WNT5A MAF MAGEL2 RHOBTB2 PMM2 NONO DVL3 TRAPPC9 SNORD115-1 RAD21 MAP11 MED12 PTCHD1 ACSL4 RPL10 ATN1 PSMD12 CDH11 SYT1 LMBRD1 MID1 PPP2R5D CCNQ WDR62 DPF2 SMC3 USP27X PPP1R15B BCL11A KIF15 PDE4D SNRPN OPHN1 PIEZO2 PYCR2 METTL5 ACTG1 CRKL POGZ MTOR SLC26A2 SEC23A KCNMA1 IRF6 CDK13 GLIS3 TCF20 ZBTB18 NCAPD3 PIGV SLC9A7 CDC42 TAF6 PCGF2 ALG13 AGTR2 BCR PQBP1 PACS2 IQSEC2 SETD5 TRPS1 CENPJ PAK3 ANKRD11 OTUD6B TMEM94 MKRN3 TRRAP NFIA TBL1XR1 TBC1D24 ZNF41 EBF3 MPC1 OFD1 KIF14 CEP152 FRMPD4 PACS1 ZNF711 SASS6 SNORD116-1 SON DLG3 SLC25A24 SMARCE1 CNTNAP2 SYP RNF135 CTCF CSNK2A1 GDI1 DMD POLR3A MAN1B1 TUBGCP2 NAA10 PWRN1 PBX1 HUWE1 CDK10 COPB2 PIGN WDR19 NOG USP9X SPECC1L ANKLE2 IGF1R SMAD4 BCL11B PIGG CIT PITX2 SMARCC2 ZNF81 AP3B1 HP_VELOPHARYNGEAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VELOPHARYNGEAL_INSUFFICIENCY SF3B4 ESS2 MSX1 NECTIN1 TP63 NEK1 RLIM RAI1 IRF6 DLX4 DGCR8 GRHL3 UBB DGCR2 BMP4 CDH1 DLG1 TUBB6 THOC6 DGCR6 TBX1 ARHGAP29 HP_FURROWED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FURROWED_TONGUE AKT1 KDM5C TCTN2 PIK3CA GJB2 RPGRIP1 SDHC MKS1 KRT6A CC2D2A KLLN TMEM67 TMEM231 SOX5 GJB6 RAB3GAP1 INSR ABCC9 IL36RN RPGRIP1L SDHB TMEM107 PTEN RAB3GAP2 CEP290 CEP55 B9D2 SEC23B TMEM216 RERE WDPCP ECEL1 MED25 B9D1 USF3 PKP1 SLC39A4 CSPP1 SDHD HP_ABNORMALITY_OF_TASTE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TASTE_SENSATION WNK1 KIF1A SLC39A4 ELP1 RETREG1 SCN9A HP_GINGIVAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_BLEEDING ITGA2B FGA FGG MYD88 LMAN1 CAT ZBTB16 SBDS F7 WIPF1 GP1BA F10 C1S F2 FCGR2C STAT5B PRKAR1A TET2 KIF23 WAS FGB GP1BB F8 SERPINF2 TERT TERC NUMA1 NABP1 C1R RARA IFNG PML LYST GP9 PRF1 SCARB2 STAT3 ITGB3 FIP1L1 BLOC1S3 TBL1XR1 GBA MPL F13A1 NPM1 ADAMTS2 ELMO2 BCOR MCFD2 F5 F13B HPS1 IRF2BP2 JAK2 HP_GINGIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVITIS STAT3 CYBB CYBC1 TCIRG1 CYBA NCF1 LYST KRT6A CAT ELANE SRP54 CTSC NCF2 PLG CD40LG OCRL ALMS1 SAMD9 SLC6A19 FERMT1 ITGB2 B4GALT7 GFI1 COL3A1 NCF4 HP_THIN_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_VERMILION_BORDER PPM1D IGF1R NALCN RNU4ATAC PDGFRB GDF1 FMR1 PPP1CB CLCN4 ACSL4 MYO18B AMMECR1 STAG2 CHST14 NF1 AFF4 ARID1B MYMK FTSJ1 MAPK8IP3 MCPH1 ADSL LIG4 CLP1 KIF11 UBE3B STIL CDK5RAP2 UPF3B MED12 SRCAP PGAP3 DPM2 PWAR1 CLTC PYCR1 CPLX1 SETBP1 QRICH1 NIPBL GNE DYNC2LI1 B3GLCT SMC1A RAB39B HCFC1 GJA1 ARHGEF6 KMT2A PUF60 SHOC2 IFT43 DYRK1A CEP135 CXorf56 TXNL4A SMARCA2 RUNX2 BPTF KNL1 LAS1L SEC23A DDRGK1 EVC UBE2A ADNP HMGA2 BMP2 TWIST2 NPAP1 ARX DCPS ALG12 GATA4 IL1RAPL1 FIG4 SMC3 CACNA1C ACTB CDK6 PRKDC FBN1 KAT6A TRMT10A CTNNB1 KDM5C TBCE GATAD2B HDAC8 CKAP2L COG1 NRXN1 TAF1 CTCF TAF13 PTRH2 AGL ADGRG6 DVL1 COL3A1 FLT4 ROR2 PPP2R3C MFSD2A RAD21 UNC80 MCTP2 KCNJ2 PIGN MBD5 CNKSR2 RPS6KA3 MID2 ATRX KDM1A JAG1 NDN MAPK1 PRMT7 DSE EXT1 SPECC1L FAR1 RAI1 ASPM CEP63 ARHGEF2 MED13 EVC2 WAC ATIC NDP NKX2-5 SLC45A1 TSPAN7 HS6ST2 ZFPM2 PHC1 MECP2 LEMD3 OCRL BMP1 EXOSC2 SMOC1 HERC2 GATA6 WNT5A MAF MAGEL2 RHOBTB2 PMM2 NONO ACTG1 DVL3 TRAPPC9 SNORD115-1 NKX2-6 MAP11 PTCHD1 RPL10 NOTCH2 ATN1 PSMD12 TBX1 CDH11 SC5D METTL23 SYT1 LMBRD1 MID1 PPP2R5D LMX1B CCNQ XRCC4 WDR62 DPF2 USP27X PPP1R15B BCL11A KCNE5 KIF15 SIN3A PDE4D SNRPN LMNA OPHN1 PIEZO2 PYCR2 METTL5 CRKL POGZ MTOR SLC26A2 KCNMA1 ZBTB16 IRF6 CDK13 GLIS3 SMAD4 TCF20 ZBTB18 NCAPD3 PIGV SLC9A7 CDC42 TAF6 TTI2 ERCC6 PCGF2 ALG13 AGTR2 BCR PQBP1 PACS2 GLI1 IQSEC2 STXBP1 SETD5 TRPS1 CENPJ PAK3 ANKRD11 OTUD6B TMEM94 MKRN3 TRRAP ALG1 NFIA CITED2 TBL1XR1 TBC1D24 ZNF41 EBF3 SCYL2 MPC1 OFD1 KIF14 CEP152 FRMPD4 PACS1 GATA5 ZNF711 SASS6 SNORD116-1 HNRNPU SON DLG3 SLC25A24 NBAS MGAT2 SMARCE1 CNTNAP2 WDR19 SYP RNF135 CSNK2A1 TALDO1 GDI1 DMD POLR3A PHIP MAN1B1 GJA5 TUBGCP2 NAA10 VAC14 PWRN1 XYLT2 PBX1 HUWE1 CDK10 SATB2 COPB2 BRAT1 NOG USP9X HDAC4 ANKLE2 IARS2 EIF2AK3 KIF7 BCL11B ZMPSTE24 KDM5B PIGG CIT THOC6 PITX2 SMARCC2 ZNF81 AP3B1 CD96 HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES TWIST1 PDGFRB SLC12A6 MPLKIP PDX1 KCNAB2 WDR35 AFF4 PTEN FOXG1 FGFR3 FGFR2 KCNJ11 MAP3K7 FGFR1 CTSK COL1A2 KRAS ATR ATRX ADSL STAT3 BPNT2 MMP14 IFT122 GJA1 SMO ALDH18A1 ORC6 BANF1 RUNX2 PPIB PEX1 REN FKBP10 COL11A2 KANSL1 ATP7A SEC23A PIEZO2 PEX6 FAM111A DCHS1 COL1A1 SPECC1L CYP27B1 HRAS RNF113A SETBP1 SLC35A2 MMP2 ROR2 USP7 CHST14 CEP120 IFT43 NKX2-1 ESCO2 LRP2 PEX12 PEX10 MAN2B1 SUFU DVL1 INPPL1 FAM20C PAX8 PLAGL1 NSMCE3 MEGF8 SKI MIR140 TSHB ARVCF SLC39A8 KLHL7 DMP1 GCK MASP1 DSE AGTR1 DONSON RAB23 TNFSF11 VARS1 SEC24D UBR1 ABCC8 TENT5A KAT6A CLCN7 HYMAI SOX9 IGF2 CRTAP LRP5 BMP1 EBP WNT5A MAF HSD17B4 LMNA HNRNPK UFD1 SLC26A4 COL10A1 SH3PXD2B RBM10 TSHR EFEMP2 PEX14 TBCE SMARCD1 PEX19 NOTCH3 POU1F1 LHX4 ZMPSTE24 PPP2R5D CCNQ GCDH DPF2 EP300 FOXE1 EXTL3 ERCC2 GORAB COMT POR GPX4 MTOR SLC5A5 GMNN ZFP57 MYCN JMJD1C GLIS3 ERF ERCC3 VDR PEX5 ATP6V0A2 FLNA ENPP1 SMAD6 DUOX2 HIRA TGFBR2 AKT1 STXBP1 RNF125 PTDSS1 NSUN2 CREBBP HPGD MSX2 PYCR1 ALX4 CDH11 HOXD13 TARS1 ETFDH PEX2 SIX2 SON MED12 SLC25A24 PLK4 PPP2R1A WDR19 MVK FAT4 KCNQ1OT1 SP7 TALDO1 DDRGK1 PEX13 POLR3A ALPL CDC45 EFNB1 NSD1 CDC6 TBX1 PHEX NAA10 CCBE1 POLA1 CDKN1C HUWE1 ARX MYH3 LEMD3 TRAIP AHDC1 INTU NKX2-5 SEC24C IFITM5 KCNQ1 CYP26B1 BMP4 TAPT1 KDM5B ALG8 SMAD3 PEX16 ZIC1 P4HB AMER1 RSPRY1 CTSD RTTN SC5D CEP152 RECQL4 PPP1CB GPC6 NUP188 ASPA SCN9A SMG9 PLOD2 HERC1 LHX1 RNU4ATAC KIF7 COG4 B3GLCT GTF2H5 CHD4 PRDM16 ERCC1 ACE CYP2R1 HSPG2 TBCK FBLN5 NEB COLEC11 SCARF2 HESX1 RREB1 IFT140 PEX11B HNF1B PEX26 ADAMTS2 LHX3 TMCO1 TCF12 FIG4 GTF2E2 GLI3 PPP3CA RERE YY1 ASXL1 ACTA1 P3H1 INS APC2 ORC1 PIGA AIFM1 TCIRG1 ERCC5 GNPAT AGT SLC2A10 IL11RA BCL11B PCNT SNX10 ETFA NPHP3 TGFBR1 TLK2 SHPK DUOXA2 GP1BB ACTG1 PSAT1 DVL3 CENPE NOTCH2 ATP6V1A PROP1 ETFB LIG4 CDK8 ERCC6 TPO KLHL41 LMX1B BMPER IFT52 PAM16 SMC3 PIGT FREM1 GNPTAB ATRIP IRX5 ANTXR1 RETREG1 LMOD3 PTCH1 COLEC10 DPH1 KLHL40 WNK1 CENPJ NFIX ADAMTS3 THRA ANKRD11 ORC4 ALG1 TBC1D24 ADAMTSL1 ALG9 WASHC5 COL11A1 CCDC22 IYD TG HNRNPU KIF1A NLRP3 FBN1 CTCF RBBP8 ERMARD PEX3 IL6ST GABRD VAC14 ATP6V1E1 CWC27 NDE1 CDT1 ZSWIM6 TRHR KPTN SETD2 RPS19 FLNB SLC34A3 ACTB RPS6KA3 ARID2 HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE PEX14 TBCE PEX19 ATP6V1A PEX11B ETFB ATP6V0A2 LIG4 FGFR3 ZIC1 PEX16 TWIST1 PPP2R5D FGFR2 SMC3 EP300 ASPA CTSK SMG9 ANTXR1 ATR MTOR RNU4ATAC AMER1 KIF7 COL1A1 SEC23A COG4 PEX6 B3GLCT MYCN GLIS3 BANF1 RUNX2 PEX1 COL11A2 PEX5 FLNA PEX13 PIEZO2 PEX10 PEX26 NSUN2 CREBBP ANKRD11 ADAMTS2 DCHS1 FAM111A ATP7A ALG9 HRAS ORC1 SETBP1 COL11A1 MMP2 ROR2 ETFDH SIX2 LRP2 PEX12 P3H1 SLC25A24 SUFU NLRP3 DVL1 PLAGL1 TALDO1 NSMCE3 MIR140 POR PEX3 TSHB MED12 ARX MASP1 GLI3 ATP6V1E1 ATRX VARS1 PEX2 COL1A2 INTU CDC45 UBR1 HYMAI ETFA FAT4 SOX9 SKI CRTAP EBP WNT5A DVL3 POLR3A RPS6KA3 SH3PXD2B HP_SMALL_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_ANTERIOR_FONTANELLE MYCN PLAGL1 ATR VARS1 RNU4ATAC HYMAI ORC1 HP_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCEPHALUS RSPH1 FGFR3 CTBP1 GLI3 SPAG1 TMEM231 TCIRG1 TSC2 POMT1 ARHGAP31 FANCL B4GAT1 FGFR2 DNAH1 LARGE1 OSTM1 CTSK OGDH BRIP1 CEP55 GMPPB PORCN TMEM138 GNAQ DNAAF1 SLC13A5 FGFRL1 MTRR SHOC2 DNAH9 HCCS RNASEH2A IFT43 CC2D2A BRAF FKTN RSPH4A PTCH1 ERCC8 PLG GAS8 CRB2 B9D1 KIF1A EML1 HDAC6 CCDC65 AKT1 VSX1 ERCC3 DENND5A HRAS GPSM2 RPGRIP1 INPP5E PIEZO2 DOCK6 TCTN2 SLX4 NF1 MAN2B1 PTCH2 PIK3CA POMGNT1 FANCB KMT2D FAM20C SUFU SKI CEP290 AKT3 RPGRIP1L ARVCF DLL4 ARL3 MMACHC FANCA KIF7 LAMB1 FGFR1 ARSB COL4A1 TNFSF11 RAD51 TCTN1 RBPJ SEC24D XRCC2 ROGDI TMEM67 DNAAF6 B3GLCT CCDC103 CLCN7 SOX9 GBA DNAAF4 NRAS UBE2T HERC1 EBP PIK3R2 AHI1 ARL13B TMEM216 ERCC4 CEP104 UFD1 SLC2A1 LETM1 TP53 POMGNT2 NF2 KIAA0586 TMEM237 CCND2 COL18A1 FANCM FOXJ1 ERCC6 SMO GPC4 TSC1 ZNHIT3 DHCR24 SUMF1 OFD1 DNAL1 NSD2 ALG13 ARMC9 BAP1 B3GALNT2 GALC COMT POMT2 WDPCP POMK CRPPA VANGL1 RSPH9 JMJD1C ERF CEP120 TAF2 L1CAM FLNA NOTCH1 PPP2R5D HIRA CEP41 BRCA2 TGFBR2 ZBTB24 RNF125 RXYLT1 CPLX1 NSUN2 ERCC2 IDS SMARCB1 LMBR1 BRCA1 PYCR1 CSPP1 DNAI1 IDUA DNAJB13 MT-CYB WNT3 MKS1 FLVCR2 B3GAT3 MAD2L2 MED12 SLC25A24 PPP2R1A PRDX1 POLR3A KIAA1109 SOX2 TBX1 DAG1 USP7 AP1S2 LRRC6 DNAAF5 CCNO PIBF1 CILK1 PTEN SEC24C LRRC56 CPLANE1 TMEM107 FTO DNAAF3 PALB2 GPC3 MTM1 FKRP P4HB CCL2 RSPO2 FANCE PPP1CB MCIDAS IFT172 PEX19 CCDC88C RECQL4 RFWD3 ZBTB20 CSF1R B4GALT1 CTNNB1 COX7B CFAP221 AMER1 SAMD9 ZIC3 TUBB3 SLC29A3 RPGR STK36 NPHP1 TNFRSF11A MFN2 MBTPS2 RREB1 NME8 FRAS1 FANCF WASHC5 CFAP298 HYLS1 CFAP300 FIG4 SPEF2 FANCG ZMYND10 KIAA0556 TBX15 HELLS KRAS WDR81 CCDC39 ARMC4 FANCI POR FANCD2 DNAI2 NEK10 PTDSS1 MAP2K1 DNMT3B PDGFB VHL CENPF SNX10 TRAF7 NDUFB11 SMOC1 GP1BB ZNF423 TYROBP MAF VPS33A MC1R TREM2 NOTCH2 ERCC5 CHST3 TERT SLC17A5 LIG4 GAS2L2 ZIC2 CEP83 CCDC151 MAP2K2 MPDZ MUSK DHCR7 ESCO2 GFAP B9D2 FAM111A SF3B4 CDCA7 PIGV CYP26C1 DNAH5 RAD51C TTC12 VANGL2 GLI2 HBA2 DPH1 TRPV4 CCDC22 CCDC40 HNRNPU FANCC EOGT FBN1 SIK3 HBA1 TTC25 DNAAF2 PRKAR1A DRC1 VAC14 CFAP43 RSPH3 TBXT HYDIN TGFBR1 FUZ SMARCE1 CCDC114 BUB1B KDM6A CLIC2 GUSB DNAH11 HP_ABNORMALITY_OF_SKULL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKULL_SIZE VPS11 CTBP1 SLC1A4 HEPACAM SLC12A6 THOC2 PHF6 KCNJ1 PIGH TCIRG1 MCPH1 MICOS13 NHEJ1 CDK6 INSR FRMD4A KCNAB2 FGFR3 XPA RAB3GAP1 RNASEH2C ERCC3 CLP1 UBE3B STIL PLPBP UPF3B SIX3 NDUFV2 CHMP1A NSD1 PUS7 SCN8A CACNA1G ARHGEF6 HCCS TERT WDR35 CC2D2A WWOX BGN NR5A1 RAD50 PTCH1 NDUFS3 AUH NUP133 EMG1 FAM111A ARX HNMT OGT ZC3H14 CEP57 XRCC4 CAMK2B ESS2 BMP15 PIEZO2 BCOR KIT IFT43 ESCO2 SLX4 MECP2 DHFR OCLN POMGNT1 SUFU CHRNG ALDH18A1 KMT2D ACADVL TREX1 AFF2 SERAC1 BUB3 DDX3X NALCN SLC26A2 ATRX AKT3 WDR60 TRIP11 H1-4 PLP1 SYN1 FANCI PEX7 BRF1 FBXO11 FAR1 RAB18 PHGDH WDR45B SEC24D TBC1D20 ITCH COL2A1 FBXL3 TOE1 DICER1 PHC1 SOX9 FGF8 SALL4 NEXMIF MICU1 EEF1A2 CLPB UFD1 LETM1 NUP107 NDUFAF3 TDGF1 TMEM126B HACE1 RAC1 SH2B1 RARS1 FANCE KIF2A SLC9A6 PPP2R5D DNMT3A EP300 CLTC LFNG ALG13 KIF14 EXTL3 DEAF1 ITPA SIN3A AP1S2 WDPCP HCN1 PLK4 TBC1D7 ACTG2 PIGP CRPPA NFIX NCAPD3 TSEN54 EFTUD2 FRRS1L DCHS1 UBA5 ITGA3 NDUFV1 CEP135 PDHX ATP6V0A2 NANS ADAR BCR MRPS34 RBM28 IQSEC2 IFIH1 CRIPT PGAP1 MLC1 STT3A CREBBP ERCC2 OTUD6B DIAPH1 PLG UGP2 DNAJC21 PARS2 ACADM IQSEC1 RAB39B EZH2 AKT1 VPS53 TMCO1 NSD2 TRAPPC12 FANCG ASPA HMGCL MAD2L2 MED12 ARSL ERCC4 FKTN CHAMP1 RTEL1 VPS13B NODAL POMT1 GJA8 HDAC6 TANGO2 DYNC2H1 KCNA1 PRDX1 PEX13 SMARCE1 DGCR2 KIAA1109 NAA10 NDUFB3 USP7 PPP2R1A BDNF HUWE1 PTEN RFWD3 BRAT1 PIGN PIGT RPL10 BLM TRAIP PSMC3IP TUBB CDC45 XYLT1 TCF4 HIVEP2 TNFRSF11A CYB5R3 ERCC5 NUS1 TAPT1 DLL1 QARS1 L2HGDH CWF19L1 CDC6 BRCA2 PALB2 NDUFS7 PAH SDHD ABCC9 DNM1 SOX4 ASNS NSDHL EIF2B3 MYO18B RTTN SC5D STXBP1 CHD1 STRADA EIF2AK3 FKRP MAPK8IP3 LTC4S SMARCD1 HES7 NUP188 POLA1 RPS6KA3 CDK5RAP2 NAT8L CCDC28B MT-ND3 ZNF335 QRICH1 AMER1 ISCA1 GCDH SPATA5 TUBB3 PRDM16 MRPS22 FZD2 DYM TBCK GMNN MYF6 ARHGAP31 HNRNPU MBTPS2 COG4 RREB1 IFT140 PEX11B AP4M1 LRP5 STT3B LBR TUBGCP4 COG6 SCN2A RFT1 TMEM216 ALG12 ACTB GLI3 USP18 HTRA2 PEX19 NDUFS1 PEX1 TRMT10A POMK NXN IGF1 DONSON ANTXR2 HELLS MAN2B1 PPT1 KIF5A SMARCB1 SP110 VPS37A NUP37 SHH CNTNAP1 CNKSR2 MMACHC TMEM165 DISP1 GNPAT LRP2 ADAT3 MAB21L2 PEX2 ASPM COG2 CYFIP2 EIF2B5 PIK3CA CENPF SAMD9L TRAPPC2L C12orf4 ZDHHC9 TBX4 UBR1 GP1BB SOST RHOBTB2 ERF EPRS1 MIPEP MVK ERCC1 MAP11 ENTPD1 RAD51 GLYCTK PTCHD1 ACSL4 CERT1 TET3 PGAP2 SLC6A8 CEP152 PCNT LIG4 ERCC6 INPP5E ALG3 CENPJ EXT2 SMC3 SLC2A1 SCN3A EPG5 HRAS KYNU PIK3R2 MAP2K2 FREM1 FMN2 APC BCL11A BRAF CRKL CACNA1E FMR1 FAM20C AP4S1 CDK13 DISC1 PIGO SNAP29 RPS23 DKC1 RLIM KIF1C PIGL RAD51C PUS3 ACSF3 NDUFS4 PAK3 TNFRSF11B GLI2 L1CAM CDC42 PITX1 TBX1 TBL1XR1 POLE CD96 CNTNAP2 GMPPB DPH1 MPC1 OFD1 SETD5 CCDC22 KCNA4 BMP4 KIF11 POGZ TINF2 WNT5A MGAT2 PPP2CA ASXL2 KDM5C KDSR DHCR24 DHX37 PIGW DMD SLC35A3 TBC1D24 FOXRED1 TRAPPC4 MTFMT CDK10 COPB2 NDUFB9 RNASEH2A UPB1 PSAP SLC25A19 TMX2 KIF7 ANKRD11 CUL4B NDUFB11 ANKLE2 BUB1B RAI1 MAB21L1 RNASET2 IHH TBCE GTF2E2 KDM6A B4GALT7 ACAN OSGEP NCAPD2 NUBPL SNX14 PIGY LRP4 LIMK1 EIF2B4 NARS2 KIFBP AFF4 FSHR MAPRE2 CCNK SLC6A9 ARL6 DNM2 SPTAN1 ELN NADK2 DPM2 CEP55 ATR GNAQ KMT2B FGFRL1 FUT8 DPYD NRAS ORC6 WDR4 SYNJ1 ADD3 CDKL5 ALG11 CHRNA7 ZNF592 TRAK1 XPC KANSL1 KNL1 ERCC8 AP4E1 TBX15 SHOC2 ROR2 HMGA2 NLRP3 IGF2 IL1RAPL1 RARS2 GABRA2 KMT2A GJA1 MTOR TBCD MYMK ZC4H2 CTCF TOP3A UFC1 NDUFB10 FRAS1 CDKN1C SOX2 NTNG2 SKI AGGF1 RPGRIP1L MBOAT7 RERE MAPK1 MASP1 B9D1 EXT1 CTU2 AGTR1 MYH8 INPPL1 TRAPPC6B HNRNPH2 XPR1 FIBP TSPAN7 KAT6A C2CD3 STAMBP LEMD3 DPP6 ASXL3 ZBTB42 TECPR2 NAGS PIGV PEX6 CACNA1A CRADD PEX14 GPT2 DMXL2 INPP5K TUBA1A GTPBP2 SGPL1 MOCS2 B4GALT1 BICD2 ZNHIT3 GABRB2 ARNT2 RAB3GAP2 NECAP1 ALG1 GNAS PRSS12 MGME1 AP4B1 CHKB ZBTB24 NELFA RXYLT1 SLC39A14 GJB4 NSUN2 SLC12A5 DNM1L GJB3 TRRAP RAB11B RSRC1 ST3GAL3 BRCA1 RYR1 EMC1 PYCR1 CSPP1 DPM1 ZNF469 ZEB2 IDUA TCTN2 SLC35A1 CNNM2 PTS KCNA2 TARS1 ZNF711 SASS6 FLVCR2 ETFDH SYNGAP1 SLC25A24 AHCY FAT4 COX15 TUBGCP6 GATA6 NDE1 GDI1 RBPJ EFNB1 BNC1 EFEMP2 BUB1 DAG1 MYH3 HDAC4 DOLK IARS1 PYCR2 ARFGEF2 DOCK6 SON SATB2 MFSD2A MTM1 MYSM1 ACO2 IGF1R RSPRY1 ATP6V1A G6PC3 KAT6B DHTKD1 IFT80 LSS ACTL6B FTSJ1 IFT74 CSF1R LINS1 COX7B SETD2 COG8 CENPE HSPG2 GNAO1 CXorf56 AUTS2 TUFM ZNF148 PEX10 UBE2A SEMA3E FANCF NTRK2 PTHLH CHD7 MESP2 SPRED1 ZIC2 CTNNB1 MYORG GLS SUCLA2 MCM4 HDAC8 NIPBL ASXL1 DCPS FGFR1 PTRH2 ANK1 RUSC2 WDR81 GRIN2A PIGC ABCC8 GABBR2 APC2 FGFR2 PIGA FBLN5 TPRKB MCM5 MORC2 TP53 PMPCB GAD1 PTDSS1 AMPD2 SNX10 NIN TRIM8 POMT2 ETFA PNPO SMO LARP7 IER3IP1 THOC6 RIC1 QDPR DPF2 SAMHD1 NOTCH2 AIMP1 MBD5 CCDC88A KLLN LMX1B PSPH WDR62 USP27X PPP1R15B DHCR7 OPHN1 GFAP B9D2 ZBTB16 IGBP1 RNF168 PTF1A PCDH12 BMPR1A SPIDR EHMT1 IBA57 ACER3 PQBP1 FOXG1 HEXB GRIA4 THRA VIPAS39 KCNJ8 ORC4 GRIP1 KDM1A TRAPPC9 WDR73 EBF3 MPDU1 PACS1 TP53RK ERCC6L2 GOT2 KRAS SET NDUFAF1 PPP3CA FBXL4 MSX2 TWIST1 TRIO METTL23 ERMARD RELN VAC14 USF3 NOP10 PUS1 SLC35A2 B3GALNT2 NBN CWC27 PEX3 CDT1 PSAT1 ARF1 USP9X KPTN CIT EED JAM2 AP3B1 HBA2 POLR1A CAMTA1 CLCN4 HAAO LMAN2L SLC13A5 ARID1B GPC3 OSTM1 BRIP1 DDX11 ADSL SLC1A2 MED25 MTRR TUBA8 REN NCAPG2 ATP7A RAF1 DGCR8 MTHFS PAFAH1B1 SDHB TAF13 DYNC1I2 EGF RNF113A TFAP2A KCNH1 PIGQ RPGRIP1 CEP120 DLD EDC3 CKAP2L GINS1 PEX12 CACNA1B DVL1 PAX3 AGA SEPSECS RAD21 CEP290 CASK FLCN EXOSC9 SLC25A20 FANCA KLHL7 DGCR6 LAMB1 TRAPPC11 NDUFS6 ARSB CHUK VARS1 GEMIN4 NDUFA11 ARHGEF2 CHD3 TAF1 XRCC2 TMEM67 MPLKIP MED23 NTNG1 CDON PDGFRB ALKBH8 SSR4 BCAP31 ZSWIM6 SUZ12 HSD17B4 KCNB1 PMM2 GTF2IRD1 TUBB2B NDUFS8 FANCB LIAS WT1 GPKOW MIR17HG KCTD7 FANCM TUBB4A SELENOI WDFY3 GPC4 MACF1 RNF13 GRIN2B TONSL SUMF1 DGUOK ANKH CLIP2 COMT POR PEX5 SIL1 CLCN7 PLAA POLR3H MAFB NDUFS2 TAF2 PCGF2 KDM5B HIRA RNF125 CPLX1 TMEM94 MAN1B1 SEC23B WDR34 ZNF41 GNAI3 RNPC3 MKS1 SIX6 DDB2 GATA4 SYP EIF2B1 SLC9A7 ELOVL4 CLPP FGF12 ARID2 SLC35C1 CRBN HMGB3 EIF2S3 PDHA1 SOS1 DLAT ITGB6 POLR3A PEX16 HSPD1 TRIT1 RNU4ATAC KMT2E NF1 NGLY1 PPP1CB SARS1 POLG SNAI2 COASY PGAP3 HHAT TDP2 B3GLCT SALL1 HCFC1 KCNT1 SLC18A2 PUF60 POMGNT2 NHP2 ATPAF2 SCN1A SLC45A1 SBF1 LAGE3 NACC1 SLC25A1 PRKDC MACROH2A1 PDGFB ALG9 FANCC RNASEH2B SEMA5A COG1 NFASC UBE3A IKBKG KCNJ11 TAT MED17 KCNJ2 FANCD2 LARGE1 SPR BIN1 BRWD3 DVL3 CEP63 BAZ1B TLK2 RBBP8 UBTF NONO ACTG1 GRIN2D EFL1 TNIK PLCB4 RIT1 ZIC1 MPDZ KIF15 ATRIP SLC30A10 ACADSB ZBTB20 SEC23A NDUFA6 IFT81 SF3B4 CDCA7 TAF6 SMC1A AAAS FH GBA DIS3L2 TSEN15 SPART PRKD1 CTNND2 NDUFA1 NKX3-2 DLL3 POP1 POC1A FLII JAM3 FRMPD4 C12orf57 PNKP NDST1 BBS1 ALDH6A1 SERPINH1 TRIM37 FBN1 GABRD ADK SLC20A2 SMARCA4 SLC25A22 ATP6V1E1 GABRA5 DPAGT1 PARN BPTF TXN2 NFIB SNRPB MCOLN1 AARS1 RPS19 SCN1B ZNF81 DSTYK PHACTR1 SLC16A2 GLE1 NKX2-1 CCDC47 GJA5 FANCL DDX59 MT-ND2 COG7 FOXH1 STAG1 PORCN BMP2 DYRK1A UFM1 PCNA SOX11 ATP5F1A TRIP13 KIF1A TELO2 EML1 WDR26 DNA2 DENND5A SHANK3 CLIP1 SMARCA2 TMTC3 TSEN2 FLI1 LIPT2 TIMMDC1 NDUFAF8 ANK3 GAS1 TMEM70 MTHFR LDHD UNC80 MCTP2 AP3D1 LARS1 ARVCF FBXO31 GFM2 MID2 PRUNE1 TGIF1 HBA1 TNFSF11 SDHC SLC35D1 VPS33B GALC NDUFAF4 DHX30 UBE2T HERC1 COQ9 EDN1 TBC1D23 CCND2 RFC2 SDHAF1 GABRG2 MEIS2 FOXP1 SPINT2 GRIA3 MSMO1 GORAB SZT2 MYCN JMJD1C ST3GAL5 TCF20 ZBTB18 TTI2 AP3B2 YWHAG IDS NFIA KIF22 ACD CDH11 CARS2 ZBTB11 SIX2 MTMR14 NDUFAF2 MFF ARID1A CSNK2A1 TCTN3 CPT2 PTCH2 TUSC3 B4GAT1 KCNJ6 TRPS1 ALDH3A2 PIGS TSEN34 DHDDS RUNX2 GMPPA ALX4 SEC24C NEUROD2 PDSS1 TMEM107 FTO PRMT7 RB1 EOMES RIPPLY2 NDUFAF5 TRMT1 CTSD SMARCC2 STAG2 CTNNA2 ELAC2 SMG9 YARS2 VPS13D PLEKHG2 GTF2H5 CHD4 ACE TUBG1 ADNP PEX26 GRIN1 CNOT1 CDK5 P4HTM VARS2 RIPK4 FAM149B1 FIG4 AGTPBP1 LINGO1 AIMP2 FARSB CHD8 FREM2 KIF5C PCLO FARS2 CYB5A NEK9 UGDH ORC1 PAK1 AGT NCAPH YME1L1 SLC2A10 MAP2K1 CHN1 EXOSC3 CC2D1A DNMT3B NSMCE2 KMT2C MT-ND1 NDP EIF2B2 MOCS1 SHPK EZR SHROOM4 KATNB1 ETFB SDHA GRIK2 GTF2I LAS1L DEGS1 NUP214 METTL5 COG5 COL4A1 D2HGDH STAC3 CYP26C1 SLC29A3 TBX6 ARV1 TMEM260 TCF12 AGTR2 HOXD13 PAX6 BRPF1 ARCN1 ADAMTSL1 SCYL2 CAMK2G SIM1 WASHC5 OBSL1 ABCA2 DLG3 GFM1 SIK1 WASHC4 TBL2 RNF135 AHSG TUBGCP2 MITF DYNC1H1 TMEM231 TECR SMAD4 GUSB HP_PARIETAL_BOSSING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_BOSSING PTPN11 PTCH2 PTCH1 POLR3A FGFR3 SUFU KRAS RUNX2 HP_TRIGONOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIGONOCEPHALY PTCH1 USP7 SRCAP EFTUD2 IL11RA PPP3CA FGFR1 FREM1 ASXL1 DPH1 MYSM1 FLI1 PDHX ZIC2 C2CD3 IFT140 DPF2 SLC6A9 NUP188 MEGF8 ADNP ARHGEF9 DPM2 FLCN FGFR2 RB1 MSX2 ACTG1 ACTB KLHL7 CD96 HUWE1 GLI3 CHD4 HP_BRACHYTURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYTURRICEPHALY FAM20C SYT1 SP7 FGFR2 PEX1 MSX2 FHL1 FGFR1 RECQL4 SKI HP_ABNORMALITY_OF_THE_PARANASAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARANASAL_SINUSES CCDC39 DNAAF2 NOTCH2 RSPH1 DOCK8 CYBA SPAG1 DRC1 TAP1 FOXJ1 MGP MCIDAS BLNK PSMB9 WIPF1 RSPH4A RPGR CD79A GAS2L2 IRF8 TNFRSF13C NCF2 CD19 DNAH1 MAP3K7 CCDC151 WAS ALX3 DNAL1 CTLA4 TTC25 UNC119 IGHM CD79B CFAP221 ZMYND10 AMER1 DNAAF1 RNF168 FUCA1 RSPH9 ATM STK36 CFI DNAH9 DNAAF5 RUNX2 FMR1 BTK IGSF3 OFD1 LRBA DNAH5 FLNA DNMT3B HYDIN FCGR3A NME8 GAS8 COL11A1 TTC12 CCDC40 PTPN22 NCF4 NEK10 PGM3 IL17RA DNAI2 CCDC65 CFAP298 CFAP300 IGLL1 LRRC6 TRIM37 ATRX PRTN3 TNFRSF13B ICOS TAP2 DNAI1 SH3KBP1 CYBB CYBC1 SFRP4 DNAJB13 RFXAP SPEF2 CR2 SIX2 PRKAR1A CTSK DNAAF4 MAN2B1 PDE4D IL21R ARMC4 AGA DNAAF3 RFXANK KCNJ2 CXCR4 IKBKB ACP5 NFKB2 TCF3 PSMB4 PIK3R1 CIITA RSPH3 CCNO BLM NCF1 TAPBP NBN DNAAF6 CCDC114 ADA CCDC103 ALX1 LRRC56 PNP HLA-DPB1 HLA-DPA1 LRRC8A RFX5 USB1 IL2RG DNAH11 HP_BRACHYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYCEPHALY SMS TWIST1 PIGY CCDC47 TUBB KCNAB2 FBN2 CHST14 RECQL4 FGFR2 ADSL LIG4 TGFB3 UBE3B UPF3B CTSK MSX2 PIGL SETBP1 MED13L NIPBL CD81 RAI1 SMC1A TCF12 PRDM16 FGFR3 MMP14 GJA1 MED12 CD19 AUTS2 COL11A1 ZSWIM6 SRD5A3 ADNP LRP5 TNFRSF13B WASHC5 POLR1D TMCO1 RAB3GAP2 SMC3 ATRX ACOX1 TNFRSF13C ALDH18A1 ALG9 MMP2 TDP2 HSPA9 SLC12A6 HDAC8 RERE NRXN1 ESCO2 UBE3A PTRH2 MECP2 MAN2B1 PTCH2 FAM20C PCLO SUFU MEGF8 AGA MIR140 RAD21 UNC80 POR NALCN KDM1A HCFC1 CTU2 IQSEC2 SKI SPECC1L RAB23 IL11RA WAC ATIC B3GLCT TBX2 ZDHHC9 ALX4 MAF TECPR2 PEX1 TRAPPC9 PNPLA6 PIGV FGFR1 RNF216 ICOS CHST3 MBD5 TET3 CDH11 RAB3GAP1 ADAMTS10 GATA1 RAF1 NFKB1 ZIC1 LMX1B XRCC4 LAS1L ALX1 PIGT DEAF1 PTPN11 PDE4D ATP7A MS4A1 GRIA3 IRX5 POGZ ZBTB20 DSE TCF20 ERF STAC3 EHMT1 PIGO TCOF1 TBC1D20 PCGF2 NANS PQBP1 STXBP1 SETD5 SYT1 SLC25A24 OTUD6B MN1 POLR1C TBL1XR1 TBC1D24 ADAMTSL1 FKBP10 FKTN DPH1 SIM1 FLII PHF21A RAB18 RMRP B3GAT3 TTC8 EXT2 NBAS MGAT2 CNTNAP2 SP7 FBN1 PIGW BRAF RBM8A PRKAR1A EFNB1 NEK1 GABRD FHL1 PTH1R USP7 KMT2A HUWE1 CDK10 SATB2 TNFSF12 CR2 USP9X INTU RUNX2 NGLY1 NFKB2 CYP26B1 BMP4 PTCH1 TAPT1 BUB1B PRKCD PGAP3 PGAP2 FUCA1 AMER1 HP_PROGRESSIVE_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MICROCEPHALY RPL10 POMK ACO2 VPS53 ASNS SLC1A4 SNAP29 MECP2 CCDC88A ATP6V1A GOT2 TSEN2 COG1 FAR1 PTRH2 PPT1 SCN8A WWOX MED17 RNASEH2C NDUFS1 COG7 PCLO SLC2A1 SPTAN1 CLP1 IQSEC2 SEPSECS PNPO TREX1 CASK PYCR2 DPM2 RNF113A BRAT1 TUBGCP2 ZNHIT3 EMC1 SLC25A19 SLC39A14 SLC25A22 PCDH12 ATP6V1E1 COG8 VARS1 TRAPPC6B ATP6V0A2 EXOSC3 PLAA EFTUD2 AMPD2 EXTL3 RNASEH2A CDKL5 TSEN54 CDC45 PUS3 TOE1 ARFGEF2 STAMBP FOXG1 TSEN15 ZSWIM6 QARS1 CDC42 PNKP CYFIP2 ALG12 RARS2 MFSD2A MPC1 HP_WIDE_ANTERIOR_FONTANEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_ANTERIOR_FONTANEL COL11A1 PEX14 ROR2 PEX19 ETFDH PEX11B SIX2 ETFB LRP2 PEX12 P3H1 PEX10 ATP6V0A2 SLC25A24 PEX13 LIG4 FGFR3 PEX16 TWIST1 PPP2R5D SUFU FGFR2 DVL1 FLNA EP300 TALDO1 NSMCE3 MIR140 POR PEX3 TSHB SMG9 ANTXR1 MED12 MTOR KIF7 COL1A1 SEC23A ARX MASP1 COG4 PEX6 B3GLCT GLI3 GLIS3 ATRX PEX2 COL1A2 INTU PEX1 CDC45 COL11A2 PEX26 PEX5 ETFA FAT4 SOX9 SKI CRTAP PIEZO2 EBP NSUN2 WNT5A CREBBP ADAMTS2 DCHS1 DVL3 ALG9 HRAS SH3PXD2B SETBP1 HP_TURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TURRICEPHALY SLC12A6 FGFR2 SLC25A24 RECQL4 GPX4 FAM20C SP7 MEGF8 ARVCF MSX2 TBX1 FERMT1 COMT FHL1 FGFR1 ZIC1 TWIST1 JMJD1C IL11RA ERF RAB23 SEC24D SEC24C PEX5 HIRA RREB1 SKI SYT1 MN1 GP1BB PEX1 UFD1 FGFR3 P4HB HP_OXYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OXYCEPHALY FGFR2 TWIST1 MEGF8 RAB23 ZIC1 HP_ABNORMALITY_OF_THE_MASTOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MASTOID NBN RAG1 CDH11 DLX3 SLC39A14 RAG2 ATRX PAX1 HP_MASTOIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASTOIDITIS NBN RAG1 SLC39A14 RAG2 PAX1 HP_CRANIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_ASYMMETRY RNF135 FGFRL1 NRAS CTBP1 CPLX1 NSD2 HRAS MAF POLR3A KRAS SPECC1L PEX19 LETM1 HP_DOLICHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOLICHOCEPHALY CCDC8 FANCE SLC35D1 SHANK3 KMT2E NPR2 GDF1 WDR35 INPPL1 FBN2 FANCL PEX19 FBN1 PTEN RFWD3 SLC6A9 TGFB3 TFAP2A PWAR1 BRIP1 KRAS GLI3 NSD1 IFT122 IFT43 IFT52 PEX13 INTS1 IFT140 PEX10 PEX11B AKT1 FANCF NPAP1 PI4KA GATA4 FIG4 TRIM37 ATRX KMT2A PEX1 CEP57 BLM VDR FANCG YY1 PEX12 SLX4 TAB2 CHRNG FLT4 LETM1 FANCI SKI HGSNAT CNTNAP1 APC2 FANCD2 FGFR2 FANCA DLX3 KDM6B JAG1 NDN ARSB OBSL1 PEX2 IL11RA ALX4 XRCC2 ITCH PEX26 NKX2-5 UBA1 ZFPM2 UBE2T HERC2 GATA6 ASXL3 HSD17B4 MAGEL2 DYM HNRNPK KPTN MVK FANCB SNORD115-1 NKX2-6 MYH3 RAD51 RPL10 NOTCH2 ERF ATP6V1B2 PREPL TMEM216 FANCM ERCC4 TBX1 NOTCH3 PEX14 RAF1 PPP2R5D WDR19 KIF15 PEX5 SNRPN CUL7 BRAF RNU4ATAC EXOC6B PEX6 TBC1D7 IFT81 NFIX SNAP29 DPH1 SMC1A CNTN1 TWIST1 RAD51C BRCA2 DIS3L2 NELFA ALPL IDS MN1 MKRN3 ARCN1 CITED2 ORC4 RYR1 BRCA1 FKTN FGF9 OFD1 TRAIP C12orf57 NSD2 GATA5 SNORD116-1 PRPS1 SLC3A1 RAB39B KCNK9 MAD2L2 FANCC ERMARD PEX3 MAN1B1 GJA5 IL6ST VAC14 PWRN1 ZNF142 IDUA KDM5B SETD2 SMAD3 PALB2 PEX16 HP_PROMINENT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_OCCIPUT RIPPLY2 NOTCH2 NID1 ERF CCDC22 CTSK KAT6B WDR35 MED12 WDR19 SUFU KCNQ1OT1 NRAS IFT52 PLAGL1 HES7 LFNG SMG9 PIGA MOGS RNU4ATAC CDKN1C KIF7 TWIST1 IFT81 PIGN KRAS GLI3 MYCN FLNB IFT122 PHGDH TFAP2B ALX4 TBX6 ITCH IFT43 KCNQ1 FLNA HYMAI PSAT1 ATP7A IGF2 HRAS WASHC5 MESP2 TBC1D24 DLL3 HP_DELAYED_CRANIAL_SUTURE_CLOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CRANIAL_SUTURE_CLOSURE EFEMP2 TWIST1 MMP2 TBCE ROR2 USP7 PDGFRB ATP6V1A RERE FGFR2 CTSK POU1F1 P3H1 KCNAB2 PEX19 CHST14 LIG4 ZIC1 NLRP3 FLNA SMC3 EP300 ZMPSTE24 ASPA LMNA IGF2 FGFR3 NAA10 GABRD ANTXR1 MED12 AMER1 FAM20C SEC23A PRDM16 ATP6V1E1 PTDSS1 SKI ATP6V0A2 ALDH18A1 BANF1 RUNX2 FBLN5 CRTAP RNF125 ATP7A NSUN2 CREBBP ANKRD11 MAF HSD17B4 ADAMTS2 FAM111A RPS19 PEX14 ACTG1 POLR3A ACTB RPS6KA3 GLI3 SH3PXD2B HP_FACIAL_GRIMACING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_GRIMACING EP300 PANK2 ATXN8OS GATAD2B CREBBP GLI3 PNKD HP_SMALL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FACE SMS SLC16A2 KLHL41 NSDHL CHST3 SLC6A8 LIMK1 RFC2 ACTA1 B4GALT7 NEB NOTCH3 CEP152 LIG4 SLC9A6 GTF2I PQBP1 PPP1R15B PAX3 ELN UBE3B UPF3B KBTBD13 ERCC4 TPM3 SIN3A DDX11 CHRNB1 ATRIP TPM2 CLIP2 NHS LMOD3 INSR NFIX TBX1 TCOF1 MED12 FMR1 HYOU1 MYPN MYH3 CENPJ RLIM SIX1 AP4E1 COL5A1 SEMA3E NSUN2 CHD7 POLR1C POLR1D LMNA CXorf56 ATP7A ATRX TRMT10A BLM TRAIP B3GAT3 FGFR3 TNNT3 RYR1 FBXL4 COL1A1 PLK4 WRN BCOR RECQL4 TBL2 STRADA RBBP8 UBB FBN1 EYA1 GHR CFL2 PBX1 TBR1 COL5A2 NOG ATR PCNT SELENON BAZ1B RUNX2 TNNI2 NGLY1 SOX9 NALCN GRHL3 FLNA ZDHHC9 TUBB4A GTF2IRD1 MYH7 TRIP11 MTM1 DSTYK CENPE HP_NARROW_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FACE SMS SLC16A2 KLHL41 NSDHL SLC6A8 LIMK1 RFC2 ACTA1 NEB NOTCH3 CEP152 LIG4 SLC9A6 GTF2I PQBP1 PPP1R15B PAX3 ELN UBE3B UPF3B KBTBD13 ERCC4 TPM3 SIN3A CHRNB1 ATRIP TPM2 CLIP2 NHS LMOD3 NFIX TBX1 MED12 FMR1 HYOU1 MYPN MYH3 CENPJ RLIM SIX1 AP4E1 COL5A1 SEMA3E NSUN2 CHD7 LMNA CXorf56 ATP7A ATRX TRMT10A BLM TRAIP TNNT3 RYR1 FBXL4 COL1A1 PLK4 WRN BCOR RECQL4 TBL2 STRADA RBBP8 FBN1 EYA1 CFL2 PBX1 COL5A2 NOG ATR PCNT SELENON BAZ1B TNNI2 NGLY1 NALCN ZDHHC9 TUBB4A GTF2IRD1 MYH7 TRIP11 MTM1 DSTYK CENPE HP_RETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROGNATHIA POLR1A GLE1 COL13A1 NSDHL TRIP4 MPLKIP VAMP1 RTTN KAT6B CHST14 COG7 SLC6A9 TGFB3 ALG11 NUP188 SIX5 TGFB2 UBE3B MOGS COX7B SLC10A7 EMC1 MED25 GTF2H5 GLI3 MRPS22 FUT8 FZD2 PUS7 ORC6 HCCS GMNN MTM1 ATPAF2 LGI4 INTS1 DGCR8 SLC5A7 SPEG TELO2 TTN ABAT EP300 POLR1D HYLS1 IGF2 GTF2E2 TBX1 ACTB RNF113A SETBP1 KAT6A ITGA8 RSPO2 EYA1 CEP120 ESS2 PIEZO2 ACTA2 HDAC8 SEMA5A TMEM107 MYMK ZC4H2 ASXL1 SMAD4 RSRC1 OCLN PRKG1 TRIP11 TMEM70 DVL1 FANCB LMNA C2CD3 EED ROR2 PLAGL1 MEGF8 PSMD12 SKI CEP152 AP3D1 NFIX MYH7 MBD5 ORC1 KLHL7 DGCR6 KIF7 PRMT7 DSE CTU2 HBA1 EBP NAA10 PHGDH NSMCE2 TAF1 SEC24D CCBE1 RYR1 FBXL3 EDN1 HYMAI SF3B4 BNC2 ERCC2 WNT5A FARS2 RBBP8 RARB HSD17B4 LTBP4 ERF ACTG1 DVL3 ADAMTS2 KPTN MYH11 NUP88 RPL10 MYO9A PREPL CHST3 CCDC88A SMOC1 AGRN PCNT COL3A1 SNAP25 EIF4A3 LAS1L CENPJ SMAD3 DHCR24 FOXP1 MFAP5 ARNT2 ZBTB24 OFD1 FRMPD4 BCL11A CTBP1 SIN3A IGBP1 LOX COG6 RNU4ATAC ELN ZNHIT3 COL1A2 COG5 FAM20C SIX1 EZH2 RPL5 ERCC3 TCOF1 IBA57 CEP135 ASPH AUTS2 ADAMTS3 GBA PUF60 TGFBR2 CEP55 DIS3L2 FBN1 CRIPT CTNND2 TGFBR1 CREBBP ORC4 OTUD6B POLR1C ARCN1 CRLF1 SLC25A1 BIN1 ALG9 CRPPA NSD1 WDR35 SIM1 TARS1 B3GAT3 SLC3A1 PAX1 SLC25A24 MGAT2 CHAT ASXL2 ATP6V1A SELENON SUZ12 TCTN3 POLR3A DGCR2 SLC18A3 CDC45 CDC6 CANT1 SLC35A3 FOXE1 POLA1 FHL1 MYLK PIGN ACTA1 INTU COL1A1 TPM2 GLDN CDT1 IGF1R MAGEL2 BMP4 PSAT1 MAT2A NDUFB11 NBN FTO SYT2 PMM2 MAMLD1 RPS19 FOXE3 SPATA5 FAT4 THOC6 ARID2 DSTYK HBA2 AMER1 HP_COARSE_FACIAL_FEATURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_FACIAL_FEATURES SNX14 ABCC9 SLC26A4 PIGY CCDC47 LIMK1 PHF6 MPLKIP ARID1A KLHL15 NAGA SMARCC2 ABCA5 SGSH ARID1B TCF4 ARX GPC3 SETBP1 SMARCD1 ELN LAMTOR2 RPS6KA3 MED12 GUSB BRCA1 INSR SLCO2A1 KRAS GNE GTF2H5 CHD4 CLIC2 GPR101 DYM TBCK TSHR GLA GNS PTCH1 SOX11 HESX1 AP4E1 ZNF148 AP4M1 COL2A1 WDR26 LHX3 P4HTM MCOLN1 BCORL1 DENND5A HRAS GTF2E2 RNF113A MMP2 KCNH1 VPS33A CEP120 AP4S1 GALNS NKX2-1 STAT3 MYSM1 ANTXR2 NAGLU MAN2B1 GPC4 AIP GJA1 GLB1 SMARCB1 BRAF AGA MCTP2 HGSNAT PIGN APC2 PIGA NEU1 ATRX AIFM1 CTSA NKX2-5 ARSB FLNA FAR1 NAA10 MAP2K1 HUWE1 BAZ1B EXTL3 WAC SMARCA4 EXT2 PUS3 RBMX GNPTAB MMP14 IGF2 FBXO31 DUOXA2 SOST GTF2IRD1 ACTG1 PAX8 PIGV DPF2 SH3PXD2B AP4B1 ADNP CUL4B NOTCH2 AIMP1 MBD5 RFC2 HPGD PROP1 BSCL2 POU1F1 SLC17A5 MEN1 LHX4 CLCN4 IDUA GTF2I TPO TSHB SUMF1 MAP2K2 FOXE1 KIF15 PDE4D CLIP2 FMR1 TBC1D7 SLC5A5 FUCA1 EHMT1 ERCC3 PLAA PIGO DNMT3A KAT6B RIN2 L1CAM ACER3 NANS DUOX2 PIGL MRPS34 PACS2 HEXB KCNJ8 IDS AFF4 ERCC2 TBC1D24 CNTNAP2 OFD1 C12orf57 SOX4 GNPTG TARS1 IYD TG SMARCE1 KCNQ1OT1 TBL2 PIGW PIK3C2A NSD1 PTCH2 FHL1 CDKN1C AP1S2 PIGS ARID2 SLC35A2 SLC35C1 KCNQ1 MAGEL2 FTO MPL TRHR PGAP3 SETD2 ACTB PGAP2 SUFU AP3B1 WDR81 HP_FACIAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_EDEMA SNX14 GSN CDH11 SHANK3 CAMTA1 LIMK1 RFC2 MYD88 PEX2 FRMD4A FRG1 PSMB9 AIP GTF2I FOXG1 ZNHIT3 TBL2 HAVCR2 ALB SOX18 POMP RIN2 ELN F12 DNMT3B TNFRSF1A CTLA4 PIEZO1 CLIP2 PSPH PSMB4 KCTD1 SLC29A3 ADAMTS3 SUMF1 BAZ1B IGSF3 PEX5 EPHB4 CCBE1 NEU1 ABCC9 SMCHD1 GNPTAB SERPING1 DUX4 HLA-DPB1 KIF1A HLA-DPA1 PTPN22 KPTN ADAMTS2 GPR101 LTBP4 GTF2IRD1 ACTG1 ANTXR1 ACTB PRTN3 HP_BROAD_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FACE FLNA PTCH1 UBE2A TGFB3 FLNB AGA SNX14 PDE4D IDUA NFIA PTCH2 TBL1XR1 SUFU ZNF711 RAI1 BRAT1 HP_EPICANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS TWIST1 PIGY CTBP1 LIMK1 MPLKIP KRAS BLNK KCNAB2 WDR35 RPS28 FANCL FGF20 CD79A FOXG1 MAPRE2 GPC3 LIG4 KIF11 ELN UBE3B ARID1B BRIP1 DDX11 ATRX MED13L MED25 CBL CHRNG SALL4 FGFRL1 PUS7 IFT122 BMP2 GJA1 COLEC10 KMT2A TBX1 NRAS SHOC2 IFT43 PEX1 NFIX CHRNA7 SOX11 KANSL1 RAF1 PIEZO2 PEX6 KIF1A ROR2 DCHS1 TRIP12 FIBP SHANK3 HRAS RNF113A HIBCH CEP57 KCNH1 FGD1 CHRND VPS33A GATAD2B WDR4 MYMK SLX4 PEX10 FLI1 CTCF GPC4 PTCH2 DVL1 BRAF C12orf4 SUFU MEGF8 AFF2 MIR140 UNC80 BUB3 OFD1 PIGN CASK GREB1L ARVCF EXOSC9 COL11A1 KIAA0586 FANCA RERE UQCC2 KDM6B PEX12 MASP1 HBA1 PTPN11 SKI RAB23 DOCK3 HNRNPH2 CHD3 XRCC2 CPLANE1 TOE1 DHX30 KAT6A GNPTAB COL5A2 TBX2 VEGFC UBE2T WNT5A ALX4 HSD17B4 GTF2IRD1 ADAMTS2 COG8 UFD1 LETM1 FANCB PIGV MYH3 RPL10 PEX14 SEPTIN9 COL18A1 PREPL FANCM RFC2 ERCC4 NOTCH3 HELLS FLT4 LMBRD1 XRCC4 ZNHIT3 DHCR24 EP300 NSDHL ZBTB24 ALX3 NSD2 ACOX1 SIN3A PDE4D CLIP2 COG6 COMT FGFR2 MYCN JMJD1C GLIS3 TCF20 ZBTB18 ERCC3 EFTUD2 PEX5 PDHX ATP6V0A2 DNMT3B NANS AUTS2 HIRA TBCK BRCA2 GJC2 NELFA DVL3 SYT1 SRY STAG2 CPLX1 NSUN2 CREBBP FOXL2 TRRAP UGP2 DNAJC21 WDR34 RYR1 BRCA1 IGLL1 BUB1B EZH2 ZNF469 TMCO1 SOX4 TARS1 PEX2 SIX2 PNPLA6 MAD2L2 NBAS ABCA5 COL5A1 KDM6A GATA4 CHAMP1 FAT4 RMRP ARID1A CSNK2A1 DYNC2H1 PIK3C2A PEX13 SMARCE1 PIEZO1 NAA10 HECW2 CCBE1 MED12 BUB1 PBX1 PPP1R15B HUWE1 BRAT1 ARID2 SOX5 TUBB XYLT1 SPECC1L SEC24C COL1A1 ALX1 SOS1 PRKAR1A PTCH1 BCL11B QARS1 NR2F1 PMM2 RET RB1 SON TPRKB DNMT3A PALB2 PGAP2 THOC6 PDE6D AMER1 ABCC9 FANCE RSPRY1 DHCR7 GPC6 PPP1CB SMARCC2 AMACR SC5D PEX19 TCTN3 RECQL4 IFT80 PEX16 RFWD3 SHROOM4 SMARCD1 NUP188 RPS6KA3 PIGL IGHM GNE GTF2H5 TUBB3 CHD4 PRDM16 FZD2 LRRC8A PLOD1 COLEC11 INTS1 RREB1 ZNF148 TMEM237 SEMA3E FANCF PEX26 PAH CHD7 SNX14 TRIP13 CNOT1 SPRED1 RAB3GAP2 B9D2 GTF2E2 ACTB TRMT10A NXN FANCG DLX4 SEMA5A GATA2 FGFR1 TAF1 MAN2B1 ANK1 MLXIPL WDR60 SMARCB1 EED FANCI KAT6B CNTNAP1 TRAF7 UGDH SLC25A24 FANCD2 NF1 CAMK2A MECP2 PRMT7 ADAT3 MAB21L2 MAP2K1 EEF1A2 TWIST2 BAZ1B PAFAH1B1 UBE3A SMARCA4 DYNC2LI1 TLK2 TBX4 GP1BB RHOBTB2 REV3L NONO ACTG1 TRAPPC9 RIC1 DPF2 RAD51 CERT1 PEX3 CCDC88A ATN1 PEX11B RIT1 FAM149B1 GATA1 SLC17A5 PLXND1 GTF2I INPP5E WDR19 ALG3 SCN4A BMPER PQBP1 IFT52 YWHAE MAP2K2 BCL11A FGFR3 COL1A2 SLC26A2 CDK13 CDCA7 HOXB1 KIF7 PIGO RPS23 KIAA0753 DPH1 AHI1 SMC1A TBX22 ADAMTS3 RAD51C PUF60 DIS3L2 SPART CTNND2 EBP KCNJ8 ERCC2 CD79B TBC1D24 EBF3 CD96 ALG9 MPC1 SIM1 CHRNA1 LONP1 PIK3CA PHF21A SLC3A1 HNRNPU FLNA FANCC FBXL4 EXT2 PPP2CA TRIO ALDH6A1 WNT7A TBL2 TMEM216 HIC1 PIGW PHIP NOTCH2 GABRD TCF3 PIK3R1 CDK10 KCTD1 CSPP1 ITGA8 BPTF EIF2AK3 MAN1B1 CUL4B SNRPB PGAP3 RPS19 ALDOA B4GALT7 WDR73 COL3A1 HBA2 OSGEP SOX18 HP_ABNORMALITY_OF_THE_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHILTRUM SNX14 SMS PIGY CTBP1 CAMTA1 LIMK1 CLCN4 NEK9 KCNAB2 KIFBP AFF4 ARID1B DDX59 FOXG1 TCF4 MAPRE2 KCNJ11 CCNK LTBP3 COG7 KIF11 ELN UBE3B UPF3B NEB MED12 FOXH1 NXN DPM2 MYH3 CLTC CPLX1 ADSL MED25 SMC1A CBL RAB39B CHRNG CLIC2 FGFRL1 PUS7 BMP2 GJA1 COX7B ARHGEF6 KMT2A TBX1 SHOC2 CHST3 SLC6A17 WDR35 DYRK1A NFIX SOX11 RUNX2 BPTF SEC23A AP4E1 IREB2 PIEZO2 ROR2 KCNK4 FGFR1 HDAC6 ARX TRIP12 SPECC1L IL1RAPL1 DENND5A B3GALT6 NECTIN1 SETBP1 RAI1 SMARCA2 PTCH1 KDM5C MTOR KCNH1 FGD1 CHST14 SRCAP GATAD2B KIT CKAP2L ZC4H2 FLI1 CTCF OCLN SIX3 TAB2 GAS1 TMEM70 BCOR DVL1 INPPL1 BRAF MIR140 RAD21 UNC80 MCTP2 COL2A1 AP3D1 OFD1 PIGN CASK NALCN ARVCF SLC26A2 FLCN RPS6KA3 COL11A1 MID2 ATRX RERE TRIP11 COG1 TGIF1 TBR1 MAPK1 GCK DSE EXT1 MYH8 BRF1 FBXO11 IQSEC2 SKI FAR1 RAB18 PHGDH HNRNPH2 ARHGEF2 MED13 TAF1 TBC1D20 ABCC8 B3GLCT EXT2 TSPAN7 NTNG1 GNPTAB FGF8 CRTAP OCRL BMP1 WNT5A NEXMIF ALX4 MAF HSD17B4 LTBP4 GTF2IRD1 LARP7 UFD1 LETM1 TDGF1 PIGV AP4B1 RPL10 RFC2 TRIO PSMD12 CDH11 NOTCH3 RAB3GAP1 ACTA1 METTL23 MOCS2 PPP2R5D FGFR2 MEIS2 DPF2 C12orf57 LFNG SUMF1 NSD2 ANKRD11 EXTL3 DEAF1 SIN3A CUL7 CLIP2 COMT OPHN1 JMJD1C GLIS3 PEX26 GRIA3 ZBTB18 PLAA EFTUD2 ERCC6 ATP6V0A2 FGF3 AUTS2 HIRA CDKL5 BCR STXBP1 NELFA SETD5 DVL3 SYT1 KDF1 OTUD6B TMEM94 TRRAP UGP2 WDR34 ATP6V1B2 ZNF41 CXorf56 ATP7A EMC1 EZH2 DPM1 TBC1D24 SLC35A1 TMCO1 SOX4 ZNF711 TRPS1 FZD2 KCNK9 SON SLC25A24 NBAS WDR19 NUP107 CHAMP1 SH3PXD2B SYP VPS13B PACS1 RNU4ATAC ARID1A ATP6V1E1 NODAL TALDO1 GDI1 DYNC2H1 PRDX1 TCTN3 SMARCE1 RAB3GAP2 POLR3A SLC9A7 PYCR2 NAA10 CCBE1 KCNJ6 XYLT2 PBX1 HUWE1 AP1S2 SATB2 BRAT1 PIGT PIGS NOG TFAP2B USP9X ARID2 TUBB XYLT1 SEC24C CCDC22 EIF2S3 NSUN2 IGF1R MAGEL2 PDHA1 BCL11B NBN DLL1 ALG8 PRMT7 PMM2 CDC6 HDAC8 PGAP2 THOC6 ABCC9 RIPPLY2 CCDC8 SHANK3 CSNK2B DHCR7 GPC6 PPP1CB PTPRF MYO18B MGP RTTN SMARCC2 SC5D STAG2 IFT80 MYMK FTSJ1 MAPK8IP3 SNAI2 SMARCD1 HES7 TGFB3 ALG11 PARS2 TFAP2A YARS2 PIGL QRICH1 CLCF1 CDON NIPBL GNE HRAS HCFC1 PRDM16 MEF2C PUF60 HSPG2 TBCK PUS1 COLEC11 TXNL4A INTS1 RREB1 ZNF148 TMEM237 AP4M1 ADNP EXOC6B PAH COL11A2 MESP2 CNOT1 CHSY1 ALG12 FIG4 SMC3 ACTB PRKDC ZIC2 FBN1 ALG9 TRMT10A CTNNB1 TNNI2 TTC37 AP4S1 TBCE NKAP NRXN1 MAP3K7 SLC2A10 KRAS IFT57 MLXIPL WDR60 SMARCB1 MECP2 PPP2R3C PCLO POR UGDH GABBR2 CNKSR2 MMACHC DISP1 APC UBE2A OBSL1 MAP2K1 TWIST2 BAZ1B SMARCA4 DOCK7 UBA1 PTH1R SLC45A1 MOCS1 FREM1 EXOSC2 SMOC1 ZDHHC9 ADAMTSL2 PLOD3 GP1BB RHOBTB2 NONO ACTG1 RIC1 ERCC1 PTCHD1 ACSL4 NOTCH2 CERT1 NRAS CRLF1 TET3 ATP6V1A ATN1 NLRP1 COL3A1 GTF2I TWIST1 MID1 LMX1B PAM16 LRP4 FLNA PTEN USP27X PPP1R15B MAP2K2 MUSK KIF15 PDE4D IRX5 CRKL POGZ SHH INS IFT81 CDK13 HOXB1 PIGO CDC42 TAF6 DNMT3A ALG13 RIN2 ACER3 TENM3 AGTR2 ADAMTS3 PQBP1 DIS3L2 PAK3 GLI2 KCNJ8 BRPF1 TRAPPC9 IFIH1 ORC4 TBL1XR1 ADAMTSL1 DLL3 KAT6B EBF3 NSD1 MPC1 WDR4 CAMK2G FLII PDX1 PAX3 FRMPD4 AVP PIK3CA PHF21A HNRNPU MARS2 DLG3 PPP2CA CNTNAP2 ALDH6A1 TBL2 RNF135 ERMARD SUZ12 DHX37 PIGW DMD PHIP MAN1B1 TUBGCP2 GABRD VAC14 TRAPPC4 CDK10 SUFU IARS2 PSAT1 KIF7 SMAD4 CUL4B BUB1B NFIB TPM3 MAB21L1 SNRPB PGAP3 WNT4 KLHL41 FAT4 ANTXR1 ERLIN2 EED PITX2 ZNF81 AP3B1 CD96 HP_BROAD_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHILTRUM SNX14 DPF2 ERMARD PIGY TMCO1 PIGW PIGO MAF PGAP3 CDH11 KCNK9 COLEC11 TBL1XR1 FGD1 PGAP2 ALX4 PIGV PIGL WDR35 SMARCA2 HP_ABNORMALITY_OF_THE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREHEAD STIM1 TWIST1 FGFR3 CTBP1 CAMTA1 SLC6A8 KCNJ1 TCIRG1 NHEJ1 CDK6 FRMD4A KIF7 LRP4 KCNAB2 SLC13A5 TCF4 EDA2R RRAS2 STIL UPF3B KCNJ11 FGFR2 BRIP1 DDX11 KRAS ADSL MED25 COL2A1 CBL TCF12 STAT3 TTC37 NSD1 BPNT2 GJA1 LRP5 COX7B SCN8A PEX1 WDR35 CC2D2A WWOX NFIX BGN LGI4 PTCH1 NCAPG2 SEC23A RAF1 USP9X KCNK4 FGFR1 HDAC6 FAM111A DYNC1I2 SETBP1 RAI1 TFAP2A CEP57 KCNH1 PDGFRB PIGQ XRCC4 RPGRIP1 GATAD2B IFT43 CKAP2L MRAS PEX12 SLX4 PEX10 PTCH2 INSR OCLN CACNA1B TAB2 SUFU DVL1 INPPL1 BRAF RAD21 BUB3 OFD1 CEP290 NALCN MBD5 SLC26A2 PURA FLCN ATRX AKT3 FANCA TRIP11 KDM6B KDM1A KLHL7 PEX7 FBXO11 VARS1 COG4 PHGDH TSEN54 CHD3 TAF1 SEC24D XRCC2 TMEM67 ITCH ABCC8 CCDC8 DLX3 TENT5A NKX2-5 DICER1 ZFPM2 PHC1 SOX9 OCRL ZSWIM6 SUZ12 PIK3R2 ACTL6B GATA6 WNT5A NEXMIF ATAD3A HSD17B4 RPS6KA3 EEF1A2 MAGEL2 KCNB1 LTBP4 PMM2 GTF2IRD1 LARP7 LETM1 FANCB SNORD115-1 SH3PXD2B AP4B1 GPKOW PIGY ATP6V1B2 SH2B1 SMARCD1 FANCM TRIO TBX1 AGRN SNX10 MEN1 RNF13 TONSL PPP2R5D DPF2 C12orf57 EP300 CLTC LFNG ALX3 KIF14 ANKRD11 EXTL3 DEAF1 SIN3A SNRPN CUL7 CLIP2 GCK ERCC2 POR WDPCP PLK4 TBC1D7 ACTG2 PIGP CLCN7 ZFP57 PEX26 NPR2 ERF NCAPD3 UBA5 ITGA3 GPC4 SOX5 PEX5 PCGF2 CEP135 NANS TBCK PLA2G6 RNF125 CRIPT PTDSS1 CPLX1 AIP CREBBP MN1 GNAO1 UGP2 PREPL SLC25A1 WDR34 PARS2 SOS1 CRPPA RAB39B RERE EDARADD RNPC3 NSD2 GATA5 RAB18 MKS1 TRPS1 PEX2 FZD2 KCNK9 MAD2L2 SIX6 MED12 FGD1 NBAS PPP2R1A GATA4 VPS13B PACS1 PLAGL1 GJA8 DYNC2H1 KCNA1 PRDX1 MYH3 PEX13 KIDINS220 SLC18A3 PIK3R1 NAA10 HECW2 PWRN1 CDKN1C KMT2A HUWE1 ARX COL11A1 PIGN PIGT FGF12 RPL10 ABL1 RIT1 JAG1 COL1A2 SLC35C1 KCNQ1 ALX1 PEPD FAT4 PDHA1 KIAA0556 TAPT1 KCNA2 NBN KDM5B QARS1 IFT122 CDC6 RECQL4 POLR3A DNMT3A HDAC8 PALB2 PEX16 THOC6 PDE6D P4HB CAMKMT ABCC9 DNM1 ASNS KMT2E GPC6 RTTN SCN3A AMACR NAB2 SC5D STXBP1 CHD1 STRADA TCTN3 PPP1CB A2ML1 MCPH1 HES7 NUP188 COASY CDK5RAP2 BRCA1 GRIN1 MSX2 ZNF335 RNU4ATAC B3GALT6 AMER1 B3GLCT PRDM16 ERCC1 FLNB MEF2C EDA PUF60 DYM GMNN IFT52 COLEC11 ORAI1 IFT140 TMEM237 PEX11B AP4M1 LAGE3 TRAF6 BMP2 LBR PAH TUBGCP4 WASHC5 SCN2A TMEM216 RSPRY1 BCORL1 PITX2 TMCO1 TRIM37 GLI3 CDH1 PRKDC PEX19 ALG9 TRMT10A NXN NID1 TBCE SLC12A6 MAN2B1 IFT57 WDR60 FLT4 EED PPP2R3C MFSD2A KCNJ2 SLC25A24 FANCD2 MMACHC MBTPS2 NEU1 ERCC5 GNPAT CTNND1 LRP2 POLE ADAT3 BRWD3 MAB21L2 DVL3 IL11RA ASPM CEP63 BAZ1B PAFAH1B1 CYFIP2 ATIC CCBE1 DOCK7 AP1S2 HS6ST2 GK ATP7A TWIST2 EXOSC2 SMOC1 ZDHHC9 GYPC TBX4 EBP ACTB SOST NONO ACTG1 CASK SRC FLNA MAP11 RAD51 TET3 KDF1 ATN1 PCNT LIG4 TP63 CDK8 ZIC1 ZIC2 ERCC6 INPP5E WDR19 CENPJ YWHAE EXT2 SMC3 KYNU MAP2K2 FREM1 APC MPDZ RNF113A GNPTAB IGBP1 CHST3 ZNHIT3 ZBTB20 FMR1 PIGL INS IFT81 AP4S1 SLC9A7 TCOF1 TAF6 DPH1 SMC1A FH RLIM ADAMTS3 RAD51C DIS3L2 RSPO2 PRKD1 CDC42 MBTPS1 TBL1XR1 TBC1D24 DLL3 POC1A FLII CYP27B1 SETD5 LZTR1 MAP3K7 CCDC22 PNKP SNORD116-1 KIF11 POU1F1 TFAP2B PPP2CA CNTNAP2 CHAT ALDH6A1 SERPINH1 FBN1 CTCF HIC1 DHCR24 PHIP GABRD ADK TRAPPC4 COPB2 CSPP1 SUMF1 GABRA5 SLC25A19 RRAS IARS2 NUP133 CYP2R1 ANKLE2 BUB1B NFIB MAB21L1 WNT4 SETD2 NDE1 TGFB1 SCN1B ANTXR1 SLC34A3 SLC16A2 OSGEP NCAPD2 SNX14 PPM1D GLE1 CCDC47 LIMK1 GJA5 PDX1 B4GALT7 EDAR FBN2 FANCL AFF4 DDX59 FOXG1 AMMECR1 CCNK COG7 ELN CNKSR2 CTSK DPM2 SLC1A2 PWAR1 CEP55 ADAM22 ATR MED13L EPB41 FGFRL1 FUT8 ALDH18A1 NRAS SYNJ1 RUNX2 CDKL5 ALG11 DYRK1A CHRNA7 TRAK1 KANSL1 KNL1 AP4E1 TBX15 SLC5A7 PEX6 SHOC2 HRAS ROR2 HMGA2 DCHS1 POLR1D SPECC1L IGF2 RARS2 DENND5A GABRA2 SLC25A22 SMARCA2 MMP2 KDM5C MTOR MGP VPS33A COL13A1 ZC4H2 TSEN2 FLI1 PIK3CA C2CD3 SOX2 MEGF8 NTNG2 SKI MIR140 UNC80 CEP152 LARS1 EMG1 KIAA0586 PRUNE1 TRPV4 NDN B9D1 CTU2 HBA1 LRPPRC IQSEC2 SZT2 VPS33B CPLANE1 KAT6A TBX2 STAMBP LEMD3 COL27A1 BMP1 UBE2T HERC1 ASXL3 MAF TECPR2 KPTN SOS2 COL10A1 CACNA1A CCND2 MYO9A PEX14 RBM10 GPT2 PHEX RFC2 ERCC4 DMXL2 GABRG2 CDH11 NOTCH3 GTPBP2 SNAP25 MOCS2 CCNQ MEIS2 FOXP1 GCDH ARNT2 RAB3GAP2 ACAN FRMPD4 LMNA NECAP1 DSE OPHN1 FUCA1 SKIV2L GLB1 TCF20 ZBTB18 AARS1 WDR62 SLC25A46 STAT6 TBC1D20 VDR TTI2 GHR SPTB BRCA2 NELFA SYT1 YWHAG NSUN2 POLR1C TRRAP DDR2 NFIA CITED2 KIF22 NFKBIA RYR1 EMC1 PYCR1 TCTN2 SASS6 B3GAT3 ETFDH SIX2 SON ALX4 NUP107 TUBGCP6 KCNQ1OT1 RMRP SP7 PIK3C2A CPT2 PYCR2 EFNB1 EFEMP2 BUB1 SATB2 PIGS DHDDS INTU HDAC4 PPM1B NEUROD2 CTNS PEX3 BMP4 TMEM107 HCN1 SYT2 DOCK6 PRMT7 SYNGAP1 RIPPLY2 LIFR FANCE GDF1 CTSD ARID1A VAMP1 NOTCH2 KAT6B STAG2 CHST14 IFT80 RBM8A RFWD3 SPRTN PSAT1 SMG9 ATP6V1A TTC7A NIPBL COL1A1 PTEN GNE CENPE YY1 KIFBP HSPG2 GNS INTS1 ZNF148 FRAS1 FANCF ADNP NTRK2 PTHLH NPAP1 TRIP13 MESP2 GPR101 CNOT1 P4HTM PHF8 EIF2S3 FAM149B1 FIG4 B9D2 ACOX1 NLRP3 FARSB FANCG DLX4 ASXL1 NRXN1 GPAA1 TAF13 MLXIPL RBBP8 TAZ FANCI IGF1 APC2 PAK1 AIFM1 NCAPH UBE2A SPTA1 OBSL1 MAP2K1 AMPD2 WAC KCNJ6 RPGRIP1L TRIM8 ETFA MOCS1 NPHP3 HERC2 IER3IP1 SHPK FGF10 AP3B2 TRAPPC9 KATNB1 PUM1 NKX2-6 NUS1 CUL4B CCDC88A ETFB GRIN2D ATP6V0A2 GTF2I MID1 LMX1B PAM16 PPP1R15B RASA2 DHCR7 THOC2 PDE4D METTL5 PSPH COG5 KREMEN1 D2HGDH BMPR1A EZH2 KIAA0753 ARV1 ACER3 HOXD13 SLC3A1 VIPAS39 ALPL FOXC1 KCNJ8 MKRN3 BRPF1 IFIH1 ADAMTSL1 EBF3 SCYL2 ORC1 WDR4 CAMK2G PTPN11 HNRNPU SMAD3 PPP3CA FANCC GABRB2 SMARCE1 SIK1 TBL2 SIK3 RNF135 ERMARD RELN AP1S1 TUBGCP2 VAC14 MITF DYNC1H1 TMEM231 CWC27 EIF2AK3 HYMAI IDUA MAN1B1 ZMPSTE24 CIT WDR73 ARID2 HBA2 HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE ERCC6 PPARG ZMPSTE24 LMNA KCNJ6 LMNB2 POLR3A ERCC8 HP_FULL_CHEEKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FULL_CHEEKS SNX14 EFEMP2 VPS33A NOTCH2 SHANK3 NRAS CRLF1 KMT2E KLHL7 ELMO2 CCDC88A PLCB4 PCNT SC5D STAG2 MOCS2 AFF4 LMX1B ZNHIT3 GNAS TCF4 HRAS PPP1R15B MAP2K2 LMNA EXTL3 WDR26 CEP55 B9D2 PSPH CLCF1 WDPCP SLC29A3 BMP2 SH3BP2 HSPG2 IFT52 FBLN5 CC2D2A FGF3 INTS1 PUF60 ATP7A STXBP1 KIF1A PAX1 NEK9 GPR101 IDUA CDK5 TMEM216 SLC26A2 EIF2S3 AGL NALCN CSPP1 FBN1 WDR35 SIM1 TRMT10A KCNH1 MAP3K7 TCTN2 DPYD RPGRIP1 ELN KIF11 STX16 KRAS MLXIPL WDR19 GATA4 PIK3CA AIP TAZ ALDH18A1 BRAF PCLO SOX11 GNAI3 KIDINS220 CEP290 TGDS LARS1 H1-4 KDM6B B9D1 PIGN MAP2K1 MKS1 WAC TMEM67 TMEM231 EDN1 RPGRIP1L ASXL1 EYA1 MOCS1 TMEM107 OCRL IER3IP1 IFT122 SON ACTG1 TBCE TBL1XR1 ACTB TECPR2 FLNA SH3PXD2B HP_LOW_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ANTERIOR_HAIRLINE SETD5 TRMT10A TWIST1 KCNH1 NOTCH2 MAP3K7 PACS1 RAB18 SLC12A6 HDAC8 ARID1A DOCK7 ASXL1 FRMD4A STAG2 SLC25A24 MAN2B1 LIG4 INSR SMARCE1 ZIC1 XRCC4 VPS13B COG7 SMC3 EP300 ERMARD RAB3GAP2 PPP1R15B PEPD RAD21 IGF1 PIK3C2A BRCA1 DPM2 FGFR3 AIFM1 ABCC9 MED13L EMC1 KLHL7 NIPBL KMT2A SMC1A KREMEN1 FGFR2 LRPPRC SH2B1 TCOF1 HSPG2 TAF6 TBC1D20 NANS TBX2 ANKRD11 ARX TWIST2 NBN DOCK6 NSUN2 CREBBP KCNJ8 MAB21L1 POLR1C TECPR2 POLR1D TMCO1 TBC1D24 TCF12 SMARCA2 HP_FACIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPOTONIA KDM5C MECP2 ATRX GRIA3 AP4S1 TBCD TET3 AMPD2 ZBTB11 YY1 NGLY1 POGZ PCGF2 AP4E1 MAN2B1 AP4B1 STRADA PPP2R5D PPP2R1A CHAMP1 VPS13B AP4M1 UNC80 STAG2 KCNK4 MYOT RAB11B HERC1 XYLT2 DSE CAMK2G HP_MASK_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASK_LIKE_FACIES MAPT MRE11 PDGFRB POLG PIEZO2 SLC6A8 FRG1 PLXND1 ADH1C PRNP PANK2 PABPN1 PDGFB SNCAIP SLC20A2 ATXN2 ATP6V1A KMT2D DCTN1 FMR1 DNMT3B MYH3 TK2 FA2H TBP ATXN8OS TH GBA ACTA1 TRIM32 HSPG2 ATP13A2 MTM1 UBE3A KCNJ6 SMCHD1 NR4A2 ATP7A DUX4 ITPR1 UBA5 ATP6AP2 KDM6A REV3L FKTN PAX6 GLUD2 HP_OVAL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVAL_FACE SH2B1 NFIX EBF3 CNTN1 B3GALT6 TSPEAR CASK TP63 PUF60 SOX18 HYOU1 HP_ABNORMALITY_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE BMS1 GLE1 SLC39A14 LRP4 SGCD DNAJC13 TCIRG1 CLCN4 SUCLA2 NEB GBA NARS2 SPTBN2 SIX5 ADCY6 SOST RRM2B TK2 SIX1 RAB39B SLC52A3 SALL4 CHRND CHD7 ARHGEF6 DNA2 TRPV4 CHRNA1 TPM2 GFPT1 RYR1 POLG2 AP4E1 AGRN AK9 MEGF10 SLC5A7 TNFSF11 ATP1A3 KCNK4 GIGYF2 COLQ ARX AKT1 COL6A2 GAN IL1RAPL1 MYH7 ATP6AP2 TFAP2A KDM5C SCN4A SEMA3E POLG TBCD COL13A1 MYMK ZC4H2 MECP2 MAN2B1 GJC2 CHCHD10 PABPN1 FKRP STRADA CHRNE COL6A3 COX8A DNAJC6 DES FTL UNC80 PEX1 NOD2 RPS6KA3 MID2 LRP12 CRPPA CLCN7 SELENON LAMA2 ATXN1 LRP5 COL4A1 SLC18A3 GMPPB TSPAN7 PODXL MTMR2 CNTNAP1 PLEC JAM2 ADSS1 SUFU ANKH GNE TECPR2 PEX16 SPTBN4 ALG14 PEX11B NF2 ALS2 MYO9A PEX5 SLC52A2 SNX10 SMO COX6B1 ACTA1 PEX12 SNAP25 LRRK2 PRKCG COX14 DPAGT1 DLL4 ADA2 BAP1 EYA1 CC2D1A CHRNB1 SQSTM1 DSE COA3 GRIA3 PLAA PCGF2 MGME1 AP4B1 ERLIN2 DMPK PPP2R5D MSX1 CHKB CACNA1S PEX19 IQSEC2 STAG2 RAB11B COL6A1 SLC25A1 ZNF41 TPM3 DNAJB6 IRF2BPL GSN ZNF711 ZBTB11 KCNK9 FBXO7 PPP2R1A FKTN CHAMP1 DNM2 SYP GDI1 ABCA1 MYPN SLC9A7 SNCA TTN XYLT2 CFL2 COX20 ADCY5 NGLY1 MPZ EIF4G1 SYT2 LAMB2 DNM1L SLC25A4 SLC25A21 POMT1 MED12 TUBB6 MTM1 MTMR14 OPA1 AMER1 IRF6 TRIM32 KLHL41 SCO1 CAPN3 SH3TC2 VAMP1 ALG2 FTSJ1 TACO1 UPF3B ATRX HERC1 PET100 HCFC1 SYNE1 TUBB3 LMOD3 PLA2G6 SLC18A2 PEX26 ANO5 PIK3CA CXorf56 TXNL4A AP4M1 SPEG COX10 PEX3 BTNL2 RAPSN AP4S1 SLC12A6 YY1 MYL1 COA8 GJA1 MUSK RNASEH1 CLCF1 PEX13 CNKSR2 DCTN1 ATP13A2 BIN1 YME1L1 PTDSS1 DOK7 AMPD2 PDGFB FLNC VPS35 POMT2 TRAF7 PEX2 MT-TN SCO2 COL12A1 MYOT REV3L MSTO1 PTCHD1 ACSL4 CRYAB TET3 TWNK TERT NEFL PLXND1 ACADS USP27X KBTBD13 TP63 POGZ PEX6 SLC30A10 SPR VCP HOXB1 NECTIN1 ITGB4 KLHL40 ALG13 ASAH1 KY AGTR2 SLC6A3 VPS13B FRG1 PAK3 SMARCB1 CRLF1 CAMK2G FRMPD4 SMCHD1 DLG3 CHAT PEX10 PEX14 LARGE1 PPP2R2B DMD MT-TE HLA-DRB1 PYROXD1 SMARCE1 C12orf65 USP9X SYNJ1 SLC25A42 TGFB1 UBA1 BAG3 PUF60 ZNF81 HP_MANDIBULAR_PROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_PROGNATHIA SMS PIGY CSNK2B LRP4 SLC6A8 FOXG1 GPC3 KIF11 FGFR2 INSR HERC1 SETD2 MED13L MED25 HNF4A RAI1 CLIC2 NSD1 CACNA1G MSTO1 TBCK SLC6A17 GFPT1 PTCH1 SLC9A6 TXNL4A ERCC8 RAF1 TNFSF11 HNF1B TWIST2 COLQ TTN FGFR1 GJA1 GPR101 MYH8 P4HTM SFRP4 KDM5C TNNI2 AIMP2 BSCL2 GALNS KCNH1 PRKAR1A NRXN1 UBE3A MAN2B1 GPC4 PTCH2 NFIX AIP GLB1 TAZ RUSC2 FAM20C SUFU MYH7 APC2 SLC25A24 FLCN KDM6B LRP5 PTPN11 IQSEC2 PTDSS1 UPF3B DOCK3 PTEN FOS HS6ST2 IL1RAPL1 SOST OCRL SUZ12 AGPAT2 ATAD3A MAF KPTN PPARG CAVIN1 PIGV PYCR1 RPL10 CUL4B CDH11 ERCC6 MEN1 CLCN4 TONSL FOXP1 PAX3 LTBP3 CA2 ANKH APC DEAF1 RNF113A PDE4D OPHN1 CUL7 GORAB FMR1 AP4M1 TBC1D7 CHRNE SMAD4 GRIA3 EHMT1 PIGO GNAS DNMT3A PCGF2 PIGL ADAMTSL4 PQBP1 RNF125 GNPTAB HERC2 STAG2 IDUA ADAMTSL1 CXorf56 NHS EZH2 POC1A DYM FLII POGZ CNTNAP2 SH3PXD2B SELENON ACAN PIGW MYH3 CAV1 TGFB1 FBN1 AGA KCTD1 ATRX RUNX2 MAGEL2 IARS2 LAMB2 PGAP3 PMM2 RECQL4 TPRKB ANTXR1 PGAP2 RPS6KA3 AP1S2 PUF60 SOX18 HP_ABNORMALITY_OF_THE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHIN SNX14 SMS CCDC8 SHANK3 PIGY CSNK2B LRP4 CAMTA1 SLC6A8 LIMK1 NOTCH2 INSR KCNAB2 CHD1 ARID1B FOXG1 GPC3 KIF11 ELN PARS2 FGFR2 MYH3 HERC1 SETBP1 SETD2 MED13L PORCN PTEN MED25 HNF4A RAI1 PRDM16 CLIC2 NSD1 EDA COX7B CACNA1G YY1 KIFBP MSTO1 TBCK SLC6A17 PIEZO2 MEF2C GFPT1 PTCH1 SLC9A6 TXNL4A KANSL1 ERCC8 AP4E1 RAF1 ZNF148 SEMA3E TNFSF11 HNF1B TUBGCP4 TWIST2 COLQ TTN CHD7 FGFR1 GJA1 GPR101 MYH8 P4HTM FIG4 HRAS ERF ACTB PLK4 PRKDC SFRP4 TFAP2A KDM5C MTOR PDGFRB XRCC4 TNNI2 AIMP2 BSCL2 GALNS RERE KCNH1 PRKAR1A NRXN1 TAF1 UBE3A MAN2B1 GPC4 PTCH2 NFIX AIP GLB1 TAZ CHD8 CHRNG RUSC2 FAM20C SUFU SOX11 MYH7 UGDH APC2 SLC25A24 MBD5 FLCN KDM6B FGF3 MAPK1 CTU2 LRP5 PTPN11 IQSEC2 PTDSS1 SKI FLNA SPECC1L OBSL1 UPF3B DOCK3 HUWE1 BAZ1B DST ITCH FOS KCNJ6 AP1S2 HS6ST2 IL1RAPL1 SOST OCRL SUZ12 AGPAT2 TLK2 ATAD3A MAF GTF2IRD1 ACTG1 KPTN PPARG CAVIN1 PIGV PYCR1 COA6 RPL10 CUL4B RFC2 TRIO CDH11 ERCC6 MEN1 CLCN4 RNF13 GTF2I TONSL LMX1B MEIS2 FOXP1 PAX3 LTBP3 ZBTB24 CA2 ANKH APC ANKRD11 DEAF1 RNF113A PDE4D OPHN1 CUL7 CLIP2 CRKL POGZ GORAB FMR1 AP4M1 TBC1D7 PTF1A CHRNE TWIST1 BMPR1A SMAD4 GRIA3 EHMT1 CYP26C1 PIGO GNAS DNMT3A PCGF2 TBX22 PIGL ADAMTSL4 BCR PQBP1 STXBP1 RNF125 GNPTAB HERC2 STAG2 TMEM94 DNM1L IDUA NFIA PIK3R1 ADAMTSL1 CXorf56 EBF3 NHS EZH2 POC1A DYM FLII NALCN ZEB2 MAP3K7 MED12 TRPS1 CNTNAP2 CHAMP1 SH3PXD2B TUBGCP6 TBL2 ATP6V1E1 SELENON RECQL4 ACAN DHX37 PIGW CAV1 TGFB1 POLR3A MAN1B1 GABRD FBN1 VAC14 AGA CDK10 KCTD1 PIGS ABL1 ATRX RUNX2 EIF2S3 NSUN2 MAGEL2 IARS2 LAMB2 PGAP3 PMM2 TPRKB ANTXR1 PGAP2 THOC6 RPS6KA3 ALG13 PUF60 BRAF SOX18 HP_POINTED_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POINTED_CHIN SNX14 ZEB2 CCDC8 PORCN OBSL1 PDGFRB CDH11 MAP3K7 SHANK3 CAMTA1 LIMK1 RFC2 RERE NOTCH2 YY1 INSR KIF11 NRXN1 POGZ KCNAB2 CUL7 TAF1 CHD1 CNTNAP2 CHAMP1 GTF2I TUBGCP6 CHD8 CHRNG MEIS2 TBL2 ATP6V1E1 ELN DHX37 POLR3A UGDH ANKRD11 MAN1B1 GABRD CLIP2 ACTG1 CRKL SETBP1 SETD2 FGF3 MAPK1 CDK10 TBC1D7 PRDM16 NSD1 SKI FLNA NFIX ABL1 DOCK3 KIFBP CLCN4 HUWE1 BAZ1B BCR AP4E1 ZNF148 TUBGCP4 TMEM94 DNM1L GTF2IRD1 ACTB THOC6 HRAS PLK4 POC1A MYH3 HP_MICRORETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRORETROGNATHIA KAT6A RPL10 MYO9A RSPO2 CHST14 CEP120 NSDHL CHST3 TRIP4 SEMA5A B3GAT3 VAMP1 COL13A1 RTTN AGRN PAX1 OCLN SNAP25 EIF4A3 CHAT C2CD3 SELENON OFD1 MYH7 SLC18A3 SIN3A CANT1 SLC35A3 NAA10 SLC10A7 DSE GLI3 PIGN EBP TMEM70 NSMCE2 GMNN TAF1 SEC24D FBXL3 INTS1 PUF60 KIF7 CEP55 SF3B4 SLC5A7 CRIPT TELO2 CTNND2 SYT2 KPTN TTN ORC6 SLC25A1 SIM1 HP_ABNORMALITY_OF_THE_MIDFACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDFACE SNX14 KMT2D POLR1A CCDC47 CTBP1 PDGFRB SLC6A8 ELMO2 CLCN4 LRP1 B4GALT7 KIF7 AMMECR1 KCNAB2 RPS28 TCOF1 INPPL1 FGFR3 AFF4 ARID1B FGFR2 TCF4 RRAS2 SIX5 FLNB UBE3B CTSK SIX3 NXN CEP55 COL2A1 CPLX1 ATRX MED13L SIX1 MRPS14 NGF TCF12 RAB39B FGFRL1 BMP2 CHD7 PAX3 ARHGEF6 SH3BP2 GSC TBX1 GLI2 BANF1 HCCS RUNX2 CC2D2A FGFR1 BGN RHOA BPTF AEBP1 ATP7A GHR IREB2 KIF1A ROR2 WDR26 DCHS1 ARX COL11A2 POLR1D FIBP SPECC1L GATA4 IL1RAPL1 SHANK3 NECTIN1 HRAS SETBP1 RAI1 GNAS TFAP2A KCNH1 SMCHD1 SEMA3E MGP EYA1 RPGRIP1 CEP120 HSPA9 HDAC8 EDNRA LRP2 PEX1 MRAS MYSM1 ESCO2 AGL MECP2 PIK3CA POMGNT1 DVL1 FAM20C BRAF PQBP1 MEGF8 NFIX PITX2 SOX11 DHODH CEP290 LARS1 ARVCF RPS6KA3 COL11A1 MID2 COL9A2 H1-4 KDM6B KLHL7 MAPK1 B9D1 HBA1 PEX7 BRF1 LRPPRC IQSEC2 SKI RAB23 COG4 SLC35D1 TSEN54 CHD3 SEC24D TMEM67 CCDC8 B3GLCT NKX2-5 EXT2 TSPAN7 POLR1C ZFPM2 SALL4 IGF2 LRP5 OCRL PTCH1 HERC1 EBP GATA6 WNT5A MAF TUBB4A LTBP4 EDN1 USB1 LARP7 UFD1 SOS2 LETM1 SH3PXD2B PYCR1 EFEMP2 COL18A1 SH2B1 PSMD12 CDH11 NOTCH3 RAB3GAP1 GPC4 MOCS2 RNF13 TONSL PPP2R5D BICD2 ZNHIT3 FOXC1 NSDHL ACAN ALX3 NSD2 LMNA ANKRD11 EXTL3 DEAF1 CUL7 PDE4D GORAB COMT POR WDPCP MTOR DSE TWIST1 JMJD1C SMAD4 TCF20 GRIA3 ERF EFTUD2 MAFB PCGF2 ATP6V0A2 FLNA DNMT3B FGF3 AUTS2 HIRA BCR TGFBR2 STXBP1 PTH1R DVL3 PAX1 NEK9 STAG2 MN1 DDR2 CITED2 KIF22 ITCH PIK3R1 HBB ZNF41 SOS1 CSPP1 WDR35 IDUA EHMT1 TCTN2 TMCO1 GNAI3 GATA5 ZNF711 B3GAT3 ELN MED12 SLC25A24 STX16 WDR19 SPART SYP KCNQ1OT1 VPS13B SP7 RAF1 GDI1 MYH3 KIDINS220 RAB3GAP2 POLR3A SLC9A7 PYCR2 HECW2 FBN1 XYLT2 CDKN1C PPP1R15B SLC26A2 RFWD3 RPS26 PIGN PIGS COL5A2 BLM RIT1 CILK1 JAG1 TFAP2B MKS1 HDAC4 NGLY1 SEC24C KCNQ1 BMP4 ALX1 FAT4 TMEM107 PRKAR1A PRMT7 IFT122 NSMCE2 SON SMAD3 SATB2 TECPR2 GPC3 P4HB LIFR RSPRY1 KMT2E GPC6 GDF1 ACSL4 SC5D KAT6B CHD1 AIFM1 STRADA NF1 EIF2AK3 NTRK1 FTSJ1 A2ML1 ZBTB20 TGFB3 UPF3B GRIN1 COX7B SETD2 CLCF1 B3GALT6 SALL1 HCFC1 SLC29A3 PRDM16 FZD2 HSPG2 YY1 WASF1 GMNN IFT52 FBLN5 CXorf56 TXNL4A CTDP1 TSR2 INTS1 SCARF2 RREB1 LAS1L TMEM237 UBE2A GPR101 SHH CDK5 TMEM216 EIF2S3 ALG12 NALCN ACTB KAT6A TRMT10A NKAP DLX4 SEMA5A RERE COG1 PTRH2 MAP3K7 MAN2B1 ANK1 KRAS MLXIPL AIP TAT TAZ ALDH18A1 FLT4 PCLO PEX12 KCNJ2 CNKSR2 TMEM165 PIGA APC NRAS YME1L1 SLC2A10 OBSL1 MAP2K1 CHN1 NAA10 AMPD2 KMT2C WAC CCBE1 NDP CBL ZIC1 RPGRIP1L ASXL1 BCOR MOCS1 SF3B4 PKD2 TGFBR1 TBX4 IER3IP1 COL1A1 PLOD3 GP1BB RDH11 NONO ACTG1 SOST NKX2-6 LBR PTCHD1 VPS33A LOXL3 NOTCH2 DACT1 CRLF1 CHST3 MBD5 CCDC88A ATP6V1A PLCB4 COL9A3 KLLN PCNT GATA1 LMX1B LRP4 USP27X PIGT XRCC4 MAP2K2 RASA2 BCL11A KCNE5 KIF15 B9D2 RNU4ATAC IRX5 PSPH CRKL POGZ SEC23A IFT81 COL9A1 TP63 HOXB1 STAC3 PIGV CYP26C1 CDC42 TMEM260 ALG13 TBX22 AGTR2 RLIM ADAMTSL4 PUF60 COL5A1 PAK3 CTNND2 TBL1XR1 POLE POP1 SIM1 WASHC5 FLII FRMPD4 LZTR1 CCDC22 DPYD PTPN11 KIF11 HNRNPU POU1F1 DLG3 SERPINH1 CTCF DHX37 RBM8A DMD TGDS MAN1B1 GJA5 TUBGCP2 CANT1 GABRD ATP6V1E1 MITF LINS1 NBN TMEM231 RRAS IARS2 NDUFB11 USP9X BUB1B KDM6A SNRPB TBCE ANTXR1 WDR73 ZNF81 HBA2 OSGEP HP_ROUND_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_FACE PIGY NRAS GNAS HOXD13 AFF4 PTEN LMX1B DNMT3A MAPK8IP3 PAM16 LTBP3 FBN1 PPP1R15B ZBTB24 CC2D2A KIF15 ERGIC1 COL2A1 SLC10A7 MED13L COL6A2 ECEL1 B3GLCT HRAS ACTG2 CENPE ZBTB18 EZH2 PIGO ITGA3 ARMC5 COL11A2 SMC1A PIGL PLCB4 AKT1 STXBP1 DIS3L2 CDH23 LMNA CTNND2 PEX6 ANKRD11 BRPF1 PRKAR1A COL6A1 FIBP EIF2S3 CACNA1C NSD1 KMT2A SH3BP2 SIM1 RPGRIP1L TRMT10A COL11A1 FGD1 GNAI3 SEMA5A ALMS1 PEX2 P3H1 SEPTIN9 STX16 PDE4D TAZ COL6A3 EED SUZ12 PIGW DDRGK1 PHIP CHSY1 CANT1 KDM6B SPECC1L TMEM67 PDE11A HDAC4 XYLT1 IARS1 CRTAP NEXMIF ADAMTSL2 PGAP3 TECPR2 PEX1 TRAPPC9 PGAP2 USP8 PIGV HP_ABNORMALITY_OF_THE_ORBITAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ORBITAL_REGION TWIST1 CTBP1 PHF6 FRMD4A FRG1 AMMECR1 KCNAB2 ARX TCOF1 XPA HEPHL1 CD19 NF1 CLP1 UBE3B STIL MOGS TMEM138 RAG2 PKP1 NSD1 FGFR3 PUS7 SCN8A CACNA1G ARHGEF6 KMT2A ADAMTS18 SHOC2 HCCS SF3B4 GLA WDR35 COL11A2 CCR1 WWOX BGN PIEZO1 TTC7A PTCH1 BPTF B9D1 KCNK4 FGFR1 NECTIN1 CDK6 ICOS CEP57 ESS2 PIEZO2 GNAS KIT IFT43 TCTN2 MRAS SLX4 CST6 MITF CHRNG BCOR KMT2D BBS4 TREX1 AFF2 HGSNAT NFIX BUB3 DHODH ARL3 ATRX AKT3 ABCA12 FOXC2 H1-4 KDM6B KRT25 ANO3 TBR1 PEX7 BRF1 DDHD2 FBXO11 FAR1 RAI1 PHGDH KRT10 DOCK3 EDNRB MYH3 SLC25A11 SEC24D TOE1 MMP1 IGHM COL5A2 PHC1 SOX9 SALL4 GHR EBP EEF1A2 MAGEL2 ANKH UFD1 LETM1 KIAA0586 SNORD115-1 SH3PXD2B RAC1 TGM1 GPC1 KITLG FLT4 WIPF1 DLST LMBRD1 SLC9A6 RAF1 PPP2R5D DNMT3A TRAF3IP2 EP300 CLTC ALX3 IRF6 ANKRD11 DEAF1 SIN3A CUL7 PDE4D MMP2 HLA-DRB1 WAS FGFR2 IL23R SMAD4 ERCC3 NCAPD3 EFTUD2 DCHS1 UBA5 FOXP1 ITGA3 PEX5 PDHX ATP6V0A2 DNMT3B NANS SOS2 TTPA BTD ADAR BCR CEP41 GJC2 IQSEC2 IFIH1 SOX10 CRIPT STAG2 CREBBP OTUD6B MN1 CTSA PLG UGP2 DNAJC21 SMCHD1 PREPL PARS2 ATP6V1B2 HBB IGLL1 EZH2 NALCN AKT1 TMCO1 TERT NSD2 RAB18 FREM1 CHRNA7 PEX2 MAD2L2 ZMPSTE24 MED12 GRIP1 NBAS PPP2R1A CHAMP1 ALDH1A3 VPS13B DYNC2H1 PEX13 SMARCE1 DGCR2 KIAA1109 NAA10 HECW2 XYLT2 PBX1 HUWE1 PTEN APOA2 BRAT1 PIGN RPL10 RIT1 NIPAL4 TRAIP TUBB CDC45 XYLT1 TCF4 CLDN1 DSC3 MAPT FAT4 KIF21A PRKAR1A BCL11B TAPT1 NLRP3 ERCC4 QARS1 NR2F1 CWF19L1 PALB2 PDE6D ASAH1 SDHD CAMKMT ABCC9 DNM1 SOX4 XPC NSDHL ACSL4 RTTN SC5D SDHB CHD1 EIF2AK3 A2ML1 POLG MAPK8IP3 MCPH1 SMARCD1 TGFB3 NUP188 POLA1 RPS6KA3 CDK5RAP2 PIGL QRICH1 CD79B APOE AMER1 VHL CYP4F22 TUBB3 PRDM16 PLA2G6 FZD2 ADAMTS3 EDA PLOD1 FTSJ1 HLCS MANBA TBCK GMNN IFT52 ITGB4 CANT1 COLEC11 UROS KANK2 RREB1 TMEM237 GJB6 THAP1 PAH TUBGCP4 WASHC5 PITX2 ACTB GLI3 PEX19 TRMT10A NXN TNNI2 MKS1 APCDD1 DONSON NAGLU HELLS MAN2B1 WDR60 SMARCB1 RECQL4 PPP2R3C CNTNAP1 SLC25A24 CNKSR2 MBTPS2 LDLR AEBP1 CTNND1 RIPK4 LRP2 ADAT3 MAB21L2 FLNA ASPM EDN3 ASCL1 CYFIP2 CCBE1 DOCK7 WDPCP ATP7A TWIST2 EXOSC2 TBX4 UBR1 KCTD1 GP1BB RHOBTB2 REV3L POLH P4HB BBS12 MVK ERCC1 MAP11 RAD51 PTCHD1 CERT1 SLC16A2 TET3 ATN1 PEX11B PCNT PSMB9 SLC17A5 LIG4 IFT27 INPP5E WDR19 ALG3 SMC3 HRAS PIK3R2 MAP2K2 APC BCL11A ESCO2 WDR26 BRAF CRKL STAT4 BBS7 CDK13 COLEC10 HOXB1 GJB2 PIGO SNAP29 RPS23 TBX22 CENPJ RLIM RAD51C TRPS1 PAK3 TUBB4A CDC42 TMEM67 TBX1 TBL1XR1 CD96 HPCA SH3BP2 NECTIN4 DPH1 MPC1 OFD1 SETD5 COL11A1 LZTR1 CCDC22 IL2RG ALOX12B DSG4 KIF11 WNT5A TFAP2B MGAT2 PPP2CA CNTNAP2 PARN ASXL2 SLC6A17 FBN1 DHCR24 PIGW DMD PEX6 CDK10 COPB2 AHDC1 ITGA8 RNASEH2A NDUFB11 AHI1 RRAS ZSWIM6 IARS2 FAS KIF7 TP63 IFT172 CUL4B ANKLE2 BUB1B HSPG2 MAB21L1 WNT4 GPRASP2 ANTXR1 WNT10A KDM6A TBX3 B4GALT7 OSGEP SNX14 SMS PIGY TMEM231 LIMK1 LBR PRRX1 RPS28 PAFAH1B1 KIFBP CD79A AFF4 MAPRE2 CCNK SLC6A9 ELN CLCN1 LPAR6 ATR POLR1A GNAQ FGFRL1 IFT122 NRAS CHST3 SYNJ1 BTK KCTD17 CEP135 TRAK1 KANSL1 KNL1 AP4E1 TBX15 ROR2 HMGA2 POLR1D TRIP12 SPECC1L IL1RAPL1 GABRA2 RPL21 KDM5C MTOR SRCAP WDR4 TBCD MYMK B2M ZC4H2 PEX1 CTCF OTX2 FRAS1 PLAGL1 SKI MIR140 RPGRIP1L RERE UQCC2 CDH3 NDN MAPK1 MASP1 SPINK5 EXT1 CTU2 LRPPRC HNRNPH2 ABHD5 TBP FIBP CPLANE1 TSPAN7 KAT6A C2CD3 POLR1C VEGFC LEMD3 BMP1 TMEM216 ASXL3 LMNA HNRNPK ADAMTS2 PIGV CACNA1A PEX14 SEPTIN9 IL12A FLNB CDH11 ADAMTS10 GTPBP2 CC2D2A BBS10 ZNHIT3 LIPH ZBTB24 DSP BBS9 ITGA6 NLRP1 PNPLA1 NECAP1 FUCA1 G6PC LZTFL1 ERCC6 CDKL5 BRCA2 STXBP1 NELFA SYT1 CD151 NSUN2 FOXL2 TRRAP RAB11B PIK3R1 RYR1 BRCA1 PYCR1 CCDC115 DPM1 ZNF469 ZEB2 SNAI2 TOR1A KCNA2 TARS1 ZNF711 SASS6 ETFDH PNPLA6 SULT2B1 SON STX16 ALX4 COL5A1 TUBGCP6 ATP6V1E1 GDI1 RBPJ PIK3C2A RNASEH2C EFNB1 ERCC2 EFEMP2 BUB1 PSMB4 ARL6 RET RAX UMPS USP9X SOX5 HDAC4 PPM1B COL1A1 DOLK KRT74 PYCR2 DOCK6 COL7A1 SATB2 MFSD2A RAG1 LIFR RSPRY1 PPP1CB ARID1A DLG3 KAT6B ABCA5 NOP10 IFT80 TSPEAR LSS ACTL6B CDH1 KRAS COX7B SETD2 ABCA1 GNE SLC29A3 DDB2 ADAM17 CSPP1 CXorf56 MAFB AUTS2 SCARF2 TCTN3 ZNF148 HIBCH UBE2A SDHC SEMA3E FANCF NTRK2 CHD7 GPR101 EPS8L3 FERMT1 SPRED1 PHF8 RAB3GAP2 ERF CCND1 FANCG KCNH1 HDAC8 NIPBL GATA2 YY1 ASXL1 IL7R KIAA0556 SLC2A10 ANK1 AIP GJA1 RUSC2 FANCI TNFRSF1A PHOX2A TRAF7 APC2 EYA1 STARD7 EDAR PIGA AIFM1 SLC39A13 CAMK2A FGF3 PPP1R17 PTDSS1 FOXE3 AMPD2 ANO10 RTEL1 WAC CBL APOB RBMX ETFA MECP2 ALOXE3 SLC19A3 HERC2 ADAMTSL2 TSC2 FGF10 THOC6 RIC1 CEP290 ZNF423 DPF2 CENPE VPS33A NOTCH2 DACT1 MBD5 CCDC88A SMOC1 KLLN ENG PLXND1 LMX1B ALX1 LRP4 WDR62 USP27X PPP1R15B PAX3 PIGT SAMD9 KCNN3 RASA2 DHCR7 PSPH SLC26A2 IGBP1 RNF168 BMPR1A EHMT1 KIAA0753 KLF13 ACER3 TGM6 PQBP1 SLC3A1 FOXC1 KCNJ8 VAMP1 KDM1A TRAPPC9 TMEM127 EBF3 PACS1 DPYD PIK3CA PTPN11 CTDP1 PPP3CA FBXL4 TRIO WNT7A ERMARD SOX18 AP1S1 TGDS MAX VAC14 KIF1B FHL1 DRD5 USF3 CCNQ PUS1 BBIP1 NHP2 SLC35A2 NBN CWC27 CAMTA1 PEX3 PSAT1 IDUA TKT KPTN HR DKC1 RPL26 CIT ERLIN2 EED ALDOA GATA1 WDR73 ARID2 AP3B1 HBA2 WNT10B CLCN4 BLNK SGSH SLC13A5 ARID1B GPC3 EDA2R RRAS2 MEFV BRIP1 DDX11 SIX1 MED25 TYMP ATM SMO GSC BANF1 NCAPG2 DGCR8 TRIM32 ABAT ORC6 DYNC1I2 RNF113A SETBP1 SLC37A4 TFAP2A PDGFRB CHST14 CHRND GATAD2B EDNRA GALNT3 PEX10 NEK1 PTCH2 CACNA1B CERS3 DVL1 C12orf4 SUFU RAD21 C4A CASK GREB1L PURA FLCN EXOSC9 PSMB8 FANCA KLHL7 DGCR6 PEX12 DSE RAB23 VARS1 TCTN1 ARHGEF2 CHD3 TAF1 XRCC2 MPLKIP KRT71 PTPN22 TENT5A CDON HYMAI OCRL SUZ12 DCAF17 ARL13B ATAD3A TINF2 HSD17B4 DCLRE1C KCNB1 CEP104 GTF2IRD1 COG8 LARP7 TUBB2B FANCB GPKOW MLPH COL18A1 FANCM PLEC GPC4 XRCC4 C12orf57 SUMF1 ARMC9 SNRPN CLIP2 COG6 COMT RMRP GLIS3 ERAP1 FREM2 PCGF2 HIRA SNRPE RNF125 SRY CPLX1 TMEM94 SEC23B WDR34 ZNF41 SOS1 CARD14 KIF14 MDH2 GSN EDARADD HLA-B KCNK9 FGD1 PLK4 GATA4 ANAPC1 SYP TALDO1 RIN2 SLC9A7 STRA6 PWRN1 FGF12 PIBF1 IGF1R KDM5B CTC1 PMM2 ITGB6 POLR3A LIPN SDR9C7 CCDC8 RNU4ATAC KMT2E GPC6 SCN3A AMACR CEP152 SLC1A4 NGLY1 PEX16 ERCC5 PGAP3 HHAT PHOX2B B3GLCT HCFC1 MEF2C BBS5 WASF1 MALT1 KRT81 TXNL4A LAS1L BMP2 BCORL1 CHSY1 BCL10 SEMA5A TMEM107 COG1 MAP3K7 IFT57 GDNF KCNJ2 FANCD2 SCN9A SLC39A4 KRT14 ADA DVL3 CEP63 BAZ1B PTH1R CTLA4 HS6ST2 DYNC2LI1 TLK2 NONO ACTG1 KRT85 JAG1 ZIC1 ZIC2 SDCCAG8 SCN4A MAP2K1 YWHAE MPDZ MUSK KIF15 GNPTAB ATRIP IRX5 COL1A2 ZBTB20 ECEL1 FGF5 AIRE CDCA7 SLC52A2 TAF6 SMC1A ALG13 PLCD1 PACS2 PUF60 DIS3L2 BTNL2 SPART CTNND2 PGM3 TBC1D24 BBS1 ALG9 TNFRSF13B CD28 FLII CHRNA1 FRMPD4 SNORD116-1 EXT2 TSC1 ALDH6A1 SERPINH1 ATP6V1A RBBP8 HIC1 C8orf37 NPHP1 PHIP MAN1B1 GABRD SMARCA4 GABRA5 NOTCH3 JUP NFIB SNRPB HYLS1 AARS1 RPS19 ZNF81 EPHX2 GLE1 CCDC47 LRP1 BIRC3 FANCL FGF20 FOXG1 LTBP3 COG7 SIX5 IL12A-AS1 STAG1 SLC1A2 PWAR1 MED13L WRAP53 RAB39B MMP14 CP PCNA LRBA RHOA SOX11 KLRC4 KIF1A ACVRL1 TELO2 NOD2 DENND5A SHANK3 SMARCA2 HSPA9 FLI1 STRADA FAM20C LDHD SDHA MEGF8 FTL UNC80 MCTP2 ARVCF MID2 CKAP2L TFRC HBA1 SZT2 MED13 DHX30 TBX2 RNASEH2B UBE2T HERC1 MAF USB1 CCND2 RBM10 RFC2 PSMD12 GABRG2 ACOX1 MSMO1 BBS2 KCNMA1 KRT86 MYCN JMJD1C TCF20 GRIA3 ZBTB18 CEP120 TTI2 TNFRSF13C ASPH YWHAG CR2 B3GAT3 SIX2 MKKS CSNK2A1 PIGS DHDDS GBA SEC24C BMP4 HCN1 PRMT7 RB1 TNFRSF1B TPRKB SYNGAP1 PGAP2 MEIS2 SMARCC2 TTC8 PAX2 FANCE TRMT1 KRT17 SDHAF2 RFWD3 SHROOM4 TGFB2 UPF3B YARS2 NF2 GTF2H5 CHD4 LRRC8A IGSF3 GNS RRM2B TSR2 INTS1 FH ADNP SAMHD1 PEX26 NPAP1 TRIP13 CNOT1 FAM149B1 FIG4 KRT1 B9D2 GTF2E2 TTC37 DLX4 NRXN1 TAF13 MLXIPL CHD8 SALL1 CYP27A1 PCLO IKZF1 UGDH UBAC2 EGFR OBSL1 CHN1 KMT2C UBE3A SLC45A1 KCNJ6 FOXP2 FBXO31 SHPK AP3B2 PLOD3 TLR4 RDH11 NUS1 PANK2 MATR3 ETFB GRIN2D LPL GTF2I MID1 GDF2 BMPER ATP13A2 DNASE1L3 KCNE5 KRT83 IL10 METTL5 ST14 NPM1 KREMEN1 STAC3 TBX6 ARV1 TENM3 AGTR2 DUX4 MKRN3 BRPF1 CLTCL1 TERC ORC1 CAMK2G SIM1 LONP1 PHF21A HNRNPU PARK7 PAX1 APTX FANCC GABRB2 TBL2 RNF135 AHSG TUBGCP2 SETX TCF3 AP1B1 DYNC1H1 HOXC13 SPATA5 GUSB COL3A1 HP_HYPERTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTELORISM TWIST1 CTBP1 INSR NEB KIF7 BLNK LRP4 WDPCP PTEN SOX9 GPC3 KISS1 RRAS2 CC2D2A FGFR2 BRIP1 KRAS ATRX MED25 COL2A1 CBL TCF12 SPRY4 TACR3 TTC37 SALL4 NSD1 FGFR3 KCNH1 FGF17 CHD7 COLEC10 COX7B CACNA1G KMT2A SHOC2 COL11A2 BGN PTCH1 BPTF NUP133 SEC23A RAF1 SRD5A3 FGFR1 GJA1 FAM111A VSX1 OGT ZMYND11 HRAS RNF113A SETBP1 RAI1 TFAP2A SEMA3E CHST14 CHRND RPGRIP1 CEP120 GATAD2B RMRP MRAS SLX4 ESCO2 NUP107 PTCH2 SUFU GNRHR CHRNG DVL1 INPPL1 WDR11 BRAF CEP290 CASK GREB1L FLCN TPM2 EXOSC9 COL11A1 AKT3 FANCA KLHL7 TBR1 DSE FBXO11 PHGDH CHD3 TAF1 SEC24D XRCC2 TMEM67 OFD1 DICER1 SUZ12 EBP PIK3R2 ACTL6B WNT5A HSD17B4 ANKH LTBP4 UFD1 LETM1 FANCB SH3PXD2B MYH3 HACE1 TBCE SH2B1 SMARCD1 FANCM TRIO NKX2-5 ACTA1 GPC4 ZMPSTE24 TONSL DPF2 C12orf57 ALX3 ALG13 DEAF1 MAP2K2 SIN3A PDE4D COMT POR DOK7 FANCL ERF ERCC3 DCHS1 ITGA3 PEX5 PDHX ATP6V0A2 DNMT3B SOS2 PPP2R5D HIRA TGFBR2 AKT1 FBN1 PTDSS1 CPLX1 TGFBR1 TMEM94 MN1 LMBR1 DNAJC21 DUSP6 RPL35A IGLL1 SOS1 EZH2 NALCN TMCO1 NSD2 MKS1 CHRNA7 PEX2 MAD2L2 MED12 FGD1 NBAS PPP2R1A SPART PACS1 PIK3R1 KIAA1109 XYLT2 AGA PIGN RIT1 TNFRSF11A ALX1 PEPD FAT4 NSMF KIAA0556 PRKAR1A BCL11B TAPT1 FREM1 ALG8 PMM2 RET SMAD3 POLR3A PALB2 KISS1R PDE6D RNU4ATAC DHCR7 SNAP29 MASP1 TUBB SLC1A4 STRADA TCTN3 EIF2AK3 RECQL4 PPP1CB A2ML1 MAPK8IP3 TGFB3 RPS6KA3 BRCA1 PGAP3 PIGL QRICH1 CPLANE1 AMER1 B3GLCT FZD2 ADAMTS3 MEF2C COLEC11 TXNL4A RREB1 TWIST2 TMEM237 UBE3B LRP5 LBR WASHC5 TMEM216 RSPRY1 BCORL1 PITX2 CHSY1 TRIM37 ACTB GLI3 CDH1 ALG9 NXN ACTA2 SLC12A6 SEMA5A COG1 FBLN5 NFASC SMAD4 MAP3K7 HELLS RPS7 PRKG1 ADGRG6 EED PSMD12 KCNJ2 ANOS1 FANCD2 NF1 ZIC3 CTNND1 RIPK4 LRP2 DVL3 FLNA IL11RA EXTL3 CENPF CCBE1 GK PIGO TBX4 GP1BB NONO ACTG1 RAD51 JAG1 ADAT3 LIG4 ZIC2 MAP2K1 EXT2 MFAP5 EPG5 APC MUSK TPM3 KIF15 LOX CHST3 IRX5 COL1A2 CDK13 CDCA7 PIGV TCOF1 DPH1 SMC1A FH NFIX RLIM GBA RAD51C PACS2 SLC25A24 CTNND2 CDC42 ALG1 ERCC2 NKX3-2 TBX1 TBL1XR1 TBC1D24 POC1A FLII RPGRIP1L CHRNA1 LZTR1 CCDC22 MYOD1 PRPS1 TFAP2B PPP2CA ALDH6A1 ASXL2 ATP6V1A ACY1 CTCF DHX37 PIGW PHIP MAN1B1 ADK TBCD PEX6 CDK10 ATP6V1E1 CSPP1 AHDC1 ITGA8 GNRH1 NOTCH3 RRAS ZSWIM6 MAT2A CENPJ ANKRD11 BUB1B SETD2 PIGG RPS19 ABCC9 LAGE3 ANTXR1 PHACTR1 OSGEP SMS PIGY CCDC47 TMEM231 MPLKIP B4GALT7 PAFAH1B1 FGF20 CD79A DDX59 CCNK ARID1B CEP55 MED13L MRPS14 POLR1A ATP6V1B2 FGFRL1 BMP2 PAX3 NRAS WDR4 IFT43 RUNX2 PPP3CA TBX15 PIEZO2 TELO2 ROR2 HMGA2 POLR1D TRIP12 FIBP SPECC1L MMP2 MTOR FLI1 MAN2B1 FRAS1 FAM20C MEGF8 SKI MIR140 MCTP2 ARVCF KIAA0586 RERE B9D1 SMCHD1 CTU2 HBA1 LRPPRC PTPN11 IQSEC2 HNRNPH2 SLC18A3 MED13 TBX2 IL1RAPL1 STAMBP LEMD3 COL27A1 UBE2T HERC1 BNC2 ASXL3 MAF LMNA PEX1 HS6ST1 USB1 SOST MYH11 CCND2 RBM10 ERCC4 FLNB CDH11 FAR1 MOCS2 FOXC1 FOXP1 ZBTB24 SPINT2 PROKR2 ACOX1 ELN KCNMA1 FUCA1 SKIV2L GLB1 JMJD1C ZBTB18 RPL5 CNTN1 AUTS2 BRCA2 NELFA NSUN2 POLR1C TRRAP DDR2 RYR1 EMC1 PYCR1 WDR35 DPM1 ZEB2 EHMT1 TCTN2 TARS1 B3GAT3 SIX2 ALX4 CSNK2A1 EFNB1 EFEMP2 MYLK UMPS INTU NGLY1 SEC24C COL1A1 FGF8 PYCR2 TMEM107 DOCK6 PRMT7 RB1 TPRKB PGAP2 NUP88 FANCE SHANK3 TRIP4 YWHAE SMO RFWD3 PSAT1 TGFB2 PARS2 SMG9 IGHM TTC7A GNE GTF2H5 CHD4 LRRC8A KIFBP HSPG2 KLHL41 INTS1 PROK2 FANCF TP53RK SLC26A2 SPRED1 FIG4 GTF2E2 ALDH18A1 AP4S1 FANCG DLX4 HDAC8 ASXL1 STAT3 PTRH2 SLC2A10 RSRC1 ANK1 KIAA0753 CHD8 RUSC2 FREM2 FANCI APC2 PIGA AIFM1 CAMK2A FGF3 UBE2A WAC SLC45A1 MOCS1 FGF10 TRAPPC9 SHROOM4 GPAA1 RAPSN NOTCH2 PEX3 FAM149B1 MID1 BMPER TAC3 KCNN3 RASA2 KBTBD13 THOC2 B9D2 POGZ KREMEN1 BMPR1A SLC29A3 DNMT3A KLF13 MYPN TENM3 THRA GRIP1 BRPF1 KDM1A AFF4 WDR73 CD79B KAT6B ZIC1 EBF3 ABCD4 SIM1 NKX2-6 AVP PIK3CA SET HNRNPU MARS2 FANCC MAPRE2 SIK3 ERMARD TGDS VAC14 TCF3 PTH1R TCIRG1 KNL1 GATA6 CAMTA1 GLE1 FOXE3 COL3A1 HBA2 CIT HP_FACIAL_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_MYOKYMIA SPTBN2 PPP2R2B ADCY5 ATP13A2 PRKCG HP_SMOOTH_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMOOTH_PHILTRUM SMS RPL10 IGF1R CERT1 NALCN CSNK2B ATP6V1A PTPRF GNE RTTN NOTCH3 FAR1 COL3A1 STAG2 SYT1 MID1 FOXG1 MEIS2 COG7 FLNA ADSL SMC3 TGFB3 SUMF1 UBE3B MED12 SRCAP ANKRD11 KIF15 SIN3A UNC80 IRX5 CRKL QRICH1 MTOR SEC23A SMC1A CLIC2 PUS7 HOXB1 ZBTB18 TBX1 PLAA CDC42 DYRK1A ACER3 ATP6V0A2 SMARCA2 BCR PUF60 DIS3L2 SETD5 TRPS1 ZNF148 ADNP KCNK4 TMEM94 TRRAP TRAPPC9 IFIH1 ORC4 TBL1XR1 CXorf56 ALG9 FBN1 WDR35 DPM1 KDM5C PAX3 PACS1 PIK3CA CTNNB1 ZC4H2 COG1 HNRNPU FLI1 SLC25A24 WDR19 NUP107 PPP2R3C PRDX1 AP3D1 UGDH PYCR2 MAN1B1 MMACHC FLCN TUBGCP2 RERE MAPK1 CDK10 PIGN ATP6V1E1 RAI1 USP9X MED13 SPECC1L CCBE1 NSUN2 SLC45A1 KIF7 ADAMTSL2 MAF MAB21L1 RHOBTB2 SON SATB2 THOC6 RAD21 AP3B1 CD96 HP_BIRD_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRD_LIKE_FACIES LIG4 ZMPSTE24 ERCC3 TARS1 MPLKIP LMNA NHEJ1 ERCC2 WNT10A GTF2E2 GTF2H5 RNF113A XRCC4 HP_SQUARE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARE_FACE LIFR SEMA3E ADAMTSL1 KDM5B CHD7 IFT57 PUF60 HP_SHORT_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHILTRUM SMS NALCN PIGY CTBP1 RAB3GAP1 SMARCC2 STAG2 KIFBP ARID1B TCF4 MAPK8IP3 SMARCD1 UBE3B UPF3B PARS2 FOXH1 PIGL RAB3GAP2 CDON EMC1 MED25 RAI1 FGFRL1 FZD2 MEF2C PUS7 MED12 NFIX SOX11 AUTS2 TXNL4A RUNX2 BPTF RREB1 AP4E1 KCNK9 IREB2 TMEM237 AP4M1 ROR2 KCNK4 HDAC6 ALG12 FIG4 DENND5A SETBP1 ZIC2 TRMT10A PTCH1 NXN SRCAP AP4S1 NKAP GATAD2B CKAP2L IFT57 SIX3 TAB2 GAS1 TMEM70 SMARCB1 LETM1 UNC80 MCTP2 ARVCF DISP1 APC TGIF1 TBR1 IQSEC2 RAB18 HNRNPH2 BCL11B TWIST2 TBC1D20 SMARCA4 DOCK7 KCNJ6 FGF8 FREM1 ZDHHC9 NEXMIF ALX4 LARP7 GP1BB NONO UFD1 TDGF1 ERCC1 PIGV DPF2 AP4B1 PSMD12 COL3A1 TWIST1 MEIS2 LRP4 PPP1R15B NSD2 DVL1 DEAF1 PDE4D OPHN1 POGZ COMT SHH CDK13 JMJD1C GRIA3 PIGO CDC42 HIRA ADAMTS3 PQBP1 VPS13B NELFA DVL3 KDF1 TBX1 CPLX1 GLI2 TRRAP BRPF1 TRAPPC9 ADAMTSL1 WDR4 FLII CDH11 MAP3K7 SLC35A1 PHF21A SOX4 WNT5A SON TFAP2B EXT2 PPP2CA SMARCE1 CHAMP1 SH3PXD2B CTCF ARID1A NODAL TALDO1 DHX37 PIGW TCTN3 POLR3A PHIP MAN1B1 CCBE1 VAC14 HUWE1 AP1S2 NOG ARID2 SEC24C CCDC22 NSUN2 SUFU KIF7 SMAD4 CUL4B DLL1 PGAP3 WNT4 FAT4 ERLIN2 PGAP2 PITX2 FGFR1 HP_FACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ASYMMETRY SMS TWIST1 FANCE PORCN SEPTIN9 CTBP1 LRP4 DACT1 FANCM PLCB4 ERCC4 CDH11 ADAT3 FANCL CHST14 MACF1 FGFR3 SMO PTEN ZIC1 NTRK2 RFWD3 KRAS PPP2R5D GDF6 SMC3 OFD1 NSD2 ANOS1 GDF5 SIN3A FGF9 BRIP1 FGFR2 ERGIC1 CRKL ATR SIX1 SALL4 MYCN FGFRL1 NFIX CHD7 IGF2 YY1 MAFB PIEZO2 SMC1A PIK3CA TCF12 RHOA BCR RAD51C PUF60 BRCA2 AKT1 GDF3 SEMA3E PAX1 FANCF HRAS CPLX1 ELMO2 BRCA1 CLTCL1 ERF KMT2A EYA1 C12orf57 FANCG SLC12A6 SET EDNRA MAD2L2 SLX4 SON FLI1 FANCC NBAS PPP2R1A ELOVL4 TRIO CHRNG NRAS H19 SALL1 SP7 PSMD12 FANCI DHX37 KCNJ2 GNAI3 FANCD2 EFNB1 MEOX1 FANCA CTNND1 MAPK1 SATB2 PIGN MYH8 KCNQ1OT1 CHN1 USP9X SIX5 SOX5 GNAS XRCC2 NOG BMP4 UBE2T PKD2 COL1A1 MAF EDN1 PALB2 LETM1 FANCB FLNA MYH3 RAD51 HP_TRIANGULAR_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_FACE CCDC8 NALCN JAG1 CEP57 KCNJ1 PSMD12 NOTCH2 STAG2 PEX19 RAF1 SPRTN PPP2R5D A2ML1 PQBP1 MAP2K1 RRAS2 RASA2 SRCAP ANKRD11 PTPN11 UNC80 PLOD2 HERC1 CUL7 MED13L COL1A1 CBL ARX PTF1A MYCN ALDH18A1 TRMT5 PIEZO2 FKBP10 MAFB SMARCA2 BPTF GBA ZNF148 KRAS COL5A1 MED12 HMGA2 BRAF TMEM94 TRIP13 ORC6 SPRED1 PIK3R1 IGF2 EBF3 BUB1B SOS1 TRIM37 NECTIN1 PYCR1 POC1A OBSL1 LZTR1 XRCC4 TNNI2 TRPS1 MRAS SLC25A24 PEX13 MVK ADGRG6 SERPINH1 ATP6V1A ATP6V1E1 TALDO1 MCTP2 KCNJ2 BUB3 POLR3A PYCR2 FLCN RERE BUB1 AGPAT2 NRAS HUWE1 FANCI CDK10 COL5A2 RIT1 RAI1 COL1A2 MYH3 SEC24D TNNT3 BSCL2 IFITM5 IGF1R SLC45A1 AP1S2 HS6ST2 RRAS EIF2AK3 TBX2 LEMD3 DCAF17 BMP1 NONO CDC6 PEX14 LARP7 SOS2 HP_ABNORMALITY_OF_THE_MAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MAXILLA TWIST1 POLR1A NRAS EFTUD2 PDGFRB WNT10A EDA CDH11 GPC4 ADAMTS10 NOP10 KIFBP TP63 TWIST2 FGFR2 EDARADD LTBP3 EP300 PAX3 ALX3 PTEN RPS6KA3 UPF3B PDE4D WDR26 FGFR3 GORAB NPM1 ZBTB20 FGFR1 B3GLCT WRAP53 HRAS PAX9 GMNN FLNB BMP2 GJA1 SMAD4 ERF ORC6 TCOF1 MED12 DCHS1 SF3B4 SOX5 MAFB COLEC11 AKT1 ERLIN2 FGF3 RUNX2 SCARF2 SEC23A VPS13B COL11A1 SLC25A24 GLI2 FOXC1 CREBBP ORC4 POLR1C POLR1D IFIH1 PITX2 TMCO1 RAB3GAP2 TERC ORC1 MMP2 KDM5C FGD1 TERT SLC12A6 ZBTB11 EDNRA UBE3A COL5A1 PARN FAT4 CDT1 UBB AXIN2 FBN1 SKI KCNJ2 COL2A1 TGFA NFIX MSX1 BMP4 CDC45 CHSY1 PRKAR1A CDC6 TUBGCP2 CDH1 EFEMP2 RIPK4 BGN ABL1 RAB23 IL11RA SUMO1 NECTIN1 NHP2 RTEL1 PIK3CA LRP6 ALX1 PYCR2 STAMBP DLX4 GRHL3 PTCH1 USB1 SMOC1 ZDHHC9 TINF2 CTC1 IRF6 SON DKC1 WNT10B DLG1 LBR ARHGAP29 HP_FACIAL_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HEMANGIOMA SETBP1 STAC3 CCDC22 DHCR7 GNA14 ESCO2 ASXL1 GLI3 MGAT2 GNAQ SLC26A2 RECQL4 CD96 OFD1 WASHC5 HP_SHORT_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CHIN PTF1A PIGS MTOR FLNA SHANK3 EDA ABL1 XRCC4 BMPR1A COX7B CYP26C1 TRIO DST MEF2C ITCH MED12 NSUN2 AP1S2 ARID1B RNF13 MAN1B1 RECQL4 ZBTB24 SOX11 PARS2 MBD5 NFIA VAC14 EBF3 FIG4 PTEN ALG13 CDK10 PRKDC COA6 HP_PROMINENT_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPRAORBITAL_RIDGES PDGFRB MAP3K7 SHANK3 BSCL2 PHF6 FGFR1 HDAC8 FREM1 TAF1 FLNA CHD8 LAS1L SP7 CAV1 ERCC4 PIK3R1 OPHN1 GRIA3 ABCC9 FHL1 PTH1R SEC23A EDA FOS RBMX ZSWIM6 SUZ12 ARX UBE2A FBXO31 AGPAT2 KCNJ8 PPARG CAVIN1 PHF8 RPS6KA3 PITX2 HP_BROAD_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOREHEAD PPM1D RIPPLY2 CCDC8 JAG1 NRAS SH2B1 NKX2-5 SLC6A8 MBD5 TET3 GDF1 LIMK1 PEX3 ZFPM2 RFC2 TBX1 NOTCH2 CDH11 GPC4 CHST14 ZIC2 RBM8A GTF2I CCNQ AMMECR1 HES7 LFNG ELN DEAF1 THOC2 GATAD2B FGFR2 KRAS CHST3 CLIP2 PSPH MED13L ZBTB20 RAI1 TBC1D7 HRAS COL2A1 TCF12 ACTG2 TTC37 SKIV2L FUT8 MEF2C GATA6 EZH2 ALDH18A1 YY1 TBCK CDKL5 GATA4 COLEC11 PCGF2 FLNA RLIM KANSL1 ADAMTS3 PTDSS1 LRP5 BMP2 WASHC5 MESP2 BRPF1 GPR101 NFIA CITED2 IFIH1 TCTN2 DLL3 POLE ZIC1 NSD1 PYCR1 SETBP1 FLII FGFR3 FGD1 PIK3CA GATA5 CKAP2L CUL7 TFAP2B SLC25A24 MAN2B1 PPP2CA AIP TAB2 SH3PXD2B TAZ RECQL4 TBL2 FLT4 RNF135 EED SUZ12 UNC80 KCNJ2 POLR3A PIGN PAK1 FLCN GJA5 CCBE1 LRP2 HBA1 RPL10 IQSEC2 ABL1 OBSL1 BAZ1B RUNX2 WAC CAMTA1 CCDC22 TENT5A KIF7 TWIST1 BMP1 ACTL6B PTEN FGF10 GTF2IRD1 DNMT3A FAT4 ANTXR1 CASK THOC6 NKX2-6 HBA2 HP_HYPOMIMIC_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMIMIC_FACE ATP6AP2 PLA2G6 SLC18A2 DNAJC13 TWNK POLG2 PLAA SNCA KCNK9 GBA VPS35 FBXO7 PODXL TXNL4A SLC6A3 LRRK2 EIF4G1 JAM2 DNAJC6 SYNJ1 FTL ATP1A3 GIGYF2 ATP13A2 CC2D1A TECPR2 SLC25A4 SLC30A10 SPR RRM2B SLC39A14 POLG HP_SLOPING_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOPING_FOREHEAD FANCE ASNS RBM10 CEP57 FANCM CTSD CCDC88A PHGDH ERCC4 DMXL2 NHEJ1 RTTN CDK6 PCNT SC5D KAT6B STXBP1 ADAT3 STAG2 FANCL LIG4 RFWD3 WDR62 PSAT1 MCPH1 SETBP1 KIF11 STIL COASY CDK5RAP2 KIF14 PARS2 BRIP1 DDX11 ZNF335 CEP55 B9D2 PYCR2 METTL5 RNU4ATAC ATR WDPCP KIF7 PLK4 PIGP CENPE KIFBP NCAPD3 DYM TBCK CC2D2A TTI2 ERCC6 NFIX CEP135 ACER3 RAD51C KNL1 BRCA2 CENPJ FANCF NSUN2 VIPAS39 PAH TUBGCP4 TRIP13 GNAO1 SCN2A CNOT1 UGP2 TMEM216 PHF8 EIF2S3 BRCA1 BUB1B DYNC1I2 ATRX SLC25A22 CSPP1 CASK CEP152 MGP TCTN2 PIGQ XRCC4 RPGRIP1 TUBGCP6 FANCG PNKP SASS6 MKS1 TSEN2 MAD2L2 SLX4 TAF13 FANCC OCLN NUP107 SUFU SIK1 C2CD3 MFSD2A FANCI KCNA1 BUB3 RELN CEP290 CPT2 FANCD2 EMG1 CDKL5 TUBGCP2 FANCA PRUNE1 BUB1 B9D1 NCAPH COPB2 COG4 GLI3 VARS1 ASPM CEP63 TSEN54 VPS33B RUNX2 XRCC2 NBN TMEM67 TMEM231 NEUROD2 ANKLE2 SLC25A19 RPGRIP1L TRIM8 PHC1 STAMBP TMEM107 UBE2T QARS1 ARX LTBP4 NDE1 ABCC9 SCN1B PALB2 KATNB1 CIT FANCB WDR73 MAP11 GPKOW OSGEP NCAPD2 RAD51 HP_NARROW_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FOREHEAD PIGY CCDC47 GPT2 SMARCD1 CCDC88A ATN1 CDH11 FRMD4A SC5D GTPBP2 AFF4 RNF13 ZIC2 MEIS2 TCF4 COG7 NUP188 PPP1R15B PIGT ATRX DHCR7 SMG9 SNRPN PWAR1 BRAF ADAM22 PSPH ZNHIT3 MED13L AMER1 AP4M1 SMC1A AP4S1 FUT8 PUF60 CDC42 SLC25A46 DYRK1A AP4B1 LGI4 PPP2R5D CDKL5 TBCK AP4E1 KCNK9 IFT140 LAGE3 BMP2 KCNK4 NPAP1 MN1 MKRN3 DCHS1 UGP2 TMCO1 RYR1 RARS2 SETBP1 WDR35 CAMK2G KAT6A TRMT10A SLC12A6 SNORD116-1 DOCK7 ELN ASXL1 GPAA1 NBAS MLXIPL RBBP8 NUP107 SERPINH1 CTCF MAP2K2 PPP2R3C PIGN PYCR2 TUBGCP2 PWRN1 TRAPPC4 NDN LIG4 CTU2 NAA10 USP9X ASPM AMPD2 MAGEL2 GNPTAB NUP133 FAT4 HERC2 QARS1 NEXMIF IER3IP1 SON TRAPPC9 PUM1 SNORD115-1 SLC16A2 OSGEP HP_LONG_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PHILTRUM SNX14 CAMTA1 LIMK1 CLCN4 NEK9 KCNAB2 AFF4 MAPRE2 KCNJ11 CCNK LTBP3 KIF11 ELN NEB ARID1B MED12 NXN MYH3 CLTC CPLX1 ADSL CBL RAB39B CHRNG BMP2 GJA1 COX7B ARHGEF6 KMT2A CHST3 SLC6A17 WDR35 SEC23A PIEZO2 ROR2 FGFR1 ARX TRIP12 SPECC1L IL1RAPL1 B3GALT6 SMARCA2 MTOR KCNH1 FGD1 CHST14 KIT ZC4H2 FLI1 CTCF OCLN BCOR DVL1 INPPL1 BRAF MIR140 RAD21 COL2A1 PIGN CASK ARVCF SLC26A2 RPS6KA3 COL11A1 MID2 TRIP11 COG1 GCK DSE EXT1 BRF1 FBXO11 SKI FAR1 RAI1 ARHGEF2 TAF1 ABCC8 B3GLCT TSPAN7 NTNG1 GNPTAB CRTAP OCRL BMP1 WNT5A MAF HSD17B4 LTBP4 SMC1A GTF2IRD1 UFD1 RPL10 RFC2 TRIO CDH11 ACTA1 METTL23 MOCS2 PPP2R5D FGFR2 MEIS2 C12orf57 LFNG ANKRD11 EXTL3 SIN3A CUL7 CLIP2 COMT JMJD1C GLIS3 PEX26 TMEM70 PLAA ERCC6 ATP6V0A2 FGF3 HIRA IQSEC2 DVL3 OTUD6B UGP2 WDR34 ZNF41 ATP7A EZH2 NALCN TBC1D24 ZNF711 TRPS1 FZD2 SLC25A24 NBAS SYP RNU4ATAC ATP6V1E1 GDI1 DYNC2H1 SETD5 SLC9A7 PYCR2 TBX1 XYLT2 HUWE1 SATB2 BRAT1 PIGT USP9X TUBB XYLT1 SEC24C EIF2S3 IGF1R PDHA1 BCL11B ALG8 PRMT7 PMM2 CDC6 HDAC8 ABCC9 RIPPLY2 CCDC8 SHANK3 DHCR7 GPC6 MYO18B SC5D STAG2 IFT80 MYMK FTSJ1 MAPK8IP3 SNAI2 HES7 ALG11 UPF3B YARS2 CLCF1 NIPBL GNE HRAS HCFC1 PRDM16 PUF60 HSPG2 TBCK PUS1 CXorf56 INTS1 RREB1 EXOC6B PAH COL11A2 MESP2 CNOT1 SMC3 ACTB PRKDC FBN1 ALG9 TRMT10A CTNNB1 TNNI2 TTC37 TBCE RERE NRXN1 MAP3K7 SLC2A10 KRAS MLXIPL CDKL5 WDR60 MECP2 PPP2R3C PCLO POR GABBR2 CNKSR2 OBSL1 MAP2K1 BAZ1B UBA1 PTH1R MOCS1 EXOSC2 SMOC1 ADAMTSL2 PLOD3 GP1BB ACTG1 RIC1 ADNP PTCHD1 ACSL4 NOTCH2 NRAS CRLF1 TET3 ATP6V1A ATN1 NLRP1 GTF2I EXT2 PTEN USP27X PPP1R15B MAP2K2 STXBP1 APC MUSK PDE4D IRX5 INS IFT81 PTCH1 CDC42 TAF6 ALG13 RIN2 TENM3 AGTR2 PAK3 KCNJ8 BRPF1 DLL3 KAT6B NSD1 MPC1 CAMK2G PDX1 FRMPD4 AVP MARS2 DLG3 CNTNAP2 ALDH6A1 TBL2 RNF135 SUZ12 DMD PHIP GABRD TRAPPC4 CDK10 NOTCH3 IARS2 KIF7 BUB1B NFIB TPM3 MAB21L1 SNRPB KLHL41 ANTXR1 EED ZNF81 AP3B1 CD96 HP_HIGH_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FOREHEAD STIM1 TWIST1 DNM1 CTBP1 LIMK1 YWHAE SCN3A PAFAH1B1 SLC13A5 PEX16 RBM8A ACTL6B A2ML1 FGFR2 SETBP1 RRAS2 ALG11 ELN CNKSR2 UPF3B CTSK NXN SLC1A2 ATP6V1A SETD2 MED25 FGFRL1 BPNT2 MEF2C COX7B SCN8A TBX1 NRAS SYNJ1 MED12 GMNN IFT52 PEX1 WWOX PEX5 TRAK1 ORAI1 KANSL1 PEX13 TMEM237 PEX10 PEX11B PEX6 NTRK2 PEX26 LRP5 TRIP13 GJA1 WASHC5 BCORL1 FIG4 GABRA2 GLI3 KMT2A CDH1 PEX19 XRCC4 TBCE MRAS PEX12 FLI1 CTCF NFIX KRAS CACNA1B PIK3CA STRADA LETM1 BRAF SKI UNC80 BUB3 APC2 MMACHC AKT3 TRPV4 GNPAT CTNND1 HBA1 UBE2A ADAT3 FBXO11 PEX2 SZT2 MAP2K1 BAZ1B CYFIP2 CBL AP1S2 GNPTAB ETFA SOX9 NPHP3 ATP7A EXOSC2 PIK3R2 ZDHHC9 SHPK ATAD3A MAF HSD17B4 ACTB AP3B2 EEF1A2 KCNB1 THOC6 GTF2IRD1 SOS2 STXBP1 NUS1 CACNA1A LBR CCND2 PEX14 CUL4B FGFR1 ATP6V1B2 CEP57 TET3 PEX3 RFC2 ATN1 ETFB GABRG2 GRIN2D SYT1 TP63 ZIC1 GTF2I CENPJ EXT2 CLTC PIGT ERF NSD2 MAP2K2 RASA2 FRMPD4 APC ANKRD11 THOC2 SIN3A RNF113A IGBP1 FGFR3 CLIP2 NECAP1 MTOR TCF20 AARS1 UBA5 ARV1 SMC1A GHR CDKL5 DIS3L2 NELFA YWHAG CRIPT CPLX1 DVL1 PARS2 TBL1XR1 EBF3 BUB1B SOS1 WDR4 WDR35 CAMK2G CDH11 LZTR1 PTPN11 KCNA2 TRIO ETFDH SIX2 HNRNPU SMAD3 PPP3CA GABRB2 GATA4 SH3PXD2B ALDH6A1 SERPINH1 TBL2 HIC1 RAF1 PRDX1 AP1S1 CPT2 PHIP NSD1 VAC14 BUB1 HUWE1 ARX SATB2 FGF12 RIT1 DHDDS FBN1 GABRA5 BMP4 RRAS EIF2AK3 HCN1 NFIB SYNGAP1 ANTXR1 ARID2 HBA2 HP_WIDOW_S_PEAK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDOW_S_PEAK SYT1 EFNB1 SPECC1L ALX3 SLC35C1 ATP6V1B2 FGD1 RERE TWIST1 MID1 ALX1 LRP2 HP_SMALL_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOREHEAD SNX14 TFAP2A KDM5C IFT57 PIGN HP_ABNORMALITY_OF_THE_OUTER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OUTER_EAR GNB1 TWIST1 KMT2D POLR1A CTBP1 CAMTA1 SLC6A8 PHF6 KCNJ1 INSR FRMD4A BLNK KCNAB2 POMT1 TCOF1 ARID1B PTEN RAB3GAP1 SOX9 TCF4 GPC3 RRAS2 UPF3B NEB BRIP1 DDX11 KRAS CLTC ADSL SETBP1 SIX1 TMEM138 MED25 CBL SALL4 KCNH1 PUS7 GJA1 CHD7 COLEC10 COX7B CACNA1G KMT2A GSC ADAMTS18 SHOC2 HCCS RNASEH2A PEX1 SF3B4 CC2D2A COL11A2 NFIX DHPS MYH3 LGI4 BPTF NUP133 RAF1 IREB2 SRD5A3 B9D1 TRIM32 KCNK4 FGFR1 HDAC6 ORC6 VSX1 HRAS RNF113A TFAP2A CEP57 FGFR3 MRPS16 SEMA3E CHST14 CHRND RPGRIP1 CEP120 INPP5E PIEZO2 BCOR HDAC8 EDNRA ESCO2 TCTN2 MRAS PEX12 SLX4 PEX10 NEK1 MECP2 NUP107 OCLN TAB2 CHRNG DVL1 BRAF BBS4 TREX1 AFF2 RAD21 BUB3 OFD1 DHODH CEP290 CASK NALCN MBD5 GREB1L EXOSC9 ARL3 COL11A1 ATRX PSMB8 FANCA HOXA2 ABCA12 KDM6B KLHL7 TBR1 DSE BRF1 FBXO11 CHUK FAR1 RAI1 RAB23 VARS1 RAB18 TCTN1 PHGDH CHD3 TAF1 XRCC2 TBC1D20 TMEM67 ITCH WFS1 MPLKIP WNT4 CCDC8 NTNG1 TOE1 HYMAI ALKBH8 SSR4 FGFR2 OCRL EBP DCAF17 MEOX1 ARL13B ERCC2 WNT5A NEXMIF HSD17B4 PMM2 CEP104 GTF2IRD1 LARP7 UFD1 LETM1 FANCB KIAA0586 SH3PXD2B GPKOW PIGY RAC1 SMARCD1 FANCM TRIO AGRN ERCC6 ACTA1 GPC4 LMBRD1 SLC9A6 ZMPSTE24 PKHD1 PPP2R5D DPF2 C12orf57 EP300 DIS3L2 LFNG ALX3 ALG13 ARMC9 ANKRD11 MAP2K2 SIN3A CLIP2 COMT POR WDPCP ACTG2 CRPPA DOK7 GLIS3 PEX26 FANCL ERCC3 PLAA EFTUD2 MAFB DCHS1 ITGA3 PEX5 PCGF2 ATP6V0A2 DNMT3B NANS HIRA ADAR BCR CEP41 AKT1 IFIH1 TGM1 SRY PTDSS1 CPLX1 CREBBP OTUD6B TMEM94 MN1 UGP2 COL6A1 DNAJC21 PREPL SLC25A1 RPL35A IGLL1 SOS1 RERE EZH2 TBC1D24 TMCO1 GNAI3 NSD2 WNT3 MKS1 CHRNA7 TRPS1 PEX2 KCNK9 TNNT3 MAD2L2 MED12 FGD1 PLK4 GATA4 CHAMP1 VPS13B PACS1 TALDO1 ACAN PRDX1 PEX13 SLC18A3 CHSY1 KIAA1109 STRA6 NAA10 HECW2 POLA1 XYLT2 PBX1 CDKN1C AGA HUWE1 ARX RPS26 PIGN PIGT RPL10 COL5A2 PIBF1 BLM PLEC RIT1 CILK1 ATR TRAIP TUBB TNNI2 CDC45 HMGB3 KCNQ1 EIF2S3 IGF1R PGAP1 EVC ALX1 FAT4 EYA1 ERCC5 TAPT1 NBN KDM5B QARS1 ALG8 EVC2 NR2F1 RET ITGB6 CDC6 POLR3A PALB2 LIPN PEX16 PDE6D SDR9C7 CAMKMT SOX4 ABCC8 ASNS COL13A1 DHCR7 NSDHL GLUL MASP1 MYO18B MGP RTTN CEP152 SLC1A4 TCTN3 GLI3 RECQL4 PPP1CB A2ML1 FKRP GPC6 MAPK8IP3 HES7 NUP188 RPS6KA3 HHAT PHOX2B PIGL TPM2 QRICH1 CPLANE1 RNU4ATAC AMER1 CYP4F22 B3GLCT TUBB3 SALL1 PRDM16 MRPS22 FZD2 HSPG2 BBS5 FTSJ1 POMGNT2 GMNN IFT52 MEF2C CANT1 ATPAF2 TXNL4A MBTPS2 RREB1 TWIST2 LAS1L TMEM237 PEX11B HOXA13 UBE3B BMP2 SLC39A8 PAH TUBGCP4 WASHC5 TMEM216 RSPRY1 DCPS ALG12 ACTB PRKDC PEX19 ALG9 TRMT10A NXN TBCE NKAP SLC12A6 SEMA5A TMEM107 COG1 MAP3K7 TBX15 HELLS MAN2B1 ADGRG6 CLCF1 EED GDNF PPP2R3C VPS37A PSMD12 KAT6B KCNJ2 CNTNAP1 SLC25A24 FANCD2 MMACHC LARGE1 TMEM165 NF1 AEBP1 ZIC3 RIPK4 LRP2 POLE BRWD3 DVL3 BCL11B EEF1A2 BAZ1B ASCL1 CENPF ATIC CCBE1 RYR1 DOCK7 UBA1 PTH1R AP1S2 HS6ST2 GK BHLHA9 POMT2 DYNC2LI1 EXOSC2 SMOC1 ZDHHC9 TLK2 TBX4 KCTD1 TP63 GP1BB SOST RHOBTB2 COLEC11 EFL1 BBS12 MVK ERCC1 FLNA RAD51 SLC26A2 JAG1 SLC16A2 TET3 PLCB4 ATN1 PCNT ADAT3 EDN1 LIG4 IFT27 ZIC2 ZNF711 ALG3 SDCCAG8 CENPJ PQBP1 MAP2K1 EXT2 SMC3 EPG5 ERF KYNU HYLS1 BCL11A MPDZ MUSK KIF15 IGBP1 ATRIP CHST3 ACTG1 IRX5 CRKL ZBTB20 FMR1 FAM20C COL6A2 IFT81 POLR1D LMOD3 BBS7 CDK13 CDCA7 HOXB1 PIGV PIGO SNAP29 RPS23 DPH1 KLHL40 SMC1A TBX22 ADAMTS3 GBA RAD51C PUF60 SPART CTNND2 GLI2 CDC42 MBTPS1 TBX1 TBL1XR1 DLL3 BBS1 CD96 POC1A SETD5 CHRNA1 LZTR1 CCDC22 MYOD1 PRPS1 ALOX12B KIF11 POGZ CUL7 TFAP2B MGAT2 CHAT ASXL2 KDM5C CDT1 ATP6V1A CTCF RBBP8 SLC6A17 C8orf37 NPHP1 KDSR DHCR24 DHX37 PIGW PHIP GABRD TBCD AGPAT2 CDK10 ATP6V1E1 CSPP1 AHDC1 ITGA8 NOTCH3 AHI1 RRAS KIF7 IFT172 CUL4B NDUFB11 BUB1B RPL11 MAB21L1 SNRPB SETD2 NDE1 LAGE3 ANTXR1 KDM6A CTH CLIC2 PHACTR1 OSGEP PPM1D SMS GLE1 CCDC47 TMEM231 LIMK1 B4GALT7 PRRX1 RPS28 PAFAH1B1 FBN2 FBN1 FGF20 KIFBP CD79A AFF4 FOXG1 MAPRE2 CCNK COG7 SLC6A9 SIX5 ELN CEP55 MED13L PORCN MRPS14 ATP6V1B2 KIF14 FGFRL1 ALDH18A1 NRAS WDR4 DYRK1A FKTN KANSL1 ERCC8 AP4E1 SMARCD2 SLC5A7 PEX6 KIF1A ROR2 FIBP IGF2 DENND5A SHANK3 USP7 SRCAP HSPA9 ZC4H2 FLI1 DZIP1L OTX2 FRAS1 TMEM70 C2CD3 COL6A3 PLAGL1 MEGF8 NTNG2 SKI UNC80 MCTP2 AP3D1 SOX11 RPGRIP1L ARVCF PRUNE1 MAPK1 EXT1 CTU2 HBA1 DONSON PTPN11 VPS33B ABHD5 DST PIK3CA DHX30 KAT6A POLR1C TBX2 RNASEH2B IL1RAPL1 STAMBP BMP1 UBE2T PTCH1 HERC1 PXDN MAF LMNA HNRNPK SOS2 SLC2A1 STAG1 NUP88 TBC1D23 RBM10 MYO9A PEX14 SEPTIN9 GPT2 RFC2 ERCC4 CDH11 GTPBP2 SNAP25 MID2 CCNQ BBS10 MEIS2 BICD2 ZNHIT3 FOXP1 RAB3GAP2 ZBTB24 IQSEC2 SPINT2 FRMPD4 ACOX1 BBS9 GPX4 BBS2 OPHN1 NHS KCNJ11 MYCN JMJD1C TCF20 GRIA3 ZBTB18 LZTFL1 TTI2 AUTS2 BRCA2 STXBP1 NELFA RXYLT1 NECTIN1 PAX1 GJB4 NSUN2 FOXL2 GJB3 TRRAP RAB11B PTF1A NFIA KIF22 PIK3R1 CXorf56 BRCA1 PYCR1 WDR35 ZEB2 DLX5 HOXD13 TARS1 B3GAT3 ETFDH SIX2 PLVAP PNPLA6 SULT2B1 SON ALX4 MKKS COL5A1 WDR19 TUBGCP6 KCNQ1OT1 RMRP CSNK2A1 RNASEH2C CPT2 PYCR2 PIEZO1 TTN NSD1 B4GAT1 EFEMP2 BUB1 PPP1R15B ARL6 SATB2 PIGS UMPS USP9X INTU SOX5 SPECC1L SEC24C BSCL2 PPM1B PEX3 MAGEL2 BMP4 SYT2 DOCK6 COL7A1 RB1 PGAP2 TTC8 RSPO2 RIPPLY2 LIFR MYSM1 FANCE CTSD YWHAE ARID1A VAMP1 PTPRF STAG2 RBM8A RFWD3 LSS PSAT1 NIN SMG9 IGHM EMC1 NIPBL GNE GTF2H5 CHD4 LRRC8A ADAM17 YY1 GNS TSR2 INTS1 SCARF2 ZNF148 ECE1 SPEG FANCF ADNP LONP1 SAMHD1 TRIP13 MESP2 GPR101 CNOT1 TP53RK SPRED1 FIG4 B9D2 GTF2E2 TTC37 FANCG DLX4 ASXL1 TSHZ1 KIAA0556 ANK1 NIPAL4 MLXIPL CDKL5 AIP TAZ RUSC2 COL3A1 FREM2 FGF3 PCLO FANCI TRAF7 POMGNT1 UGDH GABBR2 APC2 ORC1 PAK1 PIGA ACP5 AIFM1 TPRKB MCM5 APC UBE2A YME1L1 SLC2A10 OBSL1 CHN1 AMPD2 WAC NDP RBMX ETFA ALOXE3 FOXP2 ADAMTSL2 FGF10 PLOD3 TRAPPC9 RIC1 PUM1 ZNF423 RAPSN CENPE LBR NOTCH2 DACT1 ETFB FAM149B1 GATA1 WNT7A EIF4A3 GTF2I KLHL41 LMX1B BMPER PAM16 LRP4 KCNN3 RASA2 THOC2 PDE4D COG5 COL4A1 DPP6 BMPR1A STAC3 EHMT1 KIAA0753 KLF13 TMEM260 ACER3 TENM3 GRIA4 SLC3A1 VIPAS39 RARB ORC4 GRIP1 BRPF1 EDN3 CRLF1 WDR73 BIN1 CD79B ADAMTSL1 EBF3 SCYL2 XYLT1 CAMK2G SIM1 TRPV4 POMK DPYD SET MARS2 FANCC FBXL4 COL1A1 MSX2 PAK3 DAG1 TBL2 TGDS AHSG ERMARD SUZ12 RDH11 TUBGCP2 VAC14 TCF3 FHL1 BBIP1 MITF B3GALNT2 CWC27 SMAD4 MAN1B1 FLNB TPM3 PGAP3 COL2A1 RPL26 ERLIN2 ARID2 AP3B1 HBA2 CIT HP_ABNORMAL_LOCATION_OF_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCATION_OF_EARS TWIST1 KMT2D INSR FRMD4A KCNAB2 ARID1B PTEN SOX9 GPC3 RRAS2 UPF3B NEB KRAS ADSL SETBP1 TMEM138 MED25 CBL PUS7 GJA1 COX7B CACNA1G KMT2A ADAMTS18 SHOC2 RNASEH2A SF3B4 CC2D2A COL11A2 NFIX DHPS RAF1 IREB2 SRD5A3 B9D1 TRIM32 KCNK4 FGFR1 HDAC6 ORC6 HRAS TFAP2A CEP57 MRPS16 CHST14 CHRND RPGRIP1 INPP5E PIEZO2 BCOR EDNRA KCNH1 ESCO2 TCTN2 MRAS PEX12 MECP2 OCLN TAB2 CHRNG DVL1 BRAF BBS4 TREX1 RAD21 BUB3 OFD1 DHODH CEP290 NALCN MBD5 GREB1L EXOSC9 ARL3 COL11A1 ATRX KLHL7 TBR1 DSE BRF1 FBXO11 RAB23 VARS1 RAB18 TCTN1 CHD3 TAF1 TBC1D20 TMEM67 ITCH WNT4 OCRL EBP ARL13B WNT5A HSD17B4 CEP104 GTF2IRD1 LARP7 UFD1 KIAA0586 SH3PXD2B FGFR2 MYH3 GPKOW RAC1 AGRN RAB3GAP1 ACTA1 LMBRD1 ZMPSTE24 PKHD1 PPP2R5D DPF2 C12orf57 EP300 DIS3L2 LFNG ALX3 ALG13 ARMC9 MAP2K2 CLIP2 COMT WDPCP ACTG2 CRPPA DOK7 GLIS3 PEX26 PLAA EFTUD2 GPC4 PCGF2 ATP6V0A2 DNMT3B HIRA ADAR CEP41 AKT1 IFIH1 SRY CREBBP OTUD6B TMEM94 MN1 UGP2 PREPL SLC25A1 RPL35A SOS1 RERE TBC1D24 TMCO1 GNAI3 NSD2 WNT3 MKS1 PEX2 GATA4 CHAMP1 PACS1 TALDO1 ACAN PRDX1 SLC18A3 CHSY1 KIAA1109 STRA6 NAA10 XYLT2 PBX1 HUWE1 ARX RPS26 PIGT RPL10 PIBF1 RIT1 CILK1 TUBB HMGB3 IGF1R ALX1 ERCC5 TAPT1 QARS1 ALG8 RET CDC6 POLR3A HDAC8 PEX16 PDE6D CAMKMT SOX4 COL13A1 DHCR7 NSDHL GLUL MASP1 MYO18B RTTN SLC1A4 TCTN3 RECQL4 PPP1CB A2ML1 GPC6 MAPK8IP3 HES7 NUP188 PHOX2B QRICH1 CPLANE1 RNU4ATAC AMER1 B3GLCT TUBB3 PRDM16 MRPS22 FZD2 HSPG2 BBS5 POMGNT2 MED12 GMNN IFT52 MEF2C CANT1 ATPAF2 PEX13 MBTPS2 RREB1 TMEM237 PEX11B UBE3B BMP2 SLC39A8 WASHC5 TMEM216 RSPRY1 DCPS ACTB PRKDC PEX1 ALG9 NXN TBCE SEMA5A TMEM107 COG1 MAP3K7 HELLS ADGRG6 EED GDNF PPP2R3C PSMD12 KAT6B KCNJ2 CNTNAP1 SLC25A24 MMACHC TMEM165 NF1 ZIC3 RIPK4 LRP2 POLE DVL3 BCL11B EEF1A2 BAZ1B ASCL1 CENPF ATIC CCBE1 PTH1R HS6ST2 GK DYNC2LI1 EXOSC2 SMOC1 ZDHHC9 TLK2 GP1BB POMT1 COLEC11 EFL1 BBS12 MVK ERCC1 PLCB4 ATN1 PCNT ADAT3 LIG4 IFT27 SDCCAG8 CENPJ MAP2K1 SMC3 EPG5 ERF KYNU HYLS1 BCL11A MPDZ MUSK KIF15 PEX5 IGBP1 IRX5 ZBTB20 FAM20C IFT81 LMOD3 BBS7 CDK13 CDCA7 COLEC10 HOXB1 PIGV RPS23 DPH1 KLHL40 SMC1A ADAMTS3 GBA PUF60 SPART CTNND2 CDC42 MBTPS1 TBX1 TBL1XR1 DLL3 BBS1 CD96 SETD5 CHRNA1 LZTR1 CCDC22 POR MYOD1 PRPS1 POGZ FLNA GLI3 TFAP2B MGAT2 CHAT ASXL2 CDT1 ATP6V1A CTCF C8orf37 NPHP1 DHCR24 GABRD POMT2 PEX10 CDK10 ATP6V1E1 CSPP1 AHDC1 ITGA8 NOTCH3 TPM2 AHI1 RRAS KIF7 IFT172 BUB1B RAI1 MAB21L1 SNRPB FAT4 ANTXR1 KDM6A PHACTR1 OSGEP PPM1D SMS GLE1 TMEM231 LIMK1 B4GALT7 PRRX1 RPS28 PAFAH1B1 FBN1 FGF20 KIFBP AFF4 MAPRE2 CCNK COG7 SLC6A9 LARGE1 ELN CEP55 ATR MED13L PORCN MRPS14 KIF14 ALDH18A1 NRAS KANSL1 SMARCD2 TBX15 SLC5A7 ROR2 TWIST2 IGF2 USP7 FGD1 SRCAP EYA1 ZC4H2 FLI1 DZIP1L OTX2 FRAS1 TMEM70 C2CD3 CDKN1C MEGF8 NTNG2 SKI UNC80 MCTP2 AP3D1 SOX11 PIGN RPGRIP1L ARVCF EXT1 CTU2 HBA1 DONSON FANCB PTPN11 VPS33B DST DHX30 KAT6A TBX2 RNASEH2B STAMBP HERC1 MAF LMNA EDN1 SOS2 STAG1 NUP88 RBM10 MYO9A SEPTIN9 GPT2 PEX19 RFC2 CDH11 GTPBP2 SNAP25 CCNQ BBS10 MEIS2 RAB3GAP2 ZBTB24 SPINT2 ACOX1 BBS9 GPX4 BBS2 PEX6 MYCN JMJD1C TCF20 ZBTB18 CEP120 LZTFL1 AUTS2 STXBP1 NELFA RXYLT1 NSUN2 TRRAP PTF1A NFIA KIF22 WDR35 HOXD13 B3GAT3 SIX2 PLVAP PNPLA6 SON ALX4 MKKS RMRP CSNK2A1 RNASEH2C CPT2 PYCR2 CDC45 B4GAT1 EFEMP2 BUB1 ARL6 SATB2 TRPS1 PIGS UMPS USP9X INTU SOX5 SPECC1L SEC24C PPM1B PEX3 MAGEL2 BMP4 SYT2 DOCK6 RB1 TTC8 RIPPLY2 LIFR MYSM1 CTSD YWHAE VAMP1 STAG2 RBM8A PSAT1 SMG9 PYCR1 NIPBL GNE CHD4 LRRC8A YY1 GNS INTS1 ECE1 SEMA3E ADNP SAMHD1 CHD7 TRIP13 MESP2 CNOT1 SLC26A2 SPRED1 FIG4 RSPO2 TTC37 DLX4 ASXL1 KIAA0556 RUSC2 FREM2 LETM1 FGF3 PCLO TRAF7 POMGNT1 ORC1 ACP5 AIFM1 MCM5 WAC ERCC4 PLOD3 PUM1 ZNF423 RAPSN LBR NOTCH2 CHST3 PEX14 FAM149B1 EIF4A3 GTF2I KLHL41 LMX1B BMPER PAM16 RASA2 PDE4D FKRP B9D2 FGFR3 COG5 COL4A1 PTCH1 BMPR1A EZH2 STAC3 KIAA0753 TTI2 TMEM260 ACER3 TENM3 SLC3A1 VIPAS39 RARB ORC4 GRIP1 EDN3 CRLF1 EBF3 SCYL2 NSD1 XYLT1 CAMK2G SIM1 TRPV4 POMK PAX1 MARS2 DAG1 WNT7A TBL2 TGDS ERMARD SUZ12 RDH11 VAC14 FHL1 KCTD1 FKTN BBIP1 MITF B3GALNT2 CWC27 CAMTA1 SMAD4 MAN1B1 FLNB TPM3 COL2A1 WDR73 ARID2 AP3B1 HBA2 HP_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIORLY_ROTATED_EARS PPM1D KMT2D TMEM231 LIMK1 MRAS PRRX1 FRMD4A KCNAB2 RPS28 AFF4 ARID1B MAPRE2 CCNK GPC3 RRAS2 LARGE1 ELN NXN CEP55 KRAS TMEM138 CBL COX7B ADAMTS18 SHOC2 ORC6 SF3B4 CC2D2A NFIX TRIM32 ROR2 HRAS TFAP2A FGD1 CHST14 SRCAP RPGRIP1 INPP5E PIEZO2 KCNH1 ESCO2 LRP2 PEX12 FGFR1 FLI1 CTCF DZIP1L GPC4 OTX2 FRAS1 DVL1 FAM20C C2CD3 BRAF BBS4 SKI RAD21 UNC80 BUB3 SOX11 CEP290 PIGN ATRX KIAA0586 RERE COG1 KIF7 TBR1 B9D1 DSE EXT1 HBA1 PTPN11 FBXO11 RAB18 SLC18A3 TBC1D20 TMEM67 ITCH B3GLCT CPLANE1 KAT6A OCRL HERC1 TMEM216 WNT5A MAF SMC1A PEX1 EDN1 GTF2IRD1 SOS2 XYLT2 NUP88 RBM10 CEP57 PEX19 RFC2 CDH11 NOTCH3 RAB3GAP1 RAF1 PKHD1 BBS10 DHCR24 DPF2 NSDHL LFNG ALX3 BBS9 MAP2K2 CLIP2 GPX4 BBS2 WDPCP PEX6 ACTG2 GMNN CRPPA DOK7 MYCN PEX26 TCF20 PLAA LZTFL1 PEX5 CEP41 NELFA DVL3 RXYLT1 SRY NSUN2 MN1 TRRAP RPGRIP1L PREPL BUB1B SOS1 CSPP1 HOXD13 TCTN2 TMCO1 GNAI3 NSD2 SIX2 FGFR2 PNPLA6 SLC25A24 MKKS MVK RMRP ACAN TCTN3 RAB3GAP2 POLR3A CPT2 CDC45 KIAA1109 CDC6 B4GAT1 BUB1 KMT2A HUWE1 ARL6 RPS26 TRPS1 PIGS MYH3 RIT1 UMPS MKS1 USP9X SOX5 TUBB GBA SPECC1L PPM1B PEX3 BMP4 ALX1 TMEM107 TAPT1 QARS1 HDAC8 PEX16 PDE6D CAMKMT TTC8 AMER1 RIPPLY2 SOX4 NALCN DHCR7 PPP1CB TMEM237 RTTN KAT6B RECQL4 RBM8A A2ML1 GPC6 HES7 SMG9 PHOX2B PYCR1 NIPBL GLI3 PRDM16 MRPS22 FZD2 HSPG2 BBS5 YY1 POMGNT2 NPHP1 CANT1 PEX13 PLCB4 ECE1 PEX10 PEX11B SEMA3E BMP2 CHD7 TRIP13 MESP2 HYLS1 SLC26A2 SPRED1 SMC3 TBCE SEMA5A ASXL1 MAP3K7 RUSC2 FREM2 LETM1 DHODH GDNF PPP2R3C BCOR POMGNT1 ORC1 TMEM165 NF1 NRAS POLE PEX2 MAP2K1 BCL11B NAA10 BAZ1B ASCL1 WAC CEP120 EXOSC2 SMOC1 TLK2 POMT1 BBS12 ZNF423 ERCC1 RAPSN ADNP ATN1 PEX14 FAM149B1 LIG4 IFT27 GTF2I SDCCAG8 ERF RASA2 MPDZ MUSK PDE4D FKRP B9D2 RNU4ATAC POGZ COG5 COL4A1 BBS7 CDK13 HOXB1 EZH2 PIGV CDC42 KIAA0753 PUF60 DIS3L2 SLC3A1 CTNND2 ORC4 GRIP1 EDN3 MBTPS1 TBL1XR1 DLL3 BBS1 EBF3 CD96 ALG9 NSD1 XYLT1 OFD1 TRPV4 SETD5 POMK LZTR1 MYOD1 MGAT2 ASXL2 DAG1 TBL2 FLNA ERMARD C8orf37 SUZ12 TGDS GABRD POMT2 FHL1 CDK10 FKTN BBIP1 MITF B3GALNT2 RET FBN1 CDT1 AHI1 RRAS GLE1 IFT172 RAI1 MAB21L1 SNRPB KDM6A EED ARID2 AP3B1 HBA2 HP_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INNER_EAR TWIST1 CTBP1 ELMO2 CHD7 CLCN4 MICOS13 HAAO TECTA FRG1 KCNAB2 MYH7 MVK MT-CO1 PTEN TBL1Y REEP6 XPA KIAA1549 NF1 KISS1 ERCC3 RRAS2 MEFV CTLA4 SOST TNNI3 NEFL CLRN1 DDX11 MOGS KCNQ1 ATRX SIX1 GATA3 SPRY4 TYMP TACR3 SALL4 FGFR3 KCNH1 FGF17 PUS7 LRP5 ARHGEF6 DOLK RDH12 CACNB4 PEX1 DMD GLA CCR1 MT-TL1 MT-ND4 PDGFB NDUFS3 EYA4 MCM2 CDH23 SLC26A4 ANOS1 CALM1 COL2A1 USH1C ARX COL11A2 DNMT1 BCOR MT-TK PPIP5K2 HRAS FHL2 EGF RNF113A SETBP1 IRF2BP2 SLC35A2 TFAP2A SEMA3E XRCC4 ACTN2 ILDR1 SLC7A14 RLBP1 EDC3 PHYH MRAS PEX12 PEX10 AGBL5 SUFU GNRHR KMT2D WDR11 SARDH COX8A SLC19A2 RAD21 C4A SERAC1 CASK ERCC2 DES ALDH18A1 BEST1 RPS6KA3 COL11A1 LRP12 BCS1L LAMA4 HOXA2 ARSA MYH9 SQSTM1 EIF3F DMP1 WFS1 NDUFS6 TNNT2 PEX7 RFC1 RAB23 RDX EDNRB FLRT3 SLC25A11 KISS1R ASCL1 PTPN22 MPL OPA1 TMEM132E ABHD12 DGUOK DCAF17 MEOX1 OFD1 ANKH USH1G ARL6 GTF2IRD1 MT-ND5 TPM1 LETM1 NDUFS8 NDUFAF3 CDHR1 FAS TMEM126B HACE1 COCH TARDBP GRHL2 RAC1 ATP6V1B2 SDHD CNGA1 DHDDS MIR96 AGRN KITLG POLG ERCC6 DLST WHRN NF2 COX6B1 RNF13 PCDH15 DCC TET2 COX14 MT-TW PEX2 POU3F4 SUMF1 DNMT3B SCN1A NEK2 NEBL TAF1A MAK RBM20 CLIP2 BBS2 HESX1 MYO3A GP1BA FGFR2 GLIS3 IL23R ERF ERAP1 MITF MAFB GJC2 GPC4 NDUFS2 NDUFV1 NOP56 C8orf37 STRC MYO7A NEU1 ENPP1 CAP2 CEP78 BCR PEX19 IQSEC2 DKK1 AKT1 SOX10 CERKL PTDSS1 CPLX1 MYL2 DIAPH1 DVL1 TPK1 ATP1A2 MT-TF SMCHD1 SLC25A1 DUSP6 ZNF41 MEN1 SOS1 EPOR SCN1B MDH2 MT-ND6 TBC1D24 DNMT3A HLA-B PROKR2 CAT SIX6 DDB2 CD164 MED12 PEX26 TRPV3 SYP VPS13B PDZD7 TMC1 PRPF4 RAF1 TANGO2 CIB2 TUB MT-ND3 SEMA3C SPNS2 PEX13 TTC8 SLC18A3 SLC9A7 OSBPL2 CHSY1 PIK3R1 SBF2 NDUFB3 CLPP KCNJ10 KMT2A LORICRIN RPL10 RIT1 TIMM8A HGSNAT FAT4 NSMF LRP4 ERCC4 DNM1L ARHGEF18 ADA2 RP1 HDAC8 NDUFS7 PEX16 CRYM MT-ND1 NLRP12 CATSPER2 DHCR7 SNAP29 PRDM5 KARS1 CHCHD10 RTTN SDHB VHL ANKRD1 A2ML1 WNT10B TACO1 MYBPC3 ERCC5 ALMS1 GUCA1B PDE6G CCDC50 SMPX CLCNKA CDK5RAP2 ATP6V0A4 KIF7 SPATA5 TUBB3 SALL1 HCFC1 FUS CEACAM16 PRDM16 ERCC1 IDH3B TBCK GJB2 MYO6 MFN2 MAP3K20 HS6ST1 TSPEAR PDE6B PEX11B MT-TE GATAD1 GAB1 HOXA11 COX10 C1QBP PHOX2B EDN3 PEX3 NAGA PNPT1 TRDN SLC26A5 ALG12 RET ACTB PRKDC HTRA2 NDUFS1 ITGA2 SEM1 SPATA7 TRMT10A POMK TNNC1 IGF1 COL4A3 ZBTB16 MT-CYB GRXCR1 MAP3K7 COA8 MAN2B1 DAB1 PEX6 PPP2R3C FXN RPGR MYH14 CALM3 CNKSR2 CLDN14 LRP2 GLI3 FLNA TWNK KYNU GBA2 BAZ1B MT-TS2 NDUFS4 CCBE1 GJB1 CYP7B1 CACNA1A SOX2 ATXN3 CLCNKB SDHA EXOSC2 PPCS UBR1 COL4A5 BCAP31 OTOGL COL4A6 TPRN EPRS1 SLC12A3 SYNE4 TMEM126A GLYCTK PTCHD1 ACSL4 PDK3 PMP22 COL9A3 PCNT MARVELD2 EYS IDUA LRTOMT CDK8 RGR MAP2K1 PAX3 TRRAP EPG5 TBK1 CRYAB MPDZ PSEN2 MT-TP GNPTAB IGBP1 IRX5 CRKL RYR2 NDUFA6 SCN5A STAT4 HOXB1 KLHL7 TRIOBP GJB6 PIGV TCOF1 HARS2 SLC52A2 GIPC3 HOMER2 ALG13 TBX22 KRAS PAK3 TNFRSF11B JUP BRAF PGM3 CDC42 NDUFA1 SLC4A11 NDUFA11 USH2A RP2 SETD5 LDB3 FRMPD4 LZTR1 IFT172 BMP4 PRPS1 CSRP3 POGZ FAM161A MGAT2 RPE65 DMXL2 ECE1 BTRC DIABLO CHAT ATP2B2 NKX2-5 HOXA1 ACY1 PRKAR1A ARL3 GDF6 LRAT GABRD ADK TP63 TRAPPC4 NDUFB9 OTOF MERTK NRTN PERP KCNA1 MT-TV LHFPL5 GNRH1 TPM2 POMGNT1 PSAP RRAS IARS2 CASQ2 GALE RNASET2 PNPLA2 MRPS2 COL9A1 GTF2E2 GNAS NEXN TRAPPC11 FEZF1 PLAA CRB1 ZNF81 NUBPL SNX14 S1PR2 NKX2-1 SLC39A14 PDGFRB PJVK LIMK1 SOX3 MARS2 MPLKIP SUCLA2 PRRX1 PSEN1 FGFR1 JAK2 RPS28 AFF4 SURF1 SH2B3 STAT5B PRPF6 MT-ND2 COL9A2 AMMECR1 NOTCH3 PRPH2 SIX5 ELN IL12A-AS1 ARID1B PNPLA8 PORCN PNP THPO RAB39B MT-TC FGF8 FGFRL1 TRNT1 GFER NRAS TMPRSS3 TRPM4 ZNF408 DBH ALG11 GDF5 XPC NDUFV2 KLRC4 ERCC8 SLC5A7 HSD17B10 MT-TQ DCHS1 POLR1D GMPPB FIBP NLRP3 IL1RAPL1 NDUFB11 CLIC5 CACNA1G GPSM2 ARSG FOXI1 EYA1 MYD88 COL13A1 B2M RIPOR2 TIMMDC1 OTX2 SLC17A8 NDUFAF8 NDUFB10 NARS2 MT-CO3 FAM20C TECRL MEGF8 GP1BB LARS1 NUMA1 CRX MID2 RERE ROBO3 MAPK1 TMPO FOXRED1 PRRT2 PTPN11 SKI RBP3 CNGB1 NOG ADGRV1 AAAS ZNF513 ESPN ABHD5 NDUFAF4 CISD2 CCDC141 IFT140 PUS3 TSPAN7 HFE PTPRQ SEMA3D HLA-DPB1 COL27A1 REST MAF NPM1 SMC1A CSPP1 SOS2 GDNF MT-TH XYLT2 C9orf72 MYO9A PEX14 PEX5 MT-RNR1 IL12A RFC2 MYPN RHO HAND2 OTOA KIZ SGPL1 SNAP25 DSPP FOXC1 PRPF8 GCDH NSD2 ACOX1 LMNA NABP1 VPS11 COA3 ACVR1 ABCA4 FGF3 CD151 NRL TBL1XR1 POLR1C PROM1 PRTN3 ATP6V1B1 MET IMPDH1 CDH11 SNAI2 CNNM2 TARS1 ZNF711 PRCD PNPLA6 KCNE1 FKBP14 NDUFAF2 NDP CA4 GDI1 ABCC9 ATP1A3 COQ6 EFNB1 LHX3 NR2E3 SLC52A3 PPP1R15B YAP1 ESRRB PCARE MT-CO2 COX20 GSDME GMPPA IARS1 DNAJC3 DSG2 ROR1 CEP250 FTO SYT2 PRMT7 DCDC2 AHR ADCY1 PLS1 TMEM38B PAX2 ACO2 SCO1 NDUFAF5 VAMP1 AARS1 GRXCR2 SLC1A3 TRPV4 SDHAF2 STAG2 FKTN RBM8A FTSJ1 MYO15A TAZ UPF3B TOP3A CTNNB1 DIAPH3 TCAP DLX5 PET100 NIPBL GJB3 GTF2H5 PML TXNRD2 TOPORS RFT1 COQ2 SCAPER ARL2BP HSD17B4 CXorf56 RRM2B PROK2 SDHC FH IL17RD LONP1 VCL CNOT1 PRPF3 FAM149B1 SMC3 MT-TI XPNPEP3 CCND1 CALM2 ZNF469 SELENOI ITGA2B PTRH2 FBN1 MLXIPL GJA1 MT-ATP6 TNFRSF1A MBTPS2 HGF UBAC2 RARA LMX1B EPAS1 CHN1 FOXE3 ATP6AP1 WAC RDH5 AHI1 CBL FIP1L1 MPZL2 SLC44A4 SAG MECP2 SLC29A3 GRAP P2RX2 MT-TN HLA-DPA1 SLC25A4 PLN FGF10 TLR4 MECOM HARS1 LOXL3 BAG3 GTF2I FLI1 DHX38 IDH3A TAC3 USP27X KCNN3 RASA2 DNASE1L3 ESRP1 TK2 IL10 COG5 RP9 STAT3 COX15 AGTR2 ACTC1 DUX4 BEAN1 MPZ EBP GYG1 TMEM127 ADAMTSL1 GATA2 ORC1 ARNT2 SGCD PAX1 NDUFAF1 DLG3 ITGB3 EPS15L1 DNAJC19 ROM1 GUCY2D TBL2 POLD1 FLNB SEMA4A MAX TULP1 SNRNP200 IFT88 KIF1B SGMS2 VCP ARHGDIA FSCN2 ZIC1 AIP SEMA3A AP1B1 NDE1 IMPG2 CD109 BTK LOXHD1 TTN USP9X DLX6 ZMPSTE24 PRPF31 BTD KDM6A MYH6 ACTG1 AIFM1 BSND PDE6A AP1S2 COL3A1 HP_TINNITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TINNITUS MDH2 SDHAF2 SLC39A14 SDHD DNMT3A BAP1 CCND1 RET MIR96 NAGA TERT SMO DLST SDHB NF2 VHL DIABLO AIFM1 DSPP TET2 TMC1 NF1 SDHA KCNQ4 OSBPL2 CLCNKB MAX KIF1B CACNA1A EPAS1 PDGFB SLC25A11 PIK3CA CYP11B2 SMARCE1 KCNJ5 CYP11B1 SLC44A4 DKK1 TRAF7 CACNA1D SMARCB1 SDHC FH P2RX2 SUFU MPL AKT1 TMEM127 SLC12A3 MFN2 JAK2 COCH HP_OTOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTOSCLEROSIS GDF6 COL1A1 COL1A2 BPTF PSMD12 HP_ABNORMALITY_OF_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EARLOBE ZEB2 SMS PIGY CDH11 PIK3CA EFTUD2 RBM10 SMARCD1 PTPRF B4GALT7 DOCK7 ELN PCNT FLI1 FIG4 CEP152 ESCO2 FGD1 PLK4 GLI3 MLXIPL VPS13B COL3A1 DHCR24 RBBP8 PLAGL1 HRAS POLR3A UGDH ARVCF NOTCH2 RDH11 LMNA ATRIP PHF6 TBX1 BRAF COX7B CRKL COMT MAPK1 HBA1 KCTD1 JMJD1C AHDC1 GJA1 GRIA3 ATR TRAIP HCCS SEC24C ABHD5 CENPJ HIRA BMP4 BCR HYMAI RREB1 IL1RAPL1 FGFR2 CUL4B NDUFB11 SMOC1 SEMA3E ZMPSTE24 RAC1 CHD7 GP1BB CDC6 UFD1 SLC26A2 TBL1XR1 EIF2S3 SETBP1 CENPE HBA2 HP_LOW_SET_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SET_POSTERIORLY_ROTATED_EARS RIPPLY2 NALCN DHCR7 RAB3GAP1 TMEM231 LIMK1 PPP1CB TMEM237 RTTN PRRX1 KCNAB2 TCTN3 AFF4 RECQL4 RBM8A A2ML1 MAPRE2 GPC3 HES7 RRAS2 ELN ARID1B TFAP2A HERC1 CEP55 RAB3GAP2 NIPBL TMEM138 GLI3 PRDM16 BBS5 SHOC2 HSPG2 SF3B4 CC2D2A NPHP1 CANT1 PEX13 PEX10 PEX11B SEMA3E TRIM32 ROR2 CHD7 TRIP13 MESP2 HYLS1 TMEM216 SLC26A2 SPRED1 TMCO1 SMC3 PEX1 KAT6A NXN FGD1 CHST14 RPGRIP1 MKS1 TBCE INPP5E SEMA5A RERE COG1 MRAS PEX12 FGFR1 FLI1 CTCF DZIP1L GPC4 OTX2 KRAS FRAS1 FREM2 C2CD3 LETM1 DHODH BRAF BBS4 RAD21 BUB3 GNAI3 CEP290 PIGN SLC25A24 KIAA0586 NRAS KIF7 TBR1 B9D1 DSE EXT1 HBA1 SKI PEX2 RAB18 MAP2K1 NAA10 BAZ1B CEP120 TBC1D20 TMEM67 PEX26 FGFR2 B3GLCT CBL CPLANE1 RPGRIP1L BCOR WDPCP OCRL SMOC1 SMC1A EDN1 GTF2IRD1 SOS2 BBS12 ZNF423 ERCC1 ADNP RBM10 CEP57 PEX19 RFC2 PLCB4 PEX14 FAM149B1 RAF1 LIG4 IFT27 GTF2I PKHD1 BBS10 SDCCAG8 ALX1 DHCR24 HRAS LFNG ALX3 ERF MAP2K2 RASA2 BBS9 PTPN11 UNC80 B9D2 CLIP2 FRMD4A BBS2 PEX6 ACTG2 BBS7 EZH2 CDC42 NF1 KIAA0753 LZTFL1 PEX5 CEP41 NELFA SRY SLC3A1 CTNND2 NSUN2 GRIP1 PREPL ITCH DLL3 BBS1 BUB1B SOS1 NSD1 CSPP1 XYLT1 TRPV4 SETD5 LZTR1 HOXD13 TCTN2 NSD2 PNPLA6 MKKS MVK TBL2 RMRP ERMARD C8orf37 ACAN SUZ12 PEX3 TGDS GABRD BUB1 KMT2A ARL6 TRPS1 MYH3 RIT1 UMPS BBIP1 USP9X OFD1 TUBB GBA PPM1B AHI1 RRAS GLE1 IFT172 TMEM107 RAI1 HDAC8 EED PEX16 PDE6D PLAA ARID2 CD96 HBA2 CAMKMT TTC8 HP_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR CCDC39 TWIST1 KMT2D RSPH1 DOCK8 CCDC47 CTBP1 SPAG1 ELMO2 LIMK1 BLNK KCNAB2 BACH2 RPS28 TCOF1 CD79A AFF4 REEP6 PRPF6 FGFR3 FGFR2 KIAA1549 CD19 AMMECR1 DNAH1 MAP3K7 NF1 SIX5 ELN EYA4 CTLA4 PORCN CD81 SIX1 DNAAF1 CHRNG STAT3 NSD1 FGFRL1 GDF6 CHD7 GSC DNAH9 RDH12 SALL4 BTK ZNF408 LRBA RSPH4A BPTF PLG SMARCD2 GAS8 TELO2 ROR2 WDR26 GJA1 TNFRSF13B CCDC65 DCHS1 COL2A1 POLR1D DCLRE1C COL1A1 ICOS SETBP1 RAI1 CYBC1 TFAP2A SEMA3E MGP GJB2 SRCAP EYA1 SLC7A14 BCOR EDNRA NEK1 MAN2B1 AGBL5 FRAS1 CD3G FAM20C SDHA SNRPB SKI RAD21 DHODH ARVCF BEST1 CRX HOXA2 ABCA12 NFKB2 MASP1 FANCI EXT1 NCF4 TPP2 IQSEC2 RBP3 CNGB1 RAB23 TNFSF11 NECTIN1 ZNF513 SLC25A11 TAF1 CREB3L1 DNAAF6 B3GLCT OFD1 CPLANE1 IFT140 CCDC103 CLCN7 IGHM POLR1C GNPTAB DNAAF4 HLA-DPB1 OCRL TNFRSF11A MEOX1 ANKH GJB6 SMC1A USB1 ARL6 GTF2IRD1 UFD1 LETM1 CDHR1 IL2RG CTNND1 MYH3 SDHD RET CNGA1 DHDDS RFC2 PSMD12 TAP1 CD3D FLNB FOXJ1 NOTCH3 WIPF1 DLST KIZ RPGR NCF2 PRPF8 FOXP1 DPF2 POU3F4 JAGN1 ALX3 CD3E DNAL1 NSD2 NEK2 ANKRD11 DEAF1 MAK CLIP2 BBS2 COMT POR WAS RSPH9 SLITRK6 JMJD1C ERF CFI TP63 EFTUD2 ACVR1 ABCA4 C8orf37 PCGF2 TNFRSF13C FGF3 HIRA NELFA CERKL NRL TGM1 TBX1 SRY CCDC40 PAX1 CPLX1 JAK3 NEK10 NAA10 RAC1 IDS DVL1 DNAI2 COL1A2 PROM1 SDHB IGLL1 PRTN3 DNAI1 ZEB2 CYBB MDH2 IMPDH1 DNAJB13 CDH11 DNMT3A CR2 ALMS1 IL2RB PRCD SULT2B1 RAG2 SLC25A24 FKBP14 KDM6A FAT4 PRPF4 RNU4ATAC A2ML1 CA4 TUB TCTN3 RFXANK TTC8 POLR3A NR2E3 CCBE1 CDH1 KMT2A AGA CIITA PCARE LRRC6 RPS26 TRPS1 CFAP298 DNAAF5 CCNO NCF1 NOG RUNX2 SLC35C1 HDAC4 SPECC1L SEC24C CCDC114 HGSNAT ADA ALX1 LRRC56 DLX4 GRHL3 CCDC151 PRKCD ARHGEF18 RP1 DNAAF3 CLRN1 AHR HDAC8 LIPN PDE6D SDR9C7 AMER1 OSTM1 CYBA MSX1 PRDM5 MCIDAS SDHAF2 VHL RECQL4 ZBTB20 GUCA1B PDE6G DIAPH3 FGF9 UNC119 SETD2 CD79B CFAP221 NIPBL CYP4F22 PRDM16 TOPORS STK36 IDH3B GMNN SCAPER COL11A2 ARL2BP FLNA TXNL4A TSR2 RREB1 NME8 PDE6B SDHC FH LONP1 BMP2 LBR CNOT1 RAG1 CFAP300 PRPF3 SMC3 SPATA7 SH3KBP1 ZNF341 NXN RFXAP SPEF2 ZNF469 RERE ZMYND10 TSHZ1 NIPAL4 MLXIPL FREM2 ARMC4 PRRX1 APC2 IKBKB ACP5 PTPRC TCIRG1 CARMIL2 EPAS1 ADAT3 PTPN22 BAZ1B TAPBP TCF3 SNX10 AHI1 AK2 EDN1 SAG PNP ALOXE3 HLA-DPA1 LRRC8A TLK2 TBX4 FGF10 GP1BB SOST DLG1 ARHGAP29 DNAAF2 HYAL1 DRC1 ATN1 EYS FAM149B1 LRP5 GATA1 SC5D NFKB1 RGR GAS2L2 GTF2I CD247 DHX38 IDH3A GDF5 KIF15 DHCR7 MS4A1 RHO PIGL RNF168 RP9 TMEM67 SF3B4 KLHL7 KIF7 STAC3 FMR1 RPS23 KIAA0753 RLBP1 TBX22 DNAH5 HYDIN NFIX FCGR3A RELB ADAMTS3 CDCA7 TTC12 GRIP1 PGM3 IL17RA SDCCAG8 TMEM127 GATA2 PCYT1A USH2A TAP2 FLII RP2 SETD5 IFT172 ALOX12B FAM161A RPE65 PRPH2 ROM1 AIFM1 TBL2 IRF6 TMEM216 UBB PEPD TTC25 SEMA4A TGDS CXCR4 ARL3 BMP4 NOTCH2 LRAT MAX IL6ST GABRD TULP1 SNRNP200 IFT88 KIF1B SGMS2 PIK3R1 RSPH3 FSCN2 TNFSF12 OTOF MERTK NBN FBN1 IMPG2 POMGNT1 IL7R PRPF31 RPL11 RFX5 PDE6A CRB1 ARID2 DNAH11 HP_ACUTE_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_OTITIS_MEDIA RFXAP RFXANK JAK3 CIITA RFX5 HP_ABNORMALITY_OF_THE_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL SETD5 EYA1 EFTUD2 CTBP1 GNAI3 EDNRA NOTCH3 TSHZ1 POMT1 MED12 GLI3 TCOF1 FRAS1 TWIST2 FGFR2 FKRP FREM2 HOXA2 SNRPB VPS37A SIX5 RAD21 NSD2 POR ORC1 CDC45 LARGE1 CDC6 PORCN NIPBL KMT2A SIX1 B3GLCT RPS26 GMNN CHRNG SALL4 FGFRL1 SF3B4 ADAM17 GSC CHN1 ORC6 MAFB FKTN CDT1 EDN1 FAT4 TBX15 POMT2 PAX1 CPLX1 RPL11 ORC4 GRIP1 TP63 COL7A1 SOST DCHS1 SMC1A HDAC8 LETM1 TBC1D24 RPL26 SMC3 MAF HP_ABNORMAL_COCHLEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_COCHLEA_MORPHOLOGY ARSG FOXI1 EYA1 SIX1 SLC52A2 TIMM8A NDP KCNJ10 SLC26A4 CEP78 MYO7A CIB2 PEX6 POU3F4 SIX5 CDH23 PCDH15 CLRN1 USH1C COL4A6 USH1G DDX11 HARS1 MT-TS2 ESPN ORC1 SETBP1 COCH HP_ABNORMALITY_OF_THE_PINNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINNA GNB1 TWIST1 KMT2D POLR1A CTBP1 CAMTA1 SLC6A8 PHF6 KCNJ1 INSR FRMD4A KCNAB2 POMT1 TCOF1 ARID1B PTEN RAB3GAP1 TCF4 GPC3 RRAS2 UPF3B DDX11 CLTC CBL KCNH1 GJA1 CHD7 COLEC10 SHOC2 HCCS SF3B4 NFIX MYH3 LGI4 BPTF NUP133 ORC6 RNF113A SETBP1 TFAP2A FGFR3 SEMA3E CHST14 CEP120 BCOR HDAC8 EDNRA MRAS NEK1 ESCO2 MECP2 NUP107 TAB2 BRAF AFF2 RAD21 DHODH CASK NALCN MBD5 ATRX PSMB8 HOXA2 ABCA12 KDM6B DSE FBXO11 FAR1 RAI1 RAB23 RAB18 PHGDH TAF1 TBC1D20 WFS1 MPLKIP CCDC8 NTNG1 TOE1 HYMAI ALKBH8 SSR4 FGFR2 OCRL DCAF17 MEOX1 ERCC2 NEXMIF PMM2 GTF2IRD1 UFD1 LETM1 SH3PXD2B PIGY RAC1 SMARCD1 TRIO ERCC6 GPC4 LMBRD1 SLC9A6 ZMPSTE24 PKHD1 DPF2 C12orf57 EP300 ANKRD11 MAP2K2 SIN3A CLIP2 COMT POR CRPPA FANCL ERCC3 EFTUD2 DCHS1 ITGA3 PEX5 PCGF2 NANS HIRA BCR AKT1 TGM1 PTDSS1 CPLX1 CREBBP OTUD6B MN1 COL6A1 DNAJC21 SOS1 EZH2 GNAI3 NSD2 CHRNA7 TRPS1 PEX2 KCNK9 TNNT3 MED12 FGD1 PLK4 VPS13B PACS1 RAF1 PRDX1 NAA10 HECW2 POLA1 XYLT2 PBX1 CDKN1C KMT2A AGA HUWE1 PIEZO2 RPS26 PIGN RPL10 COL5A2 BLM PLEC RIT1 CILK1 ATR TRAIP TNNI2 CDC45 HMGB3 KCNQ1 EIF2S3 PGAP1 EVC FAT4 EYA1 TAPT1 NBN KDM5B EVC2 NR2F1 ITGB6 CDC6 POLR3A LIPN SDR9C7 ABCC8 ASNS MASP1 MGP RTTN CEP152 SLC1A4 GLI3 PPP1CB A2ML1 FKRP NUP188 RPS6KA3 HHAT TPM2 QRICH1 RNU4ATAC AMER1 CYP4F22 B3GLCT SALL1 PRDM16 FTSJ1 POMGNT2 GMNN TXNL4A MBTPS2 RREB1 TWIST2 LAS1L HOXA13 UBE3B PAH TUBGCP4 ALG12 ACTB TRMT10A NKAP SLC12A6 COG1 TBX15 MAN2B1 CLCF1 EED PPP2R3C MMACHC LARGE1 AEBP1 RIPK4 POLE BRWD3 BAZ1B RYR1 DOCK7 UBA1 AP1S2 HS6ST2 BHLHA9 POMT2 SMOC1 ZDHHC9 TBX4 EBP KCTD1 GP1BB RHOBTB2 COLEC11 FLNA SLC26A2 JAG1 SLC16A2 TET3 PLCB4 KIAA0586 PCNT ADAT3 EDN1 LIG4 ZIC2 ZNF711 ALG3 PQBP1 HRAS HYLS1 BCL11A KIF15 IGBP1 ATRIP CHST3 ACTG1 CRKL ZBTB20 FMR1 COL6A2 PIGL POLR1D PIGO SNAP29 RPS23 TBX22 CENPJ GBA PUF60 DIS3L2 KRAS GLI2 MBTPS1 TBX1 TBL1XR1 ALG9 POC1A SETD5 LZTR1 MAP3K7 ALOX12B KIF11 CUL7 TFAP2B MGAT2 KDM5C CDT1 ATP6V1A CTCF RBBP8 SLC6A17 KDSR DHCR24 DHX37 PIGW PHIP GABRD TBCD AGPAT2 CDK10 CSPP1 AHDC1 RRAS KIF7 TP63 CUL4B NDUFB11 HSPG2 MAB21L1 WNT4 SETD2 NDE1 LAGE3 KDM6A CLIC2 SMS CCDC47 LIMK1 B4GALT7 RPS28 FBN2 FBN1 AFF4 FOXG1 ARX COG7 FGFR1 ELN MED13L PORCN ATP6V1B2 FGFRL1 BMP2 ALDH18A1 WDR4 DYRK1A FKTN CHRNA1 KANSL1 ERCC8 AP4E1 SMARCD2 KIF1A FIBP DENND5A SHANK3 HSPA9 FLI1 DZIP1L FANCB FAM20C COL6A3 PLAGL1 MEGF8 SKI AP3D1 ARVCF PRUNE1 RERE MAPK1 EXT1 CTU2 HBA1 PTPN11 ABHD5 PIK3CA C2CD3 POLR1C TBX2 IL1RAPL1 IGF2 BMP1 PTCH1 HERC1 MAF SMC1A PEX1 HNRNPK SOS2 SLC2A1 PIGV TBC1D23 RBM10 RFC2 PSMD12 GTPBP2 MID2 CCNQ BICD2 ZNHIT3 FOXP1 RAB3GAP2 IQSEC2 FRMPD4 LMNA OPHN1 NHS KCNJ11 JMJD1C GRIA3 ZBTB18 TTI2 OSGEP SIX1 STXBP1 NELFA RXYLT1 NECTIN1 PAX1 GJB4 NSUN2 FOXL2 GJB3 RAB11B PIK3R1 CXorf56 PYCR1 WDR35 ZEB2 CDH11 DLX5 TARS1 B3GAT3 ETFDH PNPLA6 SULT2B1 SLC25A24 COL5A1 WDR19 TUBGCP6 KCNQ1OT1 RMRP TCTN3 CPT2 PIEZO1 TTN NSD1 B4GAT1 EFEMP2 PPP1R15B PIGS INTU SEC24C BSCL2 BMP4 PYCR2 DOCK6 RB1 SON PGAP2 RSPO2 RSPRY1 ARID1A PTPRF KAT6B STAG2 LSS PSAT1 NIN SMG9 COX7B EMC1 NIPBL GTF2H5 CHD4 YY1 KIFBP TSR2 INTS1 SCARF2 ZNF148 ECE1 FRAS1 SPEG ADNP LONP1 GPR101 CNOT1 TP53RK SMC3 B9D2 ERF GTF2E2 TTC37 DLX4 NIPAL4 MLXIPL CDKL5 AIP TAZ COL3A1 FGF3 PCLO TRAF7 POMGNT1 UGDH GABBR2 APC2 ORC1 PAK1 PIGA TPRKB MCM5 APC NRAS UBE2A YME1L1 SPECC1L SLC2A10 OBSL1 MAP2K1 AMPD2 WAC NDP RBMX ETFA ALOXE3 FOXP2 ADAMTSL2 FGF10 PLOD3 TRAPPC9 RIC1 CENPE WNT3 DACT1 ETFB GATA1 WNT7A EIF4A3 GTF2I LMX1B PAM16 LRP4 KCNN3 RASA2 THOC2 ANTXR1 COL4A1 DPP6 PTF1A EHMT1 NF1 KLF13 TENM3 GRIA4 ORC4 BRPF1 WDR73 BIN1 ADAMTSL1 EBF3 CAMK2G SIM1 POMK DPYD SET FIG4 COL11A1 FBXL4 COL1A1 MAPRE2 MSX2 PAK3 DAG1 TBL2 TGDS AHSG SUZ12 NOTCH2 RDH11 TUBGCP2 B3GALNT2 CWC27 SMAD4 MAN1B1 PGAP3 CD96 HBA2 CIT HP_CUPPED_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_EAR ZEB2 SMS FGFR3 SEMA3E PIGY GNAI3 EYA1 EDNRA MED12 KDM6A AFF4 TWIST1 PQBP1 CTCF DHODH DHCR24 PIGW BCL11A PIGN MBD5 SIN3A PIEZO1 IGBP1 DDX11 QRICH1 HUWE1 RIPK4 CHD4 KCTD1 BRWD3 CHD7 PIGO DACT1 PIGL SIX1 TBX2 ECE1 FRAS1 FGFR2 FOXL2 FGF10 PGAP3 TCF4 DNAJC21 PGAP2 PIGV HP_ABNORMALITY_OF_PERIAURICULAR_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIAURICULAR_REGION KMT2D NKX2-5 EFTUD2 CTBP1 DACT1 GDF1 ZFPM2 PLCB4 TBX1 STAG2 TCOF1 GPC4 ARID1B EIF2AK3 SIX5 ALX3 NSD2 UBE3B EYA1 ANKRD11 TFAP2A IRX5 MED13L SIX1 B3GLCT SALL1 FGFRL1 SF3B4 GATA6 GSC MAFB GATA4 TMEM260 AUTS2 TXNL4A SEMA3E PAX1 CTNND2 CPLX1 CHD7 POLR1C POLR1D CITED2 SPECC1L WASHC5 KAT6A CCDC22 GNAI3 GATA5 SEMA5A EDNRA HNRNPU ANK1 VPS13B FLT4 FLNB KCNJ2 GJA5 XYLT2 JAG1 UBE2A PIGS RAB23 CHN1 MITF NAA10 FGFR2 EXT2 ALX1 BCOR KIF7 SALL4 LRP5 KDM6A PRMT7 EDN1 LETM1 GPC3 NKX2-6 FGFR1 HP_PREAURICULAR_SKIN_TAG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAURICULAR_SKIN_TAG EYA1 CCDC22 EFTUD2 CTBP1 GNAI3 DACT1 PLCB4 SEMA5A EDNRA HNRNPU STAG2 TCOF1 GPC4 ARID1B VPS13B KMT2D SALL1 SIX5 FLNB ALX3 NSD2 UBE3B ANKRD11 SIX1 IRX5 MED13L PIGS FGFRL1 SF3B4 CHN1 NAA10 MAFB TMEM260 B3GLCT EXT2 TXNL4A ALX1 BCOR KIF7 SALL4 LRP5 SEMA3E CTNND2 CPLX1 KDM6A CHD7 PRMT7 POLR1C EDN1 POLR1D LETM1 GPC3 FGFR1 WASHC5 HP_SMALL_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EARLOBE SMS JMJD1C RBM10 AHDC1 PTPRF KCTD1 GP1BB ARVCF CDC6 SEC24C TBX1 FIG4 ABHD5 UFD1 COMT HIRA RREB1 HP_ABSENT_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EARLOBE RBBP8 ATR TRAIP PCNT POLR3A B4GALT7 ESCO2 ATRIP CEP152 CENPJ PLK4 CENPE COL3A1 HP_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTITIS_MEDIA CCDC39 KMT2D RSPH1 DOCK8 CYBA CCDC47 RNU4ATAC MSX1 SPAG1 LIMK1 MGP MCIDAS BLNK BACH2 CD79A FGFR3 CD19 DNAH1 ELN ALMS1 CTLA4 SRCAP UNC119 IGHM SETD2 CD79B CFAP221 CD81 CYP4F22 RAI1 DNAAF1 STAT3 RPGR NSD1 STK36 DNAH9 DNAAF5 BTK OFD1 LRBA RSPH4A BPTF RREB1 NME8 SMARCD2 GAS8 ROR2 NECTIN1 LBR WDR26 TNFRSF13B CCDC65 CFAP298 RAG1 DCLRE1C CFAP300 ICOS TNFRSF13C SH3KBP1 CYBC1 ZNF341 NXN RFXAP SPEF2 BCOR NIPBL ZMYND10 TAF1 MAP3K7 MAN2B1 NIPAL4 MLXIPL CD3G LETM1 ARMC4 IKBKB DNAI2 ARVCF ACP5 PTPRC ABCA12 NFKB2 COL2A1 TCIRG1 NEK10 NCF4 CARMIL2 DNAI1 TPP2 ADAT3 IQSEC2 TNFSF11 BAZ1B TAPBP TCF3 DNAAF6 SNX10 AK2 CCDC103 CLCN7 GNPTAB TP63 DNAAF4 PNP HLA-DPB1 ALOXE3 OCRL HLA-DPA1 LRRC8A TLK2 TBX4 GP1BB USB1 GTF2IRD1 UFD1 DLG1 IL2RG ARHGAP29 DNAAF2 HYAL1 DRC1 RFC2 ATN1 PSMD12 TAP1 CD3D FOXJ1 WIPF1 NFKB1 GAS2L2 GTF2I CD247 NCF2 CCDC151 FOXP1 WAS DPF2 JAGN1 CD3E DNAL1 ANKRD11 KIF15 DEAF1 DHCR7 MS4A1 CLIP2 COMT RNF168 RSPH9 JMJD1C CFI FMR1 DNAH5 FGF3 HYDIN FCGR3A RELB HIRA NELFA TTC12 TGM1 SRY CCDC40 PTPN22 JAK3 NAA10 RAC1 IDS PGM3 IL17RA SDCCAG8 TBX1 GATA2 PCYT1A IGLL1 LRRC6 PRTN3 TAP2 FLII ZEB2 CYBB DNAJB13 CR2 NSD2 IL2RB ALOX12B SULT2B1 RAG2 KDM6A TBL2 IRF6 A2ML1 UBB DNAAF3 TTC25 RFXANK TGDS POLR3A CXCR4 BMP4 IL6ST CDH1 PIK3R1 AGA CIITA RSPH3 TNFSF12 CCNO NCF1 RUNX2 SLC35C1 NBN SEC24C CCDC114 ADA IL7R LRRC56 DLX4 GRHL3 FLNA RPL11 PRKCD RFX5 FGFR2 LIPN SDR9C7 DNAH11 HP_CHRONIC_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_OTITIS_MEDIA DNAAF2 RSPH1 DOCK8 MSX1 ICOS SPAG1 LIMK1 RFC2 TAP1 FOXJ1 MCIDAS BLNK WIPF1 NFKB1 CD79A GAS2L2 GTF2I DNAH1 CCDC151 ELN DNAL1 CTLA4 ANKRD11 DEAF1 MS4A1 CLIP2 IGHM COMT CFAP221 CD81 CYP4F22 RAI1 WAS DNAAF1 STAT3 RPGR RSPH9 STK36 JMJD1C TP63 DNAH9 FMR1 BTK OFD1 RSPH4A DNAH5 CD19 HIRA RREB1 NELFA NME8 GAS8 TTC12 TGM1 PTPN22 ROR2 NECTIN1 PGM3 TNFRSF13B CCDC65 CFAP298 TBX1 CD79B CFAP300 GATA2 IGLL1 PRTN3 TAP2 TNFRSF13C DNAI1 FLII NXN DNAJB13 SPEF2 NSD2 CCDC40 ALMS1 ALOX12B ZMYND10 SULT2B1 TAF1 NIPAL4 TBL2 IRF6 LETM1 CCDC39 ARMC4 TTC25 TGDS DNAI2 ARVCF DRC1 ABCA12 TCF3 NEK10 PIK3R1 AGA RSPH3 LRRC6 CARMIL2 TNFSF12 DNAAF5 CCNO IQSEC2 CR2 BAZ1B TAPBP RUNX2 HYDIN DNAAF6 SEC24C NFKB2 AK2 CCDC114 CCDC103 LRRC56 DNAAF4 HLA-DPB1 ALOXE3 OCRL HLA-DPA1 LRRC8A TBX4 PRKCD GP1BB FGFR2 DNAAF3 GTF2IRD1 UFD1 LIPN SDR9C7 DNAH11 HP_THICKENED_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_HELICES SMS PIGY PIGS LZTR1 BMP2 RIT1 PTPN11 MAP2K1 PIGO TAF1 MRAS DYRK1A TCF4 CBL KRAS RRAS PIGL PPP1CB A2ML1 DIS3L2 FGFR2 BRAF RRAS2 RAF1 PIGW MAP2K2 RASA2 ADAMTSL2 PGAP3 RB1 SOS2 PGAP2 XYLT2 PBX1 NRAS SOS1 PIGV HP_LOP_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOP_EAR C12orf57 SEMA3E CHD7 COL5A1 CCNQ HP_PROMINENT_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_ANTIHELIX RBM10 GLI2 TRIO EVC SLC16A2 EVC2 AP4E1 HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT MARVELD2 GIPC3 IARS2 CDH23 ADCY1 IGF1 HGF ATP2B2 TIMM8A RIPOR2 HP_MACROTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTIA KMT2D POLR1A SHANK3 ASNS RAB3GAP1 LIMK1 PHF6 PHGDH PPP1CB KCNJ1 MASP1 MGP PTEN LSS ZBTB20 TBX22 ELN HERC1 HHAT RAB3GAP2 MED13L NIPBL ATP6V1B2 CBL SALL1 CLIC2 INSR KCNH1 FTSJ1 KIFBP SHOC2 WDR4 SLC6A17 PIEZO2 DYRK1A CHRNA1 CHRNA7 SLC9A6 KANSL1 NUP133 AEBP1 KIF1A GPR101 TP53RK FIBP DENND5A SMC3 ALDH18A1 TRMT10A KDM5C CHST14 CEP120 SLC12A6 MECP2 NUP107 DZIP1L MAN2B1 KRAS AIP TAZ EED BRAF PCLO RAD21 AP3D1 PIGN CASK APC2 NALCN MMACHC MBTPS2 TPRKB PSMB8 PRUNE1 KDM6B DSE CTU2 UBE2A SSR4 YME1L1 BRWD3 PTDSS1 SLC2A10 FAR1 NAA10 RAB18 MAP2K1 BAZ1B TAF1 TBC1D20 MPLKIP NDP UBA1 TOE1 SIN3A RBMX ALKBH8 FGFR2 PTCH1 NEXMIF RHOBTB2 SMC1A PMM2 COLEC11 GTF2IRD1 TRAPPC9 SLC2A1 TBC1D23 JAG1 SLC16A2 RFC2 ADAT3 MID2 ZIC2 GTF2I ZNF711 PKHD1 ALG3 ZNHIT3 DPF2 PPP1R15B IQSEC2 MAP2K2 KCNN3 THOC2 LMNA OPHN1 CLIP2 FMR1 NHS COLEC10 GRIA3 EZH2 SNAP29 ITGA3 TTI2 OSGEP TENM3 PQBP1 AKT1 NECTIN1 GRIA4 PAX1 GLI2 ANKRD11 OTUD6B MBTPS1 WDR73 TBL1XR1 PIK3R1 ADAMTSL1 CXorf56 ALG9 NSD1 SIM1 SETD5 PACS1 TRIO TRPS1 SET MGAT2 KDM6A PAK3 ATP6V1A TBL2 AHSG RMRP SUZ12 PRDX1 PHIP RDH11 HECW2 TBCD AGPAT2 KMT2A AP1S2 RPL10 NBN CWC27 BSCL2 EIF2S3 PGAP1 BMP4 PSAT1 EYA1 PYCR2 MAN1B1 TAPT1 FLNA ZMPSTE24 SETD2 ITGB6 NDE1 LAGE3 HDAC8 CIT HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL SALL4 FGFRL1 CTBP1 GNAI3 SIX1 CHN1 MAFB GMNN EDNRA MED12 EDN1 FGFR2 TBX15 SIX5 CPLX1 NSD2 EYA1 POR COL7A1 SOST LETM1 RPL26 PORCN B3GLCT MAF HP_RECURRENT_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_OTITIS_MEDIA KMT2D RNU4ATAC CD79A HYAL1 DRC1 ATN1 PSMD12 MGP BACH2 ADAT3 TP63 GAS8 CD19 FOXP1 DPF2 JAGN1 SRCAP KIF15 DHCR7 WDR26 UNC119 SETD2 CD79B ZMYND10 GAS2L2 FGFR3 CFI DNAAF5 LRBA TNFRSF13C HYDIN FCGR3A RELB BPTF SMARCD2 SRY CCDC40 LBR NAA10 RAC1 IDS IL17RA DNAI2 SDCCAG8 CD3E PCYT1A LRRC6 TNFRSF13B ICOS SH3KBP1 ZEB2 ZNF341 CR2 BCOR IL2RB ELN MAP3K7 MLXIPL KDM6A CD3G A2ML1 UBB CCDC65 POLR3A BMP4 ACP5 IL6ST CDH1 NFKB2 MSX1 COL2A1 ARMC4 CFAP298 TPP2 NECTIN1 CD3D TCF3 SLC35C1 CCDC114 ADA IGHM GNPTAB BLNK DLX4 GRHL3 FLNA CCDC151 SPAG1 RPL11 DNAAF1 USB1 DLG1 IRF6 ARHGAP29 HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT NLRP3 MT-TC ARSG IARS2 GJB2 GSDME ALMS1 MT-ND5 GFER MIR96 MYO6 MT-CYB MT-TS2 GRXCR1 MT-TQ POU3F4 MT-TK MT-TL1 MT-TV OPA1 MT-CO2 FGF3 MPZL2 MT-CO1 MT-TF MCM2 MT-TW MPZ MYH14 P2RX2 MT-ND6 ATP1A3 MT-CO3 GJB6 ACTG1 WFS1 TPRN MYO3A TIMM8A MT-ND1 SYNE4 GATA3 HP_MIXED_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HEARING_IMPAIRMENT FGFR3 CDH11 SEMA3E EYA1 CHD7 PAX1 COL11A2 RPS28 MAN2B1 FKBP14 AFF4 GJA1 SIX1 AMMECR1 FAM20C FGFR2 FLNB ANKH FGF10 GDF6 HOXA2 SGMS2 PORCN HP_PROTRUDING_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_EAR RPL10 CCDC8 SHANK3 SLC16A2 TET3 LIMK1 RFC2 MPLKIP INSR FRMD4A GTPBP2 SLC1A4 CHST14 LIG4 WNT7A EIF4A3 GTF2I FOXG1 PQBP1 ARX TBX22 LRP4 FGFR1 LARGE1 KIF11 ELN RPS6KA3 UPF3B ANKRD11 FKRP TPM2 CLTC CLIP2 ANTXR1 COL6A2 DSE B3GLCT GTF2H5 COL4A1 DPP6 CRPPA TP63 ALDH18A1 ERCC3 POMGNT2 MED12 FMR1 MYH3 CHRNA7 LGI4 TXNL4A INTS1 SCARF2 MBTPS2 TRPS1 RXYLT1 NECTIN1 SPEG PAX1 GJB4 ADNP NSUN2 TUBGCP4 OTUD6B GJB3 ERCC2 COL6A1 BIN1 NHS ERF GTF2E2 PYCR1 GJA1 PLK4 RNF113A CAMK2G OBSL1 POMK BLM TRAIP PACS1 NKAP DLX4 TARS1 EDNRA KCNK9 TNNT3 CUL7 TAF1 NEK1 TFAP2B FBXL4 KDM6A WDR19 SH3PXD2B TUBGCP6 KDM5C DAG1 ATP6V1A CLCF1 TBL2 KMT2D FAM20C COL6A3 KDSR MEGF8 SKI DHX37 POMGNT1 MBD5 TTN TUBGCP2 POMT2 B4GAT1 PRUNE1 APC HUWE1 PIEZO2 EXT1 KCTD1 PTPN11 FKTN AHDC1 BAZ1B FIBP B3GALNT2 TNNI2 FBN1 CAMTA1 RYR1 NDP AP1S2 BMP4 ZDHHC9 EYA1 NALCN PYCR2 DCAF17 OCRL BMP1 DOCK6 TBX4 MAB21L1 POMT1 WNT4 NR2F1 RB1 GTF2IRD1 SON FLNA COL3A1 HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL SETD5 EYA1 EFTUD2 NOTCH3 TSHZ1 POMT1 GLI3 TCOF1 FRAS1 TWIST2 FKRP FREM2 HOXA2 SNRPB SIX5 RAD21 ORC1 CDC45 LARGE1 CDC6 FGFR2 NIPBL KMT2A SIX1 RPS26 GMNN SF3B4 GSC ORC6 FKTN CDT1 FAT4 POMT2 PAX1 RPL11 ORC4 GRIP1 TP63 DCHS1 SMC1A HDAC8 TBC1D24 RPL26 SMC3 HP_BULBOUS_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBOUS_NOSE SMS PIGY CCDC8 CUL4B SHANK3 SMARCAL1 CCDC47 CAMTA1 SMARCD1 TMEM231 FMR1 ATN1 GJA5 NHEJ1 MRAS MYO18B SC5D KAT6B STAG2 SRD5A3 KIFBP FOXG1 TONSL SPRTN LMX1B ALG3 LTBP3 EXT2 SMC3 FBN1 KCNN3 MED12 MPDZ EXTL3 KIF15 TWIST2 BRAF RNU4ATAC COMT MED13L AP4M1 ECEL1 ATP6V1B2 AP4S1 CLIC2 KMT2B JMJD1C KCNH1 TCF20 PIGO CDC42 TBCK SLC25A46 DYRK1A COL11A2 AP4B1 KANSL1 HIRA PIGL ABCC9 INTS1 PQBP1 RREB1 STXBP1 AP4E1 ECE1 DGCR8 TRRAP COL1A2 TBX1 TBC1D24 SCYL2 SNIP1 DYNC1I2 PYCR1 SIM1 MMP2 PACS1 SRCAP ESS2 DLX4 TRPS1 YY1 DOCK7 CUL7 TAF1 ABCA5 ALDH6A1 ATP6V1A RUSC2 C2CD3 GJA8 PIGW UNC80 KCNJ2 DGCR2 CPT2 MBD5 PYCR2 ARVCF TUBGCP2 HECW2 EFEMP2 RERE DGCR6 HUWE1 EXT1 CCNQ OBSL1 USP9X SOX5 SLC35C1 WAC SEC24C RBMX FREM1 SLX4 KDM5B ACTL6B DOCK6 TBX4 ASXL3 PGAP3 GP1BB SATB2 UFD1 PGAP2 PIGV TBC1D23 CIT HP_ABNORMALITY_OF_THE_CHOANAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHOANAE FANCE POLR1A DHCR7 FANCM ERCC4 TCOF1 FANCL ARID1B RECQL4 ZMPSTE24 TWIST1 RFWD3 FGFR2 SETBP1 FGFR1 SPINT2 FOXH1 IGBP1 BRIP1 ZNF335 CRKL COMT POR CDON SHH NIPBL GLI3 POLR1D IRF6 SALL4 JMJD1C GLIS3 CHD7 ERF EFTUD2 DCHS1 TXNL4A NFIX HIRA BCR RAD51C SCARF2 BRCA2 RREB1 FOXE1 FRAS1 SEMA3E FANCF PTDSS1 POLR1C GLI2 TBX1 ITCH FGFR3 BRCA1 SMC3 CDH1 RERE ZIC2 SETD5 PTCH1 FANCG WNT3 MAD2L2 SLX4 MED12 FANCC PTPN14 SIX3 FAT4 GAS1 FAM20C NODAL FANCI RAD21 TCTN3 DHODH FANCD2 ARVCF MBTPS2 FANCA DISP1 PTH1R KMT2A TGIF1 MAPK1 SMCHD1 RPS26 USP9X LMNA XRCC2 CDC45 NBN SEC24C OFD1 SUFU FGF8 TP63 UBE2T DLL1 RPL11 GP1BB SMC1A HDAC8 UFD1 ANTXR1 PALB2 SOST FANCB TDGF1 RAD51 HP_NARROW_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_RIDGE ZMPSTE24 NRAS LMNA COL3A1 POLR3A PYCR1 ADAT3 WDR73 HRAS ALDH18A1 CEP55 HP_ABNORMALITY_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SEPTUM TFAP2A EP300 PTCH1 NECTIN1 NOG FLNB TGIF1 PAH CREBBP SIX3 TP63 ATP6V1B2 ARSL NF1 NONO RPS6KA3 MSX1 IRF6 HP_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISTAXIS FGA MYH9 GDF2 SBDS F7 ENG WIPF1 GGCX STAT5B MCFD2 PRKAR1A LMX1B PRKACG TET2 WAS FGB CTLA4 TERT NABP1 VWF IFNG ETV6 FGG PML GFI1B GP1BA F2 RASGRP2 F10 DTNBP1 FERMT3 NBEAL2 PRF1 STAT3 ITGB3 SMAD4 P2RY12 HPS5 ACVRL1 CYP11B2 GATA1 STXBP1 RUNX1 TBL1XR1 PTPN22 F5 GP9 BCOR ITGA2B ACTN1 TBXA2R EPOR PRTN3 HPS1 IRF2BP2 F8 HPS4 MYD88 LMAN1 GBA ZBTB16 FCGR2C GP1BB TERC NUMA1 SLFN14 RARA LYST F13A1 F11 FIP1L1 PLAU KCNJ5 BLOC1S3 CYP11B1 HLA-DPB1 CACNA1D HLA-DPA1 FYB1 MPL GP6 NPM1 STIM1 HPS6 F13B SRC JAK2 HP_ABNORMALITY_OF_THE_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_BRIDGE TWIST1 KMT2D FGFR3 SMARCAL1 CTBP1 GLI3 CLCN4 AMMECR1 KCNAB2 ARID1B PTEN REEP6 SOX9 KIAA1549 TCF4 GPC3 KISS1 CLP1 UPF3B KRAS COL2A1 TMEM138 CBL SPRY4 STAT3 TACR3 TTC37 BPNT2 FGF17 PUS7 LTBP3 ARHGEF6 KMT2A TGIF1 RDH12 HCCS PEX1 WDR35 COL11A2 DHPS MYH3 PTCH1 BPTF SEC23A RAF1 SRD5A3 B9D1 TRIM32 FGFR1 GJA1 ARX ORC6 HRAS RAI1 TFAP2A CEP57 KCNH1 PDGFRB PIGQ XRCC4 SLC7A14 INPP5E GATAD2B GNAS KIT CKAP2L EDNRA TCTN2 PEX12 PEX10 NEK1 MECP2 PTCH2 INSR MITF AGBL5 POMGNT1 GNRHR BCOR DVL1 INPPL1 WDR11 SMARCB1 BRAF BBS4 PAX3 SUFU AFF2 AGA RAD21 NFIX OFD1 CASK TSHB BEST1 RPS6KA3 ARL3 COL11A1 ATRX AKT3 WDR60 KDM6B KDM1A KLHL7 ARSB PEX7 BRF1 RAB23 VARS1 COG4 RAB18 TCTN1 CHD3 TBC1D20 TENT5A FBXL3 TOE1 GDF5 DICER1 FGF8 SALL4 FGFR2 ZSWIM6 EBP PIK3R2 ARL13B WNT5A NEXMIF ALX4 HSD17B4 MAGEL2 ANKH LTBP4 PMM2 CEP104 ARL6 GTF2IRD1 COG8 UFD1 LETM1 TDGF1 CDHR1 KIAA0586 SNORD115-1 AP4B1 PIGY RAC1 COL18A1 FLNB SMARCD1 CNGA1 DHDDS TRIO RAB3GAP1 GPC4 RNF13 TONSL DPF2 EP300 DIS3L2 LFNG SUMF1 ARMC9 NEK2 EXTL3 DEAF1 SIN3A SNRPN MAK CUL7 PDE4D CLIP2 ALX3 ERCC2 BBS2 COMT POR ACTG2 PIGP DOK7 GLIS3 FANCL MAFB DCHS1 C8orf37 DNMT3B HIRA BCR CEP41 TBCK IQSEC2 AKT1 CERKL CRIPT CPLX1 CREBBP OTUD6B TMEM94 MN1 GNAO1 UGP2 PREPL WDR34 ATP6V1B2 DUSP6 HBB ZNF41 EZH2 NALCN TBC1D24 EDARADD NSD2 FREM1 CHD7 FZD2 KCNK9 TNNT3 ARSL FGD1 GATA4 SH3PXD2B SYP VPS13B PRPF4 NODAL TALDO1 ACAN DYNC2H1 FBN1 KCNA1 TUB PEX13 SMARCE1 TTC8 SLC9A7 PIK3R1 KIAA1109 STRA6 NAA10 HECW2 PWRN1 PBX1 HUWE1 PIGT COL5A2 PIBF1 CILK1 ARID2 TNNI2 XYLT1 HIVEP2 HGSNAT IGF1R ALX1 PEPD FAT4 EYA1 PDHA1 NSMF SOS1 PRKAR1A TAPT1 NBN KDM5B DLL1 ATP6V0A2 ARHGEF18 IFT122 NR2F1 RP1 MED12 HDAC8 KISS1R PEX16 PDE6D CAMKMT ABCC9 RNU4ATAC DHCR7 NSDHL SNAP29 GPC6 BMPR1B GLUL ACSL4 MGP RTTN TUBB STXBP1 AIFM1 SLC1A4 STRADA TCTN3 EIF2AK3 RECQL4 MAPK8IP3 SNAI2 SETBP1 HES7 NUP188 GUCA1B PDE6G BRCA1 PGAP3 ZNF335 TPM2 AMER1 HCFC1 PRDM16 ERCC1 EDA HSPG2 BBS5 IDH3B PLOD1 FTSJ1 PUF60 GMNN IFT52 MEF2C HYOU1 CANT1 COLEC11 ATPAF2 TXNL4A RREB1 PDE6B TMEM237 PEX11B UBE3B LBR PAH TUBGCP4 WASHC5 SCN2A RSPRY1 PITX2 TRIM37 ACTB PRKDC PEX19 ALG9 SPATA7 NXN MKS1 TBCE SLC12A6 SEMA5A TMEM107 COG1 NFASC MAP3K7 HELLS RPS7 IFT57 ADGRG6 EED KAT6B PIGW ANOS1 RPGR CNKSR2 NF1 NEU1 DISP1 ERCC5 GNPAT LRP2 ADAT3 DVL3 FLNA PEX2 EEF1A2 TWIST2 BAZ1B CENPF ATIC CCBE1 UBA1 PTH1R WDPCP PIGO DYNC2LI1 SMOC1 ZDHHC9 TLK2 TBX4 TP63 GP1BB SOST RHOBTB2 NONO ACTG1 BBS12 PTCHD1 JAG1 HYAL1 PGAP2 SOX10 PCNT EYS LIG4 IFT27 RGR ZIC2 ERCC6 ALG3 SDCCAG8 SMC3 KYNU MAP2K2 PEX5 GNPTAB ESCO2 IGBP1 WDR26 IRX5 CRKL COL1A2 PIGL IFT81 BBS7 CDK13 SF3B4 CDCA7 HOXB1 PIGV TCOF1 ERF TAF6 RPS23 DPH1 SMC1A ALG13 FH RLIM ADAMTS3 GBA PACS2 PAK3 PRKD1 CTNND2 GLI2 CDC42 TMEM67 IDUA TBX1 DLL3 BBS1 CD96 USH2A FLII RP2 SETD5 FRMPD4 CCDC22 IFT172 PNKP SNORD116-1 MYOD1 DOCK7 KIF11 POGZ POU1F1 FAM161A EXT2 MGAT2 RPE65 CNTNAP2 EDNRB ALDH6A1 KDM5C ATP6V1A ACY1 NPHP1 DHCR24 DMD MAN1B1 LRAT GABRD PEX6 CDK10 SMARCA4 CSPP1 MERTK AHDC1 MUSK GNRH1 NOTCH3 AHI1 IARS2 KIF7 NDUFB11 BUB1B NFIB HYLS1 PIGG NDE1 GPRASP2 SCN1B ANTXR1 KDM6A B4GALT7 CRB1 ZNF81 SNX14 SMS NPR2 TMEM231 LIMK1 MRAS KIFBP PRPF6 FOXG1 CCNK SLC6A9 ELN FOXH1 STAG1 PWAR1 POLE MED13L PORCN MRPS14 POLR1A RAB39B KIF14 CLIC2 FGFRL1 FUT8 BMP2 NRAS RUNX2 ZNF408 RHOA SOX11 KANSL1 AP4E1 ROR2 HMGA2 POLR1D TRIP12 SPECC1L IL1RAPL1 RARS2 SHANK3 CACNA1C PLK4 SLC25A22 SMARCA2 MMP2 MTOR SRCAP VPS33A MYMK FLI1 AGL MAN2B1 SIX3 PIK3CA FRAS1 EDN3 GAS1 LMNA FAM20C PQBP1 CDKN1C MEGF8 MIR140 UNC80 CEP152 PIGN RPGRIP1L ARVCF CRX MID2 TRPV4 UQCC2 NDN MAPK1 EXT1 CTU2 HBA1 LRPPRC SKI RBP3 CNGB1 SLC18A3 ZNF513 MED13 B3GLCT CPLANE1 IFT140 TSPAN7 KAT6A TBX2 LEMD3 DCAF17 COL27A1 HERC1 TMEM216 ASXL3 MAF HS6ST1 ADAMTS2 CCND2 RBM10 RPL10 PEX14 SEPTIN9 RIPK4 RFC2 DMXL2 PSMD12 CDH11 FAR1 ADAMTS10 GTPBP2 KIZ METTL23 CC2D2A BBS10 MEIS2 PRPF8 RAB3GAP2 ZBTB24 PROKR2 ACOX1 BBS9 PTPN11 GPX4 KCNMA1 NHS MYCN SKIV2L JMJD1C TCF20 ZBTB18 TMEM70 CEP120 LZTFL1 ABCA4 GHR AUTS2 NELFA NECTIN1 NRL PAX1 NSUN2 FOXL2 POLR1C TRRAP DDR2 KIF22 PROM1 RYR1 DPM1 ZEB2 IMPDH1 SOX4 ZNF711 B3GAT3 ETFDH PRCD SIX2 SON SLC25A24 STX16 MKKS TUBGCP6 RMRP ARID1A SP7 CSNK2A1 CA4 GDI1 DDRGK1 PIK3C2A EFNB1 CDKL5 NR2E3 EFEMP2 PCARE SATB2 TRPS1 TFAP2B UMPS USP9X SOX5 INTU HDAC4 SEC24C PPM1B COL1A1 NEUROD2 DOCK6 RB1 CLRN1 AHR NUP88 RIPPLY2 TRMT1 CTSD NAGA SMARCC2 G6PC3 STAG2 IFT80 SPRTN SHROOM4 SLC26A2 PARS2 SMG9 COX7B CDON NIPBL GNE TOPORS GNS SCAPER TRIP11 ARL2BP CXorf56 INTS1 SCARF2 PROK2 ECE1 UBE2A SEMA3E ADNP LONP1 PEX26 NPAP1 MESP2 SHH CNOT1 P4HTM PRPF3 SHOX AP4S1 RERE ASXL1 NRXN1 GPAA1 KIAA0556 TAF1 RSRC1 ANK1 MLXIPL KIAA0753 FREM2 PCLO EDAR PIGA FGF3 PRMT7 MAP2K1 CHN1 WAC NDP SLC45A1 KCNJ6 TRIM8 ETFA SAG HERC2 SMO FBXO31 LARP7 RARB PSAT1 TRAPPC9 CEP290 PUM1 ZNF423 RAPSN CUL4B NOTCH2 CHST3 ETFB FAM149B1 SC5D GTF2I MID1 BMPER PAM16 DHX38 IDH3A TAC3 USP27X KCNE5 PIEZO2 RHO COG5 KREMEN1 RP9 SH2B1 BMPR1A TBX6 RLBP1 AGTR2 COL5A1 SLC3A1 FOXC1 ANKRD11 KCNJ8 GRIP1 MKRN3 BRPF1 CRLF1 ADAMTSL1 EBF3 SCYL2 WDR4 SIM1 OBSL1 PHF21A SET MARS2 DLG3 MAPRE2 PRPH2 ROM1 SIK1 WNT7A TBL2 RELN SEMA4A PEX3 TULP1 SNRNP200 IFT88 KCTD1 FSCN2 CCNQ BBIP1 SLC35A2 LINS1 IMPG2 SMAD4 PRPF31 KPTN SPATA5 PDE6A AP3B1 COL3A1 HBA2 SOX18 HP_PROMINENT_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_BRIDGE SMS TWIST1 NALCN PIGY PDGFRB NSDHL TMEM231 TMEM237 RTTN GPC4 TCTN3 KIFBP RECQL4 SPRTN TCF4 MAPK8IP3 UPF3B STAG1 BRCA1 HERC1 ZNF335 TMEM138 POLR1A SMC1A CLIC2 BBS5 HSPG2 MED12 NPHP1 COLEC11 CSPP1 DHPS ATPAF2 TXNL4A KANSL1 RREB1 SEC23A ECE1 B9D1 TRIM32 HMGA2 CC2D2A ORC6 RARS2 KAT6A XRCC4 MKS1 INPP5E HDAC8 TCTN2 TMEM67 NFASC KIAA0556 INSR IFT57 MITF EDN3 BCOR BBS4 AFF2 UNC80 CEP152 CASK RPGRIP1L ARVCF ARL3 CKAP2L MAPK1 EBP SPECC1L ASXL3 TCTN1 MED13 CEP120 CENPF ATIC CPLANE1 SIN3A SF3B4 LEMD3 WDPCP DCAF17 AHI1 ARL13B TMEM216 ZDHHC9 NEXMIF ALX4 TLK2 GP1BB NONO CEP104 UFD1 BBS12 CEP290 KIAA0586 ZNF423 ERCC1 PIGV RAC1 SOX10 PCNT FAM149B1 CEP41 IFT27 BBS10 SDCCAG8 MEIS2 SMC3 RAB3GAP2 ARMC9 BBS9 IGBP1 FGFR3 CRKL COMT BBS2 ACTG2 NHS FGFR2 BBS7 SH2B1 JMJD1C KIF7 PIGO SNAP29 TAF6 KIAA0753 LZTFL1 ERCC6 KAT6B RLIM HIRA PIGL BCR TBCK VPS13B PRKD1 ANKRD11 OTUD6B TRRAP TBX1 BBS1 EBF3 PAX3 SIM1 PHF21A DOCK7 EXT2 MGAT2 MKKS GATA4 EDNRB KDM5C FBN1 C8orf37 PIGW RELN ARX ARL6 SATB2 PIBF1 BBIP1 OFD1 SEC24C HIVEP2 NSUN2 SMAD4 IFT172 NBN KDM5B PGAP3 HYLS1 NR2F1 PMM2 RB1 NDE1 PGAP2 PDE6D TP63 SOX18 TTC8 HP_ABNORMALITY_OF_THE_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_ALAE CAMTA1 CLCN4 FRMD4A KRAS AMMECR1 ARID1B PTEN REEP6 KIAA1549 TCF4 GPC3 CLP1 CC2D2A ATRX ADSL TMEM138 MED25 LTBP3 GJA1 ARHGEF6 ADAMTS18 SHOC2 RDH12 COL11A2 NFIX EXT1 DGCR8 B9D1 MED12 FGFR1 ARX DYNC1I2 HRAS TBX1 SETBP1 RAI1 TFAP2A PTCH1 KCNH1 PIGQ XRCC4 ESS2 SLC7A14 INPP5E GATAD2B HDAC8 CKAP2L ESCO2 TCTN2 PEX12 INSR OCLN MITF AGBL5 DVL1 INPPL1 SMARCB1 BRAF AGA RAD21 CASK BEST1 SLC26A2 RPS6KA3 ARL3 COL11A1 TRIP11 KDM1A DGCR6 BRF1 RAB18 TCTN1 DOCK3 TAF1 TBC1D20 MPLKIP ABCC8 CCDC8 OFD1 NTNG1 FGF8 SALL4 FGFR2 ARL13B WNT5A NEXMIF ALX4 CEP104 ARL6 TDGF1 CDHR1 KIAA0586 SH3PXD2B PIGY RAC1 FLNB CNGA1 DHDDS TRIO GPC4 TONSL LFNG SUMF1 ALG13 ARMC9 NEK2 ANKRD11 EXTL3 DEAF1 SIN3A MAK CUL7 PDE4D ALX3 BBS2 ACTG2 PIGP EFTUD2 MAFB C8orf37 ATP6V0A2 DNMT3B BCR CEP41 TBCK IQSEC2 AKT1 RNF125 CERKL CRIPT TMEM94 MN1 GNAO1 LMBR1 ATP6V1B2 ZNF41 COG6 RERE NALCN TBC1D24 KCNK9 DDB2 FGD1 PPP2R1A SYP PRPF4 NODAL KCNA1 TUB MYH3 TTC8 DGCR2 SLC9A7 KIAA1109 NAA10 HECW2 PBX1 KMT2A PIGN PIGT PIBF1 PLEC NOG HGSNAT EIF2S3 ALX1 EYA1 PDHA1 KIAA0556 PRKAR1A TAPT1 ERCC4 DLL1 ARHGEF18 IFT122 NR2F1 PMM2 RP1 COL2A1 PEX16 PDE6D ABCC9 SOX4 RNU4ATAC DHCR7 RAB3GAP1 ACSL4 MYO18B MGP SC5D STXBP1 AIFM1 TCTN3 NF1 RECQL4 GPC6 MAPK8IP3 HES7 ERCC5 GUCA1B PDE6G BRCA1 PGAP3 QRICH1 CPLANE1 HCFC1 FZD2 MEF2C ADAMTS3 EDA IDH3B GMNN CANT1 TXNL4A PEX13 LAS1L PDE6B PEX11B UBE3B BMP2 PAH TUBGCP4 NACC1 SCN2A ACTB PEX1 SPATA7 TRMT10A NXN COG1 MAP3K7 ADGRG6 MECP2 PPP2R3C BCOR RPGR CNKSR2 DISP1 GNPAT DVL3 PEX2 PAFAH1B1 ATIC DOCK7 PTH1R FBN1 MKS1 PIGO EXOSC2 TLK2 UBR1 PTCHD1 CERT1 CRLF1 PGAP2 SOX10 PCNT EYS SLC17A5 TP63 RGR TWIST1 WDR19 CENPJ ERCC3 YWHAE PAX3 SMC3 MAP2K2 APC KIF15 PEX5 WDR26 IRX5 CRKL FAM20C SEC23A ECEL1 INS HOXB1 KLHL7 PIGV ERF TAF6 IFT43 FH GBA PUF60 DIS3L2 TRPS1 PAK3 CDC42 TMEM67 DLL3 CD96 ALG9 USH2A FLII RP2 RPGRIP1L SETD5 FRMPD4 IFT172 PNKP PRPS1 KIF11 POGZ POU1F1 GLI3 TFAP2B FAM161A EXT2 RPE65 PPP2CA EDNRB ASXL2 CTCF HIC1 DHCR24 DHX37 DMD PHIP LRAT CDK10 SMARCA4 ATP6V1E1 MERTK AHI1 BPTF POMGNT1 ZSWIM6 BUB1B NFIB MAB21L1 HYLS1 SETD2 SCN1B ANTXR1 TBL1XR1 CRB1 ZNF81 PPM1D SMS TMEM231 KLHL15 WDR35 AFF4 PRPF6 KCNJ11 CCNK SLC6A9 FOXH1 TWIST2 PORCN SMC1A RAB39B KIF14 CDKL5 ZNF408 XPC RHOA PIEZO2 KIF1A ROR2 IL1RAPL1 PLK4 SLC25A22 SMARCA2 SRCAP WDR4 MYMK ZC4H2 LRP2 FLI1 AGL SIX3 FRAS1 EDN3 GAS1 MEGF8 SKI MIR140 UNC80 MCTP2 SOX11 CRX MID2 TGIF1 MAPK1 GCK LRPPRC RBP3 CNGB1 HNRNPH2 ZNF513 B3GLCT IFT140 TSPAN7 KAT6A GNPTAB TBX2 TMEM216 ASXL3 HNRNPK KPTN TMEM237 RBM10 FREM2 PEX19 DMXL2 CDH11 KIZ CCNQ ZNHIT3 PRPF8 FOXP1 ZBTB24 PEX6 MYCN TMEM70 CEP120 SLC25A46 ABCA4 FGF3 AUTS2 NRL PAX1 TRRAP NFIA KIF22 PROM1 PIK3R1 IDUA EHMT1 PHF8 IMPDH1 ZNF711 PRCD SIX2 ELN ABCA5 KDM6A TUBGCP6 RMRP CSNK2A1 CA4 GDI1 POLR3A PYCR2 NSD1 NR2E3 KCNJ6 ERCC2 PCARE SATB2 USP9X HDAC4 NGLY1 NEUROD2 NSUN2 FTO PRMT7 CLRN1 AHR SMARCC2 RIPPLY2 IGF1R PPP1CB ARID1A PTPRF FTSJ1 UPF3B PARS2 SMG9 RAB3GAP2 CLCF1 CDON NIPBL TOPORS GNS SCAPER NPHP1 CSPP1 ARL2BP CXorf56 SCARF2 PEX10 LONP1 SNX14 MESP2 RIPK4 PRPF3 FAM149B1 FIG4 ZIC2 AIMP2 TTC37 CTNNB1 GPAA1 MLXIPL KIAA0753 GABBR2 APC2 PIGA UBE2A OBSL1 MAP2K1 CHN1 PEX26 TRIM8 SAG IER3IP1 RARB ADAMTSL2 PLOD3 RIC1 ZNF423 ADNP NOTCH2 NRAS ATP6V1A SMOC1 PEX14 FGFR3 MID1 XPA IFT52 PAM16 DHX38 IDH3A USP27X PPP1R15B KCNE5 RHO SHH RP9 KIF7 TBX6 RLBP1 AGTR2 CEP290 KCNJ8 GRIP1 GLI2 ORC4 EBF3 XYLT1 PDX1 DPYD PHF21A MARS2 DLG3 SMARCE1 PRPH2 ROM1 SIK1 RNF135 RBM8A SEMA4A PEX3 RDH11 TULP1 SNRNP200 IFT88 VAC14 KCTD1 FSCN2 CWC27 IMPG2 SUFU PRPF31 SPATA5 PDE6A ARID2 HP_UNDERDEVELOPED_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_NASAL_ALAE FREM2 RNU4ATAC FLNB TRIO SOX10 MYO18B PCNT GJA1 TP63 RECQL4 TWIST1 TWIST2 CENPJ ALX1 PAX3 CLP1 OFD1 STXBP1 SIN3A MYH3 ESCO2 CRKL EDA GMNN TAF6 NFIX LMBR1 TXNL4A BCR SCARF2 TRPS1 DGCR8 FRAS1 ANKRD11 GRIP1 ORC4 ATP6V1B2 PIK3R1 RIPK4 ALG9 TBX1 NALCN MGP SRCAP PHF21A ESS2 CTNNB1 PRPS1 CKAP2L EXT2 ALX4 CDKL5 MITF EDN3 EDNRB MECP2 PPP2R3C SOX11 DGCR2 GABBR2 RDH11 NAA10 KCNJ6 FGF3 DGCR6 MAPK1 UBE2A PLEC NOG HNRNPH2 HDAC4 UBR1 CWC27 NSUN2 NTNG1 NEXMIF ASXL3 HNRNPK SPATA5 HP_WIDE_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_BRIDGE SNX14 KMT2D PIGY CTBP1 LIMK1 B4GALT7 KCNAB2 FBN1 KIFBP REEP6 PRPF6 KIAA1549 CCNK GPC3 LIG4 CLP1 ELN ARID1B MED12 NXN MYH3 TWIST2 MED13L POLR1A KIF14 STAT3 TTC37 FGFRL1 FUT8 BPNT2 PUS7 BMP2 LTBP3 KMT2A NRAS RDH12 HCCS PEX1 ZNF408 PTCH1 RHOA SOX11 BPTF AP4E1 ZSWIM6 PEX6 ROR2 DCHS1 POLR1D SPECC1L SHANK3 PLK4 RAI1 KCNH1 PDGFRB FGD1 SRCAP VPS33A SLC7A14 KIT CKAP2L EDNRA PEX12 PEX10 FLI1 NEK1 GPC4 PTCH2 MITF AGBL5 FRAS1 EDN3 DVL1 LMNA PQBP1 SUFU MEGF8 PITX2 OFD1 CASK ARVCF BEST1 CRX ATRX COG1 KDM6B KDM1A KLHL7 EXT1 HBA1 BRF1 LRPPRC IQSEC2 SKI RBP3 CNGB1 RAB18 ZNF513 MED13 CHD3 TBC1D20 TENT5A IFT140 FBXL3 TOE1 SALL4 COL27A1 WNT5A MAF ANKH LTBP4 ARL6 GTF2IRD1 UFD1 LETM1 SOST CDHR1 PIGV RAD21 AP4B1 RBM10 RPL10 PEX14 FLNB CNGA1 PEX19 DHDDS RFC2 PSMD12 CDH11 KIZ RAF1 XRCC4 PRPF8 EP300 DIS3L2 NSD2 NEK2 FRMPD4 DEAF1 PTPN11 SIN3A MAK PDE4D CLIP2 ALX3 ERCC2 BBS2 COMT KCNMA1 MYCN SKIV2L JMJD1C FANCL TMEM70 MAFB ABCA4 C8orf37 PEX5 AUTS2 HIRA NELFA DVL3 NECTIN1 CERKL NRL CPLX1 CREBBP OTUD6B FOXL2 TMEM94 POLR1C TRRAP PROM1 ATP6V1B2 PIK3R1 RYR1 WDR35 NALCN ZEB2 IMPDH1 TBC1D24 SOX4 FREM1 PRCD TNNT3 SON GATA4 FLNA FAT4 SH3PXD2B TUBGCP6 PRPF4 RMRP ARID1A CSNK2A1 CA4 TUB BRAF PIK3C2A PEX13 SMARCE1 TTC8 SETD5 EFNB1 STRA6 NR2E3 TBX1 NAA10 CCBE1 PBX1 AGA ARX PCARE TRPS1 COL5A2 CILK1 UMPS USP9X ARID2 SOX5 TNNI2 ALX4 SEC24C HIVEP2 HGSNAT NSUN2 IGF1R ALX1 PDHA1 PRKAR1A TAPT1 ATP6V0A2 ARHGEF18 IFT122 PEX2 RP1 RB1 CLRN1 AHR PGAP2 PEX16 TP63 AMER1 ABCC9 DHCR7 RAB3GAP1 SNAP29 GPC6 TRMT1 CTSD GLUL RTTN SMARCC2 G6PC3 STAG2 SLC1A4 STRADA KRAS SNAI2 SMARCD1 NUP188 GUCA1B PARS2 PDE6G TFAP2A PGAP3 SMG9 TPM2 COX7B RAB3GAP2 GNE PRDM16 ERCC1 FZD2 TOPORS HSPG2 IDH3B PUF60 TBCK IFT52 HYOU1 SCAPER COLEC11 ARL2BP INTS1 RREB1 COL11A1 PDE6B PEX11B PEX26 PAH TUBGCP4 PRPF3 TRIM37 ACOX1 ACTB GLI3 PRKDC SPATA7 SHOX AP4S1 SLC12A6 SEMA5A RERE ASXL1 GPAA1 NFASC MAP3K7 RSRC1 RPS7 IFT57 GJA1 KIAA0753 SMARCB1 FREM2 EED PIGW RPGR PIGN NEU1 FGF3 ERCC5 GNPAT PRMT7 CHN1 BAZ1B CENPF SMARCA4 UBA1 AHI1 SAG PIGO FBXO31 LARP7 RARB GP1BB TCF4 ACTG1 TRAPPC9 PUM1 DPF2 ADNP NOTCH2 SOX10 PCNT EYS SC5D SRD5A3 RGR GTF2I TWIST1 MID1 ERCC6 ALG3 PAX3 DHX38 IDH3A PIGT GATAD2B UNC80 ESCO2 PIEZO2 IRX5 RHO COG5 PIGL SEC23A KREMEN1 RP9 CDK13 CDC42 TCOF1 TBX6 TXNL4A RLBP1 SMC1A RLIM ADAMTS3 PACS2 COL5A1 CTNND2 FOXC1 KCNJ8 GRIP1 BRPF1 ADAMTSL1 CD96 USH2A WASHC5 FLII RP2 CCDC22 IFT172 FGFR1 SET KIF11 MARS2 FAM161A COL1A1 RPE65 PRPH2 EDNRB ROM1 ATP6V1A WNT7A TBL2 ACY1 SEMA4A PEX3 ARL3 MAN1B1 LRAT GABRD TULP1 SNRNP200 IFT88 CDK10 FSCN2 CCNQ MERTK SLC35A2 IMPG2 POMGNT1 KIF7 IDUA NDUFB11 PRPF31 KPTN GPRASP2 KDM6A PDE6A CRB1 AP3B1 HBA2 SOX18 HP_ABNORMALITY_OF_THE_NASAL_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_MUCOSA DNAJB13 RSPH1 SPEF2 CCDC40 SPAG1 TAP1 FOXJ1 MCIDAS ZMYND10 ENG GAS2L2 STK11 DNAH1 CCDC151 CCDC39 ARMC4 DNAAF3 DNAL1 TTC25 DNAAF2 DNAI2 DRC1 NEK10 CFAP221 RSPH3 LRRC6 DNAAF1 DNAI1 DNAAF5 CCNO RPGR RSPH9 STK36 PTGER2 DNAH9 TAPBP HLA-DRB1 HYDIN DNAAF6 OFD1 RSPH4A DNAH5 CCDC114 CCDC103 LRRC56 DNAAF4 NME8 GAS8 BTNL2 TTC12 ACVRL1 CCDC65 CFAP298 ECM1 CFAP300 TBX21 TAP2 DNAH11 HP_ABNORMALITY_OF_THE_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_TIP SMS CCDC8 KMT2D IGF1R SHANK3 PIGY SMARCAL1 CCDC47 CAMTA1 TMEM231 FMR1 GJA5 CLCN4 NHEJ1 PTPRF MRAS MYO18B SC5D KAT6B STAG2 TCTN3 KIFBP ARID1B FOXG1 SPRTN FTSJ1 LMBR1 TCF4 CCNK LTBP3 KIF11 UPF3B MED12 NXN TFAP2A PGAP3 TWIST2 QRICH1 MED13L PORCN CPLANE1 MED25 ATP6V1B2 HRAS RAB39B HCFC1 CLIC2 KMT2B KCNH1 ARHGEF6 KMT2A ADAMTS18 TGIF1 TBCK DYRK1A COL11A2 COLEC11 CHRNA7 CXorf56 AUTS2 KANSL1 ABCC9 INTS1 RREB1 LAS1L AP4E1 ZSWIM6 ECE1 DGCR8 AP4M1 WDR26 NACC1 ARX PHF8 RAB3GAP2 IL1RAPL1 SNIP1 DYNC1I2 TBX1 SETBP1 KAT6A MMP2 XRCC4 SRCAP AP4S1 ESS2 HSPA9 GATAD2B CTNNB1 DLX4 HDAC8 MYMK YY1 LRP2 TAF1 AGL MLXIPL BCOR RUSC2 C2CD3 PQBP1 FREM1 UNC80 MCTP2 KCNJ2 CASK MBD5 CNKSR2 ARVCF FLCN RPS6KA3 MID2 ATRX AIFM1 RERE DGCR6 PRMT7 EXT1 OBSL1 ASXL3 COG4 ATP6V0A2 EXTL3 WAC DOCK7 KCNJ6 EXT2 TSPAN7 FBN1 RBMX TBX2 SHH MECP2 PIGO PTCH1 EXOSC2 ACTL6B ALX4 TLK2 TBX4 RARB GP1BB ACTG1 KPTN UFD1 PIGV GPAA1 SH3PXD2B AP4B1 TBC1D23 ADNP PTCHD1 ACSL4 CUL4B NRAS SMARCD1 PGAP2 ATP6V1A ATN1 FAM149B1 SRD5A3 SYT1 TONSL LMX1B CCNQ ALG3 FOXP1 SMC3 USP27X KCNN3 APC MPDZ MUSK KIF15 PDE4D LMNA BRAF RNU4ATAC ALX3 POGZ COMT ECEL1 MYCN JMJD1C TCF20 KIF7 CDC42 SLC25A46 KIAA0753 PCGF2 ALG13 AGTR2 HIRA PIGL PUF60 IQSEC2 STXBP1 PAK3 TRRAP KDM1A COL1A2 TBC1D24 ZNF41 EBF3 SCYL2 PYCR1 COG6 SIM1 ZEB2 IDUA EPG5 CDH11 FRMPD4 MAP3K7 PACS1 DPYD PHF21A ZNF711 TRPS1 SIX2 ELN FZD2 KCNK9 FLNA CUL7 DLG3 TFAP2B ABCA5 PPP2CA KDM6A SYP ALDH6A1 ASXL2 RNF135 CTCF TMEM216 ATP6V1E1 GJA8 FLNB GDI1 PIGW DMD DGCR2 CPT2 SLC9A7 PYCR2 PRKAR1A TUBGCP2 HECW2 EFEMP2 HUWE1 CDK10 EFNB1 CILK1 USP9X SOX5 OFD1 SLC35C1 SEC24C EIF2S3 BPTF CENPJ TP63 ZMPSTE24 SLX4 KDM5B DOCK6 SATB2 TBL1XR1 ACTB PDE6D ARID2 ZNF81 CIT HP_DEPRESSED_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_TIP TP63 MYCN KMT2D EPG5 PTCH1 CILK1 PHF21A ALX4 KMT2A TGIF1 MUSK TAF1 COLEC11 ACTG1 FLNA EXT2 ACTB KDM6A EIF2S3 TBX2 SHH LMBR1 HP_CONVEX_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONVEX_NASAL_RIDGE TWIST1 TRAIP XRCC4 CTBP1 C12orf57 TBCE NHEJ1 DONSON PEX1 CEP152 GRIP1 SLC2A10 SLC25A24 PLK4 WRN COL1A1 ERCC2 MEIS2 FGFR2 POLD1 LRP4 RMRP RBBP8 EP300 PPP2R3C NUP188 ERF NSD2 POLR3A ERCC4 FGFR3 ATRIP EFEMP2 APC ATR KLHL7 COG4 SATB2 PTF1A FGFRL1 BANF1 PCNT RNASEH2A UBR1 COL1A2 CENPJ ZMPSTE24 ASPH RUNX2 ASXL1 PEPD MBTPS2 VPS13B COL3A1 NBN CPLX1 DNA2 CREBBP LMNA LETM1 ATP7A ALG9 CENPE HP_WIDE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NOSE NOTCH2 CRLF1 CAMTA1 CEP57 YWHAE ARID1A INSR PAFAH1B1 IFT80 LMX1B PAM16 COG7 PTEN PPP1R15B RPS6KA3 KCNN3 DVL1 STXBP1 SIN3A MOGS COX7B QRICH1 CLCF1 ATP6V1B2 FUCA1 FZD2 KCNH1 KMT2A TBX1 ADAMTS18 HCCS SKIV2L GPC4 WDR35 ACY1 KAT6B ASPH NANS TRMT10A SEC23A DVL3 RNF125 FRAS1 HMGA2 TRIP13 GPR101 IDUA KIF22 WDR34 TMCO1 ALG12 BUB1B OFD1 OTUD6B ZNF341 MGP AVP TTC37 VPS33A KIF11 STAT3 WNT5A FGFR1 GRIP1 SMARCE1 CDKL5 AIP CHD8 WDR60 SMARCB1 MECP2 DYNC2H1 TCTN3 BUB3 GABBR2 CKAP2L BUB1 FHL1 DONSON SMARCA4 GDF5 RAI1 NTNG1 STAMBP LEMD3 MAN1B1 NDUFB11 LARP7 PIGG ACTG1 TBL1XR1 ACTB HP_NARROW_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_BRIDGE MMP2 PORCN PTCH1 RNU4ATAC BMPR1B SNORD116-1 KCNK9 GJA1 SIX3 RNF13 GAS1 RECQL4 NODAL PAX3 FOXH1 SNRPN PWAR1 DISP1 PWRN1 CDON SHH TGIF1 NDN COG4 NDP KCNJ6 SUFU GDF5 SMARCA2 FGF8 HERC2 DLL1 NFIB NPAP1 MKRN3 MAGEL2 GLI2 NONO TDGF1 SNORD115-1 FGFR1 COL3A1 MED12 ZIC2 HP_PROMINENT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NOSE BLM TBC1D24 SRCAP CEP120 AP4S1 PEX3 PCNT CTSK KAT6B MED12 ADAT3 STAG2 PEX19 NONO RBBP8 TAB2 EIF4A3 RUSC2 PLAGL1 PSMD12 UNC80 APC2 NIN MBD5 EMG1 PDE4D MAN1B1 RNU4ATAC PSMB8 QRICH1 ATR COG5 FHL1 FGF3 PLK4 LIG4 NHS CENPE USP9X INTU EXTL3 TAF6 CHD3 ITGA3 GPC4 TTI2 NFIX ACER3 NSUN2 ASPH FBXL3 BPTF RLIM HYMAI CUL4B BCL11B SPART DCAF17 NBN EP300 STIM1 PMM2 LMBR1 ACTG1 ACTB DYNC1I2 DENND5A WDR73 CLTCL1 AP1S2 POC1A HP_CHOANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOANAL_STENOSIS FAM20C SALL4 FRAS1 SETBP1 PTDSS1 POR NFIX DCHS1 FGFR2 SOST PTH1R TXNL4A FGFR1 RECQL4 FAT4 SCARF2 POLR1D HP_FLARED_NOSTRILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_NOSTRILS CDC42 USP9X SMOC1 SIN3A PDHA1 HP_BROAD_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NASAL_TIP PTCHD1 ACSL4 IGF1R NRAS PGAP2 ATP6V1A CLCN4 PTPRF FAM149B1 TCTN3 ARID1B CCNQ LAS1L FTSJ1 FOXP1 CCNK USP27X KIF11 UPF3B APC NXN TFAP2A PGAP3 GATAD2B ALX3 QRICH1 POGZ PORCN CPLANE1 HRAS RAB39B HCFC1 KIF7 ARHGEF6 ADAMTS18 PIGV KIAA0753 ALG13 ATP6V0A2 CXorf56 AGTR2 PUF60 IQSEC2 ZSWIM6 PAK3 NACC1 ARX TBC1D24 PHF8 ZNF41 RAB3GAP2 EBF3 IL1RAPL1 SETBP1 COG6 KAT6A IDUA CDH11 FRMPD4 MAP3K7 XRCC4 DPYD PHF21A CTNNB1 ZNF711 HDAC8 MYMK SIX2 DOCK7 ELN LRP2 KCNK9 TAF1 DLG3 TFAP2B AGL EXT2 PPP2CA MLXIPL KDM6A SYP ASXL2 RNF135 CTCF TMEM216 ATP6V1E1 FLNB GDI1 MCTP2 BCOR DMD CASK SLC9A7 CNKSR2 PRKAR1A RPS6KA3 MID2 AIFM1 PRMT7 CDK10 ASXL3 EXTL3 OFD1 EIF2S3 BPTF TSPAN7 TBX2 ATRX MECP2 PIGO EXOSC2 USP9X ALX4 TLK2 RARB KPTN MED12 TBL1XR1 PDE6D ARID2 ZNF81 GPAA1 SH3PXD2B ADNP HP_BIFID_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NASAL_TIP FZD2 ALX4 ZSWIM6 EFNB1 ALX3 ATP6V1B2 FREM1 HSPA9 BCOR CENPJ HP_DEPRESSED_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_RIDGE CEP57 KDF1 RPS15A RPS24 SMARCC2 GATA1 EDAR CHRNG KCNAB2 FGF20 EDARADD PKHD1 BMPER PSAT1 SMARCD1 EDA2R PAX3 MYH3 RPL5 CEP55 B9D2 PDE4D PIGL ATRX WDPCP FAM20C RPS26 GLI3 PROP1 RPL18 PRDM16 GLB1 HSPG2 HESX1 TBX1 RPS27 RPS7 SNAP29 GMNN RPL26 CC2D2A RPS29 GHR TSR2 SOX11 GLI2 TRAF6 MN1 TRIP13 HDAC6 COL11A2 LMBR1 FOXA2 TMEM216 RPS10 TCTN2 BUB1B CSPP1 NALCN CHRNA1 ADA2 CHRND TTC37 RPGRIP1 SOX4 HSPA9 RERE DZIP1L RPS17 MAN2B1 SMARCB1 RMRP ARID1A PEX12 PEPD LHX4 RPL35 TCTN3 BUB3 SMARCE1 CEP290 APC2 GREB1L RPS28 EFNB1 NSD1 GABRD RPL35A BUB1 B9D1 RPL11 SOX3 PTPN11 SKI ITGA8 RPL31 RPL15 PHGDH TFAP2B MKS1 TWIST2 ARID2 OTX2 ALX4 TMEM67 TMEM231 ABCA12 SMARCA4 RPS19 RPGRIP1L SOX9 TMEM107 PRKAR1A EDA RPL27 PRMT7 SETD2 RET POU1F1 DPF2 ARID1B HP_ANOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOSMIA PROKR2 SMCHD1 SEMA3E ARNT2 SOX3 CHD7 PROK2 NSMF PHYH ARSL ANK1 ADCY3 FGFR1 DCC FGF17 OTX2 SOX10 SEMA3A PEX7 SHH ANOS1 TACR3 HESX1 KISS1R FGF8 DNAI1 WDR11 TAC3 KISS1 FLRT3 ATP13A2 IL17RD CCDC141 HS6ST1 SOX2 GNRH1 SCN9A FEZF1 SPRY4 DUSP6 MFN2 HP_NARROW_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NOSE POLE FGFR2 RNU4ATAC TWIST1 ABL1 GJA1 PDGFRB TRRAP HYOU1 ACP5 SATB2 EYA1 TP63 SCARF2 CCNQ FBN1 SIM1 HP_ABNORMALITY_OF_THE_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NECK SMS SHOX GLE1 PIGY NKX2-1 SMARCAL1 CTBP1 LIMK1 MYH3 MINPP1 NEK9 KIF7 KCNAB2 RPS28 PAFAH1B1 INPPL1 TRAPPC2 FBN2 KIFBP PTEN LMNA SOX9 TCF4 DRD2 AMMECR1 COG7 GPC3 RRAS2 SIX5 GCH1 ELN FLNB RPS10 KRAS MESP2 MED13L MAPT SIX1 PSEN1 ATP6V1B2 SMC1A COL2A1 CBL CHRNG KMT2B FGFRL1 KCNH1 CHD7 HABP2 NRAS SHOC2 IFT43 CP PEX1 COL11A2 CHMP2B TRPV4 KCTD17 NEB BPTF AEBP1 RAF1 TBX15 PIEZO2 TGM6 FHL1 PEX6 TRIM32 ATP1A3 ROR2 FGFR1 LIPE POLR1D COL6A2 HRAS KMT2A SETBP1 SLC35A2 GNAS TFAP2A MRPS16 SEMA3E FGD1 SRCAP TOR1A EYA1 CHRND VPS33A RAB33B HSPA9 BCOR RMRP COL6A1 ZC4H2 MRAS PEX10 FLI1 ESCO2 MAN2B1 GPC4 PTCH2 DVL1 MYF5 FAM20C C2CD3 COL6A3 BRAF BBS4 GRN SUFU SNRPB MEGF8 MIR140 RAD21 UNC80 MCTP2 ARVCF SLC26A2 EXOSC9 GABRG2 ATRX KIAA0586 TRIP11 COG1 ROBO3 ANO3 GZF1 TBR1 PEX12 MAPK1 SELENON FANCI HBA1 DONSON BRF1 PTPN11 SKI RAB23 SLC35D1 SLC18A3 TBP TAF1 CCDC8 B3GLCT TBX2 SALL4 HERC1 EBP MEOX1 WNT5A TUBB4A TECPR2 HNRNPK GTF2IRD1 UFD1 SOS2 SLC2A1 LETM1 XYLT2 PIGV NUP88 GPKOW SGCE DLL3 PEX14 SMARCD1 RFC2 PSMD12 NOTCH3 RAB3GAP1 PPP2R5D BBS10 EP300 LFNG NSD2 BBS9 MAP2K2 CUL7 PNKD CLIP2 ERCC2 COMT GPX4 BBS2 EMD DOK7 GLB1 JMJD1C MECP2 NFIX TPM2 FANCL COL12A1 MAFB ATP13A2 ENPP1 LZTFL1 PCGF2 NANS HIRA BCR TRMT10A DKK1 AKT1 CEP55 STXBP1 NELFA DVL3 SRY CPLX1 NAA10 CREBBP OTUD6B IDS ATN1 POLR1C DCC DDR2 KIF22 ATP7A SOS1 UNC93B1 DYM WDR35 IDUA PHF8 BMPER CDH11 PCDH19 SLC35A1 TMCO1 GNPTG MKS1 B3GAT3 TNNT3 ZMPSTE24 SYNGAP1 MED12 SLC25A24 NBAS STX16 MKKS GATA4 PRKRA SCN9A KCNC3 TALDO1 ACAN DDRGK1 PIK3C2A PEX13 RAB3GAP2 PIEZO1 KIAA1109 EFNB1 LHX3 TBX1 HPCA CFL2 HUWE1 ARL6 RPS26 ABCC6 PIGN PIGS RIT1 TREM2 GNAL INTU HDAC4 TNNI2 XYLT1 GDAP2 SEC24C CCDC22 IGF1R PGAP1 PEPD TMEM106B NALCN PTCH1 TAPT1 NBN FTO ALG8 NOG PRMT7 PEX2 RB1 SCN2A HDAC8 PGAP2 SCN1B TTC8 ABCC9 C9orf72 RIPPLY2 LIFR RSPRY1 DHCR7 KLHL41 GPC6 PHGDH ACTA1 PPP1CB YWHAE MYO18B TUBB PEX16 GDF6 A2ML1 PSAT1 HES7 NUP188 TGFB2 PPARG GUSB RNU4ATAC B3GALT6 AMER1 NIPBL GNE TUBB3 PRDM16 LMOD3 ERCC1 MRPS22 FZD2 BBS5 PUF60 HSPG2 RFT1 TBCK GNS CANT1 COLEC11 PEX5 INTS1 RREB1 GDF3 UBE2A THAP1 PEX26 TTN WASHC5 CDK5 TCTN2 SPRED1 FIG4 SMC3 ACTB PEX19 ALG9 GABRA1 FOXE1 CIZ1 NXN SEMA5A GATA2 RERE TBX6 RPS24 ANTXR2 LZTR1 IGF1 TRAF7 MYH7 PIGA NF1 AIFM1 ERCC5 POLE OBSL1 ATP6V0A2 MAP2K1 CHN1 BAZ1B WAC TLR3 UBA1 TRAF3 CACNA1A WDPCP GP1BB ACTG1 BBS12 CEP290 VCP RAPSN LBR NOTCH2 SLC16A2 CHST3 ATP6V1A TICAM1 NLRP1 PEX11B GATA1 ADAT3 IFT27 WNT7A GTF2I TWIST1 ERCC6 LMX1B SDCCAG8 PAM16 PPP1R15B KCNN3 RASA2 HYLS1 APC MUSK IGBP1 IRF3 ERGIC1 IRX5 CRKL POGZ EXOC6B COG5 PIGL ECEL1 PALB2 BBS7 PIGO CDC42 TCOF1 TMEM260 SCP2 RPL10 KIF1C FOXC2 CTNND2 SQSTM1 ANKRD11 KCNJ8 TRAPPC9 NKX3-2 CRLF1 TBL1XR1 TBC1D24 BBS1 POP1 SCYL2 OFD1 SETD5 COL11A1 TBK1 CHRNA1 MAP3K7 MYOD1 MGAT2 MAPRE2 TBL2 TGDS ERMARD C8orf37 NPHP1 DHX37 PIGW RDH11 GABRD PRRT2 VAC14 CDK10 ATP6V1E1 CSPP1 BBIP1 PEX3 NDE1 ZNF142 RRAS SCN1A SMAD4 IFT172 MAN1B1 CUL4B FLNA BUB1B MPL PGAP3 WNT4 RPS19 ALDOA CD96 HBA2 WDR81 HP_WEBBED_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEBBED_NECK SMS NKX2-1 CTBP1 CHST3 MYH3 PPP1CB MYO18B RIT1 RAF1 LMX1B GDF6 A2ML1 BMPER MAP2K1 GPC3 RRAS2 NSD2 MAP2K2 RASA2 PTPN11 RPS10 KRAS TPM2 ACTG1 IRX5 AMER1 PIGL B3GLCT CBL FGFRL1 BRAF CHD7 NRAS SHOC2 CDC42 MAFB NF1 TMEM260 SMC1A SOS2 AEBP1 STXBP1 GDF3 FOXC2 SRY CPLX1 NAA10 ANKRD11 SOS1 HRAS KMT2A SEMA3E LZTR1 MAP3K7 SLC35A1 TNNI2 BCOR MKS1 B3GAT3 GATA2 RPS24 MRAS TNNT3 ZMPSTE24 FLI1 GPC4 CHRNG C2CD3 SNRPB MEGF8 PIEZO1 KIAA1109 MEOX1 XYLT2 DVL3 CHN1 IGF1R RRAS TBX2 NALCN SALL4 GLE1 TAPT1 LMNA RB1 RPS19 LETM1 ACTB HP_LIMITED_NECK_RANGE_OF_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_NECK_RANGE_OF_MOTION SCN9A GABRA1 SCN2A GABRG2 PCDH19 MEOX1 SCN1B STXBP1 NOG GDF6 SCN1A HP_NECK_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_MUSCLE_WEAKNESS TRIM32 MYO9A CRYAB KLHL41 SLC52A2 CFL2 DYSF ACTA1 VAMP1 AGRN NEB SNAP25 CHCHD10 KBTBD13 TOP3A TPM3 ORAI1 CHRNB1 GMPPB LMOD3 SYNE1 CHRND TPM2 CAV3 MYPN CHRNE CHRNA1 DMPK TGM6 AK9 SLC5A7 COLQ GYG1 SLC25A1 LRP4 MYH2 SCN4A RAPSN RRM2B GFPT1 COL13A1 SLC22A5 MYL1 MYOT TMEM43 PABPN1 CHAT MUSK SELENON RNASEH1 TTN DES SLC18A3 FA2H SLC52A3 MORC2 MYH7 PNPLA2 DOK7 SGCG PSAP GALC PYROXD1 SYT2 LAMB2 CNBP TRIP4 MTM1 LMNA HP_LONG_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NECK HERC1 FLNA EBP EYA1 ATP7A HP_THICKENED_NUCHAL_SKIN_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_NUCHAL_SKIN_FOLD C9orf72 PEX14 LZTR1 PTPN11 PEX11B MRAS PEX10 GATA1 MAPT VCP PEX16 GRN A2ML1 RRAS2 HRAS RAF1 RASA2 PEX13 TRAF7 PIGN TMEM106B EFNB1 SLC26A2 RNU4ATAC TRIP11 PSEN1 NRAS PEX12 ABCC6 RIT1 TREM2 PEX1 ENPP1 CHMP2B PEX3 PEX5 UBA1 CBL RRAS KRAS PEX6 EBP SQSTM1 PEX26 PEX2 HNRNPK COL2A1 PSAT1 SOS2 TBC1D24 SOS1 ALG9 PEX19 OFD1 SLC35A2 HP_BROAD_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NECK POLE UBE2A DHX37 PSMD12 HYLS1 TECPR2 CCDC22 MED12 RPS28 SLC2A1 COG1 MAPRE2 PPP1CB BPTF TWIST1 NUP88 B3GLCT RPS26 IGBP1 WNT7A HP_CYSTIC_HYGROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_HYGROMA DOK7 PIGS CHRNA1 PTPN11 LZTR1 RIT1 CHRND SLC18A3 IFT43 MYOD1 MUSK MRAS CHRNG CBL RRAS A2ML1 TGDS CEP55 MAP2K1 KRAS RRAS2 RAF1 WDR35 COL2A1 MCTP2 RASA2 BRAF TRAF7 ATN1 KIAA1109 SLC26A2 ESCO2 SOS2 TRIP11 NRAS SOS1 RAPSN NUP88 DONSON LBR HP_ABNORMAL_RETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_MORPHOLOGY BAP1 PROM1 SLC12A6 ELMO2 SDCCAG8 MICOS13 GNAT1 BEST1 IFT172 TSC2 FRG1 KCNJ13 POMT1 MVK SLC13A5 B4GAT1 PTEN REEP6 SLC38A8 KIAA1549 SAG NF1 PNPLA6 ERCC3 MEFV UBE3B CTLA4 KCNJ11 TERT SACS COL2A1 ASAH1 NDUFS7 NDUFAF1 TMEM138 APOE PCYT1A SALL4 CRX EYS GRHL2 CHD7 SCN8A ADAMTS18 PAX6 RDH12 HCCS PEX1 OPN1SW CC2D2A CCR1 WWOX CEP41 PITPNM3 MT-ATP8 MT-ND4 OPN1MW ROM1 NCAPG2 CDH23 DGCR8 TRIM32 TEK FAM111A MT-TK SDHB POC1B TTPA GUCA1A TBX1 INS RNF113A PDE6B RAI1 SLC45A2 TFAP2A TSPAN12 SEMA3E SEMA4A CHST14 RPGRIP1 ESS2 CLCNKB HPS4 SLC7A14 INPP5E BCOR RLBP1 GBA ABCA4 BBS2 GALNT3 PHYH PEX12 PEX10 NEK1 INSR MITF CACNA1B AGBL5 WRN FSCN2 POMGNT1 COX8A BBS4 SLC19A2 HGSNAT C4A OFD1 CEP290 MT-CYB IGFBP7 AIPL1 MMACHC COL11A1 GUCY2D BCS1L RPE65 KLHL7 CABP4 DGCR6 RET WFS1 RAX2 DSE CFI NDUFV1 TEAD1 RAB18 SLC25A11 IQCB1 CRB1 TBC1D20 TMEM67 LRAT TPP1 TERF2IP KRT71 WDR19 PTPN22 GMPPB GPR179 OPN1LW MFSD8 ABHD12 MTTP LRP5 KCNV2 OCRL SDHA LZTFL1 SRD5A3 ELOVL4 ERCC4 EEF1A2 KCNB1 ATF6 NPHP1 PMM2 ACTA2 ARL6 GTF2IRD1 MT-ND5 LRIT3 IFT80 UFD1 COL8A2 SDHD CDHR1 FAS ZFYVE26 CTC1 GPIHBP1 HACE1 COL18A1 CTNNA1 CNGA1 ETHE1 DHDDS CLN5 ERCC6 DLST NF2 COX6B1 SELENOI CHEK2 RPGR COX14 PEX2 MKS1 C12orf57 EP300 POU3F4 CLTC SUMF1 DNMT3B SCN1A CAPN5 NEK2 CNGA3 DEAF1 MAK CLIP2 GCK ERCC2 COMT IFNG WDPCP XYLT1 PCDH15 FKTN HLA-DRB1 PLK4 CRPPA ITM2B IL23R TULP1 MT-ATP6 ERAP1 MAFB UBA5 SMAD4 TAF2 C8orf37 PEX5 MYO7A NEU1 HIRA NR2E3 PEX19 AKT1 MYOC CERKL PDE6C CREBBP CTSA TMEM107 UGP2 DNAJC21 SMCHD1 PARS2 RERE MDH2 MT-ND6 RRM2B DNMT3A NSD2 CNGB3 HLA-B POLG TTC8 MT-ND4L ASPA MT-TL1 ATXN7 PAX4 PEX26 RP1L1 CACNA1F PDE6H GDF6 ALDH1A3 APC VPS13B PRPH2 PDZD7 PRPF4 NDUFA10 HNF1A CIB2 PRDX1 TUB MT-ND3 PEX13 DGCR2 CEP164 RP9 MTFMT CNNM4 CLDN19 XYLT2 PCARE PIEZO2 COL4A1 FGF12 RPL10 COL5A2 AGXT NDUFAF3 CYP1B1 BBS10 TUBB NDUFA4 FTL RHO MT-ND2 PGAP1 FBLN5 KIZ AP5Z1 KCNA2 FLVCR1 KIF1B RCBTB1 ARHGEF18 IFT122 AMACR RP1 NSMCE2 PEX16 OTX2 ARMC9 SIX6 GNB5 RP2 EFEMP1 DNM1 RNU4ATAC RAB3GAP1 OAT PRDM5 CHRDL1 TREX1 MAF RTTN VHL SCN3A ABCC8 NDUFB8 RAB28 CDH3 SERPINC1 NGLY1 NPHP3 MKKS FKRP MC1R ABCC6 TACO1 MT-TF RPS6KA3 ALMS1 GUCA1B PDE6G CCDC28B NDUFA13 HHAT PIGL ISCA1 GGCX B3GLCT SALL1 ERCC1 COX7B BBS5 IDH3B MFRP PLOD1 POMGNT2 MSTO1 PRF1 MT-CO3 MT-ND1 SPG11 GDNF RREB1 IFT140 LAMA1 PEX11B TMEM98 MT-TE ZNF408 TUBGCP4 COX10 PEX7 LOXL1 SMPD1 PEX3 TMEM216 TMCO1 ALG12 TRIM37 ACTB SPATA7 POMK GDF3 BBS12 COA8 MAN2B1 IKBKG PPT1 TTLL5 RNF216 RB1 PPP2R3C CACNA2D4 HADHA LARGE1 SDHAF1 ERCC5 PRPF8 LRP2 USH1C HEXA ATP6V0A2 RBP3 NAA10 BAZ1B MT-TS2 CYFIP2 PIK3CA CENPF POT1 CFAP410 POMT2 EXOSC2 FOXE3 GP1BB MERTK ACTG1 GPR143 CASK TYR NPHP4 JAG1 SOX10 COL9A3 KIAA0586 ZNF423 IFT27 RGR CFH FDXR WDR34 HADHB NDUFV2 MPDZ WHRN IL12B TTC21B CDK4 SURF1 AIRE STAT4 BBS7 B3GALNT2 CBS TBX22 PUF60 GNPTAB TNFRSF11B ARL13B PRPF6 GNB3 IDUA PDHA1 SLC25A15 BBS1 USH2A SH3BP2 CHM RIMS1 FLII PRPF31 CCDC22 APPL1 BMP4 PRPS1 KIF11 POGZ MYO6 TINF2 NDUFA9 TOPORS NMNAT1 NDUFS2 FAM161A CRYAB OPA1 TSC1 EDNRB ARL6IP6 USP45 FBN1 ARL3 HSD11B2 ATP6V1E1 CSPP1 AP3D1 CFHR1 ZNF513 P3H2 MT-TV PSAP GABRA5 AHI1 NDUFB11 GM2A TXN2 APOB MAB21L1 MCOLN1 CFHR3 LTBP2 RD3 DYNC2LI1 NDUFS1 TMEM231 LIMK1 LIPT1 MPLKIP PDX1 PDE6A COL9A2 IMPG2 KLF11 MAPRE2 MYO5A NOTCH3 CYSLTR2 ELN NDUFS8 IL12A-AS1 CNKSR2 GSS MLX PRSS56 SLC1A2 CEP55 ECHS1 PORCN GNAQ STAT3 ZEB1 CTNNB1 FBN2 TRNT1 SYNJ1 HADH CP ADAM9 DNM2 TRAK1 PET100 KLRC4 ERCC8 NDUFAF2 PEX6 ACVRL1 TELO2 HSD17B10 MT-TQ IMPG1 CLRN1 GABRA2 SCO2 LIPH ARSG CYP4V2 MYD88 UNC119 MGMT EDN3 TRPM1 C2CD3 MIR140 RPGRIP1L NOD2 ARVCF INVS COG1 GZF1 KIF5A TRIM44 B9D1 PRRT2 IQSEC2 CNGB1 ADGRV1 FOXRED1 CCM2 FIBP GALC SCAPER HFE TRAF3IP1 HLA-DPB1 SLC24A5 DPP6 CLN3 MT-TH SLC19A3 CACNA1A PEX14 GNA11 IL12A RFC2 DRAM2 CDKN2A GABRG2 DHX38 LCA5 RBP4 ACD STN1 GCDH NDUFA12 CHST6 HMX1 BBS9 ATXN2 PDE6D NECAP1 PMPCA SZT2 CLN6 FBLN1 GLB1 JMJD1C COA3 G6PC OCA2 AARS1 SYCE1 HBB ENPP1 NEUROD1 FGF3 GRM6 CTNS AP3B2 SHH NELFA RXYLT1 YWHAG NRL MT-CO1 IDS PAX2 NDP WT1 TIMP3 LMNA PRTN3 OVOL2 KRT25 TP53 DPM1 ZEB2 EPG5 NYX IMPDH1 TCTN2 HMCN1 HSPD1 TARS1 PRCD COX15 SLC24A1 TUBGCP6 VCAN RMRP CA4 GRN GNAT2 C1QTNF5 POLR3A FZD4 TK2 MT-TW HNF4A DAG1 YAP1 NDUFA2 ALDH3A2 MT-CO2 ADAR COX20 CDKN2B VSX1 SEC24C MAX SAR1B FGFR2 HCN1 SYNGAP1 AHR ATP1A2 CEP120 SNRNP200 ACO2 SCO1 NDUFAF6 CTSD TMEM237 FGFR1 SDHAF2 ACTL6B PGK1 IFT74 ARV1 RAB3GAP2 ATP6V1A TMEM127 GTF2H5 GRK1 TNFRSF11A CAV1 PDCD10 PANK2 COQ2 WDR60 PROS1 HPS5 ARL2BP WARS2 INTS1 BLK SDHC FH NTRK2 ATOH7 PRPF3 GTF2E2 ACOX1 CCND1 ZNF469 RDH5 ANK1 MLXIPL NDUFAF5 KRT74 RNASEH1 CST3 LETM1 UBAC2 MORC2 APOC2 PCNA EPAS1 CHN1 EXOSC3 LPAR6 KRIT1 MAPKAPK3 ANO10 ASXL1 MT-TN HLA-DPA1 TLR4 HLA-A RDH11 HPS6 TRAPPC9 STXBP1 NUS1 VPS33A LOXL3 DYNC2H1 DACT1 SF3B1 SBDS GRIN2D RS1 GTF2I CEP83 GDF2 IDH3A XRCC4 B9D2 IL10 MIR204 TUBB4B SLC37A4 CEP78 COL9A1 PTCH1 SH2B1 TENM3 DUX4 COL5A1 HEXB FLCN USH1G ADAMTSL1 BBIP1 NHS CLCN2 WASHC5 LPL KRAS PPP3CA NDUFS3 NDUFS4 GABRB2 COL1A1 TBL2 FLNB PEPD CEL TERC HK1 IFT88 GATA3 CCNQ STUB1 LYST SLC35A2 CWC27 NDE1 BLOC1S3 ENG FOXC1 ADAMTSL4 TET2 HP_RETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_COLOBOMA PAX2 TFAP2A SALL4 SEMA3E CHD7 RAB3GAP1 RAB18 INPP5E PRPS1 KIAA0586 CEP120 FIBP TBC1D20 DHX38 CEP290 CLDN19 AHI1 FGF3 C2CD3 CEP41 INTS1 PUF60 NMNAT1 PIGL RAB3GAP2 MKS1 B3GLCT HP_ABNORMAL_CORNEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEA_MORPHOLOGY SMARCAL1 ELP1 KRAS KCNJ13 POMT1 B4GAT1 ARID1B REEP6 SLC38A8 XPA RAB3GAP1 KIAA1549 TCF4 DNAH1 TACSTD2 MEFV MAG UBE3B CLRN1 OVOL2 BRIP1 STS MED25 CRYGD PCYT1A CHMP1A GJA1 GRHL2 ADAMTS18 PAX6 RDH12 HCCS PEX1 GLA CC2D2A CCR1 NCAPG2 GAS8 DGCR8 VSX1 TBX1 RNF113A RAI1 CTNS FGFR3 PLEC CHST14 RPGRIP1 ESS2 SLC7A14 GATAD2B BCOR SLX4 CLDN16 PEX10 COL7A1 OCLN NFIX AGBL5 GLB1 POMGNT1 CERS3 KMT2D NRAS RAD21 C4A BUB3 CEP290 ERCC2 MBD5 BEST1 SLC39A8 FANCA FOXC2 H1-4 DGCR6 OPN1MW PEX12 DSE FANCI FGFR1 CYP1B1 ARSB TEAD1 RAB23 VARS1 RAB18 ARHGEF2 CHD3 IQCB1 XRCC2 CRB1 TBC1D20 TMEM67 MPLKIP MMP1 PDGFRB TGFBI DNAAF4 SALL4 GHR LRP5 KCNV2 OCRL OFD1 ATAD3A ABCA1 MBTPS2 ARL6 GTF2IRD1 UFD1 COL8A2 FANCB CDHR1 FAS MEGF8 CEP57 CNGA1 FANCM DHDDS FOXJ1 PRDM12 ERCC6 WIPF1 NF2 SLC4A11 PPP2R5D ATP7B EP300 SUMF1 DNAL1 NEK2 ANKRD11 DEAF1 MAK CLIP2 COL4A3 BBS2 COMT WDPCP PLK4 TBC1D7 WAS CRPPA RSPH9 CHRDL1 IL23R TULP1 FOXE3 ERCC3 ERAP1 MAFB C8orf37 PEX5 AIPL1 DMPK CEP78 HIRA BTD RETREG1 RNF125 CERKL CREBBP CTSA DNAJC21 ABCA12 LCAT RERE GSN DNAJB13 NSD2 HLA-B MT-CYB PEX2 COL18A1 MAD2L2 DDB2 ERCC4 PRPF4 GUCY2D TUB PEX13 TTC8 KIDINS220 DGCR2 PIK3R1 KMT2A PIEZO2 APOA2 CCNO COL5A2 NIPAL4 MKS1 CACNA1F TUBB HMGB3 HGSNAT UBIAD1 LRRC56 KDM5B ARHGEF18 NR2F1 KRT6A RP1 RECQL4 HDAC8 PALB2 OTX2 ASAH1 CHST6 XPC DHCR7 PRDM5 PIKFYVE MAF MCIDAS NLRP3 SC5D NGLY1 PEX16 FKRP ERCC5 GUCA1B GUSB PDE6G TFAP2A CCDC28B PIGL APOE CFAP221 COX7B STK36 IDH3B NEUROD2 PLOD1 ZEB1 HLCS POMGNT2 TBCK UROS RREB1 NME8 PDE6B C1QBP CFAP298 TMEM216 PITX2 TRIM37 PEX19 PDGFB SPATA7 RPE65 TBCE GALNS GLRB GJB2 TBX15 IKBKG TAT CCDC39 ARMC4 RPGR FANCD2 COL17A1 LARGE1 NEU1 SCN9A LTBP2 KRT3 LDLR RIPK4 SLC39A4 LIFR DNAI1 MAB21L2 PLCG2 NAA10 BAZ1B CENPF MARK3 POMT2 EXOSC2 FGFR2 COL4A5 GP1BB REV3L POLH ACTG1 GPR143 RAD51 TYR ALOXE3 JAG1 NLRP1 COL4A4 COL9A3 SLC25A4 PEX11B EYS IDUA CRX RGR CCDC151 HRAS ZFHX2 ESCO2 AIRE STAT4 KLHL7 TBX22 CRYGC RAD51C PACS2 BTNL2 GNPTAB SLC25A24 RNU4ATAC TBL1XR1 USH2A FLII RP2 SETD5 IFT172 CCDC40 BMP4 FOXC1 POGZ BBS1 NMNAT1 FAM161A PPP2CA SLC16A12 COL11A1 CTCF KDSR TTC25 ARL3 LRAT IL6ST SLC20A2 RSPH3 AP3D1 MERTK APOA1 HLA-DRB1 HYDIN CLDN19 IARS2 NDUFB11 HSPG2 MAB21L1 MCOLN1 COL9A1 GTF2E2 GNAS ANTXR1 TP63 EPHX2 DNAH11 RD3 RSPH1 SPAG1 LIMK1 LBR FANCL FBN1 KIFBP PRPF6 MAPRE2 KIF11 IFT140 ELN IL12A-AS1 CEP55 GMPPB GNAQ DNAAF1 KMT2B ALDH18A1 DNAH9 ZNF408 FKTN RSPH4A RHOA AEBP1 KLRC4 ERCC8 KRT12 PEX6 AGK CCDC65 MPV17 NOD2 KERA MMP2 FGD1 CYP4V2 B2M FLI1 MAN2B1 ARVCF COL9A2 B9D1 SMCHD1 IQSEC2 RBP3 COL4A1 CNGB1 XPR1 ZNF513 DST FIBP DNAAF6 B3GLCT CCDC103 TRAPPC2 GBA UBE2T PXDN SMC1A PYCR1 PEX14 PORCN IL12A RFC2 FLNB CDH11 LCA5 KIZ KRT16 TWIST2 PRPF8 ALOX12B RAB3GAP2 SPINT2 HMX1 LMNA PNPLA1 CRYAA KCNMA1 POMK NHS GORAB JMJD1C WNK1 ABCA4 TRPV3 FGF3 BRCA2 STXBP1 NELFA RXYLT1 NRL GJA8 GJB4 FOXL2 WT1 GJB3 COL1A2 PROM1 BRCA1 BUB1B EMC1 CSPP1 ZNF469 ZEB2 IMPDH1 TCTN2 GNPTG TARS1 PRCD NDP CA4 NTRK1 POLR3A NR2E3 SOX2 BUB1 YAP1 DCN PCARE LRRC6 TKFC ALDH3A2 DNAAF5 RAX TGM1 USP9X SEC24C TMEM107 DNAAF3 AHR USP45 RSPO2 FANCE NOTCH2 NAGA RFWD3 ALG11 NIPBL GTF2H5 CHD4 SLC29A3 TOPORS SCAPER ARL2BP CRYBB1 CTDP1 FKBP14 INTS1 SCARF2 FRAS1 AKT1 FANCF ADNP OPN1LW PEX26 TRIP13 MIR184 P4HTM FERMT1 ATOH7 CFAP300 PRPF3 FIG4 SMC3 MYORG SPEF2 FANCG YY1 ZMYND10 SLC2A10 ANK1 COL3A1 SALL1 LETM1 IKZF1 PIGN UBAC2 DNAI2 LMX1B NEK10 PRMT7 PPP1R17 CHN1 PTEN WAC GJB6 AHI1 APOB RPGRIP1L SERPING1 MMP14 SAG FGF10 AGBL1 TLR4 HARS1 LOXL3 ARSG WNT3 SLC4A4 DACT1 GDF6 PLXND1 GAS2L2 GTF2I DHX38 IDH3A PIGT RBP4 B9D2 IL10 RHO ST14 RP9 OSMR KIF1A TINF2 RLBP1 DNAH5 TENM3 CRYBA4 COL5A1 TTC12 EBP ARCN1 CRLF1 EBF3 CLTCL1 KRT17 DPYD PRSS56 FANCC COL1A1 PRPH2 ROM1 DAG1 TBL2 DNAAF2 SEMA4A DRC1 SNRNP200 IFT88 VAC14 FSCN2 AP1B1 B3GALNT2 TMEM231 PEX3 PITX3 IMPG2 CCDC114 BLOC1S3 ZMPSTE24 PRPF31 KRT6B TEK KDM6A MT-TS2 ACTB POLA1 JAM2 GATA1 PDE6A WDR73 CRYBB2 FUCA1 HP_MICROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCORNEA RSPO2 JAG1 WNT3 RAB3GAP1 MPLKIP MAF TUBB ERCC6 SC5D GJA1 CHST14 KRAS MAPRE2 MED25 RAB3GAP2 LARGE1 KIF11 UBE3B HMX1 DEAF1 TFAP2A RBP4 FKRP CEP55 B9D2 WDPCP CRYAA NIPBL CRYGD PLK4 GTF2H5 RAI1 COL4A1 NHS CRPPA GORAB FOXE3 PLOD1 ERCC3 ADAMTS18 POMGNT2 SALL4 HSPG2 MAFB CC2D2A TBC1D20 TBX22 CRYBB1 FGF3 TENM3 CRYGC CTDP1 FKBP14 CRYBA4 COL5A1 RXYLT1 GJA8 NAA10 EBP FOXL2 MIR184 ERCC2 TMEM216 ATOH7 TBL1XR1 SMC3 GTF2E2 RNF113A CSPP1 FLII SETD5 ZEB2 POMK TCTN2 RPGRIP1 PRSS56 RAB18 BMP4 TARS1 BCOR FLI1 TBX15 COL1A1 ANK1 DAG1 FANCB KMT2D SLC16A12 CTCF RAD21 CEP290 POMGNT1 BEST1 POMT2 B4GAT1 LMX1B KMT2A B9D1 COL5A2 IQSEC2 MAB21L2 FKTN RAB23 CHN1 MKS1 B3GALNT2 TMEM67 TMEM231 HMGB3 CENPF B3GLCT PITX3 RPGRIP1L TMEM107 PXDN KDM6A POMT1 SMC1A RECQL4 ACTG1 HDAC8 ACTB PITX2 OTX2 CRYBB2 PYCR1 HP_ASTIGMATISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTIGMATISM TYR LOXL3 GPR143 FANCE ARSG SMARCAL1 CHRDL1 FANCM ERCC4 MPLKIP COL9A3 FANCL ARID1B RFWD3 KRAS PPP2R5D LMX1B TCF4 AGBL5 ARL6 KIF11 PIGT MAG CLRN1 ANKRD11 CCDC28B BRIP1 POGZ EMC1 GTF2H5 TBC1D7 CHD4 ZEB1 COL9A1 KMT2B CHMP1A GRHL2 NEUROD2 ERCC3 DMPK RHOA CEP78 INTS1 RAD51C AEBP1 PACS2 BRCA2 STXBP1 SETD5 GNPTAB SLC25A24 UBE3B FANCF ADNP RNU4ATAC SLC39A8 C1QBP MIR184 COL1A2 ARCN1 ERCC2 DNAJC21 P4HTM VSX1 PCYT1A EBF3 BRCA1 TRIM37 GTF2E2 CC2D2A OVOL2 RNF113A RERE DPYD CHST14 TBCE FANCG GATAD2B TARS1 NIPBL GLRB YY1 BBS1 MAD2L2 SLX4 CLDN16 FANCC MAN2B1 NFIX FANCI CACNA1F KIDINS220 MBD5 FANCD2 MBTPS2 COL9A2 FANCA H1-4 PIEZO2 PRMT7 DSE AP3D1 COL4A1 TEAD1 VARS1 USP9X ARHGEF2 CHD3 WAC FIBP XRCC2 TUB CLDN19 COL11A1 BLOC1S3 KCNV2 UBE2T KDM5B PITX2 HARS1 PALB2 MT-TS2 COL8A2 FANCB CHST6 RAD51 HP_MEGALOCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOCORNEA CHRDL1 FGD1 NSD2 MT-CYB LIMK1 RFC2 POMT2 PRDM5 LTBP2 BAZ1B TINF2 CDH11 POMT1 FKTN COL11A1 FBN1 PPP2CA KIFBP GTF2I GNPTAB POMGNT1 FKRP TBL2 NELFA LETM1 FGFR2 ELN TEK PIK3R1 LARGE1 GMPPB GTF2IRD1 CLIP2 PITX2 KCNMA1 POMK MAF HP_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOPATHY ERCC5 IL12A AP5Z1 BAP1 CDKN2A PDX1 TREX1 ABCC8 TULP1 FGFR1 TERT NDUFB8 KLF11 MAPRE2 ACD MKS1 PEX7 MEFV IL12A-AS1 CTLA4 KCNJ11 MLX SURF1 COL2A1 IL10 IL12B GCK TXN2 CDK4 NDUFAF1 PLK4 STAT3 STAT4 PTCH1 IL23R ERAP1 MT-ATP6 PROS1 HBB ENPP1 NEUROD1 CCR1 TMEM231 CEP41 CTNS KLRC4 NELFA GNPTAB BLK MT-TE TNFRSF11B PTPN22 ERCC2 TMEM107 MT-TK ERCC3 MCOLN1 MITF SCO2 NDUFS2 INS PRTN3 DPM1 NSD2 APPL1 HLA-B PLOD1 MC1R KRAS MT-TL1 KIF11 PHYH MGMT TINF2 PAX4 INSR COL11A1 LETM1 HNF1A C4A C1QTNF5 HADHA UBAC2 NOD2 CEL NEU1 MMACHC HNF4A CDH3 KLHL7 ABCC6 ALDH3A2 AGXT NDUFAF3 CDKN2B TUBB TERF2IP MFSD8 POT1 HFE ASXL1 MYO5A IDUA MTTP HLA-DPB1 SAR1B HLA-DPA1 ERCC4 TLR4 APOE PANK2 CSPP1 TRIM32 FAS HP_DEEPLY_SET_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEPLY_SET_EYE STIM1 SHANK3 KMT2E CAMTA1 FMR1 PHF6 GJA5 KCNAB2 FBN1 NTRK1 RAB3GAP1 TCF4 MAPK8IP3 POLR3A STAG1 SRCAP MYH3 HHAT CRB1 EMC1 NGF RAI1 PRDM16 STAT3 MEF2C PUS7 CACNA1G GSC WASF1 TBCK CDKL5 PIEZO2 DYRK1A DHPS ORAI1 BPTF LAS1L KCNQ3 TBX15 TMEM237 UBE2A SCN2A HMGA2 KCNK4 GJA1 HYLS1 FIBP DCPS RARS2 PRKDC CEP57 KDM5C XRCC4 FARSB TBCE GATAD2B HDAC8 RERE TAF1 UBE3A AGL PIK3CA TAZ UGDH PAK1 SCN8A KIF7 MAPK1 PRMT7 SSR4 FBXO11 IQSEC2 SKI CHN1 EEF1A2 KCNQ2 WAC CENPF NDP HS6ST2 SIN3A ALKBH8 SALL4 LEMD3 OCRL EXOSC2 PRRT2 FBXO31 LARP7 ATAD3A THOC6 SRC ERCC1 GPKOW HACE1 PIGY SEPTIN9 JAG1 ATN1 PSMD12 COL3A1 SLC9A6 MEIS2 ARNT2 EP300 ERCC4 EXTL3 DEAF1 CTBP1 OPHN1 GRIA3 CRKL GORAB ZBTB20 TMEM67 NFIX TCF20 SLC9A7 MAFB TBC1D20 TTI2 ERCC6 PPP2R5D BCR PUF60 DIS3L2 CREBBP TMEM94 DNM1L TRRAP TBL1XR1 PIK3R1 EBF3 CRPPA PYCR1 POC1A FLII NALCN ZEB2 DPYD SLC35A1 ALMS1 PRPS1 POU1F1 SON GATA4 SH3PXD2B ERCC2 CTCF GJA8 KIDINS220 GABRD HECW2 HUWE1 ABL1 PLEC AHDC1 HDAC4 IGF1R IARS2 SMAD4 TPRKB AP1S2 OSGEP HP_KERATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATITIS GSN ALOXE3 PLEC XPC IL12A HLA-B TARS1 MPLKIP LBR B2M NLRP3 DDB2 GJB2 WIPF1 IKBKG XPA CERS3 ERCC3 ALOX12B MEFV ERCC6 ERCC5 C4A IL12A-AS1 NTRK1 UBAC2 ERCC2 NOD2 MBTPS2 LMNA ZEB1 IL6ST NLRP1 IL10 SCN9A PNPLA1 POLH GTF2H5 WAS AIRE STAT4 IL23R PAX6 TGM1 NIPAL4 HLCS ERAP1 FOXE3 UROS HLA-DRB1 GJB6 CCR1 IARS2 BTD AEBP1 KLRC4 RNF125 BTNL2 ZMPSTE24 FGFR2 ERCC4 MAB21L1 COL7A1 TLR4 CRLF1 GATA1 ABCA12 CLTCL1 FAS GTF2E2 TP63 RNF113A HP_ABNORMAL_EYELID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_MORPHOLOGY TWIST1 CTBP1 PHF6 FRMD4A FRG1 AMMECR1 KCNAB2 ARX TCOF1 XPA CLP1 UBE3B STIL MOGS PKP1 NSD1 FGFR3 PUS7 SCN8A CACNA1G ARHGEF6 KMT2A ADAMTS18 SHOC2 HCCS SF3B4 WDR35 COL11A2 WWOX BGN BPTF KCNK4 FGFR1 NECTIN1 CDK6 CEP57 ESS2 PIEZO2 KIT IFT43 MRAS SLX4 CST6 MITF CHRNG KMT2D BBS4 TREX1 AFF2 BUB3 DHODH ATRX AKT3 ABCA12 FOXC2 H1-4 KDM6B KRT25 TBR1 PEX7 BRF1 DDHD2 FBXO11 RAI1 PHGDH DOCK3 EDNRB MYH3 SEC24D TOE1 MMP1 COL5A2 PHC1 SOX9 SALL4 GHR EBP EEF1A2 MAGEL2 ANKH UFD1 LETM1 SNORD115-1 SH3PXD2B RAC1 TGM1 GPC1 KITLG FLT4 WIPF1 LMBRD1 RAF1 PPP2R5D DNMT3A TRAF3IP2 EP300 CLTC ALX3 IRF6 ANKRD11 DEAF1 SIN3A PDE4D WAS FGFR2 NFIX SMAD4 ERCC3 NCAPD3 EFTUD2 DCHS1 UBA5 ITGA3 PEX5 PDHX ATP6V0A2 DNMT3B NANS SOS2 TTPA ADAR BCR GJC2 IQSEC2 IFIH1 SOX10 CRIPT STAG2 CREBBP OTUD6B MN1 UGP2 DNAJC21 SMCHD1 PREPL PARS2 ATP6V1B2 HBB IGLL1 EZH2 NALCN TMCO1 TERT NSD2 RAB18 CHRNA7 PEX2 MAD2L2 ZMPSTE24 MED12 GRIP1 NBAS PPP2R1A CHAMP1 ALDH1A3 VPS13B DYNC2H1 PEX13 SMARCE1 DGCR2 KIAA1109 NAA10 HECW2 PBX1 HUWE1 APOA2 BRAT1 PIGN RPL10 RIT1 NIPAL4 TRAIP TUBB XYLT1 TCF4 CLDN1 DSC3 FAT4 KIF21A PRKAR1A BCL11B TAPT1 ERCC4 QARS1 NR2F1 PALB2 PDE6D CAMKMT ABCC9 DNM1 SOX4 XPC NSDHL ACSL4 RTTN SC5D CHD1 EIF2AK3 A2ML1 MAPK8IP3 MCPH1 SMARCD1 TGFB3 NUP188 POLA1 RPS6KA3 CDK5RAP2 PIGL QRICH1 APOE AMER1 CYP4F22 TUBB3 PRDM16 FZD2 ADAMTS3 EDA PLOD1 FTSJ1 TBCK GMNN IFT52 ITGB4 CANT1 COLEC11 UROS KANK2 RREB1 TMEM237 GJB6 PAH TUBGCP4 WASHC5 PITX2 ACTB GLI3 PEX19 TRMT10A NXN TNNI2 MKS1 APCDD1 DONSON HELLS MAN2B1 WDR60 SMARCB1 RECQL4 BCOR CNTNAP1 SLC25A24 CNKSR2 MBTPS2 LDLR CTNND1 RIPK4 LRP2 ADAT3 MAB21L2 FLNA ASPM EDN3 ASCL1 CYFIP2 CCBE1 DOCK7 WDPCP ATP7A TWIST2 EXOSC2 TBX4 KCTD1 GP1BB RHOBTB2 REV3L POLH BBS12 MVK ERCC1 MAP11 RAD51 PTCHD1 CERT1 SLC16A2 ATN1 PEX11B PCNT SLC17A5 LIG4 IFT27 INPP5E WDR19 ALG3 SMC3 HRAS PIK3R2 MAP2K2 APC BCL11A ESCO2 BRAF CRKL BBS7 CDK13 COLEC10 HOXB1 GJB2 PIGO SNAP29 RPS23 TBX22 CENPJ RLIM RAD51C PAK3 CDC42 TBX1 TBL1XR1 CD96 SH3BP2 NECTIN4 DPH1 MPC1 OFD1 SETD5 COL11A1 LZTR1 CCDC22 ALOX12B DSG4 KIF11 WNT5A MGAT2 PPP2CA CNTNAP2 PARN SLC6A17 FBN1 DHCR24 PIGW DMD PEX6 CDK10 COPB2 AHDC1 ITGA8 RNASEH2A RRAS ZSWIM6 FAS KIF7 TP63 IFT172 CUL4B NDUFB11 ANKLE2 BUB1B HSPG2 MAB21L1 GPRASP2 ANTXR1 KDM6A B4GALT7 OSGEP SNX14 SMS PIGY LIMK1 RPS28 PAFAH1B1 KIFBP CD79A AFF4 MAPRE2 CCNK SLC6A9 ELN LPAR6 ATR POLR1A FGFRL1 IFT122 NRAS SYNJ1 CEP135 TRAK1 KANSL1 KNL1 AP4E1 TBX15 ROR2 POLR1D TRIP12 SPECC1L IL1RAPL1 GABRA2 RPL21 KDM5C MTOR SRCAP WDR4 TBCD MYMK ZC4H2 PEX1 CTCF FRAS1 SKI MIR140 RERE UQCC2 NDN MAPK1 MASP1 CTU2 HNRNPH2 ABHD5 FIBP CPLANE1 TSPAN7 KAT6A C2CD3 POLR1C VEGFC BMP1 ASXL3 LMNA HNRNPK ADAMTS2 PIGV CACNA1A PEX14 SEPTIN9 CDH11 GTPBP2 BBS10 ZNHIT3 LIPH ZBTB24 DSP BBS9 ITGA6 PNPLA1 NECAP1 G6PC LZTFL1 ERCC6 BRCA2 STXBP1 NELFA SYT1 NSUN2 FOXL2 TRRAP RAB11B PIK3R1 RYR1 BRCA1 PYCR1 CCDC115 DPM1 ZNF469 ZEB2 SNAI2 KCNA2 TARS1 ZNF711 SASS6 ETFDH PNPLA6 SULT2B1 SON ALX4 COL5A1 TUBGCP6 ATP6V1E1 GDI1 RBPJ PIK3C2A RNASEH2C PIEZO1 EFNB1 ERCC2 EFEMP2 BUB1 ARL6 RAX TFAP2B UMPS USP9X SOX5 HDAC4 PPM1B COL1A1 DOLK KRT74 PYCR2 PTCH1 DOCK6 COL7A1 SATB2 MFSD2A LIFR RSPRY1 PPP1CB ARID1A DLG3 KAT6B NOP10 IFT80 TSPEAR ACTL6B CDH1 COX7B IGHM SETD2 PTEN ABCA1 GNE SLC29A3 DDB2 ADAM17 CXorf56 MAFB AUTS2 SCARF2 TCTN3 ZNF148 HIBCH UBE2A SEMA3E FANCF NTRK2 CHD7 GPR101 WNT10A EPS8L3 FERMT1 SPRED1 PHF8 RAB3GAP2 ERF FANCG KCNH1 HDAC8 NIPBL GATA2 YY1 ASXL1 SLC2A10 ANK1 AIP GJA1 RUSC2 FANCI TRAF7 APC2 EDAR PIGA SLC39A13 CAMK2A FGF3 PPP1R17 FOXE3 AMPD2 RTEL1 CBL APOB RBMX ETFA MECP2 ALOXE3 SLC19A3 HERC2 ADAMTSL2 FGF10 THOC6 RIC1 CEP290 DPF2 CENPE VPS33A NOTCH2 DACT1 CHST3 CCDC88A SMOC1 PLXND1 LMX1B ALX1 LRP4 WDR62 USP27X PPP1R15B PAX3 PIGT KCNN3 RASA2 DHCR7 PSPH SLC26A2 IGBP1 BMPR1A EHMT1 KIAA0753 KLF13 PQBP1 SLC3A1 FOXC1 KCNJ8 VAMP1 KDM1A CD79B EBF3 PACS1 DPYD PIK3CA PTPN11 CTDP1 KRAS PPP3CA FBXL4 TRIO WNT7A ERMARD SOX18 AP1S1 VAC14 FHL1 CCNQ PUS1 BBIP1 NHP2 NBN CWC27 CAMTA1 PEX3 PSAT1 KPTN HR DKC1 RPL26 CIT EED ALDOA GATA1 WDR73 ARID2 AP3B1 HBA2 CLCN4 BLNK SLC13A5 ARID1B GPC3 RRAS2 BRIP1 DDX11 MED25 SMO GSC BANF1 NCAPG2 DGCR8 TRIM32 ABAT ORC6 DYNC1I2 RNF113A SLC37A4 TFAP2A PDGFRB CHST14 CHRND GATAD2B EDNRA PEX10 NEK1 PTCH2 CACNA1B CERS3 DVL1 C12orf4 SUFU RAD21 CASK GREB1L PURA FLCN EXOSC9 FANCA KLHL7 DGCR6 PEX12 DSE RAB23 VARS1 ARHGEF2 CHD3 TAF1 XRCC2 MPLKIP PTPN22 TENT5A OCRL SUZ12 ATAD3A TINF2 HSD17B4 KCNB1 GTF2IRD1 COG8 LARP7 FANCB GPKOW MLPH COL18A1 FANCM PLEC GPC4 XRCC4 C12orf57 SNRPN CLIP2 COG6 COMT GLIS3 FREM2 PCGF2 HIRA SNRPE AKT1 RNF125 SRY CPLX1 WDR34 ZNF41 SOS1 CARD14 KIF14 GSN EDARADD RMRP TRPS1 FGD1 PLK4 GATA4 ANAPC1 SYP RIN2 ARL3 SLC9A7 STRA6 PWRN1 FGF12 IGF1R KDM5B FREM1 CTC1 PMM2 RET POLR3A LIPN SDR9C7 P4HB RNU4ATAC KMT2E GPC6 SCN3A AMACR CEP152 NF1 NGLY1 PEX16 ERCC5 PGAP3 HHAT PHOX2B B3GLCT HCFC1 MEF2C BBS5 WASF1 KRT81 TXNL4A BMP2 BCORL1 SEMA5A TMEM107 COG1 MAP3K7 IFT57 GDNF KCNJ2 FANCD2 SLC39A4 DVL3 CEP63 BAZ1B PTH1R CTLA4 HS6ST2 DYNC2LI1 TLK2 NONO ACTG1 KRT85 JAG1 ZIC1 ZIC2 SDCCAG8 SCN4A MAP2K1 YWHAE MPDZ MUSK KIF15 GNPTAB ATRIP COL1A2 ZBTB20 FGF5 CDCA7 TAF6 SMC1A ALG13 PLCD1 PACS2 PUF60 DIS3L2 SPART CTNND2 PGM3 TBC1D24 BBS1 ALG9 CD28 FLII CHRNA1 FRMPD4 SNORD116-1 EXT2 ALDH6A1 ATP6V1A RBBP8 HIC1 C8orf37 NPHP1 PHIP MAN1B1 GABRD SMARCA4 CSPP1 GABRA5 NOTCH3 SPINK5 NFIB SNRPB RPS19 ZNF81 EPHX2 GLE1 LRP1 FANCL FGF20 FOXG1 LTBP3 COG7 SLC1A2 PWAR1 MED13L WRAP53 RAB39B RHOA SOX11 LSS KIF1A TELO2 HLA-B DENND5A SHANK3 SMARCA2 FLI1 FAM20C LDHD MEGF8 UNC80 MCTP2 ARVCF MID2 KIAA0586 CKAP2L HBA1 SZT2 MED13 DHX30 TBX2 RNASEH2B UBE2T HERC1 MAF USB1 STAG1 CCND2 RBM10 RFC2 PSMD12 GABRG2 FOXP1 ACOX1 MSMO1 BBS2 KCNMA1 KRT86 MYCN JMJD1C TCF20 GRIA3 ZBTB18 AARS1 ASPH YWHAG B3GAT3 SIX2 ABCA5 MKKS CSNK2A1 DHDDS GBA SEC24C HCN1 RB1 TNFRSF1B TPRKB SYNGAP1 PGAP2 MEIS2 SMARCC2 TTC8 FANCE TRMT1 RFWD3 SHROOM4 CDH3 TGFB2 UPF3B YARS2 SETBP1 GTF2H5 CHD4 LRRC8A TSR2 INTS1 ADNP SAMHD1 PEX26 NPAP1 TRIP13 CNOT1 FIG4 B9D2 GTF2E2 TTC37 DLX4 NRXN1 TAF13 MLXIPL CHD8 SALL1 CYP27A1 PCLO PRRX1 IKZF1 UGDH PRMT7 EGFR CHN1 UBE3A SLC45A1 AP3B2 RDH11 TRAPPC9 NUS1 ETFB GRIN2D FAM149B1 LPL GTF2I MID1 BMPER KCNE5 KRT83 METTL5 ST14 NPM1 KREMEN1 STAC3 TBX6 ARV1 AHI1 TENM3 AGTR2 DUX4 MKRN3 BRPF1 CLTCL1 TERC ORC1 CAMK2G SIM1 LONP1 PHF21A HNRNPU FANCC GABRB2 TBL2 RNF135 TMEM216 TUBGCP2 TCF3 DYNC1H1 FLNB HOXC13 COL3A1 HP_ABNORMAL_FOVEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOVEAL_MORPHOLOGY TYR GDF3 HMCN1 CTNNA1 CNGB3 HPS4 C8orf37 PDE6H RLBP1 RHO IKBKG GDF6 SLC38A8 MC1R PRPH2 CNGA3 ATF6 CACNA1F RBP4 PAX6 APOE PROM1 RPGR CFHR1 MFRP ELOVL4 OCA2 HPS5 RDH5 GNAT2 BLOC1S3 SLC45A2 PDE6C WT1 CFHR3 UGP2 HPS6 SLC24A5 GPR143 ABCA4 RAB28 HP_DOWNSLANTED_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNSLANTED_PALPEBRAL_FISSURES POLR1A GLE1 CLCN4 MRAS AMMECR1 LRP4 RPS28 PAFAH1B1 TCOF1 FBN1 SLC13A5 KIFBP AFF4 ARID1B PTEN FOXG1 MAP3K7 GPC3 RRAS2 KIF11 CNKSR2 MYH3 SLC1A2 FGFR2 KRAS ATR MED25 ATP6V1B2 SMC1A CBL RAB39B CHRNG NSD1 FGFR3 KCNH1 PUS7 BMP2 GJA1 CHD7 SCN8A ARHGEF6 KMT2A GSC TBX1 NRAS SYNJ1 SF3B4 COL11A2 WWOX NFIX BGN CHRNA7 TRAK1 BPTF AP4E1 RAF1 ZSWIM6 TRIM32 ROR2 FGFR1 ABAT EP300 ARX POLR1D ORC6 FIBP SPECC1L IL1RAPL1 HRAS GABRA2 SMARCA2 CEP57 MTOR PDGFRB SEMA3E FGD1 CHST14 MYMK LRP2 FLI1 GPC4 CACNA1B DVL1 FAM20C BRAF BBS4 PAX3 LDHD SKI UNC80 CEP152 BUB3 OFD1 DHODH ARVCF FLCN RPS6KA3 MID2 CKAP2L RERE COG1 KDM1A TBR1 DSE HBA1 FBXO11 RAI1 SZT2 DOCK3 ARHGEF2 TAF1 SEC24D TSPAN7 POLR1C SUZ12 HERC1 WNT5A ASXL3 MAF EEF1A2 KCNB1 LMNA HNRNPK KPTN UFD1 SOS2 SH3PXD2B CACNA1A PSMD12 GABRG2 CDH11 NOTCH3 PPP2R5D BBS10 SLC39A13 DHCR24 FOXP1 DPF2 C12orf57 CLTC BBS9 MAP2K2 SIN3A COMT NECAP1 BBS2 KCNMA1 JMJD1C AARS1 EFTUD2 UBA5 LZTFL1 ATP6V0A2 FLNA ASPH HIRA IQSEC2 AKT1 NELFA DVL3 NECTIN1 YWHAG CREBBP OTUD6B MN1 DNAJC21 PARS2 ZNF41 BUB1B SOS1 PYCR1 EZH2 CCDC115 DPM1 NALCN ZEB2 PTPN11 TMCO1 NSD2 KCNA2 ZNF711 TRIO B3GAT3 ZMPSTE24 SON MED12 SLC25A24 ABCA5 PLK4 MKKS GATA4 MVK SYP VPS13B PACS1 RNU4ATAC RIN2 GDI1 SETD5 SLC9A7 PYCR2 EFNB1 NAA10 EFEMP2 BUB1 PPP1R15B PPP2R1A HUWE1 ARL6 SATB2 FGF12 RIT1 DHDDS TRAIP TFAP2B UMPS AHDC1 USP9X SOX5 SEC24C KDM5B HCN1 POLR3A SYNGAP1 P4HB TTC8 DNM1 DHCR7 KMT2E SNAP29 YWHAE MASP1 ACSL4 SCN3A SC5D CHD1 RECQL4 PPP1CB TSPEAR ACTL6B FTSJ1 A2ML1 ZBTB20 TGFB3 TGFB2 UPF3B PHOX2B SETBP1 ATP6V1A SETD2 GLI3 TUBB3 HCFC1 FZD2 BBS5 YY1 GMNN COLEC11 CXorf56 AUTS2 TSR2 RREB1 ZNF148 TMEM237 NTRK2 TRIP13 WASHC5 ADAMTS2 BCORL1 SPRED1 RAB3GAP2 ATRX TRMT10A NXN TNNI2 TTC37 MKS1 SEMA5A SLC2A10 LZTR1 CHD8 LETM1 EED GDNF PRRX1 APC2 NF1 APC CAMK2A FGF3 MAP2K1 PCNT TWIST2 AMPD2 ASCL1 CYFIP2 UBE3A SLC45A1 HS6ST2 MECP2 WDPCP SLC19A3 DYNC2LI1 ATP7A EBP FGF10 AP3B2 GP1BB NONO ACTG1 BBS12 STXBP1 CEP290 NUS1 CENPE ADNP PTCHD1 NOTCH2 CHST3 PEX3 SMOC1 GRIN2D IFT27 ZIC1 SDCCAG8 USP27X KCNN3 RASA2 BCL11A KCNE5 MPDZ KIF15 ESCO2 IGBP1 ATRIP PTCH1 BBS7 COLEC10 BMPR1A STAC3 CDC42 DPH1 ARV1 ALG13 KAT6B CENPJ AGTR2 RLIM PACS2 PAK3 SPART CTNND2 BRPF1 EDN3 BBS1 EBF3 COL11A1 FRMPD4 CCDC22 PIK3CA PPP3CA DLG3 FBXL4 GABRB2 MGAT2 MAPRE2 ALDH6A1 RNF135 RBBP8 C8orf37 NPHP1 DMD MAN1B1 RDH11 FHL1 CDK10 ATP6V1E1 BBIP1 DYNC1H1 RET CWC27 GABRA5 CAMTA1 RRAS KIF7 IFT172 CUL4B NFIB RPS19 ACTB ARID2 ZNF81 HBA2 OSGEP HP_RECURRENT_CORNEAL_EROSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CORNEAL_EROSIONS FGFR3 FGFR2 MBTPS2 GJB2 CHST6 TGFBI NTRK1 UROS FGF10 ELP1 MPV17 FOXC2 KRT3 CTNS GATA1 HP_BLEPHARITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHARITIS SETD5 TERT DDB2 WIPF1 CST6 PLXND1 NOP10 PARN XPA ERCC3 TRAF3IP2 RAD21 ERCC5 MBTPS2 MSMO1 ERCC2 ST14 NPM1 NIPBL KMT2A PKP1 WRAP53 SLC39A4 WAS PIGN TP63 ADAM17 UROS NHP2 GJB6 RTEL1 XPC DKC1 MMP1 PLCD1 USB1 ERCC4 TBX4 TINF2 CTC1 APOE REV3L SMC1A COL7A1 HDAC8 GATA1 SMC3 TERC HP_ABNORMAL_EYELASH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELASH_MORPHOLOGY ABCC9 APCDD1 KMT2D SHANK3 RNU4ATAC DHCR7 PHGDH ARID1A LRP1 SMARCC2 FRMD4A FRG1 FGFR1 STAG2 TCOF1 NOP10 NF1 AFF4 ARID1B CDH3 SNAI2 LTBP3 PNPLA6 SLC6A9 SMARCD1 CLP1 CDH1 HR SRCAP NXN BRCA1 YARS2 TWIST2 MOGS COX7B LPAR6 NIPBL ATP6V1B2 PKP1 WRAP53 SMC1A FZD2 KCNH1 EDA GJA1 KMT2A BANF1 DSG4 HSPG2 LMNA HCCS SF3B4 PUS1 NHP2 CANT1 KRT81 UROS SOX11 KANK2 SMARCA2 SMCHD1 TSR2 LSS LIPH COL11A1 FRAS1 EDNRB GJB6 SHOC2 ROR2 KCNK4 TUBGCP4 EP300 POLR1D WNT10A EPS8L3 TMCO1 RIPK4 FIG4 DENND5A SMC3 NECTIN1 PLK4 RPL21 TP63 EDARADD VPS33A DLX4 HDAC8 KIT SNRPE EDNRA GJB2 TAF1 CTCF CST6 KRAS MITF CLDN1 EDN3 SMARCB1 RUSC2 DVL1 BRAF SOX18 RAD21 SLC25A24 EDAR MBTPS2 FOXC2 KRT25 SOX10 CTNND1 EGFR FBXO11 MAB21L2 DVL3 VARS1 MAP2K1 ARHGEF2 RTEL1 SMARCA4 MPLKIP PTPN22 TENT5A FBN1 MMP1 BMP1 WNT5A TBX4 TINF2 EBP STAG1 DPF2 KRT85 MAF MLPH GTPBP2 ZMPSTE24 ALX1 PAX3 DSP DNMT3B MAP2K2 KCNN3 KRT83 ANTXR1 NPM1 FGF5 KRT86 KREMEN1 TAF6 RPS23 ITGA3 DPH1 DKC1 PLCD1 PUF60 DUX4 SLC3A1 CREBBP KCNJ8 OTUD6B POLR1C PREPL TERC ORC1 NECTIN4 XYLT1 WDR35 SETD5 PACS1 TERT SOX4 RMRP TRPS1 CTDP1 DOCK7 KIF11 MGAT2 SMARCE1 KDM6A PARN ANAPC1 TUBGCP6 VPS13B NOTCH2 NAA10 RECQL4 VAC14 ARID2 ALX4 CWC27 PPM1B DOLK KRT74 DSC3 FAS PSAT1 SPINK5 MAN1B1 USB1 NDUFB11 CTC1 MAB21L1 HOXC13 POLR3A COL7A1 B4GALT7 COL3A1 CAMKMT HP_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLAUCOMA LIMK1 POMT1 PTEN REEP6 PRPF6 KIAA1549 ARL6 LARGE1 ELN OPTN PITX2 OVOL2 PRSS56 COL2A1 GNAQ ZEB1 TTC37 FUT8 GRHL2 RDH12 HCCS PEX1 ZNF408 PAX6 FKTN PTCH1 RHOA NCAPG2 CRYBA2 ZSWIM6 PEX6 AGK CYP1B1 GJA1 TEK NLRP3 CHST14 SLC7A14 LTBP2 MYMK PEX10 ESCO2 NF1 PTCH2 AGBL5 POMGNT1 BCOR MAG TREX1 SUFU RAD21 BUB3 NOD2 ARVCF BEST1 COL11A1 CRX MYOC GZF1 TRIM44 PEX12 MASP1 DSE ARSB RBP3 COL4A1 CNGB1 ZNF513 WFS1 CISD2 PTPN22 B3GLCT IFT140 RNASEH2B FGFR2 LRP5 OCRL PXDN OFD1 CLN3 LMX1B SMC1A GTF2IRD1 UFD1 COL8A2 CDHR1 SH3PXD2B WT1 PEX14 CEP57 CNGA1 DHDDS RFC2 CDH11 ADAMTS10 KIZ FOXC1 IDUA PRPF8 EP300 B3GALNT2 NEK2 MAK CLIP2 BBS2 COMT POMT2 CRYAA HLA-DRB1 NHS CRPPA SKIV2L TWIST1 JMJD1C GLIS3 WDR36 FREM2 TBC1D20 ABCA4 C8orf37 FLNA HIRA ADAR AKT1 IFIH1 RXYLT1 CERKL NRL SRY GJB4 CREBBP GJB3 TIMP3 PROM1 PIK3R1 BUB1B GSN IMPDH1 B3GAT3 PRCD PLK4 VCAN FOXE3 PRPF4 NTF4 CA4 FBN1 TUB PIK3C2A RNASEH2C PEX13 TTC8 SBF2 NR2E3 TBX1 B4GAT1 CCBE1 BUB1 DAG1 KMT2A YAP1 BDNF DCN PCARE TKFC COL5A2 ATR TRAIP VSX1 SEC24C HGSNAT ARHGEF18 PEX2 RP1 RECQL4 CLRN1 AHR HDAC8 SIX6 RASA1 RRM2B DHCR7 PRDM5 CHRDL1 ASB10 CEP152 PEX16 FKRP GUCA1B PDE6G CRB1 CCDC28B YARS2 COX7B PYCR1 NIPBL TOPORS IDH3B PLOD1 POMGNT2 PUS1 SCAPER CANT1 PEX5 ARL2BP RREB1 CRYBB3 PDE6B TMEM98 SAMHD1 PEX26 LOXL1 TRIP13 ATOH7 PRPF3 SMC3 PEX19 SPATA7 ZNF469 RPGR PCNT NAA10 BAZ1B VHL NDP AHI1 SAG EXOSC2 GMPPB EBP GP1BB CENPE MAF SLC4A4 CHST3 SLC25A4 PEX11B ACVR1 EYS RGR ADAMTS17 GTF2I DHX38 IDH3A ATRIP RNU4ATAC RHO ANTXR1 RP9 KLHL7 DDX58 CBS RLBP1 CENPJ ADAMTS3 COL5A1 BTNL2 ADAMTSL1 USH2A XYLT1 WASHC5 RP2 SETD5 RS1 POMK CCDC22 IFT172 KIF11 BBS1 FAM161A COL1A1 RPE65 PRPH2 ROM1 TBL2 RBBP8 MAFA KDSR SEMA4A ARL3 LRAT TULP1 SNRNP200 IFT88 FSCN2 STUB1 MERTK RNASEH2A PEX3 IMPG2 FAS NDUFB11 ANKLE2 PRPF31 MAB21L1 MFRP RPS19 TGFB1 FAT4 PDE6A COL3A1 HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY VPS33A XPC PIK3CA DACT1 IL12A MPLKIP LBR NLRP3 KLLN KRAS ENG BLNK PSMB9 WIPF1 MAPT CD79A XPA FGFR2 TP63 GDF2 ERCC3 CD19 MEFV ERCC5 IL12A-AS1 SAMD9 DNASE1L3 LMNA NLRP1 IL10 IGHM CD79B GNAQ GTF2H5 WAS AIRE STAT4 RNF168 FUCA1 ATM DDB2 IL23R GJB2 ERF HLCS ERAP1 UROS MANBA SLC52A2 BTK IGSF3 GLA SMAD4 PCNA CCR1 LRBA PIEZO1 ACVRL1 TNFRSF13C DKC1 BTD AEBP1 KLRC4 RNF125 BTNL2 FOXC2 AKT1 COL7A1 CTSA HLA-B PLG MMP1 RAG1 ERCC2 SEC23B NOD2 IGLL1 KRT1 GTF2E2 RNF113A TNFRSF13B ICOS GSN CR2 TARS1 GNAS B2M GALNT3 RAG2 STX16 SALL1 SDHB PEX6 ERCC6 TNFRSF1A C4A IKZF1 UBAC2 MBTPS2 SCN9A PSMB8 SETX FERMT1 TCF3 TFRC PSMB4 PIK3R1 MASP1 USF3 PTEN SLC39A4 FGFR1 KRT14 AP1B1 KRT10 SDHC FOXE3 GJB6 ANO10 HLA-DRB1 IARS2 TKT ZMPSTE24 ERCC4 LRRC8A MAB21L1 TLR4 PITX2 POLH USB1 GATA1 FAS ASAH1 SDHD HP_ABNORMALITY_OF_VISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VISION TWIST1 BAP1 VPS11 PROM1 SDCCAG8 PHF6 TCIRG1 MICOS13 SYNJ1 GNAT1 BEST1 IL17F KCNAB2 TCOF1 MVK FGFR3 MT-CO1 TSFM XPA EPCAM CLRN1 UCHL1 TMEM138 PCYT1A SCN8A CHMP1A GRHL2 RDH12 HCCS CCR1 WWOX PITPNM3 MT-TL1 OPN1MW ROM1 NDUFS3 ANOS1 ELOVL1 TEK USH1C ERCC3 HLA-DQB1 TTPA OGT PNPLA6 ZC3H14 SMCHD1 SCN1A CAMK2B HPS4 SLC7A14 MARCHF6 BCOR ABCA4 PHYH SLX4 CST6 MITF FSCN2 MT-ND4 SARDH MAG SLC19A2 COL2A1 BUB3 DDX3X RPGRIP1 VPS13C SALL2 FOXC2 H1-4 RPE65 ARSA GUCY2D CABP4 RAX2 CFI LYST RAB18 WDR45B FLRT3 IQCB1 TBC1D20 MPL GPR179 MFSD8 MMP1 TGFBI SALL4 SRD5A3 ELOVL4 NHLRC1 EEF1A2 ANKH ATF6 LRIT3 NDUFAF3 TMEM126B CTC1 POC1B MTR SLC4A11 LRRK2 DCC MT-TW PEX2 POU3F4 CLTC B3GALNT2 CAPN5 KIF14 ANKRD11 HESX1 HLA-DRB1 PLK4 RLBP1 FGFR2 IL23R TULP1 MT-ATP6 FRRS1L UBA5 FOXP1 SMAD4 NDUFV1 NOP56 C8orf37 DMPK BTD CEP41 CARS2 CERKL PGAP1 MSH6 ERCC2 ATP1A2 DIAPH1 PLG OPA3 SLC25A1 PARS2 HBB IQSEC1 FKTN MEN1 MT-ND6 GALC TRAPPC12 ADAMTS10 MT-ND4L MAD2L2 APP ATXN7 NBAS RP1L1 PPP2R1A CACNA1F PDE6H SLC2A1 PRPF4 PRDX1 PEX13 TTC8 SLC18A3 CHRND HECW2 NDUFB3 FA2H XYLT2 PCARE BDNF BRAT1 PIGN PIGT LEMD3 CYP1B1 HGSNAT MAPT NUS1 ERCC4 MTRR FLVCR1 RCBTB1 ARHGEF18 NR2F1 RP1 PALB2 SEMA4A NDUFS7 FGF14 CTSH DNM1 XPC ASNS PRDM5 IMPDH1 EIF2B3 NLRP3 CNGB3 RAB28 CDH3 NPHP3 PMS2 FKRP MC1R MAPK8IP3 ABCC6 MT-TF ALMS1 GUCA1B PDE6G MT-ND3 MSX2 RGS9BP SPATA5 TUBB3 PRDM16 VAMP2 RGS9 PLOD1 IBA57 TNFRSF11A SAG SPG11 IFT140 PDE6B PEX11B AP4M1 GJB6 LRP5 PODXL TUBGCP4 C1QBP RFT1 ABCD1 PEX3 NAGA PEX19 NDUFS1 PEX1 ITGA2 PIGP SPATA7 POMK MT-CYB TMEM98 PDE6C PPT1 POMGNT1 KIF5A FLT1 MYO7A HCRT HLA-B PSMD12 CNTNAP1 MMACHC COL17A1 MBTPS2 NEU1 KRT3 FCSK ERCC5 LRP2 LIFR PTPN22 RBP3 NAA10 CACNA2D4 CYFIP2 EIF2B5 ATIC DOCK7 VPS35 SOX2 ATXN3 CFAP410 TRAF7 TRAPPC2L PCYT2 C12orf4 GMPPB EARS2 FOXE3 PCDH15 REV3L POLH CHRNA1 MERTK PIK3CA GPR143 EPRS1 SLC12A3 RAD51 CERT1 PINK1 ATN1 REEP6 OCA2 EYS ERCC6 ALG3 BMPR1A CACNA1A PIK3R2 MAP2K2 MECR FMN2 WHRN POLG CLCNKB WDR26 BRAF CACNA1E MT-ND2 STAT4 AP4S1 GJB2 CBS SNAP29 TUBA3D CRYGC KIF1C APC ADAMTSL4 ACTB RAD51C CDH23 NDUFS4 OAT PRPF6 PRNP USH2A CALR SH3BP2 MLH1 RP2 HIKESHI IFT172 ENG KIF11 POGZ MYO6 TYR NMNAT1 FAM161A PPP2CA WDR19 PEX10 USP45 DHX37 TBC1D24 FOXRED1 MTFMT NDUFB9 RPGR CFHR1 ZNF513 KCNA1 PSAP NPHP4 C12orf65 CLCN7 AHI1 SMARCE1 FAS TP63 CACNA1D NDUFB11 ARL6 SCN3A MAB21L1 CRX EXOSC8 ANTXR1 LTBP2 PRIMPOL OSGEP NUBPL TMEM231 LIMK1 SOX3 EIF2B4 JAK2 MT-ND1 NARS2 AFF4 PDE6A TREM2 IMPG2 NOTCH3 CYSLTR2 PRPH2 CNGA3 TPP1 ELN NADK2 RRM2B POLR1A GNAQ MT-TC DTNBP1 C19orf12 CDKL5 ZNF408 TRAK1 PPP3CA AIPL1 NDUFV2 KRT12 SLC5A7 PHGDH TNFSF11 HRAS MT-TQ PROS1 IMPG1 POLR1D TP53 MT-CO3 NDUFS2 GABRA2 SCN4A CA2 COL13A1 UNC119 SFXN4 NDUFB10 FRAS1 EDN3 GUCA1A TRPM1 NRAS RHO GP1BB CORIN RPGRIP1L NOD2 ZNF365 MBOAT7 CNGB1 SCAPER CCDC141 PUS3 KAT6A HLA-DPB1 GLRX5 PRRT2 TMEM216 DPP6 CLN3 ADGRV1 ESR1 MT-TH PEX6 CEP290 HGD DARS2 MYO9A PEX14 GNA11 IL12A DRAM2 GTPBP2 KIZ PEX12 TWIST2 CC2D2A ZNHIT3 GABRB2 ARNT2 CHST6 NLRP1 NECAP1 ISCA2 CLN6 NHS STIM1 SLC25A46 GNAS ENPP1 STAT6 PRSS12 WNT10A AP4B1 BRCA2 SYT1 TBX1 CLP1 PAX2 TRRAP RAB11B RSRC1 LRP4 ST3GAL3 BRCA1 PRTN3 EMC1 WDR81 DPM1 ZNF469 NYX HMCN1 KCNA2 TARS1 PRCD SLC24A1 SON ATP8A2 TUBGCP6 VCAN FGF17 CA4 GRN IL17RA FBN1 OPN1LW BUB1 YAP1 MT-CO2 STOX1 FRMD7 VSX1 KCND3 TUB CTNS PYCR2 ARX SAR1B SLC24A5 AHR COL7A1 OPA1 ARID1A ADRA2B SLC1A3 FGFR1 CRADD LSS ACTL6B ALG11 CDH1 CSF1R LINS1 TOP3A CTNNB1 COX7B RAB3GAP2 ABCA1 COG4 GRK1 DDB2 TOPORS WDR11 PAX6 HSPG2 WARS2 ARL2BP COL11A1 ALDH3A2 SEMA3E SERPINI1 FANCF NTRK2 CHD7 GABRB1 MMP19 PITX3 PGK1 ACO2 RAPSN SUCLA2 NRL FANCG DCPS ITGA2B COQ7 CA8 INPP5E FANCI PIGC PHOX2A PIGA MORC2 CRYBB1 PMPCB GTPBP3 DOK7 PARK7 AMPD2 MAPKAPK3 ANO10 PROKR2 KCNQ2 LRPAP1 SNX10 MYO5A CTNND2 TRAF3IP2 HARS1 RIC1 FAN1 PUM1 PLA2G6 ZNF423 LOXL3 NSUN2 DACT1 CHST3 AIMP1 TWNK SF3B1 TERT TTR PLXND1 SORL1 OCRL IDH3A XRCC4 PDE4D RBP4 SPTBN2 RIMS1 IGBP1 SH2B3 RP9 PCDH12 PRPF3 GNB1 LARGE1 CHRNE PQBP1 HEXB GRIP1 LIM2 GNB3 MOG GNAT2 SDHA RS1 DPYD KRAS MT-ND5 NDUFAF1 AP4E1 TRIO METTL23 CIB2 TREX1 PEPD LMNB1 ZEB1 SNRNP200 IFT88 ESPN PEX16 OFD1 MTTP FXN ANGPTL6 CWC27 NDE1 CD109 FOXC1 PRPF31 TET2 CLEC7A MT-TS2 AGRN USP8 AP3B1 DNAJC6 LMAN2L KCNJ13 POMT1 TOMM40 GBA SLC13A5 B4GAT1 ARID1B SLC38A8 KIAA1549 TACSTD2 MEFV OSTM1 CTLA4 OVOL2 BRIP1 ATRX BOLA3 MED25 APOE OPN1SW NFIX MLH3 MSH2 POLG2 NCAPG2 KCNQ3 AK9 COL3A1 MTHFS GIGYF2 GJA1 AKT1 MT-TK SDHB HPS3 RNF113A SETBP1 SLC45A2 SLC35A2 TSPAN12 PDSS2 CKAP2L CACNA1B AGBL5 SMARCB1 C4A MBD5 FANCA NDUFS6 TRAPPC9 COPB2 ARHGEF2 CHD3 XRCC2 CRB1 KISS1R LRAT MED23 KCNV2 SUFU HSD17B4 KCNB1 HSD3B7 NPHP1 USH1G GTF2IRD1 COL8A2 NDUFS8 SDHD FANCB CDHR1 NF2 WT1 PIGY COL18A1 KCTD7 CEP57 CNGA1 FANCM DHDDS TUBB4A CLN5 SMO SELENOI RNF13 SUMF1 NEK2 MAK CLIP2 BBS2 XYLT1 ITM2B GP1BA ZFYVE26 PLEKHM1 ERF ERAP1 MAFB KDM5B CEP78 NR2E3 TBCK DKK1 MYOC SRY PMS1 RAC1 MAN1B1 LCAT RERE GSN PEX26 GDF6 EIF2B1 ARL3 TGFB1 KIDINS220 CEP164 CNNM4 RPS20 FGF12 LAMB2 TIMM8A CRBN EIF4G1 DNM1L AMACR ADA2 ITGB6 NSMCE2 ARMC9 EFEMP1 RAB3GAP1 CHRDL1 PIKFYVE IL17RC NAB2 NDUFB8 AIFM1 GGCX ERCC1 IDH3B NEUROD2 MFRP WASF1 SNCA MFN2 MALT1 HS6ST1 SLC45A1 LAMA1 MT-TE COQ2 BCL10 PRKDC GDF3 PDCD1 MUSK TAT TGFBR2 HADHA FANCD2 SCN9A SDHAF1 IKBKG PRPF8 SLC39A4 HEXA HTRA2 BAZ1B CHN1 MARK3 POMT2 CACNA1G GRIN2D THSD1 CASK TMEM126A TNIK SOX10 COL9A3 CDK8 RGR CFH PAX3 FDXR TACR3 PSEN1 IL12B NDUFA6 AIRE CHRNB1 KLHL7 PRPS1 SLC52A2 TXNL4A FH PLCD1 PUF60 BTNL2 SLC25A24 RNU4ATAC DUSP6 ELMO2 NDUFA1 NDUFA11 CHM CHP1 NDST1 NSMF ABCA7 CHAT EDNRB PDXK DLD PEX7 GABRD SAMD12 SMARCA4 CSPP1 AP3D1 LCA5 APOA1 GABRA5 EDNRA CNTN2 MCOLN1 CFHR3 TRAPPC11 FEZF1 RD3 SLC39A14 CCDC47 DNAJC13 MPLKIP RTN4IP1 BIRC3 TNFSF4 FANCL IL12A-AS1 CNKSR2 SLC6A19 MLX SLC1A2 PORCN THPO FGF8 FBN2 EPM2A ADAM9 ALG2 DBH UFM1 PCNA RHOA KLRC4 KIF1A TELO2 HSD17B10 SCO2 CLIP1 PSEN2 CYP4V2 TSEN2 TIMMDC1 NDUFAF8 FBXO31 KIAA0586 COL9A2 INVS NFKB2 TRIM44 SKI COL4A1 LAMP2 AAAS NDUFAF4 B3GLCT UBE2T TFG SPTBN4 SOST PYCR1 CTNND1 PEX5 RFC2 GABRG2 SNAP25 CRYAA SZT2 GORAB ST3GAL5 TRNT1 AARS1 GRM6 SHH YWHAG TNF POLR1C NDP TIMP3 BUB1B ITPR1 B3GAT3 ASPA NDUFAF2 MFF RMRP C1QTNF5 SETD5 TMEM67 ATP1A3 FZD4 TK2 TUSC3 DCN TUBB2B TRAF3IP1 P2RY11 PIGS TSEN34 CLCN4 AHDC1 EDC3 GMPPA BMP4 CEP250 HCN1 SYT2 SPRY4 PITX2 SLC25A4 SYNGAP1 FANCE SHANK3 TTLL5 NDUFAF5 CTSD ASB10 VAMP1 TMEM237 RFWD3 TGFBR3 SMG9 SURF1 ATP6V1A GTF2H5 PIEZO2 HPS5 ACVRL1 IL17RD SCN2A ADNP GRIN1 TRIP13 MIR184 TP53RK P4HTM GTF2E2 CLN8 GPAA1 RDH5 MT-TV PDZD7 MLXIPL FREM2 SALL1 FARS2 IKZF1 UBAC2 SARS1 YME1L1 MAP2K1 CC2D1A PDGFB VHL CEP120 ZIC1 EIF2B2 HLA-DPA1 AP3B2 TLR4 HLA-A PANK2 EZR HPS6 STXBP1 MAF TANGO2 ARSG GRIK2 GTF2I GDF2 DHX38 GM2A SOBP IL10 MIR204 ST14 TUBB4B COG5 COL9A1 CDC42 TSEN54 VPS13A ARV1 TCF12 TENM3 LRMDA VPS13B VLDLR LAMC3 BBS4 GATA2 HPS1 PROK2 PRKN CLCN2 CYP27A1 FANCC ITGB3 HNMT WASHC4 TBL2 OTX2 AHSG MPDU1 YEATS2 HK1 RDH11 TUBGCP2 ARHGDIA TMEM240 AIP SEMA3A AP1B1 BLOC1S3 TECR MKS1 POLA1 FDX2 HP_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_IMPAIRMENT GNB1 TWIST1 BAP1 MICOS13 VPS11 PROM1 SDCCAG8 PHF6 TCIRG1 SYNJ1 GNAT1 BEST1 LMAN2L IFT172 KCNJ13 KCNAB2 POMT1 TCOF1 B4GAT1 FGFR3 ARID1B MT-CO1 TSFM REEP6 SLC38A8 KIAA1549 EPCAM SAG TACSTD2 MEFV OSTM1 MC1R CTLA4 CLRN1 BRIP1 ATRX BOLA3 TMEM138 MED25 APOE PCYT1A SCN8A CHMP1A CRX EYS OPA3 GRHL2 COX7B SH3BP2 MTRR PAX6 RDH12 HCCS PEX1 OPN1SW CCR1 NFIX PITPNM3 MT-TL1 MT-ND4 OPN1MW MLH3 ROM1 NDUFS3 MSH2 POLG2 NCAPG2 ANOS1 SRD5A3 ELOVL1 COL3A1 MTHFS GJA1 TEK USH1C AKT1 MT-TK SDHB POC1B TTPA GUCA1A HPS3 OGT PNPLA6 SETBP1 ZC3H14 SLC45A2 SLC35A2 TSPAN12 SMCHD1 SCN1A SEMA4A CAMK2B HPS4 SLC7A14 INPP5E BCOR RLBP1 UCHL1 PDSS2 ABCA4 CKAP2L MT-TW PHYH PEX12 SLX4 PEX10 COL7A1 AGBL5 FSCN2 GPR143 TRAPPC12 SARDH SMARCB1 MAG SLC19A2 C4A COL2A1 DDX3X MBD5 TYR RPGRIP1 MT-CYB AIPL1 SALL2 GUCY2D FANCA H1-4 RPE65 ARSA CLCN7 CABP4 RAX2 CFI NDUFS6 LYST TRAPPC9 COPB2 RAB18 WDR45B ARHGEF2 FLRT3 CHD3 IQCB1 XRCC2 CRB1 TBC1D20 KISS1R LRAT TPP1 MED23 PTPN22 MPL OPA1 GPR179 OPN1LW MFSD8 MMP1 SALL4 LRP5 KCNV2 OCRL ELOVL4 SUFU OFD1 NHLRC1 HSD17B4 ANKH ATF6 NPHP1 USH1G ARL6 GTF2IRD1 LRIT3 COL8A2 NDUFS8 SDHD NDUFAF3 FANCB CDHR1 NF2 FAS TMEM126B CTC1 WT1 PIGY COL18A1 KCTD7 CNGA1 FANCM DHDDS NTRK2 TUBB4A CLN5 SMO SELENOI MTR RNF13 SLC4A11 DCC PEX2 POU3F4 SUMF1 B3GALNT2 POMGNT1 CAPN5 NEK2 KIF14 ANKRD11 CNGA3 MAK GALC CLIP2 ERCC2 BBS2 HESX1 XYLT1 PLK4 ITM2B GP1BA FGFR2 ZFYVE26 IL23R PLEKHM1 TULP1 MT-ATP6 ERF ERAP1 FRRS1L MAFB FOXP1 NDUFS2 SMAD4 NDUFV1 C8orf37 MYO7A NEU1 TGFBI KDM5B GTPBP3 DMPK CEP78 BTD CEP41 TBCK PEX19 MYOC PLA2G6 CARS2 HARS1 CERKL PGAP1 SRY MSH6 PDE6C PMS1 RAC1 DIAPH1 MAN1B1 PLG RPGR HBB IQSEC1 FKTN MEN1 LCAT RERE GSN MT-ND6 TBC1D24 CNGB3 HLA-B POLG ADAMTS10 PROKR2 MT-ND4L NAGA MAD2L2 ATXN7 PEX26 NBAS RP1L1 PPP2R1A CACNA1F PDE6H GDF6 PRPH2 PRPF4 FBN1 PRDX1 TUB EIF2B1 ARL3 PEX13 TTC8 KIDINS220 CEP164 RP9 HECW2 CNNM4 NDUFB3 FA2H XYLT2 RPS20 PCARE BDNF NOTCH3 BRAT1 PIGN PIGT LAMB2 LEMD3 CYP1B1 TIMM8A CRBN RHO HGSNAT MT-ND2 KIZ NUS1 FLVCR1 DNM1L RCBTB1 ARHGEF18 AMACR ADA2 NR2F1 RP1 NSMCE2 PALB2 NDUFS7 PEX16 ARMC9 MT-ND1 RP2 CHST6 EFEMP1 ASNS RAB3GAP1 OAT PRDM5 CHRDL1 IMPDH1 EIF2B3 TREX1 NDUFB8 AIFM1 RAB28 CDH3 NPHP3 PMS2 FKRP MAPK8IP3 ABCC6 MT-TF ALMS1 GUCA1B PDE6G MT-ND3 MSX2 SPATA5 TUBB3 PRDM16 VAMP2 ERCC1 IDH3B NEUROD2 MFRP PLOD1 WASF1 MT-CO3 PIK3CA IBA57 TNFRSF11A MALT1 SPG11 HS6ST1 SLC45A1 IFT140 LAMA1 PDE6B PEX11B AP4M1 MT-TE ZNF408 COQ2 TUBGCP4 C1QBP RFT1 ABCD1 PEX3 SLC25A1 BCL10 PRKDC NDUFS1 ITGA2 PIGP SPATA7 POMK GDF3 GJB2 TMEM98 PPT1 KIF5A TAT TGFBR2 PEX6 FXN PSMD12 CACNA2D4 CNTNAP1 HADHA FANCD2 MMACHC COL17A1 LARGE1 FCSK SDHAF1 ERCC5 IKBKG PRPF8 LRP2 SLC39A4 HEXA RBP3 NAA10 BAZ1B MT-TS2 EIF2B5 NDUFS4 ATIC CHN1 DOCK7 MARK3 SOX2 CFAP410 TRAF7 TRAPPC2L POMT2 PCYT2 C12orf4 GMPPB EARS2 PCDH15 REV3L MERTK GRIN2D THSD1 EPRS1 CASK TMEM126A RAD51 NPHP4 CERT1 TNIK ATN1 COL9A3 OCA2 CDK8 RGR ERCC6 ALG3 BMPR1A CFH FDXR PIK3R2 MECR FMN2 WHRN TACR3 WDR26 BRAF CACNA1E NHS NDUFA6 AIRE STAT4 AP4S1 KLHL7 PRPS1 CBS SLC52A2 TUBA3D CRYGC FH KIF1C APC ADAMTSL4 ACTB RAD51C PUF60 CDH23 BTNL2 RNU4ATAC PRPF6 DUSP6 GNB3 ELMO2 NDUFA1 NDUFA11 USH2A MLH1 CHM RIMS1 HIKESHI PRPF31 CHP1 NDST1 ENG NSMF KIF11 POGZ TOPORS NMNAT1 FAM161A PPP2CA WDR19 USP45 PDXK DLD DHX37 GABRD FOXRED1 MTFMT SMARCA4 NDUFB9 CSPP1 AP3D1 CFHR1 LCA5 ZNF513 HLA-DRB1 PSAP C12orf65 AHI1 SMARCE1 COL11A1 CACNA1D NDUFB11 SCN3A MAB21L1 MCOLN1 EXOSC8 CFHR3 ANTXR1 LTBP2 TRAPPC11 FEZF1 PRIMPOL OSGEP NUBPL RD3 SLC39A14 CCDC47 TMEM231 LIMK1 SOX3 RTN4IP1 BIRC3 EIF2B4 JAK2 FANCL NARS2 AFF4 PDE6A IMPG2 CYSLTR2 PEX7 ELN IL12A-AS1 NADK2 LSS RRM2B PORCN THPO GNAQ ZEB1 MT-TC FGF8 FBN2 DTNBP1 EPM2A C19orf12 ADAM9 CDKL5 ALG2 UFM1 RHOA PPP3CA NDUFV2 KLRC4 KRT12 PHGDH KIF1A TELO2 TNFSF11 HSD17B10 MT-TQ PROS1 IMPG1 POLR1D CEP290 SCO2 CLIP1 CA2 CYP4V2 RGS9BP UNC119 TSEN2 SFXN4 TIMMDC1 NDUFAF8 NDUFB10 FRAS1 TRPM1 GP1BB RPGRIP1L NOD2 FBXO31 KIAA0586 COL9A2 INVS TRIM44 MBOAT7 SKI COL4A1 CNGB1 LAMP2 AAAS NDUFAF4 SCAPER B3GLCT CCDC141 PUS3 KAT6A HLA-DPB1 UBE2T SLC24A5 GLRX5 TMEM216 TFG DPP6 CLN3 MT-ND5 ADGRV1 SPTBN4 SOST MT-TH FGF12 PEX14 GNA11 PEX5 IL12A RFC2 ERCC4 DRAM2 GTPBP2 TWIST2 CC2D2A ZNHIT3 GABRB2 ARNT2 SOX10 FGFR1 CRYAA ISCA2 CLN6 ST3GAL5 TRNT1 SLC25A46 ENPP1 PRSS12 AP4B1 BRCA2 NRL TBX1 CLP1 POLR1C PAX2 NDP TRRAP RAB11B TIMP3 RSRC1 ST3GAL3 BRCA1 PRTN3 EMC1 OVOL2 DPM1 ZNF469 NYX ITPR1 HMCN1 B3GAT3 PRCD SLC24A1 SON ASPA PRNP NDUFAF2 TUBGCP6 MFF VCAN FGF17 RMRP CA4 GRN GNAT2 C1QTNF5 SETD5 TMEM67 ATP1A3 FZD4 TK2 NR2E3 TUSC3 YAP1 DCN AIMP1 TUBB2B TRAF3IP1 MT-CO2 PIGS TSEN34 FRMD7 VSX1 CLCN4 AHDC1 EDC3 GMPPA GNAS CTNS BMP4 PYCR2 ARX SAR1B SPRY4 RGS9 PITX2 SLC25A4 AHR SNRNP200 FANCE SHANK3 TTLL5 NDUFAF5 CTSD ARID1A ASB10 TMEM237 SLC1A3 CRADD RFWD3 PGK1 TGFBR3 CSF1R PARS2 LINS1 CTNNB1 SMG9 SURF1 RAB3GAP2 ABCA1 WDR11 HSPG2 PIEZO2 HPS5 ACVRL1 ARL2BP WARS2 IL17RD FANCF ADNP GRIN1 MIR184 TP53RK GABRB1 P4HTM MMP19 PRPF3 MFN2 GRK1 CLN8 PITX3 ACO2 SUCLA2 FANCG DCPS GPAA1 ITGA2B MT-TV PDZD7 COQ7 MLXIPL FREM2 FARS2 FANCI PIGC PHOX2A IKZF1 UBAC2 PIGA SARS1 CRYBB1 PMPCB YME1L1 CC2D1A FOXE3 AMPD2 MAPKAPK3 PDGFB LRPAP1 VHL CEP120 GJB6 RDH5 SNX10 ZIC1 EIF2B2 HLA-DPA1 TLR4 HLA-A PANK2 EZR HPS6 RIC1 FAN1 GRM6 ZNF423 MAF TANGO2 LOXL3 NSUN2 ARSG CHST3 TWNK SF3B1 TERT TTR PLXND1 SYT1 SDHA GRIK2 RS1 GTF2I GDF2 DHX38 IDH3A GM2A XRCC4 SOBP PDE4D RBP4 IL10 MIR204 TUBB4B COG5 IGBP1 PCDH12 COL9A1 CDC42 TSEN54 TCF12 TENM3 PQBP1 VPS13B LAMC3 HEXB GRIP1 LIM2 GATA2 HPS1 PROK2 CLCN2 TP53 KRAS NDUFAF1 FANCC AP4E1 ITGB3 HNMT HLA-DQB1 TRIO NLRP3 METTL23 WASHC4 TBL2 CIB2 OTX2 CACNA1B PEPD LMNB1 HK1 RDH11 TUBGCP2 IFT88 ESPN ARHGDIA MTTP AIP SEMA3A ANGPTL6 CWC27 NDE1 CHD7 CD109 BLOC1S3 TECR FOXC1 MKS1 POLA1 USP8 AP3B1 FDX2 HP_TELECANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELECANTHUS SNX14 VPS33A NOTCH2 EFTUD2 SOX10 MASP1 ETFB KITLG KRAS ADAT3 CHST14 LIG4 KIFBP MID1 LMX1B CCNQ XRCC4 MITF PAX3 OFD1 UBE3B KCNN3 MUSK HHAT TWIST2 ACTG1 COMT ATRX SLC26A2 DSE ATP6V1B2 PIK3R2 JMJD1C KCNH1 COLEC10 GJA1 STAC3 ADAMTS18 IFT52 NFIX SMC1A MAFB HIRA RREB1 STXBP1 ZNF148 RNF125 ZSWIM6 CRIPT HRAS NSUN2 FOXC1 ANKRD11 FOXL2 TBX1 TBL1XR1 PITX2 PIK3R1 ALG9 ERF KMT2A WDR35 TFAP2A FGFR3 CDH11 SNAI2 SRCAP C12orf57 HDAC8 IFT43 ETFDH YY1 DOCK7 NRXN1 HNRNPU ZMPSTE24 FGFR1 FLNA NEK1 MAP3K7 ALX4 PTCH2 CNTNAP2 EDN3 EDNRB CHRNG NRAS C2CD3 MAP2K2 SUFU SKI MYH3 ARL3 ARVCF PURA AKT3 HECW2 H1-4 KDM6B CDK10 DDHD2 EFNB1 DVL3 RAB23 USP9X GLI3 FBN1 SPECC1L SEC24C PTH1R ETFA PTCH1 TAPT1 ANKLE2 EBP FGFR2 FLNB TLK2 KCTD1 FGF10 IFT122 ANKH GP1BB LMNA COLEC11 GPRASP2 UFD1 ACTB RPS6KA3 B4GALT7 COL3A1 CCND2 HP_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTOSIS TWIST1 KMT2D CTBP1 SLC6A8 PHF6 NEB TCOF1 SLC13A5 ARID1B PTEN RAB3GAP1 RRAS2 NDUFV1 KCNJ11 SOST CC2D2A FGFR2 BRIP1 COL2A1 NDUFS7 TK2 TMEM138 MED25 CBL SLC52A3 TYMP YAP1 FGFR3 CHD7 COLEC10 SCN8A TGIF1 SF3B4 DNA2 WWOX GFPT1 LGI4 NDUFS3 BPTF POLG2 RAF1 IREB2 AGRN ANOS1 AK9 LMNA B9D1 COLQ MYH8 ZMYND11 HRAS ZFHX4 TFAP2A KCNH1 PDGFRB SEMA3E INPP5E PIEZO2 BCOR MT-TW TCTN2 PHYH MRAS PEX12 SLX4 FGFR1 CACNA1B TAB2 CHRNG COX8A BRAF TREX1 RAD21 COL25A1 KRT5 TPM2 ARL3 LRP12 ATRX BCS1L FANCA FOXC2 SQSTM1 KDM1A WFS1 NDUFS6 TCTN1 EDNRB ARHGEF2 FLRT3 MYH3 SLC18A3 XRCC2 KISS1R ABCC8 OPA1 FBXL3 MYO9A SALL4 SDHA DGUOK ARL13B MICU1 EEF1A2 KCNB1 CEP104 UFD1 LETM1 NDUFS8 NDUFAF3 FANCB DDC KIAA0586 TMEM126B WT1 TARDBP FANCM KITLG POLG COX6B1 DCC COX14 EP300 CLTC ALX3 ARMC9 MAP2K2 CHRNB1 GCK COMT HESX1 ZFP57 SMAD4 ERF MAFB UBA5 NDUFS2 NOP56 SOS2 DMPK HIRA ADAR CEP41 MRPS34 AKT1 IFIH1 CPLX1 CREBBP SLC25A1 PARS2 MEN1 SOS1 TPM3 MYH2 RERE NALCN GSN RRM2B NSD2 SDHD PROKR2 MAD2L2 FGD1 PACS1 NDUFA10 PLAGL1 NDUFS1 SMARCE1 CHRND MTFMT HECW2 NDUFB3 RYR1 KMT2A BDNF HUWE1 FGF12 PIBF1 RIT1 ARID2 NDUFA4 HMGB3 ALX1 PEPD FAT4 KIF21A PDHA1 KIAA0556 LRP4 KCNA2 KDM5B DNM1L DLAT HDAC8 PALB2 PEX16 TUBB6 PLEC GMPPB DNM1 COL13A1 DHCR7 KLHL41 ACTA1 CHRNA1 MASP1 CHCHD10 GRM1 MYO18B SCN3A GPC4 SC5D NDUFB8 NGLY1 PPP1CB A2ML1 MITF TACO1 SMARCD1 TGFB3 NDUFA13 MT-ND3 SLCO2A1 PIGL QRICH1 B3GLCT TUBB3 FUS KRT14 FZD2 SLC18A2 COLEC11 MYF6 PEX13 HS6ST1 RREB1 CHRNE TMEM237 PEX11B UBE3B SELENON PAH COX10 C1QBP TMCO1 ACTB PEX1 ADPRS NXN SLC12A6 TMEM107 IGF1 SOX10 COA8 KIF5A MUSK SMARCB1 AFG3L2 EED CNTNAP1 FANCD2 NF1 SDHAF1 AEBP1 BIN1 PTPN22 PEX2 TWNK CYFIP2 NDUFS4 UBA1 MARK3 MKS1 EARS2 TLK2 GP1BB REV3L ACTG1 MYH7 RAD51 CERT1 TTN SLC16A2 TET3 PLCB4 HPGD SLC17A5 LIG4 TP63 CDK8 ZIC1 VAMP1 MAP2K1 PAX3 SMC3 MT-TN TBK1 PIK3R2 NDUFV2 TACR3 ZBTB20 PTS ECEL1 NDUFA6 INS SURF1 CDK13 HOXB1 DOK7 SMC1A RAD51C DIS3L2 KRAS DUSP6 CDC42 TMEM67 NDUFA1 TBX1 TBC1D24 NDUFA11 RPGRIP1L SETD5 MYL2 LZTR1 NSMF KIF11 FLNA WNT5A TFAP2B CHAT ASXL2 FHL1 DHX37 PEX7 NDUFB9 RNASEH2A GABRA5 NOTCH3 AHI1 RRAS ZSWIM6 IARS2 C12orf65 ANKLE2 ZC4H2 HSPG2 HYLS1 GPRASP2 SLC30A9 KDM6A FEZF1 NUBPL SMS GLE1 CCDC47 TMEM231 LIPT1 PDX1 SUCLA2 FANCL NARS2 KIFBP AFF4 MT-ND2 SLC6A9 DNM2 PABPN1 CNKSR2 MED12 SLC1A2 ECHS1 MED13L STAT3 SYNE2 TH FGF8 FGFRL1 DBH SYNJ1 TRAK1 SOX11 KANSL1 PET100 NDUFAF2 SLC5A7 ROR2 ALG14 DCHS1 COQ2 SPECC1L SHANK3 GABRA2 SCO2 NDUFB11 SYNE1 SCN4A MYMK FLI1 TIMMDC1 NDUFAF8 NDUFB10 MYF5 SKI UNC80 ARVCF FOXRED1 PTPN11 SZT2 NDUFAF4 CCDC141 KAT6A RNASEH2B STAMBP UBE2T TMEM216 FARS2 MAF EDN1 HNRNPK CSPP1 SLC19A3 C9orf72 CACNA1A EFEMP2 DARS2 SEPTIN9 PREPL PEX19 ERCC4 PSMD12 GABRG2 FAR1 SGPL1 SNAP25 FOXP1 DPAGT1 NDUFAF5 NDUFA12 RNASEH1 TMEM43 DVL1 NECAP1 PEX6 JMJD1C COA3 GRIA3 AARS1 MT-TL2 CEP120 GFER TBC1D20 MTM1 PEX5 MGME1 AUTS2 BRCA2 NELFA DVL3 YWHAG NSUN2 NAA10 FOXL2 IDS COL1A2 ITCH BRCA1 CCDC115 ZEB2 SNAI2 SOX4 SIX2 COX15 MTMR14 FGF17 ARID1A CSNK2A1 RNASEH2C CFL2 NDUFA2 COX20 DHDDS SEC24C CPLANE1 HCN1 SYT2 NDUFA9 SPRY4 LAMB2 RB1 SLC25A4 SYNGAP1 SMARCC2 FANCE RSPRY1 SCO1 NDUFAF6 ATXN3 RFWD3 ACTL6B ALG2 TGFB2 TOP3A SETBP1 ATP6V1A NIPBL GLI3 CHD4 LMOD3 WDR11 FBLN5 NPHP1 PEX10 IL17RD FANCF ADNP NTRK2 LONP1 SAMHD1 SPRED1 VARS2 FAM149B1 TCF12 B9D2 RAPSN FANCG YY1 KIF1B FANCI PHOX2A GNAI3 TRAF7 UGDH LMX1B MCM5 APC NRAS MECP2 CDH23 CHN1 FOXE3 ANO10 MT-ND1 PEX26 SMARCA4 ABHD5 HACD1 ITGA7 IER3IP1 AP3B2 STXBP1 PUM1 ZNF423 DPF2 NUS1 GRIN2D PEX14 NEFL PLXND1 YARS2 RBCK1 EMD RASA2 KBTBD13 PDE4D SPR STAC3 MYPN ARV1 TENM3 MT-TL1 PAX6 CEP290 EBP BRPF1 PROK2 SLC3A1 NDUFAF1 PPP3CA FANCC GABRB2 TRIO RBM8A PEX3 VCP AIP SEMA3A FBN1 PYROXD1 HYMAI MAP3K20 ALDOA WDR73 PUF60 COL3A1 FDX2 HP_ROD_CONE_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROD_CONE_DYSTROPHY SEMA4A SNRNP200 PROM1 KLHL7 CTSD LRAT IFT172 PCDH15 NPHP1 MVK PDE6A MKKS BEST1 IMPG2 ARL6 IFT74 MKS1 CCDC28B PDE6G IFT27 USH2A BBS7 GGCX RBP3 ARL3 CA4 EYS PHYH TRNT1 MFRP PANK2 PEX26 COQ2 ROM1 WARS2 CDH23 IFT140 ARL2BP MT-ND1 TELO2 PEX7 SAG CLRN1 PEX3 CEP290 RGR ACOX1 FAM161A PDE6B SLC7A14 MDH2 BBS12 NRL ABCA4 BBS2 PEX1 FSCN2 MT-ATP6 PPP2R3C PEX12 HGSNAT OFD1 PEX13 AIPL1 RP1 RPE65 KIF5A PRPF8 USH1C MAK PRPF4 CERKL ADGRV1 IMPDH1 MAPKAPK3 ABHD12 TRAF3IP1 EXOSC2 PEX2 SRD5A3 DHDDS CNGB1 CLN3 PRCD PMM2 PRPS1 MERTK MT-ND5 PEX16 PEX11B PEX6 PEX5 ZNF408 IQCB1 REEP6 TULP1 DHX38 CRX RPGR C8orf37 NEK2 AHR FDXR WDR34 HMX1 WHRN ATXN2 POGZ BBS5 TMEM67 SH2B1 PRPF3 IDH3B MYO7A CRB1 NR2E3 AP3B2 PEX19 CDHR1 BBS4 PRPF6 SDCCAG8 USH1G BBIP1 CC2D2A PRPF31 HSPD1 TTC8 ASPA BBS1 MYO6 NDUFA9 TOPORS MT-ND4 WDR19 PEX10 PDZD7 BCS1L MT-TL1 PEX14 CFAP410 CIB2 MT-ND3 C1QTNF5 MT-TK RDH11 MT-TW RP9 MT-ND6 MT-ND2 PCARE PRPH2 GATA3 RPL10 BBS10 ZNF513 CNGA1 SLC35A2 BBS9 MT-TV CWC27 NPHP4 RHO CLDN19 KIZ GUCA1B FLVCR1 APOB RP2 HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY KCNC3 POLR3A DCTN1 PIGT MAPT ATP13A2 NPC2 SQSTM1 POLG NOP56 TWNK ACOX2 CCDC88C NPC1 ATXN1 HP_ABNORMAL_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTRORETINOGRAM RD3 PROM1 PDE6H BEST1 CNGB3 KCNJ13 REEP6 PRPF6 PDE6A KIAA1549 PRPH2 CNGA3 IFT140 GUCA1B CLRN1 PDE6G PDE6C CRB1 PCYT1A CRX TOPORS EYS BBS5 IDH3B MFRP RDH12 PIEZO2 ZNF408 SCAPER ARL2BP CABP4 AIPL1 MYO7A RLBP1 PDE6B TRIM32 NUP62 AGK USH2A OPN1LW SAG USH1C VSX1 MCOLN1 RGR PRPF3 WHRN ACOX1 SPATA7 RPE65 SUCLA2 NRL SLC7A14 MKS1 ABCA4 RHO ADAR PDZD7 PPT1 AGBL5 POMGNT1 GUCA1A WWOX BBS4 PEX12 RPGR HADHA RPGRIP1 RP1 OPN1MW TRPM1 RBP3 CNGB1 CERKL ZNF513 IMPDH1 CACNA1F IQCB1 CACNA2D4 LRAT TPP1 RDH5 AHI1 WDPCP CDH23 OFD1 CLN3 PCDH15 HSD17B4 ATF6 PRCD PEX1 USH1G ADGRV1 ARL6 HARS1 BBS12 PNPLA6 CEP290 CDHR1 ARSG RNF216 CEP104 CNGA1 DHDDS SLC25A4 LCA5 GDF6 KIZ IFT27 RS1 ALG3 BBS10 SDCCAG8 PRPF8 DHX38 IDH3A CAPN5 NEK2 NR2E3 BBS9 MAK PDE6D BBS2 RP9 BBS7 KLHL7 TULP1 LZTFL1 C8orf37 CEP78 RP1L1 TIMP3 BBS1 EMC1 TIMM8A CHM RP2 IFT172 POGZ NMNAT1 FAM161A OPN1SW MKKS ROM1 GUCY2D MT-ATP6 USP45 CIB2 PRPF4 LARGE1 NPHP1 CA4 TUB GNAT2 TTC8 SEMA4A ARL3 SNRNP200 IFT88 PCARE ESPN TKFC NOTCH3 FSCN2 MERTK BBIP1 HGSNAT IMPG2 PGAP1 FLVCR1 PRPF31 ARHGEF18 AHR MT-TS2 GNB5 HP_SLOW_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_SACCADIC_EYE_MOVEMENTS MRE11 DARS2 PIK3R5 MAPT ELOVL5 ATP2B3 ATXN2 TMEM240 CHP1 ATP13A2 NOP56 ATXN1 ATXN8OS PRNP FBXO7 VAMP1 GBA PEX2 GJC2 PLD3 ALS2 SNCA PDYN AFG3L2 AGTPBP1 ATXN7 HP_ABNORMALITY_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LENS BAP1 SDCCAG8 MTAP KCNJ13 KCNAB2 POMT1 ARHGAP31 MT-CO1 PTEN REEP6 RAB3GAP1 KIAA1549 ERCC3 MEFV CLRN1 BRIP1 CRYGD COL2A1 MED25 PCYT1A SALL4 YAP1 EYS KCNH1 OPA3 GJA1 ADAMTS18 RDH12 RAB3GAP2 PEX1 GLA WDR35 CC2D2A CCR1 MT-TL1 PTCH1 SEC23A GALK1 USH1C FAM111A FTL MT-TK RNF113A TFAP2A GSR SMCHD1 XRCC4 RPGRIP1 SLC7A14 GNAS RLBP1 PHYH PEX12 SLX4 PEX10 ESCO2 PTCH2 OCLN AGBL5 WRN POMGNT1 BCOR SUFU AGA RAD21 C4A BUB3 CEP290 ERCC2 PAX6 ALDH18A1 BEST1 COL11A1 SALL2 FANCA RET LAMB1 CRYGB TBR1 TRAPPC11 CYP1B1 PEX7 BRF1 VIM FAR1 COG4 RAB18 GEMIN4 PHGDH GJB6 IQCB1 XRCC2 CRB1 TBC1D20 TMEM67 KRT71 PTPN22 ABHD12 OCRL EBP SRD5A3 FAM126A OFD1 ATAD3A TINF2 NPHP1 USH1G ARL6 GTF2IRD1 CLPB UFD1 FANCB CDHR1 FAS UNC45B HNRNPA2B1 WT1 PIGY COL18A1 CEP57 CNGA1 FANCM DHDDS TAP1 POLG ERCC6 NF2 RNF13 TONSL MT-TW C12orf57 EP300 SUMF1 ALX3 B3GALNT2 NEK2 ITPA MAK PHF6 CLIP2 COL4A3 BBS2 COMT POMT2 WDPCP FKTN PEX5 PLK4 PEX11B CRPPA SIL1 DNMT1 PEX26 IL23R TULP1 SMAD4 FOXE3 ERAP1 C8orf37 NEU1 NOTCH1 DMPK PTH CEP78 HIRA DKC1 NR2E3 PEX19 AKT1 CERKL CREBBP MMP1 SEC23B FYCO1 WDR34 HBB GSN TBC1D24 GJA3 TERT HLA-B MT-CYB WNT3 ADAMTS10 PEX2 MAD2L2 DDB2 ARSL ANAPC1 CRYBA4 PRPF4 BCS1L GUCY2D DYNC2H1 FBN1 TUB VSX2 PEX13 SMARCE1 TTC8 CHSY1 KIAA1109 RP9 XYLT2 KMT2A BDNF COL5A2 LAMB2 MKS1 ARID2 PAH RHO HGSNAT ALX1 ERCC4 FLVCR1 CTC1 DNM1L MT-ND6 KIF1B ARHGEF18 PMM2 KRT6A RP1 RECQL4 SMAD3 HDAC8 PALB2 ALG2 PEX16 SLC33A1 OTX2 SIX6 MT-ND1 SDHD RP2 PIK3CA DHCR7 OAT CHRDL1 MAF VHL SC5D GBA2 NPHP3 FKRP SMARCD1 NUP188 ERCC5 RPS6KA3 ALMS1 GUCA1B PDE6G CCDC28B ZNF335 HSF4 B3GALT6 B3GLCT PRDM16 ERCC1 COX7B IDH3B MFRP B4GALNT1 POMGNT2 LMNA KRT81 GDNF ALDOB RREB1 PDE6B MT-TE ZNF408 LOXL1 NACC1 GTF2H5 PEX3 TMEM216 PNPT1 HTRA2 SPATA7 POMK RPE65 UBA5 IKBKG WDR60 SMARCB1 MYO7A EED BFSP2 RPGR FANCD2 LARGE1 LTBP2 GNPAT MAB21L2 PLCG2 TWNK POLG2 DGUOK NAA10 BAZ1B CENPF PTH1R CYP7B1 GMPPB COL4A5 PCDH15 KCTD1 ACTB GP1BB MIP MIPEP MVK CASK ENTPD1 ARID1B RAD51 GALT NPHP4 JAG1 COL4A4 COL9A3 SLC25A4 LIG4 CRX RGR ADAMTS17 EPG5 APC NAGA ZBTB20 NHS FGF5 AIRE STAT4 KLHL7 CBS TCOF1 FH CEP164 CRYGC ADAMTSL4 RAD51C CDH23 BTNL2 FOXC2 SDHB TBX1 USH2A SETD5 JAM3 IFT172 KCNA4 BMP4 KIF11 FOXC1 BBS1 NMNAT1 FAM161A CRYGS CRYAB PARN EOGT ALDH6A1 SLC40A1 ATP6V1A SLC16A12 KDSR VCP ARL3 LRAT GABRD TGFBI WDR19 TDRD7 MERTK P3H2 HLA-DRB1 DPAGT1 IARS2 CNGB3 BUB1B HSPG2 RD3 LIMK1 MPLKIP FBN2 FANCL AFF4 PRPF6 IMPG2 SUOX AMMECR1 CYSLTR2 PRPH2 IFT140 ELN IL12A-AS1 LSS CEP55 RRM2B PORCN CRYBA1 ATP6V1B2 WRAP53 MT-TC GFER XPC RHOA SOX11 KANSL1 AIPL1 KLRC4 CRYBA2 ERCC8 PEX6 AGK TELO2 BFSP1 POLR1D LIPH TMTC3 GNAQ MYMK DOCK6 LRP2 MYSM1 FLI1 MAN2B1 WFS1 MIR140 NOD2 ARVCF DLL4 PITX2 COL9A2 INVS PRUNE1 TRIM44 B9D1 SKI RBP3 COL4A1 CNGB1 SDHC RBPJ ZNF513 ABHD5 FIBP SCAPER MT-TQ UBE2T PXDN CLN3 LMX1B HNRNPDL SMC1A ADGRV1 SLC2A1 VLDLR PEX14 GNA11 MYH9 IL12A RFC2 INPP5K CFAP410 CDH11 DHX38 GTPBP2 LCA5 KIZ KRT16 MOCS2 PRPF8 HMX1 MSMO1 CRYAA PMPCA KRT86 JMJD1C TMEM70 LRP5 ABCA4 MT-TS2 FLNA ASPH FGF3 BRCA2 RXYLT1 NRL GJA8 GJB4 NSUN2 POLR1C GJB3 PROM1 PIK3R1 BRCA1 CSPP1 KRT25 WDR81 ZEB2 IMPDH1 TCTN2 SOX4 CPAMD8 TARS1 ETFDH PRCD TGM3 PNPLA6 ATP8A2 STX16 COL5A1 NDP VCAN ARID1A CA4 PIK3C2A POLR3A CPT2 FZD4 B4GAT1 BUB1 DAG1 PCARE TKFC TRAF3IP1 USP9X SEC24C MAX TMEM107 COL7A1 CRYBB2 RB1 AHR ALG8 OPA1 AMER1 USP45 PAX2 RSPO2 FANCE HNRNPA1 SMARCC2 NOP10 IFT80 RFWD3 SPRTN SHROOM4 GCNT2 TMEM127 NIPBL TOPORS CAV1 DSG4 CHMP4B ARL2BP TUBG1 CRYBB1 CTDP1 INTS1 CRYBB3 FANCF ADNP EXOC6B LONP1 LEMD2 ITM2B TRIP13 MT-CO3 MIR184 EPHA2 ATOH7 PRPF3 WHRN FIG4 SMC3 GTF2E2 PITX3 FANCG RERE MT-TV PDZD7 CA8 KRT74 SALL1 INPP5E CYP27A1 FANCI NEK9 UBAC2 MORC2 UBE2A LPAR6 TAPBP ANO10 RTEL1 ABCA12 RDH5 SMARCA4 AHI1 RPGRIP1L ETFA SAG MOCS1 NDUFB11 PLOD3 TLR4 SLC25A13 HLA-A CNBP HARS1 RIC1 FAM111B DPF2 AASS LOXL3 NOTCH2 ARSG SLC4A4 DACT1 SF3B1 ETFB KLLN TUBB2B GDF6 MT-CO2 MT-TF GTF2I XPA LRP4 IDH3A KCNN3 KRT83 B9D2 IL10 MIR204 NPM1 COL9A1 VPS13A PQBP1 LIM2 BBIP1 TERC TAP2 TRPV4 RS1 KRT17 TUBGCP6 MT-ND5 ABCA2 FANCC FBXL4 COL1A1 ROM1 TBL2 CIB2 MAP2K2 MAFA HCCS FLNB SEMA4A AP1S1 RDH11 SNRNP200 IFT88 VAC14 SIPA1L3 ESPN USF3 FSCN2 ELP4 NHP2 TMEM231 PSAT1 TKT USB1 PRPF31 KRT6B PDE6A USP8 WDR73 HP_DEVELOPMENTAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_CATARACT PIGY MPLKIP VHL ETFB AGK MT-CO2 MT-CO1 MT-TF RAB3GAP1 MT-TW OCRL EPG5 RAB3GAP2 NUP188 LSS CRYGD MSMO1 MIR204 GCNT2 TMEM127 CRYAA CRYBA1 MED25 PEX5 GTF2H5 PEX11B NHS SIL1 MT-TC CAV1 IARS2 GFER ALDH18A1 ERCC3 PNPT1 PHGDH TBC1D20 MT-TS2 MT-TK MT-TL1 CRYGC CTDP1 GDNF CRYBA2 CRYBB3 TELO2 LONP1 SDHB LEMD2 MT-CO3 FAM111A GJA8 MIR184 ERCC2 LMNA EPHA2 GTF2E2 FAM126A RNF113A KCNA4 RAB18 TARS1 ETFDH MT-ND5 ABCA2 MT-CYB COL18A1 MT-TV CRYAB WFS1 MAP2K2 MAFA BFSP2 PIK3C2A BCOR COL11A1 SIPA1L3 CRYBB1 RET CRYGB UBE2A KCTD1 PEX7 COL4A1 MT-TQ MAX ETFA DOCK6 COL4A5 MAF MT-ND6 KIF1B SDHD CRYBB2 MIP POMT1 RIC1 SLC33A1 ENTPD1 MT-ND1 HP_PROPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPTOSIS SMS FANCE FGFR3 SLC39A14 CTBP1 DHCR7 PDGFRB GDF1 PHGDH RTTN B4GALT7 KRAS STAG2 ATXN3 FANCL AFF4 PTEN RFWD3 A2ML1 FGFR2 SOX9 SETBP1 RRAS2 CLP1 TGFB3 FLNB CTSK CTLA4 TBX1 PARS2 NXN HERC1 BRIP1 COL2A1 CDK5RAP2 RNU4ATAC B3GALT6 COG4 TCF12 SLC29A3 INSR FGFRL1 FZD2 BPNT2 GATA6 SH3BP2 WASF1 BANF1 LMNA PIK3CA COL11A2 CANT1 TNFRSF11A BGN COL11A1 FANCF EXOC6B TSHR ROR2 FGFR1 SHH AKT1 RSPRY1 ABCA12 GATA4 FIG4 DYNC1I2 NLRP3 MMP2 TTC37 FANCG NIPBL MYD88 CKAP2L ASXL1 LRP2 MRAS SLX4 P3H1 ESCO2 MAN2B1 RECQL4 DVL1 FLT4 FAM20C LETM1 PLAGL1 PCLO FANCI SKI POR NFIX FANCD2 FANCA PRUNE1 APC NRAS GZF1 KLHL7 JAG1 DVL3 SPECC1L NAA10 ASPM PDGFB TAF1 SEC24D XRCC2 ITCH NKX2-5 CBL PTH1R KCNJ6 CDON HYMAI ZFPM2 THRB TRAF7 IGF2 CRTAP HLA-DPB1 UBE2T HLA-DPA1 SUFU WNT5A SHPK PLOD3 P4HB SOS2 SOST FANCB NF2 FLNA NKX2-6 SH3PXD2B MAF RAD51 SLC16A2 BAP1 FANCM ERCC4 TERT CDH11 NOTCH3 SMO ADAMTS10 SLC39A13 FLI1 FOXC1 LRP4 EP300 ZMPSTE24 ERF NSD2 RASA2 MUSK EXTL3 GNPTAB BRAF PLK4 IFT81 TWIST1 MAFB AUTS2 RAD51C BRCA2 TGFBR2 NELFA SMARCB1 CRIPT PTPN22 CPLX1 ALPL CREBBP ELMO2 DDR2 CITED2 ZIC1 BRCA1 SOS1 ALG9 FGF9 PRTN3 XYLT1 WDR4 LZTR1 PTPN11 GATA5 MAD2L2 FANCC SLC25A24 NBAS PPP2CA ASXL2 SERPINH1 KCNQ1OT1 FBN1 POLD1 RAF1 PEPD TCTN3 TGFB1 GJA5 EFEMP2 VAC14 CDKN1C RIT1 MITF CDC45 TGFBR1 KCNQ1 SMARCE1 RRAS PSAT1 COL1A1 NDE1 SMAD3 PALB2 COL3A1 HP_ALACRIMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALACRIMA FGFR3 GMPPA FGFR2 ELP1 FGF10 DST NGLY1 PAX1 SOX10 AAAS CLDN10 TRAPPC11 SETBP1 HP_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCAPSULAR_CATARACT ARL3 EYS OPA3 OAT LRP5 ADAMTS18 IMPDH1 ZNF408 REEP6 ABHD5 CHMP4B FOXC1 DMPK ABHD12 TONSL SPRTN IMPG2 FOXE3 ARL2BP ALMS1 PAX6 FZD4 GJA8 CNBP PITX2 NF2 UNC45B OFD1 TULP1 RBP3 CYP1B1 HP_ABNORMALITY_IRIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_IRIS_MORPHOLOGY TYRP1 BAP1 CTBP1 TMEM231 LIMK1 KCNAB2 FANCL FBN1 PTEN FGFR2 NF1 PNPLA6 CYSLTR2 LARGE1 ELN MC1R KIT PITX2 CLRN1 FOXH1 OVOL2 PWAR1 BRIP1 CEP55 GMPPB PORCN TMEM138 GNAQ CRYGD ZEB1 SALL4 FGFRL1 MMP14 GJA1 GRHL2 CHD7 DTNBP1 PAX6 PEX1 CC2D2A GPC3 PTCH1 RHOA PEX6 B9D1 USH2A HRAS USH1C POLR1D PCYT1A COQ2 SLC45A2 LIPH TFAP2A SMCHD1 SEMA3E RPGRIP1 HPS4 INPP5E BCOR LTBP2 TCTN2 LRP2 SLX4 PEX10 FLI1 PTCH2 SIX3 GAS1 GPR143 NRAS LDHD SUFU SDHA POU6F2 AP3D1 CEP290 RPGRIP1L ARL3 MYOC FANCA GZF1 TGIF1 TRIM44 NDN TBR1 PEX12 FGFR1 CRYGC LYST KRAS SKI COL4A1 TCTN1 EDNRB AAAS SLC25A11 XRCC2 TMEM67 TRIM28 KRT71 B3GLCT WT1 TBX2 FGF8 OCRL UBE2T SLC24A5 AHI1 ARL13B TMEM216 MAGEL2 USH1G ADGRV1 CEP104 GTF2IRD1 COL8A2 LETM1 FANCB TDGF1 KIAA0586 SNORD115-1 MYH11 TMEM237 PEX14 GNA11 FANCM RFC2 ERCC4 KITLG NOTCH3 ERCC6 DLST REST FOXC1 RBP4 SMAD3 C12orf57 ALX3 NSD2 ARMC9 POMGNT1 POMT1 SIN3A STIM1 SNRPN MMP2 CLIP2 POMT2 WDPCP CRYAA PMPCA POMK CRPPA MLPH FOXE3 ERF DIS3L2 OCA2 RAB27A LRP5 MITF MAFB CEP120 PEX5 ASPH FGF3 CEP78 TRIP13 BTD CEP41 BRCA2 SHH AKT1 NELFA SOX10 RXYLT1 GJA8 CPLX1 NAA10 TGFBR1 POLR1C PIK3R1 BRCA1 RERE CSPP1 KRT25 ZEB2 MDH2 ITPR1 SNAI2 CPAMD8 ELP1 MKS1 PEX2 MAD2L2 NDP VPS13B PRPH2 NODAL PEX13 SOX2 TGFBR2 B4GAT1 PWRN1 XYLT2 YAP1 BDNF IMPG2 MYLK RET PIBF1 LAMB2 H19 CYP1B1 VSX1 PDE4D GMPPA IGF1R IMPG1 GDF3 MAF ROR1 CPLANE1 SOS1 TMEM107 DLL1 RB1 PALB2 ALG2 SIX6 FKRP PAH RSPO2 FANCE DHCR7 CHRDL1 ATP6V1A AMACR SDHB SDHAF2 VHL SMO PEX16 RFWD3 WNT10B HHAT CDON PRDM16 COX7B NOD2 KIFBP POMGNT2 NPHP1 HPS5 SDHD CRYBB1 MBTPS2 MYO7A SDHC FH FANCF ADNP PEX26 TGFB2 NPAP1 LOXL1 MIR184 ATOH7 WHRN ACTB ZIC2 PEX19 SEM1 FANCG ACTA2 PRKAR1A KIAA0556 SMAD4 UBE3A PDZD7 ANK1 PRKG1 MLXIPL KRT74 SALL1 FANCI FANCD2 DISP1 LMX1B MAB21L2 CHN1 LPAR6 BAZ1B EDN3 CENPF MYO5A NDUFB11 CDH23 HERC2 PCDH15 HPS6 ACTG1 HARS1 ZNF423 RAD51 TYR NOTCH2 ARSG WNT3 DACT1 SF3B1 PEX11B GATA1 SRD5A3 ADAMTS17 GTF2I ALG3 PAX3 MFAP5 EPG5 MPDZ IGBP1 B9D2 LOX FAM111A POGZ MPZ TGFB3 TCOF1 TINF2 TBX22 TENM3 ADAMTSL4 CRYBA4 RAD51C MKRN3 GLI2 TMEM127 ADAMTSL1 HPS1 WASHC5 CCDC22 BMP4 SNORD116-1 FLNA FANCC EPS15L1 BTRC ARL6IP6 DAG1 TBL2 CIB2 HCCS MAX GABRD KIF1B TP63 ESPN KCTD1 FKTN ELP4 B3GALNT2 PEX3 BEST1 BLOC1S3 MAT2A PHOX2B UROC1 DLX6 HYLS1 MT-TS2 TRAPPC11 DLX5 WDR73 PUF60 AP3B1 CRYBB2 COL3A1 BLOC1S6 HP_ANIRIDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANIRIDIA MDH2 ITPR1 DLST SDHB REST SDHAF2 VHL WT1 PAX6 EPS15L1 BTRC WNT10B NF1 LDHD SDHA POU6F2 MAX FAM111A KIF1B TP63 PORCN TRIM44 RET H19 FOXE3 ELP4 DIS3L2 CHN1 MAFB SLC25A11 TRIM28 SDHD GPC3 TRIP13 SALL4 FOXC1 DLX6 SDHC FH BRCA2 TMEM127 DLX5 PITX2 SEM1 HP_LONG_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_EYELASHES ABCC9 VPS33A SHANK3 ARID1A SMARCC2 FRMD4A AFF4 ARID1B LTBP3 PNPLA6 SLC6A9 SMC3 EP300 SMARCD1 CLP1 FBN1 KCNN3 DVL1 SRCAP NXN BRCA1 MOGS NIPBL FGF5 ATP6V1B2 SMC1A FZD2 KCNH1 KMT2A HSPG2 TAF6 RPS23 SOX11 SMARCA2 PUF60 DVL3 SHOC2 SLC3A1 ROR2 KCNK4 CREBBP KCNJ8 OTUD6B PREPL TMCO1 DENND5A ORC1 SETD5 PACS1 SOX4 HDAC8 CTDP1 DOCK7 WNT5A TAF1 CTCF MGAT2 SMARCE1 KDM6A SMARCB1 VPS13B RUSC2 KMT2D RAD21 SLC25A24 NOTCH2 NAA10 EGFR SMARCA4 FBXO11 MAB21L2 VARS1 ARHGEF2 ARID2 PPM1B TENT5A MAN1B1 BMP1 TBX4 MAB21L1 STAG1 DPF2 MAF CAMKMT HP_ANOPHTHALMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOPHTHALMIA TFAP2A POMK SMCHD1 SEMA3E TCTN2 SH2B1 RPGRIP1 BMP4 BCOR SMOC1 DOCK7 KIF11 SIX6 RBP4 FRAS1 DAG1 FREM2 FANCB LARGE1 SOX2 FREM1 SHH STRA6 CEP290 POMGNT1 FKRP CEP55 B9D2 COX7B POMT2 B4GAT1 WDPCP PORCN KIF7 B9D1 COL4A1 CRPPA MAB21L2 FKTN RAX CHD7 POMGNT2 MKS1 HCCS B3GALNT2 CC2D2A TMEM67 TMEM231 RPGRIP1L TMEM107 RXYLT1 NDUFB11 RARB GLI2 NAA10 GRIP1 POMT1 HYLS1 TMEM216 CSPP1 OTX2 HP_PROGRESSIVE_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_LOSS NPHP4 COL18A1 BAP1 SDCCAG8 TREX1 TERT RHO CLN5 SMO MT-CYB RS1 NPHP3 CFH PRPH2 PEX7 CTNNB1 BRAF MT-ND1 MT-ND2 CLN6 APOE GUCA1A MT-ATP6 SH3BP2 MT-CO1 C19orf12 MT-CO3 SLC25A46 PIK3CA TNFRSF11A NEU1 TGFBI CEP164 DNM1L RP1L1 CDHR1 CARS2 SMARCB1 OAT ZNF408 IFT140 AKT1 NDUFS2 PCYT1A MEN1 MFN2 CLN8 PNPLA6 CEP290 CHM HMCN1 CYP4V2 RLBP1 ALMS1 UCHL1 MT-ND4L LRP2 PHYH GJB2 IQCB1 PPT1 MT-ND4 OPA1 ARL3 ATP1A3 RDH11 INVS FA2H GUCY2D RAX2 DCN TRIM44 CFI TRAF3IP1 ATXN7 CDH23 AIP CFHR1 PDGFB TPP1 GJB6 RDH5 SMARCE1 MMP1 TRAF7 WDR19 SUFU CLN3 C8orf37 NPHP1 MT-ND5 CFHR3 PRPS1 MERTK SON COL7A1 EPRS1 SEMA4A MT-ND6 SOST NF2 HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY PAX2 PEX14 PORCN JAG1 DACT1 OAT TMEM216 TMEM231 TMEM237 PEX11B TSC2 INPP5E RBP4 PTEN PEX16 CC2D2A C12orf57 EP300 POU3F4 LARGE1 KIF11 UBE3B FKRP HHAT CEP55 B9D2 COX7B CRB1 WDPCP TMEM138 HLA-DRB1 COL4A1 SALL1 GUCA1A ZEB1 CRPPA SLC25A15 CRX EYS PAX6 GRHL2 ADAMTS18 POMGNT2 SALL4 MAFB HCCS PEX1 PEX5 TBX22 PRPH2 SHH VPS13B AKT1 RXYLT1 PEX6 MT-TE SEMA3E ZNF408 ACVRL1 PEX26 CEP290 NAA10 CREBBP CHD7 SAG MT-TK ACTB PNPLA6 OVOL2 RERE CSPP1 PEX19 CLCN2 WASHC5 ZEB2 POMK TCTN2 CCDC22 RPGRIP1 TUBGCP6 NRL CYP4V2 BMP4 BCOR ALMS1 MT-TL1 TMEM67 PEX10 RNF216 FSCN2 TSC1 DAG1 VCAN PEX13 HADHA POMGNT1 RPGRIP1L ROM1 BEST1 POMT2 B4GAT1 CLDN19 GZF1 GUCY2D YAP1 PEX12 IKBKG B9D1 FKTN TEAD1 CHN1 VSX1 MKS1 B3GALNT2 PEX3 NDE1 NDP CHM GDF3 TUBGCP4 TMEM107 OCRL NDUFB11 DPP6 PEX2 POMT1 HLA-A COL8A2 CASK ZNF423 SIX6 RP2 HP_CHORIORETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_ATROPHY SLC25A15 PAX2 CRX EYS JAG1 TEAD1 OAT NRL CYP4V2 NDE1 PRPH2 CRB1 CHM FSCN2 VCAN ZNF408 ACVRL1 GUCY2D HADHA SAG ROM1 GUCA1A HP_ABNORMAL_EYEBROW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYEBROW_MORPHOLOGY WNT10B SMS APCDD1 KMT2D PIGY CCDC47 CTBP1 TMEM231 LRP1 PRRX1 FRMD4A KCNAB2 RPS28 SGSH KIFBP AFF4 ARID1B HEPHL1 CCNK LTBP3 PNPLA6 EDA2R CLP1 UBE3B HR STAG1 TWIST2 LPAR6 MED13L TMEM138 MED25 ATP6V1B2 RAG2 PKP1 WRAP53 SMC1A FGFRL1 KCNH1 PUS7 COLEC10 COX7B KMT2A NRAS SHOC2 CHST3 BANF1 SF3B4 TTC7A SOX11 BPTF LSS B9D1 TRIM32 HMGA2 KCNK4 WDR26 SPECC1L SHANK3 NECTIN1 RAI1 SMARCA2 RPL21 LIPH EDARADD VPS33A HSPA9 INPP5E TBCD KIT HDAC8 EDNRA TCTN2 FLI1 MAN2B1 OTX2 MITF CLDN1 EDN3 BCOR DSG4 STRADA FAM20C SMARCB1 BRAF BBS4 PAX3 MEGF8 RAD21 HGSNAT NFIX RPGRIP1L MBD5 ARL3 ABCA12 RERE UQCC2 CDH3 KDM1A KLHL7 MAPK1 MASP1 SPINK5 EXT1 SMCHD1 CTU2 HBA1 BRF1 LRPPRC IQSEC2 SKI FAR1 SZT2 TCTN1 ASPM GJB6 MED13 TAF1 KRT71 PTPN22 CPLANE1 DHX30 CDON GNPTAB IL1RAPL1 LEMD3 ZSWIM6 EDA HERC1 DCAF17 AHI1 ARL13B TMEM216 TINF2 ASXL3 MAF DCLRE1C LMNA HNRNPK MBTPS2 CEP104 LARP7 LETM1 KIAA0586 PIGV TMEM237 RAC1 RBM10 TRIO PSMD12 CDH11 GTPBP2 SLC9A6 ZMPSTE24 CC2D2A BBS10 DPF2 C12orf57 EP300 SUMF1 DSP NSD2 ARMC9 ANKRD11 DEAF1 BBS9 SIN3A CUL7 PHF6 BBS2 KCNMA1 KRT86 RMRP FUCA1 CEP120 ITGA3 LZTFL1 TTI2 WNT10A NANS SOS2 AUTS2 CDKL5 BCR CEP41 TBCK SNRPE STXBP1 NELFA SETD5 SYT1 SOX10 RNF125 TGM1 CRIPT STAG2 CPLX1 NSUN2 CREBBP OTUD6B TMEM94 MN1 TRRAP COL1A2 UGP2 DNAJC21 COG6 KRT25 WDR35 ZEB2 EHMT1 PHF8 TMCO1 TERT SOX4 B3GAT3 FREM1 CHRNA7 TRPS1 ELN KCNK9 SULT2B1 SLC25A24 NBAS MKKS KDM6A ANAPC1 VPS13B PACS1 ARID1A CSNK2A1 TALDO1 RIN2 SMARCE1 POLR3A NAA10 HECW2 RECQL4 XYLT2 ARL6 PIGN PIGS PIBF1 ARID2 HDAC4 CDC45 ALX4 XYLT1 DOLK IGF1R KRT74 MAGEL2 DSC3 ALX1 PYCR2 SOS1 ARX BCL11B CTC1 ITGB6 CWF19L1 SON EPS8L3 LIPN PGAP2 MEIS2 PDE6D RAG1 SMARCC2 FGFR1 SDR9C7 TTC8 CCDC8 TRMT1 PPP1CB KRT17 ABCA5 CHD1 SLC1A4 TCTN3 NOP10 NF1 ZBTB20 SNAI2 SMARCD1 NUP188 KRAS SETBP1 RNU4ATAC NIPBL GNE CYP4F22 SLC29A3 PRDM16 MEF2C BBS5 HSPG2 GNS NPHP1 COLEC11 CSPP1 KRT81 UROS KANK2 INTS1 SCARF2 LAS1L COL11A1 FRAS1 EDNRB UBE2A SEMA3E BMP2 PEX6 CHD7 GPR101 RIPK4 CHSY1 FAM149B1 FIG4 SMC3 ACTB TRMT10A TP63 LIG4 MKS1 DLX4 YY1 IL7R TMEM67 GJB2 KIAA0556 NAGLU NIPAL4 MLXIPL AIP LZTR1 RUSC2 SOX18 PPP2R3C UGDH EDAR AIFM1 ABCC9 FGF3 AEBP1 SLC39A4 ADA OBSL1 MAP2K1 RTEL1 KMT2C WAC SMARCA4 DOCK7 SLC45A1 ASXL1 WDPCP ALOXE3 SMOC1 FOXP2 FBXO31 TBX4 EBP CYFIP2 ACTG1 TRAPPC9 BBS12 CEP290 ZNF423 KRT85 NOTCH2 CERT1 PCNT ADAT3 IFT27 ZIC2 ZNF711 LMX1B SDCCAG8 FBN1 PPP1R15B MAP2K2 KCNN3 KRT83 IRX5 CRKL ANTXR1 ST14 NPM1 ECEL1 KREMEN1 BBS7 IARS2 KIF7 PIGO CDC42 TAF6 RPS23 KIAA0753 DPH1 DNMT3A KLF13 ACER3 PIGL PQBP1 PACS2 PUF60 KCNJ8 BBS1 EBF3 TERC NECTIN4 CAMK2G FLII MAP3K7 IL2RG ALOX12B HNRNPU APTX TFAP2B FBXL4 MGAT2 PARN ASXL2 AHSG CTCF SLC6A17 ERMARD C8orf37 PIGW TGDS PHIP MAN1B1 TUBGCP2 GABRD RET VAC14 FHL1 CDK10 KNL1 BBIP1 NHP2 OFD1 SLC35A2 CWC27 FAS JUP ATRX SMAD4 IDUA IFT172 CUL4B USB1 NFIB MAB21L1 PGAP3 HYLS1 WNT4 GPRASP2 SPATA5 DKC1 ERLIN2 POLA1 TBX3 RPS6KA3 B4GALT7 GUSB COL3A1 HBA2 PEX1 HP_EPICANTHUS_INVERSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS_INVERSUS COLEC11 COLEC10 KAT6B HUWE1 PEX6 MASP1 FOXL2 SIX2 HP_ABNORMALITY_OF_REFRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REFRACTION PPM1D SMS BAP1 HACE1 GLE1 PIGY SMARCAL1 CCDC47 PDGFRB SLC12A6 SLC6A8 LIMK1 PDE6H MPLKIP AMMECR1 KCNAB2 POMT1 WDR35 FBN2 FANCL FBN1 AFF4 ARID1B PTEN FGFR3 COL9A2 TCF4 SAG MYO5A ARL6 CYSLTR2 CNGA3 KIF11 MAG ELN UBE3B OPTN CLRN1 PRSS56 PWAR1 BRIP1 GMPPB COL2A1 ZNF644 ATRX MED13L MED25 CRYGD ZEB1 KMT2B CHMP1A NSD1 SLC39A5 IFT122 GJA1 GRHL2 COX7B CACNA1G NRAS PRDM5 CACNA1F NFIX FKTN OPN1MW RAD50 RHOA KANSL1 BPTF AEBP1 CRYBA2 ERCC8 ZSWIM6 AGK USH2A WDR26 USH1C FAM111A PCYT1A OGT SHANK3 NT5C2 B3GALT6 RNF113A KERA RAI1 SLC35A2 TFAP2A KDM5C CHST14 CYP4V2 GATAD2B GNAQ LTBP2 UCHL1 KCNH1 LRP2 SLX4 CLDN16 CTCF MAN2B1 GJC2 FKRP POMGNT1 TRPM1 BRAF SKI MIR140 RAD21 MBD5 RPGRIP1 FLCN SLC39A8 COL11A1 KIAA0586 MYOC FANCA H1-4 GZF1 KLHL7 CABP4 NDN DSE FANCI CRYGC SCO2 FBXO11 IQSEC2 COL4A1 TEAD1 VARS1 NOG SDHC ARHGEF2 ARR3 CHD3 TAF1 FIBP XRCC2 GPR179 TRAPPC11 KCNV2 UBE2T CPSF1 ATAD3A MAGEL2 ATF6 SMC1A USH1G ADGRV1 GTF2IRD1 LRIT3 COL8A2 FANCB SNORD115-1 PIGV TBC1D23 RPL10 GNA11 GPR143 COL18A1 SH2B1 RBM10 FANCM RFC2 ERCC4 PSMD12 ERCC6 ADAMTS10 GTPBP2 TWIST2 PPP2R5D FOXP1 DPF2 C12orf57 EP300 B3GALNT2 ACOX1 ANKRD11 DEAF1 SIN3A SNRPN LMNA CSTA CLIP2 COL4A3 POMT2 POMK TBC1D7 SLITRK6 SMAD4 TCF20 TRNT1 ERCC3 OCA2 ENPP1 SOX5 ATP6V0A2 DMPK CRB1 CEP78 BTD GRM6 BRCA2 AKT1 STXBP1 SETD5 SYT1 NMNAT1 GJA8 CRIPT BEST1 NSUN2 PDE6C CREBBP FOXL2 TMEM94 PAX2 RAB11B COL1A2 SEC23B DNAJC21 RPGR PIK3R1 BRCA1 EMC1 TIMM8A CC2D2A OVOL2 RERE ZNF469 NYX PTPN11 TBC1D24 CNGB3 GNPTG C8orf37 TARS1 ELP1 B3GAT3 MAD2L2 SON TCTN2 FGD1 SLC24A1 SLC25A24 NBAS FKBP14 COL5A1 WDR19 CHAMP1 VCAN VPS13B PACS1 RMRP KIDINS220 POLR3A ELOVL4 KIAA1109 NEK1 CLDN19 PWRN1 XYLT2 CRYAA DAG1 USP7 KMT2A HUWE1 PIEZO2 TKFC ABCC6 ALDH3A2 PIGT COL5A2 CYP1B1 TFAP2B VSX1 AHDC1 USP9X CDC45 TUB EIF2S3 BMP4 TTC8 MAF BCL11B KDM5B ERBB3 PITX2 NR2F1 PMM2 XYLT1 HDAC8 PALB2 PGAP2 TRIT1 SDHD RP2 CHST6 FANCE PIK3CA OAT CHRDL1 ACSL4 ATP6V1A RECQL4 RFWD3 KRAS MC1R SRCAP CCDC28B HERC1 MSX2 NIPBL B3GLCT GTF2H5 SYNE1 CHD4 PRDM16 NEUROD2 MFRP PLOD1 HSPG2 IFT52 CRYBB1 INTS1 MYO7A ZNF148 LAMA1 TMEM98 ZNF408 FANCF ADNP EXOC6B NPAP1 C1QBP ADAMTS2 MIR184 HTT EPHA2 P4HTM WHRN SMC3 TRIM37 GTF2E2 GRK1 ALDH18A1 CTNNB1 TBCE FANCG GLRB LOX YY1 ASXL1 GPAA1 UBE3A PDZD7 MLXIPL POLR3B EED LAMB2 BFSP2 IGF1 HADHA FANCD2 LARGE1 MBTPS2 RP1 FGF3 PRMT7 YME1L1 SLC2A10 MAP2K1 BAZ1B LRPAP1 ATP6AP1 WAC HS6ST2 MARK3 EXOSC2 GNAT1 CDH23 HERC2 COL4A5 PCDH15 PLOD3 THOC6 NONO HARS1 EFL1 EPRS1 CASK RAD51 TYR LOXL3 NOTCH2 ARSG JAG1 CHST3 CACNA2D4 SF3B1 COL4A4 COL9A3 SLC25A4 KLLN PCNT TULP1 COL3A1 LIG4 CDK8 RS1 ADAMTS17 GTF2I LMX1B AGBL5 SOBP MAP2K2 KCNE5 PDE4D COL12A1 IRX5 POGZ TUBB4B COL9A1 CBS PIGO IFT43 RIN2 PIGL CRYBA4 RAD51C PQBP1 PACS2 GNPTAB RNU4ATAC MKRN3 OPN1LW GNB3 ARCN1 ERCC2 IFIH1 ADAMTSL1 TRPV4 EBF3 RAB28 CHM CAMK2G SIM1 FLII DPYD SNORD116-1 BBS1 FANCC COL1A1 TBL2 CIB2 SDHB ERMARD PIGW PHIP CANT1 RHO GABRD ESPN USF3 CCNQ ATP6V1E1 CSPP1 AP3D1 PDE6B AP1B1 LCA5 TGM5 POLR1C P3H2 P4HA2 GNAT2 NDUFB11 EIF2AK3 BLOC1S3 MAN1B1 ZMPSTE24 PGAP3 PIGG ADAMTSL4 ANTXR1 MT-TS2 PUF60 CRYBB2 PRIMPOL HP_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETROPIA PPM1D ARSG PIGY CCDC47 PDGFRB CHST3 SLC6A8 LIMK1 PDE6H RFC2 ATP6V1A PCNT TULP1 ERCC6 COL3A1 KCNAB2 WDR35 RS1 GTF2I WDR19 IFT52 DPF2 CNGA3 KIF11 PIGT MAG BEST1 ELN SOBP CLRN1 SRCAP CRB1 GATAD2B SIN3A PRSS56 PDE4D SNRPN LMNA PWAR1 CSTA MSX2 CLIP2 POGZ POMT2 TUBB4B MED13L FKTN MED25 SYNE1 PRDM16 CHMP1A NSD1 IFT122 SMAD4 MFRP CACNA1G PIGO NFIX IFT43 RAD50 DMPK KANSL1 CEP78 PIGL PQBP1 PACS2 ERCC8 ZNF148 SYT1 NMNAT1 TMEM98 LAMA1 ADNP SLC39A8 PDE6C WDR26 NPAP1 FOXL2 MKRN3 GJA1 USH1C FAM111A RAB11B DNAJC21 P4HTM PCYT1A GNB3 TRPV4 OGT SHANK3 EMC1 KERA CTNNB1 KDM5C CNGB3 B3GAT3 LTBP2 SNORD116-1 RERE YY1 CLDN16 SON CTCF TCTN2 FGD1 SLC25A24 NBAS MAN2B1 CHAMP1 TBL2 MYO7A CIB2 RMRP ERMARD PIGW KIDINS220 SETD5 POLR3A MBD5 PHIP RPGRIP1 KIAA1109 FLCN NEK1 GABRD PWRN1 FGF3 ESPN PIEZO2 NDN YME1L1 FBXO11 RPGR SKI COL4A1 LCA5 NOG TGM5 USP9X IQSEC2 BAZ1B CHD3 ATP6AP1 GNAT2 MARK3 EIF2AK3 BLOC1S3 MAN1B1 BCL11B ZMPSTE24 RAI1 CDH23 HERC2 PCDH15 PGAP3 MAGEL2 ATF6 NR2F1 PIGG USH1G GTF2IRD1 HARS1 MT-TS2 EPRS1 PGAP2 SNORD115-1 PIGV PUF60 TBC1D23 HP_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DETACHMENT PAX2 LOXL3 GNA11 BAP1 COL18A1 PRDM5 CHRDL1 SF3B1 COL9A3 MAF POMT1 CHST14 PTEN RS1 COL9A2 BEST1 FKRP CYSLTR2 LARGE1 KIF11 XRCC4 POMGNT1 CAPN5 DEAF1 GMPPB COL2A1 PAX6 FKTN POMK GNAQ RAI1 COL4A1 CRPPA COL9A1 PLOD1 B3GALNT2 CBS POMGNT2 TENM3 AKT1 FRG1 COL11A1 COL5A1 RXYLT1 ZNF408 NDP TEK ATOH7 ADAMTSL1 LRP5 ALG12 NHS FLII TSPAN12 TUBGCP6 POMT2 ZNF469 LRP2 COL1A1 IKBKG FBN1 ARL6IP6 ALDH1A3 DAG1 BCOR VCAN PRPH2 MIR140 CYP1B1 CACNA1F FZD4 IGFBP7 B4GAT1 XYLT2 GZF1 YAP1 IMPG2 DSE COL5A2 IQSEC2 NSMCE2 P3H2 VHL TUB PTPN22 IMPG1 FAS HLA-A ADAMTSL4 LTBP2 MYOC SIX6 HP_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_PALLOR MSTO1 SNRNP200 NDUFAF5 ZNF408 RTN4IP1 RTTN IFT172 TULP1 MVK PANK2 NGLY1 PDE6A MT-ND2 BEST1 KLC2 MAG OSTM1 PARS2 SPG7 GNAT1 MT-ND3 NDUFA6 PLK4 LYRM7 RBP3 ITM2B EYS NFIX COX7B TRNT1 IDH3B NDUFS2 NDUFV1 ACER3 AIPL1 NDUFS3 NDUFAF8 NDUFV2 MYOC ARL2BP NDUFS4 HARS1 NMNAT1 MFN2 UBE3B ELOVL1 ARL13B NDUFA1 BBS2 NR2F1 MMP19 MAN2B1 NDUFA11 NDUFB11 FAM161A NDUFS1 MFSD8 KCNJ13 POMGNT1 PRPF31 TUBGCP6 PRPS1 ABCA4 COL18A1 NDUFAF1 TIMMDC1 RP1L1 NDUFB10 NDUFAF2 PDE6G ARHGEF18 USP45 FLRT1 OPA3 CYP27A1 KCNC3 CACNA1F CASK TPI1 HK1 AIFM1 NDUFB3 CLCN7 PMPCB CNNM4 NDUFS6 NDUFB9 FOXRED1 COL4A1 MAK PRPF4 CYP1B1 CERKL ZNF513 ARHGEF2 IMPDH1 MT-ND1 TUB LRAT NDUFAF4 SCAPER GRID2 ATXN1 BLOC1S3 MT-ATP6 DNM1L CNGA1 C8orf37 HLA-A PRCD PEX1 MERTK NDUFS7 NDUFS8 NDUFAF3 FGF12 TMEM126B OPA1 TMEM126A NUBPL HP_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_OPHTHALMOPLEGIA RRM2B TWNK SDHAF1 POLG ATXN3 ACADS SDHA DNM2 MT-TN RNASEH1 MT-TF TOP3A TK2 LYRM7 TYMP TUBB3 MT-TL2 STIM1 DNA2 MTM1 MYF6 MT-ATP8 MT-ND1 MT-ND4 MGME1 RYR1 POLG2 FRG1 MT-TL1 MT-CO1 MT-TE MT-TW C1QBP MT-TQ MT-ND5 MT-TK SDHB SALL4 VARS2 SLC19A3 MT-ND6 MT-TT MTMR14 MFF MT-CO3 MYF5 PHOX2A SCN4A LRP12 SLC52A3 BIN1 FA2H APTX MT-CO2 DGUOK MT-TS2 KIF21A SLC25A4 STUB1 MT-TH SDHD OPA1 NDUFAF2 HP_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPIA SMS HACE1 GLE1 SMARCAL1 SLC12A6 LIMK1 MPLKIP AMMECR1 POMT1 WDR35 FBN2 FBN1 AFF4 ARID1B PTEN FGFR3 COL9A2 TCF4 SAG MYO5A ARL6 KIF11 ELN UBE3B OPTN PWAR1 GMPPB COL2A1 ZNF644 ATRX MED13L CRYGD CHMP1A SLC39A5 IFT122 GJA1 COX7B NRAS PRDM5 CACNA1F NFIX FKTN OPN1MW RHOA BPTF AEBP1 CRYBA2 ZSWIM6 AGK USH2A WDR26 PCYT1A NT5C2 B3GALT6 RNF113A RAI1 TFAP2A KDM5C CHST14 CYP4V2 LTBP2 UCHL1 KCNH1 LRP2 CLDN16 MAN2B1 GJC2 FKRP POMGNT1 TRPM1 BRAF SKI MIR140 RAD21 MBD5 COL11A1 KIAA0586 MYOC GZF1 KLHL7 CABP4 NDN DSE FANCI CRYGC SCO2 IQSEC2 COL4A1 TEAD1 VARS1 SDHC ARR3 TAF1 GPR179 TRAPPC11 KCNV2 CPSF1 ATAD3A MAGEL2 SMC1A ADGRV1 GTF2IRD1 LRIT3 SNORD115-1 RPL10 COL18A1 SH2B1 RBM10 RFC2 PSMD12 ADAMTS10 GTPBP2 NSD1 TWIST2 C12orf57 B3GALNT2 ACOX1 ANKRD11 DEAF1 SNRPN CLIP2 COL4A3 POMT2 POMK TBC1D7 SLITRK6 TCF20 TRNT1 ERCC3 OCA2 ENPP1 SOX5 ATP6V0A2 PPP2R5D BTD GRM6 AKT1 SETD5 GJA8 CRIPT NSUN2 TMEM94 PAX2 COL1A2 SEC23B DNAJC21 RPGR PIK3R1 EMC1 TIMM8A RERE ZNF469 NYX PTPN11 TBC1D24 GNPTG C8orf37 TARS1 ELP1 SLC24A1 NBAS FKBP14 COL5A1 VCAN VPS13B PACS1 RMRP POLR3A ELOVL4 CLDN19 PWRN1 XYLT2 CRYAA DAG1 USP7 KMT2A HUWE1 TKFC ABCC6 ALDH3A2 COL5A2 CYP1B1 TFAP2B AHDC1 USP9X CDC45 TUB EIF2S3 BMP4 TTC8 MAF BCL11B KDM5B ERBB3 NR2F1 PMM2 XYLT1 SON HDAC8 TRIT1 SDHD RP2 PIK3CA OAT ACSL4 RECQL4 MC1R CCDC28B HERC1 MSX2 KRAS NIPBL B3GLCT GTF2H5 PLOD1 HSPG2 CRYBB1 MYO7A LAMA1 ZNF408 EXOC6B NPAP1 ADAMTS2 HTT EPHA2 P4HTM WHRN SMC3 GTF2E2 GRK1 ALDH18A1 CTNNB1 GLRB LOX ASXL1 GPAA1 UBE3A PDZD7 POLR3B EED LAMB2 BFSP2 IGF1 HADHA LARGE1 MBTPS2 RP1 YME1L1 SLC2A10 MAP2K1 BAZ1B LRPAP1 WAC HS6ST2 EXOSC2 GNAT1 HERC2 COL4A5 PLOD3 THOC6 NONO GPR143 EFL1 CASK TYR LOXL3 NOTCH2 JAG1 ATP6V1A CACNA2D4 COL4A4 COL9A3 SLC25A4 KLLN TULP1 LIG4 CDK8 ADAMTS17 GTF2I WDR19 AGBL5 IFT52 PIGT MAP2K2 KCNE5 COL12A1 IRX5 POGZ COL9A1 CBS IFT43 RIN2 CRYBA4 PACS2 MKRN3 OPN1LW GNB3 ARCN1 ERCC2 IFIH1 ADAMTSL1 RAB28 CHM CAMK2G SIM1 FLII DPYD SNORD116-1 BBS1 COL1A1 TBL2 SDHB CANT1 RHO USF3 CCNQ ATP6V1E1 CSPP1 PDE6B AP1B1 POLR1C P3H2 P4HA2 NDUFB11 BLOC1S3 CNGB3 ADAMTSL4 ANTXR1 PUF60 CRYBB2 PRIMPOL HP_RETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DEGENERATION PAX2 SNRNP200 DNM1 PROM1 PDE6H CTSD MPLKIP MICOS13 TMEM67 BEST1 SCN3A CNGB3 POMT1 IFT172 SLC13A5 ACTL6B FKRP WRN ABCC6 PNPLA6 ARL6 PRPH2 CNGA3 CNKSR2 CCDC28B SLC1A2 ATP6V1A GTF2H5 APOE CRX PHYH FBN2 MFRP SCN8A SYNJ1 CP WWOX FKTN SPG11 TRAK1 RLBP1 ARL2BP LAMA1 ALDH3A2 CTNNB1 CDH3 RPGR NTRK2 HSD17B10 XYLT2 RGR GUCA1A GABRA2 GTF2E2 RNF113A SLC7A14 POMK ARSG NRL CYP4V2 GBA ABCA4 BBS2 MAN2B1 PPT1 CACNA1B POMGNT1 CST3 SLC19A2 ATF6 LARGE1 GUCY2D DRAM2 RAX2 PRPF8 CFI PRPF4 IMPDH1 MAPKAPK3 ANO10 CYFIP2 TPP1 RDH5 SCAPER MTTP TRAF3IP1 KCNV2 POMT2 LZTFL1 ELOVL4 CNGB1 CLN3 AP3B2 EEF1A2 KCNB1 HLA-A PRCD MERTK STXBP1 NUS1 CACNA1A CFH PANK2 COL18A1 REEP6 GABRG2 RHO CLN5 GRIN2D TULP1 DHX38 ZNF423 RS1 POU3F4 CLTC RPGRIP1 RBP4 TTC21B MIR204 NECAP1 TUBB4B XYLT1 SZT2 CEP78 CLN6 PLK4 FBLN1 ZFYVE26 TRNT1 ERCC3 AARS1 UBA5 ARV1 AIPL1 NR2E3 GNPTAB YWHAG TNFRSF11B IFT140 PDE6C BBS4 IDUA ERCC2 LMNA SDCCAG8 PARS2 SH3BP2 PRPF31 HMCN1 C8orf37 KCNA2 TARS1 BBS1 ATXN7 PPP3CA TOPORS GABRB2 WDR19 OPA1 VCAN USP45 CFAP410 C1QTNF5 CEP164 HK1 RDH11 RP9 PEX7 PITPNM3 STUB1 FGF12 CFHR1 DHDDS SUMF1 TUB FTL CWC27 GABRA5 GNAT2 HGSNAT TTC8 FBLN5 HCN1 APOB MAB21L1 MCOLN1 CFHR3 SYNGAP1 SEMA4A SIX6 GNB5 ASAH1 EFEMP1 HP_CONE_CONE_ROD_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_CONE_ROD_DYSTROPHY SEMA4A CRX POC1B ABCA4 C8orf37 ALMS1 CACNA2D4 ATXN7 PDE6C AIPL1 ADAM9 TTLL5 PDE6H NGLY1 RPGR CDHR1 KCNV2 LZTFL1 SLC19A2 CACNA1F RPGRIP1 PROM1 GUCY2D RIMS1 PITPNM3 PCYT1A GUCA1A RAX2 CNNM4 RAB28 HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT GNB1 TWIST1 KMT2D CTBP1 CAMTA1 SLC12A6 SLC6A8 FRMD4A KRAS NKX6-2 AMMECR1 KCNAB2 ARHGAP31 TCOF1 FGFR3 ARID1B PTEN SLC38A8 TCF4 SAG RRAS2 CLP1 NDUFV1 UBE3B MC1R FGFR2 BRIP1 NDUFS7 ADSL TMEM138 MED25 DYNC2LI1 SALL4 SCN8A CHMP1A NSD1 ATM ERMARD GRHL2 CACNA1G KMT2A GFPT1 LGI4 PTCH1 NDUFS3 ATP2B3 NCAPG2 ALDH7A1 B9D1 CCDC174 GJA1 COL11A2 DLG4 HRAS GBA RNF113A RAI1 HIBCH SLC35A2 TFAP2A L2HGDH PIGQ CAMK2B CHST14 INPP5E GATAD2B COL6A1 TCTN2 MRAS PEX12 SLX4 CLDN16 PTCH2 NFIX POMGNT1 CHRNG SARDH BRAF SUFU RAD21 NEDD4L CASK NALCN MBD5 PAX6 PURA ARL3 SLC39A8 COL11A1 SALL2 ATRX BCS1L FANCA H1-4 KDM6B SQSTM1 KDM1A KLHL7 CABP4 TRAPPC11 DSE NDUFS6 CYP1B1 FA2H BRF1 DDHD2 FBXO11 TCTN1 ARHGEF2 GJB6 CHD3 TAF1 EVC2 XRCC2 ASCL1 KRT71 GMPPB OPA1 GPR179 FBXL3 TGFBI FGF8 SSR4 BCAP31 KCNV2 OCRL ZSWIM6 SDHA ARL13B ERCC2 NEXMIF ALX4 ATAD3A HSD17B4 MAGEL2 ATF6 PMM2 CEP104 GTF2IRD1 LRIT3 COG8 LARP7 UFD1 COL8A2 LETM1 NDUFS8 NDUFAF3 FANCB TDGF1 KIAA0586 SNORD115-1 TMEM126B NPC1 MYH3 HACE1 TARDBP PIGY COL18A1 SH2B1 FANCM PLA2G6 FANCE AGRN ERCC6 MACF1 SLC9A6 PPP2R5D DPF2 EP300 POU3F4 ALX3 DGUOK ARMC9 B3GALNT2 KIF14 ANKRD11 DEAF1 SPG7 POMT1 SIN3A SNRPN CACNA2D2 CLIP2 COMT AP1S2 HESX1 FKTN PIGP SIL1 ERF ERCC3 MAFB GJC2 MCM3AP ATP13A2 NDUFS2 SOX5 TAF2 L1CAM NANS NOTCH1 HIRA DKC1 CEP41 MRPS34 SLC45A2 TGFBR2 AKT1 CRIPT CPLX1 PDE6C CREBBP TMEM94 MN1 GNAO1 DCC SLC25A1 SOS1 RERE EZH2 IRF2BPL RRM2B TMCO1 NSD2 CNGB3 CHRNA7 NAGA MAD2L2 DDB2 MED12 FGD1 NBAS ERLIN2 ACOX2 GATA4 CHAMP1 VPS13B PACS1 NDUFA10 NDUFS1 NODAL KCNC3 RAF1 KCNA1 KCNMA1 SMARCE1 KIDINS220 SLC18A3 KIAA1109 MTFMT HECW2 NDUFB3 PWRN1 PBX1 USP7 HUWE1 PIEZO2 ARX PIGN PIGT RPL10 PIBF1 LEMD3 RIT1 NOG ARID2 NDUFA4 CDC45 HMGB3 EIF2S3 IGF1R MAPT ABCC8 CYB5R3 KIF21A KDM5B ERCC4 DLL1 DNM1L NR2F1 RECQL4 SMAD3 DNMT3A HDAC8 PALB2 PEX16 FGF14 HSPD1 PDE6D TRIT1 DHCR7 NSDHL CHCHD10 ACSL4 GRM1 STXBP1 STRADA TCTN3 NGLY1 A2ML1 MAPK8IP3 SMARCD1 COL6A2 TGFB3 BEST1 ERCC5 RPS6KA3 CCDC28B NDUFA13 MT-ND3 HHAT GRIN1 PIGL CPLANE1 SPATA5 GGCX TUBB3 SALL1 SYNE1 FUS PRDM16 FZD2 MEF2C GNA14 NEUROD2 WASF1 TBCK GMNN COLEC11 GALC PEX13 RREB1 CHRNE LAMA1 TMEM237 SBF1 PEX11B TMEM98 AP4M1 HOXA13 LAGE3 LBR COL12A1 PAH TUBGCP4 PHOX2B SCN2A RSPRY1 BCORL1 VAMP1 TRIM37 RET PEX1 ADPRS ALG9 KCNJ13 FANCC CACNA1A NXN GLRB UBE3A MAP3K7 IKBKG SMARCB1 COQ8A DAB1 PSMD12 NHLRC2 BCOR HADHA SLC25A24 DNMBP FANCD2 DISP1 FCSK COX10 ADAT3 MAB21L2 PEX2 ATP6V0A2 TWIST2 BAZ1B NDUFS4 CHN1 UBA1 GK SOX2 SYNJ1 MKS1 EXOSC2 GNAT1 TLK2 TBX4 GP1BB REV3L NONO GPR143 TMEM126A RAD51 TYR JAG1 TACO1 TET3 SLC25A4 OCA2 LIG4 CDK8 ZIC1 ALG3 PAX3 SLC2A1 TBK1 MAP2K2 NDUFV2 BCL11A MPDZ KIF15 PEX5 WDR26 ACADSB SEC23A NDUFA6 SURF1 AP4S1 CDK13 HOXB1 SLC9A7 PIGO FMR1 APC RAD51C PACS2 PUF60 PUS3 TSEN15 CDC42 GNB3 TMEM67 NDUFA1 C9orf72 TBX1 PDHA1 TBL1XR1 TBC1D24 NDUFA11 CD96 FLII SETD5 LZTR1 PNKP SNORD116-1 PRPS1 FOXC1 POGZ DDOST BBS1 WNT5A COL6A3 TFAP2B EXT2 CNTNAP2 EOGT CHAT KDM5C ELOVL4 CTCF FBN1 DHCR24 DHX37 PIGW PHIP PRKAR1A GABRD NDUFB9 ATP6V1E1 CSPP1 AP3D1 RPGR AHDC1 PDE6B OFD1 TGFBR1 DPAGT1 C12orf65 NDUFB11 CLDN19 AHI1 BPTF RRAS IARS2 NUP133 KIF7 PLPBP CENPJ POMT2 ZC4H2 MAB21L1 HYLS1 MCOLN1 SETD2 RPS19 SCN1B GTF2E2 GNAS KDM6A SETX SLC16A2 OSGEP NUBPL TYRP1 PPM1D TMEM231 LIMK1 LIPT1 SOX3 PDE6H MPLKIP SUCLA2 FANCL AFF4 MT-ND2 MYO5A ARL6 CNGA3 ELN SLC6A19 FOXH1 DPM2 PRSS56 PWAR1 ECHS1 ATR PORCN GNAQ ZEB1 FGFRL1 ALDH18A1 ADD3 ALG11 CACNA1F GDF5 XPC RHOA SOX11 KANSL1 PET100 AEBP1 SLC17A5 ERCC8 NDUFAF2 TBX15 SLC5A7 EVC PHGDH SHOC2 AGK TELO2 ROR2 PRNP POLR1D TRIP12 FIBP SNIP1 SHANK3 PLK4 SLC25A22 LIPH MTOR SRCAP COL13A1 DOCK6 FLI1 MAN2B1 TIMMDC1 NDUFAF8 NDUFB10 SIX3 FKRP GAS1 TRPM1 MYF5 NTNG2 SKI UNC80 MCTP2 CEP152 RPGRIP1L ARVCF DLL4 PITX2 ROBO3 CDH3 TGIF1 NDN ATXN1 FOXRED1 LRPPRC PTPN11 IQSEC2 COL4A1 TRAPPC6B RBPJ ABHD5 MED13 UBR1 NDUFAF4 DHX30 KAT6A IL1RAPL1 TRAF3IP1 UBE2T TMEM216 FARS2 ASXL3 SMC1A SOS2 TWNK STAG1 PIGV SLC19A3 TBC1D23 VLDLR MYO9A PRSS12 PEX19 RFC2 DMXL2 INPP5K CDH11 SGPL1 SNAP25 MID2 CEP120 CCNQ CC2D2A FOXP1 NDUFA12 DVL1 FRMPD4 ACOX1 FGFR1 CRYAA POMK PEX6 LYRM7 OPHN1 JMJD1C TCF20 SLC25A46 TTI2 AP4B1 MED13L CRB1 AUTS2 BRCA2 NELFA DVL3 SYT1 NSUN2 FOXL2 POLR1C PAX2 RAB11B COL1A2 BRCA1 EMC1 OVOL2 KRT25 WDR81 DPM1 ZEB2 NYX SOX4 TARS1 B3GAT3 COX15 PNPLA6 SON ATP8A2 SLC24A1 AHCY TUBGCP6 FOXE3 RMRP ARID1A CDKL5 YAP1 CCDC88C DCN NDUFA2 TUBB2B SATB2 TKFC ALG6 VSX1 CLCN4 USP9X SPECC1L SEC24C PYCR2 SYT2 NDUFA9 PRMT7 PGAP2 ABCB7 ACO2 NDUFAF6 NDUFAF5 SMARCC2 DLG3 RFWD3 SHROOM4 POLR3A TREX1 CDON NIPBL GTF2H5 YY1 HSPG2 NPHP1 HPS5 WARS2 INTS1 PEX10 SEMA3E FANCF ADNP PIK3R5 NPAP1 CHD7 CA8 P4HTM ATOH7 FAM149B1 TCF12 SMC3 GGT1 GRK1 AGTPBP1 ZIC2 CTNNB1 MDH2 FANCG NPC2 ASXL1 NRXN1 KIAA0556 PTRH2 MLXIPL TRIP11 KRT74 RNASEH1 DHODH LAMB2 FANCI SLC13A5 PHOX2A CYB5A APC2 PAK1 POLG CAMK2A FGF3 NRAS UBE2A YME1L1 SLC2A10 MAP2K1 EXOSC3 LPAR6 PROKR2 WAC MT-ND1 PEX26 SMARCA4 CBL TRIM8 HERC2 SCO2 NDP HPS6 RIC1 SOST GRM6 ZNF423 TANGO2 DACT1 CHST3 ATP6V1A CACNA2D4 PEX14 PLXND1 YARS2 GTF2I XPA LMX1B CEP83 SOBP RASA2 KCNE5 THOC2 PDE4D SPTBN2 RORA ANTXR1 SHH COG5 ZBTB16 DPP6 ADGRG1 KIAA0753 KLF13 LARGE1 TENM3 CDCA7 PQBP1 GLI1 GRIA4 CEP290 MKRN3 GLI2 BRPF1 GLRX5 NOP56 EBF3 CLTCL1 MPDU1 NHS ORC1 SIM1 LONP1 PHF21A ARNT2 CTDP1 HNRNPU NDUFAF1 AP4E1 HLA-DQB1 TRIO SIK1 TBL2 NAXE OTX2 RNF135 CACNA1B DCTN1 RBM8A PEX3 RHO VCP EFNB1 GMPPA LYST GNAT2 GRID2 ZDHHC9 BLOC1S3 SMAD4 RAB39B FLNA PGAP3 MFRP WDR73 AP3B1 HP_UNDETECTABLE_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_ELECTRORETINOGRAM FLVCR1 USH1C EYS PROM1 LCA5 NRL CLN3 NR2E3 HSD17B4 RPGRIP1 PRCD LRAT TPP1 MYO7A PDE6D CRB1 CRX PPT1 KIZ POMGNT1 TULP1 HP_COLOR_VISION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOR_VISION_DEFECT POC1B PINK1 TTLL5 PDE6H DRAM2 CNGB3 TULP1 RAB28 FGFR1 DCC RPGR SOX10 CNGA3 RPGRIP1 PDE6C TACR3 PROM1 RIMS1 SYNJ1 UCHL1 HESX1 RLBP1 GUCA1A CA4 FGF8 CRX WDR11 ABCA4 OPA3 ELOVL4 SNCA ADAM9 OPN1SW PITPNM3 AIPL1 BEST1 PRPH2 OPN1MW RAX2 DNM1L ATF6 CABP4 NR2E3 HS6ST1 CDHR1 ANOS1 IL17RD OPN1LW PODXL DUSP6 PCYT1A HBB MFN2 GNAT2 PROK2 PRKN ACO2 SEMA4A POLG LRRK2 OPA1 PROKR2 NSMF UNC119 NBAS CACNA1F FGF17 CACNA2D4 NMNAT1 TK2 VPS13C C8orf37 CNNM4 FA2H MORC2 GUCY2D IMPG2 OFD1 SEMA3A PARK7 FLRT3 HTRA2 TIMM8A KISS1R CCDC141 CHD7 IMPG1 C12orf65 CFAP410 SPRY4 FGF14 FEZF1 DNAJC6 TMEM126A HP_TRITANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRITANOMALY OPA3 OPA1 OPN1SW DNM1L NR2E3 HP_ABNORMAL_UVEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UVEA_MORPHOLOGY TYRP1 BAP1 IL2RA CTBP1 TMEM231 LIMK1 BIRC3 TSC2 KCNAB2 FANCL FBN1 PTEN FGFR2 NF1 PNPLA6 CYSLTR2 LARGE1 KIF11 ELN UBE3B MC1R KIT CASP10 PITX2 CLRN1 FOXH1 OVOL2 PRSS56 PWAR1 BRIP1 CEP55 GMPPB PORCN GPR35 TMEM138 GNAQ CRYGD APOE ZEB1 SALL4 CRX FGFRL1 EYS MMP14 FBN2 GJA1 GRHL2 CHD7 DTNBP1 ADAMTS18 PAX6 HCCS PEX1 CC2D2A GPC3 PTCH1 RHOA IL6 PEX6 B9D1 ACVRL1 USH2A HRAS TCF4 USH1C POLR1D MT-TK XYLT2 NLRP3 PCYT1A COQ2 SLC45A2 LIPH TFAP2A SMCHD1 SEMA3E RPGRIP1 CLCNKB CYP4V2 HPS4 INPP5E BCOR LTBP2 TCTN2 LRP2 SLX4 PEX10 FLI1 PTCH2 SIX3 FSCN2 GAS1 GPR143 FASLG NRAS LDHD SUFU SDHA POU6F2 AP3D1 CEP290 RPGRIP1L NOD2 ARL3 MYOC FANCA GZF1 GUCY2D TGIF1 MST1 TRIM44 NDN TBR1 PEX12 CFI FGFR1 CRYGC LYST KRAS SKI COL4A1 TEAD1 TCTN1 EDNRB AAAS SLC25A11 CCM2 XRCC2 TMEM67 TRIM28 KRT71 B3GLCT WT1 TNFAIP3 TBX2 FGF8 OCRL UBE2T SLC24A5 AHI1 ARL13B TMEM216 DPP6 MAGEL2 USH1G ADGRV1 CEP104 GTF2IRD1 COL8A2 LETM1 PRPH2 FANCB TDGF1 KIAA0586 SNORD115-1 MYH11 TMEM237 PEX14 GNA11 FANCM RFC2 ERCC4 KITLG NOTCH3 ERCC6 DLST REST FOXC1 RBP4 SMAD3 C12orf57 EP300 POU3F4 ALX3 NSD2 ARMC9 POMGNT1 CAPN5 POMT1 SIN3A STIM1 SNRPN NLRP1 MMP2 CLIP2 POMT2 WDPCP XYLT1 CRYAA PMPCA POMK HLA-DRB1 GUCA1A CRPPA SLC25A15 FBLN1 MLPH FOXE3 ERF DIS3L2 OCA2 RAB27A LRP5 MITF MAFB CEP120 FOXP1 PEX5 ASPH FGF3 CRB1 CEP78 TRIP13 BTD CEP41 BRCA2 SHH AKT1 NELFA SOX10 RXYLT1 GJA8 CPLX1 NAA10 TGFBR1 CREBBP POLR1C PIK3R1 BRCA1 ABCA4 RERE CSPP1 KRT25 ZEB2 MDH2 ITPR1 SNAI2 HMCN1 CPAMD8 ELP1 MKS1 ALMS1 PEX2 MT-TL1 MAD2L2 ANKRD55 NDP VCAN VPS13B NODAL PEX13 BEST1 SOX2 TGFBR2 B4GAT1 CD247 CLDN19 PWRN1 YAP1 BDNF IMPG2 MYLK AGXT RET PIBF1 LAMB2 H19 CYP1B1 VSX1 PDE4D GMPPA IGF1R FBLN5 IMPG1 GDF3 FAS MAF ROR1 CPLANE1 SOS1 TMEM107 DLL1 RB1 PALB2 ALG2 SIX6 FKRP PAH RP2 PAX2 RSPO2 FANCE DHCR7 OAT CHRDL1 ATP6V1A CNGB3 AMACR SDHB SDHAF2 VHL SMO PEX16 RFWD3 IL2RB WNT10B ABCC6 HHAT COX7B CDON SALL1 PRDM16 KIFBP PDCD10 POMGNT2 NPHP1 HPS5 MALT1 SDHD CRYBB1 MBTPS2 MYO7A TMEM98 PTPN22 MT-TE SDHC FH ZNF408 FANCF ADNP PEX26 TGFB2 NPAP1 LOXL1 SAG MIR184 EPHA2 ATOH7 BTNL2 WHRN ACTB BCL10 ZIC2 PEX19 SEM1 NRL FANCG ACTA2 PRKAR1A KIAA0556 SMAD4 UBE3A PDZD7 IKBKG ANK1 PRKG1 MLXIPL RNF216 KRT74 FANCI TNFRSF1A HADHA FANCD2 DISP1 LMX1B PROM1 MAB21L2 CHN1 LPAR6 MAPKAPK3 BAZ1B EDN3 CENPF CHM MYO5A NDUFB11 CDH23 HERC2 PCDH15 HLA-A HPS6 ACTG1 HARS1 CASK ZNF423 RAD51 TYR NOTCH2 ARSG JAG1 WNT3 DACT1 SF3B1 PEX11B GATA1 SRD5A3 ADAMTS17 GTF2I ALG3 PAX3 MFAP5 EPG5 DNASE1L3 MPDZ IGBP1 B9D2 LOX RASGRP1 PTPN2 FAM111A POGZ MIF MPZ ELOVL4 TGFB3 TCOF1 TINF2 TBX22 TENM3 HLA-B ADAMTSL4 CRYBA4 RAD51C STAT4 MKRN3 GLI2 TMEM127 ADAMTSL1 HPS1 CLCN2 WASHC5 CCDC22 TUBGCP6 BMP4 TKT SNORD116-1 FLNA FANCC EPS15L1 BTRC TSC1 ARL6IP6 DAG1 TBL2 CIB2 ROM1 MAX GABRD KIF1B TP63 ESPN KCTD1 STUB1 FKTN CFHR1 ELP4 B3GALNT2 PEX3 NDE1 BLOC1S3 MAT2A TUBGCP4 PHOX2B UROC1 DLX6 KRIT1 LACC1 HYLS1 PRKCD CFHR3 MFRP MT-TS2 TRAPPC11 DLX5 WDR73 PUF60 AP3B1 CRYBB2 COL3A1 BLOC1S6 HP_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEITIS STUB1 IL2RA NOD2 TKT BIRC3 FOXP1 HLA-DRB1 MALT1 IKBKG ANKRD55 HLA-B IL6 TNFAIP3 FAS NLRP3 IL2RB FASLG STAT4 BTNL2 PTPN22 LACC1 TNFRSF1A CAPN5 CASP10 DNASE1L3 PRKCD TCF4 MBTPS2 NLRP1 RASGRP1 ATOH7 CD247 PTPN2 GPR35 MST1 MIF BCL10 HP_RETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSTROPHY SEMA4A SNRNP200 ACO2 HACE1 PROM1 RNU4ATAC TMEM231 KLHL7 SDCCAG8 CTSD LRAT TMEM237 GNAT1 BEST1 IFT172 CACNA1F PCDH15 NPHP1 MVK CDH3 NGLY1 PDE6A NPHP3 MKKS PGK1 IMPG2 MYO5A ARL6 IFT74 LARGE1 UBE3B ALMS1 MKS1 CCDC28B PDE6G IFT27 USH2A COX7B ARV1 BBS7 TMEM138 GGCX GRK1 RBP3 ARL3 CA4 CRX EYS PHYH TRNT1 MFRP POMGNT2 PANK2 HCCS PEX26 COQ2 CEP41 SAG ROM1 CABP4 WARS2 CDH23 RLBP1 IFT140 ARL2BP LAMA1 MT-TE MT-ND1 TELO2 PEX7 IMPG1 MT-TK CLRN1 PEX3 CEP290 PCYT1A RGR GUCA1A PDE6B ACOX1 FAM161A PNPLA6 SLC7A14 MDH2 BBS12 NRL INPP5E ABCA4 BBS2 LRP2 PEX1 RHO RDH5 PDE6C ANK1 ADAM9 TTLL5 RNF216 FSCN2 MT-ATP6 PPP2R3C PEX12 SLC19A2 HGSNAT OFD1 PEX13 POMGNT1 AIPL1 GUCY2D KIAA0586 RP1 DRAM2 INVS RPE65 RDH12 KIF5A RAX2 TRPM1 PRPF8 CNNM4 USH1C MAK PRPF4 CERKL ADGRV1 EXOSC3 IMPDH1 MAPKAPK3 CEP120 CACNA2D4 GPR179 ABHD12 TRAF3IP1 KCNV2 EXOSC2 PEX2 LZTFL1 SRD5A3 TMEM216 DHDDS ELOVL4 CNGB1 CLN3 POMT1 PRCD RDH11 PMM2 PRPS1 MERTK MT-ND5 PEX16 TRAPPC9 PRPH2 PEX11B ZNF423 RPGRIP1L PEX6 NPHP4 POC1B PEX5 ZNF408 IQCB1 REEP6 CFAP410 TULP1 DHX38 NYX RPGR C8orf37 CC2D2A NEK2 AHR EP300 FDXR WDR34 CHST6 HMX1 RPGRIP1 RNF113A WHRN RBP4 FKRP ATXN2 RIMS1 POGZ BBS5 COL4A1 CRPPA ITM2B TMEM67 SH2B1 PRPF3 IDH3B SYCE1 MYO7A AHI1 CRB1 CEP164 GRM6 NR2E3 RP1L1 AP3B2 PEX19 VPS13B CDHR1 RXYLT1 BBS4 CREBBP PRPF6 TIMP3 DNAJC21 USH1G BBIP1 RAB28 MFSD8 POMK PRPF31 TUBGCP6 HSPD1 BMP4 PEX10 TTC8 ASPA MT-TL1 KIF11 BBS1 SLC24A1 MYO6 ATXN7 NDUFA9 TOPORS MT-ND4 WDR19 CRYAB PDE6H LRIT3 DAG1 PDZD7 BCS1L PEX14 CIB2 GRN MT-ND3 C1QTNF5 NEK1 MT-TW RP9 POMT2 B4GAT1 PITPNM3 MT-ND6 MT-ND2 PCARE GATA3 CCNQ RPL10 CSPP1 FKTN BBS10 ZNF513 CNGA1 SLC35A2 BBS9 MT-TV B3GALNT2 TUB CWC27 CLDN19 PGAP1 KIZ GUCA1B FLVCR1 NDUFB11 FGFR2 APOB RCBTB1 IFT122 OTX2 ARMC9 SIX6 RP2 EFEMP1 HP_BUPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUPHTHALMOS FGFR2 POMT2 OCRL TWIST1 FUT8 GLIS3 PXDN MAB21L1 LARGE1 POMT1 FKTN ATOH7 ADAMTSL1 CYP1B1 GNAQ DAG1 PTEN POMGNT1 SH3PXD2B NCAPG2 FKRP AKT1 HP_RIEGER_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIEGER_ANOMALY FGFRL1 FOXC1 CTBP1 LETM1 PIK3R1 ADAMTSL1 IGF1R CPLX1 NSD2 PITX2 HP_CORNEAL_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_SCARRING TGFBI GJB2 PRDM5 NTRK1 COL7A1 ZNF469 DST MMP1 PRDM12 UROS POLA1 NGLY1 NCAPG2 HP_CHORIORETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_COLOBOMA ZEB2 PORCN CCDC22 DACT1 C12orf57 TMEM216 TMEM231 BMP4 BCOR TMEM237 TMEM67 INPP5E RBP4 PTEN CC2D2A SALL1 RPGRIP1L HHAT CLDN19 GZF1 YAP1 TMEM138 PAX6 CHN1 SALL4 NAA10 MAFB TBX22 GDF3 SHH AKT1 SEMA3E CEP290 CHD7 CASK ZNF423 ACTB SIX6 RERE WASHC5 HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS MRE11 DARS2 TMEM216 ATP2B3 PNKP GRM1 NKX6-2 TPP1 NDUFB8 ATXN3 ATXN8OS MAPT MYORG INPP5E VAMP1 PEX2 GJC2 PLD3 ATP13A2 ATXN2 SURF1 SPTBN2 PDYN VPS13D TUBB3 PLA2G6 PIK3R5 SCYL1 NOP56 SCP2 ANO10 NPHP1 KIF1A TGM6 XRCC1 C19orf12 MFN2 SCO2 NDUFS2 AGTPBP1 DNAJC6 CACNA1G ITPR1 ELOVL5 EEF2 PEX10 CHP1 SLC1A3 PRNP FBXO7 KIF1B UBAP1 FXN SNCA TCIRG1 MME AFG3L2 GBA FGF14 ATXN1 APTX ATXN7 NDUFAF3 TNFSF11 GBA2 TMEM240 SLC35A2 GDAP2 SNX10 CLCN7 ALS2 SLC6A3 SYNE1 HP_HYPOMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETRIC_SACCADES CACNA1G PLA2G6 MAPT NKX6-2 MME SPTBN2 GRM1 MRE11 SLC1A3 MYORG GBA APTX DNAJC6 NPHP1 HP_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_LOSS BAP1 PRDM5 SDCCAG8 CTSD TREX1 MT-ND1 TCOF1 MT-CYB NPHP3 COL4A1 CYSLTR2 PRPH2 PEX7 MT-TF ALMS1 LSS CLRN1 CTNNB1 COX7B MT-ATP6 TUBB3 APOE SH3BP2 EPM2A MT-CO1 C19orf12 HCCS MT-CO3 MT-ND4 COQ2 PIK3CA TNFRSF11A BRAF DNM1L GALC MYO7A IFT140 SRD5A3 KIF1A ZNF408 USH2A HSD17B10 TEK USH1C MT-TQ AKT1 ABCD1 NDUFS2 PCYT1A GUCA1A WHRN MFN2 CLN8 PNPLA6 CEP290 PGK1 SMCHD1 CA2 CYP4V2 INPP5E GNAQ RLBP1 UCHL1 ZNF469 LRP2 PHYH GJB2 PDZD7 COL7A1 PPT1 TAT SLC19A2 BCOR COL2A1 CYP1B1 HADHA NOD2 NEU1 KIAA0586 INVS GUCY2D RAX2 TRIM44 PMPCB CFI CDH23 PTPN22 PDGFB MT-TS2 VHL CEP120 TPP1 GJB6 RDH5 MFSD8 CHM MMP1 TRAF7 SUFU TFG CLN3 PCDH15 NHLRC1 HSD17B4 HLA-A NPHP1 MT-ND5 USH1G ADGRV1 PRPS1 MERTK HARS1 MT-ND4L SOST EPRS1 MYOC MT-TH NF2 GNA11 NPHP4 ARSG COL18A1 KCTD7 TBC1D24 SLC52A2 SF3B1 TERT RHO CLN5 SMO PAX6 RS1 ZNHIT3 CFH POLG MT-ND2 CLN6 NHS LTBP2 ABCA4 ST3GAL5 PEX13 SLC25A46 TGFBI CEP164 CEP78 CEP41 RP1L1 CDHR1 PLA2G6 LAMC3 CARS2 SMARCB1 OAT MT-TW ELMO2 FBN1 GATA2 MEN1 MT-ND6 HMCN1 ADAMTS10 KIF11 ATXN7 NBAS IQCB1 VCAN CIB2 OPA1 ARL3 C1QTNF5 ATP1A3 LMNB1 RDH11 SOX2 FA2H XYLT2 SPATA7 FGFR2 ESPN DCN NOTCH3 TRAF3IP1 MT-CO2 CSPP1 AIP CFHR1 LCA5 PSAP TIMM8A AHI1 SMARCE1 FOXC1 WDR19 NDUFB11 FLVCR1 BTD C8orf37 CFHR3 SON MT-TL1 MKS1 SEMA4A POLA1 USP8 CLCN7 HP_RETINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HEMORRHAGE ATP6V1E1 HMCN1 CFHR1 ATP6V0A2 ATP6V1A PRF1 MYD88 DNM2 ENPP1 SBDS COL4A1 IKBKG ABCC6 TREX1 TERT TERC CFHR3 XYLT2 IFNG XYLT1 APOE TET2 HP_THICK_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_EYEBROW CCDC8 NOTCH2 SHANK3 RBM10 CHST3 PSMD12 ARID1A SMARCC2 CDH11 FRMD4A ABCA5 CHD1 KIFBP SLC9A6 AFF4 ARID1B LAS1L PAX3 DPF2 SMC3 EP300 SMARCD1 SUMF1 KCNN3 CUL7 PHF6 NIPBL ATP6V1B2 SMC1A FUCA1 IARS2 KCNH1 MEF2C KMT2A TBCK TAF6 RPS23 GNS DNMT3A ACER3 SOX11 AUTS2 BPTF PUF60 VPS13B KCNK9 RNF125 HMGA2 KCNK4 CREBBP ANKRD11 KCNJ8 MN1 COL1A2 TMCO1 SETD5 MAP3K7 SOX4 TRIO B3GAT3 HDAC8 DOCK7 TAF1 TFAP2B FBXL4 NBAS MGAT2 MAN2B1 SMARCE1 SMARCB1 RUSC2 CTCF SLC6A17 RAD21 BCOR NFIX SLC25A24 MBD5 PHIP TUBGCP2 HECW2 RET AIFM1 ABCC9 EXT1 TRPS1 SMARCA4 KNL1 SPECC1L OBSL1 ARID2 SLC35A2 KMT2C WAC NSUN2 MAGEL2 CDON ATRX SMAD4 IDUA LEMD3 ZSWIM6 FBXO31 WNT4 GPRASP2 ERLIN2 RPS6KA3 TP63 GUSB HP_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCOTOMA MFSD8 PROM1 POC1B MT-ND6 ACO2 ARSG CNGB3 CYP4V2 PDE6H RLBP1 RTN4IP1 CFAP410 MT-ND4L RHO MT-ND1 PDZD7 MT-CYB MYO7A CIB2 MT-ND4 OPA3 PRPH2 CNGA3 ATF6 C1QTNF5 CACNA1F CLRN1 MT-ND5 MT-ATP6 ESPN MT-ND2 RBP3 ITM2B CRX RPGR PRPF3 ABCA4 CYP1B1 ELOVL4 TRNT1 MT-CO1 MT-CO3 TIMM8A RDH5 GNAT2 C12orf65 OPA1 DNM1L CEP78 MYOC FLVCR1 KCNV2 USH2A CDH23 PDE6C IMPG2 PCDH15 USH1C HLA-A USH1G ADGRV1 HARS1 MT-TS2 NDUFS2 WHRN MFN2 RAB28 TMEM126A HP_CENTROCECAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTROCECAL_SCOTOMA MT-ND6 MT-ATP6 MT-CO1 MT-CO3 MT-ND5 MT-ND4L MT-ND4 MT-CYB MT-ND1 NDUFS2 OPA1 MT-ND2 HP_NASOLACRIMAL_DUCT_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOLACRIMAL_DUCT_OBSTRUCTION KAT6A TFAP2A FGFR3 TET3 YY1 TAF1 IGSF3 PAX1 NHP2 TCOF1 SIX1 TP63 SMC3 CD151 EP300 FGFR2 PTDSS1 FREM1 CREBBP FGF10 EYA1 NOP10 HP_PIGMENTARY_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIGMENTARY_RETINOPATHY SNRNP200 NDUFS1 SCO1 NDUFAF6 LIPT1 SURF1 NGLY1 PDE6A IMPG2 TACO1 PNPLA6 ERCC3 PRPH2 NDUFS8 MT-TF ALMS1 CTNS GSS NDUFA13 HADHA ECHS1 NDUFS7 PET100 ISCA1 CA4 CRX COX7B EYS CAV1 BBS5 MFRP MSTO1 HADH MT-ND1 MT-ND4 NCAPG2 ERCC8 NDUFAF2 TRIM32 COX10 SAG MT-TQ SDHB TRIM37 ACOX1 FAM161A MKS1 RLBP1 ABCA4 RHO COA8 FKRP FSCN2 NDUFAF5 RNASEH1 MT-CO3 MT-ATP6 COX8A BBS4 MMACHC BCS1L RP1 SDHAF1 WFS1 PRRT2 NDUFV1 IMPDH1 FOXRED1 MT-TS2 RDH5 GMPPB MFSD8 POMT2 WDPCP NDUFB11 SDHA MT-TN CNGB1 PRCD PEX1 MT-ND5 BBS12 MT-TH CEP290 SDHD ZFYVE26 SLC19A3 PANK2 JAG1 RPE65 TULP1 ERCC6 COX6B1 IFT27 BBS10 SDCCAG8 COX14 NDUFA12 HADHB SCN1A NDUFV2 NR2E3 BBS9 CACNA1A BBS2 AIRE BBS7 COA3 LZTFL1 PEX5 AHI1 COX15 CRB1 VPS13B MT-CO1 MT-TW ARL13B PDHA1 BBS1 MT-ND6 PRPF31 RRM2B CLRN1 PEX2 NDUFS3 NDUFS2 NDUFS4 RP1L1 MKKS GUCY2D NDUFA10 MT-TL1 C8orf37 HCCS USH2A NPHP1 PRDX1 MT-ND3 POLR3A MT-TK ROM1 BEST1 RP9 MTFMT MT-ND2 PCARE NDUFA2 ARL6 ATXN7 MT-CO2 COX20 ZNF513 BBIP1 NDUFA4 MT-TV TTC8 KIZ IFT172 FLVCR1 POMT1 NDUFA9 CNGA1 AMACR ATP1A2 RP2 LARGE1 HP_BLEPHAROPHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHAROPHIMOSIS SEPTIN9 DACT1 GPC6 LIMK1 PHF6 RFC2 MASP1 SMOC1 TUBB KRAS KAT6B GJA1 LIG4 ZMPSTE24 GTF2I FOXG1 DNMT3A FOXP1 PAX3 ELN UBE3B MED12 MUSK BRCA1 GATAD2B HHAT MOGS CLIP2 PYCR1 CRKL ATR SALL4 MYCN COLEC10 SMAD4 SMO STAC3 KMT2A HSPG2 MAFB SLC6A17 DCHS1 COLEC11 ERCC6 RHOA TXNL4A KANSL1 ABCC9 SMARCA2 BCR SCARF2 TBX15 DGCR8 PIEZO2 TBX1 NSUN2 FOXL2 BRPF1 FAT4 ERF ORC1 RERE WDR35 CEP57 ESS2 RAB18 SLC2A10 ANK1 MLXIPL MAPRE2 ATP6V1A TBL2 SALL1 RECQL4 RBPJ MCTP2 KCNJ2 BCOR MYH3 CEP152 SETD5 DGCR2 UGDH STRA6 DGCR6 HUWE1 MECP2 MAPK1 KCTD1 CHN1 BAZ1B LMNA RBMX SOX9 TP63 CUL4B SLX4 NFIB TLK2 THOC6 GTF2IRD1 TBL1XR1 ERCC1 GPKOW HP_UPSLANTED_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPSLANTED_PALPEBRAL_FISSURE SMS FANCE PIGY DHCR7 NSDHL RTTN TUBB DLG3 FANCL EIF2AK3 PEX16 RFWD3 TCF4 MAPK8IP3 COG7 MCPH1 LIG4 POLA1 KIF11 UBE3B STIL ARID1B CDK5RAP2 PARS2 BRCA1 TFAP2A PGAP3 HERC1 PWAR1 BRIP1 PIGL CLTC QRICH1 MED13L B3GLCT RAI1 CHD4 FZD2 MEF2C ADAMTS3 CACNA1G WASF1 TBCK PEX1 NFIX PEX5 CEP135 KANSL1 KNL1 RREB1 ZNF148 PEX6 UBE2A TELO2 FANCF PEX26 ROR2 NPAP1 GJA1 TRIP12 TMCO1 PHF8 SPECC1L FIG4 DYNC1I2 CDK6 PEX19 KDM5C NXN FANCG GATAD2B TBCD DLX4 DONSON ZC4H2 ASXL1 COG1 SLX4 PEX10 TAF13 MAP3K7 ANK1 IFT57 DVL1 C2CD3 MFSD2A MEGF8 FANCI MCTP2 FANCD2 ARVCF FGFR2 PIGA ATRX FANCA RERE UQCC2 KLHL7 NDN PEX12 CTU2 PEX7 ADAT3 IQSEC2 DVL3 ASXL3 ASPM CEP63 BCL11B XRCC2 TOE1 PHC1 IL1RAPL1 PIGO OCRL UBE2T PTCH1 EXOSC2 EBP HERC2 WNT5A TLK2 ATAD3A ADAMTSL2 MAF HSD17B4 MAGEL2 GP1BB THOC6 RDH11 NONO UFD1 FANCB SNORD115-1 PIGV MAP11 RAD51 PEX14 CERT1 SEPTIN9 JAG1 EFTUD2 SLC16A2 FANCM ERCC4 TRIO PEX11B PCNT GATA1 ZIC2 XRCC4 PQBP1 WDR62 PIGT ANKRD11 DEAF1 SIN3A SNRPN PYCR2 METTL5 COMT MYCN CDK13 JMJD1C EHMT1 NCAPD3 CDC42 TBX6 AUTS2 HIRA RAD51C PUF60 BRCA2 SETD5 CENPJ MKRN3 TRRAP RAB11B TBX1 HBB CXorf56 CD96 WDR35 FLII KIF14 CEP152 DPYD SASS6 SNORD116-1 HNRNPU MAD2L2 FANCC ALX4 GATA4 MAPRE2 CHAMP1 PIGW PEX13 AP1S1 POLR3A PHIP KIAA1109 TUBGCP2 VAC14 PWRN1 HUWE1 COPB2 PIGN AHDC1 USP9X HDAC4 NBN SEC24C PEX3 CCDC22 ANKLE2 IGF1R BPTF BUB1B PEX2 NR2F1 PMM2 PALB2 CIT PGAP2 MEIS2 AP3B1 HP_BAND_KERATOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BAND_KERATOPATHY COL18A1 JAG1 GNAS NOD2 SLC4A4 OVOL2 HP_SHALLOW_ORBITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ORBITS TWIST1 MITF FLNB ADAMTS10 FGFR2 KCNJ6 HYMAI SERPINH1 SKI PLAGL1 SETBP1 FBN1 NFIX SHPK FGFR1 PLOD3 GNPTAB ESCO2 HERC1 P4HB MAF HP_ABNORMALITY_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OPTIC_NERVE TWIST1 VPS11 GLB1 TCIRG1 MICOS13 IFT172 KCNJ13 KCNAB2 POMT1 MVK SLC13A5 B4GAT1 TSFM REEP6 SLC38A8 RAB3GAP1 KIAA1549 SAG ERCC3 MEFV MAG OSTM1 UBE3B MC1R SOST DDX11 MOGS NDUFS7 ATRX NDUFV2 BOLA3 MTFMT PCYT1A SALL4 SCN8A EYS OPA3 COX7B SH3BP2 GNA11 PAX6 RDH12 PEX1 TUBA8 GLA CC2D2A CCR1 WWOX MT-ND4 NDUFS3 NUP62 ELOVL1 WDR45 GJA1 FAM111A DNMT1 AKT1 HESX1 MT-TL1 NT5C2 RPIA L2HGDH RPGRIP1 SLC7A14 GATAD2B BCOR UCHL1 ABCA4 CKAP2L MT-TW PEX12 PEX10 CACNA1B AGBL5 FSCN2 KCNC3 POMGNT1 TRAPPC12 SARDH TIMM50 COX8A BRAF SLC19A2 ABCG8 NEDD4L C4A SERAC1 CEP290 CASK NALCN BEST1 MT-CYB BCS1L ARSA CLCN7 PLP1 CABP4 LAMB1 WFS1 FANCI NDUFS6 FA2H MTPAP NDUFV1 DDHD2 RFC1 RAB23 RAB18 GEMIN4 NDUFA11 ARHGEF2 IQCB1 CRB1 TBC1D20 TMEM67 LRAT MPLKIP OPA1 TOE1 MFSD8 ABHD12 BCAP31 FGFR2 SDHA SRD5A3 SUFU ERCC4 OFD1 ATAD3A MICU1 EEF1A2 KCNB1 ARL6 MT-ND5 LRIT3 UFD1 TP53 NDUFS8 NDUFAF3 CDHR1 NF2 FAS TMEM126B CTC1 TWNK NDUFS2 SH2B1 KCTD7 CNGA1 DHDDS NTRK2 SNX10 LDLR TUBB4A ERCC6 SMO POU1F1 COX6B1 LHX4 DNMT3A COX14 GPR161 POU3F4 CLTC SUMF1 ALG13 BAP1 B3GALNT2 NEK2 KIF14 ANKRD11 SPG7 MAK GALC MMP2 ERCC2 BBS2 COMT WDPCP XYLT1 FKTN HLA-DRB1 KLC2 PLK4 TBC1D7 CRPPA ITM2B NFIX IL23R PLEKHM1 TULP1 MT-ATP6 ERF PLAA ERAP1 MAFB UBA5 SOX5 C8orf37 PEX5 PDHX AIPL1 HIRA DKC1 BTD MRPS34 PCK1 SLC45A2 PEX19 MYOC PLA2G6 HARS1 CERKL DIAPH1 MT-TF PARS2 FGFR3 GP1BA RERE MT-ND6 TBC1D24 NSD2 HLA-B SDHD POLG PEX2 MT-ND4L NAGA COL18A1 SIX6 DDB2 MED12 NBAS RP1L1 PPP2R1A GDF6 ALDH1A3 VPS13B PRPF4 NDUFA10 GUCY2D NDUFS1 TANGO2 TUB MT-ND3 EIF2B1 PEX13 TGFB1 TTC8 CHSY1 CNNM4 NDUFB3 HUWE1 NOTCH3 FGF12 AGXT GPR179 CYP1B1 MKS1 NDUFA4 TIMM8A FTL TNFRSF11A HGSNAT MT-ND2 LRP4 MMUT KCNA2 DNM1L ARHGEF18 NR2F1 RP1 MTO1 PEX16 OTX2 TRIT1 DNM1 DHCR7 SNAP29 EIF2B3 RTTN SCN3A NDUFB8 AIFM1 RECQL4 NGLY1 PPP1CB FKRP ABCC6 TACO1 ERCC5 RPS6KA3 GUCA1B PDE6G GNAT1 NDUFA13 GGCX TUBB3 PRDM16 ERCC1 MEF2C IDH3B MFRP POMGNT2 MT-CO3 PROP1 PIK3CA IBA57 MFN2 MT-ND1 PSAP MBTPS2 RREB1 PDE6B TMEM237 PEX11B LRP5 STT3B TUBGCP4 COX10 LHX3 PEX3 TMEM216 SPATA7 RPE65 GDF3 ADAR TMEM98 COA8 IKBKG PPT1 PEX6 FXN PSMD12 RPGR TPI1 LARGE1 FCSK SDHAF1 PTPN22 IL11RA WDR11 DGUOK NAA10 MT-TS2 PCSK9 CYFIP2 EIF2B5 NDUFS4 CENPF ATIC CYP7B1 SOX2 TRAF7 POMT2 PCYT2 SMOC1 GMPPB GP1BB MERTK ACTG1 EPRS1 PNPLA6 TMEM126A ZNF408 OCA2 ZIC1 RGR INPP5E ALG3 POLR3B FDXR MAP2K2 MECR APC MPDZ RNF113A IGBP1 BRAT1 ZNHIT3 NDUFA6 SEC23A SURF1 STAT4 TYR UQCRFS1 KLHL7 TBCE PRPS1 CBS SLC52A2 AAAS FH PUF60 SMARCB1 DNAJC19 GLI2 ARL13B CDC42 GNB3 NDUFA1 TBX1 PDHA1 USH2A CASR RP2 HIKESHI PRPF31 CCDC22 KIF11 POGZ NMNAT1 FAM161A USP45 FLRT1 ARL3 MT-TK PRKAR1A GABRD TBCD FOXRED1 NDUFB9 ATXN7 WDR73 CSPP1 ZNF513 MT-TV GABRA5 C12orf65 SLC25A19 ATXN1 SMARCE1 KIF7 TXN2 CRX MCOLN1 ANTXR1 TRAPPC11 NUBPL RD3 SLC39A14 LIPT1 SOX3 RTN4IP1 EIF2B4 NARS2 PRPF6 PDE6A MYO5A SLC6A9 IFT140 IL12A-AS1 CNKSR2 DPM2 SLC1A2 CEP55 ECHS1 ADAM22 PORCN GNAQ ADA2 MMP14 DPYD C19orf12 SYNJ1 CACNA1F ZNF592 TRAK1 XPC RHOA PET100 NDUFAF8 KLRC4 ERCC8 NDUFAF2 KIF1A TNFSF11 HSD17B10 MT-TQ XYLT2 NLRP3 DENND5A GABRA2 SCO2 NDUFB11 TMTC3 MGP VPS33A CA2 MAN2B1 TIMMDC1 GJC2 NDUFB10 FANCB TRPM1 RPGRIP1L NOD2 ARVCF KIAA0586 PRUNE1 B9D1 SKI RBP3 COL4A1 CNGB1 NDUFAF4 CISD2 SCAPER B3GLCT C2CD3 TNFRSF11B STAMBP GLRX5 CDON TFG CLN3 ROBO1 MT-TH SLC19A3 CACNA1A RBM10 DARS2 PEX14 MT-RNR1 RNF216 IL12A INPP5K SIL1 GABRG2 GTPBP2 LCA5 KIZ TSC1 PRPF8 RAB3GAP2 NDUFAF5 NDUFA12 SPINT2 FRMPD4 ACOX1 FGFR1 NECAP1 SZT2 ISCA2 POMK LYRM7 JMJD1C ST3GAL5 COA3 TRNT1 AARS1 SLC25A46 GNAS NELFA RXYLT1 YWHAG NRL MT-CO1 CLP1 IDS PAX2 WT1 RAB11B PTF1A PROM1 EMC1 DPM1 EPG5 NYX IMPDH1 TCTN2 PROKR2 CPAMD8 ELP1 PRCD COX15 SON ASPA SLC24A1 TUBGCP6 MFF NDP VCAN CFAP410 CA4 GRN POLR3A ATP1A3 TK2 NR2E3 YAP1 NDUFA2 AP1S2 PCARE MT-CO2 COX20 GMPPA SEC24C PDSS1 TMEM107 ARX HCN1 DOCK6 NDUFA9 SYNGAP1 CLRN1 AHR SNRNP200 RSPO2 ACO2 SCO1 NDUFAF6 ASB10 ATP6V1A ACTL6B CSF1R MT-TP CTNNB1 TOPORS PEX26 PIEZO2 APOB ARL2BP WARS2 AUH SEMA3E CPLX1 CHD7 P4HTM MMP19 PRPF3 GRK1 KAT6A NIPBL SELENOI ASXL1 GPAA1 KRAS LETM1 CYP27A1 PCLO UBAC2 PMPCB ATN1 YME1L1 MAP2K1 CHN1 FOXE3 AMPD2 PDGFB NOTCH2NLC AHI1 EIF2B2 MT-TN IER3IP1 TSC2 AP3B2 TLR4 HLA-A PANK2 STXBP1 GRM6 NUS1 MSTO1 WNT3 CCDC88A CACNA2D4 TERT GRIN2D XPA DHX38 PTEN IDH3A B9D2 IL10 RHO LDLRAP1 RP9 SLC29A3 SCYL1 RLBP1 ARV1 ACER3 GRIA4 EBP ABCG5 AFF4 FOXA2 GATA2 SCYL2 MPDU1 WDR4 CLCN2 WASHC5 ARNT2 HNRNPU NDUFAF1 PPP3CA GABRB2 PRPH2 ROM1 DAG1 RNF135 SEMA4A HK1 TUBGCP2 IFT88 TMEM231 NDE1 GRID2 IMPG2 BLOC1S3 FLVCR1 ACTB FDX2 HP_OPTIC_NERVE_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_COLOBOMA PAX2 PAX6 SH2B1 TMEM216 BCOR NIPBL FOXE3 SALL4 NAA10 TMEM67 INPP5E SMO C2CD3 SPINT2 RPGRIP1L CC2D2A IGBP1 DDX11 ACTG1 ACTB HP_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOBOMA PAX2 RSPO2 CTBP1 DHCR7 RAB3GAP1 TMEM231 TMEM237 MAF ATP6V1A FGFR1 POMT1 SMO PTEN FKRP FGFR2 TBX22 LARGE1 FOXH1 KIAA0586 CC2D2A KRAS TFAP2A HHAT DDX11 GMPPB PIGL RAB3GAP2 CDON PORCN TMEM138 GNAQ CRYGD B3GLCT SALL1 SALL4 YAP1 COX7B FGFRL1 MMP14 PAX6 DPYD CHD7 KIFBP PUF60 POMGNT2 ALG2 NPHP1 CSPP1 FKTN PTCH1 CRYBB1 INTS1 MBTPS2 SRD5A3 B9D1 SEMA3E ADNP HRAS WASHC5 POLR1D FIBP ATOH7 ACTB ZIC2 POMK SMCHD1 GDF3 INPP5E BCOR NIPBL TCTN2 LRP2 TMEM67 KIAA0556 FLI1 PTCH2 ANK1 SIX3 POMGNT1 GAS1 KMT2D NRAS C2CD3 LETM1 SUFU SOX2 SHH RPGRIP1L ARL3 SALL2 DISP1 RERE GZF1 TGIF1 TBR1 CRYGC MAB21L2 RAB18 TCTN1 CHN1 AAAS FOXE3 NAA10 CEP120 TBC1D20 CENPF CEP290 POLR1C FGF8 MKS1 NDUFB11 POMT2 AHI1 ARL13B TMEM216 CEP104 ACTG1 CASK TDGF1 ZNF423 TBC1D23 GDF6 NOTCH2 SPECC1L SH2B1 WNT3 DACT1 NOTCH3 DHX38 CEP41 RBP4 ALG3 C12orf57 EP300 ALX3 SPINT2 NSD2 ARMC9 HMX1 MPDZ SIN3A ESCO2 IGBP1 MMP2 PDE6D POGZ CRYAA COL4A1 ABCB6 CRPPA ERF TCOF1 MAFB FGF3 TENM3 MED13L CRYBA4 PQBP1 AKT1 NELFA RXYLT1 NMNAT1 GJA8 CPLX1 CREBBP GLI2 ZEB2 CCDC22 PACS1 BMP4 PRPS1 PNPLA6 SIX6 FLNA ALDH1A3 DAG1 VPS13B NODAL HCCS VSX2 B4GAT1 CLDN19 KCTD1 PIBF1 MITF GMPPA B3GALNT2 HMGB3 KIF7 ROR1 CPLANE1 DLL1 KDM6A PRMT7 HYLS1 RB1 TRAPPC11 OTX2 CRYBB2 HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA RRM2B MT-ND6 MT-TT POLG ACADS RNASEH1 MT-CO3 MT-TN MT-TF TWNK TOP3A TK2 APTX MT-CO2 DNA2 DGUOK MT-TL2 MT-TS2 MT-ATP8 MT-ND1 MT-ND4 MGME1 POLG2 ATXN3 MT-TL1 MT-TK MT-CO1 SLC25A4 MT-TW C1QBP TYMP MT-TQ MT-ND5 VARS2 MT-TH OPA1 HP_ABNORMAL_SCLERA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCLERA_MORPHOLOGY KMT2D DACT1 CHST3 PRDM5 B4GALT7 KRAS FBN1 CHST14 KIFBP COL1A1 SLC39A13 TGFB3 PPP1R15B PIGT CTSK DVL1 BCL11A DNASE1L3 ESCO2 COL12A1 PYCR1 B3GALT6 DSE COG4 FZD2 HSPG2 MFRP PLOD1 WASF1 TRMT5 PPIB ENPP1 COL1A2 CANT1 GHR NFIX TGFBR2 DVL3 COL5A1 AKT1 TELO2 EXOC6B ROR2 SEC24D ADAMTS2 KDM1A SLC26A2 NLRP3 CHSY1 FKBP10 XYLT1 HGD ZNF469 TRMT10A NXN MAP3K7 PRSS56 CLCNKB MBTPS2 B3GAT3 PAX1 WNT5A KDM6A MVK SERPINH1 SALL1 RMRP PRKAR1A CYB5A HADHA POLR3A WNT1 ALPL IGF2 BEST1 PSMB8 C1R IKBKG FGFR1 ABCC6 COL5A2 INPPL1 PTEN CREB3L1 TGFBR1 IFITM5 TENT5A PUS3 CYB5R3 SLC29A3 CRTAP LRP5 BMP1 PRMT7 SON TMEM38B COL3A1 P4HB HP_BLUE_SCLERAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_SCLERAE KMT2D CHST3 PRDM5 B4GALT7 FBN1 CHST14 KIFBP COL1A1 SLC39A13 TGFB3 PPP1R15B CTSK DVL1 BCL11A ESCO2 COL12A1 PYCR1 B3GALT6 DSE COG4 FZD2 HSPG2 PLOD1 WASF1 TRMT5 PPIB ENPP1 COL1A2 CANT1 GHR NFIX TGFBR2 DVL3 COL5A1 TELO2 EXOC6B ROR2 SEC24D ADAMTS2 KDM1A SLC26A2 CHSY1 FKBP10 XYLT1 ZNF469 TRMT10A NXN MAP3K7 MBTPS2 B3GAT3 PAX1 WNT5A KDM6A MVK SERPINH1 RMRP CYB5A POLR3A WNT1 ALPL IGF2 C1R IKBKG ABCC6 COL5A2 INPPL1 CREB3L1 TGFBR1 IFITM5 TENT5A PUS3 CYB5R3 CRTAP LRP5 BMP1 PRMT7 SON TMEM38B COL3A1 HGD P4HB HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY TSPAN12 PIGY JAG1 CHRDL1 RAB18 ELMO2 MASP1 LTBP2 FOXC1 ADAMTS10 CHST14 NDP FOXE3 FBN1 PIGW PITX2 OVOL2 PAX6 PIK3R1 MIR204 MITF KLHL7 FGFR1 CYP1B1 ZEB1 COLEC10 GRHL2 VSX1 LRP5 PIGO B3GLCT PIGL ASXL1 MYOC PGAP3 LOXL1 COLEC11 ATOH7 COL8A2 PGAP2 PIGV HP_SHALLOW_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ANTERIOR_CHAMBER TSPAN12 PIGY FBN1 LTBP2 PIGW RAB18 PIGO PGAP3 ADAMTS10 ATOH7 PGAP2 PIGV PIGL NDP HP_OPHTHALMOPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPHTHALMOPARESIS NDUFS1 LIPT1 TCIRG1 SUCLA2 MT-CO1 SURF1 REEP6 PRPF6 KIAA1549 POLG DNM2 PABPN1 NDUFV1 NDUFS8 ECHS1 NDUFS7 RRM2B UGT1A1 TK2 ADA2 TYMP MT-TC CHRND RDH12 ZNF408 DNA2 MT-ATP8 MT-TK MT-TL1 MT-ND4 CHRNA1 GFPT1 RYR1 PET100 POLG2 NDUFAF2 AK9 SLC5A7 TWNK COL3A1 COLQ MT-TQ AKT1 SDHB ATXN3 SCO2 NDUFS2 GBA SCN4A MT-TT SLC7A14 COL13A1 MYMK AGBL5 MT-CO3 MYF5 CHRNE NRAS BEST1 KRT5 CRX LRP12 BCS1L ATXN1 FA2H APTX RBP3 CNGB1 ZNF513 SELENON FOXRED1 SLC18A3 MAPT CISD2 MICU1 OPA1 IFT140 MYO9A TSPYL1 SALL4 SDHA DGUOK SUFU OFD1 STUB1 ARL6 MT-ND5 MT-TH SDHD CDHR1 NF2 SLC19A3 CNGA1 DHDDS SDHAF1 GPC1 C12orf65 AGRN SMO ACTA1 KIZ SNAP25 SLC9A6 MT-TW PRPF8 NDUFA12 RNASEH1 BAP1 NEK2 ATXN2 MAK CHRNB1 BBS2 LYRM7 ROBO3 MT-TL2 MAFB MCM3AP STIM1 MTM1 ABCA4 C8orf37 MT-TS2 MGME1 DMPK CERKL NRL WFS1 SLC25A1 PROM1 LRP4 MEN1 TPM3 MYH2 MT-ND6 IMPDH1 PRCD COX15 MTMR14 ATXN7 MFF PRPF4 NDUFA10 CA4 TUB MT-ND3 TTC8 TTN NR2E3 MTFMT SLC52A3 PIEZO2 NDUFA2 PCARE MT-CO2 NDUFAF3 KCNJ18 KCND3 NDUFA4 HGSNAT TPM2 KIF21A SYT2 NDUFA9 LAMB2 DNM1L ARHGEF18 RP1 SLC25A4 CLRN1 AHR AFG3L2 MT-ND1 PLEC NDUFAF6 VAMP1 TRPV4 NDUFB8 TGFBR3 MT-TF GUCA1B PDE6G TOP3A KRAS NDUFA13 TUBB3 KRT14 TOPORS IDH3B PIK3CA NEB SCAPER MYF6 ARL2BP LMOD3 PDE6B SBF1 SPEG MT-TE NAXD C1QBP LAMA2 VARS2 PRPF3 ADPRS SPATA7 RAPSN MT-CYB MT-TV MUSK NDUFAF5 MT-ATP6 PHOX2A RPGR ATN1 BIN1 COX10 CDH23 PTPN22 DOK7 CHN1 PDGFB NOTCH2NLC AHI1 CHAT HACD1 SAG TRAF7 ITGA7 EARS2 REV3L MYH7 THSD1 TACO1 TERT EYS PLXND1 ACADS RGR KLHL41 CACNA1S DHX38 IDH3A MT-TN FDXR NDUFV2 RHO RP9 KLHL7 HRAS KLHL40 RLBP1 FRG1 SMARCB1 PDHA1 USH2A RP2 MYL2 IFT172 ENG NDUFS3 FAM161A NDUFS4 RPE65 PRPH2 ROM1 DHX37 SEMA4A ARL3 LRAT TULP1 SNRNP200 IFT88 MT-ND2 FSCN2 AIP MERTK ANGPTL6 IMPG2 POMGNT1 SMARCE1 PRPF31 MAP3K20 PDE6A CRB1 GABRA3 HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE TWIST1 NOTCH2 ARID1A FRMD4A STAG2 LIG4 ZIC1 MID1 XRCC4 CCNK COG7 SMC3 EP300 RAB3GAP2 PPP1R15B ALX3 BRCA1 SIN3A DPM2 FGFR3 SETD2 MED13L COG5 EMC1 NIPBL SMC1A KREMEN1 FGFR2 NSD1 SH2B1 SLC9A7 TCOF1 HSPG2 TAF6 TBC1D20 NANS NELFA SYT1 FRAS1 SLC25A24 ADNP NSUN2 PEX6 CREBBP KCNJ8 POLR1C KDM1A UGP2 POLR1D IFIH1 ATP6V1B2 TBL1XR1 TMCO1 TBC1D24 SPECC1L TCF12 CDH1 SMARCA2 SETD5 TRMT10A KCNH1 MAP3K7 PACS1 FGD1 NSD2 RAB18 DLX4 SLC12A6 HDAC8 DOCK7 ZC4H2 ASXL1 NRXN1 MAN2B1 INSR SMARCE1 CNTNAP2 VPS13B LETM1 ERMARD PEPD RAD21 IGF1 PIK3C2A EFNB1 AIFM1 RERE ABCC9 KLHL7 KMT2A LRP2 LRPPRC SLC35C1 CWC27 TBX2 ALX1 SOS1 ANKRD11 ARX TWIST2 NBN DOCK6 MAB21L1 THOC6 WNT4 TECPR2 MEIS2 PEX1 HP_ABNORMALITY_OF_THE_PHARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHARYNX RFXANK DNAAF2 DOCK8 CD79A ICOS MATR3 TAP1 MGP ELANE RSPH4A SGSH TCOF1 SRP54 RPGR NOP10 NFKB1 STK11 MID1 STAT1 TNFRSF13C GAS8 CD19 AICDA FOXP1 WAS SETBP1 EP300 SCNN1A PABPN1 ANKH UNC119 MS4A1 FOXN1 LEPR COMT CD79B SCNN1G CIITA NPM1 ZMYND10 CD81 WRAP53 GLI3 SLC29A3 SERPING1 RNF168 SALL4 GAS2L2 ATM JMJD1C CFI PRPS1 TBX1 HSPG2 DNAAF5 GNS LRBA RFX5 HYDIN FCGR3A HIRA LEP RREB1 ADNP SH2D1A NCF4 NEK10 CREBBP FGFR1 IL17RA DNAI2 TNFRSF13B PLG NME8 DCLRE1C RSPRY1 CTLA4 JAK3 LRRC6 TERC TAP2 OFD1 SH3KBP1 TCIRG1 IL7R TERT CR2 TP53 GALNS MYSM1 DNAAF4 NAGLU PARN GJA1 GLB1 IL21R RSPH1 CCDC65 SHH F12 TNFRSF1A HGSNAT CXCR4 ARVCF ACP5 TBC1D24 ZAP70 RAG2 NFKB2 MED12 ARMC4 EGFR ARSB COG4 CFAP298 TNFSF12 RAG1 PTPN22 XIAP UNG USP9X NHP2 TAPBP NOTCH2NLC RTEL1 NBN SEC24C CCDC114 ADA IGHM GNPTAB KIAA0556 PNP TP63 RFXAP USB1 FGFR2 SPAG1 MST1R PRKCD TINF2 CTC1 GP1BB DNAAF1 HPS6 UFD1 DKC1 SCNN1B IL2RG GUSB GFI1 ASAH1 SOX9 DNAAF6 HP_HYPOTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTELORISM MSTO1 TWIST1 PROKR2 SEPTIN9 GPT2 MPLKIP RTTN RAB3GAP1 WDR35 ARID1B ZIC2 WDR19 IFT52 PPP1R15B NIN FOXH1 SIX3 DPM2 PDE4D OPHN1 MSX2 FGFR3 CDON SHH GTF2H5 FGFR2 IFT122 GSC ERCC3 TGIF1 GLI2 WDR4 DYRK1A IFT43 OSGEP RLIM KANSL1 NUP133 PAH GJA1 TRRAP TRAPPC9 CNOT1 ARCN1 ERCC2 WDR73 GTF2E2 PYCR1 RNF113A ALDH18A1 TRMT10A EPG5 PTCH1 XRCC4 SLC35A1 TP53RK FARSB TARS1 FGFR1 MKS1 GATA2 FREM1 ELN NUP107 MLXIPL GAS1 RECQL4 NODAL NTNG2 AP3D1 RAB3GAP2 KIAA1109 TPRKB DISP1 RERE HUWE1 EVC LIG4 KCTD1 USP9X HNRNPH2 NDE1 NDP NSUN2 SUFU FGF8 DLL1 QARS1 SHPK STIM1 EVC2 LAGE3 SRC TDGF1 HP_CENTRAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SCOTOMA MFSD8 PROM1 POC1B CNGB3 PDE6H RLBP1 RTN4IP1 CFAP410 MT-ND4L RHO MT-CYB MT-ND4 PRPH2 CNGA3 ATF6 CACNA1F MT-ND1 MT-ND2 RBP3 ITM2B CRX RPGR ABCA4 OPA3 MT-ATP6 CYP1B1 ELOVL4 MT-CO1 MT-CO3 TIMM8A RDH5 GNAT2 C12orf65 OPA1 DNM1L MYOC PDE6C IMPG2 MT-ND5 NDUFS2 MT-ND6 MFN2 RAB28 TMEM126A HP_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_GAZE_PALSY TARDBP TANGO2 PLA2G6 ATP13A2 ROBO3 MAPT NPC2 CHCHD10 ADD3 SQSTM1 GBA ACOX2 PRNP HLA-DQB1 VAMP1 SYNJ1 ELOVL4 KCNC3 POLR3A DCTN1 TBK1 PIGT SPG7 DCC POLG C9orf72 NOP56 TWNK FA2H VCP CCDC88C NPC1 ATXN1 FUS HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION SNX14 SHANK3 KMT2E CAMTA1 GDF1 LIMK1 PHF6 CLCN4 TUBB FRMD4A FRG1 ARX PEX19 PEX16 FOXG1 FTSJ1 MAP3K7 ELN CTLA4 UPF3B FGFR2 GNE HRAS TCF12 RAB39B HCFC1 SLC29A3 EDA ARHGEF6 YY1 PEX1 IGSF3 PEX5 FLNA CXorf56 ABCC9 SMCHD1 LAS1L SEC23A PEX6 UBE2A KIF1A PEX26 ADAMTS2 GPR101 PHF8 GATA4 IL1RAPL1 FGFR3 PDGFRB EDARADD TTC37 BSCL2 GATAD2B WDR4 MYD88 HDAC8 NRXN1 LRP2 PEX10 TAF1 ESCO2 KRAS MLXIPL AIP CHD8 FLT4 BRAF SOX18 POMP TNFRSF1A SOX11 CNKSR2 EDAR RPS6KA3 MID2 KLHL7 JAG1 PEX12 MASP1 PRMT7 HBA1 MAB21L2 RAB23 MAP2K1 BAZ1B MED13 CCBE1 FOS DOCK7 NKX2-5 TSPAN7 RBMX GNPTAB ASXL1 ZFPM2 MECP2 HLA-DPB1 ZSWIM6 SUZ12 TWIST2 HLA-DPA1 GATA6 FBXO31 AGPAT2 KCTD1 FGF10 LTBP4 GTF2IRD1 ACTG1 TRAPPC9 PPARG CAVIN1 NKX2-6 RBM10 PTCHD1 ACSL4 VPS33A PEX14 NRAS RFC2 TBX1 PEX11B PSMB9 LIG4 GTF2I ZNHIT3 USP27X DNMT3B MAP2K2 ERCC4 KIF15 OPHN1 CLIP2 GRIA3 PSPH CHD1 PCGF2 ALG13 GHR RIN2 AGTR2 IQSEC2 DUX4 PAK3 SLC25A24 PTPN22 NSUN2 KCNJ8 CITED2 ZNF41 ZIC1 PRTN3 GSN CDH11 FRMPD4 GATA5 FGFR1 ZNF711 FREM1 PEX2 KIF11 DLG3 PPP2CA CNTNAP2 SYP TBL2 SP7 GDI1 DMD CAV1 PEX13 SLC9A7 PIEZO1 PIK3R1 GJA5 FHL1 PSMB4 PTH1R SUMF1 PEX3 TWIST1 USP9X KPTN MED12 ANTXR1 ACTB PITX2 ZNF81 HBA2 HP_MACULAR_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DEGENERATION PAX2 CFH PROM1 PRPF31 COL18A1 HMCN1 NRL TARS1 MPLKIP RLBP1 GBA BEST1 RHO CNGB3 ATXN7 DHX38 PPT1 WDR19 RS1 ABCC6 CST3 PRPH2 ATF6 RPGRIP1 HK1 RP9 ABCA4 GUCY2D PITPNM3 DRAM2 XYLT1 RAX2 CEP78 PLK4 GTF2H5 CFI APOE ALDH3A2 GUCA1A FBLN1 ZFYVE26 FBN2 CFHR1 ELOVL4 ERCC3 MAPKAPK3 ANO10 RDH5 SCAPER SPG11 AIPL1 TTC8 FBLN5 NR2E3 TRAF3IP1 ARL2BP KCNV2 CDH3 TNFRSF11B RPGR IFT140 CNGB1 CLN3 C8orf37 HLA-A PRCD CFHR3 ERCC2 MERTK XYLT2 SEMA4A GTF2E2 SIX6 SH3BP2 RNF113A ASAH1 HP_OPTIC_NERVE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_HYPOPLASIA RSPO2 WNT3 PROKR2 ARNT2 GATAD2B SOX3 POMT2 PROP1 RTTN PAX6 SIX6 POU1F1 POMT1 MED12 LHX4 PPP2R1A ZIC1 PPP1CB ALDH1A3 DNMT3A FKRP OTX2 RNF135 MAP2K2 GPR161 SOX2 HESX1 POMGNT1 KIF14 CASK ANKRD11 RNF113A LARGE1 FGFR1 GMPPB POMK FANCI TUBB3 PTF1A DDHD2 SCN8A MEF2C WDR11 B3GALNT2 FOXE3 TUBA8 CENPF FKTN NDE1 MBTPS2 PUF60 GLI2 GRIA4 CDON ATAD3A WT1 NR2F1 ERF LHX3 SON FOXA2 ROBO1 CRPPA HP_ABNORMAL_CHOROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHOROID_MORPHOLOGY PAX2 OAT TMEM231 TMEM237 TSC2 CNGB3 PTEN PEX16 ABCC6 LARGE1 KIF11 BEST1 UBE3B CRB1 PRSS56 HHAT CEP55 COX7B PORCN TMEM138 GNAQ APOE SALL1 ZEB1 CRX EYS PAX6 FBN2 GRHL2 PDCD10 ADAMTS18 POMGNT2 SALL4 HCCS PEX1 CC2D2A PEX5 PRPH2 TMEM98 PEX6 MT-TE SEMA3E ZNF408 ACVRL1 PEX26 CHD7 SAG MT-TK XYLT2 EPHA2 TMEM216 ACTB PNPLA6 PEX19 RPGRIP1 CLCNKB NRL CYP4V2 BCOR TMEM67 PEX10 RNF216 FSCN2 HADHA CEP290 POMGNT1 RPGRIP1L NOD2 GZF1 GUCY2D PEX12 IKBKG B9D1 CFI PROM1 TEAD1 CHN1 NAA10 MAPKAPK3 CCM2 NDP CHM OCRL DPP6 POMT1 HLA-A COL8A2 CASK ZNF423 PEX14 JAG1 DACT1 PEX11B INPP5E RBP4 C12orf57 EP300 POU3F4 FKRP B9D2 WDPCP XYLT1 HLA-DRB1 COL4A1 GUCA1A CRPPA SLC25A15 FBLN1 ELOVL4 MAFB TBX22 SHH VPS13B AKT1 RXYLT1 CREBBP ABCA4 OVOL2 RERE CSPP1 CLCN2 WASHC5 ZEB2 POMK TCTN2 CCDC22 HMCN1 TUBGCP6 BMP4 ALMS1 MT-TL1 TSC1 DAG1 VCAN PEX13 ROM1 POMT2 B4GAT1 CLDN19 YAP1 IMPG2 AGXT FKTN CFHR1 VSX1 MKS1 B3GALNT2 PEX3 NDE1 FBLN5 IMPG1 GDF3 TUBGCP4 TMEM107 NDUFB11 KRIT1 PEX2 CFHR3 MFRP SIX6 RP2 HP_IRIS_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_COLOBOMA RSPO2 CTBP1 DHCR7 TMEM231 TMEM237 MAF ATP6V1A FGFR1 SMO FGFR2 LARGE1 FOXH1 TFAP2A CDON PORCN TMEM138 GNAQ CRYGD B3GLCT SALL4 COX7B FGFRL1 MMP14 CHD7 KIFBP POMGNT2 NPHP1 CSPP1 PTCH1 CRYBB1 MBTPS2 B9D1 SEMA3E ADNP HRAS CC2D2A POLR1D ATOH7 ACTB ZIC2 SMCHD1 INPP5E BCOR TCTN2 LRP2 TMEM67 KIAA0556 FLI1 PTCH2 ANK1 SIX3 GAS1 NRAS SALL1 LETM1 SUFU POMGNT1 RPGRIP1L ARL3 DISP1 GZF1 TGIF1 CRYGC KRAS TCTN1 CHN1 AAAS NAA10 CEP120 CENPF FGF8 MKS1 NDUFB11 AHI1 ARL13B TMEM216 POMT1 CEP104 ACTG1 TDGF1 KIAA0586 ZNF423 NOTCH2 WNT3 DACT1 NOTCH3 SRD5A3 CEP41 RBP4 ALG3 C12orf57 ALX3 NSD2 ARMC9 MPDZ SIN3A FKRP IGBP1 MMP2 POGZ SHH CRYAA COL4A1 CRPPA ERF TCOF1 MAFB TBX22 FGF3 TENM3 CRYBA4 NELFA RXYLT1 GJA8 CPLX1 CEP290 POLR1C GLI2 RERE WASHC5 ZEB2 POMK CCDC22 BMP4 PNPLA6 FLNA DAG1 VPS13B NODAL HCCS SOX2 POMT2 B4GAT1 YAP1 KCTD1 PIBF1 FKTN GMPPA B3GALNT2 GDF3 ROR1 CPLANE1 DLL1 HYLS1 RB1 ALG2 TRAPPC11 PUF60 SIX6 CRYBB2 HP_PHOTOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPHOBIA XPC TTLL5 PIKFYVE PDE6H MPLKIP RTN4IP1 CNGB3 NLRP3 SLC1A3 RAB28 REEP6 PRPF6 LSS XPA KIAA1549 TACSTD2 PRPH2 CNGA3 MEFV ERCC5 IL12A-AS1 ALMS1 MC1R GUCA1B CTNS SLC6A19 PDE6G OVOL2 PDE6C GTF2H5 ZEB1 CA4 DDB2 TOPORS EYS IDH3B GRHL2 MFRP RDH12 ADAM9 ZNF408 OPN1SW SCAPER PCNA CCR1 PITPNM3 ARL2BP OPN1MW RAX2 ATF6 CABP4 KLRC4 ALDH3A2 KRT12 PDE6B GJB6 ELOVL1 OPN1LW HLA-B POC1B MCOLN1 PCYT1A PRPF3 GUCA1A GTF2E2 PNPLA6 RNF113A SPATA7 KCNJ13 SCN1A SEMA4A SLC7A14 RGS9BP RLBP1 UNC119 GJB2 CST6 AGBL5 TAT GPR143 CACNA2D4 C4A RPGR IKZF1 HADHA UBAC2 ERCC2 TYR NOD2 RPGRIP1 COL17A1 BEST1 MBTPS2 CRX GUCY2D LTBP2 DRAM2 FOXC2 KRT3 CNNM4 SLC39A4 LYST RBP3 CNGB1 ZNF513 FOXE3 LRAT GALC RDH5 AHI1 IFT140 TGFBI CFAP410 SAG KCNV2 SLC24A5 OFD1 TLR4 HLA-A POLH HPS6 ARL6 ESR1 COL8A2 CDHR1 FAS IL12A CNGA1 DHDDS RPE65 OCA2 RHO KIZ MAPT RGR ERCC3 PRPF8 DHX38 IDH3A CHST6 NEK2 MAK NLRP1 PROM1 IL10 BBS2 ANTXR1 ST14 CEP78 HLA-DRB1 AIRE STAT4 ITM2B RP9 KLHL7 IL23R ERAP1 ABCA4 C8orf37 AIPL1 WNT10A CRYGC LRMDA NR2E3 PLCD1 SLC45A2 DKK1 HARS1 NMNAT1 CERKL NRL TNF GNB3 USH2A TIMM8A GNAT2 RIMS1 RP2 IMPDH1 IFT172 TARS1 PRCD ATXN7 FAM161A CACNA1F ROM1 PRPF4 AHSG TUB ERCC6 TTC8 ARL3 HK1 TULP1 SNRNP200 IFT88 PCARE FSCN2 AP3D1 MERTK AP1B1 VSX1 PSAP EDNRA HGSNAT IMPG2 POMGNT1 TP63 PRPF31 CEP250 ERCC4 RGS9 ARHGEF18 ITGB6 RP1 CLRN1 AHR POLA1 PDE6A CRB1 AP3B1 HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY KAT6A TFAP2A EYA1 FGFR3 TP63 TET3 KRAS YY1 BIRC3 KIF11 PAX1 FGFR1 KAT6B TCOF1 SLC25A24 FGF10 FRAS1 FREM2 SMC3 EP300 SIX5 PAX3 FREM1 SIX1 MBTPS2 COX7B SOX10 HLA-DRB1 NOP10 TWIST1 PTDSS1 PHGDH HCCS FOXP1 TAF1 IGSF3 UBR1 NHP2 NDUFB11 MALT1 PSAT1 FGFR2 BTNL2 CD151 GJB6 PEX6 CREBBP GRIP1 PRMT7 COL11A2 BCL10 COL3A1 PEX1 HP_ABNORMAL_PUPIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPIL_MORPHOLOGY ZEB2 LIPH CTBP1 CPAMD8 ELP1 TMEM67 FOXC1 RBP4 RB1 ARL6IP6 KRT74 NSD2 OVOL2 SIN3A PIK3R1 FBN1 POMT2 ZEB1 MPZ FGFRL1 MAB21L2 LAMB2 COL4A1 GMPPA GJA1 GRHL2 CHN1 VSX1 LPAR6 MAFB STIM1 PTEN TINF2 KRT71 NDP AAAS RHOA ADAMTSL4 TBX2 SALL4 PHOX2B OCRL CPLX1 LOXL1 GPR143 ATOH7 COL8A2 LETM1 PITX2 COL3A1 KRT25 HP_MIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIOSIS STIM1 AP3D1 PHYH PEX7 CHRDL1 DNMBP HHAT ORAI1 DDC KIF1B SIX6 HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT GNB1 MRE11 CACNA1G DARS2 ITPR1 SPG11 RARS1 TMEM216 EEF2 SPTBN2 PEX10 CACNA1A TULP1 TPP1 SACS ATXN3 MAN2B1 ATXN8OS PRNP GBA2 POLR3B KCNC3 INPP5E ELOVL4 POLR3A FMR1 DPM2 ATXN2 PMPCA SYT14 TBCD SETX TTBK2 FGF14 PRKCG ATN1 TMEM240 STUB1 RFC1 STXBP1 ANO10 KCND3 TSEN54 SCYL1 ALS2 ATXN1 ATP2B3 GJB1 TBP ATXN10 STT3A PIK3R5 PLA2G6 NOP56 RUBCN ZFYVE26 SYNE1 HP_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLINDNESS SEMA4A OAT TMEM231 NDUFAF5 EIF2B3 TCIRG1 RD3 TMEM237 GNAT1 IFT172 EIF2B4 POMT1 CDH3 B4GAT1 REEP6 PRPF6 POLG MT-ND2 PGK1 FKRP KIAA1549 MEFV ASPA IL12A-AS1 ALMS1 GUCA1B PDE6G MT-ND3 GMPPB COX7B ATRX TMEM138 GNAQ CRX TOPORS OPA3 IDH3B PLOD1 RDH12 HCCS ZNF408 PIK3CA SCAPER UFM1 CCR1 FKTN ARL2BP NDUFS3 GALC NDUFV2 KLRC4 PDE6B FRAS1 TNFSF11 PROS1 COL2A1 AKT1 SDHB ABCD1 PRPF3 NDUFB11 PITX3 NDUFS1 ITGA2 SPATA7 SMCHD1 SCN1A NRL SLC7A14 LRP5 BCOR ITGA2B TIMMDC1 PPT1 NDUFAF8 NDUFB10 AGBL5 FREM2 SARDH PEX6 GP1BB C4A RPGR UBAC2 BEST1 LARGE1 NDUFS6 FOXRED1 CDH23 RBP3 CNGB1 HEXA NDP ZNF513 PDGFB MT-ND1 EIF2B5 LRAT NDUFS4 NDUFAF4 ATIC CEP290 AHI1 IFT140 MFSD8 EIF2B2 SAG TRAF7 POMT2 TMEM216 SUFU OFD1 CLN3 TLR4 PANK2 ARL6 NDUFS8 SDHD NDUFAF3 CDHR1 NF2 FAS ZNF423 TMEM126B CTC1 BAP1 IL12A CNGA1 DHDDS RPE65 SDHAF1 TERT EYS SMO ADAMTS10 MTR KIZ SDHA RGR CC2D2A PRPF8 DHX38 ARNT2 IDH3A GM2A XRCC4 PIK3R2 POMGNT1 CAPN5 NEK2 KIF14 WHRN MAK IL10 RHO BBS2 POGZ NDUFA6 POMK STAT4 GP1BA RP9 CLCN7 KLHL7 IL23R GJB2 B3GALNT2 ERAP1 MT-ATP6 SLC52A2 NDUFS2 NDUFV1 ABCA4 RLBP1 C8orf37 AIPL1 ACTB PQBP1 BTNL2 CERKL SMARCB1 HEXB NAA10 GRIP1 PLG TIMP3 NDUFA1 PROM1 NDUFA11 MEN1 USH2A HPS1 RP2 IMPDH1 PRPF31 TBC1D24 HLA-B PRCD KIF11 SLC24A1 NDUFAF1 ATXN7 FAM161A ITGB3 NDUFAF2 PRPH2 ROM1 NLRP3 GUCY2D PRPF4 CA4 FBN1 TUB DHX37 EIF2B1 C1QTNF5 TTC8 TMEM67 ARL3 ATP1A3 FZD4 CEP164 NR2E3 TULP1 SNRNP200 IFT88 NDUFB3 PCARE FSCN2 NDUFB9 AIP MERTK LAMB2 CNGA3 GNAS HLA-DRB1 PSAP NDE1 HGSNAT CTNS IMPG2 SMARCE1 CD109 BMP4 FLVCR1 MTRR ARHGEF18 RP1 NSMCE2 CLRN1 AHR NDUFS7 PDE6A CRB1 NUBPL HP_DACRYOCYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DACRYOCYSTITIS TP63 BTNL2 FGFR3 FGFR2 FGF10 PRMT7 IGSF3 HLA-DRB1 HP_ENTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTROPION DDB2 XPC GMNN LMNA ZMPSTE24 PPP2R1A XPA ALDH1A3 ATP6V1A ERCC3 ATP6V1E1 ERCC4 ERCC6 ERCC5 IKZF1 POLR3A ERCC2 HLA-B POLH TP63 HP_BLURRED_VISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLURRED_VISION COL4A1 MT-ATP6 SLC12A3 GRHL2 VSX1 MT-CO1 APOA1 MT-CO3 KCNA1 MT-ND4L NLRP3 DBH NOP56 MAPT MT-CYB MT-ND4 TACSTD2 CACNA1A ATP1A2 HLA-A MT-ND5 CLCNKB ABCA1 SCN9A COL8A2 NDUFS2 MT-ND6 MT-ND1 MT-ND2 HLA-DRB1 OVOL2 ZEB1 HP_SUPRANUCLEAR_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA ATXN3 ATXN1 ATXN2 GBA ATXN7 HP_POSTERIOR_EMBRYOTOXON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_EMBRYOTOXON PEX14 JAG1 ESS2 LIMK1 RFC2 PEX11B NOTCH2 PEX10 FOXC1 PEX16 GTF2I SLC38A8 TBL2 ELN PITX2 PEX13 DGCR2 ARVCF PIK3R1 TBX1 COX7B CLIP2 COMT DGCR6 YAP1 PEX12 JMJD1C HCCS BAZ1B PEX1 SEC24C PEX3 PEX5 HIRA RREB1 DGCR8 PEX6 NDUFB11 PEX26 GP1BB PEX2 GTF2IRD1 UFD1 PEX19 HP_PERIORBITAL_FULLNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIORBITAL_FULLNESS PTCHD1 ACSL4 VPS33A FGFR3 FRMPD4 NRAS KMT2E GATAD2B WDR4 ZNF711 CLCN4 GNE YY1 TUBB DOCK7 ELN DLG3 ARX PEX19 PPP2CA MLXIPL SYP FTSJ1 USP27X GDI1 DMD UPF3B SLC9A7 CNKSR2 RPS6KA3 MID2 HRAS RAB39B HCFC1 MAB21L2 CHD1 ARHGEF6 MED13 PCGF2 ALG13 CXorf56 AGTR2 TSPAN7 RBMX IQSEC2 MECP2 PAK3 TWIST2 USP9X FGFR2 FGF10 MED12 ZNF41 IL1RAPL1 ZNF81 HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY MT-ND6 TMEM231 LIMK1 RFC2 ELN NEK1 SELENOI MT-ND1 SMPD1 MLXIPL GTF2I COL4A1 TBL2 NOTCH3 MT-ND5 ARVCF MT-CYB IGFBP7 BEST1 NEU1 TBX1 CLIP2 ASAH1 COMT MT-ATP6 CTSA TULP1 GLB1 JMJD1C PRPF3 CYP1B1 HEXA NDP BAZ1B FZD4 MT-ND4 PSAP GALC SEC24C HIRA MT-ND2 RREB1 MYOC HEXB GM2A GP1BB GTF2IRD1 MT-CO3 UFD1 MT-ND4L LRP5 HP_RETINAL_ARTERIAL_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIAL_TORTUOSITY MT-CO3 MT-ND6 NEK1 SELENOI MT-ND1 MT-ND4L MT-ATP6 MT-ND2 MT-ND5 MT-ND4 MT-CYB HP_LACRIMATION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMATION_ABNORMALITY FGFR3 SLC39A14 SOX4 LIMK1 RFC2 ELP1 LRP1 SMARCC2 NLRP3 PAX1 ERCC6 TINF2 MAPT NGLY1 GTF2I SMARCB1 TBL2 PAX3 ARID1A SMARCD1 ELN SMARCE1 OVOL2 EYA1 COL17A1 CLIP2 SOX10 KRT3 SDHD SCN9A HLA-DRB1 NOP10 LIFR ZEB1 GMPPA AP1B1 GRHL2 VSX1 TWIST2 ARID2 BAZ1B DST IGSF3 NHP2 ALX4 SMARCA4 AAAS SOX11 DKC1 SIX1 TRAPPC11 ERCC8 KRT12 OCRL SEMA3E FGFR2 UBR1 CHD7 FGF10 GTF2IRD1 COL8A2 SEMA4A CLDN10 TP63 DPF2 SETBP1 ARID1B HP_DECREASED_LACRIMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LACRIMATION FGFR3 GMPPA FGFR2 AP1B1 ELP1 FGF10 DST SOX10 NGLY1 PAX1 ALX4 ERCC6 AAAS MAPT CLDN10 TRAPPC11 SETBP1 ERCC8 HP_BLUE_IRIDES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_IRIDES TYR PAX3 LIMK1 OCA2 RFC2 PDE4D MITF BAZ1B EDN3 ELN PRKAR1A UBE3A MLXIPL GTF2I TBL2 MC1R TP63 SOS1 SOX10 HERC2 EDNRB UROC1 GTF2IRD1 CLIP2 PAH SLC45A2 HP_UPPER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EYELID_COLOBOMA ALX1 FRAS1 SLC25A24 TCOF1 FREM1 TWIST1 HP_LONG_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PALPEBRAL_FISSURE OTUD6B PTCHD1 ACSL4 PIGY KMT2D RAC1 NXN FRMPD4 RNU4ATAC GATAD2B ZNF711 CLCN4 WNT5A DLG3 ARX KRAS KDM6A SYP FTSJ1 DVL1 CCNK ROR2 BRAF PCLO CLP1 USP27X GDI1 MIR140 PIGW PIK3R2 MAP2K2 DMD UPF3B SLC9A7 CNKSR2 PDE4D RPS6KA3 MID2 ACTG1 RAB39B HCFC1 FZD2 MAP2K1 ARHGEF6 PIGV PIGO FIBP ALG13 CXorf56 AGTR2 TSPAN7 PIGL IQSEC2 MECP2 DVL3 ANKRD11 PAK3 BMP1 USP9X ADNP PGAP3 HNRNPK MED12 ACTB PGAP2 ZNF41 IL1RAPL1 ZNF81 CAMK2G HP_GAZE_EVOKED_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_NYSTAGMUS VLDLR STUB1 MRE11 CACNA1G SCN8A ITPR1 COQ2 RFC1 CACNA1A CACNB4 SLC1A3 GRM1 ATXN3 WWOX ATXN1 SPG11 UBAP1 BEAN1 TBP SPTBN2 GRID2 ATXN10 TDP1 PIK3R5 SACS KCND3 UROC1 ATXN2 SYT14 SETX AFG3L2 FGF14 PRKCG APTX HP_DYSMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIC_SACCADES MRE11 ITPR1 TGM6 EEF2 PEX10 ANO10 ATXN2 SCYL1 TPP1 SPTBN2 ATXN3 AFG3L2 ATXN1 ATXN8OS MFN2 FGF14 UBAP1 SYNE1 HP_RED_GREEN_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_GREEN_DYSCHROMATOPSIA ACO2 OPA3 OPN1LW OPA1 FGF14 NR2E3 OPN1MW HP_AMBLYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBLYOPIA TANGO2 TWIST1 LOXL3 GPR143 SMCHD1 CHST3 B3GAT3 COL9A3 ELN KIF11 AP4E1 MLXIPL AFF4 TRIO FGFR2 GDF2 SOBP PHOX2A PIGN WDR26 FGFR3 COX7B FBN1 COL9A2 H1-4 CRYBB1 CRYAA MED25 PAX6 YME1L1 ZEB1 AP4S1 TUBB3 LYST COL9A1 SCN8A COL4A1 GRHL2 ERF CHN1 VSX1 CBS ARHGEF2 MAFB HCCS SMAD4 NFIX NPHP4 ACVRL1 AP4B1 CRYGC ADAMTSL4 WARS2 COL11A1 ENG SALL4 LAMA1 OCRL AP4M1 NDUFB11 TBX1 ADNP DPP6 C1QBP PITX2 NR2F1 P4HTM RIC1 LIM2 EPRS1 COL8A2 XYLT2 OGT PUF60 OVOL2 HP_SCLEROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROCORNEA COX7B MAB21L2 TCTN2 RAX RPGRIP1 FOXE3 DHCR7 NSD2 BMP4 MKS1 PRDM5 HCCS CC2D2A TMEM67 TMEM231 CENPF FIG4 NDP TENM3 RPGRIP1L SCARF2 NELFA LETM1 TMEM107 NDUFB11 SLC25A24 TBX1 HMX1 PXDN CEP290 SOX2 CEP55 B9D2 TMEM216 VAC14 WDPCP B9D1 CSPP1 FGFR1 HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS SUCLA2 RAB3GAP1 OPA1 PDSS2 PRPS1 POGZ CNGB3 PSAP ERCC6 POMGNT1 RAB3GAP2 ACOX1 ELOVL4 POLG RDH11 GALC TCIRG1 ZNHIT3 ARSA EMC1 LAMA2 ATXN1 NOTCH3 SLC25A22 PROM1 TYR TNFSF11 RAB18 ARHGEF2 GJC2 FXN TIMM8A TBC1D20 SNX10 SCAPER AAAS CLCN7 ERCC8 PLA2G6 COQ2 NDRG1 PRPH2 TTPA MFN2 ABCA4 HP_DIPLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIPLOPIA CACNA1G DARS2 MYO9A CHRND SCN4A ERCC5 RAPSN PDCD1 PINK1 DNAJC13 LRRK2 SNCA VAMP1 COL13A1 AGRN SLC1A3 NAB2 TPP1 GBA ATXN3 SNAP25 CHAT MUSK SLC2A1 CHRNE TGFB1 TOP3A SLC18A3 VPS13C SPTBN2 NFKB2 SYNJ1 UCHL1 CACNA1A CHRNB1 TMEM240 CDH23 AIP PTPN22 DOK7 PARK7 HTRA2 ANO10 KCND3 HLA-DRB1 STAT6 KCNA1 NOP56 VPS35 MAPT MYO5A DKK1 EIF4G1 AK9 SLC5A7 SERPINI1 SYT2 ERCC4 PODXL GIGYF2 ERCC2 PRNP ATP1A2 CHRNA1 SLC25A1 ERCC3 HLA-DQB1 LRP4 PUM1 MEN1 PRKN DNAJC6 HP_LOWER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EYELID_COLOBOMA SF3B4 TCOF1 TXNL4A POLR1C EDNRA HP_SPARSE_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYELASHES RPL21 APCDD1 TP63 EDARADD RMRP DLX4 TRPS1 DSG4 EDNRA GTPBP2 FIG4 CST6 TCOF1 NF1 ZMPSTE24 CLDN1 CDH3 LIPH ALX1 DSP HR EDAR VAC14 LPAR6 ANTXR1 KRT25 RNU4ATAC KREMEN1 NOP10 SF3B4 EDA GJA1 GJB2 BANF1 TWIST2 GJB6 ITGA3 LMNA DPH1 NHP2 ALX4 CWC27 MPLKIP DOLK KRT74 KANK2 DKC1 TSR2 LSS SPINK5 SNRPE COL11A1 EBP MBTPS2 EPS8L3 POLR3A TMCO1 B4GALT7 NECTIN1 NECTIN4 WDR35 SOX18 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 BEST1 IDH3B RPE65 SAG MCOLN1 RHO LRAT RGR PPT1 ACOX1 POMGNT1 ALG3 GUCY2D USP45 HP_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTROPION ITGB4 KMT2D ALOXE3 TGM1 XPC DLX4 TARS1 MPLKIP ALOX12B PLEC DDB2 SULT2B1 FLI1 NIPAL4 KDM6A XPA CERS3 ERCC3 LRP4 DHODH CDH1 ERCC6 ABCA1 ERCC5 ERCC2 ITGA6 TWIST2 FERMT1 PNPLA1 ABCA12 APC CTNND1 CYP4F22 GTF2H5 GRIA3 CDC42 UROS ABHD5 GBA CTLA4 MMP1 FOXC2 ERCC4 POLH MBTPS2 POLR3A COL7A1 LIPN GATA1 GTF2E2 CARD14 RNF113A TNFRSF1B CD28 SDR9C7 HP_OCULOMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_APRAXIA MRE11 TREM2 GBA PIGY CEP104 TMEM216 TMEM231 PNKP TPP1 IFT172 TOMM40 INPP5E CEP41 NGLY1 CEP120 SORL1 PEX2 MKS1 ARMC9 CC2D2A PSEN1 ATXN2 BRAF RORA CRKL TUBB3 TMEM237 PIK3R5 CACNA1G PIGO SQSTM1 NPHP1 CSPP1 AHI1 PIGL BCR LAMA1 B9D1 ARL13B XRCC1 DNM1L KDM1A TMEM107 TMEM67 RPGRIP1L MAST1 PSEN2 MAPT ZC4H2 ABCA7 TCTN2 PIBF1 APP KIAA0556 UFC1 AFG3L2 PIGW ARL3 KIAA1109 FA2H KIAA0586 SETX SPR TMEM138 MAPK1 SUFU APTX STUB1 TCTN1 EXOSC3 CEP290 GRID2 MYO9A TOE1 CPLANE1 PGAP3 HYLS1 DLAT CWF19L1 SLC30A9 PGAP2 PIGV TYROBP GPAA1 ITPR1 HP_EYELID_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_APRAXIA PLA2G6 PANK2 MAPT ATP13A2 SYNJ1 HP_PETERS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETERS_ANOMALY PAX6 FOXE3 FOXC1 CENPF POMT1 FKTN B3GLCT PITX3 NCAPG2 FKRP POMT2 LARGE1 PITX2 RERE TRIM44 CRPPA CYP1B1 HP_LIPEMIA_RETINALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPEMIA_RETINALIS LPL G6PC SLC37A4 APOC2 GPIHBP1 HP_NYCTALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYCTALOPIA SEMA4A SNRNP200 PROM1 OAT TTLL5 LRAT GNAT1 CNGB3 CACNA1F IFT172 RAB28 MVK REEP6 PRPF6 PDE6A BEST1 IMPG2 KIAA1549 SAG PRPH2 PEX7 GUCA1B CLRN1 PDE6G COG4 GGCX GRK1 RBP3 ARL3 CA4 CRX TOPORS EYS PHYH IDH3B MFRP RDH12 PEX26 ADAM9 ZNF408 SCAPER MFN2 PITPNM3 ARL2BP ROM1 RAX2 ATF6 CABP4 MYO7A RLBP1 PDE6B USH2A USH1C PEX3 MMP19 POC1B PCYT1A PRPF3 TTPA WHRN OPN1MW FAM161A SLC7A14 SPATA7 KCNJ13 POMGNT1 NRL CYP4V2 ABCA4 UNC119 RHO RDH5 PDZD7 AGBL5 FSCN2 TRPM1 CACNA2D4 RPGR PEX1 HADHA PEX13 AIPL1 GUCY2D RP1 DRAM2 RPE65 PRPF8 CNNM4 CNGB1 MAK PRPF4 ZNF513 IMPDH1 AHI1 IFT140 GPR179 OPN1LW CHM CFAP410 KCNV2 PEX2 CDH23 OFD1 PCDH15 HSD3B7 USH1G ADGRV1 MERTK ARL6 LRIT3 HARS1 PEX16 TRAPPC9 PEX11B GRM6 CDHR1 ARSG PEX5 CNGA1 DHDDS TULP1 KIZ PEX12 NYX C8orf37 RGR AHR DHX38 IDH3A POU3F4 NEK2 NR2E3 CNGA3 BBS2 PEX6 GUCA1A ITM2B RP9 KLHL7 ELOVL4 TRNT1 STIM1 CRB1 CEP78 PEX19 VPS13B NMNAT1 CERKL BBS4 GNB3 HBB RIMS1 RP2 PRPF31 PRCD SLC24A1 MYO6 RP1L1 PDE6H RPGRIP1 ARHGEF18 PEX10 CIB2 PEX14 TUB C1QTNF5 TTC8 HK1 RDH11 IFT88 PCARE ESPN AP3D1 CWC27 HGSNAT FLVCR1 FGFR2 MT-TS2 HP_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_NYSTAGMUS CACNA1G GPR143 ITPR1 HPS4 MARS2 GRM1 ADAR TPP1 AIFM1 SURF1 POLR3B MT-ATP6 DAB1 LARGE1 IQSEC2 ALG13 ALDH18A1 SACS UROC1 SYT14 SPTBN2 FA2H ATP13A2 TTBK2 TBC1D24 DPP6 STUB1 FRMD7 CACNA1A GCH1 ANO10 TAF2 HPS5 NFIX OPA1 KIF1C IARS2 BLOC1S3 GBA CNGB3 BEAN1 KCNV2 HARS1 GRID2 NUP62 MAB21L1 DNM1L KCND3 CWF19L1 LRP5 HPS3 SNIP1 SIX6 TMEM126A HP_PHTHISIS_BULBI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHTHISIS_BULBI SETD5 RAD21 BCOR LRP5 SMC1A CDH11 COL18A1 HDAC8 ATOH7 NIPBL SMC3 KMT2A MARK3 HP_HYPODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPODONTIA DNM1 NKX2-1 CTBP1 MSX1 LIMK1 SCN3A EDAR WDR35 SLC13A5 NOP10 DDX59 POLR3B TSPEAR ACTL6B TP63 ARL6 POLR3A ELN CNKSR2 RPS6KA3 CCDC28B SLC1A2 PIGL PTH1R ATP6V1A PORCN ATP6V1B2 DYNC2LI1 WRAP53 FGFRL1 FZD2 KCNH1 PUS7 IFT122 EDA SCN8A SYNJ1 WWOX TRAK1 EVC NTRK2 TRAF6 ROR2 HMGA2 NECTIN1 COL17A1 TBX3 ADAMTS2 EDARADD PITX2 TRIM37 GABRA2 CDH1 FGFR3 NXN HSPA9 CKAP2L RMRP IKBKG MLXIPL CACNA1B CLDN1 KMT2D LETM1 PPP2R3C MBTPS2 CEP152 SLC39A13 APC FGF3 LAMB3 LAMC2 BAZ1B RTEL1 EVC2 CYFIP2 OFD1 IRF6 LEMD3 FGFR2 TINF2 FGF10 AP3B2 EEF1A2 KCNB1 GTF2IRD1 STXBP1 NUS1 CACNA1A KDF1 RFC2 FLNB GABRG2 GRIN2D LAMA3 GTF2I WDR19 FOXC1 IFT52 LRP4 CLTC NSD2 KCNN3 DVL1 ACOX1 LMNA CLIP2 IRX5 NECAP1 NPM1 SZT2 GRHL2 AARS1 UBA5 ARV1 IFT43 WNT10A KIF1C RBM28 GLI1 NELFA DVL3 YWHAG CPLX1 DNAJC21 PARS2 NFKBIA PIK3R1 POP1 TERC TERT C8orf37 KCNA2 TRIO CTSK BBS1 PPP3CA WNT5A FGD1 GABRB2 TRPV3 KDM6A PARN TBL2 CHSY1 PRKAR1A GRHL3 FGF12 DHDDS POLR1C PERP ITGB4 NHP2 XYLT1 GABRA5 GDF5 USB1 BCL11B ZMPSTE24 HCN1 CTC1 SYNGAP1 DKC1 HP_CARIOUS_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARIOUS_TEETH TBCE LIMK1 RFC2 ATP6V1A PPP1CB TCIRG1 MPLKIP IRF5 LAMA3 ERCC6 MMP13 GJA1 ATP6V0A2 KRT16 NOP10 TERT PTEN CAV1 GTF2I CDH1 OFD1 ELN CA2 LAMB3 SNRPN PWAR1 CLIP2 COMT SLC10A7 NPM1 ELANE SEC23A GTF2H5 WRAP53 CLCN7 JMJD1C ENPP1 ERCC3 DNAJC21 SHOC2 COX4I2 ATR IFT52 GNAS NHP2 VDR APC CCR6 FGF3 HIRA DKC1 LAMC2 RBM28 RREB1 MYO7A ERCC8 AKT1 NECTIN1 UBE3B USH2A TNFSF11 ALPL COL17A1 NPAP1 MKRN3 EP300 SRP54 COG6 FAM111A SBDS ERCC2 CRLF1 IFIH1 TBX1 COL7A1 FERMT1 WHRN TERC GTF2E2 SLC24A4 RNF113A HLA-DRB1 SFRP4 FGFR3 CDH11 PLEC KRT17 GALNS TARS1 KLK4 SNORD116-1 PAX1 CTSK GJB2 TRPS1 PDZD7 FGF10 TRPV3 PTCH2 MAPRE2 PARN GLB1 KRT14 TINF2 TBL2 SUFU PEPD MBTPS2 TGFB1 ARVCF PWRN1 SGMS2 CDH3 AGA NDN CNNM4 ACP4 ATP6V1E1 ABL1 PERP ITGB4 BAZ1B RTEL1 RUNX2 GJB6 SEC24C MMP1 TP63 PTCH1 OCRL USB1 FGFR2 HERC2 KRT6B CTC1 MAGEL2 GP1BB THOC6 KRT6A ADGRV1 GTF2IRD1 CCN2 UFD1 SNORD115-1 EFL1 AP3B1 COL3A1 CTNND1 HP_ANODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANODONTIA DVL3 DCAF17 NECTIN1 FZD2 EDARADD RPS6KA3 DVL1 GRHL3 EDAR IFT122 WNT5A FLNA EDA HP_ABNORMALITY_OF_THE_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INCISOR FGFR3 PTCH1 BLM MSX1 RIPK4 GATAD2B DLX4 BCOR DOCK7 KCNK9 NEK1 CTCF SIX3 EIF4A3 GAS1 EDA IRF6 NODAL EP300 SHH FOXH1 STAG1 ANKRD11 BMP4 CHSY1 TUBGCP2 COL11A1 ATRX ALX3 DISP1 CDH1 CDON TGIF1 KCNMA1 EVC DYNC2LI1 B3GLCT NHS BRF1 GJA1 GRIA3 NECTIN1 TP63 EVC2 DNMT3A CCBE1 DLX3 SUFU FGF8 VPS13B GLI1 FGFR2 DLL1 GLI2 NAA10 FARS2 CREBBP FGF10 WNT10A TBC1D24 DLG1 TDGF1 FGFR1 ZIC2 ARHGAP29 HP_OLIGODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODONTIA TRMT10A ATP6V1B2 WNT10A EDA AXIN2 WNT5A SLC25A24 POLR3B FLNA CLDN1 BCOR TP63 EDARADD LTBP3 POLR3A PPP1R15B KCNJ2 PIK3C2A TGFA DVL1 CEP152 MSX1 CHSY1 PTHLH PORCN HUWE1 KREMEN1 SATB2 PAX9 FZD2 RPS6KA3 SUMO1 SH3BP2 CCBE1 LRP6 RHOA DVL3 ANKRD11 BCL11B UBR1 IRF6 FGFR1 HNRNPK WNT10B MAF HP_DENTAL_CROWDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_CROWDING SNX14 SMS RPL10 CCDC47 NSDHL PLCB4 TRIO NOTCH3 COL3A1 NONO AMMECR1 C12orf57 ARL6 EP300 ZMPSTE24 UPF3B LMNA KIF15 DHCR7 CCDC28B SETBP1 ATR AMER1 DSE FGFR1 GJA1 PLOD1 CBS BANF1 MED12 TAF6 SOX5 PCGF2 LGI4 SCARF2 SETD5 TRPS1 FRAS1 BMP2 NAA10 CREBBP GRIP1 DVL1 COL1A2 SPECC1L SHANK3 TRIM37 PEX6 GNAI3 BCOR LOX SET EDNRA BBS1 FGFR2 INSR TAB2 FREM2 POLD1 ROR2 ATP6V1E1 FBN1 MYH3 FLCN IL6ST MASP1 SATB2 ABL1 ASXL3 XYLT1 PYROXD1 IL1RAPL1 OCRL ZDHHC9 WNT5A RPS6KA3 TECPR2 EDN1 DVL3 HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH FGFR3 IQSEC2 FGFR2 FGF10 RUNX2 DEAF1 EDNRA CTSK ERCC6 RAI1 ERCC8 FLII HP_DELAYED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_TEETH CCDC8 PDGFRB ELMO2 CLCN4 ABCA5 ARID1B FTSJ1 SUOX AMMECR1 EDA2R POLR3A RPS6KA3 CTSK UPF3B FGFR2 TWIST2 PORCN NIPBL DYNC2LI1 RAI1 RAB39B HCFC1 STAT3 GJA1 ARHGEF6 CHST3 RUNX2 CXorf56 ERCC8 SEC23A EVC SEMA3E LONP1 CHD7 SNX14 ARX NPHS1 CYP27B1 IL1RAPL1 SMC3 SETBP1 SFRP4 GNAS MMP2 FGFR3 KCNH1 ROR2 TP63 FGD1 EDNRA MYSM1 GJB2 IKBKG POLR3B TRIP11 BCOR DVL1 SMARCB1 RAD21 KCNJ2 IGF1 CNKSR2 MID2 SLC39A13 TCIRG1 IQSEC2 FLNA OBSL1 TNFSF11 IL11RA NAA10 EVC2 GJB6 SNX10 CCBE1 FAM20A TSPAN7 CLCN7 MECP2 OCRL EDA WNT5A UBR1 KCTD1 FGF10 SMC1A DVL3 RIC1 DMP1 PTCHD1 ACSL4 ACP5 TRIO CDH11 ERCC6 MSX1 LIG4 USP27X DEAF1 LMNA PDE4D PTCH1 SLC29A3 VDR ALG13 GHR KAT6B ATP6V0A2 ENPP1 FGF3 AGTR2 ADAMTS3 GLI1 PAK3 THRA NSUN2 IDS SEC24D PIK3R1 TBC1D24 ADAMTSL1 ZNF41 FLII SETD5 ZEB2 FRMPD4 ZNF711 CUL7 DLG3 TRPS1 STX16 SH3PXD2B SYP SP7 GDI1 DMD SLC9A7 PRKAR1A PTHLH KMT2A SLC13A5 TFAP2B GDF5 TNFRSF11A CYP2R1 USP9X ZMPSTE24 TGFB1 RECQL4 MED12 HDAC8 FAT4 ANTXR1 ZNF81 P4HB AMER1 HP_HYPOPLASIA_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_TEETH ITGB4 EDARADD MPLKIP CSTB PLEC PCNT ERCC6 GJA1 NF1 COL17A1 DDX59 GNAS LAMA3 OCRL C12orf57 EP300 ZMPSTE24 PPP1R15B OFD1 LAMC2 LMNA ERCC4 LAMB3 ROGDI ITGA6 ATR TTC7A PORCN SEC23A GTF2H5 GRHL2 AIRE ENPP1 ERCC3 RUNX2 VDR RHOA ERCC8 ALDH3A2 LONP1 COL7A1 CREBBP COG6 MMP1 ERCC2 DNAJC21 IFIH1 CYP27B1 GTF2E2 RNF113A NECTIN4 TRMT10A FGFR3 TARS1 IFT43 GALNT3 AMBN NEK1 STX16 KRT14 FAM20C WNT10A FLNB KCNJ2 RECQL4 AMELX SMCHD1 ACP4 UBR1 CLDN1 EDAR NUP133 KIF7 CYP2R1 FGFR2 FGF10 IFT122 ODAPH PEX1 ITGB6 HP_WIDELY_SPACED_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_TEETH SETD5 ZEB2 CERT1 TP63 SHANK3 CCDC47 AIMP2 TBCD GALNS HDAC8 NIPBL IFT43 UBE3A MAN2B1 NONO AIP GLB1 CDH3 KMT2D LTBP3 FGF3 RAD21 RPS6KA3 MBD5 SIN3A RNF113A PIGA WDR26 CHST3 DLX3 MED13L KDM1A KMT2A PIGL B3GLCT SSR4 PIGS ACP4 CDC42 IFT52 ACVR1 PCGF2 EIF2S3 KANSL1 ATRX IFT140 ZSWIM6 PRKD1 TBX4 KDM6A IDS IFT122 TCF4 GPR101 SMC1A RDH11 LARP7 TBL1XR1 TBC1D24 SMC3 GUSB NECTIN4 DPH1 WDR35 SMARCA2 ADNP HP_DENTAL_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_MALOCCLUSION SHANK3 DSPP LIMK1 RFC2 PLCB4 CDH11 ERCC6 GPC4 GTF2I MAP2K1 EP300 ELN KCNN3 CA2 BRCA1 DPM2 BRAF CLIP2 IRX5 ATR PORCN AMER1 TCIRG1 ATP6V1B2 PTPN22 CHRNE FGFR3 KCNH1 GJA1 PLEKHM1 LRP5 FAM83H CD247 CDC42 HSPG2 PCGF2 ASPH GFPT1 RHOA PTPN2 ERCC8 COL5A1 FRAS1 GLI2 CREBBP GRIP1 DVL1 BRF1 DCHS1 PIK3R1 PCYT1A ENAM IL2RB OBSL1 PTPN11 GNAI3 KLK4 STAT4 PAX1 SMAD3 TRPS1 IL2RA COL1A1 MLXIPL KDM6A TBL2 FREM2 BCOR BMP4 NOTCH2 PRKAR1A FLCN RDH11 SLC39A13 CDH1 MSX1 SMCHD1 ANKRD55 COL5A2 DVL3 FLNA NECTIN1 BAZ1B RELT CLCN7 TP63 FAT4 SKI SOS1 DLX4 THOC6 FGFR2 EDN1 GTF2IRD1 SOST GPC3 DLG1 RPS6KA3 IRF6 ITGB6 SH3PXD2B ARHGAP29 HP_MICRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRODONTIA WNT10B ATP6V1B2 SMARCAL1 CCDC47 CHST3 WNT10A LIMK1 EDA RFC2 PCNT WDR35 GJA1 PLXND1 TP63 GTF2I TWIST2 WDR19 CDH3 EDARADD HEPHL1 FOXC1 IFT52 LTBP3 DPF2 SMC3 EDA2R ELN UBE3B TFAP2A PIGL CLIP2 C1R DYNC2LI1 PAX9 C1S IFT122 DNAJC21 NHP2 IFT43 PCGF2 GHR ATP6V0A2 RHOA SIX1 MYO7A SEC23A GLI1 IFT140 COL5A1 EVC PRKD1 USH2A EDAR SRP54 SBDS MCOLN1 PITX2 TMCO1 CHSY1 WHRN CACNA1C NECTIN1 ORC1 IDUA WDR4 B3GAT3 CKAP2L TRPS1 SLC25A24 PDZD7 COL1A1 MLXIPL MAPRE2 RBBP8 TBL2 KMT2D FAM20C CTCF FGF3 AXIN2 KAT6B TGFA EYA1 MSX1 PIK3R1 PIGA RECQL4 DLX3 AMELX NOP10 COL5A2 SUMO1 BAZ1B EVC2 LAMB3 LRP6 EIF2AK3 SMOC2 BCL11B UBR1 KDM6A IRF6 REV3L FGFR1 ADGRV1 GTF2IRD1 P4HB EFL1 COL3A1 HP_MISALIGNMENT_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISALIGNMENT_OF_TEETH SNX14 SMS TWIST1 SHANK3 CCDC47 NSDHL LIMK1 CDH3 TCF4 AMMECR1 ARL6 ELN RPS6KA3 UPF3B STAG1 BRCA1 CCDC28B DPM2 SETBP1 ATR MED13L PORCN AMER1 NIPBL ATP6V1B2 B3GLCT PTPN22 FGFR3 FZD2 KCNH1 GJA1 LRP5 PLOD1 CD247 BANF1 HSPG2 MED12 IFT52 GFPT1 LGI4 RHOA KANSL1 BPTF SCARF2 AEBP1 ERCC8 PLCB4 IFT140 MMP20 FRAS1 UBE3B ROR2 BMP2 WDR26 EP300 ADAMTS2 DCHS1 GPR101 POLR1D CHSY1 SPECC1L RAB3GAP2 SMC3 TRIM37 ATRX SMARCA2 KDM5C NXN TP63 SMCHD1 XRCC4 AIMP2 CA2 GATAD2B TBCD GALNS HDAC8 BCOR IFT43 LOX EDNRA UBE3A IL2RA MAN2B1 MAP3K7 INSR IFT57 MLXIPL AIP TAB2 GLB1 DVL1 FREM2 KMT2D FGF3 RAD21 GNAI3 EYA1 MBD5 FLCN FGFR2 PIGA SLC39A13 DLX3 AMELX KDM1A MASP1 SSR4 BRF1 ANKRD55 ACP4 DVL3 FLNA ASXL3 NECTIN1 BAZ1B PTEN OFD1 ALKBH8 IL1RAPL1 OCRL ZSWIM6 ACTL6B ZDHHC9 WNT5A TBX4 THOC6 SMC1A RDH11 TECPR2 EDN1 NONO GTF2IRD1 LARP7 RIC1 SOST DLG1 ITGB6 SH3PXD2B ADNP LBR ARHGAP29 RPL10 NOTCH2 CERT1 DSPP RFC2 TRIO PSMD12 CDH11 NOTCH3 RAB3GAP1 ERCC6 ADAMTS10 COL3A1 GPC4 GTF2I LAS1L MAP2K1 LTBP3 C12orf57 ZMPSTE24 SOBP KCNN3 LMNA ANKH KIF15 DHCR7 SIN3A RNF113A PDE4D BRAF CHST3 CLIP2 IRX5 ALX3 PIGL DSE TCIRG1 FGFR1 KCNMA1 NHS CHRNE PLEKHM1 FAM83H CBS CDC42 TCOF1 GPR68 TAF6 GNAS DNMT3A ACVR1 SOX5 PCGF2 ASPH SIX1 PTPN2 SETD5 TRPS1 COL5A1 SPART PRKD1 GLI2 NAA10 CREBBP ANKRD11 GRIP1 IDS POLR1C COL1A2 TBL1XR1 PIK3R1 TBC1D24 PCYT1A ENAM NECTIN4 IL2RB DPH1 WDR35 SIM1 ZEB2 PEX6 OBSL1 PTPN11 PACS1 KLK4 STAT4 SET DOCK7 PAX1 BBS1 SMAD3 MGAT2 COL1A1 KDM6A TBL2 POLD1 ATP6V1E1 FBN1 MYH3 BMP4 PRKAR1A TUBGCP2 IL6ST CDH1 MSX1 PTH1R KMT2A SATB2 PIGS COL5A2 ABL1 USP9X RUNX2 XYLT1 HMGB3 RELT PYROXD1 CLCN7 EIF2S3 FAT4 SKI SOS1 DLX4 CUL4B RAI1 IFT122 GPC3 IRF6 GUSB HP_NATAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NATAL_TOOTH CILK1 CEP120 EHMT1 BCL11B MKS1 INTU LMNA KRT17 ZMPSTE24 JUP NEK1 GLI3 PTH1R KDM6A DSP C2CD3 FAM20C KDF1 FGFR2 EVC POLR3A EVC2 FLNA SPECC1L AMER1 HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH CTSK SMARCB1 ROR2 NPHS1 TBC1D24 ADAMTSL1 FAM20A TFAP2B KCNJ2 GJA1 RUNX2 HP_CONICAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_TOOTH FGFR3 TP63 ATP6V1B2 EDA EDARADD NECTIN1 EVC2 IKBKG CCBE1 NEK1 ATP6V0A2 MSX1 ALX4 RHOA TSPEAR EVC RUSC2 GLI1 DLX4 FGF3 CDH1 FGFR2 DHODH FGF10 BMP4 WNT10A SATB2 NFKBIA DLG1 IRF6 CTNND1 DYNC2LI1 B3GLCT NECTIN4 ARHGAP29 HP_DIASTEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTEMA ANKRD11 KDM5C PACS1 UBE3B ACTL6B GATAD2B STAG1 CHSY1 RDH11 DNMT3A HMGB3 TUBGCP2 ATRX ALX3 MGAT2 IFT57 KCNMA1 NHS HP_PERIODONTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODONTITIS TCIRG1 NOTCH2 TERT NHP2 RTEL1 CAT SLC35C1 ELANE C1S CTSC SRP54 NOP10 FGF3 PARN AEBP1 PLG COL3A1 OCRL USB1 TINF2 CTC1 CXCR4 C1R FERMT1 DKC1 GORAB ITGB2 NPM1 TERC AP3B1 GFI1 WRAP53 LYST HP_AMELOGENESIS_IMPERFECTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMELOGENESIS_IMPERFECTA SLC13A5 ACP4 FAM20A WDR72 FAM83H KLK4 ENAM ORAI1 LAMA3 LAMB3 ROGDI AMBN RELT CLDN19 AMTN DLX3 MMP20 LTBP3 STIM1 TMEM165 ODAPH DNAJC21 PEX1 CNNM4 AMELX SLC10A7 SLC24A4 ITGB6 HP_UNERUPTED_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNERUPTED_TOOTH FGFR1 SMCHD1 FLNB APC CDH11 IFIH1 TCF4 PTH1R ANTXR1 MAP3K7 FLNA HOXD13 TRIO HP_PSYCHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOSIS ALAD PDGFRB C9orf72 SH2B1 TTC19 FCGR2B SLC25A13 CTLA4 ACADS MYORG HFE PDGFB GRN PRDM8 CACNA1A MT-TF SOBP UPF3B GSS ALDH5A1 SNRPN PWAR1 STAT4 TBC1D7 ZFYVE26 MECP2 CBS EPM2A MED12 ATP13A2 MT-ND1 MT-ND4 USP8 SLC6A19 CDH23 VPS13A MT-CO1 SPART SQSTM1 TWNK ITM2B MT-TW NPAP1 MKRN3 MT-TQ DNMT1 MT-ND5 PRKAR1A ABCD1 GCLC SLC7A7 IRAK1 PRNP CLN8 MT-ND6 PCDH19 PPOX NPC2 SLC12A6 SNORD116-1 PARK7 ATXN7 MAPT SLC20A2 PAK3 NDP MT-CO3 HMBS KCNT1 WFS1 DNASE1 AIP TMEM106B ALDH18A1 PWRN1 PSEN1 NDN MT-CO2 RPS6KA3 PDE11A MT-TS2 TREM2 CHMP2B PUS3 PTPN22 SPP1 DCAF17 LMBRD1 HERC2 ZDHHC9 TREX1 CLN3 NHLRC1 MAGEL2 PANK2 GNAS MT-TL1 FCGR2A MT-TH VCP NAGS SNORD115-1 NPC1 PAH HP_RESTLESSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESSNESS DEAF1 C9orf72 PFN1 PINK1 DNAJC13 SNCA DAO TOMM40 GBA SLC25A13 CHMP2B HNF1A VCP RNF13 SORL1 LRRK2 GRN TREM2 SUOX DCTN1 TBK1 KIF11 CACNA1A PON2 PON1 PSEN1 SYNJ1 MED13L MAPT ZBTB20 UCHL1 PTS PPARGC1A ADA2 NEFH HNRNPA1 SOD1 FIG4 CLN8 TSEN54 PRPH TSHR UCP2 HNF4A TARDBP FUS ECE1 SQSTM1 PODXL HSD17B10 GIGYF2 GLE1 GABBR2 HTT SPAST PRKAR1A CHCHD10 MATR3 EIF2S3 PON3 ATRX NEK1 PRKN GCSH PSEN2 KDM5C MECP2 OPTN ABCA7 APP PRNP ANG KCNJ11 GLT8D1 VAPB CFAP410 UNC13A PAK3 NDST1 AFF2 ABCC8 TMEM106B VPS13C ANXA11 BRAT1 GLDC PARK7 PDE11A HTRA2 ERBB4 WAC UBQLN2 NGLY1 TAF15 VPS35 IGF1R EPHA4 ATXN2 EIF4G1 SLC19A3 AMT ACAT1 GNAS NAGS CCNF DNAJC6 HP_EMOTIONAL_LABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMOTIONAL_LABILITY PFN1 BAP1 NDUFS1 TACO1 NDUFAF6 LIPT1 EIF2B3 TERT ELP1 EIF2B4 DAO PSAP SMO SURF1 LAS1L TARDBP DCTN1 TBK1 NDUFA12 NDUFS8 NDUFV2 PON2 SLC6A19 PON1 TREM2 SLC39A4 NDUFA13 SDHA ECHS1 NDUFS7 PPARGC1A RNF168 SCN8A PRKACA NEFH HNRNPA1 SOD1 B4GALNT1 GNA11 C19orf12 ARSA FIG4 NHLRC1 PIK3CA HLA-DRB1 PRPH COX15 PET100 VCP NDUFAF2 FUS EPM2A SMARCB1 SPART CTSF ATP1A3 GLE1 PRNP AKT1 CHCHD10 MATR3 HLA-DQB1 PDHA1 PON3 NEK1 CASR PGK1 PDCD1 LEPR OPTN HDAC8 NDUFS3 NDUFS2 NDUFS4 CHMP2B ANG C9orf72 GLT8D1 VAPB CFAP410 UNC13A NDUFAF5 NDUFA10 BCS1L SARDH FTL EIF2B1 NTRK1 MTPAP MTFMT NDUFA2 ANXA11 COX10 POLG NDUFV1 PDGFB FOXRED1 ERBB4 NDUFA4 UBQLN2 EIF2B5 TAF15 SMARCE1 SQSTM1 EIF2B2 EPHA4 ATXN2 TRAF7 SUFU NDUFA9 PLA2G6 PANK2 DDC NF2 MED12 SLC19A3 CCNF HP_DEPRESSIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSIVITY PDGFRB PFN1 DNAJC13 LIMK1 HTT LMAN2L CLN6 TSC2 FMR1 PSAP FGFR1 CPOX GBA GNAS DRD2 EPCAM NOTCH3 KISS1 ELN GABRG2 CLRN1 PON1 AARS2 PINK1 TBP ATRX RRM2B MAPT GPR35 UCHL1 PSEN1 SPRY4 PPARGC1A TACR3 FGF17 GNA11 C19orf12 SNCA CP GLA HLA-DRB1 CHMP2B KCTD17 MT-ND4 PDGFB MLH3 MSH2 NR4A2 USH2A ATP1A3 GIGYF2 PRNP TCF4 USH1C MT-TQ DNMT1 RUNX1 HLA-DQB1 NEK1 ZC3H14 CLIP1 CACNA1G COQ2 TOR1A POLG OPTN MECP2 MAN2B1 C9orf72 UNC13A GNRHR MT-CO3 WDR11 GRN KCNT1 ARVCF FBXO31 VPS13C MED25 SQSTM1 SLC6A4 MST1 MAPK1 MBOAT7 TRAPPC9 ARSA ERBB4 UBQLN2 WFS1 MED23 SLC18A2 ARMC5 OCRL ATXN8OS USH1G ADGRV1 HS6ST1 GTF2IRD1 UFD1 TWNK MT-TH CCNF SGCE TARDBP RFC2 PLA2G6 TTC19 XPR1 SNCAIP LRRK2 PRKCG DCTN1 PROKR2 TREM2 CLIP2 COMT GABRA1 XK TBC1D7 PRKACA JMJD1C NEFH SOD1 FRRS1L MT-TL2 PRSS12 KDM5B DMPK CEP78 HIRA PPOX BCR VCP EPM2A DNAJC5 MT-CO1 PGAP1 MSH6 PMS1 MAN1B1 MT-ND5 PRKAR1A RSRC1 DUSP6 HBB ST3GAL3 IQSEC1 CISD2 GSN MT-ND6 EHMT1 ALMS1 LMNB1 CHD7 STX16 CFAP410 BCS1L PER3 TK2 TBX1 TUSC3 FA2H RPS20 AIMP1 FGF14 MT-CO2 DNA2 CLCN4 EDC3 CRBN GDAP2 SEC24C PAH FLT4 EPHA4 TMEM106B FGF8 EIF4G1 NSMF SLC2A1 AMACR SLC25A4 MT-TL1 KISS1R CBL ATP13A2 CHCHD10 DAO ATXN10 ADH1C CRADD PMS2 MT-TF PON2 LINS1 SYNJ1 FUS AP2S1 HNRNPA1 MSTO1 CACNA1H MT-ND1 RREB1 PROK2 MYO7A SLC45A1 JPH3 PODXL GLE1 GPR101 SPAST MATR3 PON3 WHRN COASY PDCD1 DCPS PDZD7 PPT1 AIP GLT8D1 TGFBR2 SMPD1 PIGC KCNJ2 ANOS1 HTR2A ABCA7 SARS1 AFG3L2 ANXA11 PTPN22 RPS6KA3 SEMA4A PARK7 CC2D1A POLG2 GCH1 DGUOK HTRA2 BAZ1B MT-TS2 TAF15 VPS35 ASXL1 ATXN2 C12orf4 CDH23 PCDH15 GP1BB PANK2 EZR HARS1 PIK3CA FAN1 FMO3 NSUN2 ARSG TNIK PER2 TET3 CSF1R GRIK2 GTF2I BMPR1A TET2 TBK1 TAC3 MT-TN FMN2 ATP7B SRPX2 THOC2 CRKL GRIN2A PTS FIG4 NHLRC1 PRPH CTSF MT-TW JRK GABRB3 CASR MLH1 PRKN SRSF2 CYP27A1 KRAS B3GALNT2 NDST1 HNMT ANG TSC1 VAPB SLC20A2 METTL23 WASHC4 TBL2 CIB2 HMBS PPP2R2B ESPN PDE11A CBS GNRH1 TECR IDUA USP8 GLUD2 DNAJC6 HP_AUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISM NLGN4X DNM1 SHANK3 PIK3CA DHCR7 LIMK1 SOX3 GJA5 PTCHD1 TSC2 SCN3A STS KCNAB2 SLC13A5 SCN8A ACTL6B ELN CNKSR2 SLC1A2 PWAR1 LHX1 PIGL ATP6V1A NLGN3 ATRX ADSL MED13L NIPBL PRDM16 TSC1 DPYD FTSJ1 TBX1 DYM SYNJ1 TBCK DYRK1A WWOX CHRNA7 TRAK1 AUTS2 RREB1 SEMA3E NTRK2 HNF1B NPAP1 CHD7 NAGA TCF12 SMC3 CACNA1C GABRA2 RERE YY1 PRKAR1A NRXN1 CACNA1B CHD8 WFS1 RAD21 MECP2 ARVCF FLCN NDN SKI SDHC TBR1 BAZ1B PROKR2 CYFIP2 UBE3A NDP SOX2 IL1RAPL1 HERC2 AP3B2 EEF1A2 MAGEL2 GP1BB KCNB1 REV3L SMC1A NONO GTF2IRD1 UFD1 STXBP1 SNORD115-1 NUS1 MED12 CACNA1A GAMT SH2B1 RFC2 GABRG2 KLLN GRIN2D PLXND1 SLC9A6 GTF2I IFNG MEIS2 EXT2 EP300 CLTC ALDH5A1 ANKRD11 SIN3A SNRPN FGFR1 CLIP2 GRIA3 COMT NECAP1 HESX1 ZBTB20 FMR1 SZT2 OPHN1 NHS JMJD1C EHMT1 AARS1 UBA5 TMLHE ARV1 DMPK HIRA YWHAG CREBBP MKRN3 SEC23B PARS2 SIM1 SETD5 AKT1 ARNT2 KCNA2 ALMS1 SNORD116-1 PPP3CA GABRB2 PDE4D CNTNAP2 KDM5C TBL2 OTX2 SDHB GJA8 GABRD DEAF1 PWRN1 KMT2A USF3 PTEN SATB2 FGF12 RPL10 IQSEC2 DHDDS AHDC1 BCKDK SLC35C1 HDAC4 SEC24C GABRA5 PAH MAOA SMAD4 MAN1B1 RAI1 HCN1 NFIB GATM SYNGAP1 HDAC8 ALG13 SDHD HP_AGGRESSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGGRESSIVE_BEHAVIOR DEAF1 C9orf72 SHANK3 KMT2E CAMTA1 NSDHL SLC6A8 CHD2 PIGH PTCHD1 TSC2 NAGS SLC25A13 CHMP2B ARID1B SARS1 EFHC1 TCF4 SASS6 KIF11 RORB SETD2 SLC2A1 ADSL MED13L MED25 PUS7 KMT2A MANBA SLC6A17 JRK ELP2 TMEM231 CLCN2 SH2B1 WARS2 BPTF GABRD USP9X DGCR8 VPS13A UBE2A EEF1A2 CPLX1 ADNP HSD17B10 WDR45 SPAST TRIP12 DYNC1I2 ZMYND11 PRNP TBX1 ANK3 SMARCA2 GCSH LINGO1 MECP2 KDM5C USP7 ESS2 NKAP CTNNB1 BCOR NRXN1 NFASC NAGLU MAPT RUSC2 TIMM50 C12orf4 AFF2 KCNT1 DDX3X MBD5 AP2M1 SPR UQCC2 DGCR6 SYN1 CUX2 GLDC ADAT3 HNRNPH2 HDC TMEM240 WAC CILK1 TBC1D24 TREM2 PUS3 AP1S2 BCAP31 TBP EBP RBBP8 UBTF NONO VCP ENTPD1 MED12 TYROBP GAMT PIGY CUL4B SLC52A2 TRIO PLA2G6 PSMD12 TTC19 CEP152 DNM1 PRRT2 CLCN4 IMPA1 INPP5E PPP2R5D GRN FIG4 SLC6A1 OCRL ATP7B FRMPD4 ALDH5A1 DHCR7 SIN3A CACNB4 GRIA3 LEPR POGZ GABRA1 ZBTB20 FOXP1 ATP13A2 TCF20 EHMT1 KCNQ3 WDR62 DNMT3A SOX5 TTI2 SMC1A DMPK RLIM MYT1L HERC2 ATXN10 SQSTM1 NAA10 PRODH CNTNAP2 DPYD PCDH19 ABCA2 MGAT2 TSC1 PAK3 NDP NDST1 PACS1 DGCR2 TMEM106B PHIP MAN1B1 PSEN1 GABRB3 SATB2 SCN1A KNL1 LINS1 DPAGT1 EIF2S3 MAOA PYCR2 MAPK10 UROC1 ECM1 NFIB AMT MAB21L1 FGF14 SLITRK1 SMARCC2 PAH HP_INAPPROPRIATE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_BEHAVIOR TYROBP C9orf72 SLC18A2 GATAD2B MBD5 MAPT PSAP DYRK1A GALC TREM2 UBE3A CHMP2B PSEN1 SLC9A6 CDKL5 GRN SLC19A3 SLC6A17 PHGDH DCTN1 IQSEC2 GM2A NTNG2 SQSTM1 ATP7B TMEM106B KIF15 PSAT1 ATRX ADSL VCP PRKAR1B GLI3 HP_MOOD_SWINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOOD_SWINGS DEAF1 DGCR8 CUL4B ZFYVE26 ESS2 DGCR6 BPTF PSMD12 TBX1 DGCR2 HP_OBSESSIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_BEHAVIOR PPM1D C9orf72 PANK2 SLITRK1 NKX2-1 LIMK1 RFC2 TTC19 FMR1 CLCN4 ARID1B GTF2I GRN DRD2 DPF2 ELN SCN1A CLIP2 COASY CRKL POGZ GABRG2 NIPBL ADGRV1 XK TCF20 EHMT1 TBX1 HCN1 SCN9A DMPK AUTS2 BCR SETD5 SEMA3E ADNP SQSTM1 STXBP1 CHD7 TRRAP SGCE SMC3 GABRA1 PCDH19 TOR1A GATAD2B TKT GABRD TRIO ALMS1 MED12 MAPT MLXIPL STX1B TBL2 AFF2 YWHAG RAD21 HTR2A TMEM106B KCTD17 PSEN1 SLC6A4 USP7 KMT2A MAPK1 UBE2A HNRNPH2 GCH1 HDC BAZ1B SCN2A SLC35C1 HDAC4 UBE3A TREM2 CHMP2B SLC45A1 OCRL TLK2 SCN1B NR2F1 SMC1A GTF2IRD1 HDAC8 VCP PAH HP_RESTRICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_BEHAVIOR NLGN4X C9orf72 SQSTM1 MECP2 TMEM106B SNRPN TREM2 CHMP2B NLGN3 PSEN1 VCP MAPT GRN HP_PSYCHOTIC_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_EPISODES SLC7A7 NAGS ATP13A2 HMBS PARK7 HP_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMENTIA C9orf72 HNRNPA2B1 DNAJC13 HTT CHCHD10 HNRNPA1 CLN6 FMR1 PSAP ATXN10 TOMM40 GBA ATXN3 PSEN1 ADH1C GBA2 CHMP2B MT-CO1 TREM2 POLG NOTCH3 PLAU MT-TF AARS2 PINK1 VPS13C TBP SYNJ1 MAPT ATXN8OS UCHL1 SNCA FUS TYMP SLC13A5 MT-TC PLA2G6 MATR3 EPM2A C19orf12 PANK2 CP PPP2R2B MT-TK MT-TL1 MT-ND1 MT-ND4 PDGFB RRM2B NR4A2 ERCC8 MPO VPS13A LRRK2 SERPINI1 JPH3 PODXL GIGYF2 ITM2B WDR45 PRNP MT-CO3 MT-TQ DNMT1 SPAST SDHB ABCD1 PSEN2 NPC2 SQSTM1 TRPM7 MT-CYB MT-TV RNF216 HTRA1 COL4A1 CYP27A1 GRN FTL TUBA4A TWNK APP ALDH18A1 MMACHC MBTPS2 TMEM106B ATP13A2 SPG21 ATN1 APTX HEXA ATP6V0A2 PARK7 DGUOK HTRA2 ARSA NOTCH2NLC MT-TS2 ROGDI KCTD7 WFS1 CISD2 VPS35 APOE HFE CLN3 NHLRC1 UBQLN2 PNPLA6 MT-TH VCP SDHD TYROBP ZFYVE26 NPC1 SLC2A3 TARDBP ATP6V1A SDHAF1 CSF1R TTR XPR1 MT-CO2 SDHA SNCAIP SORL1 ATXN2 SCARB2 MT-TW ATP7B GM2A PRDM8 TBK1 PDGFRB PRICKLE1 IRF6 PRKAR1B MT-ATP6 ASAH1 NOS3 A2M CSTB DNAJC5 CTSF CERS1 TUBB4A MT-ND5 RAB39B PRKN MT-ND6 DCTN1 ABCA7 SNCB CUBN FBXO7 ERCC4 HLA-DQB1 NDP TREX1 PRDX1 CFAP43 MT-TE ATP6V1E1 TIMM8A MECP2 EIF4G1 DNM1L ADA2 GBE1 CST3 GLUD2 OPA1 DNAJC6 HP_FRONTAL_LOBE_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_LOBE_DEMENTIA TYROBP TBP TREM2 PINK1 PODXL PARK7 LRRK2 SNCA HTRA2 VPS13C CSF1R CHCHD10 PSEN1 SYNJ1 UCHL1 MAPT PRKN DNAJC6 HP_AUTISTIC_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISTIC_BEHAVIOR SNX14 PPM1D NLGN4X PIGY CAMTA1 TMEM231 SLC6A8 LIMK1 SOX3 CHD2 GJA5 CLCN4 MICOS13 LMAN2L TSC2 STS KCNAB2 SLC13A5 ARID1B SCN8A MT-ND2 TCF4 NUS1 CLP1 ELN CNKSR2 SCN1A DEPDC5 SLC1A2 PWAR1 NLGN3 GABRG2 ATRX ADSL MED13L UCHL1 TMEM138 GNAQ ADGRV1 RAB39B TSC1 DPYD ALDH18A1 ARHGEF6 TBX1 SYNJ1 CDKL5 DYRK1A WWOX CHRNA7 TRAK1 SH2B1 NDUFS3 NDUFV2 IREB2 WDR26 EP300 ARX SPECC1L IL1RAPL1 DLG4 SHANK3 CACNA1C GABRA2 NDUFB11 EGF SLC25A22 ZC3H14 CLIP1 MTOR USP7 PIGQ GATAD2B BCOR CTCF MECP2 CUX2 TIMMDC1 MAPT NDUFAF8 NDUFB10 CACNA1B ANK3 C12orf4 AFF2 NTNG2 RAD21 MCTP2 DDX3X NALCN ARVCF FBXO31 FLCN VPS13C RPS6KA3 MBOAT7 MED25 MID2 RERE KDM6B NDN TBR1 NDUFS6 FOXRED1 TRAPPC9 SKI SDHC HNRNPH2 MED13 TAF1 NDUFAF4 WFS1 MED23 EXT2 TSPAN7 TBX2 JAM2 TMEM216 SRP54 NEXMIF SCN1B ASXL3 EEF1A2 MAGEL2 KCNB1 SMC1A GTF2IRD1 UFD1 STAG1 NDUFS8 NDUFAF3 SNORD115-1 PIGV TMEM126B MED12 TBC1D23 CACNA1A GAMT RARS1 RFC2 DMXL2 SLC9A6 NTRK2 PPP2R5D GRN CC2D2A MEIS2 FOXP1 CLTC IQSEC2 ALG13 FRMPD4 ANKRD11 EXTL3 SIN3A SNRPN CACNA2D2 FGFR1 CLIP2 GRIA3 COMT NECAP1 HESX1 HCN1 SZT2 OPHN1 PIGP NHS JMJD1C TCF20 AARS1 FRRS1L UBA5 NDUFS2 TMLHE NDUFV1 PRSS12 PCGF2 KDM5B DMPK AUTS2 HIRA AP3B2 CARS2 SYT1 YWHAG PGAP1 SRY STAG2 NAA10 CREBBP OTUD6B TRRAP GNAO1 MAN1B1 RAB11B TM4SF20 PRODH UGP2 SEC23B RSRC1 ASH1L PARS2 ZNF41 ST3GAL3 IQSEC1 CXorf56 EHMT1 AKT1 PCDH19 CNNM2 KCNA2 GABRD ZNF711 ALMS1 SYNGAP1 DEAF1 NDUFAF2 SYP SCN9A POMT1 GJA8 GDI1 KCNA1 SETD5 SLC9A7 HECW2 TUSC3 NDUFB3 POLA1 PWRN1 KMT2A AIMP1 AP1S2 PTEN SATB2 FGF12 RPL10 DHDDS GPHN PDE4D AHDC1 EDC3 BCKDK SCN2A SLC35C1 HDAC4 CRBN SEC24C NEUROD2 PAH HIVEP2 ARFGEF2 SLC25A12 GATM NR2F1 SON HDAC8 PGAP2 NDUFS7 SDHD C9orf72 DNM1 RSPRY1 PIK3CA DHCR7 NDUFAF5 PTCHD1 TMEM237 SCN3A STXBP1 CHD1 CRADD SIM1 ACTL6B FTSJ1 MAPK8IP3 CDH15 ALG11 KMT5B UPF3B LINS1 SMG9 MT-ND3 HERC1 GRIN1 LHX1 PIGL ATP6V1A SETD2 NIPBL TUBB3 HCFC1 KCNT1 PRDM16 VAMP2 MEF2C ATP1A3 DYM SNCA TBCK INTS1 RREB1 SLC45A1 SEMA3E ADNP HNF1B PODXL NPAP1 CHD7 NAGA BCORL1 TCF12 SMC3 SLC25A1 ACOX1 AGTPBP1 NDUFS1 GABRA1 CASK CTNNB1 LRRK2 YY1 PRKAR1A DCPS NRXN1 CHD8 PSMD12 ACADL PIGC AP2M1 SARS1 PARK7 CC2D1A HTRA2 BAZ1B PROKR2 KMT2C MT-ND1 CYFIP2 NDUFS4 UBE3A TREM2 NDP TRIM8 SOX2 FOXP2 HERC2 TLK2 GP1BB REV3L UBTF NONO EZR VCP ZNF423 MSTO1 ACSL4 NSUN2 TNIK PINK1 TET3 KLLN GRIN2D PLXND1 CDK8 ZIC1 GRIK2 GTF2I IFNG SLC6A1 USP27X FMN2 ALDH5A1 THOC2 RORA POGZ COG5 ZBTB20 FMR1 NDUFA6 PIGO RPS23 ARV1 AGTR2 PACS2 PUF60 SLC35A3 FOXG1 PAK3 SQSTM1 TWNK CEP290 MKRN3 NDUFA1 TBC1D24 NDUFA11 SYN1 CNTNAP2 PRKN PACS1 ARNT2 PNKP B3GALNT2 NDST1 SNORD116-1 DOCK7 NDUFAF1 PPP3CA DLG3 GFM1 GABRB2 PPP2CA HNMT TRIO KDM5C SIK1 METTL23 WASHC4 STX1B TBL2 OTX2 RNF135 SDHB ZFPM2 PIGW DMD TMEM106B PSEN1 GABRB3 USF3 NDUFB9 NDUFA13 GABRA5 CHMP2B MAOA NAA15 TECR SMAD4 MAPK10 USP9X RAI1 NFIB KPTN PGAP3 PIGG SPATA5 ZNF81 DNAJC6 NUBPL HP_STEREOTYPY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPY NLGN4X C9orf72 NSUN2 RAC1 CERT1 SHANK3 TNIK CTBP1 SLC6A8 MBD5 TRIO RPE65 MAPT NTRK2 RTTN LMAN2L TSC2 KCNAB2 CHD1 SLC1A4 SYT1 CHMP2B SLC9A6 CRADD GRIK2 SCN8A FOXG1 PPP2R5D GRN TARDBP FOXP1 OCRL EP300 IQSEC2 NSD2 FMN2 NAT8L LINS1 EXTL3 KIF15 DEAF1 THOC2 BRAF NLGN3 POGZ GABRA1 RAI1 TUBB3 AP4S1 PRDM16 VAMP2 FGFRL1 MEF2C EHMT1 TBX1 FRRS1L CDKL5 ELP2 SOX5 TTI2 DYRK1A CACNA1H PRSS12 SMC1A PRRT2 AP4B1 KDM5B AUTS2 SLC45A1 HERC2 AP4M1 SIK1 PGAP1 SQSTM1 CPLX1 WDR26 CREBBP NACC1 MAN1B1 RAB11B JRK PRODH RSRC1 GABRB3 BCORL1 ST3GAL3 IQSEC1 EBF3 CNTNAP2 KMT2A ZC3H14 CLIP1 FLII NEXMIF MECP2 NPC2 TKT B3GALNT2 NDST1 RERE DOCK7 DCPS NRXN1 RAB39B AP4E1 MGAT2 GABRG2 HNMT DNAJC19 CHAMP1 TSC1 METTL23 GUCY2D WASHC4 GRIN2A AFF2 NTNG2 PIGC TMEM106B FBXO31 FLCN MED25 SNRPN NAA10 GABRD HECW2 TUSC3 TBCD SARS1 PSEN1 AIMP1 MBOAT7 TRAPPC9 SKI ATRX TRAPPC6B CC2D1A KYNU TBR1 EDC3 CHD3 HDAC4 CRBN TREM2 NDP MED23 EXT2 ALKBH8 TECR C12orf4 SLC2A1 KPTN ASXL3 NR2F1 EZR SPATA5 LARP7 LETM1 VCP NAGS PUF60 ARID2 TBC1D23 ADNP HP_DISINHIBITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISINHIBITION TYROBP TARDBP C9orf72 NSUN2 TREM2 DNM1 DNMT1 TNIK PINK1 DNAJC13 CHD2 PTCHD1 SNCA CHCHD10 MAPT CEP152 LMAN2L GABRG2 TSC2 SCN3A GRIN2D ADAT3 TOMM40 GBA PSEN1 SLC13A5 CHMP2B CRADD GRIK2 SORL1 LRRK2 GRN ACTL6B SLC6A1 EP300 CLTC TBK1 CNKSR2 FMN2 LINS1 SLC1A2 ATP6V1A NECAP1 SYNJ1 UCHL1 SZT2 FUS VANGL1 SCN8A AARS1 FRRS1L C19orf12 WDR62 UBA5 WWOX PRSS12 ARV1 KDM5B TRAK1 KANSL1 SLC45A1 YWHAG VPS13A PGAP1 NTRK2 SQSTM1 PODXL STXBP1 GIGYF2 CREBBP MAN1B1 SPAST RSRC1 PARS2 ST3GAL3 IQSEC1 GABRA2 ZC3H14 CLIP1 PRKN GCSH GABRA1 PSEN2 PCDH19 FUZ KCNA2 B3GALNT2 NDST1 ABCA7 DCPS APP PPP3CA GABRB2 HNMT CACNA1B TSC1 METTL23 WASHC4 SCN9A AFF2 FTL FMR1 PIGC TMEM106B PHIP AP2M1 FBXO31 VPS13C MED25 TUSC3 SARS1 USP7 VCP AIMP1 KNL1 MBOAT7 GLDC FGF12 TRAPPC9 DHDDS PARK7 CC2D1A HTRA2 TMEM240 EDC3 CYFIP2 CRBN GABRA5 MED23 HIVEP2 VPS35 MAGEL2 MAOA TECR IL1RAPL1 SCN1A EIF4G1 C12orf4 HCN1 AMT PLA2G6 AP3B2 EEF1A2 KCNB1 UBTF PANK2 SCN2A EZR SYNGAP1 SCN1B NUS1 DNAJC6 CACNA1A HP_IMPAIRED_SOCIAL_INTERACTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SOCIAL_INTERACTIONS NLGN4X SHANK3 RARS1 PINK1 SLC6A8 TET3 NDUFAF5 MICOS13 NTRK2 MT-ND2 NDUFAF3 CLP1 ALG11 IQSEC2 ALG13 FRMPD4 EXTL3 SMG9 MT-ND3 HERC1 GRIN1 CACNA2D2 NLGN3 SYNJ1 ADSL UCHL1 FMR1 NDUFA6 TUBB3 KCNT1 GRIA3 NEUROD2 SNCA CDKL5 MEF2C NDUFS2 NDUFV1 SH2B1 NDUFS3 NDUFV2 PUF60 AP3B2 IREB2 SYT1 NDUFS4 FOXG1 ADNP TWNK PODXL RAB11B NDUFA1 UGP2 NDUFA11 SLC25A1 CNTNAP2 NDUFB11 ACOX1 AGTPBP1 NDUFS1 PRKN PIGP LRRK2 DOCK7 NRXN1 NDUFAF1 MECP2 GFM1 CUX2 TIMMDC1 NDUFAF8 NDUFB10 DEAF1 NDUFAF2 NALCN FLCN VPS13C SNRPN NDUFB3 POLA1 NDUFS6 NDUFB9 ST3GAL3 FOXRED1 NDUFA13 PARK7 GPHN TBR1 HTRA2 MT-ND1 NDUFAF4 ARFGEF2 UBA5 NEXMIF SLC25A12 SPATA5 NDUFS7 NDUFS8 TMEM126B MED12 TBC1D23 DNAJC6 NUBPL HP_SHORT_ATTENTION_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_ATTENTION_SPAN PPM1D DRD4 DNM1 NKX2-1 DHCR7 SLC6A8 LIMK1 PTCHD1 CLCN4 PNKP LMAN2L TSC2 SCN3A STS PSAP DHTKD1 STAG2 SLC13A5 CRADD PMS2 SIM1 ACTL6B LHCGR FTSJ1 EPCAM HOXA2 KIF11 ELN MT-TF CNKSR2 UPF3B GABRG2 NAT8L LINS1 DRD5 SLC1A2 PWAR1 CLTC SETBP1 ATP6V1A SYNJ1 UCHL1 NIPBL GNAQ GNE RAI1 TUBB3 RAB39B HCFC1 TSC1 SCN8A FGFR3 ARHGEF6 TBX1 DYM SNCA HSPG2 MED12 CACNA1H WWOX MT-ND1 MT-ND4 CHRNA7 MLH3 GNB5 TRAK1 CXorf56 MSH2 GALC RREB1 AUH SLC45A1 SEMA3E CPLX1 ADNP NTRK2 PODXL NPAP1 CHD7 PRNP MT-TQ ARX CRBN ABCD1 BCORL1 SPRED1 TMCO1 IL1RAPL1 DYNC1I2 SMC3 GABRA2 KMT2A ZC3H14 CLIP1 GABRA1 SH3KBP1 FGD1 NKAP PIEZO2 LRRK2 IGF1 YY1 DCPS FLI1 MAN2B1 RSRC1 MLXIPL CACNA1B TGFBR2 MT-CO3 C12orf4 SMPD1 YWHAG RAD21 PIGC MCTP2 MBD5 ARVCF FBXO31 VPS13C RPS6KA3 MED25 MID2 RERE SARS1 NDN IKBKG MAPK1 MBOAT7 GLUD1 TRAPPC9 FBXO11 IQSEC2 SEMA4A PARK7 CC2D1A ASPM HTRA2 HDC BAZ1B ARSA MED13 MT-TS2 TAF1 WAC CYFIP2 UBE3A TBC1D24 NDP MED23 TSPAN7 SIN3A ALKBH8 MECP2 OCRL GLRX5 HERC2 ZDHHC9 TLK2 DPP6 AP3B2 EEF1A2 MAGEL2 GP1BB KCNB1 SMC1A EZR GTF2IRD1 PIK3CA UFD1 RIC1 STXBP1 MT-TH FAN1 SNORD115-1 NUS1 CACNA1A AASS ACSL4 PIGY NSUN2 TNIK SH2B1 PINK1 GRIN2A TET3 RFC2 PCNT GRIN2D LIG4 PANK2 CDK8 GRIK2 GTF2I PRKCG IFNG BMPR1A FOXP1 EP300 USP27X SOBP FMN2 ATP13A2 KIF14 DEAF1 SRPX2 SPG7 SNRPN CLIP2 CRKL COMT NECAP1 SZT2 PRKAR1B OPHN1 JMJD1C AARS1 FRRS1L FMR1 UBA5 SOX5 VPS13A NOP56 PRSS12 ARV1 PCGF2 ALG13 KDM5B AGTR2 DMPK AUTS2 HIRA BCR PAK3 MT-CO1 GRIA4 PGAP1 MSH6 PMS1 CREBBP MT-TW MKRN3 MAN1B1 JRK MT-ND5 GABRB3 PARS2 ZNF41 ST3GAL3 IQSEC1 MLH1 DPH1 PRKN FLII SETD5 MT-ND6 CIC FRMPD4 PCDH19 KRAS KCNA2 TKT ZNF711 TRIO B3GALNT2 NDST1 SNORD116-1 PPP3CA DLG3 GABRB2 AHCY HNMT GATA4 SYP METTL23 WASHC4 TBL2 SCN9A CSNK2A1 GDI1 DMD SLC9A7 PHIP TUSC3 POLA1 PWRN1 RPS20 USP7 AIMP1 TUBB2B MAP11 SATB2 MT-CO2 FGF12 DNAJC12 DHDDS EDC3 HDAC4 TIMM8A SEC24C GABRA5 PAH THRB TECR SCN1A ARF1 USP9X NBN HCN1 SLC2A1 PLA2G6 NR2F1 SCN2A MT-TL1 SYNGAP1 HDAC8 SCN1B SLITRK1 ARID2 ZNF81 DNAJC6 HP_IRRITABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRRITABILITY C9orf72 TREM2 DNMT1 IL12A SLC1A4 PRF1 NSDHL HTT SDHAF1 MAPT SUCLA2 HLCS SLC46A1 PRRT2 TK2 PSEN1 SLC25A13 SDHA PMS2 GRN CPS1 BMPR1A EPCAM GCDH MEFV IL12A-AS1 ITPA OTC SLC39A4 IL10 ASAH1 SLC2A1 SLC1A2 SLC25A19 STAT4 ST3GAL5 IL23R ERAP1 HSPG2 IBA57 CLN8 VDR TTI2 CCR1 NFIX SLC25A20 MLH3 MSH2 GALC SLC6A3 ADAR ARG1 COG4 KLRC4 IFIH1 ATP5F1A FOXG1 TMEM237 HIBCH GRIA4 PHGDH CPLX1 JPH3 CLP1 SAMHD1 SQSTM1 MSH6 NAXD PMS1 NACC1 PRNP SMARCB1 SDHB SLC19A3 CYP27B1 SLC25A1 ACOX1 TCN2 MLH1 GCSH MECP2 EHMT1 VPS53 TH HLA-B KRAS FBP1 PTS GNAS GCH1 GYS2 ASPA STX16 PPT1 HLA-DQB1 AVP TGFBR2 ASL NDUFS1 AVPR2 TREX1 SEPSECS NHLRC2 C4A RNASEH2C ALPL TMEM106B UBAC2 RPS20 ST3GAL3 GLDC PYGL RNASEH2A SEMA4A CPOX PSAP NTRK1 TBC1D24 NDP CHMP2B AQP2 ABCC8 MT-ATP6 CACNA1A RNASEH2B CYP2R1 PYCR2 UBA5 TP53 GLRX5 ASS1 QDPR AMT TLR4 PANK2 PIK3CA VCP SDHD FAN1 DDC FAS TYROBP NDUFAF4 PAH SLC16A2 AIFM1 HP_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALLUCINATIONS MAPT TARDBP ARSG DRD3 PINK1 DNAJC13 BCKDHB SNCA PSMD12 CHCHD10 TTC19 CLN6 TNFSF4 PSAP CPOX TOMM40 GBA ADH1C SLC25A13 HLA-DRB1 CHI3L1 DAOA SNCAIP SORL1 LRRK2 PMS2 TREM2 BMPR1A ATXN2 EPCAM FIG4 PRDM8 TBK1 CACNA1A UPF3B SLC6A19 ATP13A2 CLRN1 ALDH5A1 COMT PSEN1 TBP HTR2A SYNJ1 ATXN8OS UCHL1 DBT HCRT FUS EPM2A MED12 ARSA NHLRC1 MLH3 MSH2 CEP78 PPOX BPTF HLA-DQB1 APOL2 NR4A2 MYO7A MTHFR KCNQ3 DNAJC5 SPART JPH3 USH2A SCN2A MSH6 PODXL WFS1 GIGYF2 PMS1 PRNP USH1C C9orf72 MAN2B1 WHRN MOG MLH1 PRKN DNAJC6 PSEN2 CYP27A1 KRAS ZNF365 ABCA7 APP SNCB PDZD7 PPT1 FBXO7 TGFBR2 NDP CIB2 BCS1L HMBS VPS13C SCN8A RPS20 SQSTM1 ESPN VCP P2RY11 SYN2 SEMA4A PARK7 HTRA2 KCNQ2 CISD2 VPS35 PUS3 BCKDHA EIF4G1 DCAF17 CDH23 PRRT2 ZDHHC9 ECM1 PCDH15 DNM1L RTN4R USH1G ADGRV1 GRN SON HARS1 PIK3CA APOL4 MT-TS2 FAN1 CTSH GLUD2 OPA1 HP_SELF_MUTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_MUTILATION DPYD GRIA3 GATAD2B SLC6A8 BCOR HDC SLC6A17 TMEM231 MGAT2 RAI1 INPP5E TRIO SYT1 HERC2 VPS13A EP300 NAA10 NTRK1 CREBBP NAT8L DHCR7 THOC2 NDE1 LARP7 TMCO1 ADSL SLITRK1 CLTCL1 PAH HP_LOW_FRUSTRATION_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_FRUSTRATION_TOLERANCE KDM5C DNAJC13 GATAD2B GIGYF2 SNCA SMC1A GBA VPS35 MAOA LRRK2 KMT2A PPP2R5D MED12 PUF60 EIF4G1 HP_DIMINISHED_MOTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOTIVATION TARDBP C9orf72 EHMT1 DNMT1 COQ2 PINK1 DNAJC13 LRRK2 DCTN1 SNCA CHCHD10 MAPT SQSTM1 GRN HMGCL FMR1 GBA PSEN1 PRNP CHMP2B HLA-DQB1 GM2A TBK1 ATP13A2 TMEM106B VPS13C SYNJ1 UCHL1 VCP PRKAR1B ATXN1 FUS HEXA PARK7 HTRA2 TMEM240 TREM2 PDGFB VPS35 CACNA1A EIF4G1 JPH3 ATXN10 PODXL GIGYF2 SMARCB1 PANK2 ACAT1 SPAST SPG21 PRKN DNAJC6 HP_DELUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELUSIONS DRD3 ESS2 EIF2B3 EIF2B4 SNCA PSAP CPOX SNCB MAN2B1 SLC25A13 PRNP CHI3L1 DAOA HLA-DQB1 IMPA1 CYP27A1 PRDM8 PPP2R2B EIF2B1 DGCR2 COMT HTR2A ARSA DGCR6 PLA2G6 SYN2 TIMM8A EIF2B5 GBA DMPK APOL2 EIF2B2 MTHFR TBP DGCR8 JPH3 ECM1 RTN4R C9orf72 APOL4 TBX1 HP_INAPPROPRIATE_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_LAUGHTER SLC6A17 NTNG2 GATAD2B MBD5 MAPT DYRK1A ATRX UBE3A PSEN1 ADSL SLC9A6 CDKL5 GLI3 HP_PAROXYSMAL_BURSTS_OF_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER ATRX UBE3A NTNG2 MBD5 GLI3 HP_DELAYED_SPEECH_AND_LANGUAGE_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_SPEECH_AND_LANGUAGE_DEVELOPMENT GNB1 VPS11 CAMTA1 SLC1A4 SLC6A8 CLCN4 LMAN2L IFT172 FRMD4A POMGNT2 KCNAB2 SLC13A5 ARID1B TCF4 DNAH1 CLP1 CRAT NLGN3 ADSL SETBP1 SLC1A2 MED25 SLC2A1 CBL SCN8A CHMP1A NSD1 ERMARD ARHGEF6 KMT2A SF3B4 WWOX NFIX DHDDS SH2B1 AUH BPTF NCAPG2 SEC23A IREB2 GAS8 EEF1A2 NUP62 CCDC174 FGFR1 ARX SDHB ORC6 HNMT DYNC1I2 ZMYND11 ZC3H14 RAI1 ATP6AP2 KCNH1 XRCC4 CAMK2B MECP2 CACNA1B ALDH18A1 TIMM50 C12orf4 AFF2 AGA NEDD4L SERAC1 CASK PURA FLCN RPS6KA3 KDM1A PLP1 ATP5F1D TRAPPC11 MTPAP TRAPPC9 FBXO11 RFC1 GEMIN4 WDR45B NECTIN1 TBR1 CHD3 TAF1 TPP1 MED23 TENT5A FBXL3 MFSD8 MYO9A DNAAF4 LRP5 ZSWIM6 ACTL6B ERCC2 NEXMIF MAGEL2 KCNB1 COG8 SDHD SNORD115-1 AP4B1 HACE1 MRE11 PIGY RAC1 SMARCD1 TRIO FOXJ1 NTRK2 TUBB4A MACF1 SLC9A6 PPP2R5D DPF2 EP300 CLTC DNAL1 ANKRD11 EXTL3 DEAF1 CTBP1 SIN3A SNRPN FOXP2 HCN1 TBC1D7 RSPH9 EFTUD2 FRRS1L MCM3AP UBA5 SOX5 TAF2 ATP6V0A2 KDM5B SMAD6 GNAO1 MRPS34 TBCK IQSEC2 CARS2 RNF125 UQCRQ PGAP1 CREBBP OTUD6B TMEM94 MN1 MAN1B1 UGP2 PARS2 ACADM ZNF41 IQSEC1 FKTN COG6 EZH2 DNAJB13 C8orf37 ASPA MED12 ERLIN2 ACOX2 PPP2R1A PRKRA CHAMP1 SYP PACS1 POMT1 TANGO2 BTK KIDINS220 SLC9A7 KIAA1109 NEK1 PWRN1 SRPX2 PBX1 USP7 HUWE1 BRAT1 CCNO FGF12 RPL10 XYLT1 CRBN KCNA2 HIVEP2 EIF2S3 IGF1R THRB LRRC56 DLX4 GRHL3 BCL11B GATM NR2F1 PMM2 CWF19L1 DNMT3A GABBR2 THOC6 SLC33A1 ARMC9 GNB5 TRIT1 ITPR1 AIFM1 DNM1 KMT2E NSDHL TUBB MCIDAS SCN3A STRADA NF1 NGLY1 PPP1CB BRCA1 CCDC28B GRIN1 QRICH1 CFAP221 AMER1 SPATA5 TUBB3 HCFC1 PRDM16 STK36 MEF2C FTSJ1 WASF1 MSTO1 GMNN VAC14 OFD1 HNRNPU COG4 TWIST2 SLC45A1 NME8 LAMA1 UBE3B LAGE3 PIGG NACC1 CFAP298 RSPRY1 PNPT1 BCORL1 TMCO1 DCPS PIGP COG1 ADAR UBE3A EED CCDC39 ARMC4 VPS37A PSMD12 ACADL PIGW CNKSR2 BRWD3 WDR45 CYFIP2 GRM1 RYR1 HS6ST2 TOE1 ATXN3 TRAPPC2L PIGO PCYT2 EXOSC2 EARS2 TLK2 TBX4 RHOBTB2 UBTF TSHR NONO COA8 GRIN2D TPRN DLG1 FLNA PTCHD1 ACSL4 TNIK SLC16A2 TET3 PGAP2 BSCL2 COL3A1 ADAT3 ZNF711 CCDC151 EXT2 WDR34 KYNU FMN2 KIF15 GRIN2A GNPTAB WDR26 CACNA1E PTS RTTN SPARC CDK13 TMEM106B HOXB1 PRPS1 PIGV STXBP1 ERF SMC1A ALG13 RLIM PACS2 PUF60 ACSF3 PAK3 SPART PRKD1 CDC42 TBL1XR1 RUBCN CNTNAP2 GMPPB FLII HIKESHI FRMPD4 KCNA4 CCDC40 B3GALNT2 NDST1 SNORD116-1 PHKG2 BBS1 TINF2 BMPR1B PPP2CA PRNP ASXL2 KDM5C ATP6V1A CTCF UBB TTC25 DMD GABRD ADK TBCD GRIN2B MTFMT RSPH3 CDK10 ATP6V1E1 CSPP1 PHKA2 ATRX HYDIN KCNA1 GABRA5 KCNJ10 NAA15 TECR CUL4B IFIH1 GALE MCOLN1 RNASET2 PLAA IRF6 CLIC2 ZNF81 OSGEP NCAPD2 DNAH11 SNX14 PPM1D SMS RSPH1 CCDC47 SPAG1 KLHL15 FOXG1 NLGN4X ARL6 NUS1 STAG1 NXN DPM2 PWAR1 CPLX1 MED13L UGT1A1 MRPS14 RAB39B DNAAF1 TH DPYD TBX1 NRAS DNAH9 C19orf12 SYNJ1 SLC6A17 CP ELP2 ALG11 DYRK1A UFM1 RSPH4A CEP63 TRAK1 PPP3CA KANSL1 SLC17A5 TELO2 KIF1A HMGA2 HSD17B10 DAG1 CCDC65 TRIP12 IL1RAPL1 RARS2 DENND5A SHANK3 GABRA2 CLIP1 SMARCA2 TMTC3 SRCAP WDR4 ZC4H2 PEX1 SFXN4 MAN2B1 LIPT2 UFC1 L1CAM ANK3 NTNG2 UNC80 MCTP2 PIGN FBXO31 GFM2 MBOAT7 MID2 KIAA0586 NDN LRPPRC SKI ASPM HNRNPH2 MED13 GAMT FIBP DNAAF6 PUS3 TSPAN7 DHX30 KAT6A CCDC103 C2CD3 LEMD3 HERC1 FARS2 ASXL3 SPTBN4 TBC1D23 CACNA1A CRADD VLDLR DARS2 GPT2 SDHAF1 GABRG2 MYRF MEIS2 GABRB2 FOXP1 RAB3GAP2 LNPK GORAB NECAP1 KCNQ5 PMPCA KCNMA1 SZT2 ISCA2 FBLN1 ST3GAL5 TCF20 GRIA3 ZBTB18 AARS1 WDR62 TMLHE TTI2 PRSS12 AUTS2 USP27X CHKB AP3B2 SETD5 SYT1 YWHAG TRRAP RAB11B PRODH RSRC1 ASH1L PIK3R1 ST3GAL3 EMC1 DNAI1 ZEB2 TCTN2 NUP107 MFF MT-ATP6 CSNK2A1 LTBP4 GDI1 PYCR2 PCDH19 TTN TUSC3 CDH1 AIMP1 LRRC6 SATB2 DNAAF5 DNAJC12 PDE4D AHDC1 INTU EDC3 GLS NSUN2 BMP4 SLC25A12 DNAAF3 SYNGAP1 MFSD2A SMARCC2 NALCN TRMT1 ARID1A ALDH7A1 DLG3 DHTKD1 STAG2 CTNNA2 PGK1 SHROOM4 HOXA2 KMT5B RORB UPF3B LINS1 PYCR1 SETD2 WIPI2 RPGR YY1 GNS TMEM231 NFE2L2 CXorf56 WARS2 INTS1 SPEG SIK1 ADNP NPAP1 HTT TP53RK PHF8 CFAP300 LINGO1 SGCB MDH2 SPEF2 AIMP2 NIPBL RERE SELENOI PRKAR1A NRXN1 ZMYND10 GPAA1 CLN8 RUSC2 INPP5E KIF5C CNNM2 PIGC TRAF7 DNAI2 PAK1 PIGA CAMK2A SARS1 NEK10 PMPCB PRMT7 LIG4 YME1L1 EXOSC3 CC2D1A KMT2C WAC DPYS TP63 REPS1 HERC2 EZR RMND1 PUM1 TRIP4 ARHGAP29 AASS VPS33A MBD5 CCDC88A GNE ACADS SDHA GAS2L2 GRIK2 LMX1B LAS1L DEGS1 TRPV6 SOBP ALDH5A1 THOC2 OPHN1 SPTBN2 RORA POGZ SPR COG5 EHMT1 ARV1 ATAD3A DNAH5 TENM3 AGTR2 SLC6A3 MYT1L TKFC CCND2 TTC12 GRIA4 MKRN3 BRPF1 BIN1 KAT6B EBF3 MPDU1 SIM1 GOT2 SET SMARCE1 MAPRE2 METTL23 WASHC4 DNAAF2 DRC1 MSX1 MAP11 KNL1 USP9X CWC27 ZNF142 CCDC114 TKT ARF1 ACAD8 SLC25A42 KPTN PLA2G6 WDR73 ARID2 WDR81 TUBA8 HP_PERSONALITY_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_CHANGES MAPT TYROBP C9orf72 MT-ND6 TREM2 RNF216 EIF2B3 PLA2G6 DCTN1 LMNB1 SQSTM1 EIF2B4 PSEN1 ADH1C PRNP CHMP2B HLA-DQB1 VCP SNCAIP GRN ATXN2 MT-CO3 ATP7B MT-TF EIF2B1 TMEM106B TBP ATXN8OS MT-CO2 GBA MT-TS2 TIMM8A TBK1 EIF2B5 MT-ND1 MT-ND4 NR4A2 EIF2B2 HTT VPS13A MT-CO1 MT-TW MT-TQ MT-ND5 MT-TL1 JPH3 PNPLA6 MT-TH GLUD2 HP_HYPERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVITY PPM1D DRD4 NKX2-1 SLC1A4 SLC6A8 LIMK1 HTT CLCN4 LMAN2L TSC2 STS SGSH SLC13A5 EPCAM KIF11 ELN CNKSR2 UPF3B GABRG2 GABRB3 DRD5 SLC1A2 PWAR1 CLTC ATR ADSL MED13L SETBP1 CHD2 PNP GNAQ RAB39B TSC1 SCN8A FGFR3 PUS7 DPYD ARHGEF6 TBX1 SYNJ1 DYRK1A WWOX NFIX CHRNA7 MLH3 GNB5 TRAK1 MSH2 KANSL1 SHOC2 EP300 ARX TRIP12 IL1RAPL1 DYNC1I2 SHANK3 GABRA2 KMT2A SLC25A22 ZC3H14 CLIP1 RAI1 ANK3 MTOR PIGQ FGD1 GATAD2B PIEZO2 FLI1 CACNA1B C12orf4 AFF2 YWHAG NTNG2 RAD21 MCTP2 HGSNAT DDX3X ARVCF FBXO31 FLCN RPS6KA3 MED25 MID2 ATRX RERE UQCC2 KDM6B NDN MAPK1 CUX2 MBOAT7 TRAPPC9 FBXO11 IQSEC2 ASPM HDC MED13 TAF1 MED23 TSPAN7 ALKBH8 BCAP31 OCRL ZSWIM6 EBP NEXMIF DPP6 EEF1A2 PNKP MAGEL2 KCNB1 SMC1A GTF2IRD1 UFD1 SNORD115-1 MED12 CACNA1A GAMT PIGY SH2B1 RFC2 DMXL2 CORO1A PRKCG FOXP1 DPF2 NSDHL FRMPD4 KIF14 DEAF1 SPG7 CC2D1A SIN3A SNRPN CLIP2 LNPK COMT NECAP1 GABRA1 SZT2 OPHN1 PIGP JMJD1C TCF20 AARS1 FRRS1L WDR62 UBA5 SOX5 TTI2 NOP56 PRSS12 PCGF2 TSHR KDM5B AUTS2 HIRA BCR PGAP1 STAG2 NSUN2 MSH6 PMS1 CREBBP GNAO1 MAN1B1 PRODH DNAJC21 RSRC1 ASH1L PARS2 ZNF41 ST3GAL3 IQSEC1 CXorf56 CIC KCNA2 ZNF711 TRIO KCNK9 PPP2R1A GATA4 SYP CSNK2A1 GDI1 KCNA1 NTRK1 SETD5 SLC9A7 PCDH19 CDKL5 TUSC3 POLA1 PWRN1 RPS20 USP7 HUWE1 AIMP1 TUBB2B SATB2 FGF12 DNAJC12 DHDDS PDE4D EDC3 HDAC4 TIMM8A CRBN SEC24C NEUROD2 PAH HIVEP2 THRB NBN HCN1 SLC2A1 NR2F1 SYNGAP1 HDAC8 SLITRK1 SMARCC2 DNM1 DHCR7 PTCHD1 SCN3A STXBP1 DHTKD1 SLC25A13 CRADD PMS2 KRAS SIM1 ACTL6B LHCGR SHROOM4 FTSJ1 HOXA2 LINS1 ATP6V1A NIPBL GNE HCFC1 DYM HSPG2 MANBA GNS CACNA1H GALC BSCL2 RREB1 SLC45A1 SEMA3E CPLX1 ADNP NTRK2 ATP1A1 NPAP1 CHD7 SCN2A ABCD1 BCORL1 SPRED1 TMCO1 SMC3 HAL GCSH SH3KBP1 CASK MECP2 NKAP IGF1 YY1 PRKAR1A DCPS NRXN1 UBE3A NAGLU MLXIPL TGFBR2 RUSC2 SMPD1 PSMD12 PIGC SPR SARS1 IKBKG YME1L1 GLDC GLUD1 ADAT3 SEMA4A BAZ1B WAC CYFIP2 TBC1D24 CCBE1 NDP TRIM8 HERC2 ZDHHC9 TLK2 AP3B2 GP1BB UBTF EZR PIK3CA RIC1 FAN1 NUS1 AASS ACSL4 CUL4B PANK2 TNIK MBD5 GRIN2A TET3 PCNT GRIN2D LIG4 CDK8 GRIK2 GTF2I INPP5E IFNG BMPR1A USP27X APC2 FMN2 ALDH5A1 KIF15 SRPX2 CRKL POGZ FMR1 PTCH1 TAF6 VPS13A ARV1 ALG13 AGTR2 ARG1 PUF60 PAK3 GRIA4 MKRN3 JRK CNTNAP2 MLH1 DPH1 FLII TKT B3GALNT2 NDST1 SNORD116-1 PPP3CA DLG3 GABRB2 HNMT SIK1 METTL23 WASHC4 TBL2 ACY1 DMD PHIP MAP11 SCN1A GABRA5 CAMTA1 PRNP TECR MAPK10 ARF1 USP9X AMT PLA2G6 SCN1B ARID2 ZNF81 HP_LACK_OF_INSIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_INSIGHT TYROBP TBP C9orf72 TREM2 CHMP2B PSEN1 VCP SQSTM1 MAPT TMEM106B GRN HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY SGCD KCNJ1 TCIRG1 EDN3 CLCN4 NEB ELP1 TSC2 FMR1 PMP22 GNB4 REEP2 ARHGEF10 COMP DMXL2 EPCAM POLG NF1 NEFL SPTBN2 PNPLA6 ERCC3 MEFV MAG ADCY6 GABRG2 CD59 CTLA4 KCNJ11 SOST SACS CRAT COASY TPI1 SLC2A1 NDUFS7 MAPT WASHC5 TK2 EGR2 SIX1 SLC52A3 TYMP SALL4 OPA3 CHD7 ARHGEF6 GNA11 MTRR HLA-DRB1 DNA2 CHMP2B CCR1 TRPV4 MT-ND4 TPM2 MLH3 GFPT1 MSH2 POLG2 KCNQ3 AGRN MYD88 AK9 MEGF10 VPS13A KIF1A TWNK COL3A1 SIGMAR1 COLQ ARX AP1B1 AKT1 HLA-DQB1 GAN TTPA HRAS RPIA RNF113A RAI1 TFAP2A SEMA3E XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 MT-TW PHYH INSR ALDH18A1 KIF5A TREX1 RAD21 DAXX C4A NALCN MT-CYB RPS6KA3 SCN8A LRP12 VRK1 ARSA SQSTM1 CLCN7 MME RET GLA DSE ARSB IGHMBP2 LYST NDUFV1 PNKP RFC1 RAB18 COA7 SLC25A11 AP1S1 SLC18A3 TBC1D20 WFS1 ASCL1 ABCC8 GMPPB MPL OPA1 ABHD12 MTMR2 LDB3 MTTP SDHA DGUOK ATXN8OS SUFU ERCC4 AGPAT2 FAM126A ATAD3A JPH1 MICU1 HSD17B4 MAGEL2 ANKH HSD3B7 GNE MYH14 NF2 PMM2 UBQLN2 MT-ND5 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 HACE1 COCH MRE11 TARDBP TGM1 DNMT1 SDHD PSAP TTC19 SNX10 ERCC6 SPG11 SMO WIPF1 DLST SELENOI ACTA1 PRKCG ATP7B DLL4 AIFM1 PLD3 SUMF1 BAP1 SDHB DEAF1 SPG7 SLC25A19 SNRPN CYP2U1 GALC CHRNB1 PDE4D PHF6 GCK ERCC2 PEX5 KLC2 WAS PEX11B C19orf12 PIK3R5 IL23R PLEKHM1 MT-ATP6 ERAP1 MAFB GJC2 MCM3AP ATP13A2 APC DMPK ADAR PEX19 IQSEC2 DKK1 RETREG1 IFIH1 PLA2G6 MSH6 CEP126 PMS1 COL6A1 SLC25A1 HBB ZNF41 LRP5 MEN1 TPM3 DNAJB6 MDH2 GSN MT-ND6 SDHAF2 TBC1D24 RRM2B RNF43 DNMT3A PPOX HLA-B GARS1 LMNB1 MT-ND4L KCNK9 DDB2 ATXN7 FKRP FKTN CHAMP1 C11orf95 SYP HINT1 NDUFA10 MT-TL1 KCNC3 ABCA1 MT-ND3 MPZ MYPN TGFB1 FUS SLC9A7 CCT5 CHRND SMN1 SLC12A1 SBF2 MTFMT MEOX1 SOX10 FA2H PWRN1 RPS20 KMT2A NOTCH3 KCNQ1OT1 AGXT NDUFAF3 TREM2 NIPA1 NDUFA4 TIMM8A TNFRSF11A MT-ND2 MAT1A FBLN5 GJB1 PRKAR1A LRP4 AP5Z1 FLVCR1 PEX10 DNM1L KIF1B AMACR RTN2 FBXO38 CDKN2B MED12 HDAC8 FGF14 TUBB6 SDHC DCTN1 TRIM32 PLEC ALAD OSTM1 COL13A1 RAB3GAP1 KLHL41 SNAP29 KARS1 SH3TC2 CHRNA1 CHCHD10 VHL ATXN10 NDUFB8 GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 BEAN1 UBTF MT-TF ERCC5 ATRX NDUFA13 ERLIN2 SLCO2A1 PHOX2B AMER1 GCDH HCFC1 MYOT CDKN1B ERCC1 LZTR1 GNA14 DHH MSTO1 MANBA MT-CO3 HARS1 ATP1A1 ANO5 PIK3CA PPP2R2B IBA57 GCLC MYF6 MFN2 CBLIF MT-ND1 DCAF8 GDNF SBF1 LMNA PEX7 XRCC1 SPAST ABCD1 PEX3 NAGA RAB7A PNPT1 BTNL2 TRIM2 ADPRS PDCD1 BDNF FIG4 SLC12A6 NFASC MUSK TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 FXN VPS37A SMPD1 CNTNAP1 HADHA PLEKHG4 CNKSR2 NEU1 PDYN DDHD1 SCN9A BIN1 RYR1 LIFR PTPN22 SEMA4A WDR48 GCH1 SETX MT-TS2 CAPN1 CYP7B1 ATXN3 TRAF7 COL12A1 GCGR CDKN1A REV3L CACNA1G COA8 MYH7 THSD1 CAVIN1 SLC12A3 CPT1C RNF170 ADSS1 PTCHD1 ACSL4 PDK3 TTN TACO1 FAH ADAT3 B4GALNT1 TTR IDUA VCP HFE SAR1B BMPR1A POLR3B TBK1 HADHB ZFHX2 NDUFV2 HSPD1 CLCNKB BRAF SPEG ZNHIT3 GRIN2A COL6A2 SLC33A1 INS SURF1 STAT4 LMOD3 HOXB1 EXT2 MPV17 TBCE PRPS1 SLC52A2 ITGB4 KLHL40 DOK7 ALG13 KY SCP2 AAAS KIF1C ALS2 GNPTAB PAK3 SMARCB1 SPART C9orf72 PDHA1 SLC25A15 CALR CD28 CASR MLH1 MPC1 FLII SETD5 FRMPD4 SMCHD1 SNORD116-1 ENG NDUFS2 POMT1 CHAT TSC1 FLRT1 HMBS ELOVL4 LARGE1 GPI ATL1 DMD MT-TK TBCD CACNA1A ATP5F1E MARS1 RNASEH2A CHRNE MT-TV C12orf65 ARL6IP1 ATXN1 KCNJ10 SMARCE1 IARS2 TXN2 TDP1 COL1A1 AARS1 SLC19A2 DNAJB2 GBE1 UBA1 TBL1XR1 TRAPPC11 BAG3 ZNF81 DSTYK BMS1 GLE1 SLC39A14 NDUFS1 DYNC1H1 LIPT1 MPLKIP PDX1 SCN11A SUCLA2 PRRX1 CPOX JAK2 NARS2 PLEKHG5 KLHL9 LTBP3 DNM2 SIX5 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 UGT1A1 PSEN1 PRPH THPO NGF STAT3 RAB39B ADA2 HADH SERPING1 XPC HSPB3 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 TNFSF11 WARS1 PRNP MT-TQ MORC2 TP53 IL1RAPL1 SHANK3 SCO2 HK1 SCN4A ELOVL5 CA2 MYMK B2M ZC4H2 TRPM7 OTX2 PABPN1 MTHFR COL6A3 GRN PEX1 NOD2 MID2 CRPPA NDN SELENON LAMA2 APTX LRPPRC COL4A1 AR ATL3 DST FOXRED1 CCM2 NTRK1 SCN10A FOS CISD2 GRM1 TSPAN7 SYNE1 RNASEH2B TBP HLA-DPB1 PRRT2 TFG SMC1A PEX16 PPARG SPTBN4 CDKN2C MT-TH NAGS ALG14 SLC19A3 NAGLU DARS2 MYO9A MED25 SEPTIN9 IL12A INPP5K SIL1 PEX12 SGPL1 SNAP25 MOCS2 DPAGT1 NDUFA12 EYA1 ATXN2 XK FUCA1 GRIA3 INF2 WNK1 SLC25A46 MGME1 SCYL1 CDKL5 CHKB SOD1 MT-CO1 CLP1 CCND1 NDRG1 ARSI PRTN3 TARS1 ZNF711 COX15 MTMR14 ATP7A STX16 AHCY KIT MFF PLP1 GDI1 CAV1 RNASEH2C CFL2 NDUFA2 MT-CO2 ASCC1 KCND3 GMPPA GNAQ PDSS1 DNAJC3 MAX TMEM106B PMP2 SYT2 NDUFA9 LAMB2 SLC25A4 SLC25A21 TPRKB MTM1 TNFRSF1B ACO2 TRIP4 CAPN3 NDUFAF6 NEFH CTSD VAMP1 HNRNPA1 SLC46A1 ALG2 GDF6 FTSJ1 SMN2 TGFBR3 POLR3A UPF3B TOP3A KRAS VPS13D RAB3GAP2 TMEM127 FBN1 NIPBL GTF2H5 TUBB3 COG8 MATR3 PDCD10 PEX26 FLNC CXorf56 CTDP1 ZFR GDF3 EDNRB FH SERPINI1 SCN2A SAMHD1 MYO1H NPAP1 GPR101 SPRED1 SMC3 GTF2E2 RAPSN ASXL1 COQ7 AIP GJA1 NDUFAF5 RNASEH1 CYP27A1 TNFRSF1A PEX13 UBAC2 FGF3 TTBK2 SPG21 ATN1 YME1L1 EPAS1 CDH23 COX6A1 PTDSS1 CHN1 AMPD2 PDGFB KCNQ2 POMT2 MECP2 MOCS1 PEX2 HLA-DPA1 HERC2 TLR4 RMND1 NLRP3 FAN1 NDUFAF4 TYROBP NOTCH2 CRYAB TERT PLXND1 ACADS FGD4 XPA FLI1 DEGS1 APP USP27X EXT1 KBTBD13 DNASE1L3 SRPX2 UNC80 PIEZO2 IL10 PRX RNF168 SH2B3 OSMR IGF2 SLC29A3 YARS1 ACER3 ASAH1 AGTR2 FRG1 MKRN3 CRLF1 CLTCL1 SAMD9L TIMMDC1 CPLANE1 SPTLC2 NDUFS3 DLG3 NDUFS4 LITAF CUBN PEX14 MAFA TMPRSS6 DES MT-TE IFRD1 STUB1 ANGPTL6 HSPB8 TNXB PYROXD1 HPGD USP9X KRIT1 TET2 PGM3 PUF60 FDX2 HP_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_NEUROPATHY ALAD NALCN CTSD KCNJ1 HNRNPA1 SCN4A FMR1 JAK2 TRPV4 ATXN8OS COMP PRICKLE1 PMS2 POLG EPCAM NOTCH3 PMP22 MEFV MT-TF IL12A-AS1 GABRG2 CTLA4 HINT1 TOP3A RELA ERLIN2 CRAT HADHA TDP1 SLC2A1 CASR NAGA THPO TYMP OPA3 GNA14 GNA11 PNPT1 HLA-DRB1 CCR1 MFN2 CBLIF MT-ND1 MT-ND4 MLH3 SPG11 RRM2B AIFM1 MSH2 GALC KLRC4 KCNQ3 VPS13A TWNK SCN2A PEX6 MT-TQ GPR101 TP53 HLA-DQB1 RAB7A TTPA XRCC4 PDCD1 HK1 SLC12A6 GNAS GBE1 SEPTIN9 GJC2 AIP TGFBR2 ALS2 MT-CO3 MTHFR FXN TNFRSF1A C4A PLEKHG4 UBAC2 SCN8A MORC2 GAN ATP13A2 KIF5A GLA CCT5 LIFR LYST PTPN22 RAI1 SEMA4A AR ATL3 DGUOK DST MT-TS2 KCNQ2 VHL CAPN1 MPL GJB1 SERPING1 HLA-DPB1 PRRT2 HLA-DPA1 TLR4 PIK3CA SLC12A3 NLRP3 MT-TH FAN1 FAS SIGMAR1 HNRNPA2B1 RNF170 NAGLU DNMT1 IL12A CACNA1A NF2 BMPR1A KLC2 APP PLD3 MEN1 DNASE1L3 SRPX2 UNC80 CLCNKB PIEZO2 IL10 GRIN2A PEX5 STAT4 SH2B3 IL23R NEFH ERAP1 MT-ATP6 SLC52A2 SCYL1 DKK1 MT-CO1 IBA57 CCND1 MSH6 PMS1 MT-TW MT-ND5 HBB DHH PRTN3 CALR MLH1 GSN MT-ND6 HLA-B KRAS CTDP1 SPTLC2 PRPS1 STX16 CUBN ARL6IP1 C11orf95 HMBS PLP1 ATL1 VCP FUS TK2 SLC12A1 RPS20 FGF14 MT-CO2 PSAP TIMM8A TNXB TFG IARS2 COL1A1 HADHB TET2 SLC19A2 TGFB1 MT-TL1 PEX1 HP_PERIPHERAL_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_DEGENERATION ALAD GLE1 TRIP4 SH3TC2 CTSD HNRNPA1 PDX1 AARS1 ABCC8 GNB4 SURF1 NGLY1 PRICKLE1 POLG KLHL9 NEFL PNPLA6 DNM2 UBTF MT-TF LRSAM1 KCNJ11 HINT1 KRAS COASY VPS13D TDP1 RRM2B NAGA ABCA1 STAT3 SERPING1 TYMP TUBB3 COG8 IBA57 MYF6 MFN2 MT-ND1 MT-ND4 DCAF8 CTDP1 ATXN3 TWNK KIF1A WARS1 MT-TQ RAB7A HK1 TRIM2 ADPRS FIG4 SLC12A6 HSPB1 B2M GBE1 ELOVL5 GJC2 AFG3L2 MT-CO3 FXN MARS1 INS PLEKHG4 MORC2 GAN DDHD1 MME ATP13A2 KIF5A BIN1 CCT5 IGHMBP2 APTX WDR48 COA7 ALDH18A1 POLG2 ATL3 AAAS GBA2 DGUOK AMPD2 SETX MT-TS2 TRPV4 WFS1 MICU1 CAPN1 GJB1 SYNE1 MOCS1 GDAP1 ATAD3A JPH1 LMNA UBQLN2 MPZ MT-TH ZFYVE26 HNRNPA2B1 TYROBP DARS2 SEPTIN9 TTC19 TTR MOCS2 HARS1 KLC2 PLD3 SLC25A19 PIEZO2 CYP2U1 BRAF GCK TXN2 XK MPV17 NEFH TBCE RFC1 RETREG1 INF2 MCM3AP YARS1 DMPK MT-CO1 SPG11 MT-TW NDRG1 MT-ND5 C19orf12 RYR1 MT-ND6 MT-ATP6 MTMR14 KCNK9 KIF1B AIFM1 FLRT1 ELOVL4 ATL1 VCP SPG7 TK2 TBCD MT-TE FGF14 IFRD1 MT-CO2 ASCC1 DYNC1H1 GMPPA HSPB8 C12orf65 TFG KCNJ10 FBLN5 FLVCR1 PEX10 SLC25A4 SLC25A21 MT-TL1 TRAPPC11 BAG3 HP_ABNORMALITY_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THORAX GNB1 PROKR2 FGFR3 SMARCAL1 CTBP1 GLI3 SGCD NEB NEK9 KIF7 KCNAB2 ERLIN1 SGSH ARID1B PTEN COMP LMNA CRPPA SOX9 DNAH1 NF1 GPC3 RRAS2 UPF3B CTLA4 KRAS MOGS COL2A1 TK2 IFT80 MED25 DYNC2LI1 MFAP5 CBL LRP5 CHD7 HSPG2 GSC SHOC2 BANF1 PPIB WDR35 COL11A2 TRPV4 BGN TPM2 TMEM43 LGI4 PTCH1 ATP7A SEC23A RAF1 AGRN GAS8 AK9 MEGF10 TNNT1 COLQ FGFR1 HDAC6 GJA1 ORC6 PCYT1A HRAS RNF113A SETBP1 MMP13 MYBPC3 SEMA3E CHST14 CHRND CEP120 RAB33B PIEZO2 GNAS BCOR IFT43 MRAS MYH7 NFIX WRN GLB1 SUFU CHRNG DVL1 INPPL1 BRAF RAD21 CAPN3 HGSNAT DHODH NALCN SLC26A2 WDR60 TRIP11 KDM6B MME KLHL7 DSE ARSB SLC25A11 SGCG TAF1 EVC2 SEC24D WDR19 CCDC8 TENT5A MPL FBXL3 DNAAF4 CRTAP SOST OCRL MEOX1 ERCC2 WNT5A ATAD3A HSD17B4 ACAN GNE SCNN1B GTF2IRD1 UFD1 LETM1 SH3PXD2B MYH3 GPKOW DPM3 TBCE SCN4A SDHD FOXJ1 SGCA WIPF1 DLST FKBP10 ACTA1 GPC4 SLC9A6 ZMPSTE24 TONSL FGFR2 EP300 LFNG DNAL1 EXTL3 MAP2K2 SIN3A CUL7 MMP2 CLIP2 COMT STAT4 SQSTM1 PEX5 ACTG2 WAS DACT1 RSPH9 SMAD4 NPR2 ERCC3 PLAA ITGA3 SOX5 PCGF2 PDHX ATP6V0A2 HIRA TGFBR2 AKT1 PTH1R SOX10 FBN1 SRY PTDSS1 CPLX1 TGFBR1 MYL2 CREBBP OTUD6B SEC23B SLC25A1 WDR34 HBB FKTN IRAK1 CHRM3 SOS1 MYH2 EZH2 ALX4 MDH2 DNAJB13 TMCO1 DNMT3A NSD2 POLG RMRP TRPS1 SIX6 MED12 FGD1 MEFV PPP2R1A GATA4 HINT1 APC VPS13B RIN2 DYNC2H1 MYPN SMARCE1 ALPL SLC18A3 NEK1 PHEX XYLT2 RYR1 KMT2A AGA HUWE1 COL11A1 ERMARD PIGN PIGT KCNQ1OT1 CCNO COL5A2 ABL1 CFTR RIT1 CILK1 NOG COL1A2 ARID2 XYLT1 TPM3 IGF1R GFPT1 LRRC56 FAT4 EYA1 TAPT1 DNM1L IFT122 SMAD3 POLR3A HDAC8 ASAH1 P4HB ABCC9 GMPPB PIK3CA COL13A1 DHCR7 KLHL41 MGP TUBB MCIDAS SC5D SDHB IFT172 VHL EIF2AK3 RECQL4 NGLY1 PPP1CB A2ML1 SALL4 SMARCD1 HES7 TGFB3 CASR RPS6KA3 GUSB HHAT PIGL CFAP221 RNU4ATAC B3GALT6 AMER1 B3GLCT TUBB3 PRDM16 FZD2 STK36 DYM MSTO1 TBCK IFT52 HYOU1 CANT1 MYF6 OFD1 TNFRSF11A PLOD2 RREB1 DDRGK1 NME8 IFT140 ARFGEF2 UBE3B SELENON BMP2 WWOX WASHC5 CFAP298 TNPO3 RSPRY1 ALG12 TRMT10A NXN TBX5 NKAP GALNS ACTA2 MBTPS2 FLNA LOX DONSON COG1 NFASC P3H1 MAP3K7 NAGLU TMTC3 TBX15 MAN2B1 IKBKG PRKG1 IFT57 MUSK SMARCB1 H19 CCDC39 ARMC4 COL12A1 HLA-B VPS37A KCNJ2 POR NEU1 TCIRG1 AEBP1 BIN1 RIPK4 NAA10 BAZ1B CCBE1 UBA1 ZDHHC9 RBBP8 EBP ACTB GP1BB UBTF NEDD4L CHRNA1 SBDS JAG1 HPGD ANO5 KIAA0586 PCNT SLC17A5 SRD5A3 LIG4 HOXD13 TWIST1 CENPJ MAP2K1 FLNB CCDC151 PAX3 KYNU PIK3R2 MATN3 GNPTAB IGBP1 ERGIC1 CHST3 IL12B TTC21B IRX5 FAM111A EXOC6B ZBTB20 FMR1 RTTN IFT81 CHRNB1 LMOD3 SF3B4 EXT2 TCTEX1D2 CBS PIGO ERF KLHL40 SMC1A ADAMTS3 GBA PUF60 BTNL2 RSPO2 TNFRSF11B AR CDC42 NOS1 ELMO2 MBTPS1 NKX3-2 TBX1 TBC1D24 DLL3 POP1 CD96 CALR CYP27B1 REST SETD5 LZTR1 CCDC22 CCDC40 SMCHD1 MGAT2 PRNP GPX4 CHAT SERPINH1 CDT1 FHL1 PIGW TTC25 GDF6 GABRD RET TBCD RSPH3 CSPP1 HLA-DRB1 HYDIN NOTCH3 RRAS C12orf65 MAT2A CYP2R1 ANKRD11 CUL4B BUB1B RPL11 SNRPB WNT4 RPS19 IHH ANTXR1 SLC34A3 TBX3 EFL1 SLC16A2 DNAH11 SNX14 SMS RSPH1 PIGY CCDC47 SPAG1 TMEM231 LIMK1 MPLKIP B4GALT7 JAK2 TRAPPC2 FBN2 DNM2 ELN CTSK MLX PRKAR1A MET MESP2 ATR PORCN THPO SYNE2 DNAAF1 CTNNB1 FGFRL1 BICD2 MMP14 NRAS DNAH9 C19orf12 RUNX2 MTM1 DBH DYRK1A RSPH4A NSDHL SOX11 KANSL1 SLC5A7 EVC TELO2 ROR2 CCDC65 DCHS1 TP53 MYH11 NOD2 SYNE1 KDM5C MTOR SRCAP VPS33A LTBP2 ZC4H2 MYSM1 FLI1 HLA-DQA1 SCNN1A MYF5 FAM20C CHRNE SDHA DES SOX2 MEGF8 SKI MIR140 CEP152 ARVCF GZF1 LAMA2 HBA1 PTPN11 TNFSF11 SDHC SLC35D1 HNRNPH2 CREB3L1 DNAAF6 CCDC103 CLCN7 C2CD3 TBX2 SPP1 HLA-DPB1 BMP1 LMX1B MAF PLN PEX1 HNRNPK SOS2 SLC2A1 ALG14 PIGV HLA-DQB1 PYCR1 DLEC1 RBM10 SGCB MYO9A FREM2 RFC2 INPP5K SIL1 CDH11 ADAMTS10 SNAP25 TSC1 SRP54 DPAGT1 MEF2A EMD GMNN IRF6 GORAB FUCA1 JMJD1C VANGL1 PDGFRB ENPP1 VDR TNNC1 NELFA DVL3 PAX1 NSUN2 ZFPM2 DDR2 KIF22 MSX2 LRP4 ALG2 PRTN3 DNAI1 ZEB2 IDUA BMPER SOX4 GNPTG TARS1 B3GAT3 MTMR14 SON STX16 GLE1 GATA6 RNF6 ARID1A SP7 CFAP410 PIK3C2A PIEZO1 CDC45 EFNB1 LHX3 TTN SCNN1G CDC6 PTCH2 EFEMP2 CFL2 PPP1R15B MYLK LRRC6 ABCC6 DNAAF5 PIGS INTU SEC24C CTNS GDF3 PYCR2 SYT2 LAMB2 DNAAF3 PGAP2 OPA1 RIPPLY2 LIFR VAMP1 SMARCC2 G6PC3 DLG3 SDHAF2 COL1A1 RBM8A SPRTN TGFB2 HERC1 SLC10A7 NIPBL COG4 GTF2H5 CHD4 RPGR CHST11 GNS INTS1 SCARF2 TCTN3 ALDH3A2 FRAS1 SPEG FH POGLUT1 SPRED1 PHF8 CFAP300 RAB3GAP2 FAM149B1 FIG4 SMC3 GTF2E2 ATRX ALDH18A1 SFRP4 RAPSN SPEF2 FARSB PPP3CA FUZ RERE TBX6 ZMYND10 SEPTIN9 SLC2A10 ANK1 MLXIPL KIF1B SALL1 NUP107 TNFRSF1A WNT1 DNAI2 ORC1 FBLN5 AIFM1 NEK10 MECP2 FN1 EPAS1 SPECC1L OBSL1 DOK7 SNX10 SMARCA4 HACD1 ASXL1 ITGA7 MT-TK HLA-DPA1 SMO ADAMTSL2 TSC2 ADA TRIP4 CYP21A2 DPF2 LBR NOTCH2 WNT3 DYSF KLLN CRLF1 GAS2L2 GTF2I PAM16 TRPV6 EXT1 RASA2 KBTBD13 ZBTB16 VCP SH2B3 PTF1A IARS2 BMPR1A IGF2 DNAJC21 DNAH5 PQBP1 GLI1 FRG1 COL5A1 TTC12 PTPN22 KCNJ8 ORC4 TMEM127 PACS1 MARS2 MAPRE2 TRIO WNT7A TBL2 TGDS SIK3 RNF135 DNAAF2 ARF1 MAX DRC1 FERMT1 VAC14 USF3 KCTD1 POMT2 PYROXD1 CCDC114 MAN1B1 TET2 MAP3K20 PGAP3 MAMLD1 FOXE3 MAP1B COL3A1 HBA2 WDR81 HP_ABNORMALITY_OF_THE_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_STERNUM GNB1 SNX14 SMS PROKR2 RSPH1 DYNC2LI1 PIGY CCDC47 CTBP1 SPAG1 TMEM231 LIMK1 B4GALT7 KIF7 WDR35 FBN2 FBN1 ARID1B DNAH1 GPC3 RRAS2 ELN UPF3B MET KRAS MED25 MFAP5 CBL SYNE2 DNAAF1 FGFRL1 IFT122 BMP2 NRAS SHOC2 DNAH9 PPIB DYRK1A BGN RSPH4A PTCH1 NEB KANSL1 AEBP1 ATP7A RAF1 GAS8 MEGF10 PIEZO2 LMNA SLC5A7 TELO2 ROR2 TNNT1 IFT172 COL2A1 CCDC65 ORC6 CYP27B1 HRAS KMT2A SYNE1 KDM5C FGD1 CHST14 VPS33A RAB33B BCOR LTBP2 COL13A1 MRAS NF1 MAN2B1 GPC4 NFIX GLB1 CHRNG DVL1 MYF5 FAM20C BRAF MEGF8 SKI RAD21 DHODH NALCN TRPV4 KDM6B MME GZF1 DSE HBA1 ARSB PTPN11 INPPL1 SDHC HNRNPH2 TAF1 SEC24D DNAAF6 WDR19 CCDC103 TNFRSF11B SOX9 DNAAF4 CRTAP BMP1 WNT5A ATAD3A MAF HSD17B4 SMC1A MATN3 HNRNPK GTF2IRD1 IFT80 ACTB SOS2 LETM1 PIGV MYH11 SH3PXD2B PYCR1 MED12 MYH3 TTC21B RBM10 MYO9A RFC2 INPP5K FLNB FOXJ1 SIL1 AGRN CDH11 NOTCH3 ACTA1 FKBP10 SNAP25 SLC9A6 SMAD3 EP300 DNAL1 NSD2 TMEM43 CUL7 CLIP2 EMD DACT1 GORAB RSPH9 TPM2 PLAA FKTN SOX5 VDR PCGF2 PDHX ATP6V0A2 TGFBR2 DVL3 SOX10 SRY CPLX1 NSUN2 NAA10 TGFBR1 CREBBP ZFPM2 SBDS DDR2 COL1A2 SEC23B SLC25A1 CHRM3 SOS1 DYM DNAI1 ZEB2 AKT1 DNAJB13 GNPTG B3GAT3 TRPS1 PPP2R1A VPS13B RMRP SP7 RIN2 PIK3C2A MYPN ALPL SLC18A3 PIEZO1 EFNB1 NEK1 PTCH2 PHEX EFEMP2 CFL2 PPP1R15B AGA HUWE1 MYLK PTEN LRRC6 PIGT DNAAF5 CCNO PIGS COL5A2 ABL1 RIT1 NOG IHH XYLT1 TPM3 CTNS IGF1R LRRC56 PYCR2 SYT2 MAP2K1 EVC2 DNAAF3 HDAC8 PGAP2 ASAH1 SDHD CEP120 PIK3CA KLHL41 PPP1CB VAMP1 TUBB MCIDAS G6PC3 SPRTN A2ML1 ZBTB20 SETBP1 TGFB3 TGFB2 RPS6KA3 TBX5 CFAP221 AMER1 NIPBL COG4 B3GLCT LMOD3 RPGR TNFRSF11A FZD2 STK36 CYP2R1 CHST11 MSTO1 HSPG2 TBCK WDR60 HYOU1 OFD1 PLOD2 FLNA INTS1 SCARF2 TCTN3 NME8 FRAS1 SELENON IFT140 COL11A2 TBX3 CFAP298 RSPRY1 SPRED1 CFAP300 RAB3GAP2 FAM149B1 FIG4 SMC3 ALDH18A1 TRMT10A NXN SPEF2 FARSB NKAP GALNS ACTA2 MBTPS2 LOX TBX6 ZMYND10 SMAD4 SLC2A10 PRKG1 MLXIPL LZTR1 CCDC39 ARMC4 NUP107 VPS37A DNAI2 FBLN5 NEU1 AIFM1 LMX1B NEK10 MECP2 FN1 SPECC1L BAZ1B EXTL3 CCBE1 HACD1 ITGA7 ZDHHC9 ADAMTSL2 ABCC6 UBTF TRIP4 LBR NOTCH2 DYNC2H1 CHST3 HPGD KLLN LIG4 GAS2L2 GTF2I IFT52 FGFR3 CCDC151 MAP2K2 RASA2 IGBP1 COL12A1 IRX5 FMR1 PTF1A CBS DNAJC21 PIGO CDC42 ERF IFT43 DNAH5 PIGL PQBP1 PUF60 COL5A1 TTC12 SRP54 ELMO2 MBTPS1 CD96 ORC1 REST SETD5 OBSL1 MYL2 MAP3K7 PACS1 CCDC40 MARS2 MGAT2 COL1A1 MAPRE2 CHAT TRIO WNT7A TBL2 TGDS SIK3 FHL1 RNF135 SDHB PIGW TTC25 DNAAF2 WDR34 RET DRC1 TBCD VAC14 USF3 RSPH3 HYDIN CCDC114 RRAS MAT2A MAN1B1 GATA6 BUB1B MAP3K20 EVC PGAP3 B3GALT6 FOXE3 SLC34A3 TRIP11 SUFU GUSB EFL1 ARID2 COL3A1 SLC16A2 HBA2 DNAH11 HP_PECTUS_EXCAVATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM GNB1 SMS PROKR2 IGF1R RSPH1 PIGY PIK3CA CCDC47 KLHL41 SPAG1 TMEM231 LIMK1 ACTA1 PPP1CB TUBB MCIDAS KIF7 WDR35 CHST14 SPRTN A2ML1 DNAH1 ZBTB20 GPC3 RRAS2 TGFB3 ELN RPS6KA3 UPF3B MET KRAS TBX5 CFAP221 AMER1 NIPBL COG4 MFAP5 B3GLCT CBL SYNE2 DNAAF1 LMOD3 RPGR FZD2 STK36 IFT122 NRAS CHST11 SHOC2 DNAH9 MSTO1 HSPG2 MED12 TBCK PPIB PIEZO2 MYPN DYRK1A OFD1 RSPH4A TPM3 FLNA NEB KANSL1 INTS1 SCARF2 AEBP1 ATP7A TCTN3 NME8 GAS8 MEGF10 LMNA SELENON ROR2 BMP2 COL11A2 CCDC65 CFAP298 COL2A1 CFAP300 RAB3GAP2 SMC3 KMT2A ALDH18A1 SYNE1 TRMT10A KDM5C NXN FGD1 SPEF2 VPS33A FARSB NKAP MBTPS2 BCOR LTBP2 LOX ZMYND10 MRAS NF1 SLC2A10 MAN2B1 GPC4 NFIX MLXIPL CHRNG DVL1 MYF5 FAM20C BRAF CCDC39 ARMC4 NUP107 MEGF8 SKI RAD21 DHODH DNAI2 FBLN5 LMX1B TPM2 KDM6B NEK10 MECP2 PTPN11 INPPL1 SPECC1L MAP2K1 SDHC BAZ1B EXTL3 TAF1 SEC24D DNAAF6 CCBE1 HACD1 CCDC103 DNAAF4 CRTAP ITGA7 TGFBR1 ZDHHC9 WNT5A ADAMTSL2 MAF HSD17B4 SMC1A MATN3 HNRNPK GTF2IRD1 DVL3 ACTB SOS2 TRIP4 PIGV SH3PXD2B MYH3 RBM10 RFC2 HPGD FLNB FOXJ1 CDH11 KLLN NOTCH3 RAF1 LIG4 SLC9A6 GAS2L2 GTF2I WDR19 EMD IFT52 FGFR3 CCDC151 PTEN EP300 PPP1R15B PIGT DNAL1 MAP2K2 TMEM43 RASA2 IGBP1 CUL7 CLIP2 COL12A1 IRX5 FMR1 RSPH9 PTCH1 CBS PIGO FKTN ERF IFT43 PCGF2 PDHX AKT1 ATP6V0A2 DNAH5 PIGL PQBP1 PUF60 TGFBR2 SOX10 TTC12 SRY NSUN2 NAA10 CREBBP DDR2 COL1A2 SEC23B CHRM3 SOS1 DNAI1 SETD5 ZEB2 DNAJB13 MYL2 LZTR1 MAP3K7 PACS1 CCDC40 SMAD3 MGAT2 PPP2R1A MAPRE2 TRIO VPS13B FBN1 TBL2 TGDS SIK3 FHL1 SDHB PIGW TTC25 DNAAF2 PIEZO1 EFNB1 RET DRC1 TBCD EFEMP2 CFL2 HUWE1 USF3 RSPH3 LRRC6 DNAAF5 CCNO ABL1 RIT1 NOG HYDIN IHH XYLT1 CCDC114 RRAS LRRC56 TELO2 MAP3K20 PGAP3 B3GALT6 DNAAF3 HDAC8 PGAP2 ARID2 COL3A1 SDHD SLC16A2 CD96 DNAH11 HP_PECTUS_CARINATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_CARINATUM SNX14 SMS VPS33A MYO9A NOTCH2 COL13A1 CHST3 INPP5K FLNB VAMP1 SIL1 B4GALT7 AGRN KIF7 G6PC3 FKBP10 FBN2 FBN1 RAF1 SNAP25 PPP1CB A2ML1 MAP2K1 RRAS2 TGFB3 RPS6KA3 DVL1 RASA2 PTPN11 BRAF MED25 COG4 MFAP5 PTF1A GORAB TNFRSF11A FZD2 BMP2 CBS DNAJC21 PLAA DYM HSPG2 PPIB HYOU1 SOX5 COL2A1 PCGF2 PLOD2 ATAD3A TGFBR2 DVL3 KRAS COL5A1 SLC5A7 TELO2 ROR2 TNNT1 COL11A2 TBX3 SRP54 SBDS MBTPS1 SLC25A1 RAB3GAP2 FAM149B1 ATP7A SOS1 HRAS ORC1 ZEB2 NXN LZTR1 RAB33B GNPTG NKAP PIEZO2 MBTPS2 B3GAT3 TRPS1 TBX6 MRAS SMAD3 MARS2 WNT5A SLC2A10 MAN2B1 COL1A1 CHAT WNT7A TGDS RNF135 RMRP SP7 VPS37A MEGF8 SKI NALCN SLC18A3 NEK1 NF1 NEU1 TBCD TRPV4 NRAS MME GZF1 AGA FN1 HBA1 PIGS COL5A2 BGN MYH3 RIT1 UPF3B HNRNPH2 CHRM3 IHH XYLT1 CBL RRAS ZDHHC9 TNFRSF11B PYCR2 MAN1B1 BMP1 TGFBR1 SYT2 EVC EVC2 UBTF ACTB SOS2 TRIP11 GUSB EFL1 PYCR1 HBA2 HP_ABNORMALITY_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BREAST SMS PIGY CCDC47 CTNNB1 FMR1 PHF6 MPLKIP INSR RAD51 CCDC141 FGFR1 ESR1 KIFBP AFF4 FSHR STK11 FSHB TP63 TCF4 COG7 GPC3 KISS1 RRAS2 CASP10 RELA KRAS CDH1 TWIST2 PORCN CYP19A1 CBL SPRY4 CHRNG TACR3 FGF8 FGF17 HSD3B2 COX7B ORC6 ATR ALG11 NFIX NR5A1 KANSL1 ANOS1 PRLR PALLD CDKN2A RB1CC1 RNF113A SLC35A2 TFAP2A SMCHD1 AR BMP15 HDAC8 MRAS PALB2 MGMT GPC4 WRN FRAS1 GNRHR FASLG WDR11 SMAD4 MEGF8 RAD21 RSPO1 DHODH AKT1 KIAA0586 CKAP2L RERE KDM6B KDM1A KLHL7 MASP1 SOX3 SDHC ARHGEF2 FLRT3 UBR1 KISS1R CASP8 TERF2IP B3GLCT CYB5A HFE MDM2 GNPTAB FGFR2 SMC1A HNRNPK PMM2 HS6ST1 AKT2 ACTB SOS2 NUP107 BRCA1 PIGV RNF216 BAP1 CDH11 RAD50 MEN1 PPP2R5D DCC ACD SOX10 PROKR2 LMNA HESX1 VAMP7 MRE11 GMNN TWIST1 TCF20 ERCC3 POLR3H BARD1 ITGA3 SLC25A46 GNAS APC ERCC6 LEP RBM28 NELFA NECTIN1 SRY DOLK AIP FOXL2 TRRAP SEC23B LHB DUSP6 MITF SOS1 BRCA2 EZH2 ZEB2 POLD1 EDARADD RNF43 NSD2 RAB18 TARS1 LEPR CHD7 GNRH1 SLC25A24 KDM6A GATA4 SH3PXD2B C11orf95 BRIP1 PPM1D PACS1 HMMR RAF1 MSH6 LHX4 PRKN POLR3A CPT2 CDC45 EFNB1 BNC1 CDC6 KMT2A SEMA3E PTEN CYP17A1 PIGT RIT1 CILK1 CDKN2B TFAP2B USP9X PSMC3IP INTU HDAC4 PEX3 IGF1R PIK3CA ATM FAS NSMF MRPS22 HSD17B3 PGAP2 POU1F1 SDHD CHEK2 RSPO2 RAD54L DHCR7 PTPRF TUBB NQO2 RAD51C A2ML1 ZBTB20 SETBP1 NUP188 MAP3K1 ALMS1 ZFPM2 WWOX SLCO2A1 PIGL AXL AMER1 NIPBL IDH2 GNE GTF2H5 PROP1 SLC29A3 TP53 EDA WASF1 RFT1 DHX37 ARHGAP31 POLR3B SMARCA2 MSH2 PROK2 LAS1L UBE2A IL17RD ADNP TBX3 GPR101 NBN TMCO1 RAB3GAP2 ALG12 FIG4 SMC3 GTF2E2 ACOX1 ALG9 MDH2 NTHL1 YY1 ASXL1 COG1 CYP11A1 IKBKG RAD51D COQ8A FREM2 LETM1 TRAF7 PIGN ORC1 NRAS RIPK4 CDH23 WAC NIN UBA1 POT1 KCTD1 REV3L NONO COLEC11 SLC22A18 PNPLA6 CYP21A2 MAF CUL4B CERT1 MLH1 WNT3 ATN1 KLLN TERT PLXND1 PHB TAC3 RASA2 KIF15 CHST3 RASGRP1 CDK4 ANTXR1 FEZF1 SRA1 COLEC10 SPIDR XRCC3 PIGO IBA57 POLE GLI2 SOX9 ORC4 GRIP1 ARCN1 ERCC2 FOXA2 WT1 TBL1XR1 EBF3 ABCD4 POC1A OFD1 WASHC5 SETD5 AAGAB LZTR1 CCDC22 PTPN11 IDH1 COL14A1 MC1R MAPRE2 CDT1 WNT7A SDHB SLC6A17 ERMARD PRKAR1A PIGW NR0B1 DMRT3 VAC14 USF3 CSPP1 SEMA3A OTX2 DPAGT1 RRAS HPGD MAN1B1 ZMPSTE24 CYP11B1 MAB21L1 PGAP3 OPCML PRKCD HP_GYNECOMASTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GYNECOMASTIA CUL4B RNF216 PIK3CA FMR1 PHF6 FLRT3 KLLN CCDC141 FGFR1 NSMF AFF4 LAS1L DCC ZBTB20 SOX10 KISS1 TAC3 MAP3K1 DUSP6 PTEN ALMS1 PROKR2 ANOS1 ZFPM2 TACR3 WWOX SLCO2A1 FEZF1 AXL FGF17 CYP19A1 KISS1R HESX1 AR VAMP7 SPRY4 SLC29A3 SRA1 FGF8 WDR11 HSD3B2 GNRHR ITGA3 DHX37 AKT1 POLR3B LEP HS6ST1 HSD17B3 RBM28 PROK2 SRY IL17RD SOX9 SEC23B STK11 LHB CYP17A1 WT1 MEN1 SMCHD1 LEPR HDAC8 CHD7 NR5A1 GNRH1 CYP11A1 SH3PXD2B COQ8A SDHB ERMARD RSPO1 POLR3A NR0B1 DMRT3 USF3 SEMA3E AKT2 CDH23 AIP SEMA3A SDHC CYB5A HFE HPGD GATA4 CYP11B1 PNPLA6 CYP21A2 SDHD HP_ABNORMALITY_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RIBS RSPO2 RIPPLY2 LIFR CCDC8 SLC35D1 DYNC2LI1 CTBP1 GLI3 DHCR7 MGP NEK9 KCNAB2 IFT172 SGSH INPPL1 RECQL4 IFT80 COL1A1 RBM8A COMP GDF6 SOX9 GPC3 SETBP1 DNM2 HES7 FLNB WDR35 MESP2 ATR PORCN RNU4ATAC B3GALT6 AMER1 PRDM16 CHRNG FGFRL1 CHD7 CYP2R1 ORC6 BANF1 HSPG2 TBCK IFT43 RUNX2 PPIB NEB WDR60 MTM1 GNS COL11A2 TRIP11 MYF6 TNFRSF11A NSDHL PTCH1 SCARF2 DDRGK1 IFT140 GDF3 SEMA3E ROR2 BMP2 HDAC6 WASHC5 SLC26A2 TMCO1 PCYT1A CYP27B1 ALG12 FIG4 KMT2A MMP13 NXN TBX5 CHRND CEP120 GALNS PPP3CA FUZ NIPBL RERE DONSON TBX6 COG1 FGFR3 ACTA1 NFASC P3H1 FLI1 MAP3K7 NAGLU MAN2B1 GPC4 IKBKG ANK1 IFT57 GLB1 MYF5 SALL1 LETM1 SNRPB SOX2 COL2A1 SKI HGSNAT CEP152 WNT1 ORC1 AIFM1 KIAA0586 LMX1B APC TCIRG1 ABCC9 BIN1 ARSB PTPN11 FLNA OBSL1 TNFSF11 SEC24D TRPV4 CREB3L1 SNX10 WDR19 TENT5A PTH1R CLCN7 C2CD3 CRTAP OCRL SMO SOST LMNA ACTB SBDS ADA MYH3 MAF LBR TTC21B DLL3 TBCE DYNC2H1 JAG1 WNT3 DACT1 CHST3 ADAMTS10 KLHL41 SRP54 CENPJ BMPER PAM16 LRP4 TRPV6 LFNG WDR34 EXT1 NSD2 MATN3 MUSK CUL7 FAM111A EXOC6B GPX4 RTTN ZBTB16 IFT81 GMNN IRF6 LMOD3 SF3B4 EXT2 SMAD4 VANGL1 KLHL40 VDR COL1A2 SMC1A PUF60 NELFA GNPTAB PTDSS1 CPLX1 ALPL ANKRD11 KCNJ8 ORC4 DDR2 NKX3-2 TBC1D24 LRP5 ATP7A CHRM3 RYR1 EZH2 DYM COL11A1 CHRNA1 PAX3 HOXD13 CCDC22 RMRP B3GAT3 FGFR2 MTMR14 SIX6 ZMPSTE24 SON SERPINH1 GATA6 WNT7A ERMARD CFAP410 FBN1 CDC45 NEK1 CDC6 MEOX1 PTCH2 PHEX GABRD FERMT1 VAC14 DNAJC21 CSPP1 BGN NOG INTU CDT1 CTNS GLE1 IDUA TAPT1 MBTPS2 EVC IFT122 EVC2 XYLT1 MAMLD1 RPS19 IHH POLR3A DNMT3A SLC34A3 SUFU P4HB HP_SHORT_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_RIBS COL11A1 PORCN SLC35D1 GLI3 CEP120 KIAA0586 FGFR3 IFT172 INPPL1 IFT80 WDR60 MYF5 FLNA PAM16 TRPV6 SETBP1 DYNC2H1 WDR35 ALPL NEK1 CUL7 PTCH2 TTC21B LMX1B VAC14 GPX4 SLC26A2 PTH1R IFT81 CSPP1 SF3B4 IFT43 RUNX2 INTU TRPV4 COL11A2 TRIP11 COL2A1 NSDHL PTCH1 C2CD3 DDRGK1 IFT140 GNPTAB DYNC2LI1 TAPT1 SMO EVC IFT122 EVC2 DDR2 NKX3-2 ORC6 IHH WDR34 ALG12 FIG4 SUFU ORC1 EZH2 LBR HP_ABNORMALITY_OF_THE_DIAPHRAGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIAPHRAGM EFEMP2 RIPPLY2 PORCN SH2B1 ASNS DHCR7 CHST3 TRIP4 KIAA0586 SMARCC2 WT1 RPS28 ADAT3 STAG2 GPC4 ARID1B KLHL41 GPC3 SMARCD1 HES7 DIS3L2 LFNG HYLS1 SIN3A COX7B ZFPM2 POGZ KIF7 NIPBL CHRNG DACT1 LMOD3 HCCS FBLN5 NEB KLHL40 SOX11 RLIM NELFA RSPO2 RARB MN1 TRRAP MESP2 DLL3 SMC3 ALG9 SETD5 TRAIP HOXD13 SOX4 NSD2 WNT3 B3GAT3 LRP2 ACTA1 SLC2A10 GATA4 DNAJC19 ADGRG6 SUFU GATA6 SMARCB1 KMT2D LETM1 ARID1A RAD21 MCTP2 STRA6 SMARCE1 PIGN EFNB1 PBX1 KMT2A RPS26 IGHMBP2 PCNA KCNA1 GLI3 WNT4 ABL1 ARID2 HDAC4 SMARCA4 NDUFB11 KDM6A PLOD3 GNE SMC1A FLNA HDAC8 DPF2 MTM1 CD96 MAF HP_CONGENITAL_DIAPHRAGMATIC_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA EFEMP2 RIPPLY2 PORCN SH2B1 DHCR7 CHST3 KIAA0586 SMARCC2 WT1 RPS28 ADAT3 STAG2 GPC4 ARID1B GPC3 SMARCD1 HES7 DIS3L2 LFNG SIN3A COX7B ZFPM2 POGZ KIF7 NIPBL CHRNG DACT1 HCCS FBLN5 SOX11 RLIM NELFA RSPO2 RARB MN1 TRRAP MESP2 DLL3 SMC3 ALG9 SETD5 TRAIP HOXD13 SOX4 NSD2 B3GAT3 LRP2 SLC2A10 GATA4 SUFU GATA6 SMARCB1 KMT2D LETM1 ARID1A RAD21 MCTP2 STRA6 SMARCE1 PIGN EFNB1 PBX1 KMT2A RPS26 PCNA KCNA1 GLI3 WNT4 ABL1 ARID2 HDAC4 SMARCA4 NDUFB11 KDM6A SMC1A FLNA HDAC8 DPF2 CD96 MAF HP_ABNORMALITY_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYMUS TFAP2A SEMA3E RAG1 NEK9 G6PC3 WIPF1 ANTXR2 PTEN RAG2 EPG5 NSMCE3 CDKN1B ARVCF TBX1 COMT TTC7A DCLRE1C ATM WAS TTC37 AK2 SKIV2L JMJD1C CHD7 RORC TCOF1 SEC24C PEX5 IL2RG HIRA RREB1 ERCC8 AKT1 FRAS1 CDKN1A POLR1C GP1BB POLR1D CDKN2B UFD1 ADA CDKN2C TP63 MEN1 HP_ABNORMALITY_OF_THE_SCAPULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SCAPULA SGCB CCDC8 GMPPB SLC35D1 SGCD NPR2 CAPN3 DYSF ANO5 SGCA NEB PCNT ACTA1 INPPL1 RAF1 LMNA ALG2 EMD GDF6 CRPPA SOX9 PAX3 DPAGT1 FHL1 EXT1 WDR35 TMEM43 KBTBD13 TPM3 PTPN11 CUL7 GPX4 TK2 SQSTM1 SYNE2 VCP MYH7 BICD2 EXT2 GSC HSPG2 C19orf12 RUNX2 COL11A2 MYPN TRIP11 TRPV4 TPM2 NSDHL LGI4 PTCH1 EYA1 KLHL41 ACTB SCARF2 FRG1 TBX15 GDF3 SPEG RSPO2 SELENON PAX1 TBX3 COLQ FGFR1 TNPO3 BIN1 POGLUT1 FIG4 ORC1 MYH2 DYM SYNE1 COL11A1 OBSL1 MYL2 TBX5 TMCO1 POLG SMCHD1 FGFR3 SEPTIN9 TRPS1 COL12A1 FLNB BRAF KCNJ2 EFNB1 TTN MEOX1 PTCH2 LMX1B VAC14 RYR1 RIPK4 FLNA SGCG POMT2 PYROXD1 HACD1 GNPTAB TBX2 GFPT1 SF3B4 ITGA7 RPL11 ATP6V0A2 MAP3K20 LAMB2 DNM1L GNE SOST COL2A1 ALG14 SUFU COL3A1 OPA1 LBR HP_PRIMARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_AMENORRHEA MSTO1 PROKR2 CAV1 WT1 EIF2B3 FLRT3 PROK2 EIF2B4 NR5A1 CCDC141 FGFR1 ESR1 FSHR FSHB STAG3 DCC GPR161 SOX10 KISS1 TAC3 MAP3K1 DUSP6 PPARG NIN ZFPM2 TACR3 SNRPN WWOX PWAR1 POF1B FEZF1 AXL FGF17 NIPBL KISS1R HESX1 AR VAMP7 SPRY4 SRA1 FGF8 TP63 WDR11 BMP15 SPIDR POLR3H GNRHR SYCE1 DHX37 HSD17B4 MCM8 POLR3B LEP CTDP1 FIGLA HS6ST1 TRMT10A ANOS1 GDF9 TWNK IL17RD SOX9 PEX6 NPAP1 MKRN3 CYP17A1 DHH SMC3 PCSK1 BMPR1B CISD2 SETD5 ITGA8 CYP19A1 NOBOX POLG LEPR SNORD116-1 NSMF CHD7 GNRH1 SRY SEMA3A RAD21 EIF2B1 BNC1 NR0B1 LARS2 DMRT3 PWRN1 CLPP KMT2A NDN PSMC3IP SEMA3E SMCHD1 EIF2B5 ESR2 LHX4 CYB5A EIF2B2 GATA4 MRPS22 HERC2 CDON SOHLH1 MAGEL2 WNT4 SMC1A HDAC8 ROBO1 NUP107 MCM9 SNORD115-1 PEX1 HP_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROLITHIASIS PAX2 CDC73 SLC34A1 PREPL LIMK1 GRHPR RFC2 BICC1 MICOS13 SLC36A2 GNAS MOCS2 GANAB GTF2I CLCN5 GDF2 ATP7B ELN STXBP1 CLIP2 HOGA1 CASR SLC37A4 AR SLC9A3R1 AP2S1 G6PC SLC7A9 KRT17 HSPG2 SMAD4 ACVRL1 PKD2 USP8 PLCD1 PRPS1 APRT PLG GNA11 CDH23 BTNL2 CACNA1D SLC3A1 AGXT PKD1 MOCOS NOD2 ADAMTSL1 CLDN10 CYP24A1 SETBP1 ATP6V1B1 SLC6A19 VDR CHST14 XDH CYP27A1 KCNH1 ADCY10 SLC6A20 CLDN16 FBN1 GCM2 CDKL5 SERPINH1 KCNQ1OT1 TBL2 MECP2 AIP GABBR2 CLDN19 OPLAH AGPAT2 CDKN1C DSE SLC1A1 HPRT1 BAZ1B HLA-DRB1 SI BSCL2 PPM1B KCNQ1 CTNS NTNG1 MGME1 ENG ARMC5 MOCS1 IGF2 OCRL SLC2A9 HNF1B GTF2IRD1 ANTXR1 SLC26A1 SLC34A3 CTH HGD SLC22A12 CAMKMT HP_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERTILITY CCDC39 RSPH1 PLIN1 CATSPER2 CCNO SPEF2 SPAG1 FLRT3 DAZ4 MCIDAS CCDC141 TSGA10 ZP3 GBA2 LHCGR DNAH1 MAP3K1 ZFPM2 WWOX PWAR1 AXL CFAP221 STRC PROP1 DNAAF1 RPGR WEE2 STK36 DNAH9 DNAAF5 RSPH3 BRDT ADGRG2 DHX37 OFD1 RSPH4A CFAP251 POLR3B HSD17B3 NME8 GAS8 CFTR NPAP1 ZP2 CCDC65 CFAP298 CFAP300 DAZ2 CDC14A PPP2R3C AR CYP19A1 AMHR2 SEPTIN12 TUBB8 ZMYND10 GCM2 DNAAF4 RNF216 SRY ARMC4 CFAP44 DNAI2 TTC29 FCGR2A TEX14 NEK10 NDN ZP1 DNAI1 SOX3 TGFB1 TSPY1 HUWE1 AURKC DNAAF6 CCDC103 DDX3Y GATA4 SPATA16 HERC2 MAGEL2 SNORD115-1 MEI1 PADI6 SOHLH1 SLC26A8 FOXJ1 NR3C1 GAS2L2 PMFBP1 MAP2K1 CCDC151 SUN5 DUSP6 DNAL1 CATSPER1 SNRPN TLE6 LMNA FEZF1 FGF17 VAMP7 PRLR SRA1 RSPH9 WDR11 AMH USP9Y HESX1 GNRHR ARMC2 DNAH5 CDH23 TTC12 GLI2 CCDC40 PATL2 FSHB SOX9 BRAF H6PD FOXL2 MKRN3 FOXA2 WT1 NANOS1 DHH LRRC6 DNAJB13 PTPN11 SNORD116-1 FSIP2 HJV RBMY1A1 DAZ1 NR5A1 GNRH1 CFAP43 LHX4 DNAAF3 TTC25 CEP19 DNAAF2 PGR IL17RD NR0B1 DRC1 DMRT3 PWRN1 SEMA3E DAZ3 SYCP2 QRICH2 STUB1 FANCA SPRY4 OTX2 HYDIN CTNS CCDC114 LRRC56 ZMPSTE24 MEIOB KLHL10 PLCZ1 PANX1 TEX11 AK7 POU1F1 USP8 DNAH11 HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS C1QB C1QC C3 C1QA PGM3 LMNB2 SOX18 HP_ABNORMALITY_OF_THE_URETHRA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETHRA SMS NKX2-1 CTBP1 GLI3 LIMK1 KRAS STAR KCNAB2 FANCL AFF4 ARID1B MAPRE2 ARX MAP3K7 GPC3 ELN BRIP1 CEP55 POLE ATR MED25 DYNC2LI1 WRAP53 CHRNG FGFRL1 HSD3B2 COLEC10 TBX1 ORC6 HCCS PEX1 WDR35 MTM1 CC2D2A ITGA6 PIEZO2 EVC PEX6 FGFR1 HLA-B DCHS1 IGF2 OGT SETBP1 TFAP2A FGFR3 MTOR AR PLEC SRCAP RPGRIP1 GATAD2B BCOR MAMLD1 SLX4 PEX10 GPC4 FRAS1 SUFU TMEM70 KMT2D C2CD3 CDKN1C SOX2 RAD21 MCTP2 RSPO1 PITX2 CEP290 ARVCF ATRX KIAA0586 FANCA RERE PEX12 B9D1 SMCHD1 HBA1 PTPN11 SKI SOX9 EVC2 XRCC2 UBR1 TMEM67 WNT4 B3GLCT CYB5A SSR4 UBE2T BNC2 TINF2 SMC1A LMNA GTF2IRD1 UFD1 LETM1 FANCB WT1 RPL10 PEX14 RAC1 FANCM RFC2 ERCC4 CDH11 RAF1 ZMPSTE24 EP300 HPSE2 LFNG NSD2 DVL1 SIN3A CUL7 CLIP2 COMT POR WDPCP VAMP7 GMNN JMJD1C SMAD4 SRD5A2 FLNA HIRA DKC1 BRCA2 NELFA SETD5 DVL3 PAX6 SRY PTDSS1 CPLX1 NSUN2 NAA10 CREBBP TMEM94 NR5A1 COL7A1 WDR34 RPL35A BRCA1 CHRM3 CSPP1 ZEB2 HOXD13 TCTN2 TERT WNT3 TTC8 ALMS1 FZD2 PNPLA6 MAD2L2 SIX6 MED12 GATA4 FAT4 RIN2 DYNC2H1 BRAF PEX13 POLR3A CDC45 EFNB1 NSD1 CDC6 KMT2A BDNF HUWE1 CYP17A1 ABL1 CILK1 PDE4D MKS1 TUBB SPECC1L SEC24C BMP4 TMEM107 TAPT1 KDM5B HNF1B CTC1 PEX2 ISL1 HDAC8 PALB2 FLT4 THOC6 HOXA13 RIPPLY2 CCDC8 FANCE DHCR7 MNX1 RTTN NOP10 IFT80 PEX16 MYMK RFWD3 MKKS TBX22 HES7 MAP3K1 ZFPM2 WWOX COX7B KIF7 NIPBL SAMD9 ZIC3 HNF4A SALL1 PRDM16 KIFBP NEB ITGB4 DHX37 COLEC11 PEX5 ATPAF2 HSD17B3 RREB1 FANCF PEX26 WASHC5 MESP2 TMEM216 LRIG2 ALG12 FIG4 SMC3 B9D2 PEX19 TTC37 FANCG PRKAR1A COG1 ACTA1 CYP11A1 MLXIPL RBBP8 WDR60 FREM2 PSMD12 FANCI IKZF1 PIGN APC2 FANCD2 ORC1 TP63 MECP2 UBE2A MAB21L2 OBSL1 BAZ1B RTEL1 RPGRIP1L NDUFB11 FGFR2 FGF10 GP1BB CYP21A2 RAD51 CUL4B NOTCH2 DACT1 PEX11B PCNT ADAT3 LIG4 GTF2I MID1 KLHL41 EPG5 HYLS1 ESCO2 PSPH NPM1 LMOD3 EHMT1 CDC42 KLHL40 RLIM CDCA7 RAD51C PQBP1 GLI1 DNAJC19 FOXC1 ORC4 GRIP1 KDM1A ARCN1 PLD1 DLL3 TERC CCDC22 WNT5A FANCC FBXL4 PARN ARL6IP6 WNT7A TBL2 ERMARD CLMP GABRD NR0B1 FERMT1 DMRT3 VAC14 NHP2 TMEM231 PEX3 CDT1 USB1 BUB1B CYP11B1 KDM6A SETD2 UBA1 POLA1 PUF60 COL3A1 HBA2 HP_URETHRAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_OBSTRUCTION PLEC SRCAP DACT1 TERT LIMK1 RFC2 ELN NOP10 MLXIPL PARN GTF2I TBL2 SALL1 MAP3K7 HPSE2 RIN2 IGF2 CLIP2 FERMT1 NPM1 WRAP53 TBX1 CHRM3 NHP2 BAZ1B RTEL1 CDC45 ITGB4 ITGA6 DKC1 TP63 USB1 BNC2 TINF2 CTC1 MKKS GTF2IRD1 COL7A1 FLT4 POLA1 LRIG2 TERC FLNA HP_OLIGOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSPERMIA USP9Y TSPY1 PMFBP1 DAZ4 RBMY1A1 ADGRG2 DAZ1 ARMC2 FSHB DDX3Y LHCGR SUN5 STRC NR3C1 CATSPER1 CEP19 CNBP NR0B1 ANTXR1 NR5A1 CATSPER2 DAZ2 TEX15 TDRD9 DAZ3 POC1A CFTR HP_RENAL_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_STEATOSIS APOB ABCG8 APOE LDLRAP1 SIX1 PCK2 PCK1 EYA1 ABCG5 PCSK9 LDLR HP_CYSTIC_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_RENAL_DYSPLASIA JAM3 TBC1D24 NEK8 BICC1 TBX18 BMPER HP_IMPOTENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPOTENCE CACNA1G BAP1 TTR LMNB1 BMP2 TERT CHD7 FMR1 SMO FGFR1 GUCY1A1 AIP GNRHR SLC40A1 WDR11 KISS1 TAC3 PROKR2 ANOS1 SACS HJV SPRY4 TACR3 HAMP CDH23 FGF17 TFR2 PDGFB HFE PIK3CA GNRH1 SMARCE1 DMPK PROK2 FGF8 TRAF7 NSMF SMARCB1 HEXB ATXN8OS SUFU GPR101 AKT1 HS6ST1 ABCD1 KISS1R DUSP6 COQ2 MEN1 NF2 HP_RENAL_CORTICAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_CYSTS IGF2 CSPP1 NEK8 TTC37 ETFDH PEX2 ETFB PEX1 CEP290 KIAA0586 KCNQ1 LIPT2 CDKN1C CD96 INVS ETFA KCNQ1OT1 HP_ENURESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS HPSE2 FAM20A SLC5A2 NPHP3 SLC12A3 AGXT BNC2 LRIG2 ELN CLCNKB FA2H DLG3 AQP2 AVPR2 SLC25A13 UMOD KCNJ10 MLXIPL DPH1 RNF168 HP_GLANDULAR_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLANDULAR_HYPOSPADIAS MKKS MAMLD1 MYMK HOXA13 MTM1 HP_PENOSCROTAL_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENOSCROTAL_HYPOSPADIAS MAMLD1 CDH11 SRY COLEC10 NR5A1 MTM1 HP_ABNORMAL_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EXTERNAL_GENITALIA TAF4B TWIST1 PROKR2 KMT2D CTBP1 GLI3 THOC2 CHD7 PHF6 DAZ4 INSR KRAS CCDC141 KCNAB2 POMT1 TCOF1 B4GAT1 ARID1B PTEN REEP6 RAB3GAP1 SOX9 KIAA1549 TCF4 GPC3 PNPLA6 KISS1 RRAS2 CLP1 MEFV UBE3B UPF3B BRIP1 INSL3 ATRX MYLK STS MED25 DYNC2LI1 CBL SPRY4 DMRT1 TACR3 KCNH1 FGF17 COLEC10 GSC SHOC2 GLI2 RDH12 HCCS PEX1 WDR35 CC2D2A CCR1 CEP41 NFIX MEIOB DSP RAF1 ANOS1 DGCR8 TRIM32 CCDC174 FGFR1 FAM111A ORC6 HESX1 DAZ2 OGT TBX1 RNF113A SETBP1 TFAP2A FGFR3 PTCH1 ROR2 SMCHD1 SEMA3E PLEC PIGQ XRCC4 CHST14 AMHR2 RPGRIP1 CEP120 ESS2 SLC7A14 GATAD2B PIEZO2 BCOR HDAC8 BBS2 MAMLD1 CKAP2L MRAS SLX4 PEX10 NEK1 ESCO2 MECP2 PTCH2 NR5A1 WT1 AGBL5 WRN SUFU GNRHR CHRNG DVL1 WDR11 BRAF BBS4 TREX1 SLC19A2 AGA RAD21 NEDD4L C4A BUB3 RSPO1 DHODH CEP290 NALCN BEST1 FANCA WDR60 KDM6B KDM1A DGCR6 WFS1 PEX12 DSE BRF1 CHUK RAB23 TSPY1 RAB18 PHGDH FLRT3 EVC2 XRCC2 TBC1D20 KISS1R TMEM67 DICER1 WNT4 NKX2-5 GMPPB TOE1 HYMAI ZFPM2 ALKBH8 FGF8 SSR4 FGFR2 OCRL SUZ12 EBP LZTFL1 DCAF17 GATA6 WNT5A ALX4 OFD1 ATAD3A TINF2 SRY MAGEL2 ACTA2 ARL6 GTF2IRD1 UFD1 LETM1 FANCB TDGF1 CDHR1 FAS MEGF8 SNORD115-1 MYH3 RAC1 CEP57 CNGA1 FANCM DHDDS FANCE ERCC6 FLT4 GPC4 WDPCP ZMPSTE24 DCC GPR161 EP300 HPSE2 DIS3L2 LFNG NEK2 IRF6 ANKRD11 MAP2K2 SIN3A SNRPN MAK CUL7 PDE4D CLIP2 COMT SYCP3 AP1S2 POR PIGP PEX11B CRPPA DOK7 IL23R FANCL SMAD4 SRD5A2 ERCC3 ERAP1 DCHS1 C8orf37 PEX5 ATP6V0A2 SOS2 DMPK HIRA DKC1 LEP ADAR GJC2 AKT1 IFIH1 CERKL PAX6 PTDSS1 STT3A CPLX1 CREBBP OTUD6B TMEM94 GNAO1 LMBR1 SEC23B DNAJC21 STK11 WDR34 DUSP6 RPL35A SYCE1 CHRM3 SOS1 RERE EZH2 CBX2 TERT NSD2 HLA-B GATA5 WNT3 LEPR MKS1 TTC8 PEX2 FZD2 MAD2L2 SIX6 DDB2 MED12 GRIP1 FGD1 GATA4 VPS13B PACS1 PRPF4 NODAL TALDO1 RIN2 DYNC2H1 KCNA1 TUB AR PEX13 SMARCE1 DGCR2 KIAA1109 STRA6 NAA10 SOX10 POLA1 PWRN1 PBX1 CDKN1C USP7 KMT2A BDNF HUWE1 ARX CYP17A1 PIGN KCNQ1OT1 RPL10 ACTG2 ABL1 RIT1 CILK1 ARID2 TUBB CDC45 KCNQ1 TPM3 HGSNAT EIF2S3 FAT4 NSMF KIAA0556 PRKAR1A TAPT1 KDM5B ERCC4 DLL1 ALG8 CTC1 ARHGEF18 PMM2 RP1 CDC6 RECQL4 POLR3A PALB2 THOC6 POU1F1 PDE6D OTX2 SDHD HOXA13 CCDC8 PIK3CA DHCR7 KMT2E GPC6 TEX15 MASP1 MNX1 RTTN KEAP1 SC5D STXBP1 TCTN3 NF1 PPP1CB PEX16 MKKS A2ML1 FKRP SMARCD1 HES7 ERCC5 GUCA1B PDE6G CCDC28B HHAT AXL RNU4ATAC KIF7 ZIC3 B3GLCT SALL1 SYNE1 CDKN1B PRDM16 DMXL2 COX7B ADAMTS3 HSPG2 BBS5 IDH3B POMGNT2 TBCK PROP1 GMNN ITGB4 DHX37 COLEC11 MYF6 ATPAF2 MAP3K1 HS6ST1 MBTPS2 RREB1 TWIST2 LAS1L PDE6B SELENON HNF1B STT3B DCX WASHC5 SCN2A TMEM216 PITX2 TMCO1 LRIG2 ALG12 GATA1 ACTB PRKDC PEX19 KLHL10 SPATA7 FANCC NXN BLM LMOD1 TBCE NKAP COG1 GJB2 MAP3K7 LMNA TBX15 SMARCB1 H19 ALOXE3 SOX18 PSMD12 KAT6B RPGR FANCD2 LARGE1 DISP1 AEBP1 JAG1 CYP11A1 BIN1 RIPK4 RYR1 POLE NANOS1 BRWD3 MAB21L2 DVL3 B9D1 BAZ1B ATIC CCBE1 UBA1 GK CDC73 SOX2 POMT2 SMOC1 ZDHHC9 CYP19A1 TBX4 UBR1 TP63 GP1BB NONO BBS12 RAD51 ATN1 KIAA0586 PCNT EYS ADAT3 LIG4 CDK8 IFT27 RGR KIT SDCCAG8 MAP2K1 EXT2 SMC3 EPG5 HRAS HYLS1 MUSK IRX5 ZBTB20 FMR1 SEC23A ATM ECEL1 SOHLH1 IFT81 STAT4 LMOD3 SRA1 BBS7 KLHL7 USP9Y TAF6 KLHL40 TBX22 RLIM RAD51C PACS2 DNAJC19 CDC42 ERCC2 PLD1 TBL1XR1 TBC1D24 DLL3 BBS1 DHH CD96 USH2A POC1A RP2 SETD5 JAM3 MYL2 LZTR1 TRAIP CCDC22 IFT172 PNKP BMP4 SNORD116-1 MYOD1 RBMY1A1 DAZ1 FAM161A RPE65 CNTNAP2 PARN ARL6IP6 KDM5C CDT1 ATP6V1A CTCF SEMA3A NPHP1 KDSR DHCR24 ARL3 PHIP LRAT GABRD NR0B1 DMRT3 AGPAT2 DAZ3 CSPP1 MERTK RNASEH2A UPB1 GNRH1 NOTCH3 DPAGT1 TPM2 POMGNT1 RRAS ZSWIM6 CUL4B NDUFB11 ANKLE2 BUB1B CYP11B1 TEX14 NFIB MAB21L1 HSD3B2 SETD2 SCN1B KDM6A TBX3 FEZF1 B4GALT7 CLIC2 CRB1 PHACTR1 SMS NHP2 GLE1 NKX2-1 LIMK1 SOX3 MPLKIP KLHL15 PRRX1 STAR PAFAH1B1 INPPL1 FBN1 AFF4 PRPF6 FSHB MAPRE2 DNM2 ELN FLNB IL12A-AS1 FOXH1 STAG1 DPM2 PWAR1 CEP55 ATR MED13L PORCN ATP6V1B2 WRAP53 MYRF FGFRL1 NRAS ZNF408 MTM1 FKTN ITGA6 XPC SOX11 KANSL1 KLRC4 ERCC8 EVC PEX6 LIPE POLR1D SPECC1L IGF2 GJA1 SLC25A22 SMARCA2 MRAP MTOR SRCAP POLG MYMK FLI1 SIX3 FRAS1 GAS1 TMEM70 C2CD3 PLAGL1 SKI MCTP2 CEP152 EMG1 ARVCF CRX UQCC2 TGIF1 NDN CTU2 HBA1 PTPN11 BCL10 RBP3 CNGB1 SDHC SLC18A3 ZNF513 CPLANE1 IFT140 CYB5A TSPYL1 VEGFC RNASEH2B IL1RAPL1 CXCR4 UBE2T CFTR BNC2 CDON FARS2 SMC1A HNRNPK ROBO1 XYLT2 NUP88 GDF6 PEX14 FREM2 RBM10 IL12A RFC2 INPP5K SIL1 CDH11 ACTA1 KIZ SGPL1 CCNQ BBS10 PRPF8 ARNT2 RAB3GAP2 BBS9 VAMP7 OPHN1 FBLN1 JMJD1C VANGL1 GRIA3 GNAS ABCA4 GHR FLNA AUTS2 BRCA2 NELFA RXYLT1 NECTIN1 NRL GJB4 NSUN2 POLR1C GJB3 TRRAP CITED2 LHB COL7A1 ASH1L PROM1 BRCA1 ZEB2 EHMT1 PHF8 IMPDH1 HOXD13 TCTN2 SOX4 TARS1 ALMS1 PRCD BMP2 PLVAP MTMR14 SLC25A24 ARID1A ATP6V1E1 CA4 LHX4 PIK3C2A RNASEH2C PIEZO1 EFNB1 CDKL5 NSD1 NR2E3 BUB1 PPP1R15B PCARE SATB2 PIGS TNXB CLCN4 HPRT1 INTU SEC24C BSCL2 NEUROD2 TEX11 TMEM107 FTO PRMT7 ISL1 CLRN1 AHR HSD17B3 TDRD9 RSPO2 RIPPLY2 SLC35D1 GDF1 YWHAE SMARCC2 G6PC3 NOP10 IFT80 RFWD3 LHCGR KMT5B SLC39A4 WWOX HERC1 LHX1 PYCR1 MYH11 NIPBL SAMD9 HNF4A GTF2H5 CHD4 SLC29A3 TOPORS YY1 KIFBP HFE NEB SCAPER ARL2BP MCM8 POLR3B CTDP1 PROK2 ECE1 HIBCH UBE2A IL17RD FANCF ADNP LONP1 SAMHD1 PEX26 NPAP1 TRIP13 MESP2 GPR101 FERMT1 SLC26A2 PRPF3 FIG4 B9D2 GTF2E2 ZIC2 ALDH18A1 KAT6A CASK TTC37 FARSB FANCG DLX4 FUZ NRXN1 PTRH2 ANK1 MLXIPL RBBP8 AIP INPP5E FANCI TNFRSF1A IKZF1 APC2 UBAC2 ORC1 PIGA MCM5 TP53 OBSL1 RTEL1 EWSR1 GJB6 SMARCA4 NDP AHI1 KCNJ6 HACD1 RBMX RPGRIP1L TRIM8 DDX3Y TXNRD2 SAG ITGA7 HERC2 SMO IER3IP1 RARB FGF10 TLR4 TRIP4 CYP21A2 NKX2-6 DPF2 RAPSN MAF NOTCH2 DACT1 MBD5 NNT KLLN FAM149B1 WNT7A GTF2I MID1 XPA KLHL41 LMX1B DHX38 IDH3A TAC3 MECOM MC2R KCNN3 RASA2 IL10 RHO PSPH SHH COG5 NPM1 ZBTB16 COL4A1 RP9 BMPR1A AMH STAC3 KIAA0753 DNMT3A RLBP1 CDCA7 PQBP1 GLI1 FOXC1 ORC4 MKRN3 ARCN1 FOXA2 EBF3 SCYL2 TERC ABCD4 POMK NEXMIF PHF21A FBXL4 AKR1C4 PRPH2 ROM1 SIK1 DAG1 TBL2 TGDS POLD1 RNF135 SDHB ERMARD NR3C1 AKR1C2 SEMA4A CLMP ZMYND15 GJA5 TULP1 SNRNP200 IFT88 VAC14 GBA2 USF3 FSCN2 BBIP1 B3GALNT2 TMEM231 PEX3 ESR2 IMPG2 PSAT1 USB1 PRPF31 MAP3K20 EED PDE6A PUF60 FXR1 COL3A1 HBA2 ALOX12B HP_ABNORMAL_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_GENITALIA PLIN1 CTBP1 CTNNB1 LIMK1 FMR1 SDCCAG8 PHF6 MPLKIP INSR EIF2B4 IL17F F7 HNF1A FGFR1 ESR1 FANCL FGF20 ARID1B FSHR PTEN STK11 FSHB EPCAM ARL6 KISS1 ELN CASP10 CTLA4 RELA AARS2 CDH1 BRIP1 NR0B1 FGFR2 MSH6 GATA3 DYNC2LI1 WRAP53 SPRY4 KIF14 DMRT1 MYRF TACR3 FGF8 DLC1 FGFRL1 ATM FGF17 MMP14 HSD3B2 HCCS BTK WDR35 MTM1 ADGRG2 AKT1 NUP107 NR5A1 MLH3 PTCH1 MSH2 FIGLA MSH3 ERAL1 PLG ANOS1 TWNK EVC TRIM32 PIK3CA LIPE PALLD CDKN2A POLR1D BRCA2 SPECC1L RNF113A SETBP1 BMPR1B ITGA8 AR AMHR2 BMP15 BSCL2 POLG LMNB2 TP53 LRP2 SLX4 DICER1 PALB2 WT1 WRN FRAS1 PMS2 GNRHR FASLG FANCB LMNA WDR11 BBS4 SMAD4 IL10RB RAD21 CORIN BUB3 MNX1 GREB1L ARVCF FANCA INVS KIF7 PTPN11 BCL10 SDHC SOX9 UNG FLRT3 EVC2 MKKS XRCC2 UBR1 KISS1R FOS B3GLCT CCDC141 TOE1 CYB5A KLF6 CXCR4 IGF2 DCAF17 HLA-DPB1 PPARG UBE2T HFM1 AGPAT2 TINF2 SRY NPHP1 SMC1A PMM2 HS6ST1 GTF2IRD1 UFD1 LETM1 HGD CEP57 RIPK4 FANCM RFC2 ERCC4 PTPRJ POLD1 DCC RAD50 TSC1 CCNQ BBS10 EP300 SOX10 LFNG OFD1 SPINT2 NSD2 PROKR2 IRF6 BBS9 MMP2 CLIP2 COMT POR BBS2 HESX1 VAMP7 MRE11 JMJD1C ERCC3 POLR3H MCM3AP GNAS SOX3 STAT6 LZTFL1 TTI2 DMPK HIRA LEP BRCA1 PAX6 CPLX1 JAK3 PMS1 CREBBP FOXL2 POLR1C SEC23B LHB WDR34 DUSP6 CHRM3 MEN1 BUB1B PRTN3 PLA2G2A HOXD13 RNF43 CBX2 TERT MT-CYB WNT3 TARS1 LEPR MKS1 ALMS1 CHD7 BMPR1A MAD2L2 GREM1 IQCB1 PPP2R1A C11orf95 KCNQ1OT1 DYNC2H1 ERCC6 TCTN3 EIF2B1 PRLR CAV1 STRA6 PRKN TGFBR2 IL17RA BNC1 PTCH2 TBX1 LARS2 RPS20 BUB1 CLPP CDKN1C KMT2A CYP17A1 TRAF3IP1 RXYLT1 STOX1 TNXB MYC PSMC3IP INTU SEC24C KCNQ1 BMP4 FAS CCND1 NSMF ODC1 MRPS22 HNF1B CTC1 RCBTB1 COL7A1 SRC RET SMAD3 HDAC8 THOC6 SDHD TTC8 RSPO2 RIPPLY2 FANCE WNT4 PHGDH EIF2B3 IL17RC NAB2 KEAP1 APC NOP10 RECQL4 IFT80 RBM8A RFWD3 NPHP3 RAD51C STAG3 SALL4 HES7 MAP3K1 NIN CHEK2 ZFPM2 SRCAP CCDC28B WWOX COX7B SETD2 AURKA NIPBL RNASEL IDH2 VHL HNF4A GTF2H5 GLI3 SALL1 CDKN1B BBS5 DHH DHX37 ARHGAP31 HSD17B4 MCM8 RREB1 PROK2 CYP11B1 FLCN HOXA13 SEMA3E IL17RD FANCF LONP1 TBX3 TRIP13 MESP2 HYLS1 NBN SMC3 GTF2E2 CEP290 CFTR CYP19A1 NOBOX FANCG ANTXR2 CYP11A1 DIAPH2 FGFR3 RAD51D WDR60 KRAS FLT1 COL3A1 FREM2 MXI1 FANCI BCOR PIGN FANCD2 PDGFRL AXIN2 CDH23 SEMA4A NRAS BAZ1B RTEL1 EWSR1 EIF2B5 TLR2 NDP CDC73 EIF2B2 SF3B4 FREM1 GATA4 WDPCP NDUFB11 TGFBR1 HLA-DPA1 RARB TSC2 TP63 GP1BB BAX TRAF3IP2 BBS12 CAVIN1 FAN1 RAD51 GALT NPHP4 DACT1 MLH1 ZFHX3 EPHB2 KLLN FH B4GALNT1 MSX1 IFT27 WNT7A GTF2I KIT FLI1 MCC TAC3 DHCR7 AXIN1 ESCO2 POF1B RASGRP1 NTHL1 NPM1 AIRE BBS7 INHBA SPIDR AMH TCOF1 TBX6 POLE AKT2 RIN2 CEP164 SRD5A2 GLI1 BARD1 PTPN22 GRIP1 ERCC2 NKX3-2 DLL3 BBS1 ALG9 TERC PTPN12 SETD5 PAX3 TRAIP IDH1 CIDEC FANCC PARN RAD54B TBL2 SDHB SLC6A17 C8orf37 PRKAR1A MAD1L1 DMRT3 CC2D2A USF3 AIP SEMA3A BBIP1 NHP2 GNRH1 IFT172 WDR19 USB1 SOHLH1 CLEC7A OPCML PRKCD MAMLD1 DKC1 WNT10A FEZF1 RPS6KA3 SUFU USP8 HP_BICORNUATE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORNUATE_UTERUS ITGA8 FANCE SF3B4 TNXB FANCG FANCM ERCC4 XRCC2 LRP2 MAD2L2 SLX4 FANCC FANCL SRY FRAS1 RFWD3 RAD51C CCNQ BRCA2 FREM2 SETBP1 HOXA13 UBE2T FANCF FANCI HNF1B RARB MNX1 GRIP1 PIGN DHCR7 FANCD2 ESCO2 BRIP1 STRA6 FANCA PALB2 SPECC1L BRCA1 FANCB ALG9 HNF4A RAD51 HP_HYPERGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGONADOTROPIC_HYPOGONADISM MRE11 FANCC GALT CYP19A1 POLG LEPR GNAS FANCD2 FANCE NR5A1 WT1 POLR3B LSS SRY LHCGR LMNA AHSG MAP3K1 RIN2 ALMS1 ZFPM2 WWOX NR0B1 DMRT3 POLA1 CLPP ZBTB20 SAMD9 VAMP7 CYP17A1 FANCB TYMP SIL1 FANCA BMP15 POLR1C COQ2 DHX37 MGME1 SCP2 DMPK RRM2B CYB5A LEP CTDP1 GATA4 SLC29A3 DCAF17 TWNK SOX9 AMACR ITGB6 PMM2 POLR3A BMPR1B HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM MT-TL1 MT-ATP6 MT-ND1 PRDX1 MT-ND3 MMAB MMADHC OGDH FXN MT-TK MT-TV MMACHC MT-TW FH MT-ND5 MT-ND4 MMAA MT-ND6 MT-ND2 HP_POOR_EYE_CONTACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_EYE_CONTACT SHANK3 RARS1 NDUFAF5 MICOS13 DOCK7 NDUFAF1 MECP2 GFM1 CUX2 TIMMDC1 NDUFAF8 NDUFB10 NTRK2 DEAF1 NDUFAF2 MT-ND2 NDUFAF3 CLP1 ALG13 FRMPD4 NALCN SMG9 MT-ND3 FLCN GRIN1 CACNA2D2 NDUFB3 ADSL FMR1 NDUFA6 NDUFS6 KCNT1 NDUFB9 ST3GAL3 FOXRED1 NDUFA13 GRIA3 NEUROD2 GPHN CDKL5 MEF2C MT-ND1 NDUFS2 NDUFS4 NDUFV1 NDUFAF4 NDUFS3 NDUFV2 PUF60 AP3B2 IREB2 ARFGEF2 SYT1 FOXG1 UBA5 TWNK NEXMIF SLC25A12 RAB11B NDUFA1 UGP2 SPATA5 NDUFS7 NDUFS8 NDUFA11 SLC25A1 TMEM126B NDUFB11 AGTPBP1 TBC1D23 NDUFS1 NUBPL PIGP HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM SMARCAL1 CTBP1 PRSS1 ELMO2 CHD7 PHF6 KCNJ1 RAG1 INSR KCNAB2 SPINK1 MT-CO1 PTH1R DMXL2 EPCAM NF1 ERCC3 CASP10 KCNJ11 SIX3 NLGN3 GPR35 TMEM138 RAG2 SPRY4 FOXE1 TACR3 PPP1R3A CYP11B2 FGF17 RDH12 GLA NR5A1 MT-ATP8 MT-TL1 TTC7A SH2B1 NDUFS3 BPTF ANOS1 B9D1 NKX2-5 FAM111A HESX1 GAN TTPA INS GBA PNPLA6 SECISBP2 CEP57 SMCHD1 XRCC4 AMHR2 ESS2 BMP15 CLCNKB BSCL2 SLC7A14 GNAS LMNB2 SUGCT BBS2 TCTN2 MRAS SLX4 DICER1 MC4R GNRHR CHRNG KMT2D WDR11 PAX8 BBS4 TREX1 PDX1 NSMCE3 SLC19A2 BUB3 PDE8B DDX3X LIPA ARL3 AQP2 ATRX GHR FANCI CFTR RETN RAB18 PHGDH FLRT3 SLC25A11 GPD2 TBC1D20 ABCC8 WNT4 SLC16A1 MDM2 MMP1 HNF4A FGF8 LZTFL1 SRD5A3 MAGEL2 APPL1 UFD1 LETM1 SLC26A4 NUP107 NDUFAF3 TDGF1 KIAA0586 SNORD115-1 ZFYVE26 TMEM126B HACE1 TBCE SOX9 SDHD GPC1 FANCE RAB3GAP1 WIPF1 DLST HBB GANAB DCC MT-TW ATP7B GPR161 EP300 POU3F4 ALX3 BAP1 DEAF1 GNAS-AS1 KISS1R SIN3A PDE4D MMP2 TBC1D7 ACTG2 PIGP WAS SLC5A5 ZFP57 HNF1A SMAD4 SRD5A2 WNK4 DCHS1 FOXP1 CACNA1S NDUFV1 C8orf37 PEX5 USP8 DMPK DUOX2 LEP BRCA1 ADAR CEP41 RBM28 IFIH1 CERKL MSH6 CREBBP POLG APC PKD1 PRKAR1A STK11 PREPL DUSP6 MEN1 GCK MT-ND6 AKT1 SDHAF2 CBX2 DNMT3A TERT LEPR BMPR1A MAD2L2 ZMPSTE24 GH1 MED12 ARSL RPS17 FOXP3 IL12RB1 VPS13B PRPF4 NODAL RAF1 TANGO2 KCNA1 PRLR AR PEX13 TTC8 DGCR2 NKX2-1 NDUFB3 PRKACA CDKN1C USP7 PTEN RFWD3 AK2 RPL10 RPL31 RIT1 PYGL RPL15 PSMC3IP HGSNAT THRB KIAA0556 ERCC4 DLL1 PEX10 KIF1B RCBTB1 ARHGEF18 RP1 RECQL4 MSH3 PALB2 NDUFS7 POU1F1 CAMKMT EIF2B3 TEX15 VHL KEAP1 SDHB STXBP1 STRADA EIF2AK3 PMS2 MKKS A2ML1 POLA1 MT-TF ALMS1 GUCA1B PDE6G CCDC28B MT-ND3 AVPR2 APOE PRDM16 AP2S1 TP53 B4GALNT1 TBCK PROP1 GMNN MAP3K1 GDNF RREB1 PDE6B PEX11B SDHC TSC2 TSHR LHX4 C1QBP WASHC5 SCN2A ABCD1 RPS10 PITX2 TMCO1 WNK1 HLA-DRB1 PEX19 NDUFS1 PEX1 KLHL10 SPATA7 TRMT10A BLM BBS12 MKS1 MT-CYB ANTXR2 RAD51 SRY KRAS FLT1 SP110 PPP2R3C PSMD12 SHH BCOR FAS APOA5 DISP1 ERCC5 SOX10 LIFR NANOS1 ADAT3 MAB21L2 PTPN22 PEX2 SEMA4A COG2 EIF2B5 PIK3CA MINPP1 CCBE1 CDC73 SOX2 TRAF7 GATA4 WDPCP EXOSC2 UBR1 KCTD1 GP1BB REV3L ERF SLC12A3 ENTPD1 GALT SLC16A2 PCNT RRM2B EYS LIG4 IFT27 ERCC6 POLR3B EPG5 MT-TN ERGIC1 SOHLH1 SRA1 BBS7 HRAS TCOF1 SNAP29 AKT2 RAD51C FSHR CDH23 NDUFS4 FOXC2 LMNA GLI2 SDHA TMEM67 TBX1 USH2A IL12A MLH1 CYP27B1 RP2 SETD5 LZTR1 CCDC22 IFT172 MECP2 BMP4 IL2RG PRPS1 DDOST PDE11A FAM161A RPE65 CNTNAP2 PARN IDH2 NR3C2 SLC6A17 KDSR SNRPN NR0B1 DMRT3 HSD11B2 NDUFB9 MERTK NRTN RNASEH2A SCNN1G GNRH1 AHI1 SMARCE1 RRAS ZSWIM6 IARS2 TP63 CACNA1D CUL4B CYP11B1 HNF1B TRHR TNFSF15 IGFALS ANTXR1 KDM6A TBX3 EFL1 NUBPL PDGFRB TMEM231 LIMK1 SOX3 SLC2A2 EIF2B4 HYMAI NTN1 AFF4 PRPF6 FSHB LHCGR ARL6 ELN WFS1 POLE PRSS2 MT-TC TSC1 FGFRL1 FUT8 HSD3B2 HABP2 SAA1 HADH BTK ZNF408 NSDHL XPC NDUFV2 ERCC8 GDF9 PSTPIP1 HMGA2 LRP6 HPD LIPE MT-TQ CDKN2A POLR1D NLRP3 CACNA1C KMT2A GJA1 BMPR1B FOXI1 WDR4 FLNB GCM2 NDUFB10 PLAGL1 FMR1 CORIN SRGAP1 RPGRIP1L NDN FANCB CNGB1 LIPC FOS CCDC141 IFT140 HFE RAI1 SEMA3D ARMC5 IGF2 LEMD3 TRAF3IP1 DCAF17 HLA-DPB1 PPARG TMEM216 CDON MAPK8IP1 ROBO1 SOS2 MT-TH PEX6 TMEM237 PEX14 RNF216 INPP5K KIZ SGPL1 CC2D2A BBS10 STEAP3 ARNT2 NSD2 BBS9 NLRP1 ALG1 SKIV2L G6PC RPS27 TG ENPP1 STAT6 NEUROD1 VDR ABCA4 MGME1 BRCA2 ESR1 NECTIN1 CTRC GJB4 NSUN2 FOXL2 GJB3 PTF1A ITCH PROM1 PIK3R1 PCSK1 PRTN3 CISD2 DNAH1 IMPDH1 PROKR2 PRCD BMP2 PLVAP HJV STX16 ALX4 RET FAT4 GATA6 KCNQ1OT1 CA4 PIK3C2A CAV1 RNASEH2C RAB3GAP2 PIEZO1 BNC1 CDKL5 LHX3 NSD1 ERCC2 MMEL1 BUB1 SEMA3E PCARE ABCC6 MT-CO2 STOX1 IRF5 USP9X PPM1B CTNS TEX11 KLF11 CPLANE1 HAMP PTCH1 MRPS22 GLUD1 AHR COL7A1 STAT1 OPA1 DNAJC3 RPS24 PGM1 G6PC3 KAT6B NSMF NOP10 FGFR1 MPI LSS OTX2 IFT74 SCNN1A CTNNB1 SLC39A4 WWOX HADHA SAMD9 CPA1 GLI3 SLC29A3 TOPORS FBLN5 SCNN1B RPL26 SCAPER CSPP1 IGSF1 CTDP1 HSD17B3 PROK2 ZNF148 FRAS1 BLK FANCF KCNJ10 MT-CO3 GPR101 FANCM CYP11A1 ZIC2 MCM4 CCND1 FANCG FUZ HDAC8 YY1 IL7R PTRH2 FBN1 ANK1 AIP NRAS TWNK APC2 EYA1 ACP5 POLR3A PNPLA2 EPAS1 PTDSS1 TFR2 FOXE3 RTEL1 CBL TRIM8 TNPO3 TXNRD2 HERC2 SMO IER3IP1 MRPS7 CEP290 FAN1 ZNF423 TRIP4 NOTCH2 DACT1 NNT KLLN SASH1 PLXND1 INPP5E XPA EDNRB PAX4 LRP4 IDH3A TSHB TAC3 PPP1R15B PIGT MC2R RASA2 DHCR7 CTLA4 RASGRP1 RHO RP9 TCF7L2 SPIDR DHX37 AMH POU2AF1 RLBP1 TSR2 SLC3A1 FLCN THRA MTNR1B VIPAS39 FOXC1 SRP54 FOXA2 TMEM127 DHH ADA2 AVP PTPN11 IDH1 IYD MT-ND5 NDUFAF1 PRPH2 MAFA RPL35 CEP19 IL17RD MAX ZMYND15 TULP1 SNRNP200 IFT88 MT-TE USF3 PUS1 STUB1 BBIP1 HLA-DQB1 NHP2 FXN PEX3 NDE1 HPGD PSAT1 MKRN3 TKT PRPF31 BCS1L SLC30A8 BSND DKC1 ALDOA PDE6A PAPSS2 FUCA1 GABRA3 TAF4B PLIN1 CASR NEK9 REEP6 STAT3 KIAA1549 GPC3 EDA2R KISS1 RRAS2 RPL5 BRIP1 HMGA1 GATA3 DMRT1 TYMP TTC37 ATM DNAL4 NFIX MT-ND4 MEIOB MLH3 MSH2 DGCR8 TRIM32 TCF4 MT-TK DCLRE1C TAF13 SETBP1 SLC35A2 SLC37A4 TFAP2A TF CEL PIGQ PEX12 PTCH2 WT1 AGBL5 WRN KLHL3 SUFU RAD21 TBX19 DAXX MARS1 IL6 BEST1 RPS28 FANCA DGCR6 MST1 NDUFS6 RAB23 TCTN1 XRCC2 LRP5 OCRL ARL13B AGPAT2 OFD1 ATAD3A TINF2 HSD17B4 GNE PMM2 CEP104 GTF2IRD1 NDUFS8 CDHR1 NF2 MYH3 MRE11 IGF2BP2 SCN4A CNGA1 DHDDS GPC4 TONSL DIS3L2 ARMC9 NEK2 MAK CLIP2 COMT SYCP3 POR SIL1 RMRP GLIS3 PLAA POLR3H NDUFS2 PTH HIRA RNF125 CPLX1 PMS1 RAC1 GNAO1 SEC23B SYCE1 SOS1 MDH2 MRAP RNPC3 WNT3 CAT SIX6 DDB2 GREM1 FGD1 RIN2 TUB SEMA3C EIF2B1 C1S TGFB1 SLC12A1 RPL35A CLDN19 PWRN1 RPS20 CLPP CYP17A1 DUOXA2 PIBF1 SLC26A3 IQSEC2 CILK1 IL2RA SLC7A7 CAVIN1 KCNQ1 EIF2S3 IGF1R ALG8 CTC1 RPL27 DNM1L AMACR ITGB6 NSMCE2 CDKN2B PEX16 MT-ND1 CHEK2 RNU4ATAC NAB2 STAG3 SLCO2A1 CLCNKA AXL RPS26 SALL1 CDKN1B ERCC1 BBS5 IDH3B NEUROG3 MSTO1 RPS29 MALT1 HS6ST1 KCNJ18 LAS1L EDN3 POMC ZFAT BCL10 FANCC TGFBR2 SMPD1 RPGR FANCD2 NFKB2 ADA POLG2 GCH1 BAZ1B MT-TS2 GK CYP19A1 GCGR COL4A5 CDKN1A ARX NONO CLPB CUL3 JAG1 FAM20A STAT5B FAH RGR TPO IFNG SDCCAG8 MAP2K1 PTPN1 HYLS1 POF1B IRX5 NPHS1 ZBTB20 NDUFA6 AIRE KLHL7 SMC1A SCP2 AAAS PLCD1 PUF60 BTNL2 SMARCB1 BRAF NDUFA1 TBC1D24 BBS1 NDUFA11 FOXD3 POC1A FLII MOG MAP3K7 PNKP MT-ATP6 SNORD116-1 CIDEC EXT2 KCNE3 ECE1 ARL6IP6 NPHP1 LRAT GABRD RPS19 POMGNT1 KCNJ5 CYP2R1 TEX14 MCOLN1 PRKCD SETD2 SCN1B TRAPPC11 FEZF1 CRB1 BIRC3 STS STAR FANCL MT-ND2 NLGN4X FOXH1 PWAR1 WRAP53 MMP14 CP DBH LRBA AEBP1 WDR26 PALLD PLCG2 NDUFB11 SLC25A22 HSD11B1 TIMMDC1 NDUFAF8 GAS1 FASLG MCTP2 ARVCF CRX TGIF1 RPL11 FOXRED1 SKI RBP3 VPS33B ZNF513 NDUFAF4 B3GLCT CYB5A TBX2 IRS1 RNASEH2B VAX1 EDA UBE2T HFM1 GLRX5 CDKN2C SOST EFEMP2 SPIB PHEX RFC2 PRPF8 MSMO1 VAMP7 JMJD1C VANGL1 MT-TL2 RPS7 CEP120 PKD2 UCP2 SIX1 NRL H6PD POLR1C SBDS LHB BUB1B NDUFAF2 TCTN3 NR2E3 GJB2 CD36 GHSR GMPPA SEC24C NEUROD2 HADHB PRMT7 SLC25A4 CLRN1 TDRD9 NDUFAF5 GATA1 SLC25A13 SIM1 SHROOM4 NIN ZFPM2 YARS2 LHX1 NIPBL SCARB2 COQ2 ARL2BP MCM8 FH SAMHD1 PEX26 NPAP1 TRIP13 CNOT1 PRPF3 SMC3 MAGED2 CASK RERE NRXN1 MT-TV MLXIPL TRH IGF1 RORC PDGFB NDP EIF2B2 SAG HTR1A HLA-DPA1 CNBP TRAPPC9 FAM111B CYP21A2 ADNP LBR BICC1 RPS15A GTF2I FLI1 DHX38 THOC2 NPM1 RPL18 DNAJC21 CDC42 VPS13A GNA11 IRS2 ADAMTSL1 TERC ITPR3 PHF21A MARS2 DNAJC19 ROM1 SIK1 TBL2 POLD1 AHSG NR3C1 FSCN2 SEMA3A TNXB ESR2 IMPG2 SARS2 USB1 FDX2 HP_ABNORMALITY_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYROID_GLAND KMT2D NKX2-1 CDC73 LIMK1 MINPP1 BIRC3 INSR FMR1 KCNAB2 AFF4 STAT3 DMXL2 EPCAM LIG4 ELN CASP10 FOXH1 RRM2B GPR35 RAG2 FOXE1 TTC37 TSC1 FUT8 MMP14 CHD7 HABP2 SAA1 CP BRAF LRBA MT-ND4 TTC7A NSDHL MLH3 MSH2 MSH3 TSHR NKX2-5 HPD TCF4 MT-TQ POLR1D AKT1 DCLRE1C HESX1 PLCG2 DUOX2 CACNA1C SETBP1 RAI1 TF CEP57 MRAP PTCH1 SEMA3E XRCC4 FOXI1 WDR4 SUGCT MT-TW DICER1 SIX3 WRN GAS1 FASLG MT-CO3 PAX8 TREX1 SRGAP1 BUB3 TSHB MARS1 ARVCF FLCN WFS1 TGIF1 MST1 FANCI SOX3 IQSEC2 SKI SDHC UBR1 HRAS B3GLCT TBX2 RNASEH2B FGF8 SEMA3D DCAF17 SRD5A3 SUFU ALX4 CDON GNE PMM2 GTF2IRD1 UFD1 ROBO1 GDNF SLC26A4 CDKN2C MT-TH TDGF1 NF2 EFEMP2 STAR SCN4A PROP1 SPIB RFC2 GPC1 SMO POU1F1 LHX4 SGPL1 HBB TONSL STEAP3 FOXP1 GPR161 ARNT2 POU3F4 BAP1 DEAF1 KISS1R NLRP1 MMP2 CLIP2 COMT SLC5A5 RMRP SKIV2L JMJD1C GLIS3 PLAA MT-TL2 GNAS TG CACNA1S ENPP1 APC DMPK HIRA LEP ADAR SIX1 IFIH1 MT-CO1 TBX1 SRY MSH6 PMS1 POLR1C POLG MT-ND5 LMNA SEC23B ITCH RBM28 PCSK1 MEN1 BUB1B TPO RET DNAH1 MT-ND6 PROKR2 LEPR ALMS1 PLVAP BMPR1A GREM1 FOXP3 GATA6 IL12RB1 NODAL TANGO2 PIK3C2A SEMA3C RNASEH2C C1S POLR3A PIEZO1 LHX3 MMEL1 RPS20 BUB1 PPP1R15B PTEN ABCC6 MT-CO2 DUOXA2 IRF5 IL2RA KCNJ18 PDE4D USP9X SEC24C CTNS BMP4 THRB FAS KIAA0556 DLL1 ALG8 DNM1L RCBTB1 SLC25A4 CDKN2B MT-TL1 HSD17B3 STAT1 RAG1 SDHD OPA1 PIK3CA KEAP1 KAT6B PMS2 CASR MT-TF NIN CTNNB1 APOE IDH2 HNF4A GLI3 SALL1 CDKN1B PRDM16 MSTO1 TBCK FBLN5 MALT1 MT-ND1 IGSF1 MCM8 RREB1 HNF1B TSC2 SAMHD1 KCNJ10 TRIP13 C1QBP EDN3 POMC ZFAT BCL10 ZIC2 TRMT10A RERE YY1 PRKAR1A IL7R PTRH2 MLXIPL TGFBR2 TRH BCOR NRAS TWNK EYA1 ACP5 DISP1 LIFR ADA CDH23 SEMA4A WDR11 POLG2 GCH1 BAZ1B PDGFB MT-TS2 CCBE1 TNPO3 TXNRD2 TRAF7 EXOSC2 CDKN1A GP1BB CLPB TRAPPC9 SLC12A3 FAN1 JAG1 DACT1 NNT TERT KLLN GATA1 ADAT3 SASH1 GTF2I IFNG EDNRB LRP4 MT-TN MC2R CLCNKB CTLA4 RASGRP1 NPHS1 SHH ZBTB20 AIRE TMEM67 POU2AF1 TCOF1 VPS13A BTNL2 SMARCB1 GLI2 THRA FOXA2 TBC1D24 ADAMTSL1 IL12A FOXD3 MLH1 FLII PHF21A IDH1 KRAS IL2RG IYD DDOST EXT2 DNAJC19 ECE1 ARL6IP6 TBL2 SDHB SLC6A17 GABRD USF3 STUB1 AIP NRTN ATRX RNASEH2A OTX2 HLA-DRB1 SMARCE1 EIF2AK3 TRHR TNFSF15 PRKCD KDM6A FGFR1 SLC16A2 FUCA1 GABRA3 FDX2 HP_DELAYED_PUBERTY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_PUBERTY RAB3GAP1 PHF6 RPS24 PGM1 GATA1 FGFR1 SLC25A13 FSHR STAT3 FSHB PNPLA6 POLR3A KISS1 MAP3K1 ZFPM2 CTNNB1 RPL5 WWOX PWAR1 YARS2 RAB3GAP2 NIPBL RPS26 RAI1 SPRY4 PROP1 SLC29A3 TACR3 FGF8 ATM WDR11 FGF17 HSD3B2 CHD7 GMNN SCARB2 RPL26 GLA PUS1 RPS29 DHX37 BRAF NR5A1 HS6ST1 PROK2 GHR ANOS1 SEMA3E IL17RD TBX3 NPAP1 NR0B1 CYP17A1 HESX1 RPS10 NLRP3 TAF13 SMC3 POMC GBA SLC37A4 TRMT10A BMP15 PTRH2 CYP11A1 COL7A1 SRY GNRHR SALL1 SMPD1 RAD21 RPS28 NDN RPL11 SOX3 PTPN11 CDH23 IQSEC2 RAB18 FLRT3 TBC1D20 KISS1R WFS1 CISD2 NDP CCDC141 CYB5A MMP1 GATA4 OCRL DCAF17 HERC2 ALX4 CDON ATAD3A MAGEL2 SMC1A NONO ROBO1 SLC12A3 NUP107 TRIP4 FAM111B SNORD115-1 ENTPD1 CUL4B NOTCH2 DACT1 RPS15A STAT1 LAS1L DCC POLR3B GPR161 SOX10 TAC3 PPP1R15B PROKR2 DEAF1 CLCNKB SNRPN LMNA POF1B LEPR MSMO1 VAMP7 RPL18 SPIDR G6PC POLR3H RPS27 RPS7 TSR2 RBM28 VPS13B GLI2 SOX9 DUSP6 MKRN3 FOXA2 WT1 HBB PCSK1 MEN1 FLII SETD5 ADA2 MAP3K7 PHF21A POR SNORD116-1 NSMF EXT2 FGD1 RPS17 IGFALS LHX4 RPL35 TGFB1 BNC1 RPL35A DMRT3 PWRN1 KMT2A INSR STUB1 RPL10 GHSR AIP RPL31 SEMA3A PYGL RPL15 USP9X PSMC3IP OTX2 GNRH1 RPS19 EIF2S3 CTNS ZMPSTE24 MRPS22 RPL27 HDAC8 ALDOA FEZF1 POU1F1 HP_HYPERINSULINEMIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINSULINEMIC_HYPOGLYCEMIA GLUD1 INSR APPL1 HADH PDX1 NEUROD1 PAX4 SLC16A1 ABCC8 UCP2 HNF1A MPI KCNJ11 HNF4A TRMT10A KLF11 GCK BLK MAFA MEN1 CDKN1B CDKN1A CEL CDKN2B CDKN2C INS HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND TBCE NKX2-1 CDC73 TSC2 LIG4 HBB GNAS ATP7B PIGT MT-TF MEN1 GNAS-AS1 CLCNKB HADHA IRX5 COMT IDH2 GATA3 AIRE ACTG2 CDKN1B CASR AP2S1 JMJD1C CHD7 VDR MT-ND1 MT-ND4 SLC26A4 DMPK PTH HIRA RREB1 GNA11 DGCR8 MT-CO1 TBX1 FLCN NSUN2 KCNJ10 MT-TW MT-TQ FAM111A MT-ND5 STX16 CYP27B1 MT-ND6 SEMA3E FOXI1 IDH1 ESS2 PRKAR1A GCM2 NF1 RET PDE4D TSC1 MT-CO3 DGCR2 ARVCF SLC12A1 PTH1R DGCR6 PRMT7 MT-CO2 MT-TS2 PTEN SEC24C TBX2 CYP2R1 OCRL HADHB COL4A5 CDKN1A GP1BB CDKN2B MT-TL1 UFD1 SLC12A3 CDKN2C MT-TH HP_HYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPARATHYROIDISM MT-ND6 TBCE NKX2-1 ESS2 GCM2 LIG4 HBB MT-CO3 ATP7B PIGT MT-TF DGCR2 ARVCF HADHA TBX1 IRX5 COMT PTH1R DGCR6 GATA3 AIRE MT-CO2 JMJD1C MT-TS2 SEC24C MT-ND1 MT-ND4 PTH HIRA TBX2 RREB1 DGCR8 MT-CO1 NSUN2 HADHB COL4A5 MT-TW GP1BB MT-TQ FAM111A MT-ND5 MT-TL1 UFD1 MT-TH HP_INSULIN_RESISTANT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANT_DIABETES_MELLITUS PLIN1 ABCC8 APPL1 LEPR PDX1 CIDEC HYMAI PAX4 LMNA INSR ZFP57 EIF2AK3 KCNJ11 GATA6 KLF11 PLAGL1 ZMPSTE24 HNF1A INS PPARG XRCC4 ALMS1 CEL GCK HNF4A AGPAT2 STAT3 NEUROD1 AKT2 BSCL2 LEP BLK DCAF17 LIPE PTF1A NSMCE2 PIK3R1 HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS CHEK2 KCNJ1 INSR STAR APC SDHB SDHAF2 VHL GNAS PEX16 NF1 SCNN1A MAP3K1 TBX19 ZFPM2 SIX3 CTNNB1 WWOX PWAR1 CLCNKA POLE SAMD9 IDH2 GLI3 CDKN1B CYP11B2 SCNN1B HSD3B2 TP53 PDE8B SAA1 TBCK PEX1 PIK3CA DHX37 BRAF SDHD PEX5 NSDHL PEX13 CYP11B1 PEX10 PEX11B PEX6 SDHC FH SEMA3E PEX26 LHX4 NPAP1 CHD7 MC2R WASHC5 POLR1D AKT1 NR0B1 ABCD1 CYP17A1 HESX1 CYP11A1 WNK1 POMC MEN1 PEX19 MRAP CLCNKB MCM4 PEX12 ANTXR2 KCNJ11 POR SRY KLHL3 CDKN1C SDHA BCOR ABCC8 LIPA NFKB2 PRKAR1A NDN EPAS1 CDH23 PEX2 WDR11 AAAS TXNRD2 PDGFB SLC25A11 WNT4 GK MDM2 ARMC5 TRAF7 IGF2 GATA4 OCRL HTR1A HERC2 SUFU CDON CDKN1A HSD17B4 MAGEL2 MRPS7 LMNA ROBO1 SLC12A3 CDKN2C NF2 SNORD115-1 CYP21A2 CUL3 PEX14 PROP1 BAP1 RET TERT SMO DLST SGPL1 HBB ZMPSTE24 STEAP3 GPR161 PTEN HYLS1 SNRPN SCNN1G VAMP7 AIRE TBC1D7 CACNA1S PRKACA WNK4 TCOF1 NNT RBM28 BTNL2 SMARCB1 CDKN2A SOX9 MKRN3 POLR1C WT1 TMEM127 TBC1D24 PCSK1 NR3C2 MDH2 SCN4A CCDC22 DNMT3A IDH1 PROKR2 WNT3 MKS1 SNORD116-1 PDE11A NR5A1 KCNE3 KCNQ1OT1 NR3C1 TCTN3 PEX3 MAX SLC12A1 DMRT3 KIF1B PWRN1 HSD11B2 AIP SLC26A3 CILK1 KCNJ5 GMPPA HLA-DRB1 TNXB KCNQ1 KCNJ10 SMARCE1 BMP4 IARS2 CACNA1D CDKN2B BSND TRAPPC11 USP8 HP_ADRENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPOPLASIA POLE CCDC22 CILK1 PROKR2 WDR11 MKS1 LMNA ZMPSTE24 CDKN1C TNXB GLI3 CYP11A1 NSDHL LHX4 BMP4 GPR161 TBX19 CDON SIX3 WASHC5 PEX1 NR0B1 HESX1 ROBO1 TBC1D7 POMC HP_HYPERTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTHYROIDISM MSTO1 JMJD1C KCNJ18 TWNK POLG2 SUGCT TBCK GNAS HLA-DRB1 CACNA1S TSHR SEC24C PIK3CA CDH23 AKT1 HIRA FOXP3 RREB1 BTNL2 PTEN POLR3A THRB GP1BB ARVCF CLCNKB SLC25A4 TBX1 UFD1 COMT SLC12A3 RRM2B POLG GABRA3 HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL TAF4B CBX2 BMP15 TEX15 NR5A1 ESR1 FSHR CYP11A1 WT1 XRCC2 SRY STAG3 LHCGR PPP2R3C POLA1 MAP3K1 AR ZFPM2 KISS1R BNC1 WWOX ZMYND15 NR0B1 DMRT3 SYCP3 SOHLH1 FANCM VAMP7 CYP17A1 NANOS1 HSD3B2 SPIDR POLR3H PSMC3IP NSMCE2 DHX37 ESR2 CDH23 MEIOB HSD17B4 MCM8 CYB5A TEX11 FMR1 GATA4 GDF9 ERCC6 CFTR MRPS22 HFM1 TEX14 SOX9 FOXL2 CNBP SYCE1 NUP107 TDRD9 DHH KLHL10 HP_PITUITARY_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_DWARFISM GH1 SOX3 GLI2 LHX4 LHX3 HESX1 PROP1 OTX2 FOXA2 POU1F1 HP_ADRENOGENITAL_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOGENITAL_SYNDROME CYP11B1 STAR HSD3B2 CYP17A1 CYP21A2 POR HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM SLC12A1 SCNN1B SLC26A3 CLCNKB SCNN1G KCNJ1 SCNN1A NR3C2 HP_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPARATHYROIDISM AP2S1 VDR FOXI1 CDC73 GNAS CASR SLC26A4 GCM2 RET DMPK GNA11 CYP2R1 OCRL MEN1 KCNJ10 CDKN1B CDKN1A SLC12A1 CDKN2B CDKN2C CYP27B1 ACTG2 HP_GROWTH_HORMONE_EXCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GROWTH_HORMONE_EXCESS AIP CDH23 GPR101 BSCL2 GNAS MEN1 FOS HPGD PRKAR1A CDKN1B AGPAT2 CAV1 CDKN1A PMM2 SLCO2A1 CDKN2B PPARG CAVIN1 CDKN2C HP_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_INSUFFICIENCY CYP11B2 STAR PEX14 PROP1 BAP1 PEX19 PEX11B TERT SMO SGPL1 HBB PEX16 STEAP3 MAP3K1 MC2R TBX19 ZFPM2 CTNNB1 PEX5 SNRPN WWOX PWAR1 SAMD9 VAMP7 PEX6 AIRE GLI3 HSD3B2 SAA1 TBCK PEX1 SCNN1B PIK3CA DHX37 BRAF AAAS PEX13 NNT RBM28 CYP11B1 PEX10 SMARCB1 PEX26 LHX4 SOX9 NPAP1 MKRN3 AKT1 NR0B1 ABCD1 CYP17A1 CYP11A1 WT1 PCSK1 MEN1 POMC NR3C2 MRAP MCM4 POR SNORD116-1 PEX12 NR5A1 KCNJ11 SRY NR3C1 TCTN3 BCOR ABCC8 PEX3 LIPA NFKB2 DMRT3 PWRN1 NDN HSD11B2 CDH23 AIP PEX2 TXNRD2 PDGFB GMPPA SMARCE1 GK IARS2 TRAF7 GATA4 HERC2 SUFU HSD17B4 MAGEL2 MRPS7 TRAPPC11 NF2 SNORD115-1 HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM CYP11B2 SCNN1B HSD3B2 SLC26A3 SLC12A3 CLCNKB SCNN1G KCNJ5 KCNJ1 INSR CYP11A1 KCNJ10 CYP11B1 SCNN1A NR3C2 AVPR2 CACNA1D HSD11B2 SLC12A1 CYP17A1 CASR MAGED2 HP_INCREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_RENIN_LEVEL CYP11B2 HSD3B2 SCNN1A SLC12A3 CLCNKB KCNJ1 INSR SLC12A1 SCNN1G CYP11A1 CASR KCNJ10 SCNN1B MAGED2 NR3C2 HP_ADRENOCORTICAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ABNORMALITY PRKAR1A PDE11A PRKACA GK PDE8B HP_CONGENITAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HYPOTHYROIDISM STAR MRAP KMT2D GLIS3 NKX2-1 NNT PLAA PDE4D PRKAR1A B3GLCT TONSL GATA6 TSHR TXNRD2 PAX8 NKX2-5 THRA MC2R DUOX2 TSHB TRAPPC9 FOXE1 TBC1D24 KDM6A ADAMTSL1 ZBTB20 HP_PSEUDOHYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOPARATHYROIDISM GNAS PRMT7 GNAS-AS1 PRKAR1A STX16 PDE4D HP_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOITER DNAH1 FOXE1 AKT1 FOXI1 PIK3CA IDH1 TWNK IYD SUGCT MINPP1 TG KLLN KEAP1 DICER1 SASH1 TPO NKX2-1 SDHB PAX8 PTEN SLC26A4 ALMS1 EYA1 MMP2 RET RRM2B IDH2 USF3 SLC5A5 POLG DUOXA2 MMP14 HABP2 SDHC POLG2 GNAS CACNA1S CDH23 TSHR KCNJ10 DUOX2 THRB SIX1 KCNJ18 RCBTB1 SEC23B SLC25A4 SDHD HP_THYROID_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_ADENOMA PRKAR1A CDC73 PTEN CASP10 CDKN1B CDKN1A FAS PRKCD PIK3CA CDKN2B MSH3 RASGRP1 AKT1 CDKN2C MEN1 FASLG HP_INSULIN_RESISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANCE IGF2BP2 PLIN1 CAV1 ABCC8 PDX1 BSCL2 SLC2A2 INSR HYMAI ADCY3 EIF2AK3 KLF11 PAX4 ZMPSTE24 PPARG XRCC4 ALMS1 PTPN1 KCNJ11 LMNA CLCNKB WFS1 HMGA1 GCK LIPE STAT3 ZFP57 PPP1R3A HSD3B2 TCF7L2 HNF1A DBH NEUROD1 AKT2 DMPK LEP BLK MTNR1B PTF1A PIK3R1 IRS2 INS CYP19A1 APPL1 LEPR CIDEC HSD11B1 WRN GATA6 POLD1 PLAGL1 LMNB2 IGF1 CEP19 CEL HNF4A AGPAT2 RETN ENPP1 LIPC NSMCE2 CAVIN1 GPD2 MFN2 FOS IRS1 DCAF17 HNF1B IGFALS SLC30A8 PMM2 MAPK8IP1 SLC12A3 HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS ZFP57 ABCC8 KCNJ11 APPL1 PDX1 NEUROD1 HYMAI PAX4 EIF2AK3 GATA6 KLF11 PLAGL1 BLK HNF1A INS GCK CEL PTF1A HNF4A STAT3 HP_IRREGULAR_MENSTRUATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_MENSTRUATION AIP CDH23 INHBA BSCL2 NR3C1 FOS CYB5A FMR1 ERCC8 PRKAR1A PPARG LMNA CYP11B1 ALMS1 AGPAT2 CAV1 FOXL2 GPR101 PDE4D CYP17A1 SETD2 ANTXR1 CAVIN1 MEN1 HP_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERALDOSTERONISM SCNN1B SLC26A3 CLCNKB KCNJ5 KCNJ1 INSR CYP11B2 KCNJ10 SCNN1G CYP11B1 SCNN1A NR3C2 CACNA1D OCRL TP53 SLC12A1 CLCNKA CYP17A1 BSND CYP11A1 SLC12A3 HP_CENTRAL_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_DIABETES_INSIPIDUS TP63 WFS1 BRAF AVP CTNNB1 SHH HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS TAF4B NKX2-1 SMARCAL1 GLI3 PDGFRB TMEM231 SOX3 TSC2 GH1 ESR1 FANCL AFF4 FSHR FSHB LHCGR EPCAM PNPLA6 EDA2R CTLA4 FOXH1 SIX3 PWAR1 BRIP1 TMEM138 FGF8 HSD3B2 GPR101 CHD7 GLI2 BTK BRAF NR5A1 MT-ATP8 MEIOB MLH3 MSH2 FMR1 TSHR ANOS1 ZSWIM6 GDF9 B9D1 AKT1 HESX1 CDH23 GAN DUOX2 KMT2A SLC35A2 SECISBP2 CEP57 PTCH1 SEMA3E BMP15 BSCL2 INPP5E WDR4 GNAS TCTN2 SLX4 FLNB WT1 GAS1 PAX8 CDKN1C SOX2 PITX2 RPGRIP1L ARL3 FANCA NFKB2 TGIF1 NDN FANCI TCTN1 AAAS FLRT3 XRCC2 KISS1R WFS1 FOS B3GLCT CCDC141 CYB5A HFE TBX2 DCAF17 HLA-DPB1 EDA UBE2T TP53 CFTR SRD5A3 AHI1 ARL13B TMEM216 SUFU HFM1 CDON AGPAT2 SRY MAGEL2 CEP104 HS6ST1 ROBO1 PPARG CDKN2C NUP107 FANCB TDGF1 NF2 KIAA0586 SNORD115-1 TMEM237 PROP1 RNF216 FANCM ERCC4 GPC1 SMO POU1F1 MEN1 LHX4 GANAB CC2D2A DCC STEAP3 GPR161 ARNT2 SOX10 POU3F4 ALX3 ARMC9 BAP1 SIN3A SNRPN FGFR1 SYCP3 VAMP7 POLR3H CEP120 PKD2 USP8 DMPK UCP2 LEP CEP41 BRCA2 ERCC6 MSH6 CDKN1B AIP PMS1 FOXL2 PKD1 RBM28 SYCE1 HBB BRCA1 PCSK1 PRTN3 CBX2 RNPC3 PROKR2 LEPR MAD2L2 SIX6 MED12 STX16 GATA6 FGF17 NODAL CAV1 AR POLR3A BNC1 LHX3 POLA1 PWRN1 RPS20 RFWD3 CYP17A1 POMC PIBF1 PSMC3IP SLC7A7 GMPPA EIF2S3 BMP4 COG2 TEX11 KIAA0556 CPLANE1 MRPS22 DLL1 SPRY4 PMM2 CDKN2B PALB2 TDRD9 OTX2 FANCE TEX15 PMS2 STAG3 MAP3K1 ALMS1 TBX19 ZFPM2 CTNNB1 WWOX SLCO2A1 IDH2 DMXL2 WDR11 MSTO1 TBCK GMNN PIK3CA DHX37 NPHP1 CSPP1 HSD17B4 MCM8 ZNF148 IL17RD FANCF NPAP1 WASHC5 SHH CYP11A1 TMCO1 ZIC2 KLHL10 FANCG YY1 PRKAR1A TMEM67 ANK1 KCNJ11 TGFBR2 PPP2R3C TRH ABCC8 FANCD2 APOA5 DISP1 PREPL POLE NANOS1 ADAT3 SEMA4A FOXE3 PDGFB NSMCE2 TRAF7 MKS1 GATA4 SLC29A3 HLA-DPA1 HERC2 CDKN1A CNBP NONO ERF CAVIN1 FAN1 ZNF423 RAD51 ADNP BICC1 STAT5B TERT RRM2B BMPR1A THOC2 TACR3 SOHLH1 PRLR IARS2 SPIDR SMC1A APC RAD51C PUF60 VPS13B SMARCB1 PTPN22 SOX9 CEP290 FOXC1 DUSP6 MKRN3 THRB MT-TL1 FOXA2 DHH MLH1 PROK2 AVP IDH1 KRAS POR SNORD116-1 NSMF MARS2 FANCC PDE4D TSC1 IGF2 TBCE ZMYND15 GHSR NR0B1 DMRT3 SEMA3A NDE1 ESR2 SMARCE1 HPGD TP63 CYP11B1 TEX14 HYLS1 TRAPPC11 TBX3 FEZF1 SLC16A2 HP_DECREASED_FERTILITY_IN_FEMALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_FEMALES CDH23 AIP BLM HSD3B2 CYP19A1 HUWE1 POR TUBB8 DHX37 BSCL2 NR5A1 CYB5A SRY GATA4 MAP3K1 CYP11B1 SOX9 FOXL2 ZFPM2 ZP2 PGR TLE6 WWOX CYP17A1 NR0B1 PANX1 WT1 DMRT3 AGPAT2 MEN1 VAMP7 GALT HP_SECONDARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_AMENORRHEA NOBOX BMP15 BSCL2 POLG EIF2B3 PSMD12 CHD7 EIF2B4 NR5A1 FGFR1 DIAPH2 FSHR WRN GNRHR WDR11 KISS1 TAC3 LMNA FOXL2 EIF2B1 PROKR2 ANOS1 CAV1 BNC1 SPRY4 TACR3 FGF17 SPIDR POLR3H PSMC3IP EIF2B5 GNRH1 FOS FIGLA BPTF EIF2B2 PROK2 ERAL1 FGF8 NSMF TKT PPARG ERCC6 MRPS22 AGPAT2 RCBTB1 HS6ST1 LHB KISS1R DUSP6 CAVIN1 NUP107 PAPSS2 HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION MSTO1 AIP BAP1 PDGFB GNAS PIK3CA TERT MEN1 SMO BRAF CDH23 SMARCE1 TRAF7 SMARCB1 SUFU POLR3A CTNNB1 PMM2 AKT1 NF2 PRLR HP_PANHYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOPITUITARISM KIAA0556 PTCH1 NODAL PROP1 DLL1 GLI2 FOXH1 GLI3 DISP1 CDON SHH SUFU TDGF1 SIX3 TGIF1 FGFR1 GAS1 SOX3 ZIC2 FGF8 HP_HASHIMOTO_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HASHIMOTO_THYROIDITIS PTEN DCLRE1C CTLA4 PLCG2 SLC12A3 TTC7A C1S TBX2 FOXD3 POLG SEC23B CLCNKB HP_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIABETES_INSIPIDUS AVP PROKR2 ARNT2 SOX3 PRPS1 BBS1 FGFR1 STRADA PTEN OTX2 GPR161 ARL6 ALX3 HESX1 ALMS1 CTLA4 SIX3 CTNNB1 CCDC28B AQP2 AVPR2 WFS1 PTPN22 WDR11 VPS33B GLI2 HLA-DRB1 GLA BRAF CISD2 LHX4 SOX2 AKT1 TP63 BTNL2 HLA-DPB1 OCRL HLA-DPA1 VIPAS39 CDON SHH CNOT1 ROBO1 PRTN3 HP_EPISODIC_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERTENSION TMEM127 SDHB RET MAX KIF1B GDNF SDHD VHL HP_OLIGOMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOMENORRHEA STUB1 PLIN1 BSCL2 GNAS SNORD116-1 CIDEC FANCM AKT2 FOS USP8 RNF216 FSHB MSH5 PPARG ERCC6 NR3C1 HERC2 AGPAT2 PRLR CAV1 H6PD AIP NPAP1 MKRN3 LIPE MAGEL2 SNRPN PWAR1 LHB CAVIN1 PWRN1 SNORD115-1 NDN CISD2 HP_INSULIN_RESISTANT_DIABETES_MELLITUS_AT_PUBERTY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANT_DIABETES_MELLITUS_AT_PUBERTY BSCL2 PLIN1 ZMPSTE24 AGPAT2 LMNA HP_11_PAIRS_OF_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_11_PAIRS_OF_RIBS SKI CHST3 B3GAT3 TBCK RERE NFASC KCNAB2 CENPJ SOX9 HDAC6 FLNB BMP2 CEP152 SNRPB SOX2 RPS19 GABRD DNMT3A TBC1D24 ATR GPX4 RNU4ATAC B3GALT6 LBR PRDM16 HP_SHORT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STERNUM RBM10 SETBP1 PCGF2 BUB1B NOG TMEM231 ARID1B NFIX NIPBL HP_THIN_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_RIBS LMOD3 LIFR CCDC8 TBCE OBSL1 CHRNA1 CHRND PPP3CA DNM2 NEB SEC24D MTM1 ACTA1 KLHL40 MTMR14 CHRNG ZMPSTE24 MYF6 P3H1 CUL7 COL11A1 TENT5A COL2A1 KLHL41 SCARF2 SERPINH1 SOX9 SKI TRPV6 HDAC6 WNT1 MUSK LMNA MAMLD1 AIFM1 POLR3A FAM111A EXOC6B RYR1 RTTN ORC1 BIN1 HP_PROMINENT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_STERNUM GATA6 AIFM1 BMP2 GALNS GLB1 DYM ARSB ZFPM2 WNT7A HP_BROAD_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_RIBS COL11A1 GNPTAB SETBP1 FBN1 PTDSS1 KCNJ8 XYLT1 COL11A2 NEK9 ADAMTS10 SOST ABCC9 ATP7A AMER1 COMP SERPINH1 ARSB WNT7A SMAD4 HP_CUPPED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_RIBS BGN CFAP410 COL2A1 SLC35D1 MATN3 DDR2 IHH AIFM1 COL11A1 SBDS ADA GPX4 PCYT1A B3GALT6 SRP54 MMP13 DNAJC21 INPPL1 HP_HORIZONTAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_RIBS CCDC8 DYNC2LI1 OBSL1 WDR34 CEP120 COL2A1 EVC EVC2 INTU NEK1 DYNC2H1 CUL7 IFT81 WDR35 HP_ABNORMALITY_OF_THE_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CLAVICLE PORCN TBCE SLC35D1 DYNC2LI1 DYNC2H1 HPGD B4GALT7 KIAA0586 SMARCC2 PCNT IFT172 INPPL1 HOXD13 ZMPSTE24 TWIST1 SALL4 SETBP1 SMARCD1 FGFR1 WDR34 CTSK LMNA PIGL MMP2 RNU4ATAC TBX5 AMER1 KIF7 PTEN IFT81 CHD4 GMNN CHRNG TNFRSF11A MMP14 BMPR1A LRP5 TCTEX1D2 ORC6 BANF1 RUNX2 WDR60 TRIP11 NSDHL SOX11 SCARF2 RSPO2 PAX1 PTDSS1 IFT140 NAA10 TBX3 ORC4 FGFR2 GJA1 DCHS1 SLC26A2 MSX2 ATP7A FIG4 ORC1 ALX4 IDUA SRCAP SOX4 BCOR MYSM1 COL11A1 TBX15 SUFU SMARCB1 CDT1 WNT7A FLNA ARID1A RBM8A SMARCE1 CDC45 EFNB1 NEK1 CDC6 VAC14 TRPV4 GLI3 CSPP1 BGN FKBP10 FGFR3 ARID2 INTU XYLT1 SMARCA4 WDR19 PTH1R FBXL3 FAT4 TNFRSF11B EYA1 SKI SOST IFT80 ANTXR1 DPF2 SH3PXD2B ARID1B CEP120 LBR TTC21B HP_LONG_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_CLAVICLES PCNT CSPP1 TBCE SETBP1 KIAA0586 COL11A1 TBX15 RNU4ATAC HPGD LBR CHRNG HP_CERVICAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_RIBS ANKRD11 SON GPC4 GPC3 RBM8A IFT57 RUNX2 PUF60 GATA6 HP_BIFID_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_RIBS PTCH2 GABRD KCNAB2 SKI TMCO1 PTCH1 SUFU RERE PRDM16 HP_SHORT_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CLAVICLES IDUA PORCN BGN SRCAP BMPR1A BCOR RUNX2 B4GALT7 XYLT1 TRIP11 FIG4 NSDHL FBXL3 HOXD13 MSX2 TWIST1 FAT4 LMNA DYNC2LI1 ZMPSTE24 RSPO2 FLNA FGFR2 NAA10 DCHS1 TBX5 TBX3 ATP7A PTEN ALX4 CHD4 HP_LATERAL_CLAVICLE_HOOK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATERAL_CLAVICLE_HOOK SLC35D1 WDR34 RBM8A TCTEX1D2 INTU NEK1 DYNC2H1 IFT172 WDR60 INPPL1 ORC1 SCARF2 IFT81 CDT1 SKI HP_RACHITIC_ROSARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RACHITIC_ROSARY PHEX CTNS ALPL CYP2R1 CYP27B1 HP_THICKENED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_RIBS GLB1 NAGLU SGSH MAN2B1 SOST HGSNAT GNS HP_RIB_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_FUSION DLL3 RIPPLY2 FGFRL1 NXN SKI TMCO1 CTBP1 NSD2 RERE TBX6 SIX6 MESP2 KCNAB2 GLI3 MAP3K7 RECQL4 CHRNG NELFA LETM1 ANKRD11 ROR2 HES7 SOX2 LFNG CPLX1 SON GABRD ACTB COG1 MYH3 PRDM16 HP_FLARING_OF_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARING_OF_RIB_CAGE RMRP B3GALT6 GALNS GLB1 DYM HP_ANTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_RIB_CUPPING AIFM1 COL11A1 CFAP410 COL2A1 SBDS ADA SLC35D1 SRP54 DNAJC21 INPPL1 DDR2 HP_SPRENGEL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPRENGEL_ANOMALY EFNB1 PAX3 TBX5 TMCO1 NPR2 HSPG2 SEPTIN9 RAF1 PTCH1 TBX2 EMD GDF6 SF3B4 FHL1 GDF3 LMNA MEOX1 BRAF TMEM43 RPL11 TBX3 PTPN11 PTCH2 SUFU COL3A1 SYNE2 SYNE1 HP_SHIELD_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHIELD_CHEST MAP2K1 FUCA1 BRAF PTPN11 CILK1 WNT4 CHST3 XYLT2 POP1 TRAPPC2 DYM HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM NF1 MAP2K1 SOS1 PTPN11 BRAF HP_BROAD_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CLAVICLES MYSM1 TRIP11 MMP2 MMP14 SOST PTDSS1 PTH1R ATP7A SH3PXD2B WNT7A HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION FGFR3 NOG CYP2R1 ALPL DDR2 VDR PHEX SBDS SLC34A3 CTNS CYP27B1 SRP54 DYM DNAJC21 HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION SBDS SLC34A3 NOG CYP27B1 CYP2R1 SRP54 DYM DNAJC21 HP_MISSING_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISSING_RIBS RSPO2 PTPN11 BMPER SKI CCDC22 WNT3 VANGL1 CHST3 FUZ B3GAT3 TBCK RERE TBX6 FBN1 SIX6 NFASC KCNAB2 FLI1 CENPJ SOX9 MYF5 ROR2 HDAC6 SOX2 FLNB BMP2 CEP152 SNRPB WASHC5 HES7 RPS19 GABRD DNMT3A TBC1D24 ATR GPX4 RNU4ATAC B3GALT6 LBR PRDM16 HP_POSTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_RIB_CUPPING BGN COL11A1 MATN3 INPPL1 DDR2 HP_BEADED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEADED_RIBS CREB3L1 TRIP11 COL1A2 TAPT1 COL1A1 PPIB HP_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYSPONDYLY CCN6 ABCC9 LOXL3 RSPRY1 FGFR3 SMARCAL1 GLB1 COL9A3 FKBP10 TRAPPC2 EIF2AK3 COL1A1 COMP TONSL PTH1R SLC39A13 IDH1 PAM16 LTBP3 OCRL SLC26A2 CSF1R FLNB MATN3 COL2A1 EXTL3 PLOD2 GORAB EXOC6B GPX4 RNU4ATAC B3GALT6 SPARC COG4 COL9A1 FUCA1 SMAD4 LRP5 DYM HSPG2 IFT43 SLC29A3 PPIB COL1A2 COL11A2 ACAN NANS RUNX2 DDRGK1 KCNJ8 FGFR1 HDAC6 DDR2 KIF22 PCYT1A TRPV4 ATP7A MMP13 SFRP4 CANT1 LBR RAB33B GALNS RMRP P3H1 COL11A1 SLC25A24 MAN2B1 TRIP11 IDH2 SERPINH1 INPPL1 FLNA CFAP410 AGA MIR140 DHX37 WNT1 ALPL NEK1 MBTPS2 ACP5 AIFM1 COL9A2 XYLT2 SGMS2 LFNG KLHL7 COL10A1 TCIRG1 UFSP2 BGN SEC24D XYLT1 IFITM5 TNFRSF11A ASXL1 BMP1 TAPT1 PLOD3 PMM2 ADA RPL13 GUSB PYCR1 PAPSS2 HP_ABNORMALITY_OF_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MATURATION CTBP1 PDGFRB LIMK1 FMR1 MPLKIP B4GALT7 GH1 FGFR1 MMP13 ESR1 INPPL1 ARID1B FSHR FSHB MAP3K7 LTBP3 GPC3 KISS1 RRAS2 ELN KRAS ATR CYP19A1 DYNC2LI1 SPRY4 TACR3 FGF8 NSD1 FGFRL1 FGF17 HSD3B2 GPR101 GJA1 KMT2A SHOC2 ORC6 BTK NR5A1 MT-ATP8 ACAN XPC GHR ANOS1 EVC FAM111A TAF13 SLC7A7 IGF2 SHANK3 GBA RNF113A ATRX SECISBP2 CEP57 SRCAP BMP15 BSCL2 WDR4 MRAS HSD11B1 GPC4 INSR NFIX TAB2 GNRHR MALT1 DVL1 WDR11 SMARCB1 PAX8 ROR2 CDKN1C AGA RAD21 CEP152 CKAP2L TRPV4 H1-4 EXT1 BRF1 SOX3 FLRT3 EVC2 UBR1 KISS1R FOS CCDC141 CYB5A SUZ12 DCAF17 WNT5A AGPAT2 DPP6 HSD17B4 COMP SMC1A PEX1 HS6ST1 GTF2IRD1 PPARG SOS2 LETM1 NUP107 TBCE RFC2 MEN1 RNF13 TONSL SRP54 DCC EP300 SOX10 POU3F4 NSD2 PROKR2 EXTL3 CUL7 PDE4D CLIP2 MSMO1 HESX1 VAMP7 GMNN ERCC3 POLR3H PCGF2 LEP PTH1R NELFA SRY PAX1 NPR2 PTDSS1 CPLX1 NSUN2 AIP CREBBP SBDS RBM28 DUSP6 PIK3R1 PCSK1 SOS1 EZH2 RNPC3 TARS1 LEPR B3GAT3 CHD7 DDB2 SLC25A24 NBAS PLK4 GDF5 MVK KCNQ1OT1 RMRP RAF1 LHX4 PIK3C2A CAV1 CDC45 BNC1 CDC6 ERCC2 POLA1 PPP1R15B HUWE1 CYP17A1 TRPS1 PIGT GHSR BLM RIT1 TRAIP PSMC3IP IHH KCNQ1 CTNS IGF1R EYA1 NSMF PRKAR1A MRPS22 ERCC4 NR2F1 ITGB6 XYLT1 HDAC8 POU1F1 ABCC9 CCDC8 RSPRY1 SLC35D1 PPP1CB ARID1A NGLY1 LSS SPRTN LHCGR A2ML1 MAP3K1 ERCC5 RPS6KA3 ALMS1 NIN ZFPM2 WWOX COL2A1 SLC10A7 RNU4ATAC NIPBL GTF2H5 PROP1 SLC29A3 ENPP1 MSTO1 HSPG2 TBCK SCARB2 DHX37 CANT1 SMARCA2 PROK2 ALDH18A1 CYP11B1 IL17RD TSHR LONP1 BMP2 PEX6 MC2R SMC3 POMC GTF2E2 GLI3 FBN1 ALG9 FARSB IGF1 DONSON GJB2 CYP11A1 IFT57 EED PPP2R3C TRH SMPD1 KCNJ2 APC2 ORC1 MBTPS2 NEU1 AIFM1 TP53 NRAS MECP2 OBSL1 PCNT BAZ1B GJB6 CCBE1 CBL GATA4 DVL3 CAVIN1 CENPE CHST3 TET3 RRM2B LIG4 GTF2I XPA STAT1 PAM16 PTEN TAC3 HRAS RASA2 KIF15 ATRIP BRAF ANTXR1 ZBTB16 TMEM67 PTCH1 SPIDR DNAJC21 COX4I2 CENPJ GLI1 GLI2 THRA SOX9 ANKRD11 KCNJ8 ORC4 MT-TL1 ARCN1 FOXA2 WT1 POP1 CD96 SETD5 LZTR1 PTPN11 CHP1 POR DDOST GPX4 ASXL2 CDT1 TBL2 RNF135 AHSG RBBP8 FLNB NR0B1 DMRT3 SMARCA4 SEMA3A OTX2 GNRH1 RRAS EIF2AK3 MKRN3 SOHLH1 IGFALS SETD2 MCM9 FEZF1 EFL1 FLNA HP_CHONDROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROCALCINOSIS GCM2 ATP7B TNFRSF11B AP2S1 FXYD2 ALPL SLC12A3 MEN1 CDC73 KCNJ1 PDGFRB ANKH CLCNKB SLC12A1 LMNA NOTCH3 HFE WRN ATP7A GNA11 HP_THICKENED_CORTEX_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CORTEX_OF_LONG_BONES LIFR SETBP1 LRP5 COL1A1 TGFB1 FAM111A SOST TBCE MAN2B1 ANO5 HP_OSTEOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPENIA RSPRY1 SMARCAL1 SLC34A1 PDGFRB LIMK1 KCNJ1 MPLKIP MTAP B4GALT7 FGFR1 ESR1 FBN2 FSHR KISS1 ELN KRAS DPM2 PWAR1 GPR35 GTF2H5 SPRY4 PROP1 STAT3 TACR3 SLC9A3R1 FUT8 FGF17 MMP14 PLS3 ALDH18A1 SCARB2 NR5A1 PLOD2 UROS FKBP14 AEBP1 PROK2 SMARCD2 SLC39A8 NPAP1 TCF4 ADAMTS2 DCHS1 MAN2B1 COL1A1 GTF2E2 RNF113A PSAP SLC35A2 MMP2 CYP19A1 BMP15 FARSB BSCL2 MBTPS2 IGF1 ADCY10 COG1 GPAA1 P3H1 ANTXR2 GCM2 MLXIPL GNRHR LMNA WDR11 EED NRAS SMPD1 SKI UNC80 ANOS1 PSMB8 SLC39A13 GZF1 GNPAT MST1 NDN LIFR POLE SOX3 CDH23 GEMIN4 PHGDH BAZ1B TAF1 SEC24D CREB3L1 FOS IL17RD MMP1 GNPTAB CRTAP LRP5 ATP7A DCAF17 HERC2 MEN1 AGPAT2 GBA IER3IP1 ADAMTSL2 HSD17B4 PLOD3 MAGEL2 PMM2 HS6ST1 GNAS GTF2IRD1 P4HB PPARG CAVIN1 NUP107 XYLT2 SNORD115-1 CTC1 SH3PXD2B GFI1 PIGY NOTCH2 CHST3 RFC2 HPGD ELANE SLC17A5 SRP54 HBB GTF2I TONSL STAT1 STN1 TRPV6 TAC3 PIGT PROKR2 SNRPN FLRT3 BRAF CLIP2 RNU4ATAC IRX5 GORAB SEC23A KISS1R TMEM67 PRKACA GLIS3 SPIDR HESX1 ERCC3 DNAJC21 POLR3H HRAS COX4I2 MAFB ATP6V0A2 TRPS1 RNF125 GLI2 CRIPT CCND1 MKRN3 SBDS ERCC2 DUSP6 PRKAR1A FOXA2 FKBP10 ANO5 PYCR1 TCIRG1 AVP TARS1 B3GAT3 SNORD116-1 NAGA CHD7 DDOST ZMPSTE24 MGAT2 FAT4 PLEKHM1 SERPINH1 TBL2 CTCF LHX4 PRLR CAV1 POLR3A BNC1 SLC12A1 HECW2 RECQL4 PWRN1 SGMS2 PTH1R AIP PYGL CDC73 PDE11A USP9X PSMC3IP SLC7A7 OTX2 FBN1 GNRH1 IFITM5 IARS2 EIF2AK3 PSAT1 FGF8 NPR2 NSMF TAPT1 FGFR2 MRPS22 RPL11 COL7A1 GATA1 POU1F1 TMEM38B EFL1 HP_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPOROSIS CCN6 ABCC9 SMS LIFR CBL SLC34A1 PRDM5 LIMK1 FGFR1 WDR35 ESR1 NSMF NOP10 GNAS TERT FSHR EIF2AK3 RAB3GAP1 WRN KISS1 MAP3K1 ELN ZFPM2 PLOD2 WWOX PWAR1 PCCB SLCO2A1 NDUFAF1 RRM2B GPR35 B3GALT6 COL1A1 LAMA3 WRAP53 SPRY4 PROP1 TACR3 SLC9A3R1 HAMP TNFRSF11A FGF17 MMP14 HSD3B2 IFT122 PLS3 PLOD1 MTRR BANF1 HSPG2 TBCK HFE FBLN5 FKBP10 NHP2 DHX37 NFIX NR5A1 HSD17B4 RUNX2 WNT1 PROK2 ATP7A LRP6 NPAP1 AKR1D1 TCF4 RUNX1 CYP17A1 FAT4 ALB SLC7A7 MMP2 TONSL AR CYP19A1 BMP15 BSCL2 GALNS ZNF469 ADCY10 GPAA1 PCCA ANTXR2 CYP11A1 MLXIPL GLB1 SRY GNRHR TINF2 MALT1 GCM2 WDR11 LETM1 CYP27A1 PEX12 SMPD1 IGF1 ANOS1 PDE8B TMEM165 PRKAR1A AEBP1 MST1 NDN POLG SOX3 CDH23 LAMB3 PHGDH POLG2 BAZ1B RTEL1 FOS TENT5A WNT3A IL17RD GK CYB5A ASXL1 CDC73 MMP1 TNPO3 TNFRSF11B ARMC5 GATA4 LRP5 BMP1 HERC2 MEN1 AGPAT2 MAGEL2 HSD3B7 HS6ST1 GTF2IRD1 ADAMTS2 PPARG DKK1 CAVIN1 NUP107 SRC SNORD115-1 CTC1 SH3PXD2B PYCR1 EFEMP2 NOTCH2 COL1A2 SPIB CHST3 TWNK RFC2 HPGD ERCC6 SC5D HBB GTF2I STAT1 WDR19 TET2 IFT52 ATP7B TAC3 PROKR2 SNRPN FLRT3 HJV LMNA POF1B CLIP2 RNU4ATAC GORAB NPM1 ZBTB20 SLC37A4 SPARC VAMP7 PRKACA SPIDR G6PC POU2AF1 HESX1 CBS POLR3H IFT43 USP8 DKC1 TRMT10A LAMC2 TGFBR2 NELFA GLI2 SOX9 KCNJ8 MKRN3 DUSP6 FOXA2 IFIH1 WT1 TERC IL12A VPS53 SRSF2 NSD2 B3GAT3 POR SNORD116-1 CTDP1 BMP2 CALCR CHD7 SMAD3 PDE11A PARN ASXL2 IL12RB1 TBL2 POLD1 SP7 RIN2 LHX4 PRLR CAV1 AIP PDLIM4 BNC1 CANT1 NR0B1 DMRT3 MMEL1 PWRN1 XYLT2 SGMS2 PIGT GALT RPL10 PYGL IRF5 PSMC3IP OTX2 NGLY1 COL2A1 GNRH1 ESR2 SLC25A19 PSAT1 FGF8 USB1 ZMPSTE24 MRPS22 CYP11B1 RPL11 TNFSF15 PMM2 SLC25A4 RECQL4 COL7A1 KISS1R TRIP11 POU1F1 ASAH1 HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY SHOX POLR1A NPR2 LIMK1 MTAP B4GALT7 KIF7 WDR35 MMP13 INPPL1 COMP CLCN5 SOX9 LMBR1 MAP3K7 ELN FLNB SOST PWAR1 CEP55 DYNC2LI1 NSD1 BPNT2 IFT122 LRP5 HSPG2 CHST3 CC2D2A FKBP10 COL11A2 ACAN NEB EXT1 ATP7A EVC TNFSF11 FGFR1 GJA1 FAM111A ORC6 FIBP PCYT1A COL1A1 GAN CYP27B1 SETBP1 RPGRIP1 RAB33B CA2 FGFR3 ESCO2 NF1 MAN2B1 GLB1 BCOR FAM20C BRAF MATN3 COL2A1 SKI MCTP2 CEP290 ANTXR2 COL11A1 ATRX COL9A2 MMP9 WDR60 TRPV4 NDN MAPK1 B9D1 ARSB RAB23 EVC2 TMEM67 TENT5A PUS3 CLCN7 TNFRSF11B WNT7A CRTAP OCRL TNFRSF11A MAGEL2 GTF2IRD1 HS6ST1 TMEM216 COL10A1 GDF5 MEGF8 SNORD115-1 CTC1 SH3PXD2B PHEX RFC2 TONSL FGFR2 SNRPN B2M CLIP2 GORAB POR WDPCP BMPR1B TPM2 VDR ATP6V0A2 FLNA ENPP1 BCR PTDSS1 DDR2 COL1A2 UGP2 KIF22 HBB PYCR1 CSPP1 DYM IDUA TCTN2 GNPTG RMRP MKS1 B3GAT3 STX16 VPS13B DDRGK1 TCTN3 TGFB1 POLR3A ALPL PWRN1 CFL2 TRPS1 UFSP2 PTPN11 RUNX2 IHH CDC45 XYLT1 DYNC2H1 FN1 CTNS TMEM107 LRP4 ANO5 TMEM38B P4HB CCN6 LIFR RSPRY1 SLC35D1 KLHL41 ACTA1 GLI1 IFT172 EIF2AK3 RECQL4 RBM8A RPS6KA3 GUSB PLOD2 SLCO2A1 TBXAS1 SLC10A7 RNU4ATAC B3GALT6 GLI3 TUBB3 LMOD3 CYP2R1 SCARF2 LONP1 NPAP1 GPR101 SLC26A2 FIG4 SFRP4 CANT1 CYP19A1 GALNS P3H1 GNAS KRAS IFT57 TRIP11 AIP RPGRIP1L APC2 TMEM165 EXT2 TCIRG1 MAP2K1 BAZ1B COL9A1 SNX10 PTH1R SHH BHLHA9 SMOC1 HERC2 NEK8 EFL1 DMP1 RPL13 LBR LOXL3 NOTCH2 COL9A3 PCNT GTF2I WDR19 IFT52 TRPV6 EHHADH MAP2K2 B9D2 CRKL COG5 ZBTB20 IARS2 CBS IFT43 NFIX RSPO2 SPART MKRN3 SEC24D NKX3-2 IFIH1 CLTCL1 ORC1 C12orf57 SNORD116-1 SERPINH1 TBL2 PEPD VAC14 SGMS2 HOXA11 BGN TMEM231 FBN1 HPGD SETD2 TBCE SLC34A3 PAPSS2 HP_DYSOSTOSIS_MULTIPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSOSTOSIS_MULTIPLEX IDUA VPS33A FUCA1 GNPTG SUMF1 GNE KRAS GNS FGFR1 NAGLU SGSH NEU1 MAN2B1 GNPTAB AGA HGSNAT IDS CTSA GUSB ARSB HP_ABNORMALITY_OF_THE_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METAPHYSIS CCN6 ABCC9 LIFR CCDC8 SLC35D1 FGFR3 DYNC2LI1 TCIRG1 ACSL4 MTAP AMMECR1 WDR35 MMP13 AIFM1 INPPL1 IFT80 COMP PTH1R CLCN5 GPC6 MAP3K7 TP53 SETBP1 SLC26A2 CASR CSF1R OSTM1 COL2A1 POLE PORCN RNU4ATAC B3GALT6 AMER1 COG4 RAG2 IFT122 CENPE HSPG2 CYP2R1 DYM WDR60 COL11A2 TRIP11 CANT1 EXT1 RUNX2 ATP7A DDRGK1 EXOC6B LONP1 IFT140 IFT172 WDR26 HDAC6 GJA1 RSPRY1 PCYT1A CYP27B1 FIG4 BMPR1B SFRP4 MMP2 SHOX TONSL VDR RAB33B LIG4 GALNS TRPV4 RMRP LMBR1 IL7R GNAS GLB1 CDKN1C SKI MIR140 TMEM165 ACP5 EXT2 KIAA0586 SLC39A13 MMP9 RB1 COL10A1 FN1 ARSB PEX7 ADA PTDSS1 OBSL1 TNFSF11 EXTL3 NSMCE2 SNX10 WDR19 CLCN7 GNPTAB LRP5 OCRL DCLRE1C ANKH EFL1 SBDS RPL13 FLNA ERCC1 CTC1 SH3PXD2B LBR TTC21B DYNC2H1 CHEK2 CHST3 PHEX LPIN2 PCNT SLC17A5 PTPN11 KIF22 SRP54 IDH1 IFT52 PAM16 KCNE5 MATN3 LMNA PLEKHM1 FAM111A GPX4 PEX5 SMAD4 NPR2 EZH2 DNAJC21 PDGFRB SLC29A3 ACVR1 NOTCH3 IFT43 NANS NR5A1 KCNJ8 SEC24D DDR2 ARCN1 NKX3-2 WDR34 CHD7 POP1 ALG9 NSD1 XYLT1 COL11A1 IL2RG B3GAT3 CUL7 PITX1 STX16 IDH2 SIK3 CFAP410 ACAN SUZ12 ALPL VAC14 UFSP2 CSPP1 BGN LEMD3 FBN1 CWC27 TNFRSF11A CTNS IARS2 EIF2AK3 TAPT1 ZMPSTE24 TBXAS1 TGFB1 ANTXR1 SLC34A3 EED RAG1 CEP120 P4HB HP_HYPOPLASTIC_ILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIA LIFR SLC35D1 FLNB RMRP FGFR3 PCNT ERCC6 GATA1 INPPL1 TRAPPC2 MAN2B1 TBX15 SOX9 FLNA EED EP300 HDAC6 DDRGK1 POLR3A COL2A1 COL11A1 RNU4ATAC B3GALT6 SLC26A2 IFT81 ARSB WDR19 RUNX2 CCBE1 COL11A2 ERCC8 WNT7A SMAD4 EXOC6B CREBBP EVC EVC2 NKX3-2 RPS19 IHH KAT6B PCYT1A POP1 EZH2 DYM HP_DUMBBELL_SHAPED_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUMBBELL_SHAPED_LONG_BONE COL2A1 SLC35D1 COL11A1 SLC26A2 INPPL1 HP_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JAUNDICE CASR UGT1A1 KMT2E LBR SPTB C15orf41 CPOX EPB42 PEX16 ATP11C KCNN4 COG7 TREX1 PARS2 TBX19 PRKAR1A EPB41 ABCC2 GPR35 RNU4ATAC HNF4A CPA1 PEX1 ABCB4 PEX5 PIEZO1 RHAG HESX1 ALDOB HBG2 ATP7A ABCB11 PEX6 SPINK1 HNF1B SAMHD1 PEX26 AKR1D1 ATP8B1 PALLD TCF4 CDKN2A LHX3 MPV17 GCLC PEX19 PRSS2 TTC37 NPC2 HSD3B7 PKLR PALB2 PEX10 DHFR OCLN PFKM ANK1 CASK CLDN1 KRAS SP110 ACADVL SMAD4 ACADL TPI1 BPGM MST1 PEX12 NKX2-5 SPTA1 CFTR NBAS VPS33B F5 CYP7B1 ABCD3 SLCO1B3 ATP6AP1 KRT8 NR1H4 ETFA TNPO3 RNASEH2B GYPC GLRX5 IER3IP1 DUOXA2 SLC25A13 SLC2A1 SLC26A4 PAX8 NPC1 SLC4A1 TSHR PEX14 JAG1 SPIB PRF1 GPC1 PROP1 PEX11B ETFB POU1F1 IL2RG LHX4 HBB TPO FLI1 TSHB DGUOK ATP7B GALK1 SLC30A10 SLCO1B1 SLC5A5 POLG2 SEC23B DCDC2 POU2AF1 RAB27A COX4I2 TFAM DUOX2 BRCA1 ADAR TP53 IFIH1 CTRC VIPAS39 PTPN3 PRSS1 IL12A CCDC115 SERPINA1 LPL G6PD IYD BRCA2 ETFDH PRPS1 PEX2 TG HMGCL SMPD1 IL12RB1 CTCF ADAMTS13 GPI RNASEH2C PEX13 KRT18 HK1 MMEL1 JAK2 GALT LIPA IRF5 RNASEH2A CDAN1 LYST PEX3 DPAGT1 TRMU EIF2AK3 PEPD TRHR GALE TNFSF15 AMACR ALDOA HP_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_SKIN SMS FANCE CYBA SMARCAL1 SDHB KIT LBR ABCB6 KRAS FANCL MVK NOP10 TERT PTEN STK11 RFWD3 PDGFRA MLH1 RPS27 MC1R MAPRE2 MYO5A ERCC5 SLC6A19 KRT5 BRIP1 COX7B C1R PORCN ATP6V1B2 WRAP53 SLC29A3 POFUT1 HAMP KRT14 INSR KCNH1 HSD3B2 GNA11 BANF1 LMNA HCCS HFE NHP2 SDHC UROS XPC SEC23A CYP11B1 GJB6 IL6 FANCF HRAS HMGA2 MC2R GPR101 NR0B1 ABCD1 CYP17A1 FERMT1 CYP11A1 GJA1 MSH2 PAX6 GPNMB ALAS2 CYBC1 FANCC MMP2 MRAP TP63 BLM CD28 FANCG GBA SLX4 ANTXR2 PIK3CA AIP TINF2 NRAS BRAF FANCI TNFRSF1A SLC40A1 FANCD2 NOD2 ACP5 PSMB8 FANCA DSTYK KDM6B IKBKG NCF4 FGFR1 UBE2A LYST PTPN11 TFR2 MAP2K1 CHN1 UROD AAAS TXNRD2 RTEL1 XRCC2 CTLA4 TNPO3 SALL4 LEMD3 COL3A1 UBE2T SRD5A3 APOE ACTB FANCB HGD RAD51 STAR PANK2 SPIB FANCM ERCC4 RIT1 PCNT RAF1 XPA NCF2 ERCC3 FGFR3 CARD14 MAP2K2 KCNN3 DNASE1L3 HJV CSTA ATP2A2 NPM1 GNAS C1S ST3GAL5 POU2AF1 OCA2 PDGFRB MAFB DKC1 APC NOTCH3 NNT RAD51C RBM28 BRCA2 AKT1 CDH23 BTNL2 CRIPT GJB4 JAK3 SASH1 GJB3 ACD BRCA1 TERC IL12A CASR HPS1 CYBB POR BMP2 MAD2L2 DDB2 PARN ANAPC1 IL12RB1 KITLG PRKAR1A KDSR MSH6 PMS2 ERCC2 MMEL1 POLH PIGN ALDH3A2 NCF1 IRF5 TGM5 SDHA CPOX TUBB GMPPA HLA-DRB1 GNAQ NDUFB11 ZMPSTE24 SPINK5 USB1 CTC1 TNFSF15 ADAR TNFRSF1B PALB2 POLA1 TRAPPC11 USP8 HP_SINGLE_TRANSVERSE_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_TRANSVERSE_PALMAR_CREASE RBM10 RPL10 TWIST1 LIFR GLE1 SLC16A2 CTBP1 RNU4ATAC BMPR1B PEX19 SMARCAD1 SMOC1 B4GALT7 SMARCC2 G6PC3 AMACR PEX14 KAT6B GATA1 ARID1B LMX1B TCF4 FOXP1 SMC3 SETBP1 EP300 SMARCD1 NUP188 NSD2 APC GDF5 THOC2 SIN3A FGF9 DDX11 FGFR3 TPM2 CHST3 ATR NIPBL MED25 PEX6 B3GLCT FGFR2 FGFRL1 EHMT1 PLAA RPS23 PIEZO2 PEX5 MYH3 SOX11 PEX13 PUF60 VPS13B CEP55 STXBP1 DIS3L2 NECTIN1 PEX10 PEX11B UBE3B TELO2 ADNP CPLX1 ROR2 CREBBP ANKRD11 RAB11B TCF12 FIG4 DPH1 PEX1 OFD1 SETD5 TFAP2A NXN PACS1 FGD1 SOX4 DLX4 PEX2 CKAP2L PEX12 PNPLA6 TNNT3 MED12 CTCF ESCO2 NBAS PPP2CA IFT57 SMARCB1 TGDS ARID1A PEPD RIN2 RAD21 MCTP2 IGF1 SMARCE1 PEX3 VAC14 KMT2A EXT1 TRPS1 BRF1 PIGS BHLHA9 NOG ARID2 EXTL3 HDAC4 TNNI2 NGLY1 UBR1 XYLT1 PEX26 CCBE1 SMARCA4 DPAGT1 UBA1 BMP4 NALCN DOCK6 TBX4 IFT122 SMC1A HDAC8 LETM1 STAG1 PEX16 RPS6KA3 DPF2 CD96 HP_ACANTHOSIS_NIGRICANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOSIS_NIGRICANS PLIN1 FGFR3 CYP19A1 XRCC4 CAV1 BSCL2 ALMS1 CIDEC INSR PSMB9 LMNA ESR1 HSD11B1 AFF4 AIP CLDN1 FGFR2 HRAS PPARG POLR3A AGPAT2 PSMB4 MC4R GPR101 ERF NSMCE2 CAVIN1 AKT2 FOS SPINK5 CUL4B ZMPSTE24 ELOVL1 JUP PEX6 LIPE PCSK1 POMC PEX1 HP_CAFE_AU_LAIT_SPOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAFE_AU_LAIT_SPOT KMT2D FANCE PIK3CA CEP57 FANCM ERCC4 FANCD2 VHL PCNT KLLN NF2 PLXND1 FANCL PTEN RAF1 PPP1CB RFWD3 IFNG MLH1 STEAP3 EP300 MAP2K2 MED12 SIN3A ESCO2 BRIP1 CIB1 TMEM127 MTOR SETBP1 ATM CBL PALB2 TTC37 TSC1 TP63 SKIV2L BRAF NRAS WASF1 NF1 GNAS APC GDNF RAD51C BRCA2 AKT1 SOX10 FANCF TSC2 SDHB CREBBP TRIP13 SEC23B TMC6 SPRED1 BRCA1 BUB1B MSH2 FANCC BLM SMARCAL1 FANCG MAD2L2 SLX4 TOP3A KRAS ABCB6 RBBP8 ARL6IP6 KDM5C KITLG PRKAR1A FANCI IGF1 BUB3 IGF2 PHIP MSH6 FANCA PMS2 RERE KDM6B BUB1 RET USF3 TMC8 PTPN11 MAP2K1 SDHC TWIST2 XRCC2 UBR1 NBN MEN1 CWC27 MAX MAN1B1 UBE2T KIF1B SDHD REV3L KDM6A FANCB IL7 RAD51 HP_DRY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_SKIN WNT10B MYSM1 NOTCH2 ERCC5 RIPK4 BAP1 SOX3 EDARADD MPLKIP CDKN2A CSTB PCNT ERCC6 TERT LIG4 RAF1 TWIST2 XPA TP63 ERCC3 ACD ALG11 PEX7 MAP2K2 ERCC4 KIF15 INSR FGFR1 NLRP1 CDK4 HESX1 RNU4ATAC NAGA ABCA1 RAG2 CYP4F22 PKP1 GTF2H5 PEX11B TTC37 RMRP FUCA1 SKIV2L EDA OSMR GNA11 WNT10A XPC KANSL1 ADAR ATP7A ERCC8 IFIH1 TGM1 UBE2A PRKD1 DOLK GJB4 ELOVL1 SAMHD1 THRA NSUN2 SLC5A5 ERCC2 EDAR GJB3 CHD7 MITF MPDU1 CLDN10 GTF2E2 GJA1 RNF113A CD28 CASR GPNMB GSN ARNT2 TARS1 IL2RG MC1R IFT43 ALOX12B GINS1 KIF11 PHYH IL7R DDOST DDB2 SULT2B1 MGMT TINF2 CST6 KRAS NIPAL4 ELOVL4 OTX2 PAX8 BRAF SMARCAD1 TREX1 PPP2R3C TRH KDSR PEPD RNASEH2C NOD2 TSHR ABCA12 POLH TRPM1 STS SLC39A4 CTLA4 ALDH3A2 ADA RNASEH2A MAP2K1 CDKN2B KYNU RNF168 PROKR2 TERF2IP CLDN1 OFD1 POT1 SOX2 RNASEH2B SPINK5 ALOXE3 MBTPS2 DCLRE1C TNFRSF1B LIPN TRIP4 RAG1 PAH SDR9C7 UVSSA HP_CYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOSIS GABRA1 MYO9A CHRND SCN2A SCN4A CYB5R3 RAPSN PCDH19 RBM10 MT-CYB ETHE1 ELP1 VAMP1 COL13A1 AGRN ENG SEPTIN9 COL1A1 SNAP25 CHAT MUSK MVK SLC25A3 TCF4 SCN9A CHRNE PAX3 TREX1 THPO SLC2A1 CYB5A SFTPB RNASEH2C SLC18A3 LMNA GABRG2 SLC25A20 MMP21 SFTPC ZIC3 CHRNB1 COL5A2 AGXT GJA1 GTPBP3 RNASEH2A DOK7 TMEM260 PUS3 ADAR PCK1 RNASEH2B HBG2 SCN1A IFIH1 COL5A1 AK9 SLC5A7 ZMPSTE24 ACVRL1 SAMHD1 SYT2 STXBP1 SH2B3 CHRNA1 PSAT1 SLC25A1 PRKAG2 SCN1B LRP4 CALR RPS6KA3 FUCA1 HP_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKERATOSIS KRT14 PDGFRB ELMO2 KLHL24 DSG1 INSR PSEN1 IL17F STS MYH7 PTEN KRT81 GJB2 LAMA3 RAF1 KRT1 TNNI3 MBTPS2 SDR9C7 LORICRIN KRT5 PKP1 KRT13 WRAP53 NRAS MVK DOLK DMD GLA NSDHL XPC SMARCAD1 SRD5A3 KRT9 COL17A1 HDAC6 GJA1 AP1B1 MCOLN1 NECTIN1 FHL2 KRT83 PLEC DIP2B ACTN2 KRT6B KRT16 ZC4H2 WRN KRT6C CERS3 COL6A3 BRAF DSP RSPO1 DES COL6A1 AQP5 LAMA4 ABCA12 TMPO TNNT2 ITGB4 KRT10 SDHC ATL3 AAAS GJB6 AP1S1 PIK3CA RHBDF2 VEGFC SERPINB7 FGFR2 ERCC2 TINF2 LMNA USB1 TPM1 TGM1 SLURP1 MYPN HAND2 FLT4 ZMPSTE24 ALOX12B CARD14 TRPV3 NEBL TAF1A NLRP1 RBM20 ATP2A2 COG6 PNPLA1 KRT86 COL12A1 WNT10A SOS2 COL7A1 CAP2 GJC2 AKT1 KDF1 GJB4 GJB3 DSC2 SEC23B DNAJC21 ECM1 KDSR TERT DDB2 SULT2B1 FKBP14 ANAPC1 ABCC9 IL17RA ELOVL4 RECQL4 ALDH3A2 LEMD3 NIPAL4 EXPH5 SERPINB8 GMPPA DSG2 LAMB3 ERCC4 MAP2K1 CTC1 KRT6A TNFRSF1B LIPN SDHD SNAP29 COL6A2 NAGA KRT17 IL17RC FKTN ANKRD1 NOP10 ADAM10 MYBPC3 ERCC5 TAZ TCAP SLCO2A1 PIGL RNU4ATAC CYP4F22 POFUT1 TXNRD2 DSG4 TRPM4 CTSC KANK2 KRT2 ENPP1 CDH3 GATAD1 PMVK VCL ADAMTS2 FERMT1 PRDM16 AAGAB TP63 GLS CD28 TNNC1 IKBKG KRAS TAT ALOXE3 NEU1 LAMC2 RTEL1 HLA-DRA CTLA4 SDHA PPCS PLN TRAF3IP2 TRIP4 TARS1 HPGD RIT1 KLLN BAG3 SASH1 XPA ERCC3 HRAS MAP2K2 CRYAB POMP PSEN2 ST14 NPM1 GRHL2 SCN5A TYR DDX58 GBA ACTC1 CAST CSTA JUP TERC MPDU1 NECTIN4 LDB3 COL14A1 PSENEN SGCD CSRP3 ATP2C1 PARN ZNF750 SDHB KITLG ERMARD PEPD TMPRSS6 IL1RN USF3 PERP NHP2 TTN CLEC7A MYH6 DKC1 POLA1 NEXN TRAPPC11 FUCA1 SOX18 HP_THIN_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_SKIN LIFR PORCN COL7A1 KDF1 MTAP EDAR GNAS TP63 PPP1CB COL1A1 EDARADD TWIST2 XPA SLC39A13 ERCC3 ERCC5 LMNA PYCR1 COL1A2 GORAB EDA PLOD1 PROS1 UROD USP8 XPC NFIX KRT2 PPOX CDH23 COL5A1 FLNA ARFGEF2 UBE3B PRKD1 PTDSS1 TRAF6 PRKAR1A PROC PIK3R1 ORC1 ALDH18A1 PDGFRB SMARCAD1 DDB2 PDE11A TMTC3 SOX18 PEPD AIP ARF1 PDE8B POLR3A TGFBR2 C1R ERCC2 PRKACA ERMARD COL5A2 CHUK ABL1 SLC2A10 CPOX TNXB ZMPSTE24 ARMC5 COL3A1 PPARG TGFBR1 ERCC4 NEDD4L MAP1B ADAMTS2 SATB2 B4GALT7 CTC1 HP_ECZEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMA MYSM1 RAC1 DOCK8 CYBA FOXP3 RNU4ATAC KDF1 MPLKIP HPGD RTTN EDAR WIPF1 LIG4 RBCK1 EDARADD STAT3 STAT1 NCF2 TP63 SUOX TRAF3IP2 WAS SCNN1A CARD14 DHCR7 NCF1 KRT9 CSTA PCCB SLCO2A1 BRAF FOXN1 FLI1 COMT CIB1 SCNN1G ZAP70 GTF2H5 JMJD1C EDA NOD2 HLCS GNA11 ERCC3 DNAJC21 TBCK KRT1 AUTS2 KANSL1 HIRA SMARCA2 BTD IL4R RREB1 COL5A1 SRD5A3 SHOC2 TBX1 TRAF6 NEK9 NSUN2 NCF4 LBR PGM3 SRP54 SBDS ERCC2 TMC6 CTLA4 HLA-DRB1 GTF2E2 RNF113A CASR CYBB CYBC1 ZNF341 MSN CD28 HSPA9 FECH TARS1 KRT16 GINS1 PCCA COL1A1 ZNF750 CD3G SIK3 NSMCE3 RBM8A ARVCF DDX41 MBTPS2 PIGA IL6ST PTPRC MORC2 TRPM1 MTHFD1 CARMIL2 TMC8 POLE COL5A2 FLG IL2RA TGM5 HLA-DQB1 PLA2G7 TAF1 HDAC4 PIK3CA SEC24C PAH CASP8 IL7R SPINK5 TKT MS4A2 IFIH1 PRMT7 GP1BB MCCC2 CARD11 TNFRSF1B UFD1 C5 SCNN1B SMARCC2 SLC30A2 EFL1 IL7 HP_CUTIS_MARMORATA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_MARMORATA SETD5 PIK3CA SOX4 DHCR7 ACTA2 HDAC8 NIPBL MYD88 DOCK6 SMARCC2 STING1 SMAD4 ARHGAP31 DLL4 LIG4 PRKG1 NFIX ARID1B GUCY1A1 EOGT ARL6IP6 SMARCB1 SMAD3 MFAP5 ARID1A PTEN SMC3 SMARCD1 TREX1 SOX18 ADA2 RAD21 RNASEH2C SMARCE1 AKT3 RNF113A DDX11 LOX TGFBR2 ELN KMT2A MYLK SMC1A AGXT ABL1 RNASEH2A TGFB3 RBPJ CBS ARID2 SMARCA4 PDSS1 NOTCH1 SOX11 ADAR RNASEH2B MAT2A IFIH1 FBN1 FTO PTDSS1 SAMHD1 NSUN2 TGFBR1 TGFB2 NFIA FOXE3 LARP7 MYH11 STAG1 RPS6KA3 DPF2 HP_HYPOHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOHIDROSIS ALOXE3 TP63 TGM1 EDARADD SMARCAD1 SHANK3 CRLF1 RIPK4 ARNT2 TRIP4 KDF1 SOX3 ELP1 LMNB1 CSTB PRDM12 EDAR STS GJB2 ADAT3 CST6 TSPEAR ELOVL4 NIPAL4 CERS3 OTX2 WNT10A EDA2R ALOX12B ZFHX2 CASK STIM1 MBTPS2 LMNA FGFR1 SOX10 COG6 PNPLA1 CLCF1 ST14 HESX1 GLA KRT14 LIFR SLC13A5 EDA GMPPA PROKR2 ROGDI ALX4 GJB6 GHR CTNS SOX2 COL11A1 NECTIN1 SCN9A HEXB ZMPSTE24 TRAF6 KCTD1 ARX NFKBIA POLA1 COQ2 ABCA12 FAM111B CLDN10 HP_PETECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETECHIAE ETHE1 JAK2 ZBTB16 WIPF1 GP1BA ITGA2B ITGB3 COL1A1 OCLN FCGR2C STAT5B PRKAR1A WAS GP1BB TREX1 NUMA1 NABP1 RARA ETV6 CLCN7 HOXA11 SAMD9 PML GFI1B COL5A2 GP9 GNA14 FERMT3 RAB27A STAT3 CALR MPL FIP1L1 CD109 GBA PEPD GATA1 COL5A1 TBL1XR1 NPM1 APOE BCOR USP18 TET2 IRF2BP2 ITGA2 HP_ECTODERMAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTODERMAL_DYSPLASIA EDARADD EDA ATP6V1B2 SMARCAD1 NLRP1 IFT43 ORAI1 GJB6 WNT10A KRT74 TP63 WDR19 CDH3 PKP1 NECTIN1 IKBKG MBTPS2 EVC EDAR IFT122 HOXC13 EVC2 KRT14 NFKBIA KRT85 NECTIN4 WDR35 HP_ANHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANHIDROSIS FUCA1 EDARADD EDA PERP NGF WNK1 KIF1A NGLY1 SPTLC2 ERCC6 TRPV3 NTRK1 ERCC8 RETREG1 PKP1 SCN9A MBTPS2 BCS1L TP63 EDAR NFKBIA COQ2 ITPR2 HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY ZMPSTE24 KDF1 CHUK EDA NFKBIA TBX3 TP63 LMNA HP_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_LAXA EFEMP2 FGFR3 CHST3 GSN LIMK1 RFC2 ATP6V1A SLC6A8 HPGD RIT1 ATP6V0A2 FBN1 GGCX GTF2I TWIST2 FGF20 ABCC6 HRAS ELN SPINT2 MAP2K2 RPS6KA3 ATP7A CLIP2 PYCR1 GORAB ANTXR1 GPX4 XYLT1 MRPS22 OSMR NPR2 EZH2 ALDH18A1 PLOD1 FBLN5 RIN2 AEBP1 CEP55 TBX15 SRD5A3 PTDSS1 NDUFB11 FOXC1 ADAMTS2 FLNA XYLT2 PITX2 SLC7A7 CD96 FIG4 NSD1 WDR35 ZNF469 MRPS16 CHST14 B3GAT3 IFT43 SLC2A10 SLC25A24 NBAS KRAS MLXIPL WDR19 TBL2 BRAF MEGF8 SUZ12 NAA10 KIAA0586 C1R VAC14 DSE EXT1 TRPS1 ATP6V1E1 CSPP1 MAP2K1 BCL11B BAZ1B FGFR2 MAN1B1 B3GALT6 LTBP4 PEX1 GTF2IRD1 EED B4GALT7 COL3A1 HP_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBLE_SKIN PAX2 FGFR3 PDGFRB FGD1 CHST14 CHST3 PRDM5 PLOD1 B3GAT3 ZNF469 YY1 INSR RIT1 RAF1 COL1A1 FKBP14 KRAS COL5A1 SLC39A13 MAP2K2 BRAF TGFB2 RIN2 SKI AKT3 COL1A2 PTPN11 TWIST2 COL12A1 C1R XYLT2 B3GALT6 AEBP1 DSE ABCC6 C1S GORAB COL5A2 SLC2A10 TNXB MAP2K1 ENPP1 FBN1 ALDH18A1 FBLN5 ATP7A FLNA FGFR2 EXOC6B FGF10 ADAMTS2 ANTXR1 SLC26A2 SLC7A7 B4GALT7 PUF60 PYCR1 HP_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHIDROSIS KRT14 SDHD CBL CRLF1 RET HPGD SCN11A VHL BIRC3 ELP1 KRT17 LAMA3 DLST JAK2 SDHB CTSB SDHAF2 MEN1 KRT16 NOP10 HNF1A CACNA1S KLC2 TET2 NF1 SLURP1 HINT1 SCN9A MLX KRT9 CLCNKB SLCO2A1 PHOX2B IL12B CLCF1 SPR TMEM127 NPM1 COL6A2 THPO WRAP53 RETREG1 DSG1 SLC18A2 GNA14 PLAA KRT6A WNK1 FOXP1 KIF1A SUCLG1 MALT1 WNT10A TRPV3 KRT1 UCP2 DKC1 HNF4A COL17A1 GDNF ALDOB HEXB SDHC FH JUP AIP PRNP EDN3 GPR101 RUNX1 COL6A1 TERC BCL10 MDH2 SRSF2 DNMT3A TERT BSCL2 KCNJ11 PARN TAT FLRT1 HMBS MAP2K2 COL6A3 SDHA HLA-B MBTPS2 ABCC8 CAV1 RSPO1 KRT5 MAX KIF1B IKBKG LIFR IGHMBP2 LAMB3 EPAS1 BLM PTPN22 LAMC2 KCNJ18 PERP ITGB4 NHP2 SLC25A11 DST RTEL1 ASCL1 NGLY1 KCNA1 FOS CDH23 MPL ASXL1 SERPINB7 CUL4B USB1 TP53 KRT6B AGPAT2 MAP2K1 TINF2 CTC1 PPARG CAVIN1 SLC12A3 NLRP3 DDC BRAF FUCA1 GABRA3 HP_ECZEMATOID_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMATOID_DERMATITIS NCF2 SLCO2A1 FLG CYBB HPGD CYBA ZAP70 FOXP3 NCF1 STAT3 HP_SOFT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_SKIN COL1A2 PAX2 KCNH1 MGP EDA ABL1 TNXB PLOD1 PRDM5 ZNF469 MTAP ELN TGFBR1 SLC2A10 MAN2B1 FKBP14 COL5A1 MLXIPL COL5A2 KIF22 KCNN3 COL1A1 ADAMTS2 XYLT1 SON SMAD3 COL12A1 C1R EFEMP2 ATP7A B3GALT6 SPARC ATP6V1B2 HP_BRUISING_SUSCEPTIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUISING_SUSCEPTIBILITY KRT14 MYH9 PRDM5 ATRX FANCD2 MTAP FANCE F7 WIPF1 COL3A1 CHST14 GNAS STAT5B PRKAR1A SLC39A13 SMAD3 TET2 MFAP5 TGFB3 TGFB2 CASP10 ATP7B COL1A2 NABP1 LOX ELN RASGRP1 VWF ETV6 PML WAS GFI1B GP1BA PRKACA PLOD1 DTNBP1 NBEAL2 F8 SCARB2 ENPP1 STAT3 ITGB3 P2RY12 HPS5 RIN2 USP8 NFIX FKBP14 AEBP1 GATA1 CDH23 COL5A1 FBN1 FLNA RUNX1 GGCX TBL1XR1 TGFBR1 F5 ADAMTS2 BCOR ITGA2B COL1A1 GATA2 TBXA2R ATP7A HPS3 SERPINF2 KRT5 HPS1 IRF2BP2 FANCC GSN PLEC HPS4 ACTA2 LMAN1 ZNF469 ZBTB16 F10 C1S SMAD4 SLC2A10 F2 PRKG1 FCGR2C FASLG SIK3 GP1BB TNFRSF1A AIP TGFBR2 FAS NUMA1 SLFN14 C1R RARA TCIRG1 MYLK DSE HBA1 ABCC6 LYST COL5A2 FANCA F13A1 GP9 TNFSF11 TNXB PDE11A SNX10 FIP1L1 PLAU ANKRD26 CLCN7 BLOC1S3 MAT2A ARMC5 F13B GBA MPL GP6 PLOD3 NPM1 PRKCD HPS6 FOXE3 MCFD2 MYH11 JAK2 HBA2 HP_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURPURA STIM1 ICOS C2 ETHE1 SBDS WIPF1 CD81 CHST14 NFKB1 STAT5B PRKAR1A MVK WAS ITGA2B TREX1 CTLA4 TERT NABP1 MS4A1 C4A COMT IFNG ETV6 ITGB3 SAMD9 PML ADA2 GP1BA GFI1B JMJD1C GNA14 FERMT3 RAB27A PRF1 MPL PROS1 STAT3 CALR P2RY12 PROC USP8 CD19 ORAI1 HIRA GBA RREB1 GATA1 COL5A1 GGCX CFH TBL1XR1 PTPN22 CFHR1 TNFRSF13B GP9 BCOR TBX1 TBXA2R PRTN3 USP18 IRF2BP2 TNFRSF13C ITGA2 SH2B3 MYD88 JAK2 ZBTB16 COL1A1 F2 OCLN FCGR2C ARL6IP6 NLRP3 GP1BB AIP TERC ARVCF NUMA1 ACP5 RARA CLCN7 HOXA11 TNFSF12 COL5A2 F13A1 TFR2 CR2 SEC24C NFKB2 FIP1L1 CD109 PEPD F13B HLA-DPB1 HLA-DPA1 GP6 PRKCD NPM1 APOE UFD1 CFHR3 TET2 HP_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALLOR SDHD RET FANCD2 RPS15A RPS24 FANCE SPTB C15orf41 GATA1 DLST KCNQ2 SDHB SDHAF2 EPB42 VHL HNF1A HBB AGBL5 KIF23 STEAP3 NF1 FDXR RPL5 EPB41 COL12A1 GABRA1 SLC4A1 PTS RPS26 RPL18 AIRE MMADHC KLHL7 KLF1 TRNT1 RPS27 MSTO1 RPS7 MPL RPL26 RPS29 CALR CACNA1H VPS13A PIEZO1 ALS2 TSR2 FH UCP2 HNF4A IFT43 SDHC ENG HBA2 STXBP1 PRPF6 JRK TNPO3 GABRB3 RPS10 TMEM127 GATA2 MEN1 SH2B3 ALAS2 FANCC MDH2 ACO2 ADA2 PCDH19 DNMT3A G6PD NRL MT-CYB MYD88 JAK2 HMGCL DHFR RPS17 IKBKG GABRG2 KCNJ11 WDR19 KIF5A CASK POMGNT1 SMAD4 SCN9A SDHA SPTA1 RPL35 HBA1 TMPRSS6 HBG2 ABCC8 SF3B1 RPS28 MAX MMACHC RAG2 RPL35A KIF1B TCIRG1 RAX2 FANCI TET2 PUS1 RPL11 EPAS1 RAG1 CDH23 AIP FANCA RPL31 RPL15 TNFSF11 PRPF4 HEXA HBG1 SLC25A11 LRAT SNX10 RPS19 HGSNAT TTC8 CLCN7 CACNA1A SCN1A SLC2A1 FBP1 SLC46A1 RPL27 ANK1 SLC19A2 ACAT1 SCN2A SCN1B PIGA OPA1 BMPR1A TMEM126A HP_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_KERATODERMA KRT14 PIK3CA SNAP29 KLHL24 DSG1 PSEN1 MYH7 FKTN ANKRD1 NOP10 NIPAL4 GJB2 LAMA3 RAF1 KRT1 MYBPC3 TAZ TNNI3 MBTPS2 TCAP SLCO2A1 LORICRIN PKP1 WRAP53 TXNRD2 DOLK TRPM4 DMD KANK2 KRT2 ENPP1 GJB6 GATAD1 GJA1 VCL MCOLN1 PRDM16 FHL2 KRT5 TP63 RHBDF2 ACTN2 TNNC1 SMARCAD1 KRT6B KRT16 AQP5 CTSC KRAS TAT KRT6C CERS3 ALOXE3 BRAF DSP RSPO1 DES LAMA4 TMPO TNNT2 COL17A1 MAP2K1 KRT10 SDHC AAAS RTEL1 PNPLA1 CTLA4 ABCA12 SERPINB7 FGFR2 SDHA SRD5A3 PPCS TINF2 PLN CYP4F22 TPM1 SLURP1 NLRP1 MYPN KLLN HAND2 BAG3 SASH1 ALOX12B CARD14 LAMC2 MAP2K2 TRPV3 CRYAB POMP NEBL PSEN2 KRT9 TAF1A RBM20 ATP2A2 NPM1 SCN5A KRT6A CAP2 ACTC1 CAST GJB4 CSTA JUP GJB3 DSC2 SEC23B KDSR TERC KRT83 CD28 AAGAB LDB3 AKT1 KRT17 TERT COL14A1 SGCD CSRP3 PARN ANAPC1 SDHB PEPD ABCC9 RECQL4 FERMT1 USF3 PTEN LEMD3 TGM1 PERP NHP2 GMPPA WNT10A HPGD DSG2 TTN USB1 LAMB3 CTC1 MYH6 DKC1 NEXN TRAPPC11 ITGB4 TNFRSF1B SDHD HP_SKIN_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_RASH ERCC5 SDHB KIT GLUL NLRC4 LBR FCGR2B HLCS SPTB IL17F IL17RC BLNK PSMB9 IL2RG EPB42 CTLA4 MVK LMBRD1 CD79A LYZ PDGFRA HLA-DRB1 CASP10 APOA1 SLC6A19 DNASE1L3 NCF1 RIPK1 IGHM STAT4 MIF STAT3 KRT5 COX4I2 ENPP1 SDHC IL6 BTNL2 GJB4 PTPN22 NAXD JAK3 ERCC2 CYBA GJB3 DCLRE1C ERCC3 NOD2 NLRP3 CD79B IGLL1 IRAK1 PRTN3 GJA1 SMARCAD1 RFXAP CD28 STING1 NCF2 LACC1 MEFV SLC4A1 KDSR POMP SPTA1 TNFRSF1A RFXANK DNASE1 IL17RA ZAP70 RAG2 TCF3 PSMB4 CYBB PIK3R1 CIITA IKBKG CDK10 ABCC6 RAG1 FGA SDHA TEK AK2 B2M TNFAIP3 BTK SPP1 SPINK5 HLA-DPB1 HLA-DPA1 ERCC4 TREX1 LRRC8A CLEC7A BTD RFX5 ANK1 TRAF3IP2 TNFRSF1B FCGR2A NLRP12 HP_PRURITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRURITUS MC1R ALOXE3 COL7A1 CCDC47 ATP8B1 CBL MVD SPIB LBR GPC1 SCN11A SULT2B1 IL17F IL17RC JAK2 FLI1 TET2 ALOX12B CARD14 ATP7B EPHX1 DNASE1L3 PDGFRA IL31RA ATP2A2 PNPLA1 GPR35 THPO RAG2 CYP4F22 PKP1 KIT FLG2 STAT3 RMRP OSMR DCDC2 POU2AF1 MVK FH ENPP1 TRPV3 BAAT STX3 SCN9A ABCB11 TGM1 PMVK TCF4 RUNX1 TJP2 PTPN3 CHD7 ABCA12 EPOR IL12A CD28 MYO5B GPNMB GSN ZNF341 SRSF2 LIG4 FECH IL2RG DSG4 IL7R AQP5 NIPAL4 CERS3 IL12RB1 ABCB4 PEPD IL17RA MMEL1 MST1 SLC17A9 FDPS CTLA4 ABCC6 LIPA ADA CDSN IRF5 HLA-DRA SCN10A MPL ASXL1 MMP1 TNPO3 NRAS CLEC7A TNFSF15 DCLRE1C HSD3B7 CYP7B1 TRAF3IP2 TNFRSF1B LIPN NLRP3 DSP RAG1 SDR9C7 HP_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHOMATOSIS SLC37A4 LPL PPP1R17 CYP27A1 G6PC APOA1 GPC1 KRAS PCSK9 LDLR LDLRAP1 FGFR1 APOB LIPC LMNA TTPA SMPD1 GHR PPARG ABCG8 ABCG5 ABCA1 APOA5 APOE APOA2 APOC2 EPHX2 HP_CUTANEOUS_PHOTOSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_PHOTOSENSITIVITY TYRP1 ERCC5 CYBA XPC MVD DHCR7 MPLKIP FCGR2B ERCC6 CPOX CTLA4 LIG4 HFE XPA NCF2 XRCC4 TP63 ERCC3 SCARB2 RORB PRICKLE1 SLC6A19 RNF113A SNRPN PWAR1 C4A ERCC2 GTF2H5 SAMHD1 ERCC1 DDB2 ALAS2 MVK EPM2A UROS NHLRC1 CLPX PCNA ERCC8 UROD PPOX CSTB GJB4 NSUN2 PMVK NPAP1 CHD2 MKRN3 GJB3 IFIH1 FERMT1 KRT1 GTF2E2 GJA1 CYBB CYBC1 BLM FECH TARS1 SNORD116-1 ERCC4 ABCB6 ANAPC1 KDSR PEPD DNASE1 RECQL4 PWRN1 POLH NDN NCF4 SLC17A9 FDPS NCF1 KRT10 PTPN22 NBN HERC2 TREX1 MAGEL2 FCGR2A GATA1 SNORD115-1 UVSSA HP_MOLLUSCOID_PSEUDOTUMORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLLUSCOID_PSEUDOTUMORS ZNF469 PLOD1 COL5A1 COL5A2 COL3A1 HP_MELANOCYTIC_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOCYTIC_NEVUS MC1R AKT1 LZTR1 NRAS PIK3CA SMARCAL1 PTPN11 KLLN MRAS DDB2 TYR RAF1 PTCH2 PTEN HRAS XPA A2ML1 FGFR2 ERCC3 SDHB EED SUFU RRAS2 ERCC5 BRAF RASA2 PRKAR1A PDE4D ERCC2 USF3 LYST KRAS TNFRSF11A RIT1 FKBP10 ERF SDHC FGFR3 CHRNA7 CBL XPC RRAS TNFRSF11B RBM28 PTCH1 SUZ12 CDH3 ERCC4 MPL SEC23B SOS2 IGF2 SOS1 TP63 COL3A1 SDHD HPS1 HP_FACIAL_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CAPILLARY_HEMANGIOMA ESCO2 GLI3 MGAT2 DHCR7 RECQL4 CD96 OFD1 HP_AXILLARY_FRECKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXILLARY_FRECKLING NF1 PMS2 SPRED1 MLH1 MSH2 MSH6 HP_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRICHOSIS SNX14 ABCC9 SMS CCDC47 NDUFS1 NDUFAF6 LIPT1 TRMT1 ARID1A INSR KRT10 ABCA5 NDUFB8 SGSH SLC1A4 KIFBP AFF4 ARID1B SURF1 RAB3GAP1 ZBTB20 SNAI2 COG7 SETBP1 NDUFS8 MT-TF NDUFA13 ECHS1 NDUFS7 NIPBL ATP6V1B2 GNE B3GLCT RAI1 SMC1A SLC29A3 CHMP1A KCNH1 GNA14 KMT2A TBCK GNS UROS MT-ND1 MT-ND4 PET100 BPTF NDUFAF2 SRD5A3 UBE2A HMGA2 BMP2 KCNK4 TWIST2 MT-TQ GPR101 TMCO1 PHF8 CHSY1 SMC3 SCO2 NDUFS2 TRMT10A BLM VPS33A HSPA9 HDAC8 KIT CKAP2L TAF1 NAGLU MAN2B1 CTSC NDUFA12 MITF AIP EDN3 NDUFAF5 RUSC2 MT-CO3 SMARCB1 RAD21 HGSNAT NFIX SOX11 UGDH BCS1L UQCC2 FGF3 KDM1A KLHL7 COX10 SMCHD1 NDUFV1 IQSEC2 VPS37A UROD MED13 FOXRED1 MT-TS2 WAC DHX30 CDON ASXL1 IL1RAPL1 LEMD3 SUZ12 SDHA TP53 TLK2 ASXL3 TRAPPC9 STAG1 MT-TH SLC19A3 NOTCH2 CERT1 TACO1 MBD5 SOX10 PSMD12 CDH11 ADAT3 ZIC2 ZNF711 PAX3 LTBP3 HFE PPP1R15B KCNN3 NDUFV2 DEAF1 KCNMA1 GLB1 EHMT1 CDC42 TAF6 KLF13 TTI2 COX15 NANS CDKL5 PACS2 SETD5 RNF125 NECTIN1 MT-CO1 ANKRD11 MT-TW TMEM94 IDS MT-ND5 UGP2 PDHA1 EBF3 ALG9 FLII MT-ND6 TRAIP PACS1 RAB18 FGFR1 TRIO FREM1 CHRNA7 DOCK7 HNRNPU NDUFS3 NDUFS4 SLC25A24 EDNRB NDUFA10 CTCF CSNK2A1 TALDO1 POLR3A PHIP MTFMT TUBGCP2 FHL1 NDUFA2 CDK10 PIGN SMARCA4 KNL1 MT-CO2 NDUFAF3 USP9X CPOX GJB4 NDUFA4 XYLT1 NSUN2 IGF1R NUS1 ARX CUL4B NDUFA9 MAB21L1 WNT4 CWF19L1 SPATA5 MT-TL1 ERLIN2 GATA1 PUF60 HP_ABNORMALITY_OF_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PIGMENTATION TYRP1 SMS NHP2 SMARCAL1 MPLKIP LBR TSC2 ABCB6 KRAS EDAR FANCL MVK TERT PTEN STK11 RPS27 FGFR2 TP63 TCF4 MAPRE2 LAMA3 MYO5A ERCC3 RRAS2 LAMTOR2 MC1R KIT SLC6A19 PWAR1 BRIP1 C1R PORCN ATP6V1B2 WRAP53 TTC37 HAMP KRT14 TSC1 KRT5 KCNH1 HSD3B2 DTNBP1 GNA11 BANF1 HCCS COL7A1 MT-ND4 CHRNA7 XPC ERCC8 SEC23A SRD5A3 IL6 HRAS HMGA2 MT-TQ DCLRE1C TMC6 PLCG2 IGF2 GJA1 RNF113A SLC45A2 ALAS2 SLC35A2 CYBC1 MMP2 MRAP MTOR EDARADD BSCL2 HPS4 GBA NF1 MRAS SLX4 MGMT PTCH2 PIK3CA IRF5 GPR143 MT-CO3 NRAS BRAF SUFU KIAA0319L SLC40A1 AP3D1 BUB3 DDX3X TYR NOD2 ARVCF PSMB8 FANCA DSTYK KDM6B MITF NDN NCF4 FGFR1 LYST PTPN11 COL17A1 SDHC EDNRB UROD AAAS GJB6 DST XRCC2 GALC TERF2IP FOS PTPN22 HFE TNFRSF11B SALL4 LEMD3 OCRL UBE2T SUZ12 EBP ERCC2 ERCC4 AGPAT2 TINF2 MAGEL2 APOE ACTB UFD1 PPARG SOS2 MT-TH FANCB SNORD115-1 HGD STAR SPIB CEP57 BAP1 FANCM CDKN2A FANCE KITLG ERCC6 RAF1 TWIST2 CLCN7 NLRP1 NCF2 FGFR3 ACD CARD14 LMNA SNRPN CSTA ATP7A PDE4D ATP2A2 COMT CIB1 GNAS PMPCA C1S HLA-DRB1 SKIV2L JMJD1C MLPH ST3GAL5 ERF OCA2 RAB27A PDGFRB MAFB APC HIRA PPOX DKC1 RBM28 BRCA2 AKT1 SOX10 MT-CO1 CRIPT GJB4 NSUN2 JAK3 SASH1 GJB3 MT-ND5 HPGD SEC23B DNAJC21 PROC BRCA1 PCSK1 BUB1B SOS1 CYBB MT-ND6 EPG5 SNAI2 TARS1 BMP2 CAT HJV MAD2L2 DDB2 ANAPC1 IL12RB1 VPS13B SDHB CAV1 MSH6 TERC TBX1 PMS2 MMEL1 PWRN1 BUB1 PIGN ALDH3A2 INSR MT-CO2 BLM RIT1 NCF1 CDKN2B USP9X CPOX CACNA1F TUBB GMPPA GNAQ SEC24C PAH CTNS ZMPSTE24 PRKAR1A PTCH1 LAMB3 NBN CTC1 ADAR TNFRSF1B MT-TL1 SLC24A5 PALB2 SEMA4A ITGB4 SDHD UVSSA LIFR CYBA NOP10 SMO PPP1CB RFWD3 PDGFRA MLH1 A2ML1 MT-TF ERCC5 COX7B EMC1 GTF2H5 SLC29A3 POFUT1 TNFRSF11A EDA MFRP PROS1 HPS5 UROS MT-ND1 RREB1 CYP11B1 CDH3 UBE2A FANCF TRAF6 NPAP1 MC2R TRIP13 GPR101 NR0B1 ABCD1 CYP17A1 FERMT1 CYP11A1 SPRED1 DCPS POMC GTF2E2 MSH2 PAX6 GPNMB FANCC CTNNB1 CD28 FANCG ANTXR2 UBE3A MAP3K7 CTSC IKBKG AIP EED FANCI TNFRSF1A FANCD2 PIGA ACP5 TMC8 TFR2 MAP2K1 CHN1 TXNRD2 EDN3 RTEL1 MT-TS2 CBL CTLA4 POT1 TNPO3 COL3A1 HERC2 GP1BB RDH11 HPS6 CAVIN1 RAD51 PANK2 KDF1 SLCO1B3 PCNT KLLN SLC17A5 LIG4 XPA PAX3 LAMC2 MAP2K2 KCNN3 RASA2 DNASE1L3 KIF15 CDK4 POGZ NPM1 SLCO1B1 AIRE POU2AF1 NOTCH3 LRMDA NNT RAD51C CDH23 BTNL2 MT-TW MKRN3 IL12A FOXD3 CASR HPS1 LZTR1 TUBGCP6 POR SNORD116-1 FLNA CCN2 PARN RECQL4 KDSR CXCR4 POLH USF3 FKBP10 TGM5 SDHA CBS PSAP NDUFB11 RRAS BTK BLOC1S3 FAS SPINK5 CCR6 IDUA USB1 MPL TNFSF15 ANTXR1 POLA1 GATA1 TRAPPC11 B4GALT7 USP8 WDR73 AP3B1 IL7 BLOC1S6 SOX18 HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE TRMT10A PLIN1 CAV1 PHGDH ATP6V1A BSCL2 INSR ERCC6 LMNA SLC25A24 TOP3A PTEN FBN1 ATP6V1E1 ZMPSTE24 PPP1R15B PPARG TGFB1 CDKN1B POLR3A NAA10 COL1A2 AGPAT2 FGFR1 SLC2A2 PTF1A PRKACA BMPR1A ATP6V0A2 MEN1 PIK3CA COL1A1 AKT1 IGF1R FH RBM28 ERCC8 SKI CDKN1A PMM2 CDKN2B ADAMTS2 TBL1XR1 CDKN2C SOX18 HP_MULTIPLE_LENTIGINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LENTIGINES MAP2K2 PTPN11 BRAF KITLG PRKAR1A MAP2K1 DSTYK RAF1 KRAS STK11 HP_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHEDEMA ABCC9 BCL6 SLC35D1 PTPN11 LZTR1 SHANK3 LBR PIK3CA GATA2 BCL2 NAGA KIF11 MRAS KIF7 FLT4 ANTXR2 INPPL1 TSC1 KRAS PTPN14 PTEN FAT4 A2ML1 MAP2K1 GJC2 BRAF SOX18 RRAS2 RAF1 MAP2K2 RELN RASA2 GUSB PIEZO1 CCBE1 FOXC2 NRAS GLA CBL DNMT1 LEMD3 ADAMTS3 RIT1 CDC42 DCHS1 MPI EPHB4 RRAS HLA-DRB1 VEGFC AKT1 TSC2 PMM2 CDK5 SOS2 SOS1 ALG8 HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS SCN2A CYB5R3 JAK2 CASR UGT1A1 KMT2E VHL VAMP1 LBR SPTB ELP1 C15orf41 CPOX EPB42 SH2B3 PEX16 ATP11C KCNN4 TCF4 COG7 TREX1 PARS2 ATRX TBX19 PRKAR1A EPB41 ABCC2 GPR35 RNU4ATAC HNF4A CPA1 CHRNB1 PEX1 ABCB4 PEX5 PIEZO1 RHAG HESX1 ALDOB HBG2 ATP7A ABCB11 AK9 SLC5A7 PEX6 SPINK1 ACVRL1 HNF1B SAMHD1 PEX26 AKR1D1 ATP8B1 PALLD CYB5A CDKN2A LHX3 MPV17 GCLC CALR PEX19 GABRA1 PRSS2 SCN4A RAPSN TTC37 NPC2 HSD3B7 COL13A1 PKLR PALB2 PEX10 SEPTIN9 DHFR OCLN PFKM ANK1 CASK CLDN1 MUSK KRAS SP110 CHRNE ACADVL PAX3 THPO SMAD4 ACADL DAXX SFTPB TPI1 BPGM GABRG2 SLC25A20 MMP21 MST1 PEX12 ZIC3 NKX2-5 SPTA1 CFTR NBAS GTPBP3 DOK7 VPS33B F5 CYP7B1 ABCD3 SLCO1B3 ATP6AP1 KRT8 PUS3 NR1H4 ETFA TNPO3 RNASEH2B GYPC GLRX5 IER3IP1 DUOXA2 SLC25A13 CHRNA1 PSAT1 SLC2A1 SLC26A4 PAX8 NPC1 SLC4A1 TSHR MYO9A PEX14 JAG1 RBM10 SPIB PRF1 ETHE1 GPC1 PROP1 PEX11B AGRN ETFB ENG POU1F1 IL2RG LHX4 SNAP25 HBB TPO MVK FLI1 TSHB DGUOK ATP7B LMNA GALK1 SLC30A10 SFTPC SLCO1B1 SLC5A5 POLG2 SEC23B DCDC2 POU2AF1 RAB27A COX4I2 TMEM260 TFAM DUOX2 BRCA1 ADAR TP53 PCK1 IFIH1 COL5A1 CTRC VIPAS39 STXBP1 PROC SLC25A1 PTPN3 PRSS1 LRP4 IL12A CCDC115 PROS1 SERPINA1 LPL CHRND GSN PCDH19 G6PD MT-CYB IYD BRCA2 ETFDH PRPS1 PEX2 TG HMGCL COL1A1 SMPD1 CHAT SLC25A3 IL12RB1 SCN9A CTCF ADAMTS13 GPI RNASEH2C PEX13 KRT18 SLC18A3 HK1 MMEL1 GALT LIPA COL5A2 AGXT GJA1 IRF5 RNASEH2A CDAN1 LYST PEX3 DPAGT1 TRMU EIF2AK3 PEPD SCN1A ZMPSTE24 SYT2 TRHR GALE TNFSF15 AMACR PRKAG2 SCN1B ALDOA RPS6KA3 FUCA1 HP_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIRSUTISM KMT2D RAB3GAP1 WNT4 ELMO2 SMARCC2 FRMD4A NKX6-2 KCNAB2 ABCA5 SGSH GNAS AFF4 ARID1B SMO PTEN SHROOM4 MAPRE2 ARX ARL6 SMARCD1 PPARG SRCAP CCDC28B TWIST2 RAB3GAP2 SETD2 NIPBL GNE SMC1A PRDM16 FUT8 MMP14 HSD3B2 BBS5 CACNA1G HSPG2 TBCK GNS SOX11 MAP3K1 ABCC9 GATA1 SMARCD2 UBE2A TRIM32 ADNP FGFR2 EP300 ADAMTS2 GPR101 CDK5 SMC3 GLI3 KMT2A GJA1 MMP2 CYP19A1 SUCLA2 AIMP2 VPS33A BSCL2 MKS1 HDAC8 LMNB2 RERE CKAP2L KCNH1 ASXL1 NAGLU LMNA TBX15 CTSC INSR AIP SMARCB1 BBS4 RAD21 HGSNAT OFD1 SLC25A24 ARSB LRPPRC SKI FLNA RAB18 BCL11B TAF1 WAC TBC1D20 CCBE1 FOS SMARCA4 ARMC5 WDPCP NRAS AGPAT2 PRKAR1A BBS12 CAVIN1 CEP290 DPF2 MC1R NOTCH2 CAV1 MBD5 NR3C1 IDUA IFT27 TWIST1 BBS10 SDCCAG8 BBS9 BBS2 IRF6 BBS7 PRKACA BMP15 PLAA TAF6 LZTFL1 ERCC6 RIN2 USP8 NANS NFIX AKT1 CDH23 GJB4 H6PD CREBBP KCNJ8 GJB3 BBS1 SETD5 MAP3K7 SOX4 ALMS1 POR FSHR MGAT2 MKKS KDM6A ARID1A C8orf37 NPHP1 KDSR PEPD SMARCE1 POLR3A GABRD TBCD RPL10 BBIP1 ARID2 TUBB IFT172 CYP11B1 MAB21L1 XYLT1 GUSB PAPSS2 TTC8 WDR81 HP_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA PORCN PIGY XPC PIK3CA GDF2 ELMO2 IRF5 LBR NAGA KLLN ENG KCNAB2 CCM2 NOP10 MT-CYB CAV1 XPA LMX1B XRCC4 ERCC3 STN1 PTEN LIG4 ERCC5 ATRX GNPTAB ACTA2 CIB1 NPM1 GPR35 MT-ND1 SDHD MT-ND2 ATM GNAQ WRAP53 SLC29A3 PRDM16 RNF168 ARX HLA-DRB1 DDB2 KIT MT-ATP6 PIGO MT-CO1 MT-CO3 SLC52A2 ATR HFE GLA ENPP1 ERCC6 SMAD4 PCNA ACVRL1 CCR6 RNF213 PIGL EPHB4 STXBP1 FRG1 CDH23 CTSA TCF4 LMNA SEC23B TMC6 FERMT1 NDUFS2 POLE TERC DPM1 SLC37A4 AKT1 BLM TERT CYLD RERE BMP2 MT-ND4L STING1 ANTXR2 SLC2A10 CCN2 WRN PARN ARL6IP6 MT-ND4 POLD1 SDHB PEX6 SOX18 TALDO1 TREX1 KIAA0319L PIGW DAXX ERCC2 GABRD SETX POLH MST1 IKBKG MASP1 USF3 TMC8 ABCC6 SKI SDHC NHP2 RTEL1 VHL PEPD COL3A1 USB1 ERCC4 TINF2 CTC1 PGAP3 MRE11 MT-ND5 RECQL4 DKC1 WNT10A PGAP2 MT-ND6 BMPR2 USP8 PIGV RASA1 IL7 UVSSA HP_HYPOPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_SKIN TYRP1 SMS FANCE XPC PIK3CA TSC2 FANCL NOP10 SMO RFWD3 FGFR2 TCF4 MC1R MITF MYO5A SNAI2 ERCC5 LAMTOR2 KIT SLC6A19 KRAS PWAR1 BRIP1 COX7B WRAP53 POFUT1 TTC37 KRT14 TSC1 DTNBP1 HCCS HPS5 COL7A1 UROS RREB1 EDNRB UBE2A FANCF NPAP1 TMC6 FERMT1 DCPS POMC KRT5 SLC45A2 SLC35A2 CTNNB1 MTOR BLM CD28 HPS4 FANCG SOX10 SLX4 UBE3A CTSC IRF5 NRAS FANCI KIAA0319L AP3D1 TYR FANCD2 ARVCF ACP5 FANCA NDN IKBKG TMC8 LYST SDHC CHN1 TWIST2 EDN3 RTEL1 XRCC2 GALC PTPN22 SALL4 OCRL UBE2T EBP HERC2 TINF2 MAGEL2 GP1BB APOE HPS6 UFD1 FANCB SNORD115-1 RAD51 FANCM ERCC4 OCA2 PCNT KLLN KITLG SLC17A5 XPA CLCN7 ERCC3 FGFR3 PAX3 EPG5 SNRPN ATP7A COMT CIB1 NPM1 PMPCA AIRE HLA-DRB1 SKIV2L JMJD1C MLPH ERF RAB27A HRAS MAFB HIRA PPOX LRMDA RAD51C BRCA2 BTNL2 CRIPT SASH1 MKRN3 LMNA SEC23B TBX1 BRCA1 PCSK1 TERC HPS1 AKT1 TERT SNORD116-1 MAD2L2 DDB2 FANCC ABCB6 CCN2 PARN ANAPC1 SDHB CAV1 ERCC2 PWRN1 POLH USF3 PTEN CTLA4 PIGN LEMD3 CBS NHP2 CACNA1F PSAP SEC24C PAH CTNS BTK BLOC1S3 FAS CCR6 TP63 USB1 NDUFB11 CTC1 ADAR TNFRSF1B SLC24A5 DKC1 ANTXR1 PALB2 WDR73 AP3B1 IL7 BLOC1S6 SDHD HP_MULTIPLE_LIPOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LIPOMAS CCL2 MT-RNR1 FLCN KRAS MT-TS2 FGFR1 ALX3 PTEN MT-TP CDKN1B MT-TQ ABCC6 TBXT VANGL1 AP2S1 BMPR1A MT-ND5 MSTO1 ENPP1 PIK3CA MFN2 MT-TK MEN1 APC FUZ AKT1 ZSWIM6 ALX1 GNA11 VANGL2 CDKN1A MT-TF MT-TH CDKN2B SPRED1 CDKN2C MT-TL1 LEMD3 HP_ANGIOKERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOKERATOMA FUCA1 GLB1 AGA NAGA MANBA GLA HP_ANEMIC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIC_PALLOR FANCC FANCA ENG FANCD2 BMPR1A FANCE TET2 SMAD4 HP_ABNORMAL_PALMAR_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS TWIST1 LIFR GLE1 CTBP1 RNU4ATAC BMPR1B SMARCAD1 B4GALT7 SMARCC2 G6PC3 AMACR KAT6B ARID1B TCF4 SETBP1 SMARCD1 NUP188 FGF9 MYH3 DDX11 TPM2 ATR NIPBL MED25 ATP6V1B2 B3GLCT FGFRL1 KCNH1 CHD7 PIEZO2 SOX11 AUTS2 PEX13 PEX10 PEX11B SHOC2 UBE3B TELO2 ADNP ROR2 GPR101 TCF12 FIG4 SMC3 HRAS ATRX PEX1 TFAP2A NXN SEMA3E FGD1 CHST14 DLX4 BCOR CKAP2L YY1 ASXL1 PEX12 CTCF ESCO2 KRAS IFT57 AIP SMARCB1 BRAF RAD21 MCTP2 IGF1 DSE EXT1 BRF1 BHLHA9 PEX2 MAP2K1 SLC18A3 EXTL3 UBR1 PEX26 CCBE1 SMARCA4 UBA1 SIN3A GDF5 SMOC1 TBX4 PLOD3 SMC1A HNRNPK LETM1 STAG1 DPF2 PEX6 RAPSN RBM10 VPS33A RPL10 PORCN SPECC1L SLC16A2 PEX19 PEX14 GATA1 LMX1B SLC39A13 FOXP1 EP300 NSD2 MAP2K2 KCNN3 APC THOC2 FGFR3 CHST3 MTOR DOK7 FGFR2 EHMT1 PLAA RPS23 PEX5 ATP6V0A2 PUF60 VPS13B CEP55 STXBP1 DIS3L2 NECTIN1 CPLX1 NAA10 CREBBP ANKRD11 RAB11B TBL1XR1 ADAMTSL1 DPH1 OFD1 SETD5 NALCN PACS1 SOX4 MYOD1 PNPLA6 TNNT3 MED12 SLC25A24 NBAS PPP2CA ASXL2 TGDS ARID1A PEPD RIN2 SMARCE1 PEX3 VAC14 KMT2A CDK10 TRPS1 PIGS NOG ARID2 MUSK HDAC4 TNNI2 NGLY1 XYLT1 DPAGT1 BMP4 DOCK6 IFT122 HDAC8 PEX16 RPS6KA3 CD96 NUP88 HP_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHRODERMA ALOXE3 IL7R TGM1 KIT LIG4 TARS1 IL2RG MPLKIP CD3D ALOX12B RAG1 DSG1 SULT2B1 KRT10 NIPAL4 CD247 CERS3 RAG2 CARD14 CD3E KRT1 PNPLA1 ABCA12 DCLRE1C SPINK5 CYP4F22 GTF2H5 ADA RMRP ADAM17 AP1B1 ERCC3 EXTL3 CTLA4 MBTPS2 ERCC2 EBP GJB2 LIPN CHD7 MPDU1 GTF2E2 RNF113A TNFRSF1B CD28 SDR9C7 HP_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBINISM TYRP1 TYR HPS4 DTNBP1 OCA2 MITF CACNA1F HPS5 LRMDA BLOC1S3 SLC45A2 EDNRB MC1R EPG5 AP3D1 HPS6 AP3B1 HPS1 HP_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URTICARIA ERCC5 ADGRE2 KIT SPIB MYD88 GJB2 WIPF1 ANTXR2 COL1A1 ELOVL4 FOXP3 MVK NLRP3 IL12RB1 FASLG SDHB CASP10 FAS MBTPS2 RASGRP1 MMEL1 SPINK5 WAS ALDH3A2 PIGT COL5A2 SF3B4 IRF5 POU2AF1 CBS HLA-DQB1 GJB6 SERPING1 TNPO3 COL5A1 ERCC4 ERCC2 TNFSF15 PRKCD ERCC3 PLCG2 HLA-DRB1 IL12A SDHC NLRP12 HP_SOFT_DOUGHY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_DOUGHY_SKIN COL1A2 SON MGP SLC2A10 B3GALT6 COL5A1 COL5A2 ADAMTS2 XYLT1 HP_POIKILODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILODERMA DDB2 ERCC5 XPC CD28 XPA ANAPC1 RECQL4 ERCC3 ERCC4 ERCC6 ERCC2 POLH USB1 TNFRSF1B FERMT1 FAM111B CTLA4 HP_FRAGILE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_SKIN ITGB4 COL7A1 PDGFRB PRKACA PLEC EXPH5 UROD ITGA3 C1S CHST14 COL17A1 COL5A1 COL5A2 JUP COL3A1 PKP1 HFE DSP COL1A2 ADAMTS2 ITGA6 MMP1 FERMT1 B3GALT6 HP_SUBCUTANEOUS_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_LIPOMA BMPR1A PTEN CDKN1B CDKN1A MEN1 PIK3CA CDKN2B AKT1 CDKN2C FGFR1 HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES IHH TPM2 LMX1B NOG HOXD13 RBBP8 HP_HYPERMELANOTIC_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMELANOTIC_MACULE CYBB CYBC1 MMP2 CYBA SMARCAL1 TERT ABCB6 DDB2 RAF1 MVK NOP10 KRAS PIK3CA PARN STK11 XPA NCF2 MLH1 ERCC3 MAP2K2 FGFR3 BRAF KITLG PRKAR1A KDSR ERCC5 TNFRSF1A ATP2A2 PTPN11 MSH6 ACP5 PMS2 ERCC2 DSTYK C1R KDM6B NPM1 GNAS KIT WRAP53 NCF4 C1S INSR ST3GAL5 NCF1 MAP2K1 NHP2 CPOX RTEL1 GNAQ XPC USB1 IL6 GJB4 ERCC4 TINF2 CTC1 GJB3 ACTB DKC1 TERC GJA1 MSH2 GPNMB HP_PARAKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAKERATOSIS PMVK TGM1 POMP MVD NLRP1 CYP4F22 PIK3CA MVK MBTPS2 TRPV3 CLDN1 CARD14 NSDHL DSP RHBDF2 IL36RN SPINK5 KRT13 NIPAL4 LORICRIN FLG2 HP_FACIAL_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ERYTHEMA MBTPS2 KCNQ2 ADGRE2 USP8 AIP RHOH HP_PROMINENT_SCALP_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SCALP_VEINS POLR3A ZMPSTE24 ANTXR1 PTDSS1 LMNA HP_VITILIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITILIGO MT-CO2 MT-ND6 MT-TS2 CAT NBN PTPN22 MT-ND1 MT-ND4 FAS NLRP1 MT-CO3 KITLG MT-CO1 SLX4 MT-TF MT-TW CXCR4 MT-TQ MT-ND5 ACP5 DCLRE1C MT-TL1 PLCG2 POGZ DSTYK MT-TH EMC1 FOXD3 AIRE HP_INTERMITTENT_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_JAUNDICE ABCB11 SLC4A1 KCNN4 PIEZO1 ATP8B1 RHAG SPTB HP_ATOPIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATOPIC_DERMATITIS ZNF341 DOCK8 SCNN1A NEK9 HSPA9 IFIH1 PGM3 CARD11 BRAF FOXN1 SCNN1G MORC2 SCNN1B HP_CAVERNOUS_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVERNOUS_HEMANGIOMA KRAS AKT1 HOXD13 PIK3CA MAP2K1 SDHC TEK KLLN SMAD4 MTM1 MTMR14 MYF6 ACVRL1 GNPTAB ENG GDF2 NRAS SDHB BRAF DNM2 HRAS MAP2K2 NOTCH1 SEC23B RYR1 USF3 BIN1 PTEN SDHD HP_SEBORRHEIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEBORRHEIC_DERMATITIS JMJD1C HPGD PIK3CA SEC24C HIRA RREB1 ZNF750 TRAF3IP2 TKT TBX1 RBM8A BTD GP1BB MCCC2 ARVCF PIGA SLCO2A1 TMC6 UFD1 COMT C5 CIB1 IL7 CARMIL2 TMC8 HP_HYPOPIGMENTED_SKIN_PATCHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_SKIN_PATCHES MC1R FANCE PIK3CA FANCM ERCC4 PCNT KLLN KITLG FANCL NOP10 SMO RFWD3 XPA FGFR2 ERCC3 TCF4 MITF SNAI2 FGFR3 PAX3 ERCC5 SLC6A19 BRIP1 COX7B COMT CIB1 NPM1 AIRE WRAP53 HLA-DRB1 JMJD1C ERF MAFB HCCS SOX10 COL7A1 XPC HIRA PPOX RAD51C BRCA2 RREB1 EDNRB UBE2A CRIPT FANCF SEC23B TMC6 TBX1 FERMT1 BRCA1 TERC KRT5 AKT1 MTOR BLM TERT CD28 FANCG KIT MAD2L2 SLX4 DDB2 FANCC CTSC ABCB6 CCN2 PARN ANAPC1 IRF5 SDHB FANCI KIAA0319L FANCD2 ARVCF ACP5 CAV1 FANCA ERCC2 IKBKG USF3 PTEN CTLA4 TMC8 KRT14 SDHC CHN1 TWIST2 NHP2 EDN3 RTEL1 PSAP XRCC2 GALC SEC24C PTPN22 BTK FAS CCR6 SALL4 NRAS UBE2T USB1 NDUFB11 EBP TINF2 CTC1 GP1BB TNFRSF1B UFD1 DKC1 ANTXR1 PALB2 FANCB IL7 SDHD RAD51 HP_NUMEROUS_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_NEVI BRAF PCGF2 FGFR3 NRAS CDK4 HRAS PIK3CA HP_ERYSIPELAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYSIPELAS FLT4 CCBE1 FAT4 MEFV TNFRSF1A ADAMTS3 FAM111B VEGFC GJC2 KIF11 HP_MILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILIA KRT14 ITGB4 COL7A1 SMARCAD1 KRT5 PLEC CYLD LAMA3 COL17A1 LAMC2 OFD1 LAMB3 ITGA6 PTCH2 FERMT1 PTCH1 MMP1 SUFU HP_APLASIA_CUTIS_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA PLEC BMS1 TFAP2A ITGB4 ATP6V1B2 CTBP1 NSD2 HSPA9 DOCK6 ARHGAP31 DLL4 COL7A1 COL17A1 EOGT KRAS LAMA3 MSX2 LETM1 RBPJ LAMC2 MCTP2 ITGA6 ALX4 KCTD1 FGFRL1 LAMB3 COX7B TAF1 UBR1 NOTCH1 DSP NELFA CPLX1 HP_POOR_WOUND_HEALING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_WOUND_HEALING RAC2 F8 NTRK1 COL1A1 AIP HELLPAR F13A1 COL1A2 CFH COL12A1 C1R ITGB2 USP8 F13B COL5A1 CD46 NGF CFI HP_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTERYGIUM IRF6 DOK7 ITGB4 CHRNA1 EFNB1 MYH3 MMP14 CHRND PHGDH GPC6 SLC18A3 MYOD1 MUSK PLEC FKBP10 NHP2 CHRNG DDB2 ITGA6 PLOD2 XPC DKC1 XPA PSAT1 ERCC3 BHLHA9 ERCC4 ERCC5 MMP2 ERCC2 LMX1B RIPK4 RAPSN NOP10 NUP88 HP_AXILLARY_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXILLARY_PTERYGIUM ITGB4 EFNB1 GPC6 RIPK4 PLEC CHRNG MYH3 ITGA6 HP_ACNE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE IL12A HLA-B WNT4 LPIN2 PSENEN POR ESR1 PSEN1 AIP SH3PXD2B LHCGR MEIS2 NR3C1 MEFV AGA C4A IL12A-AS1 XIAP UBAC2 ARVCF RBP4 SLCO2A1 TBX1 IL10 COMT ABCC6 STAT4 PRKACA JMJD1C HSD3B2 IL23R ERAP1 HYOU1 ENPP1 PSTPIP1 SEC24C CCR1 HIRA HPGD RREB1 KLRC4 CDH23 NCSTN KDF1 H6PD GP1BB TLR4 FGFR2 GPR101 XYLT1 ECM1 UFD1 USP8 FAS PAPSS2 HP_ACROCYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROCYANOSIS COL5A2 AGXT RNASEH2A ETHE1 ELP1 TCF4 SEPTIN9 COL1A1 ADAR MVK RNASEH2B IFIH1 COL5A1 PAX3 TREX1 THPO SAMHD1 RNASEH2C SH2B3 CALR RPS6KA3 FUCA1 HP_STRIAE_DISTENSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIAE_DISTENSAE COL5A2 CUL4B PDE11A ENPP1 SMAD3 FBN1 USP8 COL1A1 TGFBR2 COL5A1 TGFB2 TP53 TGFBR1 AIP PDE8B PRKAR1A GNAS PRKACA DLG4 SH3BP2 ABCC6 HP_NEUROFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBROMAS SMARCB1 BAP1 SUFU PDGFB PIK3CA TERT NF1 AKT1 SMO NF2 SPRED1 SMARCE1 KIT SDHC SDHB TRAF7 HP_EPISODIC_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERHIDROSIS EPAS1 MDH2 RET SDHD DNMT3A RETREG1 SLC25A11 WNK1 KIF1A ELP1 DLST SDHB SDHAF2 VHL ALDOB NF1 SDHA SDHC FH MAX KIF1B TMEM127 SCN9A HP_MOTTLED_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTTLED_PIGMENTATION KRT5 HPGD ZMPSTE24 RECQL4 LMNA RDH11 HP_THICKENED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_SKIN STIM1 KRT14 PLIN1 FGFR3 PDGFRB ELMO2 KLHL24 MPLKIP LBR RAG1 DSG1 INSR PSEN1 IL17F STS MYH7 ESR1 AFF4 PTEN KRT81 IL36RN FGFR2 GJB2 WRN MAPRE2 LAMA3 RAF1 KRT1 PEX7 TNNI3 MBTPS2 SDR9C7 LORICRIN KRT5 RAG2 PKP1 KRT13 WRAP53 SYNE2 ERCC3 FLG2 FGF8 KRT2 GPR101 LTBP3 NRAS MVK DOLK DMD GLA TTC7A NSDHL XPC ATP7A SMARCAD1 ANOS1 LMNA SRD5A3 PHGDH SHOC2 ELOVL1 KRT9 COL17A1 LIPE HDAC6 GJA1 AP1B1 MCOLN1 NLRP3 NECTIN1 HRAS FHL2 RNF113A KRT83 SYNE1 MMP2 PLEC DIP2B XRCC4 ACTN2 VPS33A BSCL2 KRT6B KRT16 GINS1 ZC4H2 PHYH CIDEC HSD11B1 CLDN1 KRT6C CERS3 COL6A3 BRAF DSP RSPO1 PEX1 NOD2 DES COL6A1 AQP5 LAMA4 ABCA12 SPINK5 TMPO TNNT2 FLG ITGB4 KRT10 SDHC UROD VPS33B ATL3 AAAS FLRT3 GJB6 ABHD5 AP1S1 PIK3CA KISS1R NTRK1 FOS CCDC141 RHBDF2 VEGFC SERPINB7 ALOXE3 PPARG EBP ERCC2 AGPAT2 TINF2 DCLRE1C USB1 PEX16 LARP7 TPM1 PEX11B PEX5 TGM1 CAV1 SLURP1 MYPN HAND2 POGLUT1 FLT4 ADAMTS10 PEX12 SGPL1 ZMPSTE24 DCC SOX10 ALOX12B HFE CARD14 SUMF1 TRPV3 TMEM43 NEBL TAF1A CSTA NLRP1 RBM20 ATP2A2 COG6 MSMO1 PNPLA1 HESX1 KRT86 KIT RMRP SMAD4 COL12A1 ERF WNT10A SOS2 COL7A1 CAP2 CHKB SLC45A2 GJC2 PEX19 AKT1 KDF1 GJB4 GJB3 DSC2 SBDS SEC23B DNAJC21 ECM1 RYR1 PCSK1 KDSR TERT TARS1 ALMS1 IL2RB PROKR2 DDB2 SULT2B1 ARSL FKBP14 SH3PXD2B ANAPC1 FGF17 RIN2 FBN1 FDPS POLR3A ABCC9 IL17RA ELOVL4 RECQL4 PSMB4 ALDH3A2 BLM LEMD3 NIPAL4 EXPH5 ST14 SERPINB8 TUBB GMPPA CAVIN1 GBA DSG2 LAMB3 ERCC4 PDGFB SPRY4 MAP2K1 CTC1 ITGB6 KRT6A TNFRSF1B LIPN PAH SDHD PMVK MVD SNAP29 COL6A2 NAGA KRT17 IL17RC FKTN ANKRD1 NOP10 FGFR1 LSS PSAT1 ADAM10 MYBPC3 ERCC5 TAZ KRAS TCAP SLCO2A1 PIGL RNU4ATAC CYP4F22 GTF2H5 SLC29A3 POFUT1 TXNRD2 WDR11 DSG4 TRPM4 PEX26 SLC27A4 UROS CTSC ORAI1 KANK2 HS6ST1 ENPP1 CDH3 GATAD1 IL17RD PEX6 VCL ADAMTS2 PEX3 FERMT1 PRDM16 POMC GTF2E2 AAGAB TP63 CYP19A1 GLS CD28 TNNC1 LIG4 IL7R ANTXR2 IKBKG AIP TAT NEK9 COL1A1 PEX13 PIGA NEU1 CARMIL2 SLC17A9 ADA MC4R LAMC2 NSMCE2 RTEL1 HLA-DRA CTLA4 SDHA PEX2 PPCS COL4A5 ADAMTSL2 PLN TRAF3IP2 SLC12A3 TRIP4 NOTCH2 HPGD RIT1 KLLN BAG3 PSMB9 SASH1 XPA EMD MAP2K2 CRYAB POMP PSEN2 GNPTAB CLCNKB TACR3 NPM1 GRHL2 SCN5A LTBP2 TYR DDX58 AKT2 ACTC1 CAST JUP VIPAS39 DUSP6 SRP54 CHD7 TERC MPDU1 NECTIN4 PROK2 LDB3 COL14A1 PSENEN IL2RG SGCD CSRP3 NSMF KIF11 ATP2C1 PARN PEX10 ZNF750 POLD1 FHL1 SDHB AHSG PEX14 KITLG ERMARD PEPD TMPRSS6 IL1RN USF3 SEMA3A TGM5 PERP NHP2 TTN CUL4B CLEC7A MYH6 DKC1 IDUA POLA1 NEXN GATA1 TRAPPC11 FEZF1 EFL1 FUCA1 SOX18 HP_CIGARETTE_PAPER_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIGARETTE_PAPER_SCARS SLC39A13 CTSC COL5A1 COL5A2 COL3A1 HP_ATROPHIC_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHIC_SCARS KRT14 ITGB4 KRT5 COL7A1 CHST14 PLEC B4GALT7 COL3A1 CTSC LAMA3 COL5A1 LAMC2 LAMB3 COL1A2 ITGA6 C1R SLC39A13 AEBP1 DSE CARMIL2 C1S COL17A1 DST FKBP14 COL5A2 COL1A1 MMP1 SMAD3 HP_BILIARY_TRACT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_ABNORMALITY RFXANK JAG1 CTBP1 SPIB NPHP3 GPC1 AMACR PSAP INPP5E IL36RN STK11 PKHD1 ARL6 NSD2 CCDC28B POLG ESCO2 DCDC2 CIITA ABCC2 GPR35 UGT1A1 B3GLCT FGFRL1 CLCA4 POU2AF1 LBR SCARB2 ABCB4 PEX5 RFX5 TTC7A DCTN4 CD40LG PHKG2 CPLX1 LMNA CFTR AKR1D1 CC2D2A TCF4 ITCH PTPN3 IL12A STX1A WDR35 LONP1 RFXAP RNF43 FARSB MKS1 PEX2 BBS1 TMEM67 DZIP1L IL21R GATA6 IL12RB1 BCS1L RPGRIP1L RFX6 FCGR2A MMEL1 MST1 ZIC3 CEP290 TGFB1 IRF5 USP9X ARSA CLDN1 TNPO3 ERCC4 HNF1B GCGR GBA TNFSF15 HSD17B4 HSD3B7 CYP7B1 PEX1 LETM1 TMEM216 HP_CHOLELITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLELITHIASIS CCDC47 FECH LIMK1 RFC2 GNE SPTB PEX19 EPB42 PFKM HBB ANK1 GTF2I GDF2 TBL2 ABCG8 SLC4A1 CYP27A1 SCNN1A SMPD1 SPTA1 GPI CYP7A1 ELN TPI1 ARVCF HK1 BPGM TBX1 CLIP2 COMT SCNN1G PIEZO1 GPR35 MST1 MED25 AIRE SEC23B EPB41 JMJD1C UQCRFS1 ALAS2 KCNN4 DMPK BAZ1B ABCB4 PKLR SMAD4 SEC24C ACVRL1 UROS HIRA RREB1 ENG BLVRA GYPC GCGR GP1BB ABCB11 TCF4 GTF2IRD1 UFD1 ALDOA SCNN1B HP_CHOLECYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLECYSTITIS GPI MECP2 F5 ARSA TPI1 ABCB4 HK1 PKLR SMAD4 PSAP BPGM ACVRL1 ALDOA JAK2 PNPLA2 ENG GDF2 HP_ECTOPIA_LENTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_LENTIS PAX2 AASS GNA11 FBN1 PORCN BAP1 COL18A1 CPAMD8 CHRDL1 GNAQ ADAMTS10 SF3B1 TAP1 LTBP2 FBN2 COL1A1 COL5A1 MOCS2 ADAMTS17 BCOR SUOX C12orf57 CYSLTR2 COL11A1 SALL2 COL2A1 B3GALT6 COL5A2 CBS ADAMTSL4 FOXE3 HSPG2 TAPBP P3H2 NDP ASPH MOCS1 EXOC6B LOXL1 TAP2 HP_PAPILLEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLEDEMA MMP14 UQCRFS1 BAP1 IL11RA PDGFB PIK3CA TERT SMO BRAF SMARCE1 APC TRAF7 SMARCB1 SUFU IDS CTNNB1 FAM111A AKT1 MMP2 TP53 SOST NF2 ZIC1 HP_DEVELOPMENTAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_GLAUCOMA CYP1B1 CHST3 B3GAT3 LTBP2 FOXC1 POMT1 PTEN POMGNT1 FKRP FOXE3 TREX1 MAFA RNASEH2C PAX6 LARGE1 PITX2 CANT1 PYCR1 POMT2 DAG1 TWIST1 FUT8 GLIS3 RNASEH2A FKTN TEK FLNA GNAQ ADAR NCAPG2 RNASEH2B AKT1 IFIH1 FGFR2 OCRL SRY SAMHD1 PXDN MAB21L1 RPS19 ATOH7 ADAMTSL1 SH3PXD2B HP_ABNORMALLY_LARGE_GLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LARGE_GLOBE POMK TWIST1 FUT8 GLIS3 CHST3 PIGV KCNJ1 B3GAT3 LRPAP1 POMT1 FKTN KCNJ6 GNAQ PTEN ALKBH8 POMGNT1 NCAPG2 FKRP AKT1 FGFR2 POMT2 OCRL ARX CPSF1 FBN1 PIK3R2 WDR26 PXDN MAB21L1 CASK CHSY1 LARGE1 PSMB8 ATOH7 ATR ADAMTSL1 CYP1B1 DAG1 SH3PXD2B HP_ABSENT_LACRIMAL_PUNCTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_LACRIMAL_PUNCTUM FGFR3 TP63 FGFR2 FGF10 UBR1 HP_OPTIC_NERVE_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_DYSPLASIA PEX5 BRAF B4GAT1 CPAMD8 PEX2 PAX2 HP_IRIDOCYCLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDOCYCLITIS STAT4 STUB1 PTPN22 IL2RA CD247 PTPN2 ANKRD55 HLA-DRB1 NOD2 IL2RB HP_KERATOCONJUNCTIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOCONJUNCTIVITIS GSN IL23R GJB2 IL12A HLA-B HLCS ERCC3 TARS1 ERAP1 MPLKIP FOXE3 UROS LBR B2M HLA-DRB1 CCR1 IARS2 BTD AEBP1 KLRC4 RNF125 BTNL2 ZMPSTE24 MEFV ERCC2 C4A IL12A-AS1 MAB21L1 UBAC2 TLR4 LMNA NLRP1 IL10 SCN9A NOD2 GATA1 FAS GTF2E2 GTF2H5 RNF113A AIRE STAT4 HP_HETEROCHROMIA_IRIDIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROCHROMIA_IRIDIS PAX3 SNAI2 CHN1 EDNRB KIT ELP1 MAFB EDN3 MITF SOX10 PTEN KITLG AKT1 SALL4 PNPLA6 ACTG1 LMX1B ACTB GNAQ HP_ANGIOID_STREAKS_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOID_STREAKS_OF_THE_FUNDUS ABCC6 TNFRSF11B PTEN GGCX GALNT3 ENPP1 PIK3CA XYLT2 AKT1 XYLT1 HP_ABNORMAL_MACULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACULAR_MORPHOLOGY PAX2 PROM1 PDE6H MPLKIP RD3 MAF BEST1 CNGB3 CDH3 SLC38A8 MC1R ABCC6 SAG MYO5A PRPH2 CNGA3 NF2 GTF2H5 APOE ARL3 CRX FBN2 NOD2 MFRP CACNA1F HPS5 PAX6 OPN1MW SPG11 RLBP1 ARL2BP ALDH3A2 MT-TE RPGR SMPD1 IMPG1 MT-TK XYLT2 TMCO1 GUCA1A GTF2E2 GRK1 RNF113A SLC45A2 POMGNT1 GDF3 NRL HPS4 GBA IKBKG PPT1 MITF EDN3 TRPM1 CST3 ATF6 GUCY2D DRAM2 COG1 CABP4 RAX2 TRIM44 PRPF8 CFI NDP FOXE3 MAPKAPK3 ANO10 RDH5 SCAPER TRAF3IP1 KCNV2 GNAT1 SLC24A5 DHDDS ELOVL4 CNGB1 CLN3 HLA-A PRCD MERTK HPS6 LRIT3 GPR143 GRM6 LRP5 TYR CFH COL18A1 CTNNA1 SOX10 CACNA2D4 REEP6 RHO DHX38 RS1 CHST6 HMX1 NR2E3 MPDZ RPGRIP1 RBP4 RIMS1 BBS5 XYLT1 CEP78 PLK4 FBLN1 ZFYVE26 TRNT1 ERCC3 OCA2 SYCE1 AIPL1 APC RP1L1 VPS13B NMNAT1 OAT TNFRSF11B IFT140 PDE6C OPN1LW WT1 GNB3 TIMP3 UGP2 ERCC2 PCYT1A ABCA4 SH3BP2 RAB28 MFSD8 DPM1 EPG5 NYX PRPF31 HMCN1 C8orf37 TARS1 PRPS1 MT-TL1 ATXN7 SLC24A1 WDR19 GDF6 PDE6G EDNRB ARHGEF18 TREX1 HK1 RP9 PITPNM3 CLDN19 IMPG2 CCNQ AGXT AP3D1 ADAR PDE6B GPR179 CFHR1 LYST FZD4 GNAT2 TTC8 FBLN5 BLOC1S3 FOXC1 CFHR3 PEX1 SEMA4A SIX6 ASAH1 HP_MACULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_HYPOPLASIA COL18A1 HPS6 HMX1 LYST FOXE3 MPDZ MAF SLC45A2 HP_RETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ATROPHY PROM1 SNRNP200 ARSG PRPF31 HMCN1 CNGB3 NRL C8orf37 PDE6H CTSD RLBP1 REEP6 GBA ABCA4 RHO DHX38 POMT1 TOPORS WDR19 RS1 POMGNT1 FKRP VCAN PRPH2 CNGA3 ATF6 RBP4 LARGE1 HK1 RDH11 RP9 GUCY2D MIR204 DRAM2 RAX2 CEP78 PLK4 CFI APOE GUCA1A STUB1 CRX RPGR CFHR1 MFRP ELOVL4 TRNT1 IMPDH1 MAPKAPK3 TUB RDH5 GNAT2 FKTN AIPL1 HGSNAT ARL2BP LAMA1 ALDH3A2 KCNV2 POMT2 TNFRSF11B IFT140 BEST1 PDE6C HLA-A CFHR3 MERTK RGR SIX6 SH3BP2 SLC7A14 HP_OCULAR_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ALBINISM TYR SOX10 AP3D1 LYST SKI EPG5 HPS4 DTNBP1 RERE HPS6 HPS5 GABRD KCNAB2 GPR143 PMPCA BLOC1S3 AP3B1 BLOC1S6 HPS1 PRDM16 HP_LEBER_OPTIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEBER_OPTIC_ATROPHY TBC1D24 MT-CO3 MT-ND6 MT-ND1 MT-ND4L CPLX1 MT-ATP6 MT-ND2 MT-ND5 MT-ND4 MT-CYB HP_XANTHELASMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHELASMA SLC37A4 GHR PPP1R17 CYP27A1 G6PC GPC1 LPL LDLR APOE TTPA APOB APOA2 EPHX2 HP_POSTERIOR_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_POLAR_CATARACT BBS2 VIM EPHA2 PITX3 ZBTB20 CRYAB ITM2B APC HP_SUDDEN_LOSS_OF_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY CDH23 BRAF AIP MEN1 CTNNB1 HP_JUVENILE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_CATARACT FAR1 ADNP LEMD2 NACC1 TGM3 RDH11 HP_KERATOGLOBUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOGLOBUS ZNF469 COL5A2 COL5A1 SLC2A10 COL1A1 PRDM5 PIEZO2 HP_ABNORMALITY_OF_CORNEAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_SIZE RSPO2 RAB3GAP1 CHRDL1 LIMK1 MPLKIP MAF TUBB SC5D POMT1 FBN1 CHST14 KIFBP KRAS FKRP MAPRE2 LARGE1 KIF11 ELN UBE3B TFAP2A CEP55 GMPPB RAB3GAP2 NIPBL MED25 CRYGD GTF2H5 RAI1 GJA1 PLOD1 ADAMTS18 POMGNT2 PRDM5 SALL4 HSPG2 CC2D2A FKTN CRYBB1 CTDP1 FKBP14 MIR184 TMEM216 ATOH7 SMC3 GTF2E2 RNF113A FGD1 RPGRIP1 BCOR LTBP2 FLI1 TBX15 ANK1 POMGNT1 FANCB KMT2D LETM1 RAD21 CEP290 LMX1B B9D1 CRYGC IQSEC2 MAB21L2 COL4A1 RAB23 RAB18 CHN1 FOXE3 NAA10 BAZ1B TBC1D20 TMEM67 CENPF B3GLCT RPGRIP1L GNPTAB POMT2 ERCC2 PXDN SMC1A GTF2IRD1 ACTG1 PYCR1 JAG1 WNT3 RFC2 CDH11 ERCC6 GTF2I HMX1 DEAF1 RBP4 B9D2 CLIP2 WDPCP CRYAA KCNMA1 POMK PLK4 NHS CRPPA GORAB ERCC3 MAFB TINF2 TBX22 FGF3 TENM3 CRYBA4 NELFA COL5A1 RXYLT1 GJA8 EBP FOXL2 TBL1XR1 PIK3R1 CSPP1 FLII SETD5 ZEB2 TCTN2 PRSS56 NSD2 MT-CYB BMP4 TARS1 COL11A1 COL1A1 PPP2CA DAG1 TBL2 SLC16A12 CTCF BEST1 B4GAT1 KMT2A COL5A2 MKS1 B3GALNT2 TMEM231 HMGB3 PITX3 TMEM107 FGFR2 TEK KDM6A RECQL4 HDAC8 ACTB PITX2 OTX2 CRYBB2 HP_VISUAL_FIELD_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIELD_DEFECT PROM1 PDE6H LRAT ASB10 RTN4IP1 CNGB3 JAK2 MT-ND1 FGFR3 MT-CYB MT-CO1 PDE6A PMS2 EPCAM TGFBR3 PRPH2 CNGA3 ALMS1 CLRN1 CTNNB1 MSX2 PDE6G MT-ATP6 THPO GNAQ RBP3 MT-TC ARL3 CRX EYS OPA3 MT-CO3 PEX26 MT-ND4 PIK3CA IBA57 BRAF MT-TK MT-TL1 BEST1 MLH3 ROM1 DNM1L MSH2 MYO7A USH2A COL3A1 USH1C AKT1 PEX3 NR2F1 MMP19 NDUFS2 PCYT1A RGR WHRN MFN2 FAM161A SLC7A14 ACO2 CYP4V2 RLBP1 ABCA4 RHO MT-TV PDZD7 TGFBR2 ATF6 PEX1 PEX13 AIPL1 GUCY2D RP1 PRPF8 CDH23 COL4A1 PTPN22 MAK SEMA4A CERKL IMPDH1 PDGFB CACNA2D4 RDH5 MT-TQ MPL OPA1 CHM ZIC1 TRAF7 KCNV2 PEX2 SUFU CNGB1 PCDH15 HLA-A MT-ND5 USH1G ADGRV1 HARS1 PEX16 THSD1 MT-ND4L SOST FAN1 PEX11B NF2 TMEM126A POC1B ARSG PEX5 BAP1 ZNF408 CFAP410 TERT TULP1 SMO PEX12 MT-CO2 C8orf37 MT-TF BMPR1A AGBL5 MT-TW POU3F4 PEX6 MT-ND2 AIRE ITM2B PRPF3 ELOVL4 TRNT1 IDH3B MT-TS2 TCF12 CEP78 BTD PEX19 MYOC SMARCB1 OAT MSH6 PDE6C PMS1 BBS2 MEN1 TIMM8A SH3BP2 MLH1 RAB28 CLCN2 MFSD8 MT-ND6 PRPF31 KRAS ENG TOPORS TWIST1 ARHGEF18 PEX10 VCAN CIB2 PEX14 C1QTNF5 CACNA1F SETD5 HK1 RDH11 RP9 FA2H RPS20 SPATA7 ESPN IMPG2 TUBB2B AIP RPGR CYP1B1 ZNF513 CNGA1 FXN ANGPTL6 CWC27 GNAT2 C12orf65 HGSNAT SMARCE1 IMPG1 KIZ FLVCR1 ARL6 ADA2 RP2 HP_CRYPTOPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTOPHTHALMOS FRAS1 GRIP1 FREM2 FREM1 TWIST2 HP_CORNEAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_DYSTROPHY TGFBI RSPH1 SPAG1 PRDM5 CHRDL1 GSN PIKFYVE SLC25A4 FOXJ1 MCIDAS KRT16 GAS2L2 SLC4A11 DNAH1 CCDC151 TACSTD2 CHST6 DNAL1 CFAP221 GNAQ CRYGD DNAAF1 RPGR RSPH9 STK36 OSMR ZEB1 DNAH9 GLA OFD1 RSPH4A DNAH5 CRYBB1 COL8A2 CRYBA4 NME8 GAS8 COL5A1 KRT12 TTC12 GJA8 AGK OPN1LW CCDC65 CFAP298 CFAP300 DNAI1 DNAJB13 KRT17 SPEF2 CYP4V2 CCDC40 PLOD1 ZNF469 ZMYND10 COL1A1 CCDC39 ARMC4 TTC25 DNAAF2 DNAI2 DRC1 NEK10 CRYAA OPN1MW DCN RSPH3 LRRC6 TKFC CRYGC DNAAF5 CCNO COL5A2 HYDIN DNAAF6 UBIAD1 CCDC114 CCDC103 LRRC56 MAF DNAAF4 EXOSC2 KRT6B AGBL1 KRT6A DNAAF3 MBTPS2 CRYBB2 DNAH11 HP_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_SUBLUXATION GNA11 SALL2 CYSLTR2 BAP1 CHRDL1 GNAQ CBS SF3B1 LOXL1 P3H2 HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD POC1B PEX5 PRPF31 PROM1 CYP4V2 C8orf37 ZNF408 LRAT RLBP1 ABCA4 RHO TULP1 CRX PEX12 PDE6A PEX10 AGBL5 PEX14 POU3F4 PRPH2 ALMS1 PEX1 PEX13 ROM1 HK1 RDH11 AIPL1 RP9 PDE6G GUCY2D RP1 PEX6 SPATA7 PRPF8 RBP3 AIRE ARL3 EYS CYP1B1 CERKL ZNF513 IMPDH1 IDH3B PEX26 CNGA1 CACNA2D4 CWC27 RDH5 HGSNAT CHM KIZ MT-ATP6 PEX19 MYOC OAT PEX2 ARL6 CNGB1 BBS2 CLRN1 PEX3 PEX16 SOST PCYT1A SEMA4A RGR PEX11B TIMM8A FAM161A SH3BP2 RP2 TMEM126A HP_CHORIORETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSTROPHY PNPLA6 EP300 UBE3B RNF216 CREBBP VPS13B HP_RETINAL_ARTERIOLAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIOLAR_TORTUOSITY JMJD1C COL4A1 NDP LIMK1 RFC2 BAZ1B FZD4 ELN SEC24C MLXIPL HIRA GTF2I MT-ATP6 RREB1 TBL2 NOTCH3 GP1BB ARVCF GTF2IRD1 TBX1 CLIP2 UFD1 COMT LRP5 HP_ALTERNATING_ESOTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALTERNATING_ESOTROPIA COG8 APC SLC38A8 PPP2R5D DPP6 HP_OPTIC_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NEUROPATHY MT-ND6 NDUFAF5 C12orf65 LDLR NDUFAF1 MT-ND1 TIMMDC1 NDUFAF8 NDUFB10 TSFM NDUFAF2 MT-ND2 ABCG8 MT-ND5 MT-ND3 MT-CYB TXN2 NDUFB3 MT-ATP6 LDLRAP1 NDUFA6 ATN1 HLA-DRB1 NDUFS6 NOTCH3 NDUFB9 FOXRED1 AGXT NDUFA13 CYP1B1 MT-ND4 PCSK9 NDUFS2 NDUFS4 NDUFV1 NDUFAF4 APOB NDUFS3 NDUFV2 MYOC ABCG5 NDUFA1 MT-CO3 MT-ND4L NDUFS7 NDUFS8 NDUFA11 GP1BA NDUFAF3 TMEM126B NDUFB11 SH3BP2 NDUFS1 CLCN2 NUBPL CISD2 HP_CHOROIDEREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDEREMIA EPHA2 POU3F4 BEST1 UBE3B IMPG2 IMPG1 CHM PRPH2 HP_LIMBAL_DERMOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMBAL_DERMOID SALL1 KRAS AKT1 DACT1 FGFR1 PTEN HP_SEVERELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERELY_REDUCED_VISUAL_ACUITY SPATA7 RD3 RPE65 TULP1 ZNF513 CACNA1F IQCB1 CRB1 KCNJ13 NMNAT1 RPGRIP1 LCA5 NPHP4 GDF6 AIPL1 ALG3 CNGB3 IMPDH1 GUCY2D LRP5 IFT140 RDH12 CRX NHS LRAT CEP290 HPS1 CHST6 USP45 PCYT1A HP_ORBITAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORBITAL_CYST PAX2 PTCH2 PTCH1 SUFU BMP4 HP_RETINAL_EXUDATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_EXUDATE LRP5 TSPAN12 TREX1 CTC1 NDP FZD4 TINF2 HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT ATXN3 ATXN1 RFC1 EEF2 POLR3B STXBP1 ATXN2 HP_SACCADIC_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_SMOOTH_PURSUIT TMEM240 STUB1 GJB1 CACNA1G SPG11 TPP1 FMR1 PIK3R5 ANO10 KCND3 PMPCA SCYL1 SETX RUBCN ALS2 ATP2B3 CACNA1A ZFYVE26 PRKCG ATN1 HP_SEPTATE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTATE_VAGINA TP63 BCOR HOXA13 MNX1 GATA3 DHCR7 INTU MKKS UBR1 HP_BRACHYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYDACTYLY SNX14 PPM1D TWIST1 FGFR3 DYNC2LI1 PDGFRB NPR2 KRAS LMNA KCNAB2 WDR35 ARHGAP31 AFF4 COMP LTBP3 ARL6 FGFR1 RRAS2 FLNB UPF3B CTSK NXN TRPV4 ATRX PORCN IFT80 HOXD13 SMC1A TCF12 BPNT2 GDF6 IFT122 SHOC2 CHST3 IFT43 RUNX2 COL11A2 GDF5 PTCH1 RHOA SMARCD2 TBX15 TELO2 ROR2 IFT172 KCNK4 COL2A1 GJA1 GATA4 RAI1 BMPR1B SMARCA2 GNAS KDM5C MRPS16 SRCAP RMRP DOCK6 MRAS MYSM1 ESCO2 MAP3K7 PTCH2 DVL1 FAM20C SUFU MEGF8 DLL4 KIAA0586 WDR60 EXT1 IQSEC2 INPPL1 SKI ATP6V1B2 RAB23 SDHC SLC35D1 RBPJ TNNT3 WDR19 B3GLCT NKX2-5 OFD1 CPLANE1 ZFPM2 SALL4 NOG STAMBP FGFR2 LZTFL1 GATA6 WNT5A MAF SOS2 SLC2A1 COL10A1 RAD21 MIR17HG TTC21B RPL10 INPP5K TBX1 SIL1 CDH11 ADAMTS10 DPF2 C12orf57 ACAN ALX3 EXTL3 DEAF1 GNAS-AS1 SIN3A PDE4D GPX4 SMAD4 BMP2 MAFB GPC4 GHR NOTCH1 PTH1R TGFBR2 DVL3 CRIPT GJB4 NSUN2 GJB3 SEC23B CITED2 SOS1 DYM AKT1 PTPN11 TBC1D24 GATA5 TRIO CHRNA7 PNPLA6 FGD1 NBAS KDM6A YY1AP1 SPART SH3PXD2B SLC26A2 RNU4ATAC CSNK2A1 RAF1 RIN2 FBN1 CHSY1 PIK3R1 EFNB1 NEK1 PTHLH HUWE1 COL11A1 PTEN TRPS1 PIGN PIGS IHH RIT1 CILK1 LTBP2 TFAP2B SLC35C1 HDAC4 DYNC2H1 MAGEL2 BMP4 ALX1 PRKAR1A FTO PRMT7 EVC2 ITGB6 RB1 PDE6D PDE3A SDHD HOXA13 CEP120 PIK3CA DHCR7 GDF1 PPP1CB ARID1A TCTN3 MYMK LSS A2ML1 SLURP1 RPS6KA3 CCDC28B FGF9 MSX2 GLI3 PRDM16 FZD2 CHST11 MED12 IFT52 SEMA3E ADNP IFT140 PAH CHD7 MKKS RSPRY1 DCPS MACROH2A1 KAT6A SHOX PPP3CA RERE DONSON ANTXR2 IFT57 FLT4 POMP KCNJ2 AIFM1 NRAS JAG1 PTDSS1 SPECC1L CHN1 NIN CBL BHLHA9 ATP7A EXOSC2 ZDHHC9 RBBP8 REV3L NKX2-6 CUL4B NOTCH2 PCNT KLLN FAM149B1 GATA1 PLXND1 LIG4 ADAMTS17 MAP2K1 SMC3 WDR34 RASA2 KIF15 FAM111A BBS5 IFT81 TMEM67 KIF7 EHMT1 TCTEX1D2 ERF KIAA0753 KLF13 TBX22 KAT6B RLIM PUF60 BBS4 BRAF PGM3 KDM1A MBTPS1 PITX1 ZIC1 PCYT1A STX16 BBIP1 POP1 PAX3 POC1A CAMK2G WASHC5 FLII LZTR1 LONP1 CCDC22 LBR POGZ BBS1 FLNA EOGT NLRP3 SIK3 SDHB AHSG TMEM216 KDSR IGF2 RDH11 GJA5 CANT1 GABRD EVC USF3 CSPP1 BGN CWC27 RRAS IARS2 EIF2AK3 WNT4 TRIP11 ARID2 PAPSS2 HP_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNDACTYLY BMS1 TWIST1 DYNC2LI1 LRP4 GLI3 CLCN4 C15orf41 WDR35 ARHGAP31 WDPCP FANCL PTEN TP63 HEPHL1 LMBR1 GPC3 ARL6 SOST FGFR2 PWAR1 BRIP1 DDX11 MED13L PORCN HOXD13 MED25 RAB39B CHRNG SALL4 IFT122 GJA1 SMO CACNA1G ARHGEF6 MTRR IFT43 GDF5 FGFR1 RHOA DSP ZSWIM6 TRIM32 TELO2 ROR2 IFT172 EP300 DCHS1 ARX KIF7 IGF2 IL1RAPL1 CACNA1C NECTIN1 RAI1 FGFR3 FGD1 BCOR CKAP2L DOCK6 SLX4 FLI1 NEK1 ESCO2 FLNB GPC4 PIK3CA FRAS1 BBS4 PAX3 MEGF8 RAD21 NEDD4L MCTP2 DHODH DLL4 RPS6KA3 MID2 FANCA WDR60 RERE CDH3 NDN TBR1 MAPK1 MYH8 IQSEC2 ATP6V1B2 RAB23 NOG RBPJ MKKS XRCC2 WDR19 B3GLCT OFD1 CPLANE1 TSPAN7 WNT7A UBE2T EBP MAGEL2 SMC1A IFT80 STAG1 FANCB SNORD115-1 CTNND1 MYH3 MIR17HG TTC21B RBM10 PIGY FREM2 FANCM ERCC4 CDH11 TWIST2 CCNQ BBS10 LFNG DVL1 IRF6 DEAF1 BBS9 SIN3A SNRPN PDE6D BBS2 FBLN1 MYCN BMP2 SOX5 LZTFL1 TTI2 NOTCH1 BCR BRCA2 TGFBR2 AKT1 CEP55 DVL3 SYT1 CRIPT PTDSS1 NSUN2 NAA10 CREBBP TMEM94 ZNF41 BRCA1 FGF9 DLX5 ZNF711 TRIO MKS1 PNPLA6 MAD2L2 MED12 GRIP1 SLC25A24 NBAS YY1AP1 FAT4 SYP VPS13B GDI1 TCTN3 SETD5 POLR3A SLC9A7 CHSY1 KIAA1109 EFNB1 CCBE1 PWRN1 KMT2A RPL10 BLM LEMD3 CILK1 TFAP2B HDAC4 CDC45 XYLT1 CCDC22 BMPR1B BMP4 RB1 HDAC8 PALB2 MEIS2 CEP120 TTC8 RIPPLY2 FANCE SHANK3 DHCR7 SMARCAD1 PHGDH RTTN SC5D RBM8A RFWD3 FTSJ1 WNT10B HES7 CDH1 UPF3B CCDC28B TBX5 NIPBL GNE SALL1 HCFC1 FZD2 MEF2C BBS5 KIFBP TBCK PIEZO2 BHLHA9 TMEM231 FLNA MAP3K20 CXorf56 TXNL4A SBF1 GJB6 FANCF ADNP IFT140 SLC39A8 HOXA11 NPAP1 WASHC5 MESP2 RIPK4 FIG4 SMC3 SEM1 NXN FANCG SLC12A6 SEMA5A ASXL1 TBX15 CLCF1 PSMD12 FANCI KCNJ2 NEK9 FANCD2 CNKSR2 APC ABCC9 IKBKG SPECC1L IL11RA UBE3A SHH MECP2 SF3B4 SMOC1 HERC2 RBBP8 FGF10 REV3L MECOM BBS12 CEP290 RAD51 PTCHD1 ACSL4 CERT1 DYNC2H1 DACT1 FAM149B1 PLXND1 LIG4 IFT27 SDCCAG8 IFT52 USP27X ERF IRX5 CRKL IFT81 BBS7 EZH2 ITGB4 KIAA0753 LMNA ALG13 TBX22 AGTR2 ADAMTS3 RAD51C PAK3 PRKD1 CTNND2 ANKRD11 KCNJ8 MKRN3 ARCN1 TBC1D24 DLL3 BBS1 CD96 NSD1 ORC1 NECTIN4 FLII OTUD6B FRMPD4 SNORD116-1 WNT5A DLG3 FANCC PITX1 EPS15L1 BTRC EOGT ARL6IP6 SIK3 CTCF TMEM216 PLEC C8orf37 NPHP1 SUZ12 DMD WDR34 FERMT1 VAC14 KCTD1 CDAN1 BBIP1 SMAD4 MAN1B1 CUL4B USP9X DLX6 EED PUF60 ZNF81 HP_POSTAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_HAND_POLYDACTYLY DYNC2LI1 DYNC2H1 GLI3 DHCR7 TMEM216 TMEM231 SMOC1 SC5D IFT172 WDPCP INPP5E GPC4 IFT27 DDX59 IFT80 BBS10 SDCCAG8 LMBR1 GPC3 ARL6 SETBP1 CIBAR1 HYLS1 CC2D2A BBS9 CCDC28B GDF5 ZNF141 CEP55 B9D2 PDE6D ALX3 BBS2 PORCN KIF7 PIK3R2 BBS7 BBS5 BMPR1B KIAA0825 WDR60 WDR35 LZTFL1 MBTPS2 CCND2 HOXA13 TRIM32 IFT140 GLI2 TBX3 MKKS WDR34 TCTN2 TMCO1 BBS1 CD96 CSPP1 RPGRIP1L RPGRIP1 MKS1 C8orf37 TMEM107 TMEM67 NEK1 SUFU FLNA C2CD3 BBS4 NPHP1 TCTN3 CEP290 AKT3 EVC B9D1 RAB23 BBIP1 EVC2 TGFBR1 WDR19 OFD1 SHH BHLHA9 WNT7A SMO FGFR2 COL2A1 BBS12 MEGF8 PLAA ARMC9 CEP120 TTC8 LBR TTC21B HP_ABNORMALITY_OF_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METACARPAL_BONES RSPRY1 CTBP1 GLI3 DHCR7 ARHGAP31 TCTN3 PTEN GDF5 RECQL4 COMP MAP3K7 LTBP3 SETBP1 PEX7 FLNB RPS6KA3 HHAT TP63 PORCN CPLANE1 RNU4ATAC B3GALT6 FBLN1 NIPBL IFT80 HOXD13 COG4 B3GLCT TCF12 SALL1 SALL4 FGFRL1 BPNT2 MMP14 LRP5 CHST3 RUNX2 IFT52 BHLHA9 COL11A2 PTCH1 FLNA PDE3A SMARCA2 SCARF2 TWIST2 HOXA13 LONP1 SHOX BMP2 LBR COL2A1 BMPR1B TBX3 PTHLH FGFR1 DCHS1 MKKS SLC26A2 CHSY1 LMBR1 RAB3GAP2 FIG4 SMC3 GNAS MMP2 NOG TONSL TBX5 RAB33B GALNS DONSON DOCK6 PRKAR1A IHH PHYH MYSM1 FGF16 P3H1 NEK1 CDKL5 GLB1 ROR2 MECP2 RAD21 KCNJ2 NFIX GABBR2 DLL4 KIAA0586 SLC39A13 APC PRG4 PRMT7 FANCI PTDSS1 FGFR3 RBPJ PTH1R FBXL3 NTNG1 FBN1 WNT7A SMOC1 ADAMTSL2 SHH DYM REV3L SMC1A NONO LETM1 INPP5K SIL1 PCNT ADAMTS10 FAM149B1 NF2 PLXND1 EIF4A3 LRP4 EXT1 NSD2 STXBP1 EXTL3 GNAS-AS1 PDE4D ESCO2 GPX4 SPARC RMRP CLCN7 EXT2 KIF7 NPR2 KIAA0753 ACVR1 MAFB NOTCH1 VPS13B AKT1 TRPS1 SLC25A24 SRY CPLX1 DDR2 KIF22 IFIH1 ZIC1 PCYT1A STX16 CD96 NHS FGF9 POC1A SETD5 COL9A3 B3GAT3 FZD2 EOGT SH3PXD2B TRIO TMEM216 CANT1 PTCH2 FERMT1 VAC14 KMT2A PIGS CSPP1 BGN INTU OFD1 HDAC4 XYLT1 CWC27 FAT4 TWIST1 ABCC9 DNMT3A HDAC8 TRIP11 SUFU PDE6D GUSB HP_ABNORMALITY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FINGER TWIST1 CTBP1 PHF6 PIGH AMMECR1 KCNAB2 ARHGAP31 DNAH1 UBE3B UPF3B SOST CC2D2A FGFR2 MOGS TP63 TMEM138 DYNC2LI1 MFAP5 FGFR3 ARHGEF6 KMT2A COL2A1 SF3B4 WDR35 COL11A2 NR5A1 PTCH1 DSP RUNX2 BPTF NUP133 EMG1 B9D1 KCNK4 FGFR1 ARX MYH8 DLG4 ROR2 RAB33B BMP15 PIEZO2 GNAS BCOR BBS2 RMRP ESCO2 TCTN2 MRAS SLX4 SUFU CHRNG KMT2D BBS4 SFTPC AFF2 NFIX BUB3 DHODH ARL3 ATRX AKT3 KDM6B TBR1 FANCI IGHMBP2 BRF1 FBXO11 DOCK3 MYH3 EVC2 ABCC8 SFTPA2 GDF5 ZFPM2 SOX9 SALL4 EBP MAGEL2 IFT80 UFD1 LETM1 COL6A3 NUP107 LEMD3 KIAA0586 MEGF8 SNORD115-1 SH3PXD2B ATP6V1B2 SH2B1 FOXJ1 FANCE TRPV4 RAB3GAP1 SLC9A6 EP300 LFNG ALX3 DNAL1 ANKRD11 EXTL3 DEAF1 SIN3A CUL7 WDPCP ACTG2 PIGP DOK7 BMPR1B FANCL NPR2 EFTUD2 GLI1 L1CAM BCR CEP41 IQSEC2 RETREG1 FBN1 CRIPT DOLK CREBBP OTUD6B HPGD STK11 FKTN CRPPA EZH2 NALCN NSD2 RAB18 C8orf37 FANCG ADAMTS10 CHRNA7 FZD2 TNNT3 MAD2L2 ZMPSTE24 MED12 ARSL PPP2R1A HINT1 VPS13B GJA8 RAF1 DYNC2H1 KCNA1 SMARCE1 CHSY1 KIAA1109 NEK1 TGFBR2 HUWE1 RFWD3 BRAT1 PIGN RPL10 COL5A2 BLM ABL1 RIT1 NOG JAG1 PTEN TRAIP PSMC3IP TNNI2 XYLT1 TCF4 HIVEP2 LRP4 TAPT1 NR2F1 CWF19L1 RECQL4 TPM2 DNMT3A BRCA2 PALB2 PDE6D ASAH1 CCN6 NSDHL PRDM5 ACSL4 RTTN TUBB MCIDAS SC5D STXBP1 CHD1 EIF2AK3 A2ML1 MAPK8IP3 SMARCD1 COL6A2 HES7 TGFB3 RPS6KA3 CCDC28B MSX2 PIGL AMER1 PRDM16 PLOD1 FTSJ1 KIAA0825 TBCK GMNN IFT52 HYOU1 BHLHA9 CANT1 OFD1 PDE3A MBTPS2 RREB1 IFT140 HOXA13 GJB6 HOXA11 PAH CFAP298 SCN2A TMEM216 TMCO1 GLI3 TRMT10A NXN TBX5 MKS1 IGF1 DONSON ANTXR2 CTSC RASGRP1 ADGRG6 WDR60 SMARCB1 CLCF1 FLT4 PPP2R3C CCDC39 ARMC4 ASPN PSMD12 NUP37 ABCA3 POR SLC25A24 CNKSR2 PRG4 ERCC5 RIPK4 LIFR FLNA LAMC2 NAA10 RTEL1 RYR1 SHH EXOSC2 ZDHHC9 TBX4 GP1BB REV3L BBS12 ERCC1 RAD51 SLC26A2 PTCHD1 SLC16A2 ATN1 NLRP1 PCNT LAMA3 PSMB9 COL3A1 ADAT3 LIG4 IFT27 ERCC6 INPP5E WDR19 ALG3 SMC3 HRAS HOXD13 LMBR1 LOX ERGIC1 BRAF CRKL EXOC6B BBS7 CBS PIGO TBX22 CENPJ RLIM ADAMTS3 RAD51C TRPS1 GNPTAB PAK3 GLI2 CDC42 TMEM67 PITX1 TBX1 TBL1XR1 CD96 RPGRIP1L SETD5 COL11A1 LZTR1 CCDC22 BMP4 MATN3 SACS WNT5A TFAP2B MGAT2 KDM5C KDSR PIGW TTC25 DMD PRKAR1A SLC35A3 NRTN TGFBR1 AHI1 RRAS IARS2 KIF7 MAT2A IFT172 CUL4B ANKLE2 RPL11 IHH FAT4 KDM6A TBX3 B4GALT7 ACAN OSGEP SMS RSPH1 PIGY PDGFRB TMEM231 LIMK1 PAFAH1B1 KIFBP FSHR CCNK ARL6 ELN CTSK COL1A2 CEP55 ATR CLIC2 FGFRL1 IFT122 ALDH18A1 DNAH9 FAM13A ORC6 WDR4 CDKL5 RSPH4A KANSL1 ERCC8 PHGDH HMGA2 COL17A1 CCDC65 NLRP3 IGF2 GATA4 IL1RAPL1 GJA1 SRCAP MYMK DOCK6 ZC4H2 PIK3CA SKI MIR140 LMNA NOD2 DLL4 COL6A1 C1R RERE NDN MAPK1 GCK MASP1 EXT1 CTU2 FANCB INPPL1 SLC18A3 FIBP UBR1 DNAAF6 CPLANE1 TSPAN7 WNT7A SEMA3D STAMBP BMP1 ASXL3 SOS2 XYLT2 PIGV TMEM237 RNF216 ERCC4 DMXL2 INPP5K FLNB TWIST2 BBS10 BICD2 SMAD3 ZNHIT3 BBS9 MTOR NHS KCNJ11 COL12A1 BMP2 WNK1 SLC25A46 ACVR1 LZTFL1 CNTN1 NELFA GGCX GJB4 NSUN2 GJB3 TRRAP RAB11B DDR2 PIK3R1 BRCA1 EMC1 CSPP1 DNAI1 SMARCAD1 ZNF711 PNPLA6 COL5A1 GDI1 RBPJ RAB3GAP2 EFNB1 BNC1 TTN EFEMP2 BUB1 PSMB4 LRRC6 DNAAF5 USP9X INTU SOX5 HDAC4 CYP26B1 PYCR2 MRPS22 TERT SON DPP9 SATB2 MTM1 CEP120 ARID1A G6PC3 KAT6B RBM8A CIBAR1 SHOX FGF9 DLX5 SAMD9 COG4 TUBB3 GATA6 RFT1 FBLN5 NEB CXorf56 SCARF2 TCTN3 ECE1 FRAS1 SEMA3E FANCF PEX6 PTHLH TGFB2 CHD7 MESP2 ADAMTS2 GPR101 HYLS1 SPEF2 KCNH1 HDAC8 NIPBL GATA2 ZNF469 YY1 ASXL1 KIAA0556 PTRH2 SLC2A10 AIP RUSC2 RPL15 GABBR2 AIFM1 TPRKB SLC39A13 MORC2 SFTPA1 NRAS PTDSS1 SPECC1L ABCA12 NIN CBL DPYS TRIM8 MECP2 HERC2 SMO ADAMTSL2 FGF10 DYM MECOM CEP290 PUM1 ZNF423 DPF2 CENPE SYNE1 NOTCH2 DACT1 CHST3 MBD5 SMOC1 PLXND1 GAS2L2 EIF4A3 EDNRB OCRL USP27X PPP1R15B PAX3 RASA2 DHCR7 PDE4D ATAD1 FBN2 ZNF141 B9D2 AP4M1 ZBTB16 PTF1A BMPR1A SPIDR KIF1A KIAA0753 KLF13 MUC5B DNAH5 PQBP1 KCNJ8 ORC4 KDM1A CRLF1 IFIH1 WDR73 PCYT1A PDX1 PACS1 TP53RK PTPN11 CTDP1 RET COL1A1 MAPRE2 TRIO TGDS PEPD DNAAF2 BRIP1 FERMT1 VAC14 MYBPC1 SCN9A CCNQ STUB1 BGN BBIP1 CWC27 CDT1 IDUA KPTN EVC RPL26 EED TRIP11 LMNB2 ALOX12B CLCN4 NEK9 ARID1B COMP GPC3 EDA2R RRAS2 MED25 OPA3 STN1 BANF1 DHPS GAS8 MEGF10 TRIM32 PI4KA SETBP1 RAI1 SLC35A2 TFAP2A PIGQ CHST14 CHRND RPGRIP1 GATAD2B CKAP2L PTCH2 DVL1 RAD21 CAPN3 EXOSC9 PSMB8 FANCA KLHL7 WFS1 DSE RAB23 TCTN1 XRCC2 DLX3 NKX2-5 NTNG1 DNAAF4 PIK3R2 ARL13B ACTL6B ATP11A CEP104 GTF2IRD1 COG8 GPKOW MIR17HG CEP57 FANCM GPC4 XRCC4 SUMF1 ARMC9 SNRPN CLIP2 ERCC2 COMT CLCN7 RSPH9 PLAA POLR3H MAFB PCGF2 NOTCH1 HIRA AKT1 CPLX1 RAC1 TMEM94 GNAO1 WDR34 ZNF41 SOS1 ALX4 DNAJB13 TBC1D24 GATA5 KCNK9 PARN FGD1 PLK4 SYP SEMA3C SLC9A7 POLA1 PWRN1 CCNO PIBF1 ARID2 IGF1R ALX1 LRRC56 PMM2 POLR3A CCDC8 RNU4ATAC KMT2E MGP CEP152 NGLY1 KRAS HHAT CFAP221 B3GALT6 ZIC3 B3GLCT SALL1 HCFC1 STK36 BBS5 PUF60 WASF1 LAS1L NME8 LAGE3 MKKS EDN3 RSPRY1 BCORL1 PRKDC MACROH2A1 FANCC NKAP ACTA2 SLC12A6 TMEM107 NFASC SMAD4 TBX15 PRKG1 IFT57 ALOXE3 KCNJ2 FANCD2 IKBKG COL10A1 DVL3 IL11RA BAZ1B UBA1 RBBP8 NONO ACTG1 SDCCAG8 MAP2K1 YWHAE CCDC151 MUSK KIF15 ATRIP IRX5 ZBTB20 ECEL1 INS LMOD3 KLHL40 SMC1A IFT43 ALG13 PACS2 RSPO2 SPART PRKD1 DLL3 BBS1 POC1A FLII CHRNA1 FRMPD4 MAP3K7 C12orf57 CCDC40 PNKP SNORD116-1 MYOD1 EOGT CTCF HIC1 NPHP1 PHIP GABRD RSPH3 SMARCA4 ITGB4 HYDIN DPAGT1 SNRPB PIGG RPS19 ABCC9 SCN1B ZNF81 DNAH11 SPAG1 GJA5 DDX59 COG7 PWAR1 PORCN RAB39B DNAAF1 LRBA SOX11 AEBP1 TELO2 SNIP1 SHANK3 SLC25A22 SMARCA2 MMP2 USP7 FLI1 TMEM70 C2CD3 UNC80 MCTP2 LARS1 ARVCF MID2 ATL3 EXT2 CCDC103 EDA UBE2T HERC1 MAF GDNF STAG1 MYH11 CCND2 TTC21B RBM10 RFC2 SIL1 FOXP1 ACOX1 TERC GORAB GPX4 MYCN JMJD1C TCF20 RPL5 AUTS2 CITED2 BUB1B PHF8 SOX4 B3GAT3 YY1AP1 CPT2 CDC45 CDC6 CCBE1 MYLK PIGS SEC24C IFITM5 NEUROD2 RB1 DNAAF3 PGAP2 MEIS2 NUP88 TTC8 RIPPLY2 GDF1 SMARCC2 STAG2 HESX1 SMG9 WIPI2 CHD4 RPGR CHST11 SPEG ADNP LONP1 NPAP1 TRIP13 P4HTM CFAP300 EIF2S3 FAM149B1 FIG4 CASK ACTA1 ZMYND10 MLXIPL DNAI2 ORC1 LMX1B APC NEK10 LAMB3 OBSL1 CHN1 UBE3A TRAPPC9 NKX2-6 RAPSN LBR WNT10B GATA1 GTF2I KLHL41 KIF22 ATP13A2 KCNE5 COG5 LTBP2 AGTR2 TTC12 MKRN3 BIN1 ADAMTSL1 NSD1 SIM1 WASHC5 PAX1 DLG3 SIK1 TBL2 SUZ12 DRC1 PTH1R CCDC114 CD55 MAN1B1 PGAP3 FOXE3 ACTB PEX1 HP_BROAD_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PALM IHH FGD1 ASXL1 ADAMTS10 GATA1 GPC4 RAI1 BCOR PPP2R3C FBN1 COL2A1 FGFR1 PRKAR1A AIFM1 TBL1XR1 GPC3 FHL1 SPECC1L RPS6KA3 IFT80 B3GLCT DYM OFD1 PTH1R LBR HP_ABNORMAL_THUMB_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THUMB_MORPHOLOGY TWIST1 CTBP1 LIMK1 GJA5 NEK9 FBN2 FANCL FBN1 LMBR1 MAP3K7 COG7 GPC3 ELN NXN BRIP1 FGFR2 CEP55 TP63 MED25 SMC1A CLIC2 SALL4 FGFR3 FGFRL1 OPA3 BMP2 SMO CHD7 ALDH18A1 WDR4 SF3B4 WDR35 CC2D2A MYH3 PTCH1 BPTF NUP133 USP9X PHGDH ROR2 COL2A1 EP300 GJA1 SNIP1 SETBP1 TFAP2A KCNH1 SEMA3E SRCAP RPGRIP1 GNAS COL6A1 ZC4H2 ESCO2 SLX4 NUP107 GPC4 SUFU BCOR DVL1 MEGF8 RAD21 DHODH CEP290 EXOSC9 FANCA KDM1A B9D1 FANCI FANCB INPPL1 ATP6V1B2 RAB23 NOG FIBP XRCC2 TNNT3 TMEM67 OFD1 GDF5 SEMA3D UBE2T WNT5A SHH GTF2IRD1 GDNF LETM1 MED12 GPKOW MIR17HG FGFR1 FANCM RFC2 ERCC4 PSMD12 FLNB FANCE SLC9A6 NALCN ACAN SUMF1 NSD2 ANKRD11 EXTL3 SIN3A CLIP2 WDPCP DSE BMPR1B RPL5 EFTUD2 MAFB ACVR1 GLI1 PCGF2 L1CAM OSGEP FLNA BRCA2 NELFA CRIPT CPLX1 NSUN2 CREBBP OTUD6B RAD51C WDR34 MSX2 BRCA1 CRPPA FGF9 CSPP1 EZH2 ALX4 PHF8 TBC1D24 DLX5 HOXD13 TCTN2 FANCG ADAMTS10 B3GAT3 FZD2 MAD2L2 GLI3 GATA4 GJA8 DYNC2H1 TCTN3 SEMA3C CHSY1 KIAA1109 NEK1 PTCH2 RECQL4 KMT2A RFWD3 SATB2 IHH MKS1 INTU RUNX2 TNNI2 XYLT1 BMP4 PYCR2 TMEM107 TAPT1 RB1 CWF19L1 SON TPM2 HDAC8 PALB2 MEIS2 HOXA13 LIFR DHCR7 MGP G6PC3 CHST14 IFT80 RBM8A COL6A2 SLC26A2 WIPI2 TBX5 CPLANE1 KIF7 NIPBL PTEN ZIC3 B3GLCT SALL1 SYNE1 CHST11 RFT1 NEB BHLHA9 ECE1 FRAS1 FANCF ADNP LONP1 COL12A1 PAH EDN3 TMEM216 RIPK4 FIG4 SMC3 FANCC ACTA1 PTRH2 ADGRG6 WDR60 EED PPP2R3C RPL15 FANCD2 TPRKB APC DVL3 CHN1 NAA10 BAZ1B UBA1 RPGRIP1L EXOSC2 SMOC1 FGF10 REV3L ACTG1 ERCC1 RAD51 DACT1 CHST3 PCNT PLXND1 LIG4 EIF4A3 GTF2I KLHL41 EDNRB ALG3 LRP4 HYLS1 ATAD1 B9D2 AP4M1 ZBTB16 ECEL1 LMOD3 LTBP2 BMPR1A CDC42 KLHL40 RLIM RSPO2 SPART PRKD1 CRLF1 WDR73 NSD1 SETD5 PACS1 TP53RK RET COL6A3 MGAT2 TRIO TBL2 SUZ12 CANT1 VAC14 MYBPC1 STUB1 NRTN TMEM231 ANKLE2 RPL11 RPS19 LAGE3 RPL26 ACTB ALG13 PUF60 LMNB2 HP_LARGE_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_HANDS NSD1 INSR KDM5C PHF8 SHANK3 GPR101 ASNS RPS6KA3 EZH2 PHGDH BSCL2 FIBP FOS MEN1 AIP KIT PSAT1 SDHB PACS1 EED SUZ12 HERC1 AGPAT2 PEX6 CAV1 ABCC9 POLR3A RNU4ATAC PPARG CAVIN1 PIGL SDHC PEX1 HP_PREAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_HAND_POLYDACTYLY TFAP2A PHF8 HOXD13 TCTN2 EFTUD2 CTBP1 DACT1 RPGRIP1 NSD2 SMO IFT80 WDR60 LMBR1 SALL1 LETM1 SALL4 DYNC2H1 TCTN3 HYLS1 CEP290 EXTL3 NEK1 CEP55 B9D2 WDPCP CPLANE1 B9D1 FGFRL1 CHN1 MKS1 MAFB GLI3 WDR35 CC2D2A TMEM67 TMEM231 GLI1 OFD1 BMP4 RPGRIP1L SHH KIF7 BHLHA9 NELFA TMEM107 CPLX1 GJA1 FGFR2 TMEM216 WDR34 PUF60 CSPP1 HP_ULNAR_CLAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_CLAW SBF2 MPZ GDAP1 NEFL MPV17 PMP22 EGR2 PRX HSPB1 HP_HAND_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_OLIGODACTYLY SF3B4 SEMA3E DLX5 SMOC1 CHD7 BHLHA9 NIPBL WNT10B ESCO2 PORCN WNT7A RECQL4 HP_ADDUCTED_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDUCTED_THUMB LIFR TP53RK LIMK1 KCNH1 RFC2 COL6A1 ACTA1 NEK9 TNNT3 RET COL6A3 NUP107 FBN2 FBN1 CHST14 SLC9A6 ECE1 RBM8A GTF2I KLHL41 ADGRG6 EDNRB ALG3 TBL2 NALCN COG7 COL6A2 TNNI2 ELN SEMA3C MYH3 L1CAM ATAD1 KIAA1109 EXOSC9 TPM2 CLIP2 TPRKB COL12A1 MYBPC1 DSE AP4M1 ECEL1 MED25 SYNE1 STUB1 LMOD3 NRTN ALDH18A1 CHST11 WDR4 RFT1 BAZ1B NEB KLHL40 PHGDH PCGF2 UBA1 OSGEP NUP133 SEMA3D TAPT1 ANKLE2 EDN3 GTF2IRD1 CRLF1 WDR73 LAGE3 GDNF ERCC1 CRPPA ALG13 GPKOW HP_TAPERED_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_FINGER RPL10 KMT2E SMARCAD1 PHF6 TRIO ACSL4 AMMECR1 KIFBP SLC39A13 LAS1L ZNHIT3 TCF4 CCNK RPS6KA3 SCN9A KCNE5 DLX5 COL12A1 IRX5 EXOC6B RETREG1 CHD4 TCF20 KMT2A PIGV WASF1 CDC42 CDKL5 SLC25A46 WNK1 SMC1A PCGF2 VPS13B ECE1 KIF1A TELO2 GJB4 OTUD6B BRF1 GJB3 KDM1A GPR101 RAB11B TP53RK CRLF1 NR2F1 BCORL1 ADAMTSL1 EIF2S3 SNIP1 FIG4 ATRX GJA1 OFD1 SIM1 CHST14 SLC12A6 GATA2 HDAC8 MYMK ASXL1 PAX1 GATA4 MAPRE2 AIP KDM5C RUSC2 KDSR UNC80 CPT2 PHIP VAC14 HUWE1 DSE PIGN FBXO11 INPPL1 DOCK3 USP9X RUNX2 TNNT3 HIVEP2 MAGEL2 IARS2 KIF7 ARX MAF ABCC9 TRAPPC9 PUM1 HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS OTUD6B PTDSS1 COL1A2 KCNH1 PIGG NFASC BRAF IFITM5 GORAB FGD1 COL5A1 RPS6KA3 HRAS PLAA FBN1 SMS HP_HAND_CLENCHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_CLENCHING FLNB ATP6V1E1 SLC6A9 GLE1 MAPT BCOR NEB CNTNAP1 DST SMG9 KIAA1109 KCNA1 MOGS CDK5 GTPBP2 TPM2 SCYL2 WDR73 L1CAM TBR1 BICD2 HP_ABNORMALITY_OF_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CARPAL_BONES BMPR1B FLNB GPC4 XRCC2 EIF2AK3 RECQL4 COMP TONSL KIF22 MAP3K7 LRP4 FGFR3 SALL4 SHOX NIN MMP2 CHST3 SETD2 POR SLC10A7 EXOC6B TBX5 B3GALT6 FBLN1 DYNC2LI1 MMP14 NOG PIGV MAFB BHLHA9 GDF5 FLNA LMBR1 NANS HOXD13 GLI1 PTH1R ALDH18A1 GNPTAB EVC HOXA13 LONP1 ROR2 COL11A2 DDR2 MBTPS1 PITX1 RSPRY1 CHSY1 ATP7A PAX3 MATN3 MACROH2A1 DYM CANT1 NXN RMRP ESCO2 WNT7A RBM8A NOTCH2 APC UFSP2 BGN MYH3 SLC35D1 TRPV4 EXTL3 EVC2 XYLT1 SMOC1 EBP SHH FGFR2 IHH COL2A1 GPC3 TRIP11 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 NALCN LIFR MAP3K7 TNNI2 DACT1 DHCR7 TNNT3 RAB3GAP1 FBN2 HOXA13 GDF5 MYMK COMP ADGRG6 TGDS SALL1 HRAS PAX3 MYH3 SHOX RAB3GAP2 MUSK TPM2 CRKL MYBPC1 SLC26A2 KLHL7 MAPK1 CILK1 BMP2 PIEZO2 MAFB BMPR1B TBX22 BCR ASXL1 RBM28 WNT7A PEX1 CD96 HOXD13 ALG9 FLNA LBR HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD MEI1 SMARCAD1 PIGY HOXD13 CCDC22 PACS1 TTC37 WNT3 PHGDH MKS1 F7 ZMPSTE24 FGFR3 KIT ADGRG6 GATA6 FLT1 GJB2 FANCB PLAGL1 PIGW MCTP2 IGF1 CORIN POMP HELLPAR MUSK ITGB2 POR LORICRIN BCL10 STOX1 TP53 HSPG2 FOXF1 NRAS PIGO KHDC3L LMNA CFH STK11 CD46 PIGL HYMAI SCARF2 GLE1 TAPT1 F13A1 PGAP3 WASHC5 FERMT1 TBC1D24 PGAP2 F13B PIGV NLRP7 CFI HP_SHORT_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UMBILICAL_CORD ZMPSTE24 PHGDH ADGRG6 MUSK LMNA HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH FGFR3 CTBP1 KCNJ1 NEB NEK9 F7 KRAS ARHGAP31 SLC13A5 TSFM GJB2 DNAH1 GPC3 RRAS2 CASP10 BRIP1 MAPT MYLK CBL LTBP3 SCN8A PEX1 WDR35 REN CC2D2A CHMP2B WWOX DHPS TTC7A CYP11B2 GFPT1 LGI4 NDUFS3 NUP133 RAF1 GAS8 MEGF10 CCDC174 HRAS GBA RNF113A CFI RAI1 SLC35A2 PTCH1 CHRND RPGRIP1 PDSS2 PKLR COL6A1 MRAS SLX4 PEX10 ESCO2 NUP107 CACNA1B WRN INPPL1 BRAF RAD21 BUB3 CEP290 GREB1L SLC26A2 TPM2 EXOSC9 AQP2 SLC25A20 FANCA WDR60 TRIP11 KLHL7 PEX12 NDUFS6 IGHMBP2 FOXF1 PHGDH TSEN54 TAF1 SEC24D XRCC2 TMEM67 ASCL1 WNT4 MPL MYO9A HYMAI SOX9 FGF8 DNAAF4 CRTAP SERPINH1 EBP HSD17B4 EEF1A2 MAGEL2 KCNB1 PMM2 GTF2IRD1 UFD1 LETM1 COL6A3 NDUFS8 NDUFAF3 FANCB TDGF1 SNORD115-1 TMEM126B NPC1 GPKOW MEI1 PIGY CEP57 FANCM FOXJ1 PLEC AGRN CHRNG ACTA1 CPT1A ZMPSTE24 EP300 DIS3L2 FGB CLTC DNAL1 EXTL3 DEAF1 SIN3A SNRPN CLIP2 COMT POR HESX1 WDPCP DOK7 GP1BA RSPH9 ERCC3 TP63 UBA5 NDUFS2 ALPK3 NDUFV1 CFH PCGF2 NEU1 ATP6V0A2 TSHR NOTCH1 DMPK HIRA KCNQ1 BCR TBCK PTH1R CARS2 FBN1 KCNE1 CPLX1 TGFBR1 CREBBP ATN1 CTSA PREPL SLC25A1 WDR34 PARS2 CHRM3 SOS1 CRPPA TPM3 NALCN DNAJB13 TMCO1 NSD2 TRAPPC12 WNT3 MKS1 IL2RB MAD2L2 MED12 GRIP1 LARS2 VPS13B PACS1 NODAL TALDO1 DYNC2H1 MYH3 PEX13 ALPL SLC18A3 NEK1 SLC12A1 TGFBR2 NDUFB3 PWRN1 PBX1 KIDINS220 USP7 KMT2A COL11A1 LORICRIN PIGN CCNO FGF12 RPL10 COL5A2 ACTG2 SLC26A3 RIT1 TREM2 DNA2 LRRC56 GJA1 ERCC5 TAPT1 KCNA2 DLL1 ALG8 ERBB3 RET COL2A1 HDAC8 PALB2 NDUFS7 F5 PAH ASAH1 CAMKMT C9orf72 FGA DNM1 OSTM1 DHCR7 KLHL41 MSX1 MGP MCIDAS SCN3A STRADA SERPINC1 PEX16 A2ML1 GPC6 ALB COL6A2 NUP188 GUSB MT-ND3 CLCNKA AVPR2 CFAP221 RNU4ATAC AMER1 B3GLCT SYNE1 MRPS22 F2 STK36 ADAMTS3 TP53 HSPG2 PLOD1 ITGB4 MYF6 OFD1 RREB1 FOXE1 NME8 HOXA13 SELENON COQ2 HNF1B NPHP3 COL12A1 CORIN C1QBP WASHC5 CFAP298 PHOX2B TMEM216 VAMP1 ALG12 PEX19 NDUFS1 ITGA2 ALG9 LMOD1 ACTA2 MYL1 NFASC SMAD4 PRKG1 ADGRG6 FLT1 SOX18 CCDC39 ARMC4 CNTNAP1 FAS FANCD2 DISP1 SNTA1 CYP11A1 BIN1 RYR1 LIFR BAZ1B KHDC3L PAFAH1B1 TRPV4 CYFIP2 CALCRL UBA1 BICD2 SOX2 CLCNKB DYNC2LI1 F8 GYPC COL1A1 GP1BB MYH7 SCN5A FGG SLC12A3 RAD51 CERT1 PEX11B KIAA0586 SLC17A5 ADAT3 VCP KIT YWHAE FLNB CCDC151 EXT2 MFAP5 HADHB MAP2K2 HYLS1 MUSK GNPTAB LOX ERGIC1 CRKL NDUFA6 LMOD3 SF3B4 TGFB3 PIGO UROS ERF KLHL40 COL1A2 EPHB4 ANXA5 KAT6B PIGL RAD51C PUF60 NDUFS4 LMNA SQSTM1 HBA2 ALG1 NDUFA1 ERCC2 TBX1 PLD1 TBC1D24 NDUFA11 GMPPB FLII SETD5 CHRNA1 MYL2 LZTR1 TRAIP CCDC22 CCDC40 SNORD116-1 MYOD1 PRPS1 OPA1 EOGT CHAT CTCF HIC1 PIGW TTC25 POMP HELLPAR TMEM106B GATA6 TBCD SMN1 RSPH3 NDUFB9 ITGA8 ATRX HYDIN GABRA5 SLC25A26 SLC25A19 CD46 RRAS MAT2A CACNA1D BUB1B CYP11B1 CALM2 RPL11 SNRPB PRKCD RPS19 LAGE3 FAT4 NOS3 OSGEP DNAH11 NUBPL RSPH1 GLE1 SPAG1 LIMK1 SOX3 MPLKIP PRRX1 XIST JAK2 FANCL FGF20 SOX17 MT-ND2 SLC6A9 DNM2 ELN CNKSR2 FOXH1 DPM2 SLC1A2 PWAR1 CEP55 GBE1 PSEN1 THPO KIF14 DNAAF1 CACNA1C EPB41 FGFRL1 FUT8 NRAS DNAH9 WDR4 SYNJ1 MTM1 ITGA6 RSPH4A TRAK1 NDUFV2 SLC5A7 CRB2 PEX6 SHOC2 NDUFB11 CCDC65 GABRA2 HSPA9 SCN10A COL13A1 MYMK DOCK6 ZC4H2 FLI1 GPC4 TIMMDC1 OTX2 NDUFAF8 NDUFB10 SIX3 GAS1 TMEM70 FASLG PLAGL1 GRN MCTP2 AGGF1 ARVCF DLL4 PRUNE1 KIF7 TGIF1 NDN MAPK1 B9D1 AGTR1 DONSON FOXRED1 IQSEC2 BCL10 SLC9A3 SLC35D1 RBPJ DNAAF6 NDUFAF4 CCDC103 PPARG UBE2T BNC2 F13A1 ZBTB42 SMC1A HNRNPK SOS2 LRP5 PIGV MYH11 NUP88 CACNA1A PEX14 SYCP3 PADI6 ATP8B1 RFC2 ERCC4 GABRG2 CAV3 SNAP25 CLCN7 SMAD3 SPINT2 FGFR1 NECAP1 SZT2 MYCN CHRNE JMJD1C VANGL1 AARS1 WDR62 ENPP1 MAFB SPTB STK11 CNTN1 BRCA2 NELFA YWHAG DNM1L BRCA1 NR3C2 CSPP1 DNAI1 SMARCAD1 HOXD13 TCTN2 TARS1 FLVCR2 KCNJ11 PLVAP MTMR14 SLC25A24 ALX4 AHCY COL5A1 NDUFAF2 COX15 ABCB4 TCTN3 POLR3A CPT2 PIEZO1 EFNB1 CCBE1 EFEMP2 CFL2 BUB1 LRRC6 ABCC6 ASCC1 DNAAF5 PIGS STOX1 DHDDS GPHN USP9X FZD4 SEC24C PPM1B GLDN MPZ TMEM107 HCN1 SYT2 PEX2 DNAAF3 SON SYNGAP1 FLT4 PGAP2 RSPO2 KCNE2 FANCE TRIP4 NDUFAF5 ALDH7A1 IFT80 RFWD3 ACTL6B PSAT1 SMG9 LHX1 ATP6V1A CDON NIPBL GTF2H5 GLI3 RPGR ACE SLC27A4 PEX5 SCARF2 SEMA3E FANCF NTRK2 LONP1 PEX26 NECTIN1 NOS1AP TGFB2 NPAP1 CHD7 CALM1 TRIP13 ADAMTS2 FERMT1 CFAP300 ABCA12 FIG4 SMC3 GTF2E2 MAGED2 ZIC2 CYP19A1 SPEF2 TTC37 FARSB FANCG NPC2 FUZ ASXL1 ZMYND10 ITGA2B COQ7 COL3A1 WDR81 KIF5C FANCI IGF1 TRAF7 DNAI2 PIGA FBLN5 AKAP9 TPRKB NEK10 TMEM231 AGT UBE2A SPTA1 MAP2K1 NDP PROKR2 MT-ND1 KCNJ6 HACD1 RPGRIP1L ITGA7 HTR1A PNPO HERC2 NEK8 ANK2 SHPK AP3B2 STXBP1 NUS1 RAPSN LBR AIMP1 PEX3 PKHD1 GRIN2D ENG GATA1 WNT7A GAS2L2 GTF2I BMPER KCNJ5 TRPV6 RASA2 KBTBD13 B9D2 RASGRP1 SHH COG5 KCNH2 IBA57 MYPN ARV1 DNAH5 INVS NKX2-5 TTC12 SLC3A1 KLF1 TRDN MKRN3 GLI2 WDR73 EBF3 SCYL2 CLTCL1 ORC1 TP53RK PTPN11 ARNT2 NDUFAF1 PPP3CA FANCC ITGB3 GABRB2 NLRP3 TBL2 IRF6 HBA1 DNAAF2 SCN4B MME DRC1 VAC14 ITGB2 IL1RN HADHA CDAN1 SUFU CCDC114 CD109 SARS2 MBTPS2 MAP3K20 PGAP3 MAMLD1 FOXE3 BSND F13B NLRP7 FXR1 CD96 HP_TRIPHALANGEAL_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIPHALANGEAL_THUMB TWIST1 FGFR3 FANCE SHH TBC1D24 DLX5 ATP6V1B2 TBX5 DACT1 FANCG FANCM ERCC4 MAD2L2 SLX4 GLI3 FANCC FANCL RFWD3 SUFU LMBR1 SALL1 SALL4 FANCI RPL15 FANCD2 BRIP1 MSX2 FANCA TP63 KIF7 FGFR2 SF3B4 RPL5 CHN1 MAFB XRCC2 RAD51C BRCA2 UBE2T FANCF RPL11 FGF10 RPS19 PALB2 BRCA1 FANCB RAD51 HP_DISTAL_SYMPHALANGISM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM_OF_HANDS NOG BMPR1B IHH TFAP2B GDF5 HP_ABNORMAL_FINGERTIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERTIP_MORPHOLOGY KMT2D DNAJB13 RSPH1 SFTPA2 SPEF2 CCDC40 SPAG1 FOXJ1 MCIDAS ZMYND10 PARN CHD1 KDM6A ARID1B RASGRP1 GAS2L2 TCF4 DNAH1 CTCF CCDC151 FOXP1 EP300 CCDC39 ARMC4 SFTPC ABCA3 DNAL1 TTC25 DNAAF2 DNAI2 TERC DRC1 PSMB8 MED12 NEK10 SFTPA1 CFAP221 EMC1 PTH1R PTEN RSPH3 LRRC6 DNAAF1 DNAAF5 CCNO RPGR RSPH9 STK36 BMPR1A DNAH9 FAM13A STN1 DSP INTU RTEL1 HYDIN MUC5B DNAAF6 TERT OFD1 LRBA RSPH4A DNAH5 ZMPSTE24 CCDC114 KANSL1 CCDC103 LRRC56 CD55 DNAAF4 NME8 GAS8 TTC12 CREBBP CCDC65 ATP11A CFAP298 DNAAF3 STK11 DPP9 TBL1XR1 CFAP300 RAB3GAP2 ATRX EZH2 DNAH11 DNAI1 HP_PROMINENT_FINGERTIP_PADS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_FINGERTIP_PADS CTCF FOXP1 KMT2D EP300 CREBBP TBL1XR1 KDM6A MED12 EMC1 ARID1B KANSL1 EZH2 HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES BGN LONP1 PIGV TRPV4 EXTL3 RMRP MBTPS1 IHH TRIP11 HOXA13 TONSL MATN3 UFSP2 HP_CLUBBING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING FANCE RSPH1 SFTPA2 SPAG1 FANCM ERCC4 MPLKIP HPGD FOXJ1 MCIDAS ENG KRT10 FANCL BMPR1A GAS2L2 RFWD3 DNAH1 CCDC151 SLCO2A1 DNAL1 FLNB BRIP1 TERC PIGL SFTPC CFAP221 PTEN GTF2H5 DNAAF1 RPGR RSPH9 STK36 ERCC3 DNAH9 FAM13A STN1 DSP MUC5B TERT OFD1 LRBA RSPH4A DNAH5 SMARCA2 RAD51C BRCA2 SMARCAD1 NME8 GAS8 TTC12 GJB6 ACVRL1 FANCF CCDC65 CFAP298 ERCC2 STK11 CFAP300 BRCA1 GTF2E2 ATRX RNF113A DNAI1 DNAJB13 SPEF2 RHBDF2 CCDC40 FANCG TARS1 ZMYND10 MAD2L2 SLX4 PARN FANCC RASGRP1 SCNN1A CCDC39 ARMC4 ABCA3 FANCI TTC25 SFTPB DNAAF2 FANCD2 MARS1 DNAI2 SCNN1G IL6ST DRC1 PSMB8 FANCA NEK10 SFTPA1 PTH1R RSPH3 LRRC6 UBE2A DNAAF5 CCNO CFTR INTU RTEL1 HYDIN XRCC2 CDC45 DNAAF6 CCDC114 CCDC103 ABCA12 LRRC56 CD55 DNAAF4 UBE2T SMAD4 TCF4 ATP11A SCNN1B DNAAF3 DPP9 PALB2 FANCB DNAH11 RAD51 HP_AUTOAMPUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION TGM1 ATL1 RETREG1 NGF NTRK1 WNK1 CCT5 KIF1A KRT1 SPTLC2 GJB2 MPV17 RAB7A SCN9A HP_ABNORMALITY_OF_THE_THENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE SALL4 FGFR3 FGFR2 TBX5 HOXA13 FGF10 HP_BROAD_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METACARPALS BGN MMP14 FBN1 NPR2 FGFR1 EXTL3 IHH PDE4D DDR2 ADAMTS10 MMP2 BMPR1B DNMT3A GNAS SLC26A2 GDF5 HP_ABNORMAL_FINGERNAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY PLEC SLC35D1 LIMK1 PPP1CB EDARADD MPLKIP SMARCC2 IL17F EDAR IL17RC WDR35 ARHGAP31 INPPL1 NOP10 AFF4 ARID1B SMARCD1 ELN RPS6KA3 CTSK SOST SCN9A TFAP2A SLCO2A1 ATP6V1B2 DYNC2LI1 GTF2H5 WRAP53 STAT3 FZD2 KCNH1 IFT122 GNA11 SHOC2 COL11A2 SOX11 PKP1 EVC TRAF6 ROR2 PEX6 TBX3 GJA1 GPR101 GTF2E2 RNF113A MACROH2A1 SHOX NXN TP63 SRCAP KRT16 DOCK6 GJB2 CTSC KRAS CDKL5 AIP SMARCB1 BRAF PLAGL1 MECP2 MBTPS2 PIGN GABBR2 APC2 DLL4 IKBKG SLC39A4 PTDSS1 IL11RA MAP2K1 RBPJ HUWE1 BAZ1B RTEL1 EVC2 GJB6 SMARCA4 BMPR1B UBA1 NTNG1 HYMAI TINF2 LMX1B KCTD1 TRAF3IP2 GTF2IRD1 DPF2 LBR NOTCH2 KDF1 RFC2 CSTB MSX1 LIG4 COL17A1 GTF2I WDR19 BMPER IFT52 HRAS MAP2K2 GDF5 KCNN3 DVL1 STXBP1 KRT9 CLIP2 NPM1 ZBTB20 AIRE RETREG1 EZH2 ERCC3 WNK1 IFT43 WNT10A KRT1 NOTCH1 PLCD1 GLI1 DVL3 NECTIN1 NSUN2 EBP PITX1 ERCC2 COL7A1 TBC1D24 TERC NSD1 CASR WASHC5 COL11A1 KRT17 CCDC22 TERT SOX4 TARS1 WNT5A TRPV3 KIF1A PARN EOGT TBL2 ARID1A PEPD SUZ12 SMARCE1 IL17RA SF3B1 EFNB1 TET2 ITGB4 PERP NHP2 ARID2 RUNX2 KRT74 HPGD LRP4 USB1 KRT6B CLEC7A CTC1 SETD2 KRT14 KRT6A DKC1 EED PEX1 HP_2_3_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_FINGER_SYNDACTYLY LRP4 FGFR3 WDPCP SOST FGFR2 PITX1 GPC4 GPC3 FGF10 HP_SLENDER_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_FINGER EFEMP2 SMS NALCN PRDM5 B4GALT7 COL3A1 FBN2 FBN1 CHST14 FSHR FGFR2 SMAD3 MAPK8IP3 FGFR3 MFAP5 COL6A2 TGFB3 PPP1R15B TGFB2 UBE3B UPF3B SIN3A UNC80 HERC1 PIEZO2 LOX ELN CRKL COMT POR AMER1 DSE ACTG2 CHRNG SH2B1 JMJD1C SPIDR PLOD1 CBS POLR3H EFTUD2 MED12 FBLN5 HYOU1 NR5A1 SLC9A6 CNTN1 KANSL1 HIRA BCR SCARF2 AEBP1 RREB1 TGFBR2 NELFA COL5A1 LAGE3 COL12A1 TGFBR1 COL2A1 TBX1 DLG4 OTUD6B TRMT10A PACS1 NSD2 BMP15 NKAP ACTA2 ZNF469 COL6A1 COL6A3 SMAD4 SLC2A10 CTSC COL1A1 PTCH2 SMARCE1 PRKG1 NUP107 VPS13B LETM1 PQBP1 SUFU PEPD SKI MIR140 PYCR2 ARVCF BNC1 ATRX C1R LFNG MAPK1 MYLK SATB2 STUB1 COL5A2 FLNA ABL1 ASXL3 USP9X PSMC3IP SEC24C COL11A1 CYP26B1 BPTF ZDHHC9 MAT2A NPR2 PTCH1 BMP1 MRPS22 GP1BB SON FOXE3 UFD1 WDR73 MYH11 MTM1 OSGEP HP_WRIST_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRIST_FLEXION_CONTRACTURE MMP2 FLNA CAPN3 HSPG2 MYH3 ADAMTSL2 ANO5 ESCO2 TBX15 ERLIN2 PRG4 TUBB3 HP_CAPITATE_HAMATE_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPITATE_HAMATE_FUSION FGFR3 EVC FLNB FLNA ATP7A DYNC2LI1 EVC2 GLI1 HP_LETHARGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHARGY TBK1 NDUFS2 TWNK MMUT NDUFAF5 BCKDHB EIF2B3 HLCS CPT2 EIF2B4 NAGS MMAA CPT1A SLC25A13 ACADS LMBRD1 HNF1A SLC22A5 MT-ND2 CPS1 MCCC1 GABRB2 SLC2A1 SLC25A22 NDUFV1 MMAB MEN1 ATP13A2 OTC SLC39A4 SLC25A19 MT-ND3 HJV PCCB HADHA ACADSB RRM2B BOLA3 SLC4A1 SLC1A2 DBT NDUFA6 LYRM7 MMADHC SLC25A15 NDUFS6 HAMP CYP11B2 DPYD MTRR HADH IVD SLC25A20 NDUFS3 UCP2 BTD HNF4A NDUFV2 ALDOB CDH23 NDUFS4 NAXD SLC5A5 ABAT NDUFA1 ACADM NDUFA11 RYR1 ABCD4 CYP24A1 NDUFB11 TCN2 USP18 NDUFS1 GCSH MRPS16 TH MT-TT DLD MT-CYB FBP1 TLR3 HMGCL NDUFAF1 PCCA GCH1 GYS2 ASPA TIMMDC1 NDUFAF8 NDUFB10 KCNJ11 AVP NDUFAF2 ASL ACADVL HMBS PAX8 PRDX1 ACADL EIF2B1 ABCC8 KRT18 MMACHC CA5A NDUFB3 ATP5F1D POLG GALT NDUFB9 FOXRED1 GLDC NBAS NAA10 POLG2 SLC7A7 MT-ND1 KRT8 EIF2B5 NDUFAF4 NDE1 GK BCKDHA DPYS EIF2B2 PDHA1 SIK1 ASS1 BNC2 HADHB AMT NDUFS7 MCCC2 SLC19A2 SLC25A4 NFU1 RMND1 NDUFS8 NDUFAF3 USP8 TMEM126B NUBPL HP_INTELLECTUAL_DISABILITY_MILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MILD ABCC9 SMS DNAJC3 NKX2-1 CAMTA1 HEPACAM FMR1 MARS2 RTN4IP1 MGP CDK6 LMAN2L NAGA DHTKD1 NARS2 NTN1 CRADD NTRK1 POLR3A KIF11 ARID1B LINS1 GMPPB VPS13D QRICH1 SLC2A1 SETBP1 AMER1 PTEN NGF SLC29A3 TTC37 ARX B4GALNT1 FTSJ1 NRAS MSTO1 RAB3GAP2 DNAL4 PIEZO2 NFE2L2 NSDHL EYA1 FLNA BPTF RREB1 ZFR SLC45A1 SPEG CPLX1 NUP62 HMGA2 EP300 CA8 HDAC6 CRBN FAT4 RSPRY1 FIBP MAN2B1 TAF13 HPRT1 ZMYND11 AGL GLI3 PNPLA6 ZC3H14 CLIP1 TFAP2A GPSM2 CEP57 BLM EDC3 DONSON YY1 SELENOI ZC4H2 DCPS SFXN4 ADAR NF1 POLR3B ANK3 RAD51 AFG3L2 H19 SARDH SHH PIGC IGF1 BCOR SOX11 ARVCF FBXO31 FLCN DAG1 FGFR2 MED25 ACP5 PSMB8 COG1 SARS1 DMD PNPLA2 MASP1 MTHFD1 BIN1 PCNA BRF1 MBOAT7 PTPN11 TRAPPC9 BRWD3 GTPBP3 WDR48 CC2D1A HUWE1 GBA2 ANO10 PIK3CA TBC1D24 RYR1 MED23 ATL1 LEMD3 DCC EXOSC2 C12orf4 DCAF17 ACTB GP1BB SRPX2 ACAT1 NONO EZR HPD UFD1 SBDS GPAA1 PYCR1 AASS NSUN2 JAG1 TNIK RARS1 PGAP2 PSMD12 GNE C12orf65 ADAMTS10 PRRT2 CLCN4 RAF1 WDFY3 GRIK2 SRP54 FOXP1 EXT2 C12orf57 POU3F4 MT-TN FMN2 POMGNT1 APC ERCC4 PGAP1 THOC2 POMT1 SIN3A SPTBN2 MSMO1 POGZ COMT COG5 POMK PEX11B GORAB LTBP2 SKIV2L JMJD1C MECP2 NFIX TAC3 BMPR1A GRIA3 IGF2 LRP5 FRRS1L MT-TL2 RPS23 DNMT3A ACVR1 KLF13 SCYL1 PRSS12 AKT1 KDM5B DMPK KIF1C HIRA SLC35A3 MT-TL1 SLC25A24 SRY MLC1 KCNJ8 DARS1 MAN1B1 FBN1 RSRC1 TBX1 ST3GAL3 IQSEC1 PHF8 TH MAP3K7 DPYD GNPTG POMT2 B3GALNT2 NDST1 CHRNA7 CTDP1 ABCA2 HMGCL TFAP2B FGD1 ACOX2 ALX4 HNMT GATA4 SPART TRIO SOX3 HINT1 METTL23 WASHC4 MT-ATP6 RNF135 RNU4ATAC KCNC3 TSPAN7 ERMARD BRAF ATP2A2 LMNB1 PCDH19 TTN TUSC3 POLA1 AIMP1 FGF14 SUFU DNAJC21 KCNQ1OT1 MARS1 DNAJC12 SEC24C BSCL2 PDSS1 TECR TKT STAC3 RAI1 PEX10 PRMT7 GLB1 DLAT AP3B1 FKRP HP_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTICITY MICOS13 VPS11 SLC1A4 HEPACAM GLB1 SLC6A8 SYNJ1 LMAN2L NKX6-2 ERLIN1 SLC13A5 B4GAT1 REEP2 XPA RAB3GAP1 RNASEH2C CLP1 MAG OSTM1 NEFL CC2D2A PON1 ECHS1 SACS CLTC COASY SLC2A1 NDUFS7 ATRX NDUFV2 ADSL BOLA3 WASHC5 UCHL1 MTFMT SLC1A2 MED25 TRAK1 CHMP1A SCN8A CACNA1G RNASEH2A RAB3GAP2 MCCC2 HLA-DRB1 WWOX DHPS RAD50 ATP2B3 AUH CNPY3 ATP7A IREB2 KIF1A NUP62 MTHFS SIGMAR1 PAFAH1B1 WDR45 GJA1 DNMT1 SDHB ERCC3 HLA-DQB1 GAN DYNC1I2 NT5C2 NEK1 PNPLA6 RPIA RNF113A SETBP1 ZC3H14 ANK3 SLC35A2 L2HGDH PIGQ GATAD2B BCOR REEP1 MT-TW MECP2 OCLN CACNA1B C9orf72 POMGNT1 UNC13A ALDH18A1 TRAPPC12 KIF5A TIMM50 PAX3 TREX1 ARX AGA SEPSECS SERAC1 DDX3X CASK NALCN ERCC2 VPS13C EXOSC9 COL4A2 BCS1L DSTYK ARSA PLP1 LAMB1 SLC39A14 FA2H PEX7 MTPAP NDUFV1 DDHD2 TRAPPC9 FAR1 COPB2 RAB18 PHGDH WDR45B ERBB4 TAF1 TBC1D20 ROGDI MED23 OPA1 NTNG1 TOE1 ABHD12 USP8 SDHA ATXN8OS NEXMIF ERCC4 ATAD3A EEF1A2 KCNB1 ACAT1 GTF2IRD1 MT-ND5 CLPB SDHD LIAS ZFYVE26 NPC1 CTC1 AP4B1 CCNF SLC2A3 HACE1 RARS1 PSAP PLA2G6 TTC19 ALS2 NTRK2 TUBB4A SPG11 KIF2A SELENOI MACF1 GRIN2B PRDM8 EXTL3 SPG7 TREM2 CYP2U1 GALC CLIP2 KLC2 PIGP ZFYVE27 SIL1 C19orf12 SOD1 TSEN54 FRRS1L GJC2 TRMT5 UBA5 ATP13A2 TAF2 L1CAM PDHX KDM5B ERLIN2 ADAR MRPS34 VCP PEX19 IFIH1 TARDBP PGAP1 MLC1 OTUD6B TPK1 GNAO1 MAN1B1 OPA3 UGP2 PARS2 IQSEC1 EZH2 DNAJC6 IRF2BPL VPS53 MAPT LMNB1 NAGA HMGCL SIX6 DDB2 SPART NDUFA10 MT-TL1 GLRB TANGO2 KCNA1 ERCC6 MT-ND3 EIF2B1 KIDINS220 FUS CCT5 ELOVL4 SNCA SOX10 MT-ND6 HUWE1 FGF12 NDUFAF3 NIPA1 CCDC88C NDUFA4 FTL CRBN GDAP2 EIF2S3 ABCC8 CYB5R3 SCN1B GJB1 NUS1 BCL11B AP5Z1 KCNA2 ATP6AP2 MT-TF DNM1L AMACR NR2F1 RTN2 MTO1 HSPD1 TRIT1 ASAH1 DCTN1 DNM1 SOX4 ASNS EIF2B3 RTTN SCN3A DAO STXBP1 NDUFB8 AIFM1 GBA2 POLG MAPK8IP3 BEAN1 POLA1 UBTF ERCC5 RPS6KA3 NDUFA13 GRIN1 ZNF335 ISCA1 GCDH SPATA5 TUBB3 KCNT1 MRPS22 HNRNPA1 SLC18A2 B4GALNT1 IBA57 SLC45A1 AP4M1 MT-ND1 LAGE3 PODXL GLE1 NACC1 DCX SCN2A SPAST ABCD1 PEX3 TRMT10A PDCD1 LRRK2 RNASEH2B GBA MAN2B1 IKBKG PPT1 POLR3B MARS2 AFG3L2 SLC30A10 MED17 PEX6 FXN CNTNAP1 TPI1 KCNQ2 SPR SDHAF1 DDHD1 ANXA11 COX10 FBXO7 MFN2 ADAT3 VPS37A ATP6V0A2 WDR48 COG2 HTRA2 BAZ1B CYFIP2 GRM1 EIF2B5 NDUFS4 CAPN1 CYP7B1 ATXN3 PCYT2 C12orf4 EARS2 COA8 EPRS1 TYROBP CPT1C ENTPD1 GLYCTK BSCL2 TNIK TACO1 PINK1 VAMP1 PQBP1 ATAD1 TBK1 VWA3B MECR FMN2 APC MT-TP ACP2 WDR26 RNU4ATAC CACNA1E NDUFA6 PTS ATM SLC33A1 SURF1 AP4S1 TBCE RETREG1 SLC52A2 FIG4 RLIM KIF1C KANK1 TSEN15 SETX CHCHD10 PDHA1 SLC25A15 CNTNAP2 RPGRIP1L JAM3 RANBP2 HIKESHI KCNA4 PNKP MT-ATP6 CHP1 B3GALNT2 NDST1 PRPS1 KIF11 NDUFS2 MT-ND4 KDM5C PEX10 FLRT1 DHCR24 DLD MT-TK TBCD COLGALT1 TRAPPC4 ATXN7 SLC25A22 WDR73 ATP6V1E1 MARS1 SUMF1 POLR1C MT-TV GABRA5 C12orf65 ARL6IP1 ATXN1 TMX2 CACNA1D ANKLE2 GM2A TDP1 MCOLN1 EXOSC8 RNASET2 AARS1 NDE1 GBE1 PLAA CLIC2 PHACTR1 SLC16A2 OSGEP SNX14 PFN1 NDUFS1 TMEM231 LIMK1 LIPT1 MPLKIP SUCLA2 EIF2B4 GPHN NARS2 MYO5A NOTCH3 SPTAN1 NUBPL ELN NDUFS8 CNKSR2 NADK2 GSS AARS2 PNPLA8 ADAM22 MED13L PNP PRPH PPARGC1A KMT2B BICD2 ADD3 ELP2 ALG11 UFM1 ZNF592 XPC PPP3CA PET100 SLC17A5 AP4E1 NDUFAF2 TELO2 EML1 HSD17B10 PRNP HPRT1 RARS2 DENND5A GABRA2 SCO2 CLIP1 TMTC3 OPTN ZC4H2 TSEN2 CAMK2A LIPT2 UFC1 UBAP1 SOX2 NTNG2 UNC80 PEX1 PIGN FBXO31 GFM2 CKAP2L PRUNE1 RERE MBOAT7 COL4A1 FOXRED1 TBP UBQLN2 KY SQSTM1 SYNE1 STAMBP GLRX5 DHDDS FARS2 TFG STUB1 TECPR2 PEX16 PEX11B SLC19A3 TBC1D23 CACNA1A DARS2 PEX5 GPT2 RFC2 DMXL2 INPP5K SLC6A5 GABRG2 MCCC1 TUBA1A GTPBP2 PRRT2 PEX12 MOCS2 IDUA GABRB2 FOXP1 STN1 ARNT2 NDUFAF5 NDUFA12 FRMPD4 ATXN2 TXN2 NECAP1 SZT2 ISCA2 LYRM7 FBLN1 FUCA1 NEFH TCF20 GRIA3 WDR62 PRSS12 GUF1 SCYL1 AUTS2 EPM2A YWHAG NAA10 RAB11B RSRC1 ARSI ST3GAL3 TIMM8A TARS1 CARS2 COX15 TCTN2 ASPA CHMP2B SMPD1 MFF CFAP410 ARG1 POLR3A PYCR2 CDKL5 TUSC3 KCNJ6 PPP1R15B AIMP1 NDUFA2 AP1S2 AMPD2 ALDH3A2 RAB27A TMEM67 CLCN4 EDC3 ATL1 NEUROD2 IARS1 NSUN2 EPHA4 SNORD118 HCN1 NDUFA9 SLC25A12 SON TPRKB SYNGAP1 MFSD2A NDUFAF6 CTSD ATP6V1A FGFR1 CRADD CTNNA2 ACTL6B CSF1R PON2 LINS1 VPS13D GTF2H5 RFT1 PANK2 PEX26 HTT HSD17B4 TUBG1 TUFM WARS2 ZFR EDNRB SAMHD1 ITM2B CNOT1 TP53RK MATR3 PON3 GTF2E2 MT-TI AGTPBP1 LINGO1 CTNNB1 NPC2 DCPS GPAA1 HTRA1 GLT8D1 RUSC2 KIF5C CYP27A1 PCLO PIGC CYB5A PEX13 UGDH GABBR2 PIGA ACP5 SARS1 SPG21 PMPCB GAD1 PARK7 EXOSC3 CC2D1A TAF15 TRIM8 EIF2B2 MOCS1 REPS1 PEX2 AP3B2 EZR PSAT1 KATNB1 PUM1 NDUFAF4 GRIN2D TTR GRIK2 GTF2I LMX1B DEGS1 FLNA NUP214 THOC2 OPHN1 PMPCA GFAP SPTBN2 PSEN1 PCDH12 NHLRC1 ARV1 ACER3 FOXG1 GRIA4 ATXN10 DARS1 CRLF1 PLCB1 SCYL2 NSD1 PRKN WDR4 GOT2 KRAS NDUFS3 GFM1 HNMT ANG DNAJC19 VAPB SIK1 METTL23 WASHC4 TBL2 PEX14 SUZ12 TUBGCP2 GLRA1 MT-ND2 DYNC1H1 TECR ARF1 MRE11 EED CIT FDX2 HP_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPLEGIA BSCL2 TFG NDUFS1 TACO1 GPT2 AP5Z1 NDUFAF6 LIPT1 ALS2 SELENOI AIFM1 GBA2 VAMP1 KLC2 GJC2 NDUFA12 MAG PNPLA6 NDUFS8 C19orf12 KIF1A NDUFV2 L1CAM PGAP1 HSPD1 NDUFA13 CYP2U1 AMPD2 ECHS1 NDUFS7 ATRX WASHC5 AP4M1 SLC33A1 SURF1 ZFYVE27 AP4S1 DDHD2 SLC25A15 ZFYVE26 ATP13A2 B4GALNT1 STXBP1 RAB3GAP2 REEP2 IBA57 SPG7 PDHX AP4B1 SPG11 PET100 ZFR AP4E1 ALDH18A1 NDUFAF2 SLC2A1 SETX SPAST ABCD1 PDHA1 ARSI NT5C2 SPG21 PAX3 KDM5C RNASEH2B MT-ATP6 UCHL1 COX15 REEP1 GBE1 NDUFS3 NDUFS2 NDUFS4 MAN2B1 ERLIN2 ARL6IP1 SPART UBAP1 NDUFAF5 FLRT1 NDUFA10 KIF5A KIDINS220 CCT5 VCP FA2H MTFMT CYP7B1 DSTYK GAN DDHD1 LAMB1 RTN2 NDUFA2 NDUFV1 MARS1 VPS37A NIPA1 WDR45B WDR48 FOXRED1 NDUFA4 KY C12orf65 CAPN1 PEX3 TOE1 PLP1 ATL1 USP8 CACNA1D SDHA NDUFA9 FARS2 DNM1L TECPR2 CPT1C ENTPD1 SLC19A3 SLC16A2 OPA1 HACE1 HP_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMA STAR PRF1 MMUT NNT BCKDHB TICAM1 PDX1 ETFB HLCS ABCC8 RANBP2 NAGS MMAA CPT1A SLC25A13 HNF1A SLC22A5 POLG CPS1 MCCC1 ATP7B NOTCH3 GCDH APP CACNA1A MC2R MMAB MEN1 KCNJ11 CPT2 CTNNB1 OTC PCCB HADHA GCK DBT STAT3 SLC25A15 ZFP57 INSR IVD BRAF SLC25A20 UCP2 AUH BTD HNF4A ALDOB TRDN CFH CFHR1 ATP1A2 ACADM SLC7A7 SLC19A3 UNC93B1 MRAP TBK1 FBP1 ETFDH HMGCL PCCA HADH NAXE ASL PLAGL1 KYNU INS NFKB2 AKT2 NDUFS4 TLR3 SLC16A1 TRAF3 GK BCKDHA EIF2AK3 ETFA HYMAI TXNRD2 ASS1 HADHB GLUD1 MCCC2 ACAT1 CFHR3 HP_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSARTHRIA PDGFRB MICOS13 GLE1 NKX2-1 HEPACAM NDUFS1 CAMTA1 LIMK1 LIPT1 CHD2 MARS2 MPLKIP EIF2B4 NKX6-2 FMR1 PSAP JAK2 ERLIN1 NARS2 ATXN8OS SURF1 RUBCN DMXL2 EPCAM SPTBN2 NUS1 RRAS2 NUBPL TPP1 ATP1A3 ELN NDUFS8 GSS AARS2 PNPLA8 SACS TBP SYT14 ECHS1 PDYN COASY TDP1 NDUFS7 RRM2B TK2 PRPH THPO SLC2A1 FGF8 KMT2B SCN8A ATM MAPT TTBK2 C19orf12 CACNB4 SNCA CP RAB3GAP2 PCNA KCTD17 PDGFB CHRNA1 MLH3 ZNF592 GFPT1 VAPB ATP2B3 MSH2 PET100 NR4A2 SLC17A5 ERCC8 NDUFAF2 ANOS1 VPS13A TGM6 NUP62 ELOVL1 HSD17B10 GJA1 PRNP GCLC ERCC3 COQ2 TTPA NDUFAF6 ATXN3 DYNC1I2 RPIA RNF113A CACNA1G SPG11 XRCC4 ELOVL5 POLG REEP1 MRAS STUB1 ATCAY GJC2 PABPN1 KCNC3 ALDH18A1 DNAJB6 BRAF MAG FTL GFM2 LRP12 BCS1L SCARB2 RERE ARSA SQSTM1 PLP1 MME WFS1 ATXN1 FA2H APTX MTPAP NDUFV1 DDHD2 GBA RFC1 AR COA7 FLRT3 SLC9A1 CHD3 FOXRED1 KISS1R KCTD7 CISD2 TBC1D24 CCDC141 MPL PUS3 FBXL3 SLC18A2 ABHD12 SYNE1 TRAPPC11 JAM2 DCAF17 SDHA GLRX5 ERCC4 FAM126A COLQ FARS2 PFN1 CLN3 TECPR2 UBQLN2 GTF2IRD1 CHCHD10 SOS2 TWNK ZFYVE26 NPC1 CTC1 AP4B1 SLC19A3 TBC1D23 C9orf72 HACE1 VLDLR MRE11 ALS2 TARDBP DARS2 RARS1 GPT2 RFC2 PLA2G6 INPP5K TTC19 SIL1 TUBB4A CLN5 XPR1 SELENOI MYORG SNCAIP PRKCG DCC PEX2 ATP7B SOX10 NDUFAF5 NDUFA12 PLD3 PRDM8 RNASEH1 ADA2 SPG7 ATXN2 CACNA2D2 CHMP2B CLIP2 DRD3 HESX1 KLC2 XK LYRM7 FBLN1 CHRNE PIK3R5 ARX ATP13A2 NOP56 PCGF2 NEK1 ERLIN2 MED13L DMPK ANO10 SOD1 ENTPD1 SMS EPM2A CSTB MSH6 GRHL3 PMS1 ERCC2 ATP1A2 OPA3 ITPR1 FAT2 SOS1 TIMM8A RAB39B EZH2 DNAJC6 IRF2BPL GSN SLC35A1 TOR1A EEF2 TARS1 PEX10 LMNB1 ZBTB11 COX15 PROKR2 PDE8B HMGCL ATXN7 PRKRA SPART MT-ATP6 FGF17 NDUFA10 RAF1 TANGO2 RFXANK EIF2B1 FUS TTN MTFMT RPS20 HPCA SRPX2 PPP1R15B CIITA CCDC88C FGF14 NDUFA2 NOTCH3 ALDH3A2 SUFU KCNA1 RIT1 HPRT1 ADCY5 KCND3 NDUFA4 GDAP2 ATL1 NSUN2 VCP SNORD118 GJB1 NDUFA9 SPRY4 AMACR SLC25A4 CWF19L1 AFG3L2 ABCB7 DCTN1 NEFH EIF2B3 PNKP GRM1 TREX1 RTTN ATXN10 RANBP2 ADH1C GBA2 FGFR1 PRICKLE1 PMS2 A2ML1 POLR3A BEAN1 CSF1R TOP3A NDUFA13 PDE10A VPS13D WIPI2 GTF2H5 TUBB3 MYOT WDR11 B4GALNT1 MATR3 PANK2 GNS HSD17B4 GALC HS6ST1 ATP8A2 AUH AP4M1 SPEG SERPINI1 CPLX1 JPH3 IL17RD THAP1 XRCC1 CA8 DCX VAMP1 TRIM37 GTF2E2 ADPRS RFXAP NPC2 UBA5 GPAA1 ADAR NFASC MAN2B1 KRAS POLR3B RNF216 HTRA1 CAPN1 TGFBR2 SLC30A10 PEX6 CYP27A1 FXN PLEKHG4 AP2M1 CYP7B1 SPR GAN NRAS ATN1 COX10 BIN1 FBXO7 SEMA4A MAP2K1 POLG2 TMEM240 BAZ1B NOTCH2NLC EIF2B5 RYR1 CBL EIF2B2 KIF1C SYNJ1 GOSR2 REPS1 FOXP2 SCO2 UBTF NONO PIK3CA FAN1 PUM1 SIGMAR1 ERCC5 TACO1 MMUT CACNA1A TTR UBB SLC13A3 GTF2I BMPR1A DEGS1 SLC6A1 VWA3B TBK1 MAP2K2 MECR NDUFV2 RASA2 GRIN2A TACR3 UROC1 PMPCA PIEZO2 PSEN1 PNKD AP4S1 TMEM106B HOXB1 TBCE SLC52A2 NHLRC1 AAAS HEXB CTSF PGM3 DUSP6 PDHA1 EBF3 SPG21 MLH1 PROK2 SAMD9L LZTR1 PACS1 PTPN11 KCNA4 NSMF ABCA2 SPAST PRPS1 SLC1A3 NDUFS3 NDUFS2 AP4E1 NDUFS4 ELOVL4 SLC20A2 TBL2 FLRT1 OPTN PPP2R2B SETX MT-TE PEX16 GALT IFRD1 WDR73 RNU12 SEMA3A DAB1 WWOX GRID2 CHD7 RRAS C12orf65 STAC3 RAI1 RFX5 SNAP25 FEZF1 SLC16A2 GLUD2 WDR81 HP_EXCESSIVE_DAYTIME_SOMNOLENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_DAYTIME_SOMNOLENCE MOG TBK1 DNMT1 BAP1 DHCR7 SPIB PTS ZNF365 TICAM1 MYOD1 TERT TNFSF4 SMO PRPS1 POMT1 HLA-DRB1 HMGCL SLC22A5 IL12RB1 FKRP HCRT CTNNB1 CLCNKB LARGE1 TBC1D24 MMEL1 P2RY11 DOK7 DMPK IRF5 NAA10 POU2AF1 SLC18A3 MTRR PDGFB MUSK PIK3CA TLR3 HLA-DQB1 BRAF FKTN TRAF3 SMARCE1 DPYS TNPO3 TRAF7 POMT2 SMARCB1 FBP1 TWNK SUFU GJB1 TNFSF15 ACAT1 AKT1 COA8 SLC12A3 NF2 CTSH IL12A RAPSN UNC93B1 NUP88 HP_SPASTIC_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DIPLEGIA CTNNB1 BCOR NTRK2 ADD3 TAF1 PSAP ELP2 FTL GALC SIX6 NDE1 HSD17B4 RAB3GAP1 PQBP1 PNP FLNA RAB3GAP2 SOX2 TANGO2 GLRX5 NAA10 ACP5 HUWE1 ATRX GCDH AP1S2 TUBB3 GAD1 ALDH3A2 HP_HYPOREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA SNX14 DYNC1H1 MPLKIP POMK SUCLA2 NEB ELP1 FMR1 PSAP PMP22 GNB4 LPIN1 FBN1 FHL1 NARS2 SLC13A5 RUBCN XPA OTOG NEFL COG7 LARGE1 MAG LRSAM1 CNKSR2 SLC1A2 TDP1 RRM2B EGR2 BICD2 LRP4 SCN8A MPZ C19orf12 SYNJ1 TERT TUBA8 WWOX TRPV4 TPM2 TRAK1 HSPB3 DMD MEGF10 SLC5A7 VPS13A TWNK WARS1 COLQ MPV17 MME SNIP1 GABRA2 HK1 PNPLA6 RNF113A RAI1 ATP6AP2 POLG GNAS COL13A1 MT-TW CACNA1B SELENON DNAJC6 KIF1A PIGN ERCC2 EXOSC9 ARSA SQSTM1 PLP1 TRAPPC11 ATXN1 IGHMBP2 APTX MTPAP RYR1 IQSEC2 SZT2 GEMIN4 AR DOCK3 COA7 ATL3 ARHGEF2 GALC PODXL ABHD12 TSPYL1 LDB3 ZSWIM6 DGUOK ADSS1 SLC25A4 EEF1A2 PNKP LMNA KCNB1 HNRNPDL MYH14 PEX1 ACAT1 PMM2 MT-ND5 CHCHD10 TBC1D23 C9orf72 CACNA1A HSPB1 NAGLU TARDBP DARS2 MYO9A MED25 SEPTIN9 DNMT1 INPP5K SIL1 AGRN GABRG2 ACTA1 SNAP25 CRYAB PEX2 AIFM1 CLTC EXTL3 DEAF1 SLC25A19 ATXN2 VAPB CHMP2B GRIA3 NECAP1 PEX5 KLC2 CRPPA ST3GAL5 PIK3R5 RFC1 ERCC3 AARS1 INF2 FKTN TRMT5 MCM3AP STIM1 WNK1 UBA5 SLC25A46 MGME1 SCYL1 TBCK RETREG1 RXYLT1 YWHAG MFN2 NDRG1 SLC25A1 PARS2 ACD EMC1 TBC1D24 SLC35A1 KCNA2 TARS1 PEX10 FLNC HMGCL ATP7A STX16 SMPD1 HSPB8 MT-TL1 ERCC6 MT-ND3 SLC18A3 TK2 SMN1 SBF2 B4GAT1 SOX10 MT-ND6 CFL2 SIGMAR1 FGF12 DHDDS KCNJ18 KCND3 NGLY1 FBLN5 HCN1 SYT2 HADHB LAMB2 FBXO38 SYNGAP1 TRIM32 ACO2 DNM1 SHANK3 KLHL41 KARS1 VAMP1 SCN3A ACTL6B SMN2 MT-TE BEAN1 TGFB3 HADHA CLCNKA ATP6V1A QRICH1 ABCA1 GTF2H5 SYNE1 FUS MYOT LMOD3 PHYH B4GALNT1 POMGNT2 MSTO1 HSPG2 ATP1A1 HSD17B4 DCAF8 MT-ND1 NTRK2 PEX6 PIGG FKRP DNM2 RAB7A PNPT1 GTF2E2 GCSH MDH2 COASY FIG4 NRXN1 NFASC PTRH2 MT-ATP6 GRIN2A PEX12 TRMU CNTNAP1 POMGNT1 TPI1 GAN PRKCG ATN1 GLDC COX6A1 POLG2 TMEM240 CYFIP2 GARS1 NDUFS4 GJB1 POMT2 CLCNKB SCN9A AP3B2 POMT1 RMND1 STXBP1 NUS1 RNF170 REEP1 VPS33A KIAA0586 GRIN2D TTR FGD4 FLI1 CACNA1S RTEL1 TBK1 KBTBD13 ALDH5A1 TPM3 PMPCA NDUFA1 COL4A1 MYH7 PTF1A NEFH STAC3 PDK3 DKC1 MYPN ARV1 KY IBA57 ATXN10 DYSF CNTNAP2 FLII GDAP1 PPP3CA NDUFA9 MT-ND4 GABRB2 LITAF KIF1B CHAT ELOVL4 DAG1 FLRT1 DES MT-TK PEX7 SETX MT-ND2 VCP IFRD1 LYST PRX MT-TV B3GALNT2 GABRA5 PARN PYROXD1 IARS2 AMT MRE11 BSND TINF2 PGM3 BAG3 GABRA3 WDR81 FDX2 HP_CHOREOATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREOATHETOSIS PANK2 MICOS13 NKX2-1 MMUT DMXL2 PRRT2 TUBB4A NUP62 GTPBP2 STXBP1 XPR1 SYT1 POLG SCN8A XPA SUOX GCDH SLC2A1 NDUFAF5 ATP1A3 NADK2 PNKD PTS NDUFA1 PIGP ATM MECP2 ST3GAL5 PNPT1 ELP2 GUF1 MRPS34 KCNQ3 IREB2 VPS13A SCN2A HSD17B10 PIK3R5 ATN1 GNAO1 ARX SLC25A22 IRF2BPL CASK PIGQ PNKP ADAR GCH1 NDUFA9 FBXL4 GJC2 SIK1 MT-ATP6 CACNA1B FTL KCNA1 ERCC6 PIGN ERCC2 CDKL5 FRRS1L SPR PLP1 APTX NDUFA13 HPRT1 KCNQ2 NEUROD2 TRIM8 PDHA1 DCAF17 SLC25A42 QDPR OPA3 DLAT CLPB SCN1B ATP1A2 GNAS SLC30A9 HSPD1 DDC AP1S2 SETX HP_MENTAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENTAL_DETERIORATION PDGFRB HEPACAM DNAJC13 GLB1 HTT CHD2 SYNJ1 CLN6 FMR1 PSAP TOMM40 GBA SLC13A5 MT-CO1 DAOA XPA TREM2 NOTCH3 PLAU ATP1A3 CNKSR2 AARS2 PINK1 SLC1A2 VPS13C TBP MAPT UCHL1 PSEN1 TYMP MT-TC SCN8A EPM2A C19orf12 SNCA CP CHMP2B WWOX MT-TK MT-TL1 MT-ND4 PDGFB TRAK1 APOL2 NR4A2 ERCC8 VPS13A LRRK2 HSD17B10 GIGYF2 WDR45 PRNP MT-TQ DNMT1 SDHB TTPA GABRA2 SCO2 NDUFS2 KMT2A PSEN2 SPG11 TLR3 TRPM7 GCH1 CACNA1B UBAP1 MT-CO3 GRN FTL TUBA4A HGSNAT ERCC2 ALDH18A1 SQSTM1 PLP1 CUX2 FA2H APTX ARSA ROGDI GALC KCTD7 WFS1 CISD2 APOE MFSD8 JAM2 HFE DCAF17 CLN3 QDPR NHLRC1 EEF1A2 KCNB1 UBQLN2 GNAS CHCHD10 MT-TH SDHD HTRA1 ZFYVE26 HNRNPA2B1 NPC1 CTC1 C9orf72 SLC2A3 CACNA1A TARDBP DARS2 RNF216 PLA2G6 SDHAF1 GABRG2 CLN5 XPR1 SGPL1 MYORG HNF1A SNCAIP PRKCG MT-TW ATP7B CLTC PRDM8 SUMF1 ADA2 IRF6 COMT ATXN2 HTR2A NECAP1 SZT2 AARS1 UBA5 ATP13A2 MT-TS2 DMPK UCP2 NOS3 RBM28 A2M YWHAG CSTB DNAJC5 ATN1 MT-ND5 PRKAR1A PARS2 JPH3 TIMM8A RAB39B IDUA MT-ND6 RRM2B PTS KCNA2 LMNB1 COL18A1 APP ATXN7 FBXO7 ERCC4 NDP PRDX1 ERCC6 MT-CO2 FGF12 NDUFAF3 DHDDS RAB27A GDAP2 PAH CTNS MECP2 MT-ATP6 TMEM106B SNORD118 EIF4G1 AP5Z1 NBN HCN1 DNM1L RTN4R ASAH1 SYNGAP1 CST3 MT-ND1 OPA1 DNM1 DRD3 CTSD HNRNPA1 TREX1 SCN3A ATXN10 NDUFB8 ATXN3 ADH1C GBA2 CHI3L1 ACTL6B POLG CSF1R UBTF MT-TF SURF1 ATP6V1A ATXN8OS FUS MATR3 PANK2 PPP2R2B KCNC1 PDE10A NRAS BSCL2 SCN1A MTHFR MPO HIBCH SERPINI1 CPLX1 NTRK2 PODXL ITM2B SPAST ABCD1 CLN8 COASY NPC2 MT-CYB NAGLU MT-TV PPT1 KCNJ11 RNASEH1 COL4A1 CYP27A1 TWNK ABCC8 PLEKHG4 AP2M1 MMACHC MBTPS2 SPG21 MFN2 SYN2 HEXA ATP6V0A2 PARK7 DGUOK HTRA2 NOTCH2NLC CYFIP2 TBC1D24 VPS35 AP3B2 APOL4 PNPLA6 STXBP1 VCP TYROBP NUS1 TBK1 GRIN2D TTR SDHA SORL1 SCARB2 SLC6A1 GM2A PRICKLE1 TK2 NDUFA6 PRKAR1B TINF2 ARV1 SMC1A ACTB HNF4A HEXB CTSF CERS1 TUBB4A CNTNAP2 PRKN TIMMDC1 DCTN1 ABCA7 PPP3CA SNCB GABRB2 CUBN HLA-DQB1 SLC20A2 CFAP43 MT-TE GABRB3 ATP6V1E1 PDE11A GABRA5 MAPK10 MCOLN1 GBE1 ATP1A2 GLUD2 DNAJC6 HP_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPARESIS ALAD TBK1 BAP1 IL12A TBC1D24 TREX1 TERT SMO FGFR1 TTR ARHGAP31 MT-CO2 MT-CO1 MT-TF MT-TW TGFBR3 SLC2A1 MEFV CACNA1A IL12A-AS1 TSC2 PNPLA8 IL10 TSC1 STAT4 MT-TC IL23R CYP26C1 ERAP1 WDR62 PIK3CA CCR1 MT-TS2 MT-TK MT-TL1 MT-ND1 MT-ND4 NOTCH1 KLRC4 SMARCB1 CFH COL3A1 CFHR1 ATP1A2 MT-CO3 MT-TQ MT-ND5 AKT1 MT-ND6 SCN1A HLA-B TLR3 ENG KRAS DOCK6 MT-CYB SLC1A3 MT-TV PRNP GUCY1A1 HLA-DQB1 EOGT SP110 C4A UBAC2 ATP1A3 DLL4 TUBB2B TPP2 COL4A1 RBPJ PDGFB ANGPTL6 GNAQ SMARCE1 MTOR TRAF7 SUFU DNM1L TLR4 RHOBTB2 ADA2 GBE1 THSD1 MT-TH NF2 FAS CFHR3 RASA1 OPA1 HP_MOTOR_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DELAY SNX14 GLE1 NKX2-1 SMARCAL1 HEPACAM DYNC1H1 SLC6A8 CFL2 POMK PDX1 SCN11A SUCLA2 LMAN2L NEB POMGNT2 KIF7 PCDH15 PMP22 PHKA2 FBN2 FBN1 RUBCN DMXL2 KCNJ11 NEFL DNM2 NUS1 COL1A2 CRAT PWAR1 ASAH1 CPLX1 MED13L SETBP1 EGR2 MRPS14 STAT3 TH MYRF KMT2B BICD2 PUS7 DPYD NRAS CHST3 HADH TRPV4 NFIX DHPS MT-ND4 CHRNA1 TPM2 LAMA2 ZNF592 GFPT1 PTCH1 ATP2B3 RYR1 AEBP1 NCAPG2 AK9 MEGF10 SLC5A7 PHKG2 SRD5A3 ATP1A3 TNNT1 KCNK4 WDR26 EP300 MT-TQ MORC2 SDHB ORC6 HNMT IGF2 AGK CYP27B1 DYNC1I2 NT5C2 KMT2A ZC3H14 CLIP1 TMTC3 ATP6AP2 GPSM2 SCN4A CHST14 WDR4 BCOR COL13A1 MYMK MT-TW MAN2B1 GJC2 NDUFA12 FKRP KCNC3 ALDH18A1 MT-CO3 CHRNE SARDH COL6A3 TIMM50 COX8A NTNG2 HGSNAT LARS1 MBD5 FBXO31 MBOAT7 MED25 COL2A1 CRPPA KDM1A NDN GCK SELENON DSE MTPAP TRAPPC9 FBXO11 DMD RAI1 DOCK3 ASPM TBR1 ARHGEF2 SLC9A1 MED13 CHD3 TAF1 KY ABCC8 MICU1 MED23 TENT5A GMPPB EXT2 FBXL3 MYO9A DHX30 SLC18A2 MTMR2 PTPRQ PLEC LRP5 ZSWIM6 BMP1 MMP13 FAM126A RPS6KA3 PNKP MAGEL2 ACAT1 TUBB2B MT-TH SDHD ALG14 LIAS SNORD115-1 SH3PXD2B FGFR3 DARS2 SMARCD1 TRIO SDHAF1 AGRN TUBB4A HELLS TUBA1A ACTA1 COX6B1 SELENOI TK2 SNAP25 PPP2R5D CLCN7 COX14 FOXP1 DPAGT1 DPF2 ZBTB24 FRMPD4 KIF14 EXTL3 CTBP1 SNRPN KLC2 FBLN1 ZFP57 COA3 TCF20 GRIA3 FRRS1L FKTN MCM3AP SOX5 VDR PRSS12 MYO7A GHR SCYL1 TSHR KDM5B ERLIN2 CDKL5 CHKB TRMT10A STXBP1 NPHP1 SYT1 HARS1 MT-CO1 PGAP1 MFN2 MLC1 CLP1 NKX6-2 NAA10 RAC1 OTUD6B TMEM94 MN1 TRRAP MAN1B1 RAB11B MT-ND5 COL6A1 SLC25A1 RSRC1 ITPR1 LRP4 ST3GAL3 IQSEC1 ALG2 ZEB2 MT-ND6 B3GAT3 ASPA MTMR14 ATXN7 SYNGAP1 FKBP14 CYP2U1 PRKRA SPART PLAGL1 SP7 LTBP4 CIB2 MPZ MYH3 SETD5 SLC18A3 CHRND NEK1 PCDH19 TTN PTCH2 HECW2 TUSC3 PWRN1 MED12 PBX1 KIDINS220 PPP2R1A HUWE1 AIMP1 AMPD2 BRAT1 MT-CO2 COX20 PYGL HPRT1 AHDC1 ADCY5 EDC3 CRBN ATL1 GLS TPM3 IGF1R PCBD1 GJB1 BCL11B SYT2 FLVCR1 HADHB ADA2 DLAT CDC6 MT-TL1 TMEM38B RSPRY1 NALCN SHANK3 CSNK2B KMT2E SCO1 SH3TC2 TRMT1 VAMP1 TUBB ATP6V1A STAG2 SLC1A4 CRADD GDAP1 NGLY1 MAPK8IP3 TACO1 MT-TE TGFB3 MT-TF LINS1 PDE10A HADHA CLCNKA VPS13D PET100 INPP5K SAMD9 PTEN COG4 CHRNB1 TUBB3 SYNE1 NEUROD2 PLOD1 FTSJ1 WASF1 MSTO1 GMNN IFT52 MEF2C POMGNT1 MYPN COQ2 MYF6 TNFRSF11A MT-ND1 HSD17B4 PIGC KLHL41 GALC CTDP1 SCN1A AUH SLC45A1 ZNF148 LAMA1 SPEG HIBCH UBE3B LONP1 COX10 NPAP1 DCX ADAMTS2 TNPO3 VMA21 P4HTM TMCO1 AGTPBP1 TRIM2 RAPSN FIG4 CTNNB1 SLC12A6 IGF1 YY1 GBA DCPS MYL1 COG1 NFASC UBE3A COA8 COQ7 MUSK TAZ RUSC2 FGF3 COL12A1 SMPD1 PSMD12 INS KAT6B TRMU MYH7 UGDH COL6A2 PAK1 DAG1 CAMK2A SARS1 MAP3K20 PNPLA2 BIN1 PRMT7 UBE2A PREPL USH1C ASXL3 ATP6V0A2 DOK7 CC2D1A MT-TS2 GRM1 TBC1D24 HS6ST2 HACD1 POMT2 CLCNKB REPS1 PNP ITGA7 PCYT2 EXOSC2 C12orf4 MT-TN HERC2 SCO2 TLK2 COL1A1 TCF4 REV3L NONO PRPS1 EZR CLPB KATNB1 TRIP4 PUM1 LMNA PDK3 TANGO2 NSUN2 CUL4B TNIK TET3 COL3A1 PLXND1 ATG5 CDK8 SDHA FGD4 GRIK2 ZNF711 LMX1B TRPV6 EPG5 MECR FMN2 KBTBD13 ALDH5A1 MPDZ UNC80 GNPTAB PIEZO2 RORA SPR ACADSB ANTXR1 COG5 PTS PRX SPARC NDUFA1 LMOD3 CDK13 IARS2 UQCRFS1 BMPR1A STAC3 SLC9A7 RPS23 KLHL40 AHI1 SMC1A PACS2 TKFC VPS13B FOXG1 TSEN15 GRIA4 TNFRSF11B MKRN3 DARS1 BRPF1 ARCN1 EBF3 CNTNAP2 SPG21 MYL2 KCNA4 B3GALNT2 NDST1 SNORD116-1 SET ABCA2 SLC1A3 GFM1 PPP2CA MAPRE2 DNAJC19 POMT1 CHAT PAK3 METTL23 WASHC4 FLRT1 HOXA1 LARGE1 OPA1 RBM8A AHCY CANT1 SGMS2 WDR73 ATP6V1E1 RNU12 CWC27 KCNA1 NOTCH3 WWOX MAOA NAA15 EIF2AK3 TECR HYMAI CYP2R1 FLNA SLC25A42 KPTN GALE ALS2 KCNQ2 SLC6A3 PIGG GTF2E2 BSND TRIP11 SUFU FXR1 ARID2 AP3B1 FDX2 HP_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYNEUROPATHY ALAD DARS2 GSN MT-ND6 TBC1D24 SNAP29 PSAP SLC12A6 TTR ERCC6 SEPTIN9 MT-ND1 COQ7 ARL6IP1 DMXL2 ATP7B PEX12 AIFM1 DGUOK CD59 MT-ND5 SLC25A19 MT-CYB PDYN SETX CYP7B1 MT-ATP6 PEX11B FUCA1 PIK3R5 DHH PDK3 MT-ND4 NGLY1 GCLC GRM1 OPA1 MT-ND2 ABHD12 ERCC8 MYD88 EDNRB C12orf65 FAM126A PEX7 LDB3 PMM2 PRPS1 ABCD1 MT-CO3 MT-ND4L SH3TC2 NAGS MYOT RPIA HP_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_ATROPHY VPS11 HEPACAM HTT MPLKIP MICOS13 NKX6-2 FMR1 NARS2 ATXN8OS RUBCN COG7 SPTBN2 ERCC3 SPTAN1 TPP1 NADK2 AARS2 SACS CRAT SYT14 PDYN TDP1 RRM2B ADSL OPA3 TTBK2 C19orf12 RNASEH2A UFM1 PCNA POLG2 AP4E1 KIF1A TGM6 ATP1A3 MTHFS WDR45 DNMT1 ATXN3 RARS2 SHANK3 PNPLA6 SLC25A22 RNF113A SLC35A2 CACNA1G ATP6AP2 L2HGDH PIGQ ELOVL5 WDR4 TBCD UCHL1 CKAP2L TSEN2 STUB1 MAN2B1 KCNC3 MAG SEPSECS SERAC1 PIGN EXOSC9 SLC39A8 SCARB2 PRUNE1 CRPPA LAMA2 ATXN1 SLC39A14 FA2H APTX LYST COL4A1 PNKP FAR1 VARS1 TRAPPC6B COA7 SLC9A1 TBP TAF1 KCTD7 ITPR1 MFSD8 DHX30 ABHD12 SYNE1 TRAPPC11 CNTNAP1 BCAP31 HERC1 SRD5A3 ATAD3A COQ9 CLPB COG8 FGF12 VLDLR MRE11 DARS2 ATP2B3 DMXL2 TTC19 TUBB4A CLN5 GTPBP2 SLC9A6 PRKCG CLCN7 ZNHIT3 PEX2 PLD3 RNASEH1 CTBP1 SPG7 TXN2 LNPK KCNMA1 PLK4 PIGP SIL1 PIK3R5 RFC1 SLC25A46 TBC1D20 SCYL1 AP4B1 ANO10 AP3B2 PLA2G6 CARS2 STT3A TRPC3 GNAO1 FAT2 EMC1 IRF2BPL DPM1 VPS53 POLG EEF2 TARS1 PEX10 COL18A1 ATXN7 FKRP FKTN SPART MFF BCS1L NDUFS1 KCNA1 GRN ERCC6 MYH3 TK2 CDKL5 CCDC88C FGF14 TUBB2B BRAT1 PIGT PIGS MME KCND3 GDAP2 NEUROD2 DNAJC3 MGME1 CYB5R3 DNM1L SLC25A4 STT3B AFG3L2 TECPR2 SLC33A1 ARMC9 OPA1 ACO2 TRMT1 CTSD GRM1 RTTN ATP6V1A ATXN10 SLC1A3 SC5D STXBP1 GBA2 NGLY1 BEAN1 UBTF TOP3A ZNF335 COQ8A GTF2H5 COQ2 PPP2R2B KCNC1 HSD17B4 WARS2 ACTL6B ATP8A2 AP4M1 LAGE3 XRCC1 SNX14 SCN2A BCORL1 PRNP GTF2E2 NALCN AGTPBP1 ADPRS ALG9 CASK CIZ1 MDH2 AIMP2 UBA5 COG1 GPAA1 NFASC CLN8 PTRH2 POLR3B RNF216 MARS2 DAB1 PEX6 CYP27A1 PCLO FARS2 CYB5A FCSK POLR3A MORC2 ATP13A2 PMPCB EXOSC3 TMEM240 NDUFS4 GJB1 COG5 TRIM8 SAMD9L KIF1C REPS1 EXOSC2 ARX CYFIP2 EPRS1 MVK TWNK CCDC88A CACNA1A ALG3 LIPT1 DEGS1 VWA3B NUP214 BCL11A RORA POGZ NDUFA1 AP4S1 TBCE CDC42 SLC52A2 SQSTM1 IBA57 CTSF ERCC2 NOP56 EBF3 PACS1 ATXN2 NDUFA9 FBXL4 POMT1 SIK1 ELOVL4 ACY1 TBC1D24 SETX FRRS1L FOXRED1 TRAPPC4 ZIC1 IFRD1 RNU12 SUMF1 POLR1C WWOX GRID2 KCNJ10 TMX2 BTD MCOLN1 PIGG SCN1B WDR73 PLAA OSGEP WDR81 HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY VPS11 CTBP1 SLC1A4 SLC12A6 SLC6A8 PIGH SYNJ1 LMAN2L FRMD4A KIF7 KRAS NKX6-2 KCNAB2 POMT1 SLC13A5 B4GAT1 ARID1B FGFR3 RAB3GAP1 TCF4 RNASEH2C GPC3 CLP1 STIL UPF3B KIAA0586 SIX3 SACS MOGS ATRX TMEM138 SLC1A2 MED25 CHMP1A NSD1 SMO COX7B SCN8A HCCS RAB3GAP2 DNAL4 WDR35 CC2D2A WWOX MT-ND4 B9D1 KCNK4 CCDC174 ABAT DYNC1I2 CDK6 RNF113A SETBP1 ZC3H14 RAI1 HIBCH SLC35A2 ATP6AP2 L2HGDH PTCH1 MRPS16 PIGQ RPGRIP1 INPP5E PIEZO2 TCTN2 FGFR1 CACNA1B POMGNT1 SUFU ALDH18A1 TRAPPC12 SMARCB1 MAG TREX1 SEPSECS NEDD4L NFIX BUB3 CEP290 DDX3X FLCN ARL3 KDM1A KLHL7 FANCI FA2H BRF1 DDHD2 TRAPPC9 RAB23 COPB2 VARS1 RAB18 TCTN1 WDR45B TAF1 TBC1D20 TMEM67 MPLKIP MED23 GMPPB OFD1 TOE1 CDON PHC1 FGF8 SSR4 BCAP31 SUZ12 EBP ARL13B ACTL6B HSD17B4 EEF1A2 KCNB1 CEP104 TUBB2B LETM1 TDGF1 ZFYVE26 AP4B1 GPKOW HACE1 RAC1 RARS1 KCTD7 CEP57 SMARCD1 KIF2A GPC4 MACF1 SLC9A6 RNF13 PPP2R5D C12orf57 EP300 DIS3L2 CLTC TGFB1 ALX3 ARMC9 ANKRD11 EXTL3 DEAF1 SIN3A CYP2U1 POMT2 HESX1 WDPCP FKTN PIGP CRPPA ERCC3 NCAPD3 PLAA FRRS1L DCHS1 UBA5 TAF2 PCGF2 L1CAM PDHX KDM5B NANS GNAO1 ADAR CEP41 TBCK IFIH1 CARS2 PGAP1 PTDSS1 STAG2 CPLX1 CREBBP OTUD6B DIAPH1 MAN1B1 UGP2 LMBR1 WDR34 PARS2 IQSEC1 RERE IRF2BPL KIF14 MT-ND6 VPS53 TMCO1 GALC NSD2 MT-CYB MKS1 LMNB1 SIX6 DCC MED12 ERLIN2 PPP2R1A NODAL DYNC2H1 KCNA1 SMARCE1 KIDINS220 KIAA1109 SRPX2 USP7 ARX BRAT1 PIGN FGF12 PIBF1 SHH CILK1 ARID2 CRBN HIVEP2 EIF2S3 IGF1R ALX1 FAT4 PDHA1 AP5Z1 KCNA2 DLL1 QARS1 GDF1 DNM1L FGFR2 NR2F1 ITGB6 CWF19L1 MT-TL1 POLR3A THOC6 POU1F1 PDE6D DNM1 OSTM1 ASNS RNU4ATAC DHCR7 KMT2E SNAP29 GLUL RTTN TUBB SCN3A STXBP1 AIFM1 TCTN3 GBA2 RECQL4 FKRP MAPK8IP3 MCPH1 NUP188 UBTF MT-TF RPS6KA3 CDK5RAP2 GRIN1 AMER1 SPATA5 B3GLCT TUBB3 KCNT1 PRDM16 VAMP2 MRPS22 MEF2C NEUROD2 POMGNT2 PROP1 IFT52 ARHGAP31 MT-ND1 SPG11 PSAP COG4 SLC45A1 AP4M1 UBE3B PAH PIGG DCX SCN2A TMEM216 RSPRY1 ACTB GLI3 PRKDC MSH2 HTRA2 TRMT10A POMK NID1 COASY POLR3B RAD51 TARS2 WDR60 PPP2R3C MFSD2A NHLRC2 BCOR CNTNAP1 LARGE1 MBTPS2 KCNQ2 DISP1 CYP11A1 LRP2 GLDC ADAT3 ASPM CEP63 COG2 NAA10 MT-TS2 PAFAH1B1 CYFIP2 CENPF DOCK7 SOX2 C12orf4 EARS2 ZDHHC9 RHOBTB2 NONO EPRS1 MAP11 TNIK ATN1 PCNT COL3A1 LIG4 CDK8 ZIC1 YWHAE VWA3B EPG5 PIK3R2 FMN2 HYLS1 KIF15 GRIN2A IGBP1 WDR26 BRAF ACTG1 CACNA1E ZNHIT3 ZBTB20 AP4S1 CDK13 TMEM106B TBCE DISC1 SMC1A KAT6B FH PUF60 IBA57 GLI2 CDC42 ERCC2 DPH1 FLII TUBB2A PNKP BMP4 B3GALNT2 NDST1 PRPS1 POGZ PPP2CA KCNT2 GPX4 ALDH6A1 ATP6V1A HIC1 DHCR24 GABRD TBCD CDK10 SMARCA4 CSPP1 AHDC1 RNASEH2A OTX2 POLR1C GABRA5 C12orf65 NDUFB11 SLC25A19 AHI1 ZSWIM6 TMX2 ANKLE2 BUB1B AMT MCOLN1 EXOSC8 SETD2 NDE1 SCN1B OSGEP NKX2-1 CCDC47 TMEM231 SOX3 PRRX1 NARS2 NTN1 KIFBP DDX59 FOXG1 COG7 SLC6A9 SPTAN1 CNKSR2 NADK2 FOXH1 CEP55 PDYN PORCN FGFRL1 DPYD PNPT1 ACY1 PAX6 CEP135 TRAK1 SOX11 KANSL1 KNL1 PHGDH SHOC2 HRAS EML1 MT-TQ SNIP1 SHANK3 GABRA2 KMT2A SLC25A22 CLIP1 TMTC3 GPSM2 MTOR HSPA9 TSEN2 FLI1 GAS1 TMEM70 MT-CO3 NRAS C2CD3 UNC80 AKT3 RPGRIP1L FBXO31 PRUNE1 TGIF1 DONSON MBOAT7 IQSEC2 SKI TRAPPC6B SZT2 CPLANE1 PUS3 RNASEH2B VAX1 STAMBP HERC1 TECPR2 PEX1 MT-TH TBC1D23 CACNA1A TMEM237 RBM10 DARS2 GPT2 DMXL2 GABRG2 TUBA1A GTPBP2 MOCS2 CEP120 BICD2 ARNT2 NDUFAF5 FRMPD4 LNPK NECAP1 LYRM7 GRIA3 ZBTB18 AARS1 WDR62 GFER TTI2 PRSS12 ERCC6 AP3B2 NELFA CENPJ RXYLT1 YWHAG MT-CO1 NSUN2 WT1 TRRAP MT-ND5 NFIA RSRC1 ARSI ST3GAL3 EMC1 PYCR1 ZEB2 EHMT1 SOX4 TARS1 SASS6 FLVCR2 SON SLC25A24 ALX4 AHCY ARID1A LHX4 CPT2 PYCR2 EFNB1 MSH6 CDKL5 TUSC3 PMS2 BUB1 DAG1 PPP1R15B AIMP1 MT-CO2 DHDDS CLCN4 USP9X NT5C2 EDC3 SPECC1L ARFGEF2 TMEM107 HCN1 PRMT7 RB1 SYNGAP1 OPA1 EOMES RSPO2 ACO2 NALCN SMARCC2 EMX2 CRADD IFT80 LSS CTNNA2 MLH1 CSF1R LINS1 SMG9 GTF2H5 CENPE NPHP1 ATP8A2 ZFR ZNF148 ADNP NTRK2 LONP1 SAMHD1 TRIP13 GABRB1 CDK5 FIG4 GTF2E2 AGTPBP1 ZIC2 GCSH CASK CTNNB1 MDH2 AIMP2 YY1 ASXL1 DCPS KIAA0556 TAF13 KIAA0753 RUSC2 SALL1 KIF5C PCLO PIGC APC2 PIGA SARS1 ATP13A2 SPG21 ASXL3 CC2D1A FOXE3 AMPD2 PROKR2 WAC TRIM8 ATL1 MOCS1 REPS1 IER3IP1 EZR PSAT1 RMND1 KATNB1 ZNF423 DPF2 NUS1 MAF TYROBP CUL4B WNT3 DACT1 CCDC88A GRIN2D FAM149B1 GRIK2 MID1 GJC2 B9D2 METTL5 COL4A1 POLG2 ARV1 TMEM260 ACER3 VPS13B GRIA4 NDUFA2 MT-TW DARS1 GLRX5 FOXA2 SCYL2 WDR4 CEP152 NEXMIF GOT2 HNRNPU PPP3CA AP4E1 FBXL4 GFM1 GABRB2 HNMT MAPRE2 SIK1 METTL23 WASHC4 AHSG MAP2K2 ERMARD TUBGCP2 VAC14 PEX16 STUB1 DYNC1H1 TECR CIT WDR73 CD96 WDR81 TUBA8 HP_AGENESIS_OF_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CORPUS_CALLOSUM RSPO2 OSTM1 NKX2-1 CTBP1 SLC12A6 SOX3 PHGDH MPLKIP RTTN PRRX1 SMARCC2 FRMD4A KIF7 KRAS FGFR1 EMX2 KCNAB2 POMT1 NARS2 NTN1 B4GAT1 ARID1B SMO DDX59 RECQL4 IFT80 FOXG1 RAB3GAP1 MLH1 FKRP ARX MCPH1 GPC3 SMARCD1 LARGE1 CSF1R HESX1 MT-TF STIL CDK5RAP2 FOXH1 SIX3 FGFR2 GMPPB COX7B PDYN ATRX CDON PORCN RNU4ATAC AMER1 MED25 B3GLCT GTF2H5 TUBB3 KIF14 PRDM16 NSD1 FGFRL1 DPYD CENPE POMGNT2 HCCS PROP1 RAB3GAP2 DNAL4 WDR35 NPHP1 FKTN MT-ND1 MT-ND4 CEP135 SPG11 SOX11 KNL1 ZNF148 ZSWIM6 PIEZO2 EML1 ABAT DCX MT-TQ HYLS1 CDK5 FIG4 DYNC1I2 SHANK3 GTF2E2 ACTB GLI3 CDK6 RNF113A MSH2 ZIC2 HIBCH GCSH POMK GPSM2 PTCH1 MRPS16 HSPA9 INPP5E RERE YY1 ASXL1 LRP2 FLI1 TAF13 GPC4 CYP11A1 OTX2 L1CAM KIAA0753 RAD51 GAS1 WDR60 SMARCB1 TRAPPC12 MT-CO3 SALL1 C2CD3 LETM1 PPP2R3C MFSD2A SOX2 NFIX POMGNT1 PIGN MBTPS2 DISP1 TGIF1 FANCI GLDC ADAT3 PTDSS1 SKI ASPM CEP63 MT-TS2 PROKR2 CEP120 CENPF SMARCA4 OFD1 PHC1 VAX1 FGF8 DCC NDUFB11 POMT2 SUZ12 TUBB2B KATNB1 MT-TH TDGF1 DPF2 MAP11 MED12 WNT3 DACT1 TUBA1A GTPBP2 CDK8 ZIC1 MID1 DHCR24 WDR62 C12orf57 EP300 DIS3L2 EPG5 NDUFAF5 NSD2 PGAP1 KIF15 IGBP1 PYCR2 METTL5 ACTG1 ALX3 SHH SLC25A19 COL4A1 CRPPA CDK13 TMEM237 DISC1 ERCC3 ZBTB18 NCAPD3 DCHS1 ERCC6 TMEM260 KAT6B PDHX FH CEP41 NELFA CENPJ RXYLT1 GLI2 MT-CO1 CPLX1 CREBBP MT-TW RPGRIP1L MT-ND5 NFIA ERCC2 FOXA2 WDR34 SCYL2 PYCR1 DPH1 WDR4 ZEB2 CEP152 MT-ND6 EHMT1 SOX4 MT-CYB ARNT2 BMP4 TARS1 SASS6 MKS1 FLVCR2 HNRNPU SIX6 ALX4 PPP2R1A GPX4 FAT4 DAG1 NDE1 ARID1A NODAL DYNC2H1 LHX4 SMARCE1 KIDINS220 POLR3A CPT2 MSH6 GABRD PMS2 VAC14 COPB2 MT-CO2 EFNB1 ARID2 B3GALNT2 SPECC1L ANKLE2 AHI1 SUFU ALX1 PDHA1 BUB1B DLL1 GDF1 AMT CWF19L1 MT-TL1 CIT POU1F1 PUF60 EOMES TUBA8 HP_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTONIA GNB1 MICOS13 VPS11 SLC1A4 HEPACAM GLB1 SLC6A8 GLRA1 SYNJ1 LMAN2L NKX6-2 ERLIN1 TOMM40 ARHGAP31 SLC13A5 B4GAT1 REEP2 XPA RAB3GAP1 RNASEH2C EPCAM CLP1 MAG OSTM1 PLPBP NEFL OGDH CC2D2A PON1 ECHS1 SACS CLTC COASY SLC2A1 NDUFS7 ATRX NDUFV2 ADSL BOLA3 WASHC5 UCHL1 MTFMT SLC1A2 MED25 TRAK1 CHMP1A SCN8A CACNA1G MTRR RNASEH2A TERT RAB3GAP2 MCCC2 HLA-DRB1 WWOX DHPS RAD50 MLH3 ATP2B3 MSH2 AUH CNPY3 NUP133 NCAPG2 ATP7A KCNQ3 IREB2 KIF1A NUP62 MTHFS SIGMAR1 PAFAH1B1 WDR45 GJA1 DNMT1 SDHB ERCC3 HLA-DQB1 GAN TTPA DYNC1I2 NT5C2 NEK1 PNPLA6 RPIA RNF113A SETBP1 ZC3H14 ANK3 SLC35A2 L2HGDH PIGQ GATAD2B BCOR REEP1 MT-TW PCCA MECP2 NUP107 OCLN CACNA1B C9orf72 POMGNT1 UNC13A ALDH18A1 TRAPPC12 KIF5A TIMM50 PAX3 TREX1 ARX AGA SEPSECS RAD21 SERAC1 DDX3X CASK NALCN ERCC2 VPS13C EXOSC9 PSAT1 COL4A2 BCS1L DSTYK H1-4 ARSA KDM1A PLP1 LAMB1 SLC39A14 FA2H PEX7 BRF1 MTPAP NDUFV1 DDHD2 TRAPPC9 FAR1 COPB2 RAB18 PHGDH WDR45B TSEN54 ERBB4 TAF1 TBC1D20 ROGDI MED23 OPA1 NTNG1 TOE1 ABHD12 JAM2 USP8 ZSWIM6 SDHA EBP ATXN8OS NEXMIF ERCC4 ATAD3A EEF1A2 KCNB1 ACAT1 GTF2IRD1 MT-ND5 CLPB SDHD DDC LIAS ZFYVE26 NPC1 CTC1 AP4B1 CCNF SLC2A3 HACE1 SCN4A RARS1 PSAP PLA2G6 TTC19 ALS2 NTRK2 TUBB4A SPG11 KIF2A SELENOI MACF1 RNF13 GRIN2B GPHN PRDM8 B3GALNT2 EXTL3 SPG7 TREM2 CYP2U1 GALC CLIP2 FRMD4A KLC2 PIGP ZFYVE27 SIL1 C19orf12 SOD1 RAB27A PLAA FRRS1L GJC2 TRMT5 UBA5 ATP13A2 TAF2 L1CAM PDHX KDM5B ERLIN2 NOTCH1 BTD ADAR MRPS34 VCP PEX19 IFIH1 TARDBP SOX10 PGAP1 MLC1 MSH6 PMS1 OTUD6B TPK1 GNAO1 MAN1B1 OPA3 UGP2 PARS2 IQSEC1 EZH2 DNAJC6 IRF2BPL VPS53 MAPT LMNB1 NAGA HMGCL SIX6 DDB2 APP SPART NDUFA10 MT-TL1 GLRB TANGO2 KCNA1 ERCC6 MT-ND3 EIF2B1 KIDINS220 FUS CCT5 ELOVL4 SNCA NAA10 MT-ND6 RPS20 KMT2A HUWE1 BRAT1 FGF12 NDUFAF3 NIPA1 CCDC88C NDUFA4 FTL CRBN GDAP2 PAH EIF2S3 ABCC8 CYB5R3 SCN1B EYA1 GJB1 LYST NUS1 BCL11B AP5Z1 KCNA2 ATP6AP2 MT-TF DNM1L AMACR NR2F1 RTN2 POLR3A HDAC8 MTO1 HSPD1 TRIT1 ASAH1 DCTN1 DNM1 SOX4 ASNS DHCR7 BCKDHB EIF2B3 RTTN SCN3A DAO STXBP1 NDUFB8 AIFM1 GBA2 EIF2AK3 POLG PMS2 MAPK8IP3 BEAN1 POLA1 UBTF ERCC5 RPS6KA3 NDUFA13 GRIN1 ZNF335 ISCA1 GCDH SPATA5 TUBB3 KCNT1 ERCC1 MRPS22 HNRNPA1 SLC18A2 B4GALNT1 VAC14 IBA57 NCAPD3 SLC6A19 COG4 SLC45A1 AP4M1 MT-ND1 LAGE3 PODXL LBR GLE1 TUBGCP4 NACC1 DCX SCN2A SPAST ABCD1 PEX3 HTRA2 FKTN TRMT10A CACNA1A PDCD1 LRRK2 RNASEH2B GBA NFASC MAN2B1 IKBKG PPT1 POLR3B TARS2 TGFBR2 MARS2 AFG3L2 SLC30A10 MED17 PEX6 FXN VPS37A CNTNAP1 TPI1 KCNQ2 SPR SDHAF1 DDHD1 POMT1 ANXA11 COX10 FBXO7 MFN2 ADAT3 SEMA4A HEXA ATP6V0A2 WDR48 KYNU COG2 POLG2 BAZ1B CYFIP2 GRM1 EIF2B5 NDUFS4 CAPN1 CYP7B1 BCKDHA ATXN3 PCYT2 C12orf4 GMPPB EARS2 RHOBTB2 COA8 GRIN2D PIK3CA EPRS1 MIPEP TYROBP CPT1C ENTPD1 GLYCTK BSCL2 TNIK TACO1 CRLF1 PINK1 HLCS ALG3 VAMP1 BMPR1A PQBP1 ATAD1 TBK1 VWA3B RTEL1 MECR FMN2 APC MT-TP ACP2 PSEN1 WDR26 BRAF RNU4ATAC CACNA1E NDUFA6 PTS ATM SLC33A1 SURF1 AP4S1 TMEM106B TBCE RETREG1 SLC52A2 FIG4 DKC1 RLIM KIF1C KANK1 TSEN15 SLC6A5 SETX CHCHD10 PDHA1 SLC25A15 CNTNAP2 MLH1 RPGRIP1L SETD5 JAM3 RANBP2 HIKESHI KCNA4 PNKP MT-ATP6 CHP1 NDST1 PRPS1 ABCA7 KIF11 NDUFA9 NDUFS2 MT-ND4 MGAT2 EOGT KDM5C PEX10 FLRT1 DHCR24 DLD MT-TK TBCD COLGALT1 TRAPPC4 ATXN7 SLC25A22 WDR73 ATP6V1E1 MARS1 SUMF1 POLR1C MT-TV GABRA5 DPAGT1 PARN C12orf65 SLC25A19 ARL6IP1 ATXN1 TMX2 CACNA1D POMT2 ANKLE2 GM2A TDP1 SLC6A3 MCOLN1 EXOSC8 RNASET2 AARS1 NDE1 GBE1 SLC30A9 TBL1XR1 CLIC2 PHACTR1 SLC16A2 OSGEP SNX14 PFN1 NDUFS1 TMEM231 LIMK1 LIPT1 MPLKIP SUCLA2 EIF2B4 NARS2 SUOX MYO5A NOTCH3 SLC6A9 SPTAN1 NUBPL ELN NDUFS8 CNKSR2 NADK2 GSS AARS2 PNPLA8 PCCB ADAM22 RRM2B MED13L PNP PRPH PPARGC1A KMT2B BICD2 DPYD PNPT1 WDR4 CP ADD3 ELP2 ALG11 UFM1 ZNF592 XPC PPP3CA PET100 SLC17A5 AP4E1 NDUFAF2 TELO2 EML1 HSD17B10 PRNP MORC2 HPRT1 RARS2 DENND5A GABRA2 SCO2 PLK4 CLIP1 PSEN2 TMTC3 OPTN DOCK6 ZC4H2 TSEN2 CAMK2A GCH1 LIPT2 UFC1 UBAP1 SOX2 NTNG2 UNC80 PEX1 PIGN FBXO31 GFM2 DLL4 MBOAT7 CKAP2L PRUNE1 RERE COL4A1 RBPJ HNRNPH2 FOXRED1 TBP GAMT UBQLN2 KY SQSTM1 SYNE1 STAMBP GLRX5 PRRT2 DHDDS FARS2 TFG QDPR ASXL3 COQ9 STUB1 SMC1A TECPR2 PEX16 PEX11B SLC19A3 TBC1D23 DARS2 PEX5 GPT2 PRF1 RFC2 DMXL2 INPP5K GABRG2 MCCC1 TUBA1A GTPBP2 PEX12 MOCS2 IDUA GABRB2 FOXP1 STN1 ARNT2 NDUFAF5 NDUFA12 FRMPD4 ACOX1 ATXN2 TXN2 NECAP1 SZT2 ISCA2 LYRM7 FBLN1 FUCA1 NEFH TCF20 GRIA3 WDR62 PRSS12 GUF1 SCYL1 AUTS2 EPM2A YWHAG PAX1 RAB11B RSRC1 ARSI ST3GAL3 ACD EMC1 TIMM8A TOR1A TARS1 CARS2 COX15 TCTN2 ASPA CHMP2B SMPD1 ARHGEF9 TUBGCP6 MFF CFAP410 ARG1 PYCR2 CDKL5 TUSC3 KCNJ6 PPP1R15B AIMP1 NDUFA2 AP1S2 AMPD2 ALDH3A2 DNAJC12 TMEM67 CLCN4 ADCY5 EDC3 ATL1 NEUROD2 IARS1 NSUN2 PCBD1 EPHA4 SNORD118 FTO HCN1 SLC25A12 SLC25A4 SON TPRKB SYNGAP1 MFSD2A NDUFAF6 CTSD ATP6V1A FGFR1 CRADD CTNNA2 ACTL6B CSF1R PON2 LINS1 ARV1 VPS13D CLCF1 NIPBL DBT GTF2H5 HSPG2 RFT1 PANK2 PEX26 HTT HSD17B4 TUBG1 TUFM WARS2 ZFR EDNRB ADNP SAMHD1 ITM2B CNOT1 TP53RK MATR3 PON3 SMC3 ERF GTF2E2 MT-TI AGTPBP1 PITX3 LINGO1 CTNNB1 NPC2 DCPS GPAA1 HTRA1 GLT8D1 RUSC2 KIF5C GRIN2A CYP27A1 PCLO PIGC CYB5A PEX13 TRAF7 UGDH GABBR2 PIGA ACP5 SARS1 SPG21 PMPCB GAD1 FKRP PARK7 EXOSC3 CC2D1A NOTCH2NLC TAF15 NDP TRIM8 EIF2B2 MOCS1 REPS1 NPHP3 PNPO PEX2 AP3B2 EZR KATNB1 FAN1 PUM1 NDUFAF4 TWNK TTR GRIK2 GTF2I SORL1 LMX1B PSPH DEGS1 FLNA NUP214 THOC2 OPHN1 PMPCA GFAP SPTBN2 PCDH12 ADGRG1 NHLRC1 TINF2 LARGE1 ACER3 FOXG1 GRIA4 ATXN10 DARS1 NOP56 PLCB1 SCYL2 MPDU1 NSD1 PRKN TP53 KRAS GOT2 NDUFS3 GFM1 HNMT ANG DNAJC19 VAPB SIK1 METTL23 WASHC4 TBL2 PEX14 SUZ12 TUBGCP2 MT-ND2 ACTA1 DYNC1H1 TECR ARF1 MRE11 EED CIT FDX2 HP_ORTHOSTATIC_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION CYP11B2 GSN CAV1 GMPPA COQ2 IRF5 SPIB DBH DNAJC13 POU2AF1 LEPR SNCA ELP1 LMNB1 ARSA B2M GBE1 PSAP TTR GBA VPS35 AAAS LEP LRRK2 SIM1 TNPO3 IL12RB1 EIF4G1 HEXB CHCHD2 GIGYF2 NTRK1 TNFSF15 CYB561 MMEL1 ATP7A IL12A HP_SYNCOPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNCOPE ALG10B KCNE2 SLMAP KCNJ2 KCNE1 BAP1 KCNJ5 TERT TNFSF4 KCNE3 SMO CASQ2 JAK2 CAV3 HLA-DRB1 KCNQ1 SCN5A SCN1B AKAP10 HCN4 CACNB2 BVES SCN10A SCN3B KCNH2 KCNE5 CLCNKB GATA6 RYR2 THPO CACNA1C GATA4 TRPM4 PIK3CA DBH TNNC1 HLA-DQB1 TNNT2 LMNA TRDN RNF125 CALM1 PSEN2 SMARCB1 TECRL NOS1AP MYPN DSC2 AKT1 MOG MYBPC3 COQ2 JUP AKAP9 CALM2 RANGRF CACNA2D1 PSEN1 PKP2 SNTA1 ABCC9 NKX2-5 GPD1L HCRT CALM3 NR2F2 SCN4B ZNF365 P2RY11 KCND3 SCN2B SCNN1A KIF20A PDGFB SEMA3A MPL SMARCE1 ANK2 TRAF7 SUFU TNNI3 FLNC SLC12A3 KCNJ8 DSP NF2 CTSH CRELD1 HP_TETANY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETANY TBCE JMJD1C TBX1 SLC12A3 TRPM6 KCNJ1 TCIRG1 GP1BB ARVCF SLC12A1 SEC24C CLDN16 UFD1 COMT CASR PTH HIRA RREB1 CYP2R1 CYP27B1 HP_BULBAR_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_PALSY TARDBP MYO9A COL13A1 SLC52A2 GSN MATR3 CHCHD10 VAMP1 SQSTM1 AGRN TRPM7 ACTA1 RYR1 SNAP25 CHAT TBK1 NEB SLC5A7 DES SLC18A3 TK2 SLC52A3 VCP FUS AR PLAA SELENON ARSA DOK7 CHRNA1 ATXN1 C12orf65 TPM2 CHRNE LMOD3 SYT2 ABCD1 MYH7 SLC25A1 TPM3 C9orf72 DNAJB6 HP_AREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA TRIM32 DNAJC3 LIFR GMPPB ACO2 ERLIN1 GLE1 SNAP29 TRIP4 KARS1 CFL2 VAMP1 AARS1 NEB PMP22 TRPV4 LPIN1 ATXN3 FHL1 NARS2 SURF1 PLEKHG5 POLG SMN1 ALG2 KLHL9 SMN2 NEFL DNM2 LARGE1 ADCY6 LRSAM1 EGR2 CD59 SACS HADHA TDP1 RRM2B BICD2 OPA3 MPZ ATP1A3 POMGNT2 TBCK HARS1 ATP1A1 IBA57 MYF6 MFN2 LAMA2 HSD17B4 LGI4 HSPB3 VAPB KLHL41 AIFM1 DCAF8 RYR1 MEGF10 SBF1 SLC5A7 VPS13A SPEG PIK3R5 COLQ XRCC1 MORC2 MPV17 CDK5 RAB7A MME GAN TTPA PRNP PNPLA6 TRIM2 ATP6AP2 MT-TT FIG4 HK1 SLC12A6 TCAP COL13A1 ZC4H2 MYL1 MYOT ALDH18A1 RNASEH1 MAG FXN MARS1 DES KIF1A TWNK MYH14 VCP PLEKHG4 POMGNT1 UGDH DYSF TPM2 LRP12 PNPLA2 BIN1 APTX LYST ACTA1 COX6A1 PNKP RAI1 RFC1 POLG2 DST ABHD5 POMT2 CNTNAP1 PLEC GOSR2 GDAP1 OCRL PRPS1 SCO2 COL12A1 JPH1 LMNA GNE POMT1 TECPR2 PEX1 CHCHD10 RMND1 SPTBN4 ALG14 RNF170 HSPB1 REEP1 MRE11 PDK3 MYO9A MED25 JAG1 SLC52A2 PEX3 INPP5K SIL1 AGRN SNAP25 FGD4 PPP2R5D DPAGT1 KBTBD13 TPM3 FKRP PIEZO2 CHMP2B ORAI1 SQSTM1 PRX FKTN XK COL4A1 PEX11B CRPPA C19orf12 RETREG1 PEX12 INF2 MCM3AP STIM1 WNK1 MYPN MTM1 PEX5 ACER3 ASAH1 CNTN1 DKK1 ENTPD1 PLA2G6 RXYLT1 SPG11 PGM3 DNM1L TYMP ALG1 NDRG1 SLC25A1 ARSI SCYL2 POMK GAA CARS2 PEX2 MTMR14 KCNK9 KIF1B HSPB8 ARL6IP1 CHAT HINT1 DAG1 PDXK ERCC6 SLC18A3 SYT2 TTN SBF2 B4GAT1 SOX10 TBCD SETX ALG6 SCN9A IFRD1 ASCC1 IGHMBP2 LAMB2 B3GALNT2 PDSS1 TFG PYROXD1 ATXN1 C12orf65 GFPT1 GJB1 FLVCR1 SAR1B HADHB DNAJB2 SLC25A4 SLC25A21 UBA1 FXR1 OPA1 HP_SPASTIC_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPARESIS ALS2 L2HGDH SOX4 PSAP SDHAF1 PRPS1 ATP6V1A FAR1 ADAR LIPT2 SDHA LMX1B LIPT1 MT-ATP6 GM2A GSS REEP1 ERLIN2 FA2H KCNQ2 KCNJ6 PRUNE1 RERE PSEN1 TRAPPC4 LYRM7 FBLN1 SLC18A2 TBCE WDR62 PRDM8 EIF2S3 AUH STXBP1 MOCS1 STAMBP EARS2 NUP62 IFIH1 PAFAH1B1 EXOSC8 COA8 SDHB PSAT1 SDHD MFSD2A PHACTR1 SLC35A2 HP_MENINGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGITIS NLRP3 CYBB CYBC1 RFXANK TBK1 BCL6 CYBA IL12A CR2 PRF1 HLA-B CARD9 TLR3 BCL2 BLNK WIPF1 RAG2 MEFV CD79A FOXP3 NCF2 WAS CD19 BTK VANGL1 C4A IL12A-AS1 CTLA4 DNASE1L3 CXCR4 UBAC2 IL10 IGHM TCF3 TFRC CIITA PIK3R1 NCF4 IGLL1 STAT4 C8B PTPN22 IL23R NCF1 XIAP C4B ERAP1 CCR1 NDE1 RFX5 TNFRSF13C HLA-DRB1 KLRC4 CD40LG HLA-DPB1 RFXAP SH2D1A HLA-DPA1 LRRC8A CFB TLR4 C8A RAG1 CD79B ICOS JAK3 FAS PRTN3 TNFRSF13B HP_GAIT_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_DISTURBANCE GNB1 PDGFRB MICOS13 SMARCAL1 SGCD CAMTA1 SLC1A4 GLB1 SLC6A8 THOC2 NEB NKX6-2 FKRP FMR1 PMP22 KCNAB2 GNB4 ERLIN1 GBA SLC13A5 REEP2 RUBCN COMP TIA1 TCF4 EPCAM SPTBN2 MEFV NEFL SACS CRAT TBP COASY ADSL WASHC5 UCHL1 CHD2 EGR2 SLC1A2 MED25 OPA3 TRIM32 SCN8A CACNA1G KMT2A SNCA DNA2 CCR1 WWOX TRPV4 DHPS MT-ND4 TPM2 LAMA2 MLH3 ATP2B3 MSH2 NR4A2 NKX2-1 ANOS1 LMNA KIF1A B9D1 EEF1A2 NUP62 ATP1A3 GIGYF2 COLQ GJA1 AKT1 SDHB GAN TTPA NDUFAF6 DYNC1I2 NT5C2 PNPLA6 RNF113A RAI1 MMP13 SLC35A2 ATP6AP2 CCN6 COQ2 XRCC4 CAMK2B INPP5E HSPB1 REEP1 MT-TW TCTN2 MYH7 STUB1 CUX2 MAPT CACNA1B KCNC3 SELENON CHRNG ALDH18A1 GYG1 KIF5A C12orf4 TREX1 YWHAG CAPN3 C4A SERAC1 DDX3X DYSF PURA VPS13C ARL3 SLC39A8 LRP12 GABRG2 SCARB2 DSTYK ARSA DMD MME ATP5F1D TRAPPC11 SLC39A14 FA2H RFC1 VARS1 GEMIN4 TCTN1 WDR45B DOCK3 COA7 TBR1 FLRT3 ORAI1 SLC9A1 CHD3 SGCG TAF1 SLC18A3 KISS1R LRAT WNT3A GMPPB OPA1 LDB3 USP8 LRP5 ZSWIM6 CHCHD2 ADSS1 ARL13B ACTL6B ATXN8OS SUFU FAM126A ATAD3A MICU1 NHLRC1 KCNB1 GNE TUBB4A CEP104 GTF2IRD1 MT-ND5 SDHD HTRA1 NF2 FAS KIAA0586 ZFYVE26 HNRNPA2B1 AP4B1 MYH3 HACE1 MRE11 SCN4A RARS1 PSAP NTRK2 AGRN SGCA POLG SMO MTR ACTA1 TK2 SLC9A6 SNCAIP LRRK2 PRKCG PPP2R5D DCC PEX2 EP300 POU3F4 PLD3 CLTC ARMC9 BAP1 B3GALNT2 EXTL3 DEAF1 CTBP1 SPG7 SLC25A19 CYP2U1 CACNA2D2 CLIP2 SQSTM1 HESX1 PEX5 KLC2 ZFYVE27 DPM3 SIL1 C19orf12 IL23R ERCC3 ERAP1 GJC2 MCM3AP UBA5 ATP13A2 NOP56 PDHX ERLIN2 DMPK ADAR CEP41 MRPS34 DKK1 IFIH1 PLA2G6 RNF125 UQCRQ MSH6 PMS1 CREBBP OTUD6B SLC25A1 PARS2 FKTN FAT2 MYH2 MAST1 RAB39B DNAJB6 DNAJC6 MT-ND6 RRM2B GALC HLA-B GARS1 EEF2 PROKR2 MED12 PRKRA CHAMP1 SPART C11orf95 HINT1 SCN9A MT-TL1 GLRB POMT1 TANGO2 RFXANK MT-ND3 MPZ EIF2B1 MYPN TGFB1 FUS CCT5 SBF2 RPS20 RYR1 USP7 PPP2R1A AR NOTCH3 BRAT1 ST3GAL3 KCNA1 FGF12 RPL10 PIBF1 NIPA1 NOG CCDC88C TIMM8A FTL GDAP2 TPM3 EIF2S3 TTN GFPT1 EIF4G1 GJB1 BCL11B AP5Z1 KCNA2 KDM5B MTRR FLVCR1 PEX10 DNM1L RTN2 CWF19L1 FBXO38 SCN1B GABBR2 FGF14 ANO5 PDE6D ITPR1 C9orf72 DNM1 KLHL41 PRDM5 KARS1 SH3TC2 EIF2B3 SCN3A ATXN10 AIFM1 STRADA TCTN3 GBA2 CHMP2B DHTKD1 GDAP1 NGLY1 PMS2 MAPK8IP3 BEAN1 MT-TF RPS6KA3 NAT8L PGAP3 CCDC28B PDE10A GRIN1 QRICH1 SYNJ1 TUBB3 MYOT PRDM16 VAMP2 SLC18A2 NEUROD2 B4GALNT1 WASF1 MSTO1 TBCK HARS1 ATP1A1 MEF2C PIK3CA VAC14 PPP2R2B MYF6 MFN2 MT-ND1 SPG11 DCAF8 WNT1 HS6ST1 SBF1 AP4M1 CAD GRID2 PODXL XRCC1 NACC1 SPAST RSPRY1 RAB7A BCORL1 DCPS TRIM2 FBN1 PIGP GABRA1 TRMT10A TONSL FIG4 TCAP MARCHF6 TMEM107 UBE3A MAN2B1 POMGNT1 TGFBR2 MARS2 SLC30A10 DAB1 EED PEX6 FXN PLEKHG4 TPI1 NEU1 PDYN FCSK DDHD1 AFG3L2 IKBKG COL10A1 BIN1 FBXO7 VPS37A SEMA4A TWNK WDR48 POLG2 GCH1 HTRA2 TMEM240 BAZ1B SETX MT-TS2 CYFIP2 GRM1 EIF2B5 COL9A1 FLNC VPS35 UBA1 CAPN1 AP1S2 CYP7B1 BICD2 SAMD9L ATXN3 HTT TRAF7 MKS1 TRAPPC2L TLK2 L1CAM RHOBTB2 UBTF COA8 EPRS1 CASK SIGMAR1 CPT1C ENTPD1 RNF170 BSCL2 PDK3 CERT1 SLC16A2 PINK1 ATN1 ADAT3 CDK8 VAMP1 BMPR1A VCP ATAD1 EXT2 VWA3B CHCHD10 MECR APC MATN3 HSPD1 GNPTAB TACR3 UROC1 WDR26 CHST3 CACNA1E COL2A1 PTS PIGL APP ATM SLC33A1 PRKAR1B STAT4 AP4S1 MMADHC TMEM106B MPV17 PIGO SLC52A2 DOK7 KY ALS2 RLIM KIF1C PACS2 TSEN15 SMARCB1 IBA57 ERBB4 STXBP1 DUSP6 TMEM67 MBTPS1 ERCC2 DHH HPCA COL9A2 POC1A MLH1 FLII CYP27B1 MYL2 KCNA4 MECP2 ATXN2 MT-ATP6 NSMF DOCK7 BBS1 PRPS1 MGAT2 PRNP CHAT SLC20A2 FLRT1 ELOVL4 FHL1 SLC6A17 PIGW MT-TK CANT1 GABRD FRRS1L CFAP43 FOXRED1 MTFMT CDK10 SCN1A GALT IGHMBP2 RNU12 RNASEH2A OFD1 MT-TV GABRA5 C12orf65 ARL6IP1 AHI1 SMARCE1 PLP1 CYP2R1 CUL4B POMT2 TDP1 PDE8B MAB21L1 HYLS1 PNPLA2 KCND3 PIGG DNAJB2 GBE1 GTF2E2 SLC30A9 SLC34A3 FEZF1 EFL1 SNX14 PPM1D SMS GLE1 PIGY DYNC1H1 DNAJC13 LIMK1 CFL2 MPLKIP SUCLA2 EIF2B4 GPHN LAMP2 PLEKHG5 KLHL9 ARL6 DNM2 NUS1 NUBPL TPP1 ELN LRSAM1 IL12A-AS1 CNKSR2 RELA PNPLA8 SYT14 CPLX1 SYNE2 TH FGF8 CLIC2 KMT2B LRP4 PDP1 EPM2A CDKL5 DYRK1A PCNA TRAK1 HSPB3 PPP3CA KLRC4 SLC17A5 ERCC8 SLC5A7 TGM6 TELO2 WARS1 ALG14 DAG1 MT-TQ MORC2 MCOLN1 GABRA2 HK1 SYNE1 MMP2 ADCY5 KDM5C MTOR ELOVL5 COL13A1 CAMK2A ATCAY PABPN1 UBAP1 MT-CO3 MTHFR DES NTNG2 UNC80 RPGRIP1L MBOAT7 CRPPA ATXN1 APTX IQSEC2 SKI HNRNPH2 CCDC141 CPLANE1 PUS3 DHX30 RNASEH2B PLEC HERC1 GLRX5 SLC25A4 FARS2 TFG CLN3 ASXL3 TECPR2 MT-TH PIGV TBC1D23 CACNA1A TMEM237 VLDLR DARS2 MYO9A RBM10 GPT2 IL12A RFC2 SLC6A5 SDHAF1 NOL3 FAR1 GTPBP2 KCNQ2 SNAP25 GRN GABRB2 DPAGT1 GCDH SOX10 ACAN RNASEH1 TMEM43 BVES ACOX1 NDUFS8 LNPK NECAP1 KCNQ5 PMPCA SZT2 EMD LYRM7 DDHD2 SLC25A15 AARS1 INF2 CEP120 SLC25A46 SUCLG1 MTM1 VDR MAFB SCYL1 CHKB ANO10 MT-CO1 TRPC3 SLC12A5 RAB11B SBDS NDRG1 JPH3 ARSI SLC19A3 ALG2 DYM WDR81 PCDH19 TARS1 ELP1 MTMR14 ATP8A2 ASPA ATP7A MFF FGF17 LTBP4 DDRGK1 RNASEH2C PYCR2 MTPAP PPP1R15B CIITA AMPD2 UFSP2 MT-CO2 PIGS DNAJC12 DHDDS CLCN4 USP9X ATL1 DNAJC3 MAGEL2 SNORD118 SLC2A1 PMP2 HCN1 SYT2 SPRY4 HADHB LAMB2 ASAH1 SCN2A SLC25A21 TOR1A SYNGAP1 SATB2 PGAP2 MFSD2A SHANK3 HNRNPA1 ATP6V1A RANBP2 STAG2 ADH1C SURF1 FGFR1 PDGFB CTNNA2 ZBTB20 TOP3A HADHA VPS13D EMC1 INPP5K GTF2H5 CHD4 LMOD3 ARX WDR11 CAV1 YY1 HSPG2 NPHP1 CSPP1 HSD17B4 INTS1 ZFR SPEG IL17RD SAMHD1 PIK3R5 CC2D2A P4HTM CHRND ATRX AGTPBP1 CIZ1 SGCB MDH2 RFXAP AIMP2 ZNF469 RERE SELENOI GPAA1 KIAA0556 MLXIPL CA8 TAZ MARS1 UBAC2 PAK1 SLC39A13 TTBK2 SPG21 MAP3K20 FN1 PREPL COX6A1 NAA10 PARK7 VHL TREM2 ABHD5 HACD1 EIF2B2 GOSR2 REPS1 ITGA7 PNPO SCO2 AP3B2 TLR4 PANK2 RIC1 FAN1 PRKN TYROBP VPS33A CRYAB MATR3 TERT TUBB2B GRIN2D FAM149B1 CSF1R SYT1 SDHA FGD4 GTF2I LMX1B ATP7B KBTBD13 PGAP1 OPHN1 PIEZO2 IL10 COL12A1 PSEN1 PRX NRXN1 RNF168 ADGRG1 NEFH KIF7 DNAJC21 KIAA0753 LARGE1 VPS13A ARV1 TKFC HERC2 GRIA4 THRA ALPL SRP54 ARCN1 PROK2 CLCN2 PACS1 KRAS PLOD1 GOT2 ABCA2 AP4E1 KIF1B HLA-DQB1 TRIO TBL2 TMEM216 ERMARD DCTN1 LMNB1 GLRA1 MT-ND2 PTH1R MT-TE GABRB3 IFRD1 GMPPA SEMA3A FKBP10 LYST CHD7 EIF2AK3 COL9A3 MAN1B1 MAPK10 STAC3 FLNA ZMPSTE24 RFX5 SPATA5 GLUD2 LMNB2 FDX2 HP_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFUSION PSEN2 TBK1 ERCC5 DNMT1 IL12A HLA-B GNAS TLR3 SLC22A5 ABCA7 APP CPOX NAGS TOMM40 MAN2B1 SLC25A13 CUBN PRNP HLA-DQB1 SORL1 TREM2 FIG4 NOTCH3 SLC2A1 MEFV ADAMTS13 PRDX1 CACNA1A C4A IL12A-AS1 ATP13A2 POLR3A UBAC2 MMACHC PSEN1 IL10 CHRNA2 MT-TE STAT4 SLC25A15 IL23R ERAP1 HADH NHLRC1 CCR1 PRDM8 PPOX KLRC4 TBP EPM2A SLC19A3 ERCC4 ERCC2 ATP1A2 TLR4 ERCC3 FAS HP_GENERALIZED_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOTONIA GNB1 KMT2D CTBP1 SLC1A4 SLC6A8 THOC2 PHF6 PIGH MICOS13 SYNJ1 LMAN2L NEB ELP1 NKX6-2 SLC13A5 TSFM SCN8A RAB3GAP1 RNASEH2C POLG SPTBN2 NDUFV1 MAG OSTM1 ADCY6 CD59 CC2D2A SIX3 ECHS1 CRAT DDX11 MOGS CLTC NDUFV2 ADSL BOLA3 EGR2 MTFMT SLC1A2 CBL CHMP1A PUS7 KMT2A WWOX CEP41 DHDDS TPM2 GFPT1 LGI4 POLG2 NCAPG2 USP9X SRD5A3 ATP1A3 KCNK4 SDHB SLC7A7 GAN NDUFAF6 DYNC1I2 RNF113A ZC3H14 ANK3 HIBCH CEP57 KCNH1 CAMK2B DLD BCOR COL6A1 MT-TW CCDC78 DHFR NFIX NDUFA12 CACNA1B KCNC3 POMGNT1 SELENON INPPL1 SMARCB1 COX8A PAX8 C12orf4 STX11 AGA SERAC1 DDX3X CASK TSHB FLCN EXOSC9 SLC39A8 BCS1L VRK1 ARSA KDM6B KDM1A DMD PLP1 LAMB1 TRAPPC9 FBXO11 FAR1 VARS1 NDUFA11 DOCK3 TBR1 ARHGEF2 CHD3 TAF1 SLC18A3 MED23 TRAPPC11 SOX9 SSR4 UQCC3 ZSWIM6 SUZ12 EBP FKRP ACTL6B COLQ RPS6KA3 EEF1A2 MAGEL2 KCNB1 LTBP4 PMM2 LETM1 SDHD LIAS SNORD115-1 NPC1 MRE11 RAC1 PSAP ETHE1 NTRK2 COX6B1 TMEM199 MTR CPT1A TK2 GPC4 MACF1 LMBRD1 RNF13 GRIN2B PPP2R5D DNMT3A COX14 PEX2 MKS1 DPF2 C12orf57 EP300 AIFM1 TGFB1 DGUOK ALG13 KIF14 EXTL3 SIN3A SNRPN COG6 FKTN SIL1 C19orf12 PEX12 ERCC3 PDHB FRRS1L TRMT5 MCM3AP UBA5 PEX5 NEU1 KDM5B NANS GTPBP3 MRPS34 RETREG1 NPHP1 PLA2G6 RNF125 UQCRQ PGAP1 PTDSS1 STT3A STAG2 CPLX1 CREBBP OTUD6B TMEM94 TPK1 MN1 DIAPH1 MAN1B1 ACAT2 PARS2 ATP6V1B2 IQSEC1 CRPPA CYP24A1 MAST1 EZH2 IRF2BPL CIC TBC1D24 FBP1 NAGA KCNK9 SIX6 CHAMP1 NDST1 PACS1 NDUFS1 TANGO2 PRDX1 KCNMA1 EIF2B1 ARL3 ALPL KIAA1109 STRA6 NKX2-1 HECW2 PWRN1 PBX1 PPP2R1A HUWE1 ARX PIGT ST3GAL3 FGF12 LAMB2 DNA2 ACAD9 SLC35C1 XYLT1 CRBN HIVEP2 EIF2S3 SCN1B FAT4 PDHA1 KIAA0556 NUS1 BCL11B KCNA2 QARS1 MTRR FLVCR1 ALG8 MMADHC POLR3A MTO1 GABBR2 HSPD1 SLC33A1 PDE6D OTX2 ARMC9 GNB5 TRIT1 ITPR1 GMPPB DNM1 SOX4 CSNK2B RNU4ATAC COL13A1 KMT2E NSDHL BCKDHB EIF2B3 GLUL GRM1 MYO18B TUBB SCN3A CHD1 STRADA TCTN3 PPP1CB MAPK8IP3 TACO1 COL6A2 NAT8L PGAP3 GRIN1 CLCNKA QRICH1 TDP2 CPLANE1 B3GALT6 AMER1 COQ8A GCDH KCNT1 SYNE1 MRPS22 SLC18A2 PLOD1 WASF1 MSTO1 MANBA MEF2C MYF6 TNFRSF11A ARHGAP31 HNRNPU ATPAF2 SLC9A6 COG4 CHRNE SLC45A1 LAMA1 TMEM237 CAD UBE3B GRID2 LAGE3 STT3B COL12A1 COX10 PIGG NACC1 WASHC5 PC RSPRY1 BCORL1 MMUT DCPS FMN2 ALG12 ACTB TRIM2 USP18 HTRA2 ALG9 CACNA1A MYO5A SLC12A6 TMEM107 NFASC UBE3A COA8 MAN2B1 PPT1 KIF5A TARS2 EED PSMD12 KAT6B ACADL TRMU HADHA MYH7 TPI1 MMACHC TMEM165 KCNQ2 FCSK GNPAT HCFC1 BIN1 RYR1 PMP22 GLDC ADAT3 BRWD3 DMPK HEXA FLAD1 CYFIP2 EIF2B5 NDUFS4 ATIC AP1S2 BCKDHA TOE1 DCC CLCNKB PIGO CWF19L1 TLK2 COL1A1 RHOBTB2 NONO NDUFB8 MIPEP MVK TNIK TET3 PGAP2 PLCB4 KIAA0586 HLCS SLC17A5 CDK8 INPP5E MED25 EPG5 HADHB APC TPM3 ACP2 WDR26 BRAF SPEG ACADSB ZNHIT3 ZBTB20 NDUFA6 PIGL IFT81 CDK13 TMEM106B TIMM50 TBCE PIGV SLC9A7 STXBP1 NDUFS3 ERF RPS23 FH RLIM PACS2 PUF60 PUS3 TSEN15 SPART PRKD1 ARL13B CDC42 ALG1 ERCC2 SLC25A15 CD96 CNTNAP2 POC1A MPC1 OFD1 CYP27B1 RPGRIP1L HIKESHI TUBB2A TKT ATXN2 B3GALNT2 SNORD116-1 POGZ DDOST POU1F1 COL6A3 TRPS1 MGAT2 PPP2CA PRNP KCNT2 GPX4 POMT1 ALDH6A1 ASXL2 SERPINH1 ATP6V1A ACY1 LARGE1 PHIP CANT1 SLC35A3 RET ADK COLGALT1 FOXRED1 PEX10 PEX6 CDK10 SMARCA4 CSPP1 AHDC1 NDUFA13 GABRA5 SLC25A26 NOTCH3 DPAGT1 ATXN1 BPTF KCNJ10 IARS2 NUP133 KIF7 CYP2R1 HEPACAM BUB1B C12orf65 IFIH1 TRHR GALE AMT NDUFS7 MCOLN1 MCCC2 PNPLA2 AARS1 MRPS2 SLC34A3 KDM6A EFL1 PHACTR1 OSGEP OXR1 PPM1D HACE1 GLE1 CCDC47 CFL2 MPLKIP MRAS B4GALT7 SUCLA2 EIF2B4 NARS2 KIFBP SURF1 SLC22A5 SUOX AMMECR1 COG7 DNM2 SPTAN1 CNKSR2 GABRB3 STAG1 COL1A2 DPM2 PNPLA8 PWAR1 ADAM22 GBE1 RRM2B FGFRL1 FUT8 DPYD PHKB TRNT1 ALDH18A1 PDP1 NRAS PNPT1 CDKL5 MTM1 DYRK1A UFM1 TRAK1 PPP3CA KANSL1 ATP5F1A PIEZO2 PHKG2 SHOC2 KIF1A HSD17B10 DCHS1 MORC2 TRIP12 MPV17 IGF2 AGK RARS2 SNIP1 CACNA1C GABRA2 CLIP1 USP7 MYMK ZC4H2 TSEN2 PEX1 SFXN4 CTCF ATCAY SOX2 UNC80 MLYCD AP3D1 PIGN LARS1 FBXO31 MBOAT7 PRUNE1 RERE COG1 OGDH NDN CTU2 LRPPRC TRAPPC6B SZT2 HNRNPH2 VPS33B NDUFB9 UBR1 CEP290 EXT2 DHX30 C2CD3 RAI1 CNTNAP1 STAMBP BMP1 HERC1 GLRX5 SLC25A4 PPA2 COQ9 CUX1 PNKP TECPR2 EDN1 HNRNPK KPTN ALG14 POMGNT2 MED12 TBC1D23 RBM10 VLDLR RPL10 PRF1 SLC52A2 SDHAF1 GABRG2 TUBA1A GTPBP2 MMAA SGPL1 B4GALT1 CEP120 CLCN7 MCCC1 NDUFAF5 NSD2 ALAD NDUFS8 SDHA ATP7A TXN2 LNPK NECAP1 MTOR KCNQ5 ISCA2 LYRM7 CASR GDI1 ST3GAL5 PEX13 COA3 TCF20 TMEM70 ZBTB18 LRP5 WNK1 SLC25A46 VDR PRSS12 ERCC6 MED13L AUTS2 AP3B2 SMS YWHAG CLP1 NAA10 DNM1L TRRAP RAB11B SBDS DDR2 PRODH NFIA RSRC1 ASH1L SCO2 ALG2 EMC1 CCDC115 DPM1 ZEB2 SLC35A1 GAA TOR1A TARS1 B3GAT3 ELN MTMR14 SYNGAP1 SON TCTN2 SLC25A24 SMPD1 COX15 ATP6V1E1 CSNK2A1 NDUFA10 TMEM67 TTN TUSC3 EFEMP2 GPT2 DAG1 AIMP1 SUFU ASCC1 PIGS DNAJC12 COX20 GPHN HPRT1 SOX5 EDC3 NGLY1 SPECC1L CCDC22 IARS1 PEX3 PCBD1 ARFGEF2 ACACA HCN1 DOCK6 B9D1 TRMT10C GPC3 ACADM MFSD2A SMARCC2 DEAF1 LIFR ACO2 SHANK3 SCO1 TRIP4 TRMT1 PTCHD1 ARID1A ALDH7A1 SLC46A1 DLG3 DHTKD1 PEX19 CHST14 MPI CRADD CTNNA2 ELAC2 MT-TE CSF1R LINS1 SMG9 ARV1 SETD2 PLEKHG2 PET100 INPP5K PTEN DBT GTF2H5 CHD4 HADH RFT1 MYPN SLC25A20 GNAO1 KLHL41 COL2A1 ZNF148 LMOD3 LONP1 NPAP1 SNX14 SGCE CNOT1 TP53RK GABRB1 LAMA2 P4HTM SPRED1 VARS2 CHRND GTF2E2 NALCN AGTPBP1 GCSH CTNNB1 FARSB NPC2 HDAC8 ASXL1 GPAA1 PTRH2 SLC2A10 COQ7 MLXIPL FARS2 PIGC GNAI3 TRAF7 UGDH PAK1 CAMK2A SARS1 MAP3K20 PMPCB PRKCG PRMT7 PREPL YME1L1 ACTA1 ASXL3 EXOSC3 CC2D1A KMT2C WAC CHAT POMT2 EIF2B2 REPS1 PNP MT-TN HERC2 TCF4 EZR NDUFB3 RMND1 PUM1 NDUFAF4 NDUFAF2 ADNP NSUN2 CUL4B CEP104 TMEM216 CHST3 TWNK GNE GRIN2D MPZ FAM149B1 ATP6V0A2 CLCN4 SC5D ACADS SLC13A3 GRIK2 KIF22 BMPER NUP214 GM2A MMAB KBTBD13 ALDH5A1 DHCR7 OPHN1 PMPCA RORA NRXN1 FOXP1 D2HGDH BMPR1A EHMT1 DNAJC21 KIAA0753 AHI1 ATAD3A PRPS1 VPS13B ATXN10 VIPAS39 MKRN3 SRP54 BRPF1 EBF3 ABCD4 MPDU1 CAMK2G TH PIK3CA TIMMDC1 SET SLC1A3 MARS2 FIG4 FBXL4 GABRB2 HNMT MAPRE2 METTL23 WASHC4 NAXE SLC5A7 AP1S1 ACADVL SCN9A ZIC1 EFNB1 GMPPA IQSEC2 MITF PRX SLC35A2 PEX16 SARS2 TECR TELO2 SKI BTD SLC25A42 AMPD1 MAMLD1 PEX14 BSND PGM3 ARID2 FDX2 HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY TRIM32 PLEC BMS1 GMPPB GLE1 SLC39A14 LRP4 COL13A1 SGCD KLHL41 KARS1 CAPN3 SH3TC2 ACTA1 TCIRG1 CLCN4 VAMP1 HNRNPA1 SUCLA2 PRRX1 NEB SDHB TRPV4 SDHAF2 NARS2 VHL MYMK ALG2 GDF6 FTSJ1 NF1 TGFBR3 SIX5 ADCY6 EGR2 SOST UPF3B RRM2B UGT1A1 TK2 AMER1 NF2 SIX1 ABCA1 CHRNB1 RAB39B HCFC1 SLC52A3 TUBB3 LMOD3 SALL4 CHRND NOD2 CHD7 ARHGEF6 PEX26 ANO5 MYPN PIK3CA DNA2 TNFRSF11A TPM3 CHRNA1 TPM2 SDHD GFPT1 CXorf56 RYR1 POLG2 AGRN GDF3 AK9 MEGF10 SLC5A7 SPEG SDHC FH SEMA3E TNFSF11 COL3A1 LRP5 COLQ PRNP ARX AKT1 PEX3 COL6A2 BTNL2 GAN IL1RAPL1 HRAS TFAP2A SCN4A RAPSN CA2 POLG SLC12A6 ZC4H2 OTX2 GJC2 PABPN1 FKRP GJA1 MUSK CLCF1 CHRNE COL6A3 SDHA PEX1 CNTNAP1 PEX13 EYA1 CNKSR2 RPS6KA3 MID2 LRP12 DCTN1 CRPPA CLCN7 MYH7 FGF3 SELENON LAMA2 BIN1 YME1L1 EPAS1 CDH23 PTDSS1 COL4A1 DMPK DOK7 CHN1 PDGFB SLC25A11 SLC18A3 SNX10 TSPAN7 MTMR2 POMT2 MECP2 TRAF7 PEX2 SUFU SCO2 SLC25A4 COL12A1 ANKH GNE REV3L PEX16 THSD1 SPTBN4 ALG14 PEX11B HNRNPA2B1 ADSS1 COCH PTCHD1 ACSL4 MYO9A PEX5 TTN BAP1 CRYAB TWNK RET SLC52A2 TERT SMO DLST NEFL PLXND1 PEX12 ACADS SNAP25 DPAGT1 CHCHD10 DLL4 USP27X ADA2 KBTBD13 PEX6 SQSTM1 VCP HOXB1 PLEKHM1 OSMR MAFB SLC29A3 ITGB4 KLHL40 ALG13 ASAH1 KY MGME1 AGTR2 CHKB PEX19 IQSEC2 DKK1 FRG1 PAK3 SMARCB1 COL6A1 CRLF1 SLC25A1 TMEM127 ZNF41 MEN1 DNAJB6 MDH2 GSN FRMPD4 DNMT3A ZNF711 SMCHD1 ENG DLG3 FKTN POMT1 DNM2 CHAT SYP PEX10 PEX14 LARGE1 PRKAR1A GDI1 DMD DES TGFB1 SLC9A7 MAX MEOX1 KIF1B CFL2 AIP HLA-DRB1 ANGPTL6 GNAQ PYROXD1 MPZ SMARCE1 C12orf65 USP9X SYT2 LAMB2 MED12 UBA1 TUBB6 BAG3 MTM1 PUF60 ZNF81 MTMR14 HP_CRANIAL_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_NERVE_COMPRESSION EPAS1 MDH2 RET COL4A1 SDHD DNMT3A PLEKHM1 TNFSF11 CA2 TCIRG1 HNRNPA1 SLC25A11 TNFRSF11A SNX10 DLST SDHB SDHAF2 CLCN7 VHL DKK1 NF1 SDHA SDHC FH VCP TGFB1 MAX SOST KIF1B TMEM127 HNRNPA2B1 HP_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE TANGO2 JAG1 SMARCAL1 LIMK1 MMUT RFC2 VHL TREX1 PCNT ENG JAK2 TTR CCM2 MT-CO2 MT-CO1 MT-TF GTF2I KRAS CPS1 GDF2 SMAD3 TET2 MT-TW ABCC6 MFAP5 TGFBR3 APP ELN ADA2 OTC LMNA LOX FLNA GATA6 CLIP2 XYLT1 PNP THPO GNAQ SH2B3 MT-TC GYS1 F2 SCN5A GATA4 TGFB3 SNAP29 HBB GLA SMAD4 NPPA MT-TS2 COL4A1 ACVRL1 MT-TK MT-TL1 MT-ND1 MT-ND4 TNNT2 KCNQ1 FBN1 AGXT COL3A1 TGFBR1 MYPN TGFB2 ALOX5AP PRNP MT-CO3 MT-TQ MT-ND5 RFT1 TP53 XYLT2 MYH11 MPL CALR MYBPC3 MECP2 MT-ND6 CST3 MT-CYB ACTA2 MYD88 F5 MT-TV SLC2A10 PRKG1 MLXIPL GUCY1A1 HTRA1 TBL2 MTHFR PRKCH PRKAG2 NR3C1 SLC19A2 PIK3C2A NR2F2 ZAP70 TGFBR2 WFS1 MYLK NOTCH3 TPP2 KIF20A CBS BAZ1B ANGPTL6 TNXB MAT2A ZMPSTE24 ASS1 CYP11B1 TNNI3 ACAD9 STIM1 HSD11B2 DYRK1B PMM2 FLNC GTF2IRD1 SON ACTG1 FOXE3 THSD1 NOS3 ACTB MT-TH NAGS PIGA DPM3 CRELD1 HP_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOPATHY CHEK2 DNM1 ASNS KMT2E NDUFAF5 CHD2 GLUL SYNJ1 SUCLA2 ATP6V1A SCN3A AMACR RANBP2 SLC25A13 SLC13A5 MT-CO1 SLC22A5 TSFM SCN8A MT-ND2 ACTL6B RNASEH2C SLC6A9 NUS1 SPTAN1 CLP1 MT-TF CNKSR2 NADK2 TREX1 PARS2 GABRB3 DPM2 MT-ND3 SLC1A2 PCCB GRIN1 ARV1 ADAM22 CPLX1 NDUFAF1 NDUFV2 BOLA3 GPR35 GCDH KCNT1 TRAK1 MT-TC COG8 NEUROD2 ATP1A3 HADH PNPT1 CDKL5 MEF2C COQ2 WWOX ACY1 DHDDS MT-TK MT-TL1 MT-ND1 MT-ND4 HNRNPU PPP3CA NDUFS3 TUFM CNPY3 BSCL2 SCN1A ATP5F1A CAD HIBCH EEF1A2 SIK1 SERPINI1 CYC1 NTRK2 NAXD WDR45 TCF4 MT-CO3 MT-TQ KCNB1 GABRB1 FADD HCN1 DENND5A SLC25A1 GABRA2 GBA NDUFB11 NDUFS1 GCSH PIGP ALG9 CACNA1A MDH2 NECAP1 DLD TBCD RNASEH2B NRXN1 MT-CYB PCCA MT-TV LIPT2 CUX2 TIMMDC1 NDUFAF8 NDUFB10 CACNA1B HTRA1 TRAPPC12 TIMM50 UNC80 SERAC1 COQ4 UGDH AP2M1 PIGA KCNQ2 SLC25A20 FCSK ATP5F1D MST1 PMPCB NDUFS6 FOXRED1 GLDC NBAS SZT2 NDUFA11 XIAP KYNU MT-TS2 CYFIP2 GALC NDUFS4 NDUFAF4 DOCK7 MDM2 SLC19A3 PNPO CPT2 ACAD9 COQ9 AP3B2 PNKP GRIN2D CLPB NDUFB3 SLC12A3 STAG1 STXBP1 MT-TH NDUFS8 NAGS NDUFAF3 LIAS FGF12 TMEM126B NDUFAF2 GLYCTK TBC1D24 MECP2 ETHE1 CCDC88A SCN2A GABRG2 CPT1A CLCN4 MT-CO2 RNF13 GABRA1 MT-TW GABRB2 SLC6A1 SLC2A1 SLC25A22 CLTC TGFB1 DGUOK ARHGEF9 ITPA ROGDI ATAD1 CLCNKB TK2 CACNA2D2 CACNA1E ZNHIT3 KCNQ5 NDUFA6 LYRM7 SLC25A15 FBLN1 D2HGDH PRNP TBCE TMEM70 TSEN54 AARS1 IBA57 UBA5 SUCLG1 NDUFS2 STAT2 NDUFV1 GUF1 GNAO1 TBCK PACS2 PCK1 ACSF3 CARS2 YWHAG CDKN2A SH2D1A TWNK GLS DNM1L MT-ND5 NDUFA1 ARX PLCB1 MPC1 MT-ND6 TP53 TH SLC35A1 KCNA2 HMGCL SYNGAP1 FBXL4 CNTNAP2 KCNT2 COX15 NAXE BCS1L GPT2 FRRS1L GRIN2B NDUFB9 ST3GAL3 SLC35A2 PSAP GABRA5 UGT1A1 SCN1B MAPK10 SLC25A12 AMT NDUFS7 GABBR2 TRIT1 PHACTR1 NUBPL HP_PARKINSONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM MAPT PDGFRB TARDBP PANK2 AP5Z1 DNAJC13 VPS35 ATP13A2 PLA2G6 SNCA CHCHD10 FMR1 EIF4G1 XPR1 TOMM40 GBA ATXN3 PSEN1 ADH1C MYORG VCP PDE10A PDGFB SNCAIP SORL1 LRRK2 TREM2 ATXN2 PLAU GCH1 TBK1 UBTF APOE PINK1 VPS13C TBP COASY ATXN8OS PRKAR1B FUS TH MECP2 SLC18A2 C19orf12 CP PPP2R2B CHMP2B NOS3 SLC6A3 NR4A2 MPO APP A2M VPS13A DNAJC5 SLC39A14 ATP1A3 STXBP1 GIGYF2 WDR45 C9orf72 JPH3 COQ2 PRNP RAB39B DNAJC6 GABRA1 PSEN2 PCDH19 POLG PTS DCTN1 CAT ABCA7 TRPM7 PARK7 SNCB HTRA2 FBXO7 PRKRA SLC20A2 SLC30A10 SCN9A KIF5A GRN ATP6AP2 FTL TWNK TK2 GABRG2 SQSTM1 AFG3L2 DNAJC12 TMEM240 TAF1 TMEM106B SCN1A SYNJ1 JAM2 HFE CLN3 SCN2A SCN1B GLUD2 PRKN HP_TORSION_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSION_DYSTONIA ADAR PRRT2 THAP1 SLC2A1 HPCA TOR1A TUBB4A TAF1 HP_TONGUE_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_FASCICULATIONS SMN2 OPTN TBCD EXOSC3 SLC52A2 SH3TC2 SMN1 VCP KCNK9 NOP56 SLC25A21 UBA1 ASAH1 RMND1 SLC52A3 TSPYL1 FXR1 AGTPBP1 AIFM1 ADPRS HP_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIA MSTO1 VLDLR MRE11 PDGFRB RARS1 CAMTA1 LIMK1 RFC2 MARS2 TTC19 GRM1 CLN5 FMR1 ATXN10 TPP1 GTPBP2 ATG5 GBA2 MYORG PDGFB GTF2I PRICKLE1 PRKCG DEGS1 PEX2 POLR3B GJC2 SPTBN2 VWA3B POLR3A PLD3 MAG ELN KIF1A TOP3A PNPLA8 SACS ATXN2 CRAT PMPCA CACNA2D2 CLIP2 PDYN LNPK WASHC5 OPHN1 SCN8A CAV1 ADGRG1 TMEM106B PIK3R5 CACNA1G B4GALNT1 SQSTM1 SLC25A46 PPP2R2B NOP56 NEU1 TGM6 KIF1C WARS2 ANO10 LAGE3 XRCC1 POLG ITPR1 TTPA EBF3 HIBCH ADPRS IRF2BPL SAMD9L ATP6AP2 RRM2B XRCC4 TIMMDC1 UCHL1 CTDP1 SFXN4 GPAA1 ATXN7 NFASC STUB1 PTRH2 TCTN2 ACOX2 PRNP SPART KCNC3 SLC20A2 AFG3L2 RNASEH1 DAB1 TBL2 ERMARD FXN OPA1 ATP1A3 FA2H CCDC88C PEX16 PMPCB ATN1 ATXN1 BRAT1 YME1L1 IFRD1 RFC1 COA7 BAZ1B SLC9A1 NGLY1 GRID2 CAPN1 GJB1 CYP7B1 ABHD12 PLP1 SYNE1 REPS1 TBP AP5Z1 CWF19L1 PLA2G6 TECPR2 GTF2IRD1 PUM1 ABCB7 NDUFAF2 WDR81 HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY GNB1 CTBP1 SLC12A6 PHF6 CHD2 SYNJ1 LMAN2L PMP22 KCNAB2 ARHGAP31 SLC13A5 DAOA ARHGEF10 SAMD12 SCN8A NEFL ERCC3 GABRG2 SACS TPI1 NLGN3 MAPT SETBP1 EGR2 SLC1A2 SLC2A1 TYMP ERMARD PAX6 PEX1 CHMP2B WWOX DHDDS DHPS MT-ND4 PRRT2 CNPY3 NUP133 APOL2 GABRD ALDH7A1 IREB2 EEF1A2 ARX ZC3H14 RAI1 SLC35A2 KCNH1 PIGQ MARCHF6 PDSS2 PEX12 PEX10 NUP107 CUX2 CACNA1B POMGNT1 TRAPPC12 KMT2D TIMM50 BRAF YWHAG NALCN FLCN ARSA IGHMBP2 TRAPPC9 ROGDI CILK1 TPP1 ABCC8 MED23 OPA1 NTNG1 MFSD8 ABHD12 MTMR2 TRAPPC11 OCRL EBP NEXMIF FAM126A SCN1B JPH1 HSD17B4 KCNB1 LETM1 SLC2A3 REEP1 PIGY SH2B1 MECP2 PSAP SPTAN1 NTRK2 AGRN CLN5 ERCC6 GRIN2B EP300 CLTC TGFB1 SUMF1 ALG13 SCN1A B3GALNT2 DEAF1 COMT GALC GABRA1 CACNB4 PIGP FRRS1L GJC2 UBA5 KDM5B NOTCH1 GNAO1 PCK1 RETREG1 PLA2G6 CARS2 PGAP1 CPLX1 CEP126 CREBBP MAN1B1 SLC25A1 PARS2 IQSEC1 FKTN UNC93B1 MT-ND6 GARS1 HMGCL DDB2 LARS2 BCS1L SCN9A KCNA1 KCNMA1 MPZ MYH3 PEX13 SLC18A3 CCT5 SBF2 HECW2 SOX10 SRPX2 SIGMAR1 PIGT ST3GAL3 FGF12 RPL10 IQSEC2 TREM2 SCN2A TIMM8A CRBN FBLN5 KCNA2 ERCC4 FLVCR1 ITGB6 FBXO38 MT-TL1 GABBR2 PEX16 TRIT1 C9orf72 DNM1 ASNS DRD3 SH3TC2 SCN3A ATXN10 STXBP1 SLC1A4 GDAP1 NGLY1 POLG NUP188 MT-TF ERCC5 TBC1D24 SPATA5 PRDM16 VAMP2 NEUROD2 TBCK CLCN2 MT-ND1 HNRNPU DCAF8 SLC45A1 MTHFR SBF1 PEX11B COQ2 SLC39A8 PIGG RAB7A PNPT1 PEX19 CACNA1A FIG4 NFASC UBE3A PPT1 AFG3L2 MED17 SIK1 FXN PIGW MYH14 NEU1 POMT1 HCFC1 MFN2 PEX2 MT-TS2 PAFAH1B1 CYFIP2 DOCK7 TRAF3 GJB1 AP1S2 C12orf4 GMPPB UBTF GRIN2D ERCC1 CPT1C GLYCTK PDK3 TBK1 TNIK TET3 IDUA VCP ALG3 YWHAE SLC6A1 SLC25A22 MAP2K2 FMN2 PRICKLE1 GRIN2A CACNA1E ZNHIT3 PTS RTTN INS YEATS2 MPV17 KCNQ3 PIGO SNAP29 PIGL SQSTM1 SLC25A15 DHH CNTNAP2 FLII TUBB2A PNKP NDST1 PRPS1 NDUFA9 PRNP KCNT2 EOGT CHAT HIC1 TMEM106B SNRPN NACC1 OTOF UPB1 GABRA5 ATXN1 CNTN2 IARS2 PLPBP CUL4B POMT2 SETD2 LAGE3 PLAA PHACTR1 SMS EFHC1 CCDC47 DYNC1H1 CDKL5 NLGN4X KCNJ11 NOTCH3 LTBP3 NUS1 LRSAM1 CNKSR2 SLC6A19 DPM2 MED13L PSEN1 ADGRV1 FGFRL1 WDR4 JRK DNM2 ALG2 TRAK1 XPC PPP3CA AIFM1 NDUFAF8 ERCC8 SLC5A7 GUF1 PEX6 KIF1A HRAS MT-TQ MCOLN1 SNIP1 DENND5A GABRA2 HK1 CLIP1 TLR3 MYD88 COL13A1 DOCK6 NF1 LIPT2 MT-CO3 NRAS STRADA GRN NTNG2 AP3D1 FBXO31 GFM2 DLL4 MED25 GCK MBOAT7 KRAS SKI SZT2 RBPJ KCTD7 LMNA MT-TH PIGV HSPB1 MYO9A PEX14 TFG DMXL2 C12orf65 KCNQ2 SNAP25 BSCL2 GABRB2 FOXP1 PLEKHG5 NSD2 ACOX1 HTR2A NECAP1 CLN6 ST3GAL5 AARS1 WNK1 PRSS12 PEX5 OSGEP AP3B2 SYT1 NECTIN1 EPM2A CSTB MT-CO1 NDRG1 MT-ND5 PRODH RSRC1 DPM1 EPG5 PCDH19 SYNGAP1 MFF EDNRB RMRP ARG1 WDR45 NSD1 TUSC3 ERCC2 AIMP1 MT-CO2 CLCN4 AHDC1 EDC3 DOLK ARFGEF2 HCN1 SYT2 RTN4R ASAH1 PGAP2 ATP1A2 AARS2 VAMP1 ADRA2B ATP6V1A TRPV4 ABCA5 CHI3L1 CRADD LSS CTNNA2 ACTL6B ALG11 LINS1 DIAPH3 EMC1 MATR3 ASL PHGDH CACNA1H HTT RRM2B CTDP1 HIBCH PLCB1 PEX26 GRIN1 GABRB1 P4HTM EIF2S3 CLN8 CASK SUCLA2 AIMP2 RERE DCPS NRXN1 GPAA1 RUSC2 CYP27A1 FARS2 PIGC UGDH APC2 STARD7 AP2M1 PIGA TPRKB MORC2 SARS1 SPG21 GLUD1 FKRP SYN2 MAP2K1 CC2D1A NOTCH2NLC NDP TRIM8 PNPO IER3IP1 CTNND2 EZR PSAT1 APOL4 SYNE1 MAF TYROBP NSUN2 CCDC88A TICAM1 FGD4 GRIK2 XPA SCARB2 DEGS1 FBN1 ARHGEF9 ALDH5A1 UNC80 ATAD1 POGZ ANTXR1 PRX NHLRC1 LARGE1 ARV1 LAMC3 FOXG1 ANKRD11 MT-TW GABRB3 WDR73 CLTCL1 SIM1 SAMD9L PDX1 TP53RK CPLANE1 LITAF KIF1B HNMT NLRP3 METTL23 WASHC4 STX1B AHSG PEX3 TUBGCP2 SETX STUB1 LYST HSPB8 TECR MAPK10 KPTN KDM6A PGAP3 HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS EPM2A SAMD12 MARCHF6 STARD7 NHLRC1 HP_REDUCED_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_TENDON_REFLEXES NEB ELP1 FMR1 PMP22 GNB4 ERLIN1 FHL1 SLC13A5 RUBCN XPA OTOG LGI4 NEFL MAG ADCY6 CD59 SACS EGR2 MED25 ATM OPA3 SCN8A TERT PEX1 TUBA8 WWOX TRPV4 MT-ATP8 TPM2 LAMA2 AK9 MEGF10 LMNA VPS13A TWNK COLQ GAN TTPA PNPLA6 RNF113A RAI1 ATP6AP2 MT-TT HSPB1 GNAS MT-TW PEX10 CACNA1B SELENON ALDH18A1 ERCC2 DYSF EXOSC9 LRP12 ARSA SQSTM1 DMD PLP1 MME PEX12 TRAPPC11 IGHMBP2 LYST MTPAP PNKP RFC1 GEMIN4 DOCK3 COA7 ARHGEF2 TAF1 GMPPB ABHD12 LDB3 OCRL ZSWIM6 DGUOK ADSS1 JPH1 EEF1A2 KCNB1 GNE MYH14 ACAT1 PMM2 MT-ND5 DPM3 MRE11 TARDBP DNMT1 PSAP AGRN POLG ACTA1 PPP2R5D PEX2 AIFM1 CLTC EXTL3 DEAF1 SLC25A19 CHMP2B FKTN PEX5 KLC2 PEX11B CRPPA C19orf12 PIK3R5 ERCC3 TRMT5 MCM3AP UBA5 TBCK DKK1 RETREG1 PLA2G6 SLC25A1 PARS2 ACADM TBC1D24 RRM2B FLNC HMGCL KCNK9 DDB2 HSPB8 HINT1 MT-TL1 ERCC6 MT-ND3 MPZ PEX13 SLC18A3 CHRND SMN1 SBF2 SOX10 MT-ND6 RYR1 SIGMAR1 AR PIGN FGF12 LAMB2 TPM3 FBLN5 GFPT1 GJB1 KCNA2 ERCC4 FLVCR1 DNM1L FBXO38 TRIM32 DNM1 KLHL41 SNAP29 KARS1 CHCHD10 SCN3A NGLY1 PEX16 BEAN1 TGFB3 ERCC5 CLCNKA QRICH1 SYNE1 FUS MYOT ERCC1 B4GALNT1 POMGNT2 MSTO1 HARS1 ATP1A1 IBA57 MYF6 MFN2 DCAF8 SBF1 MT-ND1 PIGG XRCC1 FKRP RAB7A PNPT1 VAMP1 TRIM2 PEX19 COASY FIG4 OPA1 SLC12A6 TCAP MYL1 GJB2 NFASC MUSK FXN TRMU CNTNAP1 PLEKHG4 TPI1 BIN1 LIFR GLDC POLG2 TMEM240 CYFIP2 NDUFS4 BICD2 CLCNKB GDAP1 SCN9A COL12A1 POMT1 CHRNA1 RNF170 REEP1 PDK3 JAG1 KIAA0586 SAR1B VCP RTEL1 TBK1 SPEG MYH7 CHRNB1 MPV17 PRPS1 PIGO DKC1 KY PIGL SPG11 PGM3 ALG1 DHH CNTNAP2 FLII MYL2 ATXN2 NDUFA9 MT-ND4 CHAT TRIM37 FLRT1 ELOVL4 PDXK PIGW MT-TK PEX7 POMT2 TBCD MT-TV GABRA5 PARN ATXN1 IARS2 C12orf65 SYNJ1 TDP1 APOB HSPG2 AMT PNPLA2 KCND3 AARS1 DNAJB2 UBA1 BAG3 SETX SNX14 GLE1 PIGY DYNC1H1 CFL2 MPLKIP POMK SUCLA2 LPIN1 FBN1 NARS2 PLEKHG5 KLHL9 COG7 DNM2 LARGE1 LRSAM1 CNKSR2 SLC1A2 GBE1 SYNE2 LRP4 DBH TRAK1 XPC HSPB3 VAPB SLC5A7 PEX6 HRAS WARS1 MORC2 SNIP1 GABRA2 HK1 SCN4A COL13A1 ZC4H2 NRAS CHRNE DNAJC6 DES KIF1A APTX KRAS IQSEC2 SZT2 ATL3 DST GALC PODXL TSPYL1 PLEC SLC25A4 HNRNPDL TECPR2 SPTBN4 ALG14 PIGV TBC1D23 C9orf72 CACNA1A NAGLU DARS2 MYO9A PEX14 SEPTIN9 SLC52A2 INPP5K SIL1 GABRG2 SNAP25 CRYAB DPAGT1 TMEM43 ORAI1 GRIA3 NECAP1 XK ST3GAL5 VANGL1 INF2 GFER STIM1 WNK1 SLC25A46 MTM1 MGME1 SCYL1 CNTN1 ENTPD1 RXYLT1 YWHAG TYMP NDRG1 ARSI ACD EMC1 SLC35A1 GAA TARS1 CARS2 MTMR14 ATP7A STX16 SMPD1 RMRP ATP1A3 TK2 TTN B4GAT1 CPT1A ALG6 ASCC1 DHDDS KCNJ18 PDSS1 DNAJC3 HCN1 SYT2 HADHB SLC25A21 SYNGAP1 PGAP2 ACO2 SHANK3 TRIP4 ATXN3 SURF1 ACTL6B ALG2 SMN2 MT-TE HADHA ATP6V1A ABCA1 GTF2H5 LMOD3 PHYH MYPN HSD17B4 NTRK2 PEX26 CDK5 PRNP GTF2E2 PITX3 GCSH MDH2 RAPSN FUZ NRXN1 PTRH2 RNASEH1 MT-ATP6 GRIN2A MARS1 POMGNT1 UGDH PRKCG ATN1 COX6A1 DOK7 GJB6 GARS1 ABHD5 HACD1 GOSR2 ITGA7 SCO2 AP3B2 RMND1 STXBP1 NUS1 VPS33A PEX3 GRIN2D TTR FGD4 EMD FLI1 CACNA1S KBTBD13 ALDH5A1 DNASE1L3 PMPCA PIEZO2 PRX NDUFA1 COL4A1 PTF1A NEFH STAC3 ARV1 ACER3 ASAH1 ATXN10 SCYL2 PPP3CA GABRB2 LITAF KIF1B ARL6IP1 DAG1 MT-ND2 MTTP IFRD1 FKBP10 B3GALNT2 TFG PYROXD1 MAP3K20 PGAP3 BSND TINF2 FXR1 GABRA3 WDR81 FDX2 HP_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOTONIA NALCN SHANK3 KLHL41 CAMTA1 PRDM5 SLC6A8 ACTA1 POMK COL6A2 TSFM LYRM4 TGFB3 NEB EGR2 NADK2 ARID1B SCN4A PWAR1 LMOD3 NSD1 CASK CHRND TBCK HADH TUBA8 ALG11 CHRNA1 ATP2B3 TUFM RYR1 BPTF AP4E1 MEGF10 EEF1A2 ADNP NPAP1 CCDC174 VMA21 TMCO1 FIG4 ACOX1 KAT6A MRPS16 MT-TT SLC12A6 ZNF469 PEX1 FGFR1 COL6A3 MAG PCLO COQ4 PURA COL6A1 UQCC2 H1-4 SDHAF1 CRPPA NDN TBR1 LAMA2 BIN1 SELENON DST GNPTAB OCRL EARS2 HERC2 IER3IP1 HSD17B4 MAGEL2 CLPB MYH7 FKRP SNORD115-1 FLNA PEX6 AP4B1 GLYCTK PEX3 CCDC88A PSMD12 SYT1 NONO HNF1A PPP2R5D PEX2 RAPSN SUMF1 GATAD2B PDE4D UNC80 SNRPN PIEZO2 CHRNB1 COL12A1 AP4M1 BCS1L SH2B1 BRAF PEX26 NFIX TPM2 PEX12 PRPS1 TAF6 TMEM260 PDHX CNTN1 DMPK PDSS2 HNF4A CHKB VPS13B FOXG1 GRIA4 NKX6-2 GLS MKRN3 ITGA7 TPM3 SDHA NEXMIF VPS53 SDHD PLOD1 ERCC6L2 PEX10 GOT2 SNORD116-1 KCNK9 TNNT1 ATXN7 MED12 FKTN DNAJC19 POMT1 GATA6 CPT2 TBC1D24 SOX10 VAC14 PWRN1 CFL2 USP7 MT-TE PEX16 COG4 SLC25A22 CHRNE UPB1 PYROXD1 MUSK PGAP1 ARX DLAT SPATA5 FXR1 SLC16A2 HP_CEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HYPOPLASIA OXR1 ACD ASNS CAMTA1 THOC2 PHGDH MARS2 RTTN FRMD4A POMT1 B4GAT1 TERT IFT80 CTNNA2 RAB3GAP1 FKRP DMXL2 FGFR2 MAPK8IP3 MYO5A POLR3A SASS6 LARGE1 POLA1 CSF1R COASY SIX3 DPM2 HERC1 GMPPB GLI3 TUBB3 KIF14 CHMP1A CENPE CACNA1G POMGNT2 WDR35 FKTN ATP2B3 PIEZO2 WDR26 PAFAH1B1 PIGG ABAT SNX14 HDAC6 TP53RK CDK5 PI4KA RARS2 FIG4 SLC25A1 USP18 TRMT10A POMK GPSM2 CEP120 TSEN2 GPAA1 GJB2 DHFR OCLN ATCAY MLXIPL RBBP8 POMGNT1 WDR60 TINF2 AFG3L2 SMARCB1 PCLO COQ4 CASK WNT1 MBTPS2 PIGA KIAA0586 VRK1 TSEN54 LAMB1 FGFR1 YME1L1 BRF1 ATP6V0A2 ASPM TAF1 GJB6 CENPF TOE1 C2CD3 POMT2 CWF19L1 IER3IP1 STUB1 RHOBTB2 PMM2 NONO TRAPPC9 TUBB2B ERCC1 RBM10 MSTO1 VLDLR RPL10 RAC1 CEP104 ATP6V1A INPP5K SIL1 COL3A1 ATG5 MACF1 TWIST1 BICD2 RTEL1 PPP1R15B MUSK RNF113A ROGDI OPHN1 PMPCA RORA NDUFA6 SLC25A19 COL4A1 CRPPA PTF1A ADGRG1 ROBO3 L1CAM ERF DISC1 B3GALNT2 DKC1 TUBB ERCC6 MGME1 FLNA NFIX TBCK TKFC VPS13B CEP55 ATP5F1A RXYLT1 STAG2 CDC42 TMEM107 PLG WDR34 ARSI MAST1 JAM3 EPG5 ITPR1 PACS1 TUBGCP6 ATXN2 MKS1 FLVCR2 CARS2 ZBTB11 ELN SLC1A3 SON TCTN2 SLC25A24 SMARCE1 AHCY PPP2R1A GPX4 DAG1 NDE1 MAP2K2 ERMARD DYNC2H1 DHX37 RBM8A RELN KIAA1109 TERC VAC14 PIGT ATP6V1E1 CSPP1 TSEN34 GPHN USP9X DYNC1H1 SLC35A2 CCDC22 PARN PGAP1 BMP4 PSAT1 KIAA0556 MAN1B1 TAPT1 BUB1B DOCK6 MAB21L1 MFSD2A EOMES CIT WDR81 HP_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_WEAKNESS GATM SGCD KCNJ1 TCIRG1 CLCN4 MTAP NEB POMGNT2 FKRP FMR1 PMP22 FHL1 SLC13A5 TSFM LMNA TIA1 CRPPA POLG NEFL PNPLA6 RRAS2 ADCY6 UBE3B CD59 SOST PON1 SACS TPI1 BOLA3 WASHC5 TK2 FGF23 EGR2 SIX1 LIPE SLC52A3 TYMP SALL4 FXYD2 TRIM32 CHD7 SCN8A CACNA1G ARHGEF6 GNA11 HLA-DRB1 DNA2 WWOX TRPV4 MT-ND4 CCR6 TPM2 LAMA2 CYP11B2 GFPT1 LGI4 NDUFS3 EXT1 POLG2 ATP7A IREB2 TRDN AGRN ANOS1 AK9 MEGF10 VPS13A NUP62 TNNT1 SIGMAR1 COLQ CASQ1 CCDC174 GJA1 ARX BCOR AKT1 MT-TK SDHB HLA-DQB1 SLC7A7 GAN TTPA NEK1 EGF IRF2BP2 ALAS2 TFAP2A SMCHD1 SEMA3E PIGQ CHST14 CLCNKB BSCL2 HSPB1 NKX2-1 COL6A1 REEP1 MT-TW CCDC78 MRAS MYH7 HNRNPA1 DHFR PFKM CACNA1B CHCHD10 C9orf72 POMGNT1 UNC13A SELENON DYSF ALDH18A1 GYG1 KIF5A SARDH TIMM50 COX8A CAPN3 PDE8B CASK KRT5 RPS6KA3 EXOSC9 LRP12 SLC25A20 PSMB8 VRK1 ARSA SQSTM1 CLCN7 DMD MME ATP5F1D TRAPPC11 DSE NDUFS6 IGHMBP2 DDHD2 RAI1 RFC1 GEMIN4 COA7 FLRT3 ORAI1 SCNN1A ERBB4 SGCG SLC18A3 KISS1R ABCC8 GMPPB TOE1 MYO9A MTMR2 LDB3 DGUOK TP53 ADSS1 SUFU AGPAT2 FAM126A JPH1 MICU1 EEF1A2 ANKH KCNB1 GNE MYH14 PMM2 MT-ND5 COL6A3 NDUFS8 SDHD NDUFAF3 NF2 ZFYVE26 TMEM126B HNRNPA2B1 CCNF DPM3 TARDBP RARS1 PSAP IRF5 TTC19 SGCA SNX10 ERCC6 SPG11 SMO COX6B1 ACTA1 DCC COX14 POU3F4 DLL4 AIFM1 CLTC KIF1A BAP1 EXTL3 SPG7 POMT1 MAP2K2 TREM2 SLC25A19 CHMP2B CHRNB1 PYGM STAT4 SLC34A1 HESX1 FKTN PEX5 PIGP ZFYVE27 PEX11B SIL1 C19orf12 PRKACA PIK3R5 SOD1 PLAA TRMT5 MCM3AP UBA5 CACNA1S NDUFS2 CAV3 NDUFV1 NEU1 DMPK AMPD1 BTD VCP PEX19 IQSEC2 DKK1 PLA2G6 GCK CEP126 GNAO1 SLC25A1 PARS2 ACADM HBB SCN4A ZNF41 LRP5 IRAK1 SOS1 TPM3 MYH2 DNAJB6 GSN MT-ND6 RRM2B MAPT GALC GARS1 FLNC PROKR2 SLC22A5 ASPA MT-TL1 KCNK9 ATXN7 ERLIN2 HSPB8 SPART C11orf95 SYP HINT1 BCS1L SLC4A1 RAF1 TANGO2 KCNA1 ABCA1 MT-ND3 MPZ MYH3 MYPN TGFB1 SLC9A7 CHRND SMN1 SLC12A1 SBF2 SOX10 NDUFB3 RYR1 PIGN FGF12 COL5A2 RIT1 ACAD9 CAVIN1 ANO5 FBLN5 TTN GJB1 LRP4 AP5Z1 KCNA2 NBN MT-TF ADA2 RTN2 FBXO38 POLR3A MED12 NDUFS7 GABBR2 TUBB6 DCTN1 CCN6 PLEC DNM1 COL13A1 KLHL41 OAT SNAP29 KARS1 SH3TC2 CHRNA1 COL6A2 SCN3A DAO STXBP1 NDUFB8 GBA2 SLC34A3 GDAP1 NGLY1 SARS1 A2ML1 TACO1 ABCB6 AMER1 COQ8A HCFC1 SYNE1 FUS MYOT KRT14 DMXL2 AP2S1 SLC18A2 MSTO1 TBCK ATP1A1 TSHR PIK3CA MYF6 MFN2 MT-ND1 DCAF8 HS6ST1 CHRNE KCNJ18 SBF1 MT-TE SLC39A8 LBR COL12A1 GLE1 COX10 PEX7 XRCC1 NACC1 PHKA1 SCN2A SPAST TNPO3 VMA21 ABCD1 PEX3 NAGA RAB7A BTNL2 TCN2 TRIM2 NDUFS1 ADPRS TRMT10A POMK PDCD1 FIG4 SLC12A6 TCAP MYL1 ZBTB16 ADAR COA8 MUSK AFG3L2 CLCF1 FXN HLA-B ACADL TRMU CNTNAP1 CNKSR2 TMEM165 NF1 SDHAF1 DDHD1 ANXA11 BIN1 PTPN22 HEXA TWNK GCH1 FLAD1 SETX MT-TS2 CYFIP2 NDUFS4 CAPN1 CYP7B1 CDC73 BICD2 TRAF7 REV3L NONO SLC12A3 PIGA PAX8 CPT1C PTCHD1 ACSL4 PDK3 STIM1 B4GALNT1 HARS1 TBK1 MT-TN HADHB MEN1 MT-TP HSPD1 TACR3 IL12B SPEG COL1A2 PTS SPARC NDUFA6 SLC33A1 INS LMOD3 UQCRFS1 HOXB1 L1CAM MPV17 TBCE PRPS1 MT-ATP6 ITGB4 KLHL40 DOK7 ALG13 KY AAAS KRAS FOXC2 PAK3 SMARCB1 DNAJC19 IBA57 TNFRSF11B DUSP6 NDUFA1 NDUFA11 DHH ITGA7 CASR CYP27B1 MYL2 FRMPD4 LZTR1 PNKP CHP1 NSMF PHKG2 PDE11A KCNE3 CHAT PEX10 HMBS ACY1 OPTN LARGE1 SPTA1 GPI POMT2 TBCD CACNA1A NDUFB9 PHKA2 NDUFA13 MT-TV GABRA5 SLC25A26 C12orf65 ATXN1 SMARCE1 KCNJ5 RRAS PLP1 CYP2R1 TDP1 HSPG2 ALS2 EXOSC8 PNPLA2 DNAJB2 SCN1B GBE1 UBA1 CCN2 FEZF1 BAG3 ZNF81 DSTYK PHACTR1 NUBPL BMS1 PFN1 SLC39A14 DYNC1H1 CFL2 SCN11A SUCLA2 CPOX LPIN1 NARS2 EPB42 GNAS LAMP2 PLEKHG5 STAT5B MT-ND2 KCNJ11 KLHL9 DNM2 SIX5 LRSAM1 RELA MLX DPM2 PNPLA8 SLC1A2 PRPH SYNE2 RAB39B PPARGC1A HAMP FGF8 PHKB LIMS2 PNPT1 SYNJ1 CLCN1 ELP2 PCNA TRAK1 HSPB3 VAPB NDUFV2 ERCC8 SLC5A7 TGM6 ALG14 PRNP DAG1 MT-TQ MORC2 AGK IL1RAPL1 RARS2 GABRA2 SCO2 NDUFB11 HK1 SLC25A22 ELOVL5 MYMK ZC4H2 TRPM7 AGL UFC1 TIMMDC1 GJC2 NDUFAF8 NDUFB10 PABPN1 MT-CO3 MTHFR DES NTNG2 PEX1 NOD2 NUMA1 MID2 PRKAR1A APTX FOXRED1 AR SLC25A4 ABHD5 UBQLN2 NDUFAF4 FOS CCDC141 TSPAN7 SPP1 ARMC5 TOR1AIP1 FARS2 TFG NPM1 HNRNPDL ANK1 PEX16 PPARG SOS2 SPTBN4 MT-TH XYLT2 OPA1 SGCB DARS2 MED25 SEPTIN9 SLC52A2 INPP5K GABRG2 GTPBP2 PEX12 SNAP25 CAV1 CRYAB DPAGT1 RNASEH1 FOXE1 EYA1 TMEM43 BVES ALAD NABP1 PNKD GRIA3 NECAP1 SZT2 XK LYRM7 NEFH PEX13 COA3 AARS1 INF2 MT-TL2 SLC25A46 VDR MGME1 CNTN1 PPOX CDKL5 CHKB RXYLT1 YWHAG MT-CO1 TBL1XR1 CLP1 CCND1 NDRG1 AMPD3 ALG2 CNNM2 GAA ZNF711 ETFDH MTMR14 SLC25A24 FKBP14 AHCY SMPD1 NDUFAF2 CFAP410 FGF17 LTBP4 NDUFA10 GDI1 ATP1A3 B4GAT1 MT-CO2 ASCC1 COX20 TNXB DHDDS GPHN NKX2-5 NIPA1 ATL1 COL1A1 NEUROD2 EPHA4 CYP11B1 HCN1 SYT2 SPRY4 LAMB2 SLC25A21 SYNGAP1 MTM1 AARS2 SLC26A4 SCO1 TRIP4 ATP13A2 NDUFAF5 VAMP1 SPTB PGM1 RANBP2 FGFR1 ACTL6B PGK1 FTSJ1 SMN2 TREX1 PON2 UPF3B TOP3A SURF1 HADHA VPS13D ATP6V1A FBN1 PET100 PML TUBB3 COG8 WDR11 PHYH SCNN1B MATR3 PEX26 COQ2 CXorf56 WARS2 ATXN3 IL17RD NTRK2 PEX6 POGLUT1 CPT2 PON3 MT-TI SFRP4 MDH2 RAPSN PTRH2 COQ7 GLT8D1 GRIN2A PCLO TRH MARS1 EXT2 RARA NRAS SPG21 MAP3K20 PMPCB PREPL YME1L1 COX6A1 PTDSS1 EXOSC3 PDGFB TAF15 NDP CBL FIP1L1 HACD1 ISCU TRIM8 ETFA ATXN2 MECP2 PEX2 AP3B2 CNBP FAM111B NUS1 ETFB TERT GRIN2D TTR PLXND1 ACADS YARS2 SDHA RBCK1 FGD4 EMD FLI1 PTEN USP27X PPP1R15B GM2A RASA2 ATP7B KBTBD13 HJV PIEZO2 SPR PRX COL4A1 D2HGDH STAC3 STAT3 YARS1 SCYL1 ARV1 ASAH1 AGTR2 FRG1 COL5A1 HEXB CRLF1 IFIH1 NOP56 EBF3 PROK2 COL9A3 PDX1 PTPN11 CYP27A1 CPLANE1 ABCA2 SPTLC2 NDUFAF1 PPP3CA DLG3 GABRB2 LITAF KIF1B ANG SIK1 PEX14 ACADVL FA2H PRRT2 PUS1 IFRD1 SEMA3A LYST B3GALNT2 PYROXD1 SKI FLVCR1 USP9X SCNN1G NFU1 PUF60 FXR1 GABRA3 FDX2 HP_HYPOGLYCEMIC_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_COMA STAR MRAP MC2R NNT GLUD1 ETFDH ETFB HMGCL HADH INSR NFKB2 SLC16A1 ABCC8 AKT2 ETFA GCK TXNRD2 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 TBC1D24 CPLX1 GABRG2 GRIN2A SAMD12 SRPX2 STARD7 HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE SCN9A GABRA1 KCTD7 SCN2A GABRG2 PCDH19 SCN1B STXBP1 SCN1A HP_SPECIFIC_LEARNING_DISABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPECIFIC_LEARNING_DISABILITY C9orf72 MSX1 PIGH CHCHD10 PNKP HNRNPA1 TSC2 SC5D KAT6B NTN1 CHMP2B TERT TCF4 MYO5A ARL6 LARGE1 MT-TF UBE3B GABRG2 CCDC28B PWAR1 COX7B SLC2A1 MED13L FUS TUBB3 TSC1 PLA2G6 FZD2 OPA3 KIFBP POMGNT2 ORC6 HCCS DNAL4 COQ2 CACNA1H MT-ND1 MT-ND4 SPG11 SMARCA2 BPTF RREB1 LAS1L ALDH18A1 DGCR8 YY1AP1 HMGA2 NECTIN1 NPAP1 MT-TQ GCLC SPRED1 HAL TBX1 MTOR BLM ESS2 FARSB PIEZO2 HDAC8 PRKAR1A NF1 MAN2B1 MAPT MLXIPL RAD51 TINF2 MT-CO3 SARDH GRIN2A SOX2 SMPD1 AFF2 SHH KCNJ2 POMGNT1 ORC1 ARVCF MBTPS2 TMEM106B CKAP2L MORC2 SQSTM1 DGCR6 NDN SYN1 GLUD1 DMD PTDSS1 SLC2A10 MT-TS2 FIBP DNAAF4 TREM2 MICU1 RBMX VEGFC LEMD3 ATP7A FOXP2 HERC2 MAGEL2 GP1BB POMT1 ACTG1 UFD1 TUBB2B SBDS MT-TH VCP SNORD115-1 ZFYVE26 HNRNPA2B1 TARDBP DARS2 JAG1 PSMD12 INPP5K SIL1 GRN TUBB4A FLT4 WIPF1 PRRT2 NSD1 IFNG SRP54 TBK1 CACNA1A DVL1 APC EXTL3 SRPX2 SPG7 MAP2K2 FKRP SNRPN RNU4ATAC COMT GABRA1 PRKAR1B COL4A1 WAS GMNN CRPPA RNF168 IRF6 SLC25A15 MYCN JMJD1C SMAD4 GRIA3 TP63 KLF13 DMPK AUTS2 HIRA GJC2 DIS3L2 DVL3 RXYLT1 GNPTAB MT-CO1 SPART SRY TWNK MT-TW ORC4 MKRN3 JRK MT-ND5 GABRB3 CLTCL1 MT-ND6 EHMT1 POMK SNORD116-1 CHRNA7 ELN ASPA KIF11 BBS1 SIX6 DCC WNT5A PDE4D TRIO HINT1 PSEN1 DAG1 KCNC3 LTBP4 TCTN3 DGCR2 CDC45 CHSY1 RDH11 CDC6 TERC POMT2 B4GAT1 PWRN1 ARX DNAJC21 MT-CO2 FKTN B3GALNT2 KCNA1 SEC24C PRNP CDT1 NDUFB11 PRMT7 STIM1 MT-TL1 ACTB THOC6 AMER1 HP_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTONIA PDGFRB TWIST1 HACE1 GLE1 NKX2-1 NDUFS1 DNAJC13 SLC6A8 LIPT1 HTT MARS2 SUCLA2 LMAN2L PRRT2 NEK9 NKX6-2 PSAP MT-ND1 GBA SURF1 TSFM DMXL2 SUOX DRD2 RNASEH2C GCH1 ATP1A3 NDUFS8 NADK2 AARS2 PNPLA8 PINK1 ECHS1 VPS13C PCCB TBP COASY SLC2A1 NDUFS7 MT-ATP6 UCHL1 TH KMT2B ATM MAPT CACNA1G GNA11 PNPT1 C19orf12 RNASEH2A SNCA CP UFM1 TRPV4 KCTD17 DHDDS AUH PET100 NR4A2 NDUFAF2 IREB2 VPS13A TGM6 NUP62 GIGYF2 WDR45 POLR1D MPV17 MT-CO3 TTPA NDUFAF6 ATXN3 SCO2 NDUFS2 SLC25A22 ZC3H14 CLIP1 HIBCH PIGQ COQ2 TOR1A DLD GNAS CKAP2L COL6A1 ZC4H2 TSEN2 PCCA LIPT2 GJC2 NDUFA12 TRAPPC12 MYF5 COL6A3 DNAJC6 TREX1 FTL SERAC1 AP3D1 FBXO31 GFM2 MT-CYB MED25 BCS1L ARSA ANO3 PLP1 ATXN1 SLC39A14 FA2H APTX MBOAT7 NDUFV1 TRAPPC9 COL4A1 PNKP ALDH18A1 FOXRED1 TAF1 MICU1 TBC1D24 MED23 OFD1 PODXL DHX30 SLC18A2 TRAPPC11 RNASEH2B SALL4 JAM2 DCAF17 SDHA ATXN8OS FARS2 QDPR COQ9 TUBB4A UBQLN2 MT-ND5 DDC NPC1 CTC1 AP4B1 SLC19A3 SGCE MRE11 ALS2 GAMT RARS1 PLA2G6 TTC19 GTPBP2 KCNQ2 MYORG SLC9A6 GRIN2B SNCAIP LRRK2 PRKCG ATP7B GABRB2 STN1 GCDH NDUFAF5 CYP2U1 PNKD TXN2 KCNA1 KCNMA1 PIGP FBLN1 FGFR2 COL12A1 ARX FRRS1L MAFB ATP13A2 PRSS12 PCGF2 PDHX KDM5B GNAO1 ADAR MRPS34 IFIH1 SYT1 UQCRQ PGAP1 TPK1 POLR1C MAN1B1 RAB11B RSRC1 ECM1 JPH3 ST3GAL3 IQSEC1 EMC1 TIMM8A IRF2BPL MT-ND6 SDHD PTS CARS2 COX15 SYNGAP1 STX16 FBXO7 PRKRA HINT1 NDUFA10 MT-TL1 KCNC3 TANGO2 MT-ND3 CDKL5 MT-TW MTFMT TUSC3 HPCA AIMP1 NDUFA2 TSEN34 DNAJC12 NDUFAF3 HPRT1 GNAL ADCY5 EDC3 NDUFA4 CRBN GDAP2 NEUROD2 MT-ND2 CYB5R3 MAT1A MECP2 SNORD118 EIF4G1 PDHA1 MMUT NDUFA9 MMADHC DLAT CWF19L1 MTO1 AFG3L2 TRIT1 COL6A2 SCN4A STXBP1 NDUFB8 ADH1C CHMP2B CRADD NGLY1 PDGFB POLR3A TGFB2 UBTF LINS1 NDUFA13 GRIN1 ARV1 VPS13D SYNJ1 PLEKHG2 TUBB3 VAMP2 B4GALNT1 YY1 HSPG2 PANK2 MT-ND4 VAC14 COLEC11 WARS2 BSCL2 SLC45A1 AP4M1 THAP1 SAMHD1 NAXD SLC39A8 PIK3R5 GABBR2 SCN2A ACOX1 AGTPBP1 HTRA2 KAT6A CASK CIZ1 MDH2 NPC2 DCPS SLC30A10 COQ8A FXN VPS37A NHLRC2 PIGC CYB5A CNTNAP1 UGDH STARD7 TPI1 SPR SDHAF1 SARS1 TTBK2 PMPCB ATN1 COX10 NAA10 PARK7 CHN1 CC2D1A VPS35 TRIM8 CACNA1A ACTA1 C12orf4 EARS2 BCAP31 ACTB RHOBTB2 EZR MT-ND4L EPRS1 NDUFAF4 PRKN GRIK2 NSUN2 TNIK TACO1 VAMP1 FLI1 ATXN2 DEGS1 POLR3B GM2A MECR FMN2 NDUFV2 FGFR3 CACNA1E PSEN1 AP4S1 PCDH12 TMEM106B TCOF1 NDUFS3 SQSTM1 ACER3 SCP2 KIF1C SLC6A3 ACSF3 FOXG1 CASR CYP27A1 B3GALNT2 NDST1 AP4E1 NDUFS4 FBXL4 HNMT DNAJC19 SLC20A2 ALDH6A1 SIK1 METTL23 WASHC4 CACNA1B PPP2R2B MT-TK TBCD SETX CHRNA2 DRD5 CDK10 C9orf72 UPB1 MT-TV VCP ZNF142 TECR UBA5 SLC25A42 MCOLN1 GLB1 RNASET2 AARS1 SCN1B SPATA5 ATP1A2 SLC30A9 WDR73 PLAA GLUD2 HP_COMMUNICATING_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMUNICATING_HYDROCEPHALUS DNAI1 CDCA7 SKI DNMT3B MPDZ PTEN SEC24D HERC1 FBN1 P4HB SLC2A1 MAN2B1 HELLS ZBTB24 HP_BIMANUAL_SYNKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIMANUAL_SYNKINESIA FGF8 WDR11 SEMA3A DNAL4 FLRT3 CEP152 PROKR2 NSMF KISS1R DCC CCDC141 CHD7 NTN1 FGFR1 HS6ST1 RAD51 FGF17 ANOS1 EP300 SOX10 IL17RD SPRY4 CREBBP DUSP6 GDF6 TACR3 FEZF1 HESX1 PROK2 KNL1 HP_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONUS SMS DNM1 PIGY NKX2-1 TMEM231 ATP13A2 HTT GLRA1 CHD2 ADRA2B CLN6 SCN3A PSAP SC5D STXBP1 GPHN TOMM40 SLC1A4 SLC13A5 CHMP2B EFHC1 NGLY1 POLG CDKL5 ACTL6B TREM2 DRD2 NDUFV1 MT-TF RORB CNKSR2 PLPBP SLC1A2 VPS13D ATP6V1A ADSL BOLA3 COQ8A SLC2A1 TRAK1 TH KMT2B GRIN2B PLA2G6 ATM COG8 MAPT SCN8A GNA11 EPM2A RFT1 SYNJ1 SNCA JRK PIK3CA CACNA1H KCNC1 WWOX CLCN2 KCTD17 MT-ND1 MT-ND4 BSCL2 GABRD KCNQ3 GUF1 CNPY3 SERPINI1 CPLX1 NUP62 SLC6A1 PLCB1 SCN2A NTRK2 GRIN1 PRNP SGCE MT-TQ AKT1 ARX NAGA DENND5A GABRA2 MT-TI SLC25A22 HIBCH GCSH GABRA1 CASK PSEN2 CIZ1 PIGQ TOR1A CSTB MARCHF6 GNAS GLRB GBA ADAR NFASC CLN8 DHFR GABRG2 PPT1 KIF1B HMGCL CACNA1B KIF5A POMGNT1 AFG3L2 DAB1 TRAPPC12 MT-CO3 SIK1 DNAJC6 GRIN2A FARS2 STARD7 AP2M1 PURA NEU1 SCARB2 SDHAF1 ANO3 PRKCG ATN1 CUX2 GLDC TWNK TSEN54 PDGFB MT-TS2 KCNQ2 GAMT TAF1 CYFIP2 CILK1 TPP1 GALC KCTD7 TBC1D24 PRDM8 THAP1 PODXL TOE1 ST3GAL3 TSPYL1 TRIM8 TRAF7 MOCS1 STAMBP GOSR2 TBP PNPO GLRX5 PRRT2 SUFU CLN3 QDPR NHLRC1 AP3B2 EEF1A2 KCNB1 CTNND2 CLPB PSAT1 RMND1 MT-TH DDC LIAS NF2 PIGV NUS1 CACNA1A GLYCTK TYROBP GRIK2 MRE11 MT-TL1 BAP1 AP5Z1 MECP2 CCDC88A SPTAN1 DMXL2 SLC6A5 TERT NOL3 CLN5 GRIN2D SMO MOCS2 SORL1 INPP5E NDUFAF3 ATAD1 GABRB2 NUP214 CLTC MECR PRICKLE1 MT-TP PSEN1 ATXN2 BRAT1 CACNB4 GRIA3 CACNA1E NECAP1 ZNHIT3 PTS APP SZT2 PIGP YEATS2 ST3GAL5 AARS1 PIGO UBA5 SLC25A46 NOP56 ARV1 ASAH1 KIF1C PIGL PHACTR1 YWHAG DNAJC5 SMARCB1 MT-CO1 CTSF CERS1 MT-TW PGM3 GNAO1 MT-ND5 GABRB3 PARS2 CASR SDHA MT-ND6 PCDH19 CYP27A1 SDHD PNKP KCNA2 CARS2 DOCK7 ABCA7 PPP3CA STX16 FBXO7 HLA-DQB1 MT-ATP6 SCN9A KCNC3 KCNA1 PIGW MTPAP WDR45 FRRS1L FOXRED1 SAMD12 SCN1A MT-CO2 FGF12 C9orf72 DHDDS CLCN4 ADCY5 GABRA5 NEUROD2 PIGA CNTN2 SMARCE1 MAPK10 HCN1 TXN2 AMT PGAP3 KCND3 SCN1B SYNGAP1 PGAP2 MT-TK LMNB2 HP_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR OXR1 PDGFRB NKX2-1 CAMTA1 DNAJC13 TENM4 THOC2 LIMK1 MPLKIP NKX6-2 FMR1 PSAP PMP22 MT-ND1 GBA SLC13A5 ATXN8OS REEP2 SAMD12 TSFM MYO5A NF1 SPTBN2 NUS1 TPP1 GCH1 MAG ELN CNKSR2 GSS SCN1A AARS2 PINK1 SACS SLC1A2 CRAT VPS13C TBP PDYN GABRG2 RRM2B MT-ATP6 UGT1A1 UCHL1 ADGRV1 TH FGF8 ATM OPA3 MAPT SCN8A C19orf12 SYNJ1 SLC6A17 SNCA CP RAB3GAP2 WWOX DHDDS TRAK1 VAPB AIFM1 ATP2B3 NR4A2 ERCC8 ANOS1 LRRK2 TGM6 B9D1 ATP1A3 HMGA2 TNNT1 GIGYF2 WDR45 PRNP MT-CO3 NDUFS2 COQ2 TTPA GABRA2 PNPLA6 SLC25A22 RNF113A CACNA1G ATP6AP2 PIGQ ELOVL5 POLG INPP5E MARCHF6 TCTN2 SFXN4 UFC1 ATCAY GJC2 CACNA1B ALDH18A1 MT-ND4 DNAJC6 TREX1 SDHA FTL NTNG2 PIGN RPGRIP1L MT-CYB ARL3 SCARB2 ANO3 PLP1 WFS1 ATXN1 SLC39A14 APTX LYST LRPPRC RFC1 TNFSF11 TRAPPC6B TCTN1 AR COA7 FLRT3 SLC25A11 ARSA SLC9A1 TAF1 KISS1R MICU1 ITPR1 TBC1D24 CCDC141 OFD1 CPLANE1 PODXL SLC18A2 CLCN7 ABHD12 TRAPPC11 RNASEH2B LEMD3 CHCHD2 AHI1 ARL13B FAM126A SCN1B FARS2 QDPR STUB1 EEF1A2 KCNB1 MYH14 MT-ND5 CEP104 GTF2IRD1 KIAA0586 ZFYVE26 CTC1 CACNA1A TMEM237 VLDLR MRE11 DARS2 RARS1 SDHD GPT2 VPS35 RET RFC2 PLA2G6 DMXL2 TTC19 TUBB4A ERCC6 DLST GTPBP2 MMAA HNF1A SNCAIP DCC PEX2 ATP7B SOX10 CLTC ADA2 ARMC9 FRMPD4 ITPA ATXN2 CLIP2 LNPK NECAP1 DRD3 HESX1 SZT2 FUS PIGP DNMT1 MECP2 TMEM70 ERCC3 AARS1 CEP120 UBA5 ATP13A2 SLC25A46 MTM1 NOP56 SCYL1 TSHR CNTN2 ADAR CEP41 ANO10 IFIH1 CARS2 GCK YWHAG CSTB CEP126 GNAO1 PARS2 SDHB TIMM8A RAB39B DPM1 MDH2 MT-ND6 PCDH19 DNMT3A TOR1A PTS KCNA2 TARS1 GABRD PEX10 PROKR2 MT-ND4L FBXO7 ERCC4 PRKRA FGF17 SCN9A KCNC3 ADAMTS13 KCNA1 PRDX1 MPZ RNASEH2C POLR3A TK2 SMN1 CDKL5 HPCA PPP1R15B CCDC88C FGF14 BRAT1 FGF12 PIBF1 NIPA1 MME KCNJ18 ADCY5 SCN2A NGLY1 NEUROD2 SLC5A7 PAH PCBD1 MT-ND2 SNORD118 EIF4G1 GJB1 HCN1 SPRY4 FLVCR1 AMACR SLC25A4 CWF19L1 SYNGAP1 PDE6D ABCB7 TNFRSF1B DNM1 ADRA2B GRM1 SCN3A STXBP1 SDHAF2 ADH1C SLC25A13 VHL TCTN3 GBA2 FGFR1 PDGFB PRICKLE1 ACTL6B PGK1 SMN2 BEAN1 SLC39A4 PDE10A VPS13D ATP6V1A QRICH1 ABCB6 COQ8A GTF2H5 BSCL2 WDR11 YY1 MT-CO1 MSTO1 PPP2R2B KCNC1 NPHP1 CSPP1 MFN2 GALC HS6ST1 ZFR HIBCH SDHC FH JPH3 SLC6A1 IL17RD NTRK2 SAMHD1 PIK3R5 ITM2B CA8 CC2D2A SGCE HTT SLC2A1 GGT1 GTF2E2 HTRA2 ADPRS GABRA1 CASK CIZ1 XPNPEP3 SLC12A6 MYOT GPAA1 TMEM67 NFASC KIAA0556 UBE3A POLR3B TAT SLC30A10 DAB1 PEX6 FXN STARD7 TPI1 MMACHC NEU1 SPR TCIRG1 MORC2 AFG3L2 PRKCG ATN1 EPAS1 ERCC5 PARK7 POLG2 TMEM240 BAZ1B CYFIP2 PIK3CA SNX10 CTLA4 TRIM8 KIF1C GOSR2 PNP MKS1 AP3B2 ARX PANK2 CTNND2 NONO EPRS1 PRKN GRIK2 PDK3 CUL4B TWNK GRIN2D FAM149B1 TTR GTF2I CACNA1S VWA3B PTEN CHCHD10 MEN1 PGAP1 TACR3 UROC1 PMPCA RORA COL6A3 VCP YEATS2 TMEM106B KIF7 SLC52A2 SQSTM1 KIAA0753 VPS13A ARV1 ASAH1 AKT1 SCP2 RLIM HNF4A CTSF SPG11 LAMA1 ATXN10 DUSP6 VAMP1 ERCC2 TMEM127 CD28 PROK2 CYP27A1 PNKP DCTN1 CTDP1 NSMF DDOST PRPS1 PPP3CA GABRB2 DNAJC19 TRIO SLC20A2 SIK1 STX1B TBL2 NAXE ELOVL4 TMEM216 OPA1 LMNB1 MAX SETX KIF1B MTFMT GALT ATXN7 IFRD1 MARS1 RNU12 C9orf72 SEMA3A RNASEH2A POLR1C GABRA5 DPAGT1 TFG CDH23 CHD7 KCNJ10 ZNF142 MAOA MAN1B1 HYLS1 SLC6A3 KCND3 ERLIN2 CTH FEZF1 GLUD2 GABRA3 WDR81 HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM GPSM2 NSD1 OSTM1 CENPE SOX4 TRAPPC12 ERCC3 TARS1 MPLKIP ARID2 SMARCC2 LRP2 FRMD4A TMEM260 SMARCA4 PDHX SOX11 ARID1B SMARCB1 C2CD3 ARID1A SMARCD1 DHCR24 GLI2 L1CAM SMARCE1 KIDINS220 ERCC2 KATNB1 MED12 AMER1 CRPPA GTF2E2 DPF2 SLC25A19 GTF2H5 RNF113A TUBB3 WDR4 HP_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LISSENCEPHALY RAB3GAP1 NSDHL SNAP29 PHGDH RTTN STS POMT1 STXBP1 B4GAT1 KIFBP CTNNA2 FKRP MCPH1 LARGE1 STIL CDK5RAP2 GMPPB RAB3GAP2 ATR RNU4ATAC ISCA1 TUBB3 POMGNT2 WDR4 ARHGAP31 FKTN TUBG1 CEP135 NUP133 KNL1 EML1 WDR26 PAFAH1B1 DCX DCHS1 SCN2A CDK5 FIG4 ACTB CDK6 SLC25A22 PRKDC CASK TMTC3 POMK PIGQ FLI1 TAF13 NUP107 OCLN POMGNT1 MFSD2A MLYCD GFM2 TPRKB CRPPA LAMB1 LAMA2 CTU2 TCTN1 RAB18 ATP6V0A2 ASPM CEP63 VPS33B TBR1 TBC1D20 CCBE1 TRIM8 ETFA PHC1 POMT2 ARX ACTG1 PSAT1 RMND1 TUBB2B KATNB1 MAP11 CRADD VLDLR CCDC88A ATP6V1A DMXL2 ETFB TUBA1A KIF2A MACF1 DHCR24 YWHAE WDR62 PIK3R2 MPDZ PYCR2 METTL5 GPX4 ZNHIT3 COL4A1 PIGP NCAPD3 B3GALNT2 OSGEP ADAMTS3 LAMC3 CENPJ FOXG1 RXYLT1 VIPAS39 GNAO1 WDR73 KIF14 CEP152 TP53RK TUBGCP6 PNKP SASS6 ETFDH TCTN2 PEX13 SIK1 DAG1 NDE1 CSNK2A1 HIC1 KCNA1 RELN KIAA1109 NEK1 CDKL5 TUBGCP2 VAC14 PEX10 COPB2 ATP6V1E1 DYNC1H1 NEUROD2 ANKLE2 SLC25A19 TMX2 FAT4 FTO SCN1B LAGE3 CIT HP_CEREBRAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HEMORRHAGE MDH2 FGA JAK2 SDHD DNMT3A BAP1 CST3 RET VHL TERT ENG SMO DLST SDHB SDHAF2 CCM2 FCGR2C SH2B3 GDF2 NF1 APP TGFB3 FGB SDHA HELLPAR CPT2 MAX PDCD10 KIF1B TMEM127 COLGALT1 EPAS1 COL4A1 PDGFB SLC25A11 PIK3CA SMAD4 CFH NDE1 ACVRL1 SMARCE1 CD46 GDNF TRAF7 SMARCB1 SDHC FH KRIT1 SUFU F13A1 ABCC6 PROS1 AKT1 FN1 FGG F13B NF2 USP18 CFI HP_ABSENT_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SPEECH SNX14 DEAF1 SMS NALCN VPS11 CCDC47 SLC1A4 KLHL15 ATP6V1A FRMD4A KCNAB2 STRADA NGLY1 CTNNA2 FOXG1 SHROOM4 TCF4 ADSL CLP1 PARS2 DPM2 HERC1 GRIN1 CPLX1 SETBP1 SLC1A2 MED25 SPATA5 PRDM16 CLIC2 CHMP1A PNPT1 SLC6A17 ELP2 GNS ALG11 UFM1 TMEM231 NFIX HNRNPU SLC9A6 GNAO1 PPP3CA WARS2 INTS1 ACTL6B NCAPG2 COG4 IREB2 EEF1A2 SIK1 UBE3B TELO2 KIF1A WDR26 PIGG NACC1 KCNB1 HTT GMPPB MCOLN1 TMCO1 DCPS RARS2 DENND5A SMARCA2 PIGP LINGO1 TMTC3 KCNH1 USP7 MDH2 CAMK2B AIMP2 TBCD RERE YY1 NRXN1 UBE3A MECP2 LIPT2 UFC1 TIMM50 CNKSR2 KIF5C CNNM2 NTNG2 UNC80 NEDD4L PIGW SERAC1 PIGN CASK PURA PIGA MBOAT7 KIAA0586 CAMK2A TRAPPC11 PMPCB YME1L1 SKI ASXL3 GEMIN4 WDR45B EXOSC3 HNRNPH2 BCL11B WDR45 GRM1 PUS3 DHX30 KAT6A TOE1 C2CD3 TRAPPC2L ZSWIM6 EARS2 NEXMIF FARS2 CYFIP2 RHOBTB2 UBTF GRIN2D COG8 RMND1 SPTBN4 FGF12 VPS33A DARS2 CUL4B RAC1 SLC16A2 PGAP2 CCDC88A DNM1 NTRK2 CLCN4 MACF1 MID2 PPP2R5D LAS1L DEGS1 GABRB2 RAB3GAP2 IQSEC2 FRMPD4 GABRG2 EXTL3 KIF15 LNPK POGZ CACNA1E KCNQ5 ISCA2 ST3GAL5 PRPS1 ZBTB18 PIGV STXBP1 CDC42 TAF2 SLC6A3 USP27X MRPS34 AP3B2 CCND2 CARS2 SYT1 UQCRQ GRIA4 TRRAP RAB11B UGP2 ASH1L TBL1XR1 MPDU1 CNTNAP2 WDR4 OTUD6B ZEB2 HIKESHI PACS1 GOT2 TCTN2 ASPA ERLIN2 SMARCE1 PPP2R1A CHAMP1 TRIO MFF CACNA1B CSNK2A1 TANGO2 PYCR2 KIAA1109 GABRD GPT2 FRRS1L GRIN2B DAG1 HUWE1 BRAT1 RPL10 CSPP1 ATRX KCNA2 ALDH18A1 HIVEP2 MAGEL2 PGAP1 BMP4 SLC2A1 TKT UBA5 SLC25A12 IFIH1 SCN3A NR2F1 POMT1 GABBR2 SLC33A1 MFSD2A TRIT1 NCAPD2 TUBA8 HP_PSYCHOTIC_MENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_MENTATION MT-CO2 MT-ND6 MT-CO1 MT-TF AIP GSS MT-TW MT-TS2 MT-TQ MT-ND5 MT-TL1 MT-ND1 MT-ND4 USP8 MT-TH MT-CO3 HP_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA PDGFRB CAMTA1 SLC1A4 MICOS13 NKX6-2 ERLIN1 RUBCN REEP6 RAB3GAP1 KIAA1549 RNASEH2C SPTBN2 ERCC3 CLP1 MEFV OSTM1 STIL PLPBP CC2D2A PINK1 CRAT BRIP1 SLC2A1 NDUFS7 ADSL WASHC5 UCHL1 SLC52A3 TRAK1 CHMP1A NSD1 CACNA1G RDH12 REEP2 CCR1 IREB2 KIF1A NUP62 SIGMAR1 KCNK4 ABAT GJA1 DNMT1 SDHB DYNC1I2 NT5C2 EGF CDK6 RNF113A SLC7A14 REEP1 MT-TW PEX12 SLX4 MAPT AGBL5 KCNC3 ALDH18A1 KIF5A TIMM50 SEPSECS C4A CASK NALCN BEST1 VPS13C EXOSC9 ATRX BCS1L FANCA VRK1 DSTYK SLC39A14 FA2H MTPAP NDUFV1 DDHD2 XRCC2 TOE1 ABHD12 PHC1 JAM2 USP8 OCRL SDHA CHCHD2 ATXN8OS FAM126A OFD1 ARL6 GTF2IRD1 MT-ND5 SDHD FANCB DDC CDHR1 FAS ACSL4 ZFYVE26 AP4B1 MRE11 NDUFS2 RARS1 MECP2 PSAP CNGA1 FANCM DHDDS PLA2G6 TTC19 ALS2 NTRK2 SPG11 SELENOI PRKCG EP300 POU3F4 PRDM8 DGUOK POMGNT1 NEK2 EXTL3 SPG7 POMT1 CYP2U1 MAK GALC CHMP2B CLIP2 BBS2 KLC2 ZFYVE27 C19orf12 IL23R NCAPD3 ERAP1 TRMT5 ATP13A2 TAF2 NOP56 C8orf37 NEK1 NEU1 MRPS34 DKK1 UQCRQ CERKL CREBBP OPA3 UGP2 UNC93B1 KIF14 HLA-B GARS1 RAB18 EEF2 LMNB1 ASPA NAGA MAD2L2 ATXN7 ERLIN2 PRKRA SPART PRPF4 NDUFA10 MT-TL1 GLRB NDUFS1 TANGO2 TUB MT-ND3 TTC8 KIDINS220 FUS CCT5 SNCA MTFMT MT-ND6 HUWE1 ARX BRAT1 PIGN PIGT NIPA1 CCDC88C NDUFA4 TIMM8A GDAP2 PAH HGSNAT EIF2S3 ABCC8 MAT1A EYA1 GJB1 QARS1 ATP6AP2 PEX10 ARHGEF18 DLAT RTN2 RP1 PALB2 PEX16 HSPD1 DCTN1 C9orf72 ASNS GLUL GRM1 ATXN10 AIFM1 GBA2 MCPH1 BEAN1 GUCA1B CDK5RAP2 PDE6G NDUFA13 SYNJ1 ISCA1 COQ8A KCNT1 IDH3B B4GALNT1 ARSA VAC14 PPP2R2B IBA57 PEX13 SLC6A19 PDE6B PEX11B AP4M1 MT-ND1 JPH3 PODXL SLC39A8 LBR SPAST PC PEX1 PIGP ALG9 SPATA7 TRMT10A CACNA1A LRRK2 ADAR NFASC UBE3A MAN2B1 POLR3B MARS2 MED17 VPS37A MFSD2A RPGR CNTNAP1 FANCD2 PDYN SDHAF1 DDHD1 AFG3L2 COX10 FBXO7 MFN2 GLDC PEX2 ASPM CEP63 GCH1 HTRA2 BAZ1B SETX NDUFS4 CAPN1 TRAF3 CYP7B1 BICD2 SAMD9L ATXN3 HTT DCC PCYT2 CWF19L1 TBX4 NONO CLPB ERCC1 MAP11 CPT1C RAD51 GLYCTK BSCL2 SLC16A2 TACO1 EYS RGR HARS1 ALG3 VAMP1 ATAD1 VWA3B SLC25A22 MT-TN MECR NDUFV2 UROC1 CACNA1E ZNHIT3 PTS SLC33A1 SURF1 STAT4 AP4S1 TMEM106B KLHL7 PRPS1 SQSTM1 AAAS RLIM KIF1C RAD51C TSEN15 PGM3 ERCC2 PDHA1 SLC25A15 USH2A RP2 RPGRIP1L JAM3 HIKESHI TBK1 IFT172 ATXN2 MT-ATP6 CHP1 SACS MT-ND4 FAM161A RPE65 PRNP SLC20A2 KDM5C FLRT1 ELOVL4 LARGE1 ATL1 ARL3 MT-TK LRAT VCP COPB2 COG4 MERTK SUMF1 KCNA1 MT-TV DPAGT1 C12orf65 ARL6IP1 ATXN1 TMX2 PLP1 HPRT1 GM2A AMT MAB21L1 MCOLN1 MCCC2 SETD2 KCND3 NDE1 TRAPPC11 CRB1 GLE1 LIMK1 LIPT1 MPLKIP GPHN FANCL NARS2 PRPF6 PMP22 SLC6A9 SPTAN1 NUBPL TPP1 ELN NDUFS8 IL12A-AS1 GMPPB ECHS1 PRPH GNAQ TTBK2 ZNF408 ALG2 ELP2 CEP135 PET100 KNL1 KLRC4 AP4E1 NDUFAF2 TGM6 HRAS GCLC COQ2 RARS2 DENND5A TSEN2 UFC1 L1CAM UBAP1 WWOX NRAS FTL MBOAT7 CRX PNPLA6 PRUNE1 KRAS RBP3 CNGB1 TRAPPC6B ZNF513 FOXRED1 GAMT KY ITPR1 IFT140 PUS3 SLC18A2 UBE2T GLRX5 FARS2 TFG COQ9 STUB1 SLC19A3 VLDLR GPT2 IL12A AP5Z1 PRSS12 PEX19 RFC2 ERCC4 SLC6A5 GTPBP2 KIZ PRRT2 MYORG GRN NDUFAF3 PRPF8 MCCC1 NDUFA12 RNASEH1 FRMPD4 ACOX1 ISCA2 POMK PEX6 LYRM7 ST3GAL5 MT-TL2 WDR62 SLC25A46 ABCA4 PEX5 SCYL1 AUTS2 ANO10 BRCA2 SOD1 CENPJ NRL PAX1 PROM1 BRCA1 WDR81 DPM1 IMPDH1 CNNM2 TARS1 SASS6 POMT2 PRCD COX15 PDE8B ATP8A2 TCTN2 OCLN MFF CA4 PYCR2 NR2E3 KCNJ6 PPP1R15B NDUFA2 AMPD2 PCARE TMEM67 ADCY5 GMPPA ANKLE2 PEX3 NSUN2 NDUFA9 SLC25A12 SLC25A21 CLRN1 AHR ABCB7 FKRP FANCE GBA NDUFAF6 NEFH ATP6V1A PDGFB RFWD3 CTNNA2 POLR3A ALG11 CSF1R PARS2 SMG9 VPS13D GTF2H5 SLC29A3 TOPORS CAV1 MATR3 RFT1 SCAPER ARL2BP WARS2 ZFR AUH HIBCH FANCF GRIN1 PRPF3 GTF2E2 GCSH FANCG GPAA1 TAF1 TAF13 MLXIPL HTRA1 CA8 NDUFAF5 RUSC2 PCLO FANCI UGDH APC2 UBAC2 PIGA GAN SPG21 GAD1 PARK7 EXOSC3 NOTCH2NLC TLR3 PEX26 TREM2 NDP AHI1 SAG SLC46A1 IER3IP1 TLR4 CYFIP2 PANK2 PSAT1 KATNB1 NDUFAF4 SYNE1 PRKN CCDC88A TICAM1 TUBB2B PEX14 INPP5E GTF2I GJC2 DHX38 IDH3A PGAP1 PMPCA DARS2 IL10 METTL5 RHO SPR COG5 PSEN1 RP9 PCDH12 ADGRG1 RLBP1 PQBP1 HEXB CTSF DARS1 KDM1A PLCB1 WDR4 CEP152 TH CYP27A1 NDUFS3 FANCC GFM1 PRPH2 ROM1 TBL2 TREX1 OPA1 SEMA4A TUBGCP2 TULP1 SNRNP200 IFT88 GLRA1 MT-ND2 MT-TE FSCN2 IFRD1 ACTA1 LINS1 GRID2 IMPG2 SIK1 PRPF31 CIT PDE6A WDR73 AP1S2 DNAJC6 FDX2 HP_BRISK_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRISK_REFLEXES TRMT10A C19orf12 GLE1 TH ATRX CAMTA1 ALDH18A1 GCH1 GBA2 MT-TL2 ANO10 BSCL2 SPAST PARK7 HARS1 COQ8A JAM2 MT-TL1 PPP1R15B MT-TN IER3IP1 REEP1 TUBGCP2 CHMP2B ADSL COG5 LYRM7 SYNE1 HP_FACIAL_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_DIPLEGIA GLE1 CRYAB KLHL41 TWNK SLC12A6 ACTA1 SUCLA2 NEB FKRP TK2 FKTN POMT1 ABCA1 ADCY6 KBTBD13 CNTNAP1 TPM3 TPM2 TTN RRM2B CFL2 CRPPA VCP RYR1 POLG SLC52A3 YME1L1 LMOD3 DMPK POLG2 KLHL40 MYPN MPZ C12orf65 SPEG SCO2 SLC25A4 BIN1 SOST HP_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLURRED_SPEECH KCNA1 DARS2 ATP6AP2 ITPR1 ANO10 KCND3 TNFSF4 SLC1A3 NEU1 ATP6V0A2 ACOX2 MAPT PRNP PODXL HLA-DRB1 GALC HLA-DQB1 DNAJC6 HCRT MT-TK SPART SYNJ1 CA8 SPG7 GLB1 SPTBN2 CWF19L1 ZNF365 ABCD1 SETD2 MOG CTSH ATXN1 EZH2 P2RY11 HP_MEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALENCEPHALY SMS TSC1 MTOR PIK3CA HEPACAM SMO HRAS ASPA STRADA FGFR3 IFNG CCND2 HERC1 NRAS PIK3R2 MLC1 TSC2 PTEN AKT3 KRAS FGFR2 DEPDC5 TBC1D7 RAB39B CRADD HP_PLAGIOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLAGIOCEPHALY TWIST1 NALCN PIGY CCDC47 ADAT3 FGFR3 AFF4 PPP2R5D LMX1B ZBTB20 SMC3 ARID1B UNC80 MED13L SLC26A2 PIGL TUBB3 FGFR2 NFIX TCF20 PIGV PIGO MAFB COL11A2 PCGF2 TCF12 ADAR MBTPS2 STXBP1 IFIH1 HERC2 ADNP HRAS SAMHD1 RAC1 MN1 TBC1D24 CHSY1 FKTN ERF WDR35 KAT6A COL11A1 PPP3CA MYMK SET NRXN1 MED12 FBXL4 PPP2CA CNTNAP2 PPP2R1A NRAS FAM20C TREX1 ERMARD MIR140 DHX37 PIGW RNASEH2C UGDH KIAA1109 EFNB1 TBCD PRUNE1 KIDINS220 USP7 ZIC1 KRAS FBXO11 RNASEH2A CHN1 DYNC1H1 KMT2C BMP4 DPYS RNASEH2B SALL4 PGAP3 NONO PGAP2 ARID2 MAF HP_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOLOPROSENCEPHALY FKTN PTCH1 SEMA3E FGFR3 TCTN2 RPGRIP1 DHCR7 CEP57 RTTN PRRX1 FGFR1 GLI3 OTX2 POMGNT1 SIX3 ZIC2 GAS1 WDR81 HOXA2 NODAL LHX4 SHH B3GALNT2 BUB3 CEP290 FOXH1 SOX2 CEP55 B9D2 DISP1 CDON BUB1 WDPCP TGIF1 POMT1 B9D1 CILK1 FKRP CHD7 HESX1 HUWE1 MKS1 PROP1 CC2D2A TMEM67 TMEM231 LARGE1 L1CAM SUFU C2CD3 RPGRIP1L FGF8 TMEM107 GLI2 POMT2 GMPPB DLL1 TRIP13 RB1 FOXA2 TMEM216 TDGF1 BUB1B POU1F1 CSPP1 GPKOW HP_NYSTAGMUS_INDUCED_HEAD_NODDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYSTAGMUS_INDUCED_HEAD_NODDING GTF2IRD1 CLIP2 ELN LIMK1 RFC2 GTF2I BAZ1B GPR143 TBL2 HP_CALVARIAL_SKULL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_SKULL_DEFECT BMS1 COL18A1 HSPG2 LBR NSD2 RBPJ DOCK6 ITGB4 UBR1 ARHGAP31 DLL4 ALX4 NOTCH1 WNT7A FRAS1 EOGT FREM2 NELFA LETM1 PLEC GRIP1 HP_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOSYNOSTOSIS TWIST1 RSPRY1 SLC12A6 MPLKIP MASP1 RTTN WDR35 CEP152 SMO PTEN RECQL4 PPP1CB FGFR2 GPC6 MAP3K7 FGFR1 MSX2 KRAS B3GLCT GTF2H5 STAT3 FGFR3 BPNT2 IFT122 ORC6 COLEC11 SCARF2 RREB1 IFT140 LRP5 SLC39A8 TMCO1 SPECC1L TCF12 GTF2E2 GLI3 RNF113A SLC35A2 KAT6A CHST14 CEP120 PPP3CA IFT43 YY1 ESCO2 MAN2B1 MEGF8 SKI POR APC2 ORC1 ARVCF TCIRG1 DMP1 DSE DONSON SLC2A10 RAB23 TNFSF11 IL11RA PCNT SEC24D SNX10 CCBE1 CLCN7 TGFBR1 TLK2 GP1BB HNRNPK ERF P4HB PSAT1 UFD1 ALX4 COL10A1 CENPE MAF LIG4 ZIC1 WDR19 CCNQ IFT52 DPF2 PIGT EXTL3 GNPTAB ATRIP IRX5 COMT GMNN JMJD1C GLIS3 COLEC10 ERCC3 DPH1 CENPJ ENPP1 SMAD6 NFIX HIRA ADAMTS3 TGFBR2 AKT1 SLC25A24 NSUN2 ALPL ORC4 ERCC2 TBX1 TBC1D24 CDH11 TARS1 SON MED12 PLK4 FBN1 CTCF RBBP8 CDC45 EFNB1 NSD1 CDC6 IL6ST PHEX POLA1 HUWE1 MYH3 LEMD3 ATR TRAIP AHDC1 CWC27 SEC24C CDT1 CYP26B1 BMP4 KPTN SETD2 FLNB SMAD3 FAT4 FLNA HP_ABNORMAL_JOINT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JOINT_MORPHOLOGY TWIST1 KMT2D POLR1A IL2RA SMARCAL1 CTBP1 GLI3 GLRA1 KCNJ1 ELP1 F7 KIF7 FKRP BLNK KCNAB2 MVK ARID1B PTEN COMP STAT3 LMNA CLCN5 SOX9 HEPHL1 LMBR1 GPC3 RRAS2 MEFV TP53 UPF3B CASP10 BRIP1 TRPV4 COL2A1 ASAH1 MED25 DYNC2LI1 CBL TCF12 SALL4 CHMP1A NSD1 FGFR3 BPNT2 OPA3 FXYD2 GSC SHOC2 DNAL4 GLA FKBP10 COL11A2 CCR1 NFIX BGN CCR6 MYH3 LGI4 PTCH1 NEB EXT1 IL6 BPTF NUP133 ATP7A RAF1 EMG1 MEGF10 COLQ GJA1 MYH8 SDHB ORC6 DCLRE1C PCYT1A GAN NT5C2 HRAS RNF113A SETBP1 MMP13 SLC35A2 SLC37A4 TFAP2A TF ROR2 CCN6 CHST14 CHRND CEP120 RAB33B PIEZO2 BCOR UCHL1 RMRP COL6A1 REEP1 ESCO2 MRAS SLX4 NUP107 MAP3K7 PTCH2 PFKM WRN GLB1 SELENON CHRNG INPPL1 GCM2 KIF5A BRAF PAX3 TREX1 SUFU RAD21 CAPN3 C4A DHODH GABRG2 ATRX PSMB8 FANCA WDR60 DSTYK GHR KLHL7 TBR1 DSE FANCI SLC39A14 ARSB FA2H IGHMBP2 RAB23 GEMIN4 PHGDH ALDH18A1 F11 EVC2 SLC18A3 XRCC2 TNNT3 GMPPB OFD1 FBXL3 NTNG1 MYO9A GDF5 COL5A2 SSR4 CRTAP OCRL ALPL MEOX1 SCN1B ACAN MAGEL2 GNE GTF2IRD1 UFD1 LETM1 COL6A3 SDHD FANCB FAS MEGF8 SNORD115-1 CTC1 AP4B1 GPKOW HACE1 PIGY SEC61A1 LPIN2 FANCM IRF5 PLEC AGRN FLT4 WIPF1 SELENOI GPC4 CTLA4 TONSL GPHN PPP2R5D FGFR2 ATP7B MUC1 C12orf57 EP300 POU3F4 FGB LFNG ALX3 KIF1A IRF6 EXTL3 SNRPN CUL7 PHF6 MMP2 CLIP2 ERCC2 COMT POR VWF STAT4 HLA-DRB1 TBC1D7 ACTG2 ZFYVE27 WAS DOK7 SIL1 CLCN7 C19orf12 IL23R BMPR1B NPR2 ERCC3 ERAP1 MAFB SOX5 PSTPIP1 PEX5 ATP6V0A2 ERLIN2 NANS ENPP1 HIRA DKC1 ADAR BCR GJC2 IL10 TGFBR2 DKK1 AKT1 PTH1R IFIH1 SRY PTDSS1 CPLX1 CREBBP UGP2 HPGD DNAJC21 SLC25A1 CIITA HBB FKTN IGLL1 IRAK1 CHRM3 SOS1 TPM3 MATN3 EZH2 NALCN TNFRSF11B NOG HLA-B TRAPPC12 RAB18 TRPS1 PEX2 FZD2 KCNK9 MAD2L2 SIX6 ZMPSTE24 DDB2 DCC MED12 UFSP2 SPART SH3PXD2B HINT1 VPS13B SCN9A GLRB SLC4A1 BTK SMARCE1 TGFB1 CHSY1 SLC12A1 CAV1 PHEX CD247 PWRN1 KMT2A AGA CD244 ERMARD PIGN PIGT IHH LEMD3 RIT1 NIPA1 PTPN11 COL1A2 ARID2 SCN2A TIMM8A TNNI2 CDC45 XYLT1 GFPT1 ALX1 PTPN22 NLRP3 ERCC4 ATP6AP2 FLVCR1 CDC6 RECQL4 SMAD3 TPM2 HDAC8 PALB2 NLRP12 CCDC8 ERLIN1 FGA DHCR7 KLHL41 GPC6 ACTA1 MASP1 MYO18B RTTN COL6A2 IFT172 AIFM1 GBA2 EIF2AK3 NGLY1 A2ML1 SMARCD1 HES7 TGFB3 ERCC5 PLOD2 SLCO2A1 PIGL SHOX APOE RNU4ATAC B3GALT6 AMER1 B3GLCT TUBB3 SALL1 PRDM16 ERCC1 F2 AP2S1 FLNB PLOD1 PUF60 WASF1 DYM GMNN IFT52 NHP2 ITGB4 BHLHA9 CANT1 COLEC11 MFN2 UROS SPG11 HOXD13 RREB1 DDRGK1 AP4M1 HOXA13 ARFGEF2 UBE3B SLC39A8 COL12A1 HLA-C HOXA11 MKKS GTF2H5 RSPRY1 F5 ABCG8 TRIM2 MACROH2A1 HGD ALG9 GABRA1 F8 NXN TBX5 FIG4 GALNS FLNA DONSON GJB2 ANTXR2 TMTC3 TBX15 IFT57 RAD51 SMARCB1 CLCF1 MECP2 PPP2R3C ASPN MYH14 FANCD2 MBTPS2 NF1 PRG4 AEBP1 IKBKG COL10A1 MTHFD1 RIPK4 LIFR ANKRD55 F13A1 LAMC2 GCH1 TWIST2 NAA10 BAZ1B COL9A1 CCBE1 FLNC UBA1 SIN3A CDC73 HYAL1 SHH SMOC1 ZDHHC9 TBX4 GBA COL1A1 EBP GP1BB NEDD4L NONO ACTG1 MYH7 EFL1 FGG SLC12A3 RPL13 SLC16A2 CRLF1 ANO5 COL9A3 PCNT LAMA3 PSMB9 ADAT3 SRD5A3 ERCC6 ALG3 CENPJ VCP MAP2K1 ATAD1 SMC3 PIK3R2 MAP2K2 L1CAM MUSK GNPTAB CLCNKB ERGIC1 CHST3 IL12B CRKL PTPN2 EXOC6B ZBTB20 ECEL1 MIF RETREG1 AP4S1 SF3B4 COLEC10 EXT2 CBS PIGV SMC1A TBX22 KAT6B KY ADAMTS3 RAD51C SLC35A3 ANKH KRAS BTNL2 STXBP1 IDUA MBTPS1 PITX1 NKX3-2 TBX1 DLL3 POP1 CD96 COL9A2 CYP27B1 SETD5 COL11A1 CHRNA1 MYL2 LZTR1 SNORD116-1 MYOD1 WNT5A TFAP2B SERPINF1 CCN2 CHAT KDM5C SERPINH1 SLC40A1 CDT1 ATP6V1A FHL1 CTCF LARGE1 SPTA1 FBN1 DHCR24 SERPINF2 GDF6 PRKAR1A IL6ST GABRD TBCD ATP6V1E1 CSPP1 RNASEH2A PSAP TGFBR1 NOTCH3 ARL6IP1 HPRT1 RRAS ZSWIM6 IARS2 CYP2R1 ANKRD11 CUL4B ANKLE2 LACC1 HSPG2 SNRPB PRKCD WNT4 SETD2 AARS1 FCGR2A LAGE3 FAT4 SLC34A3 KDM6A BAG3 OSGEP CCDC47 LIMK1 MPLKIP LBR B4GALT7 MYBPC1 PAFAH1B1 TRAPPC2 FBN2 FANCL EPB42 NTN1 CD79A AFF4 PLEKHG5 IL36RN KLHL9 SLC6A9 ELN IL12A-AS1 SCN1A MLX PWAR1 ATR PORCN ADGRV1 SYNE2 ADA2 HAMP FGFRL1 FUT8 BICD2 MMP14 F10 PNPT1 WDR4 UMOD FGFR1 ITGA6 LRBA NSDHL XPC SOX11 KANSL1 KLRC4 SLC5A7 EVC TELO2 TNFSF11 COL17A1 LRP6 DAG1 MCOLN1 NOD2 SYNE1 FGD1 SRCAP VPS33A COL13A1 LMAN1 ZC4H2 FLI1 MAN2B1 OTULIN TMEM70 FASLG NRAS SOX2 KIAA0319L SKI MIR140 MCTP2 ARVCF KIAA0586 COG1 NDN MAPK1 RYR1 SLC35D1 ATL3 GALC PUS3 PLAU HFE TNFAIP3 SPP1 VEGFC RNASEH2B CNTNAP1 WNT7A COL27A1 BMP1 UBE2T TOR1AIP1 MEN1 LMX1B MAF STUB1 ANK1 PEX1 ADAMTS2 HS6ST1 SOS2 SPTBN4 STAG1 ALG14 PYCR1 IL12A RFC2 PSMD12 INPP5K SLC6A5 SDHAF1 FCGR2B SNAP25 DPAGT1 GCDH ARNT2 NSD2 TMEM43 DVL1 NLRP1 GPX4 GNAS EMD FBLN1 GORAB JMJD1C VANGL1 GRIA3 G6PC CFI PDGFRB ACVR1 VDR CNTN1 AUTS2 DNAJB11 SIX1 BRCA2 DVL3 GGCX FRZB DDR2 KIF22 BRCA1 FGF9 IL2RB DPM1 ZNF469 BMPER SMARCAD1 PCDH19 SOX4 GNPTG TARS1 B3GAT3 PADI4 BMP2 HJV RAG2 COL5A1 SLC26A2 ARID1A TCTN3 PIK3C2A NTRK1 RNASEH2C POLR3A CPT2 EFNB1 SLC52A3 CFL2 PSMB4 TNXB USP9X RUNX2 SEC24C ATL1 DYNC2H1 IFITM5 FN1 CTNS CYP26B1 BMP4 GDF3 PYCR2 SYT2 HNF1B LAMB2 PRMT7 NUP88 RIPPLY2 FANCE NFKBIL1 PPP1CB YWHAE VAMP1 SPTB SMARCC2 GLI1 RBM8A RFWD3 SPRTN ALG2 SHROOM4 CDH3 WDR35 NIN SMG9 IGHM SLC10A7 NIPBL HNF4A CHD4 LMOD3 CHST11 SCARB2 NT5E CTDP1 SMARCA2 SCARF2 ECE1 FANCF LONP1 SAMHD1 PEX6 TBX3 NPAP1 MESP2 GPR101 HTT RAG1 P4HTM RAB3GAP2 GTF2E2 SH3KBP1 SFRP4 CYP19A1 ZNF687 FANCG FUZ RERE TBX6 YY1 ASXL1 FGF16 PTRH2 MLXIPL CDKL5 AIP CAPN1 TNFRSF1A GABBR2 APC2 UBAC2 EYA1 ORC1 ACP5 TPRKB SLC39A13 RB1 CYP7B1 APC MORC2 RTN2 RPS15A UBE2A LAMB3 SLC2A10 OBSL1 TFR2 CHN1 EXOSC3 HUWE1 ANO10 GJB6 SMARCA4 HACD1 POMT2 SLC29A3 ITGA7 HERC2 SMO TP63 LRRC8A ADAMTSL2 PLOD3 TLR4 MYOT PSAT1 MECOM DMP1 DPF2 RAPSN LOXL3 NOTCH2 CHEK2 DYSF COPA GATA1 SDHA EIF4A3 GTF2I XPA LRP4 RASA2 CA2 EPCAM DNASE1L3 UNC80 RASGRP1 COG5 RNF168 ADGRG1 HCN1 WNK1 RPL10 PRPS1 PQBP1 GNA11 THRA ORC4 MKRN3 WDR73 CD79B ZIC1 CLTCL1 SAMD9L TP53RK CYP27A1 SPAST F9 FANCC AP4E1 STX1B TBL2 TGDS SIK3 PEPD SUZ12 DNASE1 ARF1 FERMT1 VAC14 TCF3 PIK3R1 IL1RN NOP10 SLC22A4 SMAD4 GLE1 POMT1 MAP3K20 HOXD10 MAP1B MCFD2 RPL26 ACTB EED F13B TRIP11 GUSB AP3B1 COL3A1 HP_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRITIS CCN6 IL2RA NFKBIL1 LBR SPTB BLNK TRAPPC2 EPB42 MVK CD79A IL36RN COMP STAT3 IL2RB TGFB3 MEFV IL12A-AS1 CASP10 MLX MMP13 SLCO2A1 COL2A1 ASAH1 IGHM APOE HNF4A ADA2 PTPN22 MMP14 NOD2 CD247 BTK SCARB2 GLA UMOD CCR1 COL11A2 LRBA CCR6 EXT1 IL6 RREB1 KLRC4 COL11A1 PSTPIP1 HNF1B SAMHD1 HLA-C LRP6 GPR101 RAG1 KIF7 DCLRE1C CTLA4 NLRP3 HPRT1 ABCG8 HGD HLA-DRB1 SH3KBP1 SLC37A4 TF ZNF687 GJB2 PFKM AIP FASLG TREX1 HLA-B MATN3 ASPN TNFRSF1A C4A MYH14 UBAC2 FAS ARVCF ACP5 EXT2 PRG4 AEBP1 MTHFD1 ANKRD55 TFR2 GCH1 GJB6 COL9A1 SPP1 RNASEH2B OCRL LRRC8A GBA COL1A1 LMX1B ACAN GP1BB TLR4 ANK1 UFD1 SLC12A3 IL12A SEC61A1 PHEX COPA HPGD IRF5 FCGR2B TRPV4 PSMB9 WIPF1 CAV1 ATP7B MUC1 EPCAM DNASE1L3 CLCNKB LMNA MMP2 IL10 IL12B RASGRP1 PTPN2 COMT STAT4 GNAS MIF WAS RNF168 CLCN7 JMJD1C IL23R G6PC CFI ERAP1 F8 GHR HIRA PRPS1 ADAR DNAJB11 ANKH IFIH1 COL5A1 FRZB KIF22 TBX1 CIITA CD79B IGLL1 IRAK1 COL9A2 COL9A3 TNFRSF11B PADI4 HJV SMAD3 F9 TRPS1 UFSP2 RAG2 SLC40A1 SLC4A1 SPTA1 FBN1 RNASEH2C DNASE1 CANT1 TCF3 PSMB4 PIK3R1 AGA CD244 COL5A2 LEMD3 FGFR3 RNASEH2A SEC24C GDF5 SLC22A4 ZMPSTE24 LACC1 HOXD10 PRKCD SLC26A2 FCGR2A CCN2 COL3A1 NLRP12 HP_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_ARTHRITIS ANKRD55 IL2RA NFKBIL1 CD247 GCH1 STAT4 PADI4 SLC22A4 IL6 PTPN2 IL2RB IL10 HLA-DRB1 PTPN22 LACC1 ACP5 DCLRE1C CIITA MIF CD244 HP_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_DISLOCATION SHOX KMT2D HACE1 CCDC47 CTBP1 GLI3 LIMK1 GLRA1 MPLKIP B4GALT7 GPHN PAFAH1B1 FBN2 FANCL ARID1B PTEN SOX9 MAP3K7 GPC3 SLC6A9 ELN FLNB COL1A2 BRIP1 COL2A1 ATR PORCN CHRNG FGFRL1 FUT8 BPNT2 ALDH18A1 GSC ORC6 GDF5 NFIX BGN NSDHL NEB SOX11 KANSL1 EXT1 AEBP1 TBX15 SLC5A7 TELO2 ROR2 KIF7 MYH8 B3GALT6 RNF113A CHST14 CHRND COL13A1 COL6A1 ZC4H2 SLX4 FLI1 IL2RA GPC4 FKRP FANCB COL6A3 SKI RAD21 MCTP2 SLC40A1 DHODH ARVCF FANCA DSTYK KLHL7 DSE RYR1 GEMIN4 SELENON MKKS XRCC2 TNNT3 GMPPB FBXL3 HFE GNPTAB COL5A2 SSR4 WNT7A NOG OCRL COL27A1 BMP1 UBE2T LMX1B SMC1A GTF2IRD1 ADAMTS2 UFD1 LETM1 PYCR1 HGD MYO9A FANCM RFC2 ERCC4 INPP5K SLC6A5 SIL1 AGRN ACTA1 GJA1 SNAP25 PPP2R5D BICD2 GCDH C12orf57 ARNT2 EP300 NSD2 DVL1 LMNA CUL7 CLIP2 COMT GMNN CLCN7 FBLN1 GORAB JMJD1C TPM2 ERCC3 ATP6V0A2 FLNA HIRA SIX1 BRCA2 AKT1 STXBP1 DVL3 CPLX1 CREBBP DNAJC21 SLC25A1 KIF22 BRCA1 CHRM3 TPM3 IL2RB ZNF469 TNFRSF11B SOX4 COMP TARS1 B3GAT3 FZD2 MAD2L2 COL5A1 KDM6A GLRB ARID1A TCTN3 MYH3 SMARCE1 TGFBR2 SLC18A3 CDC45 NSD1 CDC6 TBX1 PHEX CFL2 KMT2A ERMARD TRPS1 USP9X ARID2 ANKH SEC24C COL1A1 IFITM5 PYCR2 SYT2 XYLT1 RECQL4 HDAC8 PALB2 CCDC8 FANCE DHCR7 KLHL41 GPC6 YWHAE MASP1 VAMP1 SMARCC2 EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 SMARCD1 COL6A2 PIGL SLC10A7 RNU4ATAC NIPBL GTF2H5 PTPN22 LMOD3 PLOD1 CD247 CHST11 PUF60 DYM HSPG2 PIEZO2 CANT1 COLEC11 SMARCA2 SCARF2 RREB1 ARFGEF2 UBE3B FANCF EXOC6B LONP1 COL12A1 SLC26A2 FIG4 SMC3 GTF2E2 MACROH2A1 ALG9 NXN VDR FANCG DONSON ASXL1 PTRH2 TMTC3 SMARCB1 FANCI APC2 EYA1 FANCD2 ORC1 EXT2 APC UBE2A ANKRD55 SLC2A10 OBSL1 EXOSC3 BAZ1B EXTL3 SMARCA4 HACD1 POMT2 ITGA7 ATP7A SMOC1 TGFBR1 SMO EBP GP1BB NEDD4L MYH7 ERCC1 DPF2 RAD51 NOTCH2 CHST3 ATP6V1A TBX4 EIF4A3 GTF2I ATAD1 LRP4 DNASE1L3 ECEL1 SF3B4 IARS2 COLEC10 KAT6B RAD51C SLC35A3 PTPN2 THRA ORC4 PITX1 ERCC2 IFIH1 CD96 CLTCL1 OFD1 SETD5 CHRNA1 MYL2 SMARCAL1 CYP27A1 STAT4 WNT5A FANCC CHAT NLRP3 TBL2 TGDS ARF1 PRKAR1A IL6ST TBCD VAC14 FHL1 HOXA11 ATP6V1E1 FBN1 CDT1 ZMPSTE24 MBTPS2 POMT1 MAP3K20 SNRPB SETD2 AARS1 MAP1B COL3A1 OSGEP LARGE1 HP_CONGENITAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HIP_DISLOCATION ZNF469 MYO9A CCDC8 KMT2D MYL2 LONP1 MAP3K7 ATP6V1A YWHAE VAMP1 COL13A1 AGRN RYR1 ACTA1 CUL7 PAFAH1B1 ATP6V0A2 GPC4 SNAP25 COL5A1 NGLY1 CHAT PPP2R5D KIF22 SHROOM4 BICD2 FLNA GPC3 DHODH APC2 SLC18A3 EYA1 NSD1 COL12A1 TBCD TPM2 FHL1 PORCN FBLN1 ATP6V1E1 OBSL1 GEMIN4 USP9X CHRM3 SELENON MKKS PIEZO2 KAT6B TPM3 NSDHL HACD1 IARS2 COL5A2 SIX1 PUF60 WNT7A TBX15 ITGA7 SLC5A7 UBE3B TELO2 THRA SYT2 HSPG2 COL1A1 MAP3K20 SNRPB SETD2 DNAJC21 RECQL4 MYH7 SLC25A1 KDM6A CLTCL1 PYCR1 COL3A1 OFD1 ALDH18A1 HP_LIMITATION_OF_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_JOINT_MOBILITY FGFR3 NPR2 LIMK1 NEK9 KCNAB2 GPHN SGSH FBN2 PTEN COMP LMNA MMP13 PTH1R LMBR1 LGI4 MAP3K7 LTBP3 SLC6A9 ELN MYH3 COL2A1 ATR ATRX SMC1A SYNE2 CTNNB1 BICD2 OPA3 HSPG2 GSC PNPT1 BANF1 SF3B4 FKBP10 GDF5 ERCC8 TBX15 KIF1A TELO2 PSTPIP1 TNNT1 COLQ COL11A2 MYH8 PCYT1A HRAS KRT83 SETBP1 RAI1 SYNE1 MMP2 TFAP2A CCN6 SRCAP PIEZO2 COL6A1 ESCO2 IL2RA MAN2B1 WRN SELENON CHRNG PAX3 MATN3 SKI RAD21 UNC80 GNAS CAPN3 HGSNAT SLC40A1 EMG1 NOD2 ANTXR2 CKAP2L PSMB8 TRPV4 KLHL7 ARSB PTPN11 IQSEC2 INPPL1 RAB18 ALDH18A1 DST TBC1D20 CISD2 HFE TRAPPC2 ALOXE3 NOG OCRL LMX1B GNE HNRNPDL GTF2IRD1 ADAMTS2 STAG1 COL6A3 ENPP1 HGD GPKOW PIGY RFC2 SLC6A5 SGCA ERCC6 ADAMTS10 GTPBP2 ACTA1 ZMPSTE24 TONSL ZNHIT3 NALCN IDH1 IDUA SUMF1 TMEM43 EXTL3 DEAF1 PNKD CLIP2 ERCC2 FGFR1 EMD ACTG2 IRF6 GLB1 BMPR1B SMAD4 VANGL1 COL12A1 PDGFRB MAFB L1CAM ERLIN2 DKK1 AKT1 STXBP1 PTDSS1 WFS1 SMARCB1 DDR2 HPGD ATP7A FGF9 IL2RB EZH2 DYM TNFRSF11B EPG5 GNAI3 GNPTG RMRP B3GAT3 FGFR2 FZD2 KCNK9 TNNT3 MED12 ASPA TRPV3 FLNA SH3PXD2B SLC26A2 APC GLRB RNU4ATAC PLP1 FBN1 LEMD3 PIK3C2A CPT2 TTN KMT2A AGA ALDH3A2 NIPA1 LTBP2 USP9X ANKH TNNI2 MFN2 COL1A1 IFITM5 TPM3 LAMB2 TPM2 HDAC8 LIFR RAB3GAP1 GPC6 MASP1 COL6A2 RECQL4 SPRTN ZBTB20 SALL4 GUSB PLOD2 HERC1 SLCO2A1 PYCR1 RAB3GAP2 CLCF1 SLC10A7 TBX5 NIPBL B3GLCT PRDM16 PTPN22 ERCC1 PLA2G6 CD247 GNS COLEC11 SCARF2 ALOX12B PLCB4 SPEG SHOX SLC39A8 ADCY6 P4HTM RSPRY1 SMC3 MACROH2A1 PLEC SFRP4 FUZ RERE NAGLU ADGRG6 PPP2R3C ASPN MBTPS2 PRG4 ERCC5 MECP2 ANKRD55 TGM1 HUWE1 BAZ1B COL9A1 ABCA12 RYR1 UBA1 HACD1 ASXL1 SHH BHLHA9 SLC29A3 ITGA7 F8 TBX4 ADAMTSL2 PLOD3 MYOT ACTG1 TYROBP MAF VPS33A TREM2 MMP9 SLC16A2 CRLF1 CHST3 DYSF ANO5 ACVR1 PCNT ADAT3 SRD5A3 NONO GTF2I MVK SCN4A ATAD1 MECOM ERF MUSK GNPTAB ERGIC1 COL1A2 ECEL1 MYH7 PTF1A COLEC10 GJB2 CBS NOTCH3 KAT6B KY ADAMTSL4 PQBP1 PTPN2 ITGB4 PITX1 BIN1 NSD1 COL9A2 FLII SETD5 MYL2 CYP27A1 STAT4 STING1 IDH2 WNT7A TBL2 SIK3 FHL1 LARGE1 FLNB SUZ12 TGDS GABRD PRRT2 GLRA1 MYBPC1 HOXA11 BGN PERP NDE1 SLC25A19 COL9A3 GLE1 ZC4H2 MAP3K20 SNRPB CNTNAP1 TGFB1 GBE1 ACTB EED CD96 HP_LIMITED_ELBOW_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_EXTENSION SFRP4 BGN SF3B4 OPA3 NPR2 GPC6 RMRP HUWE1 HDAC8 NIPBL FZD2 KCNK9 PCNT MED12 FGFR2 FGFR3 FLNA COMP TONSL CLCF1 PPP2R3C FLNB COL2A1 MATN3 CRLF1 RSPRY1 LMX1B STAG1 TBX5 ATP7A EZH2 MMP13 HP_JOINT_HYPERMOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERMOBILITY CCDC8 KMT2D FGFR3 SHANK3 NSDHL NPR2 PRDM5 SLC6A8 LIMK1 CFL2 SMARCC2 KAT6B WDR35 CEP152 FBN1 NGLY1 PPP1CB RAB3GAP1 A2ML1 HEPHL1 AMMECR1 SMARCD1 COL6A2 RRAS2 TGFB3 TGFB2 ELN RPS6KA3 UPF3B MED12 COL1A2 C1R ATP6V1B2 HNF4A CBL STAT3 KCNH1 IFT122 WASF1 ORC6 FBLN5 MTM1 CANT1 COLEC11 BGN SOX11 KANSL1 FKBP14 ABCC9 AEBP1 RREB1 ATP7A SEC23A ARFGEF2 HNF1B EXOC6B COL12A1 PTHLH P4HTM RSPRY1 SLC26A2 TMCO1 COL1A1 VAMP1 GAN B3GALT6 HRAS KMT2A ALDH18A1 PIGP SLC35A2 ZNF341 TONSL FGD1 SRCAP FLNA SEMA5A LOX ZNF469 YY1 COL6A1 MRAS NFASC C1S TAF1 TMTC3 TRIP11 PIK3CA TAB2 SMARCB1 COL3A1 COL6A3 VPS37A SKI COL2A1 WNT1 ORC1 ARVCF SLC39A8 COL9A2 KDM6B KDM1A NRAS MAPK1 EXT1 RYR1 PTDSS1 SLC2A10 OBSL1 PCNT BAZ1B CREB3L1 UBE3A SMARCA4 TENT5A DHX30 SIN3A COL5A2 IL1RAPL1 OCRL BMP1 SMOC1 TGFBR1 ZDHHC9 TLK2 LMX1B GP1BB NEDD4L COMP GTF2IRD1 ADAMTS2 UFD1 SOS2 DPF2 PYCR1 TNXB CENPE ARID1B EFEMP2 LOXL3 NOTCH2 COL18A1 TET3 RFC2 ATN1 NLRP1 COL9A3 GNE NOTCH3 GTPBP2 ATP6V0A2 LIG4 SLC9A6 GTF2I WDR19 IFT52 ATP7B PTEN EP300 PIGT KCNN3 RASA2 BCL11A CUL7 ATRIP PHF6 BRAF CLIP2 CRKL GORAB COMT ANTXR1 GMNN COL9A1 PTCH1 CDK13 JMJD1C EZH2 LRP5 ENPP1 DNMT3A SMC1A IFT43 RIN2 CENPJ NFIX HIRA BCR VPS13B SMS HOXD13 KRAS COL5A1 SPART CTNND2 NSUN2 CREBBP ORC4 PAX2 SEC24D DNAJC21 KIF22 TBX1 SOS1 LMNA NSD1 XYLT1 OTUD6B LZTR1 LONP1 DPYD PTPN11 C12orf57 SOX4 RMRP PLOD1 SET SON PLK4 PPP2R1A CHAMP1 TBL2 RBBP8 ARID1A CSNK2A1 RAF1 SUZ12 DDRGK1 ARF1 SMARCE1 TGDS POLR3A TGFBR2 PHIP CDC45 PIK3R1 EFNB1 CDC6 XYLT2 ERMARD SATB2 TRPS1 ABCC6 RIT1 ATR TRAIP USP9X ARID2 HDAC4 SEC24C IFITM5 GDF5 CDT1 COL11A1 RRAS PYCR2 MAN1B1 CUL4B KDM6A PIGG MAMLD1 FLNB MAP1B EED B4GALT7 PLAA PUF60 P4HB HP_HIP_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_DYSPLASIA PIGY GLE1 CCDC47 CTBP1 GLI3 PRDM5 MBD5 TET3 ATN1 INPP5K SIL1 KCNAB2 MMP13 CEP152 RNF13 NGLY1 TBX4 NSD2 DVL1 NIN ANKRD11 THOC2 SNRPN PWAR1 PIEZO2 ATRIP IRX5 COL1A2 NIPBL PRDM16 FGFRL1 FZD2 BICD2 PIGO HSPG2 GMNN TRPV4 NFIX ATAD3A CENPJ KANSL1 PIGL PUF60 SLC35A3 DVL3 CPLX1 VIPAS39 KCNK4 HOXA11 WDR26 EBP NPAP1 TTN MKRN3 RAB11B LMNA SLC26A2 SMC3 COL9A2 RERE SETD5 TONSL COMP ZNF469 SNORD116-1 WNT5A UFSP2 PLK4 PPP2R1A WDR19 RBBP8 ATP6V1E1 PPP2R3C SELENON MATN3 PIGW RAD21 POLR3A MYH7 GABRD PWRN1 USP7 KMT2A NDN EXT1 TRPS1 ARSB SKI SLC2A10 ATR TRAIP USP9X UMPS VPS33B PCNT TAF1 COL9A1 COL1A1 GDF5 CCDC8 TRAPPC11 COL9A3 ATP7A HERC2 FARS2 SHPK PGAP3 MAGEL2 SMC1A HNRNPK ADAMTS2 MECOM HDAC8 LETM1 PGAP2 SNORD115-1 PIGV AP3B1 SH3PXD2B CENPE HP_JOINT_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SWELLING CCN6 TNFRSF11B FGA IL2RA CHEK2 STAT4 OTULIN ANKRD55 AIP IL2RB HLA-DRB1 TP53 SLC40A1 FGB F8 ATP7B NOD2 SLCO2A1 ASAH1 CD247 PTPN2 RB1 IL1RN MIF PTPN22 ANKH HPGD IL6 BTNL2 OCRL LACC1 LMX1B GPR101 FGG HGD HP_JOINT_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_STIFFNESS CCN6 RAB3GAP1 NPR2 LIMK1 COL6A2 NEK9 KCNAB2 GPHN SGSH PTEN MMP13 PTH1R MAP3K7 SALL4 LTBP3 TNNI2 ELN GUSB COL2A1 FGF9 MYH3 PLOD2 TPM2 RAB3GAP2 ATRX NIPBL FGFR3 RAI1 SYNE2 PRDM16 ERCC1 PLA2G6 HSPG2 BANF1 DYM PIEZO2 SF3B4 GNS FKBP10 COMP LMNA COL11A2 FLNA SLC26A2 SMC3 KRT83 SETBP1 MACROH2A1 FBN1 SYNE1 SHOX TBX5 SRCAP FUZ RERE ANTXR2 NAGLU MAN2B1 WRN PAX3 MATN3 ASPN SKI RAD21 HGSNAT EMG1 COL6A1 PRG4 ERCC5 MECP2 ARSB IQSEC2 INPPL1 PTPN22 RAB18 TRPV4 BAZ1B TBC1D20 CISD2 UBA1 OCRL ADAMTSL2 LMX1B SMC1A GTF2IRD1 ACTG1 ADAMTS2 HGD VPS33A MMP9 SLC16A2 RFC2 SLC6A5 ADAMTS10 GTPBP2 GTF2I ERCC6 EMD NALCN IDH1 IDUA ATAD1 SUMF1 TMEM43 GDF5 DEAF1 FBN2 PNKD ERGIC1 CLIP2 ERCC2 COL1A2 ACTG2 IRF6 PTF1A GLB1 COL6A3 BMPR1B SMAD4 VANGL1 COL12A1 EZH2 CBS L1CAM ADAMTSL4 DKK1 AKT1 RNU4ATAC WFS1 PITX1 HPGD PCYT1A NSD1 FLII SETD5 EPG5 CYP27A1 GNPTG FGFR2 STING1 TNNT3 ASPA SH3PXD2B IDH2 TBL2 FHL1 GLRB RECQL4 SUZ12 LEMD3 TGDS GABRD PRRT2 GLRA1 MYBPC1 KMT2A AGA ALDH3A2 LTBP2 MFN2 COL1A1 NDE1 NOG ZMPSTE24 HDAC8 ACTB EED HP_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_LAXITY PAX2 GMPPB CCDC47 COL13A1 LIMK1 VAMP1 COL6A2 B4GALT7 FGFR1 CHST14 STRADA ARID1B COMP ALG2 SLC6A9 KISS1 ELN SRCAP HERC1 COL2A1 PORCN B3GALT6 B3GLCT CBL TUBB3 SPRY4 TACR3 NSD1 FGF17 PLOD1 YY1 RYR1 PROK2 DDRGK1 AP4M1 SLC5A7 SHOC2 SELENON TELO2 ADNP LONP1 ADAMTS2 DCHS1 FLNA DCPS RAB3GAP2 DLG4 PIGP TRMT10A FARSB NKAP GATAD2B GALNS IFT43 TCTN3 P3H1 MAP3K7 SLC2A10 MAN2B1 MLXIPL GLB1 GNRHR WDR11 COL6A3 EED PLAGL1 C12orf4 COL12A1 AGA MCTP2 KCNJ2 ANOS1 DDX3X TMEM165 FBLN5 COL6A1 C1R SLC39A13 TPM2 DSE RAI1 ATP6V0A2 HNRNPH2 TBR1 BAZ1B UBR1 TENT5A FBXL3 HACD1 HYMAI COL5A2 ITGA7 LRP5 COL1A1 LTBP4 NONO HS6ST1 GTF2IRD1 STAG1 ALG14 TRIP4 MED12 FGFR3 MSTO1 MRE11 MYO9A CUL4B CHST3 RFC2 ATP6V1A FLNB AGRN GATA1 ACTA1 FKBP10 SNAP25 SYT1 GTF2I KIF22 DPAGT1 EP300 TAC3 PPP1R15B SOBP PROKR2 SIN3A PDE4D ATP7A CLIP2 POGZ EXOC6B FMR1 SEC23A RMRP AP4S1 NPR2 GRIA3 AP4B1 NANS PUF60 TGFBR2 RAC1 CREBBP SLC25A1 TBL1XR1 DUSP6 PIK3R1 ORC1 WDR35 ZNF469 MYL2 PIK3CA B3GAT3 CHD7 SMAD3 AP4E1 SERPINF1 KDM6A COL5A1 CHAT SERPINH1 TBL2 TGDS ATP6V1E1 ERMARD ACAN SLC18A3 NOTCH2 CANT1 RET COL1A2 PIGS EFNB1 USP9X AHDC1 CDC45 XYLT1 TGFBR1 GNRH1 PYROXD1 TPM3 IARS1 GFPT1 FAT4 SKI FGF8 NSMF STAC3 SYT2 MAP3K20 IFT122 PIGG PMM2 KISS1R OTX2 HP_ABNORMALITY_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LIVER PLIN1 CTBP1 CASR BCS1L GLB1 GDF2 SDCCAG8 TCIRG1 MICOS13 RAG1 INSR IFT172 TSC2 C15orf41 IL17F BLNK KCNAB2 FAN1 PHKA2 ARHGAP31 SGSH TSFM STK11 KCNN4 RNASEH2C EPCAM GPC3 RRAS2 OSTM1 CASP10 CC2D2A PDGFRA BRIP1 MOGS SFTPC ASAH1 NDUFAF1 BOLA3 GPR35 LIPE MED25 RAG2 TYMP TTC37 KCNH1 LTBP3 MTRR RNASEH2A PEX1 WDR35 PIEZO1 RHAG TTC7A MLH3 FAH NDUFS3 MSH2 AUH IL6 POLG2 ATP7A ALDH7A1 SRD5A3 TRIM32 AXIN1 TCF4 AP1B1 ALG8 RUNX1 SERPINA1 SLC7A7 INS GBA ICOS SETBP1 CFI ALAS2 MYBPC3 SLC35A2 SLC37A4 MRPS16 RPGRIP1 DLD BSCL2 IFT43 PKLR MT-TW MRAS PEX12 CIDEC SLX4 PCCA PALB2 PEX10 DHFR OCLN PFKM CASK ACADVL COX8A BBS4 TREX1 STX11 AGA POU6F2 ABCG8 TBX19 DAXX HGSNAT CEP290 LIPA MARS1 LRP5 SLC25A20 FCGR2A PSMB8 FANCA ARSA CLCN7 MST1 TRAPPC11 NCF4 NDUFS6 ARSB CFTR LYST TPP2 NBAS FOXF1 UROD F5 AP1S1 XRCC2 TMEM67 ITCH WDR19 OFD1 UGT1A1 B2M WT1 PDGFRB HYMAI UNC13D SRP54 AGPAT2 TNNI3 TINF2 HSD17B4 DCLRE1C HSD3B7 NPHP1 ACAT1 ABCA1 PMM2 GTF2IRD1 MT-ND5 IFT80 COG8 UFD1 LETM1 SLC26A4 NDUFS8 NDUFAF3 FANCB SP110 TMEM126B HNRNPA2B1 NPC1 GPIHBP1 DPM3 TSHR RFXANK LPIN2 FANCM CD3D GPC1 SNX10 LDLR JAK2 ERCC6 POU1F1 COX6B1 TMEM199 CPT1A LHX4 GPC4 HNF1A HBB GANAB PKHD1 XRCC4 KRT8 TET2 COX14 ATP7B HFE SUMF1 DGUOK CD3E ALG13 EXTL3 NCF1 PIK3CA CLIP2 COG6 COMT DCDC2 WDPCP SLC4A1 HLA-DRB1 SLC5A5 RMRP GLIS3 PEX26 PLEKHM1 DIS3L2 LBR RAB27A TRMT5 NDUFS2 SMAD4 CALR NDUFV1 APC CFH PEX5 TFAM NEU1 NOTCH1 DMPK DUOX2 HIRA DKC1 BRCA1 ADAR UQCRC2 STEAP3 PCK1 PEX19 IFIH1 DOLK CPLX1 MRPL3 MSH6 PMS1 CTSA PKD1 WDR34 PRSS1 ACADM IGLL1 SOS1 LCAT STX1A HMGCS2 RNF43 TERT G6PD NSD2 MT-CYB FBP1 C8orf37 MKS1 BRCA2 IL2RB PEX2 SLC22A5 TP53 HMGCL MAD2L2 PAX4 IQCB1 C11orf95 FOXP3 IL12RB1 MT-TL1 PRKCD TALDO1 RAF1 TANGO2 ADAMTS13 DYNC2H1 BTK MT-ND3 PEX13 C1S NEK1 HK1 TERC NDUFB3 MT-ND6 RPS20 CDKN1C H19 FGA RIT1 PYGL CR2 IL2RA MYC ACAD9 CAVIN1 KCNQ1 NFKB2 CLDN1 PEPD MMUT GCK CTC1 IFT122 KRT6A NSMCE2 CDKN2B EPB42 NDUFS7 PEX16 SCNN1B HAVCR2 HBA2 RNU4ATAC DHCR7 KMT2E KIT SPTB AMACR IL17RC PSAP NAB2 SC5D DMD EIF2AK3 RECQL4 NGLY1 NPHP3 PMS2 PIGM A2ML1 POLG TACO1 LYRM4 ALMS1 ATRX GUSB CCDC28B SLCO2A1 EPB41 CPT2 APOE SDHD VHL GCDH B3GLCT CDKN1B PRDM16 BBS5 C4B NEUROG3 SEC63 HYOU1 NHP2 TNFRSF11A SDHC PRKCSH UROS ATPAF2 HESX1 COG4 ALDOB RREB1 DDRGK1 CD40LG IFT140 PEX11B MT-ND1 HNF1B SLC39A8 LMNA COX10 C1QBP AKR1D1 SMPD1 RFT1 LHX3 PEX3 PC NAGA TMEM216 BTNL2 TRIM37 SLC25A1 POMC MEN1 USP18 FBN1 NDUFS1 TNFRSF13C PDGFB ALG9 LIG4 GALNS NAGLU COA8 MAN2B1 CTSC KCNJ11 ANK1 TARS2 TGFBR2 WDR60 KRAS FLT1 SLC30A10 GPD1 ACADL NHLRC2 TRMU HADHA HNF4A FAS FANCD2 TPI1 TMEM165 PTPRC ZIC3 ADA ABCB4 SEMA4A COG2 BAZ1B CYP7B1 ABCD3 UQCRB PCSK9 NDUFS4 CTLA4 ASXL1 DYNC2LI1 EARS2 ASS1 GYPC GCGR MPL CDKN1A DUOXA2 TRIM28 GP1BB CTNNB1 TGFB1 HPD CLPB EFL1 BBS12 SBDS MVK PAX8 RAD51 GALT NPHP4 SFTPA2 JAG1 SLCO1B3 PSMB9 SLC17A5 IDUA NFKB1 IFT27 TPO INPP5E STAT1 BMPR1A HADHB XIAP GNPTAB ESCO2 MS4A1 TTC21B ATM NDUFA6 MIF AIRE SEC23B BBS7 UQCRFS1 MPV17 MEFV STXBP2 CBS AKT2 RFX5 CEP164 HMOX1 FH RAD51C ACSF3 DNAJC19 SH2D1A ABCB11 ALG1 NDUFA1 TBX1 CHD7 SLC25A15 BBS1 NDUFA11 CD96 IL12A TNFRSF13B CD28 MLH1 MPC1 RPGRIP1L JAM3 IL7R LZTR1 APPL1 MECP2 IL2RG PRPS1 TG PHKG2 DDOST MT-ND4 CNTNAP2 PARN EOGT TSC1 HMBS CTCF PRKAR1A SPTA1 GPI KRT18 VCP HELLPAR MT-TK FASLG GATA6 GABRD ADK SLC20A2 PEX6 NDUFB9 CSPP1 ITK KIF20A APOA1 MT-TV MPI CD27 DPAGT1 SLC25A19 CD46 TNFSF12 RRAS PLPBP LACC1 PDGFRL TRHR GALE TNFSF15 PNPLA2 NOS3 NUBPL SNX14 CCDC47 LIMK1 PDX1 CPOX FANCL CD79A SURF1 LYZ IL36RN ATP11C MT-ND2 KLF11 COG7 ARL6 ELN CTSK RELA DPM2 ERBB3 PCCB CEP55 TJP2 GBE1 RRM2B ABCC2 CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 MYRF MRPL44 HAMP FGFRL1 KLF1 PHKB CLCA4 SAA1 HADH CP ALG2 NDUFV2 TNNT2 HBG2 ERCC8 SPINK1 ACVRL1 TNFSF11 ATP8B1 PALLD HLA-B CDKN2A FADD GCLC NLRP3 NDUFB11 CYBC1 PRSS2 VPS33A CA2 MYD88 DOCK6 AGL GYS2 DZIP1L TIMMDC1 NDUFAF8 NDUFB10 IL21R TMEM70 ASL PLAGL1 CYP7A1 CORIN SLC40A1 AP3D1 AGGF1 LARS1 NOD2 ARVCF DLL4 BPGM KIAA0586 INVS COG1 B9D1 FOXRED1 LRPPRC INPPL1 SKI RBPJ VPS33B XPR1 HBG1 ABHD5 UBR1 NDUFAF4 FOS NR1H4 RNASEH2B IGF2 TRAF3IP1 PPARG RFXAP UBE2T DHDDS MET GLRX5 VPS45 SOS2 SLC2A1 CDKN2C NAGS PEX14 MYH9 CAV1 SPIB PRF1 RFC2 ERCC4 REST MMAA KRT16 NCF2 BBS10 MCCC1 STN1 ACOX1 PCK2 BBS9 SDHA GALK1 NLRP1 SCNN1G BBS2 XK FUCA1 SKIV2L JMJD1C COA3 G6PC FERMT3 GNAS STAT6 NEUROD1 LZTFL1 SCYL1 PKD2 UCP2 TRIP13 DNAJB11 NELFA SLC25A13 CTRC JAK3 MYPN IDS PCSK1 CCDC115 DPM1 CYBB HOXD13 TCTN2 GAA FECH ETFDH CARS2 BMP2 GNMT HJV PNPLA6 MKKS AHCY NDUFAF2 COX15 KCNQ1OT1 LMNB2 PIK3C2A POLR3A IL17RA SF3B1 MMEL1 PSMB4 CIITA ALG6 PIGS STOX1 COX20 IRF5 USP9X INTU MFN2 SPECC1L SEC24C IARS1 CTNS TMEM107 SAR1B FGFR2 TRMT10C XYLT1 SLC25A4 FLNC SON TNFRSF1B CEP120 TTC8 FANCE CYBA CBL SDHB SCO1 NDUFAF5 HNRNPA1 NOTCH2 PGM1 G6PC3 NOP10 RFWD3 SPRTN MT-TE IGF2R SCNN1A ALG11 CD19 PARS2 SLC39A4 LHX1 IGHM PET100 CPA1 GNE SLC29A3 SCARB2 GNS APOB TUFM DCTN4 BLK BLVRA CYC1 FANCF SAMHD1 NRAS MYORG CYP19A1 RHBDF2 HBA1 MCM4 CCND1 FARSB FANCG NPC2 TF RERE NRXN1 PTRH2 MLXIPL MT-ATP6 CYP27A1 FANCI SLC13A5 ABCC8 IKZF1 PIGA NKX2-5 APOC2 TFR2 KRIT1 RTEL1 EWSR1 ATP6AP1 SLC11A2 ETFA TNPO3 MT-TN NEK8 LRRC8A IER3IP1 SHPK ADAMTSL2 MRPS7 TRAF3IP2 RMND1 FAM111B TWNK BICC1 PROP1 ETFB ENG YARS2 RBCK1 GTF2I CD247 CEP83 FLI1 LIPT1 BMPER KIF23 ANKS6 TSHB MMAB KCNN3 RASA2 DNASE1L3 B9D2 IFNGR1 RASGRP1 ANTXR1 COG5 NPM1 SLCO1B1 LDLRAP1 POU2AF1 DNAJC21 COX4I2 SOX10 MUC5B VPS13A TKFC HEXB VIPAS39 ABCG5 PTPN3 CD79B GATA2 LPL LONP1 KRT17 SRSF2 PTPN11 IYD FANCC FBXL4 GFM1 GUCY2D TBL2 POLD1 TMPRSS6 RBM8A CEP19 CD70 CEL RFX6 TCF3 TNFRSF1A PIK3R1 IL1RN CDAN1 BBIP1 TMEM231 HPGD CD55 CASP8 TKT USB1 ZMPSTE24 KRT6B PTEN CLEC7A BTD KPTN BCHE ALDOA JAM2 AP3B1 FDX2 HP_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIRRHOSIS GALT NHP2 SFTPA2 JAG1 CBL SPIB BCS1L TERT LBR GPC1 TREX1 BSCL2 MET JAK2 AMACR ENG FAH ARHGAP31 INPP5E NOP10 HBB MPI NGLY1 POLG KRT8 GDF2 TET2 ATP7B IGF2R HFE DGUOK PPARG CC2D2A PIK3CA SFTPC COG6 SLC30A10 GBE1 NPM1 GPR35 WRAP53 TYMP TTC37 SKIV2L DCDC2 POU2AF1 TRMT5 SCARB2 SMAD4 MUC5B TFAM ACVRL1 NOTCH1 RRM2B DKC1 COG4 CD40LG SLC25A13 ABCB11 PHKG2 NPHP3 CTNNB1 AXIN1 AKR1D1 TCF4 RUNX1 MPV17 SERPINA1 ITCH KRT18 TERC IL12A CCDC115 RPGRIP1L SRSF2 FARSB FECH HSD3B7 ALMS1 IFT43 BMP2 DOCK6 TP53 HJV PEX1 TMEM67 PARN EOGT IL21R ALDOB TINF2 IL12RB1 SLC40A1 TALDO1 SMPD1 CAV1 AP1S1 MARS1 APOE DLL4 PIGA MMEL1 AGPAT2 MST1 LIPA ABCB4 PHKA2 PYGL AP1B1 IRF5 TFR2 UROD RBPJ F5 SLC7A7 RTEL1 CYP7B1 ATP6AP1 FOS ABHD5 NR1H4 ASXL1 TNPO3 CASP8 HAMP USB1 ASS1 PDGFRL GLRX5 GBA CTC1 TNFSF15 APC ATP8B1 CAVIN1 HP_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FIBROSIS NPHP4 PLIN1 SPIB SDCCAG8 PKHD1 GPC1 TMEM67 IFT172 ARHGAP31 INPP5E SLC25A13 IFT27 MPI IFT80 NPHP3 BBS10 ANKS6 ARL6 OFD1 DGUOK WDR35 CC2D2A BBS9 CCDC28B HJV CEP55 B9D2 DCDC2 BBS2 WDPCP GPR35 TTC37 HAMP BBS7 INSR SKIV2L GLIS3 BBS5 POU2AF1 ABCB4 NHP2 SCYL1 LZTFL1 CEP164 NOTCH1 IFT140 TRIM32 DOLK TCF4 FADD TMEM216 WDR34 BBS1 ALG9 IL12A CEP290 CSPP1 RPGRIP1L TCTN2 RPGRIP1 MKS1 DOCK6 PHKG2 PEX1 PNPLA6 PTRH2 AGL DZIP1L DLL4 IQCB1 MKKS EOGT WDR60 IL12RB1 ASL GPD1 BBS4 SLC40A1 C8orf37 TALDO1 NPHP1 DYNC2H1 AP1S1 NEK1 INVS MMEL1 MST1 B9D1 NOP10 TRAF3IP1 PHKA2 PYGL IRF5 RBPJ BBIP1 ABCD3 TMEM231 TNPO3 TMEM107 WDR19 NEK8 MET TNFSF15 IFT122 CTNNB1 PMM2 CYP7B1 BBS12 LIPA ASAH1 TTC8 HP_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTASIS CASR UGT1A1 KMT2E BCS1L LBR NOTCH2 SPTB C15orf41 AMACR SC5D CPOX IFT172 EPB42 LYZ PEX16 ATP11C KCNN4 COG7 APOA1 TREX1 PARS2 TBX19 PRKAR1A HADHA EPB41 TJP2 ABCC2 GPR35 RNU4ATAC HNF4A CPA1 CDKN1B INSR NEUROG3 SAA1 PEX1 ABCB4 PEX5 PIEZO1 RHAG HESX1 ALDOB HBG2 ATP7A IFT140 ABCB11 PEX6 BLVRA SPINK1 HNF1B SAMHD1 PEX26 AKR1D1 NPHP3 ATP8B1 PALLD TCF4 AP1B1 CDKN2A LHX3 MPV17 GCLC POMC MEN1 PEX19 PRSS2 TTC37 FARSB NPC2 HSD3B7 PKLR PALB2 PEX10 DHFR OCLN PFKM ANK1 CASK CLDN1 KRAS SP110 ACADVL SMAD4 CYP7A1 ACADL TPI1 BPGM MST1 PEX12 NKX2-5 SPTA1 CFTR NBAS VPS33B F5 CYP7B1 ABCD3 SLCO1B3 ATP6AP1 AP1S1 KRT8 UBR1 NR1H4 HFE B2M ETFA TNPO3 RNASEH2B TRAF3IP1 EARS2 NEK8 GYPC GLRX5 IER3IP1 SHPK CDKN1A HSD17B4 DUOXA2 SLC25A13 SLC2A1 SLC26A4 CDKN2C PAX8 NPC1 SLC4A1 TSHR PEX14 JAG1 SPIB PRF1 GPC1 PROP1 PEX11B ETFB POU1F1 IL2RG LHX4 HBB TPO CEP83 FLI1 ANKS6 TSHB DGUOK ATP7B DHCR7 GALK1 COG6 SLC30A10 DCDC2 SLCO1B1 SLC5A5 POLG2 SEC23B GLIS3 POU2AF1 RAB27A COX4I2 TFAM FH DUOX2 BRCA1 ADAR TP53 IFIH1 CTRC VIPAS39 PTPN3 PRSS1 PCSK1 IL12A WDR35 CCDC115 SERPINA1 LPL G6PD CYP27A1 IYD BRCA2 ETFDH PRPS1 PEX2 TG HMGCL PHKG2 GFM1 SMPD1 IL12RB1 CTCF ADAMTS13 GPI TMPRSS6 RNASEH2C PEX13 KRT18 HK1 RFX6 ADK MMEL1 JAK2 GALT LIPA PHKA2 FGA IRF5 RNASEH2A CDAN1 LYST PEX3 DPAGT1 TRMU EIF2AK3 PEPD HADHB ALG8 TRHR GALE TNFSF15 CDKN2B ALDOA ASAH1 HP_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FAILURE PEX14 PORCN JAG1 SPIB PEX11B FAH SC5D IFT172 PEX19 INPP5E NOP10 MPI PEX16 GDF2 ATP7B OSTM1 DGUOK ATRX PCK2 CPT2 POLG HADHA TJP2 GBE1 NPM1 GPR35 WRAP53 ALG1 ALG9 POLG2 SLC25A15 POU2AF1 HADH EPM2A NHLRC1 PEX1 COQ2 SMAD4 SCYL1 VPS13A PEX5 TFAM ACVRL1 FH GBA PCK1 COG4 ALDOB CACNA1S BTNL2 PEX6 MT-ND1 CYC1 SH2D1A PEX26 AKR1D1 OTC HLA-B CC2D2A TCF4 MPV17 ITCH TERC IL12A CCDC115 SERPINA1 MT-TT TTC37 TERT BSCL2 HSD3B7 ALMS1 TMEM67 PEX10 MT-ND4 GFM1 MEFV PARN IL21R IL12RB1 MT-TL1 SP110 MT-ATP6 RYR1 SMPD1 DLD DAXX MT-ND3 CAV1 IKZF1 PEX13 LIPA RPGRIP1L LARS1 MT-TK CEP164 MT-TW SLC25A20 MOGS CPT1A MT-ND6 MMEL1 MT-ND2 JAK2 MST1 PEX12 GALT NBAS PTPN22 ALG6 IRF5 XIAP ACAD9 NHP2 F5 SLC7A7 RTEL1 CYP7B1 ABCD3 HLA-DRB1 MT-TV UBR1 NDUFS4 PEX3 FOS TRMU NR1H4 EIF2AK3 TNPO3 ENG USB1 AGPAT2 HADHB TINF2 CTC1 TNFSF15 F13A1 IFT122 PEX2 MRPS7 AMACR MT-ND5 DKC1 PPARG CAVIN1 F13B FECH NPC1 ALG8 ASAH1 HP_HEPATOCELLULAR_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_CARCINOMA SLC37A4 JAG1 SPIB KRAS BMP2 MET TP53 JAK2 FAH SLC25A13 AHCY HBB SPRTN PMS2 TGFBR2 BMPR1A IL12RB1 FASLG HMBS EPCAM ATP7B IGF2R HFE CASP10 FAS IGF2 PIK3CA TJP2 RASGRP1 MMEL1 RPS20 GPR35 MST1 PYGL IRF5 SEMA4A G6PC POU2AF1 UROD MLH3 MSH2 F5 TNPO3 CASP8 ABCB11 MSH6 CTNNB1 PDGFRL PMS1 TNFSF15 AXIN1 APC PRKCD TCF4 SERPINA1 FAN1 IL12A MLH1 HP_MACROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROVESICULAR_HEPATIC_STEATOSIS MPV17 COG6 TRMU EARS2 NDUFAF1 VPS33A CYP7A1 RRM2B CPT2 POLG TYMP HP_HEPATOCELLULAR_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_NECROSIS BCS1L DGUOK ACADL COX15 NHLRC2 SURF1 ACADVL COX10 SDHA HP_INTRAHEPATIC_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAHEPATIC_CHOLESTASIS ABCB4 SLC25A13 ABCB11 ATP8B1 TMPRSS6 AKR1D1 HSD3B7 CYP7B1 AP1S1 AP1B1 AMACR SC5D TJP2 ASAH1 HP_HEPATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_CYSTS PKD2 OFD1 NPHP3 PKHD1 BICC1 EXTL3 IFT122 PKD1 SEC63 LRP5 TSC2 ALG8 GANAB TTC21B DZIP1L WDR19 DNAJB11 TSC1 HP_BILE_DUCT_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILE_DUCT_PROLIFERATION ABCB4 NPHP3 CEP290 PHKG2 RPGRIP1L FARSB MKS1 TMEM67 GPC1 HSD17B4 POLG TMEM216 DCDC2 CC2D2A WDR35 HP_MICRONODULAR_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRONODULAR_CIRRHOSIS CASP8 IGF2R TALDO1 TREX1 DGUOK CTNNB1 PDGFRL KRT18 AXIN1 APC MET TP53 POLG PIK3CA KRT8 COG6 ABHD5 SLC30A10 NGLY1 HP_MICROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROVESICULAR_HEPATIC_STEATOSIS BCS1L MRPL44 LRPPRC MPV17 DNAJC19 TFAM TRMU NGLY1 ACAD9 CARS2 POLG HP_X_LINKED_RECESSIVE_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_RECESSIVE_INHERITANCE SLC6A8 THOC2 CHRDL1 PHF6 PTCHD1 LRAT KLHL15 DLG3 PHKA2 ARX ATP11C CLCN5 AMMECR1 OCRL POLA1 MED12 OTC MBTPS2 PDE6G STS ZIC3 SMC1A EDA FTSJ1 BTK OPN1MW ROM1 IGSF1 DMD TSR2 GATA1 CD40LG USP9X IKBKG FHL1 UBE2A RPGR LAGE3 PHKA1 FLNA NR0B1 CLRN1 VMA21 ABCD1 BCORL1 PHF8 IGF2 OGT MAGED2 PGK1 SH3KBP1 KDM5C GJB2 MSN NKAP MAMLD1 ZC4H2 FGF16 MECP2 CASK TAZ AVPR2 OFD1 FANCB PIGA AIPL1 ATRX AIFM1 PLP1 GLA HCFC1 BRWD3 EBP UPF3B AR XIAP RBP3 TAF1 ATP6AP1 IL2RG GPR179 GJB1 HS6ST2 GK RBMX TRAPPC2 IL1RAPL1 SSR4 NEXMIF L1CAM BCAP31 COL4A6 GJB6 PRPS1 RBM10 RPL10 CUL4B FOXP3 ATP2B3 CRX CLCN4 GPC4 NYX C8orf37 NONO MID2 RS1 MID1 LAS1L WAS NSDHL KIF4A ALG13 FRMPD4 ANOS1 OPHN1 POF1B ATP7A GRIA3 NDUFA1 EMD IGBP1 ABCA4 SLC9A7 F8 TMLHE RLIM DKC1 USP27X PQBP1 SMS SH2D1A IDS OPN1LW NDP SYN1 TIMM8A RAB39B G6PD CYBB F9 ARSL FGD1 ALAS2 ARHGEF9 PAK3 TSPAN7 ATP6AP2 CACNA1F NAA10 CFP SYP BGN FRMD7 IQSEC2 DDX3X HPRT1 CNGA1 CCDC22 POU3F4 EIF2S3 MAOA AFF2 ARL6 GPRASP2 UBA1 GPC3 TEX11 CLIC2 AP1S2 MTM1 ABCB7 DNAAF6 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND BSCL2 ALS2 PDK3 CHRND FGFR3 SCN4A RAPSN GARS1 POLG NEFL TRPV4 HOXA13 GDAP1 HARS1 MUSK TIA1 HINT1 SLC39A13 KLHL9 CHRNE FXN NEB REEP1 TK2 SLC52A3 DCTN1 MORC2 TBX5 SQSTM1 MYH7 PNPLA2 CHRNB1 VCP RYR1 SALL4 DOK7 CAV3 AAAS COL13A1 STIM1 GMPPA NGLY1 MFN2 FLNC ACTA1 SPG11 KANSL1 BICD2 LDB3 AK9 FGFR2 RPL11 COLQ LAMB2 FGF10 PLOD3 GNE CHRNA1 FBXO38 SLC25A21 LRP4 AGRN TRAPPC11 DYSF HP_X_LINKED_DOMINANT_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_DOMINANT_INHERITANCE G6PD PHEX HDAC8 FLNA CLCN4 FHL1 IKBKG DIAPH2 KDM6A RS1 CASK CCNQ LAS1L EDA HCCS HDAC6 OFD1 FMR1 ALG13 BCOR RNF113A SMPX NAA10 AMELX PORCN SYP AMER1 SMC1A NHS GDI1 COX7B EFNB1 ALAS2 GPR101 PLS3 FRMD7 LAMP2 USP9X IQSEC2 HNRNPH2 DDX3X PDK3 WDR45 SLC35A2 CDKL5 NDUFS4 NDUFB11 SRY NSDHL GJB1 SLC9A6 GK MECP2 CHM PDHA1 NEXMIF HSD17B10 COL4A5 EBP RPS6KA3 UBQLN2 ATRX SYN1 ACSL4 SLC16A2 HP_HETEROGENEOUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROGENEOUS NLGN4X WT1 RAD54L DRD3 SCO1 SH3TC2 NEFH KCNJ1 TCIRG1 MET KRT17 RAD51 CACNA1F NQO2 POMT1 NPHP1 MT-ND1 CCM2 PSEN1 KCNQ1 CHI3L1 DAOA SURF1 SAMD12 KRT81 SCN5A FKRP TACO1 NEFL IGF2R PLAU CFTR GCH1 NEB CC2D2A SIX3 KRAS CLCNKA H19 NLGN3 MT-ATP6 PET100 EGR2 IRF6 PRPH EDA MPZ EPM2A MT-ND4 ADGRV1 FKTN TPM3 PMP22 TPM2 NSDHL PTCH1 COMP APOL2 ERCC8 KCNJ18 MTHFR MPO EDNRB ACVRL1 TSC2 GPC4 COL17A1 COX10 AXIN1 DNM2 MT-CO3 VSX1 RB1CC1 AAGAB MRPS16 EDARADD JUP POLG NPC2 HADH COA8 KIF1B BRCA2 CRELD1 POMGNT1 COX8A RPGRIP1L KCNE2 SFTPB SPTA1 MECP2 EYA1 FGFR1 IL6 LARGE1 MT-CYB EDAR FBLN5 BCS1L RP1 INSR ADCY10 SOX10 ESR1 GAD1 LAMB3 ABCB4 DNAI1 USH1C KCNE1 DHH SYN2 LAMC2 PALB2 KRIT1 SELENON EDN3 MITF CASP8 KRT86 AQP2 SLC16A1 CHAT MTMR2 ATL1 CLCNKB POMT2 HFE TNFRSF11A PRKAG2 MT-TN SLC25A4 COL4A5 JPH1 NHLRC1 DSG2 PRKAR1A LMNA PEX1 MBTPS2 AVPR2 MYH7 APOL4 ELN MT-ND4L SLC22A18 BRCA1 NPC1 HSPB1 ALG10B MLPH PTPN22 TMEM216 IQCB1 COL4A4 LAMA3 LRP5 COX6B1 TP53 FGD4 ZMPSTE24 MID1 INPP5E IFNG FOXC1 PHB COX14 MAP2K1 MCCC1 EP300 CACNA1A MT-ND5 COMT PIK3CA SDHA AKT1 COL4A3 HTR2A SFTPC CACNB4 HCRT IGF2 COA3 XRCC3 BARD1 CHEK2 CDH1 CACNA1S ERCC6 YARS1 MYO7A AHI1 COX15 HLA-B NOS3 SIX1 SOD1 TGFBR2 APP A2M CTNNB1 BRAF CREBBP ATP1A2 DYSF FRZB ENAM ORC1 MATN3 GCK HPS1 COL9A3 ITPR3 MT-ND6 PTPN11 WNT3 KCNH2 ACTA1 GDAP1 RYR1 LITAF BRIP1 PPM1D MSX2 HMMR NOD2 ADAMTS13 CTSC TMEM67 GDF6 SLC12A1 SBF2 SNRPN CAV3 HNF1A GPC3 PTCH2 CYP1B1 CHRNA2 AGPAT2 FGF14 GABRG2 COX20 IHH FRMD7 PRX ITGB4 DSP KRT16 HSPB8 SLC25A38 TGFBR1 BSCL2 NPHP4 MAPT KRT83 MT-ND2 ATM ABCC8 KIF7 ANK2 CENPJ ABCA3 SNAI2 PDGFRL GLUD1 KCNJ11 KCNQ2 APC MCCC2 RTN4R COL9A2 SMAD7 TGFB3 TNNI3 BSND SUFU CLCN7 PITX2 DCTN1 HP_MULTIFACTORIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFACTORIAL_INHERITANCE CFH NLGN4X BCR SLITRK1 GDF3 SCN5A PDCD1 TNF TP53 NOS3 NR0B2 GJB6 SMCHD1 GJB2 AGRP ECE1 NBN GDF6 SHANK3 NLRP1 PAX4 ABCG8 AGTR1 IL13 CST3 A2ML1 NOD2 SCGB3A2 POMC BMP4 MECP2 ENPP1 CCL11 NEK1 ADRB2 SNRPN ADRB3 SDC3 NLGN3 BAX GJB3 IRF6 UCP3 BRCA2 HLA-G PTGIS PPARG ADD1 STOX1 AGT TAL2 HLA-DRB1 DYNC2H1 APOL1 HLA-B NUP214 IL6 HNMT COL2A1 SERPINH1 GNB3 CYP3A5 HLA-C MUC7 FRZB BRCA1 HLA-DQB1 GHRL CARTPT GNB1 TAL1 PLA2G7 FLT3 ALOX5 GJA1 HP_MITOCHONDRIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_INHERITANCE MT-ND6 MT-TL1 SCO1 MT-ND5 TRMU MT-TW MT-CYB COX6B1 MT-ND1 COA8 MT-TV MT-CO2 MT-CO1 MT-TF SURF1 COX14 BCS1L TACO1 COX8A MT-TP SDHA MT-ATP6 PET100 COX10 MT-TC COX20 COA3 MT-ND4 NDUFS4 MT-TS2 MT-TQ MT-TK COX15 MT-ND2 CHKB MT-TN MT-CO3 MT-ND4L MT-TI MT-TT FDX2 HP_SOMATIC_MUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MUTATION WT1 STK11 RAD54L SSX1 CTNNB1 TERT FASLG MET RAD51 ERBB2 TSC1 NQO2 GATA2 KRAS MAP3K8 IGF2R NPM1 RARA SH3GL1 CHEK2 PDGFRA CDH1 H19 PDCD10 AURKA PIK3CA MSH6 HRAS PIGT PIGA ABL1 LPP DLC1 SMO CALR ASXL1 AKT1 CEBPA NRAS RHOA FGFR3 TET2 SMARCB1 FLCN CREB1 GPC4 AXIN1 LZTS1 FOXO1 BRCA2 MSH3 RB1CC1 SH2B3 ERCC6 PTEN MLH3 TP53 KIF1B RB1 ASCC1 JAK2 THPO CDC73 MXI1 SRGAP1 BUB1 SSX2 PDGFRL ESR1 FGFR1 CHIC2 AXIN2 BCL10 TFE3 PALB2 CASP8 TLR2 MINPP1 DICER1 RNF6 APC KLF6 CBL NR4A3 TAF15 CBFB ARHGAP26 BAX BCR NF2 GNAS IDH1 SLC22A18 ADA ASPSCR1 BRCA1 BRAF NUP214 IRF1 EGFR PICALM PTPRJ ZFHX3 CTHRC1 DCC CYP2A6 PTPN11 KIT PHB MCC TSC2 MPL CASP10 AR ETV6 RPS14 IGF2 FGFR2 PAX7 XRCC3 DNMT3A BARD1 ARMC5 C1GALT1C1 PAX3 RUNX1 PAX6 PTPN12 AIP PRKN PLA2G2A FLT3 BUB1B EP300 NEK9 RAD54B NUMA1 BRIP1 PPM1D SMAD4 HMMR WWOX PPP2R1B MAD1L1 GPC3 CCND1 SF3B1 POU6F2 MYC MLLT10 SLC35A2 PLAG1 ATM MTOR NF1 MUTYH ODC1 EWSR1 LIG4 OPCML MSR1 SRC TGFBR2 HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE TRIM32 SGCB MYL2 PLIN1 TTN DYSF MATR3 TCAP POMT2 ANO5 FLNC CIDEC SGCA POMGNT2 MTMR14 FKRP SACS MYH7 ACTA1 FBN2 SGCG LMNA HINT1 CRPPA KLHL9 PMP22 SLC25A1 POMT1 DNM2 LTBP4 FHL1 CAPN3 CHCHD10 POMGNT1 DAG1 GMPPB TPM2 DMD WASHC5 FKTN MAP3K20 POMK BIN1 LIMS2 CAV3 AR AAAS GMPPA KCNA1 MYF6 TRPV4 TPM3 LAMA2 HACD1 PLEC FRG1 ITGA7 PPARG SELENON DES TRAPPC11 RYR1 SGCD DPM3 LARGE1 HP_HEPATOSPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOSPLENOMEGALY SNX14 LPL IDUA VPS33A IL7R CAV1 RNU4ATAC CA2 CD3D BRCA2 JAK2 GNE PEX2 PALB2 SC5D MAN2B1 HBB CD247 STAT1 KRAS RNASEH2C SP110 STEAP3 TREX1 TALDO1 SMAD4 CD3E ABCA1 RBM8A GNPTAB ZAP70 IFNGR1 RAG2 COG1 GBE1 COG5 CLCN7 GPR35 SLC4A1 TCIRG1 MST1 XK SLC29A3 COG4 RAG1 PLEKHM1 RNASEH2A IL2RA STXBP2 FERMT3 COG2 SLC7A7 SCYL1 CALR MPL BRCA1 ADAR GBA TP53 RNASEH2B IFIH1 NPHP3 HEXB UNC13D FGFR2 TNFSF11 SAMHD1 JAK3 GLRX5 KPTN CTSA PALLD SLC25A13 TCF4 CDKN2A GCLC ITCH SLC2A1 HAVCR2 LIPA TET2 PSAP ASAH1 CCDC115 LBR ALG9 HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE TRIM32 SGCB CCDC8 GMPPB SGCD TWNK CAPN3 DYSF MATR3 ANO5 SGCA NEB FKRP ACTA1 PLXND1 RAF1 MYMK LMNA ALG2 EMD CRPPA DPAGT1 FHL1 TMEM43 KBTBD13 TPM3 PTPN11 CUL7 ALX3 RRM2B TBX5 TK2 SQSTM1 CHRNB1 SYNE2 VCP MYH7 SALL4 BICD2 C19orf12 MYPN CHRNE TRPV4 TPM2 LGI4 EYA1 DMPK KLHL41 FRG1 AK9 SPEG SELENON PAX1 TBX3 COLQ TNPO3 GYG1 BIN1 POGLUT1 LRP4 MYH2 PAX3 DNAJB6 SYNE1 CHRND OBSL1 SCN4A MYL2 RAPSN POLG SMCHD1 SEPTIN9 TRPS1 MUSK TTN COL12A1 FLNB BRAF RBM8A KCNJ2 RYR1 MT-TE PNPLA2 FLNA DOK7 POLG2 COL13A1 SGCG PSAP GALC POMT2 ABHD5 PYROXD1 HACD1 GFPT1 ALX1 ITGA7 ATP6V0A2 MAP3K20 LAMB2 DNM1L GNE HNRNPDL MYOT REV3L CHRNA1 SLC25A4 AGRN ALG14 OPA1 HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE KLHL9 MTMR14 MYF6 MYH7 DNM2 RYR1 BIN1 GNE HNRNPDL BSCL2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS TRIM32 SGCB DARS2 PLIN1 TTN SGCD DYSF MATR3 ANO5 SGCA POMGNT2 FKRP ACTA1 FBN2 LMNA EMD VAMP1 CRPPA KLHL9 PMP22 DNM2 FHL1 CHCHD10 TMEM43 POMGNT1 ATP13A2 REEP1 POMT1 GMPPB WASHC5 FKTN POMK SYNE2 VCP MYH7 BSCL2 LIMS2 CAV3 CLCN1 MYF6 TRPV4 LAMA2 DMD DKK1 FRG1 POMT2 KIF1A SRY SELENON DES RYR1 SYNE1 MYL2 TCAP MT-ATP6 FLNC CIDEC SPAST MTMR14 SACS SGCG HINT1 DNAJC6 SLC25A1 LTBP4 CAPN3 DAG1 LMX1B TPM2 KIF5A MAP3K20 BIN1 DYNC1H1 AR AAAS ANO10 GMPPA KCNA1 TPM3 PODXL HACD1 LDB3 PLEC ITGA7 PPARG SYNJ1 ADSS1 GNE HNRNPDL TRAPPC11 ZFYVE26 DPM3 LARGE1 HP_ABNORMAL_ABDOMEN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ABDOMEN_MORPHOLOGY ATRX TCIRG1 RAG1 INSR C15orf41 BACH2 PHKA2 ARHGAP31 SGSH MVK PTEN TSFM KCNN4 RNASEH2C GPC3 RRAS2 MEFV OSTM1 CASP10 CC2D2A PDGFRA RUNX1 MOGS ASAH1 NDUFAF1 BOLA3 GPR35 RAG2 TTC37 KCNH1 LTBP3 RNASEH2A PEX1 LAT CCR1 PIEZO1 FAH NDUFS3 AUH IL6 CCND1 ALDH7A1 TCF4 MPIG6B SLC7A7 CALR GBA ICOS ALAS2 MYBPC3 SLC37A4 TFAP2A DLD BSCL2 PKLR BCL2 MT-TW PHYH MRAS CIDEC PCCA PALB2 GP1BA PEX10 DHFR OCLN CASK GLB1 ACADVL COX8A TREX1 THPO STX11 AGA DAXX HGSNAT C4A BUB3 LIPA MARS1 SLC25A20 PSMB8 CLCN7 MST1 PEX12 TRAPPC11 NCF4 NDUFS6 ARSB LYST TPP2 F5 ITCH MPL B2M ABCA12 PDGFRB HYMAI UNC13D AGPAT2 TNNI3 TINF2 RHAG HSD17B4 DCLRE1C HSD3B7 ACAT1 ABCA1 PMM2 MT-ND5 UFD1 NDUFS8 NDUFAF3 FAS TMEM126B NPC1 GPIHBP1 CEP57 LPIN2 CD3D GPC1 SNX10 PIK3R1 ERCC6 COX6B1 CPT1A GPC4 HNF1A HBB XRCC4 TET2 COX14 ATP7B DIS3L2 SUMF1 DGUOK CD3E ALG13 EXTL3 NCF1 COG6 COMT DCDC2 STAT4 SLC4A1 HLA-DRB1 RMRP GLIS3 PEX26 IL23R PLEKHM1 LBR RAB27A ERAP1 NDUFS2 NDUFV1 PEX5 TFAM NEU1 NOTCH1 HIRA BRCA1 ADAR STEAP3 PCK1 PEX19 TNFRSF4 AKT1 IFIH1 DOLK MRPL3 OTC CTSA SH2B3 ACADM BCR IRAK1 SOS1 LCAT STX1A HMGCS2 TERT G6PD HLA-B MT-CYB FBP1 MKS1 BRCA2 IL2RB PEX2 SLC22A5 HMGCL FOXP3 IL12RB1 MT-TL1 PRKCD TALDO1 RAF1 MT-ND3 PEX13 HK1 NDUFB3 MT-ND6 CDKN1C FGA RIT1 PYGL CR2 IL2RA CAVIN1 KCNQ1 NFKB2 CLDN1 PEPD TAPT1 MMUT ALG8 CTC1 IFT122 KRT6A SMAD3 EPB42 NDUFS7 HAVCR2 HBA2 NLRP12 RNU4ATAC AMACR PSAP NAB2 SC5D IFT172 EIF2AK3 NGLY1 PEX16 PIGM A2ML1 TACO1 CASR ALMS1 GUSB SLCO2A1 EPB41 CPT2 APOE GCDH GFI1B MRPS22 SEC63 HYOU1 TNFRSF11A PRKCSH UROS ATPAF2 FSHR COG4 ALDOB RREB1 DDRGK1 CD40LG IFT140 MT-ND1 NPHP3 COX10 C1QBP AKR1D1 SMPD1 RFT1 PEX3 PC NAGA BTNL2 ABCG8 TRIM37 SLC25A1 USP18 MSH2 FBN1 NDUFS1 TNFRSF13C PDGFB ALG9 LIG4 GALNS NAGLU COA8 LMNA MAN2B1 RASGRP1 KCNJ11 ANK1 KRAS SLC30A10 SP110 GPD1 ACADL NHLRC2 TRMU HADHA HNF4A TPI1 TMEM165 PTPRC ADA ABCB4 COG2 CYP7B1 ABCD3 UQCRB NDUFS4 CTLA4 ASXL1 SAMD9L LRP5 DYNC2LI1 EARS2 ASS1 GYPC GP1BB CTNNB1 TGFB1 EFL1 SBDS GALT PEX11B PSMB9 SLC17A5 IDUA NFKB1 STAT1 XIAP MUSK POLG GNPTAB MS4A1 BRAF FAM111A NDUFA6 MIF SEC23B STXBP2 CBS NBEAL2 AKT2 PIK3CA HMOX1 ADAMTS3 SH2D1A ABCB11 ALG1 NDUFA1 TBX1 CHD7 SLC25A15 NDUFA11 CD96 IL12A TNFRSF13B CD28 MPC1 RPGRIP1L JAM3 IL7R LZTR1 IL2RG PHKG2 JAK2 MT-ND4 PARN EOGT ARL6IP6 PIK3CD SPTA1 GPI MT-TK FASLG SLC20A2 PEX6 NDUFB9 ITK KIF20A APOA1 MT-TV CD27 SLC25A19 CASP8 TNFSF12 RRAS PLPBP LACC1 GALE TNFSF15 MCOLN1 PNPLA2 FAT4 SLC34A3 NUBPL SNX14 CCDC47 CPOX LYZ MT-ND2 COG7 PEX7 IL12A-AS1 CTSK SPTB DPM2 PRKAR1A ERBB3 PCCB GBE1 CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 KLF1 PHKB CLCA4 SAA1 ALG2 NDUFV2 TNNT2 KLRC4 HBG2 ERCC8 GATA1 TNFSF11 ATP8B1 LIPE PALLD CDKN2A MPV17 TP53 GCLC NLRP3 NDUFB11 CYBC1 VPS33A CA2 MYD88 DOCK6 AGL TIMMDC1 NDUFAF8 NDUFB10 TMEM70 ASL PLAGL1 SMAD4 AP3D1 AGGF1 ATM LARS1 NOD2 ARVCF DLL4 BPGM COG1 FOXRED1 INPPL1 RBPJ XPR1 HBG1 ABHD5 NDUFAF4 FOS HFE SPP1 RNASEH2B IGF2 PPARG DHDDS MET GLRX5 VPS45 USB1 SOS2 SLC2A1 NAGS PEX14 CAV1 SPIB PRF1 GSN NLRC4 MMAA KRT16 TSC1 IRF8 NCF2 SRP54 DHCR24 ERCC4 ACOX1 NLRP1 XK FUCA1 SKIV2L JMJD1C COA3 G6PC FERMT3 STAT6 SCYL1 UCP2 JAK3 CARD11 MYPN IDS BUB1B WDR35 CCDC115 DPM1 CYBB GAA ETFDH BMP2 GNMT PLVAP HJV NDUFAF2 KCNQ1OT1 CFAP410 PIK3C2A SF3B1 MSH6 CCBE1 PMS2 MMEL1 BUB1 PSMB4 PIGS COX20 IRF5 TMEM67 UMPS MFN2 SEC24C CTNS HAMP ABL1 FGFR2 XYLT1 FLNC TNFRSF1B PRKAG2 CYBA CBL SCO1 NDUFAF5 G6PC3 SLC25A13 NOP10 MPI MLH1 RPSA MT-TE CD19 SLC39A4 TTC7A PET100 GNE SLC29A3 SCARB2 GNS TUFM DCTN4 SAMHD1 TRIP13 CFTR NRAS MYORG BCL6 RHBDF2 HBA1 MCM4 FARSB NPC2 NIPBL PTRH2 KIF1B COL3A1 MT-ATP6 SLC13A5 TNFRSF1A ABCC8 UBAC2 PIGA ABCC2 APOC2 RTEL1 EWSR1 ATP6AP1 ETFA TNPO3 PNP MT-TN NEK8 ADAMTSL2 TSC2 TLR4 MRPS7 RMND1 FAM111B FMO3 NOTCH2 PKHD1 ETFB INPP5E YARS2 RBCK1 CD247 FLI1 MMAB KCNN3 RASA2 DNASE1L3 IL10 IFNGR1 ANTXR1 COG5 NPM1 POLG2 INHBA POU2AF1 DNAJC21 COX4I2 SOX10 VPS13A WT1 TKFC HEXB GATA2 TERC SERPINA1 LPL KRT17 SRSF2 PTPN11 GFM1 GUCY2D POLD1 SOX18 RBM8A CD70 IL1RN CDAN1 NHP2 HPGD CD55 TKT KRT6B TBXAS1 BTD KPTN DKC1 ALDOA JAM2 AP3B1 FDX2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH FHL1 DYNC1H1 LMNA ADSS1 SGCD TMEM43 ANO5 REEP1 HNRNPDL LMX1B SYNE2 EMD TRPV4 RYR1 MYH7 SYNE1 HP_SOMATIC_MOSAICISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MOSAICISM NRAS ADA SMO RHOA DICER1 HRAS KRAS FGFR1 SLC35A2 GNAS 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 TRIM32 CCDC8 GMPPB SGCD CAPN3 NEB FKRP TRPV4 GDAP1 MYMK LMNA TIA1 ALG2 CRPPA KLHL9 DNM2 FHL1 BSCL2 REEP1 RRM2B TBX5 TK2 CHRNB1 SYNE2 SALL4 BICD2 CAV3 MATR3 C19orf12 ANO5 MYF6 MFN2 TPM2 LGI4 SPG11 EYA1 KLHL41 KANSL1 AK9 SPEG SELENON TBX3 COLQ GARS1 LIPE TNPO3 POGLUT1 SYNE1 MYH7 FGFR3 SCN4A RAPSN HK1 TCAP HSPB1 SEPTIN9 HOXA13 CHCHD10 MUSK CHRNE FXN TTN COL12A1 VPS37A KCNJ2 DYSF SLC39A13 LMX1B CYP7B1 DCTN1 MORC2 KIF5A PNPLA2 BIN1 RYR1 POLG ACTA1 PTPN11 FLNA OBSL1 DOK7 POLG2 AAAS COL13A1 SGCG GALC KY FLNC ABHD5 HACD1 LDB3 PLEC ITGA7 FGFR2 ADSS1 FGF10 PLOD3 GNE HNRNPDL MYOT REV3L CHRNA1 ALG14 ALS2 SGCB PDK3 TWNK SGCA NEFL PLXND1 RAF1 HARS1 EMD DPAGT1 TMEM43 KBTBD13 TPM3 CUL7 ALX3 SQSTM1 VCP NEFH INF2 STIM1 MYPN DMPK FRG1 PAX1 CEP126 GYG1 LRP4 MYH2 PAX3 DNAJB6 CHRND MYL2 SMCHD1 CPLANE1 MTMR14 TRPS1 HINT1 POMT1 FLNB BRAF RBM8A MTPAP SLC52A3 MT-TE GMPPA PSAP NGLY1 POMT2 PYROXD1 GFPT1 ALX1 RPL11 ATP6V0A2 GJB1 MAP3K20 LAMB2 DNM1L SLC25A4 FBXO38 SLC25A21 AGRN TRAPPC11 OPA1 HP_Y_LINKED_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_LINKED_INHERITANCE DAZ2 PRY2 CDY2A VCY HSFY1 BPY2 RPS4Y2 KDM5D DDX3Y CDY1 DAZ3 SRY RBMY1A1 PRY XKRY TBL1Y DAZ1 USP9Y HP_ABNORMALITY_OF_THE_UPPER_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_ARM SHOX NOG TBX5 SGCD GPC6 TCAP FZD2 LMBR1 MYSM1 FGFR2 FLNB GNAS STX16 WNT7A RECQL4 RBM8A EMD FHL1 SLC26A2 TMEM43 POR FANCB POLR3A GDF5 EXT2 LMX1B MORC2 RNU4ATAC GNPAT FGFR1 ZIC3 SYNE2 DONSON SALL4 GSC TRPV4 CYP26B1 EXT1 GNPTAB TBX15 LMNA ATP7A RSPO2 FLNA PTDSS1 LONP1 TBX3 SNRPB IFT122 HNRNPDL PITX1 TGFB1 IHH ALG12 AGPS FGF9 EZH2 MACROH2A1 DYM SYNE1 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 FHL1 LMNA LMX1B MORC2 SGCD TMEM43 TCAP SYNE2 EMD HNRNPDL SYNE1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE SALL4 POMK CHRNA1 FKTN SLC16A2 CHRND CAV3 PHGDH PIEZO2 POMGNT2 INPP5K MYMK SIL1 B3GALNT2 CHRNG COLEC11 TRPV4 PLXND1 FBN2 GLE1 PSAT1 DAG1 MAP3K7 RXYLT1 LARGE1 RBM8A ATP6V0A2 TBX3 POMGNT1 POMT1 REV3L FKRP POMT2 B4GAT1 LMX1B TBX5 COL4A1 FLNA CRPPA HP_CONTIGUOUS_GENE_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTIGUOUS_GENE_SYNDROME PAX6 WT1 KANSL1 PAX3 RPS14 HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE MMP2 ATP6V1E1 TBCE ATP6V0A2 ATP6V1A BANF1 RUNX2 CTSK PEX19 FLNA ZIC1 NLRP3 SMC3 ASPA ANKRD11 ADAMTS2 PEX14 POLR3A MED12 FAM111A ATP7A AMER1 RPS6KA3 SEC23A HP_FRECKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRECKLING TYRP1 BAP1 CDKN2A MC1R OCA2 NF1 DDB2 MGMT TYR TERT MAP3K7 RAF1 ABCB6 PPP1CB XPA MLH1 TP63 ERCC3 ACD ERCC5 BRAF PTPN11 MSH6 PMS2 ERCC2 CDK4 CDKN2B ERCC6 ERCC8 TERF2IP XPC POT1 CDH3 NBN ERCC4 PRKAR1A GPR143 SPRED1 MITF MSH2 HPS1 UVSSA SOX18 HP_SUBCUTANEOUS_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_NODULE MC1R PORCN PIK3CA DACT1 IL12A NAGA ACVR1 KLLN FGFR1 NF2 RAF1 PTEN IFNG PTH1R IDH1 OCRL MEFV IL12A-AS1 MLX PTPN11 MDM2 FUS MMP2 IL10 IL12B ASAH1 GNAS IDH2 KIT STAT4 TSC1 TNFRSF11A CTNNB1 IARS2 MMP14 IL23R FERMT3 PDGFRB ERAP1 GJB2 GLA ENPP1 CCR1 CDK4 NOTCH3 KLRC4 AKT1 BTNL2 DDIT3 TSC2 HMGA2 SEC23B ECM1 ANTXR2 HLA-B CYLD KRAS KIF11 MYSM1 LEMD3 FBN1 COL5A1 APC SALL1 SDHB BRAF C4A COL1A1 UBAC2 USF3 ABCC6 INSR SDHC HLA-DRB1 TEK COL5A2 TNFRSF11B FGFR2 NRAS PDGFB TLR4 APOE FAS COL3A1 SDHD HP_BILATERAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_PTOSIS KCNJ11 ZFP57 GSN KCNH1 CERT1 NDUFAF3 ABCC8 PACS1 RRM2B DGUOK PDX1 DBH NDUFB8 DMPK AUTS2 NGLY1 RAD21 AEBP1 HYMAI RNASEH1 KIF21A PLEC PLAGL1 STAC3 INS ADNP IGF1 PHOX2A PAH COLQ LAMB2 SETD5 KDM1A TK2 SURF1 GCK TBC1D24 SCO2 NDUFS2 ATRX STAT3 TUBB3 MAF HP_CARPAL_BONE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_BONE_HYPOPLASIA GNPTAB RBM8A TRPV4 SALL4 RSPRY1 EXOC6B NANS EIF2AK3 COMP KIF22 DYM ALDH18A1 HP_BROAD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FINGER TWIST1 FGFR1 DACT1 CHST3 GJA5 DMXL2 PSMD12 FLNB GPC4 G6PC3 ADAMTS10 STXBP1 LIG4 SMO RBM8A KIF22 FGFR2 AMMECR1 PTEN GPC3 EP300 SUMF1 RPS6KA3 GDF5 NXN EXTL3 FGF9 ZNF141 FGFR3 RNU4ATAC B3GALT6 GLI3 SALL1 PIGP NHS BMP2 BMPR1A NPR2 EZH2 TBCK HOXD13 FLNA RLIM CDKL5 SMARCA2 BPTF USP9X PRKD1 ADNP NSUN2 ROR2 COL2A1 CREBBP OTUD6B DVL1 GNAO1 SCN2A IFIH1 MSX2 SNIP1 NSD1 SLC25A22 ALX4 CASK KCNH1 PIGQ PACS1 TBX5 SRCAP GATAD2B PNKP GNAS B3GAT3 WDR19 GATA4 SIK1 EED GJA8 ACAN MEGF8 SUZ12 FBN1 KCNA1 SETD5 MED12 COL10A1 SATB2 INPPL1 DVL3 RAB23 XYLT1 NEUROD2 NOG TRIM8 PYCR2 EXOSC2 SMOC1 WNT5A IFT122 ARX SCN1B MEIS2 PUF60 HP_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE GNB1 CTBP1 SLC6A8 ELMO2 KCNJ1 TCIRG1 MICOS13 RAG1 INSR NEUROG3 KRAS BLNK KCNAB2 ARHGAP31 SLC13A5 RAB3GAP1 TCF4 UBE3B KCNJ11 ASAH1 NDUFS7 NDUFAF1 NDUFV2 DYNC2LI1 RAG2 PKP1 TRAK1 CYP11B2 GJA1 SCN8A KMT2A MTRR BANF1 HCCS TERT MCCC2 PEX1 LAT WWOX MT-ND4 NDUFS3 AUH EXT1 BPTF POLG2 LAMC2 NCAPG2 MCEE MEGF10 NUP62 FGFR1 ORC6 DCLRE1C HESX1 SLC7A7 HRAS SETBP1 RAI1 SLC35A2 PIGQ BSCL2 PIEZO2 SUGCT PCCA CLDN16 PEX10 COL7A1 OCLN CACNA1B CERS3 CSF2RB CHRNG CD3G KMT2D TIMM50 COX8A BRAF NSMCE3 RAD21 SFTPB SERAC1 NFIX MARS1 KRT5 FLCN EXOSC9 MMACHC AQP2 BCS1L FCGR2A PSMB8 WDR60 PLP1 KLHL7 TBR1 PEX12 NDUFS6 IGHMBP2 PEX7 SLC2A2 BRF1 NDUFV1 COPB2 ORAI1 EVC2 ASCL1 IGHM SOX9 SSR4 BCAP31 OCRL ZSWIM6 SDHA EBP NEXMIF AGPAT2 HSD17B4 EEF1A2 MAGEL2 KCNB1 HSD3B7 PMM2 GTF2IRD1 MT-ND5 COG8 UFD1 LETM1 NDUFS8 NDUFAF3 SNORD115-1 TMEM126B MYH3 GPIHBP1 RFXANK NDUFS2 ICOS MECP2 LPIN2 ETHE1 CD3D GPC1 SNX10 ERCC6 COX6B1 MTR LMBRD1 RNF13 COX14 GPR161 EP300 JAGN1 CLTC TGFB1 DGUOK CD3E DEAF1 SNRPN GALC CLIP2 GCK COG6 COMT SFTPC SLC4A1 PIGP SIL1 RMRP ZFP57 PLAA TRMT5 UBA5 PEX5 PCGF2 TFAM ATP6V0A2 DNMT3B NOTCH1 HIRA PEX19 PTDSS1 STT3A CPLX1 MRPL3 CREBBP OTUD6B GNAO1 COL6A1 SEC23B DNAJC21 PREPL TJP2 PARS2 IGLL1 CHRM3 ABCA12 CYP24A1 TPM3 NALCN MT-ND6 AKT1 NSD2 MT-CYB IL2RB PEX2 DDB2 ATXN7 FGD1 FOXP3 SLC25A3 VPS13B NDUFA10 MT-TL1 PLAGL1 NDUFS1 TALDO1 KCNA1 PRDX1 MT-ND3 SEMA3C PEX13 ALPL SLC12A1 MTFMT NDUFB3 POLA1 PWRN1 KCNJ10 RYR1 USP7 PTEN CYP17A1 FGF12 SLC26A3 ABL1 PYGL CR2 NIPAL4 ACAD9 NDUFA4 CAVIN1 NFKB2 ADA NUS1 KCNA2 ERCC4 ALG8 SGO1 GATM PRKCD CDC6 POLR3A HDAC8 BRCA2 MTO1 SCNN1B PDE6D TRIT1 SDHD CAMKMT DNM1 ASNS PIK3CA SNAP29 RTTN SCN3A ABCC8 SC5D STXBP1 NAGS NDUFB8 TCTN3 NGLY1 PPP1CB PEX16 TACO1 LTC4S LYRM4 MT-TF ERCC5 EPHX1 BRCA1 OTC NDUFA13 CLCNKA ATP6V0A4 AVPR2 CPLANE1 RNU4ATAC AMER1 LAMA3 GCDH SPATA5 PRDM16 KRT14 GMNN MT-ND1 ATPAF2 COG4 RREB1 SCNN1A CD40LG SELENON STT3B SLC39A8 LBR CFTR SLC5A1 COX10 MC2R NACC1 PHOX2B SCN2A MKKS EDN3 RFT1 PEX3 MMUT ALG12 POMC RET TCN2 ACTB IL21 TNFRSF13C ALG9 LIG4 COG1 ADAR NFASC ANTXR2 MAP3K7 COA8 RASGRP1 RECQL4 MED17 SP110 VPS37A POMP NHLRC2 HADHA DGAT1 MYH7 SLC25A24 TMEM165 MBTPS2 PTPRC MOGS GNPAT ZIC3 HCFC1 CYP11A1 SLC39A4 POLG ADAT3 WDR11 BAZ1B CYP7B1 MT-TS2 CYFIP2 NDUFS4 UBA1 CLCNKB SMOC1 EARS2 ASS1 TBX4 UBR1 SMAD4 GP1BB ARX NONO ACTG1 GRIN2D EFL1 EPRS1 SBDS MIPEP SLC12A3 MVK CASK ERCC1 ACSF3 GLYCTK GALT ALOXE3 JAG1 PEX11B RIT1 FAH PSMB9 SLC17A5 NFKB1 SAR1B ALG3 ERCC3 MAP2K1 EPG5 RTEL1 SLC10A2 HADHB MAP2K2 KIF15 MS4A1 FAM111A COL6A2 ATM NDUFA6 SURF1 MMADHC TCOF1 DKC1 SMC1A RFX5 FH RELB CDH23 PGM3 NDUFA1 TBX1 PDHA1 CHD7 SLC25A15 NDUFA11 CD96 FLII CYP27B1 SETD5 HIKESHI IL7R MYL2 PNKP IL2RG SNORD116-1 PRPS1 DDOST MGAT2 CNTNAP2 ECE1 EOGT CDT1 ATP6V1A NR3C2 CTCF DHCR24 DLD AHCY MT-TK GATA6 GABRD ADK HSD11B2 NDUFB9 ATP6V1E1 CSPP1 NRTN AHDC1 CBS OFD1 MT-TV PSAP GABRA5 PARN NDUFB11 CASP8 SCNN1G TNFSF12 C12orf65 KIF7 CYP2R1 ABCA3 GALE PDX1 EXOSC8 AARS1 MRPS2 RPS19 SCN1B SLC34A3 TBL1XR1 LIPA OSGEP NUBPL NKX2-1 LIMK1 FMR1 LIPT1 B4GALT7 SUCLA2 HYMAI GNAS IKBKB CD79A SLC22A5 MT-ND2 COG7 ELN CNKSR2 NADK2 ARID1B DPM2 SLC1A2 PWAR1 PCCB TWIST2 ECHS1 GBE1 RRM2B CD81 MRPS14 ZAP70 STAT3 FGFRL1 FUT8 DPYD WNT2B PNPT1 SYNJ1 HADH DYRK1A LRBA BAAT XPC KANSL1 PET100 ATP5F1A NDUFAF2 SMARCD2 EVC PEX6 PHGDH AGXT HMGA2 WDR26 HPD TNFRSF13B MT-TQ POLR1D MPV17 RARS2 GABRA2 SCO2 SLC25A22 SMARCA2 MRAP MYMK DOCK6 GYS2 UFC1 TIMMDC1 OTULIN NDUFAF8 NDUFB10 IL21R MT-CO3 ASL STRADA COL6A3 SKI UNC80 MCTP2 LARS1 ARVCF DLL4 KIAA0586 TFRC NDN SPINK5 HBA1 FOXRED1 LRPPRC IQSEC2 LAMB3 SDHC RBPJ HNRNPH2 VPS33B NDUFAF4 FOS PUS3 NR1H4 CYB5A GNPTAB SEMA3D ARMC5 STAMBP LEMD3 RFXAP DHDDS CDON VPS45 ATP8B1 ROBO1 PPARG GDNF STAG1 MT-TH SLC19A3 CACNA1A RBM10 STAR PEX14 GPT2 PRF1 RFC2 DMXL2 PSMD12 NLRC4 GABRG2 MCCC1 GTPBP2 ACTA1 MMAA SLC39A13 SRP54 FOXP1 ALOX12B NDUFAF5 NDUFA12 DSP ALAD ACOX1 LMNA NLRP1 MSMO1 PNPLA1 NECAP1 SZT2 LYRM7 CASR JMJD1C ST3GAL5 COA3 RPL5 TMEM70 ARPC1B SUCLG1 VDR UMPS FLNA NELFA SLC25A13 YWHAG MT-CO1 JAK3 POLR1C DNM1L ITCH ACD PCSK1 PYCR1 DPM1 EHMT1 PTPN11 PROKR2 CARS2 COX15 SON SMPD1 MT-ATP6 CSNK2A1 CAV1 STRA6 PYCR2 CDC45 CDKL5 MT-TW KCNJ6 ERCC2 PSMB4 CIITA NDUFA2 MT-CO2 COX20 TGM1 LCK SEC24C PPM1B NEUROD2 DOLK IARS1 CTNS BMP4 TPM2 ARFGEF2 FTO HCN1 NDUFA9 TRMT10C SLC25A4 SLC25A21 SYNGAP1 SMARCC2 AARS2 ACO2 GBA SCO1 NDUFAF6 SLC46A1 G6PC3 KAT6B STAG2 MPI ELAC2 ACTL6B CPS1 ALG11 RIPK1 COX7B CLMP NIPBL PEX26 NFE2L2 CD19 ABCB11 HIBCH SLC34A1 NTRK2 AKR1D1 NPAP1 TTN NR0B1 FIG4 SMC3 AGTPBP1 ALDH18A1 PLEC MDH2 TTC37 FARSB TRAC RERE ASXL1 NRXN1 PTRH2 MLXIPL KIF1B TAZ ALDOB SALL1 INS IGF1 ORC1 EXT2 PMPCB CARMIL2 EGFR GTPBP3 ASXL3 CSF2RA NDP AK2 HACD1 TRIM8 TXNRD2 PNP ITGA7 PNPO MT-TN HERC2 LRRC8A AP3B2 MRPS7 PSAT1 NOTCH2 DACT1 TMEM216 AIMP1 TWNK NNT ACVR1 KLLN FAM149B1 ACADS BMPR1A YARS2 TMPRSS15 RBCK1 GTF2I CD247 XPA EDNRB DEGS1 NUP214 MMAB CA2 ATP7B EPCAM DHCR7 TK2 COL12A1 PTF1A MBL2 COX4I2 SKIV2L KIAA0753 ARV1 TKFC GLI1 GRIA4 SLC3A1 ITGB4 VIPAS39 RARB ORC4 MKRN3 ARCN1 CD79B MPDU1 WDR4 PACS1 STING1 PPP3CA FBXL4 GABRB2 TRIO SIK1 TBL2 SDHB ERMARD CA12 TGDS VAC14 TCF3 PIK3R1 USF3 PUS1 AP1B1 FBN1 LHX4 BTK SARS2 ZMPSTE24 MAP3K20 KDM6A AMACR BSND NFU1 TINF2 AGPS USP8 HBA2 FUCA1 CIT HP_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAUTERINE_GROWTH_RETARDATION SMARCAL1 CTBP1 BCS1L FMR1 MPLKIP PDX1 INSR NEK9 HYMAI FANCL ARID1B TSFM MT-ND2 KLF11 KCNJ11 COG7 FOXH1 BRIP1 DDX11 POLE ATR DYNC2LI1 WRAP53 SMC1A STAT3 KIF14 TTC37 FGFRL1 FUT8 ALDH18A1 MTRR ORC6 PNPT1 WDR4 RNASEH2A HADH TERT DYRK1A NFIX TTC7A NSDHL NDUFS3 SOX11 KANSL1 NDUFAF8 NUP133 NDUFV2 NCAPG2 ATP7A ERCC8 ATP5F1A PIEZO2 EVC PHGDH TELO2 HMGA2 NDUFB11 HDAC6 FAM111A SDHB GATA4 INS KMT2A PLK4 RNF113A SMARCA2 SLC35A2 TFAP2A CEP57 PTCH1 XRCC4 SRCAP CHRND GATAD2B PDSS2 CKAP2L GINS1 ESCO2 SFXN4 SLX4 FGFR1 FLI1 NUP107 TOP3A TIMMDC1 NDUFB10 SIX3 GAS1 TMEM70 CHRNG FANCB SMARCB1 PLAGL1 CDKN1C SNRPB AFF2 RAD21 UNC80 MCTP2 CORIN BUB3 COQ4 EMG1 ARVCF GFM2 EXOSC9 FANCA RERE UQCC2 KLHL7 TGIF1 MAPK1 GCK FANCI CTU2 NDUFS6 DONSON IGHMBP2 FOXRED1 RAB18 SLC18A3 XPR1 TAF1 EVC2 XRCC2 TBC1D20 UBR1 NDUFAF4 ABCC8 WNT4 B3GLCT NKX2-5 PDGFRB ZFPM2 TRAPPC11 FGF8 BCAP31 LEMD3 UBE2T DHDDS GATA6 TINF2 COQ9 LMNA UFD1 LETM1 TMEM216 STAG1 NDUFS8 SDHD NDUFAF3 TDGF1 TMEM126B CTC1 MYH3 GPKOW RBM10 RPL10 TBCE SEC61A1 FANCM ERCC4 SDHAF1 FLNB TBX1 ERCC6 KIF2A RAF1 ZMPSTE24 CLCN7 CCNQ DHCR24 STN1 NDUFAF5 LFNG NSD2 ITPA PTPN11 SIN3A CUL7 COG6 PDE6D ERCC2 COMT GMNN DOK7 ZFP57 SKIV2L JMJD1C GLIS3 SMAD4 ERCC3 NDUFS2 PKLR NEUROD1 NDUFV1 PEX5 PCGF2 TFAM ATP6V0A2 OSGEP GTPBP3 HIRA DKC1 BCR BRCA2 NELFA PTDSS1 CPLX1 NSUN2 OTUD6B CITED2 DNAJC21 PIK3R1 ACD BRCA1 FKTN BUB1B PYCR1 HOXD13 SOX4 GATA5 TARS1 MKS1 FLVCR2 PEX2 SIX2 ELN MAD2L2 PAX4 SLC25A24 ALX4 KDM6A NDUFAF2 TUBGCP6 RTEL1 LARS2 VPS13B RNU4ATAC ARID1A NODAL TALDO1 HNF1A NDUFA10 TCTN3 BRAF STRA6 SMARCE1 POLR3A CDC45 CDC6 HNF4A NDUFB3 POLA1 BUB1 PPP1R15B RFWD3 CEP290 BLM STOX1 ABL1 TRAIP PDE4D ARID2 XYLT1 SEC24C IARS1 IGF1R ERCC5 NUS1 TAPT1 FTO DLL1 ALG8 HSD11B2 RB1 SON STT3B DNMT3A HDAC8 PALB2 NDUFS7 NUP88 P4HB ABCB7 RIPPLY2 CCDC8 FANCE NALCN DHCR7 RAB3GAP1 GDF1 RTTN SMARCC2 SC5D CEP152 NOP10 PSAT1 SMARCD1 HES7 NUP188 NIN MT-ND3 HHAT ZNF335 RAB3GAP2 QRICH1 CDON NIPBL SAMD9 COG4 GTF2H5 GLI3 ERCC1 CENPE YY1 TUFM WARS2 MBTPS2 RREB1 BLK SEMA3E LAGE3 FANCF COQ2 PAH TUBGCP4 PIGG CHD7 TRIP13 WASHC5 MESP2 CNOT1 SLC26A2 SMC3 GTF2E2 PRKDC ZIC2 NDUFS1 PDGFB TRMT10A MYORG MCM4 FANCG SEMA5A IGF1 PRKAR1A ASXL1 COG1 COQ7 MLXIPL ADGRG6 FLT1 RECQL4 FLT4 KIF5C FANCD2 ORC1 TPRKB DISP1 MCM5 JAG1 RIPK4 LIFR OBSL1 PCNT MT-ND1 SMARCA4 SF3B4 TBX4 PLOD3 GP1BB SLC25A13 NKX2-6 DPF2 RAPSN RAD51 ATP6V1A ADAT3 LIG4 WNT7A SDHA CENPJ BMPER PSPH HYLS1 MUSK ATRIP CRKL SHH COG5 NPM1 NDUFA6 FAM20C PCDH12 UQCRFS1 IBA57 TBX6 GBA CDCA7 RAD51C PUF60 GLI1 NDUFS4 DNAJC19 CTNND2 RARB ORC4 GLI2 BRPF1 SEC24D ALG1 NDUFA1 ARCN1 WDR73 DLL3 NDUFA11 TERC SETD5 CHRNA1 TP53RK APPL1 MYOD1 PRPS1 CTDP1 NDUFAF1 FIG4 FANCC GFM1 PARN ARL6IP6 TRIM37 CDT1 FBN1 TGDS RBBP8 IGF2 CEL GJA5 RFX6 SLC20A2 CDK10 NDUFB9 ATP6V1E1 NHP2 NBN NDE1 SUFU EIF2AK3 USB1 RPL11 IFIH1 AARS1 RPS19 JAM2 NOS3 NUBPL HP_SMALL_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOR_GESTATIONAL_AGE PTCHD1 ACSL4 CTBP1 MSX1 TRMT1 KCNJ1 FANCD2 CLCN4 GPC1 FANCE ERCC6 FBN1 NGLY1 COL1A1 CCNQ SRP54 SHROOM4 FTSJ1 KCNJ11 PAM16 PNPLA6 ALB TGFB3 NUP188 USP27X PPP1R15B NSD2 HADHB EPCAM UPF3B MUSK SIN3A INSR CUL7 ZNF335 NPHS1 POR SPR INS RAB39B HCFC1 SYNE1 TTC37 SKIV2L FGFRL1 UQCRFS1 ARHGEF6 TMEM70 TP63 GMNN DNM2 DYRK1A COL1A2 ALG13 CXorf56 AGTR2 CNTN1 AUTS2 PTF1A KANSL1 PUF60 VPS13B IQSEC2 EMG1 PAK3 CRIPT TSHR CPLX1 NECTIN1 ARX PHOX2B MBTPS1 TBL1XR1 TAF13 PIK3R1 ZNF41 FAM111A ALG12 IL1RAPL1 CLTCL1 RET ORC1 POC1A TRMT10A FANCC CEP57 PDX1 OBSL1 MRPS16 FRMPD4 TRAIP PTS ZNF711 SIX2 YY1 DLG3 FBXL4 COQ7 RBBP8 SYP ERCC2 GATA6 FLT1 IRF6 CTCF ACADVL GRIN2A PPP2R3C TALDO1 GDI1 MCTP2 IGF1 PIK3C2A CYB5A CORIN DMD MYH3 SLC9A7 IGF2 CNKSR2 FLCN RPS6KA3 SLC12A1 MID2 HUWE1 TBR1 GCK DNAJC21 IGHMBP2 HADHA HSD11B2 FANCA STOX1 NDP FZD4 UBR1 CREB3L1 ASCL1 ABCC8 CCDC8 EIF2S3 NSUN2 TSPAN7 GK CYB5R3 THRB SMAD4 MECP2 PDHA1 STAMBP USP9X TAPT1 BUB1B ACTB RECQL4 GTF2E2 MED12 MTO1 LETM1 SBDS LRP5 WDR73 ZNF81 HP_DISPROPORTIONATE_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_TALL_STATURE ZNF469 SMS CHST14 ASXL3 NSD2 PLOD1 NKAP CBS HPGD MED12 LOX SMAD3 TGFBR1 FBN1 FBN2 MAN2B1 PTEN FKBP14 ZDHHC9 ATP6V1A TGFBR2 AKT1 NELFA LETM1 ATP6V1E1 UPF3B COL2A1 COL1A2 HERC1 RET DLG4 DSE HP_LARGE_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOR_GESTATIONAL_AGE ABCC9 PTCH1 MTOR APPL1 FIBP PDX1 MTMR14 NEUROD1 MYF6 PAX4 UCP2 HNF1A KCNJ11 ABCC8 ANK3 HNF4A EDNRB KLF11 RNF135 DNM2 BLK DIS3L2 GCK PIGN CEL PIGA HERC1 AKT2 TMCO1 RYR1 PIGL INS BIN1 BRAF GLI3 SUFU PIGT HP_DEATH_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_INFANCY DLL3 PEX14 ITGB4 GLI3 CRLF1 AIMP1 PEX3 GLUL PEX11B PLEC PSAP PLXND1 PEX16 ERCC6 PMS2 LIPT1 NDUFAF3 SUOX EPCAM LTC4S GPR161 GPC3 SLC26A2 COASY ACOX1 LAMB3 ITPA GDF5 ITGA6 BRAT1 COG6 ERCC2 MYH11 CLCF1 CPT2 ATRX SCN4A BOLA3 MYLK POLG2 ERCC1 PTF1A MRPS22 GLB1 PEX26 BMPR1B PRPS1 TSEN54 HSPG2 PEX1 DNM2 TMEM260 PEX5 TFAM NRAS MLH3 CNTN1 MSH2 TUFM LAMC2 PEX6 SIK1 NDUFA2 ROR2 MSH6 NAXD PMS1 GRIP1 DNM1L HDAC6 DCX ALG1 PHOX2B HESX1 MYO5B SCO2 SCYL2 LMNA RET HTRA2 PEX19 MLH1 GCSH WASHC5 EPG5 NXN CCDC22 PROKR2 KRAS LMOD1 MYL1 PEX10 FLI1 GPC4 LAMA3 KLHL40 TRIP11 FRAS1 TGFBR2 TMEM70 NAXE FREM2 PQBP1 FARS2 SNRPB NADK2 RBM8A PEX13 ALPL EMG1 ANTXR2 DPM2 PIGA ERCC5 KLHL7 PEX12 GLDC ACTG2 WDR11 VPS33B GBA ASCL1 MESP2 SLC25A19 DOLK LHX4 TSPYL1 EIF2AK3 ASXL1 IDUA CRTAP OCRL SMOC1 SMO CDON UBR1 AMT PEX2 REV3L PIK3CA ARX ROBO1 RMND1 FAN1 LIPA CD96 AARS2 HP_SEVERE_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_FAILURE_TO_THRIVE INSR NALCN GPC1 PRPS1 RTTN UNC80 ERCC6 FIG4 HYMAI VAC14 ZFP57 PEX7 HP_HEMIHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIHYPERTROPHY IGF2 KCNQ1OT1 RNF125 NRAS AKT1 HRAS PIK3CA KRAS AKT2 KCNQ1 CDKN1C H19 HP_MILD_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_POSTNATAL_GROWTH_RETARDATION CCBE1 FAT4 CDAN1 ADAMTS3 PRKAR1A IGFALS HP_FAILURE_TO_THRIVE_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_IN_INFANCY ICOS LIMK1 RFC2 PSMD12 MCCC1 NFKB1 GTF2I EDNRB MAP2K1 LTC4S FGFR1 SCNN1A HRAS ELN MAP2K2 KIF15 DEAF1 SNRPN TK2 PWAR1 HADHA MS4A1 CLIP2 SCNN1G CD81 RAI1 MCCC2 DYRK1A CD19 BPTF TKFC JAK3 SLC39A8 BRAF NPAP1 MKRN3 TNFRSF13B EDN3 ITCH SETBP1 TNFRSF13C SLC35A2 FLII PTPN11 SNORD116-1 COG1 RET KRAS MLXIPL ECE1 FOXP3 CSF2RB RECQL4 VPS13B TBL2 SP110 UNC80 SEMA3C PWRN1 NDN COG4 TNFSF12 IQSEC2 NRTN COPB2 CR2 BAZ1B CSF2RA NFKB2 UBA1 CTNS MAGEL2 PUS3 SEMA3D HERC2 HADHB PRKCD SLC25A13 GTF2IRD1 SON PSAT1 COG8 GDNF POLA1 SCNN1B ERCC1 SNORD115-1 PYGL CD96 HP_SLENDER_BUILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_BUILD ACTA1 GRIA3 NSDHL FARSB DNA2 NEB MYPN PDE11A MED12 STRADA KLHL41 NONO WRN SARS1 POLG COL6A3 TIMM50 KBTBD13 TGFB1 PDE8B POLR3A TPM3 TYMP TUBB4A TPM2 HERC1 FBN2 COL6A1 PRKAR1A PRKACA COL6A2 HP_PROTUBERANT_ABDOMEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTUBERANT_ABDOMEN MTOR GBA SMARCAL1 G6PC IFT52 VDR TRIP11 COL11A1 COL2A1 PTH1R SMPD1 COL11A2 GNPTAB CYP2R1 INPPL1 BMPER IFT122 NKX3-2 CYP27B1 SLC26A2 SLC37A4 GNE LIPA HP_OMPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OMPHALOCELE COL11A1 PORCN SEMA3E HOXD13 CEP120 LMOD1 FGFR1 MKS1 FREM1 LRP2 NEK9 FLNB GPC4 IFT80 FRAS1 TWIST2 WDR60 KCNQ1OT1 FREM2 FLNA YWHAE GPC3 PPP2R3C HIC1 DYNC2H1 NFIX HYLS1 PIGN NXN TSHB MBTPS2 MMP2 TP63 MYH11 TTC7A CDKN1C AMER1 MYLK ZIC3 MASP1 IFT81 DACT1 ACTG2 MMP14 DVL3 CHUK SPECC1L RAB23 CHD7 PAFAH1B1 WDR35 COL11A2 KCNQ1 BHLHA9 IGF2 PTCH1 LONP1 THRA GRIP1 ISL1 WDR34 CD96 ALG9 LBR HP_DIASTASIS_RECTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTASIS_RECTI PORCN MTOR COLEC10 MASP1 TBCK SPECC1L COLEC11 KCNQ1 GPC4 CHST14 GNPTAB KCNQ1OT1 IGF2 PPP2R3C SHPK ELMO2 GPC3 CDKN1C B3GLCT EZH2 HP_ASCITES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCITES RHBDF2 SPIB FARSB CEP57 NPC2 LBR BMP2 DOCK6 PLVAP FAH SLC17A5 ARHGAP31 FSHR TSC1 MEFV EOGT ARL6IP6 FLI1 IL12RB1 SP110 DIS3L2 SOX18 OSTM1 DGUOK WDR35 BUB3 AGGF1 GUSB DNASE1L3 LIPA ERCC4 PIEZO1 PRKAR1A DLL4 CCBE1 FAM111A MMEL1 GBE1 BUB1 STAT4 GPR35 JAK2 MST1 MRPS22 INHBA IRF5 POU2AF1 RBPJ F5 SCARB2 EWSR1 HFE CD27 VPS13A PRKCSH TFAM NEU1 NOTCH1 WT1 ADAMTS3 GBA SPP1 TNPO3 CD55 TAPT1 ALG8 TNFSF15 TSC2 HSD17B4 TRIP13 TCF4 PRKAG2 FAT4 IRAK1 BUB1B NPC1 IL12A USP18 ASAH1 MYBPC3 ALG9 HP_ANTERIORLY_PLACED_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIORLY_PLACED_ANUS COX7B CDH11 DVL3 PIGY DACT1 PIGV ATN1 PIGO DCHS1 UBR1 FGFR2 SLC25A24 CDK8 RECQL4 PIGL C2CD3 FAT4 SALL1 FREM1 ACADVL NDUFB11 SUZ12 HCCS PTDSS1 PIGW SNRPB PGAP3 RFX6 POR PGAP2 MED12 PORCN B3GLCT SETBP1 CHD4 HP_ABNORMALITY_OF_THE_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RIB_CAGE DYNC2LI1 CTBP1 GLI3 NEK9 KCNAB2 SGSH INPPL1 TRAPPC2 FBN1 PTEN COMP SOX9 GPC3 DNM2 RRAS2 FLNB NEB COL2A1 MESP2 ATR PORCN CHRNG FGFRL1 CHD7 NRAS CHST3 ORC6 BANF1 IFT43 RUNX2 PPIB WDR35 MTM1 COL11A2 NSDHL PTCH1 ROR2 TNNT1 IFT172 HDAC6 PCYT1A CYP27B1 HRAS KMT2A SETBP1 MMP13 SEMA3E CHRND CEP120 RAB33B FGFR3 MRAS FLI1 MAN2B1 GPC4 GLB1 MYF5 SNRPB SOX2 SKI HGSNAT CEP152 SLC26A2 KIAA0586 WDR60 TRIP11 COG1 SELENON ARSB DONSON PTPN11 TNFSF11 SLC35D1 SEC24D CREB3L1 WDR19 TENT5A CLCN7 C2CD3 GNPTAB CRTAP OCRL LMNA PEX1 IFT80 CSPP1 ACTB SOS2 LETM1 SOST XYLT2 MED12 MYH3 GPKOW TTC21B DLL3 TBCE ADAMTS10 ZMPSTE24 SRP54 LFNG NSD2 CUL7 GPX4 GMNN IRF6 FUCA1 SMAD4 VANGL1 LRP5 VDR PCGF2 FLNA AKT1 PTH1R NELFA PTDSS1 CPLX1 DDR2 KIF22 WDR34 ATP7A CHRM3 RYR1 SOS1 EZH2 DYM BMPER HOXD13 TMCO1 GNPTG RMRP B3GAT3 FGFR2 MTMR14 SIX6 SON GATA4 GATA6 CFAP410 RAF1 ACAN DYNC2H1 DDRGK1 ALPL CDC45 NEK1 CDC6 MEOX1 PTCH2 PHEX PIEZO2 KCNQ1OT1 COL5A2 RIT1 CILK1 NOG INTU CTNS IGF1R TAPT1 IFT122 EVC2 XYLT1 POLR3A DNMT3A BRAF P4HB AMER1 RSPO2 RIPPLY2 LIFR CCDC8 DHCR7 MGP EIF2AK3 RECQL4 COL1A1 RBM8A GDF6 A2ML1 HES7 GUSB HERC1 RNU4ATAC B3GALT6 PRDM16 CYP2R1 HSPG2 TBCK GNS CANT1 MYF6 TNFRSF11A SCARF2 IFT140 GDF3 UBE3B BMP2 WASHC5 ALG12 FIG4 NXN TBX5 GALNS PPP3CA FUZ NIPBL RERE TBX6 ACTA1 NFASC P3H1 MAP3K7 NAGLU TBX15 IKBKG ANK1 IFT57 H19 SALL1 WNT1 ORC1 AIFM1 LMX1B APC TCIRG1 ABCC9 BIN1 OBSL1 NAA10 TRPV4 SNX10 CBL BCOR SMO SBDS ADA MAF LBR VPS33A JAG1 WNT3 DACT1 KLHL41 CENPJ MAP2K1 PAM16 LRP4 TRPV6 EXT1 RASA2 MATN3 MUSK FAM111A ANTXR1 EXOC6B RTTN ZBTB16 IFT81 LMOD3 SF3B4 EXT2 IGF2 KLHL40 COL1A2 SMC1A PQBP1 PUF60 KRAS COL5A1 TNFRSF11B AR ANKRD11 KCNJ8 ORC4 NKX3-2 TBC1D24 POP1 OFD1 COL11A1 CHRNA1 PAX3 LZTR1 CCDC22 MGAT2 SERPINH1 WNT7A ERMARD GABRD FERMT1 VAC14 DNAJC21 BGN EFNB1 NOTCH3 CDT1 RRAS GLE1 IDUA MBTPS2 EVC WNT4 MAMLD1 RPS19 IHH SLC34A3 SUFU HP_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH PDGFRB HSPG2 PIK3CA HRAS KCNQ1 NF1 ESR1 FAM20A NFIX DICER1 KCNQ1OT1 IGF2 RNF135 SUZ12 NRAS KRAS PIGA FBLN5 HERC1 FIBP SETD2 EFEMP2 SOST CDKN1C HP_ABNORMAL_ILEUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ILEUM_MORPHOLOGY PTCHD1 ACSL4 FANCE FRMPD4 FANCG FANCM ZNF711 ERCC4 CLCN4 MAD2L2 SLX4 DLG3 FANCC FANCL GPC4 RFWD3 SYP FTSJ1 DIS3L2 FOXF1 USP27X GDI1 FANCI RBM8A DMD UPF3B SLC9A7 FANCD2 CNKSR2 RPS6KA3 BRIP1 MID2 FANCA RELA RAB39B HCFC1 ARHGEF6 XRCC2 ALG13 TTC7A CXorf56 AGTR2 TSPAN7 RAD51C BRCA2 IQSEC2 MECP2 PAK3 UBE2T USP9X FANCF ARX MED12 PALB2 GPC3 ZNF41 BRCA1 FANCB IL1RAPL1 FGFR1 ZNF81 RAD51 HP_ABNORMAL_UMBILICUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICUS_MORPHOLOGY ABCC9 RIPPLY2 FANCE MSX1 GPC6 LIMK1 GLRA1 MPLKIP MASP1 STXBP1 GPHN FANCL CHST14 ARID1B RFWD3 MAPRE2 OCRL GPC3 HES7 ELN GUSB SRCAP BRIP1 MYH11 MED13L PORCN MYLK B3GLCT GTF2H5 GLI3 SALL1 CHRNG FZD2 CHD7 HSPG2 PRDM5 GMNN NSDHL AEBP1 HESX1 RREB1 ATP7A DGCR8 FRAS1 PHGDH FANCF ADNP ROR2 NECTIN1 LBR GJA1 MESP2 ADAMTS2 SCN2A LHX3 EOGT SNIP1 SHANK3 GTF2E2 TBX1 NALCN SLC25A22 RNF113A SETBP1 ALDH18A1 CASK NXN SEMA3E PIGQ FGD1 ESS2 LMOD1 FANCG NIPBL KCNH1 LRP2 FBLN5 SLX4 C1S SLC2A10 MAN2B1 GPC4 HELLS MLXIPL DVL1 FREM2 PAX8 EED PLAGL1 MEGF8 FANCI SKI BCOR NFIX TRAF7 TSHB SLC25A24 FANCD2 ARVCF SLC26A2 TP63 FANCA TRIP11 COL2A1 DGCR6 IKBKG NKX2-5 RIPK4 ARSB SPECC1L RAB23 DNMT3B BCL11B FOXE3 BAZ1B XRCC2 CCBE1 TENT5A HYMAI TRIM8 GNPTAB FGFR2 BMP1 UBE2T SUZ12 WNT5A NOTCH1 DUOXA2 GP1BB ARX LTBP4 COLEC11 GTF2IRD1 DVL3 UFD1 FANCB MYH3 RAD51 NOTCH2 FANCM RFC2 ERCC4 DMXL2 SLC6A5 PROP1 NOTCH3 POU1F1 LHX4 GTF2I TWIST2 TPO DNMT3A ATAD1 LFNG CLIP2 COMT ANTXR1 MTOR ACTG2 PIGP SLC5A5 PTCH1 CDCA7 JMJD1C GLIS3 COLEC10 TMEM70 ERCC3 RIN2 ATP6V0A2 DUOX2 AUTS2 HIRA RAD51C BRCA2 TGFBR2 ZBTB24 COL5A1 FLNA RAC1 KCNJ8 GRIP1 IDS TRRAP GNAO1 ELMO2 ERCC2 DLL3 BRCA1 ATRX EZH2 IDUA CDH11 PACS1 PNKP TARS1 IYD TG SMAD3 MAD2L2 MED12 FANCC COL1A1 FKBP14 PPP2CA SH3PXD2B GATA6 SIK1 TBL2 TGDS IRF6 GLRB KCNA1 DGCR2 CDKL5 TSHR CLDN19 AGPAT2 AGA PIGS COL5A2 EFNB1 TUBB HDAC4 CAVIN1 FBN1 SEC24C BSCL2 NEUROD2 KIF7 MBTPS2 FTO TRHR SCN1B ISL1 PALB2 COL3A1 HP_BARREL_SHAPED_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARREL_SHAPED_CHEST VPS33A FUCA1 MYH3 CILK1 RAB33B CHST3 LRP5 TRIP11 P3H1 TRAPPC2 EIF2AK3 COL2A1 WNT7A TNFRSF11B ACAN DYM TRPV4 HRAS LBR HP_ASYMMETRY_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_THE_THORAX HERC1 KCNQ1OT1 ANTXR1 IGF2 NRAS PTEN AKT1 AMER1 H19 HP_PRENATAL_MOVEMENT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MOVEMENT_ABNORMALITY DNM1 GLE1 CTBP1 TRIP4 PHGDH VAMP1 ALDH7A1 NEB SCN3A NEK9 PEX19 SLC13A5 TSFM ACTL6B PSAT1 COL6A2 DNM2 NUP188 CNKSR2 MYH3 SLC1A2 PWAR1 ATP6V1A GBE1 NIPBL RAI1 SYNE1 CHRNG FGFRL1 CHRND SCN8A PLOD1 HSPG2 SYNJ1 WWOX MYF6 GFPT1 LGI4 TRAK1 KLHL41 RYR1 LMOD3 MEGF10 SLC5A7 SELENON NTRK2 COL12A1 NPAP1 CCDC174 PHOX2B TMCO1 SMC3 GABRA2 RET ALG9 NECAP1 COL13A1 MYMK COL6A1 ZC4H2 MYL1 FGFR3 ACTA1 NFASC CACNA1B ADGRG6 LETM1 KIF5C RAD21 CNTNAP1 TPM2 EXOSC9 PRUNE1 NDN BIN1 TRPV4 IGHMBP2 IQSEC2 DMPK SLC18A3 CYFIP2 ASCL1 B3GLCT HACD1 MYO9A BICD2 ITGA7 HERC2 AP3B2 EEF1A2 MAGEL2 KCNB1 ZBTB42 SMC1A LMNA MYH7 STXBP1 COL6A3 SNORD115-1 NUP88 NUS1 RAPSN GPKOW CACNA1A PREPL PEX3 AGRN GABRG2 GRIN2D SNAP25 ZMPSTE24 CLTC NSD2 KBTBD13 MUSK TPM3 DEAF1 DHCR7 SNRPN SZT2 DOK7 MYCN CHRNE AARS1 WDR62 UBA5 KLHL40 MYPN ARV1 CNTN1 GBA TBCK NELFA YWHAG SLC3A1 CPLX1 MKRN3 DNM1L SLC25A1 PARS2 EBF3 SCYL2 CRPPA GMPPB FLII SETD5 NALCN CHRNA1 MYL2 TRAIP KCNA2 IL2RB SNORD116-1 MYOD1 MTMR14 PPP3CA GABRB2 COX15 CHAT VPS13B PWRN1 USP7 KMT2A SMN1 ASCC1 PIGS FGF12 DHDDS DNA2 GABRA5 SLC25A26 PPM1B SLC25A19 GLDN MPZ ERCC5 HCN1 SYT2 ALG8 MAP3K20 ERBB3 SYNGAP1 UBA1 HDAC8 MTM1 FXR1 CAMKMT HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID FGFR3 PIGY KCNJ1 PRRX1 NEB NEK9 KRAS INPPL1 FANCL FGF20 SOX17 GPC3 DNM2 FLNB DPM2 MYH3 BRIP1 CEP55 GBE1 MYLK CBL KIF14 FUT8 LTBP3 NRAS MTM1 REN CC2D2A ITGA6 DHPS TTC7A RYR1 RAF1 SLC5A7 CRB2 SHOC2 GMPPB HRAS ITGA8 CHRND RPGRIP1 HSPA9 PDSS2 COL13A1 SLX4 ESCO2 GPC4 OTX2 TMEM70 FANCB STRADA PLAGL1 BUB3 CEP290 PIGN GREB1L ARVCF SLC26A2 TPM2 EXOSC9 AQP2 FANCA WDR60 TRIP11 KLHL7 KIF7 B9D1 AGTR1 DONSON SLC9A3 PHGDH SLC35D1 TSEN54 SLC18A3 SEC24D XRCC2 TMEM67 ASCL1 WNT4 B3GLCT HYMAI SOX9 CNTNAP1 UBE2T BNC2 HSD17B4 ZBTB42 LMNA PMM2 UFD1 PIGV NUP88 MYO9A CEP57 FANCM ERCC4 PLEC AGRN CHRNG ACTA1 SNAP25 ZMPSTE24 CLCN7 EP300 DIS3L2 SPINT2 EXTL3 SIN3A COMT POR WDPCP DOK7 MYCN JMJD1C TP63 PKLR PCGF2 MAFB CNTN1 DMPK HIRA TBCK BRCA2 PTH1R CREBBP SLC25A1 BRCA1 CHRM3 BUB1B CSPP1 WDR35 NALCN HOXD13 TCTN2 TMCO1 TRAPPC12 MKS1 FLVCR2 PLVAP MTMR14 MAD2L2 SLC25A24 ALX4 GLE1 GATA6 LARS2 TALDO1 TCTN3 ALPL CPT2 PIEZO1 SLC12A1 TBX1 EFEMP2 CFL2 BUB1 PBX1 KIDINS220 ASCC1 RPL10 ACTG2 SLC26A3 SEC24C GLDN TPM3 TMEM107 TAPT1 SYT2 DOCK6 ALG8 ERBB3 RET COL2A1 PALB2 PGAP2 RSPO2 FANCE DHCR7 KLHL41 MSX1 NPHP3 TRIP4 VAMP1 KAT6B RFWD3 ALB SMG9 CLCNKA LHX1 MYH11 AVPR2 RNU4ATAC AMER1 GLI3 LMOD3 MRPS22 ACE ADAMTS3 HSPG2 ITGB4 MYF6 RREB1 FOXE1 SEMA3E SELENON FANCF COQ2 HNF1B LONP1 NECTIN1 CHD7 TRIP13 C1QBP PHOX2B HYLS1 TMEM216 ALG12 FIG4 MAGED2 TTC37 FARSB LMOD1 FANCG ASXL1 COQ7 ADGRG6 WDR81 FANCI FANCD2 PIGA FBLN5 TMEM231 AGT BIN1 UBE2A LIFR PAFAH1B1 CALCRL KCNJ6 HACD1 RPGRIP1L CLCNKB ITGA7 DYNC2LI1 PNPO NEK8 EBP GP1BB RAPSN RAD51 LBR CERT1 WNT3 PKHD1 KIAA0586 RIT1 ADAT3 BMPER YWHAE EXT2 TRPV6 WDR34 HADHB KBTBD13 MUSK GNPTAB B9D2 ERGIC1 BRAF COG5 PIGO IBA57 ERF KLHL40 MYPN PIGL GBA INVS RAD51C PUF60 HBA2 ALG1 TBC1D24 SCYL2 CLTCL1 ALG9 CHRNA1 MYL2 TRAIP MYOD1 FANCC CHAT FBN1 IRF6 HIC1 FOXF1 HBA1 PIGW TBCD VAC14 HADHA ATRX SLC25A26 PSAT1 MBTPS2 RPL11 MAP3K20 SNRPB PGAP3 MAMLD1 BSND WDR73 FXR1 CD96 OSGEP HP_POLYHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYHYDRAMNIOS RSPO2 SLC35D1 FGFR3 DHCR7 KLHL41 MSX1 NPHP3 PHGDH ACTA1 KCNJ1 VAMP1 PRRX1 NEB KRAS KAT6B INPPL1 SOX17 STRADA GPC3 DNM2 FLNB DPM2 SMG9 MYH3 CLCNKA MYH11 AVPR2 TTC7A GBE1 AMER1 MYLK B3GLCT CBL LMOD3 FUT8 ADAMTS3 LTBP3 NRAS HSPG2 MTM1 ITGB4 TRIP11 MYF6 ITGA6 RYR1 RREB1 FOXE1 RAF1 SLC5A7 CRB2 SHOC2 SEMA3E SELENON LONP1 NECTIN1 CHD7 TRIP13 PHOX2B HYLS1 TMCO1 ALG12 FIG4 HRAS RET MAGED2 PLEC CHRND TTC37 LMOD1 COL13A1 ASXL1 ESCO2 GPC4 OTX2 ADGRG6 FANCB WDR81 BUB3 CNTNAP1 PIGN ARVCF SLC26A2 TPM2 PIGA AQP2 WDR60 KLHL7 KIF7 BIN1 SLC9A3 DMPK TSEN54 SLC18A3 PAFAH1B1 CALCRL ASCL1 PTH1R KCNJ6 HACD1 SOX9 CLCNKB ITGA7 DYNC2LI1 EBP HSD17B4 GP1BB ZBTB42 LMNA UFD1 NUP88 RAPSN LBR PIGY MYO9A WNT3 CEP57 AGRN KIAA0586 RIT1 CHRNG ADAT3 SNAP25 ZMPSTE24 CLCN7 YWHAE EXT2 TRPV6 EP300 DIS3L2 WDR34 SPINT2 KBTBD13 MUSK TPM3 EXTL3 SIN3A BRAF COMT DOK7 MYCN JMJD1C TP63 IBA57 ERF KLHL40 MYPN PCGF2 MAFB CNTN1 HIRA GBA COL2A1 HBA2 CREBBP SLC25A1 TBX1 TBC1D24 BUB1B SCYL2 ALG9 WDR35 NALCN CHRNA1 MYL2 TRAIP HOXD13 TRAPPC12 FLVCR2 MYOD1 PLVAP MTMR14 CHAT IRF6 HIC1 FOXF1 HBA1 ALPL PIEZO1 SLC12A1 TBCD VAC14 CFL2 BUB1 KIDINS220 ASCC1 RPL10 ACTG2 SLC26A3 SEC24C SLC25A26 GLDN PSAT1 GLE1 TAPT1 SYT2 RPL11 MAP3K20 ERBB3 SNRPB MAMLD1 BSND CD96 HP_OLIGOHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOHYDRAMNIOS FANCE CERT1 PIGY NPHP3 TRIP4 FANCM PKHD1 ERCC4 NEK9 FANCL FGF20 RFWD3 BMPER ALB MYH3 GNPTAB BRIP1 CEP55 B9D2 LHX1 ERGIC1 POR WDPCP COG5 RNU4ATAC AMER1 GLI3 KIF14 ACE TMEM70 PIGO TBCK REN CC2D2A DHPS PIGL INVS RAD51C PUF60 BRCA2 FANCF COQ2 HNF1B HBA2 C1QBP PHOX2B GMPPB TMEM216 BRCA1 CHRM3 CLTCL1 ALG9 RET CSPP1 NALCN ITGA8 TCTN2 RPGRIP1 FARSB HSPA9 FANCG MKS1 PDSS2 MAD2L2 SLX4 FANCC SLC25A24 ALX4 COQ7 GATA6 LARS2 FBN1 PLAGL1 TALDO1 FANCI HBA1 PIGW TCTN3 CEP290 CPT2 FANCD2 GREB1L FBLN5 EXOSC9 FANCA EFEMP2 PBX1 TMEM231 AGT B9D1 UBE2A AGTR1 LIFR DONSON WNT4 ATRX SEC24D XRCC2 TMEM67 ASCL1 HYMAI RPGRIP1L TMEM107 UBE2T BUB1B MBTPS2 BNC2 NEK8 DOCK6 ALG8 PGAP3 PALB2 PGAP2 FANCB WDR73 PIGV FXR1 OSGEP RAD51 HP_FETAL_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_POLYURIA SLC12A1 CLCNKB CLCNKA BSND ITGA8 FGF20 KCNJ1 MAGED2 GREB1L RET HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS ANKRD11 ATRX ALX3 STAG1 GATAD2B CHSY1 DNMT3A HP_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODONTIA BRF1 GJA1 GRIA3 MSX1 MBD5 TP63 KCNK9 CTCF MGAT2 VPS13B IRF6 ANKRD11 SMOC1 DHX37 NECTIN1 FARS2 BRCA1 COL11A1 TBC1D24 KCNMA1 CDK10 HP_MOOD_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOOD_CHANGES SLC6A17 VPS13A GABRG2 PDE11A AIP SRPX2 PRKAR1A GNAS USP8 NAGS DMPK GRIN2A GALC TUBB3 HP_RECURRENT_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SKIN_INFECTIONS RFXANK DOCK8 CD3D DSG1 KRT1 ELANE BLNK IL2RG SRP54 CHST14 CD79A PSEN1 CD247 STAT1 FOXP1 GJC2 EPG5 CD3E XIAP NCF1 IGHM CIB1 CIITA LAMA3 AIRE KRT14 MBL2 GJB2 CFI FERMT3 UROS BTK HYOU1 ITGB4 PSTPIP1 ITGA6 RFX5 NFE2L2 LAMC2 CDH23 FOXC2 JAK3 CYBA PGM3 IL17RA DCLRE1C TMC6 CD79B IGLL1 SHANK3 ZNF341 TCIRG1 KRT5 RFXAP CARD9 PSENEN NFKB1 GINS1 IL10RA STAT3 NCF2 CTSC FOXP3 SP110 CLEC7A POLR3A ZAP70 IL17F FERMT1 TCF3 TFRC CYBB PIK3R1 DSE CARMIL2 UBE2A TMC8 LYST LAMB3 GJB6 LRRC8A BTD COL7A1 GATA1 USP8 GFI1 IL7 MYD88 HP_REDUNDANT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_SKIN EFEMP2 MRPS16 FGFR3 CHST14 GGCX LIMK1 RFC2 ATP6V1A SLC6A8 HPGD FBLN5 ATP6V0A2 SLC25A24 KRAS GTF2I TWIST2 FGF20 TBL2 ALDH18A1 BRAF HRAS RIN2 SUZ12 ELN MAP2K2 RPS6KA3 PITX2 NAA10 CLIP2 KIAA0586 VAC14 ANTXR1 GPX4 AEBP1 DSE EXT1 TRPS1 MRPS22 GORAB ATP6V1E1 CSPP1 PTDSS1 SLC2A10 NPR2 MAP2K1 EZH2 BAZ1B CEP55 TBX15 NDUFB11 FOXC1 ADAMTS2 PEX1 GTF2IRD1 EED ATP7A FIG4 NSD1 PYCR1 COL3A1 CD96 HP_ROTARY_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROTARY_NYSTAGMUS NPHP4 TELO2 GJC2 PLP1 PNPO PPP2R5D GFER SLC16A2 MPC1 HP_BELL_SHAPED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BELL_SHAPED_THORAX COL11A1 CSPP1 CEP120 COL11A2 CANT1 IFT172 TBX15 DDRGK1 INPPL1 BMPER PAM16 UBE3B SNRPB FGFR2 WDR34 DDR2 PEX1 KIAA0586 ANTXR1 SLC26A2 XYLT1 HP_SELECTIVE_TOOTH_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELECTIVE_TOOTH_AGENESIS WNT10B BLM FLNA ATP6V1B2 RIPK4 NECTIN1 DLX4 BCOR NEK1 GJA1 DLX3 FGF3 DDX59 EIF4A3 TP63 CDH3 EDA GREM2 GLI2 NAA10 CEP152 BMP4 CDH1 MSX1 ATR DLG1 IRF6 B3GLCT ARHGAP29 HP_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA PLEC APCDD1 KLHL24 EDARADD MPLKIP RAG1 FGFR1 ARHGAP31 NOP10 TERT KRT81 LSS TP63 LAMA3 PNPLA6 ERCC5 PADI3 ALMS1 HR KRAS SLC39A4 MBTPS2 FLI1 PORCN RAG2 PKP1 GTF2H5 WRAP53 SLC29A3 DMXL2 FZD2 HLCS GNA11 DSG4 LMNA ATR HFE UROS TTC7A NSDHL XPC RHOA DSP SMARCA2 AEBP1 GJB6 HRAS ROR2 ABCD1 EPS8L3 RIPK4 GTF2E2 GJA1 RNF113A RPL21 ZNF341 KDM5C NXN MGP VDR CD28 LIG4 SNRPE EDNRA DOCK6 IL7R GJB2 FTL COL7A1 IKBKG CLDN1 HTRA1 CERS3 TINF2 COL3A1 NRAS ALOXE3 SOX18 DLL4 NFKB2 KRT14 PEX7 ADA AHSG COL17A1 PTPN22 LAMB3 UROD RBPJ ABHD5 RTEL1 HLA-DRA KRT86 OFD1 CTLA4 MMP1 SPP1 DCAF17 EXOSC2 UBR1 EBP DCLRE1C FAM111B KRT85 TGM1 SLITRK1 CSTB ACVR1 SASH1 KRT16 XPA ERCC3 LIPH ZMPSTE24 ALOX12B LAMC2 DVL1 FOXN1 KRT83 RNU4ATAC PNPLA1 ANTXR1 NPM1 STAT4 AIRE RMRP PRKACA UQCRFS1 JUP TRPV3 NOTCH1 DMPK DKC1 BTD RBM28 BCS1L DVL3 BTNL2 NECTIN1 GJB4 GJB3 ERCC2 ECM1 CHD7 IRAK1 ABCA12 TERC NECTIN4 CASR KRT17 TARS1 IL2RG BMP2 NFKB1 COL18A1 DDB2 WNT5A ALX4 PARN EOGT FOXP3 WNT10A KDSR RIN2 PIK3R1 STUB1 AP1B1 ITGB4 IL2RA NIPAL4 PERP NHP2 HLA-DRB1 KRT74 EDAR BTK USB1 TGM3 ERCC4 KRT6B CTC1 LPAR6 MCCC2 ITGB6 KRT6A RECQL4 TNFRSF1B SLC30A2 HP_ABNORMALITY_OF_THE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NAIL PPM1D NHP2 KRT14 PIGY CTBP1 LRP4 LIMK1 KLHL24 EDARADD MPLKIP TSC2 C15orf41 IL17F EDAR WDR35 ARHGAP31 INPPL1 TERT AFF4 ARID1B PTEN KRT81 IL36RN STK11 TP63 HEPHL1 LAMA3 GPC3 KRT1 PEX7 COL7A1 ELN CTSK SOST MBTPS2 FOXN1 LPAR6 PORCN KRT5 ATP6V1B2 DYNC2LI1 PKP1 WRAP53 FZD6 STAT3 TSC1 NSD1 FGFRL1 KCNH1 IFT122 GNA11 SHOC2 HCCS ATR COL11A2 ITGA6 TTC7A NSDHL DSP SOX11 COL17A1 LAMC2 SMARCD2 ZSWIM6 EVC ACVRL1 TELO2 ROR2 FGFR1 GJA1 SHANK3 NECTIN1 HRAS SLC25A22 RNF113A TFAP2A PLEC PIGQ SRCAP KRT6B IFT43 KRT16 DOCK6 PHYH GPC4 INSR CERS3 DVL1 BRAF PLAGL1 LMNA MCTP2 RSPO1 DLL4 CKAP2L ABCA12 FOXC2 RERE NFKB2 KDM1A MAPK1 LAMB3 NOG UROD RBPJ GJB6 TAF1 EVC2 UBR1 DLX3 EXT2 NTNG1 MMP1 HYMAI VEGFC WNT7A FGFR2 TREX1 STAMBP ACTL6B ERCC2 WNT5A TINF2 LMX1B MAF GTF2IRD1 LETM1 PIGV CTC1 HGD TGM1 RIPK4 RFC2 DMXL2 FLNB CSTB GJB2 RAB3GAP1 FLT4 ZMPSTE24 PPP2R5D DPF2 ALOX12B HFE CARD14 NSD2 GDF5 IRF6 STIM1 KRT9 PDE4D ATP2A2 CLIP2 PNPLA1 KRT86 ACTG2 PIGP NPR2 ERCC3 WNK1 ITGA3 JUP WNT10A TRPV3 NOTCH1 DKC1 BCR GJC2 RETREG1 AKT1 STXBP1 DVL3 CD151 KDF1 SRY GJB4 CPLX1 NSUN2 GJB3 TRRAP GNAO1 DNAJC21 KIF22 ACD EZH2 DPM1 GSN PEX6 TBC1D24 SOX4 TARS1 TRPS1 SULT2B1 SLC25A24 ANAPC1 FOXP3 RTEL1 ARID1A SMARCAD1 KCNA1 ABCA1 TCTN3 NTRK1 SMARCE1 RAB3GAP2 POLR3A CPT2 IL17RA SF3B1 EFNB1 CDKL5 TERC RECQL4 TET2 LORICRIN PIGN ITGB4 NIPAL4 UMPS ARID2 RUNX2 IHH NEUROD2 KRT74 KRT83 CYB5R3 PRKAR1A ARX FTO ATP6V0A2 KRT6A SLURP1 TNFRSF1B SATB2 LIPN PGAP2 SDR9C7 SLC35D1 RNU4ATAC PPP1CB SMARCC2 KRT17 IL17RC NOP10 ZBTB20 SETBP1 SMARCD1 RPS6KA3 SCN9A FGF9 SLC39A4 SLCO2A1 DLX5 COX7B B3GALT6 CYP4F22 GTF2H5 GLI3 DSG1 FZD2 ADAM17 EDA DSG4 FLNA KANK2 ECE1 HOXA13 UBE2A ADNP TRAF6 BMP2 HLA-C TBX3 GPR101 SCN2A EOGT FERMT1 RAB7A FIG4 GTF2E2 CDH1 MACROH2A1 CASK SHOX NXN CD28 CTSC IKBKG KRAS MLXIPL AIP TAT SMARCB1 ALOXE3 EED MECP2 SOX18 CYB5A GABBR2 APC2 PIGA APC AP1S3 PTDSS1 IL11RA MAP2K1 HUWE1 BAZ1B SMARCA4 BMPR1B UBA1 CTLA4 TRIM8 RSPO4 BHLHA9 ADAMTSL2 KCTD1 PLOD3 TRAF3IP2 FAM111B KRT85 LBR NOTCH2 NLRP1 ENG SASH1 MSX1 LIG4 GTF2I WDR19 IFNG ALG3 BMPER PQBP1 IFT52 MAP2K2 KCNN3 KIF15 CRKL ANTXR1 NPM1 AIRE GRHL2 PIGO KIF1A DPH1 PLCD1 RLIM PIGL GLI1 CAST PRKD1 CSTA EBP PITX1 IFIH1 POP1 ORC1 NECTIN4 CASR POC1A OFD1 CAMK2G WASHC5 AAGAB COL11A1 CCDC22 COL14A1 PNKP BMP4 KIF11 MVK STING1 PARN SIK1 TBL2 KDSR PEPD SUZ12 ATL1 DHX37 PIGW POMP VAC14 FHL1 CDSN DST AP1B1 PERP COL2A1 CWC27 HPGD TBX4 USB1 NDUFB11 FTL CLEC7A PGAP3 HOXC13 SETD2 PEX1 SCN1B WDR73 FUCA1 ACAN HP_CONCAVE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NAIL MSX1 EDA HRAS ERCC3 TARS1 MPLKIP LMX1B HOXC13 ERCC2 SLURP1 TRPS1 PLCD1 GTF2E2 GTF2H5 RNF113A HP_ABNORMALITY_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LARYNX RSPO2 SOX4 PFN1 MLH1 WNT3 DHCR7 MATR3 HAAO MGP PCNT DAO KRAS KRT16 AFF4 IFT80 EIF4A3 MYMK TONSL MEIS2 SOX9 FGFR2 DCTN1 MAP3K7 LRP4 EP300 TBK1 FLNB GABRG2 PON2 HYLS1 EXTL3 SRPX2 PON1 TREM2 COL12A1 COMT POR CASR PORCN SLC26A2 GRIN2A AMER1 KCNMA1 LAMA3 GLI3 PPARGC1A SERPING1 SF3B4 JMJD1C LTBP3 NEFH HNRNPA1 SOD1 HSPG2 GMNN FIG4 WDR35 KAT6B PRPH RPL10 TSPYL1 KANSL1 HIRA BTD MSH2 SCARF2 PUF60 RREB1 FOXE1 VCP VPS13B LAMC2 PTH1R TARDBP FUS SYT1 FRAS1 SEMA3E UBE3B TBX3 GLE1 CREBBP GRIP1 CHD7 BRF1 PLG LMNA ORC6 KIF22 CHCHD10 TBX1 WDR34 PON3 SNIP1 SCN4A NEK1 SETBP1 KAT6A LONP1 HOXD13 KRT17 MT-CYB OPTN MKS1 CAT CHMP2B ANG WRN C9orf72 GLT8D1 VAPB WDR60 CFAP410 UNC13A FREM2 C2CD3 ATP6V1E1 MSH6 DYNC2H1 TCTN3 PRRX1 NFIX RSPO1 POLR3A ARVCF LRP12 FERMT1 APC ANO3 KIF7 ANXA11 AHDC1 LAMB3 ERBB4 INTU HDAC4 PSAP UBQLN2 SPECC1L GALC SEC24C TAF15 NIN EDN1 SQSTM1 RAI1 EPHA4 ATXN2 SMAD4 KRT6B PRMT7 GP1BB LTBP4 TAF1 KRT6A UFD1 EFL1 FLNA ASAH1 CCNF LBR HP_LARYNGOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOMALACIA KAT6A SOX4 HOXD13 KRT17 PCNT KRT16 AFF4 WRN MEIS2 SOX9 FGFR2 LRP4 ATP6V1E1 EP300 TCTN3 NFIX POLR3A ARVCF TBX1 COL12A1 COMT POR APC KIF7 KCNMA1 BRF1 RPL10 JMJD1C AHDC1 HSPG2 GMNN HDAC4 PSAP GALC SEC24C KAT6B KANSL1 HIRA SCARF2 RREB1 VPS13B SYT1 SEMA3E UBE3B KRT6B TBX3 CREBBP CHD7 PRMT7 GP1BB LTBP4 KRT6A LMNA HYLS1 ORC6 UFD1 EFL1 SETBP1 HP_LARYNGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STENOSIS FRAS1 FLNB LAMB3 GRIP1 EXTL3 KIF22 FERMT1 SLC26A2 LAMA3 MYMK LAMC2 FREM2 SMAD4 HP_VOCAL_CORD_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARESIS GDAP1 TRPV4 SLC5A7 LONP1 MATR3 MFN2 PRX HP_VOCAL_CORD_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARALYSIS MDH2 SDHAF2 SDHD DNMT3A TRAPPC12 RET MATR3 ELN DLST SDHB TRPV4 VHL MLXIPL EMD FHL1 NF1 SDHA POLA1 TMEM43 PMP22 MAX KIF1B SLC52A3 DCTN1 PRX SYNE2 EPAS1 MYCN SLC25A11 MFN2 SLC5A7 ATXN3 DKK1 GDAP1 LMNA SDHC FH LONP1 TMEM127 TRIM2 SETBP1 SYNE1 HP_SUBGLOTTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBGLOTTIC_STENOSIS MAP3K7 FRAS1 LTBP3 GRIP1 EFL1 NIN TBX3 AFF4 SNIP1 TONSL FLNA FREM2 HP_ABNORMALITY_OF_THE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VOICE SMS SMARCAL1 DNAJC13 LIMK1 FMR1 MPLKIP FGFR1 GBA ARID1B NF1 LTBP3 GPC3 KISS1 ELN UPF3B GABRG2 MYH3 PWAR1 TBP ASAH1 PRPH SYNE2 SPRY4 TACR3 FGF8 KMT2B FGF17 MAPT SH3BP2 TBX1 TRPV4 KCTD17 CHRNA1 GFPT1 KANSL1 NR4A2 ANOS1 DGCR8 MEGF10 LMNA SLC5A7 TGM6 SHOC2 GIGYF2 COLQ ABAT FAM111A MORC2 NLRP3 ATXN3 DYNC1I2 HRAS RNF113A SETBP1 RAI1 SYNE1 ATP6AP2 TFAP2A XRCC4 SRCAP ESS2 GNAS COL13A1 CRYAB GPC4 WRN GNRHR WDR11 DNAJC6 PAX8 TREX1 SDHA AFF2 SLC19A2 AGA FTL RAD21 TSHB ARVCF EXOSC9 LRP12 C1R GHR DGCR6 NDN SELENON LAMA2 IGHMBP2 IQSEC2 PMP22 LAMB3 NECTIN1 FLRT3 SLC25A11 SEC24D KISS1R CCDC141 PODXL SLC18A2 TSPYL1 GNPTAB RNASEH2B IL1RAPL1 PLEC OCRL DGUOK COQ9 MAGEL2 TUBB4A MYH14 SMC1A HS6ST1 GTF2IRD1 MT-ND5 SDHC UFD1 SNORD115-1 ZFYVE26 MED12 SLC2A3 DLEC1 MYO9A RARS1 SDHD PREPL RET RFC2 INPP5K TTC19 SIL1 AGRN DLST ACTA1 RAF1 SNAP25 SNCAIP LRRK2 DCC FOXP1 SOX10 B3GALNT2 TMEM43 PROKR2 ERCC4 DEAF1 SPG7 ITPA PTPN11 SIN3A SNRPN CLIP2 COMT HESX1 MYCN CHRNE JMJD1C SRD5A2 ERCC3 TP63 MGME1 ATP6V0A2 ERLIN2 HIRA MSX1 ADAR SOD1 LAMC2 DKK1 IFIH1 ATP5F1A TGFBR2 STAG2 NLRP1 IDS SLC25A1 ECM1 DUSP6 SDHB RYR1 FKTN TPM3 EZH2 NALCN MDH2 SDHAF2 GNAI3 DNMT3A TRAPPC12 POLG TARS1 LMNB1 CHD7 KCNK9 ASPA STX16 FBXO7 PRKRA AP4E1 RNF6 VPS13B MT-TL1 ACAN RIN2 BRAF LEMD3 MT-ND3 RNASEH2C DGCR2 ALPL SLC18A3 TK2 SNCA TTN MT-TW CDH1 MT-ND6 SLC52A3 PWRN1 SRPX2 PPP1R15B KMT2A AR NOTCH3 PIGN BLM GNAL LAMA3 SPECC1L SEC24C BSCL2 PPM1B ALDH18A1 IGF1R TPM2 EIF4G1 NSMF DLX4 GRHL3 SYT2 LAMB2 CWF19L1 TOR1A HDAC8 DCTN1 P4HB CAMKMT IRF6 LIFR NEFH VAMP1 MGP KRT17 ADH1C VHL POLA1 ATXN8OS AMER1 NIPBL GTF2H5 MYOT EDA MATR3 HSPG2 MYPN HTT MFN2 RREB1 PROK2 PLCB4 DDRGK1 SPEG MT-ND1 FH IL17RD THAP1 LONP1 SAMHD1 NPAP1 WWOX GPR101 PHF8 SMC3 TRIM37 GTF2E2 TRIM2 TRMT10A CIZ1 SEMA5A NRXN1 MLXIPL COQ2 POMGNT1 RBBP8 AIP MT-ATP6 CYP27A1 TRH TWNK MYH7 POMT1 BIN1 EPAS1 FKRP BAZ1B VPS35 CHAT HACD1 FBN1 CDC73 SERPING1 SYNJ1 GDAP1 ITGA7 PNPO GMPPB FOXP2 HERC2 ZDHHC9 ADAMTSL2 GP1BB REV3L NONO DLG1 TRIP4 SLC26A2 ARHGAP29 NOTCH2 PANK2 GNE PCNT PLXND1 B4GALNT1 EIF4A3 GTF2I EMD SCN4A ATXN2 TAC3 GRIN2A COL6A3 PRX LARGE1 PQBP1 SPART SLC3A1 CTNND2 THRA MKRN3 ERCC2 CRLF1 ORC4 TMEM127 NSD1 POC1A FLII SETD5 MYL2 MECP2 SNORD116-1 MT-ND4 TRPS1 CNTNAP2 OPA1 SERPINH1 TBL2 POLD1 FHL1 UBB SUZ12 MT-TK BMP4 MAX TSHR KIF1B MT-ND2 GALT GMPPA SEMA3A RNASEH2A MT-TV GNRH1 PYROXD1 SMAD4 POMT2 FLNA ZMPSTE24 MAP3K20 SNRPB DNAJB2 EED FEZF1 BAG3 GLUD2 HP_HOARSE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_VOICE LIFR SDHAF2 LIMK1 MATR3 RFC2 GNE ELN KRT17 GPC4 MLXIPL ARID1B AIP GTF2I TBL2 LTBP3 PAX8 GPC3 TREX1 TRH FBN1 ACAN AFF2 SLC19A2 AGA SUZ12 LEMD3 RNASEH2C MYH14 TSHB DEAF1 GNPTAB TSHR CLIP2 ASAH1 C1R LAMA3 RAI1 PIGN IQSEC2 EDA LAMB3 RNASEH2A EZH2 BAZ1B SPECC1L TRPV4 MFN2 SDHD SIN3A CDC73 ADAR SERPING1 RNASEH2B LAMC2 DDRGK1 IFIH1 SPART FLNA SAMHD1 THRA ECM1 NLRP1 IDS GPR101 GTF2IRD1 SDHC EED HRAS NSD1 SLC26A2 FLII HP_NASAL_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_SPEECH SMS MYO9A LIFR PREPL MATR3 VAMP1 MGP AGRN PCNT SNAP25 NONO UPF3B TFAP2A SPG7 GRIN2A MYH3 SNRPN LMNA PWAR1 TP63 COMT AMER1 MYOT JMJD1C NECTIN1 SLC18A2 TPM2 TBX1 MED12 MYPN MGME1 ATP6V0A2 KANSL1 HIRA MSX1 PQBP1 RREB1 TPM3 DGCR8 MEGF10 SLC5A7 SHOC2 SLC3A1 NPAP1 MKRN3 CRLF1 SLC25A1 PHF8 DYNC1I2 NALCN SRCAP ESS2 COL13A1 SNORD116-1 CHAT UBB DGCR2 SLC18A3 BMP4 ARVCF LRP12 CDH1 PWRN1 SRPX2 DGCR6 NDN SELENON IQSEC2 GMPPA SEC24C PPM1B PYROXD1 SIN3A IL1RAPL1 PLEC DLX4 GRHL3 ZMPSTE24 HERC2 SYT2 ZDHHC9 SNRPB MAGEL2 GP1BB UFD1 DLG1 SNORD115-1 IRF6 BAG3 CAMKMT ARHGAP29 HP_WEAK_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_CRY MYO9A CHRNE MYL2 NIPBL SELENON VAMP1 COL13A1 AGRN LAMA3 SPECC1L ACTA1 RYR1 CRYAB ASPA TPM3 CHRNA1 GFPT1 CHAT SNAP25 HACD1 OPA1 TPM2 VPS13B ITGA7 SLC5A7 SYT2 COLQ MAP3K20 LAMB2 COQ9 SLC18A3 EXOSC9 MYH7 SLC25A1 FKTN TRIP4 LAMA2 ASAH1 IGHMBP2 HP_HOARSE_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_CRY SPECC1L PAX8 ASAH1 TSHB PIGN LAMA3 TSHR HP_DYSPHONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHONIA MYO9A PANK2 RARS1 SDHD CRYAB RET LIMK1 NEFH RFC2 MPLKIP INPP5K VAMP1 TTC19 SIL1 AGRN DLST SDHB SDHAF2 B4GALNT1 VHL SNAP25 GTF2I NF1 ELN CLIP2 COL6A3 PRPH GTF2H5 KMT2B EDA ERCC3 HSPG2 MFN2 KCTD17 MGME1 ERLIN2 SOD1 SLC5A7 SPEG TGM6 SDHC FH THAP1 TUBB4A ERCC2 SLC25A1 BIN1 TMEM127 GTF2E2 GNAL RNF113A CIZ1 MDH2 DNMT3A TARS1 GNAS COL13A1 LMNB1 KCNK9 STX16 COQ2 PRKRA CHAT TBL2 CYP27A1 SDHA FTL TWNK SLC18A3 MAX TTN KIF1B AR NOTCH3 POLG EPAS1 DGUOK BAZ1B SLC25A11 ALDH18A1 RYR1 SYT2 DNAJB2 NONO GTF2IRD1 ZFYVE26 ASAH1 DCTN1 HP_HIGH_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PITCHED_VOICE TRMT10A BLM XRCC4 SMARCAL1 SRCAP FMR1 SEMA5A HSPG2 SEC24D PCNT BSCL2 GHR RIN2 IGF1R ARID1B RBBP8 SERPINH1 TRIM37 POLD1 SELENON ZMPSTE24 PPP1R15B CTNND2 ADAMTSL2 TTN MYH7 ERCC4 ITPA FAM111A LMNA MORC2 P4HB ORC4 MED12 POC1A HP_WEAK_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_VOICE MAPT ATP6AP2 DNAJC6 GBA DCTN1 SYNJ1 HSPG2 POLG MATR3 TK2 TBP SLC52A3 ADH1C PODXL ATXN8OS TRIM37 SNCAIP NR4A2 GLUD2 ATXN2 HP_PREMATURE_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_BIRTH RPL10 PEX14 ATP8B1 AIMP1 TRIP4 KCNJ1 PEX11B SLC17A5 ARHGAP31 ACTA1 STRADA ZMPSTE24 COL1A1 PEX16 KLHL41 CLCN7 ALB FLNB MAP2K2 PNPO FOXH1 MUSK DHCR7 CLCNKA BRAF RNU4ATAC CRKL CDON SHH NIPBL LMOD3 SF3B4 TMEM70 WDR4 PEX1 NEB SLC27A4 KLHL40 COL1A2 PEX5 DHPS OSGEP NOTCH1 NUP133 GBA BCR PTH1R COL5A1 CRB2 PEX6 PEX26 ITGB4 NDUFB11 GLI2 ADAMTS2 HYLS1 WDR73 ABCA12 SMC3 HRAS MAGED2 ZIC2 PEX19 PLEC SETD5 PTCH1 HOXD13 TP53RK FLVCR2 DOCK6 PEX10 FLI1 MED12 FIG4 ESCO2 NUP107 CYP11A1 KRAS SIX3 EOGT GAS1 NLRP3 FBN1 COL3A1 NODAL ABCB4 RAD21 PEX13 DLL4 SLC12A1 TPRKB DISP1 MYH7 KMT2A KIF7 TGIF1 PEX12 MAPK1 COL11A1 IGHMBP2 ASCC1 COL5A2 SLC26A3 MAP2K1 NDP RBPJ FZD4 LMNA PEX3 SUFU SARS2 FGF8 CLCNKB DLL1 TPM3 PEX2 SMC1A TSHR RPS19 BSND LAGE3 HDAC8 NDUFB3 TDGF1 LRP5 FGFR1 HP_BREECH_PRESENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREECH_PRESENTATION ACTA1 LMOD3 CRTAP MYH3 SHPK COL1A1 KBTBD13 MKS1 TPM3 COL1A2 DHCR7 NEB TPM2 PEX1 KLHL40 MYPN KLHL41 OPA1 SLC26A2 ORC1 HP_ABNORMAL_HEART_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_MORPHOLOGY CTBP1 MICOS13 DSG1 INSR IL17F AMMECR1 FKRP KCNAB2 ARHGAP31 TCOF1 MT-CO1 TSFM EPCAM DNAH1 EYA4 UPF3B KCNJ11 SIX3 ECHS1 NDUFS7 NDUFAF1 NDUFV2 MYLK DYNC2LI1 MFAP5 NSD1 SHOC2 HCCS DMD GLA CC2D2A CCR1 MT-TL1 TTC7A TMEM43 PTCH1 NDUFS3 DSP B9D1 CCDC174 TTPA FHL2 GBA MYBPC3 ATP6AP2 CEP57 ROR2 MT-TT XRCC4 ESS2 BSCL2 PIEZO2 BCOR BBS2 TCTN2 PHYH MRAS SLX4 CHRNG KMT2D ACADVL SARDH TREX1 SLC19A2 ABCG8 HGSNAT COL2A1 NFIX BUB3 ARL3 AKT3 FCGR2A WDR60 FOXC2 ATP5F1D FANCI FGFR1 TNNT2 LYST BRF1 NDUFV1 NBAS RAI1 FOXF1 EVC2 WNT4 MMP1 ZFPM2 SOX9 FGF8 SDHA EBP LZTFL1 TNNI3 LTBP4 UFD1 LETM1 NDUFAF3 TDGF1 KIAA0586 TMEM126B MYOZ2 HNRNPA2B1 SH3PXD2B NDUFS2 ACTC1 SH2B1 FOXJ1 FANCE COX6B1 PCCA WDPCP GANAB RAF1 PPP2R5D DNMT3A FGFR2 COX14 MT-TW EP300 DNAL1 ANKRD11 EXTL3 ITPA TAF1A MMP2 PYGM FKTN PIGP MIB1 ZFP57 TWIST1 IL23R SMAD4 ERCC3 EFTUD2 DCHS1 ALPK3 PEX5 ATP6V0A2 SOS2 DMPK CAP2 ADAR BCR CEP41 IFIH1 FBN1 CCDC40 MRPL3 MSH6 CREBBP OTUD6B TPK1 DNAI2 PKD1 ACADM HBB IRAK1 ATRX TPM3 MT-ND6 RRM2B NSD2 ADAMTS10 PEX2 HMGCL MAD2L2 ZMPSTE24 MED12 SLC25A3 LARS2 VPS13B NODAL POMT1 GJA8 TANGO2 KCNA1 PEX13 DGCR2 KIAA1109 NEK1 NKX2-1 MTFMT MEOX1 NAA10 TGFBR2 NDUFB3 XYLT2 PBX1 CDKN1C ERMARD PIGN PIGT PKD1L1 RPL10 COL5A2 ABL1 RIT1 PYGL JAG1 ACAD9 CHRM3 CDC45 CCDC114 TNFRSF11A TAPT1 DLL1 GDF1 TGFB3 PALB2 PDE6D ABCC9 SOX4 PRDM5 PRDM16 ACSL4 MYO18B MCIDAS ABCC8 STXBP1 STRADA DTNA PMS2 A2ML1 ABCC6 TACO1 NUP188 POLA1 MT-TF RPS6KA3 ALMS1 CCDC28B MT-ND3 COG7 PIGL CPT2 AMER1 FGFR3 MYOT MRPS22 TBCK CANT1 OFD1 DCAF8 RREB1 HOXA13 TPM1 SELENON TSC2 NPHP3 LBR CFTR PAH PEX7 C1QBP WASHC5 CFAP298 SCN2A PEX3 NAGA TMEM216 FAT4 EOGT TMCO1 MMUT ALG12 DES ACTB GLI3 PEX19 HGD NDUFS1 NXN NID1 TBX5 LMOD1 GALNS LOX MT-CYB FBLN5 GATA4 NAGLU COA8 PPA2 TMTC3 RECQL4 FLT4 TAB2 CCDC39 ARMC4 HLA-B NKX2-5 PSMD12 ACADL POR MMP21 DISP1 PRG4 AEBP1 LRP2 DNAI1 MYH7 FLNA PTPN22 SEMA4A TWNK ACVR2B MYL3 FLAD1 CALCRL ATIC CCBE1 RYR1 FLNC MKS1 ZDHHC9 TBX4 UBR1 GP1BB NEDD4L PIK3CA SBDS MIPEP SLC12A3 RAD51 TAZ TET3 ATN1 ANO5 PEX11B PCNT COL3A1 SLC17A5 ADAT3 IDUA BMPR1A HLA-DRB1 EXT2 SMC3 EPG5 HRAS KYNU PIK3R2 HADHB MAP2K2 PSEN2 CLCNKB ESCO2 BRAF CRKL FMR1 MIF SCN5A STAT4 CDK13 UQCRFS1 TPM2 TBX22 RLIM ADAMTS3 RAD51C CDH23 NDUFS4 LMNA HBA2 TTN CDC42 TMEM67 TBX1 CD96 LRRC6 MLH1 DPH1 SETD5 CAV3 MYL2 LZTR1 TRAIP CCDC22 TKT NEXN KIF11 POGZ MT-ND4 MGAT2 PPP2CA SGCG CNTNAP2 ASXL2 PEX10 PRKAR1A TTC25 VCP FOXRED1 CDK10 POLG NDUFB9 RNASEH2A CBS MT-TV TGFBR1 NDUFB11 AHI1 RRAS KIF7 MAT2A CACNA1D LACC1 RPL11 CITED2 KDM6A TBX3 CLIC2 NUBPL SNX14 ROBO4 RSPH1 LIMK1 LIPT1 PRRX1 PSEN1 AFF4 SLC22A5 ARL6 ELN NDUFS8 CEP55 GBE1 POLR1A SYNE2 MT-TC TSC1 FGFRL1 FUT8 NRAS DNAH9 SALL4 SAA1 HADH RSPH4A NSDHL KANSL1 FHL1 AGK CCDC65 MT-TQ MYH11 SPECC1L CACNA1C SYNE1 MYMK DOCK6 MYSM1 VCL CTCF AGL TOP3A OTX2 NDUFB10 PLAGL1 SOX2 SKI MLYCD AGGF1 NOD2 DLL4 RERE MAPK1 MASP1 LAMA2 TMPO CTU2 TNNC1 TGFB1 SLC25A4 FIBP DNAAF6 FOS CPLANE1 JPH2 HFE KAT6A C2CD3 SPP1 IGF2 STAMBP HLA-DPB1 PPARG PRKAG2 GLRX5 CLN3 ANK1 ARX CCDC103 MT-TH PCCB TMEM237 PEX14 MYLK2 IL12A ERCC4 DMXL2 FLNB FCGR2B HAND2 ACTA1 PEX12 GATA6 CRYAB SRP54 SMAD3 NDUFA12 MYH6 POMK ALG1 FUCA1 SKIV2L COA3 ENPP1 MGME1 UMPS CHKB BRCA2 LAMC2 NELFA SYT1 NR2F2 TRRAP BRCA1 PRTN3 CSPP1 WDR35 ZNF469 ZEB2 HOXD13 GAA TARS1 BMP2 COX15 PLVAP HJV SON TERT SLC25A24 AHCY COL5A1 NUP107 KCNQ1OT1 ATP6V1E1 NDUFA10 ACAD8 CAV1 RNASEH2C IL17RA PIEZO1 CDKL5 BUB1 TKFC SUFU MT-CO2 DNAAF5 COX20 TFAP2B USP9X INTU DOLK DSG2 HAMP CCDC151 SPAG1 HSD11B2 DNAAF1 COL7A1 AARS2 SCO1 TRIP4 ADCY5 NDUFAF6 PHGDH PPP1CB ARID1A HNRNPA1 SPTB PGM1 G6PC3 GATA5 KAT6B LAMA4 RBM8A GDF6 SRCAP TCAP HADHA KRAS COX7B PET100 PTEN ABCA1 TXNRD2 CENPE MYPN NPPA SCN1B SLC25A20 KLHL41 WARS2 ZNF148 ARL2BP ECE1 FRAS1 HIBCH SEMA3E FANCF NECTIN1 TGFB2 CHD7 MT-CO3 GPR101 RAB3GAP2 ZIC2 RSPO2 TP63 SGCB SPEF2 FANCG NIPBL YY1 ASXL1 KIAA0556 SLC2A10 COQ7 AIP NDUFAF5 ALDH18A1 RPL27 INS TNFRSF1A RPL15 TRAF7 APC2 TBX20 PIGA PNPLA2 GTPBP3 TFR2 SNX10 CBL HACD1 RPGRIP1L TRIM8 POMT2 SLC29A3 PKD2 MT-TN SMO NOTCH1 THOC6 TRAF3IP2 FAN1 NDUFAF4 VPS33A NOTCH2 DACT1 CHST3 DYSF BAG3 TTR YARS2 GAS2L2 EMD ANKS6 MC2R RASA2 DHCR7 FBN2 B9D2 LDLRAP1 GJA5 PTF1A EHMT1 KIAA0753 DNAH5 NNT INVS PQBP1 HEXB NDUFA2 KLF1 VIPAS39 KCNJ8 GLI2 KDM1A GYG1 XYLT1 HCN4 PACS1 PTPN11 PLOD1 SGCD MT-ND5 COL11A1 FBXL4 COL1A1 SMARCE1 TRIO TGDS DNAAF2 DNASE1 ARF1 WT1 VAC14 DNAJC21 CCNQ COL1A2 FXN CWC27 PEX16 NDE1 EIF2AK3 CLEC7A EVC TALDO1 MAP1B RPL26 CFAP53 USP8 ARID2 HAAO NEB NEK9 SGSH ARID1B CSRP3 GPC3 RRAS2 MEFV CTLA4 PDGFRA SACS BRIP1 DDX11 TPI1 BOLA3 MED25 TTC37 HSPG2 PEX1 MLH3 MSH2 EXT1 IL6 NCAPG2 GAS8 DGCR8 COLQ GJA1 COL11A2 MT-TK SDHB RNF113A SETBP1 SLC35A2 PIGQ CHST14 ACTN2 CHRND RPGRIP1 DLD INPP5E PDSS2 CKAP2L EDNRA KCNH1 MAP3K7 SMARCB1 COX8A PAX3 RAD21 DAXX C4A CEP290 FLCN PSMB8 FANCA DGCR6 WFS1 DSE NDUFS6 ARSB RAB23 TCTN1 NDUFA11 XRCC2 MPLKIP HYMAI ALKBH8 DNAAF4 LDB3 ARL13B AGPAT2 ATAD3A GNE PMM2 CEP104 GTF2IRD1 LARP7 SDHD FANCB LIAS SP110 FAS MYH3 DPM3 COL18A1 FANCM LDLR MEN1 CPT1A GPC4 DPF2 RYR2 ARMC9 POMGNT1 NEBL RBM20 CLIP2 GCK ALX3 COMT RSPH9 ERAP1 TAF2 PCGF2 NEU1 HIRA SRY CPLX1 PMS1 RAC1 TMEM94 VWF GNAO1 RPL35A SOS1 GSN DNAJB13 TBC1D24 TTC8 SIX6 BCS1L SLC4A1 BTK SMAD6 STRA6 RPS20 KMT2A RPS26 CCNO ACTG2 PIBF1 SLC7A7 NDUFA4 KCNQ1 IGF1R ALX1 LRRC56 KDM5B ALG8 SGO1 ERBB3 IFT122 HDAC8 MTO1 BMPR2 MT-ND1 CRELD1 RNU4ATAC MSX1 GPC6 MGP IL17RC IFT172 NDUFB8 ANKRD1 TCTN3 TRAPPC11 NDUFA13 CFAP221 B3GALT6 LAMA3 ZIC3 B3GLCT SALL1 STK36 GYS1 PUF60 ATPAF2 TXNL4A NME8 ARFGEF2 MT-TE UBE3B GATAD1 COQ2 NAXD COX10 MKKS RSPRY1 TRIM37 ALG9 FANCC JUP NKAP ACTA2 PRKG1 MYH8 SMPD1 NHLRC2 FANCD2 NF1 TCIRG1 SDHAF1 DVL3 POLG2 BAZ1B MT-TS2 PCSK9 SFTPB DNAH11 PPCS PIGO CFC1 NONO CLPB CAVIN1 TMEM126A FAH ZNF423 CDK8 STAT1 IFNG MAP2K1 HYLS1 KIF15 GNPTAB IGBP1 IL12B SPEG IRX5 SLC30A10 ZMYND10 NDUFA6 IFT81 SURF1 SF3B4 PIGV RPS17 EPHB4 PACS2 DNAJC19 TNNI3K NDUFA1 ERCC2 PLD1 PDHA1 CHRNA1 PNKP MT-ATP6 BBS1 GPX4 OPA1 SLC40A1 ATP6V1A SPTA1 CXCR4 GABRD ADK FGF23 SMN1 ATP5F1E RSPH3 SMARCA4 KIF20A HYDIN NOTCH3 KCNJ5 MPL SNRPB SETD2 RPS19 PDX1 FANCL EPB42 LAMP2 DDX59 MT-ND2 IL12A-AS1 FOXH1 MLX GMPPB MED13L MRPS14 SMC1A STAT3 MYRF MRPL44 MMP14 TRNT1 LIMS2 KLRC4 NDUFAF2 CRB2 PEX6 HSD17B10 WDR26 FADD SNIP1 SCO2 SLC25A22 MRAP HSPA9 CALM3 FLI1 TIMMDC1 NDUFAF8 GAS1 TMEM70 MEGF8 MCTP2 COQ4 ARVCF COG1 TGIF1 LAMB3 TNFSF11 RBPJ VPS33B CISD2 CLCN7 TBX2 RNASEH2B UBE2T MAF PLN COQ9 SLC19A3 CCND2 RBM10 STAR PORCN RFC2 MEIS2 FOXC1 FOXP1 LTBP3 COA5 XK GLB1 JMJD1C RPL5 LRP5 CEP120 AUTS2 CACNA1S IDS DSC2 STK4 BUB1B B3GAT3 YY1AP1 RMRP CSNK2A1 POLR3A TK2 PTCH2 ASCC1 PIGS TNXB SEC24C NEUROD2 FN1 TMEM107 FTO NDUFA9 LMBR1 LAMB2 TRMT10C DNAAF3 SHANK3 STAG2 RFWD3 ELAC2 PARS2 SGCA SMG9 CDON GTF2H5 CHD4 RPGR PEX26 SCARB2 GNS APOB NFE2L2 INTS1 GDF3 EXOC6B LONP1 SAMHD1 TRIP13 CFAP300 FIG4 GTF2E2 CASK IDH2 ZNF687 NRXN1 PKP2 MLXIPL RNASEH1 IKZF1 UBAC2 HES7 NEK10 UBE2A NSMCE2 ABHD5 ITGA7 HLA-DPA1 NEK8 RARB TLR4 TLL1 RMND1 NKX2-6 COA6 ADNP BICC1 FAM149B1 GATA1 ACADS RBCK1 GTF2I MID1 PAM16 KBTBD13 DNASE1L3 KCNE5 IL10 SHH D2HGDH LTBP2 VPS13A TMEM260 GLI1 TTC12 ABCG5 ARCN1 BIN1 ABCD4 HPS1 HNRNPU PTPN14 SIK1 TBL2 SIK3 IRF6 RNF135 HBA1 DRC1 GATA3 TMEM231 MAP3K20 FOXE3 SPATA5 GUSB HP_ABNORMAL_MITRAL_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITRAL_VALVE_MORPHOLOGY CHST3 PRDM5 LIMK1 RFC2 BICC1 FBN1 FBN2 RAF1 GANAB GTF2I ABCC6 LTBP3 HRAS TGFB2 ELN RPS6KA3 EXTL3 PTPN11 SACS GNPTAB KRAS MMP2 COX7B CLIP2 XYLT1 FMR1 DSE MFAP5 CLIC2 BRAF MMP14 RPL5 TPM2 HCCS MYPN ENPP1 PCGF2 PKD2 AEBP1 VPS13B TGFBR2 NKX2-5 TPM3 COL5A1 LMNA TTN VWF COL2A1 PKD1 COL1A2 FLNA XYLT2 IFIH1 PLD1 FIBP COL1A1 NOTCH1 GBA RYR1 HGD WASHC5 ZNF469 HCN4 CCDC22 PLOD1 B3GAT3 TAB2 MED12 MAP3K7 ANK1 MLXIPL SH3PXD2B BCOR TBL2 COL3A1 ATP6V1E1 SELENON SKI MCTP2 MYH7 MMP21 ZIC3 POLG CCNQ BRF1 COL5A2 TNXB CBS BAZ1B TGFBR1 DCHS1 GJA1 SLC29A3 NDUFB11 SMAD4 GTF2IRD1 SMAD3 HP_CONGESTIVE_HEART_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGESTIVE_HEART_FAILURE TRIP4 ADCY5 PRDM16 LIMK1 HNRNPA1 VHL SDHB SDHAF2 NDUFB8 DTNA AFF4 MT-CO1 SLC22A5 COL1A1 ELAC2 FGFR3 MAPRE2 ABCC6 NF1 COG7 ELN EYA4 ALMS1 PRKAR1A SURF1 HADHA PTEN TMEM127 NDUFAF1 GPR35 MT-TC CLIC2 PHYH PLOD1 GNA11 TRPM4 CP HFE FBLN5 GLA ACVRL1 MT-TK MT-TL1 CCR6 SDHD TMEM43 GDNF TTN ATP5F1A PSEN2 MT-TE SDHC FH LMNA NDUFB11 TCF4 MT-CO3 FLNA XYLT2 RAB3GAP2 DES TRIM37 SCO2 NDUFS2 TNNT2 HLA-DRB1 MECP2 FGD1 BSCL2 MYD88 TF MT-CYB MYSM1 PSEN1 TNNI3 MT-TV WRN TAZ TMEM70 STRADA SDHA AGGF1 MYH7 TPI1 PSMB8 DMD RET MST1 IKBKG PNPLA2 EPAS1 SLC2A10 GTPBP3 MYL3 BAZ1B NSMCE2 SLC25A11 SCN5A FOS MT-TQ RBM20 GNPTAB PPARG AGPAT2 PPA2 ACAD9 ADAMTSL2 TPM1 GTF2IRD1 CAVIN1 ENPP1 HNRNPA2B1 EFEMP2 VPS33A LDB3 MYLK2 RFC2 IRF5 KCNJ5 ENG DLST SLC17A5 MT-CO2 MT-TF CAV1 HBB GTF2I STAT1 GDF2 MT-TW GATAD1 EPG5 HADHB CLIP2 SCN4A XYLT1 FLNC GLB1 SNAP29 SMAD4 COL1A2 MT-TS2 CACNA1S DNAJC19 TNNI3K JUP HBA2 IDS IFIH1 MYH6 SCN1B CASR MDH2 CAV3 DNMT3A MT-ND5 BMP2 HJV ATXN7 PLN NKX2-5 SLC25A3 ATP6V1A TBL2 SELENON RYR1 FBN1 HBA1 VCL CEP19 VCP SF3B1 DSP MAX MYPN PEX7 KIF1B FGF23 GBA TET2 GJA1 NDUFAF3 FXN TUBB SGCD SLC25A26 CDH23 BAG3 HAMP ACTC1 MT-ND6 BCHE SLC19A2 RPS19 PRKAG2 CCN2 RASA1 MT-ND1 HP_TETRALOGY_OF_FALLOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRALOGY_OF_FALLOT RBM10 FANCE JAG1 NKX2-5 DACT1 GDF1 LIMK1 FANCM ZFPM2 RFC2 ERCC4 TBX1 NOTCH2 GATA5 KCNAB2 ARHGAP31 FANCL ARID1B CDK8 DDX59 RBM8A GTF2I RFWD3 ELN FOXH1 BRIP1 DDX11 PIGL GATA6 CLIP2 ALX3 COMT CDON SHH RNU4ATAC SALL1 CHD4 PRDM16 MYRF TTC37 SKIV2L BRAF SF3B4 JMJD1C CHD7 COX7B RPL5 GATA4 SALL4 TMEM260 NOTCH1 HIRA RAD51C PQBP1 BRCA2 RREB1 DGCR8 HIBCH SEMA3E FANCF ROR2 PAH TMEM94 NR2F2 GLI2 WASHC5 MKKS CITED2 BRCA1 CHRM3 FIG4 CACNA1C ZIC2 SLC35A2 EHMT1 PTCH1 NXN NID1 CCDC22 ESS2 FANCG RERE TAB2 DOCK6 MAD2L2 SLX4 FANCC SIX3 EOGT GAS1 TBL2 FLT4 NODAL FANCI DGCR2 PIGN CXCR4 FANCD2 ARVCF DLL4 WT1 STRA6 GJA5 GABRD FANCA DISP1 VAC14 FOXC2 DGCR6 TGIF1 UBE2A SKI SPECC1L RAB23 FOXF1 RBPJ INTU BAZ1B XRCC2 SEC24C FN1 COL2A1 SUFU ALX1 FGF8 UBE2T DLL1 RPL11 GP1BB GTF2IRD1 UFD1 PALB2 FANCB TDGF1 NKX2-6 FGFR1 PUF60 RAD51 CRELD1 HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY NDUFS1 LIMK1 LIPT1 TTR MPLKIP MICOS13 INSR NEB CPT2 TNNT2 PSEN1 FKRP LMNA KCNAB2 MYH7 SGSH FANCL EPB42 LAMP2 CSRP3 SLC22A5 TSFM MT-ND2 TNNI3 RAF1 GPC3 PEX7 MEFV ELN NDUFS8 EYA4 IL12A-AS1 PDGFRA MLX BRIP1 PCCB GMPPB KRAS ECHS1 TPI1 NDUFS7 NDUFAF1 NDUFV2 GBE1 RRM2B BOLA3 MRPS14 SMC1A SYNE2 MRPL44 HAMP TRNT1 LIMS2 NRAS SHOC2 DOLK HCCS HADH DMD GLA CCR1 MT-ND4 TMEM43 NDUFS3 PET100 KLRC4 NDUFAF2 FHL1 AGK HSD17B10 HLA-B MT-TQ MT-TK SDHB XYLT2 TTPA HRAS SCO2 NDUFS2 FHL2 GBA NDUFB11 RNF113A MYBPC3 SYNE1 MRAP MT-TT XRCC4 ACTN2 VPS33A DLD BSCL2 BBS2 KCNH1 CRYAB PHYH MYSM1 SLX4 PCCA VCL AGL GPC4 TOP3A TIMMDC1 NDUFAF8 NDUFB10 TMEM70 MT-CO3 ACADVL SARDH COX8A BRAF TREX1 DES SLC19A2 HGSNAT C4A MLYCD PEX1 COQ4 TPM2 SLC25A20 TCAP LAMA4 FANCA WFS1 ATP5F1D LAMA2 TMPO NDUFS6 ARSB TNNC1 FOXRED1 NDUFV1 PTPN11 FKTN NBAS SKI LAMB3 NDUFA11 SLC25A4 SELENON XRCC2 UBR1 NDUFAF4 FOS CISD2 JPH2 HFE RBM20 MMP1 GNPTAB RNASEH2B LDB3 IGF2 PPARG UBE2T SDHA PRKAG2 AGPAT2 DSP PPA2 ATAD3A CLN3 PLN GNE ANK1 PMM2 TPM1 GTF2IRD1 MT-ND5 PEX16 TWNK HADHA MT-TH SDHD NDUFAF3 FANCB PEX11B LIAS FAS TMEM126B MYOZ2 HNRNPA2B1 SLC19A3 DPM3 STAR SGCB PEX5 MYLK2 IL12A GSN FANCM RFC2 ERCC4 SDHAF1 MYPN HAND2 POLG ACTA1 COX6B1 MEN1 PEX12 SRP54 COX14 GATAD1 NDUFA12 RYR2 MYH6 POMGNT1 NEBL ANKRD11 ITPA POMT1 MAP2K2 TAF1A ACTC1 CLIP2 PYGM GPX4 XYLT1 POMK COA5 XK ALG1 MIB1 GLB1 IL23R COA3 SCN5A ERCC3 ERAP1 ENPP1 JUP NEU1 MGME1 GTPBP3 DMPK CAP2 ADAR CHKB BRCA2 PEX19 LAMC2 IFIH1 MT-CO1 MRPL3 AIP MYL2 DSC2 HBB BRCA1 TPM3 IDUA MT-ND6 EPG5 TARS1 POMT2 ALMS1 FLNC BMP2 COX15 MT-TL1 HJV HMGCL MAD2L2 RYR1 TERT AHCY GATA4 NUP107 KCNQ1OT1 SLC25A3 NDUFA10 BCS1L RNU4ATAC RMRP SLC4A1 LTBP4 TANGO2 ACAD8 MT-ND3 CAV1 RNASEH2C ABCC9 TK2 MT-TW MTFMT CPT1A NDUFB3 CDKN1C NDUFA2 TKFC ABCC6 SUFU PIGT MT-CO2 COX20 PYGL ACAD9 ADCY5 USP9X NDUFA4 SGCD KCNQ1 DSG2 BAG3 SOS1 TAPT1 FTO NDUFA9 HADHB MAP2K1 ERBB3 COL7A1 TGFB3 MTO1 PALB2 AARS2 FANCE SCO1 TRIP4 PRDM16 NDUFAF6 NDUFAF5 PPP1CB HNRNPA1 MYO18B SPTB PGM1 GATA5 NDUFB8 ANKRD1 DTNA RFWD3 ELAC2 TACO1 MT-TF TAZ PARS2 SGCA NDUFA13 SURF1 COG7 COX7B LAMA3 GTF2H5 MYOT MRPS22 TXNRD2 GYS1 CENPE PEX26 SCARB2 COQ2 GNS NPPA MT-ND1 ATPAF2 KLHL41 DCAF8 WARS2 TTN PSEN2 MT-TE FANCF SAMHD1 NAXD COX10 C1QBP GPR101 PEX3 NAGA MMUT RAB3GAP2 FIG4 TRIM37 GTF2E2 IDH2 FANCG RERE PKP2 NAGLU COA8 RNASEH1 MT-ATP6 FXN FANCI KAT6B ACADL TNFRSF1A IKZF1 PEX13 UBAC2 FANCD2 PNPLA2 SLC2A10 TFR2 POLG2 MYL3 BAZ1B FLAD1 MT-TS2 NDUFS4 ABHD5 HACD1 PPCS ITGA7 PEX2 MT-TN NEK8 TLR4 CLPB RMND1 SBDS CAVIN1 MIPEP COA6 TMEM126A RAD51 ANO5 RIT1 FAH ACADS YARS2 NONO RBCK1 GTF2I EMD ANKS6 MC2R KBTBD13 IL10 IL12B SPEG PEX6 SLC30A10 GJA5 NDUFA6 STAT4 D2HGDH UQCRFS1 NF1 VPS13A NNT RAD51C CDH23 DNAJC19 TNNI3K KLF1 KCNJ8 NDUFA1 ERCC2 GYG1 PDHA1 HPS1 CAV3 HCN4 NEXN FANCC FBXL4 OPA1 SLC40A1 ATP6V1A PEX10 TBL2 PEX14 SPTA1 VCP GABRD VAC14 FGF23 ATP5F1E DNAJC21 NDUFB9 RNASEH2A KIF20A MT-TV MAP3K20 TGFB1 USP8 GUSB NUBPL HP_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_CARDIOMYOPATHY FANCE NDUFS1 SCO1 LIMK1 NDUFAF6 LIPT1 NDUFAF5 PPP1CB MICOS13 INSR TNNT2 NDUFB8 SGSH FANCL LAMP2 SLC22A5 TSFM RFWD3 KRAS ELAC2 MT-ND2 TACO1 ELN NDUFS8 MT-TF MLX NDUFA13 MT-ND3 BRIP1 SURF1 COG7 ECHS1 COX7B TPI1 NDUFS7 NDUFAF1 NDUFV2 BOLA3 PET100 MRPS14 SMC1A SYNE2 MRPL44 MRPS22 NRAS HADH SHOC2 HCCS COQ2 GLA GNS MT-ND1 MT-ND4 ATPAF2 NDUFS3 RAF1 NDUFAF2 LMNA FHL1 TPM1 MT-TE AGK FANCF SAMHD1 HSD17B10 COX10 MT-TQ GPR101 MT-TK SDHB NAGA TTPA HRAS SCO2 NDUFS2 NDUFB11 MYBPC3 SYNE1 MRAP VPS33A DLD BSCL2 FANCG SLX4 NAGLU COA8 TIMMDC1 NDUFAF8 NDUFB10 AIP TAZ TMEM70 MT-CO3 MT-ATP6 SARDH COX8A BRAF TREX1 DES HLA-B FANCI ACADL HGSNAT MLYCD COQ4 HADHA FANCD2 FANCA SDHAF1 ABCC9 MYH6 NDUFS6 FOXRED1 NDUFV1 PTPN11 SLC2A10 GTPBP3 NDUFA11 MAP2K1 SLC25A4 MYL3 BAZ1B MT-TS2 XRCC2 NDUFS4 NDUFAF4 FOS GNPTAB RNASEH2B TXNRD2 PPARG UBE2T SDHA PRKAG2 MT-TN NEK8 AGPAT2 PPA2 TNNI3 ATAD3A ACAD9 CLN3 GTF2IRD1 MT-ND5 CAVIN1 MIPEP MT-TH SDHD NDUFAF3 FANCB LIAS TMEM126B MYOZ2 SLC19A3 COA6 TMEM126A RAD51 STAR MYH7 MYLK2 FANCM RFC2 ERCC4 RIT1 FAH COX6B1 MEN1 YARS2 CRYAB GTF2I EMD COX14 ANKS6 NDUFA12 MC2R MAP2K2 TMEM43 ACTC1 CLIP2 IL12B SLC30A10 PYGM NDUFA6 COA5 ALG1 GLB1 UQCRFS1 COA3 NF1 VPS13A TNNC1 ADAR NNT RAD51C BRCA2 IFIH1 MT-CO1 NDUFA2 MRPL3 KLF1 MYPN MYL2 KCNJ8 MT-TW TTN NDUFA1 PDHA1 BRCA1 MT-ND6 CAV3 COX15 MT-TL1 MAD2L2 FANCC FBXL4 GATA4 OPA1 SLC25A3 ATP6V1A TBL2 NDUFA10 BCS1L TANGO2 VCL CAV1 RNASEH2C ACADVL MTFMT CPT1A NDUFB3 ATP5F1E TKFC SUFU NDUFB9 MT-CO2 COX20 PYGL RNASEH2A KIF20A FXN NDUFA4 MT-TV SOS1 TAPT1 FTO NDUFA9 PMM2 FLNC TGFB1 MTO1 PALB2 BAG3 AARS2 NUBPL HP_CARDIOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOMEGALY ABCC9 GAA MT-CYB CHST3 TET3 ACTA2 LIMK1 DYSF RFC2 TTR B3GAT3 PDSS2 BMP2 NAGA CPT2 NEK9 SMAD4 SLC17A5 NAGLU CPT1A PRKG1 SLC22A5 GTF2I KCNQ1OT1 SMAD3 TBL2 PAM16 MFAP5 PLAGL1 TREX1 ELN NHLRC2 RNASEH2C PRKAR1A PEX7 LOX TGFBR2 CLIP2 PSMB8 VAC14 CDKN1C ZIC3 MYLK CLIC2 PIGS FUCA1 PHYH RNASEH2A LAMP2 TGFB3 BAZ1B HFE HBB ALPK3 KCNQ1 NEU1 DSP ADAR GBA HYMAI GNPTAB RNASEH2B JUP MAT2A IFIH1 IGF2 SLC29A3 FBN1 HEXB TAPT1 COQ2 SAMHD1 TGFBR1 TGFB2 KCNJ8 C1QBP GTF2IRD1 FOXE3 MYH11 PRKAG2 ACADM FIG4 CACNA1C MYBPC3 LBR HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY NXN LZTR1 PTPN11 DACT1 DOCK6 MRAS ARHGAP31 RAF1 EOGT TMEM70 A2ML1 SALL1 RNF135 RRAS2 POLA1 BRAF DAXX RASA2 ATRX POLR3A ARVCF PRKAR1A DLL4 PIGL TBX1 COMT TCIRG1 NRAS JMJD1C RIT1 TNFSF11 FOXF1 RBPJ TGFBR1 SEC24C SNX10 B3GLCT CBL NOTCH1 HIRA RRAS CLCN7 FLT4 KIF7 RREB1 TGFBR2 KRAS ROR2 GP1BB UFD1 SOS2 SOS1 HP_PULMONIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONIC_STENOSIS EFEMP2 PRDM5 LIMK1 RFC2 PPP1CB PSMD12 MRAS MGP NOTCH2 DSG1 RIT1 G6PC3 ADAMTS10 NDUFB8 RAF1 GPC4 GTF2I MAP2K1 ANKS6 SMC3 HRAS ELN MAP2K2 PTPN11 SURF1 KRAS BRAF CHST3 CLIP2 FKTN NRXN1 B3GLCT LTBP2 ENPP1 CHD7 NRAS SHOC2 TBCK DCHS1 NF1 FBLN5 ARHGAP31 SOS2 KANSL1 BPTF NEK9 BMP2 CDC42 WASHC5 FBN1 SCO2 NDUFS2 CYP24A1 ZEB2 SEMA3E MAP3K7 CCDC22 TTC37 ZNF469 SMAD3 CNTNAP2 MLXIPL KDM6A RAD21 TAB2 FAT4 LZTR1 GATA6 TBL2 ALDH18A1 RNF135 SARDH RPL27 BCOR TRAF7 POLR3A IGFBP7 STRA6 ADK ZIC3 WNT4 NDUFAF3 RAB23 BAZ1B TBX2 FLT4 SOS1 GATA4 ACAD8 NEK8 NOTCH1 GDF1 SGO1 GTF2IRD1 GPC3 B4GALT7 HP_PATENT_DUCTUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_DUCTUS_ARTERIOSUS SNX14 ABCC9 FANCE POLR1A FGFR3 SHANK3 DHCR7 TRIP4 LIMK1 PHGDH GJA5 ACSL4 G6PC3 AMMECR1 KCNAB2 KAT6B FBN2 FANCL PEX19 DTNA AFF4 ARID1B XRCC2 TSFM PPP1CB RFWD3 KRAS TFAP2B ELN BRIP1 GATA6 TBX5 AMER1 SAMD9 PTEN B3GLCT GLI3 PRDM16 MYRF TTC37 NSD1 CHD7 BPTF NCAPG2 RREB1 ZNF148 ECE1 ARFGEF2 SEMA3E FANCF YY1AP1 NPHP3 TGFB2 MKKS POLR1D MYH11 EOGT RSPRY1 TMCO1 IGF2 ALG12 CACNA1C ACTB USP18 KAT6A MRPS16 VPS33A CEP120 FANCG ACTA2 FLNA RERE KCNH1 SLX4 CALM3 SMAD4 CTCF TMTC3 ANK1 PRKG1 TRIP11 BCOR SALL1 C2CD3 EED PLAGL1 PRDM6 SOX2 MEGF8 PSMD12 FANCI NKX2-5 MCTP2 NFIX COQ4 AGGF1 TRAF7 PIGN APC2 FANCD2 ARVCF FANCA FOXC2 MYH7 ZIC3 MASP1 CTU2 UBE2A SSR4 DVL3 SKI SPECC1L RAB23 FOXF1 BAZ1B EXT2 HYMAI TBX2 DYNC2LI1 UBE2T TGFBR1 TBX4 TP63 GP1BB THOC6 NEDD4L LMNA PEX1 NONO GTF2IRD1 UFD1 ARX FANCB MAF RAD51 PORCN NOTCH2 COL18A1 DACT1 FANCM RFC2 ERCC4 HPGD RIT1 PCNT ADAMTS10 ADAT3 GPC4 WDPCP ZMPSTE24 GTF2I LMX1B SMAD3 FOXC1 DHCR24 MAP2K1 ANKS6 MFAP5 SMC3 EP300 PIGT KYNU KCNE5 RBP4 ESCO2 IGBP1 LOX CLIP2 COMT MYCN SKIV2L SF3B4 JMJD1C BMPR1A RPL5 GATA4 TGFB3 CDC42 TCOF1 DNMT3A PCGF2 HIRA RAD51C PUF60 BRCA2 TGFBR2 STXBP1 FBN1 SLC25A24 TBX1 BRAF RAC1 CREBBP KCNJ8 TMEM94 POLR1C TRRAP BRCA1 CHRM3 CD96 WDR35 DPM1 ZEB2 PTPN11 MAP3K7 PACS1 TKT MKS1 MAD2L2 SIX6 FANCC FKBP14 ARL6IP6 LARS2 TBL2 SIK3 GJA8 TALDO1 ARF1 NR2F2 WT1 STRA6 GABRD MYLK ERMARD RPS26 ASCC1 USP9X UMPS SEC24C NOTCH3 CCDC22 MAT2A GJA1 FTO RPL11 ALG8 SNRPB SETD2 SON FOXE3 MAP1B PALB2 GPC3 CRELD1 HP_DILATED_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_CARDIOMYOPATHY ADCY5 PRDM16 CPT2 PGM1 PSEN1 FKRP GATA5 LMNA KCNAB2 MYH7 NDUFB8 LAMA4 FKTN ANKRD1 LAMP2 TSFM TNNI3 RAF1 MYBPC3 MT-TF EYA4 ALMS1 TAZ SURF1 TCAP COX7B RRM2B BOLA3 LAMA3 SYNE2 HAMP TXNRD2 LIMS2 HADH DOLK HCCS DMD MT-ND1 MT-ND4 TTN PSEN2 GATAD1 SELENON VCL MT-TQ DES SCO2 NDUFS2 FHL2 TNNT2 SYNE1 XRCC4 ACTN2 TNNC1 BBS2 RERE CRYAB TOP3A SDHA MT-CO3 ACADVL MT-ATP6 NUP107 KAT6B POLG TPM2 SDHAF1 ATP5F1D TMPO SKI SLC2A10 LAMB3 DSG2 TWNK POLG2 MT-TS2 UBR1 HACD1 RBM20 MMP1 PPCS ITGA7 MT-TK ACAD9 PLN TPM1 MT-ND5 MT-TH DSP DPM3 SGCB LDB3 MYPN HAND2 BAG3 ACTA1 RBCK1 FHL1 EPG5 MYH6 HADHB TMEM43 NEBL ANKRD11 TAF1A HJV SPEG XK SCN5A GLB1 MGME1 DMPK CAP2 CHKB ACTC1 TKFC LAMC2 DNAJC19 TNNI3K MT-CO1 MT-TW TPM3 MT-ND6 MYL2 SDHD SGCD NEXN CSRP3 HMGCL RYR1 TERT MT-TL1 ACAD8 MT-ND3 ABCC9 GABRD MT-ND2 HADHA MT-CO2 NDUFAF3 MT-TV POMT2 NDUFB11 JUP MAP3K20 ERBB3 COL7A1 SLC25A4 HP_SUDDEN_CARDIAC_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_CARDIAC_DEATH ALG10B LDB3 KCNE2 KCNJ2 CRLF1 LIMK1 RFC2 LDLR WIPF1 CAV3 DTNA KCNQ1 PTEN CSRP3 GTF2I LMNA SCN5A EMD KCNJ5 ELN TMEM43 KCNH2 CLIP2 CLCF1 RYR2 LDLRAP1 SYNE2 CACNA1C WAS ENPP1 APOB GNAI2 AKT1 CALM1 DNAJC19 KCNE1 NOS1AP JUP LRP6 TRDN MYL2 ABCG5 TNNI3 HLA-B DSC2 EYA4 SYNE1 SCN10A SCN4B CALM2 CACNA2D1 PKP2 TBL2 FHL1 GPD1L PRKAG2 DES TECRL ABCG8 ACADL DPP6 IKZF1 ACADVL CALM3 AKAP9 CPT1A MYH7 SNTA1 ABCC6 PTPN22 ACAD9 MYL3 BAZ1B DSP PCSK9 ABCA12 RBM20 CASQ2 ANK2 DSG2 GTF2IRD1 TGFB3 HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY ABCC9 FANCE ROBO4 CHST3 LIMK1 FANCM RFC2 ERCC4 GJA5 ACSL4 AMMECR1 GATA5 FBN2 FANCL GTF2I RFWD3 PPP2R5D CCNQ SMAD3 MFAP5 SMC3 TGFB2 ELN RPS6KA3 KCNE5 NXN SMAD6 MLX GNPTAB BRIP1 LOX MMP2 FLNA GATA6 CLIP2 IL12B COMT B3GALT6 CBL TTC37 SKIV2L BRAF JMJD1C MMP14 GATA4 TGFB3 GLA TAF2 ARHGAP31 KANSL1 HIRA RAD51C PUF60 BRCA2 RREB1 TGFBR2 FBN1 SEMA3E SRY FANCF NAA10 TGFBR1 RAC1 CHD7 LMNA IFIH1 TBX1 BRCA1 SNIP1 NOTCH1 GBA ACTB MYH7 HGD MAP3K7 PACS1 FANCG ACTA2 BCOR B3GAT3 BBS2 EDNRA TAB2 MAD2L2 SLX4 SMAD4 FANCC SLC25A24 PRKG1 MLXIPL YY1AP1 TMEM70 CHRNG TBL2 MAP2K2 GJA8 HLA-B NKX2-5 FANCI SKI MCTP2 FANCD2 ARVCF NR2F2 MMP21 FANCA MYLK RAI1 TNXB FOXF1 BAZ1B XRCC2 SEC24C NOTCH3 MAT2A UBE2T SGO1 IFT122 GP1BB GTF2IRD1 FOXE3 UFD1 PALB2 MYH11 RPL26 FANCB MYH3 RAD51 CRELD1 HP_COR_PULMONALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COR_PULMONALE TGFB1 FCGR2A FLNA BTK CFTR HP_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYCARDIA VPS33A SLMAP KCNJ2 KCNJ5 VHL ELP1 PGM1 KCNE3 CASQ2 CPOX HNF1A CSRP3 HFE SCN5A RYR2 SCN1B HCN4 SCN10A SDHB SCN3B KCNE5 CACNB2 PYGM TMEM127 CTNNA3 CACNA1S DNMT3A SDHD SLC25A20 TMEM43 DMPK UCP2 HNF4A GNAI2 GDNF KCNJ18 TTN LMNA TRDN KCNQ1 ECE1 BTNL2 CALM1 TECRL TNNI3K SRY BMP2 JUP MYL2 GYG1 RYR1 TRPM4 SLC12A3 PPOX MT-CYB FBP1 CALM2 RANGRF CACNA1C KCNJ11 ABCC9 CSF2RB HMBS ACADVL PRKAG2 KYNU TANGO2 ABCC8 CALM3 AKAP9 NAA10 RET SCN9A KCND3 SCN2B SCNN1A ACTN2 DSP DST FLAD1 HLA-DRB1 CAVIN1 SEMA3A CSF2RA NDUFB11 GPD1L JPH2 MAX PKP2 KIF1B DSG2 CNBP SLC19A2 TSHR CACNA2D1 TPM1 SDHC KCNJ8 FMO3 MYOZ2 HP_AORTIC_VALVE_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_VALVE_STENOSIS ROBO4 EHMT1 NOTCH2 CCDC22 GNPTG LIMK1 RFC2 ADAMTS10 HAAO KRAS ELN TAB2 ESCO2 LDLR GATA5 FGFR1 FLI1 SLC2A10 MLXIPL GTF2I GLB1 TBL2 ANKS6 NKX2-5 FBN1 ABCG8 BCOR SMAD6 NR2F2 FBLN5 WT1 GATA6 CHST3 CLIP2 NOTCH1 LDLRAP1 CBL CLIC2 LTBP2 EBP DDX58 FOXF1 GATA4 BAZ1B PCSK9 ARHGAP31 APOB SCN1B SMAD4 NPHP3 NEK8 LMNA ADAMTSL2 VWF ABCG5 WASHC5 IDUA GTF2IRD1 IFIH1 SNIP1 B4GALT7 CYP24A1 ACTB GJA1 DPH1 AMER1 CRELD1 HP_ABNORMAL_HEART_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY ABCC9 FANCE ROBO4 PRDM5 LIMK1 GJA5 ACSL4 AMMECR1 GATA5 FGFR1 KCNAB2 ARHGAP31 FBN2 FANCL FBN1 RFWD3 A2ML1 ABCC6 RRAS2 POLA1 TGFB2 ELN RPS6KA3 ATRX NXN SMAD6 MLX SACS PRKAR1A BRIP1 KRAS PIGL GATA6 COX7B B3GALT6 DYNC2LI1 MFAP5 CBL PRDM16 MYRF TTC37 CLIC2 MMP14 HCCS MYPN GLA KANSL1 AEBP1 RREB1 SPEG EVC ARFGEF2 SEMA3E FANCF ROR2 LMNA TTN CHD7 COL2A1 FLNA XYLT2 FIBP COL1A1 TAF2 SNIP1 HRAS GBA ACTB HGD CHST14 FANCG GALNS ACTA2 BCOR LOX ZNF469 BBS2 RERE YY1 EDNRA DOCK6 MRAS FBLN5 SLX4 SMAD4 TMTC3 MAP3K7 ANK1 PRKG1 MLXIPL TAB2 TMEM70 CHRNG COL3A1 ALDH18A1 SALL1 LETM1 BRAF HLA-B NKX2-5 SMPD1 FANCI SKI DAXX MCTP2 AGGF1 MYH7 PKD1 FANCD2 ARVCF DLL4 MMP21 FANCA TCIRG1 NRAS ZIC3 DSE ARSB BRF1 RAI1 TNFSF11 MAP2K1 FOXF1 RBPJ BAZ1B EVC2 XRCC2 SNX10 RYR1 B3GLCT CLCN7 SLC29A3 UBE2T GP1BB NEDD4L NONO GTF2IRD1 UFD1 SOS2 FANCB MYH11 SH3PXD2B MYH3 RAD51 DACT1 CHST3 FANCM RFC2 ERCC4 BICC1 RAF1 IDUA GANAB GTF2I PPP2R5D CCNQ SMAD3 LTBP3 SMC3 MAP2K2 RASA2 DNASE1L3 KCNE5 EXTL3 PTPN11 GNPTAB MMP2 CLIP2 IL12B COMT XYLT1 FMR1 SKIV2L GLB1 JMJD1C RPL5 TPM2 GATA4 TGFB3 ENPP1 TMEM260 PCGF2 PKD2 NOTCH1 HIRA RAD51C PUF60 BRCA2 VPS13B GLI1 TGFBR2 TPM3 NELFA COL5A1 SRY NAA10 TGFBR1 RAC1 KCNJ8 IDS VWF COL1A2 IFIH1 TBX1 PLD1 BIN1 BRCA1 SOS1 WASHC5 HCN4 LZTR1 CCDC22 PACS1 NSD2 PLOD1 B3GAT3 MAD2L2 MED12 FANCC SLC25A24 YY1AP1 EOGT TBL2 RNF135 ATP6V1E1 SELENON GJA8 ARF1 POLR3A NR2F2 GABRD MYLK ERMARD POLG COL5A2 RIT1 TNXB CBS SEC24C NOTCH3 RRAS FLT4 KIF7 DCHS1 MAT2A GJA1 NDUFB11 SGO1 IFT122 FOXE3 MAP1B PALB2 RPL26 GUSB CRELD1 HP_PATENT_FORAMEN_OVALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_FORAMEN_OVALE VPS33A MAP3K7 NKX2-1 PACS1 CHST3 HSPA9 TRIP4 TKT PHGDH B3GAT3 YY1 COL11A1 NONO AFF4 CDK8 TSFM PPP1CB STAT1 PPP2R5D GATA6 AMMECR1 ACADVL TGFB3 TALDO1 GNPTAB TBX20 FLCN RERE MED13L DSE FANCI UBE2A PIGN ASCC1 DVL3 RAI1 IGF1R NCAPG2 STAMBP CACNA1D NOTCH1 RAC1 TMEM94 TRRAP KDM1A LTBP4 PLD1 RSPRY1 ALG12 CACNA1C WDR35 HP_MYOCARDIAL_INFARCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCARDIAL_INFARCTION MYH9 JAK2 IL12A CYP27A1 HLA-B BSCL2 LIMK1 RFC2 LDLR LPL RAF1 MEFV SH2B3 ABCA1 WRN GTF2I SCNN1A TBL2 ABCG8 ELN BRAF C4A IL12A-AS1 CEP19 CAV1 IKZF1 UBAC2 MLX THOC2 CTNNB1 PTPN11 SCNN1G MEF2A IL10 CLIP2 IL12B ABCC6 LDLRAP1 GLA STAT4 CFTR SLC2A10 IL23R CBS ERAP1 BAZ1B LMNA PCSK9 CCR1 FOS APOB KLRC4 AGPAT2 TET2 LRP6 BCHE ABCG5 TLR4 DYRK1B SCNN1B GTF2IRD1 TP53 PPARG CAVIN1 MPL ENPP1 PIGA FAS CALR HGD HP_AORTIC_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_REGURGITATION IDUA CEP57 HCN4 EHMT1 SLC35A1 SH2B1 TTC37 IL12A HLA-B GNPTG ACTA2 FLNA TAB2 SMAD3 SMAD4 SLC2A10 TMTC3 MAN2B1 PRKG1 MFAP5 C12orf57 ATP6V1E1 TGFB3 MEFV NKX2-5 FBN1 C4A IL12A-AS1 BUB3 ARF1 UBAC2 SMAD6 GNPTAB LOX IL10 TGFBR2 CHST3 NOTCH1 ELN CRKL BUB1 MAPK1 MYLK ERMARD STAT4 CCNQ COL1A2 D2HGDH SKIV2L IL23R ALDH18A1 ERAP1 CCR1 PCGF2 PDSS1 BCR KLRC4 MAT2A ARFGEF2 YY1AP1 TGFBR1 TGFB2 TRIP13 TLR4 NEDD4L FOXE3 MAP1B MYH11 GATA5 BUB1B FAS PUF60 HP_TRUNCUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCUS_ARTERIOSUS JMJD1C NKX2-6 TBX1 GJA5 GATA6 SEC24C NKX2-5 TMEM260 DLL4 HIRA BCR PUF60 RREB1 GJA8 PSMD12 NEK8 GP1BB ARVCF STRA6 CRKL UFD1 COMT MAPK1 HP_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYCARDIA KCNE2 CACNA1D HCN4 KCNJ2 BSCL2 SCN10A GLUL CASQ2 CACNA2D1 TMEM43 CALM3 CAV3 MYL4 LIPT1 KCNJ5 PAX8 SCN5A TWNK BVES CAV1 DES COQ4 KCNH2 SCN4B BRAT1 TRPM4 AKAP9 EFEMP2 SNTA1 CALM2 SCN9A CACNA1C UQCRFS1 DST CAVIN1 KCNQ1 NPPA FOS SLC25A20 GNB5 TSPYL1 ANK2 TNNI3K PRKAG2 KCNE1 NOS1AP AGPAT2 SGO1 TRDN PPA2 COQ9 CALM1 TLL1 PPARG USP18 HTRA2 HP_VENTRICULAR_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_FIBRILLATION ALG10B HCN4 SLMAP KCNJ2 KCNE1 TRPM4 RANGRF CACNA1C CACNA2D1 KCNE3 KCNH2 KCNQ1 SCN5A SNTA1 SCN1B ABCC9 CACNA1S ACADVL GPD1L TANGO2 DPP6 KCNE2 SCN10A SCN3B AKAP9 KCNE5 CLCNKB CACNB2 CALM2 KCND3 SCN2B SCNN1A KCNJ18 MYL3 DSP SEMA3A NDUFB11 TNNC1 PKP2 MYL2 GYG1 SLC12A3 KCNJ8 CALM1 GABRA3 MYBPC3 HP_TORSADE_DE_POINTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSADE_DE_POINTES ALG10B KCNE2 CACNA1C KCNH2 KCNE1 SCN10A CAV3 KCNQ1 SCN5A SNTA1 KCNJ5 TANGO2 CALM2 ANK2 NOS1AP TRDN CALM1 SCN4B AKAP9 NAA10 HP_RIGHT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_HYPERTROPHY STAMBP NPHP3 SELENON GTPBP3 VIPAS39 NOTCH1 VPS33B DYSF COLQ LAMB2 TTN MYH7 SGCG NONO SFTPB BMPR2 PIGN HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES MED13L NKX2-6 RAB23 TBX1 PHGDH GJA5 GATA6 ZMPSTE24 NKX2-5 GPC4 GATA4 GJA8 MEGF8 BMP2 GDF1 FANCB CFC1 LMNA WT1 NODAL PIGL MMP21 GPC3 CFAP53 FKTN ZIC3 HP_ASYMMETRIC_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY CAV3 MYH7 NAGLU SGSH PRKAG2 MYLK2 HGSNAT MYH6 MYL2 MYOZ2 GNS HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY SNX14 KMT2D ROBO4 FGFR3 NKX2-1 CTBP1 NDUFS1 LIMK1 LIPT1 MPLKIP MRAS HAAO DSG1 NEK9 KCNAB2 WDPCP FBN2 FANCL AFF4 ARID1B TSFM AMMECR1 MAP3K7 GPC3 ELN NDUFS8 UPF3B ECHS1 BRIP1 DDX11 KRAS GATA6 NDUFS7 MED13L POLR1A MED25 DYNC2LI1 MYRF TTC37 SALL4 NSD1 FGFRL1 FUT8 MMP14 BMP2 CHD7 HSPG2 COX7B TBX1 HCCS PEX1 GATA4 NFIX TTC7A NSDHL KANSL1 PET100 NCAPG2 RAF1 NDUFAF2 DGCR8 EVC CRB2 PEX6 SHOC2 ROR2 WDR26 CCDC174 GJA1 COL11A2 FADD FIBP SPECC1L B3GALT6 CACNA1C HRAS SLC25A22 RNF113A MYBPC3 CEP57 SEMA3E MGP PIGQ ESS2 HSPA9 PIEZO2 BBS2 MYMK CKAP2L LRP2 SLX4 CALM3 PEX10 FLI1 NEK1 CTCF GPC4 INSR RAD21 BCOR STRADA C2CD3 ACADVL BRAF PLAGL1 PAX3 PQBP1 SNRPB SOX2 NKX2-5 MEGF8 SLC19A2 MCTP2 BUB3 AGGF1 PIGN ARVCF FLCN AKT3 FANCA WDR60 FOXC2 RERE COG1 DGCR6 PEX12 MAPK1 MASP1 GLA FANCI CTU2 FGFR1 LYST BRF1 NDUFV1 SKI RAI1 RAB23 FOXF1 VPS33B FOXRED1 EVC2 XRCC2 UBR1 WNT4 B3GLCT EXT2 KAT6A HYMAI TBX2 ALKBH8 STAMBP UBE2T SDHA PIK3R2 MEOX1 LTBP4 SMC1A LMNA GTF2IRD1 LARP7 UFD1 ARX LETM1 XYLT2 FANCB MED12 SLC19A3 CCND2 RPL10 PEX14 PORCN ACTC1 SH2B1 RBM10 FANCM RFC2 ERCC4 DMXL2 FLNB NOTCH3 ADAMTS10 ZMPSTE24 PPP2R5D DNMT3A FGFR2 MEIS2 FOXC1 DPF2 EP300 NDUFA12 NSD2 ANKRD11 PTPN11 MMP2 CLIP2 COMT GPX4 DSE FKTN PIGP SKIV2L JMJD1C SYNE1 SMAD4 RPL5 ERCC3 LRP5 EFTUD2 PCGF2 ATP6V0A2 UMPS FLNA SOS2 AUTS2 HIRA BCR BRCA2 TGFBR2 NELFA SYT1 CPLX1 MYL2 RAC1 CREBBP OTUD6B TMEM94 NR2F2 TRRAP GNAO1 COL1A2 STK4 RPL35A BRCA1 CHRM3 BUB1B ATRX WDR35 ZEB2 EHMT1 HOXD13 MT-CYB TARS1 MKS1 B3GAT3 COX15 TAB2 MAD2L2 SIX6 SLC25A24 KDM6A NUP107 LARS2 VPS13B PACS1 NDUFA10 RNU4ATAC RMRP ATP6V1E1 TALDO1 FBN1 KCNA1 PEX13 SETD5 DGCR2 PIEZO1 CDKL5 STRA6 NODAL MTFMT NAA10 BUB1 KMT2A NDUFA2 RPS26 ASCC1 PKD1L1 COL5A2 CEP290 ABL1 TFAP2B USP9X INTU NDUFA4 CDC45 SEC24C BSCL2 CCDC22 NEUROD2 TNFRSF11A IGF1R SOS1 TAPT1 FTO KDM5B NDUFA9 GDF1 ALG8 ERBB3 MYH6 PEX2 SON HDAC8 PALB2 THOC6 CRELD1 FANCE SOX4 SHANK3 DHCR7 GPC6 TRIP4 NDUFAF6 PHGDH NOTCH2 G6PC3 GATA5 KAT6B STXBP1 IFT172 STAG2 CITED2 PEX19 CHST14 DTNA PPP1CB PEX16 RBM8A RFWD3 GDF6 SETBP1 TGFB3 NUP188 POLA1 SRCAP SMG9 NDUFA13 PIGL TBX5 AMER1 NIPBL PTEN ZIC3 GTF2H5 GLI3 SALL1 CHD4 PRDM16 PUF60 TBCK CANT1 ARHGAP31 PEX5 NFE2L2 TXNL4A RREB1 GDF3 ECE1 HOXA13 UBE3B FANCF EXOC6B LONP1 YY1AP1 PEX26 NPHP3 LBR PAH TBX3 TRIP13 WASHC5 SCN2A MKKS EOGT RSPRY1 TMCO1 ALG12 FIG4 SMC3 GTF2E2 ALG9 CASK RSPO2 NXN TP63 NKAP FANCG YY1 TCTN3 ASXL1 NRXN1 ANK1 MLXIPL LZTR1 NDUFAF5 RECQL4 RPL27 PSMD12 POR RPL15 APC2 FANCD2 TBX20 PIGA NF1 MMP21 MYH7 UBE2A DVL3 MAP2K1 ACVR2B BAZ1B ATIC CCBE1 TRIM8 SLC29A3 NDUFB11 PIGO ZDHHC9 NOTCH1 TBX4 RARB GP1BB TLL1 CFC1 NONO RAD51 VPS33A JAG1 TACO1 DACT1 CHST3 TET3 ATN1 PEX11B KIAA0586 RIT1 PCNT GATA1 ADAT3 CDK8 GTF2I STAT1 PIGT MAP2K2 NDUFV2 HYLS1 KIF15 GNPTAB ESCO2 IGBP1 IRX5 CRKL IFT81 SURF1 PTF1A LTBP2 CDK13 SF3B4 UQCRFS1 BMPR1A DPH1 RPS17 EPHB4 TMEM260 TBX22 RAD51C PACS2 GLI1 COL5A1 CACNA1D VIPAS39 CDC42 KDM1A ARCN1 ERCC2 GYG1 PLD1 PDHA1 CD96 ABCD4 XYLT1 NKX2-6 TRAIP PIK3CA PNKP TKT KIF11 HNRNPU NDUFS3 NDUFS2 COL11A1 FANCC NDUFS4 DLL4 MGAT2 COL1A1 PPP2CA SMARCE1 CNTNAP2 DNAJC19 TRIO ASXL2 SIK1 ATP6V1A TBL2 TGDS SIK3 WT1 MYPN GABRD ADK VAC14 SMN1 CDK10 TCIRG1 CCNQ TGFBR1 CWC27 PEX3 KIF7 RPL11 MPL SETD2 RPS19 SCN1B SPATA5 ARID2 HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT NKX2-6 TBX1 GDF1 HYLS1 GATA6 INTU CDC45 NKX2-5 GATA1 WDPCP TRIO PUF60 HP_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ATHEROSCLEROSIS ZNF687 ACTA2 SERPIND1 LOX KCNJ5 LDLR SMAD4 ESR1 PRKG1 ABCA1 SMAD3 ABCC6 MFAP5 SMPD1 CYP7A1 ABCG8 LMNA CEP19 TGFBR2 ELN APOE XYLT1 LDLRAP1 MYLK TGFB3 PCSK9 APOB MAT2A FBN1 PPARG ZMPSTE24 TGFBR1 TGFB2 ABCG5 XYLT2 FOXE3 MYH11 LIPC HP_ABNORMAL_AORTIC_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_MORPHOLOGY KMT2D FANCE ROBO4 LIMK1 GJA5 TSC2 NEK9 FGFR1 KCNAB2 STAG2 WDPCP FBN2 FANCL FBN1 AFF4 PPP1CB RFWD3 KRAS TGFBR3 TGFB3 TGFB2 ELN ACTA2 SRCAP SMAD6 MLX SMG9 BRIP1 GATA6 APOE RNU4ATAC MYLK MFAP5 GLI3 CHD4 PRDM16 COX7B MMP14 TBX1 FBLN5 MYPN APOB BGN KANSL1 PRKG1 AEBP1 RREB1 ZNF148 DGCR8 ARFGEF2 SEMA3E UBE3B FANCF SAMHD1 COL3A1 ROR2 LMNA WDR26 PAH CHD7 TRIP13 CYP17A1 MYH11 COL1A1 HGD CEP57 NXN TBX5 FOXE3 ESS2 NKAP FANCG FLNA LOX RERE KCNH1 SLX4 FLI1 SMAD4 CTCF SLC2A10 TMTC3 LZTR1 CRELD1 CHRNG ALDH18A1 TREX1 NRAS HLA-B NKX2-5 FANCI CYP7A1 ABCG8 MCTP2 BUB3 TRAF7 PIGN FANCD2 NOD2 ARVCF TBX20 MMP21 FANCA DGCR6 MAPK1 BRF1 SKI PTPN22 RAI1 ACVR2B BAZ1B NSMCE2 PCSK9 XRCC2 PTH1R RNASEH2B GBA NDUFB11 DYNC2LI1 UBE2T TGFBR1 GP1BB NEDD4L GTF2IRD1 THSD1 UFD1 FANCB GATA5 MED12 MYH3 RAD51 EFEMP2 JAG1 CHST3 FANCM RFC2 ERCC4 BICC1 FLNB LDLR CDK8 GANAB GTF2I SMAD3 MAP2K1 PTEN C12orf57 EP300 DIS3L2 PIK3R2 DHCR7 MMP2 CLIP2 IL12B CRKL COMT LDLRAP1 JMJD1C TPM2 GATA4 HRAS FMR1 DNMT3A TMEM260 RIN2 PKD2 SOS2 HIRA ADAR BCR RAD51C PUF60 BRCA2 TGFBR2 TPM3 IFIH1 COL5A1 SRY BRAF CREBBP NR2F2 ABCG5 TRRAP PKD1 COL1A2 BRCA1 BUB1B ABCD4 GJA1 MYH7 DNAH1 EHMT1 PTPN11 NKX2-6 PLOD1 MKS1 B3GAT3 POR ENG TAB2 MAD2L2 ZMPSTE24 FANCC SLC25A24 FKBP14 PPP2R1A KDM6A TSC1 TBL2 TGDS GJA8 TALDO1 HCCS RBM8A RNASEH2C ARF1 DGCR2 WT1 STRA6 GABRD ADK NOTCH1 BUB1 ERMARD COL5A2 LEMD3 ABL1 RNASEH2A HDAC4 ANGPTL6 SPECC1L SEC24C FLT4 MAT2A CYP11B1 GDF1 FGFR2 RPS19 MAP1B PALB2 MEIS2 AMER1 HP_COARCTATION_OF_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARCTATION_OF_AORTA CEP57 KMT2D EHMT1 PTPN11 NKX2-6 JAG1 TBX1 GJA5 MKS1 KRAS NKX2-5 FGFR1 FLI1 MED12 CTCF GLI3 STAG2 WDPCP KDM6A CDK8 PPP1CB LZTR1 TGDS MAP2K1 NRAS GJA8 TALDO1 SMAD6 RBM8A MCTP2 BUB3 TRAF7 SRCAP DHCR7 NR2F2 TBX20 WT1 STRA6 MMP2 GATA6 ADK NOTCH1 BUB1 RNU4ATAC CHD4 MMP14 ABL1 GATA4 HRAS SPECC1L PTH1R SOS2 PUF60 SMAD4 ZNF148 DYNC2LI1 SRY UBE3B PAH BRAF GDF1 TRIP13 TRRAP RPS19 MEIS2 GATA5 BUB1B ABCD4 GJA1 MYH7 AMER1 CRELD1 HP_ANGINA_PECTORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGINA_PECTORIS CYP27A1 GATA4 LMNA PCSK9 GLA ENPP1 LDLR APOB LIPC TET2 ABCC6 IDUA HLA-DPB1 PTEN ZMPSTE24 ABCG8 HLA-DPA1 PTPN22 CTLA4 MPL ABCG5 NR2F2 PMM2 XYLT2 GATA6 APOE XYLT1 PIGA LDLRAP1 PRTN3 LCAT JAK2 CRELD1 HP_SUBVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBVALVULAR_AORTIC_STENOSIS PTPN11 CEP57 CAV3 MYH7 NKX2-5 MYLK2 BUB3 TRIP13 TAB2 IFIH1 WDPCP BUB1 BUB1B MYH6 FGFR1 HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT NF1 PTF1A NKX2-5 TBX5 TRIP4 RPL11 GATA6 MYH6 GDF1 HP_MYOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCARDIAL_FIBROSIS FLNC PPA2 LAMP2 KIF20A JPH2 TRIM37 TNNI3 MYPN FKTN TNNT2 HP_SINUS_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_BRADYCARDIA KCNJ5 KCNE2 CACNA1C HCN4 SCN5A KCNH2 TNNI3K PRKAG2 KCNE1 CALM2 ANK2 NOS1AP BVES TRDN SCN10A CALM1 SCN4B AKAP9 CAV3 SNTA1 KCNQ1 HP_ATRIAL_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_ARRHYTHMIA HCN4 KCNJ2 TBX5 BSCL2 MT-CYB TWNK SCN4B KCNJ5 TAB2 CACNA2D1 SMAD3 TMEM43 GATA5 CASQ2 DTNA MYL4 CSRP3 TRDN GATAD1 PRKAG2 ACADL CACNB2 CAV1 KCNH2 NR2F2 SCN5A MYPN RYR2 GATA6 RRM2B MYH7 EMD NUP155 MFAP5 XK CACNA1C POLG FLNC CLIC2 GJA5 NKX2-5 DMPK GATA4 ACTN2 KIF20A POLG2 NPPA CAVIN1 KCNQ1 LMNA KCNA5 FOS SCN1B TNNC1 TNNT2 ANK2 TTN KCNE2 TNNI3K APRT AGPAT2 SGO1 NEXN TNNI3 ABCC9 PLN TLL1 SLC25A4 PPARG SCN2B MYOZ2 SCN3B CRELD1 HP_CARDIAC_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_ARREST ALG10B LDB3 KCNE2 SLMAP KCNJ2 CBL CRLF1 LIMK1 RFC2 KCNJ5 LDLR KCNE3 WIPF1 CAV3 DTNA KCNQ1 PTEN CSRP3 GBA GTF2I LMNA SCN5A EMD TET2 ELN SCN1B HCN4 TMEM43 SCN10A SCN3B KCNH2 KCNE5 CACNB2 CLIP2 CLCF1 RYR2 LDLRAP1 SYNE2 CACNA1C WAS ENPP1 APOB GNAI2 AKT1 TRDN CALM1 DNAJC19 TNNI3K KCNE1 NOS1AP JUP LRP6 MYL2 ABCG5 TNNI3 HLA-B DSC2 RUNX1 EYA4 MYBPC3 SYNE1 SRSF2 TRPM4 SCN4B CALM2 RANGRF CACNA2D1 HMGCL PKP2 ABCC9 TBL2 FHL1 GPD1L PRKAG2 DES TECRL TANGO2 ABCG8 ACADL DPP6 IKZF1 ACADVL CALM3 AKAP9 TGFBR2 CPT1A MYH7 SNTA1 ABCC6 KCND3 SCN2B SCNN1A SLC2A10 PTPN22 ACTN2 ACAD9 MYL3 BAZ1B DSP PCSK9 SEMA3A ABCA12 NDUFB11 RBM20 ASXL1 TSPYL1 CASQ2 ANK2 TGFBR1 DSG2 SLC19A2 GTF2IRD1 TGFB3 KCNJ8 HP_ABNORMAL_PERICARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY ABCC9 IL12A HLA-B FCGR2B PLVAP CTLA4 TSC1 MEFV PTPN14 GATA6 HLA-DRB1 ACADVL HBA1 TNFRSF1A C4A IL12A-AS1 DNASE1 DNASE1L3 UBAC2 NOD2 KIAA1109 CLCNKB IL10 EXT2 CCBE1 STAT4 PRG4 MIF UQCRFS1 PTPN22 IL23R ERAP1 SCARB2 CALCRL LMNA CCR1 EPHB4 CDH23 ADAMTS3 EXT1 IL6 AEBP1 SPP1 KLRC4 SMAD4 HLA-DPB1 LACC1 HLA-DPA1 TREX1 HBA2 GBA MAF TSC2 TLR4 PMM2 FCGR2A FAT4 SLC12A3 IRAK1 FAS TRIM37 PRTN3 MYBPC3 ALG9 HP_PERICARDIAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERICARDIAL_EFFUSION ABCC9 UQCRFS1 SCARB2 PLVAP CALCRL LMNA EPHB4 CCBE1 CDH23 TSC1 PTPN14 ADAMTS3 AEBP1 SPP1 SMAD4 ACADVL GBA TSC2 DNASE1L3 KIAA1109 PMM2 CLCNKB FAT4 SLC12A3 STAT4 IRAK1 MAF MYBPC3 ALG9 HP_SUDDEN_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_DEATH CAV3 MYH7 SCN5A TTN MYLK2 CASQ2 ELN MLXIPL TAB2 JUP TRDN TECRL RYR2 AKAP10 SMAD3 SOST HADHA EYA4 MYH6 CACNA1C HRAS CALM1 TNNT2 HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY COL5A2 NXN JMJD1C CCDC22 GATA4 HCCS KRAS YY1 SEC24C FGFR1 TMEM260 PCGF2 FBN1 COL1A1 HIRA GATA6 RREB1 COL5A1 NDUFB11 FLNA ROR2 RPS6KA3 AGGF1 GP1BB ARVCF NR2F2 NONO TBX1 COX7B PLD1 MMP21 UFD1 COMT MYH7 CRELD1 WASHC5 MYRF HP_TRICUSPID_VALVE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_VALVE_PROLAPSE COL5A2 COL5A1 NDUFB11 FLNA FBN1 HCCS KRAS FGFR1 COX7B PCGF2 PLD1 COL1A1 HP_ENDOCARDIAL_FIBROELASTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROELASTOSIS IDUA TAZ ACTN2 SLC22A5 GJA5 CSRP3 HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY TGFB1 FLNA GTPBP3 VPS33B DYSF SGCG FIBP SFTPB NONO GATA6 STAMBP TRAPPC11 NPHP3 SELENON BTK VIPAS39 NOTCH1 CFTR COLQ LAMB2 TTN MYH7 FCGR2A MMP21 BMPR2 PIGN HP_RIGHT_VENTRICULAR_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_FAILURE SELENON DAXX BMPR2 SDHD ATRX TTN MYH7 HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK PTPN11 MT-ATP8 DES SCN5A RRM2B MT-TL1 HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY ABCC9 LDB3 MYH7 MYLK2 CEP57 CHST3 TWNK PRDM16 SDHAF1 RIT1 MEN1 WDPCP MT-CO2 DTNA MT-CO1 MT-TF SDHA MT-TW ARL6 EPG5 SMAD6 CCDC28B GNPTAB LMNA HADHA RRM2B ABCA1 MT-TC GYS1 NKX2-5 GLA MT-TS2 MT-TK MT-TL1 SPEG CACNA1D AIP MYL2 TPK1 TRIP13 C1QBP FKRP TNNI3 MT-CO3 COL1A2 SDHB IFIH1 BIN1 BUB1B MYH6 TNNT2 WDR35 ATP6AP2 CAV3 HCN4 ZNF687 B3GAT3 MT-ND5 TAB2 MT-CYB BBS1 SMAD3 MT-TV SLC25A24 COQ7 GATA6 POMT1 BUB3 TTN SCN5A MYPN NOTCH1 TCAP BUB1 FGFR1 POLG PTPN11 GTPBP3 ACTN2 POLG2 MYL3 RYR1 MT-TQ JPH2 KCNJ5 POMT2 ZMPSTE24 GLRX5 ACTC1 HADHB NEXN PLN COQ9 MT-ND6 TRMT10C HSD11B2 SLC25A4 NONO SDHD GATA5 MYOZ2 MT-ND1 HP_LEFT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_HYPERTROPHY ABCC9 AIP LDB3 ATP6AP2 HCN4 ZNF687 CHST3 TWNK B3GAT3 SDHAF1 MT-ND5 RIT1 MT-CYB BBS1 SMAD3 MEN1 MT-TV SLC25A24 MT-CO2 DTNA COQ7 MT-CO1 MT-TF SDHA MT-TW POMT1 ARL6 EPG5 ABCA1 CCDC28B GNPTAB TTN LMNA SCN5A HADHA MYPN TCAP RRM2B GLA POLG MT-TC GYS1 NKX2-5 GTPBP3 ACTN2 POLG2 MYL3 MT-TS2 RYR1 MT-TQ MT-TK MT-TL1 JPH2 KCNJ5 POMT2 SPEG CACNA1D ZMPSTE24 GLRX5 ACTC1 HADHB NEXN MYL2 TPK1 PLN COQ9 MT-ND6 C1QBP FKRP TNNI3 MT-CO3 TRMT10C HSD11B2 COL1A2 SLC25A4 NONO SDHB BIN1 SDHD MYOZ2 MT-ND1 TNNT2 WDR35 HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY KMT2D NKX2-1 CTBP1 NDUFS1 LIMK1 LIPT1 MPLKIP DSG1 NEK9 WDPCP FBN2 FBN1 AFF4 ARID1B MT-CO1 EPCAM GPC3 ARL6 ELN NDUFS8 SIX3 ECHS1 DDX11 KRAS NDUFS7 RRM2B MED13L MED25 DYNC2LI1 MYRF TTC37 MT-TC SALL4 NSD1 FGFRL1 MMP14 GPR101 CHD7 COX7B TBX1 PEX1 GLA GATA4 NFIX MT-TK MT-TL1 TTC7A NSDHL MLH3 MSH2 KANSL1 PET100 NDUFAF2 DGCR8 EVC CRB2 PEX6 SHOC2 ROR2 WDR26 COLQ CCDC174 TNNI3 GJA1 COL11A2 SDHB FADD FIBP NOD2 SPECC1L CACNA1C HRAS SLC25A22 RNF113A TNNT2 MYBPC3 ATP6AP2 CEP57 SEMA3E MGP PIGQ ESS2 BSCL2 PIEZO2 CKAP2L LRP2 CALM3 PEX10 FLI1 AGL GPC4 INSR RAD21 C2CD3 ACADVL PLAGL1 SNRPB SOX2 NKX2-5 SLC19A2 ABCG8 BUB3 ARVCF AKT3 FCGR2A TCAP WDR60 FOXC2 RERE DGCR6 PEX12 MAPK1 MASP1 FANCI CTU2 FGFR1 BRF1 NDUFV1 PTPN11 TGFB1 RAI1 RAB23 FOXF1 VPS33B FOXRED1 SGCG EVC2 UBR1 FOS MT-TQ WNT4 EXT2 JPH2 KAT6A HYMAI ALKBH8 STAMBP SDHA PIK3R2 MEOX1 GLRX5 AGPAT2 PLN COQ9 SMC1A GTF2IRD1 UFD1 ARX PPARG LETM1 SDHD GATA5 MYOZ2 MED12 SLC19A3 CCND2 PEX14 PORCN MYH7 MYLK2 RFC2 DMXL2 SDHAF1 FLNB LDLR NOTCH3 ADAMTS10 MEN1 GATA6 PPP2R5D MEIS2 MT-TW EP300 NDUFA12 RYR2 NSD2 ANKRD11 LMNA MMP2 CLIP2 COMT PIGP SKIV2L JMJD1C SYNE1 RPL5 ERCC3 LRP5 EFTUD2 MT-TS2 UMPS HIRA TNNC1 BCR CPLX1 MSH6 AIP PMS1 MYL2 RAC1 CREBBP OTUD6B TMEM94 TPK1 NR2F2 GNAO1 COL1A2 RPL35A CHRM3 BUB1B MYH6 ATRX WDR35 ZEB2 MT-CYB TARS1 B3GAT3 COX15 TAB2 SIX6 SLC25A24 NUP107 LARS2 VPS13B NDUFA10 RNU4ATAC ATP6V1E1 POMT1 SELENON TALDO1 KCNA1 ABCA1 BTK CAV1 PEX13 SETD5 DGCR2 NEK1 CDKL5 TTN STRA6 NODAL MTFMT NAA10 NOTCH1 XYLT2 RPS20 BUB1 KMT2A NDUFA2 RPS26 PIGN PKD1L1 RPL10 CEP290 ABL1 TFAP2B ACTN2 NDUFA4 CDC45 SEC24C CCDC22 NEUROD2 TNFRSF11A IGF1R SOS1 TAPT1 FTO ACTC1 NDUFA9 HADHB GDF1 LAMB2 ERBB3 MT-ND6 PEX2 TRMT10C FGFR2 HSD11B2 SLC25A4 SMAD3 PRKAG2 HDAC8 THOC6 BMPR2 MT-ND1 ABCC9 SOX4 SHANK3 DHCR7 GPC6 PRDM16 NDUFAF6 PHGDH KAT6B STXBP1 IFT172 DTNA PPP1CB PEX16 PMS2 GDF6 TRAPPC11 TGFB3 NUP188 POLA1 SMAD6 CCDC28B SMG9 NDUFA13 HADHA PIGL TBX5 B3GALT6 AMER1 NIPBL B3GLCT GTF2H5 GLI3 SALL1 GMPPB CHD4 GYS1 TBCK NPPA CANT1 ARHGAP31 APOB PEX5 SLC25A20 TXNL4A RREB1 GDF3 ECE1 SPEG HOXA13 UBE3B LONP1 YY1AP1 PEX26 BMP2 LBR CFTR PAH TBX3 TRIP13 C1QBP FKRP WASHC5 MT-CO3 SCN2A MKKS EOGT FIG4 SMC3 SGCD GTF2E2 PEX19 CASK RSPO2 NXN TP63 ZNF687 NKAP TCTN3 ASXL1 NRXN1 PKP2 MT-TV SLC2A10 COQ7 MLXIPL TGFBR2 NDUFAF5 PSMD12 BCOR RPL15 MMP21 ZIC3 UBE2A POLG DVL3 FLNA GTPBP3 SEMA4A ACVR2B POLG2 MYL3 BAZ1B NSMCE2 PCSK9 CCBE1 RYR1 SFTPB TRIM8 POMT2 SLC29A3 NDUFB11 NPHP3 RARB GP1BB NONO PIK3CA CAVIN1 FAN1 LDB3 NOTCH2 JAG1 TACO1 CHST3 TET3 TWNK DYSF PEX11B RIT1 MT-CO2 MT-TF CDK8 GTF2I BMPR1A MAP2K1 EPG5 NDUFV2 HYLS1 GNPTAB ESCO2 IGBP1 CRKL LDLRAP1 IFT81 SURF1 PALB2 LTBP2 CDK13 SF3B4 UQCRFS1 DPH1 TMEM260 PQBP1 PUF60 GLI1 CACNA1D VIPAS39 BRAF ABCG5 ARCN1 ERCC2 GYG1 IFIH1 PDHA1 BIN1 CD96 XYLT1 MLH1 CAV3 HCN4 TRAIP PACS1 PNKP TKT MT-ND5 BBS1 NDUFS3 NDUFS2 NDUFS4 DLL4 MGAT2 CNTNAP2 DNAJC19 SIK1 TBL2 TGDS MAP2K2 HCCS RBM8A SCN5A WT1 MYPN VAC14 FHL1 SMN1 TCIRG1 CWC27 PEX3 NDE1 KCNJ5 SMAD4 ZMPSTE24 RPL11 NEXN CITED2 RPS19 SCN1B KDM6A HP_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_HYPERTROPHY ABCC9 LDB3 CHST3 TWNK DYSF SDHAF1 RIT1 MEN1 MT-CO2 DTNA NONO MT-CO1 MT-TF SDHA MT-TW ARL6 EPG5 CCDC28B GNPTAB LMNA HADHA RRM2B ABCA1 MT-TC GYS1 GPR101 NKX2-5 COX7B RPL5 GLA MT-TS2 MT-TK MT-TL1 SLC25A20 TNNC1 SPEG CACNA1D VIPAS39 AIP COLQ MYL2 TTN TPK1 C1QBP FKRP TNNI3 MT-CO3 COL1A2 SDHB GYG1 BIN1 NOD2 SGCD TNNT2 WDR35 MYBPC3 ATP6AP2 HCN4 ZNF687 BSCL2 B3GAT3 MT-ND5 MT-CYB BBS1 SMAD3 AGL MT-TV SLC2A10 SLC25A24 SGCG COQ7 ATP6V1E1 POMT1 SELENON CAV1 MYH7 SCN5A MYPN TCAP FHL1 PIGN POLG GTPBP3 ACTN2 VPS33B POLG2 MYL3 NSMCE2 FOS RYR1 MT-TQ SFTPB JPH2 KCNJ5 POMT2 STAMBP NPHP3 ZMPSTE24 GLRX5 ACTC1 NOTCH1 AGPAT2 HADHB NEXN LAMB2 PLN COQ9 MT-ND6 TRMT10C HSD11B2 SLC25A4 TALDO1 PRKAG2 PPARG CAVIN1 SDHD BMPR2 MYOZ2 MT-ND1 HP_MITRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_STENOSIS ZNF148 ABCC6 NOTCH2 MCTP2 ADAMTSL2 HAAO XYLT2 CHST3 PLD1 XYLT1 NOTCH1 LZTR1 UBE2A FBN1 GBA GJA1 NKX2-5 HP_RESTRICTIVE_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_CARDIOMYOPATHY ABCC6 SLC4A1 SPTA1 PIGT ACTC1 DES MYL3 PDGFRA TNNI3 SPTB ANK1 ENPP1 XYLT2 EPB42 XYLT1 HP_PROGRESSIVE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_HEARING_IMPAIRMENT NLRP3 ARSG GJB2 ALMS1 MT-ND5 MIR96 MT-CYB GRXCR1 MT-TV MT-CO2 MT-CO1 MT-TF DMXL2 MT-TW SP7 TWNK TBC1D24 ATP1A3 WFS1 LARS2 SERPINB6 MYO3A BDP1 PEX11B GATA3 MT-TC IARS2 GSDME GFER MYO6 MT-TS2 MT-TQ POU3F4 MT-TK MT-TL1 OPA1 FGF3 MPZL2 MCM2 MPZ MYH14 P2RX2 DIAPH1 MT-ND6 MT-CO3 GJB6 ACTG1 TPRN TIMM8A MT-ND1 SYNE4 HP_ABNORMALITY_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PANCREAS CHEK2 STK11 CDC73 CASR NPHP3 PRSS1 BCKDHB PDX1 IFT172 ABCC8 KCNAB2 APC SLC25A13 SPINK1 NOP10 EIF2AK3 SEC63 PMS2 RAD51C KLF11 EPCAM KCNJ11 GPC3 SETBP1 MEFV MT-TF IL12A-AS1 NADK2 CTLA4 PCCB CEP55 LHX1 APOE GPR35 DBT PRSS2 VHL HNF4A CPA1 WRAP53 STAT3 CDKN1B PRDM16 HAMP INSR AP2S1 CAV1 TP53 CLCA4 ABCB4 CC2D2A BRIP1 CCR1 MT-ND1 MT-ND4 MLH3 PTF1A MSH2 PRKCSH DCTN4 KLRC4 BLK TELO2 HNF1B KRAS ATP8B1 CFTR PALLD HLA-B TCF4 MT-TQ CDKN2A TMEM216 NBN MMUT SLC7A7 INS MEN1 SLC37A4 TF CEL XPNPEP3 TTC37 RPGRIP1 CCND1 BSCL2 RERE ASXL1 PCCA PALB2 MGMT FLI1 PTRH2 LMNA DZIP1L GPC4 RAD51D TGFBR2 MT-CO3 BRD4 SMAD4 C4A IKZF1 CEP290 UBAC2 FCGR2A WDR60 KLHL7 MST1 PNPLA2 GCK B9D1 APOC2 TGFB1 SKI SEMA4A FOXF1 NSMCE2 RTEL1 MT-TS2 EWSR1 UBR1 TMEM67 TERF2IP FOS OFD1 SLC16A1 POT1 HFE BCKDHA MDM2 RPGRIP1L LRP5 IGF2 FGFR2 SLC29A3 HLA-DPB1 PPARG PRPS1 HLA-DPA1 SRP54 AGPAT2 GCGR TINF2 CDKN1A TLR4 PIK3CA EFL1 ARX SBDS CAVIN1 SLC12A3 CDKN2C MT-TH FAN1 FAS PTEN LBR JAG1 IL12A BAP1 PKHD1 BICC1 FAH TERT RAD50 HNF1A GANAB BMPR1A PAX4 ACD DIS3L2 CLCNKB HJV B9D2 IL10 NUTM1 CDK4 NTHL1 WDPCP NPM1 MRE11 STAT4 ZFP57 MYCN GLIS3 IL23R G6PC DNAJC21 PDGFRB ERAP1 NDUFS3 COX4I2 NEUROD1 NOTCH3 PKD2 UCP2 WT1 BRCA1 PUF60 GNA11 TKFC MT-CO1 CTRC BARD1 PTPN22 MSH6 RARB PMS1 MT-TW PKD1 MT-ND5 MITF TERC PRTN3 BRCA2 RAD51 CSPP1 STX1A MLH1 LPL AAGAB MT-ND6 HOXD13 TCTN2 RNF43 APPL1 COL14A1 MC1R CIDEC HMGCL WDR19 PARN GATA6 KCNQ1OT1 SIK3 PLAGL1 RMRP MAFA PRKAR1A RBM8A STRA6 NEK1 RFX6 GABRD RPS20 CDKN1C MT-CO2 STUB1 MYC CDKN2B CBS MKS1 ACTG2 NHP2 TMEM231 KCNQ1 CTNS HYMAI TMEM107 USB1 FLNB CTC1 RECQL4 MT-TL1 DKC1 HP_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATITIS CDC73 IL12A CASR PRSS1 MMUT BCKDHB IFT172 SLC25A13 SPINK1 FLI1 MEFV MT-TF IL12A-AS1 NADK2 CTLA4 PCCB IL10 APOE GPR35 SLC37A4 DBT PRSS2 CPA1 STAT4 AP2S1 CAV1 IL23R G6PC ERAP1 NDUFS3 ABCB4 CCR1 MT-ND1 MT-ND4 KLRC4 GNA11 TKFC MT-CO1 LMNA CTRC PTPN22 ATP8B1 MT-TW HLA-B TCF4 MT-TQ MT-ND5 SLC7A7 PRTN3 LPL MT-ND6 XPNPEP3 BSCL2 CIDEC HMGCL PCCA MT-CO3 C4A IKZF1 UBAC2 AGPAT2 MST1 PNPLA2 APOC2 CFTR MT-CO2 STUB1 CBS ACTG2 NSMCE2 MT-TS2 FOS BCKDHA HLA-DPB1 PPARG HLA-DPA1 TLR4 MT-TL1 CAVIN1 MT-TH FAS HP_ANNULAR_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANNULAR_PANCREAS MYCN SKI FOXF1 TELO2 RARB STRA6 RERE RECQL4 RFX6 GABRD KCNAB2 FLI1 SETBP1 SIK3 PRDM16 HP_ACUTE_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_PANCREATITIS BSCL2 LMNA APOE AGPAT2 NSMCE2 HMGCL HP_PANCREATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CYSTS XPNPEP3 GLIS3 TCTN2 RPGRIP1 CCND1 PKHD1 MKS1 BICC1 VHL CC2D2A TMEM67 TMEM231 DZIP1L PKD2 OFD1 WDR19 GANAB RPGRIP1L TMEM107 NPHP3 RBM8A CEP290 PKD1 CEP55 B9D2 TMEM216 WDPCP B9D1 CSPP1 HP_ABNORMALITY_OF_THE_NASOPHARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASOPHARYNX RFXANK DNAAF2 DOCK8 CD79A ICOS TAP1 MGP RSPH4A SGSH RPGR NFKB1 STK11 MID1 STAT1 TNFRSF13C GAS8 CD19 AICDA FOXP1 WAS SETBP1 EP300 SCNN1A ANKH UNC119 MS4A1 FOXN1 LEPR CD79B SCNN1G CIITA ZMYND10 CD81 GLI3 SLC29A3 RNF168 SALL4 GAS2L2 ATM CFI PRPS1 MATR3 DNAAF5 GNS LRBA RFX5 HYDIN FCGR3A LEP ADNP SH2D1A NCF4 NEK10 CREBBP FGFR1 IL17RA DNAI2 TNFRSF13B PLG NME8 DCLRE1C RSPRY1 CTLA4 JAK3 LRRC6 TAP2 OFD1 SH3KBP1 IL7R CR2 TP53 GALNS MYSM1 DNAAF4 NAGLU GJA1 GLB1 IL21R RSPH1 CCDC65 SHH TNFRSF1A HGSNAT CXCR4 ACP5 TBC1D24 ZAP70 RAG2 NFKB2 MED12 ARMC4 EGFR ARSB COG4 CFAP298 TNFSF12 RAG1 PTPN22 XIAP UNG USP9X TAPBP NBN CCDC114 ADA IGHM GNPTAB KIAA0556 PNP TP63 RFXAP FGFR2 SPAG1 MST1R PRKCD DNAAF1 USB1 HPS6 SCNN1B IL2RG GUSB ASAH1 DNAAF6 HP_PHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHIMOSIS CTCF ERMARD FERMT1 DSP DKC1 PQBP1 HP_NASAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_OBSTRUCTION CCDC151 DDC ANKH GJA1 FGFR1 HP_ABNORMALITY_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPLEEN SNX14 STIM1 CCDC39 RSPH1 CCDC47 CTBP1 GLB1 SPAG1 ATRX TCIRG1 RAG1 C15orf41 KCNAB2 CPOX JAK2 BACH2 SGSH EPB42 MVK PTEN SH2B3 LYZ KCNN4 RNASEH2C DNAH1 COG7 GPC3 RRAS2 PEX7 MEFV OSTM1 APOA1 IL12A-AS1 CTSK CASP10 SPTB CC2D2A PDGFRA ERBB3 RUNX1 CEP55 ASAH1 GBE1 GPR35 CD81 THPO ATP6V1B2 ZAP70 RAG2 WRAP53 ADA2 DNAAF1 MYRF TTC37 EPB41 FGFRL1 KCNH1 KLF1 DNAH9 RNASEH2A LAT CCR1 RSPH4A PIEZO1 FAH IL6 CCND1 KLRC4 ERCC8 GATA1 GAS8 PHKG2 TNFSF11 HMGA2 TNFRSF13B PALLD TCF4 CCDC65 CDKN2A TP53 GCLC MPIG6B CTLA4 NLRP3 SLC7A7 CALR GBA ICOS ALAS2 CYBC1 RPGRIP1 VPS33A CA2 BSCL2 HSD3B7 MYD88 PKLR BCL2 PHYH MRAS PALB2 GP1BA MAN2B1 GPC4 OCLN CASK CLDN1 FASLG HAVCR2 TREX1 SMAD4 STX11 NBEAL2 LMNA HGSNAT C4A AP3D1 CEP290 ATM LIPA RPGRIP1L NOD2 ARVCF BPGM PSMB8 COG1 CLCN7 MST1 B9D1 NCF4 ARSB LYST TPP2 INPPL1 SKI RAB23 FOXF1 XIAP HBG1 F5 TMEM67 ITCH DNAAF6 FOS MPL HFE CDON B2M CCDC103 FAS GNPTAB RNASEH2B DNAAF4 LEMD3 PPARG UNC13D AGPAT2 GLRX5 TINF2 RHAG DCLRE1C VPS45 ATP8B1 APOE ANK1 ABCA1 USB1 UFD1 SOS2 SLC2A1 LETM1 MEGF8 NPC1 GPIHBP1 CAV1 IL12A PRF1 LPIN2 NLRC4 CD3D GPC1 FOXJ1 SNX10 PIK3R1 ERCC6 HBB IRF8 NCF2 TET2 IDUA DHCR24 STEAP3 SUMF1 DGUOK CD3E DNAL1 NSD2 NCF1 NLRP1 COG6 COMT DCDC2 WDPCP SLC4A1 HLA-DRB1 XK CASR RMRP FUCA1 MYCN RSPH9 SKIV2L JMJD1C GLIS3 IL23R PLEKHM1 FERMT3 LBR RAB27A ERAP1 TNFRSF13C NEU1 SCYL1 HIRA BRCA1 ADAR TNFRSF4 AKT1 IFIH1 DOLK FGA CPLX1 JAK3 CARD11 OTC IDS CTSA BCR SOS1 LCAT CSPP1 WDR35 CCDC115 DNAI1 DPM1 CYBB GSN DNAJB13 TCTN2 TERT CR2 G6PD GAA HLA-B WNT3 MKS1 ALMS1 BRCA2 IL2RB BMP2 PEX2 HJV SMPD1 FGB FOXP3 RNU4ATAC PRKCD CFAP410 TALDO1 RAF1 DDRGK1 PIK3C2A STRA6 SF3B1 HK1 TBX1 CCBE1 PSMB4 AGA RFWD3 LRRC6 DNAAF5 CCNO RIT1 IL2RA MYC UMPS CAVIN1 SEC24C NFKB2 CTNS LRRC56 PEPD TMEM107 HAMP ABL1 FGFR2 GDF1 CTC1 DNAAF3 TNFRSF1B HBA2 NLRP12 CYBA CBL MCIDAS G6PC3 PSAP IFT172 NOP10 NGLY1 PIGM A2ML1 RPSA SETBP1 CD19 GUSB SLC39A4 SLCO2A1 CFAP221 SAMD9 GNE SLC29A3 GFI1B PRDM16 RPGR STK36 SCARB2 GNS OFD1 TNFRSF11A UROS ORAI1 COG4 RREB1 CD40LG NME8 ABCB11 SAMHD1 AKR1D1 NPHP3 CFAP298 TMEM216 CFAP300 BTNL2 ABCG8 NRAS ALG9 BCL6 SPEF2 HBA1 CD28 LIG4 MCM4 NPC2 RERE ZMYND10 IL7R NAGLU RASGRP1 KRAS SP110 GPD1 ARMC4 TNFRSF1A HBG2 UBAC2 TPI1 DNAI2 PTPRC MMP21 NEK10 ZIC3 APOC2 SPTA1 ADA ABCB4 ACVR2B COG2 RTEL1 CYP7B1 ABCD3 ATP6AP1 CENPF ASXL1 SAMD9L PNP DYNC2LI1 NEK8 NOTCH1 GYPC GP1BB TLR4 SLC25A13 CFC1 FMO3 NOTCH2 MMUT PKHD1 PSMB9 SLC17A5 INPP5E SC5D NFKB1 GAS2L2 CD247 TWIST1 STAT1 CCDC151 KCNN3 RASA2 ATP7B HYLS1 DNASE1L3 ESCO2 B9D2 MS4A1 IL10 BRAF IFNGR1 FAM111A SLC30A10 COG5 NPM1 MIF AIRE STAT4 SEC23B STXBP2 COX4I2 SOX10 VPS13A PIK3CA DNAH5 ADAMTS3 FGG TTC12 HEXB SH2D1A RARB ALG1 CHD7 GATA2 TERC LPL LZTR1 SRSF2 PTPN11 CCDC40 IL2RG PARN PIK3CD GPI RBM8A TTC25 DNAAF2 WT1 GABRD DRC1 IL1RN RSPH3 TNFSF12 PHKA2 ITK CDAN1 NHP2 HYDIN TMEM231 CD27 CASP8 CCDC114 RRAS HPGD LACC1 TBXAS1 BTD KPTN GALE TGFB1 FAT4 DKC1 ALDOA AP3B1 DNAH11 HP_SPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLENOMEGALY CCDC47 ATRX TCIRG1 RAG1 C15orf41 CPOX JAK2 BACH2 SGSH EPB42 MVK PTEN SH2B3 LYZ KCNN4 COG7 GPC3 PEX7 MEFV OSTM1 APOA1 IL12A-AS1 CTSK CASP10 SPTB CC2D2A PDGFRA ERBB3 RUNX1 ASAH1 GPR35 CD81 THPO ATP6V1B2 ZAP70 RAG2 WRAP53 ADA2 TTC37 EPB41 KCNH1 KLF1 RNASEH2A LAT CCR1 PIEZO1 FAH IL6 CCND1 KLRC4 ERCC8 GATA1 PHKG2 TNFRSF13B TCF4 TP53 MPIG6B CTLA4 NLRP3 SLC7A7 CALR GBA ICOS ALAS2 CYBC1 VPS33A BSCL2 HSD3B7 MYD88 PKLR BCL2 PHYH GP1BA GPC4 OCLN CASK CLDN1 FASLG HAVCR2 STX11 NBEAL2 LMNA HGSNAT C4A AP3D1 ATM LIPA RPGRIP1L NOD2 ARVCF BPGM PSMB8 CLCN7 MST1 NCF4 ARSB LYST TPP2 INPPL1 TNFSF11 XIAP HBG1 F5 ITCH FOS MPL HFE B2M FAS GNPTAB PPARG AGPAT2 GLRX5 TINF2 RHAG DCLRE1C VPS45 ATP8B1 APOE ANK1 ABCA1 USB1 UFD1 NPC1 GPIHBP1 CAV1 IL12A PRF1 LPIN2 NLRC4 GPC1 SNX10 PIK3R1 ERCC6 HBB IRF8 NCF2 TET2 IDUA DHCR24 SUMF1 DGUOK NCF1 NLRP1 COG6 COMT DCDC2 HLA-DRB1 CASR RMRP FUCA1 SKIV2L GLB1 JMJD1C GLIS3 IL23R FERMT3 LBR RAB27A ERAP1 TNFRSF13C NEU1 SCYL1 HIRA STEAP3 TNFRSF4 AKT1 DOLK CARD11 OTC IDS BCR LCAT WDR35 CCDC115 DPM1 CYBB TERT CR2 G6PD GAA HLA-B MKS1 ALMS1 IL2RB BMP2 PEX2 HJV SMPD1 FOXP3 PLEKHM1 RNU4ATAC PRKCD SLC4A1 CFAP410 TALDO1 DDRGK1 PIK3C2A SF3B1 HK1 TBX1 CCBE1 PSMB4 AGA FGA IL2RA TMEM67 UMPS CAVIN1 SEC24C NFKB2 CTNS PEPD SLC2A1 HAMP ABL1 CTC1 TNFRSF1B HBA2 NLRP12 CYBA CBL G6PC3 PSAP IFT172 NOP10 NGLY1 PIGM CD19 TREX1 GUSB SLC39A4 SLCO2A1 GNE GFI1B SCARB2 GNS TNFRSF11A UROS COG4 RREB1 CD40LG ABCB11 AKR1D1 BTNL2 ABCG8 NRAS BCL6 HBA1 CD28 LIG4 MCM4 NPC2 IL7R NAGLU MAN2B1 RASGRP1 GPD1 TNFRSF1A HBG2 UBAC2 TPI1 PTPRC APOC2 SPTA1 ADA ABCB4 RTEL1 CYP7B1 ABCD3 ATP6AP1 ASXL1 SAMD9L PNP SLC29A3 DYNC2LI1 NOTCH1 GYPC GP1BB TLR4 FMO3 NOTCH2 MMUT PKHD1 PSMB9 SLC17A5 INPP5E NFKB1 KCNN3 CA2 ATP7B DNASE1L3 MS4A1 IL10 BRAF IFNGR1 SLC30A10 NPM1 MIF STAT4 SEC23B COX4I2 SOX10 VPS13A PIK3CA ADAMTS3 SH2D1A ALG1 CHD7 GATA2 TERC LPL SRSF2 IL2RG PARN PIK3CD GPI IL1RN TNFSF12 PHKA2 ITK CDAN1 NHP2 CD27 CASP8 HPGD LACC1 TBXAS1 BTD IFIH1 GALE TGFB1 FAT4 DKC1 ALDOA AP3B1 KRAS HP_ACCESSORY_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_SPLEEN MYCN FGFRL1 TCTN2 CTBP1 RPGRIP1 MKS1 CC2D2A TMEM67 TMEM231 CENPF RPGRIP1L TMEM107 CPLX1 NSD2 HYLS1 CEP290 ESCO2 CEP55 B9D2 TMEM216 LETM1 WDPCP B9D1 CSPP1 MYRF HP_POLYSPLENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYSPLENIA CCDC39 MYCN GPC3 RAB23 NPHP3 GDF1 CFC1 MMP21 GPC4 CDON MEGF8 ZIC3 RFWD3 WDR35 HP_SINGLE_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_VENTRICLE STRA6 NSDHL GDF1 ZIC3 SIX3 HP_VESTIBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_DYSFUNCTION ARSG JAK2 SLC39A14 SDHD IL12A RET USH1C CACNA1A NAGA POLG SLC1A3 DLST SDHB NF2 SDHAF2 GJB2 VHL MVK SH2B3 STAT5B PRKAR1A FLI1 TET2 NF1 GCDH MEFV IL12A-AS1 CLRN1 CTNNB1 CLCNKB NABP1 IL10 GJB3 RYR2 PCDH15 THPO PML CIB2 STAT4 IL23R RFC1 ERAP1 TRPM4 CACNB4 MYO7A GLA STAT3 DBH CCR1 NOP56 BRAF PDGFB KCNJ10 SLC26A4 CEP78 KLRC4 CDH23 DKK1 ATXN3 CALM1 SDHC FH TBL1XR1 JUP MYL2 TPK1 ATP1A2 BCOR GYG1 USH1G TMEM127 TRDN GATA2 MEN1 EPOR EGF SCN1B IRF2BP2 CLIC5 COCH CACNA1G MDH2 FOXI1 DNMT3A SLC12A3 CNNM2 CCND1 HLA-B CALM2 MYD88 GJB6 B2M ZBTB16 MYO6 NARS2 NKX2-5 FXN SDHA TECRL TNFRSF1A C4A CALM3 UBAC2 MAX NUMA1 RARA KIF1B ESPN EPAS1 AIP PTPN22 TWNK SLC25A11 KCNA1 SCN5A TIMM8A MPL FIP1L1 HFE PTPRQ CASQ2 OTOGL TLR4 NPM1 ADA2 HARS1 MT-TS2 FAS COL3A1 HP_VESTIBULAR_HYPOFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_HYPOFUNCTION USH1C ARSG CDH23 PCDH15 CLRN1 OTOGL USH1G MYO7A HARS1 MT-TS2 ESPN CEP78 CIB2 HP_ABNORMAL_FOOT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOOT_MORPHOLOGY TWIST1 CTBP1 PHF6 PIGH INSR FKRP KCNAB2 ARHGAP31 RAB3GAP1 NEFL UBE3B FGFR2 ERGIC1 CTSB TP63 WASHC5 EGR2 TMEM138 DYNC2LI1 RAG2 CHMP1A NSD1 FGFR3 BPNT2 ARHGEF6 KMT2A WDR35 CC2D2A BGN PTCH1 DSP SEC23A EMG1 ANOS1 VPS13A B9D1 FGFR1 ARX GAN TTPA NDUFAF6 DLG4 NT5C2 NECTIN1 ATP6AP2 ROR2 XRCC4 RAB33B ESS2 BSCL2 PIEZO2 HSPB1 GNAS IFT43 BBS2 RMRP REEP1 TCTN2 PHYH SLX4 CHRNG BCOR DHODH SLC26A2 ARL3 GABRG2 ATRX TRIP11 H1-4 TBR1 IGHMBP2 BRF1 FBXO11 RAI1 PHGDH COA7 FLRT3 MYH3 EVC2 MYO9A GDF5 RHBDF2 COL5A2 SOX9 SALL4 USP8 EBP MAGEL2 LTBP4 MYH14 IFT80 UFD1 LETM1 KIAA0586 MEGF8 SNORD115-1 ZFYVE26 SH3PXD2B HACE1 TBCE TGM1 ATP6V1B2 SGCA TRPV4 FKBP10 PPP2R5D DCC PEX2 EP300 POU3F4 DLL4 FREM1 IRF6 EXTL3 DEAF1 SPG7 SIN3A CUL7 PDE4D MMP2 WDPCP HESX1 KLC2 PIGP ZFYVE27 CRPPA C19orf12 BMPR1B NPR2 DCHS1 MAFB PEX5 ATP6V0A2 ERLIN2 DMPK BCR CEP41 IQSEC2 RETREG1 FBN1 CRIPT DOLK CREBBP OTUD6B PMP22 HPGD SLC25A1 MATN3 EZH2 NALCN NOG KDSR GALC NSD2 GARS1 TNNT3 MAD2L2 ZMPSTE24 MED12 GRIP1 NBAS PPP2R1A FKTN SPART HINT1 VPS13B GJA8 HDAC6 DYNC2H1 KCNA1 SMARCE1 DGCR2 SLC18A3 CHSY1 SNCA KIAA1109 NEK1 CAV1 NAA10 TGFBR2 XYLT2 USP7 HUWE1 PIGN RPL10 ABL1 NIPA1 MME TRAIP CHRM3 SCN2A TNNI2 CDC45 XYLT1 TCF4 ACTA1 GFPT1 FAT4 ERCC5 GJB1 PRKAR1A PEX10 RTN2 FBXO38 RECQL4 TPM2 PALB2 SCN1B FGF14 PDE6D ASAH1 CCN6 ABCC9 GMPPB ASNS COL13A1 NSDHL PRDM5 KARS1 SH3TC2 GRM1 SC5D STXBP1 GBA2 DMD EIF2AK3 MAPK8IP3 SMARCD1 COL6A2 TGFB3 NUP188 RPS6KA3 ALMS1 GUSB CCDC28B PLOD2 PIGL AMER1 TUBB3 PRDM16 HSPG2 PLOD1 B4GALNT1 KIAA0825 TBCK GMNN IFT52 BHLHA9 COL11A2 TPM3 SPG11 SLC9A6 DCAF8 RREB1 AP4M1 HOXA13 GJB6 SELENON LBR PEX7 WWOX COG6 TMEM216 EOGT TMCO1 ALG12 ACTB GLI3 AAGAB TRIM2 HGD GABRA1 TRMT10A NXN CTSC ADGRG6 WDR60 SMARCB1 COQ8A CLCF1 PPP2R3C PSMD12 POR CNTNAP1 CNKSR2 DDHD1 PRG4 AEBP1 LIFR FBXO7 MYH7 MAB21L2 FLNA LAMC2 UPF3B SETX PIK3CA CCBE1 RYR1 MKS1 ATP7A TBX4 GP1BB REV3L MYOT ERCC1 CPT1C ENTPD1 RAD51 PTCHD1 ACSL4 PDK3 CERT1 TET3 ATN1 LAMA3 COL3A1 SLC17A5 ADAT3 LIG4 HOXD13 ERCC6 HARS1 INPP5E ALG3 VAMP1 VCP FLNB EXT2 MFAP5 SMC3 HRAS KYNU ESCO2 LMBR1 LOX BRAF CRKL EXOC6B FMR1 SLC33A1 AP4S1 GJB2 UROS ITGB4 TBX22 KY CENPJ RLIM ADAMTS3 RAD51C TRPS1 PAK3 IBA57 KRT10 CDC42 TMEM67 IDUA TBX1 TBL1XR1 CD96 LMNA NECTIN4 DPH1 OFD1 SETD5 MYL2 BMP4 IL2RG PRPS1 SACS COL6A3 MGAT2 KDM5C FLRT1 DHCR24 CANT1 KRT1 CDK10 POLG WDR19 PERP TGFBR1 C12orf65 ARL6IP1 AHI1 HPRT1 ZSWIM6 IARS2 KIF7 MAT2A CUL4B SYNJ1 TDP1 SERPINB7 DNAJB2 GJA1 GDAP1 GTF2E2 TBX3 B4GALT7 SNX14 PPM1D SMS SHOX TMEM231 LIMK1 MYBPC1 AMMECR1 CCNK SLC6A9 ARL6 ELN CTSK COL1A2 CEP55 ATR ELANE ADGRV1 KRT5 SYNE2 FGFRL1 BICD2 ALDH18A1 CDKL5 PPP3CA AIFM1 KANSL1 COL17A1 AP4E1 SMARCD2 SLC5A7 MORC2 TRIP12 NLRP3 IL1RAPL1 HK1 SYNE1 ITGA8 PITX1 MTOR MYMK DOCK6 ZC4H2 FRAS1 IRF5 DNAJC6 SKI C1R GZF1 NDN MAPK1 MASP1 EXT1 CTU2 MYH8 APTX DYNC1H1 HNRNPH2 DST FIBP FOS CCDC141 CPLANE1 TSPAN7 WNT7A PLEC FARS2 ASXL3 HNRNPK NUP88 TMEM237 RIPK4 ERCC4 DMXL2 INPP5K ADAMTS10 GTPBP2 METTL23 TWIST2 SMAD3 RAB3GAP2 TMEM43 ATP2A2 BMP2 INF2 WNK1 SLC25A46 ACVR1 GHR WNT10A SCYL1 AP4B1 ANO10 BRCA2 NELFA SYT1 RXYLT1 MFN2 NSUN2 TRRAP RAB11B DDR2 NDRG1 ARSI BRCA1 CSPP1 ZNF469 PCDH19 ZNF711 SON TERT FKBP14 AHCY COL5A1 RNF6 FGF17 ATP6V1E1 GDI1 RBPJ EFNB1 TTN PTHLH TFAP2B USP9X SOX5 HDAC4 CCDC22 MPZ PYCR2 PMP2 SATB2 MFSD2A RAG1 MTM1 OPA1 CEP120 RSPRY1 SPRTN FTSJ1 CIBAR1 KMT5B SLURP1 HADHA DLX5 SETD2 COL2A1 FBLN1 SAMD9 PTEN COG4 GNE SLC29A3 WDR11 CENPE ATP1A3 RFT1 MYPN SCN9A CXorf56 KLHL41 CTDP1 SCARF2 TCTN3 ZNF148 PKP1 UBE2A SEMA3E FANCF IFT140 TGFB2 CHD7 ADAMTS2 DNM2 GPR101 FERMT1 PHF8 TCF12 FANCG KCNH1 FUZ HDAC8 NIPBL YY1 ASXL1 IL7R KIAA0556 PTRH2 ANK1 AIP KIAA0753 TAZ RUSC2 GRIN2A FANCI MBTPS2 SLC39A13 CYP7B1 ATP13A2 PRKCG CCT5 BIN1 COX6A1 SPECC1L ABCA12 HACD1 DPYS RPGRIP1L TRIM8 ATL1 MMP14 MECP2 SF3B4 REPS1 HERC2 SCO2 ADAMTSL2 FGF10 ZNF423 TRIP4 DPF2 TYROBP NOTCH2 DACT1 CHST3 MBD5 DYSF SMOC1 PLXND1 EIF4A3 LMX1B EMD LRP4 GJC2 USP27X PPP1R15B KCNN3 DHCR7 ATAD1 PMPCA B9D2 COL12A1 NEFH BMPR1A EHMT1 KRT6A HCN1 KIF1A DNMT3A PQBP1 FOXG1 VIPAS39 CEP290 KCNJ8 CRLF1 IFIH1 KAT6B SHH POMK PACS1 SPAST SPTLC2 COL11A1 FBXL4 LITAF COL1A1 MAPRE2 TRIO STX1B TGDS ERMARD SOX18 SYT2 VAC14 FHL1 MT-TE CCNQ IFRD1 PRX FXN B3GALNT2 HSPB8 PYROXD1 PSAT1 SCN1A EVC EED GATA1 WDR73 HBA2 ALOX12B PROKR2 SLC6A8 CLCN4 HAAO NEB NEK9 GNB4 REEP2 ARID1B GPC3 BRIP1 DDX11 MED25 OPA3 LTBP3 SMO LRP5 COX7B GSC NFIX LGI4 DGCR8 MEGF10 TWNK COLQ ORC6 PI4KA KRT83 SETBP1 SLC35A2 PDGFRB PIGQ RPGRIP1 GATAD2B UCHL1 CKAP2L COL6A1 MT-TW PTCH2 WRN DVL1 INPPL1 KIF5A SUFU NRAS RAD21 NEDD4L RSPO1 PSMB8 FANCA VRK1 KLHL7 DGCR6 RAB23 TCTN1 CHD3 SGCG TAF1 XRCC2 KISS1R ABHD12 MTMR2 SUZ12 KRT14 ALPL ARL13B WNT5A AGPAT2 ATAD3A JPH1 HSD17B4 DCLRE1C CEP104 GTF2IRD1 COG8 FANCB DPM3 MRE11 PIGY FANCM AGRN NKX2-5 MEN1 GPC4 C12orf57 SUMF1 ARMC9 SLC25A19 SNRPN CLIP2 ERCC2 COMT SIL1 HLA-DRB1 PEX26 PLAA MCM3AP CAV3 TAF2 PCGF2 NOTCH1 HIRA AKT1 PTH1R SRY CPLX1 TMEM94 GNAO1 WDR34 ZNF41 KCNK9 FGD1 TRPV3 PLK4 GATA4 SYP RIN2 SLC9A7 SBF2 SOX10 PWRN1 AGA SIGMAR1 PIBF1 IHH CILK1 ARID2 SLC35C1 IGF1R FBLN5 ALG8 DNM1L IFT122 PMM2 POLR3A THOC6 CCDC8 RNU4ATAC MSX1 SMARCAD1 MGP CEP152 NGLY1 SARS1 KRAS SLCO2A1 B3GALT6 B3GLCT SALL1 HCFC1 MEF2C SLC18A2 WASF1 POMGNT2 MSTO1 ATP1A1 TXNL4A HS6ST1 LAS1L SBF1 SLC39A8 GABBR2 MKKS RAB7A DCPS COASY NKAP ACTA2 SLC12A6 COG1 SMAD4 MAP3K7 TBX15 PRKG1 IFT57 ALOXE3 KCNJ2 FANCD2 ADA BRWD3 IL11RA GCH1 BAZ1B CAPN1 PIGO TLK2 L1CAM RBBP8 POMT1 NONO GRIN2D CAVIN1 RIT1 CHCHD10 HYLS1 MUSK GNPTAB TACR3 ATRIP IRX5 ZBTB20 ECEL1 MPV17 PIGV ERF TAF6 ALG13 AAAS PUF60 SLC35A3 SLC25A24 RSPO2 DUSP6 TBC1D24 DHH POC1A FLII FRMPD4 PNKP CHP1 SNORD116-1 NSMF BBS1 CCN2 CHAT ARL6IP6 ATP6V1A CTCF LARGE1 PDXK GABRD RET POMT2 ADK BPTF PLP1 CCR6 ALS2 PIGG NDE1 TGFB1 CTH TRAPPC11 FEZF1 BAG3 ZNF81 SLC16A2 BMS1 GLE1 CCDC47 GJA5 FBN2 FANCL PLEKHG5 DDX59 LRSAM1 PWAR1 SDR9C7 MED13L PORCN SMC1A RAB39B KIF14 FGF8 GDF6 LIMS2 DYRK1A PCNA RHOA SOX11 TELO2 WARS1 KRT9 IFT172 WDR26 SLC25A22 SMARCA2 TMTC3 VPS33A FLI1 MAN2B1 FAM20C C2CD3 KIAA0319L MCTP2 LARS1 ARVCF MID2 PRUNE1 HBA1 DONSON LAMP2 SLC35D1 VPS33B ATL3 PODXL DHX30 GBA UBE2T HERC1 COMP PEX1 USB1 PPARG STAG1 ALG14 MYH11 PYCR1 TBC1D23 DLEC1 TTC21B RBM10 VLDLR TFG PHEX RFC2 SNAP25 DPAGT1 ACAN GPX4 DSE DDHD2 GORAB MYCN JMJD1C TCF20 VANGL1 GRIA3 TTI2 AUTS2 IDS DES KIF22 FGF9 ALG2 DYM PEX6 SOX4 HSPD1 B3GAT3 ARID1A CPT2 B4GAT1 MYLK PIGS GMPPA SEC24C IFITM5 NEUROD2 FN1 TMEM107 SPRY4 HADHB LAMB2 PRMT7 MEIS2 FANCE SHANK3 TRMT1 AARS1 SMARCC2 KRT17 STAG2 CHST14 RFWD3 SHROOM4 VPS13D WIPI2 SLC10A7 NOD2 CHST11 INTS1 SPEG IL17RD ADNP LONP1 NPAP1 HTT EIF2S3 FIG4 CASK RERE MLXIPL CHD8 FREM2 NUP107 POMGNT1 APC LAMB3 SLC2A10 OBSL1 CHN1 EXOSC3 PCNT SMARCA4 ITGA7 NPHP3 NEK8 PLOD3 DVL3 MAF PANK2 WNT10B FAM149B1 FGD4 GTF2I BMPER KBTBD13 UNC80 COL4A1 STAC3 YARS1 TMEM260 AGTR2 GLI1 MKRN3 BRPF1 ARCN1 ADAMTSL1 SCYL2 CLTCL1 ORC1 PROK2 CAMK2G SIM1 NKX2-6 TH DLG3 FANCC KIF1B SIK1 DAG1 TBL2 SIK3 RBM8A IGF2 FA2H KCTD1 SEMA3A GATA6 KRT16 ZDHHC9 MAN1B1 MAP3K20 PLA2G6 HOXD10 FOXE3 WDR81 FDX2 HP_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_CAVUS DYNC1H1 COL13A1 SLC6A8 KARS1 SH3TC2 PNKP VAMP1 AARS1 NEB PMP22 GNB4 TRPV4 GBA2 REEP2 FGFR1 DDHD1 NEFL PEX7 GCH1 BSCL2 C19orf12 LRSAM1 REEP1 HADHA VPS13D TDP1 WASHC5 EGR2 COQ8A MED25 ATP6V1B2 B3GLCT FGF8 CHMP1A DMXL2 WDR11 PHYH KCNH1 OPA3 CAV3 MPZ ATP1A3 B4GALNT1 MSTO1 HARS1 ATP1A1 PCNA MFN2 NFIX TPM3 HSD17B4 SPG11 KLHL41 AIFM1 GALC DCAF8 CTDP1 HS6ST1 LAS1L ALDH18A1 ANOS1 SLC5A7 VPS13A TWNK SPEG IL17RD WARS1 LBR WDR26 GARS1 DNM2 MORC2 SLC33A1 RSPRY1 RAB7A NLRP3 GAN TTPA TRIM2 MMP2 XRCC4 COASY POLG HK1 UCHL1 HDAC8 MT-TW CAPN1 RUSC2 KIF5A DNAJC6 GRIN2A FXN VCP TPM2 CYP7B1 MYH7 MME ATP13A2 RTN2 BIN1 UBE2A APTX ACTA1 COX6A1 ERCC5 LAMP2 COA7 AAAS FLRT3 ANO10 SETX KISS1R RYR1 CCDC141 GJB1 PODXL SIN3A ABHD12 SYNE1 ATL1 GBA REPS1 GDAP1 L1CAM LMNA PRPS1 ZFYVE26 CPT1C HSPB1 MRE11 PDK3 MYO9A CUL4B DYSF AGRN SNAP25 FGD4 DCC KLC2 PEX2 GJC2 SOX10 PLEKHG5 CHCHD10 KCNN3 KBTBD13 SPG7 TACR3 PMPCA ZBTB20 PRX HESX1 PEX5 MECP2 MPV17 NEFH GJB2 EZH2 INF2 SLC25A46 MYPN MAFB PCGF2 PQBP1 SPART IBA57 IDS DUSP6 RAB11B IDUA SLC25A1 IFIH1 DHH NSD1 PROK2 TH HSPD1 PEX10 CHP1 PROKR2 NSMF SPAST SACS ATP7A LITAF ERLIN2 KIF1B CHAT HINT1 FGF17 FLRT1 SUZ12 FBN1 PDXK SLC18A3 SYT2 TTN SBF2 RET FHL1 SIGMAR1 FGF14 PIGN IFRD1 IQSEC2 SEMA3A NIPA1 USP9X GMPPA HSPB8 PYROXD1 CHD7 NSUN2 FBLN5 C12orf65 PLP1 PMP2 SYNJ1 SPRY4 HADHB DNM1L ALS2 DNAJB2 FBXO38 GTF2E2 EED TRAPPC11 FEZF1 WDR73 BAG3 OPA1 FDX2 HP_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVARUS SNX14 HACE1 NALCN GLE1 CCDC47 CTBP1 GLI3 MSX1 MYH3 B4GALT7 MYBPC1 NEK9 FBN2 CHST14 PLEKHG5 GDF5 MYMK SHROOM4 SOX9 GPC3 SLC6A9 SETBP1 TGFB3 SLC26A2 TGFB2 GCH1 FLNB COL1A2 PLOD2 ERGIC1 COL2A1 ATRX B3GALT6 AMER1 SAMD9 COG4 SYNE1 CHRNG CHMP1A FGFRL1 BICD2 HSPG2 LIMS2 ALDH18A1 PLOD1 GSC PIEZO2 FKBP10 TRPV4 ARHGAP31 HSD17B4 LGI4 CTDP1 SCARF2 RREB1 TWIST2 AP4E1 ZNF148 ZSWIM6 MEGF10 SPEG SELENON KIF1A EXOC6B NECTIN1 COLQ DCHS1 ORC6 PI4KA TCTN2 TMCO1 EIF2S3 GAN RAB3GAP2 ALG12 HRAS TRIM2 BMPR1B SLC35A2 ITGA8 PITX1 TMTC3 KDM5C TNNI2 AP4S1 NKAP HK1 FUZ HSPB1 ZC4H2 IHH COG1 PTRH2 MAN2B1 TBX15 GPC4 ANK1 ADGRG6 TAZ COQ8A RUSC2 COL3A1 LETM1 COL6A3 MEGF8 MCTP2 BCOR ARVCF LMX1B PRUNE1 TPM2 H1-4 GZF1 BIN1 CTU2 HBA1 UBE2A MYH8 LIFR DONSON IGHMBP2 FBXO7 RYR1 MYH7 RAI1 CHN1 B9D1 DST TAF1 FIBP TNNT3 KY CCBE1 HACD1 MTMR2 DPYS GNPTAB COL5A2 WNT7A SALL4 SF3B4 USP8 ITGA7 SMOC1 NEK8 L1CAM JPH1 EBP PLOD3 GP1BB REV3L PEX1 PSAT1 COG8 UFD1 SH3PXD2B ENTPD1 AP4B1 TBC1D23 RBM10 CHST3 C12orf65 GTPBP2 ACTA1 ADAT3 PLXND1 SC5D FGD4 EIF4A3 ALG3 BMPER C12orf57 NSD2 HYLS1 IRF6 MUSK UNC80 ATAD1 SLC25A19 COL12A1 COMT GPX4 COL6A2 DSE AP4M1 ECEL1 PEX5 ZFYVE27 JMJD1C PEX26 VANGL1 EZH2 EHMT1 TP63 MAFB FKTN SCYL1 KAT6B MED13L DMPK HIRA TGFBR2 CEP55 STXBP1 SMS NELFA SYT1 FOXG1 RSPO2 CRIPT CPLX1 OTUD6B DES BRPF1 RAB11B NDRG1 COL6A1 CRLF1 IFIH1 TBX1 ARSI CHRM3 NSD1 ORC1 DYM OFD1 MYL2 TH MAP3K7 TRAIP B3GAT3 PEX2 FKBP14 COL5A1 FAT4 ATP6V1A TGDS ATP6V1E1 SUZ12 DHCR24 RBM8A MYPN SNCA KIAA1109 TTN SBF2 CANT1 CC2D2A GDAP1 SATB2 RAB23 NT5C2 TGFBR1 SEC24C DYNC2H1 TPM3 TBX4 SKI ERCC5 STAC3 FLNA ALG8 ATP6V0A2 MAP3K20 LAMB2 EVC EVC2 NDE1 RECQL4 SMAD3 EED CTH WDR73 MFSD2A GUSB HBA2 HP_PES_PLANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_PLANUS GMPPB PROKR2 FANCE PRDM5 LIMK1 TRMT1 CLCN4 GRM1 B4GALT7 STAG2 FANCL FGFR1 DMD SARS1 RFWD3 SPRTN ALG2 FTSJ1 TCF4 AMMECR1 CCNK TGFB3 TGFB2 ELN BSCL2 RPS6KA3 ALMS1 UPF3B SCN1A COL1A2 HERC1 BRIP1 SLC10A7 GABRG2 ATR B3GALT6 ATP6V1B2 ADGRV1 RAI1 RAB39B HCFC1 SLC29A3 FGF8 SALL4 NSD1 WDR11 KCNH1 GDF6 PLOD1 ARHGEF6 WASF1 HSPG2 MYPN SCN9A BGN CXorf56 FKBP14 HS6ST1 AEBP1 LAS1L SEC23A ZNF148 ANOS1 SBF1 AP4M1 UBE2A IL17RD FANCF TTN GARS1 ARX RSPRY1 FIBP RAB7A TMCO1 PHF8 NDUFAF6 IL1RAPL1 DLG4 ATRX GABRA1 MMP2 ATP6AP2 MTOR FGD1 RAB33B FANCG ACTA2 UCHL1 HDAC8 ZNF469 RYR1 SLX4 FLI1 SMAD4 PRKG1 CHD8 SALL1 COL2A1 FANCI SKI CEP152 MYH7 FANCD2 CNKSR2 MID2 SLC39A13 FANCA LMX1B GAN MAPK1 TRPV4 CTSC FBXO11 IQSEC2 BRWD3 MAB21L2 ASXL3 HNRNPH2 FLRT3 BAZ1B XRCC2 KISS1R CCDC141 EXT2 TSPAN7 DHX30 MECP2 ATP7A UBE2T TGFBR1 SCO2 TLK2 TBX4 SCN1B NONO GTF2IRD1 GRIN2D XYLT2 ALG14 FANCB MYH11 PYCR1 AP4B1 DPM3 RAD51 VLDLR PTCHD1 ACSL4 CUL4B DACT1 CHST3 TET3 FANCM RFC2 ERCC4 ATP6V0A2 METTL23 GTF2I DCC SMAD3 MFAP5 DPAGT1 C12orf57 EP300 SOX10 USP27X CHCHD10 KCNN3 DEAF1 PDE4D TACR3 PIEZO2 CUL7 LOX CLIP2 COL12A1 CRKL EXOC6B FMR1 HESX1 AP4S1 SIL1 GORAB GRIA3 TPM2 SLC9A7 HCN1 ALG13 RIN2 AGTR2 RLIM BCR RAD51C PUF60 BRCA2 VPS13B TGFBR2 TPM3 FOXG1 COL5A1 FBN1 PAK3 STXBP1 CREBBP DUSP6 LMNA CRLF1 KIF22 TBL1XR1 ZNF41 BRCA1 DPH1 DYM PROK2 FLII PEX6 FRMPD4 PCDH19 PACS1 GABRD ZNF711 B3GAT3 NSMF MAD2L2 MED12 DLG3 FANCC AP4E1 TRPS1 MGAT2 COL1A1 AHCY GATA4 MAPRE2 SYP TRIO GDF5 STX1B TBL2 FGF17 ATP6V1E1 SELENON FLNB GDI1 CANT1 AGA MYLK CDK10 COL5A2 ABL1 SEMA3A USP9X SOX5 SCN2A XYLT1 IFITM5 FN1 PYROXD1 CHD7 BPTF IARS2 ZDHHC9 GFPT1 MAT2A FLNA SPRY4 PIGG PMM2 TGFB1 FOXE3 PALB2 FEZF1 ZNF81 SLC16A2 HP_HAMMERTOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMMERTOE PMP22 GARS1 CHP1 AARS1 PHYH MPZ GDAP1 SACS NEFL GNB4 TRPV4 KIF1B SPART HARS1 BSCL2 BCOR VCP BMPER PEX7 PLEKHG5 FBN1 PDXK LRSAM1 CHCHD10 DHCR7 SYT2 SBF2 EGR2 SIGMAR1 MYH8 MFN2 MPV17 COA7 PRX INF2 DCAF8 AEBP1 SLC35A3 HSD17B4 RAB7A REEP1 HP_BROAD_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOOT GDF6 FGD1 EZH2 PHGDH BSCL2 XYLT1 BBS1 FOS GPC4 LMBR1 AIP PSAT1 GPC3 ARL6 SUZ12 AGPAT2 CAV1 FGFR1 CCDC28B PDE4D GPR101 PHF6 AIFM1 PPARG NLRP3 CAVIN1 TBL1XR1 EED NSD1 MASP1 B3GLCT DYM BMPR1B PTH1R HP_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_SYNDACTYLY BMS1 FANCE DYNC2LI1 SHANK3 DHCR7 SMARCAD1 PHGDH CLCN4 SC5D FANCL GLI3 SMO RFWD3 FTSJ1 TP63 GPC3 UPF3B FGFR2 BRIP1 DDX11 PORCN CPLANE1 FBLN1 NIPBL HOXD13 MED25 GNE RAI1 SALL1 RAB39B HCFC1 MEF2C GJA1 ARHGEF6 SALL4 TBCK WDR60 BHLHA9 ARHGAP31 FGFR1 FLNA CXorf56 RHOA TXNL4A TWIST2 TCTN3 TELO2 FANCF ADNP ROR2 IFT140 IFT172 SLC39A8 ARX RIPK4 IL1RAPL1 SMC3 NECTIN1 NXN FANCG SLC12A6 HDAC8 CKAP2L SLX4 FLI1 TBX15 GPC4 PIK3CA FRAS1 BCOR CLCF1 FREM2 LMBR1 PSMD12 FANCI RAD21 NEDD4L MCTP2 KCNJ2 NEK9 FANCD2 CNKSR2 RPS6KA3 MID2 FANCA APC TBR1 MAPK1 MYH8 IQSEC2 EBP ATP6V1B2 RAB23 NOG IL11RA XRCC2 WDR19 B3GLCT TSPAN7 SIN3A WNT7A MECP2 UBE2T SMOC1 RBBP8 SMC1A IFT80 STAG1 FANCB MEGF8 RAD51 TTC21B PTCHD1 ACSL4 PIGY CERT1 DYNC2H1 DACT1 FANCM ERCC4 WNT10B LIG4 CCNQ LRP4 DLL4 USP27X DEAF1 CRKL IRF6 MYCN TWIST1 SF3B4 BMP2 ITGB4 SOX5 TTI2 ALG13 TBX22 AGTR2 BCR RAD51C BRCA2 CEP55 SYT1 PAK3 NSUN2 GRIP1 ARCN1 ZNF41 BRCA1 CD96 FGF9 NECTIN4 FLII SETD5 OTUD6B SHH FRMPD4 ZNF711 TRIO MAD2L2 FIG4 DLG3 FANCC SYP ARL6IP6 SIK3 CTCF PLEC GDI1 RBPJ DMD POLR3A SLC9A7 WDR34 KMT2A KCTD1 RPL10 EFNB1 GDF5 TFAP2B HDAC4 CDC45 BMPR1B BMP4 KIF7 SMAD4 MAN1B1 CUL4B USP9X MED12 PALB2 MEIS2 PUF60 ZNF81 CEP120 HP_ACHILLES_TENDON_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHILLES_TENDON_CONTRACTURE BICD2 SGCG SGCA FKRP ADAT3 KY ACTA1 NSUN2 GJB1 FKTN NGLY1 ABHD12 POMT1 LMNA HINT1 EMD PLEC FHL1 LARGE1 OPA1 TMEM43 ALS2 COL6A2 CRPPA MYOT MT-TE HRAS SYNE2 SYNE1 HP_TALIPES_EQUINOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVALGUS TNNT3 CHST3 CLTCL1 GDF5 B3GAT3 FLNB B4GALT7 ESCO2 HP_SHORT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOOT PPM1D SHOX CUL4B TBCE CERT1 FGFR1 DYNC2LI1 DYNC2H1 CCDC47 FMR1 KCNAB2 GPC4 LIG4 GDF5 IFT80 LAS1L FGFR2 MAPK8IP3 FGFR3 GPC3 SMC3 ARL6 CCDC28B SNRPN PWAR1 PIGL NIPBL B3GLCT SMC1A TUBB3 PRDM16 BPNT2 LTBP3 GJA1 BMPR1B NOG CENPE CDKL5 WDR60 WDR35 LMBR1 TRPS1 UBE2A TELO2 EXOC6B NSUN2 IFT140 IFT172 COL2A1 NPAP1 MKRN3 HDAC6 TRRAP GABBR2 HTT WDR34 B3GALT6 FBN1 CAMK2G SIM1 SETD5 KDM5C FGD1 HDAC8 SNORD116-1 RERE IHH COG1 BBS1 SON COL11A1 MAP3K7 FBXL4 SPART WNT7A INPPL1 RAD21 KCNJ2 MBD5 CHSY1 SLC26A2 GABRD TRIP11 PWRN1 KLHL7 USP7 KMT2A HUWE1 NDN MASP1 PIGN PTH1R WDR19 BGN FBXO11 SKI BMP2 USP9X SLC35C1 HDAC4 NGLY1 CCBE1 IGF1R MAGEL2 MECP2 ASXL1 COL3A1 HERC2 ADAMTSL2 COMP RECQL4 SHROOM4 TBL1XR1 SNORD115-1 CEP120 WDR81 TTC21B HP_BILATERAL_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TALIPES_EQUINOVARUS SYT1 RSPO2 ATRX DHCR24 EBP PIEZO2 PSAT1 GDF5 MAN2B1 SLC26A2 CTU2 UBE2A SYNE1 HP_ABNORMALITY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TOE TWIST1 CTBP1 PHF6 PIGH CLCN4 PMP22 KCNAB2 GNB4 ARHGAP31 WDPCP ARID1B PTEN RAB3GAP1 TP63 GPC3 FGFR2 BRIP1 DDX11 TRPV4 EGR2 TMEM138 MED25 DYNC2LI1 RAG2 SALL4 FGFR3 BPNT2 KCNH1 GJA1 SMO COX7B ARHGEF6 KMT2A CC2D2A DSP B9D1 COL2A1 ARX NT5C2 NECTIN1 SETBP1 RAI1 ROR2 PIGQ RPGRIP1 INPP5E GATAD2B IFT43 BBS2 CKAP2L RMRP COL6A1 TCTN2 PHYH SLX4 NEK1 ESCO2 BCOR DVL1 LMBR1 NRAS RAD21 NEDD4L CEP290 MBD5 RPS6KA3 ARL3 PSMB8 FANCA TBR1 FBXO11 RAB23 TCTN1 COA7 MYH3 EVC2 XRCC2 TNNT3 TMEM67 WDR19 OFD1 SOX9 EBP ARL13B WNT5A HSD17B4 DCLRE1C LTBP4 CEP104 GTF2IRD1 IFT80 COG8 UFD1 LETM1 FANCB KIAA0586 MEGF8 REEP1 PIGY FGFR1 FANCM NKX2-5 GPC4 PPP2R5D C12orf57 EP300 DLL4 FREM1 SUMF1 ARMC9 EXTL3 DEAF1 SIN3A PDE4D CLIP2 COMT PIGP BMPR1B NPR2 SOX5 PCGF2 ERLIN2 NOTCH1 HIRA BCR CEP41 TBCK IQSEC2 RETREG1 AKT1 TGFBR2 SRY DOLK CPLX1 CREBBP OTUD6B TMEM94 GNAO1 HPGD ZNF41 HSPB1 EZH2 NSD2 GARS1 TRIO MKS1 MAD2L2 MED12 GRIP1 NBAS PLK4 PPP2R1A GATA4 HSPB8 SPART SYP VPS13B GJA8 KCNA1 MPZ SMARCE1 SLC9A7 CHSY1 KIAA1109 SBF2 NAA10 HUWE1 SIGMAR1 PIGN RPL10 PIBF1 IHH CILK1 NOG ATR TRAIP ARID2 CDC45 XYLT1 ZMPSTE24 IGF1R PRKAR1A IFT122 GNAS POLR3A HDAC8 PALB2 THOC6 PDE6D ASAH1 HOXA13 ABCC9 RNU4ATAC DHCR7 NSDHL PRDM5 SMARCAD1 MGP SC5D STXBP1 CEP152 TCTN3 GLI3 EIF2AK3 SMARCD1 COL6A2 KRAS CCDC28B SLCO2A1 PIGL CPLANE1 B3GALT6 AMER1 B3GLCT SALL1 HCFC1 PRDM16 FLNB MEF2C WASF1 KIAA0825 LMNA GMNN HARS1 IFT52 HOXD13 BHLHA9 MFN2 TXNL4A DCAF8 RREB1 TWIST2 GJB6 BMP2 SLC39A8 COL12A1 WWOX SCN2A MKKS TMEM216 EOGT RSPRY1 RAB7A TMCO1 DCPS ALG12 ACTB TRMT10A NXN LIG4 SLC12A6 TBX15 IFT57 SMARCB1 CLCF1 ALOXE3 PSMD12 KCNJ2 FANCD2 CNKSR2 AEBP1 ADA IL11RA GCH1 BAZ1B PIGO SMOC1 TBX4 RBBP8 GP1BB NONO ERCC1 FLNA RAD51 PTCHD1 ACSL4 CERT1 ATN1 ALG3 VCP EXT2 SMC3 CHCHD10 HYLS1 ATRIP IRX5 CRKL SF3B4 MPV17 PIGV HRAS ERF TAF6 ITGB4 ALG13 PIK3CA TBX22 CENPJ RAD51C PUF60 SLC35A3 PAK3 CDC42 TBX1 TBL1XR1 TBC1D24 CHD7 CD96 NECTIN4 FLII SETD5 FRMPD4 PNKP BMP4 IL2RG CHP1 BBS1 SACS COL6A3 ARL6IP6 CTCF FBN1 PDXK DMD WDR34 CANT1 GABRD GDF5 TPM2 AHI1 BPTF ZSWIM6 KIF7 CUL4B HSPG2 PIGG SCN1B TBX3 B4GALT7 PLAA ZNF81 SLC16A2 BMS1 SMS CCDC47 TMEM231 LIMK1 GJA5 FANCL DDX59 MAP3K7 SLC6A9 ARL6 PEX7 ELN LRSAM1 CTSK COL1A2 CEP55 PORCN ELANE ATP6V1B2 RAB39B CHRNG FGFRL1 GDF6 DYRK1A RHOA SOX11 SMARCD2 EVC TELO2 IFT172 TRIP12 FIBP IL1RAPL1 SLC25A22 SMARCA2 PITX1 MMP2 USP7 DOCK6 FLI1 FRAS1 FAM20C C2CD3 MCTP2 LARS1 ARVCF MID2 MAPK1 HBA1 MYH8 SKI RBPJ ATL3 TSPAN7 WNT7A UBE2T SMC1A HNRNPK STAG1 XYLT2 TMEM237 DLEC1 TTC21B RFC2 ERCC4 DMXL2 CCNQ BSCL2 RAB3GAP2 ACAN PLEKHG5 GPX4 IRF6 MYCN JMJD1C INF2 CEP120 WNK1 ACVR1 TTI2 GHR CDKL5 BRCA2 NELFA SYT1 NEK9 NSUN2 RAB11B BRCA1 FGF9 CSPP1 DLX5 SOX4 ZNF711 B3GAT3 RNF6 ARID1A GDI1 CPT2 EFNB1 SATB2 TFAP2B USP9X HDAC4 SEC24C CCDC22 NEUROD2 PYCR2 TMEM107 MEIS2 RAG1 MTM1 LIFR FANCE SHANK3 PHGDH AARS1 SMARCC2 RFWD3 FTSJ1 CIBAR1 SLC26A2 UPF3B SCN9A WIPI2 FBLN1 NIPBL GNE SLC29A3 NOD2 CHST11 WDR60 PIEZO2 CXorf56 INTS1 SCARF2 UBE2A FANCF ADNP SHOX IFT140 PTHLH ADAMTS2 PHF8 RIPK4 TCF12 FIG4 CASK RHBDF2 FANCG ZNF469 RERE YY1 ASXL1 IL7R KIAA0556 MLXIPL KIAA0753 COL3A1 FREM2 NUP107 FANCI RPGRIP1L APC SPECC1L PCNT ABCA12 SMARCA4 TRIM8 MECP2 NPHP3 FGF10 DVL3 ZNF423 DPF2 CENPE LBR NOTCH2 DYNC2H1 DACT1 CHST3 WNT10B FAM149B1 NEFL EIF4A3 GTF2I BMPER LRP4 USP27X PPP1R15B KCNN3 B9D2 BMPR1A KIF1A DNMT3A TMEM260 AGTR2 GLI1 HERC2 KCNJ8 ARCN1 NSD1 SHH NKX2-6 GDAP1 DLG3 FANCC KIF1B SIK1 TBL2 SIK3 PLEC ERMARD SUZ12 SYT2 VAC14 FHL1 KCTD1 PTH1R PRX GATA6 SMAD4 MAN1B1 EED HBA2 ALOX12B HP_BROAD_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METATARSAL ABCC9 MMP2 FBN1 RAB33B NPR2 FGFR1 FGFR2 PDE4D CANT1 ADAMTS10 NEK1 HP_ABNORMAL_DELIVERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELIVERY FGA RSPH1 SYCP3 SPAG1 FOXJ1 MGP NEB MCIDAS XIST ENG JAK2 SERPINC1 GAS2L2 ZMPSTE24 KLHL41 DNAH1 CCDC151 ALB DNM2 FGB DNAL1 F2 KBTBD13 TPM3 COL1A2 DHCR7 F5 CFAP221 THPO DNAAF1 GP1BA LMOD3 RPGR RSPH9 STK36 PLOD1 DNAH9 KLHL40 MYPN MYF6 OFD1 RSPH4A ANXA5 ATP6V0A2 DNAH5 CYP11B2 NME8 GAS8 TTC12 HOXA13 CCDC65 ADAMTS2 CFAP298 CFAP300 RYR1 ORC1 ITGA2 DNAI1 DNAJB13 SPEF2 CCDC40 MKS1 ACTA1 ZMYND10 MTMR14 ITGA2B ITGB3 CYP11A1 COL5A1 WRN OPA1 CCDC39 ARMC4 GP1BB TTC25 MYH3 DNAAF2 POLR3A DNAI2 TPM2 DRC1 NEK10 SLC26A2 BIN1 RSPH3 LRRC6 DNAAF5 CCNO GPHN TAF1 LMNA HYDIN DNAAF6 MPL CCDC114 CD109 CCDC103 LRRC56 CYP11B1 DNAAF4 CRTAP SERPINH1 CACNA1D HTR1A F8 SHPK COL1A1 F13A1 PEX1 DNAAF3 FGG F13B DNAH11 HP_PREMATURE_RUPTURE_OF_MEMBRANES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_RUPTURE_OF_MEMBRANES SERPINH1 ATP6V0A2 PLOD1 COL5A1 ZMPSTE24 ADAMTS2 LMNA HP_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROPS_FETALIS PKLR KIAA0586 NEK9 FIG4 SLC17A5 GRIP1 COL11A1 FLNB AHCY WNT7A IFT80 COL1A1 WDR60 FASLG SOX18 DYNC2H1 HBA1 WDR35 HADHB CASP10 AGGF1 GUSB FAS PIEZO1 SLC26A2 NEK1 PIGA CCBE1 RASGRP1 VAC14 TRIP11 GBE1 HADHA SPTA1 EPB41 CDAN1 UROS GBA ALPK3 CALCRL COL1A2 EPHB4 NEU1 SPTB PTH1R ADAMTS3 RYR1 CARS2 TAPT1 COL2A1 KLF1 HBA2 GYPC CTSA PRKCD ALG1 PMM2 TALDO1 PLD1 BSND WDR34 FAT4 FLT4 GATA1 ASAH1 LBR HP_NONIMMUNE_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONIMMUNE_HYDROPS_FETALIS CARS2 SOX18 UROS CTSA PIEZO1 ALG1 PKLR PMM2 CALCRL COL1A2 EPHB4 FLT4 GATA1 COL1A1 GBA LBR HP_SMALL_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_NAIL PLEC PPM1D SLC35D1 SHANK3 PIGY ATP6V1B2 LIMK1 RFC2 PPP1CB ARID1A SMARCC2 C15orf41 ARHGAP31 INPPL1 GPC4 MSX1 LIG4 TP63 AFF4 ARID1B GTF2I PPP2R5D ALG3 HEPHL1 BMPER DPF2 GPC3 SMARCD1 HRAS ELN RPS6KA3 KCNN3 KIF15 CLIP2 DYNC2LI1 NSD1 KCNH1 EZH2 PIGV SHOC2 PIGO DPH1 NHP2 COL11A2 NOTCH1 SOX11 RLIM PIGL GLI1 EVC HOXA13 TELO2 NSUN2 TBX3 FGFR1 TRRAP KDM1A DNAJC21 EOGT RIPK4 POP1 NECTIN4 CDH1 POC1A OFD1 WASHC5 COL11A1 TFAP2A SHOX ROR2 CCDC22 SOX4 SMARCAD1 DOCK6 GJB2 SLC25A24 DLL4 SMARCE1 MLXIPL SMARCB1 TBL2 ALOXE3 EED PLAGL1 SUZ12 DHX37 PIGW TCTN3 MCTP2 RSPO1 PIGN CPT2 MBTPS2 PIGA CKAP2L RERE IKBKG NOP10 PTDSS1 RBPJ GJB6 ARID2 BAZ1B EVC2 IHH CWC27 WNT10A SMARCA4 MPLKIP FGFR2 HYMAI TBX4 STAMBP FTO ACTL6B ERCC2 BHLHA9 ADAMTSL2 LMX1B PGAP3 GTF2IRD1 POLR3A PGAP2 WDR73 GDF5 ALOX12B LBR HP_HYPERCONVEX_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_NAIL PLEC ECE1 FGFRL1 SETBP1 TP63 GJB6 ARX PTDSS1 CTBP1 RNU4ATAC CPLX1 NSD2 RPS6KA3 POMP PIGV MBTPS2 LETM1 ORC1 HP_ANONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANONYCHIA CASK ITGB4 KCNH1 ROR2 TBC1D24 ATP6V1B2 KRT17 PIGQ PNKP DMXL2 ARID1A PLEC DOCK6 STXBP1 ARHGAP31 SLC25A24 KRT16 ARID1B EOGT SIK1 WNT7A LAMA3 ZBTB20 LRP4 COL7A1 KCNA1 LAMC2 KCNN3 ITGA6 CDKL5 DLL4 CRKL LMX1B APC PORCN MAPK1 RIPK4 ACTG2 PIGP GRHL2 COL17A1 NOG RBPJ GPC4 COL2A1 JUP NEUROD2 WNT10A NOTCH1 DSP MMP1 BCR TRIM8 LAMB3 KRT6B RSPO4 TP63 ARX GNAO1 KRT6A SCN2A SCN1B SLC25A22 LBR HP_SHORT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NAIL ZMPSTE24 FLNB NPR2 B3GALT6 ATP6V0A2 IFT43 IFT122 LMNA NOTCH2 HP_HYPOPLASTIC_TOENAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_TOENAILS SLC35D1 SHANK3 ATP6V1B2 SOX4 LIMK1 RFC2 PPP1CB SMARCC2 GJB2 COL11A1 INPPL1 DLL4 MSX1 LIG4 SMARCE1 AFF4 GTF2I PPP2R5D SMARCB1 TBL2 ARID1A DPF2 SMARCD1 HRAS SUZ12 ELN TCTN3 SOX11 CPT2 CLIP2 KDM1A DYNC2LI1 EZH2 SHOC2 ARID2 BAZ1B EVC2 DPH1 GJB6 SMARCA4 EVC TBX4 GLI1 HOXA13 TELO2 NSUN2 TBX3 LMX1B FGFR1 GTF2IRD1 EOGT EED RIPK4 NSD1 NECTIN4 ARID1B HP_ABSENT_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOENAIL LRP4 KCNH1 ATP6V1B2 COL7A1 ARID1A GPC4 CRKL APC PORCN MMP1 BCR MAPK1 WNT7A LBR HP_NAIL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_PITS MSX1 TP63 FOXN1 HLA-C TINF2 TERC LPAR6 IKBKG TERT HP_HYPOPLASTIC_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FINGERNAIL PLEC COL11A1 TFAP2A SHOX KCNH1 ROR2 PTDSS1 CCDC22 SOX4 RBPJ ARID2 DOCK6 SMARCC2 COL11A2 GJB6 GJB2 SMARCA4 ARHGAP31 MSX1 NOTCH1 SOX11 ARID1B EOGT HYMAI SMARCB1 BMPER ARID1A PLAGL1 SMARCD1 RPS6KA3 KCNN3 SMARCE1 PIGN MBTPS2 DLL4 DPF2 IKBKG ATP6V1B2 LBR WASHC5 HP_ONYCHOGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS FZD6 FZD2 ADAM17 KRT17 PLEC KRT6A KRT16 KRT5 WNT5A IKBKG INSR TP63 DVL3 ZSWIM6 GJB6 KRT6B DVL1 KRT14 SLURP1 LORICRIN CTSC HP_ONYCHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOLYSIS FZD6 CDSN GJB6 CAST HFE LAMB3 UROD HLA-C ITGA3 WNT10A IFIH1 KRT74 LAMA3 KRT85 JUP LAMC2 DSG1 HP_RIDGED_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_NAIL MSX1 EFNB1 FOXN1 ERCC3 TARS1 MPLKIP ATR CTSK WNT10A IKBKG TERT DKC1 TINF2 LMX1B ATP2A2 ERCC2 KRT14 TERC FERMT1 LPAR6 GTF2E2 GTF2H5 RNF113A SLC39A4 KRT5 HP_FRAGILE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_NAILS EFNB1 AP1B1 LAMC2 ERCC3 TARS1 MPLKIP ITGB4 TRPS1 LAMA3 GJA1 DLX3 MSX1 HEPHL1 SMARCD2 GJB6 PRKD1 FTL ERCC2 SLURP1 COL17A1 ATP6V0A2 LMNA KRT14 DSP HRAS GTF2E2 GTF2H5 RNF113A CAMK2G LAMB3 HP_SPLIT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_NAIL ERCC2 EFNB1 ERCC3 DKC1 TARS1 MPLKIP GTF2E2 GTF2H5 RNF113A HP_DYSTROPHIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_TOENAIL NECTIN1 TP63 COL7A1 ITGB4 NOTCH1 KLHL24 SCN9A RUNX2 KRT14 WNK1 GJB6 GJB2 RAB7A WNT10A KRT74 SMARCE1 COL17A1 KIF1A IKBKG RETREG1 HP_HYPERCONVEX_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_FINGERNAILS PLEC FGFRL1 TP63 PTDSS1 CTBP1 LETM1 CPLX1 NSD2 RPS6KA3 MBTPS2 HP_DEEP_SET_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_SET_NAILS HRAS EED SUZ12 EZH2 NSD1 HP_THIN_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_NAIL FZD6 ALOXE3 EED ZMPSTE24 SUZ12 EZH2 IFT122 MBTPS2 LMNA WNT10A TRPS1 MSX1 HRAS NSD1 ALOX12B HP_ABSENT_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FINGERNAIL CASK KCNH1 ATP6V1B2 PIGQ NOG PNKP RBPJ DMXL2 ARID1A DOCK6 NEUROD2 STXBP1 ARHGAP31 NOTCH1 EOGT MMP1 BCR TRIM8 SIK1 LRP4 KCNA1 KCNN3 ARX GNAO1 SCN2A CDKL5 DLL4 SCN1B COL7A1 CRKL TBC1D24 APC PORCN MAPK1 SLC25A22 PIGP HP_PARONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARONYCHIA STAT3 ADAM17 LAMB3 LAMA3 WNK1 SLC39A4 KIF1A LAMC2 RETREG1 SCN9A HP_LEUKONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKONYCHIA PEX6 CAST TRPS1 GJB2 KIF11 PEX1 GJA1 PLCD1 DSP KANK2 ABCA12 HP_BROAD_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NAIL IL17F TRAF3IP2 IL17RC IHH FHL1 CLEC7A IKBKG IFT43 IL17RA HP_WEIGHT_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEIGHT_LOSS FANCE NALCN CBL DNAJC13 HTT TTR PDX1 COL6A2 BIRC3 ABCC8 NAB2 JAK2 SDHB CEP152 SDHAF2 GBA FANCL VHL PTEN STAT5B RFWD3 PMS2 POLG EPCAM NF1 TP53 SCNN1A MEFV IL12A-AS1 SLC11A1 CTLA4 KCNJ11 ATRX MLX BRIP1 GPR35 THPO STAT3 PML TYMP RRM2B HLCS HSPG2 CCR1 MALT1 SDHD GPC3 MLH3 MSH2 CCND1 KLRC4 KCNJ18 SDHC FH JPH3 FANCF TSHR GIGYF2 PALLD HLA-B TCF4 CDKN2A RUNX1 EDN3 BCOR BRCA2 ERCC3 NOD2 HLA-DRB1 KRT1 PRNP GJA1 BCL10 IRF2BP2 MRAP BCL6 SUCLA2 RHBDF2 FANCG B2M BCL2 ZBTB16 SNCA SLX4 PALB2 KIF1B HLA-DQA1 TGFBR2 KRAS SDHA SMAD4 INS FANCI POU6F2 UNC80 DAXX C4A IKZF1 CNTNAP1 ATM LIPA UBAC2 FANCD2 NUMA1 COL6A1 LRP12 FANCA RARA RB1 MST1 SLC39A4 EPAS1 PTPN22 SEMA4A KRT10 TRPV4 PCNT F5 SLC25A11 EWSR1 XRCC2 TRIM28 GALC NDP VPS35 MPL AK2 FIP1L1 ASXL1 CDC73 WT1 TXNRD2 SEMA3D HLA-DPB1 UBE2T HLA-DPA1 ERCC4 TLR4 NPM1 SCNN1B ACAT1 PIK3CA GDNF FAN1 FANCB PLA2G6 FAS HLA-DQB1 CENPE RAD51 STAR ERCC5 CHEK2 IL12A RET LPIN2 FANCM SLC6A8 SDHAF1 CRLF1 DLST REST PANK2 SLC9A6 PRKAR1A LRRK2 EDNRB BMPR1A FLI1 CACNA1S TET2 MC2R ATP7B GNPTAB NABP1 ATRIP IL10 IFNGR1 IL12B GCK SCNN1G STAT4 RNF168 ZFP57 COL6A3 IL23R COL12A1 DIS3L2 ERAP1 FOXP1 STAT6 CALR VPS13A MAFB CENPJ BRCA1 TRIP13 NNT RAD51C AKT1 COL5A1 BTNL2 TBL1XR1 GJB4 MSH6 PMS1 ERCC2 GJB3 NOS1 TMEM127 ACADM GATA2 CYP24A1 LMNA PRTN3 MLH1 MDH2 SRSF2 DNMT3A DCTN1 HMGCL MAD2L2 FANCC COL1A1 PLK4 GATA4 ECE1 AVP FOXP3 TRIM37 PLAGL1 HMBS RBBP8 KDSR SEMA3C PIK3R1 MAX RPS20 GALT COL5A2 NRTN H19 CFTR ATR TRAIP PSAP CDH23 EIF2AK3 MECP2 BTK HYMAI IL6 EIF4G1 CUL4B NBN TGFB1 HAVCR2 GABRA3 HP_POSTAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_FOOT_POLYDACTYLY DYNC2LI1 DYNC2H1 TCTN2 RPGRIP1 DHCR7 TMEM231 BMP4 BBS2 SMOC1 SC5D GLI3 DDX59 C2CD3 CIBAR1 RPGRIP1L CEP290 SETD5 EXTL3 NEK1 WDR34 LMBR1 CEP55 B9D2 WDPCP HOXD13 EVC B9D1 KIAA0825 MKS1 WDR60 CC2D2A TMEM67 WDR19 KIF7 TMEM107 NPHP3 IFT140 IFT172 EVC2 MKKS IFT80 TMEM216 CD96 PLAA CSPP1 CEP120 LBR TTC21B HP_SHORT_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_TOE ABCC9 NOTCH2 FGFR1 CTBP1 RNU4ATAC PHF6 MGP ACVR1 TRPV4 GPC4 GDF5 FGFR2 MAP3K7 C12orf57 GPC3 NSD2 CTSK DHCR7 PDE4D GPX4 HOXD13 RAG2 B3GLCT RMRP MYCN FGFR3 FGFRL1 BPNT2 SF3B4 BMPR1B NOG NPR2 KMT2A CHST11 PIGV WASF1 BMP2 SALL4 COL2A1 DNMT3A BHLHA9 TBX22 GHR FLNA GJA1 PUF60 NELFA HOXA13 SHOX CPLX1 KCNJ8 ADAMTS2 EOGT TBL1XR1 CHD7 RAB3GAP2 FIG4 LIG4 IL2RG KCNH1 PRKAR1A IHH ASXL1 IL7R FLI1 GRIP1 LETM1 ALOXE3 CHSY1 VAC14 HBA1 PTH1R ADA SPECC1L TNNT3 OFD1 SOX9 SMAD4 DCLRE1C IFT122 GNAS TBX3 RAG1 ASAH1 HBA2 ALOX12B HP_ABNORMAL_METATARSAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METATARSAL_MORPHOLOGY ABCC9 CTBP1 GLI3 RIPK4 CHST3 INPP5K FLNB SIL1 ACVR1 ADAMTS10 FBN2 LIG4 HOXD13 PTEN GNAS TCF4 DHCR24 LARGE1 NSD2 GDF5 GUSB FGFR2 DHCR7 PDE4D FKRP TP63 PORCN ZBTB20 SLC26A2 B3GALT6 FBLN1 COG4 B3GLCT COL4A1 TUBB3 SALL1 CRPPA FGFRL1 TWIST1 PHYH LRP5 NPR2 POMGNT2 HSPG2 IFT52 COL2A1 MAFB PEX5 ERCC6 TRPV4 FGFR1 FLNA VPS13B AKT1 TRPS1 RXYLT1 HOXA13 SRY UBE3B SHOX CPLX1 NSUN2 WDR26 PTHLH DCHS1 DDR2 IFIH1 RSPRY1 CHSY1 LMBR1 RAB3GAP2 FIG4 FGF9 ATRX EZH2 POC1A DYM SMARCA2 SLC35A2 MMP2 POMK MAP3K7 TNNI2 RAB33B PIEZO2 B3GAT3 PEX2 PRKAR1A NEK1 HINT1 DAG1 WNT7A RBPJ FBN1 KCNJ2 TGDS POMGNT1 PEX7 CANT1 POMT2 B4GAT1 VAC14 PRG4 PRMT7 MYH8 PIGS IHH FKTN RAB23 FIBP B3GALNT2 TNNT3 BMPR1B FAT4 SKI POMT1 PEX1 LETM1 SH3PXD2B HP_LONG_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FOOT NSD1 INSR PDGFRB FLNA GPR101 ASNS UPF3B FIBP BSCL2 MEN1 PACS1 EED SUZ12 HERC1 UBE3B AIP RPS6KA3 POLR3A SETD2 AGPAT2 RNU4ATAC PIGL HP_CAMPTODACTYLY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAMPTODACTYLY_OF_TOE PIEZO2 FGFR3 MMP2 PHF6 FLNA FHL1 GLI3 PPP2R5D SCARF2 CHRNG HP_BROAD_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_TOE ABCC9 FGFR3 NKX2-6 DLX5 TBX1 KCNH1 GJA5 NKX2-5 MED12 NEK1 FGFR2 WDPCP GPC4 PPP2R1A KIAA0753 DVL1 FLNA C2CD3 ROR2 EP300 GJA8 ACAN PDE4D NAA10 TWIST1 PIGL FGFR1 HOXD13 GLI3 EFNB1 SF3B4 GDF5 CHST11 BMP2 SUMF1 GATA6 TBCK TAF6 TNNT3 CCDC22 BMPR1B BPTF RHOA NPR2 PYCR2 PIGO UBE2A EBP ADNP WNT5A CREBBP NOG FGF10 IFT122 DVL3 GPC3 MEIS2 FGF9 PUF60 HP_SPLIT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_FOOT TP63 PORCN DLX5 GLI3 WNT10B FGFR2 HP_METATARSUS_ADDUCTUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_ADDUCTUS FGFRL1 TNNI2 CTBP1 RAB23 GLI3 CHST3 PIEZO2 B3GAT3 PEX2 FIBP TNNT3 PEX5 TRPV4 FBN2 LIG4 SKI DHCR24 UBE3B CPLX1 NSD2 NSUN2 WDR26 GUSB DHCR7 DDR2 PEX1 VAC14 LETM1 RAB3GAP2 ZBTB20 SLC26A2 B3GALT6 FIG4 ATRX SH3PXD2B TUBB3 EZH2 MYH8 SLC35A2 HP_PREAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_FOOT_POLYDACTYLY FGFRL1 CTBP1 RAB23 CPLX1 NSD2 FGFR2 GLI3 NEK1 LMBR1 LETM1 CPLANE1 MEGF8 ZSWIM6 HOXD13 KIF7 HP_FOOT_ACROOSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_ACROOSTEOLYSIS ZMPSTE24 LMNA SCN9A WNK1 KIF1A NOTCH2 RETREG1 COL3A1 HP_ABNORMALITY_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HALLUX ABCC9 TWIST1 CTBP1 GLI3 PRDM5 LIMK1 GJA5 MGP GPC4 WDPCP PTEN GDF5 MAP3K7 ELN FGFR2 COL1A2 CPLANE1 B3GALT6 HOXD13 ATP6V1B2 GNE SLC29A3 FGFR3 FGFRL1 KCNH1 BMP2 CHST11 SALL4 DYRK1A BHLHA9 MFN2 FGFR1 FLNA RHOA SCARF2 AEBP1 HOXA13 UBE2A ADNP ROR2 PTHLH EP300 GJA1 FIBP TCF12 FIG4 ACTB NXN USP7 ZNF469 YY1 IHH FLI1 NEK1 MLXIPL KIAA0753 FAM20C SALL1 C2CD3 LETM1 NUP107 TBR1 RAB23 NAA10 IL11RA ATL3 GCH1 BAZ1B MYH3 TNNT3 PIGO EBP TP63 RBBP8 FGF10 NONO GTF2IRD1 MEGF8 DACT1 TBX1 RFC2 ACVR1 NKX2-5 GTF2I ACAN SUMF1 NSD2 KCNN3 HYLS1 PDE4D LMBR1 CLIP2 SF3B4 NPR2 ERF TAF6 CDKL5 PUF60 AKT1 SMS NELFA SRY CPLX1 CREBBP KCNJ8 HSPB1 FGF9 NKX2-6 DLX5 PPP2R1A GATA4 HSPB8 TBL2 CTCF ERMARD GJA8 CHSY1 PRKAR1A EFNB1 CANT1 VAC14 MED12 FHL1 SATB2 NOG USP9X GATA6 SOX5 CCDC22 BMPR1B BPTF ZSWIM6 KIF7 PYCR2 IFT122 MEIS2 SLC16A2 HP_OVERLAPPING_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_TOE OTUD6B RSPRY1 SF3B4 EBP GDF6 CCDC47 ATN1 CDC42 USP9X SOX5 ASXL1 PIEZO2 TMEM260 CCDC22 PCGF2 TPM2 EXT2 BPTF INTS1 RAB3GAP1 SMAD4 SLC6A9 ARX RAB3GAP2 TELO2 NEK9 TMEM94 DHCR7 KIAA1109 RAB11B HNRNPK CPLX1 WIPI2 TMCO1 ELANE THOC6 HUWE1 MED25 PUF60 GLI3 SETBP1 EZH2 UBE2A HP_LONG_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_HALLUX NPR2 FAM20C KCNH1 GNE SOX5 PRKAR1A FIBP FLI1 SCARF2 SMS HP_FOOT_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_OLIGODACTYLY LRP4 SF3B4 DLX5 SMOC1 GLI3 WNT10B DLL4 APC PORCN WNT7A HP_ABNORMALITY_OF_THE_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TARSAL_BONES CCDC8 SLC35D1 GLE1 RBM10 GLI3 BMPR1B PHEX MYH3 PHGDH FLNB MYBPC1 ADAT3 INPPL1 TBX4 EIF2AK3 NGLY1 ZMPSTE24 FGFR2 NALCN FGFR3 PSAT1 TNNI2 NUP188 ARID1B MUSK HADHA TPM2 MMP2 POR GPX4 FBLN1 SAMD9 ECEL1 KIF14 CHRNG MMP14 GDF6 PLAA MAFB COL11A2 ERCC6 GDF5 FGFR1 FLNA COL2A1 AEBP1 PUF60 ATP7A PTH1R EMG1 SYT1 TELO2 HDAC6 COL1A2 MKKS LMNA LMBR1 RSPRY1 ADAMTSL1 CHSY1 SCYL2 FIG4 CLTCL1 MATN3 EZH2 DYM ATP6AP2 NOG OBSL1 TNNT3 CUL7 MAP3K7 HOXA13 WRN ERCC2 WNT7A CANT1 VAC14 SLC2A10 OFD1 MAGEL2 ERCC5 SMOC1 HADHB EBP HOXD10 PEX1 ERCC1 NUP88 MAF LBR HP_SANDAL_GAP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SANDAL_GAP CUL4B NXN CHST3 MBD5 B3GAT3 IFT43 SMOC1 YY1 CEP152 ESCO2 NBAS LIG4 PLK4 SMARCE1 IFT57 TBX4 FLNA VPS13B CTCF RBBP8 SLC26A2 SUZ12 EFNB1 PIEZO2 CANT1 ATRIP CRKL ATR MAPK1 SALL4 FBXO11 FLNB CILK1 RAI1 COX7B EZH2 TRAIP PCNT GMNN IFT52 TNNT3 PIK3CA CENPJ IGF1R BPTF RHOA DSP SIN3A SMARCA2 BCR AEBP1 SMARCD2 HERC2 ADNP NSUN2 ROR2 BMP2 LTBP4 COL1A2 TRIP12 EED DCPS MEIS2 ALG12 NSD1 CENPE LBR HP_BIFID_DISTAL_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_DISTAL_PHALANX_OF_TOE ROR2 DVL3 PPP2R3C WNT5A DVL1 HP_SHORT_DISTAL_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_DISTAL_PHALANX_OF_TOE TRPV4 VAC14 NOG FIG4 KCNH1 HP_TOE_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_CLINODACTYLY PTCHD1 ACSL4 FRMPD4 DACT1 ZNF711 PIGH CLCN4 FLNA FLI1 DLG3 SYP ALG3 FTSJ1 RNF6 SALL1 USP27X GDI1 KCNJ2 DMD UPF3B SLC9A7 CNKSR2 RPS6KA3 MID2 CKAP2L SATB2 RAB39B HCFC1 ARHGEF6 XYLT1 ALG13 CXorf56 AGTR2 TSPAN7 SIN3A IQSEC2 MECP2 PAK3 USP9X TGFBR2 WWOX ARX COG8 MED12 RSPRY1 ZNF41 IL1RAPL1 ZNF81 DLEC1 HP_CLINODACTYLY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_5TH_TOE CKAP2L TGFBR2 KCNJ2 PIGH ALG3 WWOX SALL1 RNF6 DLEC1 HP_DEEP_PLANTAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PLANTAR_CREASES EP300 KCNH1 KCNN3 ATP6V0A2 CREBBP KCNJ8 PIGN GPR101 ASXL1 HNRNPK ERCC6 TBL1XR1 ABCC9 MTOR SIN3A HRAS AIP ATP6V1B2 HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES KRT14 BAP1 SMARCAL1 PRSS1 KCNJ1 TCIRG1 NHEJ1 MTAP RAG1 AMMECR1 ARHGAP31 MVK PTH1R RNASEH2C EPCAM NF1 CASP10 ASAH1 FLI1 NDUFS7 GPR35 DYNC2LI1 RAG2 STAT3 HBD MPL TERT DMD GLA LAT CCR1 PIEZO1 RHAG TTC7A HAX1 IREB2 VPS13A F5 FAM111A MPIG6B CALR FHL2 INS GBA ICOS CFI ALAS2 GSR XRCC4 KIT HPS4 BCL2 MRAS SLX4 GP1BA DHFR LACC1 OCLN CASK JAK2 TREX1 SLC19A2 SERAC1 BUB3 LIPA KRT5 ATRX SCARB2 F13A1 AK1 FANCI TNNT2 CFTR LYST CHIC2 NDUFV1 NBAS DOCK2 SLC25A11 F11 EVC2 TEK MDM2 MMP1 IGHM COL5A2 MTTP WAS SDHA SRD5A3 SRP54 TNNI3 CLPB UFD1 NUP214 CTC1 RFXANK TBCE SDHD SEC61A1 C2 LPIN2 CD3D GPC1 FANCE PIK3R1 WIPF1 DLST COX6B1 MTR LMBRD1 HBB COX14 ATP7B EP300 DLL4 FGB CAPN5 ANKRD11 EXTL3 TAF1A VWF HLA-DRB1 IL23R FANCL ERCC3 LBR FOXP1 SMAD4 GSS CFH F2 ATP6V0A2 USP8 DNMT3B CAP2 LEP ADAR IL10 IFIH1 FBN1 CRIPT DOLK MSH6 CFHR1 CREBBP SH2B3 PRKAR1A DNAJC21 STK11 BCR RPS29 IGLL1 IRAK1 EPOR UNC93B1 MT-ND6 DNMT3A FANCG LEPR HMGCL BMPR1A MAD2L2 RPL35 RPS17 FOXP3 RTEL1 APC LARS2 VPS13B RAF1 PRDX1 PRLR PEX13 ALPL MTFMT TERC TGFBR2 CD244 ERMARD RFWD3 AK2 MAGT1 BLM NDUFAF3 RPL31 RIT1 RPL15 SLC4A1 ACAD9 TCF4 CLDN1 ADA CYB5R3 BCL11B MMUT PTPN22 MTRR GP6 PRKCD KIF1B BRCA2 PALB2 CST3 NLRP12 ABCC8 PRDM5 ACSL4 VHL SC5D SDHB PMS2 PIGM A2ML1 POLG ABCC6 TACO1 TGFB3 RARA MT-TF PIGL PDCD10 C4A SPATA5 PIGT TP53 HBG1 PLOD1 HLCS HYOU1 TNFRSF11A UROS ORAI1 GDNF RREB1 IFT140 CAD SDHC RUNX1 STT3B HOXA11 AKR1D1 SMPD1 RFT1 RPS10 HBA1 PRDM16 ABCG8 ALG12 GATA1 TCN2 USP18 MSH2 HTRA2 PEX19 ITGA2 ZBTB16 CTPS1 COA8 TMTC3 HELLS MAN2B1 RPS7 RASGRP1 FLT1 RECQL4 SP110 HLA-B APP FAS TPI1 MMACHC TMEM165 SLFN14 AEBP1 MTHFD1 SEMA4A TCF3 TRAF3 ASXL1 SAMD9L TRAF7 ATP7A CBFB F8 UBR1 PFKM GP1BB NEDD4L CYP4F22 CYP7B1 PIK3CA SBDS SLC12A3 GNB1 GFI1 REN RAD51 GALT TAZ PEX11B PCNT PSMB9 COL3A1 SLC17A5 C3 LIG4 NFKB1 TET2 MFAP5 SLC2A1 EPG5 LAMC2 NDUFV2 XIAP PSEN2 RAC2 CLCNKB MS4A1 LOX NUTM1 ETV6 ITGB3 SPARC SCN5A STAT4 MMADHC GFI1B UQCRFS1 STXBP2 CBS ITGB4 DKC1 PLAT COL4A1 ADAMTS3 RAD51C CDH23 SCN9A ENG SH2D1A HBA2 CDC42 TBX1 MLH1 ITGA2B IL7R LZTR1 APPL1 COL14A1 GGCX IL2RG KIF11 PHKG2 DDOST TINF2 MGAT2 PARN IDH2 PIK3CD GPI SERPINF2 HELLPAR FASLG CCND1 CYCS KLF1 PHKA2 RNASEH2A PDE11A ETHE1 SLC25A38 NPHP4 CLCN7 SMARCE1 CD46 RRAS MAT2A CACNA1D BUB1B APOB RPL11 FAT4 KDM6A CFHR3 EFL1 NHP2 EPAS1 ARHGEF1 NDUFS1 LIPT1 PDX1 PSEN1 CPOX RPS28 CD79A A4GALT SERPINE1 NOTCH3 CYSLTR2 NDUFS8 SH3GL1 CTSK COL1A2 DPM2 ATR ELANE PRSS2 GNAQ ADA2 EPB41 FUT8 DTNBP1 NRAS SAA1 HADH DNM2 PLG SMARCD2 VKORC1 PHGDH SPINK1 TNFSF11 TNFRSF13B MT-TQ PROS1 XYLT2 NLRP3 AGK FLT3 CYBC1 LMAN1 CA2 MYD88 B2M DOCK6 MYSM1 SFXN4 HAVCR2 FANCF NBEAL2 F9 CORIN AGGF1 NOD2 NUMA1 C1R BAX SPINK5 TMPO FANCB XPR1 ABHD5 FIBP SCN10A TNFAIP3 SPP1 GATA2 CBL ARMC5 CXCR4 HLA-DPB1 RFXAP CSF3R CLN3 ANK1 CARD11 ADAMTS2 SOS2 MT-TH NAGS BCL10 PEX14 GNA11 IL12A PRF1 ERCC4 FCGR2B HAND2 MMAA SGPL1 B4GALT1 SMAD3 STEAP3 STN1 GCDH NDUFA12 EPO ALAD LMNA NABP1 NLRP1 MTOR RPS14 KCNJ11 SLC25A15 FUCA1 SKIV2L COA3 G6PC FERMT3 RPS27 GNAS ENPP1 NEUROD1 P2RY12 UMPS ZBTB24 STXBP1 CD151 MT-CO1 CTRC TBL1XR1 NSUN2 COL7A1 ITCH CD3E BRCA1 PRTN3 TMPRSS6 CISD2 DPM1 CYBB SLC35A1 HMCN1 FECH TARS1 COX15 PLVAP F10 FKBP14 AHCY COL5A1 WDR19 LCAT GATA6 ACAD8 NBN BEST1 ABCB6 BUB1 PSMB4 CIITA MT-CO2 RET STOX1 COX20 RAB27A LCK HPRT1 TAL2 NT5C3A TRMU CYP11B1 DSG2 HAMP SAR1B LAMB3 EGLN1 PEX2 NPHP1 STAT1 RASA1 OPA1 NFKBIL1 KCNE1 SCO1 NDUFAF6 RPS24 SPTB SLC46A1 PGM1 G6PC3 RANBP2 NOP10 MPI SEC63 RBM8A CD19 TCAP TBXAS1 PET100 SAMD9 PTEN COG4 CPA1 GCNT2 PML SLC29A3 LPP TXNRD2 COG8 ADAM17 RASGRP2 PANK2 RPL26 SLC27A4 CEBPA BLK RAD54B TGFB2 CYB5A VCL DOCK8 ATOH7 ERF PGK1 PLEC MYORG BCL6 MCM4 TRAC NIPBL ZNF469 SLC2A10 FCGR2C ALDOB NDUFAF5 TUBB1 RPL27 TNFRSF1A HBG2 ACP5 ZAP70 SLC39A13 MYH7 RPS15A SPTA1 TFR2 KRIT1 EWSR1 SNX10 PNPO MT-TN NOTCH1 TSC2 MRPS7 MECOM FAN1 FMO3 SAMHD1 VPS33A SLC4A4 TICAM1 SF3B1 GNE ACVR1 BAG3 YARS2 PTPN11 CD247 MCFD2 LMX1B PRKACG IKZF1 MMAB RASA2 FOXN1 FGG RNF168 PTF1A COX4I2 C1GALT1C1 TSR2 EPHB2 ACTC1 TKFC THRA FTCD TMEM127 CD79B LRP5 TBXA2R MPDU1 AAGAB HSPA9 SRSF2 IDH1 KRAS ERCC6L2 SGCD NDUFS3 FBXL4 CUBN COL1A1 RPL18 DNASE1 ARF1 CD70 TPMT MAX BRIP1 FERMT1 ITGB2 PUS1 TNFSF12 CDAN1 ANGPTL6 PEX3 NDE1 SLC22A4 CD109 HPGD EIF2AK3 TTN TALDO1 MAP1B ALDOA JAM2 PGM3 AP3B1 BLOC1S6 STIM1 KMT2D CASR GLB1 GDF2 C15orf41 F7 BLNK KCNN4 RRAS2 MEFV OSTM1 CD59 CTLA4 PDGFRA RPL5 KCNQ1 APOE TYMP TTC37 ABL1 ATM CHD7 PEX1 MT-ND4 PROC CYP11B2 MLH3 BCOR AKT1 DCLRE1C SLC7A7 HPS3 FGA RNF113A SETBP1 IRF2BP2 TF SEMA3E CHST14 ACTN2 PKLR GINS1 MT-TW PCCA PEX10 ESCO2 CD3G BRD4 COX8A THPO STX11 AGA DAXX CYP2A6 MARS1 DES CD40 COL4A2 PSMB8 LAMA4 FANCA MYH9 WFS1 MST1 PEX12 DSE NCF4 TPP2 COL17A1 SGCG XRCC2 PDGFRB SSR4 OCRL UNC13D SUFU ALX4 FYB1 SRP72 HSD3B7 IFNG ACAT1 ABCA1 PMM2 TPM1 TAL1 NF2 NPC1 CEP57 FANCM SMO CORO1A TONSL MUC1 JAGN1 DGUOK NEBL MAP2K2 NCF1 GALC RBM20 COG6 COMT XYLT1 RMRP PRKACA PLEKHM1 ERAP1 PSTPIP1 TFAM NEU1 HIRA TNFRSF4 KLHDC8B TGFBR1 PMS1 DIAPH1 RPL35A SOS1 CD8A MDH2 GSN RNF43 G6PD MT-CYB IL2RB SERPIND1 CAT GREM1 PAX4 NDUFA10 BCS1L HNF1A RIN2 ADAMTS13 TGFB1 HK1 RPS20 RPS26 MLLT10 CR2 IL2RA MYC NDUFA4 SLC35C1 NFKB2 ANKRD26 PEPD MTHFR F13B GCK ALG8 DNM1L ACTN4 MT-TL1 EPB42 BMPR2 CHEK2 RNU4ATAC NDUFB8 CCM2 ANKRD1 SERPINC1 NGLY1 PEX16 SALL4 MYBPC3 NPM1 ANO6 NDUFA13 SLCO2A1 TDP2 LAMA3 GNA14 GCLC CBLIF MALT1 MT-ND1 GPX1 CD40LG PLA2G4A ARFGEF2 GATAD1 NAXD CEBPE COX10 GP9 THBD PSAP TNFRSF13C PDGFB FANCC TNNC1 ACTA2 RNASEH2B FLNA COG1 IKBKG PRKG1 RB1 SLC30A10 CFB POMP LAMTOR2 NHLRC2 FANCD2 PTPRC POLE ABCD3 MT-TS2 PPCS GYPC COL4A5 CTNNB1 THSD1 SRC PIGA TYROBP IRAK4 TREM2 KRT1 FAH MAP2K1 CRYAB KIF15 ACP2 IL12B IRX5 NTHL1 SURF1 AIRE SEC23B CDCA7 EPHB4 RFX5 HMOX1 FH NFIX PACS2 PUF60 BTNL2 SMARCB1 DNAJC19 CDKN2A BRAF ELMO2 ERCC2 PDHA1 TBC1D24 CD28 LDB3 TBK1 WDR1 CSRP3 IL10RA NDUFS2 EXT2 EOGT TSC1 ARL6IP6 SLC40A1 CTCF DLD DDX41 IL6ST SLC20A2 COLGALT1 ATP6V1E1 ITK KIF20A APOA1 CD27 DPAGT1 RPS19 KCNJ5 RHOH FCGR2A GUCY1A1 NEXN TP63 NOS3 BMS1 MPLKIP BIRC3 STS POT1 STAT5B ATP11C KLF11 IL12A-AS1 MLX ERBB3 PCCB ECHS1 CD81 PNP WRAP53 TRNT1 CP ALG2 DBH LRBA PRKCSH KLRC4 NDUFAF2 EVC PEX6 ACVRL1 AGXT FADD SCO2 CYP4V2 OTULIN MT-CO3 AP3D1 LARS1 ARVCF BPGM TFRC HABP2 RBPJ VPS33B FOXRED1 PLAU NR1H4 TBX2 UBE2T ARHGAP26 SCN11A MET GLRX5 VPS45 USB1 MYH11 SLC19A3 RBM10 NLRC4 MYPN NCF2 ELN XK LYRM7 JMJD1C ARPC1B IVD TTI2 CACNA1S JAK3 MT-ND5 STK4 ACD RYR1 PADI4 RAD54L LMNB2 AIP ABCC9 CPT2 FZD4 CD36 CCBE1 HNF4A NDUFA2 MYLK ALG6 TNXB SEC24C FGFR2 NDUFA9 FLNC TNFRSF1B SLC25A21 ABCB7 CYBA CAPN3 TMEM67 SDHAF2 FKTN ZBTB20 RPSA TGFBR3 UNC119 GTF2H5 COQ2 HPS5 UROD PEX5 RRM2B CD4 MPO PEX26 TRIP13 ACTN1 GTF2E2 HRG ZNF341 RHBDF2 MSN CARD9 FARSB NPC2 C1S FARS2 UBAC2 KLKB1 ABCC2 UBE2A NDP DGKE NSMCE2 ATP6AP1 TLR3 SLC11A2 FIP1L1 ISCU HLA-DPA1 LRRC8A SHPK PLN PLOD3 TLR4 SLC25A13 HPS6 AASS PICALM COPA ATP6V1A CYP2C9 RS1 KIF23 DNASE1L3 KCNE5 IFNGR1 SLC37A4 INHBA CYP26C1 CLPX WT1 GLI1 F12 FN1 ABCD4 HPS1 PHF21A STING1 FIG4 NDUFS4 PDE4D SIK3 CEL BTK BLOC1S3 SARS2 CD55 ZMPSTE24 MYH6 AMACR FOXE3 FDX2 HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY STIM1 KMT2D NHP2 SMARCAL1 ARHGEF1 ATRX KCNJ1 NHEJ1 RAG1 JAK2 ARHGAP31 FANCL TERT STAT5B STAT3 RNASEH2C RRAS2 ITGA2B OSTM1 CASP10 BRIP1 ERBB3 RUNX1 PCCB FLI1 ELANE CD81 PNP THPO WRAP53 ADA2 TTC37 DTNBP1 MPL RNASEH2A ITGB3 LAT LRBA MAD2L2 GATA1 SMARCD2 CFH TNFSF11 TNFRSF13B HLA-B BCOR TP53 CFI MPIG6B CTLA4 SLC7A7 CALR AGK HPS3 GBA IRF2BP2 VPS33A HPS4 DOCK6 MRAS MYSM1 SLX4 PCCA GP1BA ESCO2 DHFR LACC1 CD46 OCLN FASLG TREX1 STX11 SLC19A2 NBEAL2 GP1BB CORIN ARVCF NUMA1 DLL4 RAG2 SCARB2 PSMB8 FANCA NFKB2 MYH9 TFRC CLCN7 WFS1 FANCB LYST TPP2 XIAP RBPJ XPR1 XRCC2 SCN10A PLAU PTPN22 TNFAIP3 PDGFRB FAS SPP1 RNASEH2B OCRL UBE2T SCN11A FYB1 TINF2 VPS45 NPM1 APOE ACAT1 PMM2 UFD1 SOS2 CTC1 ICOS PRF1 FANCM ERCC4 FCGR2B FANCE SNX10 WIPF1 MMAA LMBRD1 SRP54 DGUOK ANKRD11 LMNA NABP1 GALC COG6 COMT VWF IFNG MTOR STAT4 WAS SKIV2L JMJD1C FERMT3 ARPC1B IVD ENPP1 P2RY12 NOTCH1 HIRA DKC1 ADAR BRCA2 IFIH1 TBL1XR1 NSUN2 CFHR1 DIAPH1 SBDS SH2B3 BCR ACD BRCA1 IRAK1 SOS1 CISD2 PTPN11 SLC35A1 FANCG HMGCL FOXP3 LARS2 PRKCD TALDO1 RAF1 ADAMTS13 PRDX1 ABCA1 RFXANK SF3B1 TERC TBX1 CD36 DCLRE1C PSMB4 CIITA TET2 ABCC6 STOX1 RIT1 CR2 ACAD9 SEC24C ANKRD26 PEPD ABL1 MMUT NBN ALG8 STT3B PALB2 ASAH1 SLC46A1 G6PC3 SC5D NOP10 RBM8A RFWD3 A2ML1 RPSA SALL4 TBXAS1 ETV6 SAMD9 SPATA5 PML GFI1B RASGRP2 GNA14 HLCS HYOU1 PHGDH HPS5 TNFRSF11A UROS CD19 ORAI1 RREB1 CD40LG PLA2G4A FANCF SAMHD1 LBR HOXA11 GP9 THBD ACTN1 ABCG8 USP18 NRAS PSAP TNFRSF13C ITGA2 PDGFB FANCC MYORG RFXAP NIPBL COG1 ZBTB16 FCGR2C FLT1 SP110 CFB TUBB1 FARS2 POMP SMPD1 FANCI IKZF1 FANCD2 MMACHC TMEM165 ACP5 ZAP70 SLFN14 RARA MTHFD1 LIG4 TCN2 DGKE RTEL1 CBL FIP1L1 SAMD9L COL4A5 HPS6 MECOM EFL1 ADA MVK SRC RAD51 PSMB9 C3 NFKB1 PRKAR1A STAT1 PRKACG MAP2K1 FLNA MMAB RASA2 CA2 ATP7B KIF15 MS4A1 IFNGR1 RASGRP1 UQCRFS1 DNAJC21 CDC42 EPHB2 RAD51C KRAS SCN9A BTNL2 SH2D1A BRAF TBC1D24 GATA2 TBXA2R ABCD4 IL7R LZTR1 ERCC6L2 STING1 PARN EOGT NLRP3 DNASE1 HELLPAR SLC20A2 CYCS COG4 TNFSF12 HBB ITK HLA-DRB1 RPS14 CD109 RRAS BTK BLOC1S3 SARS2 CD55 USB1 ZMPSTE24 RFX5 RPS19 FCGR2A GNAS GUCY1A1 KDM6A JAM2 CFHR3 NOS3 AP3B1 BLOC1S6 HP_ABNORMALITY_OF_NEUTROPHILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHILS CYBA SMARCAL1 ATRX MPLKIP SLC46A1 PSEN1 G6PC3 BLNK MYH7 PIK3R1 FKTN MVK ANKRD1 NOP10 CD79A STAT5B RAF1 MYBPC3 LAMTOR2 CASP10 TAZ GSS TNNI3 TERT PCCB TCAP IGHM ETV6 TDP2 ELANE COG4 GTF2H5 WRAP53 PML TXNRD2 FUT8 MTRR DOLK PRF1 DMD LRBA MAD2L2 CD40LG HAX1 SMARCD2 GATAD1 LBR CEBPE HLA-B VCL BCOR PRDM16 GTF2E2 FHL2 TCN2 RNF113A ICOS NRAS HTRA2 IRF2BP2 CYBC1 FANCC RFXAP ACTN2 MSN TNNC1 MYD88 GINS1 MT-TW ZBTB16 MYSM1 PCCA HELLS RPS7 OTULIN FASLG STX11 AGA AP3D1 IKZF1 FAS DES CD40 MMACHC NUMA1 LAMA4 RARA MYH9 TFRC GFI1 FANCI TMPO NCF4 UBE2A TNNT2 LYST TFR2 DNMT3B RTEL1 FIBP TLR3 AK2 TRAF3 FIP1L1 SAMD9L CXCR4 PNP SDHA WAS SRP54 LRRC8A PPCS TINF2 CSF3R PLN VPS45 NPM1 USB1 CLPB TPM1 EFL1 SBDS FMO3 IRAK4 RAC2 RFXANK SEC61A1 MMUT FANCD2 TICAM1 MYPN FANCE HAND2 BAG3 WIPF1 MMAA LIG4 LMBRD1 PRKAR1A TONSL STAT1 NCF2 JAGN1 MECOM MMAB CRYAB NEBL PSEN2 SLC35A1 NCF1 TAF1A NABP1 RBM20 GATA2 RASGRP1 IFNG RAG1 CIITA TET2 SLC37A4 SCN5A CDCA7 ERCC3 DNAJC21 RAB27A STAT3 RPS17 RFX5 CAP2 PACS2 ACTC1 VPS13B ZBTB24 TBL1XR1 NSUN2 PGM3 FTCD ERCC2 STK4 ITCH CD79B HBB IGLL1 TERC ABCD4 UNC93B1 CYBB LDB3 TCIRG1 TBK1 IL7R WDR1 RMRP TARS1 FANCG SGCD CSRP3 FBXL4 PARN FOXP3 RPL18 NLRP3 GPI PRDX1 ABCC9 SF3B1 RECQL4 TCF3 FANCA NHP2 SLC35C1 RPS14 EIF2AK3 BTK DSG2 TTN GATA1 RPL11 CTC1 MYH6 PRKCD PMM2 RPS19 DKC1 RPL26 NEXN AP3B1 FDX2 KRAS HP_PANCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCYTOPENIA ACD NHP2 CBL TERT TCIRG1 FANCD2 NLRC4 FANCE SBDS ELANE MMAA SRP54 LMBRD1 UBE2T STAT5B PRKAR1A XRCC4 TET2 STN1 LIG4 IKZF1 OSTM1 MMAB XIAP NABP1 PCCB GATA2 COG6 IFNG ATR HLA-DRB1 PML ADA2 PALB2 MTRR DNAJC21 MPL RAB27A PRF1 RNASEH2A SCARB2 TINF2 IVD COQ2 STAT3 PSTPIP1 CALR LRBA DKC1 TNFRSF4 TBL1XR1 TNFSF11 SH2D1A NAXD RUNX1 BCOR ITCH MAN2B1 WRAP53 GBA TCN2 NRAS IRF2BP2 SAMD9L FANCC RFXAP SRSF2 FARSB JAK2 ZBTB16 PCCA DHFR SP110 HAVCR2 TALDO1 RFXANK NBN SF3B1 TERC NUMA1 RARA HOXA11 CIITA MTHFD1 NOP10 FANCA ITK CD27 FIP1L1 ASXL1 SLX4 SLC46A1 RFX5 SRP72 NPM1 MRPS7 PIGA EFL1 GFI1 KRAS HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY STIM1 KMT2D SMARCAL1 ATRX TCIRG1 NHEJ1 RAG1 C15orf41 AMMECR1 STK11 STAT3 PTH1R KCNN4 OSTM1 CD59 CASP10 TERT RPL5 RPS10 BRIP1 KCNQ1 NDUFS7 RAG2 TYMP HBD MTRR GLA LAT PIEZO1 RHAG MT-ND4 TTC7A MAD2L2 IREB2 VPS13A SRD5A3 CFH FAM111A RUNX1 BCOR CFI MPIG6B SLC7A7 INS GBA RNF113A IRF2BP2 ALAS2 TF GSR PLEC XRCC4 PKLR MT-TW SLX4 PCCA GP1BA DHFR COL7A1 PFKM CASK CD3G COX8A STX11 SLC19A2 DAXX LIPA MARS1 RPS28 PSMB8 FANCA CLCN7 WFS1 AK1 LYST NDUFV1 TPP2 COL17A1 TEK XRCC2 MMP1 MTTP OCRL SDHA UNC13D ALX4 TINF2 DCLRE1C ABCA1 FANCB CTC1 HBB TBCE SEC61A1 ICOS LPIN2 FANCM FANCE SNX10 WIPF1 COX6B1 MTR CTLA4 LMBRD1 COX14 ATP7B MUC1 HBA2 ANKRD11 COG6 IFNG STAT4 SLC4A1 WAS RMRP PLEKHM1 FANCL ERCC3 FOXP1 SMAD4 CALR GSS DKC1 EPO STEAP3 TNFRSF4 CRIPT CFHR1 RPL35A RPS29 IRAK1 EPOR MT-ND6 G6PD FANCG IL2RB CAT HMGCL BMPR1A GREM1 PAX4 RPL35 RPS17 FOXP3 KRT14 LARS2 NDUFA10 PRKCD TALDO1 HNF1A ADAMTS13 PRDX1 RFXANK TGFB1 ALPL HK1 MTFMT TERC RPS26 NDUFAF3 RPL31 RPL15 CR2 IL2RA NDUFA4 NFKB2 CYB5R3 PEPD MMUT NBN GCK ALG8 MMADHC RPL27 DNM1L ACTN4 MT-TL1 PALB2 EPB42 ITGB4 ASAH1 ABCC8 KIT ACSL4 SPTB SC5D NPHP1 NDUFB8 POLG TACO1 MT-TF BRCA1 NDUFA13 SLCO2A1 EPB41 LAMA3 VHL PIGT F2 HBG1 GNA14 PRF1 HYOU1 PUS1 GCLC TNFRSF11A SDHC CBLIF MALT1 UROS MT-ND1 ELANE ORAI1 GPX1 CD40LG IFT140 PLA2G4A CAD COX10 SLC2A1 HBA1 THBD ABCG8 GATA1 TCN2 BCL10 PSAP TNFRSF13C FANCC LIG4 COG1 ZBTB16 COA8 HELLS RPS7 ANK1 SLC30A10 SP110 CFB HLA-B NHLRC2 FAS FANCD2 TPI1 MMACHC MTHFD1 ADA ABCD3 MT-TS2 ASXL1 SAMD9L F8 TREX1 GYPC UBR1 CYP4F22 EFL1 SBDS SLC12A3 MVK PIGA REN RAD51 GALT PCNT PSMB9 C3 NFKB1 STAT1 TET2 RTEL1 LAMC2 NDUFV2 APC KIF15 CLCNKB MS4A1 IL12B IRX5 ITGB3 SURF1 AIRE SEC23B CDCA7 UQCRFS1 EPHB4 HMOX1 FH RAD51C PACS2 BTNL2 DNAJC19 ENG SH2D1A PGM3 ELMO2 ERCC2 PDHA1 CHD7 APPL1 IL2RG PHKG2 NDUFS2 EXT2 PARN IDH2 SLC40A1 SPTA1 GPI HELLPAR FASLG DDX41 KLF1 PHKA2 ITK APOA1 HLA-DRB1 SLC25A38 NPHP4 RPS19 CD46 TNFSF12 APOB RPL11 MPL FCGR2A KDM6A CFHR3 EPAS1 NDUFS1 LIPT1 MPLKIP BIRC3 PDX1 CPOX A4GALT SH2B3 STAT5B ATP11C KLF11 RPS27 ITGA2B NDUFS8 CTSK MLX ERBB3 PCCB ECHS1 CD81 PNP WRAP53 ADA2 TRNT1 CP DBH LRBA PET100 HBG2 NDUFAF2 SMARCD2 PHGDH ACVRL1 TNFSF11 AGXT TNFRSF13B MT-TQ NLRP3 HPRT1 FADD SCO2 VPS33A CA2 MYD88 MYSM1 SFXN4 MT-CO3 HAVCR2 AGGF1 LARS1 NOD2 NUMA1 BPGM TFRC JAK2 COL4A1 LAMB3 XIAP FOXRED1 CISD2 PTPN22 TNFAIP3 SPP1 UBE2T GLRX5 VPS45 NPM1 MT-TH SLC19A3 ERCC4 FCGR2B MMAA SRP54 IDH1 NDUFA12 ALAD NABP1 NLRP1 XK LYRM7 RPS14 CASR KCNJ11 COA3 FERMT3 NEUROD1 UMPS BRCA2 ZBTB24 CD151 MT-CO1 TBL1XR1 CCND1 NSUN2 MT-ND5 ACD TMPRSS6 FECH TARS1 COX15 SMPD1 LCAT ACAD8 SF3B1 RECQL4 HNF4A ABCB6 PSMB4 CIITA NDUFA2 MT-CO2 COX20 NT5C3A HAMP SAR1B NDUFA9 EGLN1 SLC25A21 ABCB7 OPA1 KCNE1 CBL SDHB SCO1 NDUFAF6 RPS24 TMEM67 SLC46A1 G6PC3 NOP10 RFWD3 PDGFRA PGK1 ZBTB20 RPSA YARS2 TBXAS1 ETV6 SAMD9 PTEN GCNT2 GTF2H5 PML SLC29A3 PANK2 SCARB2 COQ2 RPL26 UROD CD19 RRM2B TSR2 BLK FANCF CYB5A ACTN1 ERF GTF2E2 NRAS RFXAP FARSB IL7R KIF1B NDUFAF5 FARS2 FANCI IKZF1 ZAP70 RARA TP53 RPS15A TFR2 DNMT3B DGKE NSMCE2 EWSR1 SLC11A2 AK2 FIP1L1 ISCU PNPO MT-TN SHPK SLC25A13 FMO3 AASS ACVR1 PRKAR1A PRKACG FLI1 GDF2 KIF23 MECOM MMAB KCNE5 IFNGR1 RASGRP1 RPL18 PTF1A DNAJC21 COX4I2 CLPX C1GALT1C1 WT1 TKFC ADAR THRA FTCD ABCD4 HSPA9 SRSF2 PHF21A ERCC6L2 STING1 NDUFS3 NDUFS4 CUBN RBM8A DNASE1 CEL FERMT1 CDAN1 NHP2 HPGD BTK SARS2 CD55 USB1 RFX5 ALDOA FDX2 KRAS HP_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_ANEMIA HBB GALT KMT2D FOXP3 ICOS RHAG FCGR2B SPTB WIPF1 CPOX C3 EPB42 CTLA4 NFKB1 STAT3 ATP11C STAT1 PGK1 KCNN4 ATP7B WAS CASP10 HBA2 CD59 GSS ALAD STIM1 EPB41 MS4A1 NLRP1 RASGRP1 RAG1 TTC7A STAT4 SLC4A1 CD81 PNP PIGT UROS PKLR LAT GCLC CFH UROD LRBA PIEZO1 CD19 HMOX1 SPTA1 GPX1 GATA1 CD40LG TNFRSF4 BTNL2 ADAR CFHR1 PGM3 TNFRSF13B CFI HBA1 THBD ABCG8 IRAK1 NRAS TNFRSF13C GSR RFXAP G6PD IL2RB GP1BA CD46 ANK1 PFKM CASK LCAT FASLG CD3G CFB PRKCD ADAMTS13 GPI NHLRC2 RFXANK DNASE1 HELLPAR FAS TPI1 HK1 BPGM ZAP70 RAG2 ABCB6 CIITA AK1 TNFSF12 TPP2 COL4A1 CR2 IL2RA DGKE HLA-DRB1 NBN NT5C3A NFKB2 PTPN22 TNFAIP3 SPP1 SLC2A1 TREX1 GYPC RFX5 FCGR2A ADA KDM6A ALDOA FECH PIGA CFHR3 KRAS HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY ZNF341 TCIRG1 IL7R FOXP3 SRSF2 RNU4ATAC CBL LIG4 CARD9 TRAC CAPN3 IL2RG CD3D RAG1 TET2 STAT3 ELANE WIPF1 KIT SRP54 IKBKG CD247 FASLG RAG2 CASP10 CD3E RBM8A PDGFRB EXTL3 FAS PDGFRA IL6ST NLRP1 ZAP70 RASGRP1 DCLRE1C SPINK5 WAS ADA RMRP ADAM17 BCL11B HLA-DRB1 SLC27A4 ASXL1 BTNL2 SLC46A1 PGM3 PRKCD DOCK8 RUNX1 CARD11 CHD7 GFI1 HP_LEUKOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOPENIA MYSM1 FANCE DOCK8 SMARCAL1 CBL NHEJ1 RAG1 SLC46A1 G6PC3 ARHGAP31 FANCL TERT STAT5B RFWD3 CASP10 BRIP1 UNC119 TBXAS1 FOXN1 CD81 SAMD9 PML ADA2 TTC37 ATM TRNT1 CHD7 SCARB2 CD19 FANCF TNFRSF13B RUNX1 BCOR CTLA4 MMUT SLC7A7 ICOS IRF2BP2 TNFRSF13C SEMA3E RFXAP XRCC4 MSN FANCG DOCK6 ZBTB16 CTPS1 SLX4 HELLS TINF2 FASLG CD3G SP110 FANCI FAS FANCD2 NUMA1 DLL4 ACP5 PTPRC ZAP70 FANCA RARA NFKB2 GFI1 MTHFD1 TPP2 RAG2 TCN2 TFR2 RBPJ DNMT3B BCL11B DOCK2 EXTL3 TCF3 ATP6AP1 XRCC2 AK2 FIP1L1 ASXL1 PTPN22 IGHM TNFAIP3 SPP1 PNP UBE2T TREX1 GBA VPS45 NPM1 ADA FANCB CD247 IL2RG RAD51 VPS33A PRF1 FANCM ERCC4 FCGR2B PIK3R1 ELANE PSMB9 WIPF1 SRP54 SGPL1 NFKB1 CORO1A PRKAR1A STAT1 TET2 WAS EPG5 IKZF1 PTEN NABP1 MS4A1 GATA2 RASGRP1 STAT4 SKIV2L CDCA7 IVD STAT3 TTI2 NOTCH1 DKC1 LEP ADAMTS3 RAD51C BRCA2 VPS13B ZBTB24 BTNL2 TBL1XR1 JAK3 PGM3 STK4 CD3E RPL35A BRCA1 IRAK1 CD8A TCIRG1 IL7R SRSF2 RMRP ERCC6L2 LEPR HMGCL STING1 MAD2L2 FANCC EOGT RTEL1 PIK3CD RFXANK DNASE1 CXCR4 DDX41 TERC CCBE1 DCLRE1C PSMB4 CIITA TNFSF12 MAGT1 CR2 IL2RA MYC LCK LYST CD3D HLA-DRB1 RPS14 NBN SARS2 PRKCD RFX5 TGFB1 FCGR2A FAT4 PALB2 BLOC1S6 HP_TALIPES_CALCANEOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_CALCANEOVALGUS PMP22 ATRX ERMARD DHCR7 VIPAS39 VPS33B PLA2G6 CHRNG HP_MEGALOBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOBLASTIC_ANEMIA PHGDH SLC19A2 PRDX1 SLC46A1 MTRR HPRT1 MMADHC FTCD MMACHC CBLIF MTR DHFR UMPS CUBN LMBRD1 WFS1 MTHFD1 HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA RAG1 TPP2 RFXAP FOXP3 IL2RA IL2RB NBN LRBA TTC7A FAS STAT3 STAT1 FASLG CD3G PNP CASP10 RFXANK RFX5 PRKCD STIM1 NLRP1 ZAP70 RAG2 RASGRP1 CTLA4 ADA CIITA HP_IRON_DEFICIENCY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_DEFICIENCY_ANEMIA WAS CASP10 PLA2G4A HBB ALAS2 KCNE1 DAXX ATRX APC ABCD3 FASLG CLPX CLCNKB STK11 KCNQ1 SLC12A3 FAS FOXP3 CD55 HP_ABNORMAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLEEDING STIM1 BMS1 KRT14 BAP1 GDF2 ATRX VHL MTAP TSC2 F7 JAK2 ARHGAP31 GNAS SH2B3 STK11 STAT5B SERPINE1 EPCAM NF1 NOTCH3 CYSLTR2 RRAS2 ITGA2B MEFV IL12A-AS1 CASP10 CTLA4 COL1A2 TERT PCCB FLI1 CD81 THPO APOE ADA2 CTNNB1 F10 DTNBP1 DNM2 ITGB3 CCR1 PROC CYP11B2 MLH3 MSH2 PRKCSH AEBP1 KLRC4 ATP7A GATA1 VKORC1 CFH ACVRL1 COL3A1 TNFRSF13B HLA-B F5 PROS1 BCOR AKT1 TP53 XYLT2 COL1A1 SLC7A7 HPS3 FGA CFI IRF2BP2 CHST14 PLEC LMAN1 CST3 HPS4 GNAQ MYD88 GBA B2M DOCK6 MRAS PCCA GP1BA F2 OCLN FASLG SDHD SDHA NBEAL2 GP1BB DAXX C4A AGGF1 ARVCF KRT5 NUMA1 DLL4 COL4A2 C1R MYH9 CLCN7 RET DSE HBA1 LYST COL4A1 TNFSF11 RBPJ VPS33B XPR1 SLC25A11 CCM2 F11 TEK CISD2 MPL PLAU PDGFRB COL5A2 ARMC5 HLA-DPB1 SUFU FYB1 F13A1 HSD3B7 NPM1 ADAMTS2 UFD1 SOS2 NF2 LRP5 FAS MYH11 CTC1 GNA11 IL12A ICOS C2 ETHE1 FANCE SMO WIPF1 DLST GGCX TSC1 SLC39A13 SMAD3 TET2 STN1 GCDH FGB CAPN5 MAP2K2 NABP1 COG6 ELN COMT VWF IFNG XYLT1 WAS PRKACA JMJD1C IL23R G6PC FERMT3 LBR RAB27A ERAP1 IVD ENPP1 SMAD4 CALR P2RY12 USP8 NOTCH1 HIRA STXBP1 FBN1 FLNA TBL1XR1 MSH6 WFS1 TGFBR1 PMS1 CFHR1 PRKAR1A SDHB SOS1 EPOR SERPINF2 PRTN3 MDH2 GSN PTPN11 SLC35A1 HMCN1 DNMT3A FGG CAT PLVAP BMPR1A GREM1 FKBP14 COL5A1 APC RAF1 RIN2 PRLR AIP ALPL CPT2 TGFBR2 FZD4 SF3B1 BEST1 TBX1 CD36 RPS20 MYLK ERMARD ABCC6 RIT1 TNXB CR2 MYC ACAD9 SEC24C NFKB2 ANKRD26 MAX PEPD CYP11B1 F13B GP6 PRKCD KIF1B PMM2 RASA1 KIT PRDM5 RANBP2 SDHAF2 MPI SEC63 PDGFRA PMS2 A2ML1 TGFBR3 TGFB3 TGFB2 TREX1 ANO6 SLCO2A1 PDCD10 TMEM127 ETV6 TTC7A SAMD9 PTEN PML GFI1B COG8 ADAM17 RASGRP2 GNA14 PLOD1 PRF1 SCARB2 PIK3CA HPS5 SDHC CD19 ORAI1 GDNF RREB1 ARFGEF2 FH RUNX1 LMNA AKR1D1 DOCK8 GP9 RFT1 ATOH7 MMUT ACTN1 ABCG8 USP18 TNFRSF13C ITGA2 PDGFB FANCC F8 MYORG RHBDF2 ACTA2 ZNF469 ZBTB16 C1S SLC2A10 TMTC3 IKBKG PRKG1 FCGR2C RB1 ALDOB SP110 PEX12 SMPD1 TNFRSF1A IKZF1 UBAC2 APP ACP5 SLFN14 RARA TCIRG1 NRAS EPAS1 PTPN22 TFR2 SEMA4A ATP6V0A2 NDP KRIT1 SNX10 CBL FIP1L1 TRAF7 HLA-DPA1 PLOD3 TLR4 SLC25A13 NEDD4L CYP7B1 HPS6 THSD1 FAN1 SRC PIGA COPA ATP6V1A FANCD2 KRT1 SBDS ENG FAH NFKB1 RS1 MCFD2 MVK LMX1B PRKACG KIF23 MAP2K1 MFAP5 RASA2 ATP7B ACP2 MS4A1 LOX IL10 RASGRP1 SPARC STAT4 RNF168 INHBA CBS CYP26C1 ITGB4 STAT3 VPS13A EPHB2 NFIX PUF60 CDH23 KRAS SMARCB1 BRAF ELMO2 FN1 GATA2 TBXA2R HPS1 MLH1 LZTR1 IL10RA F9 EOGT ARL6IP6 NLRP3 SIK3 CTCF ARF1 HELLPAR TERC SLC20A2 COLGALT1 HOXA11 GALT TNFSF12 ATP6V1E1 FANCA PDE11A ANGPTL6 RPS14 NDE1 SMARCE1 CD46 KCNJ5 CD109 RRAS HPGD BLOC1S3 MAT2A CACNA1D CFHR3 FOXE3 MAP1B JAM2 HBA2 HP_THROMBOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOCYTOSIS TTC37 SKIV2L HBB JAK2 HMGCL RPS14 STING1 CALR MPL ELANE LACC1 CD55 RPSA ABL1 THPO ZMPSTE24 SF3B1 SH2B3 LMNA ACAT1 RUNX1 PMM2 RPS19 IFNGR1 TBC1D24 BCR MTHFD1 TET2 ADA2 HP_NORMOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCHROMIC_ANEMIA BPGM UQCRFS1 ALDOA TET2 RPL15 LCAT TPI1 SF3B1 HK1 HP_RETICULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOPENIA STEAP3 FANCC FANCA FANCD2 RPL15 PRF1 FANCE RPS24 TERT TERC SBDS MYSM1 RPS19 RPS17 RPL35A IFNG TCN2 RPS26 HP_NORMOCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCYTIC_ANEMIA BPGM EFL1 ALDOA TET2 RPS29 MYD88 TPI1 SF3B1 HK1 HP_INCREASED_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEMOGLOBIN EPAS1 JAK2 EPO GATA1 EGLN1 SH2B3 VHL HP_POLYCYTHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYTHEMIA CYB5R3 PKLR EPAS1 SLC4A1 JAK2 KCNN4 EPO ACVRL1 CCND1 GATA1 EGLN1 VHL ENG BPGM SLC30A10 PIEZO1 FH SH2B3 EPOR HP_GIANT_PLATELETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_PLATELETS GP1BB MYH9 ITGA2B GP9 LBR SLC35A1 CD36 ITGB3 ABCG8 GP1BA HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES PNP CASP10 RFXAP RFXANK PGM3 RFX5 FAS FASLG PRKCD ITCH RASGRP1 RAG1 CIITA STAT1 FOXP3 ICOS HP_CONGENITAL_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_THROMBOCYTOPENIA MYH9 MECOM WAS HOXA11 GATA1 HP_THROMBOEMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOEMBOLISM HABP2 INHBA KCNN4 MT-CYB KIF20A MTRR CBS F2 FCGR2C SERPINC1 TNNT2 MTHFR KCNQ1 SLC4A1 PRDX1 TNNI3 MYPN ADA2 MMACHC PRKAR1A FLNC F13A1 PIEZO1 JAK2 PIGA EPOR HRG HP_HYPOPLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ANEMIA SAMD9L RPS19 MVK RMRP LPIN2 PIGA HP_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKEMIA TREM2 CBL TERT CEP57 PICALM ATRX FANCD2 RPS15A RPS24 FANCE PIK3R1 GATA1 STS ELANE WIPF1 JAK2 SRP54 LIG4 POT1 GATA2 PTPN11 MLH1 XRCC4 TET2 EP300 NPM1 RARA SH3GL1 PDGFRA RPL5 ERBB3 RUNX1 KRAS PIGL NUTM1 ETV6 THPO DYNC2LI1 RPS26 GFI1 WAS RPL18 SH2B3 ABL1 LPP ATM SRSF2 TP53 NRAS DNMT3A DNAJC21 RPS27 RPS7 MPL RPL26 RPS29 CALR ASXL1 CEBPA TSR2 DKC1 APC ADAR NUP214 GLI1 HAX1 IFIH1 SCN9A MYD88 EVC SAMHD1 NSUN2 CREBBP TRIP13 SBDS RPS10 BCR BUB1B FLT3 SETBP1 MSH2 SAMD9L FANCC TCIRG1 BLM ADA2 PIK3CA FANCG KIF11 KIT RPS17 NBN RB1 NUMA1 BRD4 TREX1 SMPD1 RPL35 BUB3 RNASEH2C PDGFRB SF3B1 RPS28 MSH6 DDX41 PMS2 RPL35A BAX BUB1 TERC RPL11 CHIC2 FANCA RPL31 MLLT10 RPL15 RNASEH2A TAL2 EVC2 RPS14 SCN10A RPS19 RNASEH2B NF1 CBFB ARHGAP26 SCN11A F13A1 RPL27 BRCA2 F13B GNB1 TAL1 PIGA TYROBP EFL1 HP_GRANULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOCYTOPENIA AK2 RPS28 ELANE UNC13D TAZ TET2 RPL18 SF3B1 HYOU1 HP_APLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_ANEMIA PALB2 ACD TCIRG1 TERT DNAJC21 SBDS TINF2 NHP2 ELANE CD27 SRP54 XIAP NBN SRP72 IFNG PRF1 TERC GATA2 HOXA11 PIGA EFL1 GFI1 NOP10 HP_ACUTE_KIDNEY_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_KIDNEY_INJURY STOX1 TCN2 DGKE SAA1 CFH LPIN1 CD46 C3 FLT1 CACNA1S CFB RYR1 APRT HPRT1 HNF1B CCND1 CORIN CFHR1 HELLPAR CFI SLC26A1 THBD PYGM CFHR3 HNF4A SLC22A12 HP_RENAL_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_ARTERY_STENOSIS POU3F4 JAG1 ABCG8 SDHB KIF1B SDHD ABCG5 VHL ELN PCSK9 LDLR APOB NF1 VAC14 TMEM127 MLXIPL RET FIG4 YY1AP1 LDLRAP1 MAX GDNF STAT1 HP_VACUOLATED_LYMPHOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VACUOLATED_LYMPHOCYTES FUCA1 GLB1 SLC17A5 NEU1 AGA MAN2B1 CLN3 LIPA HP_RETICULOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOSIS G6PD RHAG PKLR SPTB C15orf41 EPB42 PFKM ANK1 CASK PGK1 KCNN4 FASLG SLC4A1 ADAMTS13 SPTA1 NHLRC2 CASP10 FAS HK1 RASGRP1 ABCB6 PIEZO1 CLCN7 SEC23B EPB41 HBB CDAN1 HBG2 GATA1 CFH KLF1 GYPC CFHR1 PRKCD GCLC SLC2A1 ABCG8 CFHR3 HP_SIDEROBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIDEROBLASTIC_ANEMIA FANCE HSPA9 TRNT1 FANCG FANCM ERCC4 XRCC2 MAD2L2 SLX4 FANCC FANCL ALAS2 YARS2 ISCU RFWD3 RAD51C BRCA2 LARS2 UBE2T PNPO SLC19A2 FANCF FANCI FANCD2 BRIP1 FANCA PALB2 BRCA1 FANCB WFS1 ABCB7 RAD51 PUS1 HP_ACANTHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOCYTOSIS MTTP VPS13A PANK2 CAD SAR1B APOB GATA1 SPTB CYP4F22 SC5D XK KCNN4 HP_ABNORMALITY_OF_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COAGULATION STIM1 SPTB PGM1 F7 EPB42 NOP10 MPI SERPINC1 NGLY1 STAT5B PEX16 RBM8A PTH1R A2ML1 RRAS2 OSTM1 DPM2 ANO6 GPR35 WRAP53 PML GP1BA F2 COG8 GNA14 F10 RFT1 HADH TERT PEX1 ALG2 PEX5 PROC ORAI1 ALDOB PLG VKORC1 SRD5A3 PEX6 PEX26 AKR1D1 TCF4 F5 PROS1 GP9 BCOR ITGA2B THBD ALG12 CFI IRF2BP2 PEX19 HRG F8 LMAN1 HSD3B7 MYD88 ZBTB16 MRAS PEX10 HMGCL HAVCR2 STX11 AGA F9 SERAC1 AGGF1 LARS1 KLKB1 NUMA1 ABCC2 RARA F11 NRAS MST1 PEX12 SSR4 NBAS F13A1 ATP6V0A2 RTEL1 CYP7B1 TEK CBL FIP1L1 NR1H4 UNC13D TINF2 NPM1 SLC25A13 ANK1 PMM2 ITGB3 EFL1 SOS2 PIGA VPS33A PEX14 PRF1 ATP6V1A GPC1 GNE PEX11B FAH GGCX HBB B4GALT1 MCFD2 PRKAR1A IDH1 MAP2K1 RASA2 XIAP LMNA NABP1 FLNA SLC30A10 VWF SLC25A15 GFI1B UQCRFS1 NBEAL2 DKC1 STAT3 PLAT CFH TFAM CACNA1S FGG KRAS DOLK TBL1XR1 FGA BRAF F12 GATA2 ACD SOS1 TERC MPDU1 RYR1 DPM1 PTPN11 LZTR1 DDOST MGAT2 AHCY FGB PARN IDH2 GATA6 BCS1L SLC4A1 RAF1 GP1BB SPTA1 DLD SERPINF2 PEX13 HELLPAR ALG6 COG4 ATP6V1E1 RIT1 ACAD9 NHP2 SLC7A7 PEX3 DPAGT1 TRMU CD46 RRAS F13B LYST USB1 ZMPSTE24 CTC1 PEX2 AMACR HP_REDUCED_FACTOR_XI_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XI_ACTIVITY PMM2 F11 MGAT2 MPI NGLY1 ALG6 HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA HBB BPGM SLC4A1 HBA1 KCNN4 GPI ALDOA PIEZO1 HBA2 HK1 HP_HYPOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_ANEMIA HBB ALAS2 KCNE1 TRNT1 LPIN2 TF ABCD3 CLPX HYOU1 DNAJC19 FAS FOXP3 CD55 IREB2 WAS CASP10 PLA2G4A DAXX SHPK ATRX APC FASLG SF3B1 CLCNKB ELMO2 STK11 HBA2 IRX5 KCNQ1 SLC12A3 GATA1 ABCB7 TET2 TMPRSS6 HBA1 PUS1 HP_SUBCUTANEOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_HEMORRHAGE STIM1 KRT14 PRDM5 ATRX MTAP F7 CD81 CHST14 GNAS STAT5B NOTCH3 TGFB3 ITGA2B TGFB2 TREX1 CASP10 CTLA4 COL1A2 TERT C4A ETV6 SAMD9 PML ADA2 GFI1B GP1BA COG8 GNA14 PLOD1 DTNBP1 PRF1 SCARB2 PROS1 ITGB3 CALR HPS5 ACVRL1 PROC CD19 ORAI1 FKBP14 AEBP1 RREB1 ATP7A GATA1 RUNX1 CFH TNFRSF13B F5 ADAMTS2 GP9 BCOR COL1A1 HPS3 KRT5 USP18 IRF2BP2 TNFRSF13C ITGA2 SH2B3 PDGFB FANCC F8 MYORG PLEC HPS4 ACTA2 MYD88 LMAN1 ZNF469 ZBTB16 C1S SMAD4 SLC2A10 F2 OCLN PRKG1 FCGR2C FASLG COL3A1 NBEAL2 GP1BB TNFRSF1A FAS ARVCF NUMA1 ACP5 SLFN14 C1R SLC39A13 RARA TCIRG1 MYH9 CLCN7 DSE HBA1 LYST F13A1 TNFSF11 TFR2 XPR1 SNX10 FIP1L1 PLAU PDGFRB COL5A2 ARMC5 HLA-DPB1 TGFBR1 HLA-DPA1 GBA MPL PLOD3 NPM1 APOE HPS6 UFD1 MYH11 ICOS C2 ETHE1 FANCD2 FANCE SBDS WIPF1 NFKB1 PRKAR1A MVK PRKACG GDF2 SMAD3 TET2 WAS MFAP5 PTEN ATP7B SLC35A1 NABP1 MS4A1 LOX ELN RASGRP1 COMT VWF IFNG PRKACA JMJD1C FERMT3 CBS RAB27A ENPP1 STAT3 P2RY12 RIN2 USP8 EPHB2 NFIX HIRA CDH23 COL5A1 FBN1 FLNA GGCX TBL1XR1 PTPN22 CFHR1 TBX1 GATA2 TBXA2R SERPINF2 PRTN3 HPS1 GSN JAK2 F10 ARL6IP6 NLRP3 SIK3 AIP TGFBR2 TERC SLC20A2 HOXA11 MYLK ABCC6 TNFSF12 FANCA TNXB CR2 PDE11A SEC24C NFKB2 ANKRD26 CD109 BLOC1S3 PEPD ENG MAT2A F13B GP6 PRKCD FOXE3 MCFD2 JAM2 CFHR3 HBA2 HP_PERSISTENT_BLEEDING_AFTER_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA P2RY12 F9 F8 VWF F5 F13B SERPINF2 GATA1 MCFD2 F13A1 HP_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCYTIC_ANEMIA HBB HBG1 TRNT1 HBD FECH LPIN2 ATRX CAT TEK MT-TW SMAD4 WIPF1 ACVRL1 ALAS2 SMPD1 DNAJC19 ENG TKFC GDF2 IREB2 SRD5A3 SHPK AGGF1 HBA2 SLC25A21 IRX5 PSMB8 ABCB7 HBA1 TMPRSS6 WAS SLC29A3 FDX2 PUS1 HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA CFB CFH ADAMTS13 CFHR1 HELLPAR CFI THBD CD46 C3 STAT4 IRAK1 CFHR3 SPP1 HP_METABOLIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ACIDOSIS GLYCTK GALT JAG1 SLC4A4 BCS1L SCO1 NOTCH2 HLCS NEUROG3 FAH COX6B1 MMAA NDUFB8 CPT1A ACADS COX14 TACO1 MCCC1 GCDH OCRL EHHADH SCNN1A NDUFV1 MMAB PLPBP PNPO NADK2 CTNS GSS CLCNKB SURF1 PCCB LCT ATP6V0A4 SCNN1G NDUFAF1 SLC4A1 NDUFA6 PET100 GATA3 HNF4A POLG2 MRPS22 CYP11B2 SCNN1B COA3 WNK4 IBA57 IVD PDHX FH TUFM NDUFAF8 BTD UQCRC2 INVS ALDOB CACNA1S AUH MCEE STX3 CAD HIBCH NDUFA2 COQ2 HNF1B AGXT VIPAS39 NDUFB11 HSD17B10 SLC5A1 COX10 HPD C1QBP PC MMUT WNK1 RYR1 SCO2 NDUFS2 FN1 MYO5B ATP6V1B1 SLC37A4 EPG5 DLD CA2 FBP1 PDSS2 PLVAP HMGCL PCCA CLDN16 NDUFA9 COA8 FBXL4 GFM1 ALDH6A1 SLC25A3 NR3C2 ACADVL KLHL3 COX8A KYNU TANGO2 PRDX1 MLYCD MMACHC CA5A UQCC2 OGDH NDUFAF3 COX20 KCNJ5 VPS33B UQCRB SLC25A19 GK DPYS MT-TN PPA2 SLC52A1 NDUFS7 MCCC2 ACAT1 MTO1 RMND1 SLC12A3 ACADM NDUFAF4 CUL3 HP_DEHYDRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEHYDRATION CYP11B2 ABCC8 MMUT PKHD1 KCNJ1 PDX1 NEUROG3 BLNK HYMAI MMAA CD79A SCNN1A MMAB KCNJ11 CTNS PCCB ACAT1 LCT GCK ATP6V0A4 IGHM AVPR2 SCNN1G LAMA3 CYP4F22 STAT3 ZFP57 SCNN1B HSD3B2 IVD DBH LAMC2 ACSF3 MCEE STX3 TGM1 ITGB4 CFTR SLC5A1 NR0B1 CD79B MYO5B IGLL1 CYP24A1 PLEC CLCNKB ALOX12B HMGCL PCCA SULT2B1 CYP11A1 NIPAL4 NR3C2 PLAGL1 INS CA12 SLC12A1 AQP2 FCGR2A ABCA12 TCF3 PIK3R1 SPINK5 EGFR TGFB1 SLC26A3 LAMB3 VPS33B AK2 EIF2AK3 ALOXE3 OCRL ACAD8 LRRC8A LIPN NLRP3 SDR9C7 HP_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEVER LIFR CYBA NKX2-1 PRSS1 KLHL7 KCNJ1 EIF2B3 LBR BIRC3 SPTB ELP1 EIF2B4 BLNK NAB2 RANBP2 LPIN1 EPB42 CD79A IL36RN STAT5B SPINK1 NOTCH3 TP53 MEFV MT-TF ERCC5 IL12A-AS1 TREX1 SLC11A1 CTLA4 MLX PRKAR1A RUNX1 IGHM AVPR2 GPR35 PRSS2 RAG2 PML SLC29A3 ADA2 STAT3 EPB41 CYP11B2 EDA NGF GLA CALR CCR1 MALT1 MT-ND1 MT-ND4 GPC3 XPC IL6 CCND1 KLRC4 CFH PSTPIP1 SAMHD1 HLA-B TCF4 MT-TQ LPIN2 BCOR BRCA2 P4HTM NOD2 NLRP3 BCL10 IRF2BP2 SH2B3 SH3KBP1 CYBC1 BCL6 IRF8 CACNA1S LIG4 MYD88 BCL2 RYR1 ZBTB16 IL7R GCH1 LACC1 KIF1B HMGCL CASK SCNN1A MT-CO3 MT-ATP6 HAVCR2 POMP STX11 POU6F2 TNFRSF1A C4A IKZF1 ATM LIPA UBAC2 TMEM165 NUMA1 AQP2 ABCC2 RARA RB1 MST1 NCF4 SPTA1 LYST PMP22 ADA RAG1 PTPN22 ORAI1 F5 DST MT-TS2 SLCO1B3 KRT8 EIF2B5 TRIM28 GALC TLR3 AK2 TRAF3 FIP1L1 WT1 TNFAIP3 SPP1 RNASEH2B EIF2B2 ELANE BCAP31 HLA-DPB1 HTR1A UNC13D HLA-DPA1 CPT2 LRRC8A GYPC QDPR TSC2 DCLRE1C CFTR TLR4 NPM1 ANK1 SCNN1B ACAT1 MT-ND5 MT-TH FAS ATP1A3 CYP21A2 PEX6 GFI1 CHEK2 IL12A TICAM1 NLRC4 CD3D PSMB9 WIPF1 IL2RG REST SRP54 TSC1 CD247 XPA MVK NCF2 ERCC3 HLA-DRB1 CACNA1A CD3E ZFHX2 ATP13A2 XIAP STIM1 NABP1 NLRP1 IL10 IFNGR1 IL12B STAT4 MIF WAS RNF168 RMRP IL23R SLCO1B1 STXBP2 DIS3L2 RAB27A ERAP1 IBA57 MPL FOXP1 STAT6 SCYL1 TRIP13 ADAR IFIH1 BTNL2 MT-CO1 TBL1XR1 CFHR1 MT-TW PRNP ATP1A2 CRLF1 PTPN3 CD79B CHD7 BCR GATA2 HBB SLC19A3 IGLL1 IRAK1 PRTN3 CTRC COG6 UNC93B1 CYBB MT-ND6 TCIRG1 TBK1 TH SLC12A3 G6PD GAA MT-CYB FBP1 PTS JAK2 STING1 DDB2 AVP MT-TL1 SLC4A1 ADAMTS13 MT-ND3 EIF2B1 NTRK1 RNASEH2C KRT18 POLR3A ALPL MT-TK SLC12A1 SCNN1G ERCC2 TCF3 MT-ND2 PSMB4 PIK3R1 MT-CO2 COL1A1 H19 NCF1 RNASEH2A MT-TV PSAP NGLY1 CD27 BTK ABL1 ERCC4 PMM2 CFHR3 TET2 ASAH1 NLRP12 HP_KETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOSIS SLC37A4 TRMT10A SHOX ITPR3 PDX1 PTPN22 FBP1 TWNK BCKDHB PHKG2 PHKA2 MMAA GYS2 INSR INS PAX4 KCNJ11 PPP1R15B MMAB SLC16A1 MLYCD IL6 CLCNKB HNF1A ACAT1 CA5A RRM2B ATP5F1D DBT GCK GCDH OXCT1 POLG GHSR PYGL POLG2 IVD ABCC8 GK BCKDHA EIF2AK3 BTD HNF4A ACSF3 CYC1 MCCC2 SLC25A4 SLC12A3 ACADM MMUT HP_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ACIDOSIS EPG5 JAG1 SLC4A4 BCS1L CA2 SCO1 PDSS2 NOTCH2 FAH CLDN16 COX6B1 NDUFB8 COA8 CPT1A FBXL4 ALDOB COX14 TACO1 COX8A OCRL NADK2 CTNS CLCNKB SURF1 ATP6V0A4 UQCC2 SLC4A1 PET100 GATA3 HNF4A CYP11B2 NDUFAF3 COX20 COA3 KYNU VPS33B CAD COQ2 HNF1B MT-TN VIPAS39 COX10 PC RMND1 SLC12A3 SCO2 NDUFS2 FN1 ATP6V1B1 HP_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALKALOSIS SLC25A15 SLC26A3 SLC12A3 CLCNKB SCNN1G KCNJ1 NR3C1 SCNN1B NARS2 USP8 KCNJ10 KCNJ5 SARS2 CPS1 ASL CACNA1D ASS1 SCNN1A AIP IKZF1 OTC HLA-B HSD11B2 SLC12A1 CLCNKA CA5A BSND CYP17A1 HP_HYPOKALEMIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_ALKALOSIS CLCNKB SLC12A3 KCNJ1 IKZF1 HLA-B SCNN1B HSD11B2 SLC12A1 CLCNKA BSND KCNJ10 CYP17A1 HP_RESPIRATORY_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ALKALOSIS ASL SLC25A15 CA5A ASS1 CPS1 OTC HP_GLUCOSE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCOSE_INTOLERANCE PLIN1 ABCC8 CASR PRSS1 ELMO2 LIMK1 SOX3 PDX1 SLC2A2 HNF1A HYMAI ESR1 SPINK1 GNAS MT-CO1 REEP6 PRPF6 STAT3 MT-ND2 KLF11 KIAA1549 WRN KCNJ11 LIG4 ARL6 EDA2R ELN FOXH1 WFS1 PWAR1 HMGA1 RRM2B GPR35 LIPE PRSS2 WRAP53 HAMP MT-TC PPP1R3A NSD1 ATM PAX4 MMP14 HSD3B2 RDH12 CP ZNF408 BRAF PAX6 MT-TK MT-TL1 MT-ND4 TTC7A NDUFS3 POLG2 NDUFV2 AEBP1 PSTPIP1 HMGA2 LRP6 PALLD TCF4 MT-TQ CDKN2A TTPA INS NDUFB11 GJA1 ALAS2 CEL PTCH1 XRCC4 BSCL2 SLC7A14 LMNB2 BBS2 PALB2 INSR TIMMDC1 NDUFAF8 NDUFB10 SIX3 AGBL5 GAS1 MT-CO3 PLAGL1 TREX1 SMAD4 SLC19A2 LMNA CORIN PDE8B IL6 BEST1 CRX PRKAR1A TGIF1 MST1 NDN GCK NDUFS6 CFTR RETN FOXRED1 RBP3 CNGB1 LIPC ZNF513 GPD2 UBR1 NDUFAF4 FOS CISD2 IFT140 HFE IRS1 HNF4A RNASEH2B FGF8 ARMC5 APOA5 LEMD3 DCAF17 PPARG EDA TP53 AGPAT2 GLRX5 OFD1 TINF2 MAGEL2 APPL1 MAPK8IP1 GTF2IRD1 MT-TH NDUFS8 NDUFAF3 TDGF1 CDHR1 SNORD115-1 ZFYVE26 TMEM126B IGF2BP2 PTPN22 CAV1 CNGA1 DHDDS RFC2 KIZ MEN1 HBB MT-TW PRPF8 FOXP1 NEK2 SNRPN MAK FGFR1 MMP2 CLIP2 HESX1 ZFP57 PRKACA GLIS3 VANGL1 NDUFS2 NEUROD1 NDUFV1 ABCA4 C8orf37 MT-TS2 USP8 DMPK LEP BRCA1 ADAR IFIH1 CERKL NRL CTRC GJB4 AIP RAC1 WT1 GJB3 SBDS MT-ND5 PTF1A ITCH PROM1 PIK3R1 MT-ND6 IMPDH1 TERT LEPR ALMS1 BRCA2 PRCD BMP2 CAT PNPLA6 NDUFAF2 FOXP3 GATA6 PRPF4 NODAL CA4 TUB RNASEH2C TTC8 POLR3A NR2E3 NDUFB3 POLA1 PWRN1 PCARE AR MT-CO2 STOX1 IL2RA PDE4D HGSNAT CTNS DNAJC3 IGF1R DLL1 PEX10 HNF1B CTC1 DNM1L ARHGEF18 RP1 SLC25A4 NSMCE2 CLRN1 AHR STAT1 NDUFS7 MT-ND1 OPA1 NDUFAF5 AMACR IFT172 NOP10 EIF2AK3 SIM1 MKKS MT-TF GUCA1B PDE6G CTNNB1 CCDC28B MT-ND3 LHX1 CDON APOE CPA1 SLC29A3 DMXL2 TOPORS IDH3B NEUROG3 SCAPER ARL2BP PDE6B BLK MT-TE SAMHD1 PEX6 SLC5A1 NPAP1 GPR101 CNOT1 EIF2S3 PRPF3 HLA-DRB1 ZIC2 NDUFS1 SPATA7 TRMT10A BLM CYP19A1 FUZ MT-CYB PTRH2 MT-TV FBN1 MLXIPL KRAS FLT1 FXN TWNK RPGR DISP1 PNPLA2 POLG MC4R BAZ1B RTEL1 PROKR2 NDP AHI1 SOX2 SAG HERC2 IER3IP1 KCTD1 CNBP CAVIN1 SLC12A3 SLC16A2 PROK2 PCNT EYS RGR GTF2I DHX38 IDH3A ZMPSTE24 PPP1R15B PTPN1 CLCNKB HJV ERGIC1 RHO SHH NPM1 ZBTB20 NDUFA6 AIRE RP9 TCF7L2 KLHL7 DNAJC21 AKT2 RLBP1 PLCD1 NKX2-5 CDH23 NDUFS4 FOXC2 MTNR1B MKRN3 SRP54 GLI2 NDUFA1 IRS2 NDUFA11 TERC USH2A POC1A RP2 ITPR3 MOG ARNT2 MT-ATP6 SNORD116-1 CIDEC BBS1 NDUFAF1 PDE11A FAM161A RPE65 PARN PRPH2 ROM1 SLC40A1 TBL2 OTX2 POLD1 MAFA KDSR CEP19 SEMA4A ARL3 LRAT TULP1 SNRNP200 IFT88 FSCN2 NDUFB9 GATA3 STUB1 ENPP1 MERTK RNASEH2A HLA-DQB1 NHP2 IMPG2 SUFU POMGNT1 SARS2 TKT USB1 PRPF31 SLC30A8 DKC1 PDE6A EFL1 CRB1 PEX1 NUBPL HP_RECURRENT_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FEVER SH3KBP1 LIFR CYP11B2 SLC12A3 MEFV STXBP2 PTS NGF IBA57 ORAI1 ELP1 PSMB9 GCH1 IL2RG NLRP3 LACC1 TNFAIP3 MVK BCAP31 TNFRSF1A ZFHX2 NTRK1 QDPR XIAP STIM1 LPIN2 GALC CRLF1 NOD2 PSMB4 CYP21A2 PEX6 COG6 ASAH1 NLRP12 SLC29A3 RNF168 PMP22 HP_UNEXPLAINED_FEVERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNEXPLAINED_FEVERS IFIH1 TREX1 NKX2-1 RNASEH2A SAMHD1 RNASEH2C PSAP TMEM165 GALC AVPR2 AQP2 ADAR RNASEH2B HP_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_OBESITY SETD5 XRCC4 RNPC3 THOC2 FMR1 HDAC8 PSMD12 ALMS1 PCNT GNAS LAS1L INPP5E EP300 RAD21 IGF1 PHF6 SLC10A7 ZBTB20 NIPBL KMT2A AKT2 MC4R PDE11A XYLT1 GHR IGF1R BPTF VPS13B ARMC5 CDH23 MAN1B1 ADNP CREBBP IGFALS TRAPPC9 SMC1A DYRK1B PRKAR1A SLC7A7 PCSK1 SMC3 USP8 POMC HP_NONKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONKETOTIC_HYPOGLYCEMIA ITGA8 FGF20 ACADL ACAD9 MEN1 ACADVL AKT2 CPT2 GREB1L RET HMGCL HP_HYPOKALEMIC_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS SLC12A1 CLCNKB CLCNKA BSND KCNJ10 KCNJ1 IKZF1 HLA-B HSD11B2 HP_HYPOPLASTIC_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HEART PKD1L1 CHRNA1 DVL3 CCDC22 TBX5 CHRND FOXF1 GATA4 TBX1 HAAO CHRNG ARHGAP31 FLI1 STAG2 B3GLCT DTNA CDK8 GJA1 NKX2-5 ZNF148 KYNU MCTP2 PAH COQ4 TRAF7 NR2F2 SMAD6 WASHC5 MKKS WT1 GATA6 NOTCH1 GATA5 CRELD1 MYRF HP_PALPITATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPITATIONS MDH2 KCNJ2 SDHD DNMT3A SLC12A3 BSCL2 TWNK RET CACNA2D1 PKP2 DLST SDHB SDHAF2 VHL MYL4 CACNA1S NF1 PRKAG2 SDHA DAXX MEN1 BVES CAV1 KCND3 ATRX KCNH2 NR2F2 CLCNKB MAX GATA6 SCN9A KIF1B RRM2B POLG EPAS1 SCN5A CAV3 GATA4 KCNJ18 POLG2 MYL3 SLC25A11 NPPA KCNA5 FOS CDH23 TMEM43 ISCU JPH2 JUP KCNE2 SDHC FH TP53 AGPAT2 MYL2 DSG2 DSC2 CNBP SLC25A4 GYG1 PPARG KCNQ1 TMEM127 CAVIN1 TET2 GABRA3 CRELD1 HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES GNAS MAP3K7 RAB33B RIPK4 FLNB TRPS1 PRKAR1A PDE4D HOXD13 HOXA13 HINT1 WNT7A TCF4 FLNA RBPJ KCNJ2 GDF5 FGFR2 PEX7 CANT1 PTHLH TP63 PORCN COG4 PRMT7 B3GLCT SALL1 SIL1 PIGS TWIST1 PHYH NPR2 IFT52 COL2A1 FGFR1 BMPR1B FAT4 VPS13B SRY DCHS1 RSPRY1 CHSY1 LMBR1 EZH2 POC1A DYM SMARCA2 HP_ABNORMAL_SCALP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCALP_MORPHOLOGY TWIST1 APCDD1 CTBP1 KLHL24 PPP1CB MPLKIP ARID1A MYO18B B4GALT7 KRT17 FRMD4A CEP152 STAG2 TCOF1 PEX19 ARID1B LSS GDF6 A2ML1 CDH3 TP63 LAMA3 CCNK COG7 LIG4 RRAS2 SRCAP BRCA1 KRT74 DPM2 SLC39A4 SLCO2A1 SETD2 LPAR6 MED13L EMC1 RNU4ATAC B3GALT6 NIPBL MED25 GNE GTF2H5 SMC1A TSC1 NSD1 FGFR3 FGFRL1 KIFBP SHOC2 HSPG2 TERT NHP2 TTC7A RHOA KANK2 TBX15 GDF3 FRAS1 GJB6 UBE2A ADNP PEX6 WASHC5 POLR1D EPS8L3 SPRED1 TMCO1 PHF8 SPECC1L TCF12 FIG4 SMC3 GTF2E2 ACTB RNF113A CDH1 SMARCA2 RPL21 TRMT10A TFAP2A KCNH1 PLEC FGD1 DLX4 SLC12A6 HDAC8 ZC4H2 ASXL1 NRXN1 MRAS MAN2B1 INSR KRAS WRN CLDN1 CHRNG COL3A1 DSG4 LETM1 SMARCB1 BRAF RAD21 IGF1 NF1 AIFM1 RERE ABCC9 KRT25 NRAS KLHL7 AEBP1 SPINK5 LRP2 EXT1 KRT14 LRPPRC COL17A1 MAP2K1 CHN1 PCNT UBR1 HLA-DRA PTPN22 DOCK7 CBL SIN3A MMP1 TBX2 SALL4 FGFR2 OCRL TWIST2 MEOX1 CDSN MAF KCTD1 THOC6 TECPR2 MBTPS2 ACTG1 SOS2 XYLT2 MYH3 CENPE NOTCH2 CHST3 SMARCD1 NOTCH3 RAB3GAP1 ZIC1 MID1 XRCC4 FLI1 LIPH DPF2 EP300 RAB3GAP2 RTEL1 PPP1R15B ALX3 LAMC2 NSD2 MAP2K2 RASA2 LMNA APC ATRIP IRX5 ANTXR1 COG5 ZBTB20 KREMEN1 SH2B1 NFIX ERCC3 CBS SLC9A7 MAFB TAF6 ITGA3 DKC1 TBC1D20 PCGF2 KAT6B RIN2 WNT10A CENPJ NANS SNRPE NELFA SYT1 SLC25A24 SRY PRKD1 PTDSS1 CPLX1 NSUN2 JUP EBP CREBBP KCNJ8 POLR1C KDM1A UGP2 ERCC2 GJB2 IFIH1 ECM1 ATP6V1B2 TBL1XR1 TBC1D24 MSX2 ACD SOS1 NECTIN4 DPH1 ALX4 SETD5 PTPN11 LZTR1 MAP3K7 EDARADD PACS1 RAB18 TARS1 B3GAT3 AXIN2 PLK4 SMARCE1 CNTNAP2 VPS13B AHSG RBBP8 ERMARD RAF1 PEPD SOX18 PIK3C2A NTRK1 POLR3A EFNB1 VAC14 KMT2A HUWE1 NOP10 TRPS1 SMARCA4 RIT1 ITGB4 ATR TRAIP INTU SLC35C1 HDAC4 CWC27 CCDC22 PARN IGF1R DSC3 RRAS HPGD FAS ALX1 ANKRD11 ARX ZMPSTE24 LAMB3 NBN DOCK6 MAB21L1 WNT4 ITGB6 HR COL7A1 ALDOA MEIS2 TINF2 SMARCC2 PEX1 HP_MESANGIAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESANGIAL_ABNORMALITY LAMB2 NUP107 PLCE1 COQ6 WT1 TP53RK SPRY2 FN1 NPHS1 ADA SGPL1 WDR73 ARHGDIA APOE OSGEP NUP93 HP_DIFFUSE_MESANGIAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_MESANGIAL_SCLEROSIS LAMB2 NUP107 PLCE1 COQ6 WT1 TP53RK NPHS1 ADA SGPL1 WDR73 ARHGDIA OSGEP NUP93 HP_ABNORMAL_TUBULOINTERSTITIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TUBULOINTERSTITIAL_MORPHOLOGY WDR19 NPHP3 LIMK1 PKHD1 RFC2 ALMS1 PDSS2 BAZ1B SLC7A7 HLA-DRB1 FAN1 PTPRO UMOD PUS3 NPHP4 GTF2I INVS FOXP3 CEP83 TBL2 BCS1L TRAF3IP1 BTNL2 MUC1 FOXC2 COQ2 ELN CTNS IFT122 CLCNKB ACP5 GTF2IRD1 CLCN5 CLIP2 NPHP1 BSND SLC30A9 SLC12A3 ANTXR1 MMUT GBE1 SFTPC REN DPH1 HP_TUBULOINTERSTITIAL_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TUBULOINTERSTITIAL_NEPHRITIS BCS1L TRAF3IP1 WDR19 BTNL2 MUC1 FOXC2 COQ2 ALMS1 PDSS2 SLC7A7 IFT122 HLA-DRB1 CLCNKB FAN1 SLC30A9 SLC12A3 MMUT UMOD PUS3 INVS FOXP3 CEP83 DPH1 HP_HYPERSPLENISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSPLENISM SMPD1 NOTCH1 CASP10 GBA FAS SCARB2 PRKCD ITCH RASGRP1 HBB FASLG HP_MACROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCYTIC_ANEMIA ADA2 RMRP RPS15A RPS24 SLC46A1 SFXN4 GATA1 RPS28 MTR DHFR RPS17 CUBN ALAS2 RPS7 LMBRD1 SLC19A2 PRDX1 RPL35 RPL15 LARS1 MMACHC RPL5 RPL35A TET2 PIEZO1 WFS1 MTHFD1 RPS26 RPS14 RPL18 RPL11 RPL31 KCNN4 CDAN1 MTRR HPRT1 RPS27 RPL26 RPS29 PHGDH CBLIF RPS19 UMPS TSR2 SLC4A1 MMADHC RPL27 DNM1L FTCD RPS10 TCN2 OPA1 HP_AUTOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_THROMBOCYTOPENIA TNFSF12 TPP2 KMT2D IL7R RFXAP ARHGEF1 CR2 ICOS NFKB2 CD19 NFKB1 FAS STAT3 STAT1 FOXP3 FASLG PNP PRKCD CASP10 SMPD1 RFXANK RFX5 TNFRSF13B GALC ACP5 MS4A1 ZAP70 RASGRP1 CTLA4 ADA KDM6A CD81 CIITA NRAS TNFRSF13C KRAS HP_LEUKOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOCYTOSIS RAC2 FOXP3 RNU4ATAC CBL CASR CAPN3 LPIN2 TICAM1 CD3D RAG1 ELANE SRP54 MVK HBB STAT5B CD247 PRKAR1A XRCC4 TET2 RAG2 SALL4 LIG4 CASP10 CD3E EXTL3 PDGFRA RUNX1 NABP1 NLRP1 IFNGR1 RASGRP1 CPA1 PML ADA2 STAT3 RMRP SRSF2 ADAM17 MEFV FERMT3 ARPC1B SLC27A4 HYOU1 CALR ASXL1 MPL NLRP3 BTNL2 SPINK1 CTRC TBL1XR1 SH2D1A CARD11 PGM3 DOCK8 BCOR PRSS1 CHD7 BCR GATA2 NRAS UNC93B1 IRF2BP2 ZNF341 TCIRG1 PRSS2 TBK1 IL7R G6PD CARD9 TRAC IL2RG RNASEH2B JAK2 HMGCL ZBTB16 KIT LACC1 IKBKG OTULIN CASK FASLG LMNB2 PRKCD TNFRSF1A RBM8A PDGFRB FAS SF3B1 NUMA1 IL6ST ZAP70 RARA ITGB2 DCLRE1C SPINK5 CFTR ADA XIAP BCL11B HLA-DRB1 TLR3 TRAF3 FIP1L1 ABL1 SLC46A1 NPM1 ACAT1 GFI1 NLRP12 KRAS HP_REDUCED_ANTITHROMBIN_III_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY DPM1 SRD5A3 SERPINC1 DPM2 PMM2 PGM1 DPAGT1 MGAT2 AHCY MPI ALG6 HP_ABNORMAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOSIS JAK2 IL12A CASR PRSS1 RHAG NLRC4 VHL FGA PGM1 PTEN MPI SH2B3 SERPINC1 STAT5B PRKAR1A PIGM PTH1R SPINK1 GDF2 TET2 IDH1 MEFV IL12A-AS1 CTLA4 PDGFRA NABP1 IL10 IDH2 THPO PRSS2 GNAQ CPA1 FGG PML STAT4 INHBA KCNN4 IL23R MTRR CBS ERAP1 SAA1 PROS1 STAT3 SMAD4 PLAT CALR CCR1 CFH MPL ACVRL1 F2 PROC TNNT2 KLRC4 AKT1 CDH23 KCNQ1 CTRC TBL1XR1 PTPN22 MYPN BCOR RFT1 TP53 HBB THBD EPOR PRTN3 CFI IRF2BP2 HRG HLA-B MT-CYB SERPIND1 KIF11 ZBTB16 SLC2A10 FCGR2C PDE4D PRDX1 F9 C4A AGGF1 HELLPAR UBAC2 PIEZO1 MMACHC NUMA1 RARA MYH9 F13A1 MYH7 CFTR HABP2 KIF20A FIP1L1 CD46 FGB MTHFR ENG CD55 HLA-DPB1 SLC4A1 HLA-DPA1 NOTCH1 MET TNNI3 TLR4 NPM1 ADA2 CTNNB1 PMM2 FLNC F5 BMPR2 USP8 PIGA FAS HP_EXTRAMEDULLARY_HEMATOPOIESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAMEDULLARY_HEMATOPOIESIS SLC4A1 RBM10 FGFR2 SPTA1 TNFSF11 OSTM1 CA2 FERMT3 JAK2 VPS45 SPTB ANK1 CALR MPL EPB42 HBB TET2 LBR HP_MEGALOBLASTIC_BONE_MARROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOBLASTIC_BONE_MARROW MMACHC TCN2 LMBRD1 MTRR MMADHC HP_SCHISTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHISTOCYTOSIS CAD SLC4A1 CFH KCNN4 SC5D ADAMTS13 PIEZO1 CFHR1 CFHR3 HP_SEA_BLUE_HISTIOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEA_BLUE_HISTIOCYTOSIS GLB1 SMPD1 NPC2 NPC1 APOE HP_HYPOKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKETOTIC_HYPOGLYCEMIA ACADVL GCK HADHB ABCC8 HADH HADHA CPT2 SLC25A20 CPT1A DOLK UCP2 HNF1A KCNJ11 HNF4A AKT2 HP_HYPERAMMONEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAMMONEMIA TANGO2 CPS1 MECP2 MMUT GLUL GOT2 HLCS CPT2 MCCC1 HMGCL PCCA NAGS MMAA CPT1A SLC25A13 SLC22A5 TMEM70 ASL ACADVL ACADL DLD HADHB ARG1 MMAB SERAC1 OTC PCCB SLC25A20 CA5A NDUFA6 ATP5F1D HADHA SLC25A15 GLUD1 NBAS ACAD9 SLC7A7 HADH MCCC2 ATPAF2 NR1H4 TUFM UQCRC2 CAD CYC1 ASS1 BTD SLC25A42 ACAT1 ACADM HP_RECURRENT_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HYPOGLYCEMIA MRAP GCK INSR MEN1 MC2R PAK1 HMGCL STAT6 NAB2 NFKB2 PPP1R15B SLC22A5 HP_FETAL_AKINESIA_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_AKINESIA_SEQUENCE DOK7 ACTA1 PIGS CHRNA1 GLE1 CHRND SLC18A3 MYOD1 MUSK NEB TRPV4 GBA MYPN NEK9 CHRNG MAGEL2 LGI4 CNTN1 KLHL41 KLHL40 CNTNAP1 KIF5C KBTBD13 TPM3 TPM2 RAPSN RYR1 NUP88 HP_APLASIA_HYPOPLASIA_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_TOE ABCC9 NOTCH2 FGFR1 CTBP1 RNU4ATAC DACT1 GLI3 PHF6 WNT10B SMOC1 MGP SMARCC2 ACVR1 TRPV4 GPC4 ARHGAP31 ARID1B WNT7A GDF5 FGFR2 MAP3K7 LRP4 C12orf57 GPC3 SMARCD1 NSD2 CTSK DHCR7 PDE4D GPX4 PORCN HOXD13 RAG2 B3GLCT SALL1 RMRP MYCN FGFR3 FGFRL1 BPNT2 SF3B4 BMPR1B NOG NPR2 KMT2A CHST11 PIGV WASF1 BMP2 SALL4 COL2A1 DNMT3A BHLHA9 TBX22 GHR FLNA NOTCH1 SOX11 GJA1 PUF60 NELFA HOXA13 DOLK SHOX CPLX1 PTHLH KCNJ8 ADAMTS2 EOGT TBL1XR1 CHD7 RIPK4 LMBR1 RAB3GAP2 FIG4 ROR2 DLX5 SOX4 LIG4 IL2RG KCNH1 DOCK6 PRKAR1A IHH ASXL1 IL7R FLI1 NEK1 GRIP1 DLL4 SMARCB1 LMNA LETM1 ALOXE3 ARID1A RBPJ SMARCE1 CHSY1 VAC14 APC HBA1 PTH1R ADA SPECC1L ARID2 TNNT3 SMARCA4 OFD1 SOX9 SMAD4 DCLRE1C IFT122 GNAS TBX3 RAG1 DPF2 ASAH1 HBA2 ALOX12B HP_ORGANIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORGANIC_ACIDURIA L2HGDH IDH2 SUCLA2 SLC52A2 ETHE1 GRHPR SUGCT ETFDH ETFB HLCS MCCC1 PEX1 PCCA MMAA ACADS RET LMBRD1 KIF1B HMGCL TAZ PRDX1 ACADL MMAB NADK2 ACADVL ALDH5A1 CPT2 POLG MMACHC UROC1 SLC25A20 HOGA1 GCDH HCFC1 D2HGDH AGXT TCN2 ACAD9 HADH FLAD1 MCCC2 SUCLG1 SLC25A19 TAT ETFA ACSF3 MCEE DNAJC19 ACAD8 SLC25A4 CD320 BTD GATM SLC52A1 MMADHC HPD SLC26A1 ACADM MMUT MVK SLC25A1 ABCD4 PCCB MPC1 HP_KETOACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOACIDOSIS SHOX ITPR3 PDX1 PTPN22 IVD ABCC8 INSR GK EIF2AK3 BTD HNF4A INS PAX4 ACSF3 KCNJ11 CYC1 SLC16A1 MCCC2 IL6 CLCNKB ACAT1 HNF1A CA5A SLC12A3 MMUT ATP5F1D GCK OXCT1 HP_HYPERCHLOREMIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLOREMIC_ACIDOSIS KLHL3 GALT SLC4A4 WNK1 WNK4 SLC4A1 NEUROG3 CTNS CUL3 HP_GOUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOUT SLC37A4 MUC1 SLC4A1 HPRT1 SPTA1 SEC61A1 G6PC HNF1B LRP6 SPTB ANK1 CLCNKB UMOD SLC12A3 EPB42 APOE PFKM PRPS1 DNAJB11 HP_NEONATAL_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOGLYCEMIA MTOR HSD3B2 PROP1 APPL1 DBH HADH PDX1 NEUROD1 KCNQ1 PAX4 CYP11A1 KDM6A UCP2 DNAJC19 HNF1A KCNJ11 HNF4A KCNQ1OT1 KLF11 IGF2 BLK FBP1 GCK TBX19 ABCC8 CEL HERC1 AKT2 GYS2 CLPB PRKAG2 CDKN1C INS HP_ABNORMAL_FACIAL_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_SHAPE TWIST1 FGFR3 CTBP1 CAMTA1 SLC6A8 PHF6 KCNJ1 NHEJ1 LMAN2L NEB KIF7 KRAS SGSH ARID1B PTEN SOX9 HEPHL1 TCF4 GPC3 RRAS2 UBE3B PLPBP UPF3B CC2D2A BRIP1 DDX11 COL2A1 ATRX SETBP1 SIX1 TMEM138 CBL TTC37 SALL4 BPNT2 GPR101 LTBP3 SMO CHD7 COX7B KMT2A HCCS PEX1 GLA REN FKBP10 COL11A2 NFIX DHPS MYH3 GFPT1 PTCH1 BPTF RAF1 B9D1 MED12 COLQ CCDC174 ORC6 ZMYND11 NECTIN1 HRAS RNF113A ZC3H14 RAI1 HIBCH SLC35A2 CEP57 KCNH1 MRPS16 SEMA3E XRCC4 CHRND CEP120 INPP5E GNAS HDAC8 NKX2-1 EDNRA GINS1 TCTN2 MRAS SLX4 PEX10 INSR WRN TAB2 GLB1 CHRNG BCOR ALDH18A1 DVL1 SMARCB1 BRAF C12orf4 NSMCE3 AGA NEDD4L HGSNAT BUB3 DDX3X CASK NALCN SLC26A2 FLCN TPM2 EXOSC9 ARL3 FANCA TRIP11 GHR KDM6B TBR1 PEX12 FANCI ARSB PEX7 BRF1 TRAPPC9 FBXO11 FAR1 TCTN1 DOCK3 TSEN54 SGCG TAF1 SEC24D XRCC2 TNNT3 ITCH MED23 CCDC8 OFD1 ALKBH8 BCAP31 CRTAP OCRL SUZ12 DCAF17 SRD5A3 ARL13B WNT5A NEXMIF ATAD3A HSD17B4 TUBB4A CEP104 GTF2IRD1 CLPB LARP7 UFD1 LETM1 SLC26A4 FANCB KIAA0586 SH3PXD2B AP4B1 TSHR RAC1 ATP6V1B2 FANCM GPC1 AGRN FLT4 POU1F1 MEN1 LHX4 GPC4 MACF1 SLC9A6 NTRK2 PPP2R5D DNMT3A DPF2 C12orf57 HPSE2 DIS3L2 SUMF1 ALG13 ARMC9 ANKRD11 EXTL3 DEAF1 SIN3A CUL7 CACNA2D2 CHRNB1 MMP2 CLIP2 COMT TBC1D7 ACTG2 SLC5A5 FGFR2 PRKACA PEX26 FANCL ERF ERCC3 PLAA FRRS1L MAFB TRMT5 DCHS1 ITGA3 PCGF2 L1CAM NEU1 KDM5B DNMT3B NANS DUOX2 HIRA BCR CEP41 MRPS34 TBCK GJC2 AKT1 PGAP1 CPLX1 AIP OTUD6B TMEM94 MN1 CTSA MAN1B1 PRKAR1A COL6A1 DNAJC21 SLC25A1 IQSEC1 SOS1 CYP24A1 TPM3 RERE EZH2 TBC1D24 GNAI3 CHRNA7 TRPS1 PEX2 MAD2L2 FGD1 NBAS PLK4 PPP2R1A CHAMP1 KCNC3 TALDO1 RIN2 PRDX1 RFXANK PEX13 SMARCE1 SLC18A3 CHSY1 PIK3R1 MEOX1 NAA10 HECW2 PBX1 CDKN1C USP7 HUWE1 PIEZO2 BRAT1 PIGN KCNQ1OT1 RPL10 COL5A2 PIBF1 BLM RIT1 NOG ATR TRAIP COL1A2 ARID2 SLC35C1 TNNI2 XYLT1 CRBN KCNQ1 HIVEP2 EIF2S3 IGF1R PEPD EYA1 PDHA1 GRHL3 TAPT1 ALG8 NR2F1 PMM2 CDC6 SMAD3 POLR3A PALB2 THOC6 PDE6D ASAH1 ABCC9 KLHL41 KMT2E NSDHL SNAP29 GPC6 ACTA1 MGP RTTN TUBB CEP152 SLC1A4 STRADA TCTN3 PEX16 MANBA FGF20 A2ML1 MAPK8IP3 ADSL SMARCD1 TGFB3 POLA1 RPS6KA3 GUSB BRCA1 PLOD2 SLCO2A1 QRICH1 B3GALT6 B3GLCT ADAMTS3 HSPG2 DYM MSTO1 HYOU1 HESX1 COG4 RREB1 LAS1L SLC45A1 KCNK9 AP4M1 SELENON SLC39A8 NPHP3 PAH LHX3 FAT4 BCORL1 TMCO1 DCPS ALG12 TRIM37 CDH1 PEX19 ALG9 TRMT10A NKAP GALNS SLC12A6 SEMA5A COG1 P3H1 ANTXR2 NAGLU LMNA TBX15 HELLS MAN2B1 IFT57 ADGRG6 RECQL4 H19 EED PPP2R3C LAMTOR2 PSMD12 KCNJ2 FANCD2 MMACHC CTNND1 RYR1 ADAT3 BRWD3 FLNA BAZ1B CCBE1 CTLA4 AP1S2 HS6ST2 GK FBN1 MKS1 ZDHHC9 TLK2 EBP DUOXA2 TP63 GP1BB SOST RHOBTB2 NONO ACTG1 MYH7 MVK PAX8 RAD51 JAG1 TNIK SLC16A2 CRLF1 TET3 PLCB4 HPGD COL9A3 PEX11B BSCL2 COL3A1 SLC17A5 LIG4 IDUA HOXD13 CDK8 ZIC1 ZIC2 TPO ZNF711 PQBP1 MAP2K1 SMC3 MAP2K2 FMN2 APC MPDZ KIF15 PEX5 GNPTAB WDR26 ATRIP ERGIC1 CRKL FMR1 COL6A2 ECEL1 AP4S1 CDCA7 SLC9A7 PIGO TCOF1 RPS17 SMC1A PIK3CA TBX22 KAT6B CENPJ RLIM PIGL GBA RAD51C PACS2 PUF60 PUS3 CDH23 CTNND2 PGM3 CDC42 TMEM67 ELMO2 ERCC2 TBX1 POLE CNTNAP2 SH3BP2 CD28 POC1A DPH1 FLII RPGRIP1L COL11A1 CHRNA1 MYL2 LZTR1 B3GALNT2 NDST1 TG CHAT ALDH6A1 ASXL2 SERPINH1 ATP6V1A CTCF RBBP8 UBB DHX37 PIGW AHCY GDF6 PHIP CANT1 AGPAT2 CDK10 SMARCA4 PDE11A KCNA1 AHI1 RRAS NUP133 NDUFB11 COL1A1 NFIB MPL TRHR HYLS1 RNASET2 SETD2 PIGG TGFB1 COL9A1 WNT10A TBL1XR1 B4GALT7 SUFU DSTYK PHACTR1 SNX14 SMS PIGY CCDC47 LRP4 TMEM231 LIMK1 MPLKIP KLHL15 AFF4 AMMECR1 ARX COG7 ELN PITX2 DPM2 MED13L PORCN MRPS14 CLIC2 FGFRL1 FUT8 MMP14 PAX3 RHOA SOX11 KANSL1 AEBP1 AP4E1 SLC5A7 PEX6 PHGDH TELO2 HMGA2 POLR1D TRIP12 FIBP MCOLN1 IGF2 SNIP1 DENND5A CACNA1C CLIP1 SMARCA2 ITGA8 MTOR SRCAP VPS33A WDR4 COL13A1 MYSM1 FLI1 UFC1 NRAS C2CD3 COL6A3 ROR2 UNC80 MCTP2 ARVCF FBXO31 MED25 COL9A2 MAPK1 AGTR1 MYH8 MBOAT7 PTPN11 IQSEC2 CPLANE1 EXT2 DHX30 TBX2 VEGFC ARMC5 LEMD3 BMP1 UBE2T HERC1 TMEM216 MAF TECPR2 EDN1 MATN3 HNRNPK SOS2 STAG1 PIGV TMEM237 MYO9A PEX14 SEPTIN9 RFC2 ERCC4 FLNB C12orf65 CDH11 NOTCH3 GTPBP2 SNAP25 MOCS2 MID2 MEIS2 GCDH ZBTB24 NSD2 FOXE1 ANOS1 OPHN1 NHS FUCA1 MYCN CHRNE SKIV2L JMJD1C TCF20 ZBTB18 G6PC TMEM70 TTI2 PRSS12 ASPH FGF3 CNTN1 AUTS2 BRCA2 CEP55 STXBP1 PAX1 NSUN2 JAK3 IDS POLR1C RAB11B PTF1A NFIA RSRC1 ASH1L ST3GAL3 CXorf56 ATP7A BUB1B PYCR1 CCDC115 PHF8 SOX4 GNPTG TARS1 B3GAT3 ALMS1 ETFDH RAB39B SON SLC25A24 STX16 NUP107 RMRP ARID1A ATP6V1E1 SP7 DDRGK1 PIK3C2A PYCR2 EFNB1 TTN NSD1 PTCH2 TUSC3 CFL2 BUB1 CIITA AIMP1 SATB2 PIGS CLCN4 RNF168 PDE4D AHDC1 USP9X SOX5 EDC3 NKX2-5 RUNX2 HDAC4 NGLY1 SEC24C IFITM5 IARS1 MAGEL2 BMP4 FTO SYT2 LAMB2 PRMT7 TPRKB PRKAG2 PGAP2 MTM1 TNFRSF1B AMER1 LIFR FANCE RSPRY1 TRMT1 VAMP1 NOTCH2 NAGA SMARCC2 ABCA5 STAG2 CHST14 CRADD TSPEAR RFWD3 SPRTN ALG11 CSF1R LINS1 FGF9 CLCF1 SLC10A7 EMC1 GNE GTF2H5 CHD4 LMOD3 ACE CENPE YY1 MYPN GNS NPHP1 CSPP1 CTDP1 ZNF148 GDF3 SPEG UBE2A FANCF TRIP13 P4HTM SPRED1 VARS2 GTF2E2 KAT6A RFXAP TDP2 FARSB FANCG CTNNB1 ASXL1 NRXN1 STAT3 GPAA1 KIAA0556 SLC2A10 GJA1 KIAA0753 TAZ RUSC2 WDR81 SALL1 GRIN2A PIGC IGF1 TRAF7 APC2 PAK1 PIGA AIFM1 MORC2 SARS1 AGT BIN1 SSR4 SPECC1L OBSL1 CHN1 CC2D1A SIX5 PCNT KMT2C WAC HACD1 DPYS RBMX ETFA MOCS1 ITGA7 PKD2 ADAMTSL2 PLOD3 EZR DVL3 RIC1 PUM1 ZNF423 ADNP LOXL3 CUL4B DACT1 CHST3 MBD5 PKHD1 PROP1 ETFB FAM149B1 GATA1 ATP6V0A2 GRIK2 GTF2I LMX1B PAM16 ZMPSTE24 TSHB PPP1R15B RAPSN KIF4A RASA2 KBTBD13 GDF5 PSPH POGZ SLC37A4 SH2B1 BMPR1A EHMT1 KLF13 TMEM260 ACER3 TCF12 COL5A1 HEXB CEP290 KCNJ8 BRPF1 ADAMTSL1 EBF3 CLTCL1 CAMK2G SIM1 LONP1 PACS1 IYD SET FANCC FBXL4 HNMT MAPRE2 DNAJC19 ELOVL4 TRIO PAK3 METTL23 WASHC4 WNT7A TBL2 RNF135 ERMARD RDH11 FHL1 STUB1 DYNC1H1 PEX3 EIF2AK3 TECR TUBGCP4 MAP3K20 PGAP3 RFX5 ACTB USP8 AP3B1 SOX18 HP_SHORT_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_COLUMELLA CTCF NAA10 KDM6A ERF SHH DNMT3A LMBR1 CENPF ACTG1 ALX3 B3GLCT ACTB TWIST1 NALCN KCTD1 KMT2D HP_DEEP_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PHILTRUM SNX14 PIGS MAP3K7 NRAS EZH2 PPP1CB SHOC2 EFTUD2 SMOC1 MGP DNMT3A TRPS1 FBN1 CDKL5 INTS1 PAM16 OCRL TALDO1 KIF11 NBN SUZ12 KCNK4 OFD1 SETD5 TFAP2A DPM2 BRAF NAA10 ATP6V1B2 EED CHSY1 PBX1 EBF3 NSD1 ARID2 HRAS MED12 EXT1 CBL UBE2A MYH8 PIGT HP_LARGE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOREHEAD RNF125 ATRX BMPR1A CAMTA1 SUMF1 FMR1 PDE4D STRADA HS6ST2 SRC MEIS2 PTEN FLNA ARID2 LMX1B STXBP1 AMMECR1 HP_FACIAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CLEFT ALX1 FRAS1 SPECC1L DYNC2H1 COLEC10 TCOF1 POLR1C EVC2 WDR35 POLR1D WDR34 IFT80 EVC RIPK4 WDR60 HP_POTTER_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POTTER_FACIES ITGA8 ACE NPHP3 PKHD1 AGT FGF20 AGTR1 REN CEP55 HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS CTBP1 PRSS1 SDCCAG8 TCIRG1 MICOS13 RAG1 INSR IL17F KCNAB2 ARHGAP31 MVK SPINK1 TSFM RNASEH2C EPCAM DNAH1 CASP10 KCNJ11 CC2D2A MOGS ASAH1 NDUFAF1 GPR35 RAG2 WDR35 LAT CCR1 PIEZO1 RHAG TTC7A NDUFS3 PTF1A AUH AXIN1 AP1B1 SERPINA1 MPIG6B CALR INS GBA ICOS CFI ALAS2 MYBPC3 MRPS16 BSCL2 IFT43 BCL2 PHYH MRAS SLX4 GP1BA DHFR OCLN CASK GLB1 ACADVL BBS4 TREX1 ABCG8 HGSNAT LIPA LRP5 FCGR2A WDR60 ARSA CFTR LYST NBAS FOXF1 AP1S1 ITCH ABCC8 MPL SLC16A1 MDM2 WT1 SRD5A3 SRP54 CFB TNNI3 IFT80 UFD1 LETM1 SLC26A4 NDUFAF3 MEGF8 TMEM126B HNRNPA2B1 RFXANK LPIN2 CD3D GPC1 FOXJ1 PIK3R1 JAK2 COX6B1 TMEM199 PCCA RAD50 HBB GANAB PKHD1 KRT8 COX14 ATP7B HFE DNAL1 ALG13 EXTL3 WDPCP HLA-DRB1 ACTG2 SLC5A5 ZFP57 IL23R DIS3L2 PEX12 LBR SMAD4 NDUFV1 CFH PEX5 DMPK DUOX2 BRCA1 ADAR UQCRC2 PCK1 IFIH1 DOLK MRPL3 MSH6 OTC CTSA APC SH2B3 PKD1 DNAJC21 STK11 ACADM BCR MITF IGLL1 HMGCS2 MT-ND6 TERT NSD2 FBP1 C8orf37 PEX2 SLC22A5 TP53 HMGCL MAD2L2 WDR19 FOXP3 IL12RB1 MT-TL1 RAF1 TANGO2 DYNC2H1 PEX13 NEK1 NODAL TERC NDUFB3 CDKN1C RFWD3 BRCA2 PKD1L1 H19 FGA RIT1 PYGL SLC4A1 ACAD9 CLDN1 MMUT GDF1 PRKCD KRT6A RECQL4 PALB2 NDUFS7 NLRP12 KIT MCIDAS SC5D DMD EIF2AK3 NPHP3 PMS2 PIGM A2ML1 POLG TACO1 LYRM4 MT-TF ALMS1 GUSB CCDC28B MT-ND3 CPT2 APOE VHL GCDH PRDM16 AP2S1 SEC63 HYOU1 OFD1 TNFRSF11A PRKCSH UROS ORAI1 COG4 RREB1 IFT140 PEX11B KRAS C1QBP AKR1D1 CFAP298 SMPD1 RFT1 PEX3 PC NAGA TMEM216 MEN1 USP18 PEX19 NDUFS1 PEX1 MKS1 GALNS NAGLU COA8 MAN2B1 CTSC RAD51D RASGRP1 TARS2 FLT1 SP110 CCDC39 ARMC4 ACADL FAS TPI1 TMEM165 NEU1 MMP21 COX10 DNAI1 SEMA4A ACVR2B COG2 UQCRB CENPF BCKDHA ASXL1 CDC73 SAMD9L ATP7A EARS2 UBR1 TRIM28 GP1BB CYP7B1 TGFB1 HPD PIK3CA BBS12 SBDS SLC12A3 PAX8 RAD51 GALT PSMB9 SLC17A5 IDUA NFKB1 IFT27 TWIST1 INPP5E BMPR1A TET2 HADHB XIAP CLCNKB ESCO2 MS4A1 ERGIC1 BRAF NUTM1 CDK4 FAM111A MIF STAT4 BBS7 UQCRFS1 STXBP2 CBS AKT2 ADAMTS3 RAD51C ACSF3 NDUFS4 LMNA SH2D1A HBA2 TBX1 SLC25A15 CD96 IL12A MLH1 MPC1 RPGRIP1L IL7R LZTR1 APPL1 COL14A1 MECP2 IL2RG PRPS1 PHKG2 DDOST POU1F1 MT-ND4 CNTNAP2 PARN PEX10 PRKAR1A PIK3CD GPI TTC25 KRT18 VCP HELLPAR FASLG PEX6 NDUFB9 PHKA2 RNASEH2A MT-TV SLC25A19 CLCN7 CD46 RRAS IFT172 LACC1 TRHR GALE TNFSF15 PDX1 FAT4 EFL1 NUBPL SNX14 NHP2 RSPH1 DYNC2LI1 LIMK1 PSAP HNF1A CPOX CD79A SURF1 LYZ LIG4 ARL6 ELN CTSK NADK2 DPM2 CEP55 GBE1 RRM2B ABCC2 PRSS2 ADA2 EPB41 FGFRL1 DNAH9 SAA1 HADH BTK ABCB4 RSPH4A NDUFV2 ERCC8 GATA1 TNFSF11 HMGA2 LIPE TNFRSF13B CCDC65 MT-TQ CDKN2A NLRP3 CYBC1 CA2 UGT1A1 MYD88 DOCK6 MGMT AGL DZIP1L NDUFB10 IL21R PLAGL1 HAVCR2 NBEAL2 CORIN SLC40A1 AGGF1 NOD2 DLL4 RERE GCK B9D1 LRPPRC INPPL1 XPR1 ABHD5 DNAAF6 FOS IGF2 LEMD3 TRAF3IP1 HLA-DPB1 PPARG RFXAP DHDDS ANK1 ARX SOS2 MT-TH NAGS PCCB PEX14 ATP8B1 PRF1 ERCC4 REST MMAA IRF8 BBS10 DHCR24 STEAP3 ACD STN1 PCK2 BBS9 SDHA GALK1 NLRP1 FUCA1 SKIV2L COA3 G6PC FERMT3 PDGFRB GNAS STAT6 NEUROD1 LZTFL1 SCYL1 DNAJB11 NELFA MT-CO1 CTRC CCND1 PCSK1 PRTN3 CSPP1 CCDC115 DPM1 CYBB HOXD13 TCTN2 GAA FECH ETFDH BMP2 HJV PNPLA6 F10 AHCY FGB COX15 GATA6 KCNQ1OT1 CFAP410 PIK3C2A CAV1 STRA6 IL17RA MMEL1 PSMB4 CIITA LRRC6 MT-CO2 DNAAF5 STOX1 COX20 IRF5 CDKN2B UMPS USP9X INTU SPECC1L TRMU IARS1 CTNS SLC2A1 HAMP SAR1B HNF1B SON CEP120 CBL SDHB SCO1 HNRNPA1 SPTB PGM1 G6PC3 NOP10 MPI SPRTN SCNN1A ALG11 CD19 SLC39A4 HADHA IGHM PET100 SAMD9 DBT ABCA1 CPA1 GNE SLC29A3 COG8 SLC25A20 TUFM DCTN4 BLK CYC1 FANCF NBN ATRX NRAS CEP290 MYORG BCL6 SPEF2 MCM4 FANCG PTRH2 ALDOB FANCI SLC13A5 TNFRSF1A HBG2 PIGA ZAP70 NKX2-5 PNPLA2 SPTA1 TFR2 KRIT1 RTEL1 EWSR1 SLCO1B3 SNX10 ETFA TNPO3 PKD2 MT-TN NOTCH1 IER3IP1 ADAMTSL2 MRPS7 TRAF3IP2 FAN1 FMO3 VPS33A NOTCH2 TWNK PROP1 ENG YARS2 GAS2L2 CD247 CEP83 LIPT1 PAX4 ANKS6 TSHB XRCC4 MMAB KCNN3 RASA2 DHCR7 B9D2 ANTXR1 SLCO1B1 LDLRAP1 POU2AF1 COX4I2 MUC5B NOTCH3 DNAH5 SLC25A13 HNF4A TKFC HEXB KLF1 VIPAS39 RARB CD79B AAGAB SRSF2 PTPN11 IYD FBXL4 GUCY2D HMBS MAFA PEPD CEP19 DNAAF2 CD70 DGUOK TNFSF12 STUB1 CDAN1 BBIP1 PEX16 HPGD CASP8 TKT PTEN CLEC7A BTD KPTN BCHE TALDO1 DKC1 ALDOA JAM2 CFAP53 AP3B1 STIM1 PLIN1 CASR BCS1L GDF2 TSC2 C15orf41 BLNK BACH2 SGSH KCNN4 GPC3 RRAS2 MEFV OSTM1 CTLA4 PDGFRA BRIP1 RUNX1 SFTPC BOLA3 MED25 TYMP TTC37 KCNH1 LTBP3 MTRR MLH3 FAH MSH2 IL6 POLG2 ALDH7A1 GAS8 TRIM32 TCF4 ALG8 SLC7A7 SETBP1 SLC35A2 SLC37A4 TF CEL CHST14 RPGRIP1 DLD PKLR MT-TW CIDEC PFKM BRD4 COX8A THPO STX11 AGA POU6F2 TBX19 DAXX C4A MARS1 PSMB8 FANCA KLHL7 MST1 TRAPPC11 DSE NCF4 NDUFS6 ARSB TPP2 RAB23 UROD F5 XRCC2 TMEM67 TERF2IP CDON B2M HYMAI DNAAF4 FGFR2 UNC13D AGPAT2 TINF2 HSD17B4 DCLRE1C HSD3B7 NPHP1 ACAT1 PMM2 GTF2IRD1 MT-ND5 NDUFS8 FANCB NPC1 GPIHBP1 DPM3 TSHR BAP1 FANCM LDLR ERCC6 CPT1A LHX4 GPC4 SUMF1 CD3E NCF1 CLIP2 COG6 COMT DCDC2 RMRP RSPH9 GLIS3 PEX26 PLEKHM1 RAB27A ERAP1 TRMT5 NDUFS2 TFAM HIRA TNFRSF4 AKT1 CPLX1 WFS1 PMS1 WDR34 SOS1 LCAT STX1A GSN DNAJB13 RNF43 G6PD HLA-B MT-CYB WNT3 IL2RB IQCB1 C11orf95 ADAMTS13 C1S HK1 RPS20 CCNO CR2 IL2RA MYC CAVIN1 KCNQ1 NFKB2 LRRC56 CTC1 IFT122 NSMCE2 EPB42 SCNN1B CHEK2 RNU4ATAC KMT2E BCKDHB AMACR IL17RC NAB2 NGLY1 SLCO2A1 CFAP221 SDHD B3GLCT GFI1B CDKN1B STK36 BBS5 C4B NEUROG3 SDHC MT-ND1 ATPAF2 HESX1 DDRGK1 CD40LG NME8 SLC39A8 LHX3 BTNL2 TRIM37 SLC25A1 POMC FBN1 TNFRSF13C PDGFB ALG9 TGFBR2 SLC30A10 GPD1 NHLRC2 FANCD2 PTPRC ZIC3 ADA BAZ1B ABCD3 MT-TS2 PCSK9 POT1 ASS1 GYPC GCGR CDKN1A DUOXA2 CTNNB1 CFC1 CLPB NPHP4 SFTPA2 JAG1 TPO STAT1 CCDC151 HYLS1 GNPTAB TTC21B NTHL1 ATM NDUFA6 AIRE SEC23B MPV17 RFX5 CEP164 HMOX1 FH PUF60 DNAJC19 ABCB11 ALG1 NDUFA1 CHD7 BBS1 NDUFA11 CD28 JAM3 CCDC40 MC1R TG EOGT TSC1 CTCF MT-TK GABRD ADK SLC20A2 RSPH3 ITK KIF20A APOA1 HYDIN CD27 DPAGT1 PLPBP PDGFRL NOS3 DNAH11 CCDC47 SPAG1 FANCL IL36RN ATP11C MT-ND2 KLF11 COG7 PEX7 IL12A-AS1 RELA ERBB3 TJP2 CD81 ATP6V1B2 WRAP53 STAT3 DNAAF1 MYRF MRPL44 PHKB CLCA4 CP ALG2 TNNT2 KLRC4 ACVRL1 TELO2 PALLD FADD GCLC NDUFB11 FLI1 GYS2 TIMMDC1 NDUFAF8 TMEM70 MT-CO3 ASL CYP7A1 AP3D1 LARS1 ARVCF BPGM KIAA0586 INVS COG1 FOXRED1 SKI RBPJ VPS33B HBG1 NDUFAF4 CISD2 NR1H4 CCDC103 RNASEH2B UBE2T MET GLRX5 VPS45 USB1 CDKN2C MYH9 SPIB RFC2 NLRC4 KRT16 NCF2 MCCC1 ACOX1 SCNN1G BBS2 MRE11 XK MYCN JMJD1C UCP2 TRIP13 JAK3 CARD11 MYPN IDS ELP1 CARS2 GNMT MKKS NDUFAF2 LMNB2 POLR3A SF3B1 CCBE1 ALG6 PIGS MFN2 SEC24C TMEM107 ABL1 TRMT10C XYLT1 DNAAF3 SLC25A4 FLNC TNFRSF1B TTC8 FANCE CYBA NDUFAF5 RPSA MT-TE IGF2R PARS2 LHX1 RPGR SCARB2 GNS APOB BLVRA SAMHD1 CFAP300 XPNPEP3 CYP19A1 RHBDF2 HBA1 FARSB NPC2 NRXN1 ZMYND10 MLXIPL MT-ATP6 CYP27A1 IKZF1 UBAC2 DNAI2 NEK10 APOC2 ATP6AP1 SLC11A2 PNP HLA-DPA1 NEK8 LRRC8A SHPK TLR4 RMND1 FAM111B BICC1 ETFB RBCK1 GTF2I BMPER KIF23 DNASE1L3 IL10 IFNGR1 COG5 NPM1 SOX10 VPS13A GNA11 FGG TTC12 BARD1 PTPN22 ABCG5 PTPN3 GATA2 LPL LONP1 KRT17 FANCC GFM1 TBL2 SIK3 POLD1 TMPRSS6 RBM8A RFX6 DRC1 TCF3 IL1RN TMEM231 CCDC114 CD55 ZMPSTE24 FLNB KRT6B TBXAS1 FDX2 HP_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOMITING PPM1D SHANK3 ABCC8 KMT2E SLC6A8 NDUFAF5 BCKDHB KCNJ1 CPT2 ELP1 NEUROG3 RANBP2 CPOX NAGS SLC25A13 MVK MT-CO1 MPI SLC22A5 STK11 MT-ND2 CPS1 POLG SCNN1A ALG11 NDUFV1 MT-TF CTNS RELA OTC PNPLA8 MT-ND3 PCCB ACAT1 ATP6V0A4 CLMP BOLA3 DBT SERPING1 TYMP MT-TC SCNN1B HSD3B2 MTRR PDCD10 SAA1 HADH DBH ACY1 NFIX MT-TK MT-TL1 MT-ND1 MT-ND4 NDUFS3 RRM2B NDUFV2 ALDOB ALDH18A1 HIBCH PHGDH ADNP COQ2 NAXD MT-CO3 MT-TQ MPV17 RET MMUT SLC7A7 NDUFB11 TCN2 CFI NDUFS1 MRAP FARSB SUGCT PDSS2 MT-CYB PCCA MT-TV CYP11A1 TIMMDC1 NDUFAF8 NDUFB10 HMGCL KCNJ11 ASL ACADVL MT-ATP6 ACADL F12 TNFRSF1A CYP11B2 MLYCD DGAT1 ATRX OPLAH GLA MTHFD1 NDUFS6 SSR4 EGFR FOXRED1 CDH23 NBAS MT-TS2 CCM2 GALC NDUFS4 NDUFAF4 AQP2 GK BCKDHA CACNA1A SPP1 ETFA TXNRD2 ASS1 FBP1 MET MRPS7 CTNNB1 PMM2 COA8 AVPR2 MT-ND5 ESR1 TP53 MT-TH NDUFS8 NDUFAF3 TMEM126B ACSF3 STAR PIGY GALT RARS1 AIMP1 ETFB HLCS MMAA MT-CO2 CDK8 HNF1A HFE SAR1B ALG3 MT-TW MCCC1 GCDH FLNA DGUOK MC2R MMAB ALAD DHCR7 ACP2 BRAF SCNN1G STAT4 NDUFA6 SLC25A15 D2HGDH ST3GAL5 INHBA IVD NDUFS2 CFH UCP2 APC NNT HNF4A ARG1 SYT1 TNF NDUFA1 ACADM MSX2 NDUFA11 IRAK1 MEN1 CYP24A1 ALX4 ZEB2 LPL HMGCS2 MT-ND6 SLC12A3 PPOX ETFDH NDUFAF1 SLC1A3 ASPA SMPD1 AVP NDUFAF2 C11orf95 FOXP3 NR3C2 HMBS DLD HELLPAR ALPL SLC12A1 NDUFB3 OXCT1 NDUFB9 GHSR AIP HPRT1 ACTG2 PSAP EDNRA TRMU CD46 CD55 PYCR2 KRIT1 CYP11B1 ACAD8 ALG8 BTD GALE MCCC2 NDUFS7 LIPA NUBPL HP_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIARRHEA ALAD CCDC47 CBL KCNJ1 TTR RAG1 SCN11A SLC46A1 ELP1 NEUROG3 BLNK CPOX SGSH SLC25A13 MVK IKBKB CD79A MPI POLG CD19 MT-TF ATRX SLC39A4 RIPK1 LCT IGHM CLMP CD79B SYNJ1 TTC7A UCHL1 SDHD SAMD9 PTEN ZAP70 RAG2 PKP1 SERPING1 CDKN1B TYMP PIGT TTC37 CYP11B2 SCNN1B ADAM17 PHKB WNT2B SNCA SAA1 HADH BTK HYOU1 GNS DBH LRBA MT-ND1 MT-ND4 RRM2B COG4 ALDOB SCNN1A CD40LG SMARCD2 STX3 ABCB11 CFH ACVRL1 TSHR NCF4 NAXD AKR1D1 PODXL SLC5A1 PALLD HLA-B MT-TQ CDKN2A RUNX1 EDN3 MPV17 NOD2 CTLA4 F5 SLC7A7 JAK3 TCN2 MEN1 IL21 ICOS MYO5B ITGA2 MRAP RFXAP LIG4 HSD3B7 LRRK2 SUGCT MYD88 B2M GINS1 IL7R PALB2 ITGA2B ANTXR2 NAGLU OTULIN KIF1B KCNJ11 IL21R KRAS MT-CO3 SP110 CYP27A1 SMAD4 AGA GP1BB NHLRC2 TNFRSF1A DAXX HGSNAT ABCC8 MLYCD IKZF1 DGAT1 VPS13C PTPRC SCN9A TFRC OPLAH GLA CARMIL2 EGFR ADA ABCB4 SLC9A3 PARK7 HTRA2 CYP7B1 MT-TS2 SI ITCH AK2 IL2RG DCLRE1C ASXL1 SPP1 TREH TXNRD2 SEMA3D FBP1 ERCC2 LRRC8A TLK2 CDKN1A ATP8B1 ACAT1 PMM2 EFL1 GDNF C5 SLC12A3 CDKN2C MT-TH NAGS DDC CD247 GFI1 BMPR1A ACSF3 STAR RFXANK GALT ITGB4 FOXP3 PINK1 ETHE1 NLRC4 CD3D PLEC PIK3R1 ENG ELANE WIPF1 CPT1A SRP54 TMPRSS15 HNF1A SAR1B GUCY2C STAT1 PPP2R5D EDNRB ALG3 TET2 KIF23 WAS SLC10A2 TGFB1 CD3E SPINT2 MC2R EPCAM DNASE1L3 RNF113A CLCNKB ITGA6 IFNGR1 COG6 CIITA STAT4 AIRE RNF168 GP1BA RMRP SKIV2L G6PC RFX5 TNFRSF13C MGME1 DNMT3B DMPK UCP2 BRCA1 APC NNT HNF4A TP53 TKFC HEXB MT-CO1 NSUN2 CFHR1 MT-TW IDS MT-ND5 ACADM CHD7 ATP7A IGLL1 IRAK1 PCSK1 TNFRSF13B HPS1 PRKN HMGCS2 MT-ND6 TCIRG1 SRSF2 CR2 BRCA2 IL2RB IL10RA PLVAP HMGCL RET GREM1 ITGB3 TERT MEFV ECE1 AVP GATA6 NR3C2 HMBS RECQL4 SEMA3C DES AP1S1 SLC12A1 IL6ST RFX6 TCF3 USP7 MCM6 ARX LIPA MT-CO2 BLM NRTN SLC26A3 IGKC IL2RA LCK ACTG2 NBN CASP8 SCNN1G CD109 MAOA CD55 IL6 IDUA ALG8 BTD SLC19A2 SON CDKN2B MT-TL1 POLA1 CFHR3 ASAH1 DNAJC6 HP_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHAGIA DNAJC13 LBR NEB FMR1 KCNAB2 GBA ATXN8OS SLC6A9 ADCY6 SACS TBP SYT14 RRM2B TK2 PRPH GNAQ SLC52A3 TYMP CHMP1A MAPT CHD7 PDP1 SNCA ADD3 CLCN1 PCNA CCR6 CHRNA1 GFPT1 VAPB NCAPG2 NR4A2 MEGF10 SLC5A7 VPS13A TGM6 NUP62 ATP1A3 GIGYF2 COLQ HLA-B ATXN3 SCO2 NDUFS2 KMT2A SETBP1 CACNA1G SEMA3E POLG COL13A1 MYMK REEP1 GCH1 STUB1 MECP2 COL7A1 PABPN1 HLA-DQA1 IRF5 TRAPPC12 SDHD DNAJB6 FTL KIAA0319L HGSNAT COQ4 FLCN TPM2 EXOSC9 LRP12 SCARB2 SQSTM1 PLP1 WFS1 LAMA2 ATXN1 MYH8 DDHD2 SKI VARS1 GEMIN4 AR NECTIN1 SELENON TAF1 KY PUS3 MYO9A MMP1 CNTNAP1 PLEC DGUOK FARS2 PFN1 QDPR TUBB4A UBQLN2 MT-ND5 CHCHD10 ZFYVE26 NPC1 HLA-DQB1 TBC1D23 C9orf72 ALS2 TARDBP SCN4A RARS1 PSAP SLC52A2 AGRN ACTA1 SNAP25 MYORG MACF1 SLC9A6 CAV1 SNCAIP LRRK2 PRKCG ATP7B RNASEH1 ANKRD11 SPG7 MAP2K2 ATXN2 CHMP2B PYGM CHRNE HLA-DRB1 PLAA NOP56 NEK1 ERLIN2 DMPK MSX1 SOD1 DKK1 STXBP1 CARS2 SLC25A1 ECM1 SLC19A3 TIMM8A TPM3 RERE IRF2BPL PTS LMNB1 KCNK9 ATXN7 RYR1 ASPA FBXO7 PRKRA KIT MFF MT-ATP6 SDHB MT-TL1 NDUFS1 KCNC3 TANGO2 MT-ND3 SLC18A3 MT-TW CDH1 MT-ND6 FA2H HPCA NOTCH3 PIGN ASCC1 NDUFAF3 HPRT1 CAVIN1 NGLY1 SPECC1L GDAP2 ALDH18A1 CTNS MGME1 EIF4G1 DLX4 GRHL3 SYT2 LAMB2 DNM1L SLC25A4 SON POLR3A TUBB6 SDHC BRAF OPA1 DCTN1 IRF6 LIFR TRIP4 KLHL7 NEFH VAMP1 ATXN10 NDUFB8 ADH1C SLC1A4 PDGFRA UBTF TOP3A SURF1 IDH2 FUS PRDM16 PLA2G6 NEUROD2 MATR3 PANK2 VAC14 GNS SPG11 GNAO1 KLHL41 GALC MT-ND1 ADNP PIK3R5 XRCC1 HTT CHRND ACOX1 LINGO1 RHBDF2 NPC2 YY1 NRXN1 MYOT ADAR COQ2 POLR3B KIF5A AFG3L2 MED17 CYP27A1 FXN TWNK IKZF1 CYP7B1 TTBK2 SPG21 CARMIL2 PMP22 POLG2 GBA2 FLAD1 GRM1 VPS35 CHAT GJB1 CDC73 SERPING1 TP63 SYNJ1 REPS1 ATP7A REV3L NONO GRIN2D MYH7 EPRS1 DLG1 PIGA NDUFAF2 ARHGAP29 CRYAB DYSF ATN1 CACNA1A CRLF1 PLXND1 B4GALNT1 YARS2 MID1 LMX1B SLC25A22 TBK1 MECR KBTBD13 ATP13A2 IRX5 NDUFA6 PSEN1 APP PNKD GRHL2 LMOD3 HOXB1 PRPS1 NDUFS3 NF1 KLHL40 MYPN SMC1A KAT6B ASAH1 RLIM ACTB PUF60 FRG1 MPZ SPART ITGB4 PRNP NOS1 ARX C19orf12 EBF3 IDH1 NDUFA9 MT-ND4 FBXL4 CNTNAP2 GUCY1A1 CCN2 OPTN UBB MT-TK BMP4 GABRD TBCD SETX FERMT1 MT-ND2 VCP PEX16 GMPPA SDHA ACTG2 MT-TV DAB1 PYROXD1 C12orf65 SIK1 RAI1 PDE8B SCN3A KCND3 GLUD2 HP_NAUSEA_AND_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA_AND_VOMITING PPM1D PFN1 SLC6A8 LIMK1 KCNJ1 BIRC3 CPT2 ELP1 NEUROG3 CPOX MVK MT-CO1 SLC22A5 STK11 MT-ND2 EPCAM NF1 MEFV NDUFV1 ELN IL12A-AS1 CTLA4 RELA PON1 PNPLA8 PCCB ATRX BOLA3 UCHL1 MYLK BRCA1 PPARGC1A TYMP MT-TC CYP11B2 HSD3B2 MTRR SAA1 HADH GLA DBH ALG11 SERPING1 CCR1 ACY1 BRAF NFIX ITGA6 MT-TK MT-TL1 MT-ND4 CCR6 MLH3 NDUFS3 MSH2 NDUFV2 KLRC4 ATP7A KCNQ3 PHGDH POLG PALLD HLA-B MT-TQ CDKN2A RUNX1 AKT1 MPV17 RET SLC7A7 SHANK3 NEK1 NDUFB11 CFI MRAP OPTN SUGCT PDSS2 PCCA PALB2 TIMMDC1 NDUFAF8 NDUFB10 C9orf72 IRF5 UNC13A MT-CO3 ASL ACADVL SDHA SMAD4 KIAA0319L F12 DAXX C4A MLYCD LIPA VPS13C SCN8A AQP2 OPLAH NDUFS6 FOXRED1 NBAS SLC25A11 ERBB4 CCM2 UBQLN2 GALC NDUFAF4 SQSTM1 SPP1 SEMA3D HLA-DPB1 PRRT2 SUFU MET ACAT1 PMM2 AVPR2 GTF2IRD1 MT-ND5 ESR1 GDNF TP53 MT-TH NDUFS8 NAGS NDUFAF3 NF2 FAS TMEM126B CCNF DLEC1 STAR PIGY RARS1 SDHD IL12A RFC2 SMO DLST MMAA CAV1 HNF1A MT-TW DCTN1 MCCC1 GCDH DGUOK BAP1 ALAD TREM2 CLIP2 SCNN1G STAT4 KCNJ11 SLC25A15 HLA-DRB1 ST3GAL5 NEFH IL23R SOD1 RAB27A ERAP1 FOXP1 IVD NDUFS2 CFH MT-TS2 MGME1 UCP2 PPOX VCP TARDBP SYT1 TGFBR2 MSH6 PMS1 TNF SMARCB1 ACADM MSX2 SDHB IRAK1 MEN1 CYP24A1 PRTN3 UNC93B1 ALX4 ZEB2 MDH2 HMGCS2 MT-ND6 DNMT3A MT-CYB BRCA2 ETFDH HMGCL ASPA CHMP2B SMPD1 AVP NDUFAF2 C11orf95 FOXP3 CFAP410 RNF6 NDUFS1 MT-ND3 SEMA3C ALPL SLC12A1 RECQL4 NDUFB3 RPS20 OXCT1 MT-CO2 ACTG2 GHSR PTEN MYC HPRT1 PAH TRMU EPHA4 CYP11B1 PYCR2 SAR1B MMUT ALG8 NDUFS7 SCNN1B MT-ND1 ABCC8 CBL KMT2E KIT NDUFAF5 BCKDHB DAO SLC1A3 RANBP2 SDHAF2 SLC25A13 VHL MPI PDGFRA PMS2 CPS1 SCNN1A MT-TF PON2 CTNS CTNNB1 OTC ATP6V0A4 CLMP MYH11 SYNJ1 DBT HNRNPA1 HLCS PDCD10 SNCA PIK3CA ITGB4 SDHC MALT1 FSHR RRM2B ALDOB ALDH18A1 FUS HIBCH FH SCN2A ADNP COQ2 NAXD PODXL GLE1 WWOX EDN3 MATR3 PON3 TCN2 BCL10 RHBDF2 FARSB LMOD1 LRRK2 MT-TV CYP11A1 GLT8D1 KRAS MT-ATP6 ACADL TNFRSF1A IKZF1 DGAT1 UBAC2 ANXA11 MTHFD1 SSR4 EGFR EPAS1 CDH23 SEMA4A PARK7 HTRA2 BAZ1B PDGFB EWSR1 KCNQ2 NDUFS4 TLR3 TAF15 TRAF3 GK BCKDHA ASXL1 CDC73 CACNA1A ETFA ATXN2 TXNRD2 TRAF7 ASS1 FBP1 HLA-DPA1 SLC46A1 TLR4 MRPS7 COA8 SLC12A3 NLRP3 FAN1 ACSF3 GALT PINK1 AIMP1 TICAM1 ETFB TERT CDK8 HFE GTF2I EDNRB ALG3 BMPR1A FLI1 TET2 EXT2 FLNA TBK1 MC2R MMAB DNASE1L3 DHCR7 ACP2 CLCNKB IL10 NDUFA6 D2HGDH INHBA FIG4 VPS13A PRPH WT1 APC NNT HNF4A ARG1 PTPN22 NDUFA1 CHCHD10 TMEM127 GATA2 NDUFA11 MLH1 PRKN LPL SRSF2 NDUFAF1 ANG CCN2 ECE1 VAPB NR3C2 TBL2 HMBS DLD HELLPAR MAX KIF1B NDUFB9 AIP NRTN PSAP KCNA1 EDNRA SMARCE1 CD46 KCNJ5 CD55 CACNA1D KRIT1 ACAD8 BTD GALE MCCC2 DNAJC6 NUBPL HP_NAUSEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA LPL MDH2 SDHD DNMT3A PINK1 RET LRRK2 ETFDH ETFB SLC1A3 DLST SDHB SDHAF2 FSHR VHL ALDOB POLG HMBS NF1 EXT2 SDHA HELLPAR VPS13C MAX KIF1B SYNJ1 UCHL1 GLA TYMP EPAS1 INHBA PARK7 SNCA HTRA2 SAA1 SLC25A11 KCNA1 CFH EDNRA MGME1 CYP11B2 RRM2B CD46 KCNJ5 APC SERPING1 ETFA CYP11B1 CACNA1D SDHC FH PODXL TNF ESR1 TMEM127 TP53 SLC7A7 NAGS CFI PRKN DNAJC6 HP_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTIPATION SLC26A4 PPM1D ALAD NALCN VPS11 CAMTA1 SDHB KIT DNAJC13 SLC6A8 LIMK1 SOX3 KCNJ1 TTR SCN11A BIRC3 ELP1 NAB2 KCNAB2 CPOX GBA ADH1C CHST14 AFF4 NGLY1 PDGFRA PMS2 TCF4 EPCAM POLG ELN MT-TF CTNS SIX3 PCCB TBP PHOX2B AVPR2 SYNJ1 ATRX RRM2B ATXN8OS UCHL1 MED25 BRCA1 RAI1 PROP1 PRDM16 KRT14 SCNN1B SMO KMT2A WASF1 SCN9A SNCA TSHR CDKL5 NFIX SDHC MALT1 DHPS MT-ND1 MT-ND4 MLH3 MSH2 POLG2 NR4A2 HESX1 ALDOB RREB1 MT-TE UBE3B ADNP LRIG2 PODXL WDR26 GIGYF2 GRIN1 MT-TQ EDN3 LHX3 MT-TK RET P4HTM BCL10 MRAP KCNH1 MDH2 COQ2 CAMK2B SRCAP GATAD2B TBCD LRRK2 RERE NKX2-1 B2M NRXN1 PCCA FLI1 UBE3A MECP2 COL7A1 UFC1 MLXIPL MITF TGFBR2 CHD8 MT-CO3 SALL1 PAX8 GDNF TRH UNC80 TNFRSF1A MLYCD MNX1 ARVCF VPS13C AQP2 KDM1A NKX2-5 DSE UBE2A IGHMBP2 DDHD2 IQSEC2 SKI SEMA4A PARK7 HNRNPH2 HTRA2 BAZ1B SCNN1A MED13 MT-TS2 PROKR2 ASCL1 TAF1 WAC CISD2 VPS35 EXT2 CDC73 MMP1 SOX2 TXNRD2 SEMA3D OCRL ZSWIM6 CHCHD2 TLK2 DUOXA2 GP1BB HNRNPK GTF2IRD1 PIK3CA UFD1 SLC12A3 MT-TH FAN1 DDC FGF12 FLNA MAPT STAR DACT1 PINK1 MBD5 TWNK RFC2 ATN1 TRIO SOX10 SCN10A POU1F1 ADAT3 LHX4 HFE GTF2I SNCAIP TPO LMX1B EDNRB BMPR1A ATXN2 CACNA1S GJC2 FOXP1 DPF2 EP300 HPSE2 TSHB VANGL1 MC2R FOXE1 DEAF1 DHCR7 CLCNKB FGFR1 BRAF CLIP2 POGZ COMT DDOST SLC5A5 CASR SH2B1 JMJD1C TCF20 PIGV STAT6 PCGF2 DMPK DUOX2 HIRA PPOX APC SLC6A3 NNT MRPS34 STXBP1 FOXG1 GLI2 MT-CO1 SPART THRA MSH6 WFS1 PMS1 CREBBP MT-TW OTUD6B PRNP TYMP MT-ND5 UGP2 FOXA2 TBX1 CHRM3 MLH1 PRKN FLII ZEB2 MT-ND6 KRT5 TH PACS1 KRAS ARNT2 IYD TG MT-TL1 MED12 MEFV SMPD1 CNTNAP2 ECE1 TBL2 OTX2 HMBS SIK3 CSNK2A1 SEMA3C DES SETD5 ALPL LMNB1 SLC12A1 GABRD RPS20 USP7 PEX16 MT-CO2 PIGS NRTN ABL1 KCNJ18 SDHA ACTG2 CAVIN1 FTL SEC24C HIVEP2 MAGEL2 EIF4G1 TRHR SLC25A4 SPATA5 SCNN1G ARID2 CD96 GLUD2 DNAJC6 GABRA3 HP_GASTROESOPHAGEAL_REFLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROESOPHAGEAL_REFLUX PPM1D DNM1 SHANK3 CCDC47 CTBP1 COL13A1 DHCR7 LIMK1 VAMP1 LBR ELP1 SCN3A KCNAB2 GPHN SLC1A4 SLC13A5 AFF4 SEC63 FOXG1 FGFR3 ACTL6B POLG TCF4 COG7 ELN CNKSR2 STAG1 SMG9 SLC1A2 ATP6V1A ATRX RRM2B AMER1 NIPBL SAMD9 RAI1 SMC1A SALL1 TYMP PRDM16 CHMP1A FGFRL1 SCN8A FAM13A STN1 DSP SYNJ1 GMNN CDKL5 WWOX NFIX CCR6 TRAK1 POLG2 PRKCSH RREB1 ALDH18A1 MCEE SLC5A7 ARFGEF2 PHGDH SEMA3E NUP62 ADNP NTRK2 LONP1 WDR26 CHD7 PHOX2B ORC6 SMC3 GABRA2 RET NALCN KMT2A HLA-DRB1 SLC35A2 KAT6A TFAP2A CAMK2B RHBDF2 FARSB HDAC8 FLNA RERE MYMK ASXL1 NRXN1 ADAR MECP2 MAP3K7 TMTC3 TOP3A MLXIPL CACNA1B ASCC1 HLA-DQA1 IRF5 SFTPC ABCA3 SLC19A2 KIAA0319L SKI RAD21 CNTNAP1 PIGN GABBR2 ARVCF PAK1 FLCN KIAA0586 FCSK SFTPA1 KLHL7 LAMA2 SSR4 IQSEC2 SLC2A10 GEMIN4 HNRNPH2 BAZ1B RTEL1 TAF1 CYFIP2 GALC ASCL1 EXT2 SFTPA2 NTNG1 TSPYL1 LRP5 OCRL ZSWIM6 ATP7A SLC46A1 NEXMIF TBX4 AP3B2 EEF1A2 GP1BB KCNB1 ATP11A LTBP4 NEDD4L TECPR2 NONO GTF2IRD1 ADAMTS2 UFD1 SHROOM4 LETM1 MUC5B STXBP1 DDC TRIP4 NUS1 HLA-DQB1 CACNA1A RPL10 MYO9A PORCN SH2B1 TWNK RFC2 ATN1 SLC6A5 AGRN GABRG2 CTHRC1 CRLF1 GRIN2D ADAT3 SNAP25 SYT1 SLC9A6 CAV1 GTF2I TWIST1 MID1 ATAD1 ARNT2 NUP214 HRAS CLTC PIGT NSD2 DEAF1 PIEZO2 TERC BRAF CLIP2 PSPH NPHS1 POGZ COMT NECAP1 SEC23A SZT2 DDOST JMJD1C EHMT1 AARS1 FMR1 WNK1 UBA5 KIF1A SOX5 ARV1 PCGF2 HIRA SLC6A3 MRPS34 PUF60 RETREG1 RNF125 YWHAG CPLX1 PGM3 NOS1 SLC25A1 ORC4 TBX1 PARS2 TBC1D24 KAT6B EBF3 ABCD4 ORC1 PYCR1 WASHC5 FLII SETD5 CCDC22 PACS1 TRAPPC12 KCNA2 PPP3CA PARN MED12 ASPA FBXL4 GABRB2 SLC25A24 CNTNAP2 CCN2 CHAMP1 CHAT MT-ATP6 TBL2 CTCF GLRB ARF1 SLC18A3 PIEZO1 GABRD GLRA1 USP7 ERMARD SCN9A FGF12 CSPP1 DHDDS CLCN4 PSAP FBN1 SEC24C GABRA5 CAMTA1 HIVEP2 MAGEL2 STAC3 HCN1 SYT2 SNRPB MSR1 TERT TRMT10C SLC25A4 CDC6 SON MAP1B SYNGAP1 DPP9 MEIS2 ARID2 HP_ANAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_ATRESIA RSPO2 KMT2D FANCE WNT3 DACT1 ICOS FANCM ERCC4 POMT1 GATA1 FANCL NFKB1 WNT7A RECQL4 IFT80 TWIST1 MID1 RFWD3 GDF6 FKRP FGFR2 SALL4 CDH1 SPINT2 BRIP1 MS4A1 COMT EMC1 AMER1 CD81 ZIC3 GLI3 SALL1 COX7B JMJD1C VANGL1 CHD7 WDR35 FKTN CD19 HIRA RAD51C PQBP1 BRCA2 RREB1 GDF3 FANCF LONP1 NAA10 TBX3 GRIP1 TNFRSF13B WASHC5 DCHS1 MKKS TBX1 WDR34 BRCA1 CHRM3 TNFRSF13C SEMA3E HOXD13 CCDC22 CEP120 HSPA9 FANCG FUZ BCOR MKS1 MAD2L2 SLX4 MED12 FANCC FRAS1 WDR60 FREM2 FANCB PPP2R3C HCCS DYNC2H1 FANCI TCTN3 MNX1 PIGN FANCD2 ARVCF LARGE1 MEOX1 FANCA CCNQ TNFSF12 ABL1 CR2 RAD51 FOXF1 USP9X TWIST2 UPB1 EXTL3 INTU XRCC2 CDC45 UBR1 NBN SPECC1L SEC24C NFKB2 B3GLCT DPYS KIF7 NDUFB11 PIGO POMT2 UBE2T PRKCD GP1BB UFD1 PALB2 KDM6A THOC6 PITX2 CTNND1 HP_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALABSORPTION KMT2D CYBA CCDC47 CBL PRSS1 LIMK1 SLC46A1 AMACR BLNK NOP10 CD79A PEX16 PMS2 SPINK1 EPCAM POLG LIG4 MEFV ELN IL12A-AS1 EPHX1 SLC6A19 SLCO2A1 LCT IGHM CLMP PRSS2 WRAP53 SLC29A3 CTNNB1 CLCA4 NEUROG3 SAA1 PEX1 HYOU1 GLA PNLIP CCR1 PEX5 CBLIF CCR6 BAAT MLH3 PTF1A MSH2 DCTN4 KLRC4 ATP7A ABCB11 PEX6 MT-TE PEX26 AKR1D1 SLC5A1 CFTR RUNX1 MT-TK PEX19 HLA-DRB1 SH3KBP1 CYBC1 MTOR SRCAP HSD3B7 MYD88 B2M PEX10 ANTXR2 PTRH2 HELLS TGFBR2 KCNJ11 RECQL4 PEX12 C4A LIPA UBAC2 NCF4 SLC39A4 SLC2A2 ABCB4 SEMA4A DNMT3B F5 BAZ1B RTEL1 CYP7B1 SI UBR1 CISD2 AK2 ASXL1 MTTP OCRL RFXAP ERCC2 SRP54 LRRC8A SHPK TINF2 ATP8B1 TLR4 TGFB1 GTF2IRD1 PIK3CA EFL1 ARX SBDS DMP1 FAN1 FAS RFXANK PEX14 IL12A LPIN2 RFC2 IRF5 GPC1 PEX11B CAV1 SAR1B GTF2I NCF2 XRCC4 BMPR1A TET2 ABCC8 SLC10A2 IL10 CLIP2 CIITA NPM1 PMPCA AIRE STAT4 ZFP57 CDCA7 IL23R LBR DNAJC21 ERAP1 TRMT5 COX4I2 VPS13A RFX5 ENPP1 ADAMTS3 ZBTB24 NSUN2 MSH6 WFS1 PMS1 PGM3 TYMP TJP2 CD79B HBB IGLL1 TERC PCSK1 CTRC STX1A MLH1 CYBB SRSF2 TERT CYP27A1 HLA-B KRAS RMRP MT-TL1 ACOX2 PARN FOXP3 APC TBL2 PLAGL1 PEX13 RFX6 CCBE1 RPS20 TCF3 JAK2 MCM6 PIK3R1 AGA NCF1 NHP2 SLC7A7 MPI PEX3 HPGD EIF2AK3 BTK SPINK5 CD55 HYMAI USB1 CTC1 PEX2 FLNA CCN2 FAT4 DKC1 KDM6A HP_ANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_STENOSIS SALL4 KMT2D SEMA3E SMO CHD7 DCHS1 CDH11 CDC45 NBN SPECC1L LIG4 FRAS1 FAT4 CCNQ FREM2 PIGO FREM1 NSUN2 FOXC1 PITX2 MNX1 GRIP1 PIGN SNRPB KDM6A MED12 TBX3 AMER1 RIPK4 SALL1 HP_ABDOMINAL_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_PAIN ALAD CBL CASR PRSS1 LIMK1 BIRC3 SPTB CPOX SDHB SDHAF2 ESR1 EPB42 VHL MVK SPINK1 SEC63 STK11 STAT5B PMS2 POLG EPCAM NF1 MEFV ELN IL12A-AS1 CTLA4 ATRX FUS GPR35 ELANE SDHD PTEN PRSS2 CPA1 BRCA1 PML ADA2 SERPING1 CDKN1B TYMP PIGT EPB41 CTNNB1 GNA11 TRPM4 SAA1 SCARB2 HFE GLA CCR1 MALT1 GPC3 MLH3 FSHR RRM2B MSH2 IL6 PRKCSH ALDOB KLRC4 SDHC FH DDIT3 PALLD HLA-B TCF4 CDKN2A RUNX1 EDN3 BCOR BRCA2 NOD2 NLRP3 ABCG8 MEN1 BCL10 CFI IRF2BP2 MRAP CEL ZBTB16 CLDN16 PALB2 KIF1B MITF CASK TGFBR2 KRAS FLT1 SDHA SMAD4 POU6F2 F12 TNFRSF1A DAXX C4A CORIN SLC40A1 MLYCD IKZF1 UBAC2 NUMA1 ABCC2 RARA OPLAH MST1 SPTA1 CFTR EPAS1 PTPN22 SEMA4A F5 BAZ1B SLC25A11 EWSR1 SCN5A SLCO1B3 TRIM28 FIP1L1 ASXL1 CDC73 WT1 SPP1 TREH TXNRD2 LRP5 SEMA3D HLA-DPB1 TP53 APRT HLA-DPA1 MET GYPC GCGR GBA MPL TSC2 CDKN1A TLR4 NPM1 ANK1 GTF2IRD1 PIK3CA GDNF SLC12A3 CDKN2C FAN1 PIGA FAS GFI1 STAR PIGY PORCN IL12A RET MMUT RFC2 SOX10 GNE DLST REST SRP54 BMPR1A TSC1 GTF2I GUCY2C PRKAR1A EDNRB FLI1 TET2 HLA-DRB1 MC2R DNASE1L3 CLCNKB NABP1 IL10 CLIP2 STAT4 MIF KIT RNF168 INHBA KCNN4 IL23R SLCO1B1 DIS3L2 ERAP1 FOXP1 HBB STAT3 CFH VPS13A PPOX APC TRIP13 NNT CDH23 HEXB CTRC TBL1XR1 MSH6 PMS1 PTPN3 TMEM127 IRAK1 EPOR PRTN3 SCN1B HPS1 MLH1 LPL MDH2 TCIRG1 SRSF2 DNMT3A G6PD BMP2 ECE1 NKX2-5 TBL2 HMBS POMT1 SLC4A1 ABCA1 SEMA3C HELLPAR MAX RPS20 PIEZO1 JAK2 MCM6 GHSR NRTN STOX1 H19 MYC ACTG2 SLC25A26 CD46 CD55 LACC1 CDKN2B USP8 NLRP12 HP_CHRONIC_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_DIARRHEA IL7R SRSF2 CCDC47 CBL LIG4 IL2RG B2M PIK3R1 WIPF1 ANTXR2 TERT IKBKB IL21R PPP2R5D TET2 SLC10A2 RNF113A IL6ST ZAP70 COG6 CLMP TFRC USP7 SAMD9 CR2 RAG2 PKP1 SLC39A4 WAS ADA RMRP IL2RA ETHE1 SAA1 ITCH LRBA CASP8 ASXL1 BTK COG4 TKFC IDUA HEXB NBN ERCC2 NSUN2 JAK3 SLC5A1 DCLRE1C RUNX1 SON CHD7 ATP7A RAG1 IL21 ASAH1 HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY ACD FANCE CYBA SDHB KIT LIMK1 SOX3 APC GPHN ARHGAP31 FANCL FGF20 NOP10 IFT80 STK11 RFWD3 PDGFRA TCF4 TGFB3 TGFB2 ELN BRIP1 FGFR2 GBE1 SAMD9 LAMA3 ZIC3 WRAP53 ADA2 CDKN1B CHD7 WDR35 NHP2 SDHC ACVRL1 PLA2G4A PHGDH SEMA3E FANCF PAH WWOX HLA-B POLR1D MEN1 CYBC1 RHBDF2 FANCG YY1 DOCK6 SLX4 COL7A1 RAD21 ASCC1 WDR60 FANCB SOX2 FANCI IKZF1 LIPA FANCD2 GREB1L DLL4 FANCA NCF4 CARMIL2 SLC2A10 LAMB3 FOXF1 RBPJ F5 BAZ1B RTEL1 PROKR2 XRCC2 KRT8 MMP1 TRAPPC11 ATP7A UBE2T ERCC4 NOTCH1 DSP TINF2 CDKN1A GTF2IRD1 ADAMTS2 CDKN2C DLEC1 RAD51 ITGB4 SMARCD1 FANCM PKHD1 RFC2 SLC6A5 PLEC CTHRC1 WNT7A GTF2I STAT1 LMX1B NCF2 GDF2 ATAD1 ATP7B STN1 ITGA6 FBN2 FGFR1 CLIP2 PSPH SLC30A10 HESX1 NPM1 MYCN CBS PDGFRB EFTUD2 TCOF1 FH SMAD4 JUP NOTCH3 DKC1 RAD51C BRCA2 LAMC2 TGFBR2 STXBP1 PGM3 POLR1C WDR34 BRCA1 TERC CYBB HOXD13 TERT ARNT2 RMRP PHKG2 MAD2L2 SIX6 FANCC PARN EOGT RNF6 TBL2 OTX2 GLRB DYNC2H1 KRT18 FERMT1 GLRA1 JAK2 PHKA2 ITGA8 NCF1 SDHA INTU SPECC1L TGFBR1 ENG USB1 RPL11 CTC1 MSR1 RET CDKN2B SMAD3 PALB2 BRAF HP_ESOPHAGEAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ATRESIA MYCN ITGB4 SEMA3E FANCL CHD7 ARNT2 SMARCD1 RMRP SOX3 EFTUD2 PLEC YY1 PROKR2 WDR35 SIX6 IFT80 SOX2 WDR60 OTX2 FANCB ERCC4 DYNC2H1 PAH FGFR2 ITGA6 FGFR1 WDR34 HESX1 HP_POOR_SUCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SUCK MYO9A MYL2 RHBDF2 PTS VAMP1 COL13A1 SNORD116-1 PEX2 AGRN ACTA1 NDUFB8 ASPA SNAP25 CHAT TRIO MT-TE UBB TALDO1 HRAS SLC25A22 TRMU SLC5A7 SLC18A3 DHCR7 BMP4 SNRPN PWAR1 SURF1 HADHA CDH1 TPM2 MSX1 PWRN1 USP7 NDN NDUFAF3 NECTIN1 PLAA TSEN54 PEX5 TPM3 CHRNA1 CNTN1 HACD1 PQBP1 TP63 CHRNE ITGA7 DLX4 ATP7A GRHL3 SIK1 SELENON HERC2 SYT2 HADHB MAP3K20 COLQ LAMB2 NPAP1 SLC52A1 MKRN3 MAGEL2 UGP2 NONO SLC25A1 TBC1D24 DLG1 RARS2 SNORD115-1 SMARCC2 SCO2 NDUFS2 IRF6 BRAF RERE HTRA2 ARHGAP29 HP_ABNORMALITY_OF_THE_RECTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RECTUM PIK3CA DACT1 SDHB KIT LIMK1 RFC2 INSR KLLN POLD1 KEAP1 LIG4 BMPR1A CDK8 RECQL4 STK11 GTF2I PDGFRA PMS2 CCNQ EPCAM SALL4 ELN SPINT2 VANGL1 RAC2 NCF1 COX7B CLIP2 NTHL1 PTEN SALL1 AXIN2 PIGV TCOF1 HCCS POLE SDHC TTC7A MLH3 MSH2 MSH3 ENG LONP1 NSUN2 MSH6 JAK3 NAA10 CFTR PMS1 CYBA POLR1C RAD51C POLR1D SEC23B MLH1 AKT1 RNF43 KRAS BCOR MUTYH NCF2 GREM1 MLXIPL TGFBR2 SMAD4 TBL2 IL10RB TCTN3 MNX1 FCGR2A ITGB2 RPS20 CYBB USF3 PIGN TGFB1 SEMA4A SDHA BAZ1B MKKS UBR1 CCBE1 DICER1 KIF7 FREM1 NDUFB11 LTBP4 GTF2IRD1 FAN1 RPS6KA3 SDHD HP_RECTAL_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_PROLAPSE TGFB1 BMPR1A LIMK1 RFC2 BCOR BAZ1B ELN INSR CCBE1 LIG4 MLXIPL STK11 GTF2I TBL2 NSUN2 NAA10 CFTR SMAD4 LTBP4 GTF2IRD1 CLIP2 FCGR2A RPS6KA3 PTEN HP_HIATUS_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIATUS_HERNIA COL5A2 GLIS3 SLC2A10 TP53RK TNXB NIPBL SLC6A5 WDR4 SPECC1L TCF4 GPHN NUP107 OSGEP CHST14 COL1A1 NUP133 ALDH18A1 ATAD1 GLRB COL5A1 ATP7A TGFB3 TPRKB ADAMTS2 WDR73 LAGE3 GLRA1 PORCN HP_INFLAMMATION_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE RFXANK MAP3K7 NLRC4 IL10RA WIPF1 BACH2 STAT1 FOXP3 RTEL1 FASLG ABCB1 WAS NOD2 TGFB1 IL10RB CASP10 XIAP FAS MASP2 RIPK1 IRGM ZAP70 COG6 RASGRP1 FERMT1 CIITA INAVA OPLAH GPR35 MST1 HLA-DRB1 CARMIL2 TTC37 SKIV2L SLC9A3 PLCG2 ARPC1B LRBA RFX5 HLA-B TNFAIP3 IL6 RFXAP NCF4 F13A1 PRKCD TCF4 RET POLA1 F13B IL21 HPS1 GPIHBP1 HP_PROTEIN_AVOIDANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_AVOIDANCE ASL SLC25A15 ASS1 CPS1 OTC HP_ANOREXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOREXIA STAR MECP2 MRAP SRSF2 CBL IL12A HLA-B MMUT CD3D MYD88 BRCA2 JAK2 HMGCL ZBTB16 PALB2 STAT5B CD247 PRKAR1A KRAS FLI1 TET2 HMBS SMAD4 MEFV CD3E MC2R DAXX C4A IL12A-AS1 ATRX ATM ALPL UBAC2 MLX NUMA1 NABP1 MMACHC AQP2 IL10 IFNGR1 IL12B RARA AVPR2 SLC4A1 HLA-DRB1 SLC39A4 PML STAT4 MMADHC PTPN22 IL23R HLCS CBS ERAP1 SCARB2 GLA STAT3 CALR CCR1 MPL FIP1L1 BRCA1 ASXL1 NNT TP53 CCND1 ARG1 KLRC4 TXNRD2 TBL1XR1 SLC46A1 GBA PALLD TLR4 NPM1 SLC19A2 CDKN2A ACAT1 RUNX1 BCOR TGFB1 PTPN3 FAS IRF2BP2 HP_ESOPHAGEAL_VARIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_VARIX PHKA2 RBPJ CBS PKHD1 F5 DOCK6 PHKG2 KRT8 SMAD4 ACVRL1 ARHGAP31 DLL4 NOTCH1 EOGT ENG GDF2 ATP7B STN1 KRT18 LIPA SLC30A10 GBE1 JAK2 ADA2 HP_INTRACTABLE_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACTABLE_DIARRHEA TTC37 ITGB4 SKIV2L C5 EPCAM PLEC ITGA6 HP_ESOPHAGEAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STRICTURE LAMB3 IKZF1 COL7A1 HLA-B MMP1 NHP2 FERMT1 TERT DKC1 SAMD9 LAMA3 NOP10 LAMC2 HP_ZOLLINGER_ELLISON_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZOLLINGER_ELLISON_SYNDROME MEN1 PIEZO2 CDKN2B CDKN2C DAXX ATRX CDKN1B CDKN1A HP_HYPOTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHERMIA UQCRFS1 DBH MICOS13 TBCK HLA-DRB1 MT-TV HMGCL SCN10A MT-ND4 TSPYL1 ATP7A MT-TL1 ACADVL SCN9A MT-ATP6 BTNL2 PAX8 MT-ND1 DGUOK ACADL SCN11A MT-ND3 MT-TK MT-TW MT-ND5 SLC25A20 P4HTM MT-ND6 ACADSB MT-ND2 DDC HP_HEAT_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAT_INTOLERANCE MAP2K2 EDARADD SHANK3 EDA MAP2K1 ORAI1 EDAR MBTPS2 NFKBIA KRT14 ITPR2 CLDN10 NECTIN4 HP_MALIGNANT_HYPERTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_HYPERTHERMIA NALCN CHRNA1 SCN5A CHRND CRLF1 STAC3 KDF1 ELP1 HSPG2 RYR1 EDAR MTMR14 CHRNG ABCA12 MYF6 EDARADD CACNA1S GCDH DNM2 TRAF6 MYH3 TRAPPC9 CLCF1 SCN4A BIN1 HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS OCRL CYP11B2 PC SLC4A4 UQCC2 GATA3 ALDOB HP_ABNORMALITY_OF_THE_GLABELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GLABELLA ALX1 FGFRL1 RSPO2 CTBP1 LETM1 NBAS CPLX1 NSD2 CNTNAP2 ZSWIM6 NRXN1 HP_MYOPATHIC_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHIC_FACIES KCNH1 CERT1 SGCB GLE1 ACTA1 HOXB1 MYH7 STAC3 SLC6A8 BCL11B MSTO1 NEB MYL1 TPM2 RYR1 TAZ SLC6A9 TANGO2 TPM3 CCDC174 DPM2 GFM2 PURA PIEZO2 KLHL41 LRP12 UBA1 SLC52A3 SPTBN4 VAMP1 EBF3 LAMA2 MYH2 GMPPB HP_LOWER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_SPASTICITY ERLIN1 HACE1 MICOS13 NDUFS1 NDUFAF6 LIPT1 AIFM1 SLC1A4 GBA2 DDHD1 POLG MAG NDUFS8 C19orf12 SACS NDUFA13 ECHS1 COASY SLC2A1 NDUFS7 ATRX MED13L WASHC5 INPP5K PNP ARX B4GALNT1 RAB3GAP2 REEP2 IBA57 SPG11 GALC PET100 ACTL6B ZFR AP4E1 ALDH18A1 NDUFAF2 AP4M1 KIF1A EDNRB SAMHD1 WDR45 GJA1 SPAST SDHB ABCD1 SLC33A1 RARS2 NT5C2 TRMT10A MECP2 KDM5C AP4S1 GATAD2B RNASEH2B UCHL1 SELENOI GBA REEP1 GBE1 MAN2B1 GJC2 L1CAM CAPN1 UBAP1 NDUFAF5 AFG3L2 SLC30A10 KIF5A PAX3 TREX1 BCOR PIGA CYP7B1 PNPLA6 DSTYK GAN ATP13A2 LAMB1 RTN2 CCT5 FA2H FBXO7 MTPAP NDUFV1 DDHD2 VPS37A WDR45B WDR48 FOXRED1 KY TOE1 ATL1 USP8 SDHA FARS2 TFG TECPR2 SDHD ZFYVE26 CPT1C ENTPD1 AP4B1 SLC19A3 BSCL2 ALS2 RARS1 TACO1 GPT2 AP5Z1 AIMP1 SDHAF1 TTC19 C12orf65 PRRT2 CLCN4 VAMP1 KLC2 IDUA VWA3B PPP1R15B NDUFA12 NDUFV2 PGAP1 HSPD1 CYP2U1 AMPD2 SURF1 ZFYVE27 SLC25A15 TBCE STXBP1 SPG7 PDHX ADAR IFIH1 SPART ATXN10 SETX PDHA1 ARSI SPG21 MT-ATP6 GOT2 COX15 NDUFS3 NDUFS2 NDUFS4 ERLIN2 DNAJC19 ARL6IP1 FLRT1 NDUFA10 RNASEH2C KIDINS220 VCP MTFMT SOX10 CCDC88C PEX16 NDUFA2 STUB1 MARS1 NIPA1 RNASEH2A NDUFA4 PSAP PEX3 PLP1 CACNA1D ATP6AP2 NDUFA9 DNM1L MRE11 OPA3 SLC16A2 OPA1 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT TARDBP L2HGDH GALC LIMK1 NEFH RFC2 CHCHD10 ATXN10 DCC AIFM1 ATXN8OS NTN1 PRKRA GTF2I KCNC3 RAD51 SLC2A1 TBL2 TBK1 ELN TREX1 L1CAM DEAF1 CLIP2 GAN SQSTM1 WASHC5 VCP FKTN PRPH SLC33A1 RAI1 FUS IQSEC2 MT-ATP6 BAZ1B DNAL4 NIPA1 MAPT SPG7 SPG11 VAPB DPYS PLP1 ATL1 SOD1 PLA2G6 ALS2 SLC6A3 RTN2 SPAST GTF2IRD1 SLC25A15 SLC19A3 CTC1 CPT1C C9orf72 DCTN1 FLII HP_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGIDITY PDGFRB DNM1 GBA DNAJC13 ATP13A2 CTSD HTT SCN3A FMR1 PSAP FGFR1 RANBP2 GPHN ATXN3 ADH1C SLC13A5 REEP2 CHMP2B DDHD1 PDGFB ACTL6B MYO5A CSF1R UBTF CNKSR2 PINK1 SLC1A2 VPS13C TBP ATP6V1A SYNJ1 RRM2B ATXN8OS UCHL1 GCDH MAPT TH PLA2G6 OPA3 SCN8A SNCA WWOX DHDDS TRAK1 NR4A2 LRRK2 JPH3 NUP62 NTRK2 SAMHD1 TNNT1 PODXL GIGYF2 WDR45 LOXL1 PRNP ABCA12 COQ2 NDUFAF6 GABRA2 GABRA1 ATP6AP2 COASY POLG ADAR GCH1 MECP2 CRYAB GJC2 CACNA1B HTRA1 SLC30A10 DAB1 DNAJC6 TREX1 ARX FTL GABRG2 ARSA MME AFG3L2 PRKCG FBXO7 LYST PARK7 POLG2 HTRA2 TMEM240 CYFIP2 GALC VPS35 RNASEH2B JAM2 MICU1 AP3B2 EEF1A2 KCNB1 TAF1 PANK2 STXBP1 CASK NUS1 CACNA1A PRKN CP TWNK INPP5K SLC6A5 SIL1 TUBB4A GRIN2D EIF4G1 SNCAIP ATXN2 DHCR24 ATAD1 CLTC BRAT1 PNKD RNU4ATAC LNPK NECAP1 SPR PTS SZT2 AARS1 PLAA ITM2B UBA5 ARV1 IFIH1 YWHAG PARS2 C19orf12 SLC19A3 RYR1 RAB39B PCDH19 KCNA4 KCNA2 KRAS PDE8B KIF11 PPP3CA ASPA GABRB2 SMPD1 HLA-DQB1 SLC20A2 MT-ATP6 SCN9A GLRB DCTN1 RNASEH2C TK2 PRRT2 GLRA1 FRRS1L FOXRED1 STUB1 FGF12 C9orf72 ACTA1 RNASEH2A KCND3 LDHA GABRA5 ATL1 SCN1A HCN1 SLC6A3 SLC25A4 SCN2A SYNGAP1 SCN1B GLUD2 HP_SPASTIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_GAIT BSCL2 ALS2 CACNA1G ERLIN1 AP5Z1 KCNA4 HSPD1 UBA5 REEP1 SACS GBA2 REEP2 DDHD1 ARL6IP1 SPART ALDH18A1 GJC2 KIF5A PLP1 KIF1A APC PGAP1 SPG7 CCT5 ERLIN2 VCP WDR26 CYP2U1 AMPD2 DSTYK WASHC5 RTN2 SLC33A1 SLC39A14 ZFYVE27 FBXO7 DDHD2 SLC25A15 KCNA1 ZFYVE26 C19orf12 MECP2 B4GALNT1 WDR48 NT5C2 NIPA1 ATL1 SPG11 CYP7B1 ZFR USP8 ATP6AP2 FARS2 ATAD3A VAMP1 TECPR2 SPAST ARSI MFSD2A CPT1C HP_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_ATAXIA DNAJC3 RRM2B HTT MARS2 MPLKIP FMR1 PSAP ATXN10 PMP22 TCF4 SPTBN2 NUS1 BEAN1 TPP1 GCH1 SACS HERC1 PDYN VPS13D ADSL GTF2H5 TH CAV1 PDP1 HSD17B4 ATXN3 TGM6 MT-ND1 NUP62 ATP1A3 WDR26 PRNP GTF2E2 PNPLA6 RNF113A GABRA1 CACNA1G RFXAP COQ2 ELOVL5 POLG UBA5 GPAA1 ADAR STUB1 UBE3A MAN2B1 ATCAY KCNC3 CAPN1 MT-ATP6 DNAJC6 PEX6 C12orf4 FXN PAK1 GABRG2 SCARB2 ARSA MME ATP13A2 AFG3L2 PRKCG ATN1 APTX PCNA RFC1 TWNK DOCK3 COA7 ALDH18A1 POLG2 GBA2 TMEM240 ANO10 SLC9A1 GRM1 ITPR1 PODXL SLC18A2 SYNE1 KIF1C TBP ATXN8OS ATAD3A TUBB4A UBTF TECPR2 MT-ND5 VLDLR MRE11 CUL4B BSCL2 GTPBP2 SLC9A6 POU3F4 PLD3 CTBP1 UROC1 OPHN1 PMPCA CACNA2D2 SIL1 TMEM106B CACNA1A ERCC3 SLC52A2 SQSTM1 SCYL1 SPG7 DKK1 STXBP1 RAB11B ARCN1 ERCC2 NOP56 RUBCN SLC19A3 FAT2 CLCN2 PCDH19 EEF2 TARS1 ATXN2 ABCA2 MT-ND4 HLA-DQB1 CHAMP1 TRIO ELOVL4 SCN9A MT-TL1 ERMARD TANGO2 RFXANK MT-ND3 MPZ TRPC3 MT-TK MTPAP MT-TW DEAF1 SETX MT-ND6 FA2H MT-ND2 PPP1R15B CIITA CCDC88C FGF14 BRAT1 IFRD1 RNU12 MT-TV GDAP2 WWOX GRID2 EIF2S3 MECP2 SCN1A GJB1 SYNJ1 FLVCR1 PEX10 PLA2G6 MAB21L1 RFX5 KCND3 PIGG SLC25A4 CWF19L1 SCN2A SCN1B AP1S2 LMNB2 HP_BRADYKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYKINESIA MAPT PDGFRB PANK2 PINK1 DNAJC13 VPS35 TWNK ATP13A2 HTT PLA2G6 SNCA TTC19 NEB FMR1 CSF1R EIF4G1 GBA ATXN3 ADH1C MYORG PDGFB SNCAIP LRRK2 ATXN2 KBTBD13 SCN1A TPM3 TBP SLC30A10 SPR GABRG2 SYNJ1 RRM2B ATXN8OS UCHL1 PTS ADGRV1 PRKAR1B HCN1 MYPN PPP2R2B SCN9A DHDDS KLHL41 SLC6A3 NR4A2 JPH3 SLC39A14 ATP1A3 PODXL STXBP1 GIGYF2 WDR45 PRNP C19orf12 COQ2 RAB39B PRKN DNAJC6 GABRA1 TH PCDH19 COASY POLG MECP2 GABRD PDE8B PARK7 HTRA2 FBXO7 PRKRA SLC20A2 STX1B KCNC3 ATP6AP2 DCTN1 FTL TK2 VPS13C TPM2 ATXN1 LYST ACTA1 DNAJC12 POLG2 GCH1 SCN2A ATL1 JAM2 CHCHD2 EARS2 SCN1B FARS2 TAF1 SLC25A4 GLUD2 HP_NEUROMUSCULAR_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROMUSCULAR_DYSPHAGIA MYPN ACTA1 MAPT KLHL41 COQ2 GALC FARS2 KBTBD13 TPM3 NEB TPM2 HP_BILATERAL_TONIC_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE GNB1 C9orf72 SCN2A EFHC1 PIGY CHD2 CLCN4 PDX1 ALDH7A1 ABCC8 PSAP STXBP1 SLC1A4 MT-CO1 SAMD12 POLG FTSJ1 MT-TF RORB GABRG2 KCNJ11 UPF3B SCN1A HERC1 ADGRV1 STAT3 RAB39B HCFC1 VAMP2 MT-TC GYS1 ARHGEF6 STX1B EPM2A JRK CACNA1H CLCN2 SCN9A DHDDS MT-TK MT-TL1 MT-ND1 MT-ND4 SLC9A6 CXorf56 GABRD PHGDH SIK1 CPLX1 RELN COQ2 LBR WDR26 SLC2A1 MT-CO3 MT-TQ ARX IL1RAPL1 CLN8 SLC25A22 GABRA1 CASK ATP6AP2 PIGQ CSTB PDSS2 MARCHF6 MT-CYB NEK1 MT-TV MAPT AFG3L2 ALDH5A1 SP110 MT-ATP6 SARDH CPA6 GRIN2A KCNMA1 INS SCN8A AP3D1 STARD7 CNKSR2 AP2M1 RPS6KA3 MID2 TRAPPC11 CUX2 MT-TS2 CILK1 KCTD7 TBC1D24 TREM2 PUS3 TSPAN7 TRIM8 MECP2 PCYT2 SCN1B NHLRC1 MT-ND5 MT-TH VCP PIGV GPAA1 HACE1 SLC12A5 PTCHD1 ACSL4 GAMT TANGO2 CERT1 DMXL2 DNM1 MT-CO2 GRN MT-TW SLC6A1 USP27X PIGT SRPX2 THOC2 CACNB4 GCK PSPH LGI1 KCNQ3 PIGP YEATS2 ZFP57 ST3GAL5 GRIA3 PIGO HCN1 ALG13 CNTN2 AGTR2 PIGL IQSEC2 LAMC3 PAK3 CACNA1D CERS1 SQSTM1 GNAO1 MICAL1 GABRB3 ACADM ZNF41 CLTCL1 MT-ND6 FRMPD4 PCDH19 PNKP ZNF711 PRPS1 SLC22A5 HNRNPU DLG3 ASPA SYP PLAGL1 GDI1 KCNA1 PIGW MT-ND3 DMD TMEM106B SLC9A7 CDKL5 TBCD GPT2 FA2H MT-ND2 PSEN1 RPL10 NIPA1 GPHN NEUROD2 CHMP2B SLC25A19 ZNF142 TMX2 HYMAI PYCR2 MAPK10 USP9X BUB1B TXN2 KCNQ2 PGAP3 PIGG SPATA5 ATP1A2 MED12 PGAP2 ZNF81 TUBA8 HP_LIMB_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_ATAXIA ITPR1 EEF2 UBA5 ELOVL5 ATXN10 TPP1 ATXN3 MAN2B1 COQ2 KCNC3 CAPN1 ELOVL4 SCARB2 SPTBN2 FXN PLD3 PRICKLE1 CXCR4 ATXN2 PMPCA SYT14 PDYN SETX CYP7B1 WASHC5 MME AFG3L2 FGF14 PRKCG ATN1 POLG APTX STUB1 SIL1 RFC1 MSTO1 TMEM240 ANO10 SLC9A1 KCND3 SQSTM1 NOP56 WWOX ATXN1 SCN1B SYNE1 JAM2 BEAN1 GJB1 TBP CSTB TGM6 GRID2 NKX6-2 ATXN8OS PEX10 XRCC1 VAMP1 RTN2 ABCD1 RUBCN FAT2 PRNP FGF12 TBC1D23 CLCN2 HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION PDGFRB C9orf72 ASNS DNAJC13 ATP13A2 LIMK1 HTT GLRA1 CHCHD10 NEB CLN6 FMR1 ATXN10 TOMM40 GBA ATXN3 PSEN1 ADH1C PDGFB TREM2 NOTCH3 SLC6A9 PLAU GCH1 UBTF ELN ERCC5 TREX1 SCN1A PINK1 VPS13C TBP COASY GABRG2 SYNJ1 RRM2B BOLA3 MAPT ATXN8OS UCHL1 SNCA ADGRV1 FUS TRAK1 TH PLA2G6 OPA3 SLC18A2 C19orf12 CP PPP2R2B CHMP2B SCN9A PDE10A DHDDS ZNF592 XPC KLHL41 NR4A2 MPO VPS13A LRRK2 SERPINI1 JPH3 SAMHD1 ATP1A3 MTHFS PODXL GIGYF2 WDR45 PRNP NAGA COQ2 GABRA1 PSEN2 MECP2 ATP6AP2 L2HGDH POLG GLRB TSEN2 TRPM7 MGMT RARS1 HTRA1 SLC30A10 KIF5A DNAJC6 GRN FTL SERAC1 TWNK MMACHC TPM2 ABCA7 SQSTM1 AFG3L2 SPG21 PRKRA ATXN1 SLC39A14 FBXO7 LYST ACTA1 HEXA PARK7 POLG2 HTRA2 TMEM240 BAZ1B GAMT TAF1 TERF2IP MICU1 VPS35 POT1 DPYS RNASEH2B JAM2 DCAF17 HFE CHCHD2 EARS2 SCN1B FARS2 CLN3 PANK2 ACAT1 GTF2IRD1 CLPB VCP ZFYVE26 CTC1 PRKN TARDBP TANGO2 RBM10 AP5Z1 TBC1D24 BAP1 ETHE1 RFC2 CDKN2A TTC19 CSF1R EIF4G1 TERT XPR1 MYORG GTF2I SNCAIP XPA SORL1 GPHN LIPT1 ATXN2 KLC2 ERCC3 ACD GCDH SLC2A1 NDUFAF5 GM2A TBK1 ALG13 KBTBD13 ARHGEF9 TPM3 APOE CLIP2 CDK4 SPR PTS NDUFA1 FKTN PRKAR1B PLAA HCN1 TSEN54 MYPN NOS3 SLC6A3 ADAR IFIH1 APP SYT1 A2M UQCRQ DNAJC5 CTSF SLC6A5 STXBP1 MITF RAB39B PCDH19 CYP27A1 GABRD DCTN1 MC1R PDE8B CAT DDB2 SNCB HLA-DQB1 SLC20A2 STX1B TBL2 FLRT1 PLP1 KCNC3 PRDX1 RNASEH2C TMEM106B TK2 ERCC2 FA2H ATXN7 WDR73 DNAJC12 RNASEH2A CDKN2B HPRT1 SCN2A ATL1 SNORD118 ERCC4 NDUFS7 SLC25A4 GBE1 GLUD2 HP_CHOREA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREA PDGFRB MICOS13 NKX2-1 ADCY5 HTT LMAN2L PRRT2 NUP62 PSAP STXBP1 NDUFB8 CRADD NGLY1 PDGFB POLG SCN8A XPA SUOX TRAPPC11 ATP1A3 UBTF NADK2 LINS1 PDE10A SURF1 SLC2A1 GCDH VAMP2 CHMP1A ATM PNPT1 CP ARSA ELP2 GNAO1 CTDP1 ATP7A SLC45A1 KCNQ3 IREB2 VPS13A MT-ND1 JPH3 SCN2A NAXD HSD17B10 PIK3R5 GRIN1 PRNP SCO2 NDUFS2 SLC25A22 PITX3 ZC3H14 CLIP1 CASK PIGQ GPR88 DCPS TSEN2 ADAR GCH1 MECP2 GJC2 KIF5A MT-ATP6 FXN FTL SEPSECS PIGC PIGN UGDH ERCC2 FBXO31 MED25 SPR SARS1 PLP1 HCFC1 ATN1 ATXN1 APTX MBOAT7 TRAPPC9 CC2D1A KCNQ2 TBP TAF1 MICU1 MED23 DHX30 TRIM8 DCAF17 C12orf4 QDPR ARX RHOBTB2 PANK2 EZR MT-ND5 CLPB DDC PUM1 TYROBP MRE11 GAMT NSUN2 TREM2 TNIK MMUT DYSF SLC6A8 DMXL2 TUBB4A GTPBP2 XPR1 SYT1 MYORG GRIN2B GRIK2 NDUFAF5 GM2A MECR FMN2 CACNA2D2 PNKD PTS KCNA1 NDUFA1 PIGP ST3GAL5 FRRS1L PRSS12 GUF1 KDM5B KIF1C SLC6A3 MRPS34 FOXG1 GRIA4 PGAP1 MAN1B1 OPA3 RSRC1 ACAT2 ST3GAL3 IQSEC1 IRF2BPL PNKP ATXN2 B3GALNT2 NDST1 CARS2 NDUFA9 MT-ND4 FBXL4 HNMT SLC20A2 SIK1 METTL23 WASHC4 MT-TL1 CACNA1B ERCC6 KCNMA1 MT-ND3 MT-TK CDKL5 MT-TW TUSC3 SETX MT-ND6 MT-ND2 AIMP1 ATXN7 TSEN34 C9orf72 NDUFAF3 NDUFA13 CLCN4 HPRT1 EDC3 MT-TV CRBN NEUROD2 ZNF142 TECR PDHA1 SLC25A42 PLA2G6 ADA2 DLAT AARS1 SCN1B ATP1A2 GNAS SLC30A9 HSPD1 AP1S2 HP_PROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_CEREBELLAR_ATAXIA MSTO1 TARDBP DARS2 NDUFS1 TACO1 NDUFAF6 LIPT1 HTT MARS2 CHCHD10 CACNA1A ATXN10 TPP1 ATXN3 CLCN4 ATXN8OS PRKCG NDUFA12 PRDM8 TBK1 NDUFS8 NDUFV2 SACS NDUFA13 ATXN2 ECHS1 SPTBN2 NDUFS7 SURF1 FUS SLC25A15 TTBK2 SLC52A2 SCYL1 ATP6V0A2 AUH PET100 DKK1 NDUFAF2 TGM6 PRNP PDHA1 COQ2 EEF2 COX15 NDUFS3 NDUFS2 NDUFS4 ELOVL4 KCNC3 NDUFAF5 COQ8A NDUFA10 PEX6 PPP2R2B MTPAP MTFMT PDYN SQSTM1 MME ATP13A2 VCP MT-TE NDUFA2 ATN1 ATXN1 ATXN7 TMEM240 NDUFV1 RFC1 GBA2 ANO10 FOXRED1 NDUFA4 KCTD7 WFS1 GLS GJB1 SDHA NDUFA9 PEX10 KCND3 MVK SLC19A3 C9orf72 SYNE1 HP_DYSDIADOCHOKINESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSDIADOCHOKINESIS MSTO1 VLDLR MRE11 PDGFRB XRCC4 SPTBN2 TTC19 GRM1 PDE8B CLN5 ATXN10 ATXN7 NFASC POLR3B PDGFB ELOVL4 SLC20A2 AFG3L2 DAB1 POU3F4 FMR1 PPP2R2B ATXN2 FA2H SLC30A10 CCDC88C ATN1 ATXN1 RFC1 SLC18A2 SLC9A1 SQSTM1 GRID2 KCNJ10 GJB1 PLA2G6 TUBB4A XRCC1 ITPR1 TTPA ABCB7 WDR81 HP_MIGRAINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE TWIST1 IL12A TWNK CACNA1A TREX1 RPS15A RPS24 GATA1 ENG POLG SLC1A3 NF2 MT-CO2 MYORG MT-CO1 MT-TF SCN8A PMS2 MVK PGK1 BMPR1A CSNK1D GDF2 EPCAM MT-TW NOTCH3 GCDH APP MEFV PDGFRB IL12A-AS1 GABRG2 SLC6A19 RELA SRPX2 MLX RPL5 FGFR3 IL10 IL12B RRM2B GRIN2A KCNA1 RPS26 PEX11B RPL18 STAT4 GP1BA MT-TC FGFR2 SH2B1 NFIX IL23R PRRT2 ERAP1 RPS27 RPS7 RPL26 RPS29 SMAD4 CCR1 NOP56 MT-TS2 ACVRL1 MT-TK MT-TL1 MT-ND1 MT-ND4 PDGFB MLH3 TSR2 MSH2 KLRC4 ACSF3 KCNQ3 COL5A1 SCN2A MSH6 PMS1 TNF ATP1A2 MT-CO3 MT-TQ GPR101 SMARCB1 MT-ND5 SLC2A1 RPS10 ADAMTSL1 GATA2 MLH1 MT-ND6 ADA2 SCN1A HLA-B KRAS MYD88 MT-CYB SMAD3 MT-TV RPS17 COL1A1 AIP C11orf95 TGFBR2 NLRP3 RNASEH1 GP1BB RPL35 TNFRSF1A C4A UBAC2 RPS28 RPL35A RPS20 RPL11 COL5A2 COL4A1 RPL31 GP9 RPL15 SEMA4A POLG2 KCNQ2 VHL EDNRA NDP RPS19 HTR1A RPL27 DNM1L TLR4 AMACR STIM1 SLC25A4 PIK3CA ESR1 MT-TH FAN1 FAS COL3A1 OPA1 HP_MIGRAINE_WITH_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE_WITH_AURA EDNRA SCN1A ESR1 CACNA1A TNF ATP1A2 CSNK1D HP_TRUNCAL_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_ATAXIA VLDLR DARS2 ITPR1 KCTD7 EEF2 SLC1A3 SACS ATXN3 ATG5 ATCAY SLC9A6 CEP120 DAB1 TRAPPC11 VWA3B NAT8L POLR3A ATP1A3 UROC1 SYT14 SPTBN2 CYP7B1 SLC30A10 COG5 PPP1R15B FGF14 GBA2 ATN1 APTX STUB1 ADGRG1 MSTO1 ANO10 KCND3 NOP56 GRID2 ATXN1 CACNB4 ATP2B3 MECP2 ATP8A2 HARS1 HIBCH NKX6-2 CWF19L1 PEX10 ABCD1 PRNP WDR81 HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM HACE1 VPS11 SLC1A4 SLC6A8 SYNJ1 LMAN2L NKX6-2 POMT1 PAFAH1B1 NARS2 KIFBP ARID1B FGFR3 RAB3GAP1 RNASEH2C COG7 SLC6A9 SPTAN1 CLP1 NADK2 SACS MOGS SLC1A2 MED25 CHMP1A COX7B PAX6 FKTN MT-ND4 SOX11 KANSL1 ZSWIM6 PHGDH SHOC2 KCNK4 WDR26 CCDC174 MT-TQ DCHS1 TAF2 SNIP1 DYNC1I2 SLC25A22 SETBP1 ZC3H14 CLIP1 SLC35A2 TMTC3 ATP6AP2 GPSM2 PIGQ TBCD TSEN2 FKRP WWOX MT-CO3 C2CD3 TREX1 SOX2 SEPSECS UNC80 NEDD4L AKT3 DDX3X FBXO31 FLCN PRUNE1 RERE KDM1A KLHL7 FGFR1 FA2H BRF1 MBOAT7 DDHD2 TRAPPC9 COPB2 VARS1 TRAPPC6B WDR45B ASPM TAF1 MED23 GMPPB PUS3 TOE1 RNASEH2B CNTNAP1 SSR4 STAMBP EBP ACTL6B HSD17B4 PNKP TECPR2 CSPP1 TUBB2B MT-TH ZFYVE26 AP4B1 TBC1D23 DARS2 RAC1 RARS1 GPT2 KCTD7 AP5Z1 DMXL2 C12orf65 TUBA1A KIF2A KCNQ2 MACF1 MOCS2 RNF13 CEP120 BICD2 ARNT2 RAB3GAP2 TGFB1 FRMPD4 ANKRD11 EXTL3 SIN3A CYP2U1 LNPK LYRM7 PIGP NFIX GRIA3 PLAA FRRS1L WDR62 GFER TBC1D20 TTI2 PRSS12 PCGF2 KDM5B NANS GNAO1 ADAR TBCK AP3B2 IFIH1 CARS2 MT-CO1 PGAP1 STAG2 OTUD6B WT1 TRRAP DIAPH1 MAN1B1 MT-ND5 NFIA UGP2 RSRC1 ARSI ST3GAL3 IQSEC1 CRPPA EMC1 ZEB2 MT-ND6 VPS53 TMCO1 SOX4 RAB18 SIX6 SON SLC25A24 ERLIN2 AHCY PPP2R1A FAT4 ARID1A KCNA1 SMARCE1 PYCR2 EFNB1 CDKL5 TUSC3 SRPX2 KIDINS220 DAG1 PPP1R15B USP7 AIMP1 BRAT1 PIGN MT-CO2 CEP290 CLCN4 AHDC1 USP9X NT5C2 ARID2 EDC3 ALX4 CRBN NEUROD2 HIVEP2 EIF2S3 IGF1R COG2 ARFGEF2 QARS1 PRMT7 NR2F1 RB1 MT-TL1 MFSD2A ACO2 NALCN ASNS RNU4ATAC GLUL YWHAE RTTN TUBB ATP6V1A SMARCC2 STXBP1 AIFM1 GBA2 CRADD CTNNA2 MAPK8IP3 SMARCD1 POLR3A NUP188 UBTF MT-TF PARS2 LINS1 SMG9 GRIN1 SPATA5 TUBB3 KCNT1 VAMP2 MRPS22 MEF2C IFT52 ARHGAP31 MT-ND1 SPG11 PSAP COG4 ZFR SLC45A1 ZNF148 AP4M1 UBE3B ADNP LONP1 SAMHD1 PAH PIGG SCN2A GABRB1 RSPRY1 PRKDC HTRA2 CASK TRMT10A CTNNB1 MDH2 COASY AIMP2 YY1 ASXL1 DCPS POLR3B TARS2 SMARCB1 RUSC2 KIF5C GRIN2A PCLO NHLRC2 PIGC BCOR LARGE1 PIGA SARS1 ATP13A2 SPG21 ASXL3 CC2D1A AMPD2 MT-TS2 WAC SMARCA4 DOCK7 TRIM8 ATL1 POMT2 MOCS1 REPS1 C12orf4 EARS2 IER3IP1 ARX TCF4 RHOBTB2 NONO EZR PSAT1 RMND1 EPRS1 KATNB1 DPF2 MAF TYROBP NSUN2 CUL4B TNIK CCDC88A ATN1 PCNT ADAT3 GRIK2 GJC2 VWA3B PIK3R2 FMN2 DHCR7 POGZ ZNHIT3 ZBTB20 POLG2 AP4S1 CDK13 TMEM106B TBCE CDC42 IBA57 ACER3 PUF60 FOXG1 GRIA4 NDUFA2 MT-TW DARS1 GLRX5 NEXMIF TUBB2A B3GALNT2 NDST1 GOT2 PRPS1 AP4E1 FBXL4 GFM1 PPP2CA KCNT2 HNMT MAPRE2 ALDH6A1 SIK1 METTL23 WASHC4 MAP2K2 HIC1 ERMARD TUBGCP2 CDK10 MAP11 RNASEH2A DYNC1H1 POLR1C TMX2 TECR UBA5 BUB1B RAI1 MBTPS2 SCN3A EXOSC8 SCN1B WDR73 OSGEP WDR81 HP_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOCELE SPATA7 RD3 FGFR3 COL18A1 GLI3 TMEM216 TMEM231 TMEM237 KCNJ13 POMT1 LCA5 ARHGAP31 GDF6 INPP5E CEP41 B4GAT1 CC2D2A FKRP IMPDH1 IFT140 ALX3 FLNB ARMC9 POMGNT1 ESCO2 CEP55 B9D2 GMPPB ALX4 POMT2 WDPCP TMEM138 FKTN POMK PCYT1A TULP1 TCOF1 CEP120 NPHP1 CSPP1 RPGRIP1 FLNA NOTCH1 AIPL1 ZSWIM6 FRAS1 B9D1 CEP290 GRIP1 ARL13B POLR1C TMEM107 TMEM67 RPGRIP1L POLR1D VSX1 TCTN2 MSX2 CRPPA TMTC3 RPE65 NID1 HOXD13 MKS1 DOCK6 FGFR1 KIAA0556 NMNAT1 EOGT FREM2 GUCY2D LARGE1 DLL4 ARL3 KIAA0586 LAMB1 PIBF1 TCTN1 RBPJ IQCB1 CRB1 CYP26B1 AHI1 C2CD3 ALX1 CPLANE1 SMO RDH12 CRX HYLS1 CEP104 LRAT ZNF423 USP45 HP_OCCIPITAL_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_ENCEPHALOCELE RPGRIP1L TMTC3 CSPP1 COL18A1 HOXD13 GLI3 TMEM67 B9D1 POMT2 MKS1 POMT1 FKTN INPP5E CYP26B1 B4GAT1 C2CD3 FKRP SMO POMGNT1 ARL13B CC2D2A TMEM107 LARGE1 GMPPB KIAA0586 MSX2 TMEM231 LAMB1 B9D2 POMK ALX4 HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT CCDC39 RSPH1 PFN1 ARHGEF1 CCNO SPAG1 LIMK1 SOX3 HAAO KRAS BLNK BACH2 FANCL FGF20 CD79A AFF4 SOX9 DNAH1 MAP3K7 ELN FLNB GABRG2 PON1 BRIP1 COL2A1 SFTPC CASR PORCN CD81 WRAP53 PPARGC1A DNAAF1 MYRF ATM LTBP3 CHD7 DNAH9 FAM13A STN1 RSPH3 WDR35 SERPING1 TERT LRBA RSPH4A KANSL1 GAS8 WDR26 TNFRSF13B CCDC65 DCHS1 POLR1D ORC6 CTLA4 SNIP1 HRAS NEK1 ICOS SETBP1 RAI1 CYBC1 SEMA3E MGP FOXI1 OPTN SLX4 DICER1 DNAAF4 WRN C9orf72 FRAS1 SCNN1A IL21R UNC13A FANCB C2CD3 PAX3 SNRPB NFIX RSPO1 GREB1L ARVCF LRP12 FCGR2A FANCA NFKB2 ANO3 KIF7 NCF4 BRF1 TGFB1 IQSEC2 LAMB3 FOXF1 ERBB4 UBQLN2 XRCC2 GALC DNAAF6 SFTPA2 CCDC103 SQSTM1 IGHM GNPTAB CXCR4 UBE2T TINF2 ATP11A LTBP4 TAF1 SCNN1B GTF2IRD1 UFD1 MUC5B BRAF IL2RG CCNF SCNN1G FANCM RFC2 SLC22A18 ERCC4 TAP1 FOXJ1 PIK3R1 CYP2A6 RPGR KRT16 TONSL IRF8 NCF2 MEIS2 DCTN1 EP300 DNAL1 EXTL3 DEAF1 TREM2 FGFR1 TERC B2M CLIP2 COMT POR HESX1 LRRC56 KCNMA1 MYCN RSPH9 JMJD1C NEFH RPL5 SOD1 PDGFRB TNFRSF13C DNMT3B HIRA BTD BRCA2 VCP LAMC2 PTH1R TARDBP SYT1 CCDC40 NEK10 RAC1 CREBBP IDS POLR1C DNAI2 TRRAP PLG DDR2 LMNA KIF22 WDR34 BRCA1 IGLL1 SCN4A EMC1 CD8A DNAI1 CYBB DNAJB13 PRKN HOXD13 CR2 MT-CYB MKS1 CAT MAD2L2 PARN GRIP1 FGFR2 CHMP2B FAT4 CFAP410 RMRP ATP6V1E1 MSH6 RIN2 DYNC2H1 TCTN3 POLR3A SOX2 TBX1 LRRC6 CFAP298 DNAAF5 RPL10 CFTR NCF1 AHDC1 INTU HDAC4 SPECC1L SEC24C CCDC114 EPHA4 CCDC151 PRKCD CTC1 PRMT7 RET KRT6A DNAAF3 DPP9 PALB2 ASAH1 RSPO2 FANCE SOX4 CYBA DHCR7 FASLG MCIDAS DAO KEAP1 NOP10 IFT80 MYMK RFWD3 MAP3K8 CD19 ERBB2 PON2 TTC25 RIPK1 CD79B CFAP221 AMER1 LAMA3 ZIC3 GLI3 SLC29A3 STK36 HNRNPA1 MATR3 DSP HSPG2 GMNN OFD1 SLC26A4 MSH2 SCARF2 RREB1 FOXE1 NME8 FUS UBE3B FANCF TBX3 GLE1 KCNJ10 HYLS1 CFAP300 RAB3GAP2 PON3 TRIM2 KAT6A ZNF341 BLM ERCC6 SPEF2 FANCG ZMYND10 RASGRP1 GLT8D1 WDR60 FREM2 ARMC4 ABCA3 FANCI PRRX1 FANCD2 APC SFTPA1 ANXA11 CARMIL2 EGFR CASP8 BAZ1B TAPBP RTEL1 PROKR2 TAF15 NIN DNAH11 EDN1 ATXN2 PIK3CA LRRC8A ADAMTSL2 EBP GP1BB EFL1 RAD51 SLC26A2 LBR IRF1 MLH1 WNT3 DRC1 PCNT NFKB1 WNT7A GAS2L2 EIF4A3 GTF2I STAT1 BMPER LRP4 TBK1 SRPX2 FBN2 MS4A1 COL12A1 NPM1 GRIN2A SF3B4 EHMT1 TCOF1 ERF FIG4 NOTCH3 KAT6B PRPH DNAH5 HYDIN TSPYL1 RAD51C PUF60 VPS13B BTNL2 TTC12 PGM3 IL17RA GLMN CHCHD10 ORC4 TAP2 FLII LONP1 KRT17 ARNT2 FANCC ANG VAPB TBL2 OTX2 PIK3CD DNAAF2 PPP2R1B IL6ST FERMT1 TCF3 TNFSF12 ITGA8 NHP2 HLA-DRB1 PSAP NBN SMAD4 USB1 KRT6B DKC1 IDUA FLNA HP_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMONIA KMT2D OSTM1 GBA RSPH1 DOCK8 NKX2-1 RNU4ATAC SPAG1 RAG1 MCIDAS AFF4 TNFRSF13C DNAH1 NOTCH3 CD19 ALMS1 NADK2 UNC119 SFTPC FOXN1 CD79B CFAP221 CD81 SAMD9 MED25 ZAP70 RAG2 IGLL1 DNAAF1 RPGR STK36 LTBP3 PLOD1 DNAH9 BTK TERT COL11A2 OFD1 TNFRSF11A LRBA RSPH4A NME8 SMARCD2 GAS8 CFTR TNFRSF13B CCDC65 CFAP298 ORC6 P4HTM MAN2B1 CFAP300 JAK3 CACNA1C ICOS SETBP1 SPEF2 LIG4 NIPBL STAT3 ZMYND10 IL7R HLA-DQA1 IL21R SELENON SP110 ACADVL CCDC39 ARMC4 NSMCE3 NFIX DNAI2 ACP5 PTPRC KIAA0586 FCGR2A NFKB2 NEK10 MTHFD1 EGFR RYR1 ADA DNAI1 TGFB1 DNAAF6 IL2RG KCNJ6 DCLRE1C CCDC103 IGHM GNPTAB DNAAF4 PNP CFB TAF1 CARD11 USB1 FMO3 HLA-DQB1 GFI1 SFTPA2 CD3D FOXJ1 CRLF1 ELANE SRP54 NFKB1 PANK2 GAS2L2 CD247 IRF8 CCDC151 WAS ZBTB24 CD3E DNAL1 EXTL3 SLC35A1 NCF1 TK2 MS4A1 IFNGR1 RNF168 RMRP RSPH9 NHLRC1 MUC5B DNAH5 DNMT3B RNF125 EPM2A TTC12 LEP RAC1 CYBA PGM3 NOS1 DDR2 TBC1D24 CHD7 RANBP2 TCIRG1 DNAJB13 CR2 CCDC40 NCF2 SLC25A24 SGCG WDR19 FOXP3 ACTA1 UBB CFAP410 TTC25 DNAAF2 CXCR4 MASP2 DRC1 TBCD CYBB RSPH3 LRRC6 PIGN TNFSF12 DNAAF5 CCNO CSPP1 SLC35C1 HYDIN TIMM8A NBN CCDC114 CASP8 LRRC56 PEPD BLNK CD55 GRHL3 PRKCD KPTN PMM2 DNAAF3 KDM6A POLA1 DNAH11 HP_RESTRICTIVE_VENTILATORY_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_VENTILATORY_DEFECT CHRND SCN4A RAPSN ICOS HPS4 GALNS SLC12A6 FKRP FGFR3 TSC1 SGCG NFKB1 CHCHD10 GLB1 MUSK CSF2RB CHRNE TRAPPC11 SELENON FLNB MT-TN CTLA4 IKZF1 DNASE1L3 MYH7 GNPTAB HES7 ACP5 MS4A1 LRP12 MESP2 GZF1 CD81 PIEZO2 CHRNB1 SYNE1 RNF168 TNFSF12 CR2 TTN DOK7 STAC3 MT-TL2 COL13A1 SLC34A2 CSF2RA NFKB2 CD19 DKC1 COL2A1 FRG1 AK9 MEGF10 HLA-DPB1 MT-TL1 HLA-DPA1 PTPN22 PRKCD TSC2 TNFRSF13B HLA-B DDR2 CHRNA1 NLRP3 LRP4 AGRN PRTN3 HPS1 TNFRSF13C HP_PULMONARY_ARTERIAL_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERIAL_HYPERTENSION VPS33A LIFR SFTPA2 NKX2-1 IRF5 G6PC3 FGFR1 JAK2 ARHGAP31 AFF4 CAV1 HBB STAT1 FGFR3 KCNK3 LIPT1 GDF2 PAM16 FOXP1 MT-TF MLX SFTPC CHST3 IL12B COL1A1 GATA6 THPO MED25 HLA-DRB1 COX7B BANF1 HSPG2 SCARB2 SMAD4 MUC5B TERT NFIX ACVRL1 MT-ND1 MT-ND4 CCR6 NOTCH1 ATP5F1A CACNA1D MT-CO1 COLQ MT-TW MT-TQ MT-ND5 SMAD9 FIG4 ABCD4 GBA EIF2AK4 FBN1 SLC37A4 MT-ND6 MGP BSCL2 ALMS1 KRAS DOCK6 BMPR2 MED12 SLC25A24 CCN2 EOGT MT-CO3 CTCF FOXF1 HLA-B KIAA0319L SFTPB KRT18 NOD2 DLL4 VAC14 TCIRG1 COG1 IKBKG LAMA2 UBE2A PIGN MT-CO2 GJA1 TNFSF11 RBPJ COL1A2 MT-TS2 KRT8 SPECC1L SNX10 FOS PDSS1 MPL CLCN7 SARS2 ENG PPCS FLNA AGPAT2 TBX4 LAMB2 ACTA2 MT-TL1 PPARG NFU1 CAVIN1 IDUA MT-TH PIGA LIPA HP_RESPIRATORY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY PFN1 FGFR3 GLE1 DYNC2LI1 NKX2-1 CFL2 EDN3 MICOS13 LBR SUCLA2 NEB CPT2 TSC2 FBN1 FHL1 LAMP2 PLEKHG5 SURF1 TSFM MT-ND2 FGFR2 SOX9 COG7 SLC6A9 DNM2 PEX7 OSTM1 UBE3B PLPBP CTLA4 PON1 ASAH1 RRM2B BOLA3 MRPS14 SYNE2 PPARGC1A CHRNG FUT8 CHRND LTBP3 HSPG2 GDNF ORC6 HCCS RNASEH2A RUNX2 MCCC2 PEX1 RSPH3 SF3B4 GLA WDR35 MTM1 REN FKBP10 COL11A2 UFM1 TRPV4 CHRNA1 GFPT1 NDUFS3 RYR1 NDUFAF8 NDUFV2 PRKCSH AGRN AK9 MEGF10 LMNA SLC5A7 PEX6 TNNT1 IFT172 NDUFB11 COLQ CCDC174 POLR1D SLC7A7 AGK HRAS SCO2 NDUFS2 NEK1 SYNE1 SCN4A PLEC MT-TT KIT FOXI1 CEP120 CPS1 TBCD OPTN MYD88 COL13A1 MYMK COL6A1 ZC4H2 PHYH FGFR1 PEX10 CRYAB DZIP1L LIPT2 TIMMDC1 NDUFB10 C9orf72 FKRP UNC13A CSF2RB TMEM70 SELENON CHRNE COL6A3 COX8A PLAGL1 DES SNRPB CCDC65 SFTPB COQ4 AGGF1 MARS1 KRT5 PURA TPM2 EXOSC9 LRP12 BCS1L SLC25A20 VRK1 DMD PEX12 LAMA2 ATXN1 NDUFS6 AGTR1 IGHMBP2 FOXRED1 INPPL1 LAMB3 TSEN54 SLC18A3 AAAS ORAI1 DST ERBB4 UBQLN2 GALC NDUFAF4 WFS1 CISD2 WDR19 GMPPB MYO9A KAT6A SQSTM1 HYMAI HLA-DPB1 OCRL PRPS1 SLC25A4 COQ9 IFT80 NDUFS8 NDUFAF3 LIAS TMEM126B MYH3 CCNF TTC21B PEX14 MECP2 PIP5K1C SLC52A2 MCCC1 SPG11 ACTA1 COX6B1 TK2 KRT16 SNAP25 PKHD1 SRP54 BICD2 TET2 COX14 DCTN1 AIFM1 LFNG RNASEH1 TMEM43 ACOX1 PMP22 TREM2 SDHA CUL7 CHMP2B FKTN LYRM7 GMNN DOK7 NEFH COA3 ERF SOD1 PLAA MT-TL2 STIM1 ITGA3 SLC25A46 SUCLG1 ACVR1 NDUFV1 MGME1 CNTN1 DMPK TBCK VCP LAMC2 TARDBP MFN2 NSUN2 NEK10 POLR1C SLC25A1 WDR34 HBB LRP4 PRTN3 TPM3 UNC93B1 GAA ALMS1 MTMR14 SLC25A24 AHCY NDUFAF2 CFAP410 LARS2 NDUFS1 RMRP LTBP4 NDUFA10 DYNC2H1 PEX13 CDC45 TTN STRA6 CDC6 CCBE1 NDUFB3 SLC52A3 PBX1 DAG1 SLC26A2 CFAP298 ASCC1 COX20 MYH7 PSAP AHDC1 GMPPA CCDC114 MPZ EPHA4 CCDC151 NBN SYT2 SPAG1 HADHB LAMB2 ERBB3 PEX2 KRT6A SON NDUFS7 NUP88 DNAAF6 ALAD RIPPLY2 LIFR ASNS KLHL41 SCO1 TRIP4 NDUFAF5 CTSD GLUL VAMP1 ALDH7A1 DAO G6PC3 NDUFB8 SEC63 COL1A1 PEX16 TACO1 MT-TE COL6A2 HES7 NUP188 EGR2 PON2 MT-ND3 PLOD2 HADHA COX7B CLCF1 PET100 INPP5K LAMA3 GLI3 CHRNB1 LMOD3 KRT14 ACE HNRNPA1 PLOD1 MATR3 RFT1 DNAAF5 WDR60 SLC27A4 TMEM231 MYF6 PEX5 FLNC SLC26A4 TUFM FUS ZNF148 SPEG HIBCH SEMA3E MYO1H PEX26 IFT140 COL12A1 KCNJ10 COX10 CHD7 MESP2 TNPO3 VMA21 POGLUT1 PON3 NALCN TRIM2 USP18 HTRA2 PEX19 POMK RAPSN MCM4 BDNF FARSB NPC2 MYL1 NFASC SEPTIN9 COA8 PHOX2B MUSK GLT8D1 CYP27A1 SMPD1 NHLRC2 TRMU CNTNAP1 TRAF7 TPI1 ORC1 FCSK MORC2 ARMC4 AGT ANXA11 BIN1 POLG SLC2A10 GTPBP3 EXOSC3 POLG2 FLAD1 MT-ND1 NDUFS4 TLR3 ABCA12 TAF15 CSF2RA TRAF3 CHAT KCNJ6 HACD1 POMT2 ATXN2 LRP5 ITGA7 SLC19A3 MT-TN HLA-DPA1 MPL SHPK MYOT CLPB SBDS CFAP300 FLNA CRLF1 TWNK TICAM1 PEX11B BSCL2 LIG4 YARS2 EMD BMPER FLNB TBK1 KBTBD13 ATAD1 GNPTAB PIEZO2 RNU4ATAC NPHS1 NDUFA6 ZMYND10 FAM20C IFT81 RNF168 TCOF1 IBA57 FIG4 KLHL40 MYPN COL1A2 PRPH COX15 HYDIN TSPYL1 ADAMTS3 INVS MT-TL1 PTPN22 GLS ORC4 NDUFA1 CHCHD10 C19orf12 DLL3 GATA2 NDUFA11 LRRC6 COL11A1 MYL2 KRT17 MYOD1 NDUFAF1 MYBPC1 NDUFA9 ANG GPX4 TSC1 VAPB NAXE SLC25A3 DPM2 SMN1 DNAJC21 NDUFB9 SLC25A26 PEX3 DPAGT1 CDT1 SARS2 SMAD4 ABCA3 STAC3 POMT1 KRT6B MAP3K20 BCHE EXOSC8 MAMLD1 UBA1 FAT4 NFU1 TRAPPC11 BAG3 COL3A1 JAK2 NUBPL LARGE1 HP_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPNEA RSPH1 PFN1 NKX2-1 SPAG1 ATRX PRRX1 TSC2 RPS28 SH2B3 STAT5B LGI4 DNAH1 UBE3B PON1 DPM2 PRKAR1A COL2A1 GATA6 SFTPC RRM2B PPARGC1A DNAAF1 TRAK1 LTBP3 MAPT DNAH9 FAM13A STN1 ORC6 TRPM4 HCCS RUNX2 GLA DBH DNA2 TERT RSPH4A CCR6 TNNT2 GAS8 AK9 MEGF10 SLC5A7 ACVRL1 COLQ FGFR1 HLA-B CCDC65 RUNX1 BCOR SERPINA1 MYH11 SCO2 NDUFS2 NEK1 SETBP1 IRF2BP2 ALAS2 MYBPC3 SCN4A VPS33A GNAS OPTN COL13A1 GBA OTX2 C9orf72 SCNN1A UNC13A CSF2RB CHRNE ACADVL COX8A ABCG8 SFTPB MARS1 NOD2 NUMA1 LAMB3 FOXF1 ERBB4 SCN5A UBQLN2 GALC DNAAF6 SFTPA2 JPH2 KAT6A CCDC103 SQSTM1 SPP1 SOX9 SSR4 DNAAF4 PLEC FGFR2 TNNI3 NPM1 ATP11A SCNN1B EDN1 MT-ND5 CSPP1 MUC5B NAGS CCNF EFEMP2 MYO9A IRF5 FOXJ1 AGRN LDLR WIPF1 COX6B1 MMAA SNAP25 TSC1 CAV1 SRP54 SMAD3 COX14 DCTN1 EP300 DNAL1 NEB TREM2 NABP1 PNKD TERC ELN PYGM STAT4 HLA-DRB1 WAS FLNC GMNN CASR RSPH9 NEFH COA3 GATA4 SOD1 EFTUD2 TRMT5 ITGA3 MGME1 TNNC1 VCP LAMC2 TARDBP FBN1 TBL1XR1 MRPL3 TGFBR1 MYPN MYL2 CREBBP DSC2 ZFPM2 COL1A2 SLC25A1 ACADM HBB LRP4 IRAK1 EPOR SCN1B DNAJB6 DNAI1 DPM1 BMPER DNAJB13 GAA FBP1 ETFDH PARN STX16 CHMP2B FOXP3 CFAP410 SLC25A3 MT-TL1 POMT1 ADAMTS13 MT-ND3 CPT2 SLC18A3 CHRND CDC45 NR2F2 MT-TW SCNN1G CDC6 TGFBR2 MT-ND6 SLC52A3 MYLK LRRC6 RPS26 DNAAF5 CCNO NDUFAF3 COX20 CFTR TTN USP9X NGLY1 XYLT1 CYB5R3 LRRC56 EPHA4 MMUT SYT2 LAMB2 PMM2 DNAAF3 SLC25A4 STT3B DPP9 CHRNA1 BMPR2 ASAH1 AIFM1 EOMES CRELD1 JAK2 CBL SCO1 KLHL7 VAMP1 ALDH7A1 MCIDAS PGM1 DAO NDUFB8 TACO1 MT-TE LYRM4 PON2 SURF1 COX7B CFAP221 PET100 LAMA3 CHRNB1 PML PIGT RPGR STK36 EDA HNRNPA1 HLCS DSP IFT52 FBLN5 NPPA OFD1 APOB PRKCSH NME8 FUS MT-ND1 SIK1 ADNP GLE1 TGFB2 ADCY6 COX10 CFAP298 SMPD1 MATR3 CFAP300 BTNL2 PON3 RAPSN SPEF2 AIMP2 ACTA2 ZBTB16 ZMYND10 SMAD4 COA8 PRKG1 COQ7 TRIP11 MUSK GLT8D1 MT-ATP6 CCDC39 ARMC4 ABCA3 TRMU CYB5A IKZF1 GNAI3 DNAI2 ORC1 RARA NEK10 SFTPA1 ZIC3 ANXA11 POLG LIFR SLC2A10 GTPBP3 DMPK DOK7 POLG2 MYL3 RTEL1 PCSK9 TAF15 CSF2RA CHAT KCNJ6 FIP1L1 ISCU ASXL1 SERPING1 ETFA ATXN2 DYNC2LI1 MT-TK MT-TN TBX4 SBDS SLC12A3 TWNK COPA PLCB4 ETFB ENG GAS2L2 TET2 CCDC151 MFAP5 TRPV6 TBK1 NUP214 MMAB DNASE1L3 SLC35A1 CLCNKB TK2 LOX RNU4ATAC FAM20C LDLRAP1 IFT81 DISC1 TGFB3 ERF FIG4 STAT3 EPHB4 PRPH DNAH5 PUF60 TTC12 ORC4 TUBB4A ABCG5 ARX CRLF1 SDCCAG8 GYG1 CHCHD10 TBC1D24 EIF2AK4 MPC1 SRSF2 CCDC40 MT-ND4 ANG VAPB NKX2-5 TTC25 VCL DNAAF2 DRC1 PRRT2 MT-ND2 IL1RN RSPH3 DNAJC21 KIF20A MT-TV PSAP HYDIN KCNA1 CDT1 CCDC114 MAT2A NDUFB11 CNTNAP1 FOXE3 CCN2 DNAH11 HP_EMPHYSEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMPHYSEMA SERPINA1 EFEMP2 ICOS FARSB TAP1 MGP FBLN5 FBN1 COL1A1 TSC1 NFKB1 SCNN1A CDT1 ALDH18A1 TGFB2 NSMCE3 DNASE1L3 SCNN1G MS4A1 CD81 DYNC2LI1 TNFSF12 COL5A2 CFTR CR2 TAPBP GMNN EVC2 HLA-DRB1 GLA NFKB2 CD19 ELN RHOH SPINK5 GLI1 COL5A1 BTNL2 EVC FLCN LMNA PRKCD TSC2 TNFRSF13B LTBP4 SCNN1B SON TAP2 TNFRSF13C HP_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_DISTRESS RSPH1 NKX2-1 SCO1 SPAG1 KLHL7 VAMP1 ALDH7A1 PRRX1 TSC2 MCIDAS RPS28 NAGS NDUFB8 LGI4 DNAH1 TACO1 MT-TE LYRM4 UBE3B DPM2 SURF1 COL2A1 COX7B CFAP221 PET100 DNAAF1 TRAK1 RPGR STK36 EDA MAPT HLCS DNAH9 ORC6 HCCS RUNX2 IFT52 FBLN5 OFD1 RSPH4A CHRNE NME8 GAS8 MEGF10 SLC5A7 MT-ND1 SIK1 ADNP STT3B COLQ ADCY6 COX10 FGFR1 CCDC65 CFAP298 CFAP300 SCO2 NDUFS2 SETBP1 SPEF2 AIMP2 VPS33A COL13A1 ZMYND10 COA8 OTX2 COQ7 TRIP11 CSF2RB ACADVL MT-ATP6 COX8A CCDC39 ARMC4 TRMU SFTPB GNAI3 DNAI2 ORC1 NEK10 ZIC3 LIFR SLC2A10 DMPK FOXF1 GALC DNAAF6 CSF2RA FGFR2 CHAT KAT6A CCDC103 SERPING1 ETFA SOX9 SSR4 DNAAF4 DYNC2LI1 MT-TN FBP1 EDN1 MT-ND5 SBDS SLC12A3 EFEMP2 MYO9A MMUT COPA PLCB4 STAT5B FOXJ1 AGRN ETFB COX6B1 MMAA SNAP25 GBA GAS2L2 SRP54 BMPER COX14 CCDC151 TRPV6 EP300 NUP214 DNAL1 MMAB SLC35A1 CLCNKB TK2 SFTPC FAM20C IFT81 GMNN RSPH9 COA3 DISC1 EFTUD2 ERF ITGA3 EPHB4 DNAH5 PUF60 TTC12 CREBBP ORC4 TUBB4A ZFPM2 SDCCAG8 SLC25A1 TBC1D24 MPC1 DNAI1 DPM1 DNAJB13 CCDC40 ETFDH MT-ND4 TSC1 FOXP3 GATA6 SLC25A3 MT-TL1 POMT1 ADAMTS13 DNAAF3 TTC25 MT-ND3 DNAAF2 CPT2 SLC18A3 MT-TK CDC45 MT-TW CDC6 DRC1 MT-ND6 SLC52A3 MT-ND2 IL1RN RSPH3 LRRC6 RPS26 DNAJC21 DNAAF5 CCNO NDUFAF3 COX20 USP9X MT-TV PSAP HYDIN NGLY1 XYLT1 KCNA1 CDT1 CCDC114 LRRC56 ABCA3 NDUFB11 SYT2 LAMB2 PMM2 CNTNAP1 ASAH1 AIFM1 EOMES DNAH11 HP_ASTHMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTHMA RSPH1 DOCK8 NKX2-1 CBL TNF SPAG1 FOXJ1 MCIDAS LIG4 AFF4 GAS2L2 LMX1B SCN4A DNAH1 TET2 CCDC151 ARL6 DNAL1 SCGB3A2 ALMS1 FOXH1 CCL11 CCDC28B ADRB2 COMT CDON SHH CFAP221 SDHD PEX5 GRHL2 DNAAF1 GP1BA RPGR RSPH9 STK36 JMJD1C PTGER2 DNAH9 TBCK COX4I2 OFD1 LRBA RSPH4A DNAH5 HIRA IL4R RREB1 STXBP1 NME8 GAS8 COL5A1 TTC12 NEK9 NSUN2 CFTR MUC7 IDS PGM3 GLI2 CCDC65 CFAP298 RUNX1 GTF2H5 TBX1 PLCG2 NOD2 CFAP300 TBX21 PLA2G7 ALOX5 ZIC2 DNAI1 PTCH1 MTOR DNAJB13 TRAIP SPEF2 SRSF2 CCDC40 ZMYND10 BBS1 COL1A1 SIX3 GAS1 SIK3 IL13 NODAL CCDC39 ARMC4 TALDO1 GP1BB TTC25 DNAAF2 ELOVL4 DNAI2 ARVCF DDX41 NFKB2 DRC1 FCGR2A DISP1 NEK10 USP7 TGIF1 SPINK5 RSPH3 LRRC6 CARMIL2 HLA-G LIFR DNAAF5 CCNO CDSN COL5A2 TGFB1 GP9 FLG HYDIN DNAAF6 SEC24C CASP8 SUFU CCDC114 CCDC103 ASXL1 LRRC56 PEPD FGF8 DNAAF4 HNMT BCL11B ERCC2 DLL1 MS4A2 DNAAF3 CARD11 UFD1 RIC1 ADA TDGF1 FGFR1 DNAH11 HP_RECURRENT_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPIRATION_PNEUMONIA SP110 KMT2D CSPP1 EPM2A GBA NFIX NHLRC1 NOS1 CRLF1 KIAA0586 SLC25A24 KDM6A HLA-DQA1 HLA-DQB1 PIGN HP_ABNORMAL_LUNG_LOBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUNG_LOBATION RSPO2 CEP57 JMJD1C WNT3 DHCR7 SEC24C GRIP1 GLI3 GPC4 PTEN HIRA FRAS1 PUF60 RREB1 AKT1 FREM2 FOXF1 PIGT FLCN GDF1 BUB3 HYLS1 TRIP13 GP1BB EMG1 ARVCF WT1 TBX1 UFD1 COMT GPC3 BUB1 BUB1B ALG9 FANCB LBR HP_PLEURITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURITIS IL23R IL12A MEFV HLA-B ERAP1 FCGR2B CCR1 CTLA4 PTPN22 KLRC4 HLA-DPB1 HLA-DPA1 TNFRSF1A TREX1 C4A IL12A-AS1 DNASE1 UBAC2 TLR4 IL10 FCGR2A NOD2 FAS PRTN3 STAT4 HP_ABNORMAL_PLEURA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLEURA_MORPHOLOGY BCL6 IL12A HLA-B PRSS1 ELP1 MYD88 FCGR2B BMP2 BCL2 RIT1 KIF11 PLVAP NAB2 KEAP1 DICER1 FSHR CTLA4 TSC1 MEFV SPINK1 HLA-DRB1 SOX18 TNFRSF1A C4A IL12A-AS1 DNASE1 SERPINF2 IKZF1 GUSB HELLPAR DNASE1L3 UBAC2 PIEZO1 IL10 CCBE1 STAT4 GPR35 MST1 PRSS2 MIF CBL INHBA PTPN22 IL23R ERAP1 HFE STAT6 CALCRL CCR1 CFH CD46 FLCN ADAMTS3 IL6 SPP1 KLRC4 BTNL2 HLA-DPB1 TAPT1 LACC1 CCND1 HLA-DPA1 TREX1 TSC2 CFTR TLR4 TCF4 FCGR2A FAT4 NOD2 IRAK1 FAS PRTN3 TNFRSF1B CD28 CTRC CFI GPKOW LBR HP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEA TWIST1 LIFR SCN2A GBA NALCN CCDC47 NDUFS1 TMEM231 NDUFAF6 LIPT1 NEFH CTSD GLRA1 GLUL VAMP1 TMEM237 TRPV4 NDUFB8 TCTN3 AFF4 NGLY1 FGFR3 TCF4 SLC6A9 NDUFV1 NDUFS8 PLPBP RPS6KA3 NEB GABRG2 NADK2 KIAA0586 CTNNB1 ECHS1 NDUFA13 PWAR1 SURF1 PCCB PHOX2B NDUFS7 AMER1 TMEM138 PRPH GNE GPR101 LTBP3 SH3BP2 HSPG2 DNA2 NPHP1 ACY1 CSPP1 BRAF PET100 CHRNE PLCB4 NDUFAF2 SLC5A7 B9D1 MT-ND1 BMP2 SLC39A8 COLQ NPAP1 TRIP13 CC2D2A GABBR2 P4HTM RARS2 HRAS SCO2 NDUFS2 RET HTRA2 CEP57 USP7 COQ2 INPP5E COL13A1 TMEM107 ZC4H2 TCTN2 TMEM67 PCCA KIAA0556 NEK1 CRYAB AIP KIF5A NDUFAF5 C2CD3 MT-ATP6 GDNF SKI SFTPB NFIX BUB3 GNAI3 RPGRIP1L FLCN ARL3 SCN4A SLC25A20 RERE TCIRG1 NDN TBR1 TNFSF11 TCTN1 NDUFA11 TSEN54 DST FOXRED1 ASCL1 CEP120 SLC18A3 SNX10 CEP290 CISD2 CPLANE1 CHAT MYO9A TOE1 CLCN7 TSPYL1 SOX9 MKS1 SDHA AHI1 ARL13B FBP1 TMEM216 HERC2 FARS2 MAGEL2 TECPR2 EDN1 NONO CEP104 MT-ND5 LARP7 LIAS ZNF423 SNORD115-1 SLC19A3 RBM10 SCN5A TACO1 MECP2 ATN1 AGRN FAM149B1 KCNQ2 CEP41 SNAP25 SYT1 GPHN MCCC1 EP300 SLC2A1 NDUFA12 PIGT ARMC9 NDUFV2 SRPX2 UNC80 GNPTAB SNRPN BRAT1 POGZ ACADSB GRIN2A PTF1A FGFR2 D2HGDH KIF7 PLAA KIAA0753 PEX5 PCGF2 DMPK BTD PCK1 SOD1 DKK1 ATP5F1A RNF125 NDUFA2 SLC6A5 WFS1 CREBBP IDS MKRN3 PRNP EDN3 IDUA ARCN1 SLC25A1 PDHA1 KAT6B BUB1B DPH1 GSN SNORD116-1 PRPS1 COX15 HMGCL PIBF1 NDUFS3 MT-ND4 NDUFS4 PEX13 OPA1 NDUFA10 MT-TL1 MT-ND3 ALPL CPT2 MT-TK MT-TW MTFMT MT-ND6 PWRN1 BUB1 MT-ND2 NACC1 AHDC1 NDUFAF3 PSAP OFD1 RUNX2 NDUFA4 MT-TV FBN1 DPAGT1 ABCA3 RAI1 SYT2 NDUFA9 LAMB2 PRMT7 HYLS1 HSPD1 PDE6D FXR1 COL3A1 DCTN1 HP_HEMOPTYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPTYSIS IL12A HLA-B ACTA2 TSC2 IL17F IL17RC SMAD4 TSC1 PRKG1 SCNN1A GDF2 SMAD3 COL3A1 MFAP5 MEFV C4A IL12A-AS1 CTLA4 DNASE1L3 UBAC2 MLX IL17RA SCNN1G LOX IL10 TGFBR2 IL12B ELN MYLK STAT4 CFTR IL23R TGFB3 ERAP1 HLA-DRB1 CCR1 ACVRL1 KLRC4 ENG MAT2A FBN1 BTNL2 HLA-DPB1 HLA-DPA1 PTPN22 CLEC7A TGFBR1 TGFB2 TLR4 SCNN1B TRAF3IP2 FOXE3 F5 FAS MYH11 PRTN3 HP_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMOTHORAX COL5A2 FLCN ABL1 CHST14 TGFB3 ACTA2 HLA-DRB1 SMAD4 SFTPB SLC25A24 COL1A1 TSC1 PRKG1 MAT2A SMAD3 TGFBR2 COL3A1 COL5A1 FBN1 MFAP5 BTNL2 ATP6V1E1 TGFB2 TGFBR1 TSC2 ADAMTS2 LOX CLPB FOXE3 ELN HRAS MYH11 MYLK DSE HP_SPONTANEOUS_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_PNEUMOTHORAX FLCN SFTPB ADAMTS2 TGFBR2 COL3A1 HP_BRONCHIECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHIECTASIS CCDC39 RSPH1 SCNN1G ARHGEF1 CCNO ICOS SPAG1 DRC1 TAP1 FOXJ1 MCIDAS PIK3R1 BLNK RSPH4A BACH2 NFKB1 CD79A GAS2L2 IRF8 STAT1 GAS8 DNAH1 CCDC151 CD19 DNAL1 TTC25 RIPK1 MS4A1 TERC B2M IGHM CFAP221 ZMYND10 CD81 LRRC56 SLC29A3 DNAAF1 RPGR RSPH9 ATM STK36 DNAH9 FAM13A STN1 DSP RSPH3 OFD1 LRBA TNFRSF13C DNAH5 DNMT3B HYDIN NME8 BTNL2 TTC12 CCDC40 NEK10 CFTR PGM3 DNAI2 TNFRSF13B CCDC65 CFAP298 CTLA4 CD79B CFAP300 IGLL1 LRRC6 TAP2 CD8A DNAI1 ZNF341 DNAJB13 BLM SPEF2 CR2 PARN DNAAF4 RASGRP1 SCNN1A IL21R ARMC4 PIK3CD SFTPC RIN2 ABCA3 DNAAF3 DNAAF2 CXCR4 IL6ST FCGR2A NFKB2 TCF3 SFTPA1 CARMIL2 TNFSF12 DNAAF5 TGFB1 TAPBP RTEL1 HLA-DRB1 NBN DNAAF6 CCDC114 SCNN1B DNAH11 SFTPA2 CCDC103 LRRC8A PRKCD TERT ATP11A DPP9 MUC5B HP_PULMONARY_INFILTRATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INFILTRATES SRSF2 CBL IL12A HLA-B LPIN2 IRF5 MYD88 GBA BIRC3 BACH2 TSC1 SMPD1 CAV1 FASLG TET2 MEFV C4A IL12A-AS1 CASP10 CTLA4 UBAC2 FAS PDGFRA IL10 IFNGR1 RASGRP1 STAT4 IL23R RAB27A ERAP1 FOXP1 CCR1 SFTPB MALT1 CCR6 ASXL1 KLRC4 HLA-DPB1 HLA-DPA1 PTPN22 TSC2 TLR4 APOE PRKCD RUNX1 CCN2 PRTN3 BCL10 ASAH1 HLA-DRB1 HP_ABNORMALITY_OF_THE_CEREBRAL_VENTRICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_VENTRICLES FGFR3 VPS11 CTBP1 GLI3 GLB1 SLC12A6 TCIRG1 TSC2 KCNAB2 POMT1 ARHGAP31 B4GAT1 ARID1B TSFM SOX9 DNAH1 GPC3 ERCC3 CLP1 OSTM1 STIL PLPBP OGDH BRIP1 TMEM138 MED25 SLC13A5 NSD1 SMO MTRR PAX6 SHOC2 HCCS RNASEH2A TERT TUBA8 WDR35 CC2D2A BGN PTCH1 RNF213 NUP133 NCAPG2 ALDH7A1 GAS8 B9D1 MTHFS KCNK4 PAFAH1B1 CCDC174 HDAC6 AKT1 VSX1 HRAS EGF CDK6 RNF113A SETBP1 RAI1 SLC35A2 MRPS16 XRCC4 CHST14 RPGRIP1 CEP120 BSCL2 INPP5E PIEZO2 GNAS TCTN2 SLX4 NUP107 PTCH2 OCLN NFIX POMGNT1 SUFU TRAPPC12 KMT2D ACADVL BRAF MAG TREX1 RAD21 BUB3 OFD1 CEP290 DDX3X CASK ALDH18A1 ARL3 MMACHC COL4A2 AKT3 FANCA KLHL7 LAMB1 DSE FANCI FGFR1 ARSB BRF1 COPB2 TCTN1 PHGDH WDR45B CHD3 TAF1 SEC24D XRCC2 ROGDI TMEM67 GMPPB NTNG1 PDGFRB PHC1 DNAAF4 FGFR2 OCRL EBP PIK3R2 ARL13B ERCC4 AGPAT2 HSD17B4 MAGEL2 CEP104 COG8 UFD1 LETM1 TP53 FANCB NF2 KIAA0586 SNORD115-1 AP4B1 MRE11 RAC1 COL18A1 NDUFS2 SH2B1 CEP57 FANCM FOXJ1 ERCC6 GPC4 SLC9A6 PPP2R5D C12orf57 SUMF1 DNAL1 ALG13 ARMC9 BAP1 B3GALNT2 ANKRD11 EXTL3 DEAF1 SIN3A SNRPN GALC COG6 COMT AP1S2 POMT2 WDPCP FKTN CRPPA DOK7 CLCN7 DNMT1 RSPH9 FANCL ERF NCAPD3 PLAA DCHS1 TAF2 L1CAM PDHX ATP6V0A2 NANS NOTCH1 DMPK HIRA ADAR CEP41 TBCK TGFBR2 IFIH1 RNF125 CPLX1 ERCC2 OTUD6B PLG LMBR1 WDR34 MAST1 RERE EZH2 KIF14 DNAJB13 TBC1D24 TMCO1 MT-CYB RAB18 WNT3 MKS1 MAD2L2 FKRP MED12 PPP2R1A DYNC2H1 PRDX1 SMARCE1 KIDINS220 KIAA1109 NEK1 HECW2 PWRN1 CDKN1C USP7 KMT2A ARX RFWD3 PIGN CCNO PIBF1 NDUFAF3 CILK1 PTEN ARID2 KCNQ1 EIF2S3 LRRC56 PDHA1 TAPT1 QARS1 ATP6AP2 EVC2 PMM2 POLR3A HDAC8 PALB2 GABBR2 THOC6 P4HB CCL2 ASNS DHCR7 GLUL GRM1 RTTN TUBB MCIDAS IFT172 NDUFB8 CCDC88C STRADA RECQL4 NGLY1 PPP1CB MCPH1 SMARCD1 NUP188 RPS6KA3 CDK5RAP2 CFAP221 AMER1 KIF7 ISCA1 ZIC3 GCDH B3GLCT TUBB3 PRDM16 COX7B STK36 MEF2C WASF1 POMGNT2 PIK3CA TNFRSF11A MFN2 HNRNPU MBTPS2 RREB1 NME8 LAMA1 TMEM237 UBE3B ATP1A1 SLC39A8 NPHP3 WASHC5 CFAP298 TMEM216 TRIM37 SLC25A1 ACTB USP18 HTRA2 PDGFB POMK NID1 TBCE TMEM107 TBX15 HELLS WDR60 SMARCB1 MECP2 CCDC39 ARMC4 VPS37A MFSD2A POR FANCD2 LARGE1 DNAI1 ASPM CEP63 CENPF HS6ST2 ATXN3 TRAF7 PIGO SMOC1 GP1BB RHOBTB2 UBTF GRN CAVIN1 TYROBP MAP11 RAD51 MC1R TREM2 TET3 PCNT COL3A1 SLC17A5 LIG4 ZIC1 ZIC2 IFNG CCDC151 RTEL1 MAP2K2 HYLS1 MPDZ MUSK ESCO2 WDR26 ACTG1 FAM111A NDUFA6 SF3B4 CDCA7 DISC1 PIGV DKC1 DPH1 KAT6B FH KANK1 GBA RAD51C PACS2 PUS3 VANGL2 GLI2 HBA2 CDC42 TBX1 TBL1XR1 FLII SETD5 JAM3 TRAIP TUBB2A CCDC22 CCDC40 SNORD116-1 MYOD1 PPP2CA PRNP EOGT TSC1 ASXL2 FBN1 CTCF DHCR24 DHX37 TTC25 PRKAR1A GABRD SLC20A2 CFAP43 FOXRED1 PEX10 RSPH3 SMARCA4 TBXT ATP6V1E1 CSPP1 HYDIN TGFBR1 PARN FUZ NDUFB11 SLC25A19 ATXN1 AHI1 ZSWIM6 TMX2 BUB1B TXN2 MAB21L1 RNASET2 SETD2 PIGG NDE1 LAGE3 CLIC2 PHACTR1 OSGEP DNAH11 RSPH1 HEPACAM SPAG1 TMEM231 HTT MPLKIP KLHL15 SLC6A9 CTSK NADK2 PWAR1 CEP55 PORCN GNAQ SMC1A DNAAF1 FGFRL1 BMP2 DNAH9 WDR4 IFT43 ZNF335 RSPH4A CEP135 SOX11 KANSL1 KNL1 ERCC8 AP4E1 CRB2 KIF1A EML1 TNNI3 CCDC65 SNIP1 DENND5A SCO2 TMTC3 GPSM2 MTOR SPG11 TBCD MYMK DOCK6 TSEN2 FLI1 NF1 MAN2B1 NRAS FAM20C C2CD3 SKI RPGRIP1L EMG1 ARVCF GFM2 DLL4 COG1 NDN EXT1 KRAS IQSEC2 COL4A1 TNFSF11 TRAPPC6B RBPJ SLC18A3 XPR1 DNAAF6 FOS DHX30 CCDC103 RNASEH2B IGF2 UBE2T HERC1 PNKP PEX1 PPARG SLC2A1 CCND2 TUBA1A FAR1 FOXC1 MOCS2 B4GALT1 BICD2 ZNHIT3 FIG4 NSD2 ATXN2 ACTA2 OPHN1 VANGL1 JMJD1C FLNA BRCA2 ZBTB24 CENPJ RXYLT1 NSUN2 IDS NFIA ARSI ACD BRCA1 PYCR1 ZEB2 IDUA EHMT1 CNNM2 SOX4 TARS1 SASS6 FLVCR2 B3GAT3 ZBTB11 SON SLC25A24 AHCY FAT4 KCNQ1OT1 ARID1A CAV1 RNASEH2C CPT2 SOX2 BUB1 DAG1 TUBB2B LRRC6 TRPS1 DNAAF5 CLCN4 USP9X INTU SPECC1L SEC24C ANKLE2 BMP4 MT-ATP6 CPLANE1 FTO DNAAF3 TPRKB MTM1 NUP88 EOMES RSPO2 FANCE SHANK3 YWHAE SMARCC2 PEX19 IFT80 ZBTB20 CSF1R CTNNB1 SMG9 SURF1 NIPBL SAMD9 GTF2H5 CHD4 SLC29A3 RPGR YY1 KIFBP NPHP1 CTSC GNAO1 WARS2 ZNF148 FRAS1 HIBCH SEMA3E FANCF ADNP LONP1 SAMHD1 NPAP1 CHD7 TRIP13 SHH CFAP300 SMC3 GTF2E2 MYORG SPEF2 SUCLA2 FANCG ASXL1 ZMYND10 KIAA0556 TAF13 CDKL5 KIAA0753 WDR81 FARS2 UGDH APC2 DNAI2 NEK10 PTDSS1 NAA10 MAP2K1 DNMT3B AMPD2 VHL SNX10 MOCS1 FBP1 HERC2 SHPK CYFIP2 PSAT1 KATNB1 ZNF423 DPF2 RAPSN MAF VPS33A CUL4B NOTCH2 ERCC5 CHST3 CCDC88A ATP6V1A GAS2L2 CEP83 WDR62 STXBP1 GFAP B9D2 PYCR2 METTL5 POGZ ANTXR1 COG5 AP4M1 D2HGDH ADGRG1 STAC3 CYP26C1 DNMT3A VPS13A DNAH5 TTC12 MKRN3 KDM1A WDR73 TRPV4 CEP152 NEXMIF TP53RK CTDP1 FANCC SIK3 ERMARD HBA1 DNAAF2 TGDS TUBGCP2 DRC1 VAC14 CCDC114 FLNB KDM6A EVC CIT JAM2 TINF2 GUSB PUF60 LMNB2 HP_VENTRICULOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULOMEGALY RSPH1 FGFR3 VPS11 HEPACAM CTBP1 GLB1 SPAG1 TMEM231 HTT MPLKIP KLHL15 KCNAB2 POMT1 PAFAH1B1 FANCL B4GAT1 ARID1B TSFM SOX9 DNAH1 GPC3 SLC6A9 ERCC3 CLP1 LARGE1 STIL PLPBP NADK2 PWAR1 BRIP1 FGFR2 CEP55 GMPPB MED25 SMC1A DNAAF1 NSD1 FGFRL1 BMP2 SMO MTRR PAX6 DNAH9 RNASEH2A IFT43 TERT WDR35 CC2D2A ZNF335 FKTN BGN RSPH4A CEP135 SOX11 KANSL1 RNF213 KNL1 PLG AP4E1 ALDH7A1 GAS8 ZSWIM6 PIEZO2 CRB2 PHGDH KIF1A HRAS EML1 MTHFS KCNK4 WDR26 CCDC174 TNNI3 CCDC65 ATXN3 SNIP1 DENND5A SCO2 NDUFS2 EGF CDK6 RNF113A SETBP1 RAI1 SLC35A2 TMTC3 GPSM2 MTOR SPG11 MRPS16 XRCC4 CHST14 RPGRIP1 CEP120 BSCL2 TBCD MYMK TSEN2 SLX4 FLI1 CTCF GPC4 OCLN NFIX L1CAM PIK3CA FKRP POMGNT1 SUFU TRAPPC12 KMT2D NRAS STRADA C2CD3 ACADVL MAG TREX1 SKI RAD21 BUB3 OFD1 CEP290 AKT3 DDX3X CASK EMG1 ALDH18A1 GFM2 COL4A2 KIAA0586 FANCA RERE COG1 CRPPA KLHL7 NDN B9D1 DSE EXT1 FGFR1 FANCB BRF1 KRAS IQSEC2 COPB2 TRAPPC6B WDR45B ASPM SLC18A3 XPR1 CHD3 TAF1 XRCC2 TMEM67 DNAAF6 FOS B3GLCT PUS3 NTNG1 DHX30 CCDC103 PDGFRB RNASEH2B PHC1 DNAAF4 IGF2 OCRL UBE2T HERC1 EBP AGPAT2 HSD17B4 PNKP MAGEL2 COG8 ARX PPARG LETM1 TMEM216 POMGNT2 SNORD115-1 AP4B1 MRE11 RAC1 SH2B1 CEP57 FANCM ERCC4 FOXJ1 TUBA1A FAR1 FOXC1 MOCS2 SLC9A6 B4GALT1 PPP2R5D BICD2 ZNHIT3 DHCR24 FIG4 C12orf57 DNAL1 NSD2 ANKRD11 EXTL3 DEAF1 SIN3A SNRPN ATXN2 ACTA2 COG6 AP1S2 POMT2 WDPCP POMK OPHN1 DOK7 DNMT1 RSPH9 NCAPD3 PLAA DCHS1 ATP6V0A2 NANS DMPK ADAR TBCK BRCA2 IFIH1 CENPJ RNF125 RXYLT1 CPLX1 OTUD6B NFIA WDR34 ACD BRCA1 BUB1B MAST1 CSPP1 EZH2 DNAI1 ZEB2 KIF14 EHMT1 DNAJB13 TBC1D24 TCTN2 TMCO1 CNNM2 SOX4 RAB18 TARS1 SASS6 MKS1 FLVCR2 ZBTB11 COL18A1 MAD2L2 SON MED12 AHCY PPP2R1A FAT4 KCNQ1OT1 ARID1A DYNC2H1 CAV1 RNASEH2C SMARCE1 KIDINS220 CPT2 KIAA1109 NEK1 HECW2 PWRN1 BUB1 CDKN1C DAG1 USP7 KMT2A TUBB2B RFWD3 LRRC6 TRPS1 PIGN DNAAF5 CCNO NDUFAF3 CILK1 CLCN4 USP9X INTU ARID2 SPECC1L CCDC22 ANKLE2 KCNQ1 EIF2S3 BMP4 MT-ATP6 LRRC56 PDHA1 TMEM107 TAPT1 FTO QARS1 ATP6AP2 EVC2 PMM2 DNAAF3 TPRKB POLR3A HDAC8 PALB2 GABBR2 THOC6 MFSD2A ARMC9 NUP88 EOMES FANCE OSTM1 SHANK3 ASNS DHCR7 NPHP3 GLUL YWHAE GRM1 RTTN TUBB SMARCC2 MCIDAS IFT172 NDUFB8 CCDC88C IFT80 NGLY1 PPP1CB MCPH1 SMARCD1 NUP188 CSF1R RPS6KA3 CDK5RAP2 SMG9 SURF1 SETD2 CFAP221 KIF7 NIPBL ISCA1 GCDH GTF2H5 TUBB3 CHD4 PRDM16 RPGR STK36 MEF2C YY1 KIFBP WASF1 TNFRSF11A ARHGAP31 HNRNPU GNAO1 WARS2 NME8 ZNF148 LAMA1 TMEM237 HIBCH SEMA3E UBE3B FANCF ADNP LONP1 SAMHD1 ATP1A1 SLC39A8 NPAP1 CHD7 TRIP13 WASHC5 CFAP298 SHH CFAP300 SMC3 TRIM37 SLC25A1 GTF2E2 ACTB USP18 HTRA2 PDGFB MYORG NID1 SPEF2 SUCLA2 TBCE FANCG CTNNB1 SLC12A6 ASXL1 ZMYND10 TAF13 CDKL5 KIAA0753 WDR60 SMARCB1 WDR81 MECP2 FARS2 CCDC39 ARMC4 VPS37A FANCI SLC13A5 TRAF7 UGDH APC2 FANCD2 DNAI2 NEK10 TMEM138 GLI3 NAA10 CEP63 AMPD2 SMARCA4 HS6ST2 RPGRIP1L MOCS1 PIGO FBP1 HERC2 SHPK CYFIP2 RHOBTB2 UBTF GRN PSAT1 CAVIN1 KATNB1 TYROBP DPF2 MAP11 RAPSN MAF RAD51 CUL4B TREM2 TET3 CCDC88A ATP6V1A PCNT COL3A1 ZIC1 GAS2L2 INPP5E CCDC151 WDR62 RTEL1 STXBP1 HYLS1 MPDZ ROGDI B9D2 PYCR2 METTL5 ACTG1 POGZ ANTXR1 COG5 NDUFA6 AP4M1 COL4A1 PTCH1 D2HGDH ADGRG1 STAC3 DISC1 CDC42 DKC1 DPH1 DNMT3A VPS13A AHI1 DNAH5 KANK1 GBA RAD51C PACS2 CCND2 TTC12 MKRN3 ERCC2 TBL1XR1 FLII SETD5 JAM3 CEP152 NEXMIF TRAIP TUBB2A CCDC40 SNORD116-1 MYOD1 CTDP1 FANCC PPP2CA PRNP ASXL2 TTC25 DNAAF2 TGDS GABRD DRC1 SLC20A2 FOXRED1 RSPH3 ATP6V1E1 SUMF1 MUSK B3GALNT2 HYDIN FBN1 NDE1 PARN NDUFB11 SLC25A19 ATXN1 CCDC114 TMX2 FLNB MBTPS2 KDM6A EVC MAB21L1 RNASET2 CIT JAM2 TINF2 WDR73 PUF60 PHACTR1 LMNB2 OSGEP DNAH11 HP_CEREBRAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_ATROPHY ACO2 RAB3GAP1 CAMTA1 DNAJC13 LIMK1 MARS2 MPLKIP FMR1 FGFR1 EMX2 KCNAB2 TOMM40 GBA CHMP2B TREM2 ARX MYO5A NOTCH3 POLR3A CLP1 UBTF ELN MT-TF ERCC5 RPS6KA3 PARS2 SACS HERC1 VPS13C GRIN1 PIGL RAB3GAP2 CPLX1 ATRX MAPT NIPBL PSEN1 GNAQ GTF2H5 KCNT1 TRAK1 PRDM16 ERCC1 MEF2C B4GALNT1 TERT DYRK1A HTT MT-ND1 MT-ND4 SPG11 XPC MYO7A AP4E1 ALDH7A1 AP4M1 KIF1A USH2A SLC39A8 HSD17B10 GIGYF2 TUBGCP4 SNX14 USH1C MT-TQ RFT1 MAN2B1 WHRN SMC3 GTF2E2 PLK4 RNF113A SETBP1 SIX3 PSEN2 CIZ1 RERE SQSTM1 NRXN1 UBE3A PDZD7 LIPT2 KRAS CDKL5 FKRP TMEM70 ALDH18A1 TRAPPC12 MT-CO3 KMT2D BRAF MECP2 GRN SLC13A5 RAD21 CYB5A PIGN GABBR2 MMACHC MBTPS2 PIGA ABCA7 PRUNE1 COG1 KLHL7 ATP13A2 IKBKG SLC39A4 PEX7 SKI VARS1 TRAPPC6B RAB18 MAP2K1 AMPD2 BAZ1B MT-TS2 PAFAH1B1 TBC1D20 CISD2 NDP B3GLCT VPS35 GMPPB PUS3 NTNG1 ASXL1 POMT2 BCAP31 DGUOK CDH23 PCDH15 RHOBTB2 SMC1A USH1G ADGRV1 GTF2IRD1 ACTG1 TRAPPC9 CHCHD10 RMND1 MT-TH CASK TYROBP GPKOW SLC2A3 MAF GLYCTK RFC2 SNCA CLCN4 SLC9A6 VCP GTF2I ERCC6 XPA SORL1 LRRK2 BICD2 ERCC3 ZNHIT3 YWHAE POLR3B MUC1 HRAS RTEL1 MAP2K2 STXBP1 FRMPD4 PGAP1 SPG7 CLIP2 ERCC2 POGZ CACNA1E AP1S2 OPHN1 AP4S1 SLC25A15 FBLN1 PIGV PLAA DKC1 TSEN54 TBK1 VPS13A GUF1 ALS2 AP4B1 DMPK RNF125 TSEN15 MT-CO1 GRIA4 DOLK TWNK WFS1 MT-TW CDC42 TRRAP MT-ND5 UGP2 JPH3 ACD SCYL2 SETD5 OTUD6B MT-ND6 EPG5 EHMT1 NEXMIF TMCO1 TARS1 ATXN2 CTDP1 DOCK7 DDB2 APP OCLN PRNP CNTNAP2 MVK TUBGCP6 TBL2 CIB2 HIC1 C9orf72 PRDX1 TCTN3 PPP2R2B PYCR2 LMNB1 FA2H GABRD TBCD ESPN KMT2A GBA2 MT-CO2 STUB1 PIGS SHH SLC35C1 SPECC1L NDE1 PARN CYB5R3 BMP4 IARS2 MT-ATP6 PLPBP TMEM106B EIF4G1 NUS1 ERCC4 POMT1 HNF1B KDM6A MMADHC EXOSC8 SPATA5 MT-TL1 HDAC8 ACTB TINF2 PHACTR1 LARGE1 HP_GENERALIZED_NON_MOTOR_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_NON_MOTOR_ABSENCE_SEIZURE PTCHD1 ACSL4 EFHC1 CHD2 DMXL2 CLCN4 STXBP1 DNM1 PRRT2 NGLY1 PIGM GABRA1 FTSJ1 SLC6A1 NUBPL USP27X PIGT RORB GABRG2 UPF3B ALDH5A1 SCN1A SRPX2 CACNB4 RNU4ATAC SLC2A1 HCN1 GRIN2A KCNMA1 ADGRV1 PIGP RAB39B HCFC1 GDI1 GABRB3 SCN9A ARHGEF6 STX1B KCNQ3 EPM2A JRK NHLRC1 CACNA1H CLCN2 ALG13 DHDDS ATAD3A CXorf56 AGTR2 SMARCA2 CILK1 GABRD SLC35A3 IQSEC2 PAK3 PHGDH CPLX1 WDR26 GNAO1 ARX SCN2A ZNF41 IL1RAPL1 SLC25A22 CASK EHMT1 FRMPD4 PCDH19 PIGQ CSTB GATAD2B PNKP ZNF711 DOCK7 DLG3 DHFR CUX2 KCNT2 SYP SIK1 SMPD1 KCNA1 DMD SLC9A7 CNKSR2 AP2M1 CDKL5 RPS6KA3 MID2 NFKB2 LAMA2 GLUD1 SZT2 TBC1D24 NEUROD2 TSPAN7 TRIM8 SCN1B MECP2 GOSR2 MAPK10 USP9X NEXMIF SON SPATA5 MED12 ZNF81 SLC12A5 HP_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYMICROGYRIA GNB1 NSDHL SNAP29 RTTN LMAN2L KLHL15 POMT1 KIFBP CRADD RECQL4 PEX16 FKRP MAPK8IP3 LARGE1 LINS1 GMPPB TUBB3 SMO POMGNT2 PEX1 TUBA8 NPHP1 CSPP1 ARHGAP31 PAX6 FKTN PEX5 TUFM SLC45A1 SRD5A3 PEX6 B9D1 LAGE3 EML1 PEX26 GRIN1 TP53RK PI4KA USP18 PEX19 ZC3H14 CLIP1 TMTC3 GPSM2 MTOR INPP5E DCPS TCTN2 PEX10 KIAA0556 OCLN PIK3CA POMGNT1 KIF5C PIGC AKT3 FBXO31 MBOAT7 MED25 ARL3 SARS1 PEX12 TRAPPC9 ATP6V0A2 TCTN1 PHGDH CC2D1A CEP120 MED23 C2CD3 MKS1 POMT2 SUZ12 C12orf4 PIK3R2 AHI1 ARL13B HSD17B4 SRPX2 CEP104 EZR ACTG1 TUBB2B KATNB1 KIAA0586 ERCC1 TMEM237 CCND2 PEX14 NSUN2 CUL4B RAC1 TNIK MECP2 CCDC88A ATP6V1A ATN1 PEX11B TUBA1A COL3A1 CEP41 GRIK2 BICD2 BMPER DHCR24 FIG4 RAB3GAP2 ARMC9 FMN2 ZNHIT3 POMK COL4A1 CRPPA SF3B4 ADGRG1 DISC1 B3GALNT2 FRRS1L IBA57 WDR62 TUBB TBC1D20 PRSS12 KDM5B FH LAMC3 RXYLT1 PGAP1 MN1 WT1 TRRAP MAN1B1 TMEM67 RPGRIP1L RSRC1 TBC1D24 ST3GAL3 IQSEC1 RAB18 NDST1 PEX2 COL18A1 PEX13 HNMT METTL23 DAG1 WASHC4 ERMARD DHX37 POLR3A CPT2 TUSC3 B4GAT1 AIMP1 SUFU ATP6V1E1 PIBF1 PTEN GPHN EDC3 CRBN PEX3 TMX2 PSAT1 TECR CPLANE1 DOCK6 SCN3A HYLS1 SON ACTB EOMES HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY TYROBP ALS2 TARDBP SPG11 MATR3 CHCHD10 SETX GBE1 ALDH18A1 POLR3B TBK1 SIGMAR1 FUS SPG7 ERLIN2 POLR3A SQSTM1 VCP PNPLA6 C9orf72 HP_EPISODIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_ATAXIA CASK NFIX PIGQ PNKP DMXL2 CACNB4 KCNA1 SLC1A3 NEUROD2 STXBP1 TRIM8 SLC6A19 SLC2A1 SIK1 PDHA1 ATP1A3 ATP1A2 OTC ARX GNAO1 SCN2A CDKL5 SCN1B CACNA1A SLC25A22 PIGP HP_PORENCEPHALIC_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORENCEPHALIC_CYST KRAS COL4A1 RNASEH2A RBPJ DOCK6 ARHGAP31 NOTCH1 EOGT ADAR RNASEH2B ZNHIT3 TCTN3 NRAS IFIH1 TREX1 KIF1A SNRPB OFD1 HRAS SAMHD1 RNASEH2C DLL4 COL4A2 GPX4 LAMB1 FGFR1 HP_STATUS_EPILEPTICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS DEAF1 DNM1 TBC1D24 CTSD CCDC88A CHD2 SCN2A TICAM1 SYNJ1 ALDH7A1 BSCL2 NTRK2 GABRG2 TSC2 SCN3A GRIN2D NARS2 SLC13A5 ACTL6B EFHC1 GABRA1 DHCR24 FIG4 SLC6A1 SLC2A1 CLTC ATP1A3 CNKSR2 ALDH5A1 SCN1A ITPA POLG SLC1A2 CACNB4 COX7B ARV1 RNU4ATAC ATP6V1A CACNA1E NECAP1 KCNMA1 SZT2 ADGRV1 KCNT1 TRAK1 VAMP2 ST3GAL5 GRIA3 SCN8A KCNQ3 AARS1 STXBP1 HCCS JRK NHLRC1 UBA5 HCN1 WWOX CLCN2 SCN9A ATP6V0A2 FH PDSS2 SMARCA2 GABRD AP3B2 DIS3L2 CARS2 ECE1 EPM2A YWHAG CAD GRIA4 ATXN10 TWNK ATP1A1 SLC12A5 DNM1L PRODH PARS2 GABRA2 UNC93B1 EHMT1 TBK1 PCDH19 KCNA2 KIF11 PPP3CA GABRB2 CACNA1B TSC1 STX1B STRADA TIMM50 ARX AP2M1 FGF12 DHDDS UPB1 CYFIP2 CILK1 GABRA5 TLR3 TRAF3 PLPBP TRAPPC2L SLC19A3 NUS1 NDUFB11 PNPO QARS1 NEXMIF SCN1B EEF1A2 KCNB1 AMACR RHOBTB2 COG8 SYNGAP1 GPAA1 LMNB2 CACNA1A HP_ABNORMALITY_OF_THE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BASAL_GANGLIA PDGFRB NDUFS1 ATP13A2 NDUFAF6 LIPT1 HTT SUCLA2 LMAN2L SLC46A1 RANBP2 NDUFB8 ADH1C CRADD PDGFB POLR3A ERCC3 NDUFS8 MT-TF NADK2 TREX1 LINS1 NDUFA13 PDE10A SURF1 TBP ECHS1 COASY NDUFS7 ATR CASR ATXN8OS GLI3 TUBB3 PNPT1 PANK2 MT-ND1 MT-ND4 AUH PET100 NR4A2 ERCC8 SLC45A1 NDUFAF2 ATXN3 VPS13A LRRK2 HIBCH NUP62 COQ2 SAMHD1 WDR45 PRNP MT-TQ FAM111A RFT1 MMUT SCO2 NDUFS2 ZC3H14 CLIP1 CA2 RNASEH2B GNAS PDSS2 DCPS ADAR NDUFAF5 COQ8A MT-CO3 MT-ATP6 FTL PIGC CYB5A FBXO31 MED25 KIAA0586 PSMB8 VRK1 SARS1 MBOAT7 NDUFV1 TRAPPC9 GBA GTPBP3 CC2D1A GCH1 FOXRED1 MT-TS2 MED23 CNTNAP1 JAM2 SLC19A3 SDHA C12orf4 FOXP2 MICU1 EZR MT-ND5 CLPB MT-TH HTRA1 PRKN MAPT TYROBP NSUN2 TNIK TACO1 ETHE1 BSCL2 ERCC6 KCNQ2 XPR1 GJA1 TK2 GRIK2 SNCAIP ATXN2 AIFM1 NDUFA12 FMN2 NDUFV2 CYP2U1 ISG15 SLC30A10 TBCE FRRS1L ACVR1 PRSS12 KDM5B NANS TBCK IFIH1 SYT1 MT-CO1 PGAP1 MT-TW MAN1B1 RSRC1 PDHA1 JPH3 C19orf12 ST3GAL3 IQSEC1 ZEB2 MT-ND6 B3GALNT2 NDST1 COX15 PDE8B ASPA NDUFS3 NDUFS4 GFM1 FBXO7 HNMT DNAJC19 SLC20A2 METTL23 WASHC4 NDUFA10 MT-TL1 MT-ND3 RNASEH2C CPT2 MT-TK SNCA FA2H MTFMT TUSC3 MT-ND2 AIMP1 NDUFA2 TUBB2B MT-CO2 CSPP1 NDUFAF3 GNA11 RNASEH2A EDC3 NDUFA4 MT-TV TIMM8A CRBN NDE1 CYB5R3 TECR NDUFA9 DNM1L AP1S2 GLUD2 OPA1 HP_BASAL_GANGLIA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CALCIFICATION MT-CO2 TYROBP PDGFRB MT-ND6 GNA11 CA2 RNASEH2B GNAS MT-TS2 SLC46A1 ACVR1 ERCC6 XPR1 GJA1 MT-ND1 MT-ND4 PDGFB CYP2U1 SLC20A2 ERCC8 MT-CO3 JAM2 ERCC3 MT-CO1 MT-TF TREX1 IFIH1 MT-TW DNM1L MT-TQ FAM111A MT-ND5 MT-TL1 PSMB8 ISG15 CASR MT-TH SAMHD1 OPA1 HP_BROAD_BASED_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_BASED_GAIT SNX14 VLDLR PPM1D TRMT10A MECP2 CERT1 HACE1 SGCB SHANK3 XRCC4 RBM10 GPT2 GALC AP5Z1 HTT MYOT TPP1 MED12 UBE3A ATCAY COQ2 EXT2 PPP1R15B YWHAG DDX3X TOP3A RNF113A PURA UROC1 LMNA WDR26 PIEZO2 DEAF1 PIGL CCDC88C NRXN1 GBA2 PEX5 CDK10 RNU12 ADGRG1 DNAJC12 TMEM106B RAI1 KMT2A WASF1 CHD3 KCND3 SGCG TRPV4 RLIM PACS2 TKFC SMS TBP FLVCR1 MAN1B1 ZSWIM6 CAD CUL4B ZMPSTE24 ACTL6B THRA GTF2E2 SATB2 BCORL1 ITPR1 TRIM2 TBC1D23 HP_SUBARACHNOID_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBARACHNOID_HEMORRHAGE GP1BA TGFB3 ACTA2 ENG ANGPTL6 SMAD4 F10 ITGA2B ACVRL1 ITGB3 PRKG1 CD109 MAT2A GDF2 SMAD3 FBN1 MFAP5 TGFBR3 COL3A1 GP1BB TGFBR1 TGFB2 DOCK8 LOX FOXE3 TGFBR2 THSD1 ELN MYH11 MYLK ITGA2 HP_ARRHINENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARRHINENCEPHALY JMJD1C SEMA3E RNASEH2A VANGL1 CHD7 FUZ SEC24C FIG4 HIRA ADAR RNASEH2B RREB1 FANCB IFIH1 SF3B4 TREX1 SMOC1 SAMHD1 RNASEH2C HYLS1 GP1BB ARVCF TBX1 UFD1 VAC14 COMT TBC1D24 KIF7 GLI3 HP_ISCHEMIC_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ISCHEMIC_STROKE FBN1 MFAP5 COL4A1 ACVRL1 PIK3C2A TGFB3 ACTA2 TGFBR1 TGFB2 ENG LOX SON FOXE3 TGFBR2 ELN SMAD4 SLC2A10 PRKG1 GUCY1A1 MYH11 MYLK MAT2A SMAD3 HP_GAIT_IMBALANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_IMBALANCE RRM2B MAPT PINK1 PARK7 LIMK1 HK1 LRRK2 RFC2 SNCA HTRA2 BAZ1B ELN TAF1 BBS1 FLNC PUS3 MLXIPL GTF2I ALS2 RNASEH1 TBL2 VCP PMP22 ARL6 FXN TELO2 ATXN10 PODXL PIK3R5 CCDC28B PIGG VPS13C ERLIN2 GTF2IRD1 CLIP2 DEAF1 SYNJ1 UCHL1 TTBK2 ATP5F1D ATXN1 SETX PRKN DNAJC6 CHD4 HP_ABNORMALITY_OF_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINAL_CORD CCL2 BMS1 DNAJC3 RIPPLY2 FANCE CTBP1 GLI3 LIMK1 PHGDH MASP1 MINPP1 HAAO SMARCC2 SC5D ATXN3 FANCL ARID1B RECQL4 RFWD3 COMP GDF6 SMARCD1 MTR HES7 PLAU POLA1 TGFB2 ELN RELA BRIP1 SETD2 PORCN WASHC5 B3GALT6 AMER1 VHL SALL4 FGFRL1 LZTR1 HABP2 PDCD10 RUNX2 GCLC ACY1 MFN2 NRAS PTCH1 SOX11 COL2A1 RREB1 MPO SMARCB1 GDF3 FRAS1 AKT1 ACVRL1 FANCF HMGA2 BMP2 DNA2 MESP2 FKTN FOXE1 CCND1 FANCG GALNS ACTA2 CTNNB1 LOX TBX6 RMRP KCNH1 SLX4 FLI1 SMAD4 NF1 MAN2B1 PRKG1 POMGNT1 KIF1B GLB1 CHRNG RNASEH1 FREM2 FANCB H19 LETM1 FXN SNRPB FANCI NEK9 MNX1 TRAF7 FANCD2 ALDH18A1 ARVCF POLG KIAA0586 FANCA LMX1B CYP7B1 PNPLA6 MORC2 KDM1A IKBKG POMT1 CCT5 ARSB MTHFR PTPN11 RAI1 RAB23 FKRP TWNK CHN1 BAZ1B NOTCH2NLC SETX CCM2 FIBP XRCC2 CCBE1 SMARCA4 B3GLCT GNPTAB LEMD3 UBE2T HFE GMPPB TNFRSF11A GLRX5 GP1BB NF2 COLEC11 GTF2IRD1 ACTB UFD1 TMEM216 MYH11 DPF2 MTRR MYH3 RAD51 SLC26A2 DARS2 NOTCH2 SH2B1 PHEX FANCM RFC2 ERCC4 FLNB NOTCH3 ENG RAF1 LIG4 WNT7A ZIC1 HBB GTF2I INPP5E KIF22 CCNQ SMAD3 PAX3 MFAP5 EP300 DLL4 LFNG OFD1 VANGL1 EXT1 NSD2 B3GALNT2 IRF6 EXTL3 APOE ATXN2 CUL7 CLIP2 COMT SLC33A1 DACT1 FBLN1 JMJD1C COLEC10 EXT2 IGF2 PRPS1 TGFB3 MAFB ITGB4 LARGE1 PIK3CA FLNA NOS3 HIRA APC TRIM36 RAD51C PUF60 BRCA2 DKK1 NELFA APP A2M COL5A1 FBN1 FOXC2 VANGL2 CPLX1 NSUN2 TGFBR1 CREBBP GRIP1 IDS DDR2 IDUA NFIA TBX1 TBC1D24 MSX2 DLL3 TRPV4 BRCA1 ALX4 BMPER RRM2B SOX4 MTHFD1 MAD2L2 FANCC COL1A1 C11orf95 TBL2 NAXE ARID1A PLEC ABCA1 BRAF RBM8A SMARCE1 SPG7 LMNB1 GJB2 MEOX1 PTCH2 TGFBR2 FA2H MYLK KCNQ1OT1 TBXT COL5A2 CSPP1 CEP290 ARID2 SEC24C TNXB FUZ SLC25A19 ATXN1 ZSWIM6 PLP1 PSAT1 MAT2A GJB1 POMT2 KRIT1 TDP1 FLVCR1 PRMT7 RTN2 FOXE3 GTF2E2 GNAS PALB2 SUFU HP_FRONTOTEMPORAL_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_DEMENTIA PSEN2 TARDBP C9orf72 HNRNPA2B1 PLA2G6 CHCHD10 HNRNPA1 MAPT SQSTM1 ABCA7 APP TOMM40 PSEN1 CHMP2B VCP SORL1 GRN TREM2 DCTN1 TBK1 TUBA4A TMEM106B PRKAR1B FUS UBQLN2 ZFYVE26 HP_HYPOPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIA GATM VDR SLC34A1 PHEX COL4A3 FAH NAB2 SLC34A3 CLCN5 ALDOB CACNA1S INPPL1 FAM20C GCM2 NRAS CTNS KRAS CDC73 ABCC6 TCIRG1 FGF23 PTH1R DMP1 CASR SLC2A2 SLC9A3R1 AP2S1 ENPP1 TNFSF11 KCNJ18 CYP2R1 HRAS SUCLG1 GNAS STAT6 SNX10 CLCN7 HNF4A OCRL MEN1 FAM111A CYP27B1 GABRA3 HP_HYPERCALCIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCALCIURIA SLC34A1 LIMK1 RFC2 KCNJ1 ELN INSR ADCY10 CLDN16 GCM2 MLXIPL SLC34A3 GTF2I CLCN5 TBL2 AMMECR1 OCRL ATP7B CDKN1C PIGT PIK3C2A ALPL SLC12A1 CDC73 CLIP2 FCGR2A CASR PTH1R HLA-DRB1 TGFB1 KCNJ5 GNA11 BAZ1B CLDN19 BTNL2 MEN1 CFTR GTF2IRD1 CYP24A1 MAGED2 HP_INCREASED_SERUM_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_LACTATE NDUFS1 SCO1 NDUFAF6 LIPT1 MICOS13 SYNJ1 NDUFB8 NARS2 SURF1 TSFM TACO1 NDUFS8 MT-TF PNPLA8 ECHS1 NDUFA13 NDUFS7 NDUFAF1 RRM2B TK2 PET100 ISCA1 MRPS14 MRPL44 MRPS22 PNPT1 MT-ND1 MT-ND4 ATPAF2 TUFM WARS2 POLG2 NDUFAF2 TWNK HIBCH CYC1 COQ2 COX10 C1QBP MT-TQ GYS2 PC SLC7A7 AGK RARS2 SCO2 NDUFS2 MT-TI HTRA2 MRPS16 MDH2 POLG PDSS2 MT-TW SFXN4 COA8 LIPT2 CHCHD10 TARS2 NDUFAF5 COQ8A MT-CO3 MT-ATP6 TIMM50 COX8A FARS2 SERAC1 COQ4 GFM2 BCS1L CA5A SDHAF1 OGDH PMPCB NDUFV1 LRPPRC NDUFA11 FOXRED1 MT-TS2 UQCRB NDUFB9 HS6ST2 ISCU UQCC3 OCRL MT-TK PNPO SDHA DGUOK EARS2 MT-TN ATAD3A COQ9 ACAT1 MT-ND5 CLPB RMND1 MIPEP MT-TH LIAS SLC19A3 DARS2 TANGO2 MT-TL1 RARS1 COX6B1 YARS2 COX14 AIFM1 NDUFA12 RNASEH1 NDUFV2 MT-TP TXN2 NDUFA1 LYRM7 COA3 TMEM70 MT-TL2 TRMT5 NDUFS3 COX15 GTPBP3 MRPS34 UQCRC2 CARS2 UQCRQ MT-CO1 MRPL3 TMEM126B ACAT2 PDHA1 MPC1 MT-ND6 SDHD MECP2 GOT2 HMGCL NDUFA9 NDUFS4 FBXL4 GFM1 DNAJC19 SLC25A3 NAXE NDUFA10 ADAMTS13 DLD MT-ND3 MTFMT MT-ND2 NDUFA2 PUS1 MT-CO2 NDUFAF3 COX20 PYGL ACAD9 NDUFA4 LDHA MT-TV NGLY1 SLC25A26 PDSS1 TRMU C12orf65 SLC25A42 TRMT10C SLC25A4 MTO1 AARS2 FDX2 HP_HYPERKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKALEMIA CYP11B2 STAR MRAP SCNN1B HSD3B2 WNK4 KCNJ18 NNT SCN4A LPIN1 CYP11A1 SCNN1G INVS CACNA1S SCNN1A NR3C2 TXNRD2 SLC2A1 KLHL3 RYR1 CYP11B1 MC2R CA12 SLC30A9 ABCB6 WNK1 SAMD9 CUL3 GABRA3 HP_HYPERTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRIGLYCERIDEMIA PLIN1 JAG1 CAV1 PRF1 PIGH BSCL2 PSMB9 PHKA2 SGPL1 SLC25A13 EMD PIGT PPARG LCAT XRCC4 ALMS1 TMEM43 XIAP DEAF1 LMNA APOE RAI1 SYNE2 SLC29A3 STXBP2 AKT2 TTPA LEP AEBP1 PHKG2 LRP6 LIPE SMPD1 LIPC AGL SYNE1 FLII LPL LEPR CIDEC PLVAP POLD1 FHL1 GPD1 HAVCR2 STX11 CYP7A1 ABCA1 CEP19 RSPO1 POLR3A APOA5 PSMB8 AGPAT2 PSMB4 PNPLA2 APOC2 LIPA MC4R IQSEC2 SLC7A7 CAVIN1 LDLRAP1 FOS ABHD5 GK ZMPSTE24 UNC13D NSMCE2 FECH PYGL HP_HOMOCYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOMOCYSTINURIA MTHFR MTR PRDX1 MTRR LMBRD1 ABCD4 CBS HCFC1 MMADHC MMACHC HP_HEPARAN_SULFATE_EXCRETION_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE VPS33A NAGLU SGSH HYAL1 HGSNAT GUSB IDS GNS HP_HYPERHOMOCYSTINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHOMOCYSTINEMIA MTHFR MTR PRDX1 AHCY MTRR LMBRD1 ABCD4 CBS MMADHC MMACHC HP_LOW_POSTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_POSTERIOR_HAIRLINE CTBP1 CHST3 SMARCD1 PPP1CB MYO18B NOTCH3 RAB3GAP1 GDF6 A2ML1 MAP2K1 EP300 RRAS2 NSD2 MAP2K2 RASA2 APC SRCAP IRX5 NIPBL GNE FGFRL1 NFIX SHOC2 MAFB NANS NELFA TBX15 KRAS GDF3 UBE2A SRY CPLX1 BRAF CREBBP KCNJ8 WASHC5 SPRED1 TMCO1 PHF8 SOS1 SMC3 ACTB SETD5 TFAP2A PTPN11 LZTR1 B3GAT3 MRAS SLC25A24 CHRNG LETM1 RAF1 RAD21 IGF1 PIK3C2A RAB3GAP2 EFNB1 NF1 MEOX1 XYLT2 ABCC9 NRAS KMT2A AEBP1 HUWE1 RIT1 CHN1 INTU CCDC22 CBL RRAS PEPD SALL4 ANKRD11 SMC1A ACTG1 HDAC8 SOS2 ALDOA MYH3 HP_NAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSPLASIA PLEC NHP2 COL7A1 SHANK3 CTBP1 LRP4 RNU4ATAC MPLKIP KRT17 IL17F IL17RC TERT KRT81 IL36RN TP63 GPC3 SETBP1 PEX7 WDR35 RPS6KA3 CTSK SOST TFAP2A LPAR6 PORCN KRT5 ABCA1 DYNC2LI1 GTF2H5 GLI3 FZD6 INSR FGFRL1 FZD2 EDA ATR FLNA LAMC2 SMARCD2 ECE1 EVC GJB6 UBE2A ROR2 BMP2 HLA-C COL17A1 KRT14 EOGT FERMT1 NECTIN1 HRAS GTF2E2 RNF113A NXN IFT43 PHYH GPC4 IKBKG LAMA3 TINF2 DVL1 SOX18 MBTPS2 NFKB2 LMX1B SLC39A4 LAMB3 PTDSS1 IL11RA EVC2 TAF1 KRT86 EXT2 VEGFC WNT5A BHLHA9 PLOD3 TRAF3IP2 DVL3 LETM1 FAM111B KRT85 CTC1 ITGB4 RIPK4 FLT4 WNT7A ALG3 DSP NSD2 STIM1 FOXN1 ITGA6 LMNA ANTXR1 GJB2 EZH2 ERCC3 PIGV WNT10A TRPV3 PLCD1 DKC1 GJC2 GLI1 STXBP1 SRY CPLX1 TGM1 EDAR TRRAP MMP1 ERCC2 KIF22 TBC1D24 WRAP53 POP1 NSD1 ORC1 POC1A ATP2A2 DPM1 BMP4 TARS1 TRPS1 SUZ12 ATL1 POMP NTRK1 IL17RA TERC GJA1 FHL1 NOP10 KCTD1 MSX1 EFNB1 IHH KRT83 ARX EDARADD ZMPSTE24 CLEC7A HOXC13 SLURP1 SATB2 EED HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS SAMD9L BSCL2 CACNA1G PDK3 DARS2 HSPD1 MT-ATP6 SPAST SACS B4GALNT1 GBA2 REEP2 HARS1 PRKCG HINT1 ALDH18A1 FLRT1 VCP KLHL9 KIF5A PEX6 POLR3A SPG7 PDYN WASHC5 RTN2 SLC33A1 KLC2 WDR48 GCH1 SLC52A2 KCND3 NIPA1 SPG11 CYP7B1 ATL1 FLVCR1 TDP1 SCO2 VAMP1 ABCD1 ARSI CPT1C HP_NEUROLOGICAL_SPEECH_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROLOGICAL_SPEECH_IMPAIRMENT STIM1 PDGFRB MICOS13 VPS11 CAMTA1 SLC1A4 CHD2 PIGH CLCN4 LMAN2L TSC2 FRMD4A NKX6-2 FMR1 KCNAB2 ERLIN1 TOMM40 RUBCN DMXL2 HEPHL1 TCF4 EPCAM NF1 SPTBN2 GPC3 RRAS2 CLP1 SASS6 ATP1A3 PLPBP UPF3B SACS TBP COASY NDUFS7 ATRX MAPT SETBP1 TK2 SLC1A2 MED25 SLC2A1 SCN8A CHMP1A ATM ARHGEF6 MTRR HCCS CACNB4 SNCA RAB3GAP2 CHMP2B NFIX MT-ND4 PDGFB MLH3 GFPT1 ATP2B3 MSH2 NCAPG2 NR4A2 ALDH7A1 KCNQ3 IREB2 ANOS1 VPS13A EEF1A2 TRIM32 CFH NUP62 ELOVL1 MTHFS KCNK4 WDR45 GJA1 ARX AKT1 ERCC3 TTPA NDUFAF6 DYNC1I2 EGF PNPLA6 RPIA RNF113A ZC3H14 RAI1 ATP6AP2 L2HGDH KCNH1 COQ2 XRCC4 CAMK2B GATAD2B GNAS GPR88 HDAC8 REEP1 MRAS STUB1 MECP2 KCNC3 ALDH18A1 SARDH TIMM50 BRAF BBS4 MAG TREX1 RAD21 NEDD4L HGSNAT SERAC1 CASK NALCN PURA FLCN RPS6KA3 LRP12 BCS1L SCARB2 ARSA SQSTM1 PLP1 MME WFS1 TRAPPC11 SLC39A14 FA2H BRF1 MTPAP NDUFV1 DDHD2 TRAPPC9 RFC1 GEMIN4 WDR45B COA7 FLRT3 HDC SLC25A11 SLC9A1 CHD3 KISS1R MED23 GMPPB MPL FBXL3 ABHD12 JAM2 OCRL ZSWIM6 SDHA DGUOK DCAF17 ACTL6B ATXN8OS SUFU NEXMIF ERCC4 FAM126A COLQ ATAD3A TUBB4A UBQLN2 GTF2IRD1 COG8 UFD1 NF2 ZFYVE26 HNRNPA2B1 NPC1 CTC1 AP4B1 HACE1 MRE11 GAMT TARDBP RAC1 ATP6V1B2 RARS1 SDHD KCTD7 PSAP PLA2G6 TTC19 ALS2 NTRK2 AGRN CLN5 POLG SPG11 SMO DLST SELENOI MACF1 SLC9A6 SNCAIP PRKCG PPP2R5D DCC PEX2 ATP7B PLD3 PRDM8 SCN1A BAP1 B3GALNT2 KIF14 EXTL3 DEAF1 SPG7 CC2D1A CACNA2D2 FOXP2 CLIP2 COMT DRD3 HESX1 KLC2 SIL1 PIK3R5 FRRS1L GJC2 TRMT5 ATP13A2 TAF2 NOP56 PCGF2 NEK1 KDM5B ERLIN2 DMPK HIRA GNAO1 ADAR MRPS34 TBCK IQSEC2 IFIH1 CARS2 UQCRQ PGAP1 MSH6 PMS1 CFHR1 ERCC2 TPK1 MN1 ATP1A2 DIAPH1 MAN1B1 OPA3 UGP2 SLC25A1 ZNF41 IQSEC1 FAT2 SOS1 RAB39B EZH2 UNC93B1 DNAJC6 IRF2BPL MDH2 GSN MT-ND6 CIC RRM2B DNMT3A GALC EEF2 TRIO LMNB1 PROKR2 ASPA HMGCL KCNK9 APP ATXN7 PPP2R1A GATA4 PRKRA CHAMP1 SPART SYP PSEN1 NDST1 VPS13B PACS1 NDUFA10 NDUFS1 RAF1 TANGO2 RFXANK EIF2B1 FUS SLC18A3 SLC9A7 CHSY1 PIK3R1 KIAA1109 NKX2-1 MTFMT RPS20 SRPX2 USP7 KMT2A AGA HUWE1 AR NOTCH3 BRAT1 KCNA1 RPL10 RIT1 TREM2 CCDC88C NDUFA4 SLC35C1 FTL CRBN GDAP2 KCNA2 HIVEP2 EIF2S3 EYA1 GJB1 PEX10 AMACR ADA2 NR2F1 DLAT CWF19L1 MT-TL1 MED12 MTO1 GABBR2 FGF14 SLC33A1 TRIT1 ASAH1 DCTN1 ITPR1 PLEC C9orf72 NSDHL EIF2B3 CHRNA1 CHCHD10 GRM1 RTTN ATXN10 SDHB VHL STRADA GBA2 NGLY1 PRICKLE1 PMS2 A2ML1 ADSL BEAN1 MT-TF TFAP2A CCDC28B NDUFA13 PDE10A GRIN1 SPATA5 TUBB3 HCFC1 MYOT PRDM16 EDA BBS5 SLC18A2 B4GALNT1 DYM MANBA PIK3CA MFN2 MT-ND1 HNRNPU PIGC SLC26A4 ORAI1 HS6ST1 COG4 RREB1 LAS1L SLC45A1 AP4M1 CAD UBE3B JPH3 GRID2 THAP1 NAXD SLC39A8 PIGG XRCC1 NACC1 DCX ABCD1 PNPT1 TMCO1 DCPS VAMP1 FMN2 TRIM37 HAL PIGP ADPRS ALG9 FKTN TRMT10A POMK MKS1 UBA5 GBA NFASC UBE3A MAN2B1 PPT1 POMGNT1 POLR3B RNF216 TAT TGFBR2 MARS2 AFG3L2 SLC30A10 DAB1 PEX6 FXN HLA-B PIGW PLEKHG4 CNKSR2 NEU1 TMEM106B PDYN SPR POMT1 COX10 FBXO7 SEMA4A ATP6V0A2 TWNK POLG2 BCL11B NAA10 TMEM240 BAZ1B MT-TS2 EIF2B5 TBC1D24 RYR1 CAPN1 TRAF3 HS6ST2 CYP7B1 TOE1 BCOR SAMD9L ATXN3 SYNJ1 TRAF7 WDPCP TRAPPC2L C12orf4 EARS2 ZDHHC9 L1CAM GP1BB RHOBTB2 UBTF NONO CACNA1G GRN ACTG1 GRIN2D BBS12 SIGMAR1 TYROBP ENTPD1 PTCHD1 ACSL4 TNIK SLC16A2 TACO1 PGAP2 MMUT IFT27 VCP SDCCAG8 BMPR1A SLC6A1 SMC3 VWA3B TBK1 CACNA1A MAP2K2 MECR NDUFV2 KIF15 GRIN2A GNPTAB TACR3 UROC1 WDR26 IL12B COL6A3 CACNA1E COL1A2 NDUFA6 SURF1 AP4S1 BBS7 HOXB1 TBCE PRPS1 PIGV STXBP1 TCOF1 SLC52A2 TAF6 ALG13 AAAS FH RLIM KIF1C PUF60 KRAS PAK3 SMARCB1 PGM3 DUSP6 PRNP CDC42 TBX1 PDHA1 TBL1XR1 BBS1 CNTNAP2 HPCA MLH1 FLII SETD5 OTUD6B HIKESHI FRMPD4 LZTR1 CCDC22 KCNA4 ATXN2 NSMF DOCK7 ABCA7 DDOST NDUFA9 NDUFS2 CHAT TSC1 SLC20A2 FLRT1 ELOVL4 OPTN SLC6A17 C8orf37 NPHP1 PPP2R2B DMD CXCR4 GABRD ADK TBCD GRIN2B FOXRED1 GALT WDR73 ATP6V1E1 RNU12 CSPP1 RNASEH2A UPB1 ATXN1 SMARCE1 RRAS C12orf65 IFT172 CUL4B NDUFB11 POMT2 GM2A ZC4H2 TDP1 PDE8B SCN3A MCOLN1 RNASET2 KCND3 DNAJB2 MRPS2 TGFB1 SLC30A9 FEZF1 CLIC2 CFHR3 ZNF81 NCAPD2 SNX14 SMS GLE1 CCDC47 HEPACAM LIMK1 LIPT1 MPLKIP KLHL15 EIF2B4 STS JAK2 NARS2 FOXG1 ARL6 NUS1 NUBPL TPP1 ELN NDUFS8 GSS MLX AARS2 DPM2 PNPLA8 MYH3 SYT14 ECHS1 CPLX1 MED13L PRPH THPO GNAQ SMC1A FGF8 KMT2B TTBK2 C19orf12 CP ADD3 ELP2 ALG11 UFM1 PCNA KCTD17 ZNF592 VAPB PPP3CA KANSL1 PET100 SLC17A5 ERCC8 NDUFAF2 SLC5A7 TGM6 TELO2 KIF1A HSD17B10 MT-TQ KCNB1 POLR1D GCLC IL1RAPL1 RARS2 DENND5A CLIP1 SMARCA2 PSEN2 TMTC3 MTOR SRCAP FOXI1 ELOVL5 COL13A1 GPC4 LIPT2 UFC1 ATCAY PABPN1 FKRP MT-CO3 DNAJB6 NTNG2 UNC80 PIGN ARVCF FBXO31 GFM2 MBOAT7 MID2 KIAA0586 CKAP2L RERE UQCC2 HBA1 APTX PRRT2 SKI HNRNPH2 CISD2 CCDC141 EXT2 PUS3 TSPAN7 PODXL DHX30 KAT6A C2CD3 SYNE1 RNASEH2B HERC1 GLRX5 FARS2 PFN1 CLN3 ASXL3 TECPR2 HNRNPK ADAMTS2 SOS2 SPTBN4 MT-TH NAGS FGF12 SLC19A3 TBC1D23 VLDLR DARS2 MYO9A GPT2 RET RFC2 INPP5K XPR1 SNAP25 MYORG BBS10 GABRB2 GCDH SOX10 NDUFAF5 NDUFA12 RNASEH1 GABRG2 ACOX1 BBS9 PNKD LNPK BBS2 KCNQ5 ISCA2 XK LYRM7 OPHN1 FBLN1 CHRNE JMJD1C ST3GAL5 ZBTB18 LZTFL1 PRSS12 MGME1 USP27X CHKB ANO10 AP3B2 SOD1 SYT1 NECTIN1 EPM2A CSTB MT-CO1 PAX1 GRHL3 POLR1C TRRAP RAB11B MT-ND5 RSRC1 ASH1L ST3GAL3 TIMM8A ZEB2 EHMT1 SLC35A1 CNNM2 TOR1A TARS1 ZNF711 KCNMA1 ZBTB11 COX15 TCTN2 STX16 MKKS AP4E1 MFF MT-ATP6 FGF17 CSNK2A1 GDI1 ARG1 RNASEH2C PYCR2 TTN TUSC3 CPT1A DAG1 PPP1R15B CIITA AIMP1 NDUFA2 AP1S2 SATB2 ALDH3A2 MT-CO2 HPRT1 GNAL ADCY5 EDC3 SEC24C ATL1 COL1A1 NSUN2 MAGEL2 BMP4 SNORD118 SYT2 SPRY4 SLC25A12 SLC25A4 SLITRK1 MFSD2A ABCB7 TTC8 AMER1 NEFH PNKP HNRNPA1 ATP6V1A FGFR1 RANBP2 SDHAF2 ADH1C SLC25A13 CRADD CTNNA2 SHROOM4 FTSJ1 POLR3A CSF1R PARS2 LINS1 TOP3A COX7B VPS13D WIPI2 NIPBL GTF2H5 WDR11 MATR3 HSPG2 PANK2 GNS TMEM231 HSD17B4 CXorf56 WARS2 BSCL2 INTS1 ATP8A2 AUH ZNF148 SPEG UBE2A SDHC SIK1 SERPINI1 IL17RD SCN2A ADNP SAMHD1 KCNJ10 CA8 HTT PAX6 GTF2E2 CIZ1 LINGO1 CTNNB1 RFXAP AIMP2 NPC2 YY1 NRXN1 GPAA1 SEPTIN9 HTRA1 KIF5C CYP27A1 SLC13A5 AP2M1 PAK1 PIGA MORC2 GAN CAMK2A SARS1 NRAS SPG21 PMPCB ATN1 BIN1 YME1L1 EPAS1 MAP2K1 EXOSC3 NOTCH2NLC KCNQ2 TLR3 DNAAF4 CBL EIF2B2 GOSR2 REPS1 SCO2 CYFIP2 EZR RMND1 CEP290 FAN1 PUM1 VPS33A ERCC5 CRYAB CCDC88A DNM1 TICAM1 TERT TTR UBB SLC13A3 GRIK2 GTF2I SORL1 DEGS1 PTEN KIF4A APC2 SOBP RASA2 PMPCA PIEZO2 POGZ NHLRC1 SCYL1 LARGE1 AGTR2 SLC6A3 CCND2 HERC2 HEXB GRIA4 CTSF MT-TW TMEM127 GATA2 EBF3 MPDU1 PROK2 WDR4 WASHC5 PTPN11 GOT2 SET ABCA2 SPAST SLC1A3 NDUFS3 DLG3 NDUFS4 HNMT HLA-DQB1 METTL23 WASHC4 TBL2 CACNA1B MAX SETX KIF1B MT-TE PEX16 IFRD1 SEMA3A BBIP1 GDF5 WWOX CHD7 TECR TKT STAC3 USP9X TBXAS1 RFX5 ACTB GUSB GLUD2 HBA2 WDR81 TUBA8 HP_SCANNING_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCANNING_SPEECH CP ITPR1 ATXN10 TMEM240 COQ2 TPP1 SACS ATXN1 PLP1 PAX6 CCDC88C PNPLA6 DAB1 HP_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONUS SAMD9L TANGO2 HIKESHI ERLIN1 RAB18 POMT2 UCHL1 PRPS1 SELENOI REEP1 TSEN2 SPAST SLC1A4 UFC1 GBA2 SPART CAPN1 MED17 KIF5A TIMM50 SLC6A9 POU3F4 VPS37A OSTM1 SEPSECS KIF1A PLPBP POMGNT1 CCT5 POMT1 BRAT1 FA2H GMPPB CYP7B1 PRUNE1 SLC52A3 WASHC5 PTS RTN2 POMK SLC33A1 SLC39A14 KCNT1 ZFYVE27 PIGT TRAK1 SLC25A15 STUB1 ZFYVE26 CAV1 ADGRG1 AMPD2 ANO10 SETX NIPA1 PSAP TIMM8A GALC ATL1 NDP C12orf65 SPG11 KIF1C USP8 OCRL ATP6AP2 KDM1A HTT PC SLC25A21 ERLIN2 ABCB7 FKRP SLC16A2 PIGP HP_INTRACRANIAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_HEMORRHAGE FGA JAK2 SDHD BAP1 RET VHL TERT F7 ENG SMO WIPF1 DLST SDHB SDHAF2 CCM2 SH2B3 GDF2 SMAD3 NF1 NOTCH3 MFAP5 GCDH PTEN TGFBR3 APP TGFB3 FGB PCCB ATP7A LOX ELN PDCD10 TMEM127 SAMD9 SPARC WAS RNF168 GP1BA F2 F10 CBS CYP26C1 IVD PIK3CA ITGB3 SMAD4 CFH ACVRL1 CYP11B2 GDNF FBN1 SMARCB1 SDHC FH COL3A1 LMNA TGFBR1 TGFB2 PROS1 DOCK8 AKT1 FN1 MMUT F5 GATA2 USP18 CFI ITGA2 MDH2 ITGA2B DNMT3A CST3 ACTA2 LMAN1 PCCA PRKG1 FCGR2C SDHA F8 GP1BB SERPINF2 HELLPAR ALPL CPT2 MAX COL4A2 TGFBR2 KIF1B COLGALT1 MYLK EPAS1 COL4A1 F13A1 ACAD9 KRIT1 PDGFB SLC25A11 ANGPTL6 GBA GNAQ NDE1 SMARCE1 CD46 KCNJ5 CD109 CYP11B1 MAT2A TRAF7 CACNA1D SUFU ABCC6 ADA2 PMM2 FOXE3 THSD1 FGG MCFD2 F13B NF2 MYH11 HP_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOSIS MAPT TYROBP PAX2 TARDBP DNAJC13 THOC2 EIF2B3 SNCA CHCHD10 ETFB EIF2B4 RANBP2 CSF1R NDUFB8 GBA ATXN3 NARS2 ADH1C MOCS2 SURF1 NGLY1 SNCAIP LRRK2 ATXN2 TBK1 POLG SDHA PMPCA BRAT1 TBP ZNF335 ATXN8OS AP4M1 KCNT1 FUS PRNP TSEN54 ERCC6 COX15 NR4A2 PLA2G6 SERPINI1 NUP62 NAXD GIGYF2 C9orf72 SCO2 NDUFS2 L2HGDH AVP TBCD TLR3 ETFDH LMNB1 YY1 ADAR MAN2B1 FBXO7 ATP6V1A MT-ATP6 FARS2 EIF2B1 PIGA BCS1L VRK1 SQSTM1 VCP ARX COX10 LRPPRC NDUFAF3 EIF2B5 GDAP2 TFG VPS35 ETFA EIF2B2 HTT EIF4G1 MOCS1 HSD17B4 UBQLN2 GRN GLUD2 PSEN1 PRKN HP_POSTURAL_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_INSTABILITY MAPT PDGFRB COQ2 PINK1 DNAJC13 VPS35 ATP13A2 LRRK2 PLA2G6 SNCA PNKP CSF1R ADAT3 GBA ATXN3 ADH1C FBXO7 DDHD1 PDGFB SNCAIP SLC20A2 ATXN2 SLC30A10 DNAJC6 COL4A1 KCNC3 RNASEH1 TRPC3 CXCR4 ALDH18A1 VPS13C TBP SYNJ1 ATXN8OS UCHL1 PRKAR1B ABCC6 STUB1 RFC1 CACNA1A PARK7 HTRA2 KCND3 TIMM8A ENPP1 GARS1 KCNA1 PODXL CACNB4 GIGYF2 NR4A2 EIF4G1 ATP1A3 TAF1 C19orf12 RUBCN GLUD2 PRKN HP_HYPOGLYCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_SEIZURES STAR TANGO2 MRAP PHKA2 PROP1 TBX19 MC2R HADH GLUD1 POGZ PHKG2 INSR SLC16A1 PCSK1 ABCC8 POMC NNT AKT2 GCK TXNRD2 HP_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_TREMOR CACNA1G ITPR1 MT-ND6 TH COQ2 TENM4 ATP13A2 ATXN2 MT-ND4L PARK7 PMP22 TPP1 MT-ND1 REEP2 MT-CYB PRKRA ALDH18A1 MT-ND4 POLR3B POLR3A GCH1 FMR1 MPZ MT-ND5 SCARB2 COL6A3 DRD3 MT-ATP6 ANO3 MT-ND2 FGF14 FUS ATXN1 BSCL2 STUB1 OPA3 NIPA1 MT-CO1 TMEM240 MT-CO3 PPP2R2B MFN2 VAPB CARS2 PIK3R5 TUBB4A KCND3 NDUFS2 SETX HP_SPINAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_COMPRESSION FOXE1 AKT1 CCND1 HABP2 PHEX DNA2 FLNB IDS MINPP1 EXTL3 RMRP DDR2 IDUA GNAS TRPV4 B3GALT6 KIF1B HBB APC COMP SLC26A2 HP_OPISTHOTONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPISTHOTONUS GLYCTK CYB5R3 VPS53 PHGDH GPHN HPRT1 CARS2 TSEN2 TSEN54 PSAP ALG11 GALC NDE1 KCNJ6 MOCS2 PANK2 TUFM OPA1 GBA PSAT1 MOCS1 MCCC1 SETBP1 ASPA UGDH EXTL3 MCCC2 ACP2 CRLF1 CLPB ADSL PTS GCDH HP_NEURODEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURODEGENERATION IDUA PANK2 PFN1 COASY OPTN UCHL1 TTC19 PDE8B DAO NARS2 CHMP2B ANG C9orf72 GLT8D1 VAPB CFAP410 UNC13A DCTN1 TREX1 TBK1 TANGO2 GM2A CSF1R FTL UBTF RNASEH2C PON2 PON1 AARS2 TREM2 GALC ZBTB20 ANXA11 PPARGC1A FA2H PCNA NEFH HNRNPA1 RNASEH2A SOD1 LYST WDR45 C19orf12 FIG4 ERBB4 UBQLN2 NBN TAF15 PRPH MAPT MFSD8 SQSTM1 ADAR RNASEH2B EPHA4 ATXN2 ATXN3 VCP IFIH1 PLA2G6 TARDBP FUS TXN2 SAMHD1 NAXD GLE1 IDS FOLR1 ABCD1 CHCHD10 MATR3 COQ2 PON3 PRNP GUSB NEK1 CCNF HP_CEREBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_EDEMA RANBP2 SMS TBK1 ACAD9 BCKDHB TICAM1 NDUFS4 TLR3 KCNQ2 SLC25A13 TRAF3 BCKDHA CPS1 NAXE ASL ASS1 NAXD CPT2 OTC ACADM DBT LAMA2 UNC93B1 HP_PHONOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHONOPHOBIA EP300 ELN LIMK1 RFC2 CREBBP TNF BAZ1B GTF2IRD1 SLC1A3 CLIP2 EDNRA ESR1 MLXIPL GTF2I TBL2 HP_NEUROFIBRILLARY_TANGLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBRILLARY_TANGLES PSEN2 PLA2G6 NPC2 ABCA7 APP TOMM40 APOE MAPT NOS3 SORL1 TREM2 MPO A2M HFE PLAU ITM2B PSEN1 VPS13C GRN PRNP NPC1 HP_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APRAXIA SNX14 GBA PIGY NKX2-1 TMEM231 CHCHD10 PNKP PDX1 TREX1 ABCC8 IFT172 CHD1 TOMM40 NGLY1 TREM2 KCNJ11 CC2D2A AARS2 MAPT PSEN1 STAT3 TUBB3 FUS PTPN22 PLA2G6 CACNA1G CD247 EPM2A CHMP2B NPHP1 CEP41 CSPP1 LAMA1 B9D1 PIK3R5 XRCC1 PRNP PSEN2 ATP6AP2 USP7 XRCC4 INPP5E TMEM107 ZC4H2 TCTN2 GPAA1 TMEM67 KIAA0556 IL2RA UFC1 AFG3L2 GRN SMPD1 INS RPGRIP1L ARL3 KIAA0586 SPR KDM6B SQSTM1 KDM1A TMEM138 SPG21 MAPK1 APTX ANKRD55 TCTN1 EXOSC3 MED13 CHD3 CEP120 UBE3A CEP290 APOE MYO9A TOE1 TRAPPC11 SYNJ1 TBP MKS1 AHI1 ARL13B FOXP2 NHLRC1 SRPX2 NONO CEP104 PIGV TYROBP C9orf72 TMEM237 MRE11 TARDBP PANK2 TMEM216 GRIN2A TTC19 TPP1 CSF1R VCP SORL1 PEX2 FOXP1 SLC2A1 TBK1 ARMC9 ATP13A2 ATXN2 BRAF GCK RORA CRKL SLC25A15 ZFP57 VPS11 PIGO PIGL BCR PTPN2 FOXG1 SPART DNM1L ATP1A2 EBF3 MAST1 IL2RB MECP2 STAT4 ABCA7 PIBF1 DDOST APP PACS1 RNF135 PLAGL1 PIGW KIAA1109 FA2H SETX TUBB2B SUFU GALT STUB1 TIMM8A GRID2 HYMAI TMEM106B CPLANE1 RAI1 PGAP3 HYLS1 DLAT CWF19L1 SLC30A9 PGAP2 ITPR1 HP_INTELLECTUAL_DISABILITY_PROFOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROFOUND PTCHD1 ACSL4 SMS CCDC88A ATP6V1A CLCN4 SYNJ1 POMT1 SLC9A6 NGLY1 FTSJ1 FKRP SPTAN1 USP27X UBTF PIK3R2 TREX1 UPF3B RNF113A ARV1 ADAM22 ZNHIT3 POMT2 SETBP1 EMC1 SLC1A2 FGFR3 RAB39B HCFC1 CLIC2 PCDH12 ARHGEF6 CDKL5 TUBA8 ERCC6 FKTN ALG13 GUF1 CXorf56 AGTR2 FH CNPY3 ADAR PUS3 IQSEC2 IFIH1 PAK3 SAMHD1 SLC39A8 PIGG IDS ARX UGP2 ZNF41 IL1RAPL1 CRPPA PIGP FRMPD4 VPS53 AIMP2 RAB18 ZNF711 PRPS1 ASXL1 DLG3 OCLN SYP POMGNT1 NDE1 LARGE1 GDI1 SEPSECS UNC80 DMD RNASEH2C OFD1 SLC9A7 ELOVL4 CNKSR2 PCDH19 RPS6KA3 STRA6 MID2 TBCD TRAPPC4 NACC1 ST3GAL3 ATP6V1E1 RNASEH2A VARS1 ATP6V0A2 WDR45B ATIC KCNJ6 TSPAN7 AP1S2 MECP2 RNASEH2B USP9X BUB1B IER3IP1 ASXL3 MED12 SHROOM4 HSPD1 ZNF81 DPM3 HP_DELAYED_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CNS_MYELINATION D2HGDH SHANK3 VPS11 CTNNB1 UPB1 BMP4 ACTL6B LMX1B TKFC STXBP1 ACY1 NUP188 DHX37 RBM8A SLC12A5 UGDH ITPA SMG9 TBC1D24 AIFM1 TXN2 POGZ RERE MMUT KDM1A CLTCL1 SLC16A2 PEX7 ALG9 HP_CHOROID_PLEXUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROID_PLEXUS_CYST ZSWIM6 NPHP3 FH PHGDH SETBP1 HP_PROGRESSIVE_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTICITY DEGS1 DARS2 OPA1 GLRX5 GM2A ARG1 RPS6KA3 NADK2 ARSA NKX6-2 GALC ACP5 PSAP TBCD MECP2 SELENOI FA2H HSPD1 GJC2 PLP1 ATP13A2 PLAA POLG HP_PSEUDOBULBAR_BEHAVIORAL_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_BEHAVIORAL_SYMPTOMS ALS2 SPG11 PUS3 SIGMAR1 FUS ERLIN2 HP_DELAYED_GROSS_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT SNX14 CSNK2B KMT2E CFL2 TRMT1 SUCLA2 ATP6V1A STAG2 NGLY1 MAPK8IP3 MT-TE DNM2 COL1A2 CPLX1 MRPS14 CHRNB1 TUBB3 SYNE1 PUS7 NEUROD2 FTSJ1 WASF1 MYF6 DHPS PIGC NCAPG2 ZNF148 AK9 TNNT1 WDR26 TTN EP300 TNPO3 P4HTM DYNC1I2 KMT2A TRIM2 TMTC3 SCN4A RAPSN CHST14 WDR4 YY1 COG1 NFASC TAF1 NDUFA12 MUSK RUSC2 CHRNE TIMM50 FGF3 COL12A1 SMPD1 TRMU MYH7 UGDH LARS1 PAK1 MBOAT7 CAMK2A BIN1 PRMT7 DSE UBE2A MTPAP DYNC1H1 RYR1 FBXO11 RAI1 ASXL3 NAA10 DOK7 DOCK3 HUWE1 TBR1 MED13 COL13A1 CHD3 KY FBXL3 HS6ST2 MYO9A DHX30 SLC18A2 PLEC REPS1 LRP5 ZSWIM6 PCYT2 BMP1 COL1A1 CHRNA1 NONO CLPB FKRP TANGO2 SMARCD1 TET3 TRIO SELENOI TK2 ATG5 SYT1 PPP2R5D CLCN7 DPF2 PTEN FRMPD4 KIF14 EXTL3 PIEZO2 AMPD2 CHST3 NDUFA1 FOXP1 KLC2 FBLN1 CDK13 TCF20 SLC9A7 GJC2 AHI1 SMC1A ERLIN2 CDKL5 PACS2 NPHP1 HARS1 HERC2 GRIA4 MFN2 CLP1 OTUD6B TMEM94 TRRAP BRPF1 KDM1A RAB11B TRAPPC9 RUBCN LRP4 EBF3 CNTNAP2 CHRND SET ABCA2 PHKG2 MTMR14 PPP2CA DNAJC19 PAK3 FLRT1 HOXA1 SLC25A1 SELENON SLC5A7 SETD5 HECW2 KIDINS220 PPP2R1A BRAT1 RNU12 PHKA2 AHDC1 ADCY5 CWC27 POMT2 GLS MAGEL2 MPZ FLVCR1 BCL11B KDM5B SLC25A42 KPTN GALE SLC6A3 PNPLA2 DLAT PIGG AGRN ITPR1 HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS CSPP1 RAC1 KIAA0586 TMEM216 INPP5E HP_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPATHY EXT2 EXT1 GALNS GNPTAB COL2A1 GLB1 ARSB DKK1 NAXE HP_GENERALIZED_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_SEIZURE SMS EFHC1 HACE1 GLB1 CHD2 MPLKIP CLCN4 ADRA2B PDX1 ALDH7A1 LMAN2L ABCC8 STXBP1 CRADD SAMD12 NGLY1 SCN8A PRICKLE1 PIGM FTSJ1 NUS1 NUBPL OSTM1 ASPA RORB GABRG2 KCNJ11 MT-TP UPF3B LINS1 SCN1A DPM2 MT-TQ CPLX1 SLC2A1 ADGRV1 GTF2H5 STAT3 RAB39B HCFC1 PRRT2 ARHGEF6 STX1B EPM2A JRK CDKL5 MT-TK CACNA1H CLCN2 SCN9A DHDDS SLC9A6 CXorf56 SMARCA2 CILK1 PSAP GABRD SLC45A1 MT-ND1 PHGDH SIK1 SLC6A1 ATP1A1 WDR26 ARX SCN2A SDHB MT-TL1 IL1RAPL1 GTF2E2 GBA MT-TI SLC25A22 RNF113A ZC3H14 CLIP1 GABRA1 CASK MTOR PIGQ CSTB GATAD2B MARCHF6 DCPS CAMK2A FTL DHFR CUX2 AFG3L2 ALDH5A1 MT-ATP6 PLAGL1 GRIN2A KCNMA1 SMPD1 INS PIGC AP3D1 CNKSR2 AP2M1 FBXO31 PIGA RPS6KA3 MBOAT7 MED25 MID2 SCARB2 NFKB2 SARS1 LAMA2 GLUD1 TRAPPC9 SZT2 CC2D1A COG2 FGFR3 ANO10 MED13 GALC KCTD7 TBC1D24 MED23 TSPAN7 MFSD8 HYMAI TRIM8 MECP2 GOSR2 PCYT2 C12orf4 NEXMIF SCN1B IER3IP1 NHLRC1 CTNND2 EZR MT-ND5 SDHD ACSF3 SLC12A5 PTCHD1 ACSL4 GAMT TANGO2 NSUN2 MT-RNR1 TNIK DMXL2 SDHAF1 KCNQ2 DNM1 SDHA GRIK2 USP27X PRDM8 PIGT FMN2 ARHGEF9 EXTL3 SRPX2 TK2 BRAT1 CACNB4 GCK RNU4ATAC LNPK HCN1 NDUFA1 XK PIGP SLC25A15 GDI1 ZFP57 PCDH12 GABRB3 ERCC3 KCNQ3 PLAA FRRS1L PRSS12 ALG13 ASAH1 ATAD3A KDM5B AGTR2 BTD GNAO1 SLC35A3 IQSEC2 CARS2 PAK3 PGAP1 ATXN10 MAN1B1 ERCC2 MT-TF MT-TH RSRC1 ZNF41 PLCB1 ST3GAL3 IQSEC1 CNTNAP2 EHMT1 FRMPD4 PCDH19 PNKP TARS1 ZNF711 B3GALNT2 NDST1 DOCK7 MT-TS2 DLG3 MT-ND4 KCNT2 HNMT SYP METTL23 WASHC4 YEATS2 KCNA1 GRN MT-ND3 DMD RELN SLC9A7 ELOVL4 MT-TW TUSC3 TBCD MT-ND6 MT-ND2 AIMP1 RPL10 GPHN EDC3 MT-TV CRBN NEUROD2 CNTN2 TMX2 TECR MAPK10 USP9X BUB1B NDE1 SON SPATA5 MED12 ZNF81 TRIT1 HP_HYPOCALCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIC_SEIZURES GNAS TBCE FAM111A VDR TNFRSF11A GCM2 STX16 CYP27B1 CYP2R1 GATA3 HP_PSEUDOBULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_SIGNS ALS2 FBLN1 DNMT1 RARS1 SPG11 NEFH LMNB1 ALDH18A1 ASPA B4GALNT1 ERLIN2 PUS3 HTRA1 SOD1 CYP27A1 TGM6 ADSS1 GM2A FUS SPG7 NONO AP4M1 SIGMAR1 ZFYVE26 PRPH NOTCH3 DCTN1 HP_PLEURAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURAL_EFFUSION BCL6 IL12A HLA-B PRSS1 MYD88 BMP2 BCL2 RIT1 KIF11 PLVAP FSHR TSC1 SPINK1 HLA-DRB1 MEFV SOX18 C4A IL12A-AS1 HELLPAR DNASE1L3 UBAC2 PIEZO1 IL10 CCBE1 STAT4 GPR35 MST1 PRSS2 MIF CBL INHBA IL23R ERAP1 HFE CALCRL CCR1 CFH CD46 ADAMTS3 IL6 SPP1 KLRC4 BTNL2 TAPT1 LACC1 CCND1 TSC2 CFTR TLR4 TCF4 FAT4 IRAK1 FAS CTRC CFI LBR HP_RESPIRATORY_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_PARALYSIS SCN4A CPOX KCNE3 KCNJ18 ALAD CACNA1S GABRA3 HMBS HP_PULMONARY_EMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EMBOLISM HABP2 IL23R IL12A SERPINC1 HLA-B CBS ERAP1 KCNJ5 PROS1 SMAD4 GNAQ CCR1 PROC ACVRL1 F2 PTEN MTHFR KLRC4 ENG CD55 GDF2 AKT1 TET2 PLP1 MEFV C4A IL12A-AS1 MPL AGGF1 UBAC2 TLR4 IL10 F13A1 PIGA FAS JAK2 STAT4 HP_PULMONARY_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_FIBROSIS SFTPA2 NKX2-1 BMP15 TERT HPS4 IRF5 ALMS1 TINF2 PARN FSHR CAV1 CCN2 FASLG SP110 SFTPC ABCA3 KIAA0319L CASP10 CTLA4 FAS THOC2 BNC1 TERC RASGRP1 SFTPA1 NOP10 RNF168 HLA-DRB1 SPIDR CLCA4 POLR3H FAM13A STN1 PSMC3IP DSP RTEL1 NHP2 MUC5B NR5A1 CCR6 DKC1 DCTN4 PLEC BTNL2 HLA-DPB1 MRPS22 HLA-DPA1 PTPN22 RCBTB1 CFTR PRKCD ATP11A TGFB1 DPP9 NUP107 FAM111B PRTN3 AP3B1 HPS1 STX1A HP_COARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_HAIR NOTCH2 CERT1 TP63 LZTR1 SMARCAL1 TMCO1 CCDC47 PTPN11 VPS33A ATP6V1A MRAS NAGLU SGSH ATP6V0A2 SLC25A24 IKBKG A2ML1 RRAS2 RAF1 SUMF1 HGSNAT PADI3 RASA2 LPAR6 NRAS SEC23A ERCC3 ATP6V1E1 RIT1 GNS NOTCH3 CBL OFD1 RRAS KRAS ATP7A FLNA TGM3 BCS1L KRT74 PLOD3 HR EPS8L3 SOS2 SOS1 RPS6KA3 NECTIN4 HP_SPARSE_SCALP_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_SCALP_HAIR APCDD1 PPP1CB MPLKIP ARID1A B4GALT7 KRT17 PCNT CEP152 LIG4 ARID1B LSS CDH3 TP63 LIPH DPF2 RTEL1 LMNA KRT74 ATRIP LPAR6 ZBTB20 RNU4ATAC B3GALT6 MED25 GTF2H5 ERCC3 KIFBP CBS SHOC2 TERT ITGA3 DKC1 NHP2 PCGF2 KAT6B RIN2 WNT10A CENPJ KANK2 SNRPE GJB6 PRKD1 ADNP NSUN2 JUP KDM1A ERCC2 EPS8L3 ACD FIG4 GTF2E2 RNF113A NECTIN4 DPH1 SMARCA2 RPL21 EDARADD TARS1 AXIN2 SLC25A24 PLK4 SMARCE1 WRN CLDN1 DSG4 AHSG SMARCB1 RBBP8 SOX18 NTRK1 POLR3A VAC14 KRT25 SPINK5 EXT1 NOP10 TRPS1 SMARCA4 ATR TRAIP HDAC4 UBR1 HLA-DRA PARN PTPN22 IGF1R DSC3 FAS OCRL CDSN MAF ITGB6 HR TINF2 SMARCC2 CENPE HP_WHITE_FORELOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_FORELOCK TFAP2A PAX3 SNAI2 EDNRB SOX10 KIT EDN3 MITF KITLG WRN PEPD LMNA HP_CURLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_HAIR MTOR CERT1 BRAF CDK13 CCDC47 TTC37 RIPK4 NRAS USP9X RIT1 SOS2 AFF4 RAF1 LZTR1 JUP SOS1 MAP2K1 GJA1 SON KRAS GAN ST14 KRT25 TCHH HRAS HP_FINE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINE_HAIR TRMT10A LIPH SMARCAL1 TTC37 GATAD2B RMRP EDARADD IFT43 CSTB PCNT GJB2 TINF2 GJA1 TRPS1 NBAS MSX1 IKBKG LIG4 ALX4 KRAS TP63 CDKL5 TWIST2 KRT74 SUOX WNT10A BRAF MECP2 PPP1R15B SUZ12 WDR35 MAP2K2 STXBP1 GABBR2 SIN3A GNPTAB KRT83 PIGL NAA10 PYCR1 MED12 KRT25 KRT86 CBL SATB2 KCTD1 BRF1 MAP2K1 EZH2 LPAR6 DSG4 GJB6 ITGA3 KRT71 KRT81 EDAR NTNG1 RLIM SPINK5 SMAD4 COL3A1 DCAF17 OCRL CDH3 ERCC2 NSUN2 HPD IFT122 EED SLC7A7 KAT6B NSD1 HP_PREMATURE_GRAYING_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_GRAYING_OF_HAIR TFAP2A PAX3 SNAI2 TERT SOX10 MTAP ELN KITLG TINF2 INSR NOP10 MLXIPL MITF WRN PARN EDN3 EDNRB MYO5A STN1 RTEL1 LMNA TERC NPM1 ATM WRAP53 RAB27A NHP2 DKC1 PTPN22 FAS USB1 ZMPSTE24 CTC1 RECQL4 ACD DSTYK HP_FACIAL_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPERTRICHOSIS SNX14 SMS NOTCH2 CERT1 CCDC47 MBD5 TRMT1 SOX10 PSMD12 INSR CDH11 ABCA5 ADAT3 SGSH SLC1A4 KIFBP AFF4 ARID1B ZIC2 ZNF711 RAB3GAP1 ZBTB20 SNAI2 PAX3 SMC3 HFE PPP1R15B KCNN3 DEAF1 SETBP1 NIPBL KCNMA1 ATP6V1B2 GNE B3GLCT RAI1 SMC1A KCNH1 KMT2A EHMT1 CDC42 TBCK TAF6 GNS KLF13 TTI2 NANS CDKL5 BPTF PACS2 SETD5 NECTIN1 UBE2A HMGA2 BMP2 KCNK4 ANKRD11 TMEM94 KDM1A GPR101 TRAPPC9 UGP2 TMCO1 PHF8 CHSY1 EBF3 ALG9 FLII TRMT10A PACS1 VPS33A HSPA9 FGFR1 HDAC8 TRIO KIT FREM1 CHRNA7 DOCK7 HNRNPU TAF1 NAGLU SLC25A24 MITF AIP EDN3 EDNRB RUSC2 CTCF CSNK2A1 TALDO1 RAD21 HGSNAT NFIX POLR3A UGDH PHIP TUBGCP2 UQCC2 FHL1 FGF3 KLHL7 CDK10 SMCHD1 PIGN KNL1 IQSEC2 UROD MED13 WAC XYLT1 NSUN2 IGF1R DHX30 CDON ASXL1 IL1RAPL1 LEMD3 ARX CUL4B ASXL3 MAB21L1 WNT4 CWF19L1 ABCC9 ERLIN2 STAG1 HP_ABSENT_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_AXILLARY_HAIR EPS8L3 PPP2R3C ZBTB20 TBX3 AR GJB6 SNRPE APOE HP_ABSENT_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EYEBROW ALX1 MAP2K2 FRAS1 SOX18 EDA MBTPS2 HR UBE3B LMNA KRAS BRAF RECQL4 UROS TTC7A CDH3 TWIST2 KRT85 ANAPC1 RIPK4 SMARCA2 HP_WOOLLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WOOLLY_HAIR TTC37 LIPH SKIV2L CCDC47 LPAR6 MPLKIP KRT71 KANK2 JUP ATP7A KRT74 HRAS TGM3 DSP PADI3 DSC2 EFNB1 GAN PKP1 KRT25 HP_WHITE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_EYEBROW SNAI2 PAX3 SOX10 EDNRB KIT MITF EDN3 HP_GENERALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HIRSUTISM MC1R NOTCH2 RAB3GAP1 MBD5 ELMO2 BSCL2 SMARCC2 KCNAB2 ABCA5 IDUA GNAS SMO PTEN IFT27 TWIST1 BBS10 SDCCAG8 MAPRE2 ARX SMARCD1 BBS9 TWIST2 RAB3GAP2 BBS2 NIPBL GNE PRDM16 IRF6 BBS7 BBS5 HSPG2 LZTFL1 SMC1A NFIX SOX11 ABCC9 AKT1 CDH23 SLC25A24 TRIM32 LMNA GJB4 KCNJ8 GJB3 GPR101 BBS1 SMC3 KMT2A GJA1 SETD5 CYP19A1 SRCAP SUCLA2 SOX4 MKS1 ALMS1 RERE CTSC MKKS AIP SMARCB1 LMNB2 ARID1A BBS4 C8orf37 NPHP1 KDSR PEPD RAD21 CAV1 SMARCE1 GABRD ARL6 UBE2A INSR SKI RAB18 BBIP1 ARID2 TUBB TBC1D20 FOS SMARCA4 ARMC5 WDPCP IFT172 NRAS PPARG AGPAT2 HDAC8 BBS12 CAVIN1 CEP290 USP8 DPF2 ARID1B TTC8 HP_SPARSE_BODY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BODY_HAIR RPL21 LIPH APCDD1 EDARADD KDF1 KLHL24 FMR1 CHD7 EDAR FGFR1 CST6 CTSC CLDN1 LSS GNRHR KRT74 DSG4 LAMA3 WDR11 AHSG EDA2R KISS1 TAC3 SOX18 LAMC2 PROKR2 ANOS1 HR CDH3 SPRY4 CYP17A1 TACR3 COL17A1 FGF17 LPAR6 GNRH1 KRT71 WNT10A DSC3 CYB5A KANK2 JUP PROK2 SNRPE FGF8 NSMF EDA LAMB3 TRAF6 TP63 ITGB6 LMNA HS6ST1 KISS1R DUSP6 KRT85 ITGB4 KRT25 HP_PATCHY_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_ALOPECIA KDM5C HR TGM3 ITGB4 ECM1 PADI3 DSG4 TP63 KRT83 KRT81 IKBKG PORCN COL17A1 KRT86 NECTIN4 HP_PILI_CANALICULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_CANALICULI PADI3 GAN TP63 TCHH SKIV2L TGM3 HP_FRONTAL_UPSWEEP_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_UPSWEEP_OF_HAIR FOXP1 EP300 HERC2 CREBBP NPAP1 SNORD116-1 MKRN3 YY1 MAGEL2 SNRPN UBR1 PWAR1 MED12 PWRN1 MED13L SNORD115-1 NDN FLNA HP_GASTROINTESTINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_HEMORRHAGE IL12A SDHB KIT FGA F7 ENG FAH WIPF1 ARHGAP31 BMPR1A TSC1 SEC63 STK11 PDGFRA PMS2 MVK GDF2 TET2 EPCAM KIF23 ABCC6 WAS STN1 MEFV IL12A-AS1 CTLA4 ATRX APC SLCO2A1 IL10 COMT TTC7A XYLT1 PTEN FGG STAT4 GP1BA GFI1B CTNNB1 JMJD1C ADAM17 IL23R PLOD1 LBR CBS ERAP1 ENPP1 ITGB3 SMAD4 FGB CCR1 SDHC ACVRL1 MLH3 NOTCH1 MSH2 HIRA PRKCSH PUF60 RREB1 KLRC4 ATP7A PTPN22 MSH6 WFS1 PMS1 VWF HLA-B GP9 XYLT2 TBX1 ITGA2B F5 TEK PRTN3 HPS1 MLH1 ITGA2 RHBDF2 KRAS MYD88 LMAN1 B2M DOCK6 IL10RA PLVAP GREM1 F10 F9 F2 FCGR2C EOGT TGFBR2 ALDOB SDHD GP1BB F8 DAXX C4A AGGF1 IKZF1 UBAC2 ARVCF DLL4 RPS20 JAK2 LYST SEMA4A MYC SDHA RBPJ F11 SEC24C CISD2 TNXB CD109 HPGD LRP5 HLA-DPB1 HLA-DPA1 MPL TSC2 TLR4 HSD3B7 SLC25A13 CYP7B1 PIK3CA UFD1 MCFD2 FAN1 FAS CTC1 HP_HEPATOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOMEGALY CCDC47 TCIRG1 LBR RAG1 INSR CPT2 C15orf41 CPOX PHKA2 SGSH EPB42 SLC22A5 TSFM LYZ MT-ND2 KCNN4 COG7 GPC3 LIG4 RRAS2 OSTM1 APOA1 CTSK CASP10 CC2D2A PDGFRA DPM2 ERBB3 PCCB MOGS ASAH1 NDUFAF1 BOLA3 GPR35 ATP6V1B2 ZAP70 RAG2 WRAP53 ADA2 TTC37 KCNH1 KLF1 LTBP3 PHKB CLCA4 SAA1 RNASEH2A PEX1 ALG2 PIEZO1 FAH NDUFS3 AUH IL6 NDUFV2 TNNT2 PRKCSH HBG2 ERCC8 ALDH7A1 PHKG2 PEX6 ATP8B1 LIPE TCF4 RUNX1 MPV17 CTLA4 NLRP3 SLC7A7 GBA NDUFB11 ICOS MYBPC3 SLC37A4 CYBC1 VPS33A DLD BSCL2 HSD3B7 MYD88 MT-TW MRAS CIDEC PCCA PEX10 AGL DHFR GPC4 TIMMDC1 OCLN NDUFAF8 NDUFB10 CLDN1 GLB1 TMEM70 FASLG ASL ACADVL COX8A PLAGL1 STX11 AGA LMNA DAXX HGSNAT AP3D1 AGGF1 LIPA RPGRIP1L LARS1 MARS1 SLC25A20 PSMB8 CLCN7 MST1 PEX12 TRAPPC11 NCF4 NDUFS6 ARSB LYST FOXRED1 INPPL1 TNFSF11 XIAP XPR1 HBG1 F5 ABHD5 ITCH NDUFAF4 FOS IL2RG HFE B2M PDGFRB HYMAI FAS GNPTAB IGF2 PPARG DHDDS MET AGPAT2 GLRX5 TNNI3 TINF2 RHAG HSD17B4 DCLRE1C VPS45 APOE ANK1 ACAT1 PMM2 MT-ND5 PEX16 SOS2 HADHA NDUFS8 NAGS NDUFAF3 PEX11B TMEM126B NPC1 GPIHBP1 PEX14 PEX5 CAV1 PRF1 LPIN2 GPC1 SNX10 ERCC6 COX6B1 MMAA CPT1A KRT16 HNF1A HBB NCF2 XRCC4 SRP54 TET2 COX14 IDUA ATP7B SUMF1 DGUOK ALG13 ACOX1 EXTL3 NCF1 NLRP1 COG6 DCDC2 HLA-DRB1 CASR SLC25A15 RMRP FUCA1 SKIV2L GLIS3 PEX26 COA3 G6PC FERMT3 RAB27A NDUFS2 CALR NDUFV1 TNFRSF13C NEU1 SCYL1 UCP2 STEAP3 PCK1 PEX19 DOLK MRPL3 MYPN IDS SBDS ACADM SOS1 LCAT STX1A WDR35 CCDC115 DPM1 CYBB HMGCS2 TERT CR2 GAA MT-CYB FBP1 ALMS1 IL2RB ETFDH JAK2 BMP2 PEX2 GNMT HJV HMGCL SMPD1 NDUFAF2 PLEKHM1 KCNQ1OT1 MT-TL1 RNU4ATAC PRKCD SLC4A1 TALDO1 RAF1 DDRGK1 MT-ND3 PIK3C2A PEX13 SF3B1 NDUFB3 MT-ND6 PSMB4 CDKN1C PIGS COX20 FGA RIT1 PYGL IL2RA TMEM67 CAVIN1 NGLY1 MFN2 KCNQ1 TRMU CTNS PEPD SLC2A1 HAMP MMUT ALG8 CTC1 IFT122 KRT6A XYLT1 FLNC TNFRSF1B NDUFS7 HBA2 CYBA CBL SCO1 NDUFAF5 SPTB G6PC3 AMACR PSAP SC5D IFT172 SLC25A13 NOP10 MPI EIF2AK3 SEC63 PIGM A2ML1 TACO1 MT-TE CD19 TREX1 ATRX SLC39A4 SLCO2A1 PET100 ABCA1 GCDH GNE RFT1 SCARB2 HYOU1 GNS TNFRSF11A ATPAF2 TUFM DCTN4 COG4 ALDOB CD40LG IFT140 ABCB11 MT-ND1 AKR1D1 NPHP3 COX10 C1QBP CFTR PEX3 PC NAGA BTNL2 TRIM37 SLC25A1 USP18 NRAS FBN1 NDUFS1 PDGFB ALG9 MYORG RHBDF2 HBA1 CD28 MCM4 GALNS NPC2 IL7R PTRH2 NAGLU COA8 MAN2B1 KCNJ11 SLC30A10 SP110 MT-ATP6 GPD1 ACADL SLC13A5 NHLRC2 ABCC8 HNF4A TMEM165 PIGA PTPRC ABCC2 PNPLA2 APOC2 ADA ABCB4 RTEL1 CYP7B1 ABCD3 EWSR1 ATP6AP1 UQCRB NDUFS4 ASXL1 ETFA LRP5 SLC29A3 DYNC2LI1 EARS2 ASS1 MT-TN NEK8 MPL ADAMTSL2 MRPS7 CTNNB1 TGFB1 EFL1 RMND1 MVK FAM111B GALT NOTCH2 PKHD1 ETFB PSMB9 SLC17A5 INPP5E YARS2 RBCK1 MMAB KCNN3 RASA2 CA2 DNASE1L3 POLG RASGRP1 ANTXR1 COG5 NPM1 NDUFA6 MIF SLC25A19 POLG2 MEFV CBS DNAJC21 COX4I2 SOX10 AKT2 VPS13A HMOX1 WT1 TKFC DIS3L2 KRAS SH2D1A ALG1 NDUFA1 CHD7 GATA2 NDUFA11 CD96 TERC TNFRSF13B MPC1 SERPINA1 JAM3 LZTR1 KRT17 SRSF2 PTPN11 MT-ND4 GFM1 PARN GUCY2D POLD1 SPTA1 MT-TK CD70 SLC20A2 IL1RN NDUFB9 ITK KIF20A NHP2 MT-TV CD27 RRAS HPGD PLPBP CD55 TKT USB1 LACC1 KRT6B PTEN BTD IFIH1 GALE DKC1 JAM2 GUSB AP3B1 NUBPL FDX2 HP_ABNORMAL_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTESTINE_MORPHOLOGY EPCAM KMT2D CTBP1 SLC6A8 PRSS1 EDN3 CLCN4 INSR KRAS BLNK KCNAB2 BACH2 ARID1B STK11 STAT3 SPINK1 TCF4 ABCB1 POLG MEFV CASP10 CTLA4 BRIP1 ATRX GPR35 MYLK TMEM138 TYMP TTC37 SALL4 SMO CHD7 ARHGEF6 HCCS PEX1 GLA CCR1 MT-ND4 CCR6 TTC7A MLH3 PTCH1 PTF1A MSH2 MSH3 ATP7A STX3 B9D1 PIK3CA ARX AP1B1 RUNX1 MT-TK SETBP1 TFAP2A CEP57 SEMA3E CHST14 INPP5E MUTYH BCOR KIT TCTN2 SLX4 PALB2 PEX10 MITF CD3G IL10RB RAD21 F12 C4A BUB3 DHODH MNX1 LIPA GREB1L RPS6KA3 ARL3 CTNNB1 FCGR2A FANCA KLHL7 MST1 PEX12 DSE NCF4 SLC2A2 TCTN1 FOXF1 EDNRB F5 TEK AP1S1 SI XRCC2 ASCL1 DICER1 MDM2 FGF8 MTTP OCRL ARL13B ERCC2 SRP54 TINF2 HSD3B7 LTBP4 ACTA2 CEP104 GTF2IRD1 UFD1 LETM1 FANCB TDGF1 FAS KIAA0586 CTC1 GPIHBP1 RFXANK LPIN2 FANCM IRF5 PTPRJ GPC1 KITLG WIPF1 GPC4 XRCC4 EP300 DIS3L2 TGFB1 VANGL1 ARMC9 NCF1 CLIP2 COG6 COMT INAVA HLA-DRB1 ACTG2 WAS DOK7 ZFP57 IL23R LBR ERAP1 TRMT5 SMAD4 APC DNMT3B ENPP1 DMPK HIRA BRCA1 CEP41 IQSEC2 MSH6 CPLX1 WFS1 PMS1 CREBBP PLG SEC23B TJP2 HBB ZNF41 IGLL1 CHRM3 PCSK1 STX1A MT-ND6 AKT1 PLA2G2A RNF43 TERT HLA-B RMRP MKS1 BRCA2 IL2RB MT-TL1 BMPR1A MAD2L2 ZMPSTE24 GREM1 MED12 ACOX2 SYP FOXP3 RTEL1 IL12RB1 SDHB PACS1 PLAGL1 NODAL SEMA3C PEX13 SLC9A7 NEK1 SOX10 RPS20 FGFR2 KMT2A AGA PTEN RFWD3 PIGN PIBF1 ABL1 IL2RA MYC SLC7A7 CAVIN1 CDC45 DLL1 ALG8 SRC RET HDAC8 FGFR1 SDHC SDHD CHEK2 DHCR7 RTTN AMACR KEAP1 RECQL4 PEX16 PMS2 SNAI2 MT-TF EPHX1 CCDC28B SLCO2A1 PHOX2B PDGFRA AURKA AMER1 SALL1 HCFC1 PRDM16 AXIN2 ADAMTS3 TP53 NEUROG3 HYOU1 ITGB4 CBLIF MT-ND1 MBTPS2 RREB1 PLA2G4A MT-TE UBE3B NPHP3 CFTR SLC5A1 AKR1D1 MKKS FAT4 IL21 PEX19 FOXE1 BDNF LMOD1 TBCE FBLN5 GJB2 ANTXR2 HELLS TGFBR2 KCNJ11 GDNF DGAT1 PKD1 FANCD2 CNKSR2 MMP21 DISP1 PDGFRL LRP2 SLC39A4 ABCB4 PLCG2 SEMA4A TWNK NRAS BAZ1B CYP7B1 MT-TS2 POLE TLR2 CENPF CCBE1 SIN3A ASXL1 FREM1 PIGO UBR1 GP1BB CFC1 EFL1 SBDS RAD51 PTCHD1 ACSL4 PEX11B FAH LIG4 CDK8 SAR1B STAT1 ALG3 TET2 PAX3 FGFR3 SLC10A2 XIAP RAC2 ERGIC1 NTHL1 RELA AIRE STAT4 SF3B4 CDCA7 L1CAM PIGV TCOF1 ALG13 RFX5 PIGL RAD51C PAK3 CDKN2A ENG GUCY2C PGM3 TMEM67 TBX1 IL12A CTRC MLH1 PTPN12 SETD5 FRMPD4 MAP3K7 CCDC22 COL14A1 MYOD1 IL10RA BBS1 ECE1 PARN HMBS PRKAR1A PIGW DMD CXCR4 MASP2 IRGM GATA6 GABRD NRTN ITGA8 MUSK MPI AHI1 C12orf65 KIF7 SPINK5 IL6 NDUFB11 TNFSF15 HYLS1 PRKCD FLNA RPS19 CCN2 KDM6A SUFU ZNF81 DOCK8 PIGY CCDC47 TMEM231 LIMK1 MINPP1 FANCL FGF20 KIFBP CD79A DDX59 ARL6 ELN IL12A-AS1 SLC6A19 FOXH1 LCT PORCN PRSS2 WRAP53 RAB39B MYRF DLC1 FGFRL1 WNT2B CLCA4 HABP2 SAA1 SERPING1 ITGA6 LRBA BAAT KLRC4 PEX6 HMGA2 PALLD MT-TQ POLR1D IL1RAPL1 B3GALT6 CYBC1 MTOR SRCAP MYD88 B2M FLI1 SIX3 GAS1 FASLG MT-CO3 ARVCF MID2 C1R RERE OPLAH TGIF1 SKI SLC9A3 SLC18A3 CISD2 B3GLCT TSPAN7 TNFAIP3 SEMA3D LEMD3 HLA-DPB1 ZAP70 RFXAP UBE2T TMEM216 F13A1 ATP8B1 COMP SMC1A LMNA MT-TH TMEM237 EFEMP2 PEX14 FLCN RBM10 SPIB RFC2 ERCC4 NLRC4 POLD1 DCC CAV1 CCNQ NCF2 CC2D2A DHCR24 ABCC8 SPINT2 NSD2 PMPCA MYCN SKIV2L JMJD1C ARPC1B PDGFRB CEP120 SIX1 ZBTB24 MT-CO1 NSUN2 JAK3 NAA10 IDS POLR1C ZFPM2 RPGRIP1L MT-ND5 ITCH MYO5B BUB1B PRTN3 ZEB2 CYBB ZNF711 PLVAP COL5A1 GDI1 TCTN3 PIK3C2A STRA6 PIEZO1 PTCH2 MMEL1 BUB1 JAK2 MT-CO2 WNT4 GNAS SEC24C DYNC2H1 CCND1 CPLANE1 ODC1 PEX2 ISL1 GPC3 PGAP2 NUP88 FANCE CYBA CBL SLC46A1 NOP10 FTSJ1 UPF3B RIPK1 COX7B IGHM CLMP MYH11 CDON NIPBL SLC29A3 COG8 ADAM17 PNLIP NPHP1 CSPP1 PEX5 ACVRL1 CXorf56 RRM2B DCTN4 ABCB11 FRAS1 FANCF EXOC6B LONP1 MYO1H PEX26 TRIP13 SMC3 ZIC2 SH3KBP1 KAT6A RHBDF2 FARSB FANCG KIAA0556 PTRH2 MLXIPL ALDH18A1 FANCI TNFRSF1A UBAC2 EYA1 TP63 CARMIL2 EWSR1 GJB6 AK2 TNPO3 MECP2 HLA-DPA1 LRRC8A SHPK BAX TLR4 DMP1 FAN1 ZNF423 RAPSN NOTCH2 DACT1 KLLN GATA1 GTF2I MVK GDF2 MCC USP27X FBN2 IL10 RASGRP1 SHH CIITA NPM1 SH2B1 INHBA POU2AF1 DNAJC21 COX4I2 VPS13A NOTCH3 AGTR2 WT1 PTPN22 RARB CEP290 MT-TW GLI2 CD79B TERC HPS1 WASHC5 AAGAB SRSF2 CYP27A1 HNRNPU DLG3 FANCC RAD54B TBL2 NOD2 TMPRSS6 RBM8A RFX6 FERMT1 ITGB2 TCF3 MCM6 PIK3R1 USF3 SDHA NHP2 PEX3 HPGD EIF2AK3 BTK CD55 HYMAI USB1 USP9X FLNB PGAP3 SMAD7 DKC1 POLA1 F13B SLC30A2 COL3A1 HP_PROTEIN_LOSING_ENTEROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_LOSING_ENTEROPATHY CCBE1 COG8 ADAMTS3 BMPR1A PIK3C2A MPI ALG8 PTEN DGAT1 PLVAP HP_ABNORMALITY_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SMALL_INTESTINE FANCE CCDC47 CTBP1 PRSS1 CLCN4 RTTN AMACR FANCL CHST14 ARID1B MPI RFWD3 STAT3 SPINK1 FTSJ1 POLG EPHX1 UPF3B FOXH1 SRCAP BRIP1 LCT CLMP CDON GPR35 PTEN PRSS2 SALL1 RAB39B HCFC1 TYMP TTC37 FGFRL1 COG8 ADAM17 ADAMTS3 WNT2B CHD7 ARHGEF6 PNLIP BAAT TTC7A CXorf56 RRM2B PTF1A PLG STX3 ABCB11 FRAS1 PLA2G4A FANCF AKR1D1 TRIP13 TCF4 ARX IL1RAPL1 ZIC2 MYO5B CEP57 PTCH1 SEMA3E FANCG HSD3B7 SLX4 FLI1 ANTXR2 PTRH2 MLXIPL SIX3 RAD21 GAS1 KCNJ11 PEX12 FANCI BUB3 PIGN LIPA DGAT1 FANCD2 CNKSR2 RPS6KA3 MID2 FANCA DISP1 RERE TGIF1 MST1 SPINK5 DSE FOXF1 CYP7B1 XRCC2 CENPF CCBE1 TSPAN7 TNPO3 FGF8 MECP2 MTTP RFXAP UBE2T SRP54 SHPK CFTR ATP8B1 EFL1 LETM1 SBDS FANCB TDGF1 RAD51 PTCHD1 ACSL4 RFXANK PORCN FOXP3 RBM10 SPIB FANCM ERCC4 GPC1 GATA1 GPC4 SAR1B STAT1 ALG3 ABCC8 FLNA DIS3L2 USP27X SLC10A2 NSD2 EPCAM FBN2 SHH CIITA RELA ZFP57 MYCN SKIV2L BMPR1A POU2AF1 LBR COX4I2 ALG13 RFX5 AGTR2 RAD51C BRCA2 IQSEC2 PAK3 CPLX1 RARB GLI2 TJP2 ZNF41 BRCA1 BUB1B PCSK1 IL12A CTRC FRMPD4 ZNF711 ELN PLVAP MAD2L2 DLG3 FANCC ACOX2 SYP IL12RB1 PLAGL1 NODAL GDI1 RBM8A PIK3C2A DMD STRA6 CXCR4 SLC9A7 RFX6 MMEL1 BUB1 MCM6 DNAJC21 WNT4 IRF5 IL2RA SLC7A7 CDC45 SUFU EIF2AK3 HYMAI USP9X DLL1 ALG8 TNFSF15 MED12 PALB2 GPC3 FGFR1 ZNF81 HP_ABNORMALITY_OF_THE_DUODENUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DUODENUM CEP57 FANCE PORCN PTCH1 SEMA3E RBM10 FANCG FANCM ERCC4 RTTN MAD2L2 SLX4 GATA1 FLI1 FANCC FANCL CHST14 ARID1B SIX3 RAD21 RFWD3 GAS1 NODAL FOXF1 FANCI BUB3 STRA6 FOXH1 PIGN FANCD2 BRIP1 FBN2 RFX6 FANCA DISP1 RERE CDON SHH BUB1 TGIF1 SALL1 MYCN CHD7 XRCC2 CDC45 TTC7A CENPF SUFU RAD51C BRCA2 PLG FGF8 PLA2G4A UBE2T FANCF DLL1 RARB TRIP13 GLI2 PALB2 BRCA1 FANCB TDGF1 BUB1B FGFR1 ZIC2 RAD51 HP_DUODENAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ATRESIA CEP57 MYCN PORCN PTCH1 SEMA3E CHD7 RTTN CENPF FLI1 SUFU SIX3 GAS1 FGF8 NODAL FOXF1 DLL1 BUB3 FOXH1 PIGN TRIP13 GLI2 FBN2 RFX6 DISP1 RERE CDON SHH BUB1 TDGF1 BUB1B TGIF1 FGFR1 RFWD3 SALL1 ZIC2 HP_HEMATEMESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATEMESIS ENG WAS WIPF1 GP1BB GP9 ACVRL1 DAXX ATRX GP1BA HP_MELENA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELENA KIF23 GP1BA WAS ACVRL1 BMPR1A GP1BB DAXX ATRX ENG ITGA2B ITGB3 CD109 APC PTEN ITGA2 HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY CHEK2 EPCAM DOCK8 PIK3CA SDHB KIT LIMK1 MINPP1 INSR KEAP1 APC BACH2 RECQL4 STK11 PDGFRA PMS2 ABCB1 SALL4 ELN CASP10 RIPK1 COX7B MYH11 GPR35 AURKA PTEN MYLK SALL1 AXIN2 TTC37 DLC1 TP53 HABP2 HCCS BMPR1A SDHC AKT1 LRBA TTC7A MLH3 MSH2 MSH3 FLCN LONP1 NCF4 CFTR TRIP13 PALLD TCF4 CDKN2A POLR1D RET CTLA4 IL21 SH3KBP1 FOXE1 TFAP2A RHBDF2 LMOD1 MUTYH BCOR NIPBL PALB2 MLXIPL TGFBR2 KRAS FASLG SMAD4 IL10RB MLH1 BUB3 MNX1 FAS PKD1 CTNNB1 ZAP70 BUB1 FCGR2A OPLAH PDGFRL MST1 CARMIL2 TGFB1 SLC9A3 PLCG2 SEMA4A NRAS BAZ1B MKKS POLE UBR1 TLR2 CCBE1 DICER1 MDM2 TNFAIP3 FREM1 RFXAP F13A1 BAX LTBP4 LMNA GTF2IRD1 FAN1 GPIHBP1 RFXANK DACT1 CEP57 RFC2 NLRC4 PTPRJ KLLN POLD1 WIPF1 DCC LIG4 CDK8 GTF2I STAT1 CCNQ WAS MCC FGFR3 SPINT2 VANGL1 XIAP RAC2 NCF1 CLIP2 COG6 RASGRP1 NTHL1 CIITA INAVA HLA-DRB1 SKIV2L PIGV ARPC1B TCOF1 SOX10 RFX5 DMPK HLA-B BRCA1 PMS1 MSH6 ENG NSUN2 JAK3 GUCY2C NAA10 CYBA POLR1C RAD51C SEC23B BUB1B HPS1 PTPN12 AAGAB PLA2G2A MAP3K7 RNF43 COL14A1 BRCA2 IL10RA NCF2 ZMPSTE24 GREM1 EP300 MED12 FOXP3 RTEL1 RAD54B TBL2 NOD2 PRKAR1A TCTN3 MASP2 IRGM GATA6 FERMT1 ITGB2 RPS20 CYBB USF3 PIGN ACTG2 SDHA KIF7 IL6 CCND1 ODC1 NDUFB11 FLNB PRKCD SRC SMAD7 RPS19 POLA1 F13B RPS6KA3 SDHD HP_AGANGLIONIC_MEGACOLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGANGLIONIC_MEGACOLON FANCE PIGY DHCR7 TMEM231 SLC6A8 FANCM ERCC4 SOX10 EDN3 TMEM237 EDNRB KITLG KRAS GATA1 FANCL CEP41 KIFBP DDX59 RFWD3 CC2D2A TCF4 MITF SNAI2 PAX3 ARL6 EP300 ARMC9 KIT CCDC28B BRIP1 PHOX2B COMT ATRX TMEM138 ACTG2 SALL4 SH2B1 SF3B4 JMJD1C L1CAM GDNF PIGV PIGO CEP120 NPHP1 CSPP1 HIRA PIGL RAD51C MBTPS2 BRCA2 RREB1 ECE1 B9D1 FANCF EXOC6B MYO1H CEP290 NAA10 CREBBP TMEM67 RPGRIP1L MKKS RET TBX1 BRCA1 B3GALT6 SETBP1 ZEB2 BDNF FANCG INPP5E RMRP BCOR TCTN2 BBS1 MAD2L2 SLX4 GJB2 KIAA0556 FANCC FANCI PIGW SEMA3C PIGN FANCD2 ARVCF ARL3 FANCA PIBF1 NRTN TCTN1 FOXF1 ASCL1 XRCC2 GJB6 SEC24C AHI1 SEMA3D MKS1 CPLANE1 UBE2T ARL13B TMEM216 PGAP3 HYLS1 GP1BB CEP104 UFD1 ARX PALB2 PGAP2 FANCB KIAA0586 ZNF423 RAD51 HP_COLONIC_DIVERTICULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLONIC_DIVERTICULA MLH1 MSH2 ELN PTEN LIMK1 RFC2 BAZ1B PKD1 UBR1 PIK3CA GTF2IRD1 RET CLIP2 AKT1 MLXIPL GTF2I TBL2 HP_INTERMITTENT_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_DIARRHEA SMAD4 G6PC DAXX ATRX BRCA2 POLG PALLD B2M TYMP CDKN2A PALB2 BRCA1 TP53 GATA6 KRAS COG4 ACSF3 HP_CHRONIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_RHINITIS DNAH1 DNAI1 DNAL1 RSPH9 TNFSF11 DNAI2 TTC25 RAG1 SNX10 RSPH4A RAG2 CCDC103 TCIRG1 CLCN7 GAS8 SLC29A3 HP_EXAGGERATED_CUPID_S_BOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_CUPID_S_BOW GPC4 NXN B3GLCT PIGT ROR2 MED25 TBCK HNRNPU HP_LARGE_FLESHY_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FLESHY_EARS COLEC11 TRAPPC9 KCNH1 COLEC10 TAPT1 TBL1XR1 KCNN3 ALG9 MASP1 ATP6V1B2 PIGN HP_FOCAL_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CLONIC_SEIZURE SCN9A GABRA1 PCDH19 GABRG2 STXBP1 SLC12A5 KCNQ2 SRPX2 SCN1A SCN2A TBC1D24 SCN1B GRIN2A KCNQ3 HP_EXAGGERATED_STARTLE_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_STARTLE_RESPONSE SLC6A9 ASNS GM2A HEXA MTHFS SLC6A5 GLRA1 PLAA GLRB ARHGEF9 FKTN GPHN KLC2 TRAK1 FLRT1 HP_PAROXYSMAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSTONIA PRRT2 TBC1D24 FARS2 SLC2A1 PNKD DLAT HP_ABNORMALITY_OF_NEURONAL_MIGRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEURONAL_MIGRATION GNB1 RD3 FGFR3 CAMTA1 TMEM231 CDK6 LMAN2L KLHL15 STS KCNJ13 POMT1 B4GAT1 KIFBP PTEN CLP1 LARGE1 KIF11 IFT140 STIL GMPPB ATR TMEM138 PCYT1A ERMARD SMO WDR4 ADD3 PEX1 TUBA8 ZNF335 PAX6 FKTN CEP135 KANSL1 NUP133 AIPL1 KNL1 ZSWIM6 CRB2 SRD5A3 PEX6 B9D1 PHGDH EML1 WDR26 PAFAH1B1 DCHS1 PI4KA DYNC1I2 PLK4 SLC25A22 ZC3H14 CLIP1 TMTC3 GPSM2 MTOR PIGQ XRCC4 INPP5E TSEN2 TCTN2 PEX12 PEX10 FLI1 NUP107 OCLN PIK3CA POMGNT1 C2CD3 NEDD4L MLYCD CEP152 NFIX AKT3 CASK RPGRIP1L FBXO31 GFM2 MBOAT7 MED25 ARL3 CRPPA LAMB1 LAMA2 CTU2 DONSON TCTN1 TRAPPC9 COPB2 RAB18 ASPM VPS33B XPR1 TBR1 IQCB1 CRB1 TBC1D20 MED23 CPLANE1 PDGFRB PHC1 SUZ12 PIK3R2 AHI1 ARL13B TMEM216 RDH12 HSD17B4 PNKP SRPX2 CEP104 ARX TUBB2B POMGNT2 KIAA0586 CEP290 TMEM237 CRADD CCND2 VLDLR PEX14 RAC1 MECP2 PEX19 DMXL2 TUBA1A KIF2A LCA5 MACF1 CC2D2A BICD2 DHCR24 FIG4 NSDHL RAB3GAP2 OFD1 ARMC9 KIF14 ANKRD11 GPX4 POMT2 POMK PIGP TULP1 NCAPD3 PLAA FRRS1L WDR62 CEP120 PRSS12 PEX5 OSGEP KDM5B CEP41 AKT1 CENPJ RXYLT1 PGAP1 MN1 WT1 TRRAP GNAO1 MAN1B1 RSRC1 ST3GAL3 IQSEC1 EPG5 SASS6 ETFDH PEX2 COL18A1 FKRP SLC25A24 FAT4 TUBGCP6 NDE1 GUCY2D CSNK2A1 KCNA1 PEX13 POLR3A CPT2 KIAA1109 NEK1 MSH6 CDKL5 TUSC3 CCBE1 PMS2 MED12 DAG1 AIMP1 SUFU ASCC1 PIBF1 GPHN USP9X EDC3 CRBN NEUROD2 ANKLE2 ARFGEF2 NBN FTO QARS1 DOCK6 SON TPRKB ADGRG1 PEX16 PDE6D LRAT EOMES USP45 ASNS RAB3GAP1 SNAP29 RTTN STXBP1 TCTN3 RECQL4 CTNNA2 MLH1 MAPK8IP3 MCPH1 ALG11 CSF1R RPS6KA3 CDK5RAP2 LINS1 RNU4ATAC ISCA1 TUBB3 CENPE GMNN NPHP1 CSPP1 ARHGAP31 TUBG1 TUFM SLC45A1 LAMA1 FRAS1 PEX11B LAGE3 PEX26 TUBGCP4 GRIN1 DCX SCN2A TP53RK CDK5 ACTB USP18 PRKDC MSH2 PDGFB MYORG RPE65 FLNA TMEM107 ASXL1 DCPS TMEM67 KIAA0556 TAF13 KIF5C MFSD2A PIGC SARS1 ATP6V0A2 CEP63 CC2D1A TRIM8 ETFA MKS1 C12orf4 IER3IP1 EZR ACTG1 PSAT1 RMND1 KATNB1 ZNF423 ERCC1 MAP11 NSUN2 SPATA7 CUL4B TNIK CCDC88A ATP6V1A ATN1 ETFB COL3A1 FAM149B1 GDF6 GRIK2 BMPER IMPDH1 YWHAE FMN2 HYLS1 MPDZ DHCR7 PYCR2 METTL5 ZNHIT3 FMR1 COL4A1 SF3B4 KIF7 DISC1 B3GALNT2 IBA57 KIAA0753 TUBB RPGRIP1 KAT6B FH ADAMTS3 LAMC3 FOXG1 VIPAS39 GLI2 WDR73 TBL1XR1 TBC1D24 WASHC5 TRAIP TUBB2A CCDC22 ATXN2 NDST1 NMNAT1 HNMT SIK1 METTL23 WASHC4 HIC1 DHX37 RELN ARF1 PEX3 TUBGCP2 SLC20A2 VAC14 ATP6V1E1 AHDC1 DYNC1H1 SLC25A19 TMX2 EIF2AK3 TECR SCN3A CRX SCN1B MAP1B CIT JAM2 HP_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPARESIS TARDBP NEXMIF COL4A1 LRP4 GALC LIMS2 CHCHD10 UCHL1 NDUFS3 CARS2 BSCL2 GBE1 ADAR GJA1 NEK1 HINT1 MT-ATP6 NAXE ARFGEF2 PNP SARDH SLC19A3 TNFRSF11A NUP62 TBK1 LMNB1 UGP2 C9orf72 SQSTM1 VCP AGTPBP1 FUS HP_POOR_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_MOTOR_COORDINATION GABRA1 DARS2 PCDH19 GABRD SNORD116-1 C12orf65 BSCL2 DCC KCNQ2 BMPR1B NTN1 PRNP FKRP RAD51 SLC30A10 STX1B VCP SCN9A ATP7B FXN FMR1 SCN1A CXCR4 SNRPN RDH11 PWAR1 PIEZO2 GABRG2 PWRN1 NDN ADGRV1 RNU12 C19orf12 DNAL4 HCN1 SCN2A SUCLG1 PPP2R2B CAMTA1 MFN2 PDHX GMPPB GNB5 DMPK POMT2 RAI1 POMT1 FOXP2 HERC2 STXBP1 SCN1B NPAP1 MKRN3 MAGEL2 SNORD115-1 LARGE1 HP_ENLARGED_CISTERNA_MAGNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_CISTERNA_MAGNA BRF1 ACADVL NSD1 CSPP1 RAC1 FLNB OFD1 ALDH18A1 PMM2 OPHN1 KIAA0586 POMT1 POGZ FOXC1 COG1 PACS2 HP_GRAY_MATTER_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAY_MATTER_HETEROTOPIA RTTN TUBA1A KIF2A B4GAT1 PTEN MLH1 WDR62 MCPH1 ALG11 EPG5 CSF1R OFD1 STIL POMGNT1 CDK5RAP2 HYLS1 ANKRD11 MPDZ DHCR7 POMT1 GMPPB PYCR2 FLNA METTL5 RNU4ATAC FMR1 POMK FGFR3 ERMARD NCAPD3 DCHS1 ADD3 KAT6B TUBG1 CEP135 KANSL1 KNL1 AKT1 CENPJ LAMA1 ZSWIM6 CRB2 ARFGEF2 EML1 PAFAH1B1 DCX CRPPA CDK6 USP18 MSH2 KIF14 GPSM2 CEP152 SASS6 POMT2 TMEM107 ASXL1 FKRP TAF13 TMTC3 SLC25A24 FKTN FAT4 C2CD3 MFSD2A NEDD4L ARF1 KIAA1109 MSH6 TUBGCP2 PMS2 MED12 LAMB1 TUBB2B COPB2 ASPM CEP63 ANKLE2 PHC1 MAN1B1 PEX1 MAP1B KATNB1 CIT MAP11 ARMC9 HP_GLOBAL_BRAIN_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOBAL_BRAIN_ATROPHY GABRA1 TARDBP TANGO2 L2HGDH PANK2 PCDH19 AIMP1 PLA2G6 CHCHD10 NDUFB8 GFM1 SCN9A RAB3GAP2 TBK1 PIGT UNC80 CYB5A RNF113A SMG9 SURF1 GABRG2 TXN2 SQSTM1 VCP FUS NDUFAF3 ST3GAL5 PSAP TBCK TIMM8A CYB5R3 PRNP PUF60 SCN1A PYCR2 PNPO ACTL6B TDP1 STXBP1 SCN2A SON SPATA5 SCN1B ALG13 SCO2 NDUFS2 C9orf72 WDR81 ALG9 HP_FAIR_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAIR_HAIR TP63 UROC1 RMRP PDE4D PRKAR1A ESCO2 ABCA2 UBR1 SLC17A5 UBE3A LPAR6 AP3B1 PAH PIGN HP_ALOPECIA_UNIVERSALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_UNIVERSALIS VDR AHSG TRPV3 HR LMNA DSP HP_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_OF_SCALP COL17A1 PLEC ITGB4 ERCC3 KLHL24 TARS1 MPLKIP TTC7A RHOA MMP1 CLDN1 TP63 COL3A1 LAMA3 LAMB3 LAMC2 EBP SLC39A4 MBTPS2 ERCC2 GJB2 ECM1 COL7A1 GTF2E2 GTF2H5 RNF113A KRT14 HP_RED_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_HAIR TYRP1 ZNF469 PRKAR1A OCA2 PDE4D PCSK1 POMC MC1R HP_ABSENT_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAIR PHGDH LRP1 SNRPE NR5A1 ZMPSTE24 TWIST2 ANAPC1 ALX1 MAP2K2 SOX18 PPP2R3C UBE3B AR APOE MBTPS2 LMNA KRAS BRAF RECQL4 CDH3 ZBTB20 RIPK4 PKP1 EDA HR TCOF1 GJB6 UROS TTC7A GNRH1 FRAS1 TBX3 POLR1C TP63 HOXC13 EDARADD POLR1D GJB2 EPS8L3 KRT85 NECTIN4 SMARCA2 HP_BRITTLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRITTLE_HAIR LIPH TTC37 TARS1 MPLKIP DSG4 ATP6V0A2 KRAS KRT81 ANAPC1 KRT74 HEPHL1 ASL BCS1L PQBP1 BRAF ZMPSTE24 MAP2K2 SLC25A24 RNF113A KRT83 GJA1 RECQL4 ST14 PORCN SEC23A SPINK5 KRT86 GTF2H5 ERCC3 CDSN SKIV2L EDA TRNT1 MAP2K1 LPAR6 CBS GJB6 RPS23 KRT71 OFD1 CDH3 ERCC2 GTF2E2 NECTIN1 KRT85 KRT25 HP_MUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUTISM PLEC TARDBP C9orf72 EHMT1 GLE1 CHCHD10 HNRNPA1 SQSTM1 KRAS FGFR1 CSF1R CHMP2B MAPT SLC9A6 VCP GRN TCF4 PRDM8 TBK1 FTL TMEM106B COX7B CKAP2L COL1A2 PSEN1 SETBP1 NDUFA6 FUS TREM2 HCCS COL1A1 SMARCA2 TBP NDUFB11 ATP1A3 ACTG1 ADAMTS2 ACTB SLC19A3 HNRNPA2B1 ASAH1 AMER1 HP_HEMIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA SCN1A COL4A1 GALC PRF1 MT-CYB KRAS GNAQ SLC1A3 FGFR1 PAH SPP1 SNORD118 SUOX NOTCH3 GCDH HLA-DPB1 ARX ATP1A3 CACNA1A ADA2 HLA-DPA1 PTPN22 CTLA4 ATP1A2 DOCK8 TBC1D24 COL4A2 POLA1 STAT4 IRAK1 PRTN3 CTC1 HP_AKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AKINESIA TMEM240 DOK7 PANK2 CHRNA1 CHRND MAPT DNAJC13 VPS35 SLC18A3 SNCA FLVCR2 MYOD1 MUSK ATP13A2 CHRNG GBA PODXL CNTN1 LRRK2 EIF4G1 DNAJC6 SYNJ1 GIGYF2 ERBB3 VPS13C FGF14 RAPSN NUP88 HP_ATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATHETOSIS PDGFRB GAMT CACNA1A ACO2 PIGV SLC6A8 SUCLA2 SLC46A1 NGLY1 PRRT2 PDGFB CUX2 GNAO1 SMPD1 CYB5R3 WARS2 KIF5A SLC20A2 TRAPPC11 SLC17A5 AUH FOXG1 UQCRQ CACNA1D UBA5 PHGDH TWNK CYB5A RNASET2 NDE1 UBQLN2 EPRS1 FOXRED1 KCNA1 HCFC1 SLC16A2 PIGN ALDH18A1 HP_ARNOLD_CHIARI_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_MALFORMATION PAX2 NOTCH2 SLC39A14 DACT1 LIMK1 FUZ RFC2 MKS1 ELN STAT3 NOTCH3 SC5D FGFR2 MAN2B1 MLXIPL PIK3CA PPP1CB GTF2I TONSL DNMT3A TBL2 SIK3 SALL1 SKI POLR3A CLIP2 SETD2 POR PORCN FGFR1 GNAQ FANCI RFWD3 CHD4 PTCH1 SMO VANGL1 ERF BAZ1B CDC45 FBN1 TGFBR1 DHDDS TGFBR2 DKK1 LEMD3 HMGA2 MAF NFIA NONO GTF2IRD1 SON TBL1XR1 FGFR3 ZIC1 HRAS SETBP1 HP_OROFACIAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROFACIAL_DYSKINESIA MRE11 PANK2 COQ2 SLC35A1 SLC18A2 ADCY5 PNPT1 PRRT2 FTL VPS13A ATXN7 MICU1 PDE10A GNAO1 CHMP2B SLC6A3 JAM2 IREB2 PRKRA FGF14 HP_INCOORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOORDINATION GMPPB NKX2-1 DYNC1H1 DNAJC13 SLC6A8 CAPN3 GLRA1 NEB ELP1 FKRP PSAP ATXN10 GBA ATXN8OS NTN1 TIA1 ALG2 SPTBN2 ARL6 COL6A2 POLR3A TPP1 SCN1A CCDC28B PDE10A HADHA VPS13D GABRG2 RRM2B MED13L ADGRV1 MAPT NSD1 PLA2G6 CAV3 B4GALNT1 DNAL4 MYPN HLA-DRB1 DYRK1A SCN9A MFN2 KLHL41 ATP2B3 GALC ATXN3 NUP62 COL12A1 GIGYF2 ALG14 COLQ PRNP SDHB ABCD1 HLA-DQB1 MAN2B1 CLN8 RPIA GABRA1 ATP6AP2 COQ2 PDCD1 FIG4 COL6A1 ADAR UBE3A MLXIPL RAD51 MTHFR EED TTN AFF2 YWHAG TPM2 ARSA CRPPA POLG ACTA1 POLG2 ARHGEF2 SGCG GRM1 VPS35 GJB1 SLC18A2 KIF1C PLEC ADSS1 SCO2 SCN1B TCF4 TAF1 PANK2 SDHD TBC1D23 MRE11 DARS2 TANGO2 TWNK SLC52A2 SNCA SDHAF1 TTC19 SGCA NOL3 CLN5 MTR LMBRD1 SDHA LRRK2 GPHN FHL1 DPAGT1 EP300 ATP7B KBTBD13 ERCC4 TPM3 PMPCA RORA POGZ VCP RNF168 SLC25A15 PIK3R5 NEFH TCF20 CACNA1A STIM1 HCN1 SCYL1 ASAH1 TGM6 RNF125 STXBP1 CREBBP NOP56 C19orf12 PCDH19 EEF2 GABRD CHP1 SET ELN SLC22A5 ABCA2 BBS1 DCC COL6A3 FKTN POMT1 HINT1 MT-ATP6 STX1B SLC25A1 KCNC3 ATP1A3 MTPAP RDH11 FA2H DEAF1 SLC52A3 SQSTM1 MT-TE HUWE1 MTFMT RNU12 KCNA1 KCND3 SCN2A GDAP2 ATL1 DAB1 PYROXD1 GRID2 GFPT1 EIF4G1 HEPACAM PMP2 LYST TXN2 HADHB LAMB2 SLC25A4 CWF19L1 ALG13 HP_CLUMSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUMSINESS DARS2 NKX2-1 GALC SLC52A2 CAPN3 PLA2G6 SLC22A5 NEB CLN5 PSAP DCC TPP1 UBE3A MAN2B1 NTN1 PRNP RAD51 TIA1 KCNC3 POLR3A AFF2 ATP7B KBTBD13 TPM3 TPM2 DEAF1 SLC52A3 ARSA SQSTM1 MAPT RNF168 ACTA1 CAV3 DNAL4 CLN8 MYPN KCNA1 KLHL41 ATP2B3 TTN ATXN3 HEPACAM GJB1 RNF125 TWNK SCO2 PANK2 CWF19L1 ALG13 HP_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARESIS TRMT10A MICOS13 COASY GALC AIMP1 SDHAF1 TTC19 GOT2 C12orf65 GBA SELENOI GJC2 SDHA SPART POLG AFG3L2 SLC30A10 IDUA MAG TREX1 PPP1R15B BCOR RNASEH2C SPG7 MTPAP SOX10 FA2H MED13L PNP CCDC88C PEX16 C19orf12 RNASEH2A TBCE WDR45 ADAR PLP1 RNASEH2B IFIH1 EDNRB SAMHD1 ATP6AP2 GJA1 OPA3 SDHB SLC25A15 SDHD CPT1C SPG21 HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS TARDBP TBK1 NEFH CHCHD10 WASHC5 NIPA1 RTN2 SPAST SPG7 SQSTM1 SPG11 VCP PRPH PLP1 SLC33A1 CPT1C ATL1 FUS C9orf72 DCTN1 SOD1 HP_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEADACHE TWIST1 RSPH1 SPAG1 VHL JAK2 MVK MT-CO1 SH2B3 SCN8A FGFR2 EPCAM DNAH1 NF1 NOTCH3 MEFV IL12A-AS1 GABRG2 CASP10 CTLA4 SLC6A19 RELA MLX RPL5 RRM2B THPO ADA2 DNAAF1 MT-TC DNAH9 CCR1 BRAF RSPH4A MT-TK MT-TL1 MT-ND4 PDGFB PRRT2 CYP11B2 MLH3 MSH2 KLRC4 KCNQ3 GAS8 ACVRL1 CCDC65 MT-TQ AKT1 EGF CFI SCN1A MARCHF6 MYD88 FASLG MT-CO3 TREX1 SDHA C4A CORIN RPS28 RPL11 COL4A1 SLC25A11 CCM2 DNAAF6 MPL CCDC103 SPP1 RNASEH2B DNAAF4 HLA-DPB1 SUFU SDHC ESR1 TWNK TP53 SOST MT-TH NAGS HTRA1 NF2 FAS SDHD IL12A RET LPIN2 FOXJ1 POLG SMO DLST MYORG TET2 MT-TW GCDH DNAL1 VANGL1 PDGFRB BAP1 SDHB STAT4 KCNA1 KIT PEX11B RSPH9 NFIX IL23R ERF ERAP1 RPS27 RPS7 SMAD4 CFH NOP56 MT-TS2 ADAR DKK1 IFIH1 EPM2A MSH6 PMS1 TNF ATP1A2 SMARCB1 MT-ND5 FGFR3 MSX2 IRAK1 MEN1 EPOR PRTN3 UNC93B1 ALX4 DNAI1 MDH2 MT-ND6 DNAJB13 DNMT3A CNNM2 HLA-B RPS17 C11orf95 SLC2A1 RNASEH2C TGFB1 RPL35A RPS20 LRRC6 MT-CO2 DNAAF5 CCNO COL5A2 STOX1 RPL31 RPL15 PTEN MT-ATP6 LRRC56 CYP11B1 NLRP3 RPL27 DNM1L AMACR DNAAF3 SLC25A4 RASA1 MT-ND1 OPA1 NLRP12 CYB5R3 ADRA2B RPS24 MCIDAS GATA1 SLC1A3 SDHAF2 PMS2 PGK1 CSNK1D MT-TF CTNNB1 PDCD10 CFAP221 AMER1 RPS26 GP1BA PIGT RPGR STK36 AP2S1 RPL26 PIK3CA RPS29 OFD1 NME8 FH SCN2A SAMHD1 LRP5 GPR101 CFAP298 RPS10 CFAP300 SPEF2 FARSB MT-CYB ZMYND10 MT-TV AIP TGFBR2 FLT1 RNASEH1 CCDC39 ARMC4 TNFRSF1A UBAC2 APP DNAI2 NEK10 EPAS1 CDH23 PTPN22 SEMA4A KYNU POLG2 KRIT1 KCNQ2 TLR3 NDP TRAF3 CDC73 CACNA1A TRAF7 HTR1A F8 HLA-DPA1 TLR4 CTNND2 SLC12A3 FAN1 NOTCH2 TICAM1 RPS15A TERT ENG TTR GAS2L2 BMPR1A FLI1 GDF2 KIF23 CCDC151 ZFHX2 SRPX2 CLCNKB IRF3 IL10 IL12B RASGRP1 GRIN2A RPL18 RNF168 SH2B1 NHLRC1 DNAH5 TSR2 APC ACSF3 COL5A1 TTC12 TMEM127 ADAMTSL1 GATA2 MLH1 CLCN2 TBK1 KRAS CCDC40 SMAD3 COL1A1 YEATS2 PRKAR1A GP1BB RPL35 TTC25 DNAAF2 HELLPAR MAX DRC1 KIF1B RSPH3 SAMD12 GP9 RNASEH2A HYDIN EDNRA RPS19 CNTN2 SMARCE1 CD46 CCDC114 KCNJ5 MAOA CACNA1D PRKCD STIM1 SLC19A2 USP8 COL3A1 DNAH11 HP_UNSTEADY_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNSTEADY_GAIT SMS DARS2 DNM1 SHANK3 CAMTA1 MATR3 EIF2B3 GABRG2 SCN3A EIF2B4 GRIN2D STAG2 SLC13A5 DDHD1 RUBCN PPP2R5D ACTL6B BSCL2 MAPK8IP3 PEX2 EP300 VWA3B CLTC RNASEH1 CNKSR2 PNPO NAT8L SGCA SACS SLC1A2 CRAT PDE10A PMPCA CYP2U1 SYT14 ATP6V1A QRICH1 NECAP1 KCNQ5 SZT2 DPM3 OPA3 SCN8A CACNA1A AARS1 SYNJ1 MCM3AP UBA5 SUCLG1 VAC14 PPP2R2B PCNA WWOX ARV1 DHPS PDHX TRAK1 PPP3CA ATP2B3 KIF1C PLA2G6 HERC2 YWHAG KIF1A EEF1A2 ATXN10 NTRK2 TRPC3 CREBBP XRCC1 RAB11B HTT P4HTM PARS2 MME DCPS GAN GABRA2 MAST1 SAMD9L CIZ1 CACNA1G ATP6AP2 PACS1 MAPT GARS1 KCNA2 ATP7A GABRB2 MGAT2 CACNA1B AIFM1 EIF2B1 TPI1 PAK1 DAG1 DEAF1 CCDC88C PRKRA MTFMT PMP22 STUB1 FGF12 DHDDS CLCN4 CHD3 CYFIP2 EIF2B5 GABRA5 DAB1 EXT2 PRNP EIF2B2 GJB1 ZSWIM6 BCL11B ADSS1 GLRX5 KDM5B HCN1 ATXN8OS CWF19L1 AP3B2 KCNB1 SYNGAP1 STXBP1 ATP1A3 NUS1 RNF170 HACE1 REEP1 HP_CERVICAL_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_MYELOPATHY EXT2 EXT1 GALNS COL2A1 GLB1 ARSB HP_VERTIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTIGO JAK2 SDHD IL12A RET NAGA SLC1A3 DLST SDHB NF2 SDHAF2 VHL MVK SH2B3 STAT5B PRKAR1A FLI1 TET2 NF1 GCDH MEFV IL12A-AS1 CTNNB1 CLCNKB NABP1 IL10 RYR2 THPO PML STAT4 IL23R ERAP1 TRPM4 CACNB4 MYO7A GLA STAT3 DBH CCR1 NOP56 BRAF PDGFB SLC26A4 KLRC4 DKK1 CALM1 SDHC FH TBL1XR1 JUP KCNJ10 MYL2 TPK1 ATP1A2 CACNA1A BCOR GYG1 TMEM127 TRDN GATA2 MEN1 EPOR EGF SCN1B IRF2BP2 CACNA1G MDH2 FOXI1 DNMT3A SLC12A3 CNNM2 CCND1 HLA-B CALM2 MYD88 B2M ZBTB16 NKX2-5 SDHA TECRL TNFRSF1A C4A CALM3 UBAC2 MAX NUMA1 RARA KIF1B EPAS1 CDH23 AIP PTPN22 SLC25A11 KCNA1 SCN5A MPL FIP1L1 HFE CASQ2 TLR4 NPM1 ADA2 FAS COL3A1 COCH HP_RESTING_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTING_TREMOR MAPT CACNA1G MECP2 COQ2 DNAJC13 POLG VPS35 ADCY5 TWNK SNCA PARK7 EIF4G1 GBA ADH1C SNCAIP LRRK2 ATXN2 DNAJC6 FMR1 PINK1 VPS13C TBP RRM2B ATXN8OS DNMT1 OPA3 ATP6AP2 POLG2 PODXL GIGYF2 NR4A2 MAN1B1 SYNJ1 CHCHD2 ATP1A3 MICU1 TAF1 SLC25A4 RAB39B GLUD2 HP_ANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANENCEPHALY CCL2 SEMA3E HOXD13 TCTN2 RPGRIP1 FUZ PHGDH MKS1 FLVCR2 KIF7 KIAA0586 FIG4 TBX15 B4GAT1 FANCB WDR81 TREX1 SNRPB RPGRIP1L RNASEH2C HYLS1 CEP290 ARVCF CEP55 B9D2 TBX1 VAC14 COMT WDPCP CC2D2A B9D1 GLI3 DACT1 TBXT VANGL1 JMJD1C RNASEH2A CHD7 TMEM67 TMEM231 SEC24C HIRA TRIM36 ADAR RNASEH2B RREB1 IFIH1 SF3B4 TMEM107 SMOC1 VANGL2 SAMHD1 GP1BB NDE1 TMEM216 UFD1 TBC1D24 CSPP1 GPKOW HP_HYDRANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDRANENCEPHALY NDE1 SNRPB TBX15 PHGDH FLVCR2 GPKOW CEP55 WDR81 HP_TRANSIENT_ISCHEMIC_ATTACK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_ISCHEMIC_ATTACK SMARCAL1 ACTA2 ENG JAK2 SMAD4 PRKG1 KRAS GDF2 SMAD3 MFAP5 TGFBR3 NR2F2 LMNA LOX GATA6 TGFBR2 ELN THPO GLA MYLK SH2B3 GATA4 TGFB3 ANGPTL6 ACVRL1 MPL MAT2A FBN1 ZMPSTE24 COL3A1 TET2 TGFBR1 TGFB2 SON ACTG1 TP53 FOXE3 THSD1 ACTB HTRA1 PIGA MYH11 CALR MYBPC3 CRELD1 HP_DROWSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DROWSINESS CHRND SCN4A RAPSN DOK7 MT-CYB MTRR COL13A1 CHRNE MAN2B1 SLC25A13 SLC13A3 ABCC8 UCP2 HNF1A KCNJ11 HNF4A MUSK CACNA1A ZNHIT3 AK9 SLC19A3 KIF1A FBP1 THRA ATP1A2 PIGG CHRNA1 SPR LRP4 AGRN NAGS PTS CHRNB1 HCRT HP_RECURRENT_PAROXYSMAL_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PAROXYSMAL_HEADACHE MT-CO2 EPAS1 MDH2 MT-ND6 RET SDHD DNMT3A SLC25A11 MT-TS2 DLST SDHB SDHAF2 MT-ND1 MT-ND4 VHL DKK1 MT-CO3 NF1 MT-CO1 SDHA SDHC FH PRKAR1A MT-TF MT-TW MT-TQ MAX MT-ND5 MT-TL1 KIF1B TMEM127 MT-TH HP_MOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DETERIORATION HGSNAT SDHAF1 PLEKHG4 TK2 CLN5 GALC SDHB PAH RBM28 SDHD SDHA MECP2 CLN6 PRKAR1B HP_ABNORMALITY_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBELLAR_VERMIS RD3 RAB3GAP1 NPHP3 TMEM231 HTT PHGDH TMEM237 GRM1 TUBB SMARCC2 FRMD4A KCNJ13 POMT1 IFT172 B4GAT1 TCTN3 ARID1B IFT80 PPP1CB FKRP MYO5A GPC3 SMARCD1 LARGE1 IFT140 CC2D2A B4GALT1 SMG9 SACS CEP55 RAB3GAP2 ATR CPLANE1 RNU4ATAC KIF7 TMEM138 TUBB3 PCYT1A MEF2C MPL POMGNT2 WDR35 NPHP1 ACY1 CSPP1 FKTN NRAS SOX11 ATP2B3 AIPL1 INTS1 NCAPG2 PLG LAMA1 PIEZO2 SRD5A3 B9D1 SEMA3E GRID2 KIF1A HRAS PIK3R5 CHD7 TRIP13 WASHC5 TMEM216 DENND5A DLG4 PRKDC SLC35A2 CACNA1G TFAP2A RPE65 NID1 XRCC4 RPGRIP1 CEP120 INPP5E ASXL1 TCTN2 TMEM67 KIAA0556 GPC4 WDR60 SUFU SMARCB1 DAB1 WDR81 C2CD3 NUP37 BUB3 OFD1 CEP290 POMGNT1 PIGN RPGRIP1L ARL3 PSAT1 KIAA0586 RERE COG1 MME KLHL7 PRKCG ATXN1 FGFR1 TCTN1 BRF1 KRAS GLI3 EBP RAB18 ATP6V0A2 SLC18A3 IQCB1 TAF1 CRB1 TBC1D20 CENPF SMARCA4 GMPPB IGF2 MKS1 POMT2 AHI1 ARL13B ATXN8OS RDH12 ASXL3 CEP104 MVK PUM1 ZNF423 DPF2 RAPSN RBM10 MRE11 SPATA7 CUL4B RAC1 CEP57 ATP6V1A ATN1 INPP5K SIL1 TUBA1A FAR1 FAM149B1 LCA5 GDF6 FOXC1 CEP41 ZIC1 LMX1B IMPDH1 EPG5 ARMC9 HYLS1 PGAP1 DHCR7 RNF113A OPHN1 CACNA2D2 B9D2 WDPCP COL4A1 CRPPA DOK7 TULP1 GRIA3 TSEN54 CDC42 DCHS1 KIAA0753 DPH1 SCYL1 NOP56 PCGF2 TBCK STXBP1 RXYLT1 L1CAM TRRAP RAB11B TRAPPC9 CACNA1A WDR34 TBC1D24 ITPR1 BUB1B POMK CCDC22 PACS1 TMCO1 SOX4 BMP4 FLVCR2 CHP1 GOT2 MYOD1 NMNAT1 SLC25A24 ALX4 SMARCE1 FAT4 KCNQ1OT1 DAG1 GUCY2D ARID1A DYNC2H1 TRPC3 CEP164 NEK1 FA2H BUB1 CDKN1C PEX16 TMEM240 ATP6V1E1 RNU12 TSEN34 PIBF1 USP9X ARID2 MUSK B3GALNT2 SPECC1L KCNQ1 SLC25A19 GJB1 TMEM107 FTO TDP1 QARS1 EVC MAB21L1 CRX EXOSC8 EVC2 PMM2 CWF19L1 POLR3A WDR73 PDE6D LRAT AP1S2 SETX NUP88 USP45 HP_AGENESIS_OF_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CEREBELLAR_VERMIS TFAP2A CEP290 MEF2C MVK ALX4 ITPR1 TMEM216 RNU4ATAC INPP5E HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY TYROBP VPS13A NDUFAF3 NUP62 FOXP2 ATP13A2 BSCL2 TIMM8A HTT SURF1 ADAR COASY NDUFB8 JPH3 SCO2 NDUFS2 TUBB2B MT-ATP6 HP_CAUDATE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDATE_ATROPHY HTT TYROBP VPS13A JPH3 FOXP2 BSCL2 TIMM8A HP_CERVICAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_CORD_COMPRESSION IDUA COMP IDS EXTL3 RMRP HP_INTELLECTUAL_DISABILITY_MODERATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MODERATE TWIST1 SHANK3 PIGY RNU4ATAC CLCN4 LMAN2L APC CRADD SARS1 FTSJ1 DMXL2 TCF4 UPF3B ATRX LINS1 CC2D2A EGF CDK5RAP2 MED13L SETBP1 MED25 RAB39B HCFC1 ARX ARHGEF6 NFIX CXorf56 SLC45A1 TGM6 AKT1 RSPRY1 HPRT1 IL1RAPL1 FAM126A ZC3H14 CLIP1 ANK3 MECP2 YY1 DCPS TMEM67 TAF1 TMEM70 COQ8A INPP5E GRIN2A PIGC CASK RPGRIP1L CNKSR2 FBXO31 RPS6KA3 MID2 COG1 KIF5A NCAPH UBE2A MBOAT7 GLUD1 TRAPPC9 MAB21L2 CC2D1A HUWE1 MED23 TSPAN7 RBMX FGFR2 SMOC1 C12orf4 EBP ASXL3 EZR PIGV ENTPD1 PTCHD1 ACSL4 NSUN2 TNIK WDFY3 GRIK2 ZNF711 PPP2R5D FOXP1 EXT2 USP27X FMN2 ANKRD11 THOC2 FGFR3 PSPH COG5 FMR1 RTTN NHS FBLN1 GRIA3 PIGO FRRS1L DCHS1 DNMT3A KLF13 TTI2 PRSS12 ALG13 KDM5B AGTR2 PIGL PUF60 SLC35A3 IQSEC2 PAK3 PGAP1 LAMA1 SLC3A1 PTDSS1 STAG2 PGM3 MAN1B1 TUBB3 COL1A2 PREPL RSRC1 ZNF41 ST3GAL3 IQSEC1 CDH11 FRMPD4 CNNM2 B3GALNT2 NDST1 CHRNA7 HMGCL PAX1 MED12 DLG3 ALX4 HNMT FAT4 SYP METTL23 WASHC4 GDI1 PIGW DMD POLR3A SLC9A7 PCDH19 RDH11 TUSC3 TBCD KCNJ10 MT-TE AIMP1 AP1S2 USP9X EDC3 CRBN PPM1B TECR CACNG2 CENPJ CUL4B PGAP3 PRMT7 XYLT1 CWF19L1 SPATA5 GTF2E2 PGAP2 ZIC1 ZNF81 NCAPD2 CAMKMT HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION IDUA PDGFRB GBA HEPACAM GALC GLB1 TIMMDC1 PTS SDHAF1 SYNJ1 LMNB1 BSCL2 PSAP GCH1 NAGLU HNF1A SDHA KCNJ11 SUMF1 ABCC8 NDUFA6 VCP RAB27A RRM2B ALDH18A1 ITM2B EPM2A ARSA TINF2 KCTD7 CTNS UCP2 HNF4A HEXB HIBCH HSD17B10 QDPR NHLRC1 MCOLN1 SDHB GRN SDHD CNTNAP2 HP_ACTION_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACTION_TREMOR VLDLR MRE11 NKX2-1 RARS1 CAMTA1 TENM4 ATP13A2 ATP2B3 MPLKIP NKX6-2 FMR1 PSAP PMP22 TPP1 MT-ND1 REEP2 MT-CYB NGLY1 SCARB2 POLR3B GJC2 SPTBN2 VWA3B POLR3A GCH1 MAG PTEN PRICKLE1 GSS MT-ND5 SACS UROC1 ATXN2 COL6A3 QRICH1 SLC30A10 DRD3 MT-ATP6 MT-ND2 FUS GTF2H5 BSCL2 TMEM106B OPA3 CACNA1A TMEM70 ERCC3 MT-CO1 MT-CO3 SLC6A17 MT-ND4 PPP2R2B SCYL1 NOP56 MFN2 AKT1 SCP2 TGM6 VAPB KIF1C ANO10 CARS2 CSTB HIBCH JPH3 LAMA1 ATXN10 STXBP1 PIK3R5 ITM2B TUBB4A ERCC2 NDUFS2 ITPR1 GTF2E2 PNPLA6 RNF113A GABRA1 CACNA1G ATP6AP2 XPNPEP3 MT-ND6 TH PCDH19 COQ2 POLG TARS1 PEX10 UCHL1 CTDP1 MT-ND4L PARK7 NFASC UFC1 FBXO7 ATCAY DNAJC19 PRKRA ALDH18A1 ELOVL4 SCN9A KCNC3 FXN MPZ TK2 SNCA GABRG2 ANO3 PLP1 AFG3L2 PPP1R15B CCDC88C FGF14 ATN1 ATXN1 BRAT1 IFRD1 STUB1 RNU12 RFC1 NIPA1 TMEM240 ARSA SLC9A1 PIK3CA KCNJ10 MAOA ABHD12 SCN1A GJB1 TBP FLVCR1 FAM126A FARS2 PLA2G6 KCND3 NONO CWF19L1 SCN2A EPRS1 SCN1B ABCB7 SETX HP_HEAD_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TREMOR IFRD1 STUB1 CIZ1 CACNA1G DNMT1 ANO3 GBA2 UCHL1 SLC52A2 MTM1 NKX6-2 NOP56 ITPR1 SCP2 GJC2 KIF1C PEX6 HIBCH LAMA1 PPP2R2B PIK3R5 SETX PLP1 AFG3L2 FGF14 HP_FOCAL_AWARE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_AWARE_SEIZURE SCN9A GABRA1 TBK1 PCDH19 RELN STXBP1 TICAM1 SCN2A TLR3 GABRG2 MICAL1 SCN1B TRAF3 LGI1 UNC93B1 SCN1A HP_CEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CYST SNX14 NPHP3 CEP57 TMEM231 PHGDH ATP6V1A GRM1 TUBB SMARCC2 FAR1 COL3A1 POMT1 ATP6V0A2 B4GAT1 ARID1B ZIC1 B4GALT1 IFT80 PPP1CB FKRP GPC3 SMARCD1 LARGE1 POMGNT1 HYLS1 DHCR7 RNF113A SMG9 OPHN1 CEP55 B9D2 GMPPB POMT2 WDPCP KIF7 FKTN POMK COL4A1 CRPPA DOK7 GRIA3 B3GALNT2 POMGNT2 CDC42 WDR35 CC2D2A DPH1 NRAS SOX11 PLG LAMA1 ZSWIM6 RXYLT1 PIEZO2 TMEM237 SEMA3E HRAS CHD7 TRIP13 WASHC5 TMEM216 WDR34 TBC1D24 BUB1B DENND5A CSPP1 SLC35A2 NID1 TCTN2 CCDC22 RPGRIP1 CEP120 SOX4 MKS1 FLVCR2 MYOD1 ASXL1 GPC4 SMARCE1 TMEM67 WDR60 SUFU KCNQ1OT1 SMARCB1 DAG1 WDR81 C2CD3 ARID1A DYNC2H1 BUB3 CEP290 PIGN KIAA0586 BUB1 CDKN1C KLHL7 TMEM138 B9D1 FGFR1 SMARCA4 KRAS GLI3 ATP6V1E1 EBP AHDC1 EXOSC3 USP9X SLC18A3 ARID2 MUSK KCNQ1 OFD1 RPGRIP1L PSAT1 IGF2 TMEM107 FTO DOCK6 EVC MAB21L1 EVC2 PMM2 POLR3A WDR73 DPF2 AP1S2 ARMC9 RAPSN NUP88 HP_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOENCEPHALOPATHY SHANK3 CTBP1 HEPACAM SCO1 NDUFAF5 TRMT1 EIF2B3 MARS2 MPLKIP GLUL RTTN CLN6 EIF2B4 PSAP ARHGAP31 AIFM1 MT-ND2 POLG TACO1 NUBPL CSF1R TREX1 AARS2 DPM2 MT-ND3 PET100 GTF2H5 TYMP MRPS22 FGFRL1 TBCK MEF2C NFE2L2 SPG11 NDUFS3 RRM2B NDUFV2 AUH LAMA1 AP4M1 HIBCH COX10 PRNP PC GTF2E2 NDUFB11 RPIA RNF113A NDUFS1 L2HGDH DOCK6 COA8 LIPT2 TIMMDC1 NDUFAF8 NDUFB10 FKRP KIF5A HTRA1 ALDH18A1 COX8A CYP27A1 SEPSECS DLL4 MORC2 SDHAF1 ARSA ATP13A2 LAMB1 PMPCB NDUFS6 SSR4 FA2H YME1L1 FOXRED1 BRF1 DDHD2 COL4A1 RBPJ COA7 MT-ND1 EIF2B5 GALC NDUFS4 NDUFAF4 GMPPB EIF2B2 EARS2 MT-TN LETM1 NDUFS8 NDUFAF3 TMEM126B CTC1 AP4B1 SAMHD1 NDUFAF2 TYROBP TET3 COX6B1 LMX1B COX14 DEGS1 GJC2 OCRL NSD2 DARS2 AMPD2 NDUFA6 ISCA2 LYRM7 AP4S1 VPS11 COA3 TMEM70 ERCC3 B3GALNT2 PLAA CDC42 TSEN54 NDUFS2 NDUFV1 SCP2 NOTCH1 STXBP1 POMT2 MLC1 CPLX1 RAC1 DARS1 NDUFA1 ERCC2 NDUFA11 SDHA CLCN2 HIKESHI SDHD TARS1 LMNB1 HMGCL NDUFAF1 AP4E1 EOGT NAXE LARGE1 EIF2B1 NDUFB3 COLGALT1 USP7 RFWD3 NOTCH3 NDUFB9 COX20 CLCN4 SUMF1 SNORD118 AP5Z1 GM2A POMT1 DNM1L RNASET2 SON NDUFS7 PUF60 ARID2 OPA1 HP_MEMORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMORY_IMPAIRMENT TYROBP PDGFRB C9orf72 TREM2 DNMT1 BAP1 IL12A CAMTA1 EIF2B3 GNE TERT TNFSF4 EIF2B4 FMR1 PSAP SMO CSF1R XPR1 TOMM40 SLC25A13 HLA-DRB1 MYORG REEP2 CHMP2B VCP PDGFB SORL1 PMS2 PRKCG SIM1 GRN VAMP1 BMPR1A EPCAM NOTCH3 MEFV MT-TF IL12A-AS1 MEN1 SPG7 PSEN1 IL10 MAPT UGT1A1 APP PRKAR1B STAT4 IL23R ERAP1 CP PIK3CA CCR1 VPS13A MT-ND1 MT-ND4 MLH3 MSH2 HLA-DQB1 KLRC4 ACSF3 KCNQ3 ATXN3 SMARCB1 MT-CO1 SCN2A SQSTM1 MSH6 PMS1 MT-TW PRNP MT-TQ MT-ND5 AKT1 SPAST JPH3 MOG MLH1 PSEN2 GSN MT-ND6 RRM2B HLA-B KRAS MYD88 ABCA7 SLC20A2 TGFBR2 RNASEH1 MT-CO3 HCRT TREX1 C4A EIF2B1 TMEM106B UBAC2 ALDH18A1 POLG ZNF365 SCN8A RPS20 AFG3L2 FGF14 ATN1 ATXN1 P2RY11 MT-CO2 STUB1 SEMA4A ARSA MT-TS2 KCNQ2 EIF2B5 PAH APOE SMARCE1 EIF2B2 TRAF7 PRRT2 SUFU ECM1 TLR4 ADA2 MT-TL1 TWNK MT-TH FAN1 NF2 FAS CTSH HP_DIFFICULTY_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_WALKING CCN6 GMPPB ERLIN1 DNM1 GLE1 CAPN3 SH3TC2 VAMP1 NEB SCN3A NKX6-2 FKRP PSAP SLC13A5 STRADA SURF1 PLEKHG5 DHTKD1 DMD TIA1 ACTL6B ALG2 KLHL9 TRAPPC11 DNM2 NUBPL CNKSR2 REEP1 SACS SLC1A2 HERC1 COASY ATP6V1A WASHC5 MED25 MYOT LRP4 SCN8A B4GALNT1 CYP2R1 MSTO1 SYNJ1 PIK3CA WWOX MYF6 TPM2 TRAK1 HSPB3 KLHL41 GALC INTS1 AP4M1 SLC5A7 TGM6 GRID2 NTRK2 WARS1 SAMHD1 ALG14 NACC1 DAG1 MORC2 AKT1 RSPRY1 GAN CYP27B1 SGCD GABRA2 ATRX HK1 CIZ1 SGCB ELOVL5 TCAP COL13A1 MARCHF6 MT-TW CACNA1B GYG1 PEX6 TREX1 TTN DES DYSF LRP12 CRPPA DDHD1 ATP13A2 TTBK2 SPG21 PNPLA2 BIN1 FA2H ACTA1 WDR48 ORAI1 PDGFB ARSA SETX SLC18A3 CYFIP2 MICU1 FLNC ABHD5 CAPN1 PUS3 GJB1 BICD2 RNASEH2B TRAF7 GOSR2 SUFU AP3B2 EEF1A2 KCNB1 TAF1 STXBP1 NF2 NUS1 GPAA1 CPT1C TBC1D23 CACNA1A HACE1 PDK3 DARS2 MYO9A RARS1 BAP1 GPT2 CRYAB MATR3 AGRN GABRG2 TERT GRIN2D SMO TPP1 SNAP25 CDK8 VCP GABRB2 DPAGT1 CLTC CHCHD10 BVES ATP7B KBTBD13 TPM3 PGAP1 NDUFS8 SLC25A19 TK2 NECAP1 SLC30A10 PRX SZT2 KLC2 MYH7 AP4S1 C19orf12 AARS1 GJC2 SLC52A2 UBA5 MYPN VDR NOP56 ARV1 ASAH1 KY AP4B1 ERLIN2 CDKL5 ADAR IFIH1 YWHAG SMARCB1 MFN2 IBA57 RAB11B SLC25A1 PARS2 ARSI RYR1 HSPB1 HPCA MECP2 KCNA2 MT-ATP6 MTMR14 PPP3CA AP4E1 FKTN ARL6IP1 SPART POMT1 CHAT FLRT1 KCNC3 RNASEH2C NKX2-1 SBF2 SQSTM1 FHL1 GBA2 STUB1 FGF12 RNU12 RNASEH2A DHDDS DNA2 ADCY5 USP9X KCND3 GABRA5 POMT2 C12orf65 EIF2S3 SMARCE1 GFPT1 PYCR2 PMP2 HCN1 SYT2 RTN2 FBXO38 SYNGAP1 SLC30A9 SLC34A3 FGF14 ANO5 FDX2 HP_WRITER_S_CRAMP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRITER_S_CRAMP CIZ1 TOR1A GCH1 FTL GNA11 COL6A3 TBP SGCE PRRT2 KCTD17 TBC1D24 THAP1 KCNA1 HINT1 CASR DRD2 HP_DYSPHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHASIA PLEC C9orf72 L2HGDH EHMT1 NSDHL GRIN2A KRAS STS FGFR1 MAPT VCP GRN TCF4 CACNA1A SCN1A TMEM106B ARVCF FLCN SCN8A TBX1 COX7B CKAP2L COMT ATRX COL1A2 PSEN1 PRRT2 JMJD1C TREM2 TCOF1 HCCS KCNQ2 CHMP2B SEC24C COL1A1 HIRA SMARCA2 RREB1 KCNQ3 OCRL NDUFB11 RAI1 CFH SCN2A SQSTM1 CFHR1 POLR1C ATP1A2 GP1BB UBTF POLR1D ACTG1 ADAMTS2 UFD1 ACTB CFHR3 AMER1 HP_FREQUENT_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FREQUENT_FALLS MRE11 GMPPB DYNC1H1 DNAJC13 TWNK GLRA1 SNCA SDHAF1 SGCA NOL3 FKRP PSAP GBA PANK2 SDHA LRRK2 GPHN ALG2 FHL1 DPAGT1 COL6A2 NEB PDE10A HADHA VPS13D RRM2B VCP PIK3R5 NEFH MAPT TPM2 B4GALNT1 STIM1 MYPN SCYL1 MFN2 ASAH1 ATP2B3 GALC KIF1C TPM3 NUP62 COL12A1 GIGYF2 ALG14 COLQ SDHB C19orf12 ATP6AP2 COQ2 FIG4 CHP1 COL6A1 ADAR COL6A3 PRNP FKTN POMT1 HINT1 MT-ATP6 SLC25A1 TTN MTPAP FA2H ARSA CRPPA MT-TE POLG RNU12 ACTA1 POLG2 ARHGEF2 SGCG GRM1 GDAP2 ATL1 DAB1 PYROXD1 VPS35 GFPT1 EIF4G1 PLEC GJB1 PMP2 ADSS1 SCO2 HADHB LAMB2 TAF1 SLC25A4 CWF19L1 SDHD HP_SLEEP_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_DISTURBANCE TWIST1 NKX2-1 CCDC47 DNAJC13 LIMK1 SOX3 LMAN2L TNFSF4 TSC2 POMT1 CPOX GPHN GBA SGSH HLA-DRB1 AFF4 SLC22A5 FGFR3 TCF4 KIF11 ELN GABRG2 NADK2 PWAR1 TBP UCHL1 PRPH SLC2A1 HCRT GPR101 LTBP3 SH3BP2 MTRR SNCA DBH DNA2 BRAF FKTN AIFM1 HLA-DQB1 NR4A2 SLC5A7 TELO2 EML1 GIGYF2 COLQ WDR45 PRNP DNMT1 AKT1 ATXN3 SHANK3 HRAS SLC25A22 ZC3H14 CLIP1 RAI1 ANK3 CEP57 USP7 PIGQ COQ2 GATAD2B WDR4 COL13A1 FTL MECP2 C2CD3 SARDH NTNG2 SEPSECS RAD21 HGSNAT CORIN NFIX FBXO31 FLCN VPS13C MED25 ZNF365 RERE NDN MBOAT7 TRAPPC9 IQSEC2 SLC18A3 HDC TAF1 ASCL1 CISD2 MED23 APOE MFSD8 DHX30 TSPYL1 PSEN2 SUFU FARS2 ATAD3A ASXL3 MAGEL2 SMC1A ACAT1 EDN1 GTF2IRD1 LARP7 NAGS DDC LIAS NF2 SNORD115-1 MAPT MYO9A SPIB RFC2 DMXL2 SLC6A5 AGRN SMO POU1F1 LHX4 SNAP25 SNCAIP LRRK2 EP300 NSDHL FOXE1 BAP1 DEAF1 SIN3A SNRPN FGFR1 CLIP2 HESX1 PIGP SLC5A5 DOK7 FGFR2 TCF20 GRIA3 FRRS1L TTI2 PRSS12 PCGF2 TSHR KDM5B DMPK DUOX2 CDKL5 SOD1 DKK1 SYT1 EPM2A PGAP1 STAG2 WFS1 CREBBP IDS GNAO1 MAN1B1 SLC25A1 RSRC1 ST3GAL3 IQSEC1 UNC93B1 GSN EPG5 EHMT1 GNAI3 PTS ATXN7 ASPA FBXO7 IL12RB1 NDST1 GLRB PAX8 KCNA1 PER3 SETD5 TUSC3 MMEL1 PWRN1 KMT2A AGA AIMP1 SATB2 P2RY11 STOX1 PYGL IRF5 TFAP2B AHDC1 EDC3 NKX2-5 RUNX2 HDAC4 NGLY1 CRBN NEUROD2 EIF4G1 SYT2 GJB1 LAMB2 PRMT7 HDAC8 GABBR2 SLITRK1 SMARCC2 CTSH NUP88 DCTN1 SLC26A4 NALCN DHCR7 NEFH VAMP1 RTTN STXBP1 TRPV4 ADH1C SLC25A13 CRADD FKRP CSNK1D RPS6KA3 LINS1 CTNNB1 PGAP3 SYNJ1 TDP2 ATXN8OS NIPBL GNE TUBB3 SLC18A2 PIK3CA GNS MFN2 SLC9A6 PLCB4 SLC45A1 HIBCH ADNP BMP2 PODXL NPAP1 PHOX2B SCN2A HTT LHX3 P4HTM SMC3 RET CASK DCPS NRXN1 UBE3A SEPTIN9 NAGLU PPT1 MLXIPL HMGCL AIP CHD8 FLT1 PIGC LARGE1 SPR SARS1 NAA10 PARK7 CC2D1A GCH1 HTRA2 BAZ1B PDGFB PROKR2 WAC CRY1 TLR3 NDP VPS35 TRAF3 DPYS TRIM8 SOX2 TNPO3 TRAF7 POMT2 C12orf4 FBP1 HERC2 DUOXA2 ARX NONO COA8 EZR RIC1 SHROOM4 SLC12A3 RAPSN NSUN2 CERT1 TNIK PINK1 PER2 MBD5 ATN1 TICAM1 PROP1 BSCL2 TERT GRIK2 GTF2I TPO ATXN2 ATAD1 TSHB PIGT FMN2 MEN1 KIF15 SRPX2 UNC80 GNPTAB CLCNKB POGZ GRIN2A POU2AF1 NHLRC1 VPS13A CDH23 FOXG1 SMARCB1 SPART ATXN10 TWNK MKRN3 IDUA ARCN1 MOG IL12A DPH1 PRKN FLII TBK1 ARNT2 PNKP IYD B3GALNT2 SNORD116-1 MYOD1 PRPS1 TG CNTNAP2 HNMT CHAT TSC1 TRIO SIK1 METTL23 WASHC4 TBL2 OTX2 CTCF HMBS TBC1D24 GLRA1 NACC1 MUSK SMARCE1 TECR SKI TRHR TNFSF15 SCN1B USP8 WDR73 PUF60 FXR1 COL3A1 GLUD2 DNAJC6 HP_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_DETERIORATION ATP6V1E1 RRM2B HEXA ATP6V0A2 ATP6V1A CLN3 PSAP GALC SMC1A PPT1 PLP1 KMT2A RNASEH1 HP_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHUFFLING_GAIT MAPT MECP2 KDM5C GBA SLC18A2 NAA10 SGCD DNAJC13 POLG SNCA TIMM8A CSF1R VPS35 ADH1C FBXO7 PODXL TRPV4 SNCAIP LRRK2 NR4A2 ATXN2 SYNJ1 EIF4G1 DNAJC6 DCTN1 GIGYF2 L1CAM TK2 TAF1 TBP C19orf12 COL2A1 ATXN8OS PRKAR1B RAB39B GLUD2 HP_ABNORMALITY_OF_BRAINSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BRAINSTEM_MORPHOLOGY SNX14 DNAJC3 ASNS NDUFAF5 RTTN FMR1 RANBP2 POMT1 NDUFB8 AIFM1 B4GAT1 KIFBP CTNNA2 MT-ND2 FKRP TGFBR3 SPTAN1 COASY SACS MT-ND3 SURF1 GMPPB CHD2 TUBB3 CHMP1A COG8 MTRR PDCD10 TUBA8 PIK3CA FKTN NDUFS3 NDUFV2 PIEZO2 KIF1A COL3A1 PAFAH1B1 AKT1 NAGA RARS2 DYNC1I2 SCO2 NDUFS2 NDUFB11 NDUFS1 SLC35A2 TRMT10A CACNA1G TMTC3 POMK TBCD MYMK LARGE1 ASXL1 TSEN2 TIMMDC1 NDUFAF8 NDUFB10 POMGNT1 TRAPPC12 PCLO FARS2 WNT1 PIGA KIAA0586 VRK1 TSEN54 RERE FCSK LAMB1 LAMA2 CUX2 ATXN1 NDUFS6 UBE2A FA2H FOXRED1 BRF1 GTPBP3 TRAPPC6B ARHGEF2 PDGFB CCM2 TBP MT-ND1 NDUFAF4 CEP290 DOCK7 TOE1 COG5 TRAF7 POMT2 SLC19A3 TNFRSF11A ATXN8OS SUFU PMM2 THSD1 CSPP1 NDUFS8 NDUFAF3 NF2 RPGRIP1L TMEM126B FGFR3 VLDLR BAP1 TMEM216 ETHE1 TERT TUBA1A SMO DNM1 MACF1 ZIC1 INPP5E FLI1 ZNHIT3 DEGS1 PPP1R15B POGZ NDUFA6 DNMT1 ADGRG1 NFIX ROBO3 B3GALNT2 TUBB NDUFV1 AHI1 FH DKK1 CEP55 NPHP1 NDUFS4 SMARCB1 LAMA1 CLP1 TWNK RAC1 TRRAP NDUFA1 NDUFA11 CRPPA MAST1 EPG5 TUBB2A GALC ATXN2 FLVCR2 ENG NDUFAF1 PPP2CA AHCY PPP2R1A DNAJC19 NDUFAF2 HOXA1 MYH3 RELN TMEM67 KIAA1109 NDUFB3 GABRB3 TUBB2B SCN1A NDUFB9 STUB1 GPHN DYNC1H1 USP9X ANGPTL6 SMARCE1 TMX2 C12orf65 PYCR2 MAPK10 KRIT1 MAB21L1 DNM1L NDE1 NDUFS7 WDR73 MFSD2A OPA1 CIT NUBPL HP_HYPOPLASIA_OF_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_BRAINSTEM VLDLR TRMT10A TMTC3 POMK TUBB2A TMEM216 POMT2 FLVCR2 MYMK ASXL1 TSEN2 TUBA1A COL3A1 POMT1 PPP2CA B4GAT1 KIFBP MACF1 CTNNA2 INPP5E POMGNT1 FKRP LARGE1 PCLO PPP1R15B COASY MYH3 KIAA1109 GMPPB FCSK LAMB1 FKTN TUBB3 BRF1 CHMP1A ADGRG1 NFIX TSEN54 MTRR DYNC1H1 USP9X TUBA8 TUBB FH TOE1 TMX2 CEP55 PYCR2 PIEZO2 RAC1 PAFAH1B1 NDE1 CSPP1 DYNC1I2 WDR73 MFSD2A CRPPA RPGRIP1L MAST1 CIT HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY ALS2 TARDBP TREM2 MATR3 CHCHD10 C19orf12 SETX SQSTM1 TRPM7 TBK1 CHMP2B SPG11 PLEKHG5 VCP TMEM106B ATXN3 GRN C9orf72 SIGMAR1 DCTN1 MAPT PSEN1 FUS HP_VISUAL_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_HALLUCINATIONS FIG4 EPM2A DNAJC5 CACNA1A DNAJC13 GIGYF2 SNCA ATP13A2 NHLRC1 CPOX CLN6 SNCB GBA VPS35 PUS3 FBXO7 PPOX LRRK2 EIF4G1 HP_POOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_COORDINATION SLC25A15 EED NSD1 ARL6 EP300 TANGO2 TCF20 YWHAG TXN2 SLC6A8 CREBBP ERCC4 KCND3 ELN CCDC28B BBS1 KCNA1 MTR MLXIPL HUWE1 TBC1D23 RNF168 HP_LOSS_OF_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SPEECH C9orf72 RNASEH2A GALC PSAP NPC2 ARSA TREM2 CHMP2B MAN2B1 PPT1 MAPT ADAR BSCL2 GRN RNASEH2B ALS2 ALDH18A1 IFIH1 SARDH TREX1 GM2A SAMHD1 SQSTM1 NAXD HGSNAT RNASEH2C TPK1 TMEM106B SPG7 AARS2 ERLIN2 ABCD1 SLC30A9 PSEN1 VCP NPC1 IRF2BPL HP_DIMINISHED_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOVEMENT PANK2 CHRNA1 MRPS16 TH CHRND MAPT KLHL41 DNAJC13 VPS35 TWNK SLC52A2 GLRA1 ACTA1 SNCA FLVCR2 MYOD1 PDE8B NEB CHRNG GBA GFM1 PRNP LRRK2 GPHN WWOX PAM16 DNAJC6 ALG11 AIFM1 DPM2 VPS13C RRM2B CFL2 LAMA2 POLG LMOD3 TMEM240 DOK7 TPM2 LAMP2 SLC18A3 POLG2 MUSK ATP13A2 KLHL40 PPP2R2B MPZ PODXL CNTN1 SLC6A3 EIF4G1 SYNJ1 TPM3 GIGYF2 ERBB3 SLC25A4 FGF14 MTM1 RAPSN NUP88 HP_HYPOKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKINESIA MRPS16 TH KLHL41 TWNK SLC52A2 GLRA1 ACTA1 MYOD1 PDE8B NEB GFM1 PRNP GPHN WWOX PAM16 ALG11 AIFM1 DPM2 RRM2B CFL2 LAMA2 POLG LMOD3 DOK7 TPM2 LAMP2 SLC18A3 POLG2 MUSK SNCA ATP13A2 KLHL40 PPP2R2B MPZ SLC6A3 GBA TPM3 SLC25A4 MTM1 RAPSN NUP88 HP_DEVELOPMENTAL_REGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_REGRESSION GNB1 DNM1 HACE1 LIMK1 CHD2 EIF2B3 SCN3A EIF2B4 NUP62 PSAP RANBP2 STXBP1 NDUFB8 NARS2 SLC13A5 NGLY1 POLG SCN8A FOXG1 PMS2 CDKL5 ACTL6B EPCAM ZBTB20 NOTCH3 POLR3A PEX7 MEFV NDUFV1 UBTF ASPA ELN ERCC5 IL12A-AS1 CNKSR2 SCN1A SLC1A2 SURF1 ATP6V1A GABRG2 NDUFV2 BOLA3 ISCA1 ADGRV1 KCNT1 TRAK1 GRIN2B COG8 WASF1 SYNJ1 TBCK VAC14 GLA HTT CCR1 WWOX SCN9A MLH3 XPC PPP3CA MSH2 GALC TUFM PEX13 BSCL2 KLRC4 ATP7A PEX10 PEX11B GUF1 CNPY3 CAD MT-ND1 CPLX1 PLCB1 ADNP COQ2 NTRK2 SAMHD1 NAXD HSD17B10 GABBR2 SCN2A SDHB GABRB1 ARX NAGA TTPA NDUFAF6 GABRA2 SCO2 NDUFS2 CLN8 ACOX1 AGTPBP1 SLC25A22 PEX1 HIBCH ADPRS GABRA1 CASK L2HGDH PIGQ COASY TBCD CTNNB1 PDSS2 PHYH PEX12 ADAR CACNA1B TGFBR2 COQ8A TRAPPC12 SIK1 MT-ATP6 MECP2 TREX1 AGA NTNG2 C4A SERAC1 UBAC2 AP2M1 GFM2 MBTPS2 SDHAF1 ARSA PMPCB SLC39A14 LYST PEX2 SEMA4A HNRNPH2 AAAS BAZ1B CYFIP2 EIF2B5 ROGDI TPP1 KCTD7 NDUFS4 TBC1D24 PEX26 CISD2 NDP NTNG1 ST3GAL3 TRIM8 RNASEH2B EIF2B2 TRAPPC2L PCYT2 EARS2 GLRX5 SCN1B FARS2 AP3B2 EEF1A2 TLR4 KCNB1 RHOBTB2 COA8 GTF2IRD1 MT-ND5 CLPB PIK3CA EPRS1 SDHD FAN1 PLA2G6 FAS FGF12 TYROBP NUS1 SLC2A3 SYNE1 CACNA1A PIGY TANGO2 TREM2 IL12A PEX19 ETHE1 RFC2 SPTAN1 DMXL2 CLN5 GRIN2D PEX14 SGPL1 SLC9A6 SDHA GTF2I XPA BMPR1A ERCC3 GCDH SLC6A1 NUP214 AIFM1 CLTC IQSEC2 SUMF1 ARHGEF9 SIN3A TK2 GFAP IL10 CLIP2 IRX5 NECAP1 SZT2 NRXN1 PEX6 LYRM7 PIGP STAT4 ST3GAL5 IL23R TBCE AARS1 ERAP1 IBA57 SLC29A3 UBA5 HCN1 DNMT3A TMLHE VPS13A ARV1 PEX5 ACER3 MRPS34 PHACTR1 IFIH1 CARS2 YWHAG MSH6 WFS1 PMS1 SLC12A5 GNAO1 FOLR1 UGP2 PARS2 POC1A MLH1 IRF2BPL CIC PCDH19 CYP27A1 HLA-B KRAS PNKP KCNA2 GABRD DDB2 SYNGAP1 SON MT-ND4 GABRB2 AHCY KCNT2 DNAJC19 STX1B TBL2 NAXE MT-TL1 NDUFS1 KCNA1 MT-ND3 EIF2B1 RNASEH2C PEX3 MT-TK WDR45 MT-TW DEAF1 ERCC2 MT-ND6 FRRS1L RPS20 MT-ND2 NACC1 PIGT TCIRG1 NDUFAF3 RNASEH2A DHDDS GMPPA MT-TV FTL GABRA5 NEUROD2 PIGA TNFRSF11A C12orf65 PYCR2 GM2A ERCC4 LMBRD1 SLC25A42 NDUFS7 ADA2 SLC30A9 ERLIN2 PEX16 TRAPPC11 ASAH1 HP_HAND_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_TREMOR STUB1 PDK3 MARS1 MARCHF6 ADRA2B RAB3GAP2 NOP56 MFN2 TFG TSHR CNTN2 SMN1 ZFR SMN2 GCK SLC6A17 YEATS2 TAF1 CTNND2 C19orf12 DRD3 ERLIN2 ABCB6 FGF14 ANO3 ZFYVE26 SAMD12 HP_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASCICULATIONS TARDBP C9orf72 SLC52A2 SH3TC2 NEFH CHCHD10 SLC6A5 HNRNPA1 SPG11 GPHN ATXN3 SMN1 GRN SMN2 ATAD1 AIFM1 TBK1 LRSAM1 HINT1 ATXN2 VAPB CHMP2B VPS13D SCN4A PRPH VCP FUS BICD2 NOP56 ASAH1 TSPYL1 KIF1C ANO10 PSAP SOD1 HEXB SQSTM1 CEP126 MORC2 RYR1 AGTPBP1 ADPRS TBCD HSPB1 UCHL1 CPLANE1 KCNK9 MAPT ELOVL4 GLRB OPTN TMEM106B EXOSC9 VRK1 GLRA1 SLC52A3 PSEN1 PNPLA2 GLA ATXN1 AR EXOSC3 TREM2 TFG TOE1 SCO2 PFN1 FBXO38 SLC25A21 UBA1 RMND1 FXR1 HNRNPA2B1 DCTN1 SYNE1 HP_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APHASIA PLEC PSEN2 MT-ND6 EHMT1 SLC16A2 GRIN2A HNRNPA1 KRAS GRN ABCA7 APP FGFR1 TOMM40 PRNP HLA-DQB1 L1CAM VCP SORL1 TREM2 PSEN1 MT-CO3 TCF4 NOTCH3 C9orf72 MT-TF MAPT TMEM106B COX7B CKAP2L FA2H COL1A2 ADA2 MT-CO2 HCCS MT-TS2 CHMP2B COL1A1 MT-ND1 MT-ND4 ERLIN2 GJB1 SMARCA2 NDUFB11 MT-CO1 MT-TW ATP1A2 MT-TQ MT-ND5 ACTG1 ADAMTS2 MT-TL1 ACTB MT-TH HNRNPA2B1 AMER1 HP_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALITIS RFXANK IL23R IL12A PRF1 HLA-B XIAP ERAP1 BCL10 LBR BTK HYOU1 CCR1 RFX5 STAT1 KLRC4 TMEM70 RFXAP MEFV SH2D1A L2HGDH C4A IL12A-AS1 SLC6A19 UBAC2 TLR4 IRF3 IL10 ATRX CIITA FAS IKBKG STAT4 HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE GNB1 GABRA1 GAMT TANGO2 SCN2A TBK1 PCDH19 VPS11 GABRD TICAM1 DOCK7 STX1B STRADA SCN9A FIG4 TSC2 ARHGEF9 SCN1A PNPLA8 GABRG2 POGZ LGI1 ADGRV1 TSC1 CLCN4 NHLRC1 HCN1 CLN8 TLR3 TRAF3 MTOR ACSF3 CACNA1D EPM2A CRIPT RELN GAL ATXN10 STXBP1 SCN1B MICAL1 TBC1D24 FMN2 UNC93B1 HP_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPARESIS TRMT10A TARDBP MICOS13 COASY GALC AIMP1 CHCHD10 SDHAF1 TTC19 GOT2 C12orf65 GBA PRPS1 GJA1 SELENOI GJC2 SDHA SPART POLG AFG3L2 SLC30A10 IDUA SP110 HMBS MAG TREX1 PPP1R15B TBK1 BCOR RNASEH2C SPG7 MTPAP CLTC SOX10 FA2H SQSTM1 MED13L VCP PNP CCDC88C PEX16 FUS C19orf12 RNASEH2A TBCE WDR45 ATP13A2 NF1 GJB1 ADAR PLP1 RNASEH2B IFIH1 EDNRB TNFRSF11A SAMHD1 ATP6AP2 OPA3 SDHB C9orf72 ABCD1 SLC25A15 SDHD SLC19A3 CPT1C SPG21 ASAH1 HP_CAVUM_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVUM_SEPTUM_PELLUCIDUM RNF125 NSD1 FGFRL1 NKX2-1 PACS1 PIK3CA CTBP1 CPLX1 NSD2 RBM8A MUSK SPECC1L PCGF2 LETM1 TUBB2B MED25 PPP2R5D HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES MYO9A PIGY KCNQ3 PIGO VAMP1 COL13A1 JRK AGRN CILK1 CLCN2 SNAP25 EFHC1 PIGL CHAT GABRD SCARB2 SLC5A7 CSTB PIGW SYT2 PRICKLE1 PGAP3 SLC18A3 CACNB4 PSAT1 SLC25A1 PGAP2 GABRA1 PIGV GABRG2 HP_LOWER_LIMB_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERREFLEXIA DPM1 MECP2 KDM5C TH SDHAF1 PDE8B SACS TAF1 SELENOI CYP2U1 SDHA ARL6IP1 CAPN1 ALDH18A1 LARGE1 TREX1 ATP13A2 REEP1 SPG7 VCP AFG3L2 KIF5A PSEN1 MT-TE IFRD1 C19orf12 ST3GAL5 NIPA1 GCH1 SUMF1 ATL1 KY GJB1 KIF1C C12orf65 DKK1 USP8 KIF1A IBA57 LBR FARS2 PGM3 NONO SDHB SLC33A1 SDHD ZFYVE26 HP_COGWHEEL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGWHEEL_RIGIDITY GABRA1 CP PCDH19 KCNA4 POLG ATP6AP2 TWNK POLG2 TMEM240 KCND3 ADAR MT-ATP6 DAB1 SCN1A SCN9A RAB39B NUP62 STXBP1 TK2 SLC25A4 SCN2A GABRG2 SCN1B RRM2B MME HP_STROKE_LIKE_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE_LIKE_EPISODE MT-CO2 MT-TC MT-ND6 MT-CYB MT-ND5 MT-TS2 TTR MT-TQ MT-TK MT-TL1 MT-TV MT-ND1 MT-ND4 MT-CO1 MT-TF MT-CO3 MT-TW PRNP STIM1 PMM2 RFT1 MT-TH WFS1 DPM3 HP_POSITIVE_ROMBERG_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIVE_ROMBERG_SIGN TBP FLVCR1 TWNK POLR3A OPA3 PLD3 RFC1 XRCC1 POLG MFN2 RNF170 HP_LIMB_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSMETRIA PDGFRB RRM2B POLG PPP2R2B GRM1 GBA2 WASHC5 CYP7B1 PDGFB KCNC3 SLC20A2 RNASEH1 DAB1 HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION IL6 ENG ACVRL1 KRAS SMAD4 HP_AQUEDUCTAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AQUEDUCTAL_STENOSIS SF3B4 FGFR1 SEMA3E TP53RK SLC12A6 L1CAM WDR4 CHD7 TPRKB WDR73 LAGE3 NF1 NUP107 OSGEP FGFR2 NUP133 FANCB HP_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOKYMIA CACNA1G SPTBN2 GSN PPP2R2B ADCY5 HINT1 UCHL1 TBCK KCNQ2 KCNA1 MORC2 ATP13A2 PRKCG PNKD HP_LEUKODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKODYSTROPHY DARS2 NDUFS1 TACO1 AIMP1 NDUFAF6 LIPT1 NDUFAF5 TREX1 TUBB4A NKX6-2 PSAP NDUFB8 MT-ND2 POLR3B POLR3A NUBPL NDUFA12 NDUFS8 NADK2 NDUFV2 NDUFA13 MT-ND3 SURF1 ECHS1 NDUFS7 BOLA3 PLEKHG2 ISCA1 NDUFA6 ISCA2 TMEM106B IBA57 RNASEH2A NDUFS2 NDUFV1 ACER3 NDUFS3 TUFM PET100 ADAR IFIH1 NDUFAF2 NDUFS4 EDNRB SAMHD1 ABAT NDUFA1 GLRX5 PC PDHA1 PNPT1 NDUFA11 SCO2 NDUFB11 ACOX1 HIKESHI AIMP2 LMNB1 COX15 PEX1 NDUFAF1 FBXL4 TIMMDC1 GJC2 RARS1 NDUFAF8 NDUFB10 NDUFA10 SP110 RNASEH2C PYCR2 MTFMT SOX10 NDUFB3 ARSA PLP1 DAG1 PEX16 NDUFA2 NDUFS6 FA2H NDUFB9 FOXRED1 NDUFAF3 GTPBP3 POLR1C NDUFA4 MT-ND1 NDUFAF4 RNASEH2B SNORD118 SDHA NDUFA9 FAM126A EPRS1 HSPD1 LIAS TMEM126B CTC1 SLC19A3 SLC16A2 HP_SUBEPENDYMAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBEPENDYMAL_CYSTS TUBGCP2 D2HGDH TXN2 PDHX GLUL PEX1 HP_ABNORMALITY_OF_MIDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MIDBRAIN_MORPHOLOGY MAPT RPGRIP1L GALC CEP120 CEP104 TMEM216 TMEM231 INPP5E ATXN2 TMEM237 TMEM107 KIF7 TCTN3 KIAA0586 PIBF1 FAM149B1 ADH1C FBXO7 SNCAIP KIAA0753 CC2D2A C2CD3 OFD1 TMEM67 SNCA TBP PDE6D CPLANE1 ATXN8OS TMEM138 SUFU TCTN1 BRF1 CSPP1 CEP290 GBA TBCE GCH1 NPHP1 CEP41 AHI1 NR4A2 ATXN3 LRRK2 B9D1 WDR45 ARL13B C19orf12 MKS1 B9D2 ZNF423 ARMC9 GLUD2 PRKN SLC35A2 HP_MOLAR_TOOTH_SIGN_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLAR_TOOTH_SIGN_ON_MRI RPGRIP1L CEP120 CEP104 TMEM216 TMEM231 INPP5E TMEM237 TMEM107 KIF7 TCTN3 KIAA0586 PIBF1 FAM149B1 KIAA0753 CC2D2A C2CD3 OFD1 TMEM67 PDE6D CPLANE1 TMEM138 SUFU TCTN1 CSPP1 CEP290 NPHP1 CEP41 AHI1 B9D1 ARL13B MKS1 B9D2 ZNF423 ARMC9 HP_POOR_HEAD_CONTROL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_HEAD_CONTROL MYO9A GMPPB DNM1 RARS1 COL13A1 SNAP29 NDUFAF5 DMXL2 SDHAF1 VAMP1 AGRN GABRG2 SCN3A GRIN2D STXBP1 SLC13A5 SNAP25 SDHA NGLY1 MT-ND2 ACTL6B ALG2 DPAGT1 CLTC GM2A CNKSR2 TREX1 DPM2 MT-ND3 SLC1A2 PIEZO2 ATP6V1A NECAP1 BOLA3 PTS SZT2 NDUFA6 PIGP COG8 SLC18A2 SCN8A TPM2 CACNA1G AARS1 PNPT1 SYNJ1 UBA5 MYPN NDUFS2 ELP2 NDUFV1 WWOX ARV1 LGI4 TRAK1 GNAO1 NDUFS3 FKBP14 CDKL5 NDUFV2 TPM3 IREB2 NDUFS4 MEGF10 YWHAG SLC5A7 CLP1 NTRK2 SLC39A8 COLQ TTN NACC1 SCN2A NDUFA1 SDHB SLC25A1 PARS2 NDUFA11 EBF3 RARS2 GABRA2 LMNA NDUFB11 SLC25A22 NDUFS1 CASK POMK MDH2 PIGQ PNKP KCNA2 ASPA NDUFAF1 PPP3CA DHFR GABRB2 UFC1 TIMMDC1 AHCY NDUFAF8 NDUFB10 CACNA1B NDUFAF2 CHAT SIK1 SELENON ACTA1 GRIN2A PCLO NDUFA10 KCNA1 MYH7 SLC18A3 EXOSC9 NDUFB3 DAG1 PMPCB NDUFS6 NDUFB9 FOXRED1 FGF12 NDUFA13 DHDDS GEMIN4 HEXA EXOSC3 GPHN MT-ND1 PSAP CYFIP2 GALC NDUFAF4 GABRA5 NEUROD2 MPZ TRIM8 GFPT1 HCN1 SYT2 FARS2 LAMB2 AP3B2 EEF1A2 KCNB1 ARX NONO SCN1B SYNGAP1 NDUFS7 GABBR2 NDUFS8 SDHD ALG14 NDUFAF3 TRIP4 ALG13 TMEM126B NUS1 PHACTR1 CACNA1A NUBPL HP_LONG_TRACT_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TRACT_SIGNS APP A2M GTF2E2 HFE PLAU TNFRSF11A NOS3 APOE MPO HP_ANARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANARTHRIA ALS2 DNAJC6 SYNJ1 FA2H FTL TBCE PODXL ATP13A2 ALDH18A1 HP_MOTOR_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_APHASIA CHMP2B GRN C9orf72 TREM2 FA2H GJB1 MAPT VCP PSEN1 TMEM106B HP_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOCELE CCL2 FKTN RIPPLY2 BMPER PAX3 GLI3 NOTCH3 SC5D POMGNT1 WNT7A FRAS1 INPP5E FREM2 H19 HES7 SNRPB LFNG OFD1 VANGL1 B3GALNT2 ARVCF TBX1 KIAA0586 COMT PORCN POMT1 DACT1 KCNQ1OT1 TBXT CSPP1 CEP290 JMJD1C FKRP IGF2 LARGE1 SEC24C FUZ FLNA HIRA ZSWIM6 RREB1 POMT2 VANGL2 GMPPB GRIP1 GP1BB MESP2 UFD1 TMEM216 MSX2 DLL3 ALX4 HP_OCCIPITAL_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_MENINGOCELE SEC24C TBX1 JMJD1C UFD1 COMT HIRA INPP5E GP1BB RREB1 ARVCF WNT7A HP_CEREBELLAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_MALFORMATION SNX14 RD3 SLC39A14 TMEM231 LIMK1 HTT FRMD4A KCNJ13 POMT1 B4GAT1 ARID1B FGFR2 MYO5A GPC3 LARGE1 IFT140 ELN CC2D2A SACS CEP55 GMPPB ATR PORCN TMEM138 GNAQ PCYT1A SMO MPL RAB3GAP2 WDR35 ACY1 FKTN DHDDS SOX11 ATP2B3 AIPL1 NCAPG2 PLG ZSWIM6 PIEZO2 SRD5A3 B9D1 KIF1A HRAS HMGA2 DENND5A DLG4 SETBP1 SLC35A2 CACNA1G TFAP2A XRCC4 RPGRIP1 CEP120 INPP5E TCTN2 MAN2B1 GPC4 PIK3CA FKRP POMGNT1 SUFU NRAS C2CD3 SKI BUB3 OFD1 CEP290 RPGRIP1L ARL3 PSAT1 KIAA0586 RERE COG1 CRPPA MME KLHL7 FANCI ATXN1 FGFR1 TCTN1 BRF1 KRAS RAB18 PHGDH SLC18A3 IQCB1 TAF1 CRB1 TBC1D20 TMEM67 CPLANE1 IGF2 LEMD3 EBP AHI1 ARL13B TMEM216 ATXN8OS RDH12 ASXL3 MAF CEP104 GTF2IRD1 CSPP1 TMEM237 RBM10 MRE11 RAC1 CEP57 RFC2 INPP5K SIL1 NOTCH3 TUBA1A FAR1 LCA5 FOXC1 B4GALT1 TONSL DNMT3A ARMC9 CACNA2D2 CLIP2 POR POMT2 WDPCP POMK OPHN1 DOK7 TULP1 VANGL1 GRIA3 ERF TSEN54 DCHS1 NOP56 PCGF2 ATP6V0A2 CEP41 TBCK TGFBR2 DKK1 STXBP1 NPHP1 RXYLT1 TRRAP RAB11B NFIA WDR34 FGFR3 ITPR1 BUB1B TBC1D24 TMCO1 SOX4 MT-CYB MKS1 FLVCR2 SLC25A24 ALX4 FAT4 KCNQ1OT1 GUCY2D ARID1A DYNC2H1 SMARCE1 TRPC3 POLR3A CEP164 NEK1 FA2H BUB1 CDKN1C DAG1 RFWD3 PIGN TSEN34 PIBF1 AHDC1 USP9X ARID2 CDC45 SPECC1L CCDC22 KCNQ1 BMP4 KIAA0556 GJB1 TMEM107 FTO QARS1 DOCK6 EVC2 PMM2 CWF19L1 SON ZIC1 PDE6D LRAT NUP88 USP45 PAX2 RAB3GAP1 NPHP3 GRM1 TUBB SMARCC2 SC5D IFT172 TCTN3 IFT80 PPP1CB SMARCD1 SMG9 SETD2 RNU4ATAC KIF7 TUBB3 CHD4 MEF2C POMGNT2 INTS1 LAMA1 SEMA3E GRID2 PIK3R5 CHD7 TRIP13 WASHC5 PRKDC RPE65 NID1 FUZ ASXL1 STAT3 MLXIPL WDR60 SMARCB1 DAB1 WDR81 SALL1 NUP37 PRKCG GLI3 EXOSC3 BAZ1B CENPF SMARCA4 NONO MVK PUM1 ZNF423 DPF2 RAPSN SPATA7 CUL4B NOTCH2 DACT1 ATP6V1A ATN1 COL3A1 FAM149B1 GDF6 GTF2I LMX1B FLI1 IMPDH1 EPG5 HYLS1 PGAP1 DHCR7 RNF113A B9D2 COL4A1 PTCH1 B3GALNT2 CDC42 KIAA0753 DPH1 SCYL1 L1CAM TRAPPC9 CACNA1A TBL1XR1 PACS1 CHP1 GOT2 MYOD1 NMNAT1 TBL2 SIK3 PEX16 TMEM240 ATP6V1E1 RNU12 MUSK FBN1 TGFBR1 SLC25A19 TDP1 EVC MAB21L1 CRX EXOSC8 WDR73 AP1S2 SETX HP_DYSCALCULIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCALCULIA TARDBP C9orf72 SRY TBK1 CACNA1A SQSTM1 VCP CHCHD10 PNKP HNRNPA1 TMEM106B TREM2 CHMP2B PSEN1 MAPT HNRNPA2B1 GRN FUS HP_HYPOTHALAMIC_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HAMARTOMA TMEM216 SOX2 OFD1 GLI3 KIF7 SMO KIAA0753 SIX6 FAM149B1 CPLANE1 TCTN3 PDE6D HP_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA RANBP2 STAR MRAP PNKP DPYD PRF1 KCNJ18 PRPS1 ALS2 KRAS ARSA FGFR1 ALDH18A1 TFG GALC NNT CACNA1S TXNRD2 BCAP31 ARX TRAPPC2L AIFM1 ATP1A3 NADK2 NHLRC2 MC2R TBCD ATP1A2 KCNT1 GABRA3 HP_ASTROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOSIS C9orf72 TREM2 CHMP2B ADAR STRADA MAPT VCP MTOR GRN TMEM106B MT-ATP6 NUP62 SQSTM1 TSC2 PRNP POLG SLC30A10 PSEN1 LAMA2 TSC1 HP_PROGRESSIVE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_ENCEPHALOPATHY CHEK2 TP53 TH CDKN2A TBCE NADK2 TREX1 MDM2 HTRA1 WDR45 BSCL2 SUCLA2 HP_LIMB_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSTONIA ARX TH COL4A1 SLC18A2 GNAL GCH1 PNPT1 BSCL2 PARK7 THAP1 MAPT PRKRA CYB5R3 JAM2 VPS37A ATP1A3 CYB5A COL6A3 SLC6A3 TUBB4A TAF1 PANK2 VPS13C SPATA5 CKAP2L ANO3 DDC AFG3L2 HPCA HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY PANK2 NDUFAF3 FA2H SURF1 CYP2U1 KCNQ2 COASY NDUFB8 C19orf12 SLC30A10 MMUT SCO2 NDUFS2 HP_ABNORMAL_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEAD_MOVEMENTS GAMT NAA10 MAPT GPR88 UCHL1 CACNA1H NKX6-2 GABRG2 PRNP GJC2 CACNA1A KIF1C HIBCH LAMA1 PIGT SLC2A1 PEX10 VAMP1 DLAT JRK GABRB3 GABRA1 PLP1 FMR1 HP_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_MUSCLE_WEAKNESS GMPPB DYNC1H1 SH3TC2 CHCHD10 PNKP VAMP1 HNRNPA1 AARS1 TTN PMP22 TRPV4 PLEKHG5 GDAP1 LMNA TIA1 ALG2 POLG KLHL9 NEFL PNPLA6 BSCL2 LRSAM1 NEB EGR2 RELA HADHA VPS13D NAGA FUS MYOT TYMP CAV3 MPZ MATR3 C19orf12 MFN2 TPM3 HSPB3 VAPB RRM2B AIFM1 DCAF8 ATXN3 SLC5A7 COLQ GARS1 XRCC1 DNM2 MPV17 TNPO3 COL6A2 RAB7A GAN HK1 TRMT10A ELOVL5 FIG4 TCAP COL13A1 PTRH2 PABPN1 DYSF AFG3L2 GYG1 SARDH DES MYH14 LRP12 GNE DCTN1 MORC2 SQSTM1 MYH7 MME MAP3K20 PNPLA2 BIN1 IGHMBP2 RYR1 RAI1 RFC1 COA7 GCH1 SETX FLNC GJB1 MTMR2 BICD2 ACTA1 PLEC DGUOK ADSS1 JPH1 PRPS1 COL6A3 ALG14 HNRNPA2B1 CPT1C C9orf72 HSPB1 REEP1 TARDBP DARS2 MYO9A MED25 CRYAB ANO5 C12orf65 AGRN SPG11 GTPBP2 SNAP25 FGD4 HARS1 VCP DPAGT1 PPP1R15B TBK1 EXTL3 TK2 GRIA3 INF2 YARS1 SCYL1 VPS13A DMPK IBA57 LDB3 NDRG1 SLC25A1 DHH MYH2 MAPT MT-ATP6 CHP1 SPTLC2 COL6A1 SACS ATP7A LITAF KIF1B HSPB8 C11orf95 CHAT HINT1 ABCA1 ANG SLC18A3 SYT2 SBF2 SOX10 SIGMAR1 PRX ATL1 FBLN5 GFPT1 FLVCR1 TDP1 HADHB LAMB2 SLC25A21 HP_LANGUAGE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LANGUAGE_IMPAIRMENT PSEN2 SH2B1 HNRNPA1 MAPT SQSTM1 ABCA7 APP PRPS1 SYNGAP1 TOMM40 PSEN1 VCP SORL1 TREM2 GRN C9orf72 MBD5 GATAD2B FLCN LHX1 CRKL STAT4 MAPK1 PRKAR1B TBK1 FTL CHMP2B TBC1D24 ERLIN2 BCR SPP1 TMEM106B CPLX1 HNF1B GJB1 TM4SF20 ADGRG1 IRAK1 ACSL4 CNTNAP2 HNRNPA2B1 ADNP HP_SPASTIC_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DYSARTHRIA ALS2 MAPT ALDH18A1 MARS2 GBA2 SLC52A2 RAB3GAP2 AP4E1 AP4B1 ATP2B3 AFG3L2 GJB1 PEX6 MAG AP4M1 POLR3A SPART GLRX5 TDP1 ATXN8OS VAMP1 SPG7 PRNP ERLIN2 SYNE1 AP4S1 HP_POOR_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SPEECH C9orf72 VPS11 PIGH CLCN4 RTTN LMAN2L TSC2 KCNAB2 CRADD NGLY1 FTSJ1 HEPHL1 NUBPL SASS6 CSF1R PLPBP UPF3B LINS1 WIPI2 MED13L MED25 SMC1A MAPT TUBB3 RAB39B HCFC1 PRDM16 CLIC2 CHMP1A COG8 ARHGEF6 ADD3 PIGC CXorf56 KANSL1 LAS1L SLC45A1 ZNF148 AP4M1 CAD UBE2A TELO2 MTHFS SLC39A8 KCNK4 WDR45 ARX TAF2 FMN2 IL1RAPL1 EGF ZC3H14 CLIP1 SMARCA2 ADPRS ALG9 KAT6A TRMT10A POMK GATAD2B CTNNB1 GPR88 HDAC8 RERE DCPS NRXN1 GPAA1 GJC2 FKRP SARDH UNC80 NALCN CNKSR2 PAK1 FBXO31 DAG1 RPS6KA3 MID2 UQCC2 SARS1 SLC39A14 BRF1 MBOAT7 TRAPPC9 SKI ATP6V0A2 CC2D1A TREM2 MED23 GMPPB EXT2 PUS3 FBXL3 TSPAN7 HS6ST2 TRAPPC11 MECP2 SLC19A3 C12orf4 FOXP2 ATAD3A HNRNPK NONO EZR VCP NAGS FGF12 VLDLR PTCHD1 ACSL4 GAMT NSUN2 ATP6V1B2 TNIK ATP6V1A TUBB4A GRIK2 PPP2R5D GRN SMC3 USP27X PPP1R15B KIF4A APC2 SOBP KIF14 KIF15 GNPTAB FRMD4A NDUFA6 AP4S1 CDC42 FRRS1L TRMT5 TAF6 PRSS12 ALG13 AP4B1 KDM5B AGTR2 RLIM CHKB TBCK IQSEC2 POMT2 SYT1 PAK3 PGAP1 SQSTM1 RAC1 TRRAP DIAPH1 MAN1B1 RSRC1 ZNF41 ST3GAL3 IQSEC1 CNTNAP2 CIC FRMPD4 SLC35A1 CNNM2 ZNF711 TRIO KCNMA1 B3GALNT2 NDST1 SET DOCK7 ASPA DLG3 AP4E1 PPP2R1A HNMT GATA4 SYP TSC1 METTL23 WASHC4 NDUFS1 SLC6A17 GDI1 DMD TMEM106B SLC9A7 CHSY1 GABRD TUSC3 ADK TBCD PSEN1 FOXRED1 AIMP1 AP1S2 ATP6V1E1 NDUFA13 EDC3 CRBN CCDC22 CHMP2B GRID2 EIF2S3 TECR PYCR2 USP9X POMT1 RNASET2 DLAT MRPS2 MED12 MTO1 SNAP25 WDR73 GUSB ZNF81 LARGE1 HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA CWF19L1 DNAJC19 FRMD4A ITPR1 CAMTA1 ATCAY ATP2B3 NADK2 ABCB7 HP_SMALL_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_CEREBRAL_CORTEX ZNF335 CDK5RAP2 CDK13 TCF4 ASPM MCPH1 KIF14 CENPJ HP_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXPRESSIVE_LANGUAGE_DELAY GNB1 NSD1 SRCAP GRIA3 AHDC1 SDHAF1 GNE TAF1 ARID1B SDHA PUF60 FOXP1 RAI1 ACADL FOXP2 GNPTAB FLCN HERC1 SDHB SPATA5 RSPRY1 POGZ SDHD TUBB3 HP_MYELOMENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOMENINGOCELE CCL2 KCNQ1OT1 TBXT FRAS1 VANGL1 BMPER PAX3 SNRPB VANGL2 GLI3 OFD1 IGF2 GRIP1 HES7 FUZ SC5D MSX2 FLNA PORCN ALX4 FREM2 H19 DACT1 HP_PRIMITIVE_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_REFLEX TYROBP DNMT1 PIEZO2 CTSF GM2A HADHB GLRB MAPT DPM2 NGLY1 HADHA JPH3 PSEN1 ERLIN2 SPG21 TUBB3 ALDH18A1 ST3GAL3 HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA ACP5 PSAP FA2H GM2A PLP1 ARG1 ATP13A2 NADK2 PLAA ARSA HP_HEPATIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_ENCEPHALOPATHY NBAS SLC25A13 SH2D1A DLD XIAP PCK1 HP_BULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_SIGNS ACTA1 GSN GBA MATR3 PLAA ARSA MT-TV NEB MYPN PSAP SPG11 MT-ND4 KLHL41 FIG4 MT-TL1 MT-ATP6 MT-ND1 MT-ND3 KBTBD13 TPM3 REEP1 MT-TK TPM2 MT-TW GFAP CHMP2B MT-ND5 MT-ND6 MT-ND2 ATXN1 SLC39A14 RYR1 HP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOTONIA LIFR SCN4A DMPK CAV3 ANO5 HSPG2 UCHL1 SGCG CAVIN1 CLCN1 KCNA1 TTI2 HINT1 EMD ACTA1 FHL1 DNAJB6 LMNA PRPS1 TMEM43 PFKM CNBP VMA21 CACNA1A SYNE2 SYNE1 HP_HYPERKINETIC_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKINETIC_MOVEMENTS NEUROD2 GNE RTTN SUCLA2 NGLY1 GCH1 PDE10A SLC9A6 GNAO1 SYT1 ZNF142 PSAP TRAPPC11 CACNA1B IQSEC2 ALDH5A1 GRIN1 THOC2 SLC6A3 PYCR2 PNKD PRRT2 CACNA1E FRRS1L PTS YME1L1 HP_ACUTE_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LEUKEMIA TREM2 CBL CEP57 PICALM ATRX TERT RPS15A RPS24 GATA1 STS ELANE WIPF1 JAK2 SRP54 LIG4 GATA2 XRCC4 TET2 NPM1 RARA SH3GL1 RPL5 ERBB3 PIGL ETV6 THPO DYNC2LI1 RPS26 GFI1 WAS RPL18 SH2B3 ABL1 LPP SRSF2 TP53 DNMT3A DNAJC21 RPS27 RPS7 RPL26 RPS29 ASXL1 CEBPA TSR2 RUNX1 DKC1 NUP214 GLI1 EVC NSUN2 TRIP13 SBDS RPS10 MPL BUB1B FLT3 CALR SAMD9L BCR TCIRG1 ADA2 KIT RPS17 NBN NUMA1 SMPD1 RPL35 BUB3 SF3B1 RPS28 DDX41 RPL35A BAX BUB1 RPL11 CHIC2 BLM RPL31 MLLT10 RPL15 KRAS TAL2 EVC2 RPS14 RPS19 CBFB RPL27 BRCA2 GNB1 TAL1 PIGA TYROBP EFL1 HP_INCREASED_CSF_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CSF_LACTATE DARS2 NDUFS1 TACO1 SCO1 NDUFAF6 LIPT1 NDUFAF5 COX6B1 NDUFB8 NARS2 SLC13A3 SURF1 MT-ND2 COX14 AIFM1 NDUFA12 NDUFS8 MT-TF NDUFV2 ECHS1 SLC25A19 NDUFA13 MT-ND3 SDHA TXN2 NDUFS7 PET100 NDUFA6 MPV17 COA3 PNPT1 NDUFS2 NDUFV1 MT-ND1 MT-ND4 COX15 NDUFS3 MRPS34 NDUFAF2 NDUFS4 MT-CO1 SLC39A8 COX10 MT-TW MT-TQ MT-ND5 NDUFA1 PDHA1 NDUFA11 SCO2 RARS2 NDUFB11 HTRA2 MT-ND6 MDH2 TRAPPC12 MECP2 NDUFAF1 COA8 GFM1 TIMMDC1 NDUFAF8 NDUFB10 COQ8A NAXE MT-CO3 NDUFA10 MT-TL1 MT-ATP6 COX8A MT-TK GFM2 MTFMT BCS1L NDUFB3 NDUFA2 NDUFS6 NDUFB9 MT-CO2 FOXRED1 LRPPRC NDUFAF3 COX20 MT-TS2 NDUFA4 MT-TV NDUFAF4 C12orf65 MT-TN NDUFA9 TRMT10C RMND1 MT-TH TMEM126B SLC19A3 NUBPL HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT TARDBP IQSEC2 GALC LIMK1 NEFH RFC2 CHCHD10 MT-ATP6 BAZ1B DNAL4 NIPA1 DCC SPG7 NTN1 SPG11 GTF2I PLP1 RAD51 ATL1 SOD1 TBL2 TBK1 ELN L1CAM WASHC5 ALS2 DEAF1 RTN2 SPAST GTF2IRD1 CLIP2 SQSTM1 VCP PRPH SLC33A1 CPT1C RAI1 FUS C9orf72 DCTN1 FLII HP_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_MOTOR_NEURON_DYSFUNCTION VPS11 SLC1A4 HEPACAM SLC12A6 GLRA1 MICOS13 SYNJ1 KCNAB2 ARHGAP31 MT-CO1 XPA RAB3GAP1 RNASEH2C EPCAM CLP1 ATP1A3 MAG PLPBP CC2D2A ECHS1 COASY SLC2A1 NDUFS7 NDUFV2 WASHC5 UCHL1 PCYT1A SLC13A5 CHMP1A SCN8A CACNA1G ARHGEF6 TERT RAB3GAP2 CCR1 WWOX MT-ATP8 MT-TL1 RAD50 AUH CNPY3 NUP133 IREB2 ANOS1 KIF1A NUP62 SIGMAR1 ARX DNMT1 ERCC3 HLA-DQB1 GAN TTPA NT5C2 NEK1 PNPLA6 RPIA ZC3H14 ATP6AP2 SCN1A COQ2 BCOR REEP1 PHYH MECP2 OCLN C9orf72 KCNC3 POMGNT1 UNC13A ALDH18A1 SARDH TREX1 SERAC1 DDX3X NALCN VPS13C ATRX H1-4 ARSA SQSTM1 PLP1 FA2H PEX7 BRF1 MTPAP NDUFV1 DDHD2 FAR1 RFC1 RAB18 PHGDH WDR45B FLRT3 IQCB1 TBC1D20 ROGDI MAPT TOE1 JAM2 USP8 SDHA EBP ATXN8OS NEXMIF EEF1A2 CLPB DDC ZFYVE26 HNRNPA2B1 CTC1 SLC2A3 HACE1 TARDBP NDUFS2 RARS1 PLA2G6 TTC19 ALS2 SPG11 KIF2A DCC MT-TW AIFM1 CLTC ALG13 BAP1 B3GALNT2 TSC2 EXTL3 SPG7 FRMD4A HESX1 KLC2 PIGP ZFYVE27 C19orf12 IL23R TULP1 TSEN54 FRRS1L UBA5 ATP13A2 NOP56 L1CAM PDHX ERLIN2 BTD ADAR MRPS34 RBM28 IQSEC2 IFIH1 CARS2 SOX10 PGAP1 MLC1 MSH6 CFHR1 ERCC2 OTUD6B TPK1 ATP1A2 OPA3 UGP2 PARS2 IQSEC1 IRAK1 EZH2 MT-ND6 VPS53 RRM2B GALC TRAPPC12 ASPA HMGCL APP ATXN7 SPART HINT1 GUCY2D TANGO2 KCNA1 SNCA MTFMT MEOX1 NAA10 BDNF HUWE1 BRAT1 PIGT NDUFAF3 NIPA1 FTL GDAP2 CYB5R3 GJB1 NUS1 BCL11B MMUT ERCC4 MT-TF L2HGDH PEX10 NR2F1 RTN2 CWF19L1 MED12 ASAH1 ERLIN1 DNM1 SOX4 ASNS EIF2B3 CHCHD10 GRM1 RTTN DAO STXBP1 GBA2 CHMP2B EIF2AK3 PRICKLE1 PMS2 MAPK8IP3 BEAN1 POLA1 UBTF RPS6KA3 ZNF335 ISCA1 GCDH SPATA5 TUBB3 FUS PRDM16 MRPS22 B4GALNT1 PPP2R2B IBA57 COG4 AP4M1 PODXL LBR GLE1 TUBGCP4 SCN2A ABCD1 PEX3 NAGA HTRA2 TRMT10A CACNA1A RPE65 GLRB MT-CYB MAN2B1 PPT1 TARS2 COQ8A SP110 VPS37A CNTNAP1 TPI1 CNKSR2 PDYN DDHD1 ERCC5 COX10 FBXO7 ADAT3 SEMA4A ATP6V0A2 KYNU COG2 SETX CYFIP2 EIF2B5 PRDM8 BCKDHA SOX2 ATXN3 TRAF7 TRAPPC2L PCYT2 C12orf4 GMPPB EARS2 RHOBTB2 PIK3CA EPRS1 MIPEP ERCC1 CPT1C ENTPD1 RNF170 GLYCTK BSCL2 PTCHD1 ACSL4 TACO1 PINK1 SLC6A8 HLCS IDUA GBA ERCC6 ALG3 VAMP1 BMPR1A POLR3B VWA3B RTEL1 TBK1 MECR FMN2 APC MT-TP POLG WDR26 ERGIC1 BRAF CACNA1E PTS SLC33A1 STAT4 AP4S1 TMEM106B TBCE CBS FIG4 DKC1 RLIM KIF1C PAK3 SLC25A15 CNTNAP2 MLH1 RPGRIP1L SETD5 HIKESHI KCNA4 PRPS1 ENG KIF11 SACS NMNAT1 MT-ND4 MGAT2 SLC20A2 KDM5C FLRT1 DHCR24 DMD VCP TBC1D24 TRAPPC4 RNASEH2A NDUFA13 KCNQ3 POLR1C MT-TV PSAP C12orf65 SLC25A19 ARL6IP1 SMARCE1 TMX2 CACNA1D ANKLE2 GM2A TDP1 SCN3A CRX SLC6A3 EXOSC8 RNASET2 MCCC2 GBE1 SLC30A9 CLIC2 CFHR3 OSGEP SNX14 PFN1 LRP4 NDUFS1 LIMK1 LIPT1 SOX3 MARS2 SUCLA2 EIF2B4 NARS2 SURF1 TREM2 NOTCH3 SLC6A9 SPTAN1 NUBPL TPP1 ELN NDUFS8 NADK2 GSS AARS2 PPARGC1A ADA2 MT-TC KMT2B BICD2 DPYD WDR4 ADD3 ELP2 ALG11 ZNF592 TRAK1 XPC PPP3CA AIPL1 AP4E1 MT-TQ MORC2 IL1RAPL1 RARS2 GABRA2 TBCD OPTN DOCK6 ZC4H2 GCH1 UFC1 UBAP1 DNAJC6 NTNG2 DLL4 MBOAT7 RERE HNRNPH2 TBP GAMT CCDC141 TSPAN7 SPP1 STAMBP HLA-DPB1 TNFRSF11A GLRX5 PRRT2 DHDDS RDH12 FARS2 ASXL3 TECPR2 MT-TH NAGS PEX11B CEP290 DARS2 RNF216 GPT2 IL12A AP5Z1 PRF1 DMXL2 INPP5K SLC6A5 TUBA1A GTPBP2 PEX12 MOCS2 GRN GABRB2 STN1 ARNT2 NDUFAF5 NDUFA12 FRMPD4 ATXN2 NECAP1 SCN4A ISCA2 POMK FUCA1 NEFH PDGFRB SLC25A46 ENPP1 PRSS12 GUF1 SCYL1 AP4B1 SOD1 SLC39A14 SLC12A5 DNM1L RAB11B RSRC1 ARSI ST3GAL3 PRTN3 EMC1 TOR1A KCNA2 TARS1 ZNF711 COX15 TCTN2 PRNP TUBGCP6 NDE1 FGF17 GDI1 ARG1 CDKL5 AP1S2 ABCC6 MT-CO2 DNAJC12 RAB27A GPHN HPRT1 ATL1 KCNQ2 IARS1 PCBD1 EPHA4 SNORD118 PYCR2 ARFGEF2 SON MFSD2A FKRP RASA1 OPA1 USP45 DNAJC3 ADCY5 NDUFAF6 HNRNPA1 ATP6V1A SLC1A3 RANBP2 FGFR1 CRADD ACTL6B GDF6 FTSJ1 CSF1R LINS1 HADHA SAMD9 DBT WDR11 HSPG2 RFT1 PANK2 HTT GNAO1 CXorf56 AUTS2 TUFM CTDP1 WARS2 ALDH3A2 EDNRB NTRK2 PIK3R5 ITM2B MT-CO3 DOCK8 MATR3 ERF MT-TI PITX3 CTNNB1 NIPBL DCPS HTRA1 RUSC2 GRIN2A PIGC GABBR2 PIGA ACP5 TPRKB CYP7B1 POLR3A TTBK2 SPG21 PMPCB CCT5 GAD1 PARK7 AMPD2 NOTCH2NLC PROKR2 DPYS TRIM8 MYO5A TXNRD2 REPS1 SLC19A3 PNPO FAN1 PUM1 NDUFAF4 SAMHD1 SYNE1 TYROBP NSUN2 AIMP1 TWNK TTR SORL1 LMX1B CACNA1S PSPH GJC2 USP27X PPP1R15B MC2R ARHGEF9 DHCR7 ATAD1 OPHN1 PMPCA GFAP SPTBN2 PSEN1 PCDH12 ADGRG1 GNB1 LARGE1 ACER3 PRPH TGM6 NNT PQBP1 FOXG1 HEXB GRIA4 CTSF ATXN10 KDM1A CRLF1 WDR73 PLCB1 MPDU1 TP53 TP53RK KRAS GOT2 MT-ND5 SPAST NDUFS3 VAPB METTL23 HMBS LMNB1 MT-TE PEX16 STUB1 ACTA1 FXN ANGPTL6 CHD7 PSAT1 WASHC4 ARF1 USP9X MRE11 EED MT-TK GABRA3 CAMTA1 GLB1 CLCN4 LMAN2L NKX6-2 KCNJ13 TOMM40 B4GAT1 REEP2 MEFV OSTM1 CTLA4 NEFL OGDH PON1 ADSL BOLA3 SLC1A2 MED25 TSC1 MTRR HLA-DRB1 DHPS MLH3 ATP2B3 MSH2 EXT1 NCAPG2 ATP7A CFH COL3A1 MTHFS PAFAH1B1 WDR45 GJA1 AKT1 SDHB DYNC1I2 RNF113A SETBP1 ANK3 SLC35A2 PIGQ GATAD2B PCCA NUP107 CACNA1B KIF5A TIMM50 PAX3 AGA SEPSECS RAD21 C4A CASK EXOSC9 COL4A2 BCS1L DSTYK LAMB1 TPP2 TRAPPC9 PNKP COPB2 ERBB4 TAF1 CRB1 KISS1R MED23 NTNG1 ABHD12 BCAP31 ZSWIM6 SUFU FAM126A ATAD3A KCNB1 ACAT1 ABCA1 GTF2IRD1 TUBB2B SDHD LIAS NF2 FAS NPC1 WT1 CCNF DPM3 ETHE1 TUBB4A SMO SELENOI MACF1 RNF13 GRIN2B POMT1 CYP2U1 CLIP2 SIL1 PLAA ERAP1 TRMT5 TAF2 KDM5B NOTCH1 PEX19 DKK1 PMS1 ATN1 MAN1B1 ZNF41 IRF2BPL HLA-B EEF2 SIX6 DDB2 PRKRA SYP NDUFA10 MT-ND3 EIF2B1 KIDINS220 SLC9A7 ELOVL4 RPS20 KMT2A FGF12 CCDC88C NDUFA4 TIMM8A CRBN PAH EIF2S3 ABCC8 SCN1B EYA1 LYST AMACR HDAC8 MTO1 HSPD1 TRIT1 MT-ND1 DCTN1 ALAD BCKDHB NDUFB8 GRIN1 PTEN B3GALT6 HCFC1 KCNT1 SLC18A2 VAC14 NCAPD3 MFN2 HS6ST1 SLC6A19 SLC45A1 LAGE3 NACC1 DCX ADPRS FKTN PDCD1 LRRK2 RNASEH2B GJB2 NFASC IKBKG TGFBR2 AFG3L2 SLC30A10 MED17 PEX6 NHLRC2 SPR SDHAF1 ANXA11 HEXA WDR48 POLG2 BAZ1B MT-TS2 NDUFS4 CAPN1 COA8 GRIN2D THSD1 TNIK ACP2 TACR3 RNU4ATAC NDUFA6 ATM RETREG1 SLC52A2 RPGRIP1 AAAS KANK1 TSEN15 SMARCB1 DUSP6 PDHA1 JAM3 MT-ATP6 CHP1 NDST1 NSMF ABCA7 NDUFA9 EOGT DLD GABRD COLGALT1 SLC25A22 ATP6V1E1 MARS1 SUMF1 APOA1 GABRA5 DPAGT1 PARN ATXN1 MTOR POMT2 MCOLN1 AARS1 TBL1XR1 FEZF1 ZNF81 PHACTR1 SLC16A2 RD3 TMEM231 MPLKIP SUOX IFT140 IL12A-AS1 PNPLA8 PCCB ADAM22 MED13L PNP RAB39B FGF8 LIMS2 PNPT1 CP UFM1 PET100 KLRC4 SLC17A5 NDUFAF2 TELO2 EML1 HSD17B10 DENND5A SCO2 PLK4 CLIP1 PSEN2 TMTC3 MRAP TLR3 TSEN2 CAMK2A LIPT2 UNC80 PEX1 PIGN FBXO31 GFM2 MID2 CKAP2L PRUNE1 SKI COL4A1 RBPJ FOXRED1 UBQLN2 KY NF1 TFG QDPR COQ9 SMC1A TBC1D23 STAR PEX5 RFC2 GABRG2 MCCC1 LCA5 MYORG FOXP1 RNASEH1 ACOX1 TXN2 SZT2 LYRM7 FBLN1 TCF20 GRIA3 WDR62 EPM2A YWHAG PAX1 ACD SMPD1 MFF CFAP410 TUSC3 KCNJ6 CPT1A NDUFA2 TMEM67 KCNJ18 EDC3 GNAQ NEUROD2 FTO HCN1 SPRY4 HADHB SLC25A12 SLC25A4 SYNGAP1 LRAT ABCB7 CTSD PDGFB CTNNA2 TGFBR3 PON2 UPF3B ARV1 VPS13D CLCF1 GTF2H5 CAV1 PEX26 HSD17B4 TUBG1 ZFR GDF3 IL17RD ADNP CNOT1 PON3 SMC3 GTF2E2 AGTPBP1 LINGO1 MDH2 NPC2 GPAA1 GLT8D1 KIF5C CYP27A1 PCLO CYB5A PEX13 UGDH UBAC2 EXT2 SARS1 EXOSC3 CC2D1A VHL GJB6 TAF15 NDP EIF2B2 MOCS1 NPHP3 PEX2 HLA-DPA1 AP3B2 TLR4 EZR KATNB1 SPATA7 GRIK2 GTF2I IMPDH1 DEGS1 FLNA NUP214 DNASE1L3 THOC2 IL10 CYP26C1 NHLRC1 TINF2 AGTR2 PAX6 PTPN22 DARS1 SCYL2 NSD1 PROK2 PRKN SAMD9L TH DLG3 GFM1 HNMT GUCY1A1 ANG DNAJC19 SIK1 TBL2 NAXE OTX2 PEX14 SUZ12 TUBGCP2 MT-ND2 SEMA3A DYNC1H1 GRID2 TECR CIT FDX2 HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP HCRT COQ2 MEN1 TNFSF4 ZNF365 HLA-DRB1 DMPK MOG HLA-DQB1 CTSH P2RY11 HP_IMPAIRED_VIBRATORY_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATORY_SENSATION BSCL2 PDK3 DARS2 POLG TPP1 ATXN3 B4GALNT1 GBA2 REEP2 DDHD1 SAR1B HARS1 PRKCG VCP KLHL9 SPTBN2 POLR3A BEAN1 MAG LRSAM1 SPG7 SACS HSPD1 ATXN2 PDYN WASHC5 SLC33A1 KLC2 SLC25A15 C19orf12 NEFH SLC52A2 MFN2 SPG11 DCAF8 ALDH18A1 SPART VAMP1 SPAST ABCD1 ARSI SAMD9L CACNA1G GARS1 HK1 MT-ATP6 HINT1 FLRT1 KIF5A PEX6 KCNC3 VPS37A FMR1 PLEKHG4 SETX CYP7B1 MORC2 MT-TE FGF14 RTN2 NIPA1 TWNK WDR48 GCH1 FXN KCND3 ATL1 ATXN1 FLVCR1 TDP1 ATXN8OS SCO2 ZFYVE26 CPT1C REEP1 HP_SPASTIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_ATAXIA MTPAP DARS2 PRDM8 TBCE MARS2 MMADHC VAMP1 CACNA1G GLRX5 SACS KIF1C AFG3L2 TUBB3 HP_SPINOCEREBELLAR_TRACT_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINOCEREBELLAR_TRACT_DEGENERATION GJB1 GCLC ATXN3 MAN2B1 ATXN1 TDP1 PLP1 ATXN2 HP_PROGRESSIVE_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_INABILITY_TO_WALK CRPPA DARS2 RRM2B MAPT AP4S1 HK1 ALDH18A1 SDHAF1 SUCLA2 VAC14 ADAR GDAP1 MFN2 TK2 GMPPB SLC9A6 GALC SDHA FKRP HINT1 RNASEH1 MT-ATP6 PLEC KLHL9 POMT2 REPS1 DNAJB6 LRP5 DES ERBB4 NUP62 GLRX5 POMT1 TWNK FAM126A BVES FARS2 CLN3 DYSF CRAT SDHB FA2H SDHD SLC39A14 MYOT LARGE1 HP_DIFFUSE_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBRAL_ATROPHY CASK PIGQ RARS1 TBCD PNKP ATP13A2 COG2 DMXL2 PSAP GALC NEUROD2 STXBP1 TRIM8 SIK1 MED17 TBP CARS2 GRIN2A FARS2 CTSF KCNA1 FMR1 ATP6AP2 BTD ARX GNAO1 GLB1 SCN2A CDKL5 TBC1D24 SCN1B COG5 PRKAR1B SLC25A22 PIGP HP_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_HYPERTONIA GNB1 DNM1 RARS1 ADCY5 SDHAF1 GABRG2 SCN3A GRIN2D SLC13A5 SDHA ACTL6B ALG11 CLTC CNKSR2 SPG7 SLC1A2 PCCB ATP6V1A NECAP1 SPR FRMD4A EMC1 SZT2 SLC33A1 SPATA5 SLC25A19 SCN8A MTRR AARS1 PNPT1 SYNJ1 UBA5 WWOX NCAPD3 ARV1 DHPS ERLIN2 TRAK1 WARS2 SLC6A3 YWHAG NTRK2 LBR KDM1A SDHB PARS2 ARSI GABRA2 PIGP KDM5C KCNA2 PRPS1 TSEN2 PCCA PPP3CA GCH1 NDUFA9 GABRB2 CACNA1B TARS2 VPS37A KIDINS220 POLR3A ALDH18A1 MTPAP FA2H ATRX COG4 BRF1 FGF12 DNAJC12 DHDDS WDR48 CYFIP2 GABRA5 ATL1 PYCR2 USP8 EBP HCN1 AP3B2 EEF1A2 KCNB1 RHOBTB2 UBTF SYNGAP1 SLC30A9 KATNB1 STXBP1 SDHD DDC PLAA NUS1 CACNA1A HP_SPASTIC_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPLEGIA GLYCTK OTUD6B RANBP2 NALCN VPS53 COASY ASNS SLC1A4 GLB1 TBCD RAB18 SCN2A GOT2 ALS2 SYNJ1 TUBA1A SIX6 KIF2A MOCS2 CTNNA2 DEGS1 KIF5C TREX1 SPTAN1 SOX2 TANGO2 CSF1R PRDM8 OSTM1 SEPSECS CYB5A RNASEH2C ELOVL4 UNC80 SOX10 CACNA1E COLGALT1 AP4M1 TUBB3 GAD1 CLIC2 MRPS22 PCDH12 FUCA1 ATP13A2 RNASEH2A COG2 BCL11B STXBP1 DYNC1H1 IBA57 ARSA ADD3 PHGDH TBC1D20 PDHX TUBG1 CYB5R3 CNPY3 TMX2 KANK1 WARS2 ADAR RNASEH2B AUH AP4E1 MOCS1 IFIH1 PLA2G6 SLC19A3 ARX CACNA1D GRIA4 ANKLE2 SAMHD1 HSD17B10 SCN3A MCOLN1 NDE1 LIAS WDR73 NDUFAF4 SLC16A2 TBCE HP_ALZHEIMER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALZHEIMER_DISEASE APP A2M CACNA1G HFE PLAU APOE ABCA7 GATA1 PSEN1 NOS3 PSEN2 MPO HP_BRAIN_STEM_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_STEM_COMPRESSION SMARCB1 TNFRSF11A BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO SMARCE1 NF2 DKK1 FGFR3 TRAF7 HP_CEREBRAL_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CALCIFICATION TYROBP PDGFRB VPS33A TREM2 NHP2 SLC16A2 MGP SLC46A1 ERCC6 FGFR1 SC5D XPR1 GJA1 NOP10 PDGFB MYMK IFNG GNAS RNASEH2C ERCC3 RTEL1 MT-TF TREX1 CA2 CTNNB1 CLCNKB COL2A1 ERCC2 ISG15 CASR NPM1 ZBTB20 GNAQ AIRE WRAP53 ERCC1 TSC1 PTCH1 RNASEH2A SLC29A3 TERT TINF2 DKC1 ENPP1 ACVR1 BRAF MT-ND1 MT-ND4 CTSC PTH ADAR ERCC8 IFIH1 COL11A1 MT-CO1 TSC2 HRAS SAMHD1 PEX6 MT-TW MT-TQ FAM111A SMARCB1 DDR2 MT-ND5 ECM1 SLC26A2 ACD DENND5A TERC USP18 MT-ND6 MYORG SUCLA2 CYP27A1 FARSB RNASEH2B KRAS PTCH2 CYP2U1 OCLN PARN SLC20A2 MT-CO3 NRAS FAM20C SUFU SNRPB CPT2 PSMB8 COLGALT1 ERCC5 DAG1 AP1S2 APP ABCC6 TCIRG1 MT-CO2 GNA11 PHGDH KRIT1 MT-TS2 PAH TNFRSF11A CTNS EIF2AK3 PSAT1 MYO5A SNORD118 JAM2 ATP7A USB1 CTC1 QDPR DNM1L RNASET2 MT-TL1 SLC2A1 SLC12A3 MT-TH OPA1 PEX1 AMER1 HP_WADDLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WADDLING_GAIT TRIM32 CCN6 MYO9A GMPPB HACE1 SMARCAL1 KLHL41 ACTA1 VAMP1 HNRNPA1 AGRN SGCA NEB FKRP SNAP25 PLEKHG5 FGD4 COMP ALG2 EMD DPAGT1 FHL1 ACAN TMEM43 KBTBD13 NEFL MATN3 TPM3 CHST3 SYNE2 DPM3 AP4S1 LMOD3 BICD2 NEFH TPM2 YY1 SLC6A17 COL2A1 MYPN DOK7 FLNC AP4B1 CHKB LMNA AP4M1 SLC5A7 SPEG SELENON ALPL COLQ MBTPS1 SLC25A1 IFIH1 BIN1 MYH2 POC1A DYM DNAJB6 MMP13 SYNE1 MYL2 SGCB GFPT1 COL13A1 MYOT MYH7 AP4E1 CHAT POMT1 LTBP4 VCP TGFB1 SLC18A3 DAG1 TTN CANT1 DEAF1 SLC39A13 DSTYK CFL2 DMD PTH1R MAP3K20 TRAPPC11 COL10A1 FN1 PREPL UFSP2 DYNC1H1 NOG TRPV4 SGCG RYR1 HACD1 ITGA7 LRP5 SYT2 LAMB2 COL9A2 ALG14 ANO5 HNRNPA2B1 HP_INCREASED_INTRACRANIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRACRANIAL_PRESSURE TWIST1 AKT1 ERF PIK3CA BAP1 IL12A PRF1 HLA-B KRAS PRKAR1A TERT KLLN SMO NF2 PDE4D PMS2 TGFBR2 BMPR1A NLRP3 FGFR2 EPCAM SDHB FGFR3 MEFV C4A IL12A-AS1 UBAC2 CTNNB1 GALK1 IL10 KIAA0586 RPS20 USF3 PTEN TCF12 STAT4 CSPP1 IL23R SEMA4A SDHC GNA11 PDCD10 ALX4 ERAP1 PDGFB CCM2 VHL PSAP GALC CCR1 BRAF L1CAM MLH3 SMARCE1 MSH2 APC KLRC4 DKK1 TRAF7 SMARCB1 KRIT1 LRP5 MSH6 SUFU PMS1 TLR4 ELMO2 SEC23B ANTXR1 SOST ZIC1 FAN1 FAS SDHD CASR MLH1 HP_ABNORMALITY_OF_THE_PERIVENTRICULAR_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIVENTRICULAR_WHITE_MATTER HIKESHI SHANK3 CTBP1 CYP27A1 PSAP TET3 TRMT1 TARS1 MPLKIP GLUL RTTN DOCK6 AP4E1 ARHGAP31 LIPT2 FKRP EOGT LMX1B ALDH18A1 DEGS1 OCRL LARGE1 TREX1 CSF1R SEPSECS NSD2 AARS2 DPM2 DLL4 AMPD2 MORC2 ARSA ATP13A2 USP7 ISCA2 GTF2H5 RFWD3 LYRM7 SSR4 FA2H AP4S1 DDHD2 BRF1 FGFRL1 VPS11 ERCC3 RBPJ CLCN4 CDC42 SUMF1 TBCK MEF2C TSEN54 GALC GMPPB AP4B1 SPG11 NOTCH1 STXBP1 POMT2 LAMA1 AP4M1 AP5Z1 GM2A POMT1 CPLX1 RAC1 DNM1L ERCC2 SON PC LETM1 GTF2E2 PUF60 ARID2 RNF113A OPA1 HP_HYPSARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPSARRHYTHMIA DNM1 ABCC8 ASNS SYNJ1 LMAN2L ATP6V1A SCN3A STXBP1 SLC1A4 SLC13A5 CRADD CDKL5 ACTL6B KCNJ11 SETBP1 SPTAN1 CNKSR2 PARS2 LINS1 SLC1A2 GRIN2B ERMARD NEUROD2 SCN8A ALG2 PHGDH WWOX TRAK1 PPP3CA CNPY3 NDUFAF8 SLC45A1 GUF1 HIBCH EEF1A2 SIK1 KIF1A PLCB1 NTRK2 SLC39A8 KCNB1 SCN2A GABRB1 ARX GABRA2 SLC25A22 ZC3H14 CLIP1 PIGP SLC35A2 CASK PIGQ AIMP2 DCPS NRXN1 NF1 CUX2 CACNA1B TRAPPC12 MED17 TIMM50 PIGC PIGW UGDH FBXO31 GFM2 PIGA MED25 SARS1 GCK HCFC1 MBOAT7 TRAPPC9 CC2D1A CYFIP2 MED23 DOCK7 ST3GAL3 TRIM8 C12orf4 NEXMIF IER3IP1 AP3B2 EZR GRIN2D FGF12 NUS1 CACNA1A GLYCTK NSUN2 TNIK CCDC88A DMXL2 GABRG2 KCNQ2 GRIK2 ALG3 ZNHIT3 CLTC TGFB1 ALG13 FMN2 ROGDI ATAD1 CACNA1E NECAP1 PTS SZT2 INS AARS1 FRRS1L NHLRC1 UBA5 PRSS12 ARV1 KDM5B GNAO1 PHACTR1 EPM2A YWHAG PGAP1 MAN1B1 RSRC1 IQSEC1 PDX1 TUBB2A PNKP KCNA2 B3GALNT2 NDST1 HMGCL GABRB2 CNTNAP2 KCNT2 HNMT MFF METTL23 WASHC4 KCNA1 WDR45 TUSC3 AIMP1 NACC1 DHDDS UPB1 EDC3 CRBN GABRA5 DOLK IARS2 TECR ARFGEF2 HCN1 SCN1B SPATA5 SYNGAP1 GABBR2 PLAA HP_AREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA_OF_LOWER_LIMBS MRE11 DNAJC3 PDK3 ATP6AP2 LIFR GLE1 RRM2B TWNK TCAP MYOT MTMR14 SACS ERLIN1 ATXN3 HSPB8 ARL6IP1 HARS1 SMN1 HINT1 ALDH18A1 RNASEH1 VCP KLHL9 SMN2 MAG DNM2 FXN DES PLEKHG4 DYSF ORAI1 GAN SQSTM1 BIN1 POLG C19orf12 OPA3 RAI1 POLG2 STIM1 MYF6 MFN2 HSPB3 GJB1 PGM3 GNE SLC25A4 PRPS1 RYR1 HSPB1 HP_CATAPLEXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CATAPLEXY MOG HCRT NPC2 TNFSF4 DNMT1 ZNF365 TBCD HLA-DRB1 NPC1 HLA-DQB1 CTSH P2RY11 HP_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FALLS NKX2-1 DYNC1H1 MAPT TTN NOL3 LRAT SACS DNM1 DMPK DMD DAB1 MAPK10 FXN ALDH18A1 ORAI1 SLC25A21 FA2H GAN CHD2 PTS GABRB3 PRKAR1B CUX2 SCN1A HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM MAPT DNMT1 GBA TBCD CTSD BSCL2 TBP FUS CSF1R PSEN1 NARS2 ADH1C SLC9A6 VAPB CHMP2B SNCAIP PSAP NR4A2 ATXN2 HTT PLA2G6 SERPINI1 PRNP POLG PIGA BRAT1 C9orf72 GRN PDYN VAC14 ZNHIT3 ATXN8OS SCO2 FIG4 NPC1 GLUD2 KCNT1 HP_AXIAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_DYSTONIA CIZ1 COQ2 MAPT PPP2R2B GNAL COL6A3 HP_ABNORMAL_POSTURING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTURING EPG5 PRNP TOR1A PANK2 ABCD4 TIMM8A HP_ABNORMALITY_OF_THE_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_CORTEX GNB1 CAMTA1 MCPH1 CDK6 LMAN2L KLHL15 TSC2 STS POMT1 B4GAT1 KIFBP TCF4 CLP1 LARGE1 KIF11 STIL SCN1A DEPDC5 GMPPB GABRG2 ATR ADGRV1 TSC1 SMO WDR4 PEX1 TUBA8 ZNF335 PAX6 FKTN CEP135 NUP133 KNL1 SRD5A3 PEX6 B9D1 PHGDH EML1 WDR26 PAFAH1B1 DCHS1 PI4KA DYNC1I2 SCO2 NDUFS2 SLC25A22 ZC3H14 CLIP1 SLC35A2 TMTC3 GPSM2 MTOR PIGQ XRCC4 INPP5E TSEN2 TCTN2 PEX10 FLI1 NUP107 OCLN PIK3CA POMGNT1 C2CD3 NEDD4L MLYCD CEP152 NFIX AKT3 DDX3X CASK FBXO31 GFM2 MBOAT7 MED25 ARL3 KIAA0586 CRPPA SQSTM1 LAMB1 PEX12 LAMA2 CTU2 FGFR1 DONSON TCTN1 TRAPPC9 COL4A1 COPB2 RAB18 ASPM VPS33B TBR1 TBC1D20 MED23 PHC1 SUZ12 PIK3R2 AHI1 ARL13B SCN1B HSD17B4 PNKP SRPX2 CEP104 ARX TUBB2B POMGNT2 C9orf72 TMEM237 CRADD CCND2 VLDLR TARDBP PEX14 RAC1 MECP2 DMXL2 TUBA1A KIF2A MACF1 BICD2 DHCR24 FIG4 NSDHL RAB3GAP2 OFD1 ARMC9 KIF14 GPX4 POMT2 NPRL3 POMK PLK4 PIGP NCAPD3 PLAA FRRS1L WDR62 CEP120 PRSS12 ATP6V0A2 OSGEP KDM5B CEP41 CENPJ RXYLT1 PGAP1 MN1 WT1 TRRAP GNAO1 MAN1B1 RPGRIP1L RSRC1 ST3GAL3 IQSEC1 GABRD SASS6 ETFDH PEX2 COL18A1 FKRP NDE1 CSNK2A1 KCNA1 PEX13 POLR3A CPT2 KIAA1109 NEK1 CDKL5 TUSC3 CCBE1 DAG1 AIMP1 SUFU ASCC1 PIBF1 NDUFAF3 PTEN GPHN USP9X EDC3 SCN2A CRBN NEUROD2 ANKLE2 FAT4 CPLANE1 FTO QARS1 DOCK6 SON TPRKB ADGRG1 EOMES ASNS RAB3GAP1 SNAP29 CHCHD10 RTTN STXBP1 NDUFB8 RECQL4 PEX16 CTNNA2 MAPK8IP3 CDK5RAP2 LINS1 SURF1 RNU4ATAC ISCA1 TUBB3 FUS CENPE GMNN NPHP1 SCN9A CSPP1 ARHGAP31 PEX5 TUBG1 TUFM SLC45A1 FRAS1 LAGE3 PEX26 GRIN1 DCX TP53RK PC CDK5 ACTB USP18 PRKDC PEX19 DCPS KIAA0556 TAF13 KIF5C VPS37A MFSD2A PIGC SARS1 CEP63 CC2D1A TRIM8 ETFA MKS1 C12orf4 IER3IP1 EZR ACTG1 PSAT1 RMND1 KATNB1 ERCC1 MAP11 NSUN2 CUL4B TNIK CCDC88A ATP6V1A ATN1 PEX11B ETFB COL3A1 GRIK2 IFNG BMPER YWHAE TBK1 FMN2 HYLS1 ARHGEF9 MPDZ DHCR7 PYCR2 BRAF METTL5 ZNHIT3 NPRL2 CDK13 SF3B4 DISC1 B3GALNT2 IBA57 HCN1 TUBB FH ADAMTS3 LAMC3 FOXG1 VIPAS39 GLI2 TMEM67 WDR73 TBL1XR1 TBC1D24 CNTNAP2 TRAIP TUBB2A TUBGCP6 ATXN2 NDST1 HNMT SIK1 METTL23 WASHC4 STX1B HIC1 ERMARD DHX37 RELN TUBGCP2 VAC14 VCP ATP6V1E1 AHDC1 DYNC1H1 PEX3 SLC25A19 TMX2 TECR SCN3A CIT HP_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_DYSPLASIA NSUN2 CUL4B TUBB2A TNIK ASNS SNAP29 GABRD B3GALNT2 NDST1 RTTN LMAN2L DCPS TSC2 KIF2A B4GAT1 HNMT CRADD GRIK2 TSC1 METTL23 WASHC4 STX1B KIF5C VPS37A NEDD4L PIGC FMN2 LINS1 SCN1A DDX3X DEPDC5 FBXO31 MED25 TUSC3 GABRG2 SARS1 NPRL3 NPRL2 AIMP1 TUBB2B ADGRV1 FGFR1 MBOAT7 TRAPPC9 COL4A1 CC2D1A ASPM FRRS1L EDC3 HCN1 SCN2A TUBB CRBN PRSS12 SCN9A ARHGAP31 MED23 TUBG1 KDM5B MTOR NUP133 TECR SLC45A1 PGAP1 C12orf4 SCN1B HSD17B4 MAN1B1 TUBB3 EZR RSRC1 ST3GAL3 IQSEC1 CNTNAP2 ZC3H14 CLIP1 SLC35A2 HP_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INABILITY_TO_WALK GNB1 SMS HACE1 GLE1 SLC1A4 SUCLA2 ATP6V1A STRADA NGLY1 CTNNA2 KLHL9 MAPK8IP3 NEB PGAP3 CRAT GRIN1 CPLX1 ADSL SLC1A2 MED25 TUBB3 MYOT VAMP2 CLIC2 NEUROD2 CACNA1G MSTO1 TBCK SLC6A17 CDKL5 MEF2C VAC14 MFN2 SLC9A6 GALC INTS1 ACTL6B SLC17A5 ATP8A2 NUP62 TELO2 KIF1A SLC39A8 SNX14 SDHB GMPPB P4HTM DCPS CHRND DYNC1I2 AGTPBP1 TRIM2 PIGP SLC35A2 ATP6AP2 MDH2 CAMK2B AIMP2 AP4S1 HK1 TMEM107 SELENOI CAMK2A GPAA1 ADAR FKRP RNASEH1 DNAJB6 DNAJC6 FXN DES NTNG2 UNC80 SERAC1 DYSF MBOAT7 FCSK MORC2 LAMA2 SLC39A14 CRPPA VARS1 ASXL3 GEMIN4 WDR45B ALDH18A1 TBR1 FLNC PODXL DHX30 TRAPPC11 PLEC REPS1 TRAPPC2L LRP5 ADSS1 GLRX5 SLC25A4 FAM126A FARS2 TFG CLN3 RHOBTB2 UBTF EPRS1 SDHD FGF12 AP4B1 TBC1D23 VPS33A DARS2 SLC16A2 DNM1 ATN1 SDHAF1 NTRK2 FAR1 GTPBP2 KCNQ2 TK2 SYT1 PANK2 SDHA LMX1B GABRB2 BVES EXTL3 CTBP1 GNPTAB PIEZO2 CACNA2D2 LNPK CACNA1E NHLRC1 KY ATAD3A DMPK MRPS34 STXBP1 POMT2 TSEN15 UQCRQ EPM2A GRIA4 ERBB4 TWNK OTUD6B SLC12A5 SLC19A3 MAST1 RRM2B MAPT MECP2 GOT2 DOCK7 GDAP1 ASPA ARL6IP1 MFF HINT1 MT-ATP6 CACNA1B PYCR2 FA2H FOXRED1 MT-TE PPP2R1A ST3GAL3 PIGS RPL10 TIMM8A EIF2S3 MAGEL2 MPZ C12orf65 SLC2A1 STAC3 SYNJ1 POMT1 SCN3A SPATA5 GABBR2 MFSD2A LARGE1 HP_OLIVOPONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_ATROPHY MBTPS2 ATXN1 ERCC6 COQ2 TTC19 ATXN7 ATXN2 HP_INCOMPREHENSIBLE_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPREHENSIBLE_SPEECH FOXP2 FXN SRPX2 SETBP1 GATAD2B CC2D1A SATB2 GRIN2A HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION PLA2G6 MAPT DNAJC13 POLG ATP13A2 SNCA TAF1 PARK7 GBA VPS35 HTRA2 PDE10A GIGYF2 LRRK2 EIF4G1 GCH1 TK2 FBXO7 TH HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY GSN PRNP RRM2B MAPT RNASEH1 HP_ABSENT_FACIAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FACIAL_HAIR EDA HR PHGDH TCOF1 LRP1 LMNA ZMPSTE24 TWIST2 ANAPC1 FRAS1 SOX18 MBTPS2 AR POLR1C TP63 HOXC13 POLR1D GJB2 BRAF RECQL4 ZBTB20 KRT85 RIPK4 PKP1 NECTIN4 HP_HIGHLY_ARCHED_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGHLY_ARCHED_EYEBROW KMT2D RAC1 PIGY CTBP1 TMEM231 MBD5 TRIO MASP1 TMEM237 FAR1 FAM149B1 ADAT3 INPP5E CEP41 TCTN3 KIFBP AFF4 LMX1B CC2D2A C12orf57 SMC3 EP300 CLP1 NUP188 NSD2 ARMC9 ANKRD11 CHST3 ACTG1 CRKL FRMD4A NIPBL TMEM138 ECEL1 SMC1A FGFRL1 COLEC10 PUS7 KIF7 COX7B PIGV PIGO CDC42 CEP120 TAF6 RPS23 KIAA0753 NPHP1 COLEC11 CSPP1 AHI1 AUTS2 PIGL SMARCA2 BCR TBCK PUF60 STXBP1 NELFA KCNK9 NECTIN1 B9D1 SEMA3E STAG2 CPLX1 CEP290 CREBBP OTUD6B TMEM94 CHD7 MN1 TRRAP TMEM67 RPGRIP1L UGP2 TMCO1 CHSY1 SPECC1L ACTB CAMK2G SETD5 EHMT1 CDH11 PACS1 HSPA9 HDAC8 TCTN2 KIAA0556 TFAP2B MAN2B1 KDM6A ASXL2 BCOR RUSC2 STRADA FAM20C CTCF LETM1 TMEM216 CSNK2A1 PPP2R3C ERMARD MEGF8 PIGW RAD21 ARL3 SOX11 TGDS KDM1A KMT2A MAPK1 CTU2 PIGS LRPPRC PIBF1 SZT2 ASXL3 TCTN1 ASPM TWIST2 OFD1 HDAC4 IGF1R CPLANE1 SLC45A1 SIN3A MKS1 ARL13B TBX4 PGAP3 HYLS1 CYFIP2 CEP104 ABCC9 SPATA5 PGAP2 MEIS2 RPS6KA3 PDE6D KIAA0586 ZNF423 HP_ABSENT_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PUBIC_HAIR GNRH1 NR5A1 EPS8L3 AR GJB6 HP_HYPOPLASTIC_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_NIPPLES SETD5 TP63 EDA EDARADD CCDC47 NIPBL USP9X PTPRF TUBB UBR1 SLC25A24 IKBKG WNT7A SETBP1 ZMPSTE24 MEGF8 RAD21 TBX3 TWIST2 KIF15 SMC1A LMNA HDAC8 ANTXR1 KDM6B PORCN SMC3 KMT2A PIGL GNE CHRNG HP_SUPERNUMERARY_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_NIPPLE ZEB2 TFAP2A CSPP1 TP63 MDH2 COLEC10 PIGY RNF216 TFAP2B PIGO MASP1 HDAC4 ASXL1 ARHGAP31 TCF4 GPC4 IKBKG PIGL KRAS PPP2R5D DHODH GPC3 MEGF8 PIGW PGAP3 TRRAP KDM1A NONO COLEC11 KIAA0586 CKAP2L ACTB TMCO1 PGAP2 PNPLA6 PORCN KLHL7 PIGV HP_ABSENT_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_NIPPLE TP63 CDH11 FIG4 EDA EDARADD SLC25A24 TWIST2 PTPRF HP_INTESTINAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_MALROTATION KMT2D NOTCH2 CTBP1 NPHP3 GPC4 CHST14 ARID1B SMO FGFR2 DHCR24 FLNA SPINT2 NSD2 DHCR7 FBN2 CLMP MYH11 COMT TTC7A PORCN AMER1 NIPBL MYLK MYRF FGFRL1 JMJD1C HIRA SIX1 RREB1 UBE3B CPLX1 HMGA2 EP300 ZFPM2 SALL4 TBX1 CHRM3 SMC3 WASHC5 SETD5 KAT6A TFAP2A CCDC22 FARSB LMOD1 MKS1 ASXL1 HNRNPU LRP2 FLI1 MED12 GATA6 BCOR FOXF1 RAD21 DHODH PIGN EYA1 ARVCF NEK1 RFX6 TP63 MMP21 KLHL7 KMT2A DSE WNT4 ACTG2 ABL1 SEC24C CENPF DYNC2H1 LEMD3 FLNB GP1BB CFC1 SMC1A ACTA2 ISL1 HDAC8 UFD1 LETM1 KDM6A GPC3 LBR HP_ACHALASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHALASIA FLVCR1 IARS2 GMPPA AAAS ACTB GLA TRAPPC11 GUCY1A1 SAMD9 HP_EPISODIC_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_VOMITING SLC25A15 MT-TC D2HGDH SHANK3 INHBA PDCD10 PDSS2 MT-ND5 CCM2 MT-TV HMGCL MT-CYB NFIX MT-TS2 MT-TQ MT-ND4 MT-TK MT-TL1 MT-CO2 GK MT-CO1 MT-TF CDK8 MT-TW MT-ATP6 MT-ND1 ALG11 KRIT1 COQ2 MT-ND3 MT-ND6 MT-CO3 PNPLA8 MT-ND2 HP_HEMATOCHEZIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOCHEZIA ADAM17 ACVRL1 BMPR1A ENG SMAD4 IL10RA PLVAP WIPF1 GREM1 F5 TTC7A APC PTEN HPS1 WAS HP_EPISODIC_ABDOMINAL_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_ABDOMINAL_PAIN EPAS1 LPL STAR MDH2 MRAP RET INHBA SDHD DNMT3A GNE SLC25A11 DLST SDHB SDHAF2 ESR1 VHL CDC73 NNT FLI1 TXNRD2 NF1 HEXB SDHA SDHC FH F12 MC2R DAXX ATRX CDKN1B CDKN1A MAX CDKN2B KIF1B TMEM127 CDKN2C MEN1 HP_TRACHEOESOPHAGEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOESOPHAGEAL_FISTULA CYBB CYBC1 FANCE SEMA3E CYBA HOXD13 TERT ARNT2 FANCG LIMK1 SOX3 FANCM RFC2 ERCC4 MAD2L2 SLX4 FANCC FANCL FGF20 NOP10 WNT7A PARN GTF2I RFWD3 NCF2 TBL2 OTX2 FANCB FANCI ELN FANCD2 GREB1L BRIP1 FBN2 SOX2 FGFR1 CLIP2 FANCA HESX1 NPM1 ZIC3 WRAP53 NCF4 MYCN ITGA8 NCF1 CHD7 FOXF1 PDGFRB TCOF1 NHP2 BAZ1B RTEL1 PROKR2 XRCC2 SPECC1L NOTCH3 RAD51C BRCA2 UBE2T USB1 FANCF TINF2 CTC1 POLR1C RET POLR1D GTF2IRD1 DKC1 PALB2 BRCA1 TERC RAD51 HP_INTUSSUSCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTUSSUSCEPTION BMPR1A STK11 GREM1 PDGFRA ARID1B PTEN SMAD4 HP_ABNORMAL_STOMACH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STOMACH_MORPHOLOGY CYBA DHCR7 SDHB KIT LIMK1 CLCN4 LBR STS KCNAB2 APC GPHN CHST14 ARID1B STK11 PEX16 PDGFRA FTSJ1 TCF4 DNM2 TGFB3 ELN TREX1 CASP10 UPF3B RIPK1 PORCN AURKA NIPBL HNF4A RAB39B HCFC1 PRDM16 TTC37 DLC1 ARHGEF6 WDR4 PEX1 ITGB4 MYF6 ITGA6 SDHC AKT1 PEX5 LRBA CBLIF PTCH1 CXorf56 KANSL1 NUP133 MSH2 LAMC2 MSH3 ALDH18A1 FLCN PIEZO2 PLA2G4A PEX6 ARFGEF2 PIK3CA HNF1B PEX26 TBX3 TRIP13 ARX ERBB2 CTLA4 IL1RAPL1 FIG4 SMC3 HRAS CDH1 PEX19 PLEC CYBC1 TFAP2A IL1RN BSCL2 BCOR FLNA RERE TP53 MGMT PEX10 FLI1 NUP107 SLC2A10 TMTC3 LAMA3 FASLG PPP2R3C RAD21 BUB3 DHODH FAS CNKSR2 RPS6KA3 MID2 CTNNB1 TPRKB BUB1 ABCC2 PDGFRL PEX12 MAPK1 BIN1 NCF4 KRAS AXIN2 SKI SEMA4A NRAS BAZ1B SLCO1B3 TLR2 IL1B TERF2IP FOS CISD2 TSPAN7 POT1 MECP2 ATP7A AGPAT2 SMAD4 BAX LTBP4 NEDD4L SMC1A GTF2IRD1 ADAMTS2 PPARG CAVIN1 KLF6 BMPR1A PTCHD1 ACSL4 PEX14 COL18A1 SH2B1 CEP57 MLH1 BAP1 RFC2 CDKN2A SLC6A5 PTPRJ PEX11B DCC TERT GTF2I PPP2R5D NCF2 ATAD1 ACD MCC USP27X FGFR3 LAMB3 ERGIC1 CLIP2 RASGRP1 NPHS1 CRKL CDK4 BCL10 AIRE FGFR2 SKIV2L GLIS3 SLCO1B1 NEFH MLH3 ALG13 OSGEP AGTR2 ADAMTS3 BCR IQSEC2 COL5A1 PAK3 ENG NEK9 WFS1 NAA10 OTC WDR73 ZNF41 MITF BUB1B RYR1 PTPN12 SETD5 ZEB2 CYBB PLA2G2A FRMPD4 MAP3K7 TP53RK RNF43 ZNF711 MC1R CHEK2 MTMR14 EP300 MED12 DLG3 COL1A1 SYP FOXP3 SERPINH1 RAD54B TBL2 GLRB PRKAR1A MSH6 GDI1 DMD CAV1 PEX13 ARF1 SLC9A7 PTCH2 GABRD CCBE1 GLRA1 VAC14 RPS20 KMT2A ERMARD COL5A2 NCF1 IRF1 TNXB CDKN2B SDHA HDAC4 SPECC1L PEX3 CCND1 MUTYH ODC1 USP9X PEX2 PRKCD SRC MAP1B LAGE3 HDAC8 FAT4 SUFU MTM1 ZNF81 HP_GASTROPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROPARESIS PINK1 TWNK POLG PARK7 TMEM70 LRRK2 POLG2 SNCA HTRA2 ATP7A PODXL TYMP VPS13C SLC25A4 SON SYNJ1 RRM2B UCHL1 PRKN DNAJC6 HP_GASTROINTESTINAL_DYSMOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_DYSMOTILITY EFEMP2 TANGO2 MT-ND6 FOXP3 LMOD1 SLC6A8 BRCA2 B2M POLG FAH PALB2 GUCY1A1 RAD21 KRAS MT-CO3 HMBS FLNA SMAD4 MT-TF DHCR7 MDM2 FUS FCGR2A CLMP MYH11 SAMD9 MYLK TYMP MT-CO2 ACTG2 TGFB1 IARS2 GMPPA TWNK AAAS MT-TS2 EWSR1 SOX10 FBLN5 CAVIN1 GLA CDK4 WFS1 MT-ND1 MT-ND4 DMPK RRM2B WT1 BRCA1 ACTB C12orf65 TP53 TRAPPC11 FLVCR1 MT-CO1 DDIT3 TXN2 HMGA2 GUCY2C CFTR MT-TW IDS PALLD MT-TQ CDKN2A MT-ND5 ACTA2 SON MT-TL1 MT-TH HP_VOLVULUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOLVULUS SETD5 DIS3L2 RAD21 FOXF1 TEK SMC1A HDAC8 ATRX CHRM3 NIPBL SMC3 KMT2A PACS1 HP_CHRONIC_ATROPHIC_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ATROPHIC_GASTRITIS IL1B CTLA4 IL1RN KRAS CDH1 AIRE HP_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLITIS TTC37 RFXANK SKIV2L PLCG2 MAP3K7 NLRC4 IL10RA BACH2 LRBA RFX5 TNFAIP3 STAT1 FOXP3 FAS RTEL1 FASLG IL6 ZAP70 RFXAP NOD2 TGFB1 IL10RB NCF4 CASP10 XIAP PRKCD TCF4 MASP2 RET RASGRP1 FERMT1 POLA1 CIITA INAVA OPLAH GPR35 MST1 HPS1 CARMIL2 GPIHBP1 HP_INTESTINAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_BLEEDING STK11 BMPR1A TEK PTEN APC CTC1 HP_ABNORMALITY_OF_THE_PERITONEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERITONEUM BCL6 MEFV ELP1 BRCA2 F5 EWSR1 BCL2 STAT6 NAB2 PALB2 F10 TTC7A WT1 BRCA1 TP53 MVK HLA-DRB1 KRAS SLC29A3 SMAD4 TNFRSF1A CFB PALLD CDKN2A JAK2 HP_PERITONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONITIS MEFV TNFRSF1A JAK2 CFB F5 MVK BRCA1 HP_GASTROINTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_ATRESIA CEP57 ITGB4 PORCN PTCH1 SEMA3E ARNT2 SMARCD1 RMRP SOX3 RTTN PLEC YY1 SIX6 FLI1 SIX3 IFT80 GAS1 WDR60 OTX2 FANCB NODAL DIS3L2 FOXF1 SOX2 DYNC2H1 TCTN3 BUB3 FOXH1 PIGN SIN3A ITGA6 FBN2 FGFR2 FGFR1 RFX6 ERGIC1 DISP1 RERE TTC7A CDON SHH BUB1 HESX1 TGIF1 SPINK5 RFWD3 SALL1 MYCN FANCL CHD7 EFTUD2 PROKR2 WDR35 CENPF SUFU FGF8 ERCC4 DLL1 PAH TRIP13 GLI2 RAD51C WDR34 TDGF1 CHRM3 BUB1B ZIC2 HP_POLYPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYPHAGIA ITPR3 PTPN22 PREPL MBD5 LEPR GNAS SNORD116-1 MAPT RERE SLC3A1 KCNAB2 PSEN1 MC4R NTRK2 SIM1 SLC5A2 MEN1 CTNNB1 IL6 SNRPN PWAR1 HNF1A GABRD SETD2 PWRN1 AGPAT2 NDN POMC PRDM16 SKI GPR101 BSCL2 BRAF MAGEL2 SH2B1 LEP MAN1B1 ADNP HERC2 NPAP1 MN1 MKRN3 GRN PCSK1 SNORD115-1 HP_GASTRIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRIC_ULCER ERGIC1 PLA2G4A CISD2 WFS1 ARID1B HP_ILEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ILEUS EFEMP2 TGFB1 FOXP3 C12orf65 SLC6A8 GUCY2C CFTR EWSR1 SOX10 FBLN5 CAVIN1 FAH FCGR2A WT1 HMBS HP_HEAD_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TITUBATION NKX6-2 HIBCH LAMA1 GJC2 PLP1 UCHL1 KIF1C HP_HYPOREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA_OF_LOWER_LIMBS IFRD1 DYNC1H1 ATP6AP2 ATL3 STIM1 FLNC HSPB3 CRYAB HSPB8 FBLN5 FLRT1 LDB3 MAG IBA57 ADSS1 HADHB DES DYSF HADHA FBXO38 GAN HSPB1 MYOT PRKCG LMNA KLC2 MYH7 HP_HEPATIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_NECROSIS DGUOK ACADL NHLRC2 MET HADH ACADVL ETFDH ETFB CTNNB1 SDHA BCS1L COX15 SURF1 SDHD COX10 ETFA HP_CELIAC_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELIAC_DISEASE IRF5 SPIB POU2AF1 TNFSF15 SRCAP ELN TCF4 MMEL1 GPR35 MLXIPL MST1 STAT3 IL12A TNPO3 IL12RB1 HP_CHOLESTATIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTATIC_LIVER_DISEASE VIPAS39 NEUROG3 VPS33B SHPK HADHA NOTCH2 DHCR7 HSD3B7 AKR1D1 CCDC115 CYP7B1 HP_CONGENITAL_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEPATIC_FIBROSIS NPHP4 TCTN2 RPGRIP1 SDCCAG8 DOCK6 PNPLA6 TMEM67 ARHGAP31 DZIP1L INPP5E IQCB1 IFT80 EOGT NPHP3 PKHD1 WDR60 SLC40A1 DYNC2H1 CEP290 RPGRIP1L DLL4 HJV CEP55 B9D2 INVS WDPCP B9D1 TRAF3IP1 HAMP RBPJ MKS1 WDR35 CC2D2A MPI TMEM231 CEP164 NOTCH1 TMEM107 WDR19 DOLK NPHP1 CYP7B1 TMEM216 WDR34 CSPP1 HP_BILIARY_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_CIRRHOSIS NPHP3 TGFB1 IRF5 CLCA4 SPIB DCDC2 POU2AF1 LBR CFTR TNFSF15 FCGR2A MMEL1 IL12A DCTN4 TNPO3 STX1A IL12RB1 WDR35 HP_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTENSION CYP11B2 STAR CBL SPIB DNAJC13 KCNJ1 SNCA VHL ELP1 FMR1 PSAP TTR GBA LRRK2 SIM1 TET2 MUC1 MC2R ATRX PDE4D CLCNKB PROP1 SCNN1B CAV1 HSD3B2 ACE DBH POU2AF1 HESX1 GNA11 SAA1 REN CFH DHPS SLC25A20 AAAS LEP NNT SCNN1A COL5A1 GLI2 HEXB GIGYF2 RUNX1 FOXA2 ALB CYB561 COQ2 ATP7A MEN1 RYR1 IL12A CASR CFI GSN MRAP SRSF2 SLC12A3 LEPR DCTN1 LMNB1 B2M HMGCL GBE1 CYP11A1 COL1A1 SERPINA6 IL12RB1 NR3C2 KYNU LHX4 TBX19 DAXX NTRK1 HELLPAR SLC12A1 NFKB2 MMEL1 AGT AGTR1 SOX3 COL5A2 CDH23 AIP GMPPA IRF5 OTX2 ARSA FTL VPS35 SCNN1G CD46 ASXL1 SERPING1 TNPO3 TXNRD2 EIF4G1 CHCHD2 TNFSF15 ACAT1 PRKAG2 DDC POU1F1 HP_AORTIC_ROOT_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ROOT_ANEURYSM ROBO4 CHST3 NKAP ACTA2 BICC1 B3GAT3 POR LOX ENG KCNH1 SMAD4 FBN2 FBN1 PRKG1 COL5A1 AFF4 GANAB SMAD3 MFAP5 TGFBR3 TGFB2 TGFBR2 ELN MYLK PIGN SLC2A10 TPM2 TGFB3 ANGPTL6 MYPN DNMT3A PKD2 AEBP1 MAT2A TPM3 CYP11B1 COL3A1 LMNA TGFBR1 PKD1 COL1A2 CYP17A1 FOXE3 THSD1 MYH11 HP_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION ROBO4 LIMK1 TSC2 KCNAB2 FBN2 FBN1 AFF4 SEC63 TGFBR3 TGFB2 ELN ACTA2 CC2D2A SMAD6 MLX PRKAR1A MYLK MFAP5 GMPPB ADA2 PRDM16 STAT3 SALL4 FBLN5 MYPN NPPA BGN KANSL1 PRKG1 EXT1 PRKCSH AEBP1 ATP7A CRB2 ARFGEF2 SEMA3E SAMHD1 COL3A1 LMNA CHD7 CYP17A1 MYH11 COL1A1 HGD FARSB NKAP FLNA LOX RERE KCNH1 PKP2 SMAD4 TMTC3 CHRNG ALDH18A1 TREX1 HLA-B NKX2-5 MNX1 PKD1 NOD2 EXT2 MAPK1 BRF1 SKI SLC2A10 PTPN22 RAI1 BAZ1B NSMCE2 UBR1 OFD1 RNASEH2B LRP5 TGFBR1 PLOD3 LTBP4 NEDD4L GTF2IRD1 THSD1 GATA5 MED12 MYH3 EFEMP2 PIGY SEC61A1 CHST3 RFC2 BICC1 FLNB PCNT ENG GANAB RAF1 GTF2I STAT1 SMAD3 PAM16 PTEN C12orf57 RYR2 PTPN11 CLIP2 IL12B CRKL TPM2 PEX12 TGFB3 FMR1 ENPP1 DNMT3A COL4A1 RIN2 PKD2 ADAR BCR TGFBR2 TPM3 IFIH1 SOX10 COL5A1 COL1A2 RPGRIP1L GAA GGCX MKS1 B3GAT3 POR TAB2 ZMPSTE24 MARS2 SLC25A24 WDR19 TSC1 TBL2 BRAF RNASEH2C ARF1 EPHB4 GABRD NOTCH1 PBX1 ERMARD ABCC6 PIGN RPL10 COL5A2 RNASEH2A TMEM67 ANGPTL6 CAVIN1 NDE1 MAT2A CYP11B1 FOXE3 MAP1B HP_VARICOSE_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARICOSE_VEINS JMJD1C VHL PIK3CA FIBP G6PC3 SEC24C ENG FLT4 EPHB4 COL3A1 HIRA AEBP1 VEGFC RREB1 GJC2 NOTCH3 FOXC2 GP1BB PIEZO1 ARVCF CLCNKB TBX1 SMAD3 UFD1 COMT SLC12A3 KIF5A RASA1 SLC29A3 HP_OVERRIDING_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERRIDING_AORTA NDUFB11 COX7B HCCS RAI1 ELN LIMK1 RFC2 BAZ1B FGFR2 NEK9 GTF2IRD1 CLIP2 GTF2I TBL2 TGDS HP_ABNORMAL_VENOUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENOUS_MORPHOLOGY RBM10 ATP6V1A VHL PIK3CA G6PC3 ENG FLT4 COL3A1 LMNA COL1A1 NOTCH3 PPARG AGGF1 POLR3A SRCAP PIEZO1 ARVCF CLCNKB PTEN TBX1 MMP21 SLC39A13 COMT FOXC2 ANTXR1 GPR35 PPP1R15B KIF5A MST1 MED25 COG4 UBE2A SLC29A3 COL5A2 ATP6V1E1 JMJD1C UQCRFS1 RAI1 ATP6V0A2 PDCD10 CCM2 FIBP PROS1 GNAQ SEC24C EPHB4 TMEM260 NDP HIRA AEBP1 VEGFC RREB1 ATP7A GJC2 COL5A1 SMOC1 ZMPSTE24 KRIT1 AKT1 PTDSS1 GP1BB TCF4 GLMN PROC SMAD3 UFD1 SLC12A3 MSX2 TEK PYCR1 RASA1 ALX4 HP_DEEP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_VENOUS_THROMBOSIS HABP2 AKT1 SERPINC1 F9 MTRR SERPIND1 PIEZO1 PMM2 PROS1 PLAT PROC F2 THBD F13A1 F5 MTHFR 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 TBX1 ESS2 DGCR6 CRELD1 DGCR2 HP_FAT_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAT_MALABSORPTION ZFP57 CCDC47 PRSS1 LBR HSD3B7 GPC1 SLC7A7 COX4I2 CYP7B1 PNLIP AMACR ANTXR2 PTRH2 BAAT ACOX2 PTF1A EIF2AK3 SAR1B SPINK1 KCNJ11 SRP54 HYMAI PLAGL1 MTTP ABCC8 ABCB11 PEX12 SLC10A2 AKR1D1 SHPK EPHX1 LIPA CFTR ATP8B1 TJP2 CLMP EFL1 SBDS PRSS2 CTRC DNAJC21 HP_VASCULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULITIS NFKBIL1 IL12A ICOS HLA-B MYD88 PADI4 WIPF1 MEFV OTULIN NFKB1 MVK FASLG WAS CASP10 TREX1 TNFRSF1A C4A IL12A-AS1 CTLA4 DNASE1L3 UBAC2 FAS MLX NOD2 MS4A1 IL10 IL12B RASGRP1 CD81 CD244 SAMHD1 ADA2 STAT4 TNFSF12 PTPN22 IL23R CR2 CFI ARPC1B ERAP1 CCR1 VPS13A SCN10A NFKB2 SLC22A4 CD19 KLRC4 PNP SCN9A HLA-DPB1 HLA-DPA1 SCN11A IFIH1 PRKCD LMX1B PGM3 TNFRSF13B TLR4 DOCK8 CIITA NLRP3 PRTN3 TNFRSF13C HP_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOSCLEROSIS ERCC5 SMARCAL1 KCNJ5 LDLR ESR1 GGCX SC5D SMAD3 WRN ABCC6 NOTCH3 MFAP5 TGFBR3 ACTA2 ALMS1 LMNA LOX ELN APOE XYLT1 ABCA1 LDLRAP1 TGFB3 BANF1 ENPP1 APOB FBN1 AGXT COL3A1 TGFBR1 TGFB2 ERCC2 ABCG5 SMPD1 XYLT2 ERCC3 MYH11 LIPC ABCG8 LCAT ZNF687 CYP27A1 BSCL2 NPC2 SERPIND1 ENG CAT SMAD4 PRKG1 HTRA1 CSF2RB CYP7A1 CEP19 CAV1 APOA5 TGFBR2 MYLK LIPA ANGPTL6 PCSK9 CSF2RA FOS TNXB MAT2A PPARG ZMPSTE24 ERCC4 AGPAT2 GLB1 FOXE3 THSD1 ANTXR1 CAVIN1 NPC1 ASAH1 HGD HP_CEREBRAL_ISCHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_ISCHEMIA SMARCAL1 IL12A LIMK1 RFC2 ENG JAK2 GTF2I KRAS GDF2 SMAD3 NOTCH3 MFAP5 GCDH TGFBR3 MEFV ELN IL12A-AS1 CTLA4 MLX CTNNB1 LMNA LOX IL10 GATA6 CLIP2 IL12B THPO STAT4 SH2B3 SCNN1B IL23R GATA4 TGFB3 CBS ERAP1 GLA SMAD4 CCR1 BRAF ACVRL1 KLRC4 FBN1 PTPN22 COL3A1 TGFBR1 TGFB2 APP TP53 MPL PRTN3 CALR MYBPC3 HLA-B ACTA2 SLC2A10 PRKG1 GUCY1A1 PIK3CA TBL2 PIK3C2A C4A UBAC2 NR2F2 TGFBR2 MYH7 IKBKG MYLK COL4A1 BAZ1B SCNN1A ANGPTL6 MAT2A HLA-DPB1 ZMPSTE24 HLA-DPA1 TET2 TLR4 GTF2IRD1 SON ACTG1 FOXE3 THSD1 SCNN1G ACTB NAGS HTRA1 PIGA FAS MYH11 CRELD1 HP_BUDD_CHIARI_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUDD_CHIARI_SYNDROME JAK2 F5 MPL CD55 TET2 HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA EPAS1 MDH2 RET SDHD DNMT3A SLC25A11 VHL DLST SDHB SDHAF2 MAX GDNF NF1 SDHA SDHC FH PRKAR1A KIF1B TMEM127 HP_NEONATAL_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_RESPIRATORY_DISTRESS ASCC1 KAT6A PLEC NKX2-1 MT-TT TRIP4 ALDH7A1 RUNX2 ITGA3 ZC4H2 RSPH3 SLC27A4 MTMR14 MYF6 SFTPB FBN1 HYMAI SRP54 CHRNG PLAGL1 DNM2 UBE3B SNRPB NEK10 SHPK COLQ LAMB2 TRAF7 SCN4A DPM2 CUL7 NPHS1 SBDS CFAP300 RYR1 MTM1 BIN1 MYH3 SOX9 DNAAF6 DNAJC21 RNF168 HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY KMT2D POLR1A HACE1 GLE1 DYNC2LI1 PIGY SMARCAL1 CCDC47 CTBP1 GLI3 LIMK1 GLRA1 KCNAB2 MMP13 GPHN PAFAH1B1 INPPL1 TRAPPC2 FBN2 FANCL AFF4 PTEN COMP SOX9 ARX GPC3 SLC6A9 ELN CTSK COL1A2 PWAR1 BRIP1 COL2A1 ATR PORCN CHRNG FGFRL1 FUT8 BICD2 LRP5 HSPG2 ALDH18A1 GSC PNPT1 IFT43 RUNX2 WDR35 TRPV4 NFIX CCR6 MYH3 NSDHL LGI4 NEB SOX11 KANSL1 EXT1 AEBP1 ERCC8 SEC23A TBX15 SLC5A7 EVC TELO2 ROR2 TNNT1 IFT172 KCNK4 WDR26 HDAC6 MYH8 PCYT1A B3GALT6 SETBP1 BMPR1B SLC35A2 MMP2 VPS33A CEP120 COL13A1 RMRP COL6A1 ZC4H2 ESCO2 FGFR3 SLX4 FLI1 MAN2B1 GPC4 FRAS1 FKRP GLB1 IRF5 SELENON FANCB COL6A3 MATN3 KIAA0319L MIR140 RAD21 UNC80 MCTP2 DHODH PIGN COL11A1 KIAA0586 FANCA MMP9 WDR60 RERE DSTYK COG1 NDN MASP1 ARSB SKI RAB23 GEMIN4 SLC35D1 VPS33B DST TAF1 EVC2 MKKS SEC24D XRCC2 TNNT3 WDR19 CCDC8 GMPPB GDF5 GNPTAB COL5A2 TRAPPC11 WNT7A FGFR2 TRAF3IP1 CRTAP OCRL UBE2T TNFRSF11A FARS2 ATAD3A LMX1B MAGEL2 SMC1A HNRNPK GTF2IRD1 IFT80 ADAMTS2 LETM1 COL10A1 SNORD115-1 PIGV CTC1 SH3PXD2B PYCR1 AP4B1 TTC21B MYO9A ACP5 FLNB PHEX FANCM RFC2 ERCC4 INPP5K SLC6A5 SIL1 AGRN ERCC6 ACTA1 GJA1 FKBP10 SNAP25 CAV1 RNF13 TBX4 PPP2R5D SLC39A13 SRP54 NALCN C12orf57 ARNT2 EP300 NSD2 DVL1 ANKH ANKRD11 EXTL3 SNRPN LMNA CUL7 PHF6 CLIP2 GPX4 PEX5 FBLN1 GORAB HLA-DRB1 TWIST1 TPM2 SMAD4 VANGL1 DCHS1 ATP6V0A2 FLNA ERLIN2 NANS ENPP1 SIX1 BRCA2 PTH1R TGFBR2 AKT1 NELFA DVL3 CPLX1 CREBBP RAB11B FRZB DDR2 DNAJC21 SLC25A1 KIF22 WDR34 BRCA1 ATP7A CHRM3 TPM3 EZH2 RYR1 DYM ZNF469 IDUA BMPER SOX4 TRAPPC12 GNPTG WNT3 B3GAT3 MAD2L2 UFSP2 PLK4 PPP2R1A KDM6A FAT4 SLC26A2 VPS13B GLRB RNU4ATAC ARID1A ATP6V1E1 CFAP410 DYNC2H1 DDRGK1 PIK3C2A SMARCE1 POLR3A SLC18A3 TTN NSD1 PWRN1 CFL2 USP7 KMT2A TRPS1 NIPA1 TRAIP UMPS USP9X ARID2 INTU TNNI2 IHH XYLT1 COL1A1 IFITM5 PYCR2 SYT2 RECQL4 SMAD3 HDAC8 PALB2 PGAP2 CLCN7 AMER1 ABCC9 RSPO2 LIFR FANCE RSPRY1 DHCR7 KLHL41 PRDM5 GPC6 YWHAE VAMP1 MYO18B SMARCC2 CEP152 EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 ZBTB20 SMARCD1 COL6A2 RPS6KA3 SHOX NIN GUSB SCN9A HHAT PIGL SLC10A7 NIPBL B3GLCT CHD4 PRDM16 LMOD3 FZD2 PUF60 GMNN IFT52 PIEZO2 TRIP11 COLEC11 IFT140 AP4M1 SPEG UBE3B FANCF EXOC6B LONP1 COL12A1 HOXA11 NPAP1 FIG4 SMC3 ALG9 CANT1 TONSL NXN VDR FANCG GALNS FUZ PTRH2 SMARCB1 FREM2 EED PPP2R3C FANCI TNFRSF1A POR MYH7 APC2 EYA1 FANCD2 MBTPS2 AIFM1 EXT2 APC GNPAT RPS15A FN1 SLC2A10 OBSL1 EXOSC3 PCNT TWIST2 BAZ1B COL9A1 CCBE1 SMARCA4 HACD1 HYAL1 POMT2 SF3B4 ITGA7 SMOC1 HERC2 SMO SHPK EBP MECOM SOST SBDS ADA DMP1 ERCC1 DPF2 CENPE ARID1B RAD51 LBR CHST3 MBD5 TET3 DYSF ATP6V1A ATN1 GATA1 EIF4A3 GTF2I CENPJ PAM16 ATAD1 LRP4 MUSK THOC2 ATRIP ERGIC1 IFNGR1 IRX5 ECEL1 IFT81 RETREG1 AP4S1 TMEM67 IARS2 COLEC10 PIGO WNK1 KAT6B HLA-B CDCA7 RAD51C SLC35A3 GLI1 THRA VIPAS39 GRIP1 MKRN3 NKX3-2 IFIH1 BIN1 POP1 CD96 CLTCL1 ORC1 COL9A2 POC1A OFD1 WASHC5 SETD5 COL9A3 MYL2 MAP3K7 CCDC22 PLOD1 SNORD116-1 WNT5A FANCC AP4E1 SERPINF1 CCN2 COL5A1 KIF1A CHAT TBL2 RBBP8 PEPD FBN1 PIGW F8 IL6ST GABRD TBCD VAC14 MYBPC1 FHL1 CSPP1 BGN VCP COL11A2 ZMPSTE24 POMT1 TBXAS1 MAP3K20 SNRPB PGAP3 SETD2 AARS1 RPS19 TGFB1 ANTXR1 AP3B1 COL3A1 OSGEP LARGE1 HP_WORMIAN_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WORMIAN_BONES EFEMP2 NOTCH2 PDGFRB HPGD ESCO2 NOTCH3 CTSK P3H1 AFF4 KIF1A COL1A1 FLNA PAM16 SP7 SETBP1 ZMPSTE24 DDRGK1 LMNA SCN9A COL1A2 PLOD2 ATP7A AIFM1 GORAB RETREG1 CHD4 ALDH18A1 BCL11B HSPG2 RUNX2 PPIB FBLN5 SEC24D FKBP10 WNK1 IFITM5 TENT5A ATP6V0A2 CRTAP LRP5 BMP1 TAPT1 THRA ARID2 SH3PXD2B P4HB HP_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_DISSECTION SLC2A10 PTPN22 FOXE3 TGFB3 ACTA2 PLOD1 ENG ANGPTL6 SMAD3 TGFBR1 COL3A1 BGN SMAD4 PRKG1 MAT2A TGFBR2 FBN1 MFAP5 TGFBR3 TGFB2 NKX2-5 SMAD6 LOX THSD1 MYH11 NOTCH1 ELN GATA5 MYLK HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA BGN TONSL ACAN COL2A1 EXOC6B DDRGK1 MATN3 DDR2 MMP13 AIFM1 RSPRY1 NANS B3GALT6 IARS2 KIF22 PAPSS2 HP_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_DYSPLASIA FGFR3 DYNC2LI1 SMARCAL1 RNU4ATAC GLI3 KIF7 FGFR1 MMP13 AIFM1 TRAPPC2 PTEN EIF2AK3 IFT80 PEX16 PEX7 CTSK COL2A1 TBXAS1 POLE B3GALT6 FGF8 WDR11 PHYH LTBP3 DYM HSPG2 PEX1 WDR60 SF3B4 WDR35 COL11A2 PEX5 ACAN COMP RUNX2 HS6ST1 SEC23A DDRGK1 ANOS1 PEX6 CDH3 IL17RD EXOC6B LONP1 PEX26 IFT140 IFT172 HDAC6 DCHS1 POLR1D RSPRY1 PCYT1A PEX19 ALG9 SFRP4 CANT1 TONSL HSPA9 PEX10 GJA1 CDKN1C MATN3 GNAS SLC26A2 TMEM165 NEU1 ACP5 COL9A2 TRIP11 TRPV4 ABCC9 CTSA PEX12 COL10A1 FN1 ARSB LIFR FLRT3 EXTL3 KISS1R WDR19 CCDC141 PTH1R COL3A1 SMO LMX1B ANKH ACTG1 SBDS DMP1 TYROBP LBR TTC21B VPS33A RPL10 PEX14 LOXL3 TREM2 NOTCH2 DYNC2H1 COL9A3 PEX11B IDUA KIF22 SLC39A13 SRP54 DCC PAM16 SOX10 COL9A1 ERF TACR3 CHST3 GPX4 HESX1 RMRP TMEM67 IARS2 BMPR1B STAC3 TCOF1 FLNA NANS ENPP1 AKT1 KCNJ8 DUSP6 POLR1C SEC24D DDR2 MBTPS1 NKX3-2 DNAJC21 WDR34 HBB POP1 PROK2 KRAS PROKR2 NSMF LEMD3 ANAPC1 NLRP3 FGF17 CFAP410 FLNB PEX13 RECQL4 GDF5 ALDH3A2 UFSP2 BGN SEMA3A IHH XYLT1 CWC27 PEX3 CHD7 COL11A1 FAT4 NPR2 SPRY4 PEX2 TGFB1 ACTB FEZF1 B4GALT7 PAPSS2 CEP120 P4HB HP_BONE_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_PAIN FOXE1 TREM2 NOTCH2 CYP19A1 VDR SRSF2 CBL IDH1 ZNF687 PHEX LPIN2 MINPP1 GBA ZBTB16 PTPN11 SLC34A3 KIF1B STAT5B PRKAR1A IDH2 PTH1R CLCN5 TET2 GNAS CTSK TNFRSF11A CA2 ATP7B SERPINF2 VCP NUMA1 CDC73 NABP1 SLCO2A1 EXT2 PSMB8 RARA TCIRG1 FGF23 SQSTM1 EXT1 PML TRPS1 CLCN7 AGXT AP2S1 LEMD3 TNFSF11 HABP2 CYP2R1 SCARB2 TEK STAT3 SNX10 WNT3A ENPP1 FIP1L1 ASXL1 HPGD WNT1 TBL1XR1 CCND1 NPM1 RUNX1 BCOR TGFB1 DKK1 POLE DMP1 CYP27B1 TYROBP IRF2BP2 HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA KIF7 PEX7 PHYH COL9A1 EIF2AK3 SLC26A2 MATN3 HP_SPONDYLOEPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA RNU4ATAC RPL10 IARS2 SMARCAL1 COL2A1 TRPV4 ACAN MBTPS1 CHST3 TRAPPC2 COL11A1 HP_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_DYSPLASIA COL9A3 COL9A1 LOXL3 CANT1 LTBP3 RNU4ATAC COMP HSPA9 EXTL3 COL2A1 TRPV4 XYLT1 COL11A2 EIF2AK3 COL11A1 SLC26A2 NPR2 CDKN1C FLNB MATN3 B3GALT6 TMEM165 COL9A2 ARSB PTH1R HP_SPONDYLOMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA PAM16 CFAP410 COL2A1 TRPV4 ACP5 FN1 PCYT1A GPX4 TRIP11 HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES SMS LIFR CBL SLC34A1 PRDM5 TRIP4 TCIRG1 HNRNPA1 MINPP1 MTAP NOP10 FGFR1 NGLY1 NTRK1 COL1A1 CLCN5 SOX9 TP53 CASR CTSK KRAS CTNNB1 PLOD2 PTEN MOGS B3GALT6 IDH2 NGF WRAP53 SLC29A3 STAT3 SLC9A3R1 FGF8 TNFRSF11A WDR11 MMP14 HABP2 CYP2R1 RUNX2 PPIB SCARB2 FBLN5 NEB FKBP10 BRAF UROS EXT1 WNT1 HS6ST1 ATP7A ANOS1 IL17RD TNFSF11 YY1AP1 RUNX1 MPV17 SLC7A7 CYP27B1 GBA FOXE1 VDR CHRND ZNF687 BSCL2 LRP5 MBTPS2 SEMA5A ZNF469 ACTA1 P3H1 ANTXR2 NRAS SMPD1 AGA GNAS PDE8B EXT2 RB1 TRIP11 PRKAR1A CLCN7 COL1A2 FLRT3 RTEL1 KISS1R SNX10 FOS TENT5A WNT3A CCDC141 KCNJ6 GK ASXL1 GNPTAB TNFRSF11B CRTAP OCRL SCN9A ALPL AGPAT2 IER3IP1 TINF2 PLOD3 P4HB PPARG DKK1 CAVIN1 HNRNPA2B1 CTC1 PYCR1 LBR TYROBP EFEMP2 NOTCH2 CHEK2 CHST3 LPIN2 CHRNG SC5D PANK2 HBB KLHL41 DCC TET2 SOX10 ZFHX2 CA2 ATP7B TACR3 MMP2 GORAB NPM1 SQSTM1 HESX1 LMOD3 PLEKHM1 CBS HRAS WNK1 KIF1A KLHL40 RIN2 NFIX RETREG1 CDH23 CCND1 CTNND2 DUSP6 SEC24D ANO5 CLTCL1 TERC TIMM8A PROK2 CHRNA1 SRSF2 TERT IDH1 ELP1 B3GAT3 PROKR2 NSMF FGFR2 PDE11A SERPINF1 PARN FGF17 MYH3 CAV1 VCP FZD4 PHEX TBCD FGF23 PRKACA SGMS2 PTH1R SLC4A1 ASCC1 AGXT LEMD3 SEMA3A NHP2 IFITM5 FN1 COL2A1 CHD7 EIF2AK3 GLE1 USB1 TAPT1 SPRY4 TPM3 DKC1 SLC34A3 GATA1 FEZF1 USP8 TMEM38B HP_PAINLESS_FRACTURES_DUE_TO_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAINLESS_FRACTURES_DUE_TO_INJURY MPV17 SCN9A ZFHX2 NGF NTRK1 WNK1 KIF1A RETREG1 HP_DELAYED_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_EPIPHYSEAL_OSSIFICATION COL9A3 KCNH1 CYP19A1 RNU4ATAC CYP2R1 VDR ESR1 SLC34A3 COL2A1 GPX4 CYP27B1 B3GALT6 COMP KIF22 CLCN5 PTH1R DDRGK1 HP_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM EPCAM BAP1 CYLD WT1 CTBP1 GLI3 CTNNB1 ELMO2 ATRX TERT EDN3 MTAP TSC2 RAD51 BLNK KCNAB2 WDPCP SPINK1 ARID1B PTEN STK11 XPA PTH1R TCF4 NF1 GPC3 ERCC3 MC1R CASP10 PDGFRA RPL5 CDH1 BRIP1 RUNX1 KRAS SFTPC GPR35 MYLK STS DYNC2LI1 RAG2 CBL FOXE1 STAT3 TTC37 ABL1 NSD1 ATM KCNH1 GPR101 KRT17 SUFU CYP11B2 MLH3 PTCH1 FAH MSH2 EXT1 CCND1 MSH3 ATP7A SEC23A PHOX2B HAX1 MYD88 LMO1 PIK3CA PRLR AXIN1 AKT1 ERBB2 REST DCLRE1C SERPINA1 TMC6 RASA1 MT-TL1 CALR HRAS INS RNF113A SETBP1 SLC37A4 TFAP2A KIT IL1RN MUTYH GBA BCL2 GINS1 ESCO2 TET2 SLX4 DICER1 PALB2 NEK1 COL7A1 PTCH2 WRN GCM2 BRD4 BRAF TREX1 THPO NRAS CDC73 POU6F2 GNAS DAXX BUB3 RSPO1 MNX1 ERCC2 RPS28 ANTXR2 POT1 FANCA KDM6B RET MST1 NOTCH3 FGFR1 LYST CHIC2 MET KRT10 UROD SLC25A11 ARSA EVC2 TEK XRCC2 CASP8 ASCL1 IL1B TERF2IP MPL OFD1 RHBDF2 MDM2 MMP1 CDKN2A FGF8 NR4A3 FGFR2 OCRL TP53 ERCC4 ALX4 TINF2 SRY SRP72 NF2 LETM1 FANCB TAL1 TDGF1 BRCA1 LEMD3 NUP214 RAD21 COL18A1 SDHD ICOS CEP57 FANCM PTPRJ FANCE SLC22A18 PIK3R1 JAK2 FLT4 SMO WIPF1 DLST RAD50 MEN1 CHEK2 GPC4 CYP2A6 HBB GANAB XRCC4 ATP7B EP300 DIS3L2 HFE CARD14 ALX3 VANGL1 SDHB EXTL3 GATA2 BCL10 WAS RMRP TWIST1 BMPR1B FOXP1 SMAD4 APC PCGF2 USP8 DMPK DKC1 ADAR BCR SLC45A2 GJC2 TNFRSF4 IFIH1 MSH6 PAX6 TGFBR2 KLHDC8B CPLX1 AIP PMS1 CREBBP CTSA SH2B3 PKD1 MT-TF SEC23B DNAJC21 MITF IGLL1 MDH2 SCN4A SDHAF2 PRKN PLA2G2A RNF43 DNMT3A NSD2 FANCG BRCA2 CAT BMPR1A MAD2L2 SIX6 DDB2 GREM1 PAX4 RPS17 TRPV3 C11orf95 IL12RB1 PPM1D NODAL HNF1A ERCC6 BTK SLC26A4 SEMA3C AR TERC RPL35A RPS20 CDKN1C SF3B1 RFWD3 KCNQ1OT1 RPL10 ACTG2 MAGT1 ALK BLM H19 RPL31 MLLT10 PYGL RPL15 IRF1 CR2 MYC PTPN11 TUBB KCNQ1 NFKB2 ALX1 HLA-DRB1 EWSR1 NBN GCK DLL1 PDGFB L2HGDH PRKCD CTC1 RPL27 KIF1B SRC CIB1 RECQL4 CDKN2B PDE6D SDHC CCL2 PMVK XPC MVD DHCR7 GPC6 KARS1 VHL NAB2 KEAP1 TSC1 NQO2 TCTN3 PMS2 RAD51C STAG3 SNAI2 MAP3K8 NPM1 RARA ERCC5 SLCO2A1 COL2A1 PIGL CPLANE1 AURKA LAMA3 RPS26 GFI1B CDKN1B PRDM16 AXIN2 FZD2 AP2S1 LZTR1 GNA14 MSTO1 RPS29 DHX37 MYF6 MALT1 ELANE MAP3K1 GDNF TGFBR1 CREB1 TNFRSF10B LMNA WWOX RPS10 RSPRY1 TRIM37 TNFRSF13C FANCC LIG4 BDNF LMOD1 TMEM107 GJB2 CTSC RAD51D RASGRP1 RB1 MYH8 PRF1 MXI1 SMPD1 COL1A1 PDGFRB FAS FANCD2 DISP1 PDGFRL IKBKG BIN1 ADA POLE SEMA4A TLR2 MINPP1 SOS1 CTLA4 ASXL1 SAMD9L TRAF7 GATA4 CBFB MST1R GCGR COL4A5 CDKN1A TRIM28 POLH FLCN GPR143 SBDS SLC12A3 KLF6 GNB1 PIGA TYROBP GFI1 SLC26A2 TREM2 SFTPA2 JAG1 EGFR PLCB4 NLRP1 HNF1B ZFHX3 EPHB2 KLLN OCA2 FH SRD5A3 NFKB1 STAT1 IFNG TBX18 MAP2K1 EXT2 RTEL1 FGFR3 MAP2K2 CLCNKB MS4A1 CRKL NUTM1 CDK4 NTHL1 ETV6 SQSTM1 FAM20C TYR SRSF2 TCOF1 PAX3 ADAMTS3 PLCD1 PUF60 CDH23 SCN9A FOXC2 SMARCB1 VANGL2 ENG SH2D1A SOX9 SDHA PGM3 TBC1D24 CHD7 DHH IL12A TNFRSF13B CD28 MLH1 PTPN12 CCDC22 APPL1 COL14A1 PSENEN IL2RG SMARCA4 KIF11 PHKG2 FLNA WNT5A MGAT2 KCNE3 ECE1 PARN IDH2 ARL6IP6 HMBS SLC6A17 PRKAR1A KDSR DHCR24 CXCR4 DDX41 GABRD NR0B1 DMRT3 GDF5 TBXT NRTN PHKA2 ITK RNASEH2A PERP CYP2D6 CD27 FUZ RPS19 SMARCE1 TNFSF12 ZSWIM6 RHOH BUB1B TNFSF15 OPCML SETD2 FAT4 ANTXR1 WNT10A TP63 EFL1 IL7 MN1 DOCK8 SSX1 TMEM231 MPLKIP BIRC3 PDX1 PSAP FANCL CD79A KLF11 MAPRE2 CYSLTR2 DNM2 SH3GL1 FOXH1 RELA ERBB3 TJP2 CD81 PNP ATP6V1B2 GNAQ WRAP53 CHRNG KRT14 DLC1 FGFRL1 HABP2 ATR MT-TK TRIP13 SMARCD2 PIEZO2 EVC IL6 PALLD POLR1D FOXO1 FIBP RB1CC1 B3GALT6 FLT3 GJA1 MRAP MTOR FOXI1 KRT6B KRT16 MYSM1 MGMT SIX3 ASCC1 GAS1 FASLG C2CD3 KDR SOX2 NBEAL2 SRGAP1 AGGF1 RPGRIP1L NOD2 BAX TGIF1 MAPK1 ESR1 RPL11 SKI LAMB3 XIAP CCM2 SCN10A F5 GNPTAB TBX2 VEGFC RNASEH2B SEMA3D ARMC5 IGF2 UBE2T ARHGAP26 SCN11A LMX1B F13A1 COMP EDN1 ACTB CDKN2C ASPSCR1 NAGS DLEC1 STAR GNA11 PORCN MT-RNR1 SPIB CTHRC1 OGG1 POLD1 DCC SRP54 RAF1 IDH1 ACD ACAN TOP2A DVL1 STIM1 KRT9 VAMP7 MRE11 RPS14 CACNA1S SKIV2L G6PC LRP5 BARD1 RPS27 RPS7 ENPP1 STAT6 ACVR1 MTM1 NEUROD1 PKD2 FGF3 SIX1 LAMC2 NELFA DVL3 GJB4 NSUN2 POLR1C GJB3 MT-TH ECM1 STK4 MSX2 RYR1 DPM1 TCIRG1 HOXD13 TARS1 BMP2 MT-TS2 MTMR14 NR5A1 ABCA5 AHCY RNF6 RAD54L HMMR RNF139 FCN3 RNASEH2C CCBE1 HNF4A MMEL1 BUB1 TRPS1 ABCC6 IRF5 USP9X TAL2 INTU HDAC4 MFN2 DYNC2H1 PLAG1 MAX CYP11B1 ODC1 MSR1 TNFRSF1B RAG1 PRCC RPS24 GATA1 KAT6B SLC25A13 NOP10 SPRTN NKX2-1 IGF2R CD19 MT-TP ZFPM2 MT-TQ IGHM MYH11 TMEM127 CDON SAMD9 RNASEL GTF2H5 LPP PDCD10 HSPG2 RPL26 CEBPA ACVRL1 ABCB11 BLK RAD54B FANCF EXOC6B SAMHD1 SHOX MYO1H COL11A2 KCNJ10 CC2D2A LZTS1 SPRED1 KRT1 LIN28B GTF2E2 ZIC2 SH3KBP1 BCL6 MCM4 SMARCAD1 RERE YY1 IL7R TMEM67 C1S TAF1 KCNJ11 FANCI MBTPS2 NEK9 GNAI3 APC2 EYA1 ZAP70 SSX2 CARMIL2 SLC17A9 TMC8 PCNA EPAS1 TFE3 GJB6 NDP TNPO3 TXNRD2 TAF15 NOTCH1 LRRC8A ABCC8 FAN1 TG PICALM BICC1 RPS15A FAM149B1 SASH1 INPP5E MYCN EDNRB FLI1 GDF2 PHB BMPER MCC MC2R KCNN3 DNASE1L3 SHH RPL18 PAX7 INHBA KIF7 XRCC3 POU2AF1 CYP26C1 KIAA0753 MUC5B TSR2 NNT GLI1 GLI2 PTPN3 CD79B FN1 EIF2AK4 WASHC5 AAGAB KRT5 ADA2 HSPA9 PHF21A NUMA1 TMEM216 MAFA RPL35 PPP2R1B CD70 CEL MAD1L1 FERMT1 TCF3 USF3 FDPS HACE1 MT-ND5 NHP2 ING1 CASR HPGD STAC3 USB1 KRIT1 BCHE MVK SMAD7 F13B CD96 HP_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOMA CHEK2 CBL ICOS BIRC3 PIK3R1 WIPF1 IL2RG LIG4 NOP10 NFKB1 MLH1 XRCC4 TCF4 TET2 PTEN CD19 CASP10 DNASE1L3 MS4A1 RASGRP1 NTHL1 NPM1 CD81 RAG2 WRAP53 BCL10 WAS STAT3 RMRP ATM SRSF2 FOXP1 ASXL1 TNFRSF13C MALT1 DKC1 APC CCND1 MYD88 RAD54B CDKN2A RUNX1 SH2D1A KLHDC8B NSUN2 PGM3 TNFRSF13B CHD7 TERC CD28 NRAS MSH2 AAGAB TP53 BCL6 BLM RNF43 TERT CR2 COL14A1 BCL2 KIF11 IL7R KIT RB1 PARN RECQL4 FASLG RAD54L PRF1 FAS MSH6 DDX41 ZAP70 PMS2 CTLA4 MYC LYST ADA POLE TNFSF12 MAGT1 ITK XIAP NHP2 RTEL1 NBN CD27 NFKB2 MDM2 HLA-DRB1 RHOH PNP USB1 PRKCD TINF2 CTC1 DCLRE1C TNFRSF1B RAG1 TP63 KRAS HP_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHEOCHROMOCYTOMA EPAS1 MDH2 RET SDHD DNMT3A CCND1 SLC25A11 VHL DLST TSC2 SDHB SDHAF2 NF1 MAX TSC1 GDNF SDHA SDHC FH PRKAR1A KIF1B TMEM127 HP_PARAGANGLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAGANGLIOMA EPAS1 MDH2 RET SDHAF2 SDHC SDHD DNMT3A CCND1 SDHB SLC25A11 DLST VHL NF1 SDHA FH DAXX ATRX MAX KIF1B TMEM127 HP_OSTEOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOSARCOMA CHEK2 RB1 TP53 CDKN2A MTAP LMNA RPS19 RECQL4 SQSTM1 MDM2 WRN HP_BASAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_CELL_CARCINOMA ERCC5 XPC MLH1 KRAS CYLD OCA2 KEAP1 TYR PMS2 TGFBR2 BMPR1A FASLG EPCAM ERCC3 NRAS MSH2 MC1R CASP10 FAS MSH6 PTCH2 RASGRP1 RECQL4 NTHL1 RPS20 POLH PTCH1 DDB2 TMC6 SEMA4A HRAS WNT10A DICER1 MLH3 APC SLC45A2 ERCC2 ERCC4 LMNA PMS1 RASA1 PRKCD CIB1 PIK3CA SMO FAN1 SUFU HP_GASTROINTESTINAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_CARCINOMA EPCAM POLD1 PLA2G2A MLH1 PTPRJ TP53 MUTYH BUB1B BMPR1A GREM1 DCC APC EP300 WRN PMS2 STK11 RAD54B MCC MSH2 FGFR3 CTNNB1 BUB1 NTHL1 GPR35 PDGFRL AURKA MST1 AXIN2 DLC1 NRAS TLR2 POLE MLH3 AKT1 TGFBR2 CCND1 FLCN MSH6 ODC1 PIK3CA SMAD4 BAX TCF4 SRC PTPN12 HP_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VALGA ABCC9 IDUA CCDC47 GLI3 SOX4 GLB1 GALNS INPP5K SIL1 B4GALT7 SMARCC2 WNT5A MAN2B1 MGAT2 NFIX ARID1B TRIP11 EIF2AK3 NGLY1 RBM8A LMX1B SMARCB1 ARID1A EED SMARCD1 TGFB3 MIR140 DVL1 SMARCE1 COL2A1 PDE4D LMNA CANT1 COL11A1 CRKL SLC10A7 COG1 COL1A2 B3GALT6 MAPK1 COG4 FUCA1 BGN FZD2 FLNA SLC2A10 ENPP1 RAB23 HSPG2 ARID2 EXTL3 XYLT1 ERCC6 COL1A1 SMARCA4 SOX11 BCR STXBP1 DVL3 ATP7A ZMPSTE24 SHOX ADAMTSL2 KCNJ8 ARCN1 TGFB1 IFIH1 ADAMTS2 GTF2E2 COG8 POP1 RPS6KA3 ATRX DPF2 ORC1 EZH2 SLC35A2 HP_CLOVERLEAF_SKULL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLOVERLEAF_SKULL FGFR2 FGFR3 RAB23 FGFR1 EXTL3 POR MEGF8 WDR35 HP_SKULL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKULL_ASYMMETRY FGFR2 RSPRY1 TWIST1 FTO MASP1 HP_ABNORMALITY_OF_THE_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SELLA_TURCICA STUB1 ABCC9 IDUA CDH11 NKX2-1 VPS33A RMRP PCNT SLC17A5 MAN2B1 PTCH1 BMP4 ZSWIM6 GNPTAB TRIM37 LHX4 ADAMTSL2 PLOD3 DYM NOTCH2 PTCH2 SUFU GUSB MAF HP_J_SHAPED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_J_SHAPED_SELLA_TURCICA IDUA GNPTAB SLC17A5 VPS33A TRIM37 GUSB ADAMTSL2 PLOD3 RMRP MAF HP_DEFORMED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_SELLA_TURCICA IDUA GNPTAB VPS33A ADAMTSL2 PLOD3 RMRP DYM NOTCH2 PTCH2 SLC17A5 PTCH1 SUFU TRIM37 GUSB MAF HP_ABNORMALITY_OF_THE_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALVARIA TWIST1 FGFR3 CTBP1 SLC12A6 PHF6 KCNJ1 TCIRG1 KIF7 KCNAB2 ARHGAP31 SGSH PTEN EDA2R UBE3B UPF3B KCNJ11 SOST FGFR2 BRIP1 KRAS MOGS ATRX ADSL TMEM138 CBL TCF12 STAT3 NSD1 BPNT2 GJA1 SMO BANF1 PPIB PEX1 WDR35 REN FKBP10 COL11A2 BGN PTCH1 NCAPG2 ATP7A SEC23A SRD5A3 B9D1 FGFR1 HDAC6 FAM111A PI4KA HRAS RNF113A SETBP1 RAI1 SLC35A2 TFAP2A CEP57 ROR2 CHST14 CEP120 INPP5E GATAD2B KIT IFT43 NKX2-1 ESCO2 TCTN2 PEX12 SLX4 PEX10 MECP2 PTCH2 TAB2 SUFU CHRNG DVL1 INPPL1 PAX8 BRAF TREX1 NRAS NSMCE3 AGA RAD21 HGSNAT NFIX BUB3 OFD1 NALCN TSHB MBD5 SLC26A2 FLCN ARL3 SLC39A8 COL11A1 FANCA TRIP11 KDM6B KDM1A KLHL7 DMP1 DSE ARSB PEX7 FBXO11 RAB23 VARS1 COG4 TCTN1 PHGDH CHD3 TAF1 SEC24D XRCC2 ITCH ABCC8 CCDC8 DLX3 TENT5A NKX2-5 DICER1 HYMAI ZFPM2 SOX9 SALL4 CRTAP LRP5 OCRL EBP ARL13B GATA6 WNT5A ALX4 HSD17B4 MAGEL2 ANKH CEP104 UFD1 LETM1 SLC26A4 FANCB KIAA0586 MEGF8 SNORD115-1 HNRNPA2B1 SH3PXD2B MYH3 TSHR TBCE COL18A1 ATP6V1B2 ICOS SMARCD1 FANCM TRIO TBX1 SNX10 RAB3GAP1 ERCC6 POU1F1 MEN1 LHX4 RAF1 ZMPSTE24 TONSL PPP2R5D XRCC4 DPF2 C12orf57 EP300 DLL4 COL1A1 LFNG ARMC9 ANKRD11 EXTL3 DEAF1 SNRPN CUL7 PDE4D MMP2 GCK ERCC2 COMT POR TBC1D7 SLC5A5 CLCN7 ZFP57 GLIS3 PEX26 SMAD4 NPR2 ERF ERCC3 EFTUD2 MAFB DCHS1 SOX5 PEX5 PCGF2 PDHX ATP6V0A2 NANS ENPP1 SMAD6 NOTCH1 DUOX2 HIRA ADAR CEP41 TGFBR2 AKT1 IFIH1 PLA2G6 RNF125 CRIPT PTDSS1 CPLX1 AIP RAC1 CREBBP OTUD6B MN1 UGP2 HPGD PREPL WDR34 FKTN CRPPA RAB39B RERE TMCO1 RNPC3 NSD2 GATA5 RAB18 RMRP TTC8 FREM1 TRPS1 PEX2 FZD2 KCNK9 MAD2L2 SIX6 DDB2 MED12 NBAS PLK4 PPP2R1A GATA4 PLAGL1 GJA8 TALDO1 DYNC2H1 FBN1 PEX13 ALPL KIAA1109 NEK1 PHEX NAA10 POLA1 PWRN1 KIDINS220 CDKN1C USP7 KMT2A HUWE1 ARX PIGN PIGT RPL10 PIBF1 BLM LEMD3 CR2 ATR TRAIP COL1A2 CDC45 KCNQ1 NFKB2 TNFRSF11A ALX1 FAT4 PDHA1 KIAA0556 PRKAR1A LRP4 TAPT1 KDM5B ERCC4 ALG8 PRKCD IFT122 GNAS CDC6 COL2A1 RECQL4 SMAD3 POLR3A HDAC8 PALB2 PEX16 PDE6D P4HB CAMKMT DHCR7 KMT2E GPC6 MASP1 RTTN TUBB AMACR SC5D CEP152 CHD1 TCTN3 PPP1CB SNAI2 HES7 TGFB3 NUP188 ERCC5 RPS6KA3 ALMS1 PLOD2 GRIN1 MSX2 PIGL RNU4ATAC AMER1 B3GLCT TUBB3 PRDM16 ERCC1 FLNB EDA HSPG2 LMNA TBCK GMNN IFT52 COLEC11 MBTPS2 HESX1 RREB1 IFT140 PEX11B GJB6 HNF1B LBR TUBGCP4 WASHC5 LHX3 RSPRY1 CHSY1 TRIM37 ACTB GLI3 PEX19 TNFRSF13C ALG9 NXN NID1 P3H1 UBE3A NAGLU MAN2B1 WDR60 FLT4 KAT6B CNTNAP1 SLC25A24 FANCD2 NEU1 GNPAT JAG1 HCFC1 LRP2 POLE BRWD3 DVL3 IL11RA BCL11B ATIC CCBE1 UBA1 GK MKS1 PIGO SMOC1 ZDHHC9 GYPC TLK2 TBX4 DUOXA2 GP1BB NONO ACTG1 PNPLA6 MVK FLNA RAD51 SLC16A2 TET3 ADAT3 LIG4 NFKB1 CDK8 ZIC1 ZIC2 TPO WDR19 SMC3 KYNU PIK3R2 MAP2K2 MPDZ KIF15 GNPTAB MS4A1 ATRIP ERGIC1 IRX5 EXOC6B ZBTB20 FAM20C INS IFT81 RETREG1 LMOD3 COLEC10 PIGV TCOF1 SNAP29 FMR1 RPS23 ITGB4 DPH1 KLHL40 SMC1A PIK3CA CENPJ FH ADAMTS3 RAD51C DIS3L2 TNFRSF11B ALG1 TMEM67 TBL1XR1 TBC1D24 DLL3 CD96 FLII CYP27B1 SETD5 CCDC22 SNORD116-1 PRPS1 TG POGZ EXT2 MGAT2 PPP2CA CNTNAP2 GPX4 EOGT ALDH6A1 CTCF RBBP8 DHCR24 DHX37 PIGW VCP MAN1B1 IL6ST GABRD ADK TBCD CDK10 ATP6V1E1 CSPP1 RNASEH2A TGFBR1 NOTCH3 AHI1 TNFSF12 ZSWIM6 CYP2R1 CUL4B BUB1B TRHR HYLS1 SETD2 RPS19 TGFB1 ABCC9 GTF2E2 ANTXR1 SLC34A3 SNX14 BMS1 SMS PIGY SLC39A14 CCDC47 PDGFRB TMEM231 GJA5 MPLKIP PDX1 PAFAH1B1 FBN2 FANCL AFF4 DDX59 FOXG1 MAP3K7 SLC6A9 KIF11 CTSK ARID1B DPM2 PWAR1 MED13L CD81 EPB41 FGFRL1 MMP14 ALDH18A1 ORC6 RUNX2 CHRNA7 XPC KANSL1 SLC17A5 ERCC8 TBX15 PIEZO2 PEX6 KIF1A TNFSF11 HMGA2 TNFRSF13B POLR1D MCOLN1 SPECC1L DENND5A SHANK3 MTOR EDARADD SRCAP CA2 HSPA9 MYMK DOCK6 MYSM1 FLI1 FRAS1 C2CD3 SOX2 NTNG2 SKI MIR140 UNC80 MCTP2 RPGRIP1L LARS1 ARVCF CKAP2L PRUNE1 NDN CTU2 HBA1 AGTR1 DONSON PTPN11 IQSEC2 RBPJ UBR1 CPLANE1 KAT6A TBX2 RNASEH2B IGF2 BMP1 UBE2T HERC1 TMEM216 ASXL3 MAF TECPR2 HNRNPK KPTN COL10A1 TMEM237 RBM10 EFEMP2 PEX14 RNF216 CDH11 ADAMTS10 METTL23 MOCS2 CCNQ CC2D2A MEIS2 ZNHIT3 GCDH RAB3GAP2 ACAN FOXE1 GRIA3 GORAB OPHN1 FUCA1 MYCN GLB1 JMJD1C TCF20 TMEM70 TBC1D20 VDR SPTB CNTN1 BRCA2 STXBP1 NELFA SYT1 NSUN2 IDS POLR1C DDR2 CITED2 KIF22 NFKBIA PIK3R1 RYR1 BRCA1 FGF9 PYCR1 DYM DPM1 IDUA EHMT1 HOXD13 SLC35A1 TARS1 B3GAT3 ETFDH SIX2 SON TUBGCP6 PLEKHM1 KCNQ1OT1 SP7 DDRGK1 RNASEH2C EFNB1 BUB1 AP1S2 SATB2 TFAP2B AHDC1 USP9X INTU HDAC4 NGLY1 SEC24C PPM1B IFITM5 CTNS CYP26B1 BMP4 FTO RB1 PGAP2 RIPPLY2 LIFR FANCE SLC35D1 GDF1 CTSD YWHAE HNRNPA1 STAG2 IFT80 RFWD3 SPRTN ASPA SCN9A SMG9 LHX1 TBXAS1 NIPBL GNE GTF2H5 CHD4 ACE FBLN5 NEB GNS NPHP1 CD19 AUTS2 INTS1 SCARF2 ZNF148 FANCF ADNP LONP1 SAMHD1 PTHLH NPAP1 TRIP13 MESP2 ADAMTS2 GPR101 FIG4 B9D2 ACOX1 NLRP3 SFRP4 SHOX TTC37 TDP2 FANCG PPP3CA YY1 ASXL1 NRXN1 ACTA1 PTRH2 FREM2 PCLO FANCI UGDH APC2 ORC1 PAK1 EDAR PIGA AIFM1 APC AGT PRMT7 SPTA1 SLC2A10 OBSL1 MAP2K1 CHN1 PCNT KMT2C WAC DPYS ETFA MOCS1 NPHP3 HERC2 SHPK PSAT1 TRAPPC9 ZNF423 NKX2-6 CENPE NOTCH2 CHST3 ATP6V1A PROP1 ETFB FAM149B1 GATA1 WNT7A MID1 XPA KLHL41 LMX1B LAS1L BMPER PAM16 ARHGEF9 THOC2 D2HGDH BMPR1A STAC3 COX4I2 SLC29A3 TBX6 KIAA0753 WNK1 ATAD3A PQBP1 SLC3A1 THRA CEP290 ORC4 GRIP1 MKRN3 ARCN1 ADAMTSL1 SIM1 PHF21A IYD SET HNRNPU FANCC FBXL4 SIK3 RNF135 PLEC ERMARD RBM8A PEX3 FERMT1 VAC14 SGMS2 FHL1 PTH1R MITF DYNC1H1 CWC27 NDE1 CDT1 ZNF142 PGAP3 WDR73 ARID2 HBA2 HP_THICKENED_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CALVARIA SNX14 SFRP4 TMEM67 CDH11 PTDSS1 PHF6 HPGD RUNX2 ERCC6 LRP5 MAN2B1 FLNA NONO GNPTAB PLEKHM1 SLC17A5 ERCC8 SMAD4 COL11A1 TNFRSF11B AGA DVL1 POLR3A PDE4D GNAS SGMS2 AMER1 RPS6KA3 AP1S2 DYM HP_PRENATAL_MATERNAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MATERNAL_ABNORMALITY RSPH1 MSX1 SPAG1 SOX3 FOXJ1 MCIDAS CPT1A SERPINC1 GAS2L2 SMAD3 DNAH1 CCDC151 MFAP5 PPARG DNAL1 HADHB FOXH1 CLCNKB FGFR1 LOX ERGIC1 ELN POR CDON SHH HESX1 CFAP221 DNAAF1 RPGR RSPH9 STK36 VANGL1 TGFB3 TP63 DNAH9 CFH OFD1 RSPH4A DHPS DNAH5 TSHR CYP11B2 NKX2-5 NME8 GAS8 FBN1 TTC12 LMNA NECTIN1 HBA2 TGFBR1 TGFB2 CORIN EP300 GLI2 CCDC65 CFAP298 CFAP300 NR3C2 ZIC2 CFI DNAI1 SLC35A2 PTCH1 DNAJB13 CYP19A1 SPEF2 LBR CCDC40 ARNT2 ACTA2 FUZ KCNJ11 ZMYND10 SMAD4 CYP11A1 PRKG1 SIX3 ADGRG6 GAS1 OTX2 IRF6 NODAL CCDC39 ARMC4 HBA1 TTC25 DNAAF2 HELLPAR DNAI2 MME TGFBR2 DRC1 SLC25A20 DISP1 NEK10 TGIF1 MYLK RSPH3 LRRC6 HADHA DNAAF5 CCNO STOX1 PROKR2 HYDIN DNAAF6 SUFU CD46 CCDC114 CCDC103 LRRC56 SOX2 CYP11B1 MAT2A FGF8 DNAAF4 GJA1 DLL1 DNAAF3 FOXE3 SLC12A3 F5 TDGF1 MYH11 NOS3 PAH DNAH11 HP_ABNORMALITY_OF_FRONTAL_SINUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FRONTAL_SINUS DNAI1 SFRP4 COL11A1 NOTCH2 AGA ALX3 KCNJ2 RUNX2 SIX2 CTSK FLNA TRIM37 ATRX ALX1 HP_ABSENT_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FRONTAL_SINUSES CTSK DNAI1 COL11A1 NOTCH2 FLNA TRIM37 ATRX RUNX2 HP_PLATYBASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYBASIA NOTCH2 JMJD1C NID1 FLNB COL1A2 GP1BB ARVCF SEC24C TBX1 NOTCH3 UFD1 COMT COL1A1 HIRA RREB1 SIK3 HP_HYPOPLASTIC_FACIAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FACIAL_BONES NOTCH2 BLM SLC16A2 CEP120 MAP2K1 LIMK1 RFC2 TCOF1 BAZ1B RUNX2 FGFR2 SF3B4 FGFR1 FIG4 OFD1 KRAS GTF2I TWIST2 ALX1 VPS13B TBL2 COL11A1 BRAF NECTIN1 PTCH1 SMOC1 SEMA3E ZMPSTE24 PEPD ELN MAP2K2 GLI2 CHD7 POLR1C DYM LMNA POLR1D GTF2IRD1 CLIP2 HP_ABNORMALITY_OF_THE_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SKULL_BASE ABCC9 MRE11 NPHP3 CEP57 TMEM231 PHGDH ATP6V1A TUBB SMARCC2 FAR1 POMT1 ATP6V0A2 B4GAT1 ARID1B ZIC1 B4GALT1 IFT80 PPP1CB FKRP GPC3 SETBP1 SMARCD1 LARGE1 HYLS1 ANKH DHCR7 RNF113A SMG9 CEP55 B9D2 WDPCP ZBTB20 AMER1 KIF7 COL1A1 COL4A1 CRPPA DOK7 POMGNT2 CDC42 WDR35 CC2D2A DPH1 FKTN NRAS FLNA SOX11 PLG DKK1 TBX15 ZSWIM6 RXYLT1 PIEZO2 TMEM237 SEMA3E PTDSS1 HRAS CHD7 ABAT TRIP13 WASHC5 RFT1 VSX1 TMEM216 WDR34 TBC1D24 MSX2 BUB1B DENND5A CSPP1 ALX4 SLC35A2 POMK NID1 TCTN2 CCDC22 RPGRIP1 CEP120 SOX4 MKS1 FLVCR2 MYOD1 SIX2 ASXL1 GPC4 SMARCE1 TMEM67 WDR60 SUFU KCNQ1OT1 SMARCB1 DAG1 SIK3 WDR81 MYF5 C2CD3 ARID1A DYNC2H1 MIR140 BUB3 TGFB1 CEP290 POMGNT1 PIGN GDF6 NOTCH2 POMT2 KIAA0586 BUB1 CDKN1C PTH1R KLHL7 TMEM138 B9D1 FGFR1 SMARCA4 KRAS GLI3 ATP6V1E1 EBP USP9X SLC18A3 COL1A2 ARID2 MUSK B3GALNT2 NOTCH3 KCNQ1 OFD1 RPGRIP1L PSAT1 IGF2 TMEM107 FTO EVC MAB21L1 EVC2 FGFR2 PMM2 POLR3A WDR73 DPF2 AP1S2 ARMC9 RAPSN NUP88 LBR HP_SCLEROSIS_OF_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_SKULL_BASE FLNA SETBP1 NOTCH3 PTDSS1 AMER1 TGFB1 ANKH LBR SIK3 HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY PTPN11 TWIST1 PIGY PHF21A PIGO RUNX2 ALX4 EXT2 FGFR3 PTCH1 PIGL MSX2 KRAS FGFR2 EP300 PIGW CREBBP PGAP3 RPS19 PTCH2 POLR3A VAC14 PGAP2 FIG4 SUFU PIGV HP_PARIETAL_FORAMINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_FORAMINA MSX2 ALX4 FGFR2 RPS19 TWIST1 EP300 EXT2 PHF21A CREBBP HP_ABNORMALITY_OF_THE_FORAMEN_MAGNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FORAMEN_MAGNUM FGFR3 GPSM2 EP300 FLNA RSPRY1 FLNB RAB23 ALDH18A1 CREBBP RUNX2 HP_LARGE_FORAMEN_MAGNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FORAMEN_MAGNUM GPSM2 EP300 FLNA RAB23 CREBBP RUNX2 HP_ABNORMALITY_OF_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKULL_OSSIFICATION TBCE OSTM1 NOTCH2 LBR PHF21A COL1A2 PPIB INTU RUNX2 LMNA TRIP11 ZMPSTE24 P3H1 FIG4 NAGLU SLC25A19 SGSH EXT2 COL2A1 COL1A1 SEC23A WNT7A CRTAP TAPT1 HDAC6 FGFR2 ALX4 HGSNAT MPL ALPL SLC25A24 FAM111A VCP HHAT ANTXR1 VAC14 ALG9 HP_HIGH_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_NARROW_PALATE ATN1 MPLKIP GNE NOTCH3 ACTA1 FBN1 NONO WNT7A DDX59 SMAD3 MAP2K1 LRP4 FGFR3 MFAP5 GPC3 ARL6 TGFB2 PIGT UBE3B DVL1 MUSK CCDC28B SIN3A SMG9 PEX5 LOX COL12A1 ELN CRKL ANTXR1 PTEN MED25 GTF2H5 GMNN NSD1 FZD2 BMPR1A ERCC3 TGFB3 ORC6 TBCK MCM3AP RUNX2 CNTN1 KANSL1 SMARCA2 BCR SCARF2 VPS13B DIS3L2 SMS DVL3 COL5A1 PIEZO2 TBX1 NAA10 TGFBR1 BRAF TWIST2 ORC4 ERCC2 SPRED1 FIG4 GTF2E2 RNF113A WASHC5 DPM1 KDM5C PTPN11 CCDC22 ACTA2 TARS1 BCOR NIPBL NEB BBS1 KCNK9 WNT5A SMAD4 SLC25A24 GPC4 COL1A1 MAP3K7 PRKG1 SLC6A17 PCLO ERMARD RECQL4 SKI TCTN3 ORC1 CDC45 CDC6 HECW2 RET TGFBR2 KCNJ6 VAC14 APC MAPK1 MYLK CDK10 COL5A2 PTDSS1 INTU CHD3 TAF1 CDT1 COL11A1 MAT2A ATP7A FOXP2 TPM3 ASXL3 ABCC6 IFT122 PEX1 KLHL41 FOXE3 MYH11 ARID2 COL3A1 AMER1 HP_DOWNTURNED_CORNERS_OF_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNTURNED_CORNERS_OF_MOUTH NOTCH2 ABCC8 PIGY CCDC47 CSNK2B CTBP1 RNU4ATAC SMARCD1 MASP1 PDX1 SC5D AFF4 KCNJ11 FOXP1 SMC3 PPP1R15B PIGT NSD2 DVL1 SRCAP KIF15 SNRPN PWAR1 GCK POGZ MED13L ZBTB20 NIPBL KCNMA1 SMC1A STAT3 INS CHRNG ZFP57 FGFRL1 FZD2 COLEC10 HOXB1 TCF20 STAC3 PIGV PIGO CDC42 MEF2C GPC4 COLEC11 MAFB RLIM PIGL INTS1 PACS2 NELFA SETD5 DVL3 UBE2A TELO2 CPLX1 ROR2 HMGA2 NPAP1 MKRN3 BRPF1 DCHS1 TRAPPC9 LMBR1 TRIP12 PIK3R1 TBC1D24 EIF2S3 EBF3 ERF KAT6A TRMT10A EHMT1 NXN CDH11 PACS1 PHF21A WDR4 RAB18 KCNH1 HDAC8 SNORD116-1 WNT5A EXT2 PLAGL1 LETM1 PCLO NTNG2 MIR140 DHX37 PIGW RAD21 POLR3A MBD5 IGF2 PIGA PWRN1 KDM1A KMT2A NDN FBXO11 EEF1A2 TWIST2 WAC HDAC4 HS6ST2 GK FAT4 HYMAI LEMD3 ZSWIM6 HERC2 ALX4 PGAP3 PLOD3 MAGEL2 HNRNPK SON PGAP2 SNORD115-1 HACE1 HP_ADRENAL_OVERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_OVERACTIVITY SCNN1B PRKACA SLC26A3 CLCNKB PDE8B KCNJ5 PDE11A KCNJ1 INSR GNAS MEN1 CYP11B2 KCNJ10 RET SCNN1G CYP11B1 SCNN1A NR3C2 CACNA1D OCRL HTR1A NR3C1 PRKAR1A TP53 CDKN1B CDKN1A SLC12A1 CLCNKA CYP17A1 CDKN2B BSND CYP11A1 SLC12A3 CDKN2C AIRE HP_RECURRENT_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_INFECTIONS RFXANK TBCE DOCK8 CD79A NHEJ1 RAG1 PIK3R1 G6PC3 ELANE IL2RG SRP54 CD81 RPGR PSEN1 TNFRSF13C CD19 RAG2 AICDA EPG5 JAGN1 IKZF1 IFNGR1 DNASE1L3 NCF1 STIM1 GATA2 ISG15 CD79B CIITA SLC37A4 SAMD9 IGLL1 MBL2 C8B GJB2 CFH CFI FERMT3 BTK HBB PSTPIP1 TYK2 RFX5 STAT1 C6 CD40LG HAX1 SMARCD2 WAS CEBPE CYBA PGM3 IL17RA CFD DCLRE1C STK4 IFNGR2 TNFRSF13B ICOS CD8A SH3KBP1 TCIRG1 RFXAP SLC35A1 CR2 CYBB PSENEN IL10RA STAT3 NCF2 ANTXR2 MAN2B1 CTSC SCNN1A MALT1 CXCR4 CD40 MBTPS2 SCNN1G ZAP70 ITGB2 MS4A1 UBE2A LYST CFTR RAB27A IL2RA UNG SLC7A7 IKBKG ATP6AP1 GJB6 IL12RB1 IGHM BLNK PNP C7 C3 CFB SCNN1B ADA AP3B1 GFI1 IRAK4 MYD88 HP_DECREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGA_LEVEL RAG1 MTOR ATM BLM PLCG2 TCN2 CR2 IL2RA BSCL2 UNG CD3D CAVIN1 IL2RG FOS LRBA TNFRSF13C DNMT3B CD247 CD40LG AICDA CSNK2A1 CD19 TNFRSF13B PIGT CD3E JAK3 AGPAT2 CAV1 CD40 PMM2 DCLRE1C RAG2 PPARG CTLA4 ADA ICOS RNF168 HP_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNODEFICIENCY PIK3CA CCDC47 CTBP1 ATRX NHEJ1 BLNK CHD1 CD81 NOP10 IKBKB CD79A TNFRSF13C CD19 AICDA LIG4 IRF2BP2 LAMTOR2 IFNGR1 UNC119 IGHM TTC7A PNP SPATA5 RAG2 PKP1 WRAP53 ADA2 TTC37 FGFRL1 CLCA4 TERT RAG1 HYOU1 LAT TYK2 LRBA NFE2L2 DCTN4 RREB1 CD40LG FRAS1 IKBKG TNFRSF13B CFTR IRAK4 MAN2B1 CTLA4 JAK3 SHANK3 AGL IL21 ICOS PRKDC XRCC4 CARD9 BSCL2 TBCE CTPS1 IL7R ANTXR2 HELLS IL21R MALT1 CD3G AP3D1 CD40 ARVCF MBTPS2 ACP5 PTPRC NFKB2 TFRC MS4A1 MAPK1 MTHFD1 LYST ADA POLE XIAP SDHC DNMT3B UNG BCL11B DOCK2 ORAI1 RTEL1 IL12RB1 TLR3 FOS AK2 IL2RG TRAF3 DCLRE1C SIN3A SLC46A1 LRRC8A AGPAT2 TINF2 IRF7 GP1BB TGFB1 UFD1 PPARG LETM1 CAVIN1 SP110 CD247 RAC2 MMUT TICAM1 KLLN PIK3R1 WIPF1 NFKB1 RBCK1 CORO1A IRF8 STAT1 MEIS2 EPG5 ZBTB24 IKZF1 NSD2 EXTL3 NCF1 STIM1 FOXN1 GATA2 COG6 CRKL ISG15 COMT NPM1 ATM WAS HBB RNF168 RMRP SKIV2L CDCA7 JMJD1C PRPS1 RAB27A CDC42 UROS BCL10 DKC1 FCGR3A HIRA ACTB BCR TNFRSF4 CDH23 SH2D1A CPLX1 CYBA PGM3 SEC23B STK4 TBX1 CD3E CD79B CHD7 ACD IGLL1 TERC IFNGR2 CD28 UNC93B1 STX1A AKT1 TBK1 SMARCAL1 CR2 IL12B IL2RB NCF2 PARN SIK3 SDHB LMNB2 PIK3CD CARD11 FCN3 CAV1 TCF3 CYBB USF3 PTEN MYC TNFSF12 MAGT1 IL2RA LCK CD3D NHP2 SEC24C BTK CUL4B USB1 BUB1B PRKCD CTC1 GATA1 USP8 TNFRSF1B SDHD MYD88 HP_RECURRENT_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ABSCESS_FORMATION SP110 TTC7A CTSC CD3E PSENEN FCN3 PSEN1 CD3D CD247 BTK UBE2A LYST HP_RECURRENT_ASPERGILLUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPERGILLUS_INFECTIONS NCF2 CYBB CYBA STAT1 NCF1 HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS TPP2 C2 FCGR2B C1QB C1QC CTLA4 PTPN22 SPP1 PEPD FAS FASLG SMPD1 TREX1 C3 SERPING1 C1QA CASP10 DNASE1 C1S PRKCD DNASE1L3 DDX41 C8A MASP2 FCGR2A RASGRP1 C4A STAT4 IRAK1 PNP HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS NCF2 RFXAP RFXANK CYBB CIITA CYBA IL17RA RFX5 NCF1 STAT3 HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS RFXANK ZNF341 RFXAP CARD9 CD3D STAT3 IL2RG RFX5 CD247 STAT1 SP110 EPG5 CD3E JAK3 CLEC7A IL17RA DCLRE1C ZAP70 IL17F TFRC CIITA AIRE CARMIL2 HP_FOLLICULAR_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERPLASIA STING1 CASP10 TNFRSF13C CD19 CR2 ICOS FAS TNFRSF13B NRAS FASLG KRAS HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY FOXE1 CASP10 ABCA1 HABP2 DAXX ATRX MINPP1 FAS FASLG PRKCD RASGRP1 SDHD HP_DECREASED_LYMPHOCYTE_APOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_APOPTOSIS CASP10 FAS NRAS FASLG KRAS HP_ABNORMALITY_OF_THE_LYMPH_NODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPH_NODES CYBA RNU4ATAC CBL MINPP1 RAG1 BIRC3 MVK STAT5B AICDA LIG4 CD19 MEFV IL12A-AS1 IFNGR1 CASP10 ATRX ELANE SDHD CD81 RAG2 PML SLC29A3 HABP2 LAT CCR1 LRBA MALT1 GPC3 IL6 CCND1 KLRC4 CD40LG PSTPIP1 WWOX TNFRSF13B PALLD CDKN2A RUNX1 BCOR BRCA2 CTLA4 JAK3 BCL10 ICOS NRAS IRF2BP2 TNFRSF13C FOXE1 CYBC1 BCL6 IRF8 CD28 MCM4 CARD9 TRAC MYD88 BCL2 GINS1 ZBTB16 IL7R PALB2 OTULIN RASGRP1 KRAS FASLG SP110 SMAD4 POMP POU6F2 TNFRSF1A DAXX C4A ATM UBAC2 FAS NOD2 CD40 NUMA1 ACP5 PTPRC ZAP70 PSMB8 RARA TCIRG1 NCF4 LYST ADA TPP2 PTPN22 TNFSF11 XIAP UNG EWSR1 TRIM28 SNX10 FIP1L1 DCLRE1C ASXL1 CLCN7 WT1 SPP1 PNP TSC2 TLR4 NPM1 APOE ABCA1 DLEC1 FOXP3 IL12A PRF1 PSMB9 IL2RG REST TSC1 NFKB1 RBCK1 PRKAR1A NCF2 XRCC4 TET2 HLA-DRB1 DNASE1L3 NCF1 STIM1 NABP1 MS4A1 IL10 ISG15 STAT4 MIF RNF168 RMRP INHBA IL23R DIS3L2 FERMT3 RAB27A ARPC1B ERAP1 FOXP1 STAT3 CALR VPS13A MPL BRCA1 ADAMTS3 TRIP13 TP53 BTNL2 TGFBR2 TBL1XR1 SH2D1A CHD7 GATA2 IRAK1 LCAT CYBB SRSF2 CR2 HLA-B IL2RB JAK2 STING1 SMPD1 NLRP3 RNF6 PRKCD PIK3CD BTK CXCR4 CD70 CCBE1 PSMB4 TNFSF12 H19 ITK IL2RA MYC APOA1 CD27 NFKB2 CASP8 LACC1 TNFRSF1B FAT4 ASAH1 NLRP12 HP_HYPOPLASTIC_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FRONTAL_SINUSES SFRP4 COL11A1 ALX3 AGA FLNA TRIM37 RUNX2 HP_RECURRENT_KLEBSIELLA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_KLEBSIELLA_INFECTIONS NCF2 MBL2 CYBB CYBA NCF1 HP_RECURRENT_ENTEROVIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ENTEROVIRAL_INFECTIONS SP110 RAG1 RAG2 BTK IGHM HP_BILATERAL_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP_AND_PALATE NECTIN1 PTCH1 CDH1 GLI2 YAP1 CTNND1 HP_ORAL_LEUKOPLAKIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_LEUKOPLAKIA ACD KRT17 KRT4 GJB2 TERT KRT6A NHP2 RTEL1 TINF2 KRT16 DKC1 GJB6 PARN NOP10 MEFV USB1 KRT6B CTC1 KRT5 TERC NPM1 WRAP53 KRT14 HP_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RICKETS GATM ENPP1 PHGDH FARSB PHEX CYP2R1 HSD3B7 HRAS STAT6 VDR FAH NAB2 BAAT CTNS SLC34A3 HNF4A PSAT1 CLCN5 OCRL EHHADH ATP7A NRAS ALPL EPHX1 KRAS ADAMTS2 TJP2 RNU4ATAC ABCC6 DMP1 CYP27B1 SLC4A1 FGF23 SLC34A1 HP_OSTEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMALACIA AP2S1 GATM VDR PHGDH PHEX ANTXR2 ENPP1 SLC34A3 PSAT1 CLCN5 CYP2R1 ATP7B OCRL ATP7A ALPL ADAMTS2 RNU4ATAC FGF23 DMP1 SLC4A1 CYP27B1 SLC2A2 HP_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSCOLIOSIS CCN6 SNX14 DLL3 SMS MYO9A NSDHL AIMP1 SLC52A2 PNKP VAMP1 AGRN MPZ PMP22 ACTA1 FBN2 SNAP25 SURF1 ZMPSTE24 TONSL RAB3GAP1 MAP2K1 CLP1 TGFB3 PPP1R15B KRAS COL2A1 ATAD1 HERC1 CHST3 COL12A1 GORAB SLC10A7 SLC26A2 B3GALT6 EGR2 SLC1A2 TUBB3 CLIC2 FUT8 STAC3 LRP5 HRAS NDUFS3 DNMT3A PIEZO2 TTI2 ERCC6 NFIX ATP6V0A2 TPM2 PTCH1 CTDP1 FKBP14 MRPS34 AEBP1 RBM28 SLC5A7 SPG11 SELENON AKT1 TELO2 NAA10 DNA2 BRAF TUBB4A COL1A2 CRLF1 LAMA2 SLC25A1 RSPRY1 FKBP10 POP1 ATRX SETBP1 RYR1 TRMT10A MECP2 MMP2 CDH11 PTPN11 MYL2 CHST14 AIMP2 RAB18 TRPV4 BCOR COL13A1 ELN TCTN3 GDAP1 FKRP MGAT2 IKBKG MLXIPL FKTN SPART POMT1 CHAT ERCC2 ALDH18A1 ATP6V1E1 NUP107 NRAS FBN1 HGSNAT MYH3 POLR3A SLC18A3 NOTCH2 TMEM165 LHX3 SBF2 ACP5 PTCH2 DSTYK H1-4 COG1 CRPPA GZF1 DSE PEX7 WDR45B RAB23 PRX CBS EXTL3 LMNA MAPT HMGB3 KCNA1 KY MESP2 TPM3 HACD1 GNPTAB SOX9 ITGA7 BMP1 FLNA SYT2 HSPG2 FARS2 MAP3K20 JPH1 ACTB RPS6KA3 PMM2 NONO RECQL4 SON MVK B4GALT7 SUFU MEGF8 ERCC1 ARID2 PAPSS2 HP_SPARSE_BONE_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BONE_TRABECULAE VDR SLC34A3 CYP27B1 CYP2R1 CLCN5 HP_THIN_BONY_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_BONY_CORTEX ZMPSTE24 AKT1 FBN1 FARSB CYP2R1 TNFRSF11A LMNA VDR ADAMTS10 TENT5A SLC34A3 CYP27B1 CLCN5 PTH1R HP_OSTEOMYELITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMYELITIS DNMT1 LPIN2 TCIRG1 MTAP SPTLC2 NCF2 BLNK CD79A FOXP3 SCNN1A ATL1 IFNGR1 CTSK NTRK1 NCF1 SLCO2A1 IGHM ITGB2 SCNN1G TCF3 CYBB PIK3R1 IL1RN CCT5 STAT3 CLCN7 HBB PLEKHM1 RETREG1 NGF ATL3 HPGD BTK ATP7A TNFSF11 FLVCR1 LRRC8A CYBA PGM3 MPV17 ANO5 RAB7A CD79B IGLL1 SCNN1B CLTCL1 HP_PATHOLOGIC_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATHOLOGIC_FRACTURE TYROBP LIFR AGXT CHEK2 LRP5 TCIRG1 HNRNPA1 MTAP SLC7A7 GBA SCARB2 GNAS UROS SC5D GK GNPTAB TP53 OCRL ALPL SMPD1 AGA CCND1 TNFRSF11A ATP7B IER3IP1 VCP PLOD3 NOTCH2 RB1 PTH1R B3GALT6 HNRNPA2B1 CTC1 SLC4A1 HP_RECURRENT_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FRACTURES EFEMP2 SMS NOTCH2 CBL CHST3 MINPP1 MTAP NOP10 FGFR1 COL1A1 CLCN5 DCC SOX9 TET2 SOX10 CASR CTSK CA2 KRAS TACR3 PLOD2 PTEN MOGS GORAB NPM1 SQSTM1 TCIRG1 HESX1 IDH2 WRAP53 SLC29A3 STAT3 FGF8 CLCN7 TNFRSF11A WDR11 PLEKHM1 HABP2 CYP2R1 CBS HRAS PRDM5 UROS PPIB FBLN5 GNAS FKBP10 VDR COL1A2 EXT1 WNT1 HS6ST1 ATP7A CDH23 ANOS1 TNFRSF11B IL17RD TNFSF11 CTNND2 DUSP6 SEC24D RUNX1 SLC7A7 ANO5 CYP27B1 CLTCL1 TERC PROK2 FOXE1 SRSF2 TERT IDH1 ZNF687 BSCL2 LRP5 MBTPS2 ELP1 SEMA5A B3GAT3 PROKR2 NSMF FGFR2 P3H1 ANTXR2 YY1AP1 PARN FGF17 NRAS MYH3 CAV1 FZD4 VCP PHEX EXT2 TBCD TRIP11 FGF23 SGMS2 LIFR LEMD3 SEMA3A FLRT3 NHP2 RTEL1 RUNX2 KISS1R SNX10 FOS IFITM5 FN1 TENT5A COL2A1 WNT3A CCDC141 CHD7 ASXL1 EIF2AK3 GLE1 CRTAP OCRL USB1 TAPT1 ALPL SPRY4 AGPAT2 TINF2 CTC1 P4HB DKC1 PPARG DKK1 CAVIN1 SLC34A3 GATA1 FEZF1 USP8 TMEM38B PYCR1 HP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOARTHRITIS CCN6 COL9A3 TNFRSF11B ZNF687 COMP PHEX MATN3 TRPV4 COL2A1 SMAD3 F9 TRPS1 UFSP2 TRAPPC2 COL1A1 MEFV COL5A1 AIP SLC40A1 ATP7B TGFB3 COL9A1 ACAN ASPN FBN1 LMNA MMP13 CANT1 EXT2 GNAS AEBP1 CLCN7 COL5A2 FGFR3 F8 SCARB2 ANKH COL11A2 GDF5 GHR HLA-B EXT1 COL11A1 ZMPSTE24 GBA LMX1B GPR101 FRZB SLC26A2 COL9A2 KIF7 HPGD KIF22 COL3A1 HGD HP_GENERALIZED_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_JOINT_LAXITY TACR3 MSTO1 ATP6V1E1 FGF17 CHST14 ATP6V0A2 PLOD1 ATP6V1A CHD7 GNRH1 FGFR1 MED12 AP4E1 AP4B1 COL5A1 COMP COL5A2 SERPINH1 PROK2 GNRHR FGF8 NSMF WDR11 AP4M1 KISS1 TAC3 LONP1 MCTP2 PROKR2 ANOS1 HS6ST1 COL2A1 C1R KISS1R DUSP6 PUF60 DSE SPRY4 FGFR3 AP4S1 HP_MULTIPLE_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EXOSTOSES EXT2 MSX2 SHOX EXT1 PTPN11 TRPS1 ALX4 HP_ABNORMAL_CARTILAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARTILAGE_MORPHOLOGY TNFRSF11B FGFR2 TWIST1 MGP IDH1 TGIF1 PLCB4 TCOF1 PTPN11 PEX2 KRAS ANKH PEX5 FGFR1 IDH2 PTH1R PUF60 ZBTB20 PTCH1 SLC26A2 F8 TCTN3 FLNB GNAI3 SIX3 POLR1C DDR2 EDN1 POLR1D FGFR3 COL2A1 HGD HP_TRACHEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEAL_STENOSIS RSPO2 MAP3K7 MGP HOXD13 LTBP3 WNT3 FOXI1 DHCR7 FLNB PCNT GRIP1 SLC26A4 FRAS1 FREM2 SMAD4 RMRP KCNJ10 HYLS1 ADAMTSL2 EBP EXTL3 AFF4 COL2A1 IDUA KIF7 FLNA SLC26A2 HP_ABNORMAL_TRACHEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEA_MORPHOLOGY RSPO2 FANCE CYBA WNT3 DHCR7 LIMK1 SOX3 FANCM RFC2 ERCC4 FLNB HAAO PCNT FANCL FGF20 NOP10 AFF4 WNT7A GTF2I RFWD3 TONSL NCF2 SOX9 FGFR2 BMPER MAP3K7 ELN HYLS1 EXTL3 BRIP1 FBN2 FGFR1 COL2A1 CLIP2 HESX1 NPM1 EMC1 SLC26A2 AMER1 ZIC3 WRAP53 MYCN LTBP3 CHD7 RPL5 EHMT1 PDGFRB TCOF1 ERF GMNN DCHS1 NOTCH3 SLC26A4 RAD51C BRCA2 SEMA3E FANCF WDR26 KCNJ10 RAC1 GRIP1 IDS POLR1C TRRAP DDR2 POLR1D ORC6 GLMN KIF22 ORC4 RAB3GAP2 BRCA1 TERC HRAS TRIM2 CYBB CYBC1 MGP HOXD13 FOXI1 TERT ARNT2 FANCG MAD2L2 SLX4 FANCC FRAS1 PARN FAT4 TBL2 OTX2 FREM2 FANCB RMRP PAX3 SNRPB FANCI PRRX1 FANCD2 GREB1L SOX2 FANCA KIF7 NCF4 ITGA8 NCF1 FOXF1 AHDC1 NHP2 BAZ1B RTEL1 PROKR2 HDAC4 XRCC2 SPECC1L SMAD4 UBE2T USB1 TINF2 CTC1 ADAMTSL2 EBP LTBP4 RET GTF2IRD1 DKC1 PALB2 IDUA FLNA RAD51 LBR HP_TRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOMALACIA RPL5 EHMT1 AHDC1 FLNB ERF HAAO GMNN DCHS1 HDAC4 AFF4 FAT4 TONSL SOX9 FGFR2 BMPER PAX3 SNRPB WDR26 PRRX1 RAC1 IDS TRRAP LTBP4 ORC6 COL2A1 KIF22 ORC4 RAB3GAP2 EMC1 SLC26A2 AMER1 HRAS TRIM2 HP_BRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHOMALACIA EHMT1 RAC1 FLNB IDS ERF GMNN LTBP4 ORC6 ORC4 FGFR2 POR SLC26A2 FGFR1 HRAS SOX9 MYRF HP_UPPER_AIRWAY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_AIRWAY_OBSTRUCTION ZSWIM6 BTNL2 F12 SH3BP2 POR AHDC1 GNE HLA-DRB1 KCNJ6 COL11A1 FGFR2 SOX9 FGFR3 HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS RFXANK NKX2-1 RNU4ATAC COL13A1 CD3D CD247 TNFRSF13C GAS8 AICDA WAS NOTCH3 ALB SCNN1A CD19 CD3E ALMS1 EXTL3 NCF1 TK2 CD79B SCNN1G CIITA COL6A2 MED25 GLI3 IGLL1 RNF168 PLOD1 COL11A2 TNFRSF11A RFX5 CD40LG SMARCD2 JAK3 LEP CFTR COLQ RAC1 CYBA PGM3 DDR2 COL6A1 ORC6 DCLRE1C P4HTM CTLA4 TNFRSF13B ICOS PRKDC SETBP1 IL7R CR2 STAT3 MYSM1 NCF2 WDR19 RASGRP1 CTCF COL6A3 CFAP410 FCN3 CXCR4 MASP2 ZAP70 RAG2 TBCD FCGR2A NFKB2 CYBB MTHFD1 LAMA2 EGFR RAG1 TGFB1 UNG USP9X NBN CCDC114 ADA KCNJ6 IGHM BTK GNPTAB PEPD BLNK PNP RFXAP LAMB2 KPTN SCNN1B USB1 POLA1 FMO3 HP_TRACHEOBRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOBRONCHOMALACIA EHMT1 SLC26A2 RAC1 IDS GMNN SOX9 HP_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYPNEA RSPH1 TMEM216 SPAG1 TMEM231 COPA FOXJ1 TMEM237 HLCS MCIDAS FAM149B1 CEP41 TCTN3 GAS2L2 INPP5E CC2D2A DNAH1 PAM16 CCDC151 DNAL1 ARMC9 KIAA0586 PCCB SFTPC CFAP221 TMEM138 DNAAF1 CASR SLC25A15 RPGR RSPH9 STK36 KIF7 DNAH9 CEP120 KIAA0753 CSPP1 OFD1 AHI1 RSPH4A DNAH5 CSF2RA CACNA1S NME8 GAS8 TTC12 B9D1 CEP290 CCDC65 TMEM67 CFAP298 CFAP300 ABCD4 DNAI1 DNAJB13 SPEF2 FARSB MT-CYB CCDC40 TCTN2 HMGCL ZMYND10 PCCA KIAA0556 NEK1 CSF2RB ACADVL RYR1 CCDC39 ARMC4 ACADL NHLRC2 TTC25 SFTPB DNAAF2 DNAI2 ARL3 DRC1 CA5A NEK10 RSPH3 OXCT1 LRRC6 IGHMBP2 DNAAF5 CCNO LRPPRC PIBF1 TCTN1 HYDIN DNAAF6 CPLANE1 CCDC114 CCDC103 LRRC56 DNAAF4 MKS1 ABCA3 ARL13B FBP1 BTD HYLS1 ACAT1 DNAAF3 ACTA2 CEP104 PDE6D ZNF423 RPGRIP1L DNAH11 HP_NEONATAL_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_BREATHING_DYSREGULATION AHI1 CEP290 TMEM216 RPGRIP1L INPP5E HP_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOVENTILATION KLHL41 MECP2 ACTA1 DCTN1 SNORD116-1 FKRP NDUFB8 COL6A3 GDNF SELENON TTN SLC5A7 MYH7 SNRPN PWAR1 SURF1 PHOX2B MOGS SLC52A3 PWRN1 CFL2 DMD COL6A2 NDN LAMA2 LMOD3 NDUFS6 NDUFAF3 TPM2 ASCL1 MYPN RET NEB TPM3 HERC2 COLQ LAMB2 NPAP1 MKRN3 MAGEL2 EDN3 COL6A1 P4HTM SNORD115-1 SCO2 NDUFS2 NDUFAF2 HP_REDUCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VITAL_CAPACITY ACTA1 CRPPA CHRND SCN4A MYL2 RAPSN TTN DOK7 COL13A1 NEB MYPN CHRNE MYH7 PYROXD1 TPM3 TPM2 KLHL41 HACD1 MUSK ITGA7 AK9 SELENON KBTBD13 MAP3K20 MYOT CHRNA1 LRP4 AGRN CHRNB1 VCP HP_ABNORMAL_PATTERN_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATTERN_OF_RESPIRATION TWIST1 RSPH1 CCDC47 NDUFS1 SPAG1 TMEM231 LIPT1 GLRA1 FKRP AFF4 SURF1 FGFR3 TCF4 DNAH1 SLC6A9 NDUFV1 NDUFS8 PLPBP NEB GABRG2 CTSK NADK2 KIAA0586 MLX ECHS1 PWAR1 PCCB MOGS NDUFS7 TMEM138 PRPH DNAAF1 GPR101 LTBP3 SH3BP2 GNA11 DNAH9 CDKL5 DNA2 ACY1 BRAF RSPH4A PET100 NDUFAF2 GAS8 SLC5A7 B9D1 COLQ CCDC65 RARS2 HRAS SCO2 NDUFS2 CEP57 USP7 COQ2 INPP5E COL13A1 ZC4H2 TCTN2 PCCA NEK1 CRYAB CSF2RB C2CD3 ACADVL COL6A3 SKI SFTPB NFIX BUB3 RPGRIP1L KRT5 FLCN ARL3 BCS1L SLC25A20 CA5A RERE DMD NDN TBR1 SELENON LAMA2 IGHMBP2 LRPPRC TNFSF11 TCTN1 NDUFA11 TSEN54 DST FOXRED1 SLC18A3 DNAAF6 ASCL1 CEP290 CISD2 CPLANE1 MYO9A CCDC103 CLCN7 TSPYL1 SOX9 DNAAF4 SDHA AHI1 ARL13B TMEM216 FARS2 MAGEL2 TECPR2 ACAT1 EDN1 ACTA2 CEP104 MT-ND5 CSPP1 LARP7 LIAS SNORD115-1 SLC19A3 TMEM237 RBM10 SCN5A MECP2 FOXJ1 AGRN KCNQ2 SNAP25 GPHN CC2D2A MCCC1 EP300 NDUFA12 DNAL1 ARMC9 SNRPN SFTPC GABRA1 CASR SLC25A15 NDUFS6 FGFR2 RSPH9 TPM2 PLAA CEP120 SUCLG1 PEX5 PCGF2 DMPK MSX1 BTD CEP41 PCK1 CACNA1S SOD1 DKK1 ATP5F1A SYT1 RNF125 WFS1 CREBBP IDS COL6A1 SLC25A1 BUB1B SCN4A DNAI1 GSN DNAJB13 GNAI3 MT-CYB FBP1 COX15 HMGCL NDUFA10 MT-TL1 MT-ND3 ALPL CPT2 MT-TW MTFMT MT-ND6 SLC52A3 PWRN1 CFL2 BUB1 NDUFA2 OXCT1 LRRC6 BRAT1 DNAAF5 CCNO PIBF1 NDUFAF3 PSAP AHDC1 RUNX2 NDUFA4 NGLY1 LRRC56 PDHA1 SLC2A1 SYT2 NDUFA9 LAMB2 PRMT7 DNAAF3 HSPD1 PDE6D DCTN1 IRF6 LIFR SCN2A GBA NALCN KLHL41 NDUFAF6 NEFH CTSD ACTA1 GLUL VAMP1 MCIDAS RANBP2 TRPV4 NDUFB8 TCTN3 RPS6KA3 CTNNB1 NDUFA13 PHOX2B CFAP221 AMER1 GNE LMOD3 KRT14 RPGR STK36 HLCS HSPG2 MYPN CACNA1H NPHP1 OFD1 CSF2RA CHRNE PLCB4 NME8 MT-ND1 BMP2 SLC39A8 NPAP1 TTN TRIP13 GABBR2 CFAP298 P4HTM CFAP300 RET HTRA2 CIZ1 SPEF2 FARSB TMEM107 NRXN1 ZMYND10 TMEM67 KIAA0556 AIP KIF5A NDUFAF5 MT-ATP6 GDNF CCDC39 ARMC4 HLA-B ACADL NHLRC2 MYH7 DNAI2 TCIRG1 NEK10 COX10 SNX10 CHAT TOE1 MKS1 HERC2 NONO ZNF423 TACO1 COPA ATN1 FAM149B1 GAS2L2 PAM16 CCDC151 PIGT NDUFV2 SRPX2 UNC80 GNPTAB TP63 IL12B POGZ ACADSB GRIN2A COL6A2 PTF1A D2HGDH UQCRFS1 NECTIN1 KIF7 KIAA0753 DNAH5 TPM3 TTC12 SLC6A5 MKRN3 PRNP EDN3 JRK IDUA ARCN1 GABRB3 KAT6B ABCD4 CNTNAP2 DPH1 CCDC40 SNORD116-1 PRPS1 NDUFS3 MT-ND4 NDUFS4 PEX13 OPA1 RYR1 TTC25 DNAAF2 MT-TK DRC1 MT-ND2 RSPH3 NACC1 MT-TV HYDIN FBN1 DPAGT1 CCDC114 ABCA3 RAI1 HYLS1 FXR1 COL3A1 DNAH11 HP_FUNCTIONAL_RESPIRATORY_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_RESPIRATORY_ABNORMALITY TWIST1 GLRA1 EDN3 MICOS13 ELP1 IL17F FKRP ARHGAP31 TSFM FGFR3 CRPPA LGI4 DNAH1 UBE3B PLPBP GABRG2 ECHS1 MOGS COL2A1 ASAH1 NDUFS7 TMEM138 SLC52A3 STAT3 PTGER2 GNA11 HCCS RSPH3 SF3B4 GLA WDR35 COL11A2 CCR1 CCR6 GFPT1 NEB NDUFS3 B9D1 CCDC174 FGFR1 SERPINA1 CALR GBA NEK1 ALAS2 MYBPC3 CEP57 MT-TT COQ2 KIT BSCL2 HPS4 CPS1 GNAS TCTN2 PHYH MYH7 C9orf72 GLB1 UNC13A CSF2RB SELENON CHRNG ACADVL PAX8 TREX1 SFTPC CCDC65 ABCG8 SFTPB NFIX BUB3 KRT5 ARL3 FCGR2A F13A1 PLP1 TBR1 IGHMBP2 PEX7 NDUFV1 FLG FOXF1 ORAI1 MPL SFTPA2 MYO9A SOX9 FGF8 SDHA ATXN8OS COLQ TNNI3 MAGEL2 ACTA2 IFT80 UFD1 COL6A3 NDUFAF3 TDGF1 KIAA0586 SNORD115-1 TMEM126B HNRNPA2B1 NDUFS2 ICOS MECP2 PIP5K1C LPIN2 IRF5 FOXJ1 SPG11 WIPF1 COX6B1 HBB PKHD1 FGFR2 COX14 EP300 AIFM1 LFNG DNAL1 BAP1 CUL7 PYGM GABRA1 FKTN HLA-DRB1 WAS DOK7 NDUFS6 IL23R ERCC3 TSEN54 EFTUD2 ITGA3 SMAD4 PEX5 F2 ERLIN2 DMPK BTD ADAR CEP41 PCK1 IFIH1 ATP5F1A FBN1 CCDC40 MRPL3 NEK10 CREBBP DNAI2 SH2B3 PMP22 SLC25A1 ACADM IGLL1 IRAK1 EPOR TPM3 SCN1B UNC93B1 DNAJB6 MT-ND6 RRM2B FBP1 HMGCL MED12 FOXP3 SLC25A3 LARS2 MT-TL1 NODAL POMT1 DYNC2H1 PEX13 ALPL SLC18A3 CHRND NKX2-1 MTFMT CAV1 TGFBR2 NDUFB3 PBX1 RYR1 USP7 SLC26A2 OXCT1 BRAT1 PIGN COL5A2 CFTR XYLT1 TCF4 CCDC114 CYB5R3 BCL11B MMUT DLL1 PRKCD KRT6A PDE6D ASNS COL13A1 ACTA1 MCIDAS DAO NAGS ABCC6 TACO1 LYRM4 COL6A2 HES7 NUP188 MT-TF RPS6KA3 ALMS1 SCN4A CCDC28B MT-ND3 PLOD2 AMER1 PIGT EDA PLOD1 HLCS TBCK IFT52 MYF6 OFD1 PRKCSH RREB1 CHRNE STT3B GLE1 MUC7 WWOX CFAP298 PHOX2B SMPD1 TNPO3 GTF2H5 VMA21 RET TRIM2 USP18 HTRA2 PEX19 NDUFS1 POMK RSPH9 BDNF GALNS MYL1 ZBTB16 COA8 KIF5A WDR60 SP110 RSPH1 CCDC39 ARMC4 HLA-B ABCA3 ACADL POR CNTNAP1 TPI1 MMP21 DISP1 FCSK COX10 LIFR DNAI1 FLNA PTPN22 KYNU MYL3 FLAD1 RTEL1 ASCL1 TRAF3 ASXL1 TOE1 TRAF7 MKS1 COL12A1 TBX4 GP1BB CHRNA1 SBDS SLC12A3 ATN1 PEX11B LIG4 NFKB1 INPP5E VCP TET2 FLNB MFAP5 SLC2A1 MT-TN HADHB NDUFV2 APC CLCNKB MS4A1 LOX FAM20C GRHL2 STAT4 UQCRFS1 TPM2 DISC1 TGFB3 CBS TCOF1 FIG4 SLC34A2 ADAMTS3 NDUFS4 ERBB4 STXBP1 TUBB4A PRNP TMEM67 IDUA CHCHD10 TBX1 LRRC6 PLA2G7 CNTNAP2 DPH1 MPC1 COL11A1 MYL2 TRAIP DCTN1 PRPS1 MT-ND4 SGCG NKX2-5 TTC25 KRT18 FOXRED1 PEX6 POLG NDUFB9 AHDC1 RNASEH2A ETHE1 MT-TV PSAP SLC25A26 AHI1 SMARCE1 ZSWIM6 MAT2A CACNA1D SLC4A1 NDUFB11 RAI1 COL1A1 AMT EXOSC8 CCN2 FAT4 KLHL41 ACAN NUBPL PFN1 DYNC2LI1 TMEM231 CFL2 LIPT1 LBR SUCLA2 PRRX1 CPOX JAK2 RPS28 CD79A AFF4 SURF1 SLC6A9 ARL6 DNM2 NDUFS8 CTSK NADK2 DPM2 MESP2 GNAQ SYNE2 PPARGC1A FUT8 GDNF DNAH9 FAM13A ORC6 RUNX2 CDKL5 ACY1 RSPH4A NDUFAF8 SLC5A7 FHL1 TNFRSF13B MT-TQ PROS1 POLR1D XYLT2 MYH11 NLRP3 AGK RARS2 SYNE1 CYBC1 MTOR FOXI1 TBCD OPTN MYD88 MYMK DOCK6 ZC4H2 DZIP1L OTX2 NDUFB10 SIX3 SCNN1A PLAGL1 SKI AGGF1 RPGRIP1L NOD2 NUMA1 DLL4 CA5A RERE GZF1 NDN SPINK5 LAMA2 HLA-G AGTR1 LRPPRC TGFB1 INPPL1 DST DNAAF6 FOS CPLANE1 PUS3 JPH2 SLC18A2 KAT6A TSPYL1 SPP1 PLEC HLA-DPB1 TMEM216 FARS2 TECPR2 CARD11 CSPP1 CCDC103 MT-TH TMEM237 PEX14 SCN5A IL12A KCNQ2 MMAA CRYAB CC2D2A SRP54 BICD2 SMAD3 NDUFA12 TMEM43 ALAD LMNA NABP1 FLNC GMNN CACNA1S SLC25A15 NEFH COA3 STIM1 SLC25A46 SUCLG1 ACVR1 MTM1 MGME1 CNTN1 TNNC1 SOD1 LAMC2 SYT1 MT-CO1 MFN2 TBL1XR1 NSUN2 ZFPM2 DDR2 LRP4 PRTN3 DPM1 CYBB PCDH19 GAA TARS1 ETFDH COX15 SLC25A24 STX16 AHCY GATA6 RNF6 NDUFA10 RNASEH2C IL17RA TTN BUB1 DAG1 MT-CO2 DNAAF5 COX20 USP9X SPECC1L MPZ EPHA4 CCDC151 SPAG1 PEX2 TERT SCN2A DNAAF1 SON PRKAG2 DPP9 CEP120 IRF6 NALCN CBL SCO1 TRIP4 KLHL7 NDUFAF6 HNRNPA1 ALDH7A1 PGM1 G6PC3 RANBP2 TRPV4 SEC63 EGR2 CPT2 CTNNB1 HADHA COX7B IGHM PET100 GNE GLI3 PML GP1BA LMOD3 HSPG2 RFT1 FBLN5 MYPN SLC27A4 NPPA SLC25A20 CD19 TUFM SCARF2 ZNF148 HIBCH SIK1 SEMA3E MYO1H IFT140 KCNJ10 TGFB2 CHD7 CYB5A GPR101 DOCK8 MATR3 ZIC2 RAPSN SPEF2 MCM4 KIAA0556 SEPTIN9 COQ7 AIP NDUFAF5 ACP5 MORC2 SFTPA1 MAP3K20 BIN1 CARMIL2 GTPBP3 ABCA12 SNX10 HACD1 POMT2 ETFA SLC19A3 HERC2 NOTCH1 TSC2 TRAF3IP2 RIC1 ZNF423 NDUFAF2 VPS33A DRC1 TWNK TICAM1 ENG YARS2 GAS2L2 PRKAR1A LMX1B EMD MMAB SRPX2 CCL11 ATAD1 TK2 PIEZO2 TP63 POGZ LDLRAP1 NRXN1 RNF168 PTF1A KIF7 IBA57 COX4I2 KIAA0753 MUC5B PRPH DNAH5 INVS FRG1 NDUFA2 CEP290 GLS ORC4 GLI2 JRK CRLF1 GYG1 C19orf12 CD79B KAT6B EIF2AK4 SRSF2 KRAS COL6A1 NDUFAF1 KLHL40 VAPB DNAAF2 DES PRRT2 VAC14 PIK3R1 MT-TE DNAJC21 TNFSF12 CDSN PEX3 CDT1 PYROXD1 SCN1A HNMT CLEC7A BCHE MAMLD1 TALDO1 AGRN TRIP11 PGM3 FUCA1 GABRA3 ATRX BLNK PTEN KCNK3 MEFV OSTM1 CTLA4 PON1 BOLA3 MED25 TRAK1 LTBP3 SH3BP2 STN1 BANF1 MCCC2 PEX1 REN FKBP10 DNA2 PROC GAS8 AK9 MEGF10 TNNT1 RUNX1 BCOR AKT1 SLC7A7 HRAS RNF113A SETBP1 IRF2BP2 SLC37A4 PTCH1 PCCA PEX10 COX8A PAX3 THPO F12 DAXX C4A MARS1 PURA FLCN EXOSC9 LRP12 BCS1L VRK1 DMD PEX12 NCF4 TCTN1 NDUFA11 WFS1 WDR19 GMPPB HYMAI SSR4 DNAAF4 OCRL ARL13B ERCC2 SUFU AGPAT2 ATP11A SCNN1B ACAT1 CEP104 MT-ND5 LARP7 LIAS NF2 FAS MYH3 CCNF KCNJ5 LDLR SMO GPHN ARMC9 TREM2 SNRPN CHMP2B COMT KCNN4 ERF PLAA ERAP1 TRMT5 PCGF2 HIRA DKC1 DKK1 TARDBP RNF125 TGFBR1 WDR34 GSN DNAJB13 GNAI3 MT-CYB PARN SCN9A ADAMTS13 ELOVL4 NR2F2 STRA6 PWRN1 RPS26 CCNO AGXT PIBF1 NCF1 CR2 COL1A2 NDUFA4 NFKB2 MMP1 LRRC56 PEPD MTHFR PDHA1 NBN MS4A2 ERBB3 PMM2 HSPD1 BMPR2 CRELD1 GLUL MGP IL17RC NDUFB8 TCTN3 SERPINC1 NGLY1 PEX16 TRAPPC11 NDUFA13 CFAP221 SDHD LAMA3 KRT14 STK36 DSP PIK3CA MT-ND1 SLC26A4 CSF2RA NME8 BMP2 SLC39A8 GABBR2 BTNL2 TNFRSF13C SLC12A6 TMEM107 NFASC PRKG1 MUSK NHLRC2 TRMU TCIRG1 IKBKG ZIC3 ANXA11 GLDC HEXA POLG2 MT-TS2 PCSK9 KRT8 DNAH11 LRP5 PPCS NONO CLPB CAVIN1 PIGA PLCB4 STAT5B STAT1 TBK1 SLC35A1 GNPTAB CHST3 IL12B SPEG RNU4ATAC NPHS1 ACADSB NDUFA6 ZMYND10 GRIN2A IFT81 CHRNB1 NECTIN1 EPHB4 HYDIN PUF60 SMARCB1 SLC6A5 NOS1 NDUFA1 SMAD9 TBC1D24 DLL3 ALOX5 CASR MAP3K7 SNORD116-1 MYOD1 BBS1 MYBPC1 NDUFA9 KCNE3 GPX4 OPA1 EOGT CHAT TSC1 HMBS CTCF VCL MT-TK DDX41 PIEZO1 SMN1 NACC1 GJA1 KIF20A KCNA1 DPAGT1 CASP8 SNRPB HYLS1 UBA1 BAG3 LIPA CCDC47 TNF MPLKIP LAMP2 PLEKHG5 MT-ND2 COG7 SCGB3A2 IL12A-AS1 FOXH1 MLX PWAR1 PCCB CD81 MRPS14 MAPT TRPM4 DBH UFM1 BRAF LRBA TNNT2 KLRC4 HBG2 ACVRL1 IFT172 PLCG2 TBX21 SCO2 LIPT2 TIMMDC1 HLA-DQA1 GAS1 TMEM70 MT-CO3 C2CD3 KIAA0319L COQ4 ARVCF COG1 TGIF1 ATXN1 HABP2 LAMB3 TNFSF11 RBPJ AAAS UBQLN2 GALC NDUFAF4 CISD2 CLCN7 SQSTM1 RNASEH2B SLC25A4 COQ9 NPM1 EDN1 PPARG HLA-DQB1 DLEC1 TTC21B EFEMP2 RBM10 SLC52A2 MCCC1 IL2RG KRT16 SNAP25 NCF2 FOXP1 RNASEH1 ACOX1 PNKD TERC ELN SCNN1G LYRM7 JMJD1C GATA4 MT-TL2 MSX1 NEK9 IDS POLR1C DSC2 BUB1B BMPER MTMR14 CFAP410 IL13 RMRP LTBP4 CDC45 MT-TW CDC6 CCBE1 MYLK ASCC1 KCNJ18 GMPPA SEC24C PDSS1 SYT2 LAMB2 PRMT7 DNAAF3 SLC25A21 NUP88 EOMES RIPPLY2 CYBA CTSD VAMP1 SLC11A1 PON2 CLCF1 CDON INPP5K RPGR ACE SCARB2 CACNA1H NPHP1 APOB IL4R FUS ADNP SAMHD1 PEX26 ADCY6 NPAP1 TRIP13 P4HTM POGLUT1 CFAP300 PON3 GTF2E2 GCSH CIZ1 AIMP2 FARSB NPC2 GLT8D1 MT-ATP6 CYP27A1 IKZF1 UBAC2 ORC1 RARA AGT UBE2A SLC2A10 EXOSC3 PDGFB TLR3 TAF15 KCNJ6 FIP1L1 ISCU SERPING1 ATXN2 ITGA7 HLA-DPA1 LRRC8A SHPK TLR4 MYOT PSAT1 ADA COPA ETFB FAM149B1 PANK2 MID1 MVK GDF2 PAM16 TRPV6 NUP214 GM2A KBTBD13 DNASE1L3 UNC80 ADRB2 IL10 IFNGR1 SHH D2HGDH STAC3 SYCE1 TMEM260 COL5A1 TTC12 MKRN3 ABCG5 ARCN1 ARX SDCCAG8 GABRB3 GATA2 ABCD4 HPS1 KRT17 HMOX1 ANG NAXE SIK3 TCF3 IL1RN GP9 SARS2 CD55 ZMPSTE24 KRT6B FOXE3 NFU1 GUSB FXR1 COL3A1 LARGE1 HP_OSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS MMP2 NOTCH2 VDR CHEK2 IDH1 PDGFRB CEP57 ELMO2 HPGD ELP1 IRF5 HNRNPA1 KRAS CTSK GJB2 FGFR1 MAN2B1 TRPV3 CTSC CAV1 KIF1A SH3PXD2B IDH2 PTH1R APC COL3A1 ZBTB20 TP53 ZMPSTE24 LMNA MBTPS2 BUB3 TNFRSF11A VCP SCN9A ANTXR2 SLCO2A1 PIGL EXT2 RB1 BUB1 SQSTM1 IKBKG IL1RN RETREG1 SLC29A3 CTNNB1 MMP14 PERP ATL3 BANF1 WNK1 SCARB2 MAFB GJB6 NOTCH3 UROS CCR6 EXT1 ATP7A FLNA GBA TRIP13 IFIH1 CCN2 BUB1B HNRNPA2B1 HLA-DRB1 HP_CONGENITAL_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CONTRACTURE MYO9A ITGB4 GLE1 CCDC47 KLHL41 AIMP1 TRIP4 PIP5K1C ACTA1 VAMP1 PDX1 C12orf65 PLEC MYBPC1 AGRN NEB ABCC8 POMT1 ADAT3 PLXND1 FBN2 CHST14 SNAP25 SLC9A6 ERCC6 ALG3 BICD2 FKRP ZNHIT3 SLC6A9 RAPSN ADCY6 KCNJ11 KBTBD13 MUSK TPM3 ATAD1 ITGA6 PLOD2 ERGIC1 ZNF335 GCK COL12A1 ERCC2 CACNA1E GBE1 POMT2 MED13L ECEL1 GLI3 STAT3 SYNE1 KIF14 CHRNG LMOD3 DOK7 ERCC1 ZFP57 CHMP1A CHRNE TPM2 TSEN54 HSPG2 IBA57 SOX10 PIEZO2 DNM2 FKBP10 KLHL40 MYPN FKTN CHRNA1 GFPT1 LGI4 AUTS2 GBA CEP55 SLC5A7 KIF1A NEK9 VIPAS39 RFT1 SLC25A1 CDK5 PI4KA ACADM KAT6B SCYL2 NALCN MYH2 TNNI2 FIG4 TBCD PPP3CA COL13A1 MYOD1 YY1 ZC4H2 KCNK9 ZMPSTE24 CHAT ADGRG6 MYH8 FAM20C PLAGL1 KIF5C INS DHCR24 CAPN3 CNTNAP1 SLC18A3 KIAA1109 GFM2 LARGE1 DPM2 SLC35A3 VRK1 MORC2 CFL2 PRG4 ERCC5 DSE TRPV4 ASCC1 PIGS MYH3 PHGDH VPS33B MAGEL2 PSAT1 HYMAI STAC3 SYT2 TBX4 SHPK ERBB3 REV3L ZBTB42 LMNA UBA1 NUP88 HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA MYO9A ITGB4 GLE1 KLHL41 AIMP1 TRIP4 PIP5K1C ACTA1 VAMP1 PDX1 C12orf65 PLEC MYBPC1 AGRN NEB ABCC8 PLXND1 CHST14 SNAP25 SLC9A6 ERCC6 ALG3 BICD2 ZNHIT3 SLC6A9 RAPSN ADCY6 KCNJ11 KBTBD13 MUSK TPM3 ITGA6 PLOD2 FBN2 ERGIC1 ZNF335 GCK ERCC2 CACNA1E GBE1 ECEL1 STAT3 SYNE1 KIF14 CHRNG LMOD3 DOK7 ERCC1 ZFP57 CHMP1A CHRNE TPM2 HSPG2 IBA57 SOX10 FKBP10 KLHL40 PIEZO2 MYPN CHRNA1 GFPT1 LGI4 AUTS2 GBA CEP55 SLC5A7 KIF1A NEK9 VIPAS39 RFT1 SLC25A1 CDK5 PI4KA KAT6B SCYL2 TNNI2 TBCD PPP3CA COL13A1 MYOD1 ZC4H2 ZMPSTE24 CHAT FAM20C PLAGL1 KIF5C INS DHCR24 CNTNAP1 SLC18A3 KIAA1109 GFM2 SLC35A3 CFL2 ERCC5 DSE TRPV4 MYH8 ASCC1 PIGS MYH3 PHGDH TSEN54 VPS33B MAGEL2 PSAT1 HYMAI STAC3 SYT2 SHPK ERBB3 REV3L LMNA UBA1 NUP88 HP_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSIS SNX14 SMS HACE1 FGFR3 GLE1 SMARCAL1 CTBP1 NPR2 TMEM231 LIMK1 PHF6 MPLKIP FKRP PMP22 KCNAB2 TRAPPC2 FBN2 ARID1B PTEN COMP FOXG1 RAB3GAP1 SOX9 CLP1 ELN CTSK COL1A2 PWAR1 COL2A1 NDUFAF1 EGR2 SLC1A2 MED25 SYNE2 CHRNG CLIC2 FGFRL1 FUT8 MPZ CHST3 RUNX2 PPIB FKBP10 TRPV4 NFIX TPM2 PTCH1 NEB AIFM1 SOX11 KANSL1 AEBP1 ERCC8 PIEZO2 LMNA SLC5A7 TELO2 ROR2 DNA2 COL11A2 B3GALT6 RNF113A SETBP1 SYNE1 MMP2 TFAP2A CCN6 CHST14 BCOR COL13A1 COL6A1 ZC4H2 GLB1 ALDH18A1 COL6A3 NRAS SNRPB AGA MIR140 HGSNAT ATRX DSTYK H1-4 COG1 CRPPA ROBO3 GZF1 NDN DSE PEX7 PTPN11 SKI RAB18 WDR45B SDHC TAF1 SEC24D TBC1D20 MAPT KY WNT3A GNPTAB TBX2 OCRL BMP1 HERC1 EBP SRD5A3 FARS2 JPH1 RPS6KA3 MAGEL2 PMM2 GNAS GTF2IRD1 ACTB DKK1 LETM1 MEGF8 SNORD115-1 NUP88 DLL3 MYO9A ACP5 SLC52A2 RFC2 FLNB AGRN NOTCH3 ERCC6 GTPBP2 ACTA1 SNAP25 ZMPSTE24 TONSL MEIS2 BICD2 FHL1 NSDHL COL1A1 LFNG NSD2 TMEM43 ANKRD11 EXTL3 SNRPN CLIP2 GORAB SIL1 GRIA3 ERCC3 PLAA LRP5 TTI2 MGME1 ATP6V0A2 USP8 ERLIN2 AUTS2 CDKL5 MRPS34 RBM28 AKT1 NELFA SETD5 MFN2 CPLX1 NAA10 IDS DCC PRKAR1A SEC23B SLC25A1 KIF22 ATP6V1B2 ATP7A EZH2 RYR1 DYM IDUA CDH11 SOX4 TOR1A GNPTG TARS1 TRIO SON UFSP2 FKBP14 FKTN SPART SH3PXD2B VPS13B ARID1A ATP6V1E1 PIK3C2A MYH3 AIP SMARCE1 POLR3A SLC18A3 LHX3 SBF2 PTCH2 SLC52A3 PWRN1 XYLT2 CFL2 PPP1R15B USP7 ALDH3A2 COL5A2 RAB23 ARID2 HMGB3 FN1 TPM3 MECP2 SYT2 FLVCR1 GJB1 RECQL4 SDHD P4HB RIPPLY2 CCDC8 PIK3CA DHCR7 KLHL41 KMT2E PNKP VAMP1 SMARCC2 GBA2 SURF1 SHROOM4 ZBTB20 MAPK8IP3 SMARCD1 COL6A2 HES7 TGFB3 SLC26A2 CSF1R ALMS1 KRAS PLOD2 YARS2 RAB3GAP2 WIPI2 CLCF1 SLC10A7 AMER1 GTF2H5 TUBB3 PRDM16 LMOD3 PLOD1 HSPG2 SCARB2 PUS1 CTDP1 WNT1 SELENON EXOC6B LBR COL12A1 NPAP1 MESP2 GPR101 HTT LAMA2 P4HTM RSPRY1 PHF8 GTF2E2 HGD ALG9 TRMT10A NXN TBX5 AIMP2 GALNS RERE TCTN3 P3H1 MAN2B1 IKBKG MLXIPL SMARCB1 NUP107 VPS37A TPI1 TMEM165 MBTPS2 NEU1 BIN1 DVL3 PTDSS1 OBSL1 UPF3B BAZ1B KMT2C SMARCA4 UBA1 HACD1 ITGA7 HERC2 TLK2 L1CAM GBA ABCC6 UBTF NONO MVK ERCC1 NDUFAF4 DPF2 VPS33A CUL4B NOTCH2 CRLF1 AIMP1 KLLN GTF2I EMD LAS1L KLC2 MAP2K1 PIK3R2 ATAD1 SH2B1 STAC3 CBS HRAS NDUFS3 DNMT3A HLA-B COL5A1 TNFRSF11B SPG11 BRAF TUBB4A MKRN3 MBTPS1 ERCC2 POP1 WASHC5 MYL2 CCDC22 SNORD116-1 PRPS1 GDAP1 CUL7 MGAT2 POMT1 CHAT ASXL2 TBL2 POLD1 SDHB FBN1 FA2H CANT1 GABRD RET USF3 BGN PDE11A PRX KCNA1 EIF2AK3 FLNA MAP3K20 TGFB1 B4GALT7 SUFU GUSB PUF60 PAPSS2 FUCA1 WDR81 HP_COXA_VARA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VARA CCN6 TCIRG1 PCNT WNT5A FKBP10 UFSP2 TRAPPC2 SERPINF1 TBX4 COL2A1 TONSL SRP54 CFAP410 FLNB MEGF8 EXT1 DVL1 MMP13 CANT1 AIFM1 TRPV4 COL1A2 PRG4 COL10A1 PEX5 FN1 DNAJC21 FZD2 SLC2A10 EXT2 HSPG2 RUNX2 IHH COL1A1 ATP6V0A2 ENPP1 DDRGK1 DVL3 CRTAP ATP7A RNU4ATAC NKX3-2 ORC6 ADAMTS2 RSPRY1 SBDS DMP1 PCYT1A POP1 RPL13 MATN3 XYLT1 HP_ABNORMALITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_KNEE SHOX GLI3 LIMK1 B4GALT7 KIF7 MMP13 FBN2 ARID1B COMP SLC6A9 ELN SCN1A PWAR1 GABRG2 DYNC2LI1 ADGRV1 CHRNG NSD1 BPNT2 BICD2 CHST3 ORC6 COL2A1 ACAN LGI4 NEB SOX11 EXT1 AEBP1 EVC TELO2 TNFSF11 HRAS COLQ SDHB MCOLN1 GAN NT5C2 PITX1 CCN6 FGD1 RAB33B COL6A1 ESCO2 NF1 MAN2B1 GLB1 BCOR NRAS BRAF MATN3 SKI MIR140 MCTP2 ARVCF ATRX COL9A2 TRPV4 NDN ARSB KRAS RYR1 RAB23 EVC2 SLC18A3 KY PUS3 MYO9A CNTNAP1 WNT7A OCRL SCN1B LMX1B MAGEL2 GTF2IRD1 HS6ST1 UFD1 SDHD FGFR3 ALG14 COL10A1 MEGF8 SNORD115-1 CTC1 AP4B1 PIGY RFC2 SDHAF1 FLNB ACTA1 FKBP10 TBX4 TONSL DPAGT1 EP300 SNRPN CLIP2 COMT TBC1D7 GMNN CLCN7 C19orf12 JMJD1C TPM2 GRIA3 ERCC6 LMBR1 ERLIN2 ENPP1 HIRA STXBP1 PTDSS1 CREBBP DDR2 COL1A2 UGP2 HPGD KIF22 HBB ATP7A EZH2 DYM DPM1 PCDH19 SOX4 GNPTG GABRD B3GAT3 COL5A1 SH3PXD2B SLC26A2 VPS13B SCN9A ARID1A ATP6V1E1 DDRGK1 TCTN3 MYH3 SMARCE1 TGFB1 CPT2 CDC45 CDC6 TBX1 PHEX PWRN1 CFL2 ERMARD TRPS1 UFSP2 USP9X ARID2 RUNX2 SCN2A IHH XYLT1 SEC24C FN1 TPM3 CTNS GFPT1 LAMB2 PRMT7 SMAD3 ASAH1 LIFR GMPPB ERLIN1 NALCN KLHL41 GPC6 RTTN SMARCC2 GLI1 IFT172 AIFM1 EIF2AK3 RECQL4 RBM8A ALG2 SMARCD1 COL6A2 GDF5 SLCO2A1 SLC10A7 RNU4ATAC B3GALT6 TUBB3 LMOD3 CHST11 WASF1 HSPG2 PIEZO2 CANT1 PLOD2 FLNA CTDP1 SCARF2 RREB1 COL11A1 AP4M1 ARFGEF2 SELENON LONP1 SLC39A8 COL12A1 NPAP1 RSPRY1 TRIM2 GABRA1 SFRP4 CYP19A1 VDR GALNS DONSON YY1 TMTC3 IFT57 SMARCB1 APC2 ORC1 EXT2 MAP2K1 BAZ1B PTEN COL9A1 SMARCA4 FLNC HACD1 BHLHA9 ITGA7 HERC2 EBP GP1BB MYOT NEDD4L PSAT1 EFL1 DMP1 RPL13 DPF2 LOXL3 NOTCH2 DYSF ANO5 COL9A3 SRD5A3 SDHA GTF2I PIK3R2 MAP2K2 CA2 UNC80 GNPTAB EXOC6B COG5 ZBTB20 RMRP RETREG1 AP4S1 IARS2 GJB2 CBS HCN1 WNK1 KAT6B RPL10 SLC35A3 SPART ORC4 MKRN3 IDUA NKX3-2 IFIH1 CYP27B1 MYL2 C12orf57 SNORD116-1 FZD2 COL6A3 AP4E1 KIF1A SERPINH1 CDT1 STX1B TBL2 SIK3 PEPD FBN1 ARF1 PTH1R ARL6IP1 ZSWIM6 CYP2R1 ANKLE2 MAP3K20 SETD2 MAP1B TRIP11 GUSB BAG3 HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY CCN6 ABCC9 LIFR FANCE RSPRY1 POLR1A SMARCAL1 CCDC47 RNU4ATAC GLI3 GLB1 TCIRG1 B4GALT7 SMARCC2 TRAPPC2 FANCL ARID1B EIF2AK3 NGLY1 RBM8A RFWD3 COMP CLCN5 SOX9 GPC6 LTBP3 TP53 SETBP1 SMARCD1 TGFB3 SLC26A2 FLNB SHOX COL2A1 GDF5 BRIP1 MMP13 SLC10A7 B3GALT6 COG4 FGFR3 CHD4 FZD2 ENPP1 CHD7 CYP2R1 HSPG2 RUNX2 GLA TRIP11 CANT1 COL11A2 TNFRSF11A PLOD2 ACAN FLNA SOX11 EXT1 SCARF2 DDRGK1 TBX15 IFT140 SEMA3E FANCF ORC6 COL1A1 CYP27B1 ALG12 ATRX PSAP BMPR1B SLC35A2 RAB33B HSPA9 FANCG GALNS GBA SLX4 P3H1 MAN2B1 NFIX GJA1 SMARCB1 EED MEGF8 FANCI MIR140 POR FANCD2 COL11A1 AIFM1 EXT2 KIAA0586 SLC39A13 FANCA MMP9 LMX1B RB1 WDR60 TRPV4 COG1 PRG4 MAPK1 COL10A1 FN1 SLC2A10 RAB23 COL1A2 BHLHA9 EXTL3 FIBP XRCC2 SMARCA4 TENT5A WNT7A TRAF3IP1 CRTAP LRP5 ATP7A UBE2T NEK8 ADAMTSL2 PLOD3 DYM ADAMTS2 COG8 SBDS DMP1 FANCB RPL13 DPF2 CTC1 RAD51 LBR CHEK2 PHEX FANCM ERCC4 INPP5K SIL1 PCNT FKBP10 TBX4 TONSL KIF22 SRP54 FGFR2 TRPV6 EP300 COL9A1 FBN1 DVL1 ANKH PDE4D LMNA PLEKHM1 CHST3 IFNGR1 CRKL GORAB EXOC6B ZBTB16 PEX5 TMEM67 FUCA1 ACVR1 VDR ERCC6 ATP6V0A2 NANS BCR RAD51C PUF60 BRCA2 STXBP1 TRPS1 DVL3 CREBBP KCNJ8 ARCN1 NKX3-2 IFIH1 PCYT1A BRCA1 POP1 ORC1 MATN3 EZH2 POC1A XYLT1 IDUA SOX4 GNPTG RMRP MAD2L2 WNT5A FANCC UFSP2 SERPINF1 MGAT2 ARID1A CFAP410 PIK3C2A SMARCE1 POLR3A RET SGMS2 DNAJC21 CSPP1 BGN ARID2 IHH DYNC2H1 CLCN7 TAPT1 ZMPSTE24 TBXAS1 CDC6 TGFB1 GTF2E2 PALB2 SLC34A3 AGPS RPS6KA3 TMEM38B HP_CAUDAL_APPENDAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDAL_APPENDAGE COLEC11 COLEC10 MASP1 FAT4 DCHS1 TRPV4 HP_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_DISLOCATION CCDC8 KMT2D FANCE HACE1 CCDC47 CTBP1 GLI3 DHCR7 KLHL41 GLRA1 ACTA1 YWHAE MASP1 VAMP1 GPHN PAFAH1B1 FANCL PTEN EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 SOX9 GPC3 SLC6A9 COL6A2 COL1A2 BRIP1 PIGL COL2A1 ATR PORCN RNU4ATAC B3GALT6 NIPBL CHRNG LMOD3 FGFRL1 FUT8 FZD2 ALDH18A1 GSC PUF60 DYM PIEZO2 COLEC11 NFIX NSDHL FLNA NEB KANSL1 AEBP1 TBX15 SLC5A7 UBE3B SELENON TELO2 FANCF EXOC6B LONP1 COL12A1 MYH8 FIG4 SMC3 ALG9 FANCG COL13A1 RYR1 COL6A1 ZC4H2 SLX4 FLI1 PTRH2 GPC4 FKRP FANCB COL6A3 FANCI RAD21 MCTP2 DHODH APC2 EYA1 FANCD2 FANCA TPM2 DSTYK APC SLC2A10 OBSL1 GEMIN4 ATP6V0A2 EXOSC3 MKKS XRCC2 TNNT3 GMPPB HACD1 GNPTAB COL5A2 POMT2 WNT7A ITGA7 OCRL ATP7A UBE2T SMOC1 SMO COL1A1 SMC1A MYH7 ADAMTS2 LETM1 GDF5 ERCC1 PYCR1 RAD51 MYO9A CHST3 FANCM ATP6V1A ERCC4 INPP5K SLC6A5 FLNB SIL1 AGRN GJA1 SNAP25 EIF4A3 PPP2R5D KIF22 BICD2 ATAD1 LRP4 C12orf57 ARNT2 NSD2 DVL1 LMNA CUL7 ECEL1 FBLN1 GORAB SF3B4 IARS2 COLEC10 KAT6B SIX1 RAD51C SLC35A3 BRCA2 AKT1 DVL3 THRA CPLX1 DNAJC21 SLC25A1 IFIH1 BRCA1 CHRM3 CD96 CLTCL1 TPM3 OFD1 SETD5 ZNF469 MYL2 MAP3K7 SMARCAL1 B3GAT3 MAD2L2 WNT5A FANCC KDM6A COL5A1 CHAT GLRB MYH3 SLC18A3 NSD1 IL6ST TBCD VAC14 CFL2 FHL1 KMT2A HOXA11 ATP6V1E1 USP9X PYCR2 ZMPSTE24 MBTPS2 POMT1 SYT2 HSPG2 MAP3K20 SNRPB SETD2 AARS1 RECQL4 HDAC8 PALB2 COL3A1 OSGEP LARGE1 HP_MULTIPLE_JOINT_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_JOINT_CONTRACTURES TGM1 PIP5K1C TARS1 MPLKIP MYOD1 RTTN COL6A2 ZMPSTE24 MYBPC1 FLNA SLC1A4 FKRP FLRT1 TREX1 SELENON RNASEH2C MYH7 LMNA COL6A1 COL12A1 MED12 RYR1 KLC2 GTF2H5 SLC39A14 MYOT DOK7 PIGS VPS11 COL6A3 RFC1 RNASEH2A DNA2 ERCC3 SLC18A3 MUSK GMPPB ADAR RNASEH2B IFIH1 POMT2 POMT1 SAMHD1 ALG14 TTN PMM2 NDE1 ERCC2 UBA1 RBM28 TRIP4 GTF2E2 RAPSN RNF113A GPKOW NUP88 LARGE1 HP_ARTHRALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRALGIA IL2RA CBL LIMK1 TRAPPC2 MVK COMP IL2RB SLCO2A1 MEFV ELN ERCC5 IL12A-AS1 CTLA4 COL2A1 MLX CD81 PTPN22 PIGT CTNNB1 CD247 CHST3 LMNA GLA CCR1 COL11A2 APOB CCR6 CD19 XPC IL6 KLRC4 COL11A1 PSTPIP1 TNFRSF13B GPR101 RUNX1 LPIN2 NOD2 NLRP3 ABCG8 HGD TNFRSF13C HLA-DRB1 SFRP4 MMP2 C1S SEPTIN9 OTULIN AIP HLA-B MATN3 ASPN POMP TNFRSF1A C4A SLC40A1 UBAC2 PSMB8 ANKRD55 PLCG2 BAZ1B PCSK9 COL9A1 HFE ASXL1 SPP1 TREX1 HLA-DPB1 F8 HLA-DPA1 MPL TLR4 GTF2IRD1 SLC12A3 FAS TYROBP TREM2 NOTCH2 IL12A ICOS PHEX COPA RFC2 HPGD NLRC4 IRF5 LDLR PSMB9 NFKB1 CAV1 GTF2I XPA ERCC3 TET2 VCP ATP7B CLCNKB MS4A1 IL10 CLIP2 IL12B MSMO1 PTPN2 STAT4 DSE LDLRAP1 MIF IL23R ERAP1 MAFB RNU4ATAC ABCG5 HBB IRAK1 EPOR PRTN3 COL9A2 TNFRSF11B SRSF2 GNPTG STING1 DDB2 TRPS1 SLC26A2 APC TBL2 LMNB2 HMBS PRKCD MYH3 ERCC2 PSMB4 IL1RN PTH1R UFSP2 TNFSF12 LEMD3 TNXB CR2 CPOX ANKH MFN2 NFKB2 COL9A3 LACC1 ERCC4 FTL CCN2 ASAH1 JAK2 NLRP12 HP_CALCIFIC_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFIC_STIPPLING PEX5 GNPAT EBP HSD17B4 PEX2 HP_ASPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION GM2A ADNP HEXA ATXN8OS MATR3 GLRA1 SPECC1L LRP12 SYCE1 MID1 GPHN LAMA2 HP_RECURRENT_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHITIS TNFSF12 ATM CD79A CR2 ICOS TAP1 TAPBP MGP NBN NFKB2 TNFRSF13C RPGR CD19 HYDIN NFKB1 GNPTAB GAS8 PRKCD IL17RA TNFRSF13B MS4A1 DNAAF1 CD79B CD81 IL2RG TAP2 EGFR HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION ZFYVE26 AP5Z1 HSPD1 HNRNPA1 GJC2 NIPA1 REEP2 SPAST FMR1 SPG7 ATXN3 ATXN1 SPG11 WWOX ATL1 KIF5A FXN KIF1A PIK3R5 VCP WASHC5 ATXN2 ABCD1 GBE1 RTN2 HNRNPA2B1 SETX HP_LYMPHADENITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHADENITIS NCF2 RAG1 ZAP70 RAG2 CYBB CYBA CXCR4 NCF1 HP_RECURRENT_FUNGAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FUNGAL_INFECTIONS RFXANK ZNF341 IL7R DOCK8 RFXAP SPIB CARD9 CD3D RAG1 STAT3 NCF2 IL2RG CD247 STAT1 IL12RB1 TRAF3IP2 RAG2 SP110 EPG5 CD3E CLEC7A IKBKB NCF1 SLC39A4 ZAP70 GATA2 SDR9C7 IL17F MMEL1 TFRC CIITA DCLRE1C CYBB AIRE CARMIL2 IRF5 IL2RA POU2AF1 TYK2 RFX5 BTD IL17RC TNPO3 CDH23 JAK3 TNFSF15 CYBA PGM3 IL17RA STK4 ADA USP8 IL12A HP_ABNORMAL_T_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_MORPHOLOGY IL7R DOCK8 RFXAP SMARCAL1 LEPR CD3D NHEJ1 IL2RG RAG2 RASGRP1 CD247 FOXP3 FASLG CD3G SP110 CASP10 EPG5 PIK3CD CD3E RFXANK EXTL3 FAS FOXN1 ACP5 PTPRC ZAP70 RAG1 PNP CIITA MAGT1 ATM IL2RA MYC LCK HLA-DRB1 NBN ADA DNMT3B CD4 LEP WIPF1 BTNL2 JAK3 PGM3 RFX5 PRKCD DCLRE1C CD8A HP_ABNORMAL_B_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_B_CELL_MORPHOLOGY SP110 RAG1 CASP10 RAG2 RASGRP1 PIK3CD TBX2 FAS PRKCD FASLG HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL WAS RASGRP1 CASP10 FAS PRKCD FASLG HP_DECREASED_CIRCULATING_TOTAL_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGM RAG1 BLM PLCG2 TCN2 CR2 LRBA TNFRSF13C FAS FASLG WAS CD19 LAMTOR2 PIGT JAK3 CARD11 CASP10 EXTL3 PRKCD CNBP RAG2 RASGRP1 CTLA4 ADA ICOS TNFRSF13B RNF168 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 CASP10 RASGRP1 FAS FASLG PRKCD HP_GENU_VALGUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VALGUM SHOX LOXL3 KLHL41 CHST3 LIMK1 RFC2 ACTA1 COL9A3 GLI1 KIF7 IFT172 EIF2AK3 GTF2I COMP TONSL KIF22 OCRL ELN EXT1 MAP2K2 CA2 SNRPN PWAR1 COL2A1 CLIP2 SLC10A7 COG5 ZBTB20 SLC26A2 B3GALT6 DYNC2LI1 TUBB3 LMOD3 CLCN7 COL9A1 NSD1 BPNT2 IARS2 ENPP1 EXT2 TPM2 CBS TRPV4 DYM HSPG2 ACAN NEB VPS13B COL11A1 EVC SPART TNFSF11 LONP1 NPAP1 MKRN3 COL1A2 IDUA UGP2 NKX3-2 IFIH1 RSPRY1 HBB GAN ATP7A ORC1 MATN3 COL9A2 SFRP4 CYP19A1 VDR RAB33B GNPTG GALNS B3GAT3 SNORD116-1 NF1 MAN2B1 KRAS IFT57 GLB1 SERPINH1 BCOR TBL2 BRAF PEPD SKI MCTP2 TGFB1 APC2 NOTCH2 ATRX PWRN1 CFL2 NDN TRPS1 ARSB LIFR FLNA RAB23 MAP2K1 BAZ1B RUNX2 EVC2 FBN1 FN1 CTNS PUS3 MMP13 HERC2 MAGEL2 SETD2 GTF2IRD1 HS6ST1 MEGF8 SNORD115-1 GUSB CTC1 HP_MENINGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGIOMA AKT1 MN1 PIK3CA NTHL1 BAP1 PTEN NF2 TERT CHEK2 KLLN SMO NF1 GNAS WRN SDHB USF3 SDHC PDCD10 PDGFB SUFU CCM2 SMARCE1 NRAS SMARCB1 ARMC5 TRAF7 KRIT1 LMNA SEC23B SDHD HP_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOSARCOMA MC1R PTCH1 PAX7 CEP57 SLC22A18 NBN KEAP1 DICER1 NF1 PAX3 MLH1 NRAS BUB1B BUB3 TRIP13 MSH6 FOXO1 PMS2 BUB1 HRAS MSH2 HP_SQUAMOUS_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA ERCC5 BLM DOCK8 KRT5 XPC MVD PSENEN TARS1 MPLKIP NLRP1 OCA2 GJB2 TYR SASH1 COL7A1 CTSC TERT WRN STAT1 TINF2 BRD4 ERCC3 WWOX MC1R TERC RECQL4 NUTM1 FERMT1 NTHL1 CIB1 POLH LAMA3 GTF2H5 SLC17A9 FDPS TMC8 KRT14 DDB2 LAMB3 GJB6 WNT10A ING1 DKC1 MMP1 RNF6 RSPO1 SLC45A2 LAMC2 DCC SLX4 CDKN2A ERCC2 ERCC4 TNFRSF10B LMNA LZTS1 MVK TMC6 WRAP53 TGFBR2 GTF2E2 RNF113A IL7 HP_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOMA CHEK2 MC1R GNA11 BAP1 ERCC5 XPC NRAS PIK3CA CDKN2A SF3B1 OCA2 KLLN TERT RAD50 RAF1 XPA RAD51C ERCC3 ACD CYSLTR2 PTPN11 CDK4 MRE11 HRAS DDB2 BRIP1 DMPK BRCA1 TP53 SLC45A2 BARD1 ERCC2 PALLD SEC23B NBN MITF BRCA2 RAD51 AKT1 RNF43 GNAQ PALB2 MGMT TYR TRPV3 CTSC RAD51D WRN KRAS SDHB SLC6A17 SMAD4 ERCC6 BRAF MBTPS2 CXCR4 POT1 POLH USF3 PTEN CDKN2B SDHC PERP TERF2IP MDM2 ERCC4 SDHD HP_MYELODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELODYSPLASIA FANCE TCIRG1 HSPA9 CEP57 FANCG FANCM ATRX ERCC4 GATA2 GINS1 TET2 MYSM1 MAD2L2 SLX4 ELANE JAK2 KIT FANCC FANCL SRP54 RAF1 TERT RFWD3 TINF2 FANCI NBEAL2 BRAF BUB3 FANCD2 PTPN11 SF3B1 DDX41 BRIP1 ERBB3 TERC FANCA RECQL4 BUB1 SAMD9 THPO LIG4 RPS14 DNAJC21 GFI1B SH2B3 SRSF2 XRCC2 ASXL1 MPL DKC1 RAD51C BRCA2 HAX1 SMARCD2 UBE2T RUNX1 FANCF TRIP13 SRP72 SBDS RPS19 TP53 PALB2 NAGS BRCA1 FANCB BUB1B PIGA CALR EFL1 GFI1 RAD51 HP_HYPOPLASTIC_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIAC_WING RUNX2 PCNT ERCC6 CCBE1 GATA1 TRAPPC2 TBX15 ERCC8 SOX9 WNT7A SMAD4 EED EP300 HDAC6 COL2A1 CREBBP EVC EVC2 IHH EZH2 DYM ARSB HP_ABNORMALITY_OF_THE_ILIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ILIUM LIFR SLC35D1 ACP5 FLNB PCNT ERCC6 GATA1 INPPL1 TRAPPC2 GPC4 FGFR3 EIF2AK3 SOX9 ZBTB20 PAM16 EP300 RPS6KA3 MATN3 COL2A1 EXTL3 RNU4ATAC GPX4 B3GALT6 SEC23A IFT81 SMAD4 VANGL1 DYM RUNX2 FLNA NANS ENPP1 HLA-B ERCC8 PTH1R TBX15 EXOC6B LONP1 CREBBP HDAC6 DDR2 NKX3-2 KAT6B PCYT1A POP1 EZH2 MMP13 IDUA VPS33A CEP120 GNPTG GALNS FUZ RMRP MAN2B1 GLB1 EED DDRGK1 TNFRSF1A PIGN POLR3A COL11A1 AIFM1 LMX1B AEBP1 SLC26A2 ARSB WDR19 BGN RAB23 TWIST2 SEC24D IHH CCBE1 COL11A2 GNPTAB WNT7A ATP7A EVC EVC2 RPS19 GPC3 DMP1 TRIP11 AMER1 HP_NARROW_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_ILIAC_WINGS ZBTB20 NANS RPS6KA3 SEC23A EIF2AK3 MATN3 SEC24D COL2A1 HP_FLARED_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_ILIAC_WINGS IDUA BGN EP300 RAB23 VPS33A GNPTG CREBBP GLB1 IHH DDR2 AIFM1 GPC4 GPC3 FLNA GPX4 TRIP11 B3GALT6 GNPTAB ARSB MMP13 HP_OBSTRUCTIVE_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_SLEEP_APNEA MYO9A AHDC1 NALCN CCDC47 SH3BP2 DNA2 PLCB4 ATN1 VAMP1 COL13A1 AGRN PCGF2 TRPV4 FGFR3 SNAP25 DMPK NGLY1 CHAT SKI SLC5A7 EP300 PIGT SYT2 BMP2 NFIX CREBBP GNAI3 IDS SLC18A3 UNC80 GNPTAB EDN1 IDUA ARCN1 NONO SLC25A1 POGZ HRAS FXR1 HP_CENTRAL_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_APNEA SYT1 SLC2A1 PSAP TMEM216 WFS1 TSEN54 TECPR2 AHI1 CEP290 CISD2 TBR1 RPGRIP1L INPP5E FGFR3 HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS MYO9A SLC5A7 SYT2 VAMP1 COL13A1 SLC18A3 AGRN SLC25A1 CHAT SNAP25 CHRNE PDHA1 HP_EXERTIONAL_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERTIONAL_DYSPNEA CYB5R3 SFTPA2 JAK2 SCO1 TWNK COX6B1 SH2B3 STAT5B PRKAR1A SMAD3 COX14 TACO1 MFAP5 NEB NABP1 LOX TERC GATA6 SFTPC ELN PYGM RRM2B PET100 CHRNB1 PML COA3 GATA4 TGFB3 FAM13A STN1 DSP TRMT5 STAT3 DNA2 MUC5B TERT CHRNE FBN1 AK9 TBL1XR1 TGFBR1 COLQ TGFB2 COX10 BCOR GYG1 MYH11 ACADM LRP4 EPOR IRF2BP2 CHRND SCN4A RAPSN ACTA2 ZBTB16 PARN SMAD4 COA8 PRKG1 MUSK COX8A ABCA3 CYB5A NR2F2 NUMA1 TGFBR2 RARA SFTPA1 MYLK POLG COX20 DOK7 POLG2 MYL3 COL13A1 RTEL1 FIP1L1 MAT2A PLEC MT-TN LAMB2 NPM1 ATP11A CHRNA1 SLC25A4 FOXE3 DPP9 AGRN TET2 CRELD1 HP_EPISODIC_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_TACHYPNEA PIBF1 KIF7 TCTN1 TMEM216 CEP120 OFD1 KIAA0753 TCTN2 CSPP1 FAM149B1 KIAA0556 AHI1 CEP290 CPLANE1 CEP41 TCTN3 INPP5E MKS1 ACADVL B9D1 ARL13B FBP1 ARMC9 HYLS1 TMEM67 CEP104 ARL3 PDE6D KIAA0586 RPGRIP1L TMEM237 HP_NOCTURNAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURNAL_HYPOVENTILATION COL6A3 SELENON TTN TPM2 KLHL41 ACTA1 MYH7 FKRP COL6A1 SLC52A3 CFL2 NEB COL6A2 LMOD3 HP_RESPIRATORY_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE PFN1 GLE1 NKX2-1 CTSD MICOS13 BSCL2 TSC2 DAO TRPV4 NDUFB8 ACTA1 SURF1 TSFM KLHL41 BICD2 NDUFAF3 DCTN1 SLC6A9 COL6A2 TBK1 NUP188 OSTM1 HADHB UBE3B PON2 PON1 TREM2 ATAD1 SDHA TK2 HADHA COX7B RNU4ATAC BOLA3 FAM20C LAMA3 LYRM7 CHRNB1 IFT81 PPARGC1A GMNN RNF168 LMOD3 LTBP3 NEFH HNRNPA1 SOD1 TSEN54 ORC6 IBA57 HCCS FIG4 SLC25A46 SUCLG1 NEB KLHL40 ACVR1 CHRNE PRPH COX15 DMPK TUFM INVS VCP LAMC2 TARDBP FUS POMT2 AK9 MEGF10 NDUFB11 COL12A1 GLS ORC4 CHCHD10 MATR3 GATA2 LRP4 PON3 HRAS SCO2 NDUFS2 NEK1 HTRA2 CHRND SCN4A RAPSN MCM4 NPC2 OPTN COL6A1 COL6A3 CRYAB CHMP2B AHCY ANG C9orf72 FKRP MUSK TSC1 GLT8D1 VAPB CFAP410 UNC13A TMEM70 NAXE FLNA TTN SFTPB CPT2 ORC1 CDC45 CDC6 BCS1L TBCD DMD DAG1 PEX6 SMN1 ANXA11 LAMA2 COX10 ATXN1 RYR1 IGHMBP2 ASCC1 SLC2A10 LAMB3 GTPBP3 PSAP DOK7 COL13A1 ERBB4 UBQLN2 GALC NDUFS4 SLC25A26 TAF15 CDT1 GMPPB MGME1 SQSTM1 SARS2 EPHA4 ATXN2 SMAD4 ABCA3 NBN POMT1 TPM3 ERBB3 BCHE EXOSC8 MYOT CHRNA1 SON CLPB NFU1 AGRN MTM1 NDUFAF2 CCNF LARGE1 HP_ANISOSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOSPONDYLY COL2A1 HSPG2 MIR140 FLNA TRPV4 HP_SUDDEN_EPISODIC_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_EPISODIC_APNEA MYO9A SLC5A7 SYT2 SLC39A8 FARS2 VAMP1 COL13A1 SLC18A3 AGRN SLC25A1 SLC25A20 CHAT SNAP25 CHRNE HP_HYPERVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERVENTILATION CIZ1 UQCRFS1 FBP1 CDKL5 HLCS MT-TV SUCLG1 NRXN1 CACNA1H TCF4 MT-ND4 GABRG2 CNTNAP2 BTD MECP2 CPLANE1 MT-TL1 SYT1 MT-ATP6 MT-ND1 SLC2A1 MT-ND3 MT-TK GABBR2 JRK MT-TW MT-ND5 GABRB3 MT-ND6 MT-ND2 GABRA1 HP_HEPATOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOBLASTOMA IGF2 TTC37 SLC37A4 GPC3 SKIV2L SETBP1 APC KCNQ1 GPC4 CDKN1C KCNQ1OT1 HP_MEDULLOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDULLOBLASTOMA PALB2 PTCH1 APC PTCH2 BRCA2 CTNNB1 SUFU MSH6 NBN KEAP1 DICER1 PMS2 SMARCB1 MLH1 MSH2 HP_EPENDYMOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPENDYMOMA TSC1 TSC2 RELA MSH6 ERBB2 PMS2 IDH1 NF2 APC C11orf95 IFNG TP53 SETBP1 MLH1 MSH2 HP_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_CARCINOMA FOXE1 AKT1 JAG1 FOXI1 PIK3CA MINPP1 KLLN BMPR1A KEAP1 GREM1 APC RET WRN NKX2-1 FASLG SDHB PTEN PRKAR1A SLC26A4 NRAS SRGAP1 CASP10 FAS CDC73 RASGRP1 USF3 HABP2 SDHC HRAS DICER1 KCNJ10 DMPK FLCN PRKCD SEC23B TG SDHD HP_PITUITARY_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_ADENOMA AIP GPR101 SEMA4A IDH1 KRAS BICC1 GNAS TSC2 MEN1 PKD2 USP8 MLH3 MSH2 APC GANAB PMS2 TSC1 TGFBR2 BMPR1A EPCAM CDH23 PRKAR1A MSH6 CDKN1B PMS1 CDKN1A PKD1 CDKN2B PIK3CA RPS20 CDKN2C FAN1 IDH2 MLH1 HP_NEOPLASM_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PANCREAS CHEK2 STK11 CDC73 BAP1 CDKN2A APC TERT RAD50 SPINK1 NOP10 PMS2 RAD51C BMPR1A FLI1 EPCAM ACD CLCNKB NUTM1 CDK4 NTHL1 NPM1 VHL MRE11 WRAP53 CDKN1B TP53 PDGFRB BRIP1 NOTCH3 MLH3 MSH2 WT1 BRCA1 BARD1 MSH6 KRAS PMS1 PALLD NBN MITF TERC MEN1 BRCA2 RAD51 MLH1 AAGAB RNF43 COL14A1 CCND1 MC1R PALB2 MGMT RAD51D PARN TGFBR2 BRD4 SMAD4 MAFA PRKAR1A RPS20 SEMA4A CDKN2B NHP2 RTEL1 EWSR1 TERF2IP POT1 MDM2 USB1 GCGR TINF2 CTC1 CDKN1A PIK3CA DKC1 SLC12A3 CDKN2C FAN1 PTEN HP_PAPILLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_THYROID_CARCINOMA FOXE1 APC DICER1 JAG1 HABP2 MINPP1 NKX2-1 SEC23B HP_NEOPLASM_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LIVER JAG1 SPIB MLH1 MET PDX1 JAK2 FAH NAB2 HNF1A APC REST INPP5E SLC25A13 HBB SPRTN PMS2 BMPR1A KLF11 EPCAM ATP7B GPC3 SETBP1 IGF2R HFE CASP10 RELA PIK3CA TJP2 RASGRP1 GPR35 SLC37A4 TTC37 SKIV2L G6PC DIS3L2 POU2AF1 STAT6 NEUROD1 MLH3 MSH2 BRCA1 TRIP13 TP53 ABCB11 BLK MSH6 CTNNB1 PMS1 AXIN1 PALLD CC2D2A TCF4 CDKN2A BRCA2 SERPINA1 INS IL12A APPL1 KRAS BMP2 PHKG2 TMEM67 PALB2 PAX4 GPC4 AHCY KCNJ11 C11orf95 TGFBR2 KCNQ1OT1 IL12RB1 FASLG HMBS SMAD4 PRKAR1A SMPD1 POU6F2 RPGRIP1L FAS IGF2 CEL HNF4A MMEL1 RPS20 CDKN1C MST1 PHKA2 H19 PYGL IRF5 SEMA4A UROD TRIM28 KCNQ1 F5 WT1 TNPO3 CASP8 GCK PDGFRL TNFSF15 ABCC8 PRKCD FAN1 HP_EMBRYONAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_NEOPLASM WT1 CDC73 CEP57 MNX1 SLC22A18 APC REST CHEK2 GPC4 KIT BMPER GPC3 SETBP1 DIS3L2 MAP3K1 ZFPM2 WWOX H19 VAMP7 IGF2 PALB2 TTC37 NSD1 PTCH1 SKIV2L TP53 DHX37 STK11 TRIP13 MSH3 PAX6 SOX9 BRCA2 FIBP BUB1B TRIM37 SLC37A4 RB1 PIK3CA PHF21A NR5A1 DICER1 EXT2 FGFR3 SRY KCNQ1OT1 POU6F2 BUB3 APC2 NR0B1 DMRT3 BUB1 CDKN1C BCL10 HDAC4 TRIM28 KCNQ1 GATA4 ALX4 SETD2 HP_HYPOKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIA KCNE2 SCN4A GATM SLC12A3 CLCNKB SCN10A KCNJ1 INSR CAV3 KCNE3 BMPR1A CLCN2 CACNA1S KCNJ5 NR3C1 KCNJ2 CTNS AIP SCN4B SLC12A1 CLCNKA AKAP9 CASR SLC4A1 SNTA1 HSD11B2 SLC2A2 CACNA1C SCNN1B SLC26A3 KCNH2 FXYD2 SCNN1G KCNJ18 SCNN1A CDH23 USP8 CYP11B2 KCNJ10 KCNQ1 CYP11B1 CACNA1D OCRL TP53 KCNE1 CALM2 ATP1A1 ANK2 NOS1AP TRDN SMAD4 CALM1 CYP17A1 SCN5A BSND CLDN10 MAGED2 COL3A1 GABRA3 HP_HYPOCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIA TBCE SEMA3E VDR CAV1 ESS2 FARSB GNAS PRKAR1A PLVAP GCM2 STX16 PDE4D FOXP3 ACADVL RMRP CSF1R OSTM1 PIK3C2A DGCR2 GNAS-AS1 ARVCF CLCNKB HADHA ORAI1 TBX1 CCBE1 FAM111A COMT TCIRG1 CASR DGCR6 SLC4A1 GATA3 CLCN7 JMJD1C GNA11 TNFSF11 CHD7 TRPM6 UBR1 SEC24C TNFRSF11A PPM1B SNX10 PTH HIRA ADAMTS3 BTK RREB1 CYP2R1 DGCR8 SLC3A1 HADHB IFT122 GP1BB PREPL UFD1 FAT4 SLC12A3 CYP27B1 ALG12 CACNA1C CAMKMT HP_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERBILIRUBINEMIA GSR UGT1A1 G6PD SPIB PRF1 HSD3B7 GPC1 PKLR SPTB SLCO1B3 SLC17A5 PEX19 SC5D EPB42 PFKM SEC63 ANK1 CASK PGK1 KCNN4 ALDOB LIPT1 IL12RB1 SLC30A10 KIF23 PAX8 SLC4A1 SPTA1 OSTM1 DGUOK IGF1 CPT2 HK1 RFX6 ADK ABCC2 COG6 MMEL1 PIEZO1 SLCO1B1 UBE2A POMC POLG2 EPB41 HBB IRF5 POU2AF1 LBR VPS33B PRKCSH TRMU RHAG FH GPX1 TNPO3 LRP5 SLC25A13 ABCB11 FBP1 KLF1 AKR1D1 VIPAS39 ATP8B1 GYPC GLRX5 TNFSF15 AMACR SLC2A1 IL12A WDR35 HP_HYPERPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHOSPHATEMIA GNAS TBCE GNA11 PGAP2 PRKAR1A GALNT3 GCM2 STX16 PDE4D PTH CACNA1S RYR1 ZMPSTE24 TNFRSF11B GNAS-AS1 FAM111A LMNA CASR HP_MICROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROSCOPIC_HEMATURIA LMNB2 F2 ADAMTS13 LPIN2 CLCN5 COL4A5 ACSL4 KCNE5 NUP85 AMMECR1 FN1 LMX1B CTNS HP_CONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUGATED_HYPERBILIRUBINEMIA ABCB11 SLCO1B1 IRF5 SPIB POU2AF1 VIPAS39 ATP8B1 VPS33B GLRX5 TNFSF15 GPC1 SLCO1B3 ABCC2 SLC17A5 SLC2A1 MMEL1 IL12A TNPO3 IL12RB1 HP_GENERALIZED_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMINOACIDURIA CTNS DGUOK FAH CYP27B1 SLC34A1 NGLY1 ETFDH ETFA ETFB CYP2R1 SLC2A2 HP_ELEVATED_HEPATIC_TRANSAMINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEPATIC_TRANSAMINASE GDF2 MICOS13 CPT2 IFT172 PGM1 FAN1 PHKA2 PEX19 SLC25A13 DMD SLC22A5 NGLY1 POLG RNASEH2C COG7 ALG11 ALMS1 TREX1 ATRX CC2D2A DPM2 LHX1 RRM2B GPR35 SDHD CD81 HNF4A ADA2 TYMP MRPL44 HAMP COG8 RNASEH2A HADH HFE ABCB4 SLC25A20 CD19 POLG2 COG4 PHKG2 SRD5A3 CYC1 HNF1B SAMHD1 AKR1D1 C1QBP TNFRSF13B PALLD HLA-B TCF4 CDKN2A MPV17 SERPINA1 ACOX1 USP18 CFI TNFRSF13C ALAS2 SLC35A2 MRPS16 DLD FARSB BSCL2 HSD3B7 NRXN1 TMEM67 PALB2 AGL GYS2 OCLN ALDOB KRAS FLT1 SLC30A10 ASL SP110 ACADVL GPD1 SMAD4 DAXX CORIN IKZF1 RPGRIP1L LARS1 MARS1 TMEM165 RAG2 KIAA0586 PSMB8 MST1 PNPLA2 TRAPPC11 RAG1 NBAS TFR2 VPS33B F5 NSMCE2 CYP7B1 ABCD3 ATP6AP1 FOS ABHD5 OFD1 NR1H4 RNASEH2B FBP1 DHDDS SRP54 AGPAT2 GLRX5 IER3IP1 ACAD9 HSD17B4 PMM2 CLPB PPARG SBDS CAVIN1 MVK PYGL DPM3 TANGO2 JAG1 MYH9 ATP8B1 ICOS TWNK GPC1 GNE FAH PSMB9 TMEM199 CPT1A INPP5E SC5D YARS2 NFKB1 HNF1A RBCK1 LIPT1 KIF23 STEAP3 DGUOK HADHB ATP7B ERCC4 HJV MS4A1 COG6 COG5 SLC37A4 ATM SLC25A15 G6PC DCDC2 LBR CBS GNAS CFH VPS13A TFAM DMPK BRCA1 ADAR TP53 UQCRC2 TKFC ACSF3 IFIH1 DOLK MRPL3 VIPAS39 ACADM HBB WDR35 CCDC115 DPM1 C8orf37 BRCA2 BMP2 GNMT HMGCL DDOST FBXL4 PEX13 AHCY CNTNAP2 DNAJC19 FOXP3 BCS1L POLD1 CAV1 HELLPAR ADK PSMB4 JAK2 ALG6 DNAJC21 HADHA TNFSF12 CSPP1 STOX1 CR2 SLC7A7 PEX16 DPAGT1 TRMU NFKB2 IARS1 CD46 COG2 EIF2AK3 SAR1B PRKCD TRMT10C SLC25A4 AMACR NOS3 ASAH1 HP_METHYLMALONIC_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDEMIA MCEE CCN6 PRDX1 MMAB MMADHC SUCLA2 MMACHC MMAA MMUT LMBRD1 ABCD4 HCFC1 ACSF3 HP_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOGLOBINURIA CRPPA SGCB HADH ANO5 CPT2 LDHA COQ2 FKRP LPIN1 ISCU PFKM DMD PGK1 CACNA1S RYR1 TANGO2 ACADL HADHB PYGM ACADVL PHKA1 PGAM2 HADHA HP_HYPERCHLORIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLORIDURIA SLC12A1 CLCNKB CLCNKA BSND KCNJ1 HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION SEC23B TSC1 BUB1B RAI1 SHH CDAN1 LBR ESCO2 MECP2 TRIP13 GJA1 NKX2-5 HP_HYPERMAGNESEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESEMIA AP2S1 SLC12A3 CASR CLDN10 ALDOB GNA11 CLCNKB HP_KETONURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETONURIA ZFP57 TANGO2 PDX1 HMGCL ABCC8 MMAA GYS2 PCK1 KCNJ11 HYMAI MCEE PLAGL1 MCCC1 INS MMAB SLC16A1 SLC25A13 MCCC2 ACAT1 GCK CA5A GCDH OXCT1 STAT3 HP_DECREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ACTH_LEVEL SOX3 CDH23 AIP BAP1 HESX1 PDE11A PDGFB PROP1 OTX2 PIK3CA TERT SMO SMARCE1 TRAF7 SMARCB1 GLI2 LHX4 SUFU AKT1 PRKAR1A GNAS FOXA2 NFKB2 MEN1 NF2 POU1F1 HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID RSPH1 FGFR3 CTBP1 NDUFS1 GLI3 SPAG1 TMEM231 LIPT1 TCIRG1 TSC2 PSAP POMT1 ARHGAP31 FANCL NARS2 B4GAT1 SURF1 MT-ND2 FGFR2 RNASEH2C DNAH1 LARGE1 OSTM1 NDUFS8 CTSK CD59 OGDH ECHS1 BRIP1 CEP55 GMPPB NDUFS7 PORCN EGR2 TMEM138 GNAQ SLC2A1 DNAAF1 TH TYMP SLC13A5 FGFRL1 MTRR SHOC2 DNAH9 PNPT1 HCCS RNASEH2A IFT43 CC2D2A BRAF FKTN RSPH4A MT-ND4 PTCH1 NDUFS3 PET100 NDUFV2 ERCC8 PLG NDUFAF2 GAS8 CRB2 B9D1 KIF1A EML1 HDAC6 PRNP CCDC65 MT-TQ AKT1 VSX1 ERCC3 RARS2 DENND5A HRAS SCO2 NDUFS2 NDUFB11 RPIA GPSM2 RPGRIP1 INPP5E PIEZO2 DOCK6 TCTN2 SLX4 NF1 MAN2B1 PTCH2 TIMMDC1 OCLN NDUFAF8 NDUFB10 PIK3CA POMGNT1 MT-CO3 FANCB KMT2D FAM20C COX8A TREX1 SUFU SKI CEP290 AKT3 RPGRIP1L ARVCF GFM2 DLL4 ARL3 MMACHC BCS1L FANCA ARSA KIF7 LAMB1 NDUFS6 FGFR1 ARSB FOXRED1 NDUFV1 LRPPRC COL4A1 TNFSF11 RAD51 TCTN1 RBPJ SEC24D XRCC2 ROGDI TMEM67 GALC DNAAF6 NDUFAF4 B3GLCT CCDC103 CLCN7 RNASEH2B SOX9 GBA DNAAF4 NRAS UBE2T SDHA HERC1 EBP PIK3R2 AHI1 ARL13B TMEM216 ERCC4 CEP104 MT-ND5 UFD1 LETM1 TP53 MT-TH POMGNT2 NDUFAF3 DDC NF2 KIAA0586 TMEM126B SLC19A3 TMEM237 CCND2 DARS2 COL18A1 PRF1 FANCM FOXJ1 ERCC6 SMO COX6B1 GPC4 TSC1 ZNHIT3 COX14 DHCR24 AIFM1 NDUFA12 SUMF1 OFD1 DNAL1 NSD2 ALG13 ARMC9 BAP1 B3GALNT2 SLC25A19 TXN2 COMT POMT2 WDPCP POMK CRPPA DNMT1 VANGL1 RSPH9 JMJD1C COA3 ERF CEP120 TAF2 L1CAM FLNA NOTCH1 PPP2R5D HIRA ADAR CEP41 MRPS34 TBCK BRCA2 TGFBR2 ZBTB24 IFIH1 RNF125 RXYLT1 MT-CO1 CPLX1 NSUN2 ERCC2 IDS SMARCB1 LMBR1 BRCA1 PYCR1 CSPP1 UNC93B1 DNAI1 IDUA MT-ND6 DNAJB13 TRAPPC12 MT-CYB POLG WNT3 MKS1 FLVCR2 B3GAT3 COX15 MAD2L2 MED12 SLC25A24 PPP2R1A NDUFA10 MT-TL1 PRDX1 MT-ND3 POLR3A TK2 KIAA1109 MT-TW MTFMT SOX2 TBX1 NDUFB3 DAG1 USP7 NDUFA2 AP1S2 LRRC6 MT-CO2 DNAAF5 CCNO PIBF1 COX20 CILK1 PTEN NDUFA4 NGLY1 SEC24C LRRC56 PDHA1 CPLANE1 TMEM107 FTO NDUFA9 TRMT10C DNAAF3 PALB2 GPC3 MTM1 FKRP P4HB CCL2 RSPO2 FANCE SCO1 NDUFAF6 NDUFAF5 PPP1CB MCIDAS RANBP2 IFT172 NDUFB8 PEX19 CCDC88C RECQL4 RFWD3 ZBTB20 TACO1 CSF1R MT-TF B4GALT1 CTNNB1 NDUFA13 COX7B CFAP221 AMER1 SAMD9 ZIC3 TUBB3 SLC29A3 RPGR STK36 PHYH NPHP1 TNFRSF11A MFN2 MT-ND1 RRM2B MBTPS2 RREB1 NME8 FRAS1 FANCF SAMHD1 SLC39A8 CEBPE COX10 WASHC5 CFAP298 HYLS1 CFAP300 FIG4 HTRA2 MDH2 SPEF2 FANCG SLC12A6 ZMYND10 KIAA0556 COA8 TBX15 HELLS KRAS COQ8A WDR81 MT-ATP6 CCDC39 ARMC4 FANCI POR FANCD2 DNAI2 NEK10 PTDSS1 MAP2K1 DNMT3B GCH1 PDGFB MT-TS2 VHL NDUFS4 TLR3 CENPF SNX10 ABHD5 TRAF3 TRAF7 PNPO SMOC1 MT-TN GP1BB RMND1 ZNF423 TYROBP MAF VPS33A MC1R TREM2 NOTCH2 ERCC5 CHST3 TET3 TICAM1 TERT MPZ TTR SLC17A5 LIG4 SLC13A3 GAS2L2 ZIC2 CEP83 CCDC151 MAP2K2 MPDZ MUSK DHCR7 ESCO2 GFAP B9D2 FAM111A NDUFA6 SF3B4 CDCA7 MPV17 PIGV CYP26C1 DNAH5 RAD51C BTNL2 TTC12 VANGL2 GLI2 HBA2 NDUFA1 NDUFA11 DPH1 TRPV4 TBK1 CCDC22 CCDC40 MECP2 HNRNPU NDUFAF1 FANCC GFM1 HLA-DQB1 EOGT FBN1 NAXE SIK3 HBA1 TTC25 DNAAF2 MT-TK PMP22 PRKAR1A PEX7 DRC1 VAC14 CFAP43 RSPH3 NDUFB9 TBXT PRX HLA-DRB1 MT-TV HYDIN TGFBR1 FUZ SMARCE1 CCDC114 BUB1B C12orf65 KDM6A CLIC2 GUSB DNAH11 NUBPL HP_RHEUMATOID_FACTOR_POSITIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_FACTOR_POSITIVE CASP10 IFNGR1 RASGRP1 FAS PGM3 FASLG PRKCD HP_INCREASED_THYROID_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_THYROID_STIMULATING_HORMONE_LEVEL SECISBP2 DCAF17 PAX8 NKX2-1 SMARCAL1 PDGFRB THRB PMM2 CDH23 DUOX2 TSHR SLC16A2 SLC35A2 HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY SLC26A4 KMT2D NKX2-1 LIMK1 INSR FMR1 KCNAB2 KAT6B AFF4 STAT3 DMXL2 LIG4 ELN MT-TF ALMS1 CTNS NIN FOXH1 CTNNB1 CDON RRM2B APOE HNF4A RAG2 RAI1 GLI3 SALL1 PROP1 PRDM16 TTC37 TSC1 FUT8 CHD7 MSTO1 SAA1 TBCK CP TSHR FBLN5 PIK3CA BRAF LRBA MT-ND1 MT-ND4 IGSF1 MCM8 HSD17B3 HESX1 RREB1 KCNJ18 NKX2-5 HNF1B TSC2 SAMHD1 LHX4 KCNJ10 HPD TRIP13 C1QBP MT-TQ AKT1 LHX3 DUOX2 CACNA1C POMC SETBP1 ZIC2 TRMT10A TF CEP57 MRAP PTCH1 SEMA3E XRCC4 FOXI1 WDR4 SUGCT RERE YY1 PRKAR1A MT-TW IL7R PTRH2 MLXIPL SIX3 GAS1 MT-CO3 PAX8 TREX1 TRH BCOR BUB3 TSHB MARS1 ARVCF FLCN ACP5 DISP1 APC WFS1 TGIF1 FANCI POLG LIFR ADA SOX3 CDH23 IQSEC2 SKI WDR11 POLG2 GCH1 BAZ1B PDGFB MT-TS2 UBR1 B3GLCT RNASEH2B FGF8 THRB TXNRD2 TRAF7 EXOSC2 DCAF17 SRD5A3 SUFU ALX4 DCLRE1C DUOXA2 GP1BB GNE PMM2 GTF2IRD1 CLPB TRAPPC9 UFD1 ROBO1 SLC12A3 MT-TH TG TDGF1 NF2 EFEMP2 STAR TANGO2 SCN4A FOXP3 BAP1 DACT1 TWNK NNT RFC2 GPC1 TERT SMO POU1F1 GATA1 ADAT3 SGPL1 HBB GTF2I TPO TONSL STAT1 IFNG CACNA1S GNAS STEAP3 LRP4 FOXP1 GPR161 ARNT2 POU3F4 PPP1R15B MT-TN PTEN MC2R FOXE1 DEAF1 KISS1R CLCNKB CLIP2 LEPR NPHS1 COMT SHH ZBTB20 SLC5A5 AIRE RMRP TMEM67 SKIV2L JMJD1C GLIS3 PLAA MT-TL2 ENPP1 DMPK HIRA LEP ADAR IFIH1 BTNL2 MT-TL1 SMARCB1 GLI2 MT-CO1 TBX1 SRY THRA MT-ND5 FOXA2 ITCH RBM28 TBC1D24 ADAMTSL1 PCSK1 MEN1 BUB1B FLII DNAH1 MT-ND6 PHF21A PROKR2 IL2RG IYD PLVAP DDOST EXT2 PDE4D DNAJC19 ARL6IP6 GATA6 TBL2 NODAL SLC6A17 PIK3C2A RNASEH2C POLR3A PIEZO1 GABRD BUB1 ABCC6 MT-CO2 STUB1 AIP RNASEH2A IL2RA USP9X OTX2 HLA-DRB1 SEC24C SMARCE1 BMP4 EIF2AK3 KIAA0556 DLL1 ALG8 TRHR DNM1L SLC25A4 KDM6A RAG1 FGFR1 SLC16A2 OPA1 FUCA1 GABRA3 FDX2 HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX NDUFV1 NDUFS1 TACO1 PDP1 NDUFAF6 LIPT1 COX15 FOXRED1 NDUFA4 NDUFS3 NDUFS2 NDUFS4 PDHX PET100 NDUFAF5 PDHA1 NDUFAF2 NDUFA10 SDHA NDUFA12 GLRX5 NDUFS8 NDUFA9 SLC39A8 NDUFV2 ECHS1 DLAT NDUFA13 MTFMT NDUFS7 NDUFA2 SLC19A3 SURF1 HP_DISTAL_SENSORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT NAGLU PDK3 DARS2 MED25 PMP22 DYNC1H1 KARS1 SH3TC2 MATR3 C12orf65 AARS1 MPZ POLG NEFL GNB4 TRPV4 FGD4 GDAP1 HARS1 KLHL9 GJC2 POLR3A PLEKHG5 C19orf12 LRSAM1 CHCHD10 HINT1 REEP1 TDP1 EGR2 NAGA PRX BSCL2 ATP13A2 CAV1 PIK3R5 MPV17 NEFH MSTO1 INF2 MCM3AP SLC25A46 YARS1 IBA57 MFN2 SCYL1 DCAF8 SBF1 KIF1A SERPINI1 SPG11 XRCC1 TYMP DNM2 MORC2 NDRG1 MME GAN SAMD9L FIG4 HK1 PEX10 GBE1 SPTLC2 SACS ATP7A LITAF KIF1B AIFM1 PNKP KIF5A MARS1 ATL1 VCP CCT5 TK2 SBF2 SOX10 SETX DDHD1 APTX IGHMBP2 COX6A1 RAI1 TWNK COA7 HSPB8 GARS1 TFG CAPN1 GJB1 CYP7B1 ABHD12 IARS2 MTMR2 FBLN5 JPH1 LMNA DNAJB2 PRPS1 BAG3 HSPB1 HP_HEMIVERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIVERTEBRAE DLL3 ROR2 SEMA3E JAG1 CCDC22 SH2B1 TMCO1 GLI3 TBX6 RIPPLY2 SIX6 WNT5A SON IKBKG PTCH2 WNT7A FANCB KMT2D SUFU SOX2 KYNU DVL1 HES7 MESP2 POR B3GLCT CDK10 FZD2 MYH3 CHD7 PUF60 PTCH1 TBX2 MBTPS2 DVL3 KDM6A EBP WASHC5 TBC1D24 ATRX RAD21 FGFR1 ORC1 HP_LUMBAR_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_HYPERLORDOSIS VPS33A GMPPB TONSL HACE1 SMARCAL1 NSDHL RMRP BCOR POMT2 ADAMTS10 ACTA1 RYR1 TRAPPC2 FGFR3 COMP ALG2 CLCF1 DPAGT1 POMT1 SLC26A2 ACAN FBN1 ALX3 DDRGK1 POMGNT1 MATN3 EXTL3 DAG1 HERC1 ACP5 SHOX CHST3 LMX1B RERE MED12 PLEC POMK ARSB FUCA1 BGN NPR2 TPM2 SELENON SGCG MYPN XYLT1 PIEZO2 SOX5 COL11A2 PCGF2 VCP COL2A1 GFPT1 VPS13B TPM3 SYT1 HSPG2 NAA10 IHH SON MYH7 COL6A2 ALG14 RAB3GAP2 MFN2 FKRP DYM HP_THORACIC_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSIS VPS33A CDH11 SMARCAL1 NPR2 ERCC3 TMEM231 TARS1 MPLKIP COL2A1 TRAPPC2 SRD5A3 MGAT2 MAN2B1 FGFR3 GNPTAB TONSL FLNB ANKRD11 ALDH3A2 MIR140 PIK3C2A EXTL3 LHX3 ERCC2 AIFM1 PHF8 XYLT2 SLC26A2 POP1 AMER1 GTF2E2 GUSB PUF60 GTF2H5 RNF113A DYM WDR81 HP_THORACIC_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_SCOLIOSIS CHRND ERLIN1 SCN4A IARS2 RAPSN DOK7 TPM2 COL13A1 SGCA MYPN SOX5 NEK9 ZMPSTE24 CHRNE PCGF2 C12orf65 SPRTN MUSK AEBP1 GDF3 PUF60 HINT1 VPS13B TPM3 PYCR2 AK9 DES PIK3R2 RBBP8 LMNA CHRNA1 MOGS LRP4 AGRN TBX5 ATRX PEX5 CHRNB1 TUBB3 WDR81 HP_THORACOLUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_SCOLIOSIS RSPRY1 PDGFRB ROR2 CDH11 GLIS3 ROBO3 USP9X MYO18B PIEZO2 NIN MGAT2 GNPTAB CLCF1 LONP1 LHX3 COL1A2 IL6ST COL6A2 TBC1D24 COL2A1 SLC26A2 POP1 ATRX PAPSS2 HP_INTERVERTEBRAL_SPACE_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERVERTEBRAL_SPACE_NARROWING LTBP3 CHST3 MT-ATP8 RRM2B MT-TL1 COL2A1 HP_CERVICAL_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_KYPHOSIS FLNB SLC26A2 CHST14 DSE RIPPLY2 HP_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_FUSION DLL3 ROR2 BMPER CHRNA1 MAP3K7 FGD1 CTBP1 CHRND MYH3 FUZ MYO18B TBX6 CHRNG FKRP SIX6 DCC GPC4 PTCH2 NTN1 AFF4 RBM8A FLNA RAD51 GDF6 GPC3 SUFU FLNB SOX2 NSD2 HES7 FGFR2 MEOX1 IL1RN FANCI SALL4 FGFRL1 GDF5 VANGL1 CHN1 PUF60 MAFB DNAL4 ACVR1 SOX5 MESP2 NOTCH3 PTCH1 KANSL1 GDF3 DKK1 SMAD4 ANKRD11 CPLX1 NOG LETM1 HGD HP_FUSED_CERVICAL_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSED_CERVICAL_VERTEBRAE SALL4 FLNA MAP3K7 MYH3 MYO18B DNAL4 ACVR1 DCC NTN1 AFF4 RBM8A RAD51 GDF3 GDF6 DKK1 MEOX1 FLNB NOG FGFR2 IL1RN PUF60 FANCI CHRNG HP_VERTEBRAL_COMPRESSION_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_COMPRESSION_FRACTURES GORAB MMP2 PLS3 GBA SCARB2 CREB3L1 P3H1 UROS TENT5A WNT3A SERPINF1 USP8 WNT1 SERPINH1 CRTAP TNFRSF11A CCND1 AIP NOTCH2 P4HB DKK1 XYLT2 FKBP10 SPARC PYCR1 HP_GRANULOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOMATOSIS NCF2 HLA-DPB1 ASAH1 HLA-DPA1 PTPN22 CYBB CTLA4 PRTN3 CYBA NCF1 HP_IMMUNE_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNE_DYSREGULATION LAT ACP5 LEPR PLCG2 FOXP3 STAT1 HP_AUTOIMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNITY KMT2D IL2RA ARHGEF1 NHEJ1 STAT3 IL2RB CD19 C1QA CASP10 CTLA4 C4A TTC7A GPR35 CD81 PNP RAG2 ADA2 SERPING1 PTPN22 CD247 LRBA CCR6 IL6 RREB1 SAMHD1 TNFRSF13B TCF4 SEC23B FADD DCLRE1C PLCG2 HLA-DRB1 ICOS NRAS TNFRSF13C MMP2 RFXAP LIG4 TRAC IL7R LACC1 IRF5 CSF2RB FLT1 FASLG CD3G HAVCR2 TREX1 SMPD1 KIAA0319L CORIN FAS ARVCF ACP5 ZAP70 C1R NFKB2 MST1 MTHFD1 ADA ANKRD55 RAG1 TPP2 ITCH CSF2RA TNFAIP3 TBX2 SPP1 TNPO3 RNASEH2B HLA-DPB1 HLA-DPA1 GP1BB UFD1 SLC12A3 GFI1 FOXP3 SPIB C2 FCGR2B PIK3R1 ELANE WIPF1 SRP54 NFKB1 CAV1 STAT1 PAX4 PTEN DNASE1L3 STIM1 CLCNKB GALC MS4A1 NLRP1 IFNGR1 RASGRP1 PTPN2 COMT STAT4 MIF AIRE WAS RMRP JMJD1C POU2AF1 C1GALT1C1 C1QC HIRA ADAR IFIH1 PGM3 POLG C8A TBX1 CHD7 IRAK1 PRTN3 IL12A FOXD3 ITPR3 TCIRG1 CR2 IL2RG CCN2 IL12RB1 LMNB2 PRKCD RFXANK RNASEH2C DNASE1 C1S DDX41 MASP2 HNF1A MMEL1 CIITA TNFSF12 STOX1 ITK RNASEH2A LCK HLA-DQB1 SLC7A7 NBN SEC24C C1QB BTK PEPD C3 TNFSF15 RFX5 FCGR2A KDM6A KRAS HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST RFXANK WAS CASP10 RFXAP RFX5 EPG5 RAB27A CIITA JAK3 FAS FASLG HP_CUTANEOUS_ANERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ANERGY RFXANK RFXAP RFX5 EPG5 CIITA JAK3 HP_CUBITUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUBITUS_VALGUS SIL1 SHOX PTPN11 NOG MAP2K1 CHST3 PSMD12 PEX2 EVC2 PEX5 GJA1 KRAS RAF1 BPTF BCOR VPS13B CLCF1 GLI1 SOS1 BRAF EVC CUL4B NUP107 SRY MAP2K2 LMX1B WNT4 PEX1 NF1 RSPRY1 POP1 FGF9 DYNC2LI1 CBL TUBB3 PTH1R HP_GENU_VARUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VARUM CCN6 CANT1 SHOX VDR C12orf57 KLHL41 COMP ACTA1 MMP13 COL2A1 RBM8A TONSL MATN3 DDRGK1 TCTN3 APC2 NSD1 SLCO2A1 PHEX CFL2 COL10A1 FN1 RMRP LMOD3 UFSP2 ENPP1 FGFR3 RAB23 TPM2 IHH XYLT1 COL9A1 ACAN NEB HPGD COL9A3 CYP2R1 DYM SETD2 COL9A2 NKX3-2 ORC6 KIF22 EFL1 DMP1 TRIP11 RPL13 ORC1 CYP27B1 HP_ABNORMALITY_OF_THE_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREARM SHOX TWIST1 CCDC8 FANCE CTBP1 GLI3 DHCR7 GPC6 BMPR1B LIMK1 MASP1 B4GALT7 LRP4 FANCL AFF4 ARID1B GDF5 RECQL4 RBM8A RFWD3 COMP MMP13 A2ML1 TBX22 SALL4 RRAS2 ELN FLNB BRIP1 COL2A1 TPM2 ATR TBX5 B3GALT6 NIPBL SAMD9 ZIC3 CHRNG FGFRL1 CHD7 GSC BANF1 SF3B4 TRIP11 CANT1 COLEC11 MYH3 FLNA EXT1 SCARF2 AEBP1 TBX15 PIEZO2 FANCF HOXA11 TBX3 CHSY1 LMBR1 RAB3GAP2 ALG12 SMC3 SETBP1 MACROH2A1 FANCC FGFR3 NOG SEMA3E FANCG DONSON IHH ESCO2 ASXL1 MRAS SLX4 P3H1 FGFR1 KRAS MLXIPL BCOR FANCB DHODH BRAF FANCI RAD21 POR FANCD2 COL11A1 EXT2 FANCA LMX1B APC NRAS OBSL1 MAP2K1 CHN1 BHLHA9 BAZ1B EXTL3 XRCC2 CBL RAI1 WNT7A FGFR2 COL27A1 BMP1 UBE2T MAF FGF10 SHH REV3L SMC1A GTF2IRD1 MECOM SOS2 LETM1 ERCC1 RAD51 RBM10 JAG1 MMP9 CHST3 FANCM RFC2 ERCC4 PCNT PLXND1 EIF4A3 GTF2I KIF22 EP300 NSD2 MAP2K2 RASA2 PDE4D ERGIC1 B2M CLIP2 EXOC6B ZBTB16 IFT81 TMEM67 COLEC10 NPR2 MAFB KAT6B RAD51C BRCA2 PTDSS1 RNU4ATAC CPLX1 CREBBP PITX1 IFIH1 BRCA1 CD96 SOS1 FGF9 XYLT1 SETD5 LZTR1 MAP3K7 HOXD13 PTPN11 B3GAT3 FZD2 TNNT3 MAD2L2 CUL7 TRIO TBL2 RAF1 NOTCH2 PRKAR1A KMT2A AGA PIGT CCNQ BGN RIT1 FKBP10 TNNI2 DYNC2H1 IFITM5 CYP26B1 RRAS NALCN SKI TAPT1 RPS19 TGFB1 HDAC8 PALB2 RPL26 HP_RADIOULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIOULNAR_SYNOSTOSIS SETD5 TWIST1 LZTR1 TBX5 CTBP1 PTPN11 CHST3 PIEZO2 LIMK1 RFC2 MASP1 B3GAT3 DONSON B4GALT7 ELN MRAS ESCO2 MLXIPL GTF2I A2ML1 BCOR TBL2 TBX22 LRP4 SALL4 RRAS2 MECOM RAF1 RAD21 NSD2 RASA2 DHODH CHSY1 FGFR3 CLIP2 POR APC NRAS NIPBL KMT2A HOXA11 FGFR2 FGFRL1 SF3B4 COLEC10 RIT1 BAZ1B CANT1 COLEC11 KAT6B CBL RRAS KRAS CPLX1 MAF SMC1A GTF2IRD1 HDAC8 SOS2 LETM1 RPL26 SOS1 SMC3 SETBP1 XYLT1 HP_BOWING_OF_THE_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_LEGS CCN6 SHOX LIFR RSPRY1 POLR1A KLHL41 LIMK1 ACTA1 MTAP GLI1 KIF7 MMP13 IFT172 EIF2AK3 COL1A1 RBM8A COMP CLCN5 SOX9 SETBP1 ELN FLNB PWAR1 SLCO2A1 COL2A1 SLC10A7 RNU4ATAC B3GALT6 FGFR3 DYNC2LI1 TUBB3 LMOD3 NSD1 BPNT2 ENPP1 CYP2R1 CHST3 DYM HSPG2 PLOD2 ACAN FLNA NEB EXT1 SCARF2 DDRGK1 COL11A1 EVC TNFSF11 LONP1 NPAP1 ORC6 FIBP GAN CYP27B1 SFRP4 CANT1 CYP19A1 VDR RAB33B GALNS P3H1 NF1 MAN2B1 KRAS IFT57 GLB1 BCOR BRAF MATN3 SKI MCTP2 POR APC2 ATRX EXT2 COL9A2 MMP9 WDR60 TRPV4 NDN COL10A1 FN1 ARSB RAB23 MAP2K1 COL1A2 BAZ1B EVC2 COL9A1 TENT5A PUS3 BHLHA9 WNT7A CRTAP OCRL ATP7A SMOC1 HERC2 NEK8 MAGEL2 GTF2IRD1 HS6ST1 EFL1 DMP1 RPL13 GDF5 MEGF8 SNORD115-1 CTC1 LOXL3 PHEX RFC2 COL9A3 PCNT GTF2I TONSL KIF22 FGFR2 TRPV6 EHHADH MAP2K2 CA2 SNRPN CLIP2 GORAB COG5 ZBTB20 SLC26A2 RMRP CLCN7 IARS2 TPM2 CBS VPS13B SPART ALPL MKRN3 DDR2 IDUA UGP2 NKX3-2 IFIH1 HBB PCYT1A CLTCL1 ORC1 C12orf57 GNPTG B3GAT3 SNORD116-1 SERPINH1 TBL2 PEPD TCTN3 TGFB1 NOTCH2 PWRN1 SGMS2 CFL2 TRPS1 UFSP2 RUNX2 IHH CDC45 XYLT1 FBN1 DYNC2H1 CTNS HPGD SETD2 SLC34A3 TRIP11 GUSB TMEM38B PAPSS2 HP_FEMORAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_BOWING LIFR RSPRY1 POLR1A PHEX RMRP FGFR2 P3H1 MAN2B1 CLCN5 SOX9 WNT7A FLNA TRPV6 COL1A1 POR MMP13 GORAB WDR60 SGMS2 RNU4ATAC COL10A1 FGFR3 COL11A1 COL1A2 CYP2R1 VDR DYNC2H1 PLOD2 TENT5A ENPP1 SCARF2 BHLHA9 NEK8 SLC34A3 DMP1 PCYT1A CYP27B1 GDF5 TMEM38B DYM HP_ABNORMALITY_OF_THE_CALF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF CCN6 SHOX LIFR RSPRY1 POLR1A SLC35D1 GLI3 KLHL41 GPC6 BMPR1B LIMK1 ACTA1 MTAP GLI1 KIF7 MMP13 IFT172 INPPL1 AFF4 EIF2AK3 COL1A1 RBM8A COMP CLCN5 SOX9 LMBR1 TP53 SETBP1 ELN FLNB SCN1A FGFR2 GDF5 PWAR1 MET SLCO2A1 COL2A1 SLC10A7 GABRG2 ATR RNU4ATAC B3GALT6 AMER1 FGFR3 DYNC2LI1 ADGRV1 TUBB3 LMOD3 NSD1 BPNT2 ENPP1 CYP2R1 CHST3 DYM HSPG2 SCN9A PLOD2 ACAN FLNA NEB EXT1 SCARF2 DDRGK1 TCTN3 COL11A1 EVC SEMA3E TNFSF11 LONP1 NPAP1 CHD7 ORC6 FIBP GAN CYP27B1 ALG12 SLC35A2 GABRA1 SFRP4 CANT1 CYP19A1 VDR RAB33B GALNS P3H1 NEK1 NF1 MAN2B1 TBX15 KRAS IFT57 GLB1 BCOR BRAF MATN3 SKI MCTP2 POR APC2 ATRX AIFM1 EXT2 COL9A2 MMP9 RB1 WDR60 TRPV4 NDN COL10A1 FN1 ARSB DONSON RAB23 MAP2K1 COL1A2 BHLHA9 BAZ1B EVC2 COL9A1 TENT5A PUS3 SHH WNT7A SF3B4 CRTAP OCRL ATP7A SMOC1 HERC2 NEK8 SCN1B MAGEL2 GTF2IRD1 HS6ST1 ACTB EFL1 DMP1 RPL13 MEGF8 SNORD115-1 CTC1 LOXL3 CHEK2 PHEX RFC2 COL9A3 PCNT EIF4A3 GTF2I TONSL KIF22 TRPV6 EHHADH MAP2K2 CA2 HYLS1 SNRPN CLIP2 GORAB GPX4 COG5 ZBTB20 SLC26A2 ZBTB16 RMRP CLCN7 IARS2 TPM2 CBS HCN1 NANS PTH1R VPS13B SPART STXBP1 ALPL MKRN3 DDR2 IDUA UGP2 NKX3-2 HPGD IFIH1 HBB PCYT1A CLTCL1 ORC1 PCDH19 C12orf57 GNPTG GABRD B3GAT3 SNORD116-1 SERPINH1 STX1B TBL2 PEPD TGFB1 NOTCH2 PWRN1 SGMS2 CFL2 TRPS1 UFSP2 BGN INTU RUNX2 SCN2A IHH CDC45 XYLT1 FBN1 DYNC2H1 CTNS ZSWIM6 TAPT1 TBXAS1 IFT122 SETD2 SLC34A3 TRIP11 GUSB TMEM38B PAPSS2 HP_TIBIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_BOWING SHOX COL1A1 LIFR FLNB PHEX CYP2R1 FGFR3 COL1A2 SMOC1 FIBP VDR PCNT P3H1 ENPP1 CLCN5 SOX9 FLNA RMRP SETBP1 MMP13 CHST3 GORAB SLC34A3 DMP1 PCYT1A CYP27B1 CLTCL1 COL10A1 DYM HP_MICROMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROMELIA CCDC8 SLC35D1 FGFR3 DYNC2LI1 DYNC2H1 ACP5 GLI3 BMPR1B PHGDH GLUL KIAA0586 PCNT INPPL1 WNT7A IFT80 PTH1R GPC6 IDH1 DHCR24 PAM16 LRP4 SLC26A2 WDR35 DVL1 SHOX MATN3 DHCR7 HHAT FGFR2 PDE4D ERGIC1 COL2A1 POLE RNU4ATAC NIPBL RMRP IFT81 FZD2 HSPG2 DYM IFT43 WDR60 COL11A2 TRIP11 EXT1 ACTB PUF60 GLI1 DDRGK1 DVL3 EVC EXOC6B IFT140 IFT172 ADAMTS2 DDR2 HYLS1 KIF22 WDR34 CD96 SMC3 B3GALT6 COL9A2 TRPV4 SETD5 COL11A1 LBR COMP CUL7 WNT5A ANTXR2 FLNB NBAS IDH2 SERPINH1 FAM20C RAD21 TCTN3 ALPL EXT2 APC GDF5 KMT2A KIF7 LIFR DONSON CILK1 OBSL1 EVC2 IHH COL9A1 CDKN1C WDR19 FN1 B3GLCT PSAT1 COL9A3 CRTAP PRKAR1A SMO ACAN SMC1A HDAC8 CEP120 TTC21B HP_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_RADIUS RBM10 SHOX FGFR3 NIPBL DONSON LRP4 ESCO2 AFF4 WNT7A RECQL4 EIF4A3 FANCB SALL4 DHODH GDF5 PDE4D APC ATR TBX5 FANCI RFWD3 IFT81 CCNQ SF3B4 NPR2 CHN1 MAFB TRIP11 PRKAR1A FGFR2 SLX4 FGF10 RAD51C RPS19 IHH RPL26 TBX3 ALG12 HP_RADIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_BOWING FLNA TMEM67 SHOX FLNB NPR2 PCNT COL11A1 P3H1 B2M EXT2 B3GALT6 WNT7A HOXA11 GDF5 EXT1 GLI3 MMP13 HP_ELBOW_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_FLEXION_CONTRACTURE PIGY TFAP2A LIFR MYL2 NALCN CHST3 NIPBL B3GAT3 ANO5 COL6A1 COL6A3 ACTA1 FKBP10 FBN2 PITX1 SRD5A3 SPRTN LMNA EMD SELENON WNT7A SIK3 FHL1 SLC6A9 COL6A2 LARGE1 CAPN3 PIK3C2A MYH3 TMEM43 CPT2 EXTL3 UNC80 ESCO2 COL12A1 PYCR1 PSMB8 TPM2 ATR RNU4ATAC SLC26A2 ECEL1 SYNE2 TRPV4 FLNA GJB2 ALDH18A1 ERCC6 PLOD2 KY TPM3 ERLIN2 LGI4 HACD1 SCARF2 TBX15 SLC29A3 ITGA7 PTDSS1 SLC39A8 MAP3K20 SNRPB PLOD3 DDR2 CRLF1 P4HTM SYNE1 HP_FIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_APLASIA FLNB RBM8A LMBR1 TBX15 FLNA AMER1 WNT7A GDF5 BMPR1B HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY SLC35D1 GLI3 FLNB GPC6 BMPR1B PHEX SMOC1 LMBR1 COL11A1 INPPL1 TBX15 AFF4 WNT7A GPX4 EIF4A3 RBM8A CLCN5 SOX9 FLNA SHOX FGFR2 GDF5 MET CANT1 COL2A1 ATR AMER1 ZBTB16 PTH1R BGN CYP2R1 FGFR3 INTU VDR DYNC2H1 NANS SHH BHLHA9 DDRGK1 SF3B4 ATP7A TAPT1 IFT122 DDR2 IHH SLC34A3 CYP27B1 HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY SHOX LIFR CHEK2 GLI3 GPC6 BMPR1B PHEX SMOC1 PCNT WNT7A COL1A1 EIF4A3 RBM8A CLCN5 SOX9 LMBR1 FLNB TP53 SETBP1 HYLS1 SCN1A GDF5 MMP13 CHST3 GORAB GABRG2 SLC26A2 ZBTB16 ADGRV1 CYP2R1 HCN1 VDR COL1A2 SCN9A ENPP1 EXT1 TCTN3 SEMA3E STXBP1 CHD7 HPGD PCYT1A CYP27B1 ALG12 CLTCL1 DYM SLC35A2 GABRA1 SHH PCDH19 GABRD P3H1 NEK1 NF1 STX1B FLNA RMRP COL11A1 AIFM1 EXT2 RB1 COL10A1 DONSON BHLHA9 FGFR3 INTU SCN2A FIBP DYNC2H1 ZSWIM6 ATP7A TBXAS1 SCN1B TGFB1 IHH ACTB SLC34A3 DMP1 HP_LIMITED_ELBOW_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_MOVEMENT PIGY LIFR NALCN CHST3 GPC6 DYSF MASP1 ANO5 PCNT ACTA1 FKBP10 FBN2 SRD5A3 FGFR3 RECQL4 COMP TONSL SPRTN LMNA LMX1B EMD SLC6A9 SMC3 COL6A2 MECOM TMEM43 MATN3 EXTL3 UNC80 ESCO2 COL12A1 PYCR1 ATR TBX5 RNU4ATAC SLC26A2 ECEL1 B3GLCT SMC1A SYNE2 SF3B4 COLEC10 OPA3 GJB2 NPR2 COLEC11 ERCC6 PLOD2 KY ERLIN2 LGI4 FLNA COL2A1 SCARF2 STXBP1 TBX15 SELENON PTDSS1 SHOX SLC39A8 DDR2 CRLF1 SALL4 P4HTM RSPRY1 PCYT1A ATP7A HRAS EZH2 MMP13 SYNE1 SFRP4 TFAP2A MYL2 RMRP HDAC8 NIPBL B3GAT3 COL6A1 FZD2 KCNK9 COL6A3 MED12 PITX1 CLCF1 WNT7A SIK3 FHL1 PPP2R3C LARGE1 FLNB CAPN3 PIK3C2A MYH3 CPT2 PSMB8 TPM2 HOXA11 TRPV4 PTH1R PTPN11 BGN HUWE1 ALDH18A1 IFITM5 FGFR2 TPM3 HACD1 SLC29A3 ITGA7 MAP3K20 SNRPB PLOD3 MYOT STAG1 HP_ABNORMALITY_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ULNA TWIST1 CCDC8 FANCE JAG1 MMP9 CTBP1 CHST3 BMPR1B LIMK1 FANCM RFC2 ERCC4 MASP1 B4GALT7 PCNT LRP4 PLXND1 FANCL WNT7A GDF5 RECQL4 RBM8A GTF2I RFWD3 COMP MMP13 FGFR2 A2ML1 TBX22 SALL4 RRAS2 MECOM ELN FLNB NSD2 MAP2K2 RASA2 SHOX BRIP1 FGFR3 PDE4D COL2A1 B2M CLIP2 POR EXOC6B TBX5 NIPBL ZBTB16 FGFRL1 SF3B4 COLEC10 CHD7 CANT1 COLEC11 KAT6B EXT1 RAD51C SCARF2 BRCA2 KRAS PIEZO2 FANCF CPLX1 HOXA11 TBX3 PITX1 CHSY1 LMBR1 RAB3GAP2 BRCA1 SOS1 SMC3 SETBP1 MACROH2A1 XYLT1 SETD5 SEMA3E LZTR1 PTPN11 FANCG B3GAT3 DONSON IHH ESCO2 MRAS MAD2L2 SLX4 CUL7 FANCC MLXIPL BCOR TBL2 FLNA DHODH BRAF RAF1 FANCI RAD21 FANCD2 COL11A1 EXT2 FANCA APC NRAS KMT2A AGA PIGT BGN RIT1 OBSL1 MAP2K1 BHLHA9 BAZ1B XRCC2 DYNC2H1 CBL RRAS PRKAR1A UBE2T MAF FGF10 REV3L SMC1A TGFB1 GTF2IRD1 HDAC8 SOS2 PALB2 LETM1 RPL26 FANCB RAD51 HP_PATELLAR_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_DISLOCATION NOTCH2 LIMK1 RFC2 FLNA FZD2 FBN2 TMTC3 TBX4 RBM8A GTF2I LMX1B TBL2 FLNB EP300 ELN ARF1 ARVCF TBX1 CLIP2 COMT EXOC6B ERMARD RYR1 BPNT2 JMJD1C CHST11 GDF5 BAZ1B SEC24C CANT1 KAT6B HIRA RREB1 STXBP1 OCRL ARFGEF2 RNU4ATAC CREBBP EBP GP1BB NEDD4L GTF2IRD1 MAP1B UFD1 XYLT1 HP_BREAST_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_CARCINOMA CHEK2 MLH1 PIK3CA RAD54L CTNNB1 KLLN RAD51 NQO2 APC RAD50 TP53 STK11 RAD51C PHB PTEN BRCA1 KRAS CDH1 AKT1 NTHL1 IDH2 MRE11 TWIST1 XRCC3 BARD1 ATR BRIP1 POLE MSH2 CDKN2A PALLD SEC23B NBN RB1CC1 BRCA2 AAGAB POLD1 RNF43 IDH1 COL14A1 PALB2 RAD51D WRN PPM1D SDHB SLC6A17 HMMR SMAD4 MSH6 PRKN USF3 ESR1 SDHC CASP8 ATM MDM2 FGFR2 OPCML SLC22A18 SDHD HP_COLON_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLON_CANCER SH3KBP1 FOXE1 AAGAB FLCN MLH1 COL14A1 KRAS CEP57 MUTYH BRCA2 MINPP1 BMPR1A GREM1 PALB2 APC PMS2 TGFBR2 EPCAM SMAD4 MSH2 PRKAR1A MSH6 BUB3 NTHL1 BUB1 AXIN2 TP53 HABP2 MLH3 DMPK BRCA1 PMS1 MSH3 TRIP13 PALLD CDKN2A SMAD7 RPS19 PIK3CA FAN1 BUB1B HP_GANGLIONEUROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGLIONEUROMA GDNF PHOX2B MYO1H BDNF EDN3 ASCL1 RET KIF1B HP_PROLONGED_BLEEDING_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_TIME SH2B3 GP1BB BMS1 GFI1B ITGA2B MYH9 RASGRP2 NBEAL2 NF1 ITGB4 TEK GNAS ITGB3 HPS5 WIPF1 F2 GP1BA GATA1 JAK2 SOS1 WAS PLEC DLL4 RUNX1 RIN2 TET2 GP6 AGGF1 VWF SLC35A1 MAP2K2 F5 GP9 HPS6 TP53 ADAMTS2 CD36 MPL GATA2 CALR HPS1 HP_FLARED_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_METAPHYSIS FGFR3 LIFR NPR2 TCIRG1 TRPV4 RMRP PCNT COL11A2 PTH1R NANS RUNX2 COMP GJA1 KIF22 DDRGK1 TAPT1 FLNA PTDSS1 OSTM1 B3GALT6 XYLT1 DDR2 COL2A1 FAM111A VAC14 FIG4 ERCC1 COG4 SH3PXD2B EZH2 MMP13 PEX7 LBR HP_METAPHYSEAL_WIDENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_WIDENING CCN6 ABCC9 SFRP4 MMP2 LIFR SLC35D1 GALNS RMRP TCIRG1 FGFR3 PCNT COL11A1 INPPL1 PITX1 COMP GJA1 GLB1 KIF22 SRP54 SLC26A2 ACAN CSF1R OSTM1 DDRGK1 ANKH MATN3 LMNA ATP7A CANT1 COL2A1 AIFM1 SLC39A13 MMP9 FAM111A VAC14 TRPV4 B3GALT6 COG4 ARSB DNAJC21 PEX7 WDR19 NPR2 LRP5 NSMCE2 ACVR1 XYLT1 COL11A2 DYNC2H1 CTNS PTH1R NANS RUNX2 GNPTAB SKI MMP13 TAPT1 FLNA ZMPSTE24 PTDSS1 HSPG2 DDR2 ARCN1 EFL1 SBDS PCYT1A TRIP11 FIG4 ALG9 ERCC1 SH3PXD2B EZH2 DYM BMPR1B LBR HP_ABNORMALITY_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_WRIST SHOX BMPR1B PSMD12 ANO5 FLNB AIFM1 GPC4 XRCC2 PTEN EIF2AK3 RECQL4 COMP TONSL KIF22 CLCN5 MAP3K7 LRP4 FGFR3 SALL4 OCRL PAX3 NIN GNPTAB ESCO2 TPM2 MMP2 CHST3 SETD2 POR SLC10A7 EXOC6B TBX5 B3GALT6 FBLN1 DYNC2LI1 MYH7 TUBB3 MMP14 OPA3 NOG CYP2R1 PIGV DYM HSPG2 MAFB BHLHA9 VDR GDF5 MYH3 FLNA ERLIN2 LMBR1 NANS ENPP1 HOXD13 EXT1 BPTF AEBP1 GLI1 AKT1 PTH1R ALDH18A1 EVC HOXA13 LONP1 ROR2 TBX3 COLQ GJA1 COL11A2 DDR2 MBTPS1 PITX1 RSPRY1 CHSY1 CYP27B1 ATP7A MATN3 MACROH2A1 CANT1 NXN TNNI2 GALNS RMRP ASXL1 TNNT3 TBX15 GLB1 WNT7A RBM8A CAPN3 NOTCH2 EXT2 APC PRG4 PIEZO2 UFSP2 BGN SLC35D1 TRPV4 EXTL3 EVC2 XYLT1 FN1 COL2A1 NALCN SMOC1 LAMB2 ADAMTSL2 EBP SHH GNE FGFR2 IHH SLC34A3 GPC3 DMP1 TRIP11 ASAH1 HP_ENLARGEMENT_OF_THE_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_WRISTS VDR AIFM1 SLC34A3 DMP1 ENPP1 CYP27B1 CYP2R1 CLCN5 HP_METAPHYSEAL_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CUPPING PAM16 HDAC6 RMRP ALPL AIFM1 COL2A1 PCYT1A GPX4 PTH1R TRIP11 COL11A2 COL10A1 PEX5 MMP13 INPPL1 LBR HP_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_IRREGULARITY RAB33B PHEX LPIN2 FGFR3 SLC17A5 COL2A1 COMP TONSL KIF22 CLCN5 SRP54 SIK3 CFAP410 ACP5 KIAA0586 MMP9 EXOC6B GPX4 PEX5 FN1 RMRP ARSB DNAJC21 PTH1R CASR CSPP1 BGN SLC35D1 CYP2R1 TRPV4 VDR NANS IARS2 DDRGK1 DYM NKX3-2 RSPRY1 EFL1 SBDS SLC34A3 PCYT1A CYP27B1 RPL13 MATN3 HP_SHORT_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LONG_BONE SHOX LIFR CCDC8 FANCE SLC35D1 GLI3 GPC6 LRP4 IFT172 INPPL1 FANCL AFF4 GDF5 RECQL4 RFWD3 COMP SOX9 LMBR1 TCF4 SALL4 FLNB WDR35 FGFR2 BRIP1 MET SLC10A7 ATR TBX5 PORCN RNU4ATAC B3GALT6 AMER1 ZIC3 COG4 FGFR3 B3GLCT SALL1 PHYH HSPG2 CHD7 GSC IFT52 SF3B4 TRIP11 COL11A2 FGFR1 EXT1 SCARF2 TCTN3 TBX15 HOXA13 FANCF LONP1 COL2A1 PTHLH DCHS1 RSPRY1 CHSY1 ALG12 BMPR1B SMARCA2 SLC35A2 GNAS ROR2 SEMA3E RAB33B FANCG NIPBL DONSON PRKAR1A IHH MYSM1 SLX4 NEK1 ESCO2 FANCB DHODH FANCI KCNJ2 FANCD2 EXT2 FANCA WDR60 APC GHR COG1 GNPAT PRMT7 OBSL1 CHN1 XRCC2 FBN1 GNPTAB SHH BHLHA9 WNT7A UBE2T SMOC1 ADAMTSL2 FGF10 RPL13 SH3PXD2B RAD51 SLC26A2 RBM10 JAG1 RIPK4 FANCM ERCC4 HOXD13 TBX4 EIF4A3 PAM16 WDR34 HYLS1 MATN3 PDE4D B2M CHST3 TTC21B EXOC6B GPX4 ZBTB16 RMRP IFT81 SIL1 NPR2 MAFB RAD51C PUF60 BRCA2 PTH1R VPS13B TRPS1 SRY DDR2 BRCA1 ATP7A ALG9 EZH2 POC1A DYM MAP3K7 FZD2 MAD2L2 CUL7 COL11A1 FANCC HINT1 FLNA RBPJ DDRGK1 POLR3A PEX7 CANT1 PIGT CCNQ PIGS BGN NOG INTU XYLT1 DYNC2H1 FAT4 SMAD4 TAPT1 EVC SNRPB IFT122 EVC2 RPS19 PALB2 RPL26 TBX3 AGPS HP_MESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOMELIA SHOX TONSL NXN DVL3 GLI3 NPR2 DHCR7 GDF5 DONSON CREB3L1 FLNA NEK1 ESCO2 TBX15 PTH1R NGLY1 EIF4A3 FGFR3 DVL1 GPC6 SIK3 RMRP ROR2 ACAN WDR35 WNT5A RAC1 KIF15 TRIP11 IFT80 LBR HP_ABNORMALITY_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANKLES LIFR GLI3 LIMK1 RFC2 PSMD12 ANO5 RTTN COL6A2 FLT4 ACTA1 SELENOI FKBP10 GBA2 GTF2I CLCN5 KLHL9 POU3F4 ELN C19orf12 KIF1A SCN9A SCN1A NEB ESCO2 CLIP2 COL12A1 GABRG2 ADGRV1 RETREG1 ZFYVE27 MYH7 CHMP1A ADGRG1 COL6A3 CYP2R1 PNPT1 HCN1 WNK1 MAFB VDR MFN2 ERLIN2 LGI4 RPL10 SPG11 BPTF GJC2 SPART SLC39A14 SELENON DAG1 HTT COL6A1 RAB3GAP2 CYP27B1 NT5C2 SAMD9L DPM1 MMP2 MYL2 NOG FIG4 RAB18 GABRD UCHL1 REEP1 SPAST MAN2B1 CAPN1 STX1B TBL2 KIF5A CAPN3 FA2H CYP7B1 TPM2 SLC52A3 RTN2 COL10A1 PIGT STUB1 FLNA NIPA1 HUWE1 GDF5 BAZ1B ANO10 SCN2A PSAP TIMM8A GALC ATL1 TPM3 HACD1 VEGFC PYCR2 ITGA7 TOR1AIP1 ATP6AP2 SCN1B MAP3K20 NONO GTF2IRD1 PSAT1 SLC34A3 SPTBN4 HP_ENLARGEMENT_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_ANKLES VDR SLC34A3 CYP27B1 CYP2R1 CLCN5 MYH7 HP_ULNAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_BOWING FLNA PCNT COL11A1 SHOX CHST3 POR HOXA11 RECQL4 SCARF2 FGFR2 MMP13 HP_DIAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_SCLEROSIS ANO5 GNAS STX16 TNFSF11 SOST CA2 TGFB1 MTAP HP_ENLARGED_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_JOINTS CCN6 LIFR SRCAP CHST3 TRPV4 MATN3 COL2A1 COL11A2 HOXD13 HP_FIBULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_HYPOPLASIA SLC35D1 BMPR1B GPC6 SMOC1 INTU DYNC2H1 COL11A1 INPPL1 AFF4 EIF4A3 SOX9 PTH1R BHLHA9 SF3B4 FLNA SHOX IFT122 GDF5 MET ATR AMER1 ZBTB16 HP_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROPATHY CCN6 HAMP ANKRD55 MMP14 CD247 ATL3 HPGD STAT4 BMP2 HFE ELP1 IL2RA COL11A1 ENPP1 TNFAIP3 MEFV PTPN2 ANKH ALPL F8 NTRK1 NOD2 COL2A1 HJV IL6ST TRPV4 NLRP1 MMP2 CHST3 DMP1 PRG4 IL2RB SAMHD1 HGD PTPN22 HP_HUMERORADIAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HUMERORADIAL_SYNOSTOSIS TBX15 NOG GDF5 PTDSS1 POR FGFR2 CYP26B1 WNT7A FGFR1 FGF9 DONSON HP_ABNORMALITY_OF_THE_SHOULDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SHOULDER TRMT10A SEMA3E TBX5 CHST3 LIMK1 RFC2 BCOR FLNA B3GAT3 ELN SGCA TNNT1 TRPV4 TMTC3 PRNP MLXIPL RECQL4 NGLY1 GTF2I COMP SPRTN GDF6 TBL2 LMNA PPP1R15B RBM8A MYH3 ARF1 GNPTAB EFNB1 HHAT MEOX1 PTCH2 ERGIC1 CLIP2 COL12A1 IRX5 LMX1B RNU4ATAC AEBP1 ERMARD MYH7 CHD7 GSC DYM NAA10 HSPG2 BAZ1B RUNX2 PIEZO2 TPM2 LGI4 PTCH1 EYA1 SCARF2 GDF3 ATP7A CUL4B ARFGEF2 PAX1 OTUD6B GNE NEDD4L COL1A2 GTF2IRD1 MAP1B SUFU ORC1 HP_SHOULDER_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_FLEXION_CONTRACTURE TNNT1 COL12A1 RNU4ATAC HSPG2 MYH3 HP_ABNORMAL_PATELLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATELLA_MORPHOLOGY NOTCH2 LIMK1 RFC2 SMARCC2 FBN2 ARID1B TBX4 RECQL4 RBM8A GTF2I KIF22 LMX1B FLNB EP300 SMARCD1 ELN GDF5 CLIP2 COL12A1 COMT EXOC6B TBC1D7 GMNN CHRNG BPNT2 JMJD1C CHST11 ORC6 CANT1 KAT6B LMBR1 SOX11 HIRA RREB1 STXBP1 ARFGEF2 RNU4ATAC CREBBP ORC4 TBX1 ORC1 XYLT1 PITX1 SHOX SOX4 FLNA FZD2 DONSON YY1 ESCO2 TMTC3 SLC26A2 SMARCB1 CDT1 TBL2 ARID1A MIR140 ARF1 SMARCE1 CDC45 ARVCF CDC6 ERMARD RYR1 RAB23 FKBP10 USP9X ARID2 BAZ1B SEC24C SMARCA4 ZSWIM6 BHLHA9 WNT7A OCRL EBP PRMT7 GP1BB NEDD4L GTF2IRD1 MAP1B UFD1 DPF2 HP_ULNAR_DEVIATION_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_WRIST FLNB TNNI2 PAX3 GALNS ASXL1 TNNT3 TPM2 MYH3 COMP GLB1 NALCN HP_ENLARGED_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_METAPHYSES CHST3 RNU4ATAC RPL13 B3GAT3 EXTL3 HP_ABNORMALITY_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERUS SHOX NOG TBX5 GPC6 FZD2 LMBR1 MYSM1 FGFR2 FLNB GNAS STX16 WNT7A RECQL4 RBM8A SLC26A2 POR FANCB POLR3A GDF5 EXT2 RNU4ATAC GNPAT FGFR1 ZIC3 DONSON SALL4 GSC TRPV4 CYP26B1 EXT1 GNPTAB TBX15 ATP7A RSPO2 FLNA PTDSS1 LONP1 TBX3 SNRPB IFT122 PITX1 TGFB1 IHH ALG12 AGPS FGF9 EZH2 MACROH2A1 DYM HP_PATELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_HYPOPLASIA PITX1 LMX1B TBX4 RECQL4 ZSWIM6 PRMT7 STXBP1 HP_LIMITED_KNEE_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_KNEE_EXTENSION SCN9A GABRA1 PCDH19 GPC6 STXBP1 DYSF SCN1B GABRD SCN1A HCN1 SCN2A MYOT GABRG2 ATP7A ADGRV1 EZH2 STX1B HP_MADELUNG_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MADELUNG_DEFORMITY SHOX EXT2 NIN GDF5 EXT1 GJA1 HP_ELBOW_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_ANKYLOSIS GDF5 PTDSS1 FGFR2 FGFR1 MUSK WNT7A NOG HP_FLATTENED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLATTENED_EPIPHYSIS CCN6 RAB33B GNPTG COL2A1 TRPS1 ACAN TBX4 EIF2AK3 TONSL SLC26A2 KIF22 SLC39A13 UFSP2 COL9A1 MIR140 IFT122 COL9A2 CANT1 CHST3 AIFM1 SLC10A7 MMP13 HP_HYPERCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCALCEMIA MDH2 SDHD DNMT3A CDC73 RET LIMK1 RFC2 VHL ELN DLST SDHB SDHAF2 GCM2 MLXIPL GTF2I TRIO TBL2 NF1 CDKN1C SDHA PIGT PIK3C2A CDKN1B ALPL MAX SLC12A1 CLIP2 KIF1B TMEM127 PTH1R CASR EPAS1 AP2S1 PDGFRB BAZ1B SLC25A11 HLA-DRB1 MEN1 NOTCH3 GDNF GNA11 BTNL2 SDHC FH SLC34A1 CCND1 CDKN1A GTF2IRD1 CDKN2B CDKN2C COL10A1 CYP24A1 HP_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLYCEMIA ITPR3 PDX1 SCN4A ABCC8 PTPN22 APPL1 INSR HYMAI GYS2 PAX4 LMNA KCNE3 AFF4 ZFP57 KCNJ11 INS KLF11 CACNA1S PLAGL1 ZMPSTE24 HNF1A PPARG CEL IL6 GATA6 RFX6 GCK HNF4A STAT3 PTF1A LRPPRC KCNJ18 ARMC5 NEUROD1 EIF2AK3 BLK SHPK ACAT1 PIK3R1 GLI3 GABRA3 HP_HYPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPROTEINEMIA RAG2 ACADVL ALB LAMB2 PRF1 UBR1 RAG1 B2M DPAGT1 NPHS1 SLC25A13 DCLRE1C TMPRSS15 CD55 HP_GLYCOSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLYCOSURIA GATM APPL1 SCO1 ETFDH PDX1 ETFB ABCC8 FAN1 COX6B1 COA8 GYS2 PAX4 KCNJ11 CLCN5 ALDOB KLF11 COX14 SLC16A12 PLAGL1 TACO1 ATP7B COX8A EHHADH HNF1A SLC5A2 INS CTNS HNF4A CEL GATA6 GCK SLC34A1 PET100 STAT3 SLC2A2 ZFP57 COX20 COA3 NSMCE2 NEUROD1 EIF2AK3 ETFA HYMAI BLK MT-TN HNF1B SLC5A1 COX10 LMNA HP_HYPERLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPIDEMIA PLIN1 JAG1 CAV1 PRF1 PIGH BSCL2 LDLR PSMB9 LPL PHKA2 CPT1A SGPL1 SLC25A13 ADCY3 EMD ALB ZMPSTE24 PIGT PPARG LCAT XRCC4 ALMS1 TMEM43 LMNA XIAP DEAF1 NPHS1 APOE SLC37A4 LDLRAP1 RAI1 APOC3 SYNE2 SLC29A3 G6PC STXBP2 RAB27A GLA AKT2 APOB TTPA LEP AEBP1 PHKG2 CETP CFH LRP6 CFHR1 ABCG5 LIPE SMPD1 LIPC AGL SYNE1 FLII CYP19A1 LEPR LMAN1 CIDEC PLVAP GYS2 POLD1 FHL1 HMBS GPD1 HAVCR2 STX11 CYP7A1 ABCG8 ABCA1 CEP19 RSPO1 POLR3A DGAT1 APOA5 PSMB8 AGPAT2 PSMB4 PNPLA2 APOC2 NPHS2 LIPA MC4R IQSEC2 PYGL SLC7A7 PCSK9 CAVIN1 FOS ABHD5 TFG GK MYO5A DCAF17 UNC13D ACTN4 NSMCE2 MCFD2 FECH CFHR3 HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE DDB2 ERCC5 XPC ERCC6 ERCC3 TARS1 MPLKIP ERCC2 ERCC4 GTF2E2 XPA GTF2H5 RNF113A HP_FRACTURES_OF_THE_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRACTURES_OF_THE_LONG_BONES TBCD TAPT1 TNFRSF11A SQSTM1 CLCN7 MTAP HP_ACROMESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMESOMELIA NPR2 GDF5 NGLY1 RAC1 KIF15 HP_HAMSTRING_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMSTRING_CONTRACTURES ACTA1 OPA1 CAPN3 ANO5 SELENON HP_SHORT_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FEMUR TBX15 TAPT1 FLNB DDRGK1 POLR3A GDF5 IHH RNU4ATAC SLC26A2 ALG12 AGPS TBX4 ZBTB16 FGFR3 COL11A1 PUF60 BHLHA9 HP_SLENDER_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_LONG_BONE CCDC8 TBCE OBSL1 PDGFRB PCNT P3H1 CUL7 MGAT2 HARS1 CDT1 PIGT KCNJ2 NFIX MUSK ORC1 CDC45 CDC6 FAM111A VAC14 B3GALT6 COL1A1 GMNN BRF1 ORC6 COL1A2 NSMCE2 MAFB ATP6V0A2 SCARF2 GLE1 ORC4 SON LARP7 RSPRY1 RAB3GAP2 FIG4 ERCC1 HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY KIF14 LIFR CEP152 FARSB SASS6 ADAMTS10 TAF13 PEX19 MAN2B1 KIF1A CLCN5 WDR62 MCPH1 SETBP1 NSDHL MFSD2A FBN1 STIL TNFRSF11A CDK5RAP2 SOST TGFB1 SCN9A LMNA SLCO2A1 PYCR2 METTL5 AGA TCIRG1 RETREG1 COPB2 LRP5 PTH1R COL1A1 PTDSS1 PLEKHM1 ASPM CEP63 CYP2R1 NCAPD3 WNK1 VDR ANKLE2 TENT5A CLCN7 CEP135 ENPP1 HPGD KNL1 PHC1 GLE1 CENPJ LRP4 ZMPSTE24 AKT1 TBXAS1 GJA1 FAM111A TBCE SLC34A3 CIT DMP1 ANO5 CYP27B1 LEMD3 FLNA MAP11 CDK6 SH3PXD2B TRPV4 HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION JAG1 CAV1 DHCR7 LDLR TMEM199 LPL PHKA2 SC5D SLC25A13 NGLY1 SAR1B EMD OCRL ALB PPARG LCAT ALMS1 TMEM43 DEAF1 MEF2A PCSK9 MSMO1 LMNA TDP1 APOE ABCA1 LDLRAP1 RAI1 APOC3 SYNE2 CAV3 PANK2 APOB GHR NSDHL DMPK TTPA CETP UBE3B PIK3R5 LRP6 ABCG5 SMPD1 LIPC ABCG8 CCDC115 SYNE1 FLII CYP27A1 NPC2 HSD3B7 ABCA2 PHKG2 ANGPTL3 CYP11A1 NUP107 FHL1 PEX12 CYP7A1 DHCR24 CEP19 RSPO1 DGAT1 CCT5 FLCN APOA5 APOA2 COG4 APTX LIPA PPP1R17 IQSEC2 APOA1 SLC7A7 UBR1 MTTP EBP DYRK1B PMM2 PYGL NPC1 SETX GPIHBP1 EPHX2 LBR HP_HYPERGLYCINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLYCINURIA GLDC SLC36A2 SLC6A19 SLC6A20 SLC6A18 ALDH4A1 AMT MCCC2 IVD PRODH PCCB PCCA ACADM GCSH HP_ABNORMALITY_OF_URINE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS GATM MICOS13 SMARCAL1 SLC34A1 KCNJ1 INSR IL17F AMMECR1 FKRP FAN1 SGSH CLCN5 NF1 SLC36A2 CD59 CTLA4 KCNJ11 OGDH HOGA1 FGF23 GATA3 SLC9A3R1 YAP1 CYP11B2 FXYD2 GNA11 MCCC2 GLA PIEZO1 MT-ND4 GPC3 SLC6A19 FAH AUH NUP133 PHOX2B MCEE LMO1 GRHPR BCOR MT-TK ERBB2 NPHS1 CFI SLC7A7 INS GBA EGF RPIA IRF2BP2 HIBCH SLC37A4 L2HGDH XDH CLCNKB CPS1 GNAS LMNB2 SUGCT PDSS2 PCCA CLDN16 NUP107 PFKM WT1 CASK GLB1 INPPL1 NUP93 GCM2 TIMM50 COX8A NRAS SLC19A2 AGA POU6F2 HGSNAT SERAC1 MARS1 AQP2 SCARB2 SLC25A20 FCGR2A RET ATP5F1D ARSB NPHS2 SLC2A2 GEMIN4 SLC25A11 OFD1 B2M OCRL TP53 ATAD3A ACAT1 PMM2 GTF2IRD1 MT-ND5 SLC22A12 SDHD LPIN2 ETHE1 GPC1 ERCC6 DLST COX6B1 MTR TK2 LMBRD1 GANAB COX14 ATP7B MUC1 SLC5A2 SUMF1 DGUOK COL4A3 SDHB GNAS-AS1 CLIP2 GCK PYGM STAT4 HLA-DRB1 GP1BA FGFR2 ZFP57 SLITRK6 CFH DIS3L2 ITGA3 SMAD4 MAFB PEX5 NEU1 ENPP1 CFHR5 PCK1 OTC OPA3 PKD1 PGAM2 PREPL ACADM IRAK1 CYP24A1 MDH2 GSN MT-ND6 DNMT3A G6PD PPOX FBP1 MT-TL1 NAGA HMGCL DDB2 SLC6A20 PAX4 WDR19 MEFV BCS1L PLAGL1 HNF1A TANGO2 ADAMTS13 PRDX1 MT-ND3 ALPL SLC12A1 CLDN19 COL4A1 OXCT1 PIGT AGXT ALK LAMB2 H19 FGA PYGL IRF1 ACAD9 ERCC4 MTRR PIK3CA MMADHC KIF1B ACTN4 IFT122 PAH CAMKMT STK11 BCKDHB ACSL4 TREX1 VHL ABCC8 IL17RC SLC34A3 DMD NGLY1 TACO1 CASR MT-TF ERCC5 GUSB KRAS TRPC6 CLCNKA AVPR2 GCDH PIGA F2 AP2S1 SLC7A9 HLCS MANBA ITGB4 PLOD2 UROS MT-ND1 ATPAF2 GDNF SCNN1A MT-TE LAGE3 COQ2 ATP1A1 CFTR SLC5A1 COX10 PHKA1 THBD MMUT F5 HAL SLC25A1 TCN2 HTRA2 ITGA2 GALNS ZBTB16 NAGLU COA8 FLT1 CFB ACADL HNF4A MMACHC ADCY10 HCFC1 CYP11A1 LRP2 GLDC PLCE1 PTPN22 BAZ1B FLAD1 MT-TS2 KRT8 GK BCKDHA CDC73 APC F8 APRT ASS1 COL4A5 TRIM28 ITGB3 HPD CLPB SLC12A3 KLF6 MVK ACSF3 GLYCTK GALT FAM20A HYAL1 ANO5 COL4A4 C3 HFE ERCC3 EHHADH HADHB TNFRSF11A POLG UROC1 HRAS SNAP29 HMOX1 FH BTNL2 FOXC2 OAT DNAJC19 TNFRSF11B KANK2 SLC3A1 TBC1D24 MPC1 CYP27B1 APPL1 COQ8B DDOST HMBS SLC16A12 GP1BB DLD SERPINF2 KRT18 HELLPAR GATA6 ATP5F1E CBS MT-TV SLC25A19 KCNJ10 SCNN1G CD46 TAT KCNJ5 HPRT1 SPINK5 CYP2R1 CYP11B1 GALE AMT MRPS2 SLC26A1 CTH NOS3 OSGEP SNX14 LIMK1 ALDH4A1 PDX1 SUCLA2 STAR LPIN1 MAGI2 LYZ STAT5B KLF11 SUOX ELN APOA1 NADK2 GSS NUP160 PCCB PNP STAT3 HSD3B2 TRNT1 WDR4 SAA1 HADH DBH ITGA6 XPC ERCC8 PSTPIP1 MT-TQ GCLC AGK ITGA8 MRAP VPS33A SLC6A18 LMAN1 PEX1 GYS2 MAN2B1 TMEM70 MT-CO3 ASL MTHFR LDHD CDKN1C SDHA MIR140 CORIN AGGF1 NUMA1 CA5A OPLAH TGFB1 SLC1A1 PTPRO PUS3 PAX2 GNPTAB SPP1 HLA-DPB1 ZAP70 SLC25A4 MEN1 LMX1B NPM1 MT-TH HGD PRODH MYH9 PHEX SLC52A2 RFC2 MCCC1 REST MMAA SGPL1 TSC1 MOCS2 IDUA TOP2A ALAD CD2AP CASP10 LMNA GALK1 NABP1 SLC25A15 FUCA1 COA3 G6PC INF2 SUCLG1 IVD HBB NEUROD1 PKD2 UMPS TRIP13 CTNS CACNA1S MT-CO1 TBL1XR1 IDS RYR1 CLDN10 PRTN3 SLC35A1 CNNM2 ETFDH F10 STX16 LCAT RMRP ARG1 PIK3C2A CPT2 IL17RA COQ6 MT-TW SPRY2 ERCC2 MT-CO2 STOX1 COX20 KCNJ18 GPHN NT5C3A PPM1B MAX MUTYH HNF1B HSD11B2 SLC25A21 TPRKB NPHP1 SCO1 NOTCH2 DHTKD1 SDHAF2 PGK1 ASPA TMEM127 PET100 DBT PML SCNN1B RRM2B GNS ACVRL1 BLK SDHC BLVRA NUP85 NR0B1 TP53RK BRCA2 ITGA2B LIN28B MAGED2 GCSH ANLN IDH2 SGCB TTC37 NIPBL MLXIPL TAZ APOE ALDOB MT-ATP6 FARS2 ABCC2 RARA EPAS1 CRPPA GLUD1 DGKE NSMCE2 FIP1L1 ISCU ETFA TXNRD2 MOCS1 MT-TN HLA-DPA1 IER3IP1 SLC52A1 TSC2 SLC25A13 TRAF3IP2 DMP1 FMO3 CYP21A2 MAF NNT BICC1 ETFB TBC1D8B ACADS MYCN GTF2I XPA PRKAR1A GDF2 MC2R MMAB SLC16A1 ALDH5A1 DNASE1L3 KCNE5 D2HGDH SH2B1 VPS13A PRPS1 CD320 FTCD FN1 WDR73 ABCD4 MYO1E CUBN GUCY2D TBL2 KYNU ACADVL CEL MT-ND2 PTH1R ARHGDIA HADHA GP9 HACE1 LDHA CD109 EIF2AK3 SARS2 ENG HYMAI TKT ZMPSTE24 DMGDH ACAD8 CLEC7A BTD BSND MCFD2 GATA1 GABRA3 HP_ABNORMAL_BLOOD_ION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_ION_CONCENTRATION KCNE2 GATM CDC73 SLC34A1 BCS1L LIMK1 KCNJ1 VHL DSG1 INSR SCN4A NAB2 SDHB SDHAF2 LPIN1 SLC34A3 CLCN2 CLCN5 NF1 SCNN1A CSF1R OSTM1 ELN CTNS EGF KRAS HADHA CLCNKA AVPR2 TMEM127 TDP2 CASR ABCB6 FGF23 SAMD9 CDKN1B SLC9A3R1 TTC37 HAMP CACNA1C CYP11B2 SCNN1B AP2S1 HSD3B2 FXYD2 ENPP1 CHD7 GNA11 CYP2R1 HFE TNFRSF11A SDHD GDNF ALDOB RREB1 KCNJ18 CYP11B1 DGCR8 SDHC FH ATP1A1 NOS1AP SLC39A8 CALM1 FAM111A AP1B1 NR0B1 CACNA1S CYP17A1 WNK1 CYP27B1 ALG12 TBX1 MAGED2 MEN1 ALAS2 MRAP SEMA3E VDR ESS2 CLCNKB CARD9 FARSB TBCE SCN10A GNAS PKLR COL4A3 PRKAR1A GALNT3 CLDN16 FGFR1 GCM2 CYP11A1 MLXIPL SLC30A10 INPPL1 FAM20C ACADVL KLHL3 CNNM2 CDKN1C NRAS SDHA TBX19 KCNJ2 ARVCF AKAP9 AQP2 NFKB2 TCIRG1 DMP1 DGCR6 RET SNTA1 SLC39A14 SLC2A2 EPAS1 TNFSF11 TFR2 COG2 BAZ1B SLC25A11 AP1S1 UBR1 TLR3 SNX10 TRAF3 CLCN7 TXNRD2 OCRL TP53 SCO2 ANK2 SMAD4 CDKN1A GP1BB GTF2IRD1 SCN5A UFD1 SLC12A3 CDKN2C COL10A1 CUL3 STAR CP CAV1 PRF1 PHEX PGAP2 NNT RFC2 TICAM1 FAH DLST CAV3 BMPR1A HBB GTF2I KCNJ5 KIF23 STEAP3 ATP7B FOXP1 ARNT2 NUP214 PIGT MC2R GNAS-AS1 HJV LMNA ORAI1 CLIP2 COMT SCNN1G SLC4A1 SKIV2L JMJD1C KCNH2 KCNN4 TRNT1 WNK4 PDGFRB HRAS SUCLG1 STAT6 NOTCH3 ATP6V0A2 USP8 PTH HIRA ADAMTS3 KCNQ1 HNF4A INVS CDH23 BTNL2 CACNA1D TNFRSF11B KCNE1 SLC3A1 CCND1 ALPL TRDN PREPL STX16 RYR1 CLDN10 CYP24A1 UNC93B1 MDH2 TBK1 DNMT3A ELP1 BMP2 PLVAP KCNE3 PDE4D FOXP3 TRIO NR3C2 TBL2 HMBS RMRP NR3C1 TMPRSS6 PIK3C2A CA12 AIP DGCR2 MAX SCN4B SLC12A1 CCBE1 ABCC6 KIF1B PIEZO1 PTH1R HSD11B2 GATA3 SLC26A3 TRPM6 CPOX SLC7A7 HLA-DRB1 SEC24C PPM1B CLDN19 KCNJ10 BTK SARS2 SLC2A1 ZMPSTE24 CALM2 HADHB IFT122 CDKN2B SPATA5 BSND FAT4 SLC30A9 SLC30A2 COL3A1 CAMKMT GABRA3 HP_HYPOCHLOREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHLOREMIA SLC12A1 CLCNKB CLCNKA SLC26A3 BSND KCNJ1 MAGED2 HP_ABNORMAL_ECHOCARDIOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ECHOCARDIOGRAM SLC25A4 PPCS FBN1 GTPBP3 RRM2B TWNK DYSF POLG2 LAMA2 FXN TTN POLG HP_ABNORMAL_CIRCULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_HORMONE_LEVEL TAF4B PLIN1 INSR PDX1 EIF2B4 GH1 FGFR1 ESR1 AFF4 FSHR REEP6 PRPF6 FSHB KLF11 KIAA1549 NLGN4X LHCGR NF1 PNPLA6 KISS1 PWAR1 NLGN3 SPRY4 TACR3 FGF8 FGF17 HSD3B2 GPR101 CHD7 RDH12 HADH BTK ZNF408 DBH NR5A1 MEIOB SH2B1 FMR1 GHR ANOS1 GDF9 LIPE FAM111A AKT1 CYP27B1 DUOX2 INS KMT2A CEP57 MRAP SEMA3E AMHR2 BMP15 BSCL2 SLC7A14 WDR4 GNAS FLNB MC4R WT1 AGBL5 GNRHR GCM2 WDR11 CDKN1C SDHA LMNA TBX19 DAXX MCTP2 BEST1 CRX NFKB2 NDN FANCI SOX3 RBP3 CNGB1 ZNF513 FLRT3 SLC25A11 KISS1R FOS CCDC141 SLC16A1 IFT140 CYB5A TBX2 DCAF17 OCRL TP53 CFTR SRD5A3 SUFU HFM1 MEN1 AGPAT2 OFD1 SRY MAGEL2 HS6ST1 ARL6 SDHC PPARG CDKN2C SOST NUP107 CDHR1 NF2 SNORD115-1 STAR PHEX CNGA1 DHDDS SMO DLST KIZ HNF1A DCC PRPF8 ARNT2 SOX10 POU3F4 BAP1 PROKR2 NEK2 GNAS-AS1 SIN3A SNRPN MAK BBS2 SYCP3 POR HESX1 VAMP7 CASR PRKACA POLR3H STAT6 NEUROD1 VDR ABCA4 C8orf37 USP8 DMPK PTH UCP2 LEP TRMT10A RNF125 GCK CERKL NRL ERCC6 TBX1 CDKN1B AIP FOXL2 PRKAR1A LHB PROM1 RBM28 DUSP6 SYCE1 PCSK1 MDH2 IMPDH1 CBX2 RNPC3 LEPR ALMS1 PRCD PAX4 STX16 RET PRPF4 CA4 LHX4 TUB EIF2B1 CAV1 AR TTC8 POLR3A BNC1 LHX3 NR2E3 HNF4A CLDN19 POLA1 PWRN1 PCARE RFWD3 CYP17A1 POMC GHSR USP9X PSMC3IP SLC7A7 CAVIN1 HGSNAT EIF2S3 IGF1R ABCC8 THRB TEX11 NSMF KIAA0556 MRPS22 GLUD1 KCNJ11 ARHGEF18 HSD11B2 PMM2 RP1 CDKN2B CLRN1 AHR TDRD9 POU1F1 EIF2B3 TEX15 NAB2 SDHB SDHAF2 VHL MPI SIM1 STAG3 SHROOM4 MAP3K1 GUCA1B ATRX PDE6G ZFPM2 SLC39A4 WWOX SLCO2A1 SDHD GLI3 PROP1 DMXL2 TOPORS IDH3B PDE8B B4GALNT1 TBCK GMNN PIK3CA SCAPER DHX37 ARL2BP HSD17B4 MCM8 CTDP1 PROK2 ZNF148 PDE6B BLK FH IL17RD NPAP1 MC2R WASHC5 FANCM NR0B1 TMCO1 PRPF3 KLHL10 SPATA7 YY1 CYP11A1 PPP2R3C SMPD1 SHH RPGR MECP2 PREPL POLE CDH23 NANOS1 ADAT3 TXNRD2 PDGFB NSMCE2 EIF2B5 AHI1 CDC73 EIF2B2 SAG TRAF7 GATA4 SLC29A3 HTR1A HERC2 GCGR CDKN1A CNBP TG ADNP FAM20A STAT5B TERT EYS RGR XRCC2 DHX38 IDH3A ZMPSTE24 TAC3 THOC2 PDE4D RNU4ATAC RHO SOHLH1 AIRE RP9 TMEM67 IARS2 KLHL7 SPIDR AMH AKT2 RLBP1 SMC1A AAAS NNT VPS13B DIS3L2 SMARCB1 GLI2 THRA SOX9 MKRN3 FOXA2 TMEM127 DHH USH2A RP2 IFT172 APPL1 SNORD116-1 CIDEC MARS2 FAM161A RPE65 PRPH2 ROM1 IGFALS MAFA NR3C1 SEMA4A ARL3 IGF2 TBCE CEL LRAT MAX ZMYND15 TULP1 SNRNP200 IFT88 DMRT3 KIF1B FSCN2 MERTK SEMA3A PDE11A OTX2 GNRH1 ESR2 IMPG2 POMGNT1 SMARCE1 HPGD CYP2R1 TP63 PRPF31 CYP11B1 TEX14 MCOLN1 WNT4 PDE6A FEZF1 PITX2 CRB1 HP_INCREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL HTR1A PRKACA NR3C1 PRKAR1A TP53 PDE8B PDE11A CDKN1B CDKN1A GNAS MEN1 CDKN2B CDKN2C RET AIRE HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION PLIN1 DHCR7 LIMK1 KCNJ1 PIGH PHKA2 PEX19 SLC25A13 ADCY3 SLC22A5 NGLY1 LTC4S MT-TE ALB PPARG ELN LCAT ALMS1 NADK2 PCSK9 LMNA TDP1 APOE LIPE ABCA1 RAI1 APOC3 SYNE2 SLC29A3 PHYH CAV1 CAV3 PANK2 TBCK HADH PEX26 GLA PNLIP APOB NSDHL BSCL2 AEBP1 PHKG2 CETP PLA2G4A UBE3B CFH PIK3R5 LRP6 PEX7 SMPD1 MT-TK ABCD1 PEX3 ABCG8 AGL SYNE1 SLC37A4 CYP19A1 XRCC4 NPC2 HSD3B7 LMNB2 LMAN1 CIDEC GYS2 CYP11A1 FBN1 HMGCL KCNJ11 ACADVL GPD1 HAVCR2 CYP27A1 PEX12 NUP107 STX11 CYP7A1 ACADL TRMU ABCC8 RSPO1 PEX1 PEX13 DGAT1 FLCN APOA5 SLC25A20 PSMB8 LDLR PNPLA2 APOC2 APTX NPHS2 MC4R PPP1R17 IQSEC2 BAZ1B UBR1 LDLRAP1 FOS ABHD5 GK TNPO3 MYO5A MTTP GHR DCAF17 OCRL EBP UNC13D PEX2 AGPAT2 SLC52A1 PMM2 GTF2IRD1 PEX16 CAVIN1 PEX11B PYGL NPC1 GPIHBP1 LBR TANGO2 PEX5 JAG1 SPIB PRF1 RFC2 PSMB9 TMEM199 LPL CPT1A SC5D SGPL1 HNF1A SAR1B GTF2I EMD ZMPSTE24 PIGT TMEM43 XIAP DEAF1 MEF2A CLIP2 MSMO1 NPHS1 PEX6 G6PC STXBP2 POU2AF1 RAB27A AKT2 DMPK TTPA UCP2 LEP HNF4A CFHR1 ABCG5 ACADM LIPC IL12A CCDC115 FLII LEPR MT-TL1 PLVAP ABCA2 ANGPTL3 ACOX2 IL12RB1 PEX10 TBL2 POLD1 FHL1 HMBS PEX14 ACAD8 DHCR24 DLD CEP19 POLR3A CPT2 CCT5 SLC12A1 MMEL1 PSMB4 PLA2G7 AR APOA2 COG4 LIPA IRF5 ACAD9 APOA1 SLC7A7 TFG CTNS TNFSF15 ACTN4 DYRK1B NSMCE2 MCFD2 FECH CFHR3 SETX EPHX2 HP_LIMB_JOINT_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_JOINT_CONTRACTURE GLI3 PDX1 MYBPC1 FKRP KCNAB2 FBN2 PLEKHG5 LMNA LMBR1 KCNJ11 KLHL9 MAP3K7 GPC3 SLC6A9 UPF3B ARID1B MYH3 ATR HOXD13 MED25 STAT3 SYNE2 CHRNG BICD2 ORC6 PNPT1 WDR4 COL11A2 GDF5 LGI4 GJA1 NUP133 TBX15 MEGF10 PIEZO2 TELO2 ROR2 TNNT1 WDR26 COL17A1 DAG1 SDHB COL6A2 NLRP3 NT5C2 HRAS SYNE1 SLC35A2 MMP2 TFAP2A FGD1 SRCAP BCOR COL6A1 ZC4H2 ESCO2 NUP107 GPC4 L1CAM IRF5 TMEM70 SELENON PAX3 KIAA0319L SKI SEPSECS UNC80 CAPN3 EMG1 NOD2 PSMB8 COL2A1 CRPPA KLHL7 KIF5A TBR1 MAPK1 GCK IGHMBP2 BRF1 RAB23 SLC18A3 ALDH18A1 SGCG KY ABCC8 NTNG1 MYO9A ABHD12 CNTNAP1 NOG PLEC TOR1AIP1 SPTBN4 COL6A3 SDHD ALG14 GPKOW PIGY PORCN SDHAF1 SGCA ACTA1 FKBP10 TWIST2 PPP2R5D NALCN DPAGT1 LFNG ALX3 TMEM43 DVL1 NEB EXTL3 SLC25A19 PHF6 ERCC2 POR EMD ACTG2 GMNN DOK7 DDHD2 ZFP57 HLA-DRB1 C19orf12 COL12A1 PEX5 ERCC6 MAFB OSGEP FLNA ERLIN2 CNTN1 AUTS2 BCR TGFBR2 DVL3 PTDSS1 NAA10 DDR2 FKTN TPM3 EZH2 DPM1 SMARCAD1 B3GAT3 TRPS1 FGFR2 KCNK9 ZMPSTE24 RYR1 SH3PXD2B HINT1 PLAGL1 RNU4ATAC ATP6V1E1 TCTN3 PIK3C2A POLR3A CPT2 CDC45 EFNB1 TTN CDC6 CAV1 CCBE1 MED12 PIGN RPL10 ITGB4 NSUN2 BMP4 GFPT1 ALX1 TPM2 ARX FLVCR1 NUP88 CCN6 RIPPLY2 LIFR GMPPB ERLIN1 PHGDH RTTN KAT6B NGLY1 SPRTN ALG2 CDH3 ZBTB20 TNNI2 HES7 FGFR3 SMG9 PYCR1 CLCF1 SLC10A7 AMER1 PRDM16 TUBB3 ERCC1 FZD2 HSPG2 CANT1 PLOD2 UROS SCARF2 ECE1 SPEG SLC39A8 PEX6 TBX3 MESP2 GTF2H5 P4HTM SLC26A2 TRIM2 NXN FIG4 NIPBL RERE ANTXR2 CDKL5 DHODH MECP2 INS GABBR2 ORC1 MBTPS2 TPRKB SLC39A13 MORC2 PRG4 ERCC5 IKBKG TRPV4 LAMB3 LAMC2 HUWE1 UBA1 GJB1 HACD1 SIN3A ASXL1 SHH SLC29A3 ITGA7 SMOC1 F8 TGFBR1 TP63 ZDHHC9 ADAMTSL2 PLOD3 MYH7 PSAT1 MYOT RAPSN SLC16A2 CRLF1 CHST3 ANO5 LAMA3 ADAT3 SRD5A3 SDHA ALG3 OCRL PIK3R2 STXBP1 MUSK GNPTAB ERGIC1 CRKL COG5 PIGL ECEL1 GJB2 ADAMTS3 PQBP1 SPG11 ORC4 WDR73 BIN1 DLL3 NSD1 XYLT1 OTUD6B COL11A1 MYL2 TP53RK MYOD1 CTDP1 SMAD3 WNT5A PITX1 CCN2 POMT1 KDM5C WNT7A SIK3 FHL1 CTCF LARGE1 OPA1 SUZ12 DHCR24 TGDS IL6ST SLC35A3 GABRD FERMT1 PTH1R MT-TE TNNT3 FBN1 CDT1 CCR6 HYMAI IDUA CUL4B ANKLE2 MAP3K20 SNRPB ALS2 LAGE3 FAT4 EED BAG3 PEX1 HP_HYPERCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHOLESTEROLEMIA LPL JAG1 CAV1 CYP27A1 PHKG2 LDLR TMEM199 PHKA2 LMNA SLC25A13 NUP107 OCRL ALB CYP7A1 ABCG8 CEP19 RSPO1 DGAT1 DEAF1 MEF2A PCSK9 TDP1 APOE LDLRAP1 RAI1 APOA2 APOC3 COG4 APTX LIPA PPP1R17 IQSEC2 CAV3 SLC7A7 APOB GHR DMPK TTPA CETP PIK3R5 LRP6 ABCG5 DYRK1B PYGL SETX CCDC115 EPHX2 FLII HP_HYPOCALCIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCIURIA AP2S1 FXYD2 FAM20A SLC12A3 CASR CLCNKB KCNJ10 CLDN10 GNA11 HP_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTIC_ACIDOSIS BCS1L SCO1 NDUFAF5 BCKDHB MICOS13 SUCLA2 MT-CO1 SURF1 TSFM ELAC2 MT-ND2 POLG TACO1 MT-TE LYRM4 MT-TF NADK2 PNPLA8 MT-ND3 YARS2 PCCB NDUFV2 BOLA3 PET100 MRPS14 COQ8A DBT TYMP MT-TC TRNT1 PDP1 RRM2B HADH COQ2 PUS1 MT-TK MT-TL1 MT-ND1 MT-ND4 ATPAF2 NDUFS3 TUFM NDUFAF8 WARS2 PHKG2 CYC1 AGK HSD17B10 COX10 MT-CO3 MT-TQ MPV17 PC NDUFAF6 NDUFB11 USP18 NDUFS1 SLC37A4 MRPS16 MT-TT DLD PDSS2 MT-CYB SFXN4 PCCA COA8 MT-TV LIPT2 TIMMDC1 NDUFB10 TAZ ALDOB COX8A FARS2 TRMU SERAC1 MLYCD LARS1 CA5A SDHAF1 OGDH ATP5F1D NDUFS6 FOXRED1 LRPPRC GTPBP3 NDUFA11 SLC25A4 MT-TS2 NDUFS4 NDUFAF4 ISCU BCKDHA UQCC3 EARS2 MT-TN FBP1 ACAD9 COQ9 SLC25A13 MRPS7 NDUFB3 RMND1 MIPEP MT-TH NDUFS8 NDUFAF3 LIAS TMEM126B COA6 TANGO2 NDUFS2 ETHE1 COX6B1 TK2 MT-CO2 LIPT1 COX14 MT-TW DGUOK HADHB SDHA NDUFA6 SLC25A19 LYRM7 UQCRFS1 COA3 G6PC TMEM70 PDHB IBA57 GFER SUCLG1 NDUFV1 PDHX COX15 FH MRPS34 PCK1 TKFC SLC3A1 TPK1 DNM1L MT-ND5 NDUFA1 PREPL SCO2 MPC1 MT-ND6 SDHD NDUFAF1 FBXL4 NDUFAF2 SLC25A3 LARS2 NAXE NDUFA10 ATP5F1E HADHA NDUFB9 PHKA2 COX20 PYGL SLC25A26 PPM1B PDHA1 SLC25A42 TRMT10C DLAT MTO1 NFU1 NDUFS7 AARS2 CAMKMT NUBPL HP_ABNORMAL_PERIPHERAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_MYELINATION TYROBP DNMT1 PSAP SH3TC2 C12orf65 ELP1 MPZ PMP22 ERCC6 GNB4 SURF1 MOCS2 ARHGEF10 FGD4 GDAP1 NTRK1 POLG NEFL PLEKHG5 UBTF EGR2 GALC ZNHIT3 PRX ABCA1 GCDH KLC2 NGF TYMP DHH INF2 WNK1 ARSA KIF1A SPG11 RRM2B KIF1C DCAF8 CTDP1 ERCC8 RETREG1 SBF1 MT-ND1 DNM2 NDRG1 MPV17 RAB7A HK1 TRIM2 FIG4 SLC12A6 LMNB1 ASXL1 SACS MT-ND4 LITAF KIF1B COQ7 FLRT1 MT-TL1 MT-ATP6 MT-ND3 MT-TK MT-TW FA2H SBF2 SOX10 MT-ND6 MORC2 GAN MT-ND2 MME APTX SCN9A MFN2 LRPPRC COX6A1 RAI1 SUMF1 MT-TV HSPB8 TFG GJB1 KCNJ10 MAT1A MTMR2 MOCS1 MTTP PMP2 FAM126A JPH1 LMNA PRPS1 MT-ND5 TPRKB NDUFAF4 HACE1 HP_CYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTINURIA SLC3A1 PREPL PPM1B SLC7A9 CAMKMT HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS GJB1 ATXN3 RRM2B TDP1 ATXN2 GCLC MAN2B1 ATXN1 PLP1 RNASEH1 HP_PROLINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLINURIA PRODH SLC36A2 SLC6A20 OPLAH SLC6A19 SLC6A18 ALDH4A1 HP_INCREASED_BLOOD_UREA_NITROGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_UREA_NITROGEN CFB FAN1 CFI CFH THBD CD46 ADAMTS13 C3 CFHR1 CFHR3 ELP1 DBH HP_PANHYPOGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOGAMMAGLOBULINEMIA TTC37 SP110 RFXANK SKIV2L RFXAP ERCC3 TARS1 MPLKIP RFX5 BTK RAG1 ERCC2 RAG2 CIITA DCLRE1C JAK3 GTF2E2 ZAP70 GTF2H5 RNF113A HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION SLC7A7 PCSK9 ABCA2 LDLR APOB TMEM199 LPL TTPA EMD FHL1 LMNA SMPD1 CYP7A1 ABCG8 LCAT CEP19 TMEM43 ABCG5 SLC25A13 APOE LDLRAP1 SYNE2 CCDC115 SYNE1 HP_INCREASED_SERUM_SEROTONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_SEROTONIN SNRPN NLGN3 DAXX SDHD MECP2 ATRX SHROOM4 NLGN4X HP_DECREASED_ADENOSYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADENOSYLCOBALAMIN MMAA PRDX1 MMAB LMBRD1 ABCD4 MMADHC MMACHC HP_HYPOCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHOLESTEROLEMIA PMM2 MSMO1 PEX12 SAR1B UBE3B ABCA1 HSD3B7 DHCR7 CCT5 FLCN HP_GLUTARIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUTARIC_ACIDURIA D2HGDH DNAJC19 HMGCL SUGCT GCDH ETFDH ETFA ETFB HP_INCREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ACTH_LEVEL MRAP HSD3B2 NR3C1 CYP11B1 DAXX AIP ATRX POR MC2R CYP17A1 CYP11A1 USP8 HP_HYPOSTHENURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOSTHENURIA SLC12A1 AQP2 NPHP1 AVPR2 KCNJ1 HP_HYPEROXALURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROXALURIA AGXT HOGA1 SLC26A1 GRHPR PEX1 HP_FASTING_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPOGLYCEMIA INSR PHKG2 IARS2 PHKA2 SLC1A1 FBP1 TBX19 IGF2 GYS2 SLC25A20 HNF1A HNF4A PCK1 HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY ANOS1 FGF8 SOX10 WDR11 SEMA3A IL17RD SPRY4 FLRT3 DUSP6 PROKR2 NSMF TACR3 KISS1R CCDC141 CHD7 FGFR1 FEZF1 HESX1 HS6ST1 PROK2 DCC FGF17 HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL GNAS PHEX CDC73 PRKAR1A VDR STX16 PDE4D CYP2R1 GCM2 MEN1 CDKN1B CDKN1A GNAS-AS1 CDKN2B CDKN2C SOST CYP27B1 CASR HP_ABNORMALITY_OF_THE_ACETABULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ACETABULUM MMP2 POLR1A SMARCAL1 HYAL1 VPS33A CEP120 MYO18B SMAD3 GATA1 FKBP10 AP4E1 SERPINF1 FGFR3 EIF4A3 CENPJ INPPL1 SLC26A2 FBN1 MIR140 DDRGK1 WDR35 MATN3 EXTL3 CANT1 KIAA0586 WDR60 GPX4 COG1 COL1A1 HOXA11 COL10A1 RPS15A ARSB CHD4 PTH1R AP4S1 UFSP2 CSPP1 BGN FLNB RAB23 SLC35D1 HSPG2 COL1A2 TRPV4 IFT52 XYLT1 DYNC2H1 COL2A1 AP4B1 NANS GNPTAB TGFBR2 CRTAP AP4M1 FGFR2 TBX4 EVC EVC2 GLB1 DYM IFIH1 TRIP11 GUSB AP3B1 HP_ABNORMALITY_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_BONE ABCC9 CCDC8 HLA-DRB1 INPPL1 OBSL1 SMAD4 NSD2 GSC IRF5 RUNX2 INTU CUL7 KAT6B CCR6 TBX15 COL2A1 CAV1 CCN2 COL11A2 FRAS1 WNT7A FREM2 NELFA LETM1 ATP7A SETBP1 FGFR2 KIAA0319L GRIP1 MATN3 NKX3-2 RNU4ATAC FLNA DYM HP_ABNORMALITY_OF_THE_ISCHIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ISCHIUM ABCC9 LIFR CCDC8 HLA-DRB1 INPPL1 OBSL1 IRF5 IFT43 TRIP11 CUL7 COL11A1 KAT6B CCR6 TBX15 COL2A1 CAV1 CCN2 COL11A2 CDCA7 PAM16 FGFR2 KIAA0319L EXTL3 HP_HYPOPLASTIC_ISCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ISCHIA PAM16 ABCC9 CCDC8 INPPL1 OBSL1 FGFR2 IFT43 TRIP11 CUL7 COL11A1 KAT6B TBX15 COL2A1 COL11A2 CDCA7 HP_SQUARED_ILIAC_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARED_ILIAC_BONES PAM16 INPPL1 CEP120 LONP1 AEBP1 PTH1R HP_PROTRUSIO_ACETABULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUSIO_ACETABULI SMAD3 CRTAP MMP2 FKBP10 SERPINF1 FBN1 COL1A1 HSPG2 COL1A2 TGFBR2 HP_FLAT_ACETABULAR_ROOF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_ACETABULAR_ROOF BGN FLNB SLC26A2 CEP120 MIR140 DDRGK1 WDR35 SLC35D1 COL2A1 TRPV4 MATN3 IFT52 XYLT1 CANT1 GPX4 COG1 FGFR3 NANS TRIP11 GNPTAB DYM CHD4 INPPL1 HP_SHALLOW_ACETABULAR_FOSSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ACETABULAR_FOSSAE GNPTAB IFIH1 UFSP2 GATA1 SMARCAL1 RAB23 HOXA11 TBX4 HP_WIDE_PUBIC_SYMPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_PUBIC_SYMPHYSIS FRAS1 GRIP1 RUNX2 DYM FREM2 HP_DECREASED_HIP_ABDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HIP_ABDUCTION PIEZO2 CHST3 TPM2 PCYT1A TNNT1 HP_INVERTED_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVERTED_NIPPLES TCF20 WASF1 ATN1 INTU RFT1 WAC SLC25A46 ALG11 DPAGT1 NFIX PEX3 MAN1B1 COG7 PIGT PMM2 HNRNPK RERE EBF3 TBX3 ALG12 ACOX1 EZH2 SLC35A2 ALG9 HP_BREAST_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_HYPOPLASIA YY1 PROKR2 NSMF CHD7 FGFR1 ESR1 IKBKG TWIST2 FSHB GNRHR CDT1 DCC TP63 FGF17 WDR11 SOX10 KISS1 TAC3 ANOS1 TACR3 ANTXR1 HESX1 SPRY4 FGF8 EFNB1 SEMA3A USP9X FLRT3 KISS1R GNRH1 NIN CCDC141 HS6ST1 PROK2 IL17RD DUSP6 ORC6 ORC4 TBX3 FEZF1 ORC1 POC1A MAF HP_LONG_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NOSE POLE PIGS TWIST1 JAG1 ABL1 XRCC4 GJA1 NOTCH2 NBN KAT6B SLC9A6 AP1S2 AP4E1 FGFR2 SOX11 NOG ASXL3 EXTL3 THOC6 OPHN1 PIEZO2 ABCC9 ACTG1 SPATA5 RNU4ATAC SATB2 SETD2 ACTB MED12 SOX18 HP_ALLERGIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGIC_RHINITIS PLCG2 MS4A2 PGM3 IL4R SPINK5 COX4I2 PLA2G7 CARMIL2 SIK3 HP_SHORT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NOSE LIFR RSPRY1 ABCC8 GLI3 RAB3GAP1 GPC6 LIMK1 PPP1CB YWHAE RPS24 KRAS GATA1 SC5D PAFAH1B1 AFF4 MYMK FOXG1 KCNJ11 LTBP3 COG7 GPC3 ADSL SETBP1 CLP1 ELN FLNB PARS2 FOXH1 NXN DPM2 RPL5 YARS2 RAB3GAP2 CDON MED13L NIPBL POLR1A RPS26 RAI1 HRAS FUT8 FZD2 BPNT2 MEF2C EDA COX7B PAX3 CACNA1G PUF60 SHOC2 GMNN RPL26 PUS1 RPS29 TRIP11 FLNA INTS1 NCAPG2 COL11A1 ECE1 KIF1A UBE3B ROR2 BMP2 FGFR1 HDAC6 GJA1 TRIP12 RPS10 TCTN2 TMCO1 DCPS RIPK4 SPECC1L SMC3 ACTB KMT2A ZIC2 FBN1 ALG9 TRMT10A CEP57 PTCH1 TONSL CHST14 HSPA9 SLC12A6 LRP2 FLI1 GPC4 RPS7 MLXIPL SIX3 GAS1 RECQL4 DVL1 INPPL1 FAM20C BRAF GRIN2A CDKN1C MIR140 RAD21 COL2A1 NFIX SOX11 PIGN CASK NALCN MBD5 RPS28 SLC26A2 DISP1 APC TGIF1 GCK DSE RPL11 IQSEC2 DVL3 SLC2A10 VARS1 ASXL3 RAB18 ATP6V0A2 MAP2K1 BAZ1B TBC1D20 MPLKIP B3GLCT UBA1 PTH1R SIN3A IL1RAPL1 FGF8 MOCS1 STAMBP PIGO ZSWIM6 SMO WNT5A NEXMIF UBR1 ATAD3A ADAMTSL2 MAF PLOD3 SMC1A ERF GTF2IRD1 TDGF1 PEX6 FGFR2 ADNP VPS33A NRAS EFTUD2 PGAP2 CCDC88A RFC2 ATP6V1A SMOC1 RPS15A FAR1 GTPBP2 ADAT3 SYT1 MOCS2 WNT7A RNF13 GTF2I PPP2R5D ZNHIT3 BMPER DHCR24 PAM16 LRP4 FOXP1 PTEN PPP1R15B ZBTB24 MAP2K2 EXTL3 DEAF1 PDE4D ERGIC1 CLIP2 SHH MTOR INS RPL18 HOXB1 TCF20 NPR2 PIGV PLAA RPS27 TXNL4A TSR2 DNMT3B GBA CDCA7 DIS3L2 PLA2G6 GGCX MN1 GLI2 TRRAP DDR2 NFIA KIF22 CD96 ATRX OFD1 WASHC5 FLII SETD5 PDX1 EHMT1 ADA2 LONP1 CCDC22 AVP DPYD TRIO POU1F1 MARS2 ARSL FGD1 SLC25A24 RPS17 GATA4 ALDH6A1 PAK3 TBL2 CTCF NODAL HIC1 RPL35 TCTN3 MYH3 PYCR2 PHIP CHSY1 KIAA1109 CANT1 RPL35A AGA PIGT ATP6V1E1 BLM ABL1 RPL31 RPL15 RPS19 ZMPSTE24 SUFU COL11A2 PEPD KIF7 PRKAR1A TAPT1 BUB1B DLL1 RPL27 SON HDAC8 TBL1XR1 HP_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHY LIMK1 CFL2 MTAP NEB PSEN1 KCNAB2 MYH7 MT-ND1 NARS2 MT-CO1 PTEN SLC22A5 TIA1 RAF1 KLHL9 DNM2 NUBPL PABPN1 ELN TNNI3 FOXH1 ERGIC1 NDUFAF1 RRM2B MT-ATP6 SYNE2 MT-TC TRIM32 GFER DOLK DMD MT-TK MT-TL1 MT-ND4 RYR1 AK9 LMNA SLC5A7 AGK TNNT1 COLQ CASQ1 CCDC174 MT-TQ SDHB MT-CO3 GCLC NDUFS2 FHL2 MYBPC3 SYNE1 PTCH1 SCN4A CHST14 ACTN2 XDH BSCL2 POLG CAV3 COL13A1 MYMK COL6A1 HNRNPA1 AGL MAN2B1 SIX3 GAS1 SELENON DYSF CHRNE DNAJB6 PDE8B DES MT-CYB TPM2 LRP12 LAMA4 PRKAR1A CRPPA TGIF1 TRAPPC11 DSE TMPO TNNT2 SKI NDUFA11 LAMP2 ORAI1 ABHD5 SGCG FOS CISD2 OPA1 FGF8 PLEC PPARG AGPAT2 GNE HNRNPDL MT-ND5 GTF2IRD1 TPM1 COL6A3 MT-TH SDHD ALG14 TDGF1 HNRNPA2B1 MYO9A MT-RNR1 RFC2 INPP5K SDHAF1 SIL1 MYPN AGRN HAND2 ACTA1 TK2 SNAP25 B4GALT1 CRYAB MT-TW DPAGT1 B3GALNT2 TMEM43 NEBL STIM1 TAF1A CHRNB1 RBM20 CLIP2 SQSTM1 EMD XK MT-TS2 CAP2 CHKB CACNA1S AKT1 WFS1 PGAM2 MT-TF SLC25A1 ACADM LRP4 FKTN MYH2 CAPN3 MT-ND6 FLNC MT-ND4L MTMR14 FKRP FKBP14 SLC25A3 LMNB2 NODAL POMT1 CAV1 ABCC9 SLC18A3 CHRND PRKACA TKFC MT-CO2 TTN DNA2 ACAD9 TPM3 CTNS MGME1 MT-ND2 GFPT1 DSG2 ACACA SAR1B DLL1 SYT2 HADHB LAMB2 DNM1L SLC25A4 PRKAG2 CHRNA1 GMPPB NALCN KLHL41 VAMP1 MYO18B ANKRD1 PGK1 ALG2 ZBTB20 MT-TE COL6A2 FHL1 TAZ MT-TP SGCA YARS2 TCAP HADHA CPT2 CDON MYOT PRDM16 LMOD3 TXNRD2 HSPG2 ANO5 PUS1 MYF6 GATAD1 COL12A1 C1QBP VCL TNPO3 VMA21 MT-TI ZIC2 SGCB RAPSN TNNC1 TBCE RERE MT-TV POMGNT1 MUSK ADGRG6 ACADL TRMU TWNK MYH14 TPI1 DISP1 PNPLA2 BIN1 DOK7 POLG2 BAZ1B FLAD1 CENPF AP1S2 GK HACD1 ISCU ITGA7 SDHA PPCS PLN NDUFB3 RMND1 CAVIN1 TRIP4 NDUFAF4 MT-TT ADSS1 MSTO1 TANGO2 PANK2 BAG3 ACADS GTF2I EPG5 KBTBD13 PSEN2 UNC80 SHH VCP SCN5A NEFH LARGE1 VPS13A ACTC1 CDH23 ALPL GLI2 LDB3 GYG1 MYL2 SGCD CSRP3 PDE11A KLHL40 CHAT TBL2 GABRD RET SUFU POMT2 MAP3K20 MYH6 UBA1 NEXN ALDOA USP8 FGFR1 FXR1 HP_DECREASED_MUSCLE_MASS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MUSCLE_MASS SMS PANK2 MAP3K7 CHST14 CTBP1 RAB18 FUZ ATP6V1A SNORD116-1 SLC9A6 PTEN LAS1L POLG RUSC2 STRADA TGFB3 FBN1 NSD2 FUS SNRPN PWAR1 COL12A1 PWRN1 PIEZO2 NDN SPARC ECEL1 DSE TYMP ATP6V1E1 CHRNE FGFRL1 SPG11 VANGL1 ATP6V0A2 G6PC TBC1D20 GFPT1 RRM2B ALS2 AKT1 AP4E1 FSHB HERC2 CPLX1 COLQ NPAP1 HSD17B4 MKRN3 MAGEL2 GYG1 LETM1 SNORD115-1 SIGMAR1 TRIM2 FUCA1 HP_RAGGED_RED_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAGGED_RED_MUSCLE_FIBERS GMPPB MT-RNR1 MT-TL1 TWNK RRM2B POLG TK2 MT-CO2 MT-CO1 MT-TF ALG2 MT-TW DPAGT1 MT-TE PABPN1 AIFM1 MT-TN MT-TP SLC25A32 SPG7 MT-TQ TYMP MT-TC NEFH MT-TL2 COQ2 MT-TK MT-TS2 MT-ATP8 MT-ND1 MT-ND4 CARS2 MT-CO3 MT-ND5 MT-TH MT-TI SDHA MT-ND6 SDHD MT-CYB MT-TV CHCHD10 BCS1L MT-ATP6 TRMU MT-ND3 SDHAF1 MT-ND2 MYH7 POLG2 SLC25A26 MGME1 GFPT1 DGUOK EARS2 SLC25A4 ALG14 HP_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOLYSIS TANGO2 SLC12A3 POLG KCNJ18 DGUOK CTDP1 CPT2 LDHA MT-TW CACNA1S PGM1 LPIN1 SLC25A20 ISCU TSFM PGK1 BCS1L ACADVL TRAPPC2L RYR1 ACADL HADHB SLC25A42 PYGM CLCNKB AMPD1 PGAM2 HADHA ANO5 ATP5F1D XK GABRA3 FDX2 HP_SKELETAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_ATROPHY PFN1 GLE1 SGCD MTAP INSR NEB FRG1 PMP22 ERLIN1 NARS2 PLEKHG5 LMNA TIA1 CRPPA KLHL9 NEFL COG7 PNPLA6 PEX7 LARGE1 MAG LRSAM1 CD59 OGDH PON1 SACS ERGIC1 TPI1 TDP1 GBE1 ADSL GPR35 WASHC5 TK2 EGR2 PRPH SYNE2 PPARGC1A BICD2 LIMS2 MPZ C19orf12 DNA2 TRPV4 MT-ATP8 TPM2 GFPT1 HSPB3 VAPB AIFM1 RYR1 AK9 SLC5A7 VPS13A KIF1A TRIM32 HMGA2 TNNT1 COLQ POLG TCF4 SDHB COL6A2 SLC33A1 SLC7A7 COQ2 TTPA NDUFAF6 ATXN3 NEK1 SYNE1 KDM5C SCN4A TBCD PIEZO2 HK1 HSPB1 OPTN COL13A1 MYMK COL6A1 ZC4H2 REEP1 PHYH SFXN4 MYH7 HNRNPA1 AGL NDUFA12 WRN C9orf72 UNC13A SELENON CHRNG DYSF ALDH18A1 GYG1 CHRNE COL6A3 BBS4 CAPN3 PDE8B NALCN ANTXR2 LRP12 PSMB8 VRK1 PRUNE1 PRKAR1A SQSTM1 MME KIF5A MST1 TRAPPC11 ATXN1 IGHMBP2 APTX DYNC1H1 DMD RAI1 LAMP2 PHGDH SLC18A3 COA7 SLC25A4 ERBB4 UBQLN2 KY TOE1 ABHD12 MTMR2 CNTNAP1 LDB3 SALL4 PLEC LEMD3 BMP1 DGUOK ADSS1 FAM126A FARS2 ATAD3A JPH1 PNKP GNE HNRNPDL MYH14 GNAS ACTB SPTBN4 SDHD ZFYVE26 NUP88 HNRNPA2B1 TBC1D23 MYH3 CCNF ALS2 TARDBP SGCB DARS2 MYO9A MED25 TFG SEPTIN9 PIP5K1C SLC52A2 INPP5K SDHAF1 TTC19 C12orf65 SIL1 AGRN SPG11 ACTA1 SNAP25 BBS10 SLC39A13 BSCL2 DCTN1 RNASEH1 DNMT3B TMEM43 BVES BBS9 TREM2 SLC25A19 ATXN2 CHMP2B CHRNB1 PHF6 PYGM BBS2 FKTN PEX5 KLC2 DOK7 NEFH COL12A1 SOD1 INF2 MAFB STIM1 SUCLG1 MTM1 LZTFL1 NOP56 NEU1 MGME1 USP8 DMPK RBM28 FIG4 VCP RXYLT1 CEP126 DES TYMP NDRG1 SMCHD1 SLC25A1 ARSI ACADM LRP4 CCDC115 WDR81 RRM2B GARS1 PEX10 FLNC NAGA KCNK9 FKRP ATP8A2 ATP7A ERLIN2 FKBP14 MKKS SPART CFAP410 HINT1 POMT1 LTBP4 AIP TGFB1 CCT5 PYCR2 CHRND SMN1 TTN SBF2 B4GAT1 SOX10 CPT1A SLC52A3 PRKACA HUWE1 SIGMAR1 AP1S2 AMPD2 AR ARL6 ASCC1 NIPA1 TNXB ANO5 NGLY1 ATL1 CTNS FBLN5 MECP2 EPHA4 GJB1 NBN SYT2 LAMB2 ERBB3 DNM1L RTN2 ASAH1 FBXO38 SLC25A21 POLR3A CHRNA1 TNFRSF1B OPA1 TTC8 TRIP4 SH3TC2 CHCHD10 VAMP1 AARS1 DAO SURF1 DHTKD1 GDAP1 SPRTN SMN2 FHL1 RPS6KA3 PON2 SCN9A SGCA YARS2 VPS13D ABCA1 FUS MYOT COG8 BBS5 CAV3 B4GALNT1 POMGNT2 MSTO1 HSPG2 TBCK MYPN PUS1 MFN2 TPM3 SLC9A6 KLHL41 DCAF8 WARS2 LMOD3 SPEG PHKA1 DNM2 VMA21 MATR3 RAB7A PNPT1 PON3 AGTPBP1 MDH2 RAPSN COASY SUCLA2 MKS1 SLC12A6 TCAP YY1 CA8 MUSK CAPN1 GLT8D1 AFG3L2 PEX6 FXN POMGNT1 DAG1 CYP7B1 MORC2 GAN MAP3K20 PNPLA2 ANXA11 BIN1 FLNA CHN1 EXOSC3 GBA2 NDUFS4 TAF15 CTLA4 KIF1C WDPCP SLC46A1 SCO2 PFKM PLOD3 REV3L PRPS1 BBS12 CEP290 FAM111B CPT1C ENTPD1 PDK3 CUL4B SLC16A2 TUBB2B PLXND1 IFT27 SDHA FGD4 HARS1 SDCCAG8 EMD PTEN TBK1 PIK3R2 KBTBD13 PGAP1 ACADSB ZBTB20 PRX ATM COL4A1 RETREG1 BBS7 MPV17 TBCE STAC3 KLHL40 WNK1 YARS1 SCYL1 VLDLR DUX4 HEXB IBA57 SETX MT-TL1 BBS1 DHH ITGA7 CD28 GMPPB COL2A1 POMK CHP1 MYOD1 CPLANE1 SPAST PHKG2 PDE11A MYBPC1 NDUFA9 FBXL4 LITAF KIF1B SGCG ANG DNAJC19 CHAT FLRT1 C8orf37 NPHP1 POMT2 ADK MT-TE IFRD1 STUB1 PHKA2 BBIP1 B3GALNT2 HSPB8 PYROXD1 PLP1 PSAT1 IFT172 FLVCR1 MRE11 EXOSC8 GLB1 MCCC2 NDE1 DNAJB2 UBA1 B4GALT7 BAG3 LMNB2 HP_IMPAIRED_OXIDATIVE_BURST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OXIDATIVE_BURST NCF2 CYBB CYBA RAC2 NCF1 HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN5 TPP1 DNAJC5 CLN8 KCTD7 CLN3 CLN6 NDRG1 HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE NCF2 NADK2 CYBB CYBA NCF1 HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN5 DNAJC5 KCTD7 CLN3 CLN6 HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY MMAA PRDX1 MMAB MMADHC MMACHC HP_DICARBOXYLIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DICARBOXYLIC_ACIDURIA L2HGDH IDH2 D2HGDH SUCLA2 TCN2 ACAD9 ETHE1 HADH SUGCT ETFDH ETFB SUCLG1 MMAA ACADS SLC25A20 LMBRD1 HMGCL ETFA ACSF3 MCEE DNAJC19 PRDX1 ACADL ACAD8 MMAB CD320 SLC52A1 ACADVL MMADHC CPT2 POLG MMACHC ACADM MMUT SLC25A1 ABCD4 GCDH HCFC1 HP_GENERALIZED_AMYLOID_DEPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYLOID_DEPOSITION FGA APOA1 GSN B2M LYZ CST3 HP_HYPERGLUTAMINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLUTAMINEMIA ASL ASS1 NAGS SLC7A7 OTC HP_OROTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROTICACIDURIA ASL SLC25A15 UMPS SLC7A7 ASS1 ARG1 HP_ETHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ETHYLMALONIC_ACIDURIA ACADS ETHE1 ETFDH ETFA ETFB POLG HP_ABNORMALITY_OF_CHROMOSOME_STABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY FANCC FANCE BLM PMVK BAP1 FANCG FANCM ERCC4 FANCD2 TERT MAD2L2 SLX4 SMO FANCL HELLS RFWD3 XRCC4 RMRP LIG4 FANCF FANCI BRCA1 BRIP1 FANCA FMR1 ATM FANCB RNF168 PALB2 CDCA7 TCN2 DNMT3B PDGFB PIK3CA XRCC2 RAD50 SMARCE1 RAD51C BRCA2 ZBTB24 TRAF7 SMARCB1 UBE2T NBN SUFU AKT1 NF2 RAD51 HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS PALB2 BRIP1 FANCC FANCA BRCA2 FANCD2 FANCI FANCE HP_DECREASED_METHYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLCOBALAMIN MTR PRDX1 MTRR LMBRD1 ABCD4 MMADHC MTHFD1 MMACHC HP_HYPERNATREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERNATREMIA AVPR2 AQP2 ARNT2 FGFR1 DSG1 HP_DECREASED_HDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HDL_CHOLESTEROL_CONCENTRATION APOA5 SLC25A13 SMPD1 PPARG LMNA LCAT CEP19 ALMS1 APOA1 SLC7A7 ABCA1 APOE HP_HYPERMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETHIONINEMIA SLC25A13 FAH ADK TTC37 AHCY MAT1A CBS GNMT HP_INCREASED_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGG_LEVEL CASP10 IL7R CCND1 PGM3 FAS FASLG PRKCD IL2RG IFNGR1 RASGRP1 HP_EXTERNAL_GENITAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_GENITAL_HYPOPLASIA TAF4B PROKR2 KMT2D GLI3 THOC2 LIMK1 FMR1 SOX3 PHF6 DAZ4 KLHL15 PRRX1 CCDC141 FGFR1 KCNAB2 POMT1 PAFAH1B1 FBN1 B4GAT1 REEP6 PRPF6 FSHB RAB3GAP1 KIAA1549 TCF4 MAPRE2 GPC3 PNPLA6 LIG4 ARL6 KISS1 LARGE1 ELN ARID1B MED12 FOXH1 DPM2 PWAR1 NR0B1 IFT27 ATRX PORCN SPRY4 MYRF TACR3 FGF8 FGF17 HSD3B2 CHD7 COLEC10 GLI2 ORC6 RDH12 ZNF408 WDR35 MTM1 CEP41 FKTN MEIOB XPC ERCC8 ANOS1 PIEZO2 TRIM32 ROR2 FAM111A POLR1D HESX1 DAZ2 OGT SLC25A22 SETBP1 PTCH1 KDM5C USP7 SMCHD1 SEMA3E AR PIGQ XRCC4 SRCAP SLC7A14 BBS2 NEK1 GPC4 OTX2 NR5A1 SIX3 AGBL5 FRAS1 FKRP GAS1 GNRHR CHRNG DVL1 WDR11 BBS4 TREX1 CDKN1C SOX2 MEGF8 RAD21 MCTP2 RSPO1 DHODH BEST1 CRX TGIF1 NDN CTU2 PTPN11 SKI RBP3 CNGB1 RAB23 TSPY1 RAB18 PHGDH SOX9 ZNF513 FLRT3 TBC1D20 UBR1 KISS1R B3GLCT GMPPB IFT140 TOE1 CYB5A TSPYL1 C2CD3 ALKBH8 RNASEH2B DCAF17 CFTR LZTFL1 DHDDS WNT5A ALX4 CDON OFD1 MAGEL2 SMC1A HS6ST1 GTF2IRD1 ACTB ARX ROBO1 STAG1 TDGF1 CDHR1 SNORD115-1 MYH3 RPL10 CNGA1 RFC2 DMXL2 INPP5K SIL1 ERCC6 KIZ SGPL1 TWIST2 CCNQ BBS10 FGFR2 DCC PRPF8 GPR161 SOX10 RAB3GAP2 NEK2 IRF6 BBS9 SIN3A SNRPN MAK CUL7 CLIP2 SYCP3 POR VAMP7 PIGP GMNN CRPPA FANCL SMAD4 GRIA3 SRD5A2 ABCA4 C8orf37 GHR DKC1 LEP ADAR STXBP1 IFIH1 DVL3 RXYLT1 NECTIN1 CERKL NRL SRY STT3A POLR1C TRRAP GNAO1 RAD51C LHB PROM1 WDR34 DUSP6 SYCE1 CHRM3 EHMT1 PHF8 IMPDH1 CDH11 HOXD13 LEPR MKS1 ALMS1 PRCD FZD2 SIX6 DDB2 GNRH1 GRIP1 SLC25A24 MKKS PRPF4 NODAL CA4 DYNC2H1 LHX4 KCNA1 TUB TCTN3 RNASEH2C TTC8 CDC45 KIAA1109 CDKL5 NR2E3 CDC6 ERCC2 POLA1 PWRN1 PBX1 KMT2A HUWE1 PCARE SATB2 CYP17A1 CILK1 INTU TUBB NEUROD2 HGSNAT EIF2S3 BMP4 TEX11 FAT4 NSMF KIAA0556 TAPT1 ERCC4 DLL1 ARHGEF18 PMM2 RP1 STT3B ISL1 CLRN1 AHR HDAC8 TDRD9 THOC6 POU1F1 DHCR7 TEX15 YWHAE MNX1 RTTN SC5D IFT80 MAP3K1 ERCC5 GUCA1B PDE6G ZFPM2 CCDC28B SLC39A4 WWOX HERC1 AXL RNU4ATAC NIPBL BBS7 SAMD9 PROP1 CHD4 SLC29A3 PRDM16 COX7B TOPORS BBS5 IDH3B POMGNT2 HSPG2 NEB SCAPER DHX37 ARL2BP MCM8 POLR3B CTDP1 MBTPS2 PROK2 CYP11B1 ECE1 PDE6B UBE2A UBE3B FEZF1 IL17RD SAMHD1 PEX6 TBX3 NPAP1 DCX SCN2A FANCM RIPK4 PRPF3 ALG12 FIG4 SMC3 B9D2 PRKDC ZIC2 KLHL10 SPATA7 CASK RSPO2 NXN TBCE RERE ACTA1 GATA4 MAP3K7 CYP11A1 ANK1 MLXIPL HOXA13 WDR60 FREM2 SALL1 INPP5E ALOXE3 PSMD12 RPGR POMGNT1 ORC1 PIGA TP63 DISP1 RYR1 POLE NANOS1 PTDSS1 BAZ1B UBA1 AHI1 KCNJ6 TRIM8 POMT2 DDX3Y SAG WDPCP NDUFB11 HERC2 SMO IER3IP1 BBS12 CEP290 CUL4B DACT1 TMEM216 MBD5 KIAA0586 EYS ADAT3 WNT7A RGR GTF2I XRCC2 XPA KLHL41 LMX1B SDCCAG8 LAS1L ERCC3 DHX38 IDH3A TAC3 RNF113A OPHN1 RHO SHH COG5 ZBTB16 ECEL1 SOHLH1 COL4A1 RP9 LMOD3 SRA1 KLHL7 USP9Y EZH2 TCOF1 KLHL40 RLBP1 KAT6B RLIM PQBP1 DIS3L2 DNAJC19 ORC4 MKRN3 ARCN1 FOXA2 WT1 BBS1 EBF3 USH2A NSD1 POC1A WASHC5 RP2 SETD5 POMK CCDC22 PHF21A IFT172 ARNT2 PNKP SNORD116-1 RBMY1A1 DAZ1 FAM161A EXT2 RPE65 PRPH2 ROM1 SIK1 LHCGR DAG1 ATP6V1A TBL2 CTCF HCCS SEMA3A NPHP1 SUZ12 SEMA4A ARL3 LRAT ZMYND15 GABRD TULP1 SNRNP200 IFT88 DMRT3 VAC14 GBA2 DAZ3 FSCN2 MERTK RNASEH2A BBIP1 B3GALNT2 ESR2 CDT1 IMPG2 SUFU PSAT1 KIF7 BUB1B PRPF31 TEX14 KDM6A MAMLD1 SCN1B TBL1XR1 EED PDE6A FXR1 CRB1 PEX1 ALOX12B HP_OVERGROWTH_OF_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA IGF2 KCNQ1 CDKN1C KCNQ1OT1 INSR HP_MALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_INFERTILITY PPP2R3C PTPN11 CYP19A1 CATSPER2 AMHR2 SPEF2 DAZ4 RBMY1A1 DAZ1 NR5A1 GCM2 PMFBP1 SRY LHCGR MAP2K1 SUN5 STRC MAP3K1 CATSPER1 ZFPM2 WWOX NR0B1 TTC29 FCGR2A DMRT3 VAMP7 DAZ3 DNAI1 TGFB1 FANCA AMH USP9Y TSPY1 AURKC DNAAF5 ADGRG2 DHX37 ARMC2 CTNS DDX3Y GATA4 SPATA16 SOX9 CFTR BRAF DNAI2 WT1 DAZ2 TEX11 HP_ABNORMALITY_OF_DNA_REPAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DNA_REPAIR FANCC DDB2 FANCA ERCC5 XPC ERCC6 ERCC3 TARS1 FANCD2 MPLKIP ERCC2 FANCE ERCC4 GTF2E2 XPA GTF2H5 RNF113A HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE PRF1 ATP6V1A GPC1 GNE SPTB PGM1 F7 GGCX EPB42 MPI SERPINC1 NGLY1 STAT5B MCFD2 PRKAR1A MAP2K1 OSTM1 XIAP DPM2 ANO6 LMNA NABP1 FLNA SLC30A10 VWF GPR35 PML GP1BA SLC25A15 GFI1B F2 COG8 GNA14 F10 NBEAL2 RFT1 F8 HADH STAT3 CFH TFAM ATP6V0A2 PROC ALDOB CACNA1S PLG FGG VKORC1 SRD5A3 TBL1XR1 FGA AKR1D1 BRAF TCF4 F5 PROS1 GP9 BCOR F12 ITGA2B MPDU1 RYR1 CFI IRF2BP2 DPM1 PTPN11 LMAN1 HSD3B7 HMGCL ZBTB16 DDOST F9 MGAT2 AHCY FGB BCS1L HAVCR2 SLC4A1 GP1BB STX11 SPTA1 AGA SERAC1 HELLPAR LARS1 NUMA1 RARA F11 MST1 SSR4 ALG6 COG4 ATP6V1E1 NBAS F13A1 ACAD9 SLC7A7 CYP7B1 DPAGT1 TRMU FIP1L1 NR1H4 CD46 F13B ZMPSTE24 UNC13D NPM1 SLC25A13 ANK1 PMM2 AMACR ITGB3 EFL1 HP_INCREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGA_LEVEL IL7R IRF5 SPIB POU2AF1 MVK FAS TNPO3 IL12RB1 FASLG WAS CASP10 CCND1 TNFSF15 PGM3 PRKCD NLRP1 RASGRP1 MMEL1 IL12A HP_NEONATAL_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPERBILIRUBINEMIA EPB41 SLC4A1 KCNN4 FBP1 IGF1 SPTA1 GYPC UGT1A1 SPTB PIEZO1 GPX1 UBE2A HP_ABDOMINAL_DISTENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_DISTENTION TSHR DLL3 SLC26A4 GBA FREM2 SMARCAL1 SPIB PROP1 INSR SPTB PSAP POU1F1 LHX4 EPB42 IFT80 SEC63 TPO FLI1 POLG BMPER FLNA TSHB SPINT2 FOXE1 GNPTAB NPHS1 MYH11 STAT4 SLC26A2 SLC37A4 MYLK GNE BRCA1 ACTG2 SLC5A5 POLG2 TYMP INHBA G6PC POU2AF1 IFT52 WDR35 ITGB4 VDR TRIP11 EPHB4 ITGA6 PRKCSH TTC7A RRM2B DUOX2 WT1 HESX1 ALDOB DDRGK1 STX3 COL2A1 SLC5A1 NKX3-2 LHX3 PAX8 RET WDR34 TCTN2 CYP27B1 IRAK1 IL12A MYO5B ZEB2 MTOR LMOD1 IYD NKX2-1 TG PHKG2 COL11A1 FSHR SMPD1 WDR60 IL12RB1 INPPL1 SLC4A1 SPTA1 DYNC2H1 KRT18 MNX1 LIPA MMEL1 ARSA NKX2-5 SLC2A2 PHKA2 SLC9A3 SLC26A3 PYGL IRF5 EWSR1 KRT8 MESP2 TRMU PTH1R COL11A2 SPP1 TNPO3 CYP2R1 LRP5 SAR1B ALG8 TNFSF15 DUOXA2 IFT122 ANK1 HP_HIP_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_CONTRACTURE PIGY MMP2 MYL2 NALCN MAP3K7 RNU4ATAC ESCO2 TNNT1 ACTA1 FKBP10 FBN2 SELENON ZBTB20 SLC6A9 F8 UNC80 MYH3 GNPTAB TTN SPEG TPM2 SLC10A7 COL2A1 PTH1R TRPV4 BICD2 PNPT1 HSPG2 RYR1 KAT6B TPM3 ERLIN2 LGI4 HACD1 ITGA7 TELO2 MAP3K20 BIN1 SLC26A2 HP_NARROW_PELVIS_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PELVIS_BONE IDUA BGN RSPRY1 BMPER POR FGFR2 PCNT PTH1R HP_LOW_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ALKALINE_PHOSPHATASE ABL1 PIGS ALPL PIGT CEBPE SLC39A4 BCR HP_SPINA_BIFIDA_OCCULTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINA_BIFIDA_OCCULTA CCL2 RIPPLY2 SOX4 LIMK1 RFC2 MASP1 FLNB KCNH1 SMARCC2 RAF1 COL1A1 LIG4 ARID1B ZIC1 RECQL4 GTF2I CCNQ CHRNG SMARCB1 TBL2 ARID1A EP300 SMARCD1 HES7 POLA1 LFNG ELN BRAF MYH3 NEK9 SMARCE1 IRF6 PTPN11 CUL7 CLIP2 PORCN AMER1 IKBKG TBXT COL5A2 SALL4 VANGL1 COLEC10 RAB23 CHN1 MAFB ARID2 BAZ1B NOTCH2NLC TBX6 RUNX2 FIBP CCBE1 SMARCA4 TNXB FUZ B3GLCT DACT1 SOX11 PUF60 COL5A1 VANGL2 NSUN2 BMP2 CREBBP MESP2 COLEC11 GTF2IRD1 ACTB TBC1D24 DLL3 DPF2 HP_OVOID_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOID_VERTEBRAL_BODIES ABCC9 SMARCAL1 NPR2 SLC35D1 GALNS GNS IHH FN1 NAGLU SGSH COL2A1 TBX15 COMP FBN1 GNPTAB GLB1 SRP54 LTBP3 ZMPSTE24 UBE3B MIR140 HGSNAT KCNJ8 MATN3 LMNA SBDS PCYT1A B3GALT6 POP1 ARSB DNAJC21 HP_IRREGULAR_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_VERTEBRAL_ENDPLATES COL9A1 LOXL3 COL9A3 SLC29A3 COL2A1 TNFRSF11A NANS COMP EIF2AK3 COL11A1 KIF22 TRAPPC2 ZBTB20 RNU4ATAC POLR3A PDE4D ACP5 CHST3 COL9A2 SLC39A13 GORAB SLC10A7 EXOC6B COL10A1 B3GALT6 GNPAT PAPSS2 MMP13 TCIRG1 HP_SPONDYLOLISTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLISTHESIS ZNF469 MYH3 TGFB3 PABPN1 TGFB2 AGA FBN1 BMP2 RUNX2 COL2A1 IDUA CTSK SMAD3 MAN2B1 KANSL1 TGFBR2 HP_SPONDYLOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLYSIS CTSK FLNA AGA FLNB RUNX2 HP_SPINAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_RIGIDITY MYO9A COL13A1 KLHL41 BSCL2 DYSF ACTA1 VAMP1 AGRN COL6A1 NEB ACVR1 COL6A3 SNAP25 CHAT LMNA EMD SELENON FHL1 POMT1 COL6A2 DES CAPN3 TMEM43 CAV1 KBTBD13 MYH7 TPM3 SLC18A3 TPM2 ORAI1 POMT2 CFL2 INPP5K FKTN SYNE2 LMOD3 HSPG2 CAVIN1 MYPN FOS KY MGME1 PYROXD1 SLC5A7 TOR1AIP1 SYT2 AGPAT2 COL12A1 TTN TNPO3 SLC25A1 PPARG TRIP4 BAG3 SYNE1 HP_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLORDOSIS PPM1D TWIST1 CCDC8 GMPPB HACE1 SMARCAL1 KLHL41 NSDHL NPR2 LIMK1 ACTA1 MASP1 HNRNPA1 FRG1 FKRP MMP13 TRAPPC2 PLEKHG5 EIF2AK3 COMP FGFR3 ALG2 SLC26A2 ELN NEB CTSK SCN9A COL1A2 HERC1 SHOX COL2A1 SLC10A7 INPP5K SYNE2 LMOD3 BICD2 DYM HSPG2 POMGNT1 MYPN PIEZO2 COL11A2 TRPV4 SMCHD1 DDRGK1 LMNA SPEG SELENON EXOC6B DAG1 COL6A2 RSPRY1 PCYT1A RAB3GAP2 MFN2 B3GALT6 SYNE1 TFAP2A TONSL BSCL2 GALNS BCOR ZC4H2 GLB1 CLCF1 CAPN3 ACP5 SCN4A LMX1B RERE TPM2 DMD PLEC MAP3K20 MAPK1 TRAPPC11 LAMA2 BIN1 ARSB OBSL1 HNRNPH2 NAA10 BAZ1B SGCG FOS RYR1 HACD1 POMT2 ITGA7 AGPAT2 L1CAM COLQ MATN3 COLEC11 GTF2IRD1 MYH7 PPARG CAVIN1 ALG14 HNRNPA2B1 VPS33A DYSF RFC2 SGCA NOTCH3 RAB3GAP1 ADAMTS10 GTF2I EMD FHL1 DPAGT1 ACAN ALX3 DNMT3B TMEM43 EXTL3 POMT1 CUL7 CHST3 CLIP2 COL12A1 CRKL ECEL1 POMK RETREG1 FGFR2 FUCA1 COLEC10 FKTN TBX6 WNK1 SOX5 PCGF2 KY BCR VPS13B TPM3 DUX4 SETD5 SYT1 COL5A1 NECTIN1 POP1 MYL2 TOR1A GNPTG RMRP TRPS1 COL1A1 KIF1A DNM2 TBL2 FLNB FBN1 CAV1 VCP TTN CANT1 RET MED12 CFL2 PPP1R15B COL5A2 BGN DNA2 IHH XYLT1 FN1 IARS2 GFPT1 TGFB1 SON MTMR14 AMER1 HP_CERVICAL_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SUBLUXATION IDUA MMP2 FLNB COL2A1 GALNS GLB1 RMRP DDR2 HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS DLL3 IDUA BGN FLNA RAB33B COG4 GALNS RMRP DYM TRPV4 MESP2 FN1 TRAPPC2 FGD1 COL2A1 EIF2AK3 COMP GNPTAB GLB1 DKK1 FLNB LONP1 NFIX EXTL3 DDR2 HES7 AIFM1 LFNG GUSB ARSB HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS IDUA BGN RAB33B COG4 GALNS RMRP DYM TRPV4 FN1 TRAPPC2 FGD1 COL2A1 EIF2AK3 COMP GNPTAB GLB1 FLNB LONP1 NFIX EXTL3 DDR2 AIFM1 LFNG GUSB ARSB HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES TWIST1 FGFR3 SMARCAL1 CTBP1 GLI3 NPR2 GLB1 LIMK1 TCIRG1 HAAO SGSH INPPL1 TRAPPC2 PTEN COMP PTH1R MAP3K7 LTBP3 FGFR1 ELN FLNB MMP13 COL2A1 MESP2 CHRNG FGFRL1 MMP14 CHD7 HSPG2 CHST3 IFT43 PPIB FKBP10 COL11A2 ACAN PTCH1 RUNX2 SEC23A B9D1 HDAC6 GJA1 PCYT1A COL1A1 B3GALT6 RAI1 ROR2 SEMA3E CCN6 RAB33B HSPA9 PIEZO2 RMRP TCTN2 FLI1 MAN2B1 PTCH2 FANCB KMT2D SUFU SOX2 AGA SKI MIR140 HGSNAT ARL3 COL11A1 KIAA0586 COL9A2 TRPV4 COG1 CLCN7 INPP5E KLHL7 ARSB PEX7 IQSEC2 COG4 TCTN1 SLC35D1 SEC24D CCDC8 TENT5A GNPTAB TBX2 SALL4 OCRL BMP1 AHI1 ARL13B CEP104 GTF2IRD1 LETM1 COL10A1 RAD21 SH3PXD2B PYCR1 TMEM237 DLL3 SH2B1 ACP5 RFC2 NOTCH3 TONSL SLC39A13 SRP54 IDH1 LFNG NSD2 ARMC9 DVL1 EXTL3 DEAF1 LMNA CUL7 PDE4D MMP2 CLIP2 GORAB POR GPX4 FGFR2 FUCA1 VANGL1 PLEKHM1 SMAD4 LRP5 MAFB CEP120 ACVR1 SOX5 USP8 NANS ENPP1 AKT1 NELFA DVL3 CPLX1 DDR2 KIF22 ATP7A ATRX DYM IDUA CDH11 TMCO1 SIX6 SON SLC25A24 RNU4ATAC CFAP410 DDRGK1 AIP POLR3A ALPL NEK1 XYLT2 PPP1R15B UFSP2 PIBF1 MYH3 COL1A2 IHH XYLT1 IFITM5 FN1 TNFRSF11A CPLANE1 PRKAR1A TAPT1 PMM2 P4HB CCL2 ABCC9 RIPPLY2 RSPRY1 DHCR7 EIF2AK3 ZBTB20 HES7 SLC26A2 CSF1R RPS6KA3 GUSB PLOD2 SLC10A7 B3GLCT FZD2 PUF60 GNS CSPP1 MBTPS2 UBE3B EXOC6B LONP1 WASHC5 ALG12 FBN1 SFRP4 CANT1 VDR GALNS FUZ TBX6 P3H1 KIAA0556 NAGLU TBX15 IKBKG TRIP11 WNT1 NEU1 AIFM1 APC GNPAT OBSL1 CHN1 BAZ1B NOTCH2NLC ASXL1 SF3B4 MKS1 SMOC1 EBP PLOD3 SOST SBDS ADA DMP1 RPL13 FLNA LBR LOXL3 NOTCH2 JAG1 COL9A3 SC5D CEP41 GTF2I PAM16 LRP4 COL9A1 ERF KYNU MATN3 SPARC SLC29A3 VANGL2 KCNJ8 TMEM67 TBC1D24 POP1 ORC1 FLII CCDC22 WNT5A SERPINF1 IDH2 SERPINH1 WNT7A TBL2 DHX37 SGMS2 CDK10 DNAJC21 TBXT BGN CBS SUMF1 GLE1 ANKRD11 ZMPSTE24 TBXAS1 MPL KDM6A HYLS1 RPS19 ANTXR1 PAPSS2 HP_BUTTERFLY_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUTTERFLY_VERTEBRAE SOX5 SIX6 SOX2 SC5D COG1 ALG12 KDM6A HAAO TBX6 RIPPLY2 KMT2D HP_ABNORMALITY_OF_THE_CERVICAL_SPINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE SHOX GLE1 PIGY SMARCAL1 MYH3 NEK9 KIF7 PAFAH1B1 INPPL1 TRAPPC2 FBN2 KIFBP SOX9 TCF4 AMMECR1 COG7 GPC3 FLNB MESP2 MED13L ATP6V1B2 SMC1A COL2A1 CBL KCNH1 COL11A2 BGN NEB BPTF RAF1 TBX15 PIEZO2 FHL1 SHOC2 TRIM32 ROR2 FGFR1 HRAS SETBP1 GNAS MMP2 TFAP2A FGD1 CHST14 SRCAP CHRND VPS33A RAB33B HSPA9 RMRP COL6A1 ZC4H2 FLI1 ESCO2 MAN2B1 GPC4 FKRP GLB1 DVL1 FAM20C C2CD3 BRAF BBS4 MEGF8 MIR140 RAD21 UNC80 ARVCF SLC26A2 EXOSC9 ATRX TRIP11 TRPV4 COG1 ROBO3 GZF1 TBR1 DSE FANCI HBA1 DONSON BRF1 PTPN11 RAB23 SLC35D1 TAF1 CCDC8 B3GLCT GMPPB TBX2 SALL4 MEOX1 WNT5A TECPR2 UFD1 SLC2A1 PIGV NUP88 GPKOW DLL3 AP5Z1 PSMD12 NOTCH3 CHRNG BBS10 EP300 LFNG EXTL3 BBS9 CUL7 ERCC2 COMT GPX4 BBS2 FUCA1 JMJD1C MECP2 TPM2 FANCL HESX1 MAFB LZTFL1 NANS SOS2 HIRA TRMT10A STXBP1 DVL3 CREBBP OTUD6B IDS DCC DDR2 KIF22 DYM WDR35 IDUA BMPER CDH11 TMCO1 GNPTG MKS1 B3GAT3 TNNT3 NBAS STX16 MKKS GATA4 TALDO1 ACAN LHX4 DDRGK1 POLR3A LHX3 TBX1 XYLT2 MED12 CFL2 KMT2A ARL6 PIGN INTU HDAC4 TNNI2 XYLT1 SEC24C PGAP1 BMP4 NALCN SOS1 TAPT1 FGFR2 NBN FTO ALG8 PRMT7 RB1 SMAD3 HDAC8 PGAP2 POU1F1 TTC8 CCN6 ABCC9 RIPPLY2 LIFR RSPRY1 DHCR7 KLHL41 GPC6 PHGDH ACTA1 YWHAE MYO18B TUBB PPP1CB KRAS GDF6 PSAT1 COL6A2 HES7 TGFB3 NUP188 GUSB RNU4ATAC B3GALT6 NIPBL LMOD3 ERCC1 FZD2 BBS5 PUF60 HSPG2 RFT1 TBCK PROP1 GNS CANT1 INTS1 RREB1 GDF3 UBE2A COL12A1 CDK5 TCTN2 SPRED1 SMC3 ACTB ALG9 NXN GALNS SEMA5A TBX6 ANTXR2 LZTR1 PIGA NF1 AIFM1 ERCC5 AEBP1 POLE OBSL1 MAP2K1 CHN1 WAC UBA1 WDPCP EBP GP1BB ACTG1 BBS12 CEP290 NOTCH2 CHST3 NLRP1 KIAA0586 RIT1 ADAT3 IFT27 WNT7A ERCC6 LMX1B SDCCAG8 EMD PAM16 PPP1R15B MAP2K2 KCNN3 APC MUSK IGBP1 POGZ EXOC6B COG5 ECEL1 PALB2 PTCH1 BBS7 SF3B4 PIGO PIGL POMT2 GLI2 CTNND2 ANKRD11 KCNJ8 TRAPPC9 NKX3-2 CRLF1 FOXA2 TBL1XR1 BBS1 POP1 SCYL2 OFD1 WASHC5 SETD5 COL11A1 CHRNA1 CCDC22 CTDP1 COL6A3 MGAT2 MAPRE2 FGFR3 TGDS ERMARD C8orf37 NPHP1 DHX37 PIGW RDH11 EFNB1 BBIP1 OTX2 SKI SMAD4 IFT172 MAN1B1 CUL4B BUB1B POMT1 MPL PGAP3 WNT4 RPS19 ALDOA CD96 HBA2 LARGE1 HP_PROGRESSIVE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MUSCLE_WEAKNESS PEX5 CRYAB BSCL2 POLG COL6A2 TNNT1 PEX12 YARS2 PEX10 TRAPPC11 PEX14 LTBP4 DES MT-TN TWNK CAV1 PEX1 PEX13 NEB TPI1 TK2 TTN COL6A1 PEX6 PYGM MT-TE PNPLA2 MYOT PUS1 SIL1 MYH7 DMD COL6A3 COL12A1 PRPS1 MT-TL2 TBCK PEX26 COQ2 PCNA FOS RYR1 ABHD5 ACTA1 VAPB POLG2 PEX19 LDB3 PLEC MT-TL1 SPEG PEX2 AGPAT2 PEX3 PEX16 PPARG BIN1 CAVIN1 PEX11B ANO5 DYSF HP_GENERALIZED_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_MUSCLE_WEAKNESS MYO9A PFN1 TTN KCNJ1 CHRNA1 SDHAF1 VAMP1 AGRN DAO RANBP2 ACTA1 SNAP25 SDHA DCTN1 POLG COL6A2 TBK1 HADHB NEB MEN1 PON2 ATP13A2 PON1 TREM2 TK2 HADHA PNKD ORAI1 COL12A1 ABCB6 FGF23 DSE PPARGC1A FXYD2 NEFH HNRNPA1 SOD1 FIG4 ACY1 PRPH TPM3 RYR1 VCP PLA2G6 TARDBP FUS LMOD3 SLC5A7 SELENON CCND1 GLE1 COLQ SDHB SLC25A1 CHCHD10 MATR3 CHRND PON3 NEK1 EGF MYH2 MYL2 SLC12A3 CNNM2 CLCNKB OPTN COL13A1 COL6A1 MYL1 MYH7 COL6A3 FKRP CHMP2B FKTN ANG C9orf72 POMT1 CHAT POMGNT1 GLT8D1 VAPB CFAP410 UNC13A DNAJB6 ACADL CAPN3 SLC18A3 SLC12A1 PRRT2 TPM2 MORC2 CRPPA PLEC ANXA11 PIGN ACAD9 ERBB4 CAVIN1 UBQLN2 TAF15 HACD1 SQSTM1 POMT2 EPHA4 ATXN2 LDB3 ITGA7 SYT2 SLC25A4 MAP3K20 LAMB2 KLHL41 COA8 SDHD MTM1 CCNF AARS2 AIFM1 HP_LIMB_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS TRIM32 SGCB MYO9A GMPPB CRYAB KLHL41 TWNK MATR3 ACTA1 VAMP1 MTAP AGRN FKRP SNAP25 LMNA ALG2 DPAGT1 BVES SGCA RRM2B CHRNB1 MYH7 LMOD3 TPM2 ANO5 DNA2 CHRNE NEB DMPK FRG1 POMT2 AK9 SLC5A7 DAG1 TNPO3 GYG1 SLC25A1 LRP4 RYR1 DNAJB6 CHRND SCN4A RAPSN COL13A1 SMCHD1 COL6A1 CHAT MUSK POMT1 TTN SLC18A3 COL6A2 DYSF MORC2 CFL2 MT-TE PNPLA2 POLG CRPPA DOK7 POLG2 DGUOK PSAP GALC FLNC ABHD5 VCP GFPT1 BICD2 LDB3 PLEC SYT2 GNE HNRNPDL MYOT CHRNA1 SLC25A4 COL6A3 ALG14 DPM3 LARGE1 HP_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYALGIA TRIM32 PRDM5 LBR SPTB SCN4A FKRP FMR1 LPIN1 EPB42 NTN1 DMD PGK1 TRAPPC11 DNM2 MEFV IL12A-AS1 CTLA4 PDGFRA MLX HADHA CLCN1 RRM2B ADA2 CTNNB1 CAV3 MSTO1 HSPG2 DNAL4 ANO5 GLA DNA2 CCR1 MYF6 RYR1 POLG2 RREB1 KLRC4 MT-TE CASQ1 PHKA1 MT-TK NOD2 NLRP3 CPT2 BSCL2 ZNF469 MT-TW CCDC78 LMNA OTULIN RAD51 RNASEH1 HLA-B ACADL TNFRSF1A C4A TWNK UBAC2 ARVCF DYSF SCN9A CRPPA MYH7 PNPLA2 BIN1 POLG PTPN22 SLC25A4 DGUOK FOS FLNC HLA-DPB1 PPARG HLA-DPA1 AGPAT2 GP1BB TLR4 ANK1 CNBP UFD1 CAVIN1 SLC12A3 FAS MYOT IL12A LPIN2 MATR3 NLRC4 STIM1 RBCK1 MVK ORAI1 HADHB BVES DNASE1L3 CLCNKB TK2 IL10 IL12B COMT PYGM DSE VCP STAT4 JMJD1C IL23R ERAP1 DMPK AMPD1 HIRA COL5A1 DOLK TMEM126B AMPD3 PGAM2 TBX1 ACADM PRTN3 CAPN3 MT-TL1 STING1 MTMR14 DCC COL1A1 FKTN POMT1 APC HMBS SLC4A1 SPTA1 CAV1 ACADVL POLR3A ENO3 COL5A2 LEMD3 ACAD9 CPOX LDHA SEC24C TNXB DNM1L OPA1 NLRP12 FDX2 HP_AXIAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_MUSCLE_WEAKNESS LMOD3 RYR1 BICD2 TPM2 CRYAB KLHL41 ACTA1 MT-TL2 NEB KLHL40 GMPPB FKRP POMT2 MT-TL1 SELENON DES MT-TN POMT1 COLQ LAMB2 TTN MYH7 SPEG CFL2 LMNA BIN1 LARGE1 HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION TTC37 SKIV2L ERCC3 TARS1 MPLKIP DSG4 ASL TGM3 PADI3 CDH3 TP63 WRN SPINK5 HEPHL1 NECTIN1 ERCC2 PEX6 BCS1L HR RNF113A LMNA GTF2H5 GTF2E2 ST14 KRT25 GAN TCHH KRT85 NECTIN4 PEX1 HP_ABNORMAL_BONE_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BONE_STRUCTURE GATM SMARCAL1 CTBP1 SLC34A1 ELMO2 SDCCAG8 KCNJ1 TCIRG1 MTAP SGSH COMP RAB3GAP1 PTH1R CLCN5 SOX9 KISS1 TP53 OSTM1 STIL SOST BRIP1 NDUFAF1 GPR35 FGF23 SPRY4 STAT3 TACR3 SLC9A3R1 FGF17 LRP5 SH3BP2 GSC GNA11 MTRR BANF1 PPIB PEX1 GLA WDR35 FKBP10 NFIX NR5A1 CCR6 PTCH1 FAH EXT1 RUNX2 ATP7A SEC23A ANOS1 GJA1 TCF4 FAM111A RUNX1 ORC6 ALB SLC7A7 GBA CDK6 RNF113A SETBP1 SLC35A2 KCNH1 BMP15 BSCL2 GNAS RMRP GALNT3 SLX4 PCCA PEX10 MC4R WRN GLB1 GNRHR GCM2 WDR11 NRAS HGSNAT BUB3 PDE8B SLC26A2 ANTXR2 SLC39A8 PSMB8 FANCA TRIP11 CLCN7 DMP1 MST1 PEX12 PEX7 SLC2A2 GEMIN4 PHGDH FLRT3 TAF1 SEC24D XRCC2 KISS1R DLX3 TENT5A WNT3A OFD1 COL2A1 MMP1 PHC1 CRTAP OCRL ALPL DCAF17 ALX4 AGPAT2 TINF2 HSD17B4 MAGEL2 ANKH HSD3B7 NPHP1 PMM2 GTF2IRD1 LETM1 NUP107 FANCB LEMD3 SNORD115-1 HNRNPA2B1 CTC1 SH3PXD2B PIGY TBCE CEP57 LPIN2 FANCM IRF5 SNX10 ERCC6 GPC4 HBB ZMPSTE24 TONSL DCC ATP7B DLL4 COL1A1 GDF5 SNRPN PDE4D MMP2 CLIP2 SLC4A1 HESX1 HLA-DRB1 PRKACA GLIS3 PEX26 PLEKHM1 ERCC3 NCAPD3 POLR3H DCHS1 MAFB NEU1 ATP6V0A2 USP8 ENPP1 DKC1 TGFBR2 RETREG1 RNF125 CRIPT PTDSS1 CPLX1 DVL1 PRKAR1A HPGD SEC23B DNAJC21 TJP2 WDR34 DUSP6 MEN1 MATN3 KIF14 AKT1 VPS53 TERT NSD2 PEX2 PROKR2 NAGA CHD7 MAD2L2 UFSP2 ARSL IQCB1 TRPV3 APC IL12RB1 HDAC6 RIN2 DYNC2H1 FBN1 PRLR PEX13 TGFB1 PDLIM4 SLC12A1 TERC PHEX HECW2 PWRN1 XYLT2 LFNG AGA PTEN CYP17A1 PIGT RPL10 AGXT PYGL PSMC3IP COL1A2 LMNA CAVIN1 XYLT1 TNFRSF11A FAT4 NPR2 NSMF LRP4 TAPT1 IFT122 ANO5 RECQL4 SMAD3 PALB2 POU1F1 ASAH1 SDHD CCN6 ABCC9 PIK3CA RNU4ATAC PRDM5 MAP2K1 MGP NAB2 AIFM1 SLC34A3 EIF2AK3 NGLY1 PEX16 NPHP3 MCPH1 CDK5RAP2 EPHX1 GUSB KRAS PLOD2 HHAT SLCO2A1 PIGL B3GALT6 AMER1 LAMA3 AP2S1 PLS3 PLOD1 TBCK PROP1 NHP2 DHX37 UROS WNT1 HS6ST1 DDRGK1 AKR1D1 RSPRY1 PSAP PEX19 GALNS MBTPS2 SEMA5A IGF1 COG1 GJB2 P3H1 NAGLU CTSC SRY WDR60 EED MFSD2A SMPD1 HNF4A SLC25A24 FANCD2 TMEM165 GNPAT AEBP1 IKBKG CYP11A1 POLG LIFR POLE FLNA ASPM CEP63 POLG2 TRPV4 BAZ1B EXTL3 GK ASXL1 CDC73 THRB GATA4 EBP P4HB SBDS SRC TYROBP MAP11 GFI1 RAD51 NPHP4 TREM2 PEX11B SLC17A5 STAT1 WDR19 TET2 FLNB EXT2 EHHADH POF1B BRAF CHST3 IRX5 ZBTB20 SQSTM1 SPARC CBS PIGV HRAS TCOF1 ITGB4 IFT43 CEP164 RAD51C FSHR TRPS1 CDH23 BTNL2 TNFRSF11B CTNND2 MBTPS1 ERCC2 NKX3-2 CD96 ALG9 IL12A CASR CYP27B1 POR SNORD116-1 DDOST PDE11A MGAT2 PARN IDH2 ARL6IP6 ASXL2 SERPINH1 CTCF DHCR24 VCP CANT1 NR0B1 ABCC6 DMRT3 PEX6 COPB2 GALT CSPP1 PERP OTX2 GNRH1 NOTCH3 SLC25A19 IARS2 CYP2R1 CYP11B1 HSPG2 RPL11 MPL TNFSF15 SNRPB IHH CCN2 ANTXR1 FEZF1 B4GALT7 SUFU EFL1 BMS1 SMS SLC39A14 GLI3 PDGFRB LIMK1 MPLKIP FGFR1 MMP13 ESR1 INPPL1 FBN2 FANCL ELN CTSK DPM2 PWAR1 PCCB RRM2B WRAP53 CHRNG HAMP FGF8 CTNNB1 FGFRL1 FUT8 MMP14 HSD3B2 KLF1 ALDH18A1 SALL4 BAAT NSDHL CEP135 KNL1 ERCC8 SMARCD2 TNFSF11 HMGA2 LRP6 POLR1D AR CA2 ADCY10 MAN2B1 MALT1 FAM20C SKI MIR140 UNC80 KIAA0586 INVS GZF1 NDN SOX3 LAMB3 SDHC SLC35D1 ATL3 HBG1 CREB3L1 FOS CCDC141 CYB5A HFE GNPTAB ARMC5 BMP1 UBE2T ADAMTS2 PPARG DKK1 COL10A1 PYCR1 HGD EFEMP2 PEX14 PORCN SPIB RFC2 ERCC4 ADAMTS10 SRP54 CAV1 SLC39A13 IDH1 STN1 SOX10 GORAB GPX4 VAMP7 G6PC FERMT3 WNK1 STAT6 ACVR1 VDR CTNS TRMT10A BRCA2 LAMC2 NELFA CENPJ GGCX CCND1 POLR1C DDR2 KIF22 BRCA1 BUB1B DYM BMPER TARS1 SASS6 ELP1 B3GAT3 BMP2 STX16 FKBP14 SP7 LHX4 AIP POLR3A BNC1 PTCH2 MMEL1 BUB1 TRAF3IP1 USP9X INTU IFITM5 ANKLE2 FGFR2 MRPS22 SLC25A4 COL7A1 GPC3 TMEM38B RSPO2 FANCE CBL HNRNPA1 NOP10 IFT80 RFWD3 MAP3K1 CSF1R SCN9A ZFPM2 WWOX TBXAS1 SETD2 SLC10A7 SAMD9 GTF2H5 SLC29A3 SCARB2 FBLN5 NT5E PEX5 PROK2 SEMA3E IL17RD FANCF EXOC6B LONP1 NPAP1 TRIP13 FIG4 GTF2E2 CEP290 SFRP4 CYP19A1 FARSB FANCG ZNF469 GPAA1 TAF13 MLXIPL HOXA13 COL3A1 CYP27A1 FANCI HBG2 RB1 RTEL1 GJB6 BMPR1B TNPO3 HERC2 IER3IP1 ADAMTSL2 PLOD3 LBR NOTCH2 CHEK2 WNT3 TWNK PEX3 KLLN ELANE SC5D GTF2I IFT52 WDR62 TRPV6 TAC3 DHCR7 HJV PYCR2 METTL5 NPM1 SLC37A4 TMEM67 SPIDR POU2AF1 COX4I2 KIF1A GLI2 KCNJ8 MKRN3 FOXA2 IFIH1 WT1 ORC1 COL9A3 CEP152 AVP SRSF2 PHF21A CTDP1 CALCR FANCC NLRP3 WNT7A TBL2 SIK3 POLD1 SDHB PLEC PEPD VAC14 SGMS2 IL1RN USF3 BGN SEMA3A MITF ESR2 PSAT1 GLE1 USB1 CIT GATA1 AGPS HP_ABNORMAL_ENCHONDRAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION RSPO2 PEX14 SLC35D1 WNT3 CTBP1 RNU4ATAC PEX3 FLNB PEX11B MGP ESR1 INPPL1 GPC4 EIF2AK3 IFT80 PEX16 COMP TONSL KIF22 CLCN5 SRP54 SOX9 BMPER NSD2 GDF5 CTSK GUSB DHCR7 PDE4D CHST3 SETD2 SLC10A7 GPX4 B3GALT6 FGFRL1 PEX26 PEX12 GSC CYP2R1 PIGV HSPG2 RUNX2 PEX1 WDR35 VDR TRIP11 PEX5 NEU1 NSDHL PTCH1 COL2A1 PTH1R DDRGK1 PEX6 GGCX LONP1 CPLX1 DDR2 MBTPS1 NKX3-2 ORC6 WDR34 CYP27B1 CD96 FIG4 ORC1 MATN3 PEX19 DYM TRPV4 COL9A3 CANT1 KCNH1 CYP19A1 LBR PEX2 RMRP FLNA PEX10 UFSP2 ARSL HOXA13 WDR60 DYNC2H1 MIR140 NFIX PEX13 ALPL PRKAR1A SLC26A2 PTCH2 KIAA0586 VAC14 LFNG DNAJC21 PEX7 CSPP1 BGN EXTL3 XYLT1 BMPR1B THRB FGFR2 EBP SNRPB IHH LETM1 SBDS SLC34A3 GPC3 AGPS SUFU HP_JUNCTIONAL_SPLIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUNCTIONAL_SPLIT ITGB4 LAMA3 LAMB3 LAMC2 PLEC ITGA6 HP_DECREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_RENIN_LEVEL CYP11B1 AVPR2 CYP17A1 CACNA1D SCNN1G KCNJ5 NR3C2 SCNN1B HSD11B2 HP_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMINOACIDURIA GLYCTK GALT PRODH GATM MICOS13 PREPL SCO1 GRHPR ALDH4A1 SUCLA2 ETFB SLC36A2 COX6B1 DHTKD1 MTR TK2 MOCS2 LMBRD1 NGLY1 XPA CLCN5 ERCC3 COX14 OCRL TACO1 ATP7B EHHADH CASR DGUOK ERCC5 TNFRSF11A CTNS SLC6A19 GSS ALDH5A1 POLG LMNA PCCB SLC34A1 PET100 NAGA BCS1L TRNT1 COA3 TIMM50 SLC7A9 SLC6A20 RRM2B TMEM70 ASL SUCLG1 IVD PEX5 PLOD2 ATPAF2 XPC FH FAH AUH ARG1 OAT DNAJC19 TNFRSF11B SLC3A1 COX10 OTC FTCD OPA3 GCLC SLC7A7 AGK CYP27B1 HAL ABCD4 HTRA2 HIBCH GCSH SLC35A1 CPS1 SLC6A18 ETFDH HMGCL DDB2 PCCA COA8 TAZ ALDOB GUCY2D MTHFR COX8A FARS2 KYNU SLC19A2 PRDX1 SERAC1 HNF4A MARS1 MMACHC NEU1 ERCC2 OPLAH ATP5F1D HCFC1 ATP5F1E SLC2A2 GLDC COX20 SLC1A1 GEMIN4 GPHN UMPS CBS PPM1B ETFA SPINK5 CYP2R1 MOCS1 ZMPSTE24 DMGDH ERCC4 MT-TN MTRR ATAD3A GALE AMT MMADHC CTH MCCC2 PEX1 CLPB ACADM HGD CAMKMT HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION APOA5 LDLRAP1 LPL LCAT UBR1 HP_ABNORMALITY_OF_THE_FEMORAL_NECK_OR_HEAD_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FEMORAL_NECK_OR_HEAD_REGION CCN6 ABCC9 RSPRY1 SMARCAL1 CCDC47 RNU4ATAC GLI3 GLB1 TCIRG1 B4GALT7 SMARCC2 TRAPPC2 ARID1B EIF2AK3 NGLY1 RBM8A SMARCD1 TGFB3 SHOX COL2A1 MMP13 SLC10A7 B3GALT6 COG4 CHD4 FZD2 ENPP1 HSPG2 RUNX2 CANT1 COL11A2 ACAN FLNA SOX11 COMP DDRGK1 IFT140 ORC6 BMPR1B SLC35A2 RAB33B HSPA9 GALNS MAN2B1 NFIX TRIP11 SMARCB1 EED MEGF8 MIR140 COL11A1 AIFM1 KIAA0586 SLC39A13 MMP9 TRPV4 COG1 PRG4 MAPK1 COL10A1 FN1 EXT1 SLC2A10 RAB23 EXTL3 SMARCA4 TRAF3IP1 CRTAP LRP5 ATP7A ADAMTSL2 PLOD3 DYM ADAMTS2 COG8 SBDS DMP1 RPL13 DPF2 CTC1 FGFR3 LBR INPP5K SIL1 PCNT FKBP10 TBX4 TONSL KIF22 LMX1B SRP54 EP300 COL9A1 DVL1 PDE4D LMNA CHST3 IFNGR1 CRKL EXOC6B COL1A2 PEX5 TMEM67 FUCA1 EXT2 ACVR1 ERCC6 ATP6V0A2 NANS BCR STXBP1 TRPS1 DVL3 CREBBP KCNJ8 ARCN1 NKX3-2 IFIH1 PCYT1A POP1 ATRX ORC1 MATN3 EZH2 POC1A XYLT1 IDUA SOX4 GNPTG WNT5A UFSP2 SERPINF1 MGAT2 SLC26A2 ARID1A CFAP410 FLNB PIK3C2A SMARCE1 RET DNAJC21 CSPP1 BGN ARID2 IHH COL1A1 ZMPSTE24 CDC6 TGFB1 GTF2E2 RPS6KA3 HP_ABNORMALITY_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FEMORAL_HEAD CCN6 IDUA RSPRY1 SMARCAL1 RNU4ATAC RAB33B GNPTG HSPA9 INPP5K TRPS1 SIL1 PCNT WNT5A UFSP2 TBX4 TONSL SLC26A2 KIF22 SLC39A13 SRP54 EP300 COL9A1 DVL1 RET CHST3 AIFM1 IFNGR1 KIAA0586 COL2A1 COL1A2 B3GALT6 COL10A1 EXT1 DNAJC21 CSPP1 FZD2 SLC2A10 EXTL3 COL11A2 COL1A1 ACAN COMP TRPV4 TRAPPC2 DVL3 TRAF3IP1 IFT140 ATP7A CREBBP ADAMTSL2 PLOD3 DYM CDC6 IHH ADAMTS2 SBDS POP1 MATN3 HP_FLAT_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_CAPITAL_FEMORAL_EPIPHYSIS UFSP2 COL9A1 GNPTG COL2A1 KIF22 SLC39A13 TRPS1 ACAN TBX4 TONSL SLC26A2 HP_STEPPAGE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEPPAGE_GAIT TTN PDK3 PMP22 KARS1 HSPB1 MPZ NEFL GNB4 KIF1B HARS1 TIA1 HINT1 SLC30A10 KLHL9 FHL1 MARS1 LRSAM1 SBF2 TDP1 GAN SQSTM1 GDAP1 EGR2 MYH7 POLG MFN2 CLIC2 IGHMBP2 COX6A1 COA7 PRX INF2 ATP1A1 SLC25A46 C12orf65 HSPB3 DCAF8 PMP2 ADSS1 SCO2 LMNA GNE RAB7A DHH HP_AXONAL_DEGENERATION_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION_REGENERATION MFN2 GDAP1 MPZ RAB7A KIF1B LRSAM1 SLC12A6 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 DNMT1 SH3TC2 ELP1 MPZ PMP22 GDAP1 SACS KIF1B FGD4 NTRK1 POLG FLRT1 NEFL PLEKHG5 SBF2 GAN MME EGR2 PRX KLC2 NGF APTX SCN9A TYMP MFN2 RAI1 DHH WNK1 KIF1A HSPB8 TFG SPG11 GJB1 RRM2B C12orf65 RETREG1 JPH1 LMNA DNM2 MPV17 RAB7A HK1 TRIM2 HP_HYPERTROPHIC_NERVE_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_NERVE_CHANGES MPZ PMP22 GDAP1 LITAF EGR2 PRX HP_ONION_BULB_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONION_BULB_FORMATION MFN2 COX6A1 FIG4 MPZ SH3TC2 SLC12A6 PRX INF2 C12orf65 PMP22 GDAP1 SACS GNB4 LITAF KIF1B GJB1 DCAF8 ARHGEF10 FGD4 PMP2 NEFL SBF1 EGR2 FAM126A LMNA DNM2 NDRG1 SBF2 PRPS1 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 PLEKHG5 SH3TC2 ELP1 HSPB8 SACS MME GDAP1 RRM2B PRX HK1 POLG APTX TYMP HP_EASY_FATIGABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EASY_FATIGABILITY MYO9A GMPPB TWNK SDHAF1 VAMP1 AGRN NTN1 SNAP25 SURF1 SDHA ALG2 POLG DPAGT1 RAPSN PRKAR1A CHRNB1 TDP2 RRM2B TYMP CASQ1 CHRNE CHRND TPM2 STIM1 DNAL4 MYPN CALR DOK7 MPL MGME1 CHRNA1 GFPT1 FKBP14 TPM3 AK9 SLC5A7 TMEM126B COLQ SDHB SLC25A1 LRP4 AGK MEN1 RYR1 SCN4A COL13A1 JAK2 DCC DNM2 CHAT MUSK RAD51 POMT1 TGFB1 SLC18A3 SYT2 MAP3K20 PNPLA2 CDH23 AIP GTPBP3 POLG2 PYROXD1 LAMB2 SLC25A4 SDHD ALG14 BAG3 MTMR14 TET2 HP_SENSORY_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_AXONAL_NEUROPATHY NEFH TWNK POLG CTSD ATL3 DGUOK HNRNPA1 MFN2 CAPN1 GJC2 PRICKLE1 AIFM1 HINT1 KLC2 FXN PLD3 VCP PLEKHG4 TK2 PIEZO2 MORC2 GAN FGF14 ATP13A2 HNRNPA2B1 CCT5 HP_GOWERS_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOWERS_SIGN TRIM32 MSTO1 GMPPB SGCB GFPT1 CFL2 POMK SGCA POMGNT2 TK2 SGCG ALG2 SELENON ACTA1 DPAGT1 POMT1 RAPSN MYPN NEFL PNPLA8 DAG1 TTN DMD PLEC INPP5K PNPLA2 BIN1 SYNE1 DPM3 CHRNE BICD2 TPM2 DNA2 ORAI1 FKTN POMGNT1 DOK7 TRPV4 RYR1 ASAH1 PYROXD1 CHRNA1 LAMA2 MUSK CHKB TRAPPC11 TPM3 SPEG GATM VMA21 ALG14 SGCD DNAJB6 HP_THENAR_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THENAR_MUSCLE_ATROPHY BSCL2 GARS1 PDK3 SLC39A13 SPG11 PLOD3 REEP1 HP_MUSCLE_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_SPASM GMPPB PFN1 SCN4A PINK1 DNAJC13 TWNK NEFH KCNJ1 SNCA CPT2 STIM1 DAO FKRP GBA ATXN3 DMD LRRK2 PGK1 ALG2 BSCL2 CACNA1S ORAI1 DCTN1 SMN2 DPAGT1 TBK1 CHCHD10 HINT1 PON2 PON1 TREM2 CLCNKB HADHA PYGM SYNJ1 RRM2B CASR ABCB6 WASHC5 UCHL1 PRPH AR VCP PPARGC1A MYH7 CASQ1 CHRNE OPA3 HNRNPA1 MPZ SOD1 FIG4 ATP1A1 DNA2 DOK7 MFN2 COL4A1 PMP22 LAMA2 GFPT1 VAPB AMPD1 TARDBP FUS PODXL GIGYF2 GLE1 GARS1 SLC16A1 MORC2 AMPD3 PGAM2 MATR3 ACADM PON3 NEK1 PRKN SLC12A3 ATXN2 GNAS OPTN CAV3 MT-TW TRPM7 STX16 CHMP2B PFKM FKTN ANG C9orf72 POMT1 GLT8D1 CFAP410 UNC13A ACADVL RYR1 DLD ALDH18A1 SMN1 VPS13C SLC12A1 CRPPA MAP3K20 ANXA11 TRAPPC11 GLA POLG PYGL GNA11 LAMP2 PHGDH KCNJ18 PARK7 TRPM6 POLG2 DGUOK HTRA2 ERBB4 LDHA UBQLN2 KCNA1 KY TAF15 TFG VPS35 ISCU SQSTM1 MT-ATP6 PSAT1 EPHA4 EIF4G1 FLVCR1 HADHB PIGG RTN2 SLC25A4 FBXO38 ALG14 CCNF DNAJC6 HSPB1 GABRA3 FDX2 REEP1 HP_SYRINGOMYELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYRINGOMYELIA LEMD3 FBLN1 NOTCH2 SH2B1 RAI1 ABCA1 HMGA2 CTNNB1 RUNX2 TBX6 DDR2 NOTCH3 NFIA ACY1 SETD2 NRAS KDM1A DKK1 CCNQ HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION PLEC MYO9A GMPPB PFN1 KLHL41 ACTA1 CHRNA1 VAMP1 AGRN STIM1 NEB DAO SNAP25 NGLY1 ALG2 ORAI1 DCTN1 DPAGT1 TBK1 PON2 KBTBD13 TPM3 PON1 TREM2 CHRNB1 PPARGC1A CACNA1S LMOD3 KRT14 CHRNE NEFH HNRNPA1 TPM2 SOD1 GNA11 FIG4 MYPN DOK7 PRPH GFPT1 DMPK VCP DKK1 TARDBP FUS POMT2 AK9 SLC5A7 SELENON ALG14 GLE1 COLQ CASQ1 SLC25A1 CHCHD10 MATR3 ACADM LRP4 PON3 NEK1 CASR CHRND SCN4A MYL2 RAPSN RRM2B OPTN COL13A1 PHKG2 KCNK9 KCNE3 CHMP2B ANG C9orf72 FKRP CHAT MUSK GLT8D1 VAPB CFAP410 UNC13A HINT1 RNASEH1 DES ACADL SLC18A3 KRT5 CFL2 RYR1 ANXA11 PHKA2 ACAD9 ERBB4 UBQLN2 TAF15 FLNC TOE1 HACD1 SQSTM1 EPHA4 ATXN2 LDB3 ITGA7 POMT1 SYT2 MAP3K20 LAMB2 COA8 CCNF LARGE1 HP_PARESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARESTHESIA NAGLU IL12A KCNJ1 SCN4A FMR1 JAK2 PRRT2 PMS2 BMPR1A POLG EPCAM PMP22 APP MEFV IL12A-AS1 GABRG2 MEN1 ALAD RELA SRPX2 CLCNKB IL10 SLC2A1 CASR GRIN2A THPO TYMP STAT4 SH2B3 OPA3 IL23R GNA14 GNA11 ERAP1 HLA-DRB1 SCYL1 CCR1 MFN2 CBLIF MLH3 RRM2B MSH2 GALC KLRC4 DKK1 KCNQ3 SCN2A CCND1 MSH6 PMS1 GPR101 TP53 NAGA HLA-DQB1 MPL HBB CALR MLH1 SLC12A3 PDCD1 HLA-B KRAS GNAS CTDP1 GBE1 SPTLC2 SEPTIN9 STX16 CUBN AIP C11orf95 TGFBR2 HINT1 HMBS MTHFR ATL1 TNFRSF1A C4A UBAC2 TK2 SLC12A1 SCN8A RPS20 KIF5A CACNA1A GLA LIFR LYST PTPN22 SEMA4A KCNQ2 SERPING1 TET2 TLR4 SLC19A2 PIK3CA NLRP3 FAN1 FAS HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS CHRNE CHRND AK9 SCN4A RAPSN DOK7 COL13A1 CHRNA1 LRP4 AGRN CHAT MUSK CHRNB1 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 GMPPB CHRND CHRNE SCN4A RAPSN DOK7 GFPT1 COL13A1 RYR1 CHAT MUSK ALG2 DPAGT1 AK9 SPEG COLQ ALG14 LAMB2 TTN CHRNA1 BIN1 LRP4 AGRN CHRNB1 HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES SPTLC2 ATL1 DHH HK1 NAGA MFN2 CCT5 RNF170 HINT1 HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY CSPP1 KIAA0586 CFAP410 SBDS TRPV4 SRP54 DNAJC21 HP_ATLANTOAXIAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_ABNORMALITY CHST14 BSCL2 AGPAT2 CAV1 NFIX POLR3A DYM DDR2 FOS GATA1 PPARG CAVIN1 FKBP14 COMP GNPTAB DSE HP_ATLANTOAXIAL_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_DISLOCATION FOS PPARG CHST14 CAVIN1 BSCL2 AGPAT2 CAV1 NFIX COMP GNPTAB DSE HP_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CANAL_STENOSIS CSPP1 IARS2 SKI FGFR3 NOG TBCE PHEX PHF6 PDE4D DYM RERE PRKAR1A RIPPLY2 ADAMTS10 KCNAB2 IDUA ENPP1 AIP AKT1 FBN1 EXTL3 GPR101 GABRD KIAA0586 FGF23 DMP1 PRDM16 HP_CORONAL_CLEFT_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CLEFT_VERTEBRAE FLNB LONP1 SLC26A2 HSPA9 HSPG2 COL11A2 CHST3 SLC10A7 COL2A1 TRIP11 PEX7 HP_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACK_PAIN DLL3 CAPN3 BAP1 BRCA2 TBX6 TERT SMO NAB2 PALB2 SEC63 HTRA1 EMD KRAS FLI1 FHL1 SMAD4 VANGL1 TMEM43 ATP7B HELLPAR ALDH18A1 LMX1B TCIRG1 SYNE2 VCP PLEKHM1 PDGFB PIK3CA STAT6 CFH MESP2 PRKCSH CLCN7 SMARCE1 CD46 HLA-B BRCA1 TP53 LRP5 TRAF7 LMNA SMARCB1 SUFU PALLD CDKN2A AKT1 SPAST NF2 CFI HGD SYNE1 HP_LOW_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_BACK_PAIN STAT6 SPAST NAB2 HTRA1 TBX6 ALDH18A1 HP_VERTEBRAL_SEGMENTATION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_SEGMENTATION_DEFECT DLL3 RIPPLY2 JAG1 SH2B1 CTBP1 GLI3 LIMK1 MYH3 RFC2 MYO18B CHRNG FKRP GPC4 NTN1 AFF4 RBM8A GTF2I GDF6 BMPER MAP3K7 GPC3 HES7 LFNG ELN KYNU VANGL1 FLNB NSD2 DVL1 FGFR2 COL2A1 TPM2 CLIP2 MESP2 POR B3GLCT SALL4 FGFRL1 FZD2 CHD7 PUF60 MAFB DNAL4 TBX6 ACVR1 SOX5 FLNA PTCH1 KANSL1 MBTPS2 DKK1 DVL3 GDF3 SEMA3E HRAS CPLX1 ROR2 ANKRD11 GRIP1 WASHC5 TMCO1 TBC1D24 CHRM3 ATRX ORC1 HGD NXN CHRNA1 HOXD13 CCDC22 FGD1 CHRND FUZ COG1 TNNT3 SIX6 DCC WNT5A SON TAF1 IKBKG PTCH2 FRAS1 RAD51 WNT7A TBL2 FREM2 FANCB KMT2D NRAS SUFU SOX2 MNX1 MEOX1 IL1RN FANCI CDK10 KRAS GDF5 CHN1 BAZ1B TNNI2 NOTCH3 TBX2 NALCN SMAD4 KDM6A EBP NOG GTF2IRD1 LETM1 RAD21 FGFR1 HP_THORACOLUMBAR_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSCOLIOSIS CDH11 MGAT2 SLC26A2 POP1 GNPTAB LHX3 HP_CNS_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_HYPOMYELINATION PIGY VPS11 RARS1 TBCD EIF2B3 GLUL ATP6V1A TUBB4A EIF2B4 DDOST NKX6-2 GDAP1 NARS2 SLC1A4 PEX13 GJC2 AHCY POLR3B POLR3A SPTAN1 PIGW CYB5A EIF2B1 CNTNAP1 PARS2 PYCR2 PURA ZNF335 ADSL SPATA5 POLR1C STXBP1 PIGO INTU EIF2B5 CYB5R3 PIGL TRAPPC11 EIF2B2 BCAP31 SOX10 PHGDH QARS1 MTHFS WDR26 SLC25A12 PGAP3 DARS1 AARS1 RMND1 PGAP2 GAN SLC33A1 SNIP1 PIGV FAM126A PRKDC HP_DECREASED_SIZE_OF_NERVE_TERMINALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SIZE_OF_NERVE_TERMINALS CHRNE CHRND AK9 SCN4A RAPSN DOK7 COLQ LAMB2 CHRNA1 COL13A1 LRP4 AGRN GFPT1 MUSK CHRNB1 HP_EMG_CHRONIC_DENERVATION_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_CHRONIC_DENERVATION_SIGNS PLA2G6 ALS2 MPV17 TBCE SCO2 SLC12A6 HSPB1 VCP HNRNPA1 TBCK ARSA SPG7 HSPB8 FBXO38 PSAP MFN2 DCAF8 HNRNPA2B1 HINT1 ASAH1 HP_EMG_NEUROPATHIC_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_NEUROPATHIC_CHANGES ALS2 SLC12A6 HSPB1 ANO5 HNRNPA1 PSAP TPP1 ATP7A PLEKHG5 HSPB8 SMN1 HINT1 NEB VCP SPG7 VAPB VRK1 ARSA MYH7 GDAP1 IGHMBP2 PMP22 DYNC1H1 ACTA1 MPV17 NEFH TBCE TBCK MFN2 HSPB3 DCAF8 PLA2G6 GJB1 IBA57 SCO2 LDB3 FBXO38 NOP56 HNRNPA2B1 ASAH1 SYNE1 HP_AXONAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_LOSS MOCS1 ASCC1 TYROBP GJB1 UBTF RFC1 FIG4 TRIP4 INF2 NDRG1 UBQLN2 SURF1 MOCS2 NGLY1 BAG3 ADPRS HP_COLD_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLD_INDUCED_MUSCLE_CRAMPS GARS1 PMP22 BSCL2 MPZ REEP1 HP_AXONAL_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_REGENERATION YARS1 NEFL GDAP1 GNB4 JPH1 HK1 HP_INCREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_IRON KIF23 STEAP3 HAMP TTC37 TFR2 PKLR BMP2 HFE BCS1L HJV HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY TCIRG1 CASP10 FAS FASLG PRKCD ELANE ITCH RASGRP1 SRP54 STAT4 IRAK1 GFI1 SPP1 HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION PEX5 ABCD1 PEX19 CPT2 PEX1 HP_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_ABNORMALITY TRIM32 GMPPB NALCN OAT VAMP1 HNRNPA1 COL6A2 NEB TTN FRG1 PSEN1 SCN4A PSAP MYH7 FKTN ANKRD1 PLEKHG5 SMN1 TIA1 ALG2 LGI4 RAF1 KLHL9 SMN2 DNM2 MYBPC3 TAZ MT-TP TNNI3 FOXH1 SGCA MT-TQ YARS2 TCAP CDON RRM2B CHRNB1 SYNE2 MYOT TXNRD2 DMXL2 CAV3 GNA11 DOLK HSPG2 TBCK ARSA ANO5 DMD PUS1 MT-TK MYF6 MFN2 MT-ATP8 TPM3 GFPT1 HSPB3 KLHL41 DCAF8 SMCHD1 CHRNE AK9 LMNA ATXN3 SLC5A7 SPEG GATAD1 SELENON COL12A1 ALG14 COLQ ADCY6 CASQ1 VCL TNPO3 PRDM16 MT-TL1 FHL2 ZIC2 SYNE1 PTCH1 RAPSN ACTN2 TNNC1 POLG SLC12A6 HSPB1 COL13A1 COL6A1 SEPTIN9 POMGNT1 SIX3 MUSK GAS1 COQ8A CYP27A1 ACADL TWNK MYH14 CLCN1 DES TPM2 LRP12 GNE LAMA4 DISP1 VRK1 CRPPA ATP13A2 TGIF1 POMT1 BIN1 LAMA2 TMPO TNNT2 IGHMBP2 PMP22 ACTA1 DYNC1H1 FKRP DOK7 LAMP2 POLG2 ANO10 NOTCH2NLC SGCG RYR1 ABHD5 CHAT HACD1 FGF8 PLEC ITGA7 SDHA SCO2 SLC25A4 PPCS PLN CHRNA1 ABCA1 TPM1 TDGF1 TRIP4 SIGMAR1 HNRNPA2B1 CPT1C MSTO1 ALS2 PDK3 TANGO2 MYO9A MT-RNR1 CRYAB MATR3 MYPN AGRN STIM1 HAND2 BAG3 TPP1 TK2 SNAP25 EMD CACNA1S ORAI1 DPAGT1 MT-TN DNMT3B B3GALNT2 TMEM43 KBTBD13 NEBL PSEN2 UNC80 TAF1A VAPB RBM20 SHH SQSTM1 VCP SCN5A COL6A3 MPV17 NEFH SMAD4 TBCE MT-TL2 MTM1 LARGE1 VPS13A MAFB DMPK CAP2 ACTC1 DUX4 PLA2G6 IBA57 DYSF CEP126 GLI2 LDB3 MT-TF GYG1 MT-TH SLC25A1 NOP56 LRP4 CASR CHRND MYL2 ELP1 SGCD CPLANE1 CSRP3 MT-TS2 MTMR14 TNNT1 ATP7A KCNE3 HSPB8 HINT1 FHL1 NODAL FUS ABCC9 SLC18A3 SPG7 GDAP1 KCNA1 SPG11 KCNJ18 ACAD9 MT-ND5 APOA1 SUFU DSG2 GJB1 CACNA1D SAR1B POMT2 DLL1 SYT2 MAP3K20 LAMB2 MYH6 CNTNAP1 ASAH1 FBXO38 GBE1 NEXN FGFR1 GABRA3 HP_EMG_MYOPATHIC_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_MYOPATHIC_ABNORMALITIES TRIM32 TTN MSTO1 TANGO2 MYO9A NALCN CRYAB TWNK ANO5 VAMP1 HNRNPA1 AGRN STIM1 NEB ACTA1 TK2 SNAP25 TIA1 EMD ORAI1 KLHL9 COL6A2 DNM2 TMEM43 KBTBD13 FOXH1 SGCA TPM3 SCN4A UNC80 CDON SHH RRM2B SQSTM1 CHRNB1 SYNE2 VCP MYOT MYH7 CAV3 MYPN CHRNE MYF6 KLHL41 AK9 LMNA SLC5A7 DYSF SELENON COL12A1 CASQ1 GLI2 LDB3 TNPO3 GYG1 SLC25A1 LRP4 RYR1 ZIC2 SYNE1 CHRND PTCH1 MYL2 RAPSN POLG COL13A1 COL6A1 MTMR14 TNNT1 COL6A3 FKRP FKTN SIX3 POMT1 CHAT MUSK GAS1 FHL1 NODAL LARGE1 ACADL DES MYH14 SLC18A3 TPM2 LRP12 GNE DISP1 CRPPA TGIF1 BIN1 DOK7 LAMP2 ACAD9 POLG2 SGCG ABHD5 SUFU HACD1 FGF8 PLEC ITGA7 SAR1B DLL1 SYT2 SLC25A4 MAP3K20 CHRNA1 TDGF1 TRIP4 BAG3 FGFR1 HNRNPA2B1 HP_POLYCLONAL_ELEVATION_OF_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCLONAL_ELEVATION_OF_IGM MYD88 KLHDC8B GPR35 MST1 TCF4 HP_ABNORMAL_VERTEBRAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY TWIST1 KMT2D FGFR3 SMARCAL1 CTBP1 GLI3 TBXT NPR2 GLB1 LIMK1 MYH3 PHF6 TCIRG1 HAAO FKRP SGSH INPPL1 TRAPPC2 NTN1 AFF4 FSHR PTEN COMP PTH1R SOX9 MAP3K7 LTBP3 GPC3 FGFR1 ELN FLNB CTSK FGFR2 MMP13 COL2A1 MESP2 CHRNG SALL4 FGFRL1 MMP14 LRP5 CHD7 HSPG2 CHST3 IFT43 PPIB DNAL4 WDR35 FKBP10 COL11A2 NR5A1 ACAN NSDHL PTCH1 KANSL1 RUNX2 SEC23A B9D1 HRAS ROR2 HDAC6 GJA1 PCYT1A COL1A1 B3GALT6 RAI1 HIBCH MMP2 SEMA3E CCN6 FGD1 CHST14 CHRND RAB33B BMP15 HSPA9 INPP5E PIEZO2 GBA RMRP TCTN2 FLI1 MAN2B1 GPC4 PTCH2 FRAS1 FANCB NRAS SUFU SOX2 AGA SKI MIR140 HGSNAT DHODH MNX1 ARL3 COL11A1 KIAA0586 COL9A2 TRPV4 COG1 CLCN7 CTSA KDM1A KLHL7 DSE FANCI ARSB PEX7 KRAS SOX3 IQSEC2 COG4 TCTN1 FOXF1 SLC35D1 SEC24D CREB3L1 CCDC8 TENT5A WNT3A GNPTAB TBX2 CRTAP OCRL BMP1 TNFRSF11A MEOX1 AHI1 ARL13B CEP104 GTF2IRD1 DKK1 LETM1 NUP107 XYLT2 COL10A1 RAD21 SH3PXD2B PYCR1 TMEM237 DLL3 SH2B1 ACP5 RFC2 NOTCH3 TONSL SLC39A13 SRP54 IDH1 LFNG VANGL1 NSD2 ARMC9 DVL1 EXTL3 DEAF1 LMNA CUL7 PDE4D CLIP2 GORAB POR GPX4 FUCA1 PLEKHM1 SMAD4 HESX1 POLR3H MAFB CEP120 ACVR1 SOX5 FLNA USP8 NANS ENPP1 CEP41 AKT1 NELFA DVL3 CCND1 CPLX1 DDR2 KIF22 WDR34 ATP7A CHRM3 ATRX DYM IDUA BMPER CDH11 HOXD13 TMCO1 TNNT3 SIX6 DCC SON SLC25A24 GLE1 RNU4ATAC CFAP410 DYNC2H1 LHX4 DDRGK1 AIP POLR3A ALPL BNC1 NEK1 PPP1R15B SLC26A2 UFSP2 PIBF1 NOG PSMC3IP COL1A2 TNNI2 IHH XYLT1 IFITM5 FN1 GDF3 NALCN CPLANE1 PRKAR1A TAPT1 MRPS22 PMM2 POU1F1 P4HB CCL2 ABCC9 RSPO2 RIPPLY2 RSPRY1 DHCR7 MYO18B EIF2AK3 RECQL4 IFT80 RBM8A GDF6 ZBTB20 HES7 CSF1R RPS6KA3 GUSB PLOD2 TPM2 SLC10A7 TBX5 ZIC3 B3GLCT PROP1 FZD2 PLS3 PUF60 SCARB2 GNS TRIP11 COLEC11 CSPP1 UROS WNT1 MBTPS2 UBE3B EXOC6B LONP1 WASHC5 ALG12 FBN1 HGD SFRP4 CANT1 NXN VDR GALNS FUZ TBX6 P3H1 KIAA0556 TAF1 NAGLU TBX15 IKBKG RAD51 WDR60 FREM2 SALL1 NEK9 NEU1 AIFM1 APC GNPAT GDF5 OBSL1 CHN1 BAZ1B NOTCH2NLC ASXL1 SF3B4 MKS1 SMOC1 EBP PLOD3 SOST SBDS ADA DMP1 RPL13 LBR LOXL3 NOTCH2 JAG1 WNT3 DACT1 COL9A3 SC5D GTF2I PAM16 LRP4 COL9A1 ERF KYNU MATN3 SPARC SPIDR SLC29A3 GLI2 VANGL2 ANKRD11 KCNJ8 GRIP1 TMEM67 NKX3-2 FOXA2 TBC1D24 POP1 ORC1 FLII CHRNA1 PAX3 CCDC22 WNT5A SERPINF1 IDH2 SERPINH1 WNT7A TBL2 DHX37 SGMS2 IL1RN CDK10 DNAJC21 BGN CBS SUMF1 OTX2 IARS2 ZMPSTE24 TBXAS1 MPL KDM6A HYLS1 RPS19 ANTXR1 PAPSS2 HP_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARALYSIS PFN1 RARS1 SDHD RET NEFH MATR3 TCIRG1 DAO FAH FGFR1 DLST CPOX SDHB TRPV4 SDHAF2 B4GALNT1 VHL SCN4A HFE EMD CACNA1S DCTN1 NF1 TBK1 SLC2A1 POLA1 GM2A TMEM43 CD59 PON2 ALAD PON1 PMP22 TREM2 POLG SLC25A19 CLCNKB PDCD10 TPI1 ABCB6 PRX PRPH SYNE2 PPARGC1A MYCN HNRNPA1 SOD1 FIG4 MFN2 ERLIN2 KCNJ18 VCP DKK1 TARDBP FUS MEGF10 LMNA ATXN3 TGM6 SDHC FH TNFSF11 LONP1 GLE1 CHCHD10 TMEM127 PON3 HSPB1 NEK1 HK1 TRIM2 SETBP1 SYNE1 MDH2 DNMT3A SLC12A3 PPOX GAA CA2 TRAPPC12 OPTN LMNB1 KRAS ELN TRPM7 KCNE3 CHMP2B MLXIPL ANG HSPB8 C9orf72 GLT8D1 VAPB CFAP410 UNC13A HMBS FHL1 ALOXE3 CYP27A1 SDHA KCNJ2 MAX KIF1B SLC52A3 MORC2 ANXA11 SLC4A1 NOTCH3 IGHMBP2 EPAS1 COL4A1 SLC25A11 ERBB4 UBQLN2 TAF15 ALDH18A1 SLC5A7 CDH23 SQSTM1 EPHA4 ATXN2 CNTNAP1 GDAP1 BCHE NONO CLCN7 ZFYVE26 BAG3 CCNF GABRA3 ALOX12B HP_SENSORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_IMPAIRMENT DNAJC3 LIFR SHANK3 DYNC1H1 KARS1 SH3TC2 PNKP TREX1 SCN11A AARS1 PMP22 GNB4 TRPV4 ATXN3 CHST14 GBA2 REEP2 DDHD1 DHTKD1 GDAP1 NTRK1 KLHL9 NOTCH3 NEFL SPTBN2 POLR3A BEAN1 TPP1 MAG C19orf12 LRSAM1 HINT1 REEP1 SACS PWAR1 SLCO2A1 PDYN TDP1 WASHC5 EGR2 NAGA ABCA1 NGF RAI1 BSCL2 PHYH CAV1 OPA3 MAPT MPZ MATR3 MSTO1 HARS1 IBA57 MFN2 CBLIF SPG11 AIFM1 GALC DCAF8 AEBP1 ALDH18A1 SBF1 KIF1A TWNK SERPINI1 PIK3R5 NPAP1 POLG XRCC1 DNM2 MORC2 SPAST MPV17 ABCD1 RAB7A MME GAN CACNA1G ELOVL5 FIG4 HK1 OPA1 HSPB1 GBE1 FBN1 DAB1 H19 KIF5A PEX6 FXN MARS1 VPS37A FMR1 VCP PLEKHG4 CYP7B1 NDN RTN2 SCN9A PRKCG ATN1 DSE CCT5 ATXN1 APTX IQSEC2 COX6A1 WDR48 COA7 ATL3 GCH1 GARS1 CAPN1 GJB1 ABHD12 MTMR2 ATL1 TBP HERC2 ATXN8OS SCO2 TFG JPH1 MAGEL2 LMNA UBTF PRPS1 SNORD115-1 ZFYVE26 CPT1C RNF170 NAGLU PDK3 DARS2 MED25 TGM1 C12orf65 B4GALNT1 SCN10A FGD4 SAR1B FLI1 GJC2 APP PLD3 PLEKHG5 CHCHD10 ZFHX2 MEN1 DEAF1 SPG7 HSPD1 SNRPN ATXN2 PIEZO2 PRX SLC33A1 KLC2 SLC25A15 ATP13A2 NEFH GRIA3 RFC1 IGF2 INF2 MCM3AP SLC52A2 WNK1 SLC25A46 YARS1 SCYL1 CDKL5 DKK1 RETREG1 SPART MKRN3 VAMP1 TYMP SETX NDRG1 ARSI CLTCL1 FLII SAMD9L ELP1 PEX10 MT-ATP6 SNORD116-1 SPTLC2 ATXN7 ATP7A LITAF CUBN KIF1B CHAMP1 FLRT1 KCNC3 GPI TK2 SBF2 PEX7 SOX10 PWRN1 MT-TE FGF14 IFRD1 STUB1 KCNQ1OT1 IGHMBP2 GMPPA NIPA1 KCND3 HSPB8 NGLY1 IARS2 FBLN5 HPGD FLVCR1 DNAJB2 PGM3 BAG3 HP_PERIPHERAL_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_NEUROPATHY ALAD DARS2 GLE1 TRIP4 TWNK CTSD HNRNPA1 PDX1 AARS1 ABCC8 POLG TTR PRICKLE1 HARS1 KLC2 KLHL9 PNPLA6 DNM2 PLD3 MT-TF KIF1A KCNJ11 HINT1 SLC25A19 PIEZO2 CYP2U1 KRAS BRAF GCK COASY VPS13D TDP1 RRM2B NAGA ABCA1 XK STAT3 SERPING1 TYMP TUBB3 ZFYVE26 MPZ COG8 MPV17 NEFH TBCE RETREG1 MCM3AP IBA57 MYF6 MFN2 MT-ND1 MT-ND4 ATAD3A AAAS DMPK DCAF8 ATXN3 MT-CO1 SPG11 WARS1 MT-TW MT-TQ MT-ND5 C19orf12 RYR1 TRIM2 MT-ND6 HK1 SLC12A6 HSPB1 MT-ATP6 CTDP1 B2M GBE1 MTMR14 KCNK9 ELOVL5 GJC2 AIFM1 AFG3L2 MT-CO3 FLRT1 ELOVL4 FXN MARS1 INS ATL1 VCP PLEKHG4 SPG7 CCT5 TK2 TBCD SETX MORC2 GAN DDHD1 MME ATP13A2 KIF5A MT-TE FGF14 GBA2 BIN1 IFRD1 MT-CO2 ASCC1 WDR48 COA7 ALDH18A1 POLG2 ATL3 DYNC1H1 DGUOK AMPD2 MT-TS2 GMPPA HSPB8 TRPV4 WFS1 MICU1 C12orf65 CAPN1 KCNJ10 FBLN5 SYNE1 PEX10 SLC25A4 MT-TL1 SH3TC2 MT-TH TRAPPC11 HNRNPA2B1 HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION PMP22 PRX MT-TV MPZ MT-ND4 LITAF MT-TL1 MT-ATP6 NEFL MT-ND1 MT-ND3 MT-TK DNM2 NDRG1 MT-TW SBF2 PRPS1 MT-ND5 MT-ND6 MT-ND2 EGR2 HP_EMG_AXONAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_AXONAL_ABNORMALITY PDK3 CYP27A1 ATP13A2 ANO5 SGCG GNE HP_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_MUSCLE_WEAKNESS CHRND SCN4A RAPSN BAP1 GALC GARS1 SH3TC2 DYSF TCAP ANO5 C12orf65 TERT MTMR14 ADAR SMO MPZ FGD4 CHCHD10 MUSK EMD BSCL2 MT-ATP6 FHL1 CHRNE POMT1 DNM2 POU3F4 EGR2 TMEM43 SPG7 PIEZO2 CYP7B1 MORC2 BIN1 CHRNB1 SYNE2 GMPPB MYH7 CRPPA NEFH DOK7 PDGFB COL13A1 SGCG PIK3CA YARS1 KY MYF6 MFN2 ACTA1 SMARCE1 LDB3 TRAF7 AK9 LMNA SMARCB1 SPART ADSS1 NUP62 SUFU LIPE CHRNA1 AKT1 FBXO38 GYG1 LRP4 AGRN NF2 RYR1 ZFYVE26 SYNE1 REEP1 HP_BABINSKI_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BABINSKI_SIGN SNX14 DNAJC3 SLC1A4 ATP13A2 CLCN4 CHCHD10 PSAP ERLIN1 AIFM1 ATXN3 GBA2 CHMP2B DDHD1 PRICKLE1 FTSJ1 POLR3A NUBPL TPP1 GCH1 MAG C19orf12 UPF3B NEFL PARS2 SACS HADHA PDYN VPS13D WASHC5 SLC2A1 RAB39B HCFC1 FUS BSCL2 CAV1 ARHGEF6 B4GALNT1 ARSA REEP2 IBA57 MFN2 SPG11 CXorf56 CTDP1 ZFR AP4E1 ALDH18A1 IREB2 AP4M1 KIF1A TGM6 NUP62 PIK3R5 PRNP ARX SPAST SDHB SLC33A1 TAF2 COQ2 GAN IL1RAPL1 NT5C2 ACOX1 ADPRS CACNA1G ATP6AP2 KDM5C MDH2 AP4S1 UCHL1 SELENOI REEP1 TSEN2 ADAR NFASC MAN2B1 GJC2 HTRA1 CAPN1 UBAP1 RUSC2 KIF5A FXN FTL CNTNAP1 UGDH CNKSR2 RPS6KA3 MID2 CYP7B1 PNPLA6 MORC2 SDHAF1 SQSTM1 AFG3L2 RTN2 CCT5 SLC39A14 GAD1 FA2H FBXO7 MTPAP DDHD2 COL4A1 RFC1 SETX NDUFS4 KY GJB1 TSPAN7 ABHD12 ATL1 KIF1C MECP2 JAM2 PCYT2 GLRX5 FAM126A FARS2 TFG SDHD DDC ZFYVE26 CPT1C AP4B1 RNF170 C9orf72 DPM3 TYROBP ALS2 PTCHD1 ACSL4 TARDBP DARS2 TANGO2 GPT2 PRSS12 TTC19 C12orf65 SDHA DEGS1 POLR3B USP27X TBK1 RNASEH1 PGAP1 SPG7 HSPD1 BRAT1 CYP2U1 PSEN1 ZFYVE27 DNMT1 ADGRG1 NEFH GRIA3 CACNA1A PLAA TRMT5 SLC25A46 NOP56 ALG13 AAAS ERLIN2 AGTR2 IQSEC2 DKK1 TSEN15 PAK3 SPART CTSF ATXN10 VAMP1 DARS1 OPA3 ZNF41 SLC19A3 SPG21 SAMD9L FRMPD4 TH GALC KCNA4 ZNF711 EEF2 MT-ATP6 CHP1 LMNB1 PRPS1 ASPA ATXN7 DLG3 SYP NDUFS1 PLP1 LARGE1 OPA1 GDI1 DMD SLC9A7 PYCR2 SNCA VCP MT-TE SIGMAR1 PIGT NIPA1 KCNA1 TIMM8A WWOX GRID2 EIF2S3 ATXN1 USP9X HADHB PLA2G6 MCOLN1 CWF19L1 MED12 ABCB7 ZNF81 DSTYK SLC16A2 HP_ANTINUCLEAR_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY ANKRD55 MMP2 IL2RA IRF5 SPIB POU2AF1 CD247 STAT4 SLC7A7 FCGR2B LACC1 CTLA4 PTPN22 TNFAIP3 FAS SPP1 TNPO3 PTPN2 IL12RB1 IL2RB FASLG TREX1 CASP10 DNASE1 TNFSF15 PRKCD NLRP1 FCGR2A RASGRP1 MMEL1 IRAK1 IL12A HP_INCREASED_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGM_LEVEL VPS33A IRF5 SPIB XIAP POU2AF1 UNG MYD88 DNMT3B FAS TNPO3 IL12RB1 CD40LG CASP10 PIK3CD SH2D1A KLHDC8B TNFSF15 FASLG TCF4 CD40 IFNGR1 MMEL1 GPR35 MST1 IL12A HP_DISPROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_STATURE DLL3 MYSM1 SLC35D1 SMARCAL1 ACP5 DHCR7 NPR2 CHST3 GPC6 PCNT WDR35 MMP13 INPPL1 TRAPPC2 FGFR3 WNT7A IFT80 COL1A1 COMP TONSL WDR19 BMPER IFT52 FGFR1 KYNU FLNB XRCC4 SHOX MATN3 EXTL3 GDF5 COL2A1 MESP2 SLC10A7 GPX4 MTOR RNU4ATAC SLC26A2 DYNC2LI1 B3GLCT IFT122 HSPG2 BMPR1B GSC DYM PPIB TRIP11 COL1A2 CANT1 SMC1A IFT43 PUF60 GLI1 DDRGK1 EVC ROR2 SLC39A8 EBP HDAC6 DDR2 ARCN1 NKX3-2 WDR34 RSPRY1 PCYT1A TRPV4 ALG12 KMT2A POC1A XYLT1 NXN LBR CEP120 RAB33B GALNS RMRP MBTPS2 B3GAT3 FZD2 TBX6 ASXL1 COG1 P3H1 COL11A1 TBX15 GLB1 WDR60 DVL1 SIK3 CFAP410 ACAN DYNC2H1 DHCR24 ALPL PRKAR1A KIAA0586 XYLT2 GNPAT ARSB PEX7 BRF1 CSPP1 BGN MAB21L2 EVC2 CREB3L1 PTH1R SOX9 CRTAP WNT5A NSMCE2 IHH DVL3 AGPS HP_MILD_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_SHORT_STATURE COL9A3 CANT1 COMP DOCK3 LBR CHST11 PDE4D COL1A1 IDS EVC2 MYO18B PRKAR1A COL9A2 FN1 FGD1 COL2A1 RTTN EVC COL10A1 CAMK2G HP_PROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPORTIONATE_SHORT_STATURE DLL3 TBCE GH1 FLNB STAT5B INPP5K SDHAF1 MYO18B SIL1 RTTN ERCC6 ADAMTS10 KAT6B SELENOI HOXD13 SDHA FGFR3 SLC39A13 DHCR24 SALL4 LTBP3 PNPLA6 FGFR1 SCNN1A FBN1 PPP1R15B DVL1 SHOX NIN ERCC4 CTNNB1 HHAT DLX5 COX7B RNU4ATAC GORAB ATR SCNN1G COL1A2 B3GALT6 RMRP GMNN FZD2 GLB1 SMAD4 CHST11 TRPV4 ORC6 HCCS HADH RUNX2 TBX6 DNMT3A CANT1 BRAF GHR ACAN COMP SMARCA2 DVL3 CRIPT NPR2 LBR ORC4 IDS CTSA SDHB PCYT1A FAM111A XYLT1 ALDH18A1 CAMK2G COL9A3 TRMT10A HSPA9 PIEZO2 TKT MBTPS2 PRKAR1A KIF11 WNT5A ANTXR2 FGD1 MAP3K7 PDE4D COL2A1 DDRGK1 TCTN3 ORC1 CDC45 PIK3R1 SLC26A2 CDC6 CKAP2L TRIP11 SGMS2 PTH1R EVC COL10A1 PEX7 POLE BRF1 INPPL1 PTDSS1 DOCK3 NSMCE2 EVC2 COL1A1 MESP2 FN1 CDT1 NDUFB11 LARP7 ATP8B1 COL9A2 SON ADAMTS2 SDHD SCNN1B RPL13 PYCR1 AMER1 HP_SEVERE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_STATURE DLL3 GH1 FLNB STAT5B INPP5K SDHAF1 SIL1 RTTN ERCC6 KAT6B SDHA FGFR3 DHCR24 SALL4 LTBP3 PNPLA6 FGFR1 FBN1 DVL1 SHOX NIN ERCC4 HHAT DLX5 COX7B RNU4ATAC GORAB COL1A2 B3GALT6 RMRP GMNN FZD2 GLB1 SMAD4 TRPV4 ORC6 HCCS TBX6 CANT1 GHR COMP SMARCA2 DVL3 CRIPT ORC4 IDS CTSA SDHB PCYT1A FAM111A XYLT1 ALDH18A1 HSPA9 PIEZO2 MBTPS2 KIF11 WNT5A ANTXR2 MAP3K7 COL2A1 DDRGK1 TCTN3 ORC1 CDC45 PIK3R1 SLC26A2 CDC6 CKAP2L TRIP11 SGMS2 PTH1R PEX7 POLE BRF1 INPPL1 PTDSS1 NSMCE2 COL1A1 MESP2 CDT1 NDUFB11 LARP7 ATP8B1 ADAMTS2 DNMT3A SDHD RPL13 PYCR1 AMER1 HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE SUZ12 GPC4 GPC3 MTM1 PIGA HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE BRF1 DLL3 BGN SMARCAL1 RAB33B GALNS CHST3 DYM TRPV4 TBX6 TRIP11 MESP2 COL2A1 GLB1 PUF60 TRAPPC2 BMPER FLNB NKX3-2 RSPRY1 XYLT2 ARSB HP_ELEVATED_CALCITONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CALCITONIN MDH2 NF1 RET SDHA SDHC FH SLC25A11 PRKAR1A MAX DLST SDHB SDHAF2 GNAS KIF1B TMEM127 SDHD VHL PDE4D HP_GLUTARIC_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUTARIC_ACIDEMIA DNAJC19 GCDH ETFDH ETFA ETFB HP_3_METHYLGLUTACONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_3_METHYLGLUTACONIC_ACIDURIA TIMM50 MICOS13 DNAJC19 TMEM70 SERAC1 ATAD3A OPA3 POLG HMGCL CLPB ATPAF2 AGK AUH ATP5F1D ATP5F1E TAZ HTRA2 HP_HYPOURICEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOURICEMIA MOCS1 PNP MOCOS SLC2A9 MOCS2 GPHN HNF4A SLC22A12 SLC2A2 HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION IDUA VPS33A RMRP SUMF1 HYAL1 HGSNAT PIK3C2A GALNS GUSB IDS GNS NAGLU SGSH GNPTAB GLB1 ARSB FUCA1 HP_INCREASED_SERUM_PYRUVATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_PYRUVATE MT-TL1 MECP2 NDUFAF5 NDUFAF1 LIPT2 TIMMDC1 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 AIFM1 MT-TP PNPLA8 MT-ND3 NDUFB3 NDUFA6 NDUFS6 BCS1L NDUFB9 FOXRED1 LDHA MT-ND1 NDUFS2 NDUFV1 NDUFAF4 SLC25A26 PDHX NDUFS3 UQCRC2 NDUFV2 NDUFS4 TWNK MT-TK MT-TF POLG NDUFA1 PC ACAT2 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 MT-TI MPC1 NDUFS1 NUBPL HP_EXERCISE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INTOLERANCE RRM2B COL13A1 SCO1 TWNK NEB PGM1 RSPH4A COX6B1 YARS2 DMD COX14 TACO1 CHCHD10 RNASEH1 MT-TF BVES KBTBD13 SLC25A32 TOP3A TPM3 TK2 HADHA COL12A1 PYGM PET100 COQ8A GMPPB GYS1 COA3 TRMT5 DNA2 MYPN MT-ND1 MT-ND4 MGME1 KLHL41 POLG2 MT-CO1 TMEM126B COX10 MT-TW C1QBP PHKA1 MT-TQ MT-ND5 PGAM2 AGK SDHA PGK1 MT-ND6 RSPH9 SDHD FARSB POLG MT-CYB COA8 PFKM TAZ HINT1 MT-CO3 BCS1L COX8A TPM2 SDHAF1 MT-TE ATP5F1D ENO3 PUS1 MT-CO2 ACTA1 COX20 LAMP2 SLC25A4 FLAD1 MT-TS2 LDHA CAVIN1 SLC18A3 NDUFS4 ISCU MT-TK MT-TN HADHB ACAD9 PNPLA2 MT-TL1 MT-TH HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS TRIM32 CHRND SCN4A RAPSN DOK7 TWNK MATR3 POLG2 COL13A1 ANO5 PSAP GALC FKRP CHRNE ABHD5 VCP DMPK MUSK BICD2 FRG1 AK9 TTN GNE HNRNPDL MYOT DYSF CHRNA1 SLC25A4 TNPO3 GYG1 RRM2B LRP4 AGRN MT-TE PNPLA2 CHRNB1 RYR1 DNAJB6 MYH7 POLG HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA POLG TWNK ISCU SLC25A4 PNPT1 TYMP HP_ABNORMALITY_OF_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CONNECTIVE_TISSUE KRT14 VPS11 ELMO2 GLRA1 KCNJ1 INSR IL17F FKRP KCNAB2 EPCAM ADCY6 UPF3B CASP10 KCNJ11 ERGIC1 MYLK SPRY4 SLC13A5 STAT3 TACR3 CHMP1A FGF17 RDH12 HCCS DMD WDR35 COL11A2 BGN CCR6 TTC7A GFPT1 NEB NUP133 LAMC2 FGFR1 USH1C NT5C2 FHL2 FGFR3 ROR2 SMCHD1 XRCC4 AMHR2 ESS2 BSCL2 SLC7A14 PIEZO2 GNAS BCOR LMNB2 ESCO2 SLX4 GLB1 SUFU GNRHR SELENON CHRNG KMT2D WDR11 PAX8 TREX1 HGSNAT NFIX KRT5 SLC26A2 ANTXR2 FOXC2 TRIP11 H1-4 TBR1 CFI TNNT2 IGHMBP2 PEX7 BRF1 RFC1 PHGDH WDR45B ENAM ORAI1 MYH3 SEC24D ROGDI ITCH ABCC8 WNT4 MYO9A MMP1 COL5A2 SALL4 SMOC2 LTBP4 UFD1 COL6A3 LEMD3 MEGF8 TGM1 SH2B1 PIP5K1C LPIN2 IRF5 SGCA PRDM12 FLT4 FKBP10 SLC9A6 PPP2R5D DNMT3A FGFR2 ATP7B EP300 AIFM1 LFNG ALX3 VANGL1 ALG13 EXTL3 SIN3A TAF1A CHRNB1 MMP2 AP1S2 FKTN KLC2 ACTG2 PIGP SLC5A5 DACT1 DOK7 ZFP57 C19orf12 SMAD4 ERCC3 TSEN54 DSPP DCHS1 C8orf37 PEX5 ATP6V0A2 ERLIN2 DUOX2 CAP2 ADAR BCR MRPS34 RBM28 GJC2 IFIH1 FBN1 CERKL DOLK MSH6 CREBBP OTUD6B MN1 APC DNAJC21 SLC25A1 DUSP6 ACADM IGLL1 ATRX TPM3 MYH2 EZH2 DNAJB6 NALCN TNFRSF11B AKT1 VPS53 TMCO1 NSD2 RAB18 KLK4 FREM1 PEX2 MAD2L2 ZMPSTE24 MED12 ERCC4 PPP2R1A SPART HINT1 PRPF4 COL7A1 DYNC2H1 KCNA1 AR SMARCE1 TTC8 DGCR2 SLC18A3 KIAA1109 CAV1 PHEX NAA10 TGFBR2 PBX1 RYR1 CDKN1C USP7 HUWE1 PTEN ERMARD PIGN KCNQ1OT1 RPL10 ABL1 TRAIP TUBB LMNA TCF4 TNFRSF11A CLDN1 ACTA1 ERCC5 TAPT1 FLVCR1 GDF1 ARHGEF18 RP1 TPM2 PALB2 KISS1R ASAH1 SDHD CCN6 PLEC ABCC9 GMPPB ERLIN1 PRDM5 MYO18B RTTN STXBP1 PMS2 GPC6 SMARCD1 COL6A2 HES7 TGFB3 NUP188 GUCA1B NAT8L GUSB PDE6G GDF5 PLOD2 ZNF335 AMER1 MYOT PRDM16 FZD2 AP2S1 PLOD1 GMNN ANO5 ITGB4 CANT1 UROS RREB1 PDE6B TSC2 LBR COG6 SCN2A RFT1 TNPO3 GTF2H5 VMA21 FAT4 EOGT VAMP1 MEN1 GLI3 TRIM2 SPATA7 TRMT10A CACNA1A POMK NXN TNNI2 LMOD1 GALNS MYL1 FBLN5 TMTC3 HELLS MAN2B1 CTSC PPT1 ADGRG6 WDR60 SMARCB1 MYO7A PPP2R3C COL12A1 POR CNTNAP1 SLC25A24 FAS TMEM165 MBTPS2 NEU1 FCSK PRG4 GNPAT AEBP1 LRP2 LIFR FLNA SEMA4A COL1A2 BCL11B PIK3CA CCBE1 GJB1 CDC73 SHH SDHA ATP7A F8 ZDHHC9 TBX4 PCDH15 GP1BB REV3L NEDD4L COLEC11 SLC12A3 ERCC1 GFI1 RAD51 SLC16A2 KIAA0586 WT1 LAMA3 PSMB9 EYS COL3A1 ADAT3 IDUA GBA ERCC6 WDR19 ALG3 BMPR1A TGFBI MFAP5 HRAS PIK3R2 HOXD13 PSEN2 CLCNKB BRAT1 LOX CRKL CACNA1E GRHL2 SCN5A CDK13 COLEC10 GJB2 CBS TCOF1 AKT2 KY CENPJ RLIM ADAMTS3 RAD51C ANKH CDH23 VANGL2 CDC42 TBX1 TBL1XR1 CD96 USH2A SH3BP2 NECTIN4 MLH1 DPH1 OFD1 CYP27B1 RP2 SETD5 COL11A1 HIKESHI MYL2 CCDC22 IFT172 KIF11 DDOST WNT5A FAM161A PITX1 RPE65 PPP2CA SGCG KDM5C FLRT1 PIK3CD DHCR24 SLC35A3 MERTK RNASEH2A HLA-DRB1 TGFBR1 GNRH1 FUZ ZSWIM6 IARS2 KIF7 MAT2A DLX3 CUL4B NDUFB11 ANKLE2 COL1A1 HSPG2 TRHR EXOSC8 CCN2 ANTXR1 TBX3 RPS6KA3 B4GALT7 KLHL41 CLIC2 OSGEP SNX14 SMS PDGFRB LIMK1 MYBPC1 PSEN1 RPS28 PAFAH1B1 CD79A PRPF6 MAPRE2 KLHL9 SLC6A9 ELN DPM2 ATR GBE1 SYNE2 ADA2 TSC1 FUT8 BICD2 IFT122 ALDH18A1 CHST3 ORC6 WDR4 RUNX2 ZNF408 DNM2 CHRNA1 NSDHL COL17A1 ERCC8 AP4E1 TBX15 SLC5A7 FHL1 ALG14 LIPE POLR1D NLRP3 SPECC1L SYNE1 SRCAP TBCD COL13A1 MYMK ZC4H2 MYSM1 FLNB TOP3A UFC1 FRAS1 PLAGL1 HAVCR2 SKI AGGF1 RPGRIP1L NOD2 COL6A1 C1R COL2A1 CRPPA MAPK1 GCK MASP1 LAMA2 TMPO MYH8 CNGB1 DST FIBP FOS IFT140 HFE VEGFC IGF2 PPARG BMP1 TOR1AIP1 ZBTB42 ADGRV1 ADAMTS2 NUP88 ITGB6 DARS2 MT-RNR1 DMXL2 SLC6A5 HAND2 KIZ TWIST2 SMAD3 ZNHIT3 RAB3GAP2 TMEM43 ITGA6 SCN4A MTOR C1S FUCA1 SKIV2L ARX STIM1 SLC25A46 ENPP1 VDR ABCA4 TRPV3 FGF3 CNTN1 BRCA2 ZBTB24 CEP55 NELFA SYT1 NECTIN1 SLC39A14 TRRAP ZFPM2 DDR2 PROM1 PIK3R1 BRCA1 PCSK1 SLC24A4 DPM1 ZNF469 IMPDH1 SMARCAD1 TARS1 FLVCR2 ALMS1 PRCD SON STX16 FKBP14 COL5A1 AMTN GATA6 ATP6V1E1 CA4 PIK3C2A NTRK1 RNASEH2C STRA6 IL17RA PIEZO1 EFNB1 CDKL5 TTN EFEMP2 PSMB4 PCARE ABCC6 LCK HDAC4 LAMB3 DSG2 FGF8 PYCR2 AHR SATB2 MTM1 TRIP4 KLHL7 KAT6B IFT80 LSS SPRTN ALG11 TAZ MT-TP TCAP COX7B PYCR1 IGHM MYH11 GNE SLC29A3 TUBB3 LMOD3 TXNRD2 TOPORS SCAPER NPPA AUTS2 SCARF2 PROK2 ALDH3A2 ECE1 FANCF PEX6 TGFB2 MESP2 CC2D2A VCL SPRED1 TP63 FANCG PPP3CA NIPBL GATA2 YY1 ASXL1 PTRH2 SLC2A10 COQ7 LETM1 DHODH INS FANCI TNFRSF1A TRAF7 GABBR2 PIGA TPRKB SLC39A13 MORC2 NKX2-5 MAP3K20 BIN1 CARMIL2 TRPV4 GAD1 PTDSS1 FOXE3 HACD1 TRIM8 POMT2 NOTCH1 BHLHA9 ADAMTSL2 FGF10 TRAF3IP2 RIC1 FAN1 NDUFAF4 DPF2 SAMHD1 CENPE VPS33A NOTCH2 WDR72 AIMP1 PROP1 SMOC1 KLLN BAG3 ELANE PLXND1 INPP5E EMD LRP4 OCRL IDH3A TSHB TAC3 PPP1R15B PAX3 PDE4D ATAD1 FBN2 RASGRP1 RHO POGZ SLC25A19 RP9 PTF1A AMH IBA57 MYPN RLBP1 NOTCH3 ACER3 PQBP1 ACTC1 GRIA4 FLCN THRA VIPAS39 RARB KCNJ8 ORC4 GRIP1 CRLF1 WDR73 CD79B MPDU1 XYLT1 PDX1 PACS1 TP53RK KRAS IYD SGCD CTDP1 KLHL40 PRPH2 WNT7A TGDS CIB2 ARF1 CLMP TULP1 SNRNP200 IFT88 FERMT1 ESPN MT-TE USF3 TNNT3 MT-ND5 CDT1 PSAT1 PRPF31 CLEC7A ODAPH MAP1B EED GATA1 PDE6A USP8 HBA2 SOX18 PLIN1 NEK9 BLNK MYH7 POMT1 ARID1B REEP6 KIAA1549 LMBR1 GPC3 KISS1 TNNI3 BRIP1 SLC1A2 MED25 TRAK1 TTC37 FXYD2 GJA1 CHD7 GSC BANF1 PPIB MLH3 LGI4 MSH2 NCAPG2 DGCR8 MEGF10 TNNT1 SDHB ALB PI4KA MT-TL1 RNF113A SETBP1 SLC35A2 TFAP2A SEMA3E PIGQ CHST14 ACTN2 CHRND CEP120 UCHL1 KCNH1 GALNT3 CIDEC CRYAB NUP107 AGBL5 WRN DVL1 GCM2 AGA SEPSECS RAD21 CAPN3 DES BEST1 EXOSC9 PSMB8 LAMA4 FANCA VRK1 AMELX DGCR6 DSE ARSB SLC2A2 CHUK RAB23 XRCC2 TENT5A FAM20A NTNG1 ABHD12 HYMAI SUZ12 ALPL ERCC2 AGPAT2 USH1G PMM2 ARL6 GTF2IRD1 TPM1 FANCB LIAS CDHR1 AP4B1 GPKOW PIGY CNGA1 FANCM DHDDS AGRN POU1F1 LHX4 GPC4 RNF13 GPHN DIS3L2 NEK2 NEBL NCF1 MAK RBM20 PHF6 CLIP2 BBS2 COMT SIL1 PRKACA GLIS3 PLAA MAFB HIRA NCSTN PMS1 RAC1 GNAO1 TMEM107 MT-TF SEC23B WDR34 RPGR MKS1 TRPS1 KCNK9 FGD1 PLK4 GATA4 SH3PXD2B GLRB RIN2 TUB TGFB1 ELOVL4 SLC12A1 CNNM4 CLDN19 RPS20 KMT2A RPS26 DNA2 ARID2 SLC35C1 CAVIN1 KCNQ1 RELT IGF1R ALX1 NSMF KDM5B ALG8 ERBB3 CDKN2B POLR3A HDAC8 HSPD1 THOC6 P4HB CCL2 CCDC8 RNU4ATAC DHCR7 MSX1 GLUL IL17RC CEP152 SLC1A4 ANKRD1 NF1 NGLY1 MYBPC3 COASY B3GALT6 B3GLCT SALL1 CDKN1B IDH3B ZEB1 MSTO1 MFN2 HESX1 ARFGEF2 GATAD1 SLC39A8 NACC1 LHX3 POMC TNNC1 FIG4 TBCE NKAP ACTA2 SLC12A6 SEMA5A TCTN3 COG1 P3H1 AMBN IKBKG PRKG1 H19 MECP2 KCNJ2 ANOS1 FANCD2 LARGE1 SDHAF1 ZIC3 MC4R DVL3 PLCG2 GCH1 BAZ1B UBA1 GDAP1 PPCS CDKN1A DUOXA2 TYROBP TREM2 KRT1 PCNT SRD5A3 RGR TPO IFNG YWHAE L1CAM HYLS1 MUSK KIF15 SLC35A1 GNPTAB ATRIP SPEG IRX5 ZBTB20 PIGL ECEL1 IFT81 AIRE CDCA7 FAM83H IFT43 FH PUF60 BTNL2 RSPO2 SPG11 CTNND2 ALG1 NKX3-2 PLD1 DLL3 POP1 ALG9 LDB3 MAP3K7 PNKP MYOD1 CSRP3 TG CUL7 CHAT SERPINH1 ATP6V1A CTCF RBBP8 HIC1 CXCR4 ARL3 LRAT TSHR IL6ST GABRD TBXT DPAGT1 POMGNT1 PLP1 CYP2R1 SNRPB ALS2 PRKCD NDE1 PEX1 SCN1B LAGE3 NEXN CRB1 PHACTR1 GLE1 CCDC47 MPLKIP FANCL PLEKHG5 DDX59 RAF1 MED13L PORCN KIF14 MMP14 LIMS2 PNPT1 MT-TK PCNA RHOA SOX11 MMP20 KIF1A TELO2 WDR26 DAG1 SNIP1 SHANK3 SLC25A22 FLI1 OTULIN TMEM70 FASLG FAM20C LDHD KIAA0319L UNC80 MCTP2 EMG1 ARVCF GFM2 CRX PRUNE1 KIF5A HBA1 RBP3 SDHC VPS33B ZNF513 RNASEH2B NOG UBE2T PTCH1 MAF SMC1A HS6ST1 ACTB SPTBN4 CDKN2C RFC2 C12orf65 SRP54 SNAP25 MEIS2 PRPF8 FOXP1 LTBP3 PROKR2 GORAB DDHD2 CHRNE JMJD1C TBC1D20 PPOX NRL DYSF IDS POLR1C NFIA MT-TH ECM1 ALG2 DYM EHMT1 TCIRG1 CDH11 SOX4 B3GAT3 MT-TS2 ARID1A CPT2 CDC45 NR2E3 CDC6 KCNJ6 CFL2 ASCC1 PIGS TNXB CLCN4 SEC24C IFITM5 NEUROD2 NSUN2 MAGEL2 BMP4 FTO SYT2 ISL1 CLRN1 MTMR14 RIPPLY2 FANCE SMARCC2 STAG2 RFWD3 CDH3 SMG9 MT-TQ WIPI2 CLCF1 SLC10A7 INPP5K GNS ARL2BP SMARCA2 ADNP LONP1 CDK5 P4HTM PRPF3 WHRN SMC3 GTF2E2 CASK AIMP2 AP4S1 FARSB RERE TMEM67 TAF1 PDZD7 MLXIPL FREM2 KIF5C ORC1 ACP4 OBSL1 CHN1 EXOSC3 DNMT3B SMARCA4 AHI1 SAG ITGA7 NPHP3 LRRC8A SHPK PLN PLOD3 HLA-A DMP1 RAPSN NEFL ACADS GTF2I BMPER DEGS1 IFT52 DHX38 KBTBD13 COG5 STAC3 CYP26C1 SOX10 HLA-B GNA11 EBP CYBA BRPF1 SCYL2 ABCD4 NSD1 WASHC5 NCF2 FANCC ROM1 SIK1 TBL2 SIK3 IRF6 POLD1 AHSG OPA1 TCF3 PTH1R CYBB FSCN2 GRID2 IMPG2 BTK KDM6A MYH6 POLA1 HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA DNMT1 FLT4 FOXC2 SOX18 VEGFC GJC2 HP_DIFFICULTY_CLIMBING_STAIRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_CLIMBING_STAIRS GMPPB TFG RRM2B TWNK DYSF TCAP POMK SGCA FKRP PLEKHG5 DMD ALG2 RNASEH1 DNAJB6 DPAGT1 POMT1 CAPN3 DAG1 TTN HADHA PLEC MT-TE POLG TPM2 POLG2 SGCG POMGNT1 MYPN ANO5 MFN2 POMT2 RYR1 FLNC VCP PYROXD1 LAMA2 GFPT1 ACTA1 TPM3 SPEG ADSS1 KBTBD13 HADHB MYOT SLC25A4 VMA21 BIN1 ALG14 HP_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_STIFFNESS KAT6A DARS2 CRYAB BSCL2 POLG INPP5K SLC6A5 MT-ATP6 SIL1 KRAS CPT2 NEB KIF11 SPAST FGFR1 GPHN MAPT PANK2 HINT1 VAMP1 CACNA1S DHCR24 MYO5A ATAD1 GLRB DNAJC6 TREX1 RYR1 SLC2A1 ARX ACADL CAV1 RNASEH2C KBTBD13 ATP13A2 ACADVL TPM3 SCN4A TK2 TPM2 CAV3 RNU4ATAC CLCN1 GLRA1 PYGM TNFRSF1A KIF5A PRKAR1B MYOT ACTA1 RNASEH2A ATP2A1 KCNJ18 ANO10 STIM1 LDHA CAVIN1 PSAP REEP2 MYPN GALC KCNA1 FOS PODXL KLHL41 ADAR RNASEH2B LDB3 IFIH1 KIF1A SYNJ1 SAMHD1 AGPAT2 PHKA1 SLC16A1 PPARG ANO5 ZFYVE26 GABRA3 HP_TYPE_2_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_2_MUSCLE_FIBER_ATROPHY ORAI1 CHRNE COLQ PNPT1 LAMB2 CHRNA1 CASQ1 STIM1 CNBP GFPT1 CHAT SARS2 HP_MUSCLE_FIBER_SPLITTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_SPLITTING CAPN3 TTN DYSF NEFH TNXB ANO5 LDB3 TRPV4 FLNC CRYAB DNAJB6 MYH7 ADSS1 ACTA1 HP_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_DYSTROPHY TRIM32 TTN SGCB HNRNPA2B1 CEP57 CAPN3 POMK INPP5K ANO5 PNKP SIL1 COL6A2 SGCA FKRP POMT1 B4GAT1 CRYAB LMNA EMD CRPPA TRAPPC11 LARGE1 TMEM43 POMGNT1 BVES GMPPB POMT2 LIPE FKTN COL4A1 SYNE2 DPM3 SYNE1 COL6A3 LIMS2 COL12A1 B3GALNT2 POMGNT2 DMD RYR1 CHKB FRG1 RXYLT1 DYSF HNRNPA1 TRIP13 DAG1 NR0B1 COL6A1 TNPO3 LAMA2 BUB1B ITGA7 SGCD DNAJB6 DPM1 PLEC PIEZO2 TCAP CAV3 SMCHD1 SGCG AHCY FHL1 SELENON BUB3 MYH7 BUB1 PHGDH CAVIN1 GK PSAT1 ACTA1 TOR1AIP1 HNRNPDL TRIP4 BAG3 HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE DYRK1A CDC6 ORC6 TBCE ORC4 PIK3R1 EIF2S3 ORC1 B3GLCT CDT1 SMAD4 HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION APOA5 ANGPTL3 MTTP APOC3 MSMO1 APOB NGLY1 SAR1B PANK2 CCT5 HP_ELEVATED_ERYTHROCYTE_SEDIMENTATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_ERYTHROCYTE_SEDIMENTATION_RATE IL2RA COPA STAT4 MYD88 STING1 PSMB9 MVK MEFV ANKRD55 NLRP3 IL2RB HLA-DRB1 TREX1 POMP TNFRSF1A CTLA4 IFNGR1 PSMB8 CD247 PTPN2 PSMB4 MIF PTPN22 ITK ARPC1B IL6 SPP1 HLA-DPB1 LACC1 HLA-DPA1 TGFB1 NOD2 IRAK1 PRTN3 HP_LOW_PLASMA_CITRULLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_PLASMA_CITRULLINE MT-TL1 MT-ATP6 MT-ND1 MT-ND3 MT-TK OTC MT-TV MT-TW MT-ND5 MT-ND4 MT-ND6 MT-ND2 PCK1 CPS1 HP_INCREASED_TOTAL_BILIRUBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_TOTAL_BILIRUBIN PRKCSH SLC4A1 KCNN4 PIEZO1 PRF1 PFKM SEC63 CPT2 LIPT1 LRP5 POLG2 HP_CONGENITAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ONSET MYSM1 GLE1 TBXT COL13A1 SLC1A4 TRIP4 CTSD ELP1 CCDC88C B4GAT1 KIFBP EPS8 ATP11C SERPINE1 PSAT1 SLC6A9 CLP1 COASY EGR2 TTC25 ERGIC1 ZNF335 MOGS CLCNKA MRPS14 HRAS SYNE1 MRPS22 CHMP1A FUT8 LRP4 GSC PUF60 DNM2 RSPH3 TUBA8 ELP2 GREB1L TMEM231 UROS LGI4 RHOA LAMC2 NCAPG2 PSAP CHRNE HBG2 ATP8A2 ATP5F1A AP4E1 SMARCD2 MEGF10 CRB2 STT3B NDUFB11 PIGG EP300 CA8 FKRP COG6 DCHS1 CNOT1 KRT14 GMPPB LAMA2 PC CDK5 PI4KA DCPS CHRND RARS2 NALCN USP18 DSTYK ITGA8 POMK MRPS16 AP4S1 IGF1 DONSON ZC4H2 TSEN2 MYL1 PTRH2 SLC2A10 TOP3A LIPT2 F2 LAMA3 COQ7 KIF5A POMGNT1 TARS2 TRAPPC12 WDR81 EED KIF5C PCLO PEX12 NUP37 NEDD4L CNTNAP1 PIGN COL25A1 MBOAT7 SLC39A8 VRK1 TSEN54 PRUNE1 FCSK PREPL VIM F13A1 ATP6V1B2 EXOSC3 ASPM BCL11B DOCK2 SELENON TAF1 CREB3L1 CENPF COL7A1 CHAT TOE1 C2CD3 SSR4 STAMBP CLCNKB PIGO UQCC3 HERC1 NEK8 NEXMIF SLC25A4 IER3IP1 EBP CLPB MYH7 CSPP1 KPTN RMND1 SPTBN4 CCDC103 ERCC1 NUP88 AP4B1 TYR VLDLR PIGY ITGB4 NRAS TTN MECP2 PGAP2 ATP2B3 ATN1 HPGD PLEC HELLS LRTOMT MID2 RNF13 BICD2 NDUFAF3 MED25 SCN5A EPG5 ZBTB24 RAPSN OFD1 BCL11A LAMB3 MPDZ ATAD1 ITGA6 CHRNB1 BRAF NPHS1 TXN2 AP4M1 SLC25A19 COA5 PLK4 KRT5 DNAL1 HOXB1 ROBO3 TMEM70 PLAA IBA57 WDR62 TUBB DPH1 STT3A CEP135 TFAM PDHX BICC1 TRIM36 CHKB CDCA7 TBCK STIL CCND2 TSEN15 NDUFA2 KLF1 GLS DVL1 BRPF1 TUBB3 MMP1 AFF4 POLE ITPR1 SCO2 ALG9 ABCD4 MPDU1 TPM3 CD8A MPC1 WDR4 JAM3 HCN4 TUBGCP6 ACTA1 MARS2 RYR1 GFM1 SLC25A24 CHAMP1 ARHGEF9 LARS2 NDE1 CIB2 DNAAF3 AP1S1 ELOVL4 KIAA1109 HK1 DPM2 NKX2-1 NAA10 CDK10 RFWD3 MAP11 ASCC1 CDSN PDE4D BSCL2 DPAGT1 IARS1 IGF1R FAT4 TPM2 CENPJ TELO2 TUBGCP4 F13B KIAA0556 ABCA3 NUS1 MBTPS2 TRMT10C AARS1 GPRASP2 POLR3A MYO7A BSND MTO1 FLT4 SNAP25 MFSD2A ARMC9 AP3B1 SLC16A2 SOX18 CIT HP_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADULT_ONSET TTN PDGFRB CP MED25 MN1 IGF2BP2 CYLD PMVK TERT GSN SLC2A2 CLN6 NOL3 POLG CSF1R TTR XPR1 SCN10A POT1 MYORG ARHGEF10 SAMD12 CRYAB PDGFB SMN1 TNFRSF13C MUC1 FHL1 PLD3 ABCC8 PTEN PTPN1 SDHB TSC2 TOP3A APOE WFS1 CHMP2B HMGA1 VPS13D PSEN1 NAGA KCNJ11 TSC1 DPM3 PPP1R3A PAX4 TCF7L2 HNF1A OSMR RFC1 MATR3 TTBK2 SUFU STIM1 SEC63 TBK1 SDHD PRKCSH AKT2 FLNC SPG7 AKT1 SMARCE1 RTEL1 SPG11 TGM6 DMD DNAJB11 POLG2 ANKH BEAN1 DNAJC5 CTSF ERBB4 MTNR1B TRPC3 PRNP C1QBP DYSF LDB3 DNMT1 C9orf72 TNPO3 VSX1 CDH23 NEUROD1 IRS2 MME COQ2 KIF5A FAT2 HSPB1 TIA1 AAGAB DNAJB6 CAPN3 ITPR1 SDHAF2 ZNF687 EEF2 NF2 SMCHD1 MARCHF6 LMNB1 GBA HJV PARK7 GBE1 TMEM43 SNCA TNNI3 PABPN1 SLC20A2 PNKP PDX1 TREX1 FMR1 ATL1 TWNK STARD7 DDX41 PARN CAV3 GNE SPRY2 DCTN1 DRD5 ENO3 TERC NOTCH3 RAPGEF2 APTX FBXO7 RETN ENPP1 AR LIPC CCDC88C TAF1 ANO5 POLE GPD2 PPARG MAPT GDAP2 PIK3CA TFG ATXN1 IRS1 MTOR SYNE1 HNF4A PSEN2 GCK DGUOK HNF1B SLC25A4 WASHC5 SLC30A8 HNRNPDL PNPLA2 ACTG1 CPT1C UBQLN2 GNAS MAPK8IP1 SDHC F5 MYOT ATP1A3 RNF170 COCH PRKN HP_LATE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET ENPP1 PPP1R3A IGF2BP2 PAX4 TCF7L2 HNF1A LIPC SLC2A2 GPD2 PPARG AKT2 IRS1 HNF4A GCK BEAN1 PDX1 ABCC8 HNF1B MTNR1B PTPN1 SLC30A8 APOE LDB3 WFS1 HMGA1 MAPK8IP1 NEUROD1 IRS2 KCNJ11 AAGAB RETN HP_INSIDIOUS_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSIDIOUS_ONSET MAPT GBA MPZ WASHC5 SNCA NIPA1 TBP SPAST EIF4G1 PMP22 ADH1C ATXN8OS OPA1 SNCAIP ATL1 NR4A2 GLUD2 ATXN2 HP_INFANTILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ONSET S1PR2 HEPACAM SLC6A8 GLRA1 POMK SUCLA2 CPT2 RPS28 NARS2 IKBKB SURF1 KRT81 AMMECR1 POLG SPTBN2 SPTAN1 NDUFV1 NEB CD59 GABRB3 CC2D2A PNPLA8 PINK1 ADAM22 CPLX1 NDUFAF1 NDUFV2 ADSL BOLA3 EGR2 MTFMT SLC2A1 TSC1 TH MRPL44 CHRND PDP1 NGF RNASEH2A ADD3 CDKL5 ALG11 ADGRV1 DHPS CHRNA1 GFPT1 NDUFAF8 TSHR HAX1 IREB2 PHKG2 SRD5A3 EEF1A2 TNNT1 HSD17B10 KCNB1 MPV17 HNMT SLC7A7 AGK DYNC1I2 DLG4 HIBCH CLIC5 TMTC3 MMP2 L2HGDH VPS33A ILDR1 EDC3 MYMK GCH1 DNAAF4 CUX2 GJC2 COL6A3 YWHAG SEPSECS GNAS SFTPB AP3D1 PSAT1 BCS1L RERE UQCC2 PLP1 SELENON LRPPRC RAG2 VARS1 GEMIN4 WDR45B RDX TBR1 CHD3 NDUFB9 TBC1D24 EXT2 DHX30 SLC18A2 PTPRQ IGHM CXCR4 ZAP70 ZSWIM6 ACTL6B LMAN2L FAM126A COLQ JPH1 QDPR HSD17B4 VPS45 ATP8B1 SOST DDC CTC1 NDUFS2 CAV1 GTPBP2 MMAA MTR TK2 METTL23 MACF1 LMBRD1 CORO1A GPHN PCDH15 C12orf57 AIFM1 ALG13 TSC2 FRMPD4 GABRG2 ITPA SDHA CACNA2D2 TXN2 KCNMA1 FKTN SIL1 CHRNE DCDC2 FERMT3 WNK1 SUCLG1 VDR NLRP3 MED13L EPO PCK1 RETREG1 PLA2G6 MLC1 NKX6-2 SASH1 TMEM94 SLC12A5 BRF1 PLG COL6A1 ASH1L CD3E NFKBIA RPL35A SCN4A MAST1 CCDC115 DPM1 VPS53 SLC35A1 PCDH19 SDHD PTS TGM3 NAGA TCTN2 ACOX2 SMPD1 MFF NDUFS1 PRKCD NDUFA10 PRDX1 NTRK1 KIDINS220 CCT5 FZD4 COQ6 DAG1 HUWE1 RPS26 POMC BRAT1 PIGT PSAP RAB27A FRMD7 TMEM67 LCK DDX3X TRPM6 CD3D TRPA1 CAVIN1 LAMA3 NGLY1 SPECC1L KCNA2 HIVEP2 MAGEL2 KRT83 COG2 ROR1 PDHA1 ARFGEF2 KDM5B MTRR GATA1 SLC25A12 GATM GP6 MMADHC ADAR DLAT POMT1 TUBB6 SLC33A1 TRIT1 GJB3 UVSSA NLRP12 DEAF1 PAX2 ACO2 KMT2E SNAP29 KLHL7 TRMT1 PTCHD1 GRM1 SLC46A1 PIK3R1 EIF2AK3 RPSA SLURP1 TBX19 PGAP3 SLC39A4 ARV1 CD79B PLEKHG2 ISCA1 IGLL1 VAMP2 SCNN1B RASGRP2 NEUROD2 CYP2R1 RFT1 DNAAF5 RAG1 ELANE HNRNPU NFE2L2 ATPAF2 TUFM CTDP1 SCNN1A SCN1A AUH IFT140 ABCB11 CAD AKT1 GRIN1 SNX14 DCX CYB5A DOCK8 GABRB1 P4HTM BCORL1 VARS2 VAMP1 FMN2 MFN2 ACOX1 IL21 PRKDC PIGP CTNNB1 MYO5A AIMP2 FARSB TRAC LRP5 KCNH1 GLRB RYR1 STAT3 GPAA1 RUSC2 GPD1 PAK1 MMACHC KCNQ2 SPR SDHAF1 MYH7 HCFC1 PRMT7 COX10 GAD1 YME1L1 ABCB4 ADAT3 PLCG2 HEXA RORC IMPDH1 TCF3 ABCD3 WAC NDUFS4 DOCK7 KRT86 TRAPPC2L SCN9A EARS2 ERCC4 CWF19L1 TLK2 MRPS7 GRIN2D NDUFB8 MIPEP KATNB1 CD247 ADNP GRIK2 AASS JAG1 TTN CEP104 SCN2A MPZ SYT1 FGD4 SAR1B LIPT1 PSPH FLNA NUP214 SLC10A2 ALDH5A1 GATAD2B OPHN1 WDR26 PMPCA GFAP SPEG ACADSB COL6A2 DDOST PNKD PCDH12 GFI1B TRIOBP CHD1 BCL10 COX4I2 CLPX KIF1A GNB1 ERCC6 TTI2 ERCC8 ATAD3A COX15 HYDIN PUS3 HERC2 HNF1A SLC6A5 DARS1 TRAPPC9 GJB2 EBF3 ITGA7 TBCE RPGRIP1L RANBP2 HIKESHI TIMMDC1 GDAP1 SACS PPP2CA KCNT2 ASXL2 NR3C2 LARGE1 KITLG ATP6AP2 CA12 CARD11 PHIP PMP22 TUBGCP2 ADK GJA1 FOXRED1 AFG3L2 LCA5 NDUFA13 PRX UPB1 SLC35A2 SLC25A38 SLC25A26 GRID2 PDE10A KCNJ10 SCNN1G MUSK ZNF142 TMX2 MTOR SARS2 BLNK SCN3A ALS2 SLC6A3 MCOLN1 RNASET2 MRPS2 RPS19 SLC34A3 POMT2 WDR73 AP1S2 WDR81 PARN HP_MIDDLE_AGE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDDLE_AGE_ONSET SNCA PMVK APOE DRD5 PSEN2 HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY CASP10 ADA2 TREX1 DNASE1 FCGR2B FAS FASLG PRKCD FCGR2A RASGRP1 CTLA4 STAT4 IRAK1 PTPN22 STAT1 SPP1 HP_JUVENILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ONSET NLGN4X SGCB PMP22 ADCY5 ATP2B3 EIF2B3 NLRP3 EIF2B4 SPG11 NEFL CASP10 TPP1 CHST6 EXT1 LMNA SGCA CC2D1A NCF1 TRPV4 EMD CACNB4 AIRE EXT2 MPV17 CFH RETREG1 MPZ CFI PANK2 UMOD DOK7 CBLIF ASAH1 TPM3 ALS2 NLGN3 MEFV CTNS TNFRSF4 EGR2 WARS1 PYGM CYBA SGCE DNM2 SMPD1 NDRG1 TNPO3 COL6A2 SLC19A3 PNPLA6 MMP2 ITPR1 SLC12A3 GFPT1 GALNS LMNB2 GALNT3 NCF2 CLDN16 NKX2-1 TNNI3 NAGLU ATP7A LITAF GLB1 GNAS EIF2B1 MYH9 TGFB1 CCT5 SBF2 ACP5 SCN9A SLC52A3 GAN HPCA DDHD1 CYBB GLA APTX NPHS2 ITK KCNA1 FXN LDHA EIF2B5 MFSD8 ISCU PLP1 EIF2B2 TREX1 CLCN7 ABCB7 HP_NEONATAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ONSET CYP11B2 KRT14 LAMB2 KCNJ11 HSD3B7 STXBP1 CYP7B1 SELENOI NEUROG3 STING1 ACADS AQP2 RYR1 ASL GDAP1 CYP11B1 ASS1 AKR1D1 MMAB KCNQ2 AMACR AVPR2 HSPD1 KRT5 NDUFAF4 SLC1A2 ARHGDIA SCN9A PIGP HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS PPARG ZMPSTE24 CAV1 PLIN1 LMNA BSCL2 AGPAT2 LMNB2 LIPE CIDEC FOS CAVIN1 HP_HEMOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOGLOBINURIA PIGT PIGA CFH NT5C3A PIEZO1 G6PD CD46 CD59 CASK HELLPAR CFI HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE DPM1 SRD5A3 ALG11 ALG13 DPM2 ALG1 PGM1 DDOST PMM2 DPAGT1 MPI COG5 ALG3 DPM3 ALG6 SSR4 HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME DPM1 F8 F2 GGCX F10 LMAN1 GNE F11 F5 KLKB1 PMM2 F12 F9 EFL1 MCFD2 ALG12 GATA6 HP_LACTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTICACIDURIA MT-TL1 MT-ATP6 LDHD GATM MT-ND1 MT-ND3 MT-TK MT-TV MT-TW MT-ND5 SLC25A21 MT-ND4 MT-ND6 MT-ND2 HP_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOAM_CELLS CSF2RA SC5D SMPD1 NPC2 NPC1 LCAT ASAH1 CSF2RB GLB1 HP_HYPOMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETHIONINEMIA MTR PRDX1 MTRR MMADHC MMACHC HP_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONSET PDGFRB NLGN4X CYLD SLC1A4 HEPACAM SLC6A8 GLRA1 CLN6 ELP1 NEUROG3 PMP22 CHRNA4 B4GAT1 ARHGEF10 SAMD12 KRT81 POLG NEFL SPTBN2 TACSTD2 CLP1 NDUFV1 NEB CD59 CC2D2A PINK1 ERGIC1 MOGS HMGA1 TRPV4 NLGN3 NDUFAF1 NDUFV2 ADSL BOLA3 EGR2 MTFMT KRT5 SLC1A2 SLC2A1 TSC1 PPP1R3A CHMP1A PAX4 GSC SUFU RNASEH2A RSPH3 TUBA8 ADGRV1 DHPS TPM2 GFPT1 LGI4 POLG2 LAMC2 NCAPG2 HAX1 IREB2 MEGF10 SRD5A3 EEF1A2 TNNT1 DNMT1 HNMT PI4KA SLC7A7 DYNC1I2 DLG4 PNPLA6 HIBCH L2HGDH MRPS16 ILDR1 LMNB2 PTEN EDC3 GALNT3 CLDN16 MYH7 LACC1 CUX2 GLB1 POMGNT1 TRAPPC12 PDX1 YWHAG SEPSECS NEDD4L GNAS SFTPB COL25A1 SLC39A8 PSAT1 GUCY2D BCS1L POT1 VRK1 F13A1 DMD PLP1 GLA NPHS2 RETN VIM RAG2 VARS1 GEMIN4 WDR45B RDX TBR1 DOCK2 CHD3 TAF1 GPD2 MAPT MFSD8 ABHD12 IGHM HNF4A PSEN2 SSR4 UQCC3 ZSWIM6 DGUOK ACTL6B LMAN2L NEXMIF FAM126A CFB COLQ JPH1 HSD17B4 UBQLN2 CLPB DDC NPC1 CTC1 AP4B1 COCH PIGY IGF2BP2 NDUFS2 MECP2 PLEC SPG11 MTR TK2 MACF1 LMBRD1 RNF13 CORO1A GPHN PCDH15 MUC1 C12orf57 AIFM1 PLD3 OFD1 ALG13 SDHB TSC2 ITPA CC2D1A NCF1 CACNA2D2 CHMP2B CHRNB1 COG6 FKTN PLK4 CACNB4 DPM3 SIL1 HNF1A RFC1 CFH DCDC2 TSEN54 PLAA CEP135 TFAM F2 PDHX CRB1 BICC1 EPO TBCK PCK1 STIL RETREG1 TNFRSF4 PLA2G6 ATP5F1A DNAJC5 MLC1 NKX6-2 DIAPH1 TMEM94 DVL1 PLG MMP1 PRKAR1A COL6A1 RPL35A SCN4A RPS29 FAT2 HSPB1 TPM3 MAST1 CD8A DNAJB6 CAPN3 SDHAF2 VPS53 SDHD EEF2 LMNB1 NAGA ACOX2 CHAMP1 SPART LARS2 NDUFS1 PRKCD CIB2 PRDX1 MPZ EIF2B1 TGFB1 KIDINS220 CCT5 ELOVL4 KIAA1109 HK1 NKX2-1 SBF2 NAA10 HUWE1 TERC RFWD3 GABRG2 RPS26 NOTCH3 BRAT1 PIGT LAMB2 PSAP MME CCDC88C TRPA1 CAVIN1 ANO5 GDAP2 KCNA2 HIVEP2 IGF1R FAT4 MTHFR PDHA1 F13B KIAA0556 NUS1 UFSP2 KDM5B MTRR GATM GP6 WASHC5 MMADHC DLAT POLR3A MTO1 HSPD1 F5 TUBB6 SLC33A1 ARMC9 TRIT1 GJB3 UVSSA NLRP12 PMVK XPC COL13A1 KMT2E SNAP29 EIF2B3 CHRNA1 GRM1 NLRP3 EPS8 EIF2AK3 SMN1 COASY TBX19 PGAP3 ZNF335 SMPX CLCNKA CD79B ISCA1 IGLL1 SYNE1 VAMP2 MRPS22 NEUROD2 PUF60 SEC63 GREB1L PRKCSH CBLIF UROS ELANE HNRNPU ATPAF2 CHRNE SCNN1A SCN1A IFT140 CAD TGFBR1 STT3B PIGG GARS1 C1QBP FKRP DCX SMPD1 TNPO3 PC BCORL1 DCPS VAMP1 FMN2 IL21 AAGAB USP18 PRKDC PIGP POMK MYO5A GALNS GLRB NF2 MARCHF6 IGF1 DONSON GBA MYL1 TNNI3 NAGLU PPT1 KIF5A TARS2 GPD1 EED NUP37 CNTNAP1 MMACHC KCNQ2 SCN9A FCSK SPR SDHAF1 DDHD1 HCFC1 COX10 FBXO7 ABCB4 ADAT3 PLCG2 PLCE1 HEXA TWNK BCL11B CYP7B1 TCF3 ABCD3 POLE EIF2B5 NDUFS4 PIK3CA CENPF DOCK7 KRT86 TOE1 CLCNKB GDAP1 TRAPPC2L PIGO EARS2 ASS1 CWF19L1 TLK2 EBP GRIN2D NDUFB8 MIPEP CD247 MYOT ERCC1 ATP1A3 RNF170 TTN TYR GRIK2 CYP11B2 JAG1 PGAP2 ATN1 HPGD LRTOMT SAR1B MED25 COL9A1 EPG5 SLC10A2 PTPN1 BCL11A MPDZ APOE GATAD2B WDR26 BRAF SPEG NPHS1 ACADSB COL6A2 AIRE GFI1B HOXB1 EXT2 MPV17 TRIOBP CHD1 STXBP1 DPH1 DOK7 SLC34A2 ERCC8 AKT1 ALS2 AAAS HYDIN MEFV PUS3 ANKH TSEN15 ERBB4 SLC6A5 GATA1 PRNP DYSF C9orf72 GJB2 ITGA7 ALG9 SH3BP2 MPC1 TBCE RPGRIP1L JAM3 RANBP2 HIKESHI SMCHD1 SACS PPP2CA KCNT2 SLC20A2 ASXL2 NR3C2 LARGE1 KITLG ATL1 CARD11 PHIP DDX41 SNRPN ADK GJA1 FOXRED1 AFG3L2 ENO3 CDK10 RAPGEF2 ITK LCA5 NDUFA13 PDE11A UPB1 KCNA1 SLC25A38 SLC25A26 DPAGT1 ATXN1 PDE10A KCNJ10 SCNN1G TMX2 MTOR CENPJ ABCA3 HNF1B SCN3A SLC6A3 MCOLN1 RNASET2 PNPLA2 AARS1 CPT1C MRPS2 RPS19 POMT1 GPRASP2 SLC34A3 POMT2 SLC16A2 PARN MN1 S1PR2 GLE1 TBXT SLC2A2 SUCLA2 CPT2 EIF2B4 RPS28 NARS2 KIFBP IKBKB PLEKHG5 SURF1 ATP11C TNFRSF13C SERPINE1 AMMECR1 OCRL SLC6A9 SPTAN1 TPP1 GCH1 GABRB3 PNPLA8 WFS1 ADAM22 CPLX1 MRPS14 TH MRPL44 FUT8 CHRND LRP4 LIMS2 PDP1 TTBK2 NGF TMPRSS3 ADD3 CDKL5 DNM2 CLCN1 ELP2 ALG11 UMOD RHOA RYR1 NDUFAF8 TSHR HBG2 AP4E1 SMARCD2 PHKG2 CRB2 WARS1 NDUFB11 HSD17B10 EP300 DCHS1 KCNB1 GMPPB CDH23 COQ2 AGK RARS2 DSTYK ITGA8 CLIC5 TMTC3 MMP2 VPS33A HSD3B7 MYMK ZC4H2 TSEN2 GBE1 SNCA DNAAF4 TOP3A LIPT2 GJC2 PABPN1 ASL COL6A3 FMR1 AP3D1 PIGN MBOAT7 PRUNE1 RERE UQCC2 SELENON APTX DYNC1H1 LRPPRC HABP2 ATP6V1B2 AR LIPC ASPM NDUFB9 CREB3L1 TBC1D24 WT1 AQP2 DHX30 SLC18A2 PTPRQ C2CD3 IRS1 CXCR4 TREX1 STAMBP ZAP70 HERC1 SLC25A4 QDPR VPS45 ATP8B1 LMNA HNRNPDL AVPR2 MAPK8IP1 SDHC CSPP1 KPTN SPTBN4 CCDC103 SOST NUP88 VLDLR SGCB CP CAV1 GSN ATP2B3 NOL3 HELLS GTPBP2 XPR1 COL7A1 MMAA SCN10A METTL23 MYORG MID2 CRYAB BICD2 NDUFAF3 SCN5A ZBTB24 CHST6 FRMPD4 ITGA6 SDHA CYP11B1 TXN2 KCNJ11 KCNMA1 EMD COA5 DNAL1 ROBO3 CFI TMEM70 FERMT3 WDR62 STIM1 WNK1 SUCLG1 VDR SPG7 MED13L DNAJB11 CHKB CTNS TRPC3 SASH1 SLC12A5 BRF1 NDRG1 ASH1L CD3E NFKBIA NEUROD1 ITPR1 SLC19A3 SCO2 TIA1 TIMM8A CCDC115 DPM1 SLC35A1 PCDH19 PTS TGM3 HJV ACTA1 TCTN2 ATP7A SLC25A24 ARHGEF9 MFF NDE1 PNKP NDUFA10 NTRK1 FZD4 COQ6 SPRY2 SLC52A3 HPCA DAG1 POMC ASCC1 RAB27A FRMD7 TMEM67 LCK DDX3X TRPM6 PDGFB PDE4D CD3D LAMA3 NGLY1 SPECC1L BSCL2 SLC5A7 IARS1 MAGEL2 KRT83 COG2 ROR1 ARFGEF2 SLC25A12 ADAR TRMT10C FLT4 CLCN7 MFSD2A ABCB7 DEAF1 PAX2 MYSM1 ACO2 TERT TRIP4 ADCY5 KLHL7 TRMT1 CTSD PTCHD1 SLC46A1 PIK3R1 RPSA FHL1 ABCC8 SLURP1 SGCA SLC39A4 TTC25 ARV1 VPS13D PLEKHG2 HRAS SCNN1B RASGRP2 MATR3 CYP2R1 RFT1 DNAAF5 PANK2 RAG1 TMEM231 FLNC NFE2L2 RTEL1 TUFM CTDP1 ATP8A2 AUH ABCB11 SYNE2 AKR1D1 GRIN1 SNX14 CA8 CYB5A SGCE DOCK8 CNOT1 KRT14 GABRB1 LAMA2 CDK5 P4HTM VSX1 VARS2 MFN2 NALCN ACOX1 CTNNB1 AIMP2 AP4S1 ZNF687 FARSB TRAC LRP5 NPC2 KCNH1 SELENOI STAT3 GPAA1 PTRH2 SLC2A10 COQ7 RUSC2 WDR81 KIF5C PCLO PEX12 STARD7 PAK1 ACP5 GNE DCTN1 GAN PRMT7 BIN1 GAD1 PREPL YME1L1 RORC EXOSC3 IMPDH1 WAC PPARG CHAT ISCU EIF2B2 ERCC4 NEK8 IER3IP1 MRPS7 PRPS1 RMND1 KATNB1 NDUFAF4 ADNP PRKN AASS ITGB4 NRAS CEP104 SCN2A CSF1R TTR ACADS SYT1 FGD4 LIPT1 PSPH FLNA CASP10 NUP214 RAPSN EXT1 MMAB ALDH5A1 LAMB3 ATAD1 OPHN1 PMPCA GFAP PSEN1 AP4M1 DDOST SLC25A19 PNKD PCDH12 ALAS2 TCF7L2 OSMR BCL10 IBA57 COX4I2 CLPX KIF1A GNB1 TUBB TBK1 ERCC6 TTI2 STT3A AKT2 ASAH1 ATAD3A SMARCE1 COX15 TGM6 TRIM36 CDCA7 CCND2 FRG1 BEAN1 HERC2 CTSF NDUFA2 MTNR1B KLF1 PYGM GLS CYBA DARS1 BRPF1 TRAPPC9 LDB3 TUBB3 AFF4 IRS2 EBF3 ABCD4 MPDU1 SPG21 WDR4 HCN4 SLC12A3 TUBGCP6 TIMMDC1 PARK7 STING1 NCF2 TMEM43 MARS2 GFM1 LITAF CUBN KIF1B ATP6AP2 DNAAF3 CA12 MYH9 AP1S1 DPM2 CAV3 TUBGCP2 DRD5 CYBB ARHGDIA MAP11 ENPP1 CDSN PRX FXN SLC35A2 LDHA TFG GRID2 MUSK ZNF142 SARS2 BLNK GCK TELO2 TUBGCP4 FLVCR1 MBTPS2 SLC30A8 ACTG1 COL9A2 AMACR MYO7A BSND FECH SNAP25 WDR73 AP1S2 AP3B1 SOX18 CIT HP_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE PDGFRB ASNS CCNO MAP2K1 MICOS13 MTAP ELP1 TTN FAN1 ERLIN1 ATXN3 ADH1C GBA2 SURF1 RUBCN PDGFB PRICKLE1 KCNK3 RNASEH2C SMN2 POLG CSF1R HINT1 SGCA NUP160 AARS2 PNPLA8 CRAT VPS13C TBP ASAH1 TJP2 LMNA ATXN8OS INPP5K ISCA1 KCNT1 SYNE1 TRAK1 KMT2B LIMS2 B4GALNT1 RRM2B C19orf12 SNCA POMGNT1 ANO5 VAC14 ELP2 GNS UMOD KCNC1 PCNA KCTD17 LRBA SPG11 BSCL2 POLG2 NR4A2 IREB2 SBF1 VPS13A FHL1 CAD AKT1 KIF1A XRCC1 NUP85 DNMT1 SPAST MPV17 ABCD1 COL6A2 COQ2 CHRND RARS2 HK1 AGTPBP1 PNPLA6 COASY AIMP2 FIG4 SLC12A6 UBA5 UCHL1 SQSTM1 COL4A3 STUB1 PTRH2 MECP2 NDUFA12 PABPN1 UBAP1 TRAPPC12 MED17 NUP93 KIF5A COL6A3 PCLO NUP107 FTL GNAS TWNK VCP NALCN MARS1 EXOSC9 BCS1L VRK1 PRUNE1 POLR3A LAMB1 RTN2 PMPCB COX10 FA2H DDHD2 GBA PLCE1 COPB2 VARS1 TRAPPC6B WDR45B DGKE SLC9A1 MAPKBP1 ABCD3 NDUFB9 WT1 OPA1 CYP7B1 NUP133 KIF1C SLC44A4 SYNJ1 MOCS1 GOSR2 REPS1 TRAPPC2L PKD2 TNFRSF11A SLC25A4 COL4A5 MYH14 UBQLN2 CLPB CHCHD10 EPRS1 SOST PUM1 CTC1 NDUFAF2 COCH MAPT NAGLU ALS2 GRHL2 KCTD7 SEC61A1 TBC1D24 AIMP1 SLC52A2 COL4A4 CACNA1A TUBB4A TTR XPR1 TK2 SGPL1 YARS2 MYORG MOCS2 RBCK1 SNCAIP ATXN2 KLC2 DEGS1 POLR3B NUP214 AIFM1 KCNQ4 PRDM8 RNASEH1 ADA2 MECR HSPD1 ATAD1 SDHA BRAT1 PIEZO2 TXN2 DRD3 ISCA2 LYRM7 ZFYVE26 PIK3R5 NEFH DCDC2 RETREG1 NBEAL2 INF2 IBA57 FKTN TBK1 TFAM ACER3 MGME1 AAAS COX15 CFHR5 DNAJB11 MRPS34 CTSF TNFRSF11B SLC39A14 CERS1 NKX6-2 TRPC3 DNM1L DARS1 TYMP COL6A1 NOP56 ANTXR2 SMAD9 EMC1 TBCE IRF2BPL DPM1 MYO1E VPS53 COQ8B LMNB1 ERLIN2 DMXL2 PRKRA DIABLO SLC20A2 MFF NDUFS1 TREX1 PDXK ATL1 PYCR2 SMN1 SPRY2 ADK SETX GPT2 SLC52A3 AFG3L2 SIGMAR1 PEX16 NIPA1 ALDH18A1 SNORD118 AP5Z1 C12orf65 QARS1 PLA2G6 WASHC5 NDUFS7 SLC6A3 MRE11 STIM1 SLC33A1 MFSD2A GLUD2 LMNB2 SOX18 HP_SLOW_PROGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_PROGRESSION TRIM32 TTN BSCL2 ALS2 HEPACAM DYNC1H1 TENM4 CFL2 GRM1 NOL3 PMP22 SPG11 GNB4 GBA2 SURF1 CRYAB PRKCG LMNA SMN1 CRPPA PEX2 SPTBN2 CHCHD10 VWA3B PLD3 TPP1 C19orf12 LRSAM1 KIF1A TBC1D24 NEFL PINK1 DARS2 ORAI1 PDYN DPAGT1 PRX EMD FZD6 MECP2 RFC1 MPZ B4GALNT1 PDK3 PANK2 MCM3AP STIM1 WNK1 ATP1A1 CLN8 REEP2 DNA2 IBA57 SLC34A2 FLNC KY LAMA2 DNM1L HSPB3 TGM6 MCM2 CHKB RETREG1 ALDH18A1 FRG1 LRRK2 DYSF WARS1 SIGMAR1 ALG14 GARS1 MORC2 VMA21 POGLUT1 MME FAT2 HSPB1 TIA1 ALG2 FN1 SPG21 DNAJB6 DNAJC6 MYH7 ITPR1 LRP5 EEF2 PEX10 MYMK PDE8B RYR1 PARK7 GBE1 COL6A1 MYOT TMEM43 ELOVL5 ATP7A ERLIN2 KIF1B DNM2 KCNC3 AIFM1 GYG1 MAG DZIP1L MARS1 MYPN FZD4 COL6A2 LRP12 DCTN1 GAN HPCA DDHD1 PLP1 FGF14 MAP3K20 SCN9A FBXO7 MTPAP MFN2 IGHMBP2 COX6A1 TEAD1 NDUFA13 AR ATP6AP2 COA7 CLCN5 SLC25A4 TMEM240 SETX CCDC88C GDAP2 SLC5A7 DAB1 TFG PYROXD1 ACTA1 GJB1 ABHD12 SYNE1 PMP2 FLVCR1 TOR1AIP1 NLRP3 KBTBD13 CWF19L1 ACTN4 FARS2 HNRNPDL RNASET2 PNPLA2 KCND3 DNAJB2 CPT1C CACNA1G FBXO38 POMT1 AFG3L2 COL6A3 MTMR14 AP4B1 SYT14 ADSS1 HP_RAPIDLY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAPIDLY_PROGRESSIVE PANK2 PNKP PLA2G6 EPM2A ATP13A2 SNCA GDAP1 CSF1R CRYAB FHL1 PRNP SGCG MFSD8 NR1H4 PLEKHG5 HLA-DQB1 DYSF NAXE TARDBP DNAJC5 DCTN1 GRN SFTPB NHLRC1 COQ6 POLG CHMP2B C9orf72 SCARB2 NPHS1 PSEN1 PLEC PEX10 ARHGDIA BAG3 LYRM7 DNAJC6 NPHS2 HP_PACE_OF_PROGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PACE_OF_PROGRESSION PDGFRB HEPACAM DYNC1H1 CCNO TENM4 CFL2 MICOS13 MTAP ELP1 PMP22 GNB4 FAN1 ERLIN1 FHL1 PLEKHG5 SURF1 RUBCN SAMD12 LMNA KCNK3 CRPPA RNASEH2C POLG SPTBN2 TPP1 LRSAM1 NEFL NUP160 AARS2 PNPLA8 PINK1 CRAT VPS13C TBP ASAH1 TJP2 PDYN TRAK1 COL4A4 FZD6 KMT2B LIMS2 MPZ EPM2A C19orf12 SNCA REEP2 ELP2 DNA2 UMOD PCNA KCTD17 LRBA PDGFB LAMA2 GFPT1 DNM1L HSPB3 MCM2 POLG2 NR4A2 IREB2 KRT12 VPS13A LRRK2 KIF1A WARS1 SIGMAR1 ALG14 MORC2 DNMT1 MPV17 COL6A2 MME COQ2 RARS2 HK1 PNPLA6 MYH7 ILDR1 UCHL1 MYMK GBE1 ELOVL5 STUB1 MECP2 CRYAB NDUFA12 PABPN1 KCNC3 UBAP1 DYSF TRAPPC12 NUP93 GYG1 KIF5A COL6A3 MAG FTL GNAS SFTPB VCP NALCN MARS1 EXOSC9 LRP12 BCS1L SCARB2 VRK1 PRUNE1 PLP1 LAMB1 SELENON FA2H NPHS2 MTPAP DDHD2 GBA PNKP TEAD1 COPB2 VARS1 TRAPPC6B AR WDR45B COA7 CLCN5 SLC25A4 SLC9A1 MAPKBP1 NDUFB9 WT1 OPA1 MFSD8 NR1H4 ABHD12 NUP133 SYNE1 TOR1AIP1 TNFRSF11A NHLRC1 HNRNPDL MYH14 UBQLN2 CLPB CHCHD10 SOST CTC1 AP4B1 COCH MAPT NAGLU VLDLR ALS2 GRHL2 KCTD7 SEC61A1 SLC52A2 ATP2B3 PLA2G6 NOL3 TUBB4A SPG11 XPR1 TK2 SGPL1 MYORG MOCS2 SNCAIP PRKCG PEX2 AIFM1 PLD3 PRDM8 RNASEH1 ADA2 COL4A3 SDHA CHMP2B ORAI1 TXN2 DRD3 ISCA2 EMD LYRM7 CHRNE ZFYVE26 PIK3R5 RFC1 DCDC2 INF2 FKTN MCM3AP STIM1 WNK1 ATP13A2 TFAM MGME1 CFHR5 DNAJB11 MRPS34 CHKB RETREG1 DNAJC5 SLC39A14 NKX6-2 TRPC3 TYMP COL6A1 ANTXR2 FAT2 HSPB1 TIA1 ALG2 EMC1 DNAJB6 DNAJC6 IRF2BPL DPM1 ITPR1 TBC1D24 VPS53 EEF2 PEX10 FLNC LMNB1 PDE8B SCN8A ATP7A ERLIN2 PRNP PRKRA NUP107 DNM2 MFF NDUFS1 GRN MYPN PYCR2 FZD4 COQ6 SMN1 SPRY2 GPT2 SLC52A3 HPCA FGF14 ATP6AP2 CCDC88C NIPA1 GDAP2 ALDH18A1 SLC5A7 ACTA1 SNORD118 PMP2 AP5Z1 NLRP3 QARS1 WASHC5 ACTN4 FBXO38 AFG3L2 TUBB6 SLC33A1 MFSD2A MTMR14 TRIM32 ASNS MAP2K1 GRM1 TTN ATXN3 ADH1C GBA2 PRICKLE1 SMN2 CSF1R BSCL2 HINT1 SGCA ATXN8OS INPP5K ISCA1 KCNT1 B4GALNT1 RRM2B PANK2 ATP1A1 POMGNT1 ANO5 VAC14 GNS IBA57 KCNC1 PDE10A SBF1 CAD AKT1 GARS1 XRCC1 NUP85 SPAST VMA21 ABCD1 POGLUT1 CHRND AGTPBP1 COASY AIMP2 FIG4 LRP5 SLC12A6 UBA5 MARCHF6 SQSTM1 RYR1 MYOT PTRH2 MED17 PCLO TWNK STARD7 POLR3A DCTN1 GAN DDHD1 CLDN14 PLEC RTN2 MAP3K20 PMPCB COX10 TRPV4 FBXO7 MFN2 COX6A1 PLCE1 DGKE TMEM240 SETX ABCD3 GJB1 CYP7B1 KIF1C SLC44A4 SYNJ1 MOCS1 GOSR2 REPS1 TRAPPC2L PKD2 CWF19L1 COL4A5 FARS2 CACNA1G EPRS1 PUM1 NDUFAF2 ADSS1 AIMP1 ATN1 CACNA1A TTR ATG5 YARS2 RBCK1 ATXN2 KLC2 TARDBP DEGS1 POLR3B VWA3B NUP214 KCNQ4 MECR HSPD1 ATAD1 PMPCA BRAT1 PIEZO2 DARS2 NPHS1 DPAGT1 PSEN1 PRX YEATS2 HOXB1 NEFH PDK3 NBEAL2 CLN8 TBK1 SLC34A2 ACER3 KY AAAS COX15 TGM6 FRG1 CTSF TNFRSF11B CERS1 DARS1 C9orf72 NOP56 SMAD9 FN1 SPG21 TBCE MYO1E COQ8B PARK7 TMEM43 GDAP1 KIF1B SGCG HLA-DQB1 DMXL2 DIABLO SLC20A2 NAXE DZIP1L TREX1 PDXK ATL1 ADK PEX16 ARHGDIA SCN9A IGHMBP2 NDUFA13 DAB1 TFG PYROXD1 FLVCR1 C12orf65 KBTBD13 NDUFS7 SLC6A3 MRE11 RNASET2 PNPLA2 KCND3 DNAJB2 CPT1C MRPS2 POMT1 BAG3 SYT14 GLUD2 LMNB2 SOX18 HP_NONPROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE COL4A4 YEATS2 VLDLR CHRNE HOXB1 ILDR1 ATP2B3 ATN1 MARCHF6 RYR1 PDE10A SCN8A ATG5 GFPT1 SAMD12 KRT12 COL4A3 CWF19L1 STARD7 PMPCA MRPS2 CLDN14 TUBB6 SELENON TRPV4 HP_LARGE_BEAKED_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BEAKED_NOSE IFIH1 LIG4 TREX1 RNASEH2A SAMHD1 CEP152 RNASEH2C POLR3A ASPH ADAR ERCC2 RNASEH2B XRCC4 HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS TRIM32 SIL1 HNRNPA2B1 TTN MYH7 SELENON DNM2 STIM1 CCDC78 MTMR14 MYF6 ACTA1 RYR1 TPM2 ORAI1 POMT1 SPEG BVES CASQ1 MICU1 TNPO3 BIN1 TRIP4 FXR1 TPM3 SYNE1 HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS COX20 COA3 TWNK POLG SCO1 POLG2 ETHE1 COX6B1 COA8 COX14 TACO1 COX8A MT-TE MT-TN TRMU SLC25A4 COX10 TYMP TK2 RRM2B PET100 PUS1 HP_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MUSCLE_WEAKNESS TRIM32 DYNC1H1 KLHL41 KARS1 SH3TC2 ACTA1 PNKP VAMP1 MTAP AARS1 NEB TRPV4 GBA2 DDHD1 LMNA TIA1 POLG DNM2 FHL1 BSCL2 LRSAM1 EGR2 CD59 HINT1 REEP1 SACS HADHA RRM2B WASHC5 CHRNB1 SYNE2 GMPPB TYMP LMOD3 DMXL2 PHYH CAV1 MPZ ATP1A1 MYPN PIK3CA MYF6 MFN2 TPM3 PMP22 TPM2 SPG11 HSPB3 GALC POLG2 CHRNE ALDH18A1 AK9 SBF1 SLC5A7 VPS13A NUP62 SIGMAR1 LBR GARS1 LIPE MORC2 AKT1 SPAST VMA21 ABCD1 RAB7A POGLUT1 MME GAN PRNP SYNE1 SCN4A RAPSN HK1 SLC12A6 TCAP HSPB1 COL13A1 ADAR CHCHD10 PABPN1 MUSK CAPN1 AFG3L2 RNASEH1 KIF5A SARDH TTN MARS1 DES CAPN3 TWNK MYH14 DYSF LRP12 GNE CYP7B1 DCTN1 SPG21 RTN2 PNPLA2 BIN1 IGHMBP2 CRPPA DDHD2 MYH7 COX6A1 RAI1 DOK7 AR COA7 DGUOK PDGFB SGCG KY FLNC NF1 ATL1 LDB3 TRAF7 PLEC ADSS1 SUFU SCO2 FAM126A COLQ MYOT CHRNA1 NF2 TRIP4 ZFYVE26 CPT1C PDK3 MYO9A BAP1 CRYAB AP5Z1 SLC52A2 ANO5 C12orf65 AGRN TERT SMO NEFL TK2 SNAP25 FGD4 HARS1 EMD FLI1 CACNA1S POU3F4 PNPLA6 KIF1A TMEM43 BVES ATP7B KBTBD13 EXTL3 SPG7 HSPD1 PIEZO2 ORAI1 SQSTM1 PRX SLC33A1 VCP ZFYVE27 MPV17 NEFH TBCE INF2 MCM3AP YARS1 SCYL1 DMPK AMPD1 SMARCB1 SPART IBA57 AMPD3 GYG1 SLC25A1 LRP4 RYR1 CHRND MAPT MT-ATP6 SMCHD1 MTMR14 ERLIN2 KIF1B HSPB8 CHAT POMT1 SLC18A3 FA2H SBF2 PEX7 CFL2 GDAP1 SMN1 PIGN KCNJ18 LYST NIPA1 SMARCE1 PLP1 GJB1 TDP1 SYT2 HADHB DNAJB2 SLC25A4 FBXO38 SLC25A21 DSTYK GABRA3 HP_SCAPULAR_WINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPULAR_WINGING SGCB CCDC8 GMPPB SGCD CAPN3 DYSF ANO5 SGCA NEB ACTA1 RAF1 LMNA ALG2 EMD CRPPA DPAGT1 FHL1 TMEM43 KBTBD13 TPM3 PTPN11 CUL7 TK2 SQSTM1 SYNE2 VCP MYH7 BICD2 C19orf12 MYPN TRPV4 TPM2 LGI4 EYA1 KLHL41 FRG1 SPEG SELENON PAX1 COLQ TNPO3 BIN1 POGLUT1 MYH2 PAX3 SYNE1 OBSL1 MYL2 POLG SMCHD1 SEPTIN9 TRPS1 COL12A1 FLNB BRAF KCNJ2 TTN RYR1 FLNA SGCG POMT2 PYROXD1 HACD1 GFPT1 ITGA7 ATP6V0A2 MAP3K20 LAMB2 DNM1L GNE ALG14 OPA1 HP_DISTAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_AMYOTROPHY SH3TC2 PNKP VAMP1 PMP22 TRPV4 ATXN3 PLEKHG5 GDAP1 LMNA TIA1 KLHL9 NEFL PNPLA6 MAG BSCL2 C19orf12 LRSAM1 EGR2 SACS VPS13D TDP1 ABCA1 MYOT CAV3 MPZ B4GALNT1 MSTO1 MFN2 TPM3 SPG11 DCAF8 SLC5A7 KIF1A GARS1 POLG DNM2 SDHB RAB7A KDM5C COASY HK1 TCAP HSPB1 COL13A1 YY1 ZC4H2 AGL DYSF AFG3L2 FXN LRP12 GNE SLC39A13 DCTN1 MORC2 GAN MME KIF5A CCT5 RYR1 IGHMBP2 APTX RAI1 COA7 GBA2 FLNC GJB1 ABHD12 MTMR2 BICD2 ATL1 KIF1C LDB3 ADSS1 JPH1 PLOD3 MYH14 PRPS1 SPTBN4 SDHD ZFYVE26 CPT1C REEP1 ALS2 PDK3 MYO9A MED25 CUL4B TFG MATR3 SDHAF1 AGRN SNAP25 SDHA FGD4 HARS1 KLC2 ATXN2 ZBTB20 VCP MPV17 TBCE INF2 YARS1 DOK7 VPS13A ASAH1 ATAD3A DMPK SPART IBA57 CEP126 TYMP NDRG1 SLC25A1 PEX10 CHP1 CPLANE1 SPAST NDUFA9 ATP7A LITAF KIF1B CHAT HINT1 FLRT1 ANG SLC18A3 SBF2 SOX10 SETX SLC52A3 SQSTM1 MT-TE SIGMAR1 STUB1 PRX HSPB8 NGLY1 ACTA1 ATXN1 FBLN5 C12orf65 SYT2 MRE11 SLC25A21 ANO5 HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS SCN4A KCNE3 KCNJ18 CRYAB DES CACNA1S GABRA3 HP_DIFFICULTY_STANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_STANDING SMS TFG TBCE CYP2R1 ATP2B3 MYOT DYSF TK2 VDR FAR1 KY GRM1 SLC34A3 CYP27B1 GPAA1 HP_GENERALIZED_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYOTROPHY TARDBP DARS2 SGCD TRIP4 SLC52A2 CHCHD10 HNRNPA1 MYOD1 COL6A1 NAGA NEB MYH7 COL6A3 TK2 YARS2 DNAJC19 POMT1 COL6A2 SELENON TBK1 KBTBD13 VCP MUSK TPM3 PGAP1 TPM2 TTN PNPLA6 ACADSB SQSTM1 GPR35 MST1 PNPLA2 PEX5 BIN1 FUS POLG PUS1 DOK7 ACTA1 LEMD3 LAMP2 SLC18A3 MYPN DNA2 SCYL1 RYR1 MGME1 PYROXD1 KLHL41 ALDH18A1 SPEG SCO2 COL12A1 TCF4 POLR3A RBM28 SPTBN4 VAMP1 BAG3 HNRNPA2B1 RAPSN GMPPB LMNA SLC16A2 C9orf72 NUP88 LMNB2 HP_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS TRIM32 GMPPB OAT CFL2 POMK CHCHD10 VAMP1 HNRNPA1 MTAP COL6A2 TTN POMGNT2 FKRP FHL1 NARS2 PLEKHG5 GDAP1 SMN1 ALG2 SMN2 TRAPPC11 DNM2 NEB NEFL TOP3A REEP1 PNPLA8 RRM2B TK2 INPP5K COQ8A LIPE CHRNB1 SYNE2 SYNE1 FUS MYOT DMXL2 BICD2 POMGNT1 ANO5 MYPN DNA2 MYF6 TRPV4 MFN2 FLNC TPM3 CHRNA1 TPM2 LAMA2 GFPT1 VAPB RYR1 TRDN AGRN AK9 LMNA SLC5A7 SPEG COLQ DAG1 MORC2 SDHB VMA21 POGLUT1 GAN SGCD SCN4A SGCB RAPSN BSCL2 HK1 TCAP COL13A1 PABPN1 MUSK SELENON CHRNE COL6A3 CAPN3 TWNK MYH14 DYSF COL6A1 POLG LRP12 SQSTM1 MYH7 DMD PLEC MAP3K20 PNPLA2 BIN1 DYNC1H1 CRPPA FKTN DOK7 LAMP2 POLG2 ORAI1 FLAD1 SGCG KY FOS MICU1 ABHD5 MTMR2 POMT2 LDB3 ACTA1 DGUOK ADSS1 AGPAT2 JPH1 CNBP PPARG CAVIN1 SDHD ALG14 OPA1 HNRNPA2B1 C9orf72 MSTO1 TARDBP MYO9A CRYAB SDHAF1 SGCA SNAP25 SDHA RBCK1 EMD CACNA1S VCP DPAGT1 MT-TN TBK1 TMEM43 BVES ATP7B POMT1 COL12A1 PYGM DPM3 CASQ1 PRKACA NEFH MT-TL2 MT-ATP6 STIM1 ASAH1 DMPK CHKB BTNL2 MT-TL1 SLC25A1 ACADM LRP4 MYH2 DNAJB6 COL9A3 CHRND GAA MTMR14 KCNE3 CHAT LARGE1 LTBP4 CAV1 DES SLC18A3 SYT2 SLC52A3 MT-TE PIGN IGHMBP2 TNXB KCNJ18 HLA-DRB1 TFG PYROXD1 GATM LAMB2 CPT1C SLC25A4 FBXO38 SLC25A21 FXR1 GABRA3 HP_CALF_MUSCLE_PSEUDOHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY TRIM32 CRPPA SGCB PPARG CAV3 POMGNT1 POMT2 SGCG POMT1 SGCA DAG1 GMPPB MYH7 DMD ANO5 POMK FKRP HP_EXERCISE_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS PGAM2 CAV3 PYGL PYGM LAMP2 PFKM HINT1 PGK1 SLC16A1 HP_SKELETAL_MUSCLE_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_HYPERTROPHY SNX14 SLC26A4 SHOX PLIN1 PIK3CA CCDC47 LIMK1 ARID1A SCN4A POMGNT2 FKRP AFF4 FOXG1 CRPPA PMP22 MT-TE GPC3 SETBP1 DNM2 ELN SGCA GMPPB CLCN1 ATRX MED13L ATP6V1B2 KCNH1 LIMS2 HSPG2 TBCK TSHR POMGNT1 ANO5 MYF6 LAMA2 IFT140 SELENON LIPE GPR101 FIBP MAN2B1 SNIP1 SGCD HRAS CIZ1 SGCB VPS33A BSCL2 TCAP NKX2-1 MT-TW UBE3A LMNA GPC4 HELLS INSR AIP DVL1 SMARCB1 PAX8 ROR2 PLAGL1 TTN AGA TRMU CAPN3 PIGW TSHB DYSF DAG1 PSMB8 TPM2 NKX2-5 MAP3K20 BIN1 ARSB DMD AR SDHC DNMT3B AMPD2 BAZ1B SGCG FOS HACD1 HYMAI GNPTAB POMT2 PLEC IGF2 ITGA7 PPARG WNT5A AGPAT2 DUOXA2 PEX1 GTF2IRD1 DVL3 CAVIN1 DPM3 CUL4B RFC2 KLLN GATA1 ACTA1 GTF2I TPO INPP5E TRAF3IP2 PQBP1 CHCHD10 FOXE1 KCNN3 POMT1 CLIP2 KCNMA1 FKTN POMK SLC5A5 FUCA1 MPZ CDCA7 SMAD4 EHMT1 CAV3 DUOX2 ACTB ZBTB24 FRG1 RNF125 HEXB SRY THRA IDS SEC23B POP1 RYR1 ZEB2 AKT1 MYL2 GAA IYD CIDEC TG MTMR14 PRPS1 POU1F1 KCNQ1OT1 TBL2 SDHB SLC25A1 LARGE1 LTBP4 PIK3C2A CAV1 MSTN POLR3A IL6ST FHL1 CDKN1C USF3 PTEN SMARCA4 PIGS KCNA1 KCNQ1 TPM3 IDUA FTO TRHR ABCC9 PRKAG2 ERLIN2 SDHD FDX2 HP_MUSCLE_FIBER_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_NECROSIS POLG COL6A1 COL6A3 TWNK SGCG COL6A2 ACTA1 HP_MYOFIBRILLAR_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOFIBRILLAR_MYOPATHY DNAJB6 FHL1 TTN FLNC KLHL40 CFL2 PTEN MYOT BAG3 AKT1 LDB3 ACTA1 HP_NECK_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_FLEXOR_WEAKNESS TRIM32 CHRND SCN4A RAPSN ACTA1 RRM2B TPM2 TTN KLHL41 DOK7 DYSF COL13A1 SGCG MYOT CHRNE NEB DMPK CHCHD10 MUSK RNASEH1 AK9 DES KBTBD13 CNBP CHRNA1 GYG1 CFL2 LRP4 AGRN CHRNB1 LMOD3 HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY TRIM32 FRG1 SGCB TRPV4 VCP ACTB TPM3 FKRP DES GNE MYH7 HP_QUADRICEPS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_QUADRICEPS_MUSCLE_WEAKNESS TRIM32 SLC25A4 MFN2 TTN ADSS1 RRM2B TWNK POLG2 DYSF POLG HP_AUTOPHAGIC_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOPHAGIC_VACUOLES TNPO3 LRP12 CRYAB MYOT LDB3 ACTA1 HP_MITOCHONDRIAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_MYOPATHY MSTO1 POLG TWNK NDUFAF5 CAV3 MT-ND5 MT-TW MT-CYB NDUFAF1 MT-ND4 MT-TV MT-CO2 TIMMDC1 MT-CO1 MT-TF NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 MT-TL1 MT-ATP6 MT-ND3 MT-TK PNPLA8 TK2 YARS2 NDUFB3 MT-ND6 RRM2B NDUFA6 NDUFS6 NDUFB9 FOXRED1 MT-TC DNA2 POLG2 MT-ND1 NDUFS2 PUS1 NDUFV1 NDUFAF4 MT-TS2 MT-TQ NDUFS3 ISCU NDUFV2 NDUFS4 DGUOK TYMP MT-CO3 NDUFA1 SLC25A4 NDUFS7 NDUFS8 NDUFA11 AGK NDUFAF3 TMEM126B NDUFB11 MT-TT NDUFS1 NUBPL FDX2 HP_EXERCISE_INDUCED_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYALGIA TRIM32 RRM2B BSCL2 MATR3 ANO5 STIM1 MTMR14 MYF6 FOS FLNC AMPD1 RYR1 PGK1 RNASEH1 DNM2 AGPAT2 CAV1 PYGM ACADVL PHKA1 DYSF AMPD3 PGAM2 LMNA CAV3 PPARG CAVIN1 ACADM BIN1 HP_MYOCLONIC_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SPASMS MOCS1 SMARCB1 BAP1 TXN2 SUFU GNAS PDGFB PIK3CA TERT BRAT1 AKT1 SMO STX16 SLC1A4 SMARCE1 MOCS2 NF2 MT-ATP6 INPP5E TRAF7 HP_CONGENITAL_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_DYSTROPHY POMT2 FKRP POMT1 FKTN POMGNT1 CHKB COL6A3 SELENON LARGE1 COL12A1 TTN MYH7 COL6A1 GMPPB LAMA2 CRPPA ITGA7 COL6A2 POMK LMNA HP_GENETIC_ANTICIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENETIC_ANTICIPATION SPAST ATXN10 ATXN3 TERT ATXN1 ATN1 CACNA1A ATXN7 ATXN2 ALDH18A1 HP_SPORADIC http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPORADIC MAPT NLGN4X SPECC1L SHANK3 CTBP1 MAP2K1 GJA5 HNF1B TUBB4A OGG1 GATA1 ADH1C SNCAIP KIT ATXN2 EP300 ADA2 FLNB NSD2 TSC2 SIX3 KRAS GNAS-AS1 PDGFRA SIN3A SNRPN PWAR1 TBP ALX3 NLGN3 ZBTB20 ATXN8OS IRF6 HLA-DRB1 RPS14 TSC1 NSD1 FGFRL1 GNAS CHD7 EHMT1 HRAS MEF2C TINF2 CACNA1S PIK3CA NRAS STK11 GNAQ KANSL1 NR4A2 KCNJ18 FOXG1 AKT1 PTDSS1 CPLX1 GLI2 CREBBP PAFAH1B1 NPAP1 MKRN3 NFIA ACAT2 COQ2 STX16 VHL PCSK1 ALDH18A1 SEMA3E WDR1 NIPBL LMNB2 SNORD116-1 UBE3A FGFR3 KIF1B RB1 SDHB HNF1A RNF139 GJA8 NFIX MECP2 IGF2 SUMO1 FLCN PWRN1 JAK2 DRD5 NDN FGFR1 MYC BCL10 GBA CDON TOE1 RAI1 MTOR SKI HERC2 MAGEL2 TSHR LETM1 RPS6KA3 SNORD115-1 SDHC GLUD2 PSEN1 HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS TRIM32 CHRND SCN4A SGCB RAPSN DOK7 DGUOK SMCHD1 COL13A1 ANO5 FKRP CHRNE FLNC VCP DMPK MUSK PLEC AK9 TTN GNE HNRNPDL MYOT DYSF CHRNA1 TNPO3 LRP4 AGRN MT-TE PNPLA2 CHRNB1 RYR1 DNAJB6 DPM3 HP_INCREASED_MUSCLE_FATIGUABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_FATIGUABILITY TRAPPC11 RRM2B SCN4A DMGDH GATA4 KCNJ18 CAV3 STIM1 NR2F2 AMPD1 SLC16A1 DBH AMPD3 GATA6 KCNE3 PGK1 SERPINA6 CACNA1S GABRA3 CRELD1 HP_EPISODIC_FLACCID_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_FLACCID_WEAKNESS SCN4A CACNA1S KCNE3 KCNJ18 GABRA3 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 MYH7 ACTA1 RYR1 SELENON TPM3 TPM2 HP_SKELETAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MYOPATHY HADHA SDHB SDHD HADHB SDHA MT-TE SDHAF1 TAZ HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE PTF1A CAV1 PLIN1 BSCL2 INSR ERCC6 LMNA SLC25A24 TOP3A IGF1R FH RBM28 ERCC8 FBN1 SKI ATP6V1E1 ZMPSTE24 PPARG TGFB1 POLR3A NAA10 AGPAT2 SOX18 SLC2A2 HP_CALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCINOSIS GNAS ZMPSTE24 AGXT GEMIN4 LBR SAMD9 LMNA GALNT3 CASR HP_UTERUS_DIDELPHYS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UTERUS_DIDELPHYS WDR34 DYNC2H1 HOXA13 IFT80 GATA3 WDR60 INTU AXIN1 WDR35 HP_BRUXISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUXISM FOXG1 CERT1 MECP2 SHANK3 NTNG2 KIF15 PGAP3 GABBR2 NRXN1 HTT SHROOM4 CNTNAP2 DHX30 CDKL5 ANK3 HP_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEVUS MC1R NRAS PIK3CA BAP1 LIMK1 RFC2 CDKN2A TSC2 KLLN FGFR1 TERT RAF1 TSC1 PTEN RBM8A GTF2I XPA KRAS IFNG A2ML1 FGFR2 ERCC3 MED25 ACD SMC3 RRAS2 ELN ERCC5 DVL1 RASA2 PTPN11 PDE4D CLIP2 CDK4 HRAS TNFRSF11A FZD2 BRAF ERF CYP26C1 CDC42 PCGF2 CHRNA7 XPC PUF60 RBM28 AKT1 DIS3L2 DVL3 COL5A1 CDH3 ROR2 GNAQ TEK SEC23B IGF2 MITF SOS1 TRIM37 HPS1 NXN LZTR1 SMARCAL1 HDAC8 ASXL1 MRAS DDB2 MGMT WNT5A TYR NEK9 COL1A1 PTCH2 ARL6IP6 ASXL2 KCNQ1OT1 CHRNG TBL2 SDHB EED SUFU PRKAR1A LEMD3 CYP1B1 SLC25A24 ERCC2 H1-4 CDKN1C KLHL7 USF3 CDK10 LYST COL5A2 RIT1 FKBP10 CDKN2B SDHC BAZ1B FGFR3 TERF2IP KCNQ1 CBL PUS3 POT1 RRAS TNFRSF11B PTCH1 SUZ12 ERCC4 MPL GTF2IRD1 SOS2 LTBP2 MYOC TP63 RASA1 COL3A1 SDHD MYH3 HP_PSORIASIFORM_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSORIASIFORM_DERMATITIS CACNA1G TP63 IRF2BP2 HLA-C HLA-DQB1 DSG1 NFKB2 MSMO1 CTLA4 FLI1 CARD14 TTC7A HLA-DRB1 HLA-B IL36RN FOXP3 LIG4 AP1S3 SLC29A3 GATA3 HP_PERIODIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_PARALYSIS SCN4A CA2 KCNJ18 KCNJ2 CACNA1S FAH CDH23 KCNE3 ABCB6 SLC4A1 GABRA3 HP_STAGE_5_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE PAX2 NPHP4 JAG1 WT1 TMEM231 SDCCAG8 IQCB1 BICC1 COL4A4 TMEM67 TSC2 FAN1 NPHP1 TBC1D8B SGPL1 MAGI2 GANAB NPHP3 CEP83 MUC1 NEK8 GLIS2 TRPC6 TTC21B COL4A3 DCDC2 INF2 AHI1 PKD2 CEP164 CFHR5 DNAJB11 CTNS INVS IFT140 CD151 LAGE3 AGXT TMEM126B PKD1 NUP85 RAD51C TP53RK CEP290 MMUT SLC7A7 FN1 ANLN DSTYK GSN XPNPEP3 COQ8B IFT43 NUP205 WDR19 NUP107 TSC1 NUP93 DZIP1L LAMB2 NOD2 SPRY2 NPHS2 TRAF3IP1 PLCE1 DGKE MAPKBP1 APOL1 UMOD NUP133 APRT LZTFL1 BNC2 HNF1B COL4A5 ACTN4 TPRKB OSGEP HP_PILI_TORTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_TORTI NECTIN1 CDH3 PEX6 BCS1L HR DSG4 LMNA ST14 WRN KRT85 NECTIN4 HEPHL1 PEX1 HP_EXCESSIVE_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_SALIVATION MRE11 ALS2 PTCHD1 ACSL4 CERT1 GPT2 CLCN4 FOXG1 FTSJ1 POLR3B ATP7B POLR3A USP27X GABRG2 UPF3B EXTL3 KIF15 SRPX2 GRIN2A PDE10A HERC1 PTS AP4M1 NRXN1 RAB39B HCFC1 AP4S1 FBLN1 MECP2 ARHGEF6 PRPS1 VAC14 GNS PCGF2 ALG13 AP4B1 SLC9A6 CXorf56 AGTR2 IQSEC2 AP4E1 SETD5 VPS13A PAK3 ATP1A3 STXBP1 SLC12A5 HLA-B ARX BCORL1 ZNF41 IL1RAPL1 GABRA1 ZEB2 ATP6AP2 FRMPD4 TH PCDH19 ZNF711 ZBTB11 ZC4H2 GCH1 MED12 DLG3 UBE3A CNTNAP2 SPART SYP STRADA SCN9A TANGO2 GDI1 NTNG2 DMD IKZF1 SLC9A7 CNKSR2 GFM2 RPS6KA3 MID2 ATRX DEAF1 PMP22 EIF2S3 TSPAN7 SCN1A USP9X FOXP2 QDPR DLAT SCN2A TUBB2B SCN1B GABBR2 ZNF81 SLC16A2 HP_EUNUCHOID_HABITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EUNUCHOID_HABITUS NSMF TACR3 WDR11 KISS1 FGF17 CYP19A1 TAC3 PROKR2 ANOS1 TUBB4A CHD7 GNRH1 HS6ST1 FGFR1 ESR2 KISS1R DUSP6 PROK2 GNRHR SPRY4 FGF8 HP_DECREASED_CSF_HOMOVANILLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CSF_HOMOVANILLIC_ACID PNPO TH DDC GCH1 NGLY1 HP_MINICORE_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINICORE_MYOPATHY MYH7 RYR1 CFL2 TRIP4 SELENON FXR1 HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN PSEN2 APP GNE TOMM40 SORL1 TREM2 DYSF ABCA7 PSEN1 HP_SHORT_MIDDLE_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_TOE TRPV4 FGFR3 FGFR2 FGFR1 HOXD13 HP_LIMB_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_ATROPHY TRIM32 SGCB DGUOK ANO5 FKRP HNRNPA1 POMT2 TRPV4 VCP TPM3 FKTN POMT1 LMNA TRAPPC11 EMD CRPPA ACTA1 FRG1 FHL1 CAPN3 TMEM43 SGCA DES GNE HNRNPDL DAG1 ACTB MORC2 SYNE2 MYH7 SYNE1 HP_NEMALINE_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEMALINE_BODIES ACTA1 LMOD3 TPM2 KLHL41 CFL2 MYO18B RYR1 NEB KLHL40 MYPN NEFL TPM3 PYROXD1 KBTBD13 TNNT1 NDUFB3 HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION MSTO1 RRM2B SCO1 TWNK NDUFAF5 POLG COX6B1 TK2 MT-CO2 MT-CO1 MT-TF MT-ND2 COX14 MT-TW TACO1 MT-TE MT-TN PNPLA8 MT-ND3 YARS2 PET100 NDUFA6 MT-TC COA3 PNPT1 MT-TL2 MT-ATP6 NDUFS2 PUS1 NDUFV1 MT-TS2 MT-TK MT-TL1 NDUFS3 POLG2 NDUFV2 NDUFS4 MT-ND1 COX10 TYMP MT-CO3 NDUFA1 NDUFA11 AGK NDUFB11 NDUFS1 CAV3 MT-ND5 MT-CYB NDUFAF1 MT-ND4 COA8 MT-TV TIMMDC1 NDUFAF8 NDUFB10 NDUFAF2 COX8A TRMU NDUFB3 MT-ND6 NDUFS6 NDUFB9 FOXRED1 COX20 DNA2 ETHE1 NDUFAF4 MT-TQ ISCU DGUOK SLC25A4 FARS2 NDUFS7 NDUFS8 NDUFAF3 TMEM126B MT-TT NUBPL FDX2 HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE GMPPB CHRND SCN4A RAPSN KLHL41 ACTA1 RYR1 NEB MTMR14 TNNT1 MYH7 DNM2 MUSK ALG2 CHRNE COL6A3 DPAGT1 POMT1 KBTBD13 TPM3 TPM2 TTN CFL2 COL6A2 BIN1 CHRNB1 LMOD3 KCNA1 DOK7 PNPT1 COL13A1 KLHL40 MYPN MYF6 GFPT1 AK9 SPEG COLQ LAMB2 CHRNA1 COL6A1 LRP4 AGRN ALG14 FXR1 HP_RIMMED_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIMMED_VACUOLES TTN SIL1 NEFH MATR3 TCAP HNRNPA1 VCP TIA1 EMD ACTA1 FHL1 DNAJB6 LMNA PABPN1 TMEM43 GNE HNRNPDL TNPO3 LRP12 SQSTM1 MYH7 MAP3K20 PNPLA2 HNRNPA2B1 SYNE2 DPM3 ADSS1 SYNE1 HP_NEONATAL_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_DEATH FAM20C FGFR3 GLE1 FOXF1 HSPG2 FLNB PIP5K1C NDUFB11 PKHD1 ETFDH INTU ETFB GBA GLI3 DSP ETFA MBTPS2 GALT LBR HP_PHENOTYPIC_VARIABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHENOTYPIC_VARIABILITY PROKR2 MN1 GLE1 TENM4 GRHPR PIGH GJA5 PRRT2 FKRP CPOX BACH2 CHRNA4 MT-ND1 POT1 MT-CO1 KRT81 CLCN2 LMNA KCNK3 POLG NEFL SPTAN1 NUBPL KIF11 LRSAM1 SIX3 DEPDC5 ERBB3 CLTC ASAH1 NDUFAF1 MT-ATP6 FGF23 EGR2 ADA2 TH MRPL44 MT-TC KMT2B BICD2 TRNT1 F10 MPZ RBM12 SUFU GLI2 CACNB4 ADD3 TRPV4 DHDDS MT-TK MT-TL1 PMP22 CHRNA1 TPM2 LAMA2 PROC GFPT1 PTCH1 KANSL1 MCM2 F7 POLG2 EPHB4 AGRN MEGF10 LRRK2 KIF1A PAFAH1B1 MT-CO3 CTLA4 TAF13 CDH23 SLC2A1 AGK NDUFAF6 RARS2 DSTYK PITX1 ANXA11 EYA1 DLD TBCD PTEN TLR3 REEP1 SFXN4 GCH1 DHFR F2 SLC17A8 PFKM WWOX CD3G GYG1 COL6A3 CNKSR2 HAVCR2 GNAS HGSNAT SERAC1 MNX1 VCP PIGN MARS1 LRP5 PURA MT-CYB COL4A2 GUCY2D CA5A LAMB1 NPHS2 FBXO11 COL4A1 MET SELENON GJB6 FLCN MAPKBP1 MT-TQ PTPRO PAX2 CDON GMPPB FGFR2 TNFRSF11A NEXMIF FAM126A QDPR HNRNPDL NF2 CSPP1 TUBB2B OPA1 FGF12 PSAP SLC52A2 DLST TUBB4A GTPBP2 TK2 SGPL1 METTL23 GRIN2B PRKCG MT-TW PEX2 FIG4 GABRB2 EP300 SLC5A2 PRDM8 SDHB KIF14 NDUFS8 MT-ND5 STIM1 CAV1 CACNA2D2 ORAI1 B2M SFTPC INAVA NPRL3 KCNQ5 HCN1 CHRNE TWIST1 STAT1 PTCH2 ZBTB18 PLAA FKTN SLC25A46 STAT2 ARL6 APC MT-TS2 PDHX GTPBP3 SIX1 TBCK SHH MSH6 MFN2 CREBBP VWF DNM1L ATP1A2 TM4SF20 CFD COL6A1 DNAJC21 MICAL1 ANTXR2 CD3E KIF5A RPS29 TPM3 MYH2 DPM1 MT-ND6 CIC DLX5 TOR1A PEX10 KCNMA1 CHRNA7 ACTA1 RYR1 CD164 ALAS2 CYP2U1 NUP107 RTEL1 GJA8 TBC1D24 PARN NAA10 PBX1 DAG1 TERC GABRG2 PIGS PDGFB BBS9 NIPA1 ANO5 ALX4 IARS1 EIF2S3 KRT83 MT-ND2 DCHS1 SNORD118 NLRP3 GATA1 GP6 ACTN4 FBXO38 TUBB6 BMPR2 PRCC TRIT1 NLRP12 TERT PTCHD1 AARS1 ATP6V1A TTN ATXN10 GATA5 SURF1 MAPK8IP3 C19orf12 RORB SGCA VPS13D COQ8A LZTR1 NEUROD2 SLC7A9 STX1B MATR3 HARS1 MT-ND4 GREB1L TUBG1 CILK1 SMARCB1 LAMA1 RELN RAD51 DCX SGCE KRT14 SPAST VMA21 CACNA1S BCORL1 GLI3 SH3KBP1 FOXE3 HDAC8 RNASEH2B MYOT GPAA1 MT-TV RARS1 KIF1B CRELD1 SLC30A10 KIF5C FARS2 FGFR1 COL6A2 SCN1A PIGA SCN4A NFKB2 SPR NR5A1 ZIC3 PRPF8 MED13L ERCC5 BRCA2 EXOSC3 KRIT1 MITF ATP6AP1 KRT86 THAP1 GJB1 ATL1 PPCS SCN9A DCC EXOSC2 PKD2 EBP RHOBTB2 MRPS7 CFC1 PRPS1 GRIN2D MYH7 MT-ND4L RMND1 PUM1 ERCC1 ATP1A3 SAMHD1 TMEM126A SLC12A5 TBK1 NRIP1 JAG1 FOXP3 GRIN2A COPA SCN2A PROK2 WNT10B GANAB FH MT-CO2 MT-TF RBCK1 VAMP1 DEGS1 GJC2 EHHADH GM2A SLC10A2 IKZF1 CTNNB1 MECR MPDZ ROGDI WDR26 DARS2 FMR1 LGI1 NPRL2 NDUFA1 KRT5 GFI1B SF3B4 TMEM106B NEFH STXBP1 IBA57 CLPX KLF13 SMARCE1 TICAM1 VEGFC TSEN15 GRIA4 TNFRSF11B SCNN1A BRPF1 TUBB3 SLC3A1 SMAD9 SPG21 PAX3 MPC1 SAMD9L RANBP2 PRPF31 TUBB2A NFKB1 STING1 GUCY1A1 PAK3 ELOVL4 DZIP1L ATP6AP2 SLC5A7 DES GDF6 CD70 DDX41 CANT1 SETX CHRNA2 AFG3L2 CACNA1A HSD11B2 ANO3 PRX KCNA1 CD27 SLC25A26 DPAGT1 C12orf65 SLX4 MBTPS2 IFIH1 BCS1L MRE11 PNPLA2 SCN1B POMT1 CFAP53 POMT2 KLHL41 PITX2 PHACTR1 CIT HP_DEATH_IN_CHILDHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_CHILDHOOD SLC25A22 PSAP RAB27A RNASEH2A TSEN54 HYOU1 UBR1 PEX5 ERCC6 SLC17A5 HMGCL TSFM GNPTAB ERCC2 ACTL6B RNASEH2C ABCB11 STT3B NFIX ABAT FKRP ATP7A OGDH SCYL2 RARS2 HP_STILLBIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STILLBIRTH SLC35D1 PHGDH LMNA GBA CALCRL TRIP11 CENPF COL11A1 NSDHL ZMPSTE24 PTH1R FLNA SLC26A2 OSTM1 NEK8 FLNB COL2A1 HYLS1 ALPL MUSK GDF5 ESCO2 RNU4ATAC LBR HP_VARIABLE_EXPRESSIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARIABLE_EXPRESSIVITY GLE1 TENM4 GRHPR PIGH PTCHD1 AARS1 ATP6V1A TTN FKRP BACH2 SURF1 MT-CO1 KRT81 CLCN2 LMNA MAPK8IP3 POLG NEFL SPTAN1 NUBPL KIF11 C19orf12 SGCA SIX3 CLTC ASAH1 VPS13D NDUFAF1 EGR2 COQ8A ADA2 TH MRPL44 MT-TC CAV1 LZTR1 BICD2 TRNT1 NEUROD2 F10 SLC7A9 STX1B MPZ MATR3 GLI2 HARS1 ADD3 ANO5 DHDDS MT-TK MT-TL1 PMP22 CHRNA1 TPM2 LAMA2 PROC TUBG1 GFPT1 PTCH1 KANSL1 MCM2 F7 POLG2 SMARCB1 AGRN LAMA1 MEGF10 KIF1A PAFAH1B1 MT-CO3 KRT14 SPAST BCORL1 TAF13 SLC2A1 AGK NDUFAF6 RARS2 GLI3 SH3KBP1 EYA1 FOXE3 DLD FIG4 TBCD HDAC8 RNASEH2B REEP1 MT-CYB SFXN4 MYOT GPAA1 GCH1 MT-TV DHFR F2 SLC17A8 RARS1 PFKM SLC30A10 WWOX CD3G GYG1 COL6A3 CNKSR2 KIF5C HAVCR2 FARS2 NUP107 SHH GNAS HGSNAT SERAC1 VCP PIGN MARS1 COL6A2 SCN1A PURA PIGA SCN4A NFKB2 COL4A2 CA5A SPR LAMB1 TRPV4 NPHS2 MFN2 FBXO11 ERCC5 COL4A1 EXOSC3 SELENON GJB6 MITF MAPKBP1 ATP6AP1 MT-TQ PTPRO KRT86 PAX2 CDON ATL1 GMPPB FGFR2 PPCS SCN9A EXOSC2 TNFRSF11A FAM126A QDPR EBP RHOBTB2 MRPS7 NF2 PRPS1 MYH7 CSPP1 RMND1 TUBB2B ERCC1 FGF12 SAMHD1 TMEM126A NRIP1 FOXP3 PSAP GRIN2A SLC52A2 SCN2A TUBB4A GANAB GTPBP2 TK2 SGPL1 MT-CO2 METTL23 MT-TF RBCK1 GRIN2B VAMP1 MT-TW DEGS1 PEX2 GABRB2 EHHADH EP300 SLC5A2 GM2A PRDM8 SLC10A2 MECR KIF14 MPDZ NDUFS8 STIM1 ROGDI WDR26 CACNA2D2 DARS2 ORAI1 B2M KCNQ5 NDUFA1 KRT5 GFI1B CHRNE TWIST1 SF3B4 TMEM106B NEFH ZBTB18 PLAA STXBP1 IBA57 FKTN CLPX SLC25A46 STAT2 ARL6 APC EPHB4 MT-TS2 PDHX GTPBP3 SIX1 TBCK VEGFC TSEN15 GRIA4 TNFRSF11B SCNN1A CREBBP GATA1 DNM1L BRPF1 TUBB3 CFD COL6A1 SLC3A1 ANTXR2 CD3E RPS29 TPM3 SPG21 MYH2 PAX3 MPC1 SAMD9L VWF DPM1 CIC DLX5 TUBB2A PEX10 KCNMA1 MT-ND5 NFKB1 STING1 ACTA1 RYR1 CD164 ALAS2 CYP2U1 GUCY1A1 RTEL1 PAK3 DZIP1L ATP6AP2 TBC1D24 SLC5A7 GDF6 CD70 CANT1 PTCH2 NAA10 SETX PBX1 DAG1 AFG3L2 HSD11B2 PIGS PRX KCNA1 BBS9 NIPA1 ALX4 CD27 SLC25A26 DPAGT1 C12orf65 IARS1 EIF2S3 KRT83 SNORD118 SLX4 MBTPS2 NLRP3 IFIH1 GP6 BCS1L MT-ND6 ACTN4 MRE11 PNPLA2 FBXO38 POMT1 CFAP53 TUBB6 POMT2 SUFU KLHL41 PITX2 TRIT1 MT-ND1 PHACTR1 CIT PARN HP_INCOMPLETE_PENETRANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPLETE_PENETRANCE TTN TBK1 PROKR2 MN1 NRIP1 JAG1 TERT TENM4 GRIN2A COPA PROK2 GJA5 WNT10B DLST PRRT2 ATXN10 GATA5 FH CPOX TRPV4 CHRNA4 MT-ND1 POT1 CLCN2 PRKCG KCNK3 GJC2 KIF11 IKZF1 RORB CTNNB1 LRSAM1 SDHB SIX3 MT-ND5 DEPDC5 CAV1 ERBB3 SFTPC MT-ATP6 INAVA NPRL3 FGF23 HCN1 FMR1 LGI1 NPRL2 KMT2B LZTR1 STAT1 PTCH2 RBM12 SUFU GLI2 CACNB4 MT-ND4 GREB1L KLF13 SMARCE1 RTEL1 TICAM1 CILK1 SIX1 SHH EPHB4 SMARCB1 MSH6 LRRK2 RELN RAD51 VWF DCX ATP1A2 SGCE TM4SF20 VMA21 CACNA1S MT-CO3 SLC2A1 MICAL1 SMAD9 CTLA4 CDH23 KIF5A RPS29 RANBP2 DSTYK PITX1 MT-ND6 ANXA11 PRPF31 DLX5 EYA1 FOXE3 TOR1A PTEN TLR3 NF2 CHRNA7 KIF1B CRELD1 ELOVL4 GJA8 MNX1 FGFR1 LRP5 MT-CYB DDX41 PARN SCN4A COL4A2 GUCY2D CHRNA2 NR5A1 CACNA1A PRPF8 TERC GABRG2 MFN2 MED13L COL4A1 BRCA2 MET ANO3 PDGFB KRIT1 FLCN THAP1 GJB1 PAX2 MT-ND2 ATL1 DCHS1 PTCH1 DCC PKD2 NEXMIF IFIH1 ACTN4 HNRNPDL CFC1 SCN1B MT-ND4L BMPR2 PUM1 OPA1 ATP1A3 PRCC NLRP12 SLC12A5 HP_SHOULDER_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_DISLOCATION ARFGEF2 CHST3 FLNA ARF1 DYM B3GAT3 NEDD4L COL1A2 MAP1B TMTC3 AEBP1 NGLY1 ERMARD HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY CTBP1 KCNH1 MGP PCNT ERCC6 NF2 NEK1 IFT172 TRPS1 GDF5 EIF2AK3 COMP FLNB NSD2 RPS6KA3 SRCAP KIF15 PRKAR1A ATR GPX4 GNPAT COG4 EXT1 RMRP SALL1 BGN FGFR3 FGFRL1 IHH RAB23 NPR2 RUNX2 IFT52 BMPR1B ATRX ERCC8 FLNA IFT140 CPLX1 COL2A1 EVC EVC2 NKX3-2 IFIH1 LETM1 TRIP11 DYM HP_ABSENT_FOREARM_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOREARM_BONE FANCC SALL4 FGFR3 SF3B4 FANCA SEMA3E GLI3 CHD7 FLNB CHN1 FANCD2 MAFB FANCE LMBR1 ESCO2 WNT7A RECQL4 RBM8A TRIO FGFR2 FANCB FGF10 TBX5 TBX3 ZIC3 DONSON HP_APLASIA_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_ULNA TBX5 LMBR1 TBX3 WNT7A ESCO2 HP_ABNORMALITY_OF_THE_RADIAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RADIAL_HEAD SHOX MAP3K7 NOG GPC6 GSC NIPBL EXTL3 DONSON ASXL1 FZD2 IFITM5 TBX15 FLNA ARID1B SCARF2 KIF22 SKI EP300 COL27A1 BMP1 RNU4ATAC CREBBP NOTCH2 PRKAR1A LMX1B ATR EXOC6B B3GALT6 CD96 ERCC1 CHRNG HP_ABSENT_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAND DLX6 RBPJ TBX3 DOCK6 REV3L LMBR1 DLL4 ARHGAP31 PLXND1 TP63 NOTCH1 EPS15L1 DLX5 BTRC EOGT IKBKG SEM1 WNT10B HP_SCLEROSIS_OF_HAND_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_HAND_BONE LMNA ERCC6 TRPS1 EIF2AK3 NGLY1 EBP GJA1 ERCC8 HP_MITTEN_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITTEN_DEFORMITY COL7A1 LAMB3 ITGB4 COL17A1 DSP LAMA3 MMP1 LAMC2 HP_MACRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODACTYLY PIK3CA PTEN AIP GPR101 AKT1 HP_ABNORMAL_2ND_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY MYCN TWIST1 BHLHA9 IHH OPA3 GDF5 BMP2 INTU RUNX2 MED12 BMPR1B GPC4 HOXA13 HOXD13 TGDS FLNA FGFR2 GPC3 COL2A1 KIF15 CHSY1 IRX5 MEIS2 MED25 HP_MIDLINE_DEFECT_OF_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDLINE_DEFECT_OF_THE_NOSE FREM1 ZSWIM6 FRAS1 PTCH1 LONP1 ALX3 TBX4 HYLS1 GRIP1 EFNB1 ALX4 NF1 ALX1 FREM2 HP_ABNORMAL_3RD_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY FGFR2 FGFR3 TWIST1 GDF5 IHH COL2A1 MED25 FGF10 GLI3 CHSY1 HP_ABNORMAL_4TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY KCNJ11 GDF5 IHH ABCC8 COL2A1 GLI3 HP_ABNORMAL_5TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY TWIST1 KMT2D DYNC2LI1 GLI3 TMEM231 LIMK1 PIGH KCNAB2 WDR35 PAFAH1B1 WDPCP FANCL ARID1B PTEN DDX59 LMBR1 AMMECR1 GPC3 LIG4 ARL6 RRAS2 ELN CC2D2A BRIP1 CEP55 ATR ATRX PORCN IFT80 HOXD13 IFT122 GJA1 KMT2A ORC6 RUNX2 GDF5 DHPS CHRNA7 SOX11 EMG1 TRIM32 TELO2 ROR2 HMGA2 IFT172 KCNK4 COL2A1 GATA4 SHANK3 RAI1 TFAP2A FGFR3 USP7 FGD1 SRCAP RPGRIP1 WDR4 BBS2 MRAS SLX4 NEK1 ESCO2 GPC4 L1CAM SUFU BCOR DVL1 C2CD3 BBS4 SNRPB AFF2 RAD21 CEP152 BUB3 CEP290 AKT3 RPGRIP1L CKAP2L FANCA RERE KDM6B KDM1A KIF7 MAPK1 MASP1 B9D1 IQSEC2 SKI RAB23 MKKS XRCC2 UBR1 TMEM67 WDR19 B3GLCT NKX2-5 OFD1 EXT2 NTNG1 ZFPM2 WNT7A NOG FGFR2 LEMD3 UBE2T PIK3R2 GATA6 WNT5A SMC1A GTF2IRD1 KPTN SOS2 TMEM216 STAG1 FANCB MEGF8 CCND2 TTC21B RNF216 CEP57 FANCM RFC2 ERCC4 TBX1 CCNQ BBS10 XRCC4 EP300 DEAF1 BBS9 CUL7 CLIP2 PDE6D ALX3 GMNN MYCN BMPR1B TCF20 BMP2 ACVR1 LZTFL1 AUTS2 BCR BRCA2 AKT1 DVL3 NSUN2 RAC1 CREBBP TRRAP CITED2 WDR34 BRCA1 BUB1B SOS1 CSPP1 DYM TCTN2 SOX4 GATA5 RAB18 C8orf37 MKS1 TRPS1 MAD2L2 PLK4 PPP2R1A KDM6A SH3PXD2B VPS13B RNU4ATAC ARID1A RAF1 DYNC2H1 TCTN3 SMARCE1 CDC45 CHSY1 EFNB1 CDC6 POLA1 BUB1 SATB2 BRAT1 PIGS RPL10 IHH RIT1 JAG1 TRAIP TFAP2B ARID2 HDAC4 BMP4 EVC TMEM107 EVC2 RB1 SLC26A2 HDAC8 PALB2 MEIS2 ARMC9 HOXA13 CEP120 TTC8 LIFR CCDC8 FANCE DHCR7 GDF1 YWHAE SMARCC2 SC5D KAT6B STAG2 RBM8A RFWD3 A2ML1 MAPK8IP3 SETBP1 SMARCD1 CIBAR1 CCDC28B DPAGT1 WIPI2 AMER1 NIPBL PRDM16 FZD2 BBS5 PUF60 KIAA0825 WDR60 BHLHA9 CANT1 MBTPS2 SEMA3E UBE3B FANCF IFT140 HOXA11 TBX3 CHD7 TRIP13 HYLS1 RSPRY1 TMCO1 PIEZO2 SMC3 MACROH2A1 SHOX NXN TP63 BLM FANCG DONSON TBX15 MLXIPL CDKL5 RBBP8 SMARCB1 FLT4 SALL1 MECP2 NUP37 FANCI KCNJ2 IGF1 PIGN GABBR2 FANCD2 ORC1 LMX1B NRAS SPECC1L SLC2A10 OBSL1 PCNT NAA10 BAZ1B UBE3A SMARCA4 NIN CBL SHH SMOC1 SMO TBX4 FGF10 REV3L NONO MECOM TRAPPC9 BBS12 PNPLA6 NKX2-6 DPF2 CENPE MAF RAD51 LBR DACT1 MBD5 GATA1 PLXND1 INPP5E IFT27 EIF4A3 GTF2I SDCCAG8 IFT52 RASA2 STXBP1 KIF15 ZNF141 B9D2 ATRIP BRAF CHST3 CRKL PIGL BBS7 SLC9A7 KLF13 IFT43 CENPJ RAD51C PQBP1 PACS2 KRAS GLI2 EBP ORC4 PITX1 TBC1D24 BBS1 CD96 XYLT1 SIM1 FLII TRPV4 SETD5 LZTR1 PACS1 PTPN11 C12orf57 COL11A1 FANCC TRIO TBL2 TGDS FLNA CTCF HIC1 NPHP1 FLNB IGF2 GJA5 GABRD PTH1R BBIP1 TGFBR1 CDT1 RRAS ZDHHC9 MAN1B1 CUL4B ZC4H2 PLAA HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY MYCN BHLHA9 GDF5 GJA1 SOX4 BMP2 TFAP2B ARID2 RUNX2 SMARCC2 SMARCA4 GATA1 BMPR1B NIN SOX11 ARID1B PUF60 SMARCB1 HOXD13 DVL1 ARID1A ROR2 SMARCD1 WNT5A COL2A1 RBBP8 SMARCE1 NOG KIF15 IGF2 ZNF141 DVL3 DPF2 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 MYCN BHLHA9 GDF5 BMP2 TFAP2B RUNX2 GATA1 BMPR1B GJA1 NIN PUF60 HOXD13 DVL1 ROR2 WNT5A RBBP8 NOG IGF2 DVL3 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 ARID1A SMARCD1 GJA1 SOX4 COL2A1 SMARCE1 ARID2 IGF2 SMARCC2 SMARCA4 TFAP2B SOX11 ARID1B DPF2 SMARCB1 HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES XYLT1 CANT1 SETD2 SLC10A7 SLC35D1 B3GALT6 PTH1R HP_DUPLICATION_OF_HAND_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_HAND_BONES DYNC2LI1 CTBP1 GLI3 DHCR7 TMEM231 TMEM237 SC5D IFT172 WDPCP TCTN3 SMO UBE2T DDX59 IFT80 LMBR1 SALL4 GPC3 ARL6 SETBP1 CIBAR1 CC2D2A TFAP2A CCDC28B GDF5 CEP55 TBX5 PORCN CPLANE1 KIF7 TMEM138 HOXD13 ZIC3 RAI1 SALL1 FGFRL1 BBS5 CHD7 KIAA0825 WDR60 WDR35 NPHP1 CSPP1 FLNA MBTPS2 RREB1 EVC HOXA13 GJB6 B9D1 TRIM32 IFT140 PAH TBX3 GJA1 MKKS HYLS1 TMEM216 TCTN2 TMCO1 FAM149B1 FANCC FGFR3 BLM SEMA3E RPGRIP1 MKS1 INPP5E TMEM107 BBS2 TMEM67 KIAA0556 FLI1 NEK1 ESCO2 GPC4 PIK3CA SUFU DVL1 C2CD3 LETM1 ROR2 BBS4 PPP2R3C NUP107 RPGRIP1L FANCB CEP290 AKT3 ARVCF ARL3 IQSEC2 RAB23 TCTN1 CHN1 NAA10 EVC2 CEP120 ABCA12 WDR19 BMPR1B OFD1 BCOR SHH BHLHA9 WNT7A FGFR2 SMOC1 EBP PIK3R2 AHI1 ARL13B WNT5A FGF10 GP1BB CEP104 ACTG1 DVL3 UFD1 BBS12 LEMD3 KIAA0586 MEGF8 ZNF423 LBR CCND2 TTC21B DYNC2H1 SH2B1 EFTUD2 RBM10 DACT1 FANCD2 FLNB FANCE CEP41 IFT27 BBS10 SDCCAG8 NSD2 ARMC9 ACOX1 EXTL3 DEAF1 BBS9 ZNF141 B9D2 PDE6D ALX3 COMT BBS7 TWIST1 JMJD1C MAFB KIAA0753 LZTFL1 GLI1 HIRA NELFA CPLX1 GLI2 TBX1 WDR34 BBS1 CD96 WASHC5 FLII PHF8 CCDC22 C8orf37 PNPLA6 CHSY1 EFNB1 CANT1 PIBF1 FANCA PTEN TFAP2B BBIP1 INTU TGFBR1 SEC24C BMP4 RPS19 COL2A1 ACTB PLAA PUF60 TTC8 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND NOG NXN BMPR1B SMOC1 IHH FGF16 ESCO2 TFAP2B MAP3K7 GDF5 RECQL4 FLNA LRP4 FGFR3 SALL4 PAX3 FLNB RBM8A CHSY1 POR APC B3GALT6 FBLN1 DYNC2LI1 TCF12 MYH3 BHLHA9 EVC2 HOXD13 GLI1 TWIST1 EVC HOXA13 PTDSS1 ROR2 FGFR2 COL11A2 PITX1 NONO ZIC1 ATP7A FGF9 MACROH2A1 HP_SHORT_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALM IGF1R TBCE FGFR1 MBD5 INPP5K SIL1 KRAS GATA1 GPC4 IFT80 FGFR3 LTBP3 FBN1 DVL1 GDF5 SIN3A FGF9 SNRPN PWAR1 PIGL RNU4ATAC CRKL B3GLCT FZD2 SMAD4 CDKL5 WDR35 BHLHA9 COL11A2 FLNA SMARCA2 BCR TRPS1 DVL3 EXOC6B YY1AP1 NPAP1 MKRN3 HDAC6 LMNA CRLF1 WDR34 RSPRY1 PCYT1A KAT6B RAB3GAP2 SNIP1 B3GALT6 ORC1 CAMK2G SIM1 DPM1 FGD1 COMP RMRP SNORD116-1 WNT5A ANTXR2 COL11A1 MAP3K7 MAPRE2 TRIP11 GPX4 TRIO WDR60 KDM5C INPPL1 ROR2 PPP2R3C DYNC2H1 KCNJ2 CHSY1 PIK3R1 PRKAR1A PWRN1 NDN EVC MAPK1 PTH1R BGN PTDSS1 IHH COG4 HDAC4 COL2A1 CCBE1 NOG RAI1 ATP7A CUL4B HERC2 ADAMTSL2 MAGEL2 EVC2 COL9A2 RECQL4 TBL1XR1 GPC3 SNORD115-1 PUF60 FGFR2 WDR81 HP_NARROW_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALM UBE3B HERC2 NPAP1 SNORD116-1 MKRN3 MAGEL2 SNRPN PWAR1 PWRN1 AUTS2 KANSL1 SNORD115-1 NDN VPS13B SMS HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA TTC37 SKIV2L SLCO1B1 IL1RN LIMK1 RFC2 LBR BAZ1B SLCO1B3 IL1B CISD2 LRBA ARID1B GTF2I FOXP3 FAS FASLG TBL2 PLA2G4A ELN WFS1 CASP10 PRKCD RIPK1 GTF2IRD1 ERGIC1 CLIP2 ABCC2 RASGRP1 CTLA4 KRAS CDH1 AIRE HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM CCDC47 CTBP1 CASR BCS1L LIMK1 LBR C15orf41 PSAP CPOX EPB42 LYZ IL36RN STK11 ATP11C KCNN4 COG7 ARL6 ELN APOA1 SPTB PRKAR1A TJP2 ABCC2 GPR35 UGT1A1 MED25 EPB41 FGFRL1 CLCA4 SAA1 PEX1 ABCB4 PIEZO1 RHAG TTC7A HBG2 ATP7A PHKG2 PEX6 SPINK1 ATP8B1 PALLD TCF4 AP1B1 CDKN2A MPV17 GCLC PRSS2 HSD3B7 PKLR PALB2 PEX10 DHFR DZIP1L OCLN PFKM CASK CLDN1 IL21R ACADVL TREX1 SMAD4 CYP7A1 TBX19 RPGRIP1L ARVCF BPGM FCGR2A ARSA MST1 PEX12 CFTR TGFB1 NBAS FOXF1 VPS33B F5 AP1S1 UBR1 NR1H4 HFE B2M RNASEH2B TRAF3IP1 RFXAP GLRX5 HSD17B4 ANK1 GTF2IRD1 UFD1 SLC2A1 LETM1 TMEM216 SLC26A4 CDKN2C NPC1 TSHR RFXANK PEX14 SPIB PRF1 RFC2 GPC1 POU1F1 IL2RG LHX4 HBB PKHD1 DGUOK NSD2 GALK1 CLIP2 COG6 COMT SCNN1G DCDC2 SLC5A5 JMJD1C GLIS3 PEX26 RAB27A PEX5 TFAM DMPK DUOX2 HIRA BRCA1 ADAR NELFA IFIH1 SLC25A13 TBX1 CTRC CPLX1 ITCH PRSS1 PCSK1 STX1A WDR35 CCDC115 HOXD13 RNF43 G6PD FECH MKS1 BRCA2 ETFDH PEX2 HMGCL SMPD1 TMEM67 GATA6 IL12RB1 ABCG8 SLC4A1 ADAMTS13 RNASEH2C PEX13 HK1 MMEL1 JAK2 CIITA POMC CEP290 FGA PYGL IRF5 USP9X INTU SPECC1L SEC24C TRMU PEX3 PEPD HADHB ALG8 HNF1B IFT122 SON CDKN2B SCNN1B ASAH1 DHCR7 KMT2E NPHP3 NOTCH2 AMACR SC5D IFT172 PEX19 PEX16 SCNN1A PARS2 CCDC28B HADHA RNU4ATAC HNF4A CPA1 B3GLCT CDKN1B INSR NEUROG3 SCARB2 ACVRL1 UROS DCTN4 HESX1 ALDOB RREB1 CD40LG IFT140 ABCB11 BLVRA SAMHD1 AKR1D1 LMNA CC2D2A LHX3 MEN1 TTC37 FARSB NPC2 KRAS SP110 CYP27A1 ACADL TPI1 ZIC3 NKX2-5 PNPLA2 SPTA1 BAZ1B CYP7B1 ABCD3 SLCO1B3 ATP6AP1 KRT8 ETFA TNPO3 EARS2 ERCC4 NEK8 GYPC GCGR GBA IER3IP1 SHPK CDKN1A DUOXA2 GP1BB PAX8 JAG1 PROP1 GNE PEX11B ETFB INPP5E GTF2I TPO CEP83 FLI1 GDF2 ANKS6 TSHB ATP7B POLG ESCO2 SLC30A10 SLCO1B1 AIRE POLG2 SEC23B UQCRFS1 ALAS2 POU2AF1 COX4I2 RFX5 FH TP53 VIPAS39 PTPN3 IL12A SERPINA1 LPL LONP1 MECP2 IYD PRPS1 TG BBS1 GFM1 TBL2 CTCF GPI TMPRSS6 KRT18 RFX6 ADK GALT LIPA PHKA2 RNASEH2A CDAN1 LYST DPAGT1 EIF2AK3 ENG TRHR GALE TNFSF15 ALDOA FUCA1 HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL LIMK1 GLRA1 MPLKIP NEK9 KIF7 STS GPHN PAFAH1B1 FANCL ARID1B MAPRE2 ARX OCRL GPC3 FGFR1 RRAS2 ELN NXN BRIP1 MED13L PORCN MYLK MED25 CHRNG TTC37 CTNNB1 MMP14 CHD7 HSPG2 PRDM5 WDR35 COL11A2 TTC7A NSDHL AEBP1 ATP7A DGCR8 PIEZO2 PHGDH ROR2 GJA1 MCOLN1 NLRP3 SPECC1L SNIP1 SHANK3 TBX1 SLC25A22 RNF113A SETBP1 MTOR SMCHD1 SEMA3E PIGQ FGD1 XRCC4 CHST14 AMHR2 CEP120 ESS2 KCNH1 LRP2 MRAS SLX4 HNRNPA1 FLI1 FLNB MAN2B1 GPC4 FRAS1 GLB1 SUFU DVL1 FANCB PAX8 PLAGL1 LDHD COL2A1 MEGF8 SKI NFIX TSHB RPGRIP1L ARVCF SLC26A2 C1R FANCA TRIP11 KLHL7 DGCR6 MAPK1 MASP1 DSE ARSB BRF1 CHUK RAB23 FIBP XRCC2 B3GLCT TENT5A HYMAI GNPTAB IGF2 FGFR2 BMP1 UBE2T PTCH1 SUZ12 WNT5A LTBP4 GTF2IRD1 ADAMTS2 UFD1 SOS2 MYH11 MYH3 EFEMP2 PIGY FANCM RFC2 ERCC4 DMXL2 SLC6A5 NOTCH3 POU1F1 LHX4 RAF1 RNF13 TWIST2 DNMT3A MEIS2 SMAD3 DIS3L2 LFNG PTPN11 SIN3A MMP2 CLIP2 COMT AP1S2 AR ACTG2 PIGP SLC5A5 DACT1 FUCA1 SKIV2L JMJD1C GLIS3 SMAD4 TMEM70 ERCC3 TP63 NEU1 ATP6V0A2 FLNA DUOX2 AUTS2 HIRA BCR BRCA2 TGFBR2 ZBTB24 DVL3 FBN1 PTDSS1 TGFBR1 RAC1 IDS TRRAP GNAO1 COL1A2 NFIA WDR34 PIK3R1 BRCA1 CHRM3 SOS1 ATRX EZH2 IDUA EHMT1 CDH11 HOXD13 WNT3 TARS1 MKS1 B3GAT3 FREM1 MAD2L2 MED12 SLC25A24 FKBP14 PPP2R1A COL5A1 SH3PXD2B GATA6 KCNQ1OT1 APC BCS1L GLRB RMRP RIN2 DYNC2H1 KCNA1 BRAF DGCR2 PIEZO1 ELOVL4 CDKL5 STRA6 NAA10 CLDN19 CDKN1C AGA PIGS RPL10 COL5A2 RIT1 CLCN4 USP9X TUBB HDAC4 CAVIN1 SEC24C BSCL2 COL1A1 NEUROD2 KCNQ1 FTO KDM5B GDF1 IFT122 ISL1 SATB2 PALB2 ABCC9 RIPPLY2 FANCE DHCR7 MSX1 GPC6 YWHAE STXBP1 IFT80 RFWD3 KRAS MANBA A2ML1 HES7 TGFB3 TGFB2 NAT8L GUSB SRCAP PYCR1 SLC10A7 AMER1 GNE GTF2H5 GLI3 SALL1 INSR FZD2 PLOD1 ZEB1 TBCK GMNN FBLN5 CANT1 COLEC11 PLOD2 HESX1 RREB1 DDRGK1 FANCF ADNP LONP1 NECTIN1 LBR PAH TBX3 MESP2 CC2D2A SCN2A LHX3 EOGT TMCO1 GTF2E2 NALCN ALDH18A1 CASK FARSB LMOD1 FANCG GALNS ACTA2 NIPBL SEMA5A TMEM107 TMEM67 P3H1 C1S SLC2A10 HELLS PRKG1 MLXIPL WDR60 COL3A1 FREM2 H19 EED PPP2R3C FANCI BCOR TRAF7 PIGN FANCD2 MBTPS2 NRAS MECP2 IKBKG ZIC3 NKX2-5 RIPK4 DNMT3B BCL11B FOXE3 BAZ1B CCBE1 CBL TRIM8 ASXL1 BHLHA9 NPHP3 NOTCH1 SHPK DUOXA2 GP1BB RIC1 MAF RAD51 NOTCH2 CHST3 ATP6V1A PROP1 FAH INPP5E GTF2I TPO BMPER ATAD1 MFAP5 RASA2 HYLS1 BRAT1 LOX IRX5 CRKL POGZ ANTXR1 IFT81 SF3B4 CDCA7 COLEC10 AMH CDC42 RAD51C PUF60 CTNND2 THRA KCNJ8 GRIP1 ELMO2 ERCC2 PLD1 DLL3 CD96 ALG9 ABCD4 NSD1 XYLT1 DPH1 OFD1 WASHC5 COL11A1 LZTR1 CCDC22 PACS1 PNKP IYD TG FANCC PPP2CA SERPINH1 SIK1 TBL2 TGDS IRF6 CTCF HIC1 TSHR AGPAT2 WDR19 ATP6V1E1 EFNB1 CBS UPB1 RRAS MAT2A CUL4B TRHR SCN1B UBA1 POLA1 RPS6KA3 PITX2 HP_FUNCTIONAL_MOTOR_DEFICIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_MOTOR_DEFICIT SMS GLE1 DYNC1H1 DNAJC13 GLRA1 POMK NEB NKX6-2 FKRP PSAP ERLIN1 GBA SLC13A5 NTN1 PLEKHG5 TIA1 KLHL9 DNM2 NUBPL CNKSR2 SACS SLC1A2 PRKAR1A COASY RRM2B WASHC5 MED25 TYMP BICD2 CHRND LRP4 MAPT SCN8A SYNJ1 HCCS DNAL4 DNA2 WWOX MT-ND4 CHRNA1 TPM2 LAMA2 GFPT1 TRAK1 HSPB3 ATP2B3 RYR1 POLG2 AGRN AK9 MEGF10 SLC5A7 TGM6 NUP62 WARS1 GIGYF2 ALG14 COLQ DAG1 MT-TQ MORC2 AKT1 SDHB GAN AGK CYP27B1 GABRA2 HK1 ATP6AP2 SCN4A COQ2 ELOVL5 POLG COL13A1 COL6A1 MT-TW PFKM CACNA1B CHCHD10 MT-CO3 GYG1 CHRNE DNAJB6 COX8A TREX1 DES CAPN3 DYSF LRP12 ARSA CRPPA ATP5F1D TRAPPC11 FA2H LAMP2 ARHGEF2 SLC25A4 ORAI1 SGCG SLC18A3 GALC KY GRM1 MICU1 PUS3 RNASEH2B GMPPB PLEC ADSS1 SUFU EEF1A2 KCNB1 TAF1 MT-TH SDHD NF2 TBC1D23 CACNA1A HACE1 MRE11 DARS2 MYO9A TFG RARS1 GPT2 SDHAF1 SGCA GABRG2 NOL3 FAR1 SMO TPP1 RSPH4A COX6B1 SELENOI ACTA1 SNAP25 LRRK2 GPHN COX14 FHL1 PEX2 GABRB2 DPAGT1 CLTC RNASEH1 BAP1 BVES NDUFS8 SLC25A19 CHRNB1 NECAP1 PYGM SZT2 KLC2 C19orf12 PIK3R5 COA3 AARS1 GJC2 TRMT5 STIM1 UBA5 CALR VDR NOP56 MGME1 SCYL1 AP4B1 ERLIN2 CDKL5 ADAR IFIH1 YWHAG MT-CO1 MFN2 TMEM126B RAB11B MT-ND5 PGAM2 SLC25A1 PARS2 JPH3 ARSI MEN1 HSPB1 UNC93B1 MT-ND6 MT-CYB KCNA2 JAK2 MTMR14 DCC ASPA FKTN SPART HINT1 MT-ATP6 BCS1L POMT1 KCNC3 RNASEH2C TGFB1 TK2 MTPAP TTN NKX2-1 SBF2 CCDC88C MT-CO2 FGF12 COX20 DHDDS ADCY5 USP9X KCND3 CAVIN1 ANO5 GDAP2 ATL1 EIF2S3 EIF4G1 PYCR2 GJB1 PMP2 HCN1 SYT2 HADHB LAMB2 RTN2 CWF19L1 FBXO38 MT-TL1 SYNGAP1 FGF14 CCN6 DNM1 SCO1 SH3TC2 VAMP1 PGM1 SCN3A STRADA SURF1 DHTKD1 DMD ACTL6B ALG2 TACO1 COL6A2 MT-TF TOP3A REEP1 PDE10A HERC1 HADHA COX7B VPS13D ATP6V1A TDP2 PET100 COQ8A MYOT GYS1 B4GALNT1 CYP2R1 MSTO1 POMGNT1 MYPN PIK3CA MYF6 FLNC MT-ND1 KLHL41 FKBP14 INTS1 AP4M1 SPEG GRID2 NTRK2 SAMHD1 COL12A1 COX10 NACC1 C1QBP PHKA1 TNPO3 VMA21 RSPRY1 SGCD ATRX PGK1 CIZ1 SGCB RSPH9 RAPSN FIG4 FARSB TCAP MARCHF6 COA8 MUSK RAD51 TAZ PEX6 TWNK DDHD1 ATP13A2 TTBK2 SPG21 MAP3K20 PNPLA2 BIN1 CDH23 GTPBP3 DOK7 WDR48 PDGFB FLAD1 SETX MT-TS2 CYFIP2 NDUFS4 TLR3 ABHD5 VPS35 CAPN1 TRAF3 ISCU KIF1C TRAF7 GOSR2 SLC19A3 MT-TK MT-TN SCO2 ACAD9 AP3B2 PANK2 STXBP1 NUS1 GPAA1 CPT1C PDK3 CRYAB MATR3 TICAM1 SNCA TERT GRIN2D YARS2 CDK8 SDHA VCP ATP7B KBTBD13 SLC25A32 TPM3 PGAP1 SLC30A10 PRX MYH7 AP4S1 CASQ1 NEFH TBCE SLC52A2 MPL ARV1 ASAH1 SMARCB1 IBA57 HPCA TBK1 MECP2 CHP1 SPAST PPP3CA COL6A3 AP4E1 PRNP ARL6IP1 CHAT FLRT1 SQSTM1 MT-TE ENO3 GBA2 PUS1 STUB1 RNU12 AIP RNASEH2A LDHA GABRA5 POMT2 DAB1 C12orf65 PYROXD1 SMARCE1 NDUFB11 SLC30A9 SLC34A3 BAG3 TET2 FDX2 HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY CFL2 NEB TOMM40 FHL1 MT-CO1 SLC22A5 TIA1 TREM2 CRPPA DNM2 PABPN1 GMPPB RRM2B SYNE2 TYMP MT-TC PHKB TRIM32 PNPT1 MT-TK TRPV4 MT-ATP8 MT-TL1 MT-ND4 CHRNA1 TPM2 GFPT1 RYR1 AK9 LMNA SLC5A7 TNNT1 COLQ CASQ1 CCDC174 POLG DAG1 MT-TQ SYNE1 PSEN2 SCN4A BSCL2 CAV3 COL13A1 COL6A1 CCDC78 MYH7 HNRNPA1 PFKM CHCHD10 FKRP MT-CO3 CHRNE DNAJB6 COL6A3 COX8A LRP12 TRAPPC11 SELENON LAMA2 DYNC1H1 SGCG FOS OPA1 PPARG TOR1AIP1 DGUOK AGPAT2 MICU1 GNE HNRNPDL MT-ND5 TWNK MT-TH ALG14 HNRNPA2B1 DYSF DPM3 MYO9A MT-RNR1 AGRN ACTA1 COX6B1 TK2 SNAP25 CRYAB COX14 MT-TW ORAI1 DPAGT1 AIFM1 TMEM43 POMGNT1 BVES SPG7 POMT1 PYGM SQSTM1 EMD POMK CACNA1S SIL1 COA3 MT-TL2 GFER STIM1 MT-TS2 CARS2 MT-TF SLC25A1 LRP4 FKTN ALG2 TPM3 MYH2 CAPN3 MT-ND6 SDHD POMT2 MTMR14 APP BCS1L MT-ND3 CAV1 MYPN CPT2 SLC18A3 CHRND TTN MT-CO2 ASCC1 KCNA1 COX20 TNXB KCNJ18 MGME1 SYT2 LAMB2 SLC25A4 MT-ND1 KLHL41 SCO1 TRIP4 VAMP1 MYO18B TACO1 MT-TE COL6A2 MT-TP PET100 COQ8A CHRNB1 MYOT LMOD3 GYS1 MATR3 MSTO1 COQ2 MYF6 FLNC SPEG COL12A1 COX10 TNPO3 MT-TI GLI3 SGCB RAPSN TCAP MT-CYB COA8 MT-TV MUSK MT-ATP6 TRMU MYH14 SDHAF1 MAP3K20 PNPLA2 BIN1 DOK7 POLG2 ABHD5 CHAT HACD1 ISCU ITGA7 EARS2 MT-TN CNBP NDUFB3 CAVIN1 ADSS1 ANO5 NEFL SORL1 KBTBD13 SLC25A32 PSEN1 VCP NEFH KLHL40 VPS13A LDB3 GYG1 IFIH1 SDHA MYL2 ABCA7 KCNE3 MT-ND2 AFG3L2 ENO3 SLC25A26 PYROXD1 SARS2 STAC3 FXR1 GABRA3 LARGE1 HP_INVOLUNTARY_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVOLUNTARY_MOVEMENTS PDGFRB NLGN4X MICOS13 CTBP1 CAMTA1 SLC6A8 THOC2 GLRA1 CHD2 LMAN2L CLN6 TSC2 PRRT2 NKX6-2 FMR1 PMP22 KCNAB2 ERLIN1 TOMM40 GBA SLC13A5 REEP2 SAMD12 TSFM SCN8A XPA NF1 SPTBN2 NDUFV1 ATP1A3 MAG OSTM1 PLPBP PINK1 SACS CRAT TBP NLGN3 SLC2A1 ADSL BOLA3 WASHC5 UCHL1 TRAK1 CHMP1A ATM OPA3 GNA11 SNCA RAB3GAP2 WWOX DHDDS MT-ND4 PDGFB ATP2B3 GABRD NR4A2 ATP7A KCNQ3 IREB2 ANOS1 VPS13A B9D1 NUP62 TNNT1 GIGYF2 WDR45 AKT1 ARX TTPA PNPLA6 RNF113A ZC3H14 RAI1 HIBCH ATP6AP2 PIGQ COQ2 TOR1A INPP5E GATAD2B MARCHF6 HSPB1 GNAS GPR88 REEP1 TCTN2 MECP2 DHFR CUX2 GABRG2 MAPT CACNA1B POMGNT1 ALDH18A1 TRAPPC12 KIF5A TIMM50 TREX1 AFF2 SEPSECS ERCC2 PURA FLCN VPS13C MT-CYB EXOSC9 ARL3 SCARB2 VRK1 SQSTM1 ANO3 PLP1 WFS1 TRAPPC11 GLA SLC39A14 FA2H LYST TRAPPC9 RFC1 TCTN1 TSEN54 COA7 TBR1 FLRT3 HDC SLC25A11 ARSA SLC9A1 CHD3 TAF1 KISS1R CILK1 TPP1 MED23 OFD1 TOE1 ABHD12 ALKBH8 USP8 OCRL ZSWIM6 CHCHD2 DCAF17 ARL13B SUFU NEXMIF FAM126A SCN1B MICU1 NHLRC1 EEF1A2 KCNB1 MYH14 CEP104 UBQLN2 GTF2IRD1 MT-ND5 LARP7 LETM1 DDC LIAS NF2 KIAA0586 ZFYVE26 HNRNPA2B1 CTC1 MRE11 GAMT TARDBP RAC1 RARS1 SDHD SPTAN1 TRIO PLA2G6 TTC19 NTRK2 TUBB4A CLN5 POLG ERCC6 SPG11 SMO DLST SELENOI MACF1 SLC9A6 HNF1A GRIN2B SNCAIP LRRK2 GPHN PPP2R5D DCC PEX2 ATP7B EP300 POU3F4 AIFM1 CLTC PRDM8 ARMC9 KIF1A BAP1 EXTL3 DEAF1 ITPA POMT1 CACNA2D2 CHMP2B CLIP2 DRD3 GABRA1 HESX1 FUS CACNB4 PIGP ZFYVE27 DNMT1 MT-ATP6 ERCC3 FRRS1L UBA5 ATP13A2 SOX5 NOP56 NEU1 TSHR KDM5B GNAO1 ADAR BCR CEP41 MRPS34 IFIH1 CARS2 UQCRQ GCK DNAJC5 PGAP1 CPLX1 CEP126 CREBBP ATN1 MAN1B1 ACAT2 PARS2 IQSEC1 RAB39B DNAJC6 IRF2BPL MDH2 MT-ND6 DNMT3A RAB18 PROKR2 MT-ND4L NAGA HMGCL KCNK9 APP ERCC4 PRKRA CHAMP1 SPART HINT1 SCN9A MT-TL1 GLRB KCNC3 TANGO2 ADAMTS13 KCNA1 PRDX1 KCNMA1 MT-ND3 MPZ CCT5 SMN1 NKX2-1 NAA10 HECW2 BRAT1 PIGN PIGT FGF12 PIBF1 NDUFAF3 NIPA1 MME SCN2A CCDC88C TIMM8A FTL CRBN KCNA2 PAH MT-ND2 CYB5R3 EIF4G1 PDHA1 GJB1 MMUT MT-TF FLVCR1 AMACR ADA2 NR2F1 DLAT RTN2 CWF19L1 FBXO38 POLR3A FGF14 HSPD1 PDE6D ASAH1 DCTN1 ITPR1 C9orf72 DNM1 SH3TC2 CHCHD10 GRM1 RTTN SCN3A PSAP SC5D SDHB STXBP1 CHD1 NDUFB8 SLC1A4 VHL TCTN3 GBA2 NGLY1 PRICKLE1 BEAN1 UBTF NAT8L PGAP3 PDE10A GRIN1 QRICH1 SYNJ1 ABCB6 ATXN8OS COQ8A GCDH TUBB3 KCNT1 PRDM16 VAMP2 MEF2C SLC18A2 MSTO1 MT-CO3 PIK3CA PPP2R2B CLCN2 MFN2 MT-ND1 GALC HS6ST1 SLC45A1 AP4M1 CNPY3 JPH3 NAXD PODXL NACC1 PC PNPT1 BCORL1 HTRA2 ADPRS CACNA1A SLC12A6 NFASC UBE3A PPT1 POLR3B TAT AFG3L2 SLC30A10 DAB1 MED17 SIK1 PEX6 FXN VPS37A TPI1 MMACHC SPR TCIRG1 SDHAF1 HCFC1 FBXO7 GLDC TWNK KYNU POLG2 GCH1 TMEM240 BAZ1B SETX MT-TS2 CYFIP2 TBC1D24 THAP1 VPS35 CTLA4 ATXN3 HTT TRAF7 MKS1 C12orf4 RHOBTB2 NONO CACNA1G GRN CLPB EPRS1 TYROBP GLYCTK GRIK2 PDK3 TREM2 CERT1 TNIK BSCL2 ATAD1 SLC6A1 VWA3B SLC25A22 TBK1 PTEN MECR FMN2 MEN1 KIF15 MT-TP TACR3 UROC1 PSEN1 BRAF CRKL COL6A3 CACNA1E ZNHIT3 PTS SLC33A1 AP4S1 YEATS2 TMEM106B PIGV PIGO SLC52A2 SMC1A SCP2 RLIM KIF1C PIGL PUF60 SMARCB1 CERS1 PGM3 DUSP6 PRNP TMEM67 SLC25A15 CNTNAP2 HPCA CD28 CASR FLII HIKESHI PNKP TKT ATXN2 B3GALNT2 NDST1 PRPS1 NSMF DOCK7 ABCA7 DDOST NDUFA9 MGAT2 TSC1 SLC20A2 ELOVL4 OPTN SLC6A17 PIGW VCP MT-TK SNRPN TBCD FOXRED1 MTFMT SCN1A GALT ATXN7 MARS1 RNU12 ATRX RNASEH2A NDUFA13 POLR1C MT-TV GABRA5 DPAGT1 C12orf65 ATXN1 AHI1 KCNJ10 CNTN2 SMARCE1 MAOA CACNA1D CUL4B GM2A TXN2 AMT HYLS1 SLC6A3 RNASET2 PNPLA2 KCND3 AARS1 NDE1 ATP1A2 UBA1 SLC30A9 CTH FEZF1 SLC16A2 OXR1 SMS PIGY DNAJC13 TENM4 TMEM231 LIMK1 MPLKIP SUCLA2 EFHC1 FOXG1 CDKL5 SUOX DRD2 MYO5A SLC6A9 NUS1 ELN LRSAM1 CNKSR2 NADK2 GSS AARS2 SLC1A2 GMPPB PDYN RRM2B UGT1A1 PRPH ADGRV1 TH FGF8 KMT2B FGFRL1 BICD2 TBX1 EPM2A C19orf12 CP JRK ELP2 DYRK1A KCTD17 VAPB SLC17A5 ERCC8 GUF1 TGM6 PHGDH HMGA2 HSD17B10 WDR26 MT-TQ MORC2 NDUFS2 DENND5A GABRA2 SCO2 KMT2A CLIP1 PSEN2 ELOVL5 TSEN2 SFXN4 UFC1 ATCAY GJC2 SDHA NTNG2 RPGRIP1L FBXO31 GFM2 MED25 PRUNE1 MAPK1 APTX MBOAT7 LRPPRC IQSEC2 SKI TNFSF11 TRAPPC6B AR KCTD7 CCDC141 CPLANE1 EXT2 DHX30 CLCN7 TSPYL1 RNASEH2B STAMBP LEMD3 GLRX5 FARS2 PFN1 CLN3 QDPR ASXL3 STUB1 KPTN MT-TH NAGS TBC1D23 TMEM237 SGCE VLDLR DARS2 GPT2 AP5Z1 RET RFC2 DMXL2 SLC6A5 NOL3 GTPBP2 XPR1 MMAA MYORG MOCS2 GABRB2 FOXP1 SOX10 NDUFAF5 NSD2 FRMPD4 PNKD GRIA3 LNPK NECAP1 SCN4A SZT2 POMK ST3GAL5 TMEM70 CEP120 SLC25A46 MTM1 TTI2 PRSS12 SCYL1 AP4B1 AUTS2 ANO10 SOD1 SYT1 YWHAG CSTB MT-CO1 RAB11B PRODH RSRC1 ST3GAL3 RYR1 DPM1 PCDH19 TARS1 POMT2 PEX10 STX16 SMPD1 FGF17 RNASEH2C TK2 MTPAP MT-TW TUSC3 SLC52A3 PPP1R15B AIMP1 MT-CO2 TSEN34 KCNJ18 CLCN4 HPRT1 ADCY5 EDC3 HDAC4 ATL1 NEUROD2 SLC5A7 PCBD1 SNORD118 HCN1 SPRY4 SLC25A4 SLC25A21 SYNGAP1 PGAP2 SLITRK1 ABCB7 FKRP TNFRSF1B ACO2 SHANK3 NEFH PTCHD1 ADRA2B HNRNPA1 SLC46A1 SDHAF2 ADH1C SLC25A13 FGFR1 CRADD ACTL6B PGK1 SMN2 RORB LINS1 SLC39A4 SURF1 VPS13D ATP6V1A GTF2H5 COG8 WDR11 CAV1 YY1 RFT1 CACNA1H KCNC1 NPHP1 CSPP1 CTDP1 WARS2 ZFR AUH SDHC FH SERPINI1 PLCB1 IL17RD SAMHD1 PIK3R5 ITM2B CA8 CC2D2A GGT1 GTF2E2 MT-TI AGTPBP1 PITX3 GCSH CASK CIZ1 XPNPEP3 NPC2 RERE DCPS NRXN1 MYOT GPAA1 KIAA0556 CLN8 KIF1B CAPN1 GRIN2A PIGC CYB5A UGDH STARD7 AP2M1 CYP7B1 SARS1 PRKCG EPAS1 ERCC5 PARK7 EXOSC3 CC2D1A AMPD2 KCNQ2 SNX10 NDP TRIM8 MOCS1 GOSR2 PNP PNPO AP3B2 PANK2 CTNND2 EZR PSAT1 RMND1 PUM1 SYNE1 ADNP PRKN NSUN2 MBD5 DYSF CCDC88A RPE65 TERT GRIN2D FAM149B1 TTR GTF2I SORL1 CACNA1S NUP214 PMPCA RORA POGZ NDUFA1 ADGRG1 KIF7 EHMT1 KIAA0753 ARV1 HNF4A PHACTR1 HERC2 HEXB GRIA4 CTSF LAMA1 ATXN10 VAMP1 KDM1A GABRB3 TMEM127 EBF3 PROK2 SAMD9L CYP27A1 SPAST PPP3CA AP4E1 FBXL4 HNMT HLA-DQB1 DNAJC19 METTL23 GUCY2D WASHC4 STX1B TBL2 NAXE TMEM216 OPA1 LMNB1 MAX IFRD1 SEMA3A TFG CDH23 PIGA CHD7 ZNF142 TECR MAPK10 SLC25A42 SPATA5 ERLIN2 AP1S2 FXR1 ARID2 GLUD2 LMNB2 GABRA3 WDR81 HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY IDUA LDB3 TAZ IL12A HLA-B LIMK1 RFC2 IL17F IL17RC RAF1 SLC22A5 GTF2I TBL2 MEFV ELN BRAF VCL C4A IL12A-AS1 UBAC2 PDGFRA MLX IL17RA PTPN11 NR2F2 PRKAR1A IL10 GATA6 CLIP2 IL12B MYH7 GJA5 ABCC6 STAT4 IL23R GATA4 ACTN2 ERAP1 MYL3 BAZ1B CSRP3 GLA ENPP1 CCR1 KLRC4 CLEC7A TLR4 TRAF3IP2 GTF2IRD1 SP110 FAS CRELD1 HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART CCDC39 DNAAF2 RSPH1 COL18A1 MSX1 SPAG1 FOXJ1 PRRX1 MCIDAS DNAH5 CEP41 ZNF423 GAS2L2 DNAH1 CCDC151 ANKS6 DNAL1 ARMC9 SRCAP TTC25 CEP55 B9D2 WDPCP CFAP221 ZMYND10 LRRC56 DYNC2LI1 DNAAF1 MYRF RPGR RSPH9 STK36 TP63 DNAH9 DNAAF5 CEP120 CC2D2A CSPP1 OFD1 RSPH4A INVS PQBP1 GLI1 NME8 ARL2BP GAS8 PIEZO2 EVC TTC12 B9D1 CCDC40 NECTIN1 DNAI2 CCDC65 TMEM67 CFAP298 TMEM216 CFAP300 LRRC6 DNAI1 DNAJB13 TCTN2 SPEF2 RPGRIP1 INPP5E TTC8 ZMPSTE24 KIAA0556 DNAAF4 OTX2 CRELD1 TGDS IRF6 ARMC4 MEGF8 SLC19A2 DNAAF3 BCOR CEP290 HES7 WT1 NODAL ARL3 DRC1 MMP21 NEK10 ZIC3 RSPH3 CCNO PIBF1 TCTN1 ACVR2B MKS1 EVC2 HYDIN UBR1 TMEM231 DNAAF6 CCDC114 DNAH11 AHI1 CCDC103 RPGRIP1L CPLANE1 TMEM107 NPHP3 PKD2 LZTFL1 ARL13B NEK8 GDF1 HYLS1 CFC1 LMNA CEP104 CFAP53 KIAA0586 TMEM237 HP_VENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ARRHYTHMIA ALG10B LDB3 KCNE2 SLMAP KCNJ2 KCNE1 TWNK KCNE3 CAV3 MT-CO2 DTNA KCNQ1 MT-CYB MT-CO1 MT-TF SCN5A IFNG SCN1B EMD CACNA1S KCNJ5 MT-TW RYR2 HCN4 TMEM43 SCN10A SCN3B KCNH2 KCNE5 CLCNKB CACNB2 RRM2B MT-ND1 MT-ND2 MRPS14 SYNE2 CACNA1C MT-TC TSC1 BMP2 MT-ATP6 MT-CO3 MT-TS2 MT-TK MT-TL1 MT-ND4 SLC25A20 TNNC1 LMNA TRDN TNNI3K TSC2 NOS1AP MYL2 CALM1 DSC2 MT-TQ MT-ND5 GYG1 NDUFS2 MYH7 MYBPC3 SYNE1 MT-ND6 TRPM4 JUP GAA RANGRF MT-ND4L CACNA2D1 PKP2 MT-TV PLN SNTA1 ABCC9 FHL1 ACADVL GPD1L PRKAG2 RYR1 TANGO2 DPP6 AKAP9 SCN4B NAA10 TCAP MTFMT CALM2 POLG KCND3 SCN2B SCNN1A GTPBP3 LAMP2 KCNJ18 POLG2 MYL3 DSP SEMA3A NDUFB11 CDH23 RAF1 ACTC1 ANK2 DSG2 SLC25A4 TGFB3 SLC12A3 MT-TH KCNJ8 GABRA3 HP_VENTRICULAR_PREEXCITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_PREEXCITATION MT-ND6 GAA MT-CYB MT-ND5 MT-ND4L MT-TV MT-CO2 MT-CO1 MT-TF IFNG MT-CO3 MT-ND4 MT-TW PRKAG2 TCAP MT-ND1 MT-ND2 MRPS14 MTFMT MT-TC TSC1 BMP2 MT-ATP6 GTPBP3 LAMP2 MT-TS2 MT-TQ MT-TK MT-TL1 TSC2 NDUFS2 MT-TH HP_ABNORMAL_MACROPHAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY RAB27A STXBP2 PRF1 GLB1 NPC2 SLC7A7 SGCG NCF2 CD27 NEU1 SMPD1 SAMD9L SLC29A3 HLA-DPB1 HAVCR2 UNC13D STX11 OSTM1 HLA-DPA1 PTPN22 CTLA4 CYBA XIAP LIPA APOE NCF1 IFNGR1 ASAH1 CYBB PRTN3 NPC1 HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY FANCC G6PD FANCD2 RHAG PKLR FANCE RPS24 SPTB C15orf41 SBDS MYSM1 EPB42 PFKM ANK1 CASK PGK1 KCNN4 FASLG STEAP3 SLC4A1 ADAMTS13 SPTA1 NHLRC2 CASP10 RPL15 FAS TERT TERC HK1 RASGRP1 ABCB6 IFNG PIEZO1 CLCN7 RPS26 SEC23B EPB41 FANCA HBB CDAN1 PRF1 RPS17 HBG2 GATA1 CFH KLF1 GYPC CFHR1 PRKCD RPS19 GCLC SLC2A1 RPL35A ABCG8 CFHR3 TCN2 HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL MYSM1 RNU4ATAC MPLKIP NHEJ1 BLNK BACH2 PIK3R1 CD81 IKBKB CD79A STAT3 TNFRSF13C CD19 AICDA IRF2BP2 CASP10 RIPK1 MOGS IGHM CD79B ZAP70 GTF2H5 IGLL1 ADA2 TTC37 ATM LRRC8A TRNT1 CLCA4 BTK RAG1 HYOU1 LAT TNFRSF11A LRBA NFE2L2 DCTN4 CD40LG IKBKG TNFRSF13B CFTR DCLRE1C CTLA4 ALG12 JAK3 GTF2E2 TCN2 IL21 RNF113A ICOS SH3KBP1 TONSL MTOR BLM RFXAP MSN BSCL2 CTPS1 HELLS MAN2B1 RASGRP1 FASLG SP110 LAMTOR2 FAS CD40 NFKB2 RAG2 TFRC TP53 MS4A1 SPINK5 MTHFD1 CARMIL2 PLCG2 XIAP DNMT3B UNG EXTL3 TCF3 ATP6AP1 FOS AK2 IL2RG SAMD9L CXCR4 ERCC2 SLC46A1 AGPAT2 SLC25A13 CNBP PMM2 TGFB1 PPARG CAVIN1 ADA VPS33A RFXANK CD3D NFKB1 CD247 WAS EPG5 ZBTB24 PIGT IKZF1 CD3E PTEN B2M COG6 CIITA RNF168 SKIV2L CDCA7 ERCC3 BCL10 RFX5 ADAMTS3 CCND1 SH2D1A CARD11 STX1A CISD2 CR2 TARS1 PLVAP RTEL1 RMRP CSNK2A1 PIK3CD RBM8A CAV1 CD70 CCBE1 TNFSF12 ITK IL2RA SLC7A7 TIMM8A NBN CD27 CD55 PRKCD FLNA SON FAT4 HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL CYP11B2 STAR CYP11B1 MRAP HSD3B2 NR3C1 MC2R SCNN1B HSD11B2 NR0B1 CYP11A1 AAAS NNT AIRE NR3C2 TXNRD2 HP_VAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_FISTULA DACT1 TCOF1 MKKS WDR35 UBR1 RECQL4 IFT80 CCNQ WDR60 KIF7 SALL1 FREM1 SALL4 DYNC2H1 IL10RB LONP1 SPINT2 TCTN3 JAK3 MNX1 POLR1C POLR1D WDR34 POR HP_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STATURE TWIST1 SMARCAL1 CTBP1 THOC2 SDCCAG8 PHF6 KCNJ1 MCPH1 KCNAB2 FGFR3 RAB3GAP1 DMXL2 ERCC3 STIL COL2A1 CYP19A1 DYNC2LI1 SLC13A5 BPNT2 PUS7 SCN8A KMT2A SHOC2 HCCS TERT GLA WDR35 COL11A2 WWOX NR5A1 RAD50 SH2B1 RUNX2 NUP133 SEC23A FGFR1 FAM111A MYH8 HESX1 PCYT1A CDK6 MMP13 SECISBP2 CEP57 XRCC4 RAB33B ESS2 BMP15 PIEZO2 GNAS IFT43 RMRP ESCO2 MRAS SLX4 INSR GLB1 CHRNG ALDH18A1 KMT2D BBS4 TREX1 AFF2 SLC19A2 BUB3 PDE8B SLC26A2 AQP2 ATRX WDR60 ABCA12 TRIP11 GHR PLP1 ATP5F1D FANCI PEX7 BRF1 DDHD2 FBXO11 RAB18 DOCK3 CLCN5 MYH3 SLC9A1 EVC2 SEC24D TBC1D20 ROGDI FBXL3 GDF5 PHC1 SOX9 FGF8 EBP SRP54 ACAN EEF1A2 MAGEL2 IFT80 UFD1 LETM1 SLC26A4 NUP107 TDGF1 SNORD115-1 HNRNPA2B1 CTC1 HACE1 TBCE SEC61A1 FLNB FANCE PIK3R1 FKBP10 RAF1 GPR161 EP300 CLTC LFNG KIF14 EXTL3 DEAF1 KISS1R SIN3A CUL7 PDE4D SLC34A1 PLK4 SLC5A5 FGFR2 BMPR1B SMAD4 NPR2 NCAPD3 EFTUD2 DCHS1 UBA5 ATP6V0A2 DNMT3B SOS2 DUOX2 ADAR BCR IFIH1 TGM1 CRIPT STAG2 CREBBP ERCC2 OTUD6B CTSA DIAPH1 DNAJC21 PARS2 ATP6V1B2 RBM28 MAST1 NALCN MT-ND6 AKT1 VPS53 NOG TMCO1 ADAMTS10 FZD2 TNNT3 MAD2L2 GH1 MED12 ARSL RPS17 NBAS ERCC4 SPART VPS13B NODAL HDAC6 DYNC2H1 PEX13 SMARCE1 DGCR2 ALPL CHSY1 PHEX NAA10 XYLT2 PRKACA USP7 BDNF HUWE1 PTEN COL5A2 BLM LEMD3 ABL1 RPL31 RIT1 PYGL RPL15 NIPAL4 TRAIP PSMC3IP TUBB TNNI2 CDC45 XYLT1 TNFRSF11A KIAA0556 PRKAR1A DLL1 NR2F1 CDC6 RECQL4 DNMT3A BRCA2 PALB2 POU1F1 PDE6D ASAH1 SDHD DNM1 GRM1 MYO18B RTTN SLC34A3 EIF2AK3 NPHP3 A2ML1 GPC6 MAPK8IP3 SMARCD1 HES7 TGFB3 POLA1 MT-TF RPS6KA3 ALMS1 CDK5RAP2 NAT8L PLOD2 TPM2 SHOX AVPR2 AMER1 CYP4F22 PRDM16 HSPG2 DYM PROP1 GMNN IFT52 HYOU1 CANT1 UROS PDE3A ORAI1 RREB1 IFT140 PEX11B AP4M1 GJB6 SELENON LBR LHX4 TUBGCP4 SMPD1 RFT1 GTF2H5 PEX3 RPS10 ALG12 ACTB PEX19 PEX1 TRMT10A TONSL NXN RSPH9 MKS1 GALNS MBTPS2 IGF1 DONSON ANTXR2 HELLS RPS7 SMARCB1 PPP2R3C TAB2 SHH BCOR SLC25A24 TMEM165 NEU1 DISP1 ERCC5 GNPAT LIFR ADAT3 MAB21L2 PEX2 COL1A2 ASPM CYFIP2 HYAL1 SOX2 WDPCP EXOSC2 TBX4 UBR1 GP1BB SOST P4HB BBS12 EPRS1 SBDS MVK RPL13 PAX8 ERCC1 MAP11 RAD51 SLC6A8 PCNT LIG4 IDUA HOXD13 IFT27 ERCC6 WDR19 CENPJ POLR3B EHHADH SMC3 HRAS RTEL1 KYNU MAP2K2 BRAF CRKL EXOC6B SPARC GRHL2 AP4S1 BBS7 TCTEX1D2 SNAP29 RPS23 DKC1 TBX22 RLIM KIF1C RAD51C TRPS1 GNPTAB TNFRSF11B GLI2 TBX1 POLE CD96 DPH1 CYP27B1 SETD5 COL11A1 MYL2 LZTR1 CCDC22 KCNA4 TKT PRPS1 ALOX12B KIF11 POGZ PHKG2 DDOST PDE11A TINF2 WNT5A MGAT2 PARN KDM5C PEX10 KDSR DHCR24 VCP MTFMT CDK10 COPB2 HSD11B2 NRTN PHKA2 RNASEH2A RRAS IARS2 FAS IFT172 ANKRD11 CUL4B NDUFB11 ANKLE2 BUB1B RAI1 GM2A CYP11B1 WNT4 IHH COL9A1 GTF2E2 ANTXR1 KDM6A MCM9 B4GALT7 EFL1 OSGEP NCAPD2 PPM1D SMS LIMK1 SOX3 RPS28 AFF4 FSHR MAPRE2 AMMECR1 ELN CTSK MESP2 ATR POLR1A KMT2B FGFRL1 FUT8 IFT122 NRAS CHST3 ORC6 WDR4 SYNJ1 HADH BTK ELP2 CHRNA7 NSDHL CEP135 TRAK1 XPC KANSL1 KNL1 AP4E1 TBX15 PHGDH ROR2 HMGA2 MT-TQ NLRP3 SPECC1L IGF2 GABRA2 GJA1 SRCAP CA2 ZC4H2 MYSM1 CTCF AGL TOP3A UFC1 SIX3 MLYCD RERE TRPV4 GZF1 NDN MAPK1 EXT1 INPPL1 TRAPPC6B HNRNPH2 CPLANE1 WNT7A SEMA3D STAMBP COL27A1 BMP1 CDON DPP6 TECPR2 ADAMTS2 ROBO1 MT-TH CACNA1A RPL10 PEX14 MT-RNR1 SEPTIN9 RNF216 ACP5 INPP5K FAR1 RSPH4A ACTA1 PEX12 CLCN7 BBS10 NSD2 BBS9 LMNA PNPLA1 NECAP1 MTOR C1S FUCA1 SKIV2L G6PC RPS27 LZTFL1 AP4B1 ZBTB24 MT-CO1 GJB4 NSUN2 GJB3 TRRAP DDR2 BRCA1 WDR81 ZEB2 PROKR2 KCNA2 SASS6 PNPLA6 SULT2B1 SON ATP8A2 STX16 COL5A1 ABCB6 FAT4 TUBGCP6 NDE1 ATP6V1E1 SP7 CFAP410 PIK3C2A RNASEH2C RAB3GAP2 PIEZO1 BNC1 LHX3 PTHLH BUB1 ARL6 MT-CO2 LTBP2 HPRT1 USP9X INTU HDAC4 COL1A1 CTNS SLC2A1 ARX MRPS22 SATB2 STAT1 TMEM38B CEP120 DNAJC3 IGF1R RSPRY1 PPP1CB ARID1A HNRNPA1 RPS24 PGM1 KAT6B NOP10 MYMK LSS SPRTN ACTL6B OTX2 SCNN1A MT-TP CTNNB1 SLC39A4 DLX5 COX7B SETD2 SAMD9 COG4 GLI3 SLC29A3 CENPE RPL26 FLNA AUTS2 CTDP1 TCTN3 ZNF148 ALDH3A2 SEMA3E FANCF NTRK2 PEX6 TBX3 CHD7 LMX1B CEP290 ZIC2 KAT6A MECP2 VDR SUCLA2 FANCG PPP3CA HDAC8 NIPBL TBX6 ASXL1 PTRH2 FBN1 ANK1 CA8 GRIN2A AIFM1 TPRKB SLC39A13 POLR3A TP53 NKX2-5 PNPLA2 CARMIL2 PREPL PTDSS1 NIN CBL HACD1 ALOXE3 HERC2 LARP7 ADAMTSL2 PUM1 DPF2 LOXL3 NOTCH2 DACT1 MBD5 KLLN EIF4A3 XPA EDNRB WDR62 OCRL PPP1R15B RASA2 DHCR7 PMPCA AMPD2 ZBTB16 IGBP1 RNF168 TMEM67 BMPR1A SPIDR KIF7 KIAA0753 ACER3 TSR2 PQBP1 GRIA4 KLF1 ORC4 FOXA2 WDR73 EBF3 SDHA COL9A3 ADA2 TP53RK PTPN11 IDH1 IYD GOT2 RET RPL35 CLMP TGDS VAC14 SGMS2 USF3 CCNQ CDSN BGN EFNB1 BBIP1 MT-ND5 NHP2 NBN CWC27 CDT1 GLE1 WASHC4 UROC1 EVC CIT ALDOA AGPS ARID2 PAPSS2 HBA2 STIM1 GATM HAAO C15orf41 ARID1B COMP STAT3 LMBR1 RRAS2 OSTM1 OGDH RPL5 BRIP1 KRAS FGF23 TTC37 ATM LTBP3 COLEC10 GSC BANF1 PPIB DHDDS DHPS MT-ND4 NCAPG2 DGCR8 TRIM32 MTHFS SDHB TAF13 SLC7A7 MT-TL1 DYNC1I2 SLC35A2 PTCH1 KCNH1 PLEC CCN6 NKX2-1 GINS1 PCCA NEK1 MAP3K7 CACNA1B WRN CHCHD10 CERS3 DVL1 AGA RAD21 CASK FLCN SLC39A8 PSMB8 FANCA DSTYK KDM1A DGCR6 ARSB RAB23 XRCC2 PTPN22 CCDC8 TRAPPC11 CRTAP LRP5 KCNB1 NPHP1 GTF2IRD1 FANCB WT1 MIR17HG TSHR MRE11 FANCM TUBB4A SELENOI NSD1 MACF1 JAGN1 SUMF1 OFD1 SNRPN CLIP2 COMT SLC4A1 PEX5 SIL1 POLR3H MCM3AP ENPP1 HIRA PTH1R SRY CPLX1 SEC23B WDR34 RPL35A SOS1 RNPC3 SIX6 DDB2 FGD1 IQCB1 GATA4 ANAPC1 KCNC3 RIN2 SEMA3C SLC12A1 STRA6 PWRN1 CLPP CYP17A1 RPS26 FGF12 SLC35C1 HMGB3 TPM3 EIF2S3 ZMPSTE24 PGAP1 EYA1 RPL27 ITGB6 NSMCE2 LIPN PEX16 SCNN1B SDR9C7 PIK3CA RNU4ATAC SCN3A GPC4 CEP152 NF1 SALL4 CASR TFAP2A HHAT B3GALT6 B3GLCT BBS5 PUF60 MSTO1 RPS29 MT-ND1 ATPAF2 SLC6A19 LAS1L DDRGK1 UBE3B LAGE3 HNF1B BMP2 MKKS EDN3 TRIM37 FANCC SEMA5A GBA COG1 GJB2 P3H1 IKBKG IFT57 GPD1 MFSD2A LAMTOR2 HNF4A MYH7 FANCD2 SDHAF1 COL10A1 HCFC1 DVL3 CEP63 WDR11 BAZ1B MT-TS2 AP1S2 GK SMOC1 TLK2 L1CAM DUOXA2 NPHP4 STAT5B TP63 ADAMTS17 TPO SCN4A MAP2K1 MATN3 KIF15 RNF113A ATRIP TTC21B ACTG1 LEPR ZBTB20 ECEL1 SF3B4 CDCA7 EXT2 ERF TAF6 TXNL4A SMC1A AAAS CEP164 CTNND2 PGM3 MBTPS1 NKX3-2 CDKN1C DLL3 BBS1 POP1 COL9A2 POC1A FLII POR SNORD116-1 TG ECE1 GPX4 SERPINH1 RBBP8 LARGE1 C8orf37 GABRD SMARCA4 CSPP1 GABRA5 NOTCH3 CASP8 RPS19 BPTF KCNJ10 SPINK5 CYP2R1 MPL AARS1 TBL1XR1 FMR1 STS TRAPPC2 FANCL COG7 CNKSR2 FOXH1 SLC1A2 PWAR1 PCCB C1R MED13L PORCN WRAP53 PHKB MT-TK DYRK1A PCNA SOX11 TRIP13 TELO2 DNA2 MPV17 COL6A2 SMARCA2 MMP2 MGP HSPA9 FLI1 GYS2 GAS1 MT-CO3 FAM20C SNRPB KIF1A MCTP2 EMG1 ARVCF KIAA0586 CKAP2L INVS TGIF1 HBA1 RPL11 IQSEC2 SKI SDHC SLC35D1 CREB3L1 CYB5A TBX2 RNASEH2B UBE2T MAF CUX1 ATP8B1 USB1 GDNF STAG1 PYCR1 TBC1D23 VLDLR CAV1 RFC2 NLRC4 GABRG2 MEIS2 FOXE1 ATP7A GRIA3 MSMO1 GORAB SCNN1G BBS2 SZT2 JMJD1C ZBTB18 TTI2 YWHAG PAX1 IDS KIF22 ACD EPG5 SOX4 GNPTG B3GAT3 SIX2 TRAF3IP1 UFSP2 GHSR GMPPA SEC24C IFITM5 FN1 MT-ATP6 HCN1 RB1 SYNGAP1 TTC8 RIPPLY2 SMARCC2 GLI1 GATA1 RFWD3 SHROOM4 LHX1 ATP6V1A WIPI2 SLC10A7 IDH2 CHD4 KIFBP CHST11 PEX26 ASL NFE2L2 HSD17B4 INTS1 ABCB11 CDH3 ADNP LONP1 SAMHD1 NPAP1 TTN NUP85 P4HTM FIG4 AIMP2 FARSB MLXIPL COL3A1 SALL1 PCLO TRH WNT1 ORC1 PRMT7 YME1L1 OBSL1 UBE3A ABHD5 ITGA7 SHPK AP3B2 RDH11 STXBP1 DMP1 NUS1 MMP9 RPS15A TUBB2B GRIN2D FAM149B1 GTF2I BMPER KIF23 PAM16 UNC80 PYCR2 METTL5 COG5 NPM1 SLC37A4 RPL18 DDX58 STAC3 VPS13A ARV1 PAX6 MT-TW MKRN3 BRPF1 ARCN1 TERC CAMK2G SIM1 WASHC5 ARNT2 HNRNPU MARS2 GABRB2 TBL2 SIK3 AHSG TMEM216 RBM8A TCIRG1 AP1B1 SUFU SOHLH1 MAP3K20 GUSB HP_INCREASED_BODY_WEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_WEIGHT SHOX HACE1 THOC2 LIMK1 FMR1 SOX3 PHF6 CLCN4 IFT172 TNFSF4 PDX1 KCNAB2 AGRP GNAS ADCY3 HLA-DRB1 AFF4 REEP6 PRPF6 KLF11 KIAA1549 ARL6 DNM2 ELN MKS1 PWAR1 IFT27 SDC3 LIPE SYNE2 RAB39B FGF8 ARHGEF6 RDH12 ZNF408 BRAF SH2B1 BPTF HLA-DQB1 ANOS1 LMNA TRIM32 ARX AKT1 KIF7 TRIP12 FIBP SLC7A7 IL1RAPL1 SHANK3 INS EGF CFI RAI1 SYNE1 ATP6AP2 MTOR XRCC4 SLC7A14 HDAC8 BBS2 HSD11B1 MC4R AGBL5 ANK3 KMT2D ACADVL BBS4 MEGF8 CYP7A1 RAD21 PIGN ARVCF BEST1 RPS6KA3 ZNF365 ADRB3 CRX MID2 ATRX NDN UCP3 IQSEC2 SKI RBP3 CNGB1 RAB23 ZNF513 SLC25A4 FLRT3 KISS1R CCDC141 IFT140 TSPAN7 ARMC5 TRAF3IP1 TP53 LZTFL1 SUFU OFD1 MAGEL2 SMC1A AKT2 GTF2IRD1 UFD1 CDHR1 NF2 SNORD115-1 WT1 CNGA1 DHDDS RFC2 PSMD12 SMO KIZ HNF1A NTRK2 BBS10 DCC PRPF8 FOXP1 EP300 SOX10 POU3F4 DIS3L2 BAP1 TMEM43 NEK2 DEAF1 GNAS-AS1 BBS9 SIN3A SNRPN MAK FGFR1 CLIP2 COMT HESX1 PRKACA JMJD1C TCF20 MCM3AP NEUROD1 CFH ABCA4 C8orf37 GHR TMEM67 USP8 AP4B1 UCP2 HIRA LEP CERKL NRL PAX6 TBX1 SRY H6PD CREBBP PRKAR1A PROM1 ZNF41 PCSK1 RYR1 EHMT1 IMPDH1 CNNM2 RNPC3 ZNF711 LEPR TTC8 ALMS1 PRCD PROKR2 PNPLA6 MTMR14 PAX4 MKKS GATA4 SYP EDNRB VPS13B FGF17 PRPF4 CA4 GDI1 TUB POMC AIP ENPP1 KIDINS220 SLC9A7 CEP164 NSD1 NR2E3 HNF4A PWRN1 MC3R USP7 KMT2A BDNF MTTP PCARE PIGT P2RY11 KCNJ18 PDE4D HDAC4 XYLT1 SEC24C PDSS1 HGSNAT EIF2S3 IGF1R FTO GCK SPRY4 KCNJ11 PRMT7 ARHGEF18 DYRK1B RP1 CLRN1 AHR MED12 CTSH ABCC9 PNKP SIM1 FTSJ1 MAPK8IP3 ALB IFT74 GUCA1B UPF3B PDE6G CTNNB1 CCDC28B HERC1 SETD2 SLC10A7 APOE NIPBL BBS7 GLI3 HCFC1 PRDM16 TOPORS WDR11 BBS5 IDH3B PIK3CA SCAPER MYF6 ARL2BP SPG11 IGSF1 CXorf56 ADRB2 HS6ST1 RREB1 LAS1L PDE6B AP4M1 BLK UBE2A IL17RD ADNP TBX3 NPAP1 P4HTM TMCO1 PRPF3 CARTPT SMC3 SPATA7 SH3KBP1 MECP2 CYP19A1 BBS12 NKAP RERE TAF1 UBE3A MLXIPL INPP5E HCRT IGF1 ABCC8 RPGR APC2 CNKSR2 PIGA BIN1 PPARG HUWE1 BAZ1B PDGFB NIN AHI1 RBMX SOX2 SAG TRAF7 WDPCP HERC2 GP1BB TRAPPC9 CEP290 TRIP4 PTCHD1 ACSL4 CUL4B NR0B2 PROK2 TERT PCNT EYS FGFR3 RGR GTF2I SDCCAG8 EMD CACNA1S DHX38 IDH3A USP27X WDR34 MEN1 ATP7B TACR3 RHO POGZ MRAP2 EXOC6B ZBTB20 PIGL AP4S1 RP9 PTCH1 KLHL7 DNMT3A RLBP1 ALG13 AGTR2 MYT1L CDH23 PAK3 SMARCB1 THRA ARL13B DUSP6 MKRN3 GHRL BBS1 STX16 BBIP1 USH2A MOG FLII RP2 SETD5 FRMPD4 DPYD APPL1 ARNT2 SNORD116-1 NSMF DLG3 AP4E1 FAM161A RPE65 PRPH2 ROM1 TBL2 OTX2 FHL1 RNF135 ERMARD NPHP1 CEP19 DMD SEMA4A HELLPAR ARL3 PHIP CEL MAN1B1 LRAT CANT1 GABRD TULP1 SNRNP200 IFT88 MTFMT FSCN2 MERTK SEMA3A PDE11A CHD7 IMPG2 POMGNT1 SMARCE1 CD46 SMAD4 USP9X PRPF31 PTEN KDM6A IGFALS WNT4 PDE6A FEZF1 CRB1 ZNF81 GABRA3 HP_DECREASED_BODY_WEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_BODY_WEIGHT CTBP1 ELMO2 KCNJ1 TCIRG1 MICOS13 RAG1 INSR NEUROG3 KCNAB2 ARHGAP31 RAB3GAP1 EPCAM POLG NF1 TP53 UBE3B KCNJ11 ASAH1 NDUFS7 NDUFAF1 NDUFV2 GPR35 DYNC2LI1 RAG2 PKP1 SPRY4 TACR3 CYP11B2 FGF17 PUS7 SCN8A ARHGEF6 KMT2A HCCS TERT LAT CCR1 WWOX NDUFS3 PTF1A AUH BPTF LAMC2 EMG1 NUP62 FGFR1 ARX HESX1 ERCC3 CEP57 MRPS16 RAB33B BSCL2 PIEZO2 SUGCT BCL2 SLX4 OCLN GNRHR CSF2RB CHRNG KMT2D WDR11 ACADVL NSMCE3 SFTPB SERAC1 NFIX PDE8B LIPA KRT5 AQP2 FCGR2A WDR60 PLP1 TBR1 FANCI IGHMBP2 PEX7 BRF1 NDUFV1 RAI1 KRT10 ORAI1 SLC25A11 EVC2 ABCC8 MPL WT1 IGHM SOX9 SDHA EBP NEXMIF EEF1A2 MAGEL2 TUBB4A UFD1 LETM1 NDUFAF3 SNORD115-1 TMEM126B RFXANK NDUFS2 SDHD ICOS MECP2 LPIN2 CD3D GPC1 FANCE DLST COX6B1 MTR LMBRD1 SLC9A6 LRRK2 COX14 GPR161 EP300 CLTC DEAF1 SIN3A CUL7 HLA-DRB1 PIGP ZFP57 IL23R DIS3L2 UBA5 FOXP1 CACNA1S CALR PEX5 ATP6V0A2 DNMT3B BRCA1 IQSEC2 CRIPT STT3A MRPL3 MSH6 CREBBP ERCC2 OTUD6B DNAJC21 PREPL PARS2 DUSP6 ACADM IGLL1 ABCA12 TPM3 NALCN MT-ND6 AKT1 DNMT3A NSD2 PEX2 HMGCL MAD2L2 ATXN7 MED12 ERCC4 FOXP3 SLC25A3 VPS13B MT-TL1 KCNA1 PRDX1 PEX13 ALPL MTFMT NDUFB3 PRKACA KCNJ10 RYR1 USP7 HUWE1 PTEN COL5A2 H19 ABL1 CFTR PYGL NIPAL4 TRAIP ACAD9 CDC45 TCF4 ADA CYB5R3 NUS1 TAPT1 MTRR GATM PRKCD CDC6 RECQL4 BRCA2 PALB2 KISS1R PDE6D CAMKMT DNM1 ASNS NSDHL RTTN SC5D SDHB STXBP1 NAGS STRADA PMS2 TACO1 LTC4S LYRM4 TGFB3 NUP188 UBTF MT-TF EPHX1 NAT8L OTC MT-ND3 ZNF335 AVPR2 AMER1 GCDH SPATA5 PRDM16 HLCS GMNN COG4 RREB1 SDHC SELENON TSHR STT3B LBR SLC5A1 PHOX2B SCN2A RFT1 PEX3 MMUT FAM111A ALG12 RET TCN2 ACTB PEX19 NDUFS1 TRMT10A IGF1 ZBTB16 ANTXR2 COA8 RASGRP1 KRAS FLT1 SP110 PPP2R3C HLA-B VPS37A BCOR CNTNAP1 DGAT1 SLC25A24 CNKSR2 MMACHC TMEM165 MBTPS2 MOGS GNPAT COX10 ADAT3 PTPN22 SEMA4A CYFIP2 VPS35 ASXL1 CDC73 EARS2 TBX4 UBR1 SMAD4 TRIM28 GP1BB CYP7B1 PIK3CA EPRS1 SBDS MIPEP SLC12A3 MVK ERCC1 RAD51 GLYCTK PTCHD1 ACSL4 GALT SLC6A8 PEX11B PSMB9 SLC17A5 NFKB1 ALG3 BMPR1A CENPJ TET2 EPG5 HRAS RTEL1 HADHB MAP2K2 CLCNKB MS4A1 BRAF STAT4 MMADHC UQCRFS1 TCOF1 DKC1 RAD51C ACSF3 CDH23 NDUFS4 PAK3 PRNP TBX1 TBL1XR1 SLC25A15 CD96 MLH1 CYP27B1 SETD5 HIKESHI IL7R MYL2 KCNA4 IL2RG DCTN1 PRPS1 DDOST PDE11A MT-ND4 MGAT2 CNTNAP2 PEX10 NR3C2 KDSR DHCR24 DMD CDK10 HSD11B2 NDUFB9 NRTN AHDC1 NDUFA13 ETHE1 CBS MT-TV PSAP GNRH1 NDUFB11 SCNN1G KIF7 ABCA3 CUL4B ANKLE2 BUB1B C12orf65 SCN3A GALE PDX1 EXOSC8 MCCC2 MRPS2 GTF2E2 SLC34A3 MCM9 RPS6KA3 EFL1 OSGEP NUBPL LIMK1 LIPT1 HTT B4GALT7 SUCLA2 JAK2 HYMAI CD79A SURF1 SLC22A5 ELN NDUFS8 NADK2 DPM2 MYH3 TWIST2 GBE1 RRM2B FGFRL1 FUT8 DPYD ORC6 SYNJ1 HADH DNM2 TRAK1 XPC KANSL1 SMARCD2 PHGDH HMGA2 HPD TNFRSF13B MT-TQ CDKN2A POLR1D IGF2 IL1RAPL1 RARS2 GABRA2 GJA1 WDR4 MYMK B2M DOCK6 TOP3A UFC1 NDUFB10 SCNN1A IL21R COL6A3 SKI CORIN NUMA1 DLL4 COL6A1 PRKAR1A NDN GCK SPINK5 LAMA2 LRPPRC TGFB1 HNRNPH2 FOS CPLANE1 PUS3 TSPAN7 SEMA3D ARMC5 STAMBP LEMD3 HLA-DPB1 BMP1 RFXAP DHDDS CDON DPP6 ROBO1 MT-TH XYLT2 CACNA1A PEX14 GPT2 IL12A PRF1 DMXL2 GTPBP2 ACTA1 REST MMAA PEX12 SRP54 ALOX12B NDUFAF5 NDUFA12 DSP ALAD LMNA NABP1 NLRP1 PNPLA1 NECAP1 SKIV2L COA3 COL12A1 SUCLG1 STAT6 VDR ERCC6 UMPS CNTN1 NELFA MT-CO1 GJB4 CCND1 DNM1L GJB3 TYMP ITCH JPH3 PIK3R1 PCSK1 PRTN3 PYCR1 DPM1 PROKR2 PTS KCNA2 ZNF711 COX15 SON AHCY KDM6A GATA6 ATP6V1E1 GDI1 PIK3C2A CAV1 STRA6 CDKL5 PSMB4 CIITA MT-CO2 STOX1 COX20 TGM1 LCK INTU PPM1B DOLK IARS1 CTNS TPM2 FGF8 PYCR2 ARFGEF2 SAR1B AARS2 DNAJC3 ACO2 GBA CBL SCO1 NDUFAF6 SLC46A1 G6PC3 KAT6B MPI COL1A1 SPRTN ACTL6B FTSJ1 ALG11 SLC39A4 HADHA RIPK1 COX7B CLMP PET100 SAMD9 PML COG8 CYP2R1 HSPG2 CD19 CXorf56 KLHL41 AUTS2 PROK2 HIBCH FANCF NTRK2 NECTIN1 AKR1D1 NR0B1 PLEC BCL6 FANCG TRAC PPP3CA YY1 PTRH2 COQ7 KIF1B TAZ ALDOB GRIN2A INS ZAP70 MCM5 PMPCB CARMIL2 EPAS1 GTPBP3 ASXL3 EWSR1 HACD1 TRIM8 TXNRD2 PNPO MT-TN HERC2 LARP7 MRPS7 FAN1 PLA2G6 NDUFAF4 CENPE NOTCH2 ERCC5 DACT1 AIMP1 TWNK NNT ACVR1 KLLN YARS2 CD247 XPA EDNRB OCRL TAC3 USP27X PPP1R15B MC2R MMAB CA2 ATP7B DHCR7 TK2 FBN2 RNF168 MBL2 COX4I2 KIAA0753 GNB1 MYPN TKFC GRIA4 SLC3A1 ITGB4 VIPAS39 RARB ORC4 IFIH1 TMEM127 CD79B MPDU1 PACS1 SRSF2 TIMMDC1 GOT2 FBXL4 TRIO HMBS ERMARD TGDS MAX VAC14 PEX16 USF3 PUS1 TNFSF12 HLA-DQB1 CDT1 EIF2AK3 USP9X BSND AGPS USP8 WDR73 HBA2 FUCA1 GABRA3 POLR1A CLCN4 NEB BLNK SLC13A5 PNPLA6 KISS1 MEFV CTLA4 BRIP1 TTC37 BANF1 PEX1 DNA2 GPC3 MLH3 MSH2 EXT1 POLG2 NCAPG2 MCEE MEGF10 GIGYF2 RUNX1 DCLRE1C TAF13 SLC7A7 SETBP1 IRF2BP2 SLC35A2 PIGQ CKAP2L PCCA CLDN16 COL7A1 CACNA1B WRN CERS3 CD3G TIMM50 COX8A POU6F2 RAD21 DAXX C4A CASK MARS1 FLCN EXOSC9 LRP12 BCS1L PSMB8 FANCA KLHL7 MST1 NDUFS6 SLC2A2 COPB2 TRPV4 F5 XRCC2 ASCL1 CCDC8 SSR4 BCAP31 ZSWIM6 AGPAT2 HSD17B4 KCNB1 HSD3B7 SCNN1B ACAT1 PMM2 GTF2IRD1 MT-ND5 FANCB FAS GPIHBP1 FANCM SNX10 RNF13 JAGN1 DGUOK CD3E SNRPN GALC CLIP2 COG6 COMT POR SFTPC SLC4A1 SIL1 RMRP PLAA TP63 ERAP1 TRMT5 PCGF2 TFAM NOTCH1 HIRA PTDSS1 CPLX1 PMS1 GNAO1 SEC23B TJP2 ZNF41 CHRM3 CYP24A1 MDH2 MT-CYB IL2RB CHD7 DDB2 FGD1 PLK4 GATA4 SYP NDUFA10 PLAGL1 TALDO1 RIN2 SEMA3C SLC9A7 SLC12A1 POLA1 PWRN1 RPS20 CYP17A1 FGF12 SLC26A3 CR2 ATR NDUFA4 CAVIN1 NFKB2 EIF2S3 IGF1R EIF4G1 PDHA1 NSMF NBN ALG8 SGO1 POLR3A HDAC8 MTO1 HAVCR2 TRIT1 MSX1 SNAP29 COL6A2 NAB2 CEP152 NDUFB8 VHL TCTN3 NGLY1 PPP1CB SARS1 ALB ATRX CLCNKA ATP6V0A4 RNU4ATAC B3GALT6 LAMA3 B3GLCT HCFC1 SYNE1 KRT14 MALT1 MT-ND1 ATPAF2 KCNJ18 CD40LG SLC39A8 NACC1 MKKS EDN3 POMC IL21 BCL10 TNFRSF13C ALG9 FANCC LIG4 COG1 ADAR NFASC MAP3K7 TGFBR2 MED17 POMP NHLRC2 ANOS1 MYH7 FANCD2 PTPRC ZIC3 CYP11A1 POLE BAZ1B MT-TS2 UBA1 GK THRB SMOC1 ASS1 NONO ACTG1 GRIN2D FLNA ALOXE3 JAG1 RIT1 FAH MAP2K1 SLC10A2 MUSK KIF15 GNPTAB ATRIP IL12B NPHS1 ATM NDUFA6 COL1A2 SMC1A ALG13 RFX5 FH RELB PUF60 BTNL2 PGM3 NOS1 MBTPS1 NDUFA1 NDUFA11 POC1A FLII FRMPD4 PNKP SNORD116-1 ECE1 EOGT TRIM37 ATP6V1A CTCF RBBP8 DLD MT-TK GABRD ADK CSPP1 OFD1 GABRA5 PARN CASP8 IL6 AARS1 RPS19 SCN1B ZNF81 NKX2-1 CCDC47 DNAJC13 FMR1 TTR BIRC3 FANCL FBN1 GNAS IKBKB STAT5B MT-ND2 COG7 IL12A-AS1 ARID1B MLX SLC1A2 PWAR1 PCCB ECHS1 CD81 MRPS14 THPO STAT3 RAB39B WNT2B PNPT1 DYRK1A LRBA BAAT KLRC4 ATP5F1A NDUFAF2 EVC PEX6 AGXT WDR26 PALLD MPV17 NOD2 SCO2 SLC25A22 SMARCA2 MRAP SNCA GYS2 OTULIN NDUFAF8 HLA-DQA1 MT-CO3 ASL UNC80 MCTP2 LARS1 ARVCF MID2 KIAA0586 TFRC HBA1 FOXRED1 LAMB3 RBPJ VPS33B CREB3L1 NR1H4 CYB5A UBE2T VPS45 ATP8B1 NPM1 HS6ST1 PPARG GDNF STAG1 LRP5 SLC19A3 TBC1D23 RBM10 STAR RFC2 PSMD12 NLRC4 SDHAF1 GABRG2 MCCC1 CCNQ SLC39A13 ACOX1 GRIA3 MSMO1 SZT2 LYRM7 CASR JMJD1C ST3GAL5 RPL5 TMEM70 ARPC1B MAFB TRIP13 SLC25A13 YWHAG JAK3 POLR1C ACD EHMT1 PTPN11 CARS2 SIX2 SMPD1 YY1AP1 AVP MT-ATP6 CSNK2A1 MT-TW KCNJ6 NDUFA2 AMPD2 GHSR DDX3X FZD4 SEC24C NEUROD2 NSUN2 BMP4 FTO HCN1 NDUFA9 TRMT10C SLC25A4 SLC25A21 SYNGAP1 SMARCC2 TRMT1 SDHAF2 STAG2 RFWD3 ELAC2 CPS1 SHROOM4 SLC11A1 UPF3B HERC1 NIPBL PEX26 NFE2L2 ABCB11 SLC34A1 NPAP1 TTN FIG4 SMC3 KRT1 AGTPBP1 ALDH18A1 CYP19A1 RHBDF2 FARSB RERE NRXN1 MLXIPL SALL1 PCLO IKZF1 UBAC2 ORC1 EXT2 RARA RB1 EGFR NDP PCNT CSF2RA AK2 FIP1L1 PNP ITGA7 HLA-DPA1 LRRC8A AP3B2 TLR4 PSAT1 CHEK2 TMEM216 CRLF1 FAM149B1 ACADS PANK2 TMPRSS15 RBCK1 GTF2I FLI1 DEGS1 PAM16 NUP214 KBTBD13 IL10 IFNGR1 SPR VPS13A ARV1 AGTR2 GLI1 COL5A1 MKRN3 ARCN1 GATA2 CLTCL1 OBSL1 STING1 DLG3 GABRB2 SIK1 TBL2 IRF6 CA12 TCF3 AP1B1 ESR2 LHX4 BTK SARS2 ZMPSTE24 MAP3K20 AMACR NFU1 TINF2 CIT HP_CACHEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CACHEXIA ERCC5 NALCN SUCLA2 LPIN2 SLC6A8 JAK2 COL6A2 CEP152 COL1A1 PLK4 SLC9A6 PTEN SCNN1A FOXP3 TRIM37 POLG RBBP8 UNC80 CNTNAP1 LIPA ERCC4 COL6A1 SCNN1G ATRIP TYMP COL5A2 CFTR COL6A3 BMPR1A COL12A1 ATR TRAIP RRM2B TRPV4 PCNT HSPG2 EWSR1 PSAP GALC CALR MPL NDP MAFB CENPJ WT1 MECP2 AKT1 COL5A1 CUL4B NBN ERCC2 SCNN1B TGFB1 ERCC3 ACADM PLA2G6 LMNA TET2 CENPE HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY LOXL3 GNA11 CTNNB1 TSPAN12 BAP1 COL18A1 LRP5 GNAQ TTR SF3B1 COL9A3 RB1 RS1 COL9A2 VCAN COL11A1 CYSLTR2 BCOR COL2A1 CAPN5 NR2E3 FZD4 KCNJ13 BEST1 COX7B ARL3 COL9A1 PAX6 NDP HCCS P3H2 PROC CRB1 NDUFB11 ZNF408 ERBB3 HLA-A ATOH7 CRPPA HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY BAP1 SMARCAL1 CTBP1 ELMO2 SDCCAG8 MTAP ELP1 KCNAB2 ARHGAP31 MT-CO1 XPA RAB3GAP1 DNAH1 NF1 ERCC3 MAG UBE3B CLRN1 COL2A1 TMEM138 PCYT1A CHMP1A GRHL2 ADAMTS18 RDH12 HCCS RAB3GAP2 GLA WDR35 CC2D2A CCR1 MT-TL1 PTCH1 SEC23A B9D1 GALK1 USH1C FAM111A FGFR3 GSR SMCHD1 XRCC4 ESS2 HPS4 SLC7A14 GNAS BCOR KIT TCTN2 PHYH SLX4 OCLN GLB1 POMGNT1 KMT2D TREX1 BUB3 PAX6 RPGRIP1 KCNJ13 ARL3 SALL2 FOXC2 H1-4 CRYGB TBR1 FANCI FGFR1 PEX7 LYST BRF1 FAR1 TEAD1 RAB18 PHGDH EDNRB SLC25A11 IQCB1 TBC1D20 WT1 MMP1 TGFBI FGF8 SALL4 GHR EBP SRD5A3 MAGEL2 CLPB UFD1 LETM1 TDGF1 KIAA0586 MEGF8 SNORD115-1 HNRNPA2B1 SH3PXD2B TAP1 FOXJ1 KITLG PRDM12 WIPF1 DLST SLC4A11 PPP2R5D MT-TW ATP7B EP300 ALX3 DNAL1 B3GALNT2 ANKRD11 DEAF1 ITPA SIN3A MMP2 COL4A3 WDPCP FKTN PLK4 TBC1D7 WAS CRPPA TWIST1 CHRDL1 IL23R TULP1 SMAD4 FOXE3 DIS3L2 C8orf37 PEX5 DMPK BTD ADAR CEP41 RETREG1 IFIH1 SOX10 FBN1 CERKL CREBBP CTSA DNAJC21 HBB ABCA12 AKT1 TERT NSD2 ADAMTS10 PEX2 MAD2L2 ARSL ERCC4 CRYBA4 VPS13B PRPF4 GUCY2D NODAL DYNC2H1 PEX13 SMARCE1 TTC8 DGCR2 CHSY1 KIAA1109 TGFBR2 XYLT2 BDNF PTEN APOA2 COL5A2 H19 CYP1B1 NIPAL4 TUBB TCF4 HGSNAT UBIAD1 DLL1 FLVCR1 MT-ND6 KIF1B ARHGEF18 NR2F1 KRT6A RP1 RECQL4 PALB2 SIX6 PAH ASAH1 SDHD XPC PRDM5 VHL LTBP2 MCIDAS NLRP3 SC5D SDHB GBA2 NPHP3 FKRP WNT10B MC1R SMARCD1 NUP188 RPS6KA3 ALMS1 GUCA1B GUSB PDE6G CCDC28B ZNF335 PIGL APOE PRDM16 PLOD1 B4GALNT1 HLCS TBCK OFD1 UROS GDNF MBTPS2 RREB1 PDE6B PEX11B GJB6 C1QBP CFAP298 GTF2H5 PEX3 TMEM216 PITX2 ACTB HTRA2 PEX19 PEX1 SEM1 SPATA7 POMK TONSL RPE65 GALNS GLRB UBA5 MT-CYB WDR60 SMARCB1 MYO7A CCDC39 ARMC4 COL17A1 NEU1 DISP1 KRT3 LDLR ERCC5 GNPAT RIPK4 LRP2 LIFR DNAI1 MAB21L2 TWNK NAA10 EDN3 MITF PIK3CA CENPF MKS1 EXOSC2 FGFR2 GMPPB PCDH15 KCTD1 TRIM28 GP1BB REV3L POLH COLEC11 GPR143 MIPEP MVK ENTPD1 RAD51 GALT NLRP1 COL4A4 REEP6 OCA2 EYS LIG4 IDUA ERCC6 ALG3 MFAP5 EPG5 HRAS ZFHX2 APC ESCO2 LOX NAGA STAT4 COLEC10 GJB2 TGFB3 CBS PIGO TCOF1 TBX22 CRYGC ADAMTSL4 RAD51C CDH23 GNPTAB OAT TMEM67 TBX1 TBL1XR1 USH2A RP2 SETD5 CCDC22 IFT172 KCNA4 BMP4 KIF11 FOXC1 POGZ FLNA TYR NMNAT1 FAM161A PPP2CA BTRC PARN PEX10 SLC16A12 COL11A1 KDSR PIGW TTC25 VCP PRKAR1A CANT1 WDR19 MERTK RNASEH2A MYO5A HLA-DRB1 AHI1 IARS2 FAS MAT2A CNGB3 TP63 NDUFB11 BUB1B FTL HSPG2 MAB21L1 CRX COL9A1 GTF2E2 ANTXR1 RSPH1 PIGY TMEM231 LIMK1 LBR KIFBP AFF4 PRPF6 IMPG2 MAPRE2 AMMECR1 ARL6 CYSLTR2 PRPH2 ELN CEP55 RRM2B GNAQ MT-TC KMT2B FGFRL1 FUT8 ALDH18A1 DTNBP1 DNAH9 ZNF408 RSPH4A KANSL1 AIPL1 ERCC8 KRT12 AGK CCDC65 BFSP1 POLR1D COQ2 GJA1 KERA COL8A2 MYMK B2M DOCK6 MYSM1 SIX3 WFS1 NRAS MIR140 RPGRIP1L NOD2 DLL4 RERE GZF1 NDN MASP1 STS CNGB1 XPR1 SLC25A4 ABHD5 DST CACNA1F FIBP DNAAF6 SCAPER IFT140 CLN3 LMX1B HNRNPDL ADGRV1 PIGV CEP290 TMEM237 PEX14 GNA11 IL12A INPP5K FLNB CFAP410 RHO CDH11 DHX38 GTPBP2 REST KIZ PEX12 MOCS2 RBP4 CRYAB TWIST2 SMAD3 ALOX12B CHST6 HMX1 LMNA PNPLA1 NHS STIM1 WNK1 ABCA4 TRPV3 FGF3 CTNS BRCA2 STXBP1 NELFA RXYLT1 GJA8 GJB4 NSUN2 FOXL2 GJB3 COL7A1 PROM1 PIK3R1 BRCA1 EMC1 CSPP1 KRT25 WDR81 ZNF469 ZEB2 IMPDH1 SNAI2 CPAMD8 TARS1 ETFDH PRCD PNPLA6 ATP8A2 STX16 COL5A1 LCAT VCAN CA4 PIK3C2A NTRK1 RNASEH2C BEST1 ERCC2 BUB1 DAG1 YAP1 PCARE LRRC6 TKFC DNAAF5 RET RAX TGM1 VSX1 USP9X TUB MAF ROR1 SLC2A1 CPLANE1 AHR OPA1 AMER1 USP45 HNRNPA1 ATP6V1A NOP10 IFT80 SPRTN ALG11 COX7B PYCR1 ABCA1 COG4 RBP3 SLC29A3 DDB2 TOPORS DSG4 CHMP4B CRYBB1 CTDP1 FKBP14 SCARF2 ARL2BP CRYBB3 ALDH3A2 FRAS1 SDHC SEMA3E FANCF OPN1LW LEMD2 ITM2B TGFB2 CHD7 MT-CO3 FERMT1 ATOH7 MAN2B1 PITX3 ZIC2 MYORG SPEF2 FANCG NIPBL YY1 KIAA0556 SLC2A10 ANK1 CA8 KRT74 INPP5E PIGN CYP7B1 MORC2 PPP1R17 TAPBP ANO10 RTEL1 WAC APOB ASXL1 ETFA MMP14 HERC2 FGF10 AGBL1 NDP HARS1 RIC1 ZNF423 DPF2 LOXL3 NOTCH2 SLC4A4 DACT1 CHST3 SF3B1 KLLN PLXND1 MT-TF GAS2L2 LRP4 OCRL IDH3A PIGT KCNN3 DHCR7 FBN2 B9D2 IGBP1 RP9 OSMR KIF1A LARGE1 RLBP1 DNAH5 PQBP1 GLI2 CRLF1 LIM2 TMEM127 LRP5 EBF3 BBIP1 TAP2 RS1 PAX3 DPYD PRSS56 MT-ND5 KRAS FBXL4 COL1A1 EPS15L1 CIB2 MAP2K2 MAFA DNAAF2 SEMA4A AP1S1 MAX ZEB1 SNRNP200 IFT88 VAC14 SIPA1L3 ESPN PEX16 USF3 SCN9A GMPPA NHP2 PSAT1 TKT UROC1 DLX6 PRPF31 DKC1 MT-TS2 JAM2 GATA1 DLX5 PDE6A USP8 WDR73 AP3B1 BLOC1S6 FUCA1 POMT1 B4GAT1 ARID1B SLC38A8 KIAA1549 TACSTD2 MEFV OVOL2 BRIP1 CRYGD MED25 KCNH1 OPA3 GPC3 NCAPG2 GAS8 DGCR8 MT-TK RNF113A RAI1 SLC45A2 TFAP2A TSPAN12 PLEC CHST14 GATAD2B CLDN16 PTCH2 NFIX AGBL5 WRN CERS3 SUFU AGA POU6F2 RAD21 C4A MBD5 SLC39A8 MYOC FANCA KLHL7 DGCR6 OPN1MW LAMB1 TRAPPC11 DSE ARSB VIM RAB23 VARS1 GEMIN4 TCTN1 ARHGEF2 CHD3 XRCC2 CRB1 MPLKIP KRT71 PTPN22 ABHD12 PDGFRB DNAAF4 KCNV2 ARL13B FAM126A ATAD3A TINF2 NPHP1 USH1G CEP104 GTF2IRD1 FANCB CDHR1 UNC45B COL18A1 CEP57 CNGA1 FANCM DHDDS POLG NF2 RNF13 C12orf57 SUMF1 ARMC9 NEK2 SNRPN MAK PHF6 CLIP2 BBS2 COMT POMT2 SIL1 DNMT1 RSPH9 GLIS3 PEX26 ERF RAB27A ERAP1 MAFB NOTCH1 PTH CEP78 HIRA NR2E3 RNF125 SRY CPLX1 TGFBR1 SEC23B FYCO1 WDR34 MDH2 GSN DNAJB13 TBC1D24 GJA3 HLA-B WNT3 ANAPC1 BCS1L VSX2 KIDINS220 PWRN1 KMT2A PIEZO2 CCNO PIBF1 LAMB2 ARID2 HMGB3 TEK IGF1R ALX1 LRRC56 SOS1 KDM5B CTC1 DNM1L PMM2 HDAC8 ALG2 SLC33A1 OTX2 MT-ND1 PIKFYVE AMACR NGLY1 HHAT HSF4 CFAP221 B3GALT6 B3GLCT ERCC1 STK36 IDH3B NEUROD2 MFRP POMGNT2 KRT81 ALDOB NME8 MT-TE LOXL1 NACC1 PNPT1 TRIM37 PDGFB TBCE ACTA2 UBE3A TBX15 IKBKG PRKG1 RB1 TAT EED BFSP2 RPGR FANCD2 SLC39A4 PLCG2 POLG2 DGUOK BAZ1B PTH1R MARK3 COL4A5 MIP ACTG1 CASK NPHP4 ALOXE3 JAG1 COL9A3 RGR ADAMTS17 CCDC151 MPDZ ZBTB20 FGF5 AIRE MPZ FH AAAS CEP164 PACS2 BTNL2 SLC25A24 RNU4ATAC FLII JAM3 CCDC40 SNORD116-1 BBS1 CRYGS EOGT ALDH6A1 ARL6IP6 SLC40A1 CTCF LRAT IL6ST GABRD SLC20A2 RSPH3 TDRD7 AP3D1 APOA1 P3H2 HYDIN DPAGT1 CLDN19 HYLS1 MCOLN1 RPS19 EPHX2 DNAH11 TYRP1 RD3 SPAG1 FANCL SUOX IL12A-AS1 LSS FOXH1 PWAR1 MED13L PORCN CRYBA1 ATP6V1B2 WRAP53 DNAAF1 GFER RHOA SOX11 AEBP1 KLRC4 CRYBA2 PEX6 TELO2 MPV17 LIPH TMTC3 FGD1 CYP4V2 FLI1 GAS1 LDHD SDHA ARVCF COL9A2 INVS PRUNE1 TGIF1 TRIM44 IQSEC2 SKI COL4A1 RBPJ ZNF513 MT-TQ CCDC103 TBX2 RNASEH2B TRAPPC2 GBA UBE2T SLC24A5 PXDN SMC1A MYH11 VLDLR MYH9 RFC2 NOTCH3 LCA5 KRT16 PRPF8 SPINT2 MSMO1 CRYAA PMPCA KCNMA1 KRT86 GORAB JMJD1C MLPH TMEM70 CEP120 ASPH TRIP13 SHH NRL POLR1C COL1A2 ITPR1 SOX4 GNPTG B3GAT3 TGM3 ARID1A POLR3A CPT2 FZD4 SOX2 DCN MYLK TRAF3IP1 PDE4D SEC24C IMPG1 GDF3 TMEM107 CRYBB2 DNAAF3 PGAP2 ALG8 PAX2 RSPO2 FANCE SMARCC2 SDHAF2 SMO RFWD3 SHROOM4 GCNT2 CDON CHD4 CAV1 HPS5 TUBG1 INTS1 ADNP EXOC6B LONP1 SAMHD1 NPAP1 MIR184 EPHA2 P4HTM CFAP300 PRPF3 WHRN FIG4 SMC3 ZMYND10 MT-TV PDZD7 MLXIPL COL3A1 SALL1 CYP27A1 NEK9 IKZF1 UBAC2 DNAI2 NEK10 PRMT7 UBE2A CHN1 LPAR6 RDH5 SMARCA4 SERPING1 SAG MOCS1 PLOD3 TLR4 SLC25A13 HLA-A CNBP HPS6 FAM111B AASS ARSG ETFB TUBB2B GDF6 MT-CO2 GTF2I KRT83 IL10 MIR204 ST14 NPM1 VPS13A TENM3 TTC12 MKRN3 ARCN1 ADAMTSL1 CLTCL1 TERC HPS1 WASHC5 TRPV4 KRT17 TUBGCP6 ABCA2 FANCC ROM1 TBL2 RDH11 DRC1 FSCN2 AP1B1 ELP4 CCDC114 BLOC1S3 PHOX2B USB1 ZMPSTE24 KRT6B KDM6A PGAP3 POLA1 PUF60 HP_INCREASED_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SKULL_OSSIFICATION HHAT OSTM1 NAGLU SGSH HGSNAT VCP HP_DECREASED_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SKULL_OSSIFICATION TBCE NOTCH2 LBR PHF21A COL1A2 PPIB INTU RUNX2 LMNA TRIP11 ZMPSTE24 P3H1 FIG4 SLC25A19 EXT2 COL2A1 COL1A1 SEC23A WNT7A CRTAP TAPT1 HDAC6 FGFR2 ALX4 MPL ALPL SLC25A24 FAM111A ANTXR1 VAC14 ALG9 HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY DOCK8 SMARCAL1 ICOS CD3D NHEJ1 RAG1 PIK3R1 G6PC3 ELANE PSMB9 WIPF1 IL2RG SLC17A5 SRP54 SGPL1 NFKB1 TERT CORO1A CD247 STAT1 RAG2 WAS CASP10 EPG5 TNFRSF13B IKZF1 CD3E PTEN EXTL3 FOXN1 UNC119 MS4A1 GATA2 RASGRP1 STAT4 CD81 SAMD9 PNP ATM TTC37 RMRP FUCA1 SKIV2L GLB1 CDCA7 TRNT1 CHD7 ARPC1B TTI2 NEU1 DNMT3B CD19 CD4 LEP ADAMTS3 ZBTB24 MYD88 BTNL2 SH2D1A KLHDC8B JAK3 CARD11 PGM3 DCLRE1C STK4 CTLA4 IRAK1 CD28 NRAS CD8A TNFRSF13C TCIRG1 IL7R SEMA3E RFXAP XRCC4 MSN LIG4 RNASEH2B LEPR CTPS1 MYSM1 HELLS MAN2B1 FOXP3 TINF2 FASLG CD3G LMNB2 SP110 PRKCD PIK3CD AGA RFXANK CXCR4 FAS ACP5 TERC PTPRC ZAP70 CCBE1 NFKB2 PSMB4 GFI1 CIITA MTHFD1 ADA TNFSF12 AK2 TPP2 MAGT1 TCN2 TFR2 CR2 IL2RA MYC XIAP LCK BCL11B DOCK2 TCF3 HLA-DRB1 NBN IGHM TNFAIP3 TBX2 SPP1 CLN3 RFX5 TNFRSF1B FAT4 LIPA NLRP12 KRAS HP_BONE_MARROW_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_FOAM_CELLS NEU1 SMPD1 NPC2 NPC1 LIPA HP_DERMAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_ATROPHY PLEC KRT14 ITGB4 PORCN CUL4B ERCC5 XPC COL7A1 B4GALT7 ERCC6 COL3A1 FBN1 TERT XPA LAMC2 TP63 ERCC3 LAMA3 DHCR24 ZMPSTE24 RTEL1 TGFB2 LMNA ERCC4 LAMB3 COL1A2 ITGA6 COX7B C1R KRT5 C1S DDB2 HCCS DKC1 ENPP1 USP8 FKBP14 COL17A1 AEBP1 TGFBR2 COL5A1 TWIST2 ERCC2 MMP1 PRKAR1A FERMT1 ACD DLG4 SH3BP2 TFAP2A GSN MGP CHST14 SMAD3 PDE11A CTSC COL1A1 ANAPC1 TINF2 POLD1 SOX18 AIP PDE8B TERC SLC39A13 PRKACA POLH DSE CARMIL2 ABCC6 COL5A2 DST LEMD3 PARN NDUFB11 TP53 TGFBR1 GNAS RECQL4 HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM ERCC5 ERCC3 SLC30A10 ERCC4 CBS AGA ERCC2 TAT HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION PNPO GCH1 PTS KYNU QDPR HPD SLC25A13 FTCD FAH PAH SPR PCBD1 TAT HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION MTHFR SLC25A13 TTC37 PRDX1 MTRR AHCY CBS MMADHC GNMT MMACHC FAH ADK MTR CTH LMBRD1 MAT1A ABCD4 HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM CCN6 SUCLA2 MMAA CBLIF MTR CUBN TTR LMBRD1 UCP2 KCNJ11 GUCY2C SIM1 FAS FASLG ACSF3 MCEE CCND1 PRDX1 MTRR MMAB ABCC8 CASP10 SLC52A1 MMADHC PRKCD MMACHC RASGRP1 MMUT ABCD4 HCFC1 MTHFD1 HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM CCN6 SUCLA2 MMAA CBLIF MTR CUBN LMBRD1 GUCY2C FAS FASLG ACSF3 MCEE CCND1 PRDX1 MTRR MMAB CASP10 MMADHC PRKCD MMACHC RASGRP1 MMUT ABCD4 HCFC1 MTHFD1 HP_ABNORMALITY_OF_GLYCOSPHINGOLIPID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLYCOSPHINGOLIPID_METABOLISM PSAP HEXB MCOLN1 GM2A ARSA HEXA HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION MYO9A GLE1 CRYAB SCO1 CFL2 MATR3 CHRNA1 VAMP1 HNRNPA1 SUCLA2 AGRN NEB SPG11 CPOX ACTA1 COX6B1 TK2 FHL1 YARS2 SNAP25 PLEKHG5 EMD BICD2 CACNA1S TARDBP COX14 TACO1 DNM2 AIFM1 MT-TN TMEM43 KBTBD13 ALAD TPM3 CHMP2B PET100 COL6A2 SYNE2 CHRNE COA3 MT-TL2 MYPN DOK7 MYF6 ASAH1 GFPT1 CNTN1 DMPK KLHL41 LMOD3 LMNA MT-TL1 SLC5A7 MFN2 ERBB4 SELENON COX10 TTN CCDC174 COL6A1 TNPO3 LAMA2 SLC25A1 RYR1 SYNE1 POMK SCN4A MYL2 RRM2B GAA COL13A1 MYL1 MTMR14 TNNT1 COA8 KCNE3 CHAT RNASEH1 HMBS COL6A3 COX8A DES VCP MYH7 SLC18A3 TPI1 TPM2 LRP12 MORC2 BIN1 POLG COX20 KCNJ18 ORAI1 MPZ HACD1 MGME1 ITGA7 SYT2 SLC25A4 COLQ MAP3K20 MYOT UBA1 TRIP4 HNRNPA2B1 GABRA3 HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY BMS1 SMS GATM SLC39A14 SMARCAL1 SLC34A1 PDGFRB LIMK1 SDCCAG8 KCNJ1 TCIRG1 MPLKIP MTAP B4GALT7 FGFR1 WDR35 MMP13 SGSH ESR1 FBN2 FANCL GNAS TERT FSHR RAB3GAP1 CLCN5 WRN KISS1 OSTM1 ELN SOST DPM2 PWAR1 BRIP1 PCCB NDUFAF1 RRM2B GPR35 FGF23 WRAP53 SPRY4 STAT3 TACR3 SLC9A3R1 HAMP FGF8 FUT8 FGF17 MMP14 HSD3B2 IFT122 LRP5 ALDH18A1 GNA11 MTRR BANF1 RUNX2 GLA FKBP10 NFIX NR5A1 BAAT FAH AEBP1 ATP7A ERCC8 SMARCD2 ANOS1 TNFSF11 HMGA2 LRP6 TCF4 FAM111A DCHS1 RUNX1 POLR1D ALB COL1A1 SLC7A7 CYP27B1 GBA RNF113A SETBP1 SLC35A2 MMP2 AR BMP15 CA2 BSCL2 HSD3B7 ADCY10 SLX4 PCCA MAN2B1 MC4R GCM2 GLB1 GNRHR MALT1 LMNA FAM20C WDR11 NRAS SKI MIR140 UNC80 HGSNAT PDE8B SLC39A8 PSMB8 FANCA INVS PRKAR1A COG1 CLCN7 GZF1 DMP1 MST1 NDN SLC2A2 SOX3 LAMB3 GEMIN4 PHGDH FLRT3 TAF1 SEC24D XRCC2 KISS1R CREB3L1 FOS DLX3 TENT5A WNT3A CCDC141 OFD1 CYB5A HFE MMP1 GNPTAB TNFRSF11B ARMC5 LEMD3 CRTAP OCRL BMP1 UBE2T ALPL DCAF17 MEN1 AGPAT2 TINF2 HSD17B4 MAGEL2 ANKH NPHP1 PMM2 HS6ST1 GTF2IRD1 ADAMTS2 PPARG DKK1 NUP107 ENPP1 XYLT2 COL10A1 FANCB SNORD115-1 CTC1 SH3PXD2B PYCR1 HGD EFEMP2 PIGY TBCE COL1A2 SPIB PHEX LPIN2 FANCM RFC2 ERCC4 SNX10 ERCC6 SRP54 HBB TONSL SLC39A13 DCC DHCR24 ATP7B STN1 SOX10 DLL4 PROKR2 SNRPN CLIP2 GORAB SLC4A1 HESX1 VAMP7 PRKACA GLIS3 PLEKHM1 G6PC ERCC3 FERMT3 POLR3H STAT6 MAFB VDR ATP6V0A2 FLNA USP8 DKC1 CTNS TRMT10A BRCA2 LAMC2 TGFBR2 PTH1R NELFA RNF125 CRIPT CCND1 PTDSS1 DVL1 POLR1C SBDS DNAJC21 TJP2 ANTXR2 DUSP6 BRCA1 VPS53 NSD2 TARS1 B3GAT3 BMP2 NAGA CHD7 MAD2L2 ZMPSTE24 UFSP2 STX16 IQCB1 FKBP14 SMPD1 FAT4 IL12RB1 SP7 RIN2 LHX4 PRLR CAV1 AIP TGFB1 POLR3A PDLIM4 BNC1 SLC12A1 TERC HECW2 RECQL4 MMEL1 PWRN1 CYP17A1 PIGT TRAF3IP1 RPL10 AGXT PYGL IRF5 USP9X PSMC3IP CAVIN1 NGLY1 IFITM5 TNFRSF11A NPR2 NSMF LRP4 TAPT1 FGFR2 MRPS22 MAP2K1 SLC25A4 ANO5 SMAD3 COL7A1 PALB2 STAT1 POU1F1 TMEM38B ASAH1 AMER1 CCN6 ABCC9 LIFR FANCE RSPRY1 CBL PRDM5 NAB2 AIFM1 NOP10 SLC34A3 EIF2AK3 RFWD3 NPHP3 MAP3K1 CSF1R EPHX1 SCN9A ZFPM2 KRAS PLOD2 WWOX HHAT SLCO2A1 PTEN TBXAS1 B3GALT6 LAMA3 GTF2H5 PROP1 AP2S1 PLS3 PLOD1 CYP2R1 HSPG2 TBCK SCARB2 FBLN5 NHP2 DHX37 UROS WNT1 PROK2 SEMA3E IL17RD FANCF NPAP1 AKR1D1 SLC26A2 GTF2E2 PSAP CEP290 SFRP4 CYP19A1 FARSB FANCG GALNS MBTPS2 SEMA5A IGF1 ZNF469 GPAA1 P3H1 NAGLU CYP11A1 MLXIPL GJA1 SRY LETM1 EED CYP27A1 PEX12 FANCI HNF4A FANCD2 TMEM165 GNPAT POLG POLE CDH23 POLG2 BAZ1B RTEL1 GK ASXL1 CDC73 TNPO3 GATA4 HERC2 IER3IP1 ADAMTSL2 EBP PLOD3 P4HB SRC TYROBP GFI1 RAD51 LBR NPHP4 TREM2 NOTCH2 CHST3 TWNK HPGD ELANE SLC17A5 SC5D GTF2I WDR19 TET2 IFT52 EXT2 TRPV6 EHHADH TAC3 HJV POF1B BRAF RNU4ATAC IRX5 NPM1 ZBTB20 SQSTM1 SLC37A4 SEC23A SPARC RETREG1 TMEM67 SPIDR POU2AF1 CBS HRAS TCOF1 COX4I2 SLC29A3 ITGB4 WNK1 IFT43 CEP164 RAD51C TRPS1 GLI2 CTNND2 SOX9 KCNJ8 MKRN3 ERCC2 FOXA2 IFIH1 WT1 IL12A CASR AVP SRSF2 POR SNORD116-1 CTDP1 CALCR CTSK DDOST PDE11A FANCC MGAT2 KIF1A PARN ARL6IP6 ASXL2 SERPINH1 NLRP3 TBL2 SIK3 POLD1 CTCF PLEC PEPD VCP CANT1 NR0B1 ABCC6 DMRT3 SGMS2 GALT SEMA3A MITF OTX2 COL2A1 FBN1 GNRH1 NOTCH3 ESR2 SLC25A19 IARS2 PSAT1 USB1 CYP11B1 RPL11 TNFSF15 GATA1 TRIP11 FEZF1 EFL1 HP_ABNORMAL_CIRCULATING_PURINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PURINE_CONCENTRATION SLC37A4 XDH SEC61A1 LMAN1 HMGCL PHKG2 CLDN16 MOCS2 PFKM ALDOB MUC1 PPARG ALMS1 UMOD HNF4A PNP SLC2A2 TNFRSF11A SH2B1 PHKA2 G6PC MYC GPHN HPRT1 PRPS1 EIF2AK3 SARS2 TNFRSF11B MOCS1 SLC2A9 HNF1B FBP1 ACAT1 MOCOS MCFD2 REN SLC22A12 HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION GLYCTK AASS GALT PRODH ATP8B1 BCKDHB ALDH4A1 MICOS13 SUCLA2 ETFB MCCC1 FAH NAGS MMAA MTR SLC25A13 LMBRD1 CPS1 POLG SLC36A2 PLAU GCH1 ASPA MMAB NADK2 TNFRSF11A EPHX1 ALDH5A1 OTC PNPLA8 UROC1 PCCB PSPH SLC30A10 DBT GCDH TYMP IRF6 SLC25A15 SLC6A20 TMEM70 MTRR MCCC2 ASL PLOD2 PDHX BAAT SLC6A19 RRM2B NOS3 SLC6A3 PCK1 ATP5F1A ACSF3 MPO MCEE APP A2M OAT MT-ND1 PHGDH TNFRSF11B MRPL3 TMEM126B HPD FTCD GLRX5 PC TJP2 MMUT HAL ABCD4 GCSH L2HGDH CCN6 TTC37 PTS SLC6A18 ETFDH GNMT PCCA MT-ND4 FBXL4 LIPT2 AHCY DNAJC19 GUCY2D MT-TL1 MTHFR MT-ATP6 SARDH ABCB4 PRDX1 DLD MT-ND3 MT-TK MMACHC MT-TW PSAT1 ADK CA5A MT-ND6 SPR MT-ND2 HCFC1 GLDC NDUFA13 KYNU CBS SLC7A7 BCKDK MT-TV PAH PCBD1 TAT MAT1A BCKDHA ETFA PDHA1 PNPO HFE DMGDH ASS1 FBP1 QDPR AMT MMADHC COQ9 TRMT10C MT-ND5 TALDO1 MTO1 MIPEP CTH HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM OCRL GNPTAB DNAJC5 ASAH1 TNFRSF11B CA2 CLCN7 CLN6 HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION TANGO2 PEX5 KCNJ1 PEX12 PEX19 HMGCL HNF1A SLC22A5 KCNJ11 PEX10 PEX2 LTC4S ACADVL MT-TE PEX14 ACAD8 ACADL DLD NADK2 TRMU ABCC8 PEX1 PEX13 CPT2 SLC12A1 PEX7 SLC25A20 PEX6 PHYH ACAD9 HADH PEX26 CTNS UCP2 HNF4A PLA2G4A SLC52A1 ABCD1 PEX3 PEX16 ACADM PEX11B HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS SHOX GATM NDUFS1 BCS1L LIPT1 KCNJ1 MICOS13 SYNJ1 SUCLA2 NEUROG3 NARS2 MT-CO1 SURF1 TSFM MT-ND2 KCNJ11 NDUFV1 NDUFS8 PLPBP NADK2 GSS PNPLA8 ECHS1 PCCB LCT NDUFS7 NDUFAF1 NDUFV2 RRM2B BOLA3 TK2 MRPS14 GATA3 TYMP MRPL44 MT-TC CYP11B2 HSD3B2 TRNT1 PDP1 PNPT1 HADH MT-TK MT-TL1 MT-ND4 NDUFS3 PET100 NDUFAF8 POLG2 MCEE NDUFAF2 STX3 TWNK PHKG2 AGK AGXT NDUFB11 HSD17B10 POLG HPD HLA-B MT-TQ MPV17 SLC7A7 NDUFAF6 RARS2 SCO2 NDUFS2 SLC37A4 L2HGDH MRPS16 MT-TT CCN6 DLD CLCNKB CA2 PDSS2 MT-TW SFXN4 PCCA CLDN16 LIPT2 INSR TIMMDC1 NDUFB10 CHCHD10 MT-CO3 ASL ACADVL KLHL3 TIMM50 COX8A SERAC1 MLYCD COQ4 LARS1 MARS1 IL6 GFM2 CA5A UQCC2 OGDH ATP5F1D GCK NDUFS6 SLC2A2 FOXRED1 LRPPRC NDUFA11 VPS33B SLC25A4 NDUFB9 NDUFAF4 ABCC8 UQCC3 OCRL SDHA DGUOK PPA2 ATAD3A COQ9 ACAT1 MT-ND5 MT-TH NDUFAF3 LIAS TMEM126B SLC19A3 DARS2 RARS1 PTPN22 ETHE1 COX6B1 MMAA CPT1A LMBRD1 COX14 MCCC1 GCDH AIFM1 NDUFAF5 NDUFA12 RNASEH1 TXN2 SCNN1G SLC4A1 LYRM7 SLC25A15 COA3 G6PC WNK4 TMEM70 PDHB MT-TL2 TRMT5 GFER ITGA3 SUCLG1 IVD MT-TS2 PDHX USP8 GTPBP3 BTD MRPS34 UQCRC2 PCK1 CACNA1S CARS2 UQCRQ MRPL3 TPK1 DNM1L PREPL ACAT2 RYR1 ATP6V1B1 WDR35 MT-ND6 EPG5 SDHD MT-CYB FBP1 ETFDH COX15 PLVAP HMGCL SLC25A3 LARS2 NDUFA10 TANGO2 ADAMTS13 PRDX1 MT-ND3 AIP SLC12A1 MTFMT NDUFB3 NDUFA2 OXCT1 TKFC MT-CO2 SLC26A3 COX20 PYGL ACAD9 NDUFA4 NGLY1 PPM1B PDSS1 TRMU CTNS PDHA1 NDUFA9 MT-TF MMADHC TRMT10C HSD11B2 DLAT MTO1 ACADM SCNN1B MT-ND1 PAH AARS2 CAMKMT SCO1 BCKDHB NOTCH2 NDUFB8 ELAC2 CPS1 TACO1 MT-TE LYRM4 SCNN1A OTC NDUFA13 YARS2 CLCNKA ATP6V0A4 ISCA1 COQ8A DBT HNF4A MRPS22 COQ2 PUS1 ATPAF2 TUFM WARS2 ALDOB AUH CAD HIBCH CYC1 HNF1B SLC5A1 COX10 C1QBP GYS2 PC MMUT WNK1 MT-TI USP18 HTRA2 MYO5B MDH2 COA8 MT-TV CYP11A1 TARS2 TAZ MT-ATP6 FARS2 IKZF1 MMACHC SDHAF1 PMPCB HCFC1 KYNU UQCRB NDUFS4 HS6ST2 GK ISCU BCKDHA DPYS ETFA PNPO EARS2 ASS1 MT-TN SLC52A1 SLC25A13 MRPS7 CLPB RMND1 MIPEP SLC12A3 CUL3 COA6 ACSF3 GLYCTK GALT JAG1 SLC4A4 ETFB HLCS NR3C1 FAH ACADS PAX4 EHHADH HADHB MMAB SLC16A1 MT-TP NDUFA6 NDUFA1 SLC25A19 INS UQCRFS1 IBA57 FH INVS CACNA1D SLC3A1 VIPAS39 CYP17A1 ABCD4 FN1 MPC1 ITPR3 PDX1 MECP2 GOT2 FBXL4 GFM1 DNAJC19 ALDH6A1 NR3C2 NAXE HNF1A ATP5F1E HADHA PHKA2 KCNJ5 LDHA SLC25A26 KCNJ10 EIF2AK3 SARS2 C12orf65 SLC25A42 MCCC2 BSND NFU1 NUBPL FDX2 HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL LMNA AKT2 BSCL2 AGPAT2 MECP2 LEP LEPR LIPE CIDEC HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION TANGO2 SEC61A1 MMUT BICC1 GLUL HLCS CPT2 ELP1 MCCC1 FAN1 PCCA NAGS MMAA CPT1A C3 SLC25A13 MOCS2 SLC22A5 GANAB CPS1 MUC1 PPARG HADHB MMAB ALMS1 UMOD OTC PCCB NDUFA6 SLC37A4 PNP HNF4A SLC25A15 TNFRSF11A SH2B1 G6PC TMEM70 HADH MCCC2 ASL DBH TMEM260 PKD2 SLC25A20 ATPAF2 PRPS1 TUFM UQCRC2 INVS ARG1 ALDOB NT5E CAD CYC1 TNFRSF11B CFH HNF1B CCND1 CFHR1 PKD1 MOCOS CFI THBD ACADM SLC7A7 HPRT1 MECP2 GOT2 LMAN1 COL4A3 HMGCL PHKG2 CLDN16 CD46 COQ7 PFKM FLT1 CFB ACADVL AVPR2 ADAMTS13 ACADL DLD CORIN SERAC1 CA5A ATP5F1D HADHA SLC2A2 GLUD1 WDR19 NBAS PHKA2 STOX1 HBB MYC GPHN ACAD9 NR1H4 EIF2AK3 SARS2 MOCS1 OCRL SLC2A9 ASS1 FBP1 BTD SLC25A42 ACAT1 MCFD2 CFHR3 REN SLC22A12 HP_INCREASED_PURINE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PURINE_LEVEL SLC37A4 TNFRSF11A SH2B1 PHKA2 XDH SEC61A1 G6PC MYC HPRT1 LMAN1 HMGCL PHKG2 UMOD CLDN16 PFKM PRPS1 EIF2AK3 SARS2 TNFRSF11B ALDOB MUC1 PPARG HNF1B FBP1 ALMS1 ACAT1 MCFD2 HNF4A REN HP_ABNORMALITY_OF_TEMPERATURE_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION NKX2-1 VPS11 PRSS1 KCNJ1 MICOS13 LBR BIRC3 ELP1 EIF2B4 IL17F EDAR BLNK LPIN1 EPB42 CD79A IL36RN STAT5B SPINK1 NOTCH3 DNM2 MEFV TP53 IL12A-AS1 CTLA4 MLX MYH3 PRKAR1A PWAR1 RUNX1 GPR35 PRSS2 RAG2 ADA2 STAT3 EPB41 CYP11B2 DBH NGF GLA ALG11 CCR1 MT-ND4 GPC3 XPC IL6 CCND1 KLRC4 ATP7A CFH PSTPIP1 HLA-B TCF4 MT-TQ LPIN2 BCOR NOD2 NLRP3 ATXN3 IRF2BP2 SH2B3 CYBC1 EDARADD IRF8 CHRND CACNA1S MYD88 BCL2 GCH1 LACC1 CASK SCNN1A MT-CO3 ACADVL PAX8 HAVCR2 TREX1 STX11 POU6F2 C4A ATM LIPA NUMA1 AQP2 SLC25A20 MST1 NDN NCF4 LYST RAG1 TNFSF11 ORAI1 F5 DST TRIM28 GALC SCN10A SLC18A2 CLCN7 TSPYL1 WT1 TNFAIP3 SPP1 RNASEH2B ELANE BCAP31 HLA-DPB1 UNC13D SCN11A CPT2 QDPR DCLRE1C MAGEL2 NPM1 ANK1 SCNN1B ACAT1 AVPR2 MT-ND5 MT-TH KRT14 DDC FAS SNORD115-1 PEX6 SCN5A IL12A NLRC4 CD3D CHRNG WIPF1 IL2RG REST SRP54 TSC1 NCF2 GCDH DGUOK CD3E STIM1 SNRPN NABP1 NLRP1 SCN4A STAT4 ITPR2 HLA-DRB1 WAS RMRP IL23R DIS3L2 RAB27A ERAP1 FOXP1 STAT6 CALR SPTB TRIP13 ADAR IFIH1 MT-CO1 TBL1XR1 CFHR1 ATP1A2 NFKBIA BCR HBB SLC19A3 IGLL1 IRAK1 RYR1 CLDN10 PRTN3 COG6 UNC93B1 NALCN CYBB MT-ND6 TCIRG1 G6PD GAA MT-CYB FBP1 PTS JAK2 HMGCL MTMR14 DDB2 AVP MT-TL1 SLC4A1 ADAMTS13 ABCA1 MT-ND3 EIF2B1 NTRK1 RNASEH2C POLR3A ALPL IL17RA SLC12A1 MT-TW SCNN1G ERCC2 PWRN1 PSMB4 MT-CO2 COL1A1 H19 CFTR NCF1 NGLY1 ABL1 ERCC4 MAP2K1 PMM2 ASAH1 NLRP12 LIFR CYBA SHANK3 KLHL7 EIF2B3 IL17RC NAB2 RANBP2 MT-TF ERCC5 SLC11A1 PHOX2B IGHM CLCF1 PML SLC29A3 EDA HSPG2 TBCK MYF6 MALT1 MT-ND1 TRAF6 SAMHD1 TBX3 NPAP1 BRCA2 P4HTM BCL10 SH3KBP1 BCL6 LIG4 ZBTB16 IL7R KIF1B MT-ATP6 GDNF POMP ACADL TNFRSF1A IKZF1 UBAC2 TMEM165 MBTPS2 ABCC2 RARA RB1 BIN1 SPTA1 PMP22 ADA PTPN22 MT-TS2 ASCL1 SLCO1B3 KRT8 EIF2B5 TLR3 ABCA12 SNX10 AK2 TRAF3 FIP1L1 EIF2B2 HTR1A HLA-DPA1 HERC2 LRRC8A GYPC TSC2 TLR4 TRAF3IP2 TRAPPC9 ATP1A3 CYP21A2 GFI1 CHEK2 CRLF1 KDF1 TICAM1 PSMB9 CD247 XPA MVK ERCC3 CACNA1A ZFHX2 ATP13A2 XIAP IL10 IFNGR1 IL12B SPR ACADSB MIF RNF168 UQCRFS1 SLCO1B1 STXBP2 STAC3 IBA57 MPL SCYL1 SCN9A BTNL2 HEXB MKRN3 PRNP EDN3 PTPN3 CD79B CHD7 GATA2 NECTIN4 CTRC TBK1 CHRNA1 TH SLC12A3 SNORD116-1 STING1 MAP2K2 KRT18 MT-TK TCF3 MT-ND2 PIK3R1 RNASEH2A MT-TV PSAP RET CD27 SLC25A19 BTK CLEC7A CFHR3 TET2 HP_REDUCED_CONSCIOUSNESS_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CONSCIOUSNESS_CONFUSION PDX1 CPT2 TNFSF4 EIF2B4 PSAP POMT1 CPOX TOMM40 HLA-DRB1 SLC22A5 MT-ND2 TREM2 NOTCH3 MEFV NDUFV1 IL12A-AS1 KCNJ11 MLX PCCB KCNQ1 RRM2B BOLA3 SLC1A2 SLC2A1 STAT3 HCRT HAMP CYP11B2 DPYD GNA11 MTRR HADH CCR1 BRAF FKTN MT-ND4 NDUFS3 AUH HLA-DQB1 NDUFV2 KLRC4 KCNQ3 TRDN AK9 KIF1A CFH ABAT PRNP MT-TQ DNMT1 AKT1 ERCC3 SLC7A7 SCO2 NDUFS2 NDUFB11 PSEN2 MRAP SCN4A MRPS16 MT-TT DLD GNAS TLR3 MYD88 PCCA GCH1 GYS2 MAN2B1 TIMMDC1 NDUFAF8 NDUFB10 MT-CO3 ASL CHRNE ACADVL PAX8 C4A ZNF365 SCN8A MMACHC SLC25A20 CA5A NFKB2 ARSA ATP5F1D NDUFS6 FOXRED1 NBAS SLC18A3 COL13A1 NDUFAF4 SLC16A1 GBA SPP1 TBP PRRT2 BNC2 SUFU ERCC4 ACAT1 MT-TH NDUFS8 NAGS NDUFAF3 NF2 FAS TMEM126B STAR IL12A SPIB PRF1 SMO MMAA CPT1A LMBRD1 HNF1A ZNHIT3 FIG4 MCCC1 ATP7B GABRB2 ABCC8 GCDH BAP1 SLC25A19 GCK COG6 STAT4 SLC4A1 ISCA2 LYRM7 DOK7 SLC25A15 ZFP57 INSR IL23R ERAP1 IVD STAT6 DMPK UCP2 PPOX BTD EPM2A MT-CO1 SLC5A5 CFHR1 ERCC2 ATP1A2 SMARCB1 MT-ND5 ACADM LRP4 SLC19A3 RYR1 IRAK1 CYP24A1 UNC93B1 MT-ND6 HLA-B MT-CYB FBP1 PTS ETFDH HJV HMGCL APP ASPA AVP NDUFAF2 IL12RB1 PLAGL1 NDUFS1 ADAMTS13 PRDX1 EIF2B1 POLR3A CHRND NDUFB3 MMEL1 P2RY11 MT-CO2 COL5A2 IRF5 PDHA1 MMUT HADHB GJB1 GLUD1 MMADHC SLC25A4 MT-TL1 CHRNA1 NDUFS7 CTSH NUP88 KCNE1 DHCR7 NDUFAF5 BCKDHB EIF2B3 NAB2 RANBP2 NDUFB8 SLC25A13 POLG CPS1 FKRP MT-TF CTNNB1 OTC SLC39A4 MT-ND3 SURF1 HADHA DBT SNCA CHRNB1 HLCS PIK3CA MT-ND1 ALDOB SCN2A NAXD MC2R TCN2 USP18 GCSH RAPSN MUSK INS ACADL UBAC2 LARGE1 GLDC NAA10 KYNU POLG2 PDGFB MT-TS2 KCNQ2 KRT8 EIF2B5 NDUFS4 PRDM8 TRAF3 GK BCKDHA DPYS CACNA1A ETFA TNPO3 EIF2B2 TXNRD2 TRAF7 POMT2 ASS1 TLR4 COA8 RMND1 SLC12A3 TBK1 ERCC5 TWNK NNT TICAM1 ETFB TERT ACADS SLC13A3 SORL1 SLC25A22 MMAB MEN1 ATP13A2 CLCNKB PSEN1 IL10 IL12B SPR ACADSB NDUFA6 POU2AF1 NHLRC1 HNF4A CDH23 COL5A1 THRA MT-TW NDUFA1 NDUFA11 ABCD4 MOG CASR TH MYOD1 ABCA7 NDUFAF1 PRPS1 SNCB CUBN COL1A1 NAXE HMBS KRT18 TBC1D24 CHRNA2 MT-TE AKT2 GALT NDUFB9 NDE1 SMARCE1 EIF2AK3 HYMAI SIK1 AMT TNFSF15 MCCC2 PIGG SLC19A2 NFU1 AGRN USP8 CFHR3 COL3A1 NUBPL HP_FOCAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_DYSTONIA TWIST1 CP PANK2 COL6A2 SCN4A NEK9 MAPT NGLY1 PRKCG FLI1 DRD2 TGFB2 GCH1 MECR ATP13A2 FGFR3 PNKD COASY COL6A3 KCNA1 TBC1D24 TUBB3 FGFR2 KMT2B PLA2G6 COL12A1 CACNA1A ARX GNA11 TCOF1 HSPG2 C19orf12 MAFB VAC14 COLEC11 TRPV4 KCTD17 PCGF2 SCP2 TGM6 KIF1C SLC39A14 THAP1 ATP1A3 TUBB4A POLR1C SGCE POLR1D COL6A1 SLC19A3 HPCA GNAL CASR CIZ1 TH TOR1A GNAS PARK7 SYNGAP1 STX16 PRKRA HINT1 MYF5 KCNC3 FTL STARD7 PRRT2 ANO3 DRD5 ATN1 CDK10 NAA10 CHN1 ALDH18A1 TBP TIMM8A GDAP2 ZNF142 ACTA1 SALL4 TAF1 AARS1 HP_HEMIPLEGIA_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA_HEMIPARESIS ALAD RD3 SLC12A6 SOX3 TREX1 KCNJ13 SLC1A3 FGFR1 KCNAB2 ARHGAP31 MT-CO1 PMS2 GDF6 SUOX EPCAM NOTCH3 TGFBR3 PEX7 MEFV IFT140 ATP1A3 MT-TF IL12A-AS1 CTLA4 PNPLA8 PTEN SLC2A1 TSC1 ADA2 PRDM16 PCYT1A MT-TC WDR4 PIK3CA CCR1 MT-ATP8 MT-TK MT-TL1 MT-ND1 MT-ND4 MLH3 MSH2 GALC EXT1 NUP133 AIPL1 KLRC4 GDF3 CFH SAMHD1 COL3A1 MT-CO3 MT-TQ DOCK8 AKT1 NAGA HPRT1 TTPA FKTN RPE65 SCN1A TLR3 RERE DOCK6 PHYH MT-CYB GJB2 MT-TV NUP107 POMGNT1 L1CAM TGFBR2 SP110 ARX C4A UBAC2 DLL4 COL4A2 EXT2 TPRKB IKBKG POMT1 PRRT2 TPP2 SKI COL4A1 FKRP SEMA4A RBPJ PDGFB MT-TS2 PROKR2 VHL IQCB1 CRB1 GJB6 SOX2 SPP1 RNASEH2B TRAF7 HLA-DPB1 GMPPB HLA-DPA1 RDH12 SUFU TLR4 RHOBTB2 ABCA1 THSD1 TUBB2B PNPLA6 MT-TH FAN1 NF2 FAS CTC1 CEP290 TBK1 SPATA7 RNF216 BAP1 IL12A PRF1 TBC1D24 TERT RRM2B SMO TTR LCA5 MT-CO2 BMPR1A IMPDH1 MT-TW GCDH CACNA1A B3GALNT2 TSC2 DNASE1L3 ERGIC1 IL10 HESX1 STAT4 IL23R TULP1 CBS PDGFRB CYP26C1 ERAP1 WDR62 ENPP1 LARGE1 RPGRIP1 OSGEP NOTCH1 ADAR IFIH1 SMARCB1 PTPN22 MSH6 PMS1 CFHR1 ATP1A2 MT-ND5 WDR73 IRAK1 PRTN3 MLH1 TP53 MT-ND6 TP53RK HLA-B KRAS ARNT2 ENG NMNAT1 PRNP GUCY1A1 HLA-DQB1 EOGT OTX2 GUCY2D ARG1 RNASEH2C MEOX1 GABRD CPT1A RPS20 ABCC6 RNASEH2A APOA1 ANGPTL6 GNAQ PAH SMARCE1 MTOR SNORD118 POMT2 MMUT DNM1L CRX GBE1 LAGE3 POLA1 LRAT CFHR3 RASA1 OPA1 USP45 HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM CHEK2 MN1 PIK3CA GLI3 KARS1 EDN3 SDHD VHL TUBB TSC2 ERBB2 NAB2 KEAP1 KCNAB2 APC SDHB SDHAF2 POT1 TCTN3 GNAS PTEN PMS2 MLH1 WRN MAPRE2 EPCAM NF1 GPC3 ATRX RELA PHOX2B TMEM127 CPLANE1 NF2 IDH2 CDKN1B PRDM16 TSC1 LZTR1 SDHC GDNF PDCD10 SUFU NRAS MLH3 PTCH1 MSH2 MSH3 SMARCB1 LMO1 FH RUNX1 CDKN2A MYO1H LMNA AKT1 SPRED1 LIN28B HRAS RET MEN1 SETBP1 NTHL1 CCND1 BDNF RERE YY1 GPC4 KIF1B RB1 TGFBR2 BRD4 SDHA SOX2 DAXX APC2 BRCA2 FGFR1 EPAS1 SKI SEMA4A PDGFB SLC25A11 EWSR1 CCM2 ASCL1 DICER1 MDM2 ARMC5 TRAF7 OCRL SMO GCGR CDKN1A PRKAR1A IDH1 TP53 CDKN2C FAN1 BAP1 EPHB2 DLST TERT KLLN FAM149B1 RAF1 WDPCP MYCN IFNG BMPR1A FLI1 OFD1 ALX3 CTNNB1 TOP2A PTPN11 NUTM1 PALB2 PTCH2 KIF7 LRP5 PDGFRB KIAA0753 DNMT3A STAT6 POLE NOTCH3 SMARCE1 DMPK WT1 ADAMTS3 MSH6 PMS1 SEC23B MDH2 POLD1 RNF43 KRAS SMARCA4 SIX6 C11orf95 KIT TMEM216 MAFA BRAF MAX NSD1 ALK GABRD CCBE1 RPS20 USF3 HACE1 NBN ZSWIM6 ALX1 KRIT1 L2HGDH SETD2 CDKN2B FAT4 PDE6D HP_HEMATOLOGICAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOLOGICAL_NEOPLASM CHEK2 FANCE CBL TERT ATRX RPS24 BIRC3 GATA1 STS JAK2 FANCL POT1 NOP10 GATA2 RFWD3 MLH1 TCF4 LIG4 NPM1 RARA CD19 SH3GL1 CASP10 PDGFRA RPL5 BRIP1 ERBB3 RUNX1 KRAS PIGL CD81 SAMD9 THPO DYNC2LI1 RPS26 RAG2 WRAP53 GFI1B STAT3 ABL1 LPP ATM TP53 NRAS RPL26 RPS29 CALR ASXL1 CEBPA MALT1 ELANE TET2 NUP214 MSH2 CCND1 HAX1 SMARCD2 MYD88 EVC RAD54B FANCF SAMHD1 TRIP13 TNFRSF13B RPS10 FLT3 BCL10 SETBP1 TNFRSF13C SH2B3 FANCC BCL6 BLM CD28 MCM4 FANCG GBA BCL2 GINS1 IL7R MYSM1 SLX4 KIT NBN RASGRP1 RB1 TINF2 RECQL4 FASLG PRF1 BRD4 TREX1 SMPD1 FANCI NBEAL2 BUB3 PDGFRB FAS FANCD2 RPS28 ZAP70 FANCA BAX RPL11 LYST ADA CHIC2 POLE XIAP RTEL1 EVC2 XRCC2 SCN10A MPL CTLA4 MDM2 SAMD9L RNASEH2B PNP UBE2T CBFB ARHGAP26 SCN11A F13A1 DCLRE1C SRP72 BCR SBDS ICOS NAGS FANCB GNB1 TAL1 PIGA TYROBP GFI1 RAD51 TREM2 CEP57 PICALM FANCM ERCC4 RPS15A PIK3R1 WIPF1 IL2RG SRP54 RAF1 NFKB1 PTPN11 XRCC4 PTEN EP300 DNASE1L3 MS4A1 NUTM1 NTHL1 ETV6 RPS14 WAS RPL18 RMRP SRSF2 DNMT3A DNAJC21 RPS27 RPS7 FOXP1 TSR2 DKC1 APC ADAR RAD51C BRCA2 GLI1 IFIH1 SCN9A CDKN2A SH2D1A KLHDC8B NSUN2 CREBBP PGM3 CHD7 BRCA1 BUB1B TERC AAGAB TCIRG1 ADA2 HSPA9 PIK3CA RNF43 CR2 COL14A1 KIF11 MAD2L2 RPS17 PARN NUMA1 RAD54L MSH6 RPL35 BRAF RNASEH2C CD70 SF3B1 DDX41 PMS2 RPL35A BUB1 MYC TNFSF12 MAGT1 ITK RPL31 MLLT10 RPL15 RNASEH2A NHP2 TAL2 CD27 NFKB2 RPS19 HLA-DRB1 RHOH NF1 USB1 PRKCD CTC1 RPL27 TNFRSF1B PALB2 F13B RAG1 TP63 EFL1 HP_ABNORMALITY_OF_THE_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANUS RSPO2 KMT2D FANCE DOCK8 PIGY KCNAB2 POMT1 FANCL RECQL4 IFT80 RFWD3 GDF6 FKRP SALL4 CDH1 BRIP1 FGFR2 COX7B PORCN EMC1 AMER1 CD81 ZIC3 B3GLCT GLI3 SALL1 CHD4 PRDM16 SMO CHD7 HCCS WDR35 FKTN CD19 RREB1 GDF3 FRAS1 FANCF LONP1 ROR2 TBX3 TNFRSF13B WASHC5 DCHS1 MKKS PITX2 SETBP1 TNFRSF13C NXN SEMA3E CEP120 HSPA9 FANCG FUZ BCOR RERE SLX4 FLI1 COL7A1 WDR60 FREM2 FANCB ACADVL PPP2R3C FANCI FREM1 IL10RB MNX1 PIGN FANCD2 ARVCF LARGE1 TP63 FANCA RIPK4 DVL3 SKI RAD51 FOXF1 TWIST2 EXTL3 XRCC2 UBR1 DPYS MMP1 C2CD3 NDUFB11 PIGO POMT2 UBE2T SUZ12 GP1BB UFD1 PIGV CTNND1 WNT3 DACT1 ICOS FANCM ATN1 ERCC4 CDH11 GATA1 LIG4 NFKB1 CDK8 WNT7A TWIST1 MID1 CCNQ SPINT2 MS4A1 ATP2A2 COMT POR JMJD1C VANGL1 HIRA DKC1 PIGL RAD51C PQBP1 BRCA2 PTDSS1 NSUN2 NAA10 FOXC1 GRIP1 TBX1 WDR34 BRCA1 CHRM3 HOXD13 CCDC22 MKS1 IL10RA MAD2L2 MED12 FANCC SLC25A24 FAT4 DYNC2H1 PIGW TCTN3 MEOX1 RFX6 GABRD FERMT1 TNFSF12 ABL1 CR2 USP9X UPB1 INTU CDC45 NBN SPECC1L SEC24C NFKB2 KIF7 PRKCD SNRPB PGAP3 ISL1 PALB2 KDM6A PGAP2 THOC6 CD96 HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL PIGY CHEK2 CCDC47 ZNF687 SPIB PHEX PGAP2 TCIRG1 HNRNPA1 GPC1 TMEM199 ESR1 SC5D IL12RB1 SIK3 FAM20C TP53 TRPV6 PIGT PIGW TNFRSF11A VCP PGAP3 SLC39A4 PIGA RB1 MMEL1 SGMS2 GPR35 SQSTM1 FGF23 PTH1R SLC34A1 MST1 COG4 SLC2A2 ABL1 PIGS PLEKHM1 IRF5 POU2AF1 LBR CYP2R1 PIGV PIGO CYP7B1 ABCB4 VDR PRKCSH CLCN7 ENPP1 PIGL HNF4A TNPO3 ABCB11 TNFRSF11B ALPL AKR1D1 HNF1B CEBPE TNFSF15 SLC25A13 TCF4 BCR ELMO2 SOST SLC34A3 DMP1 FKBP10 CYP27B1 HNRNPA2B1 IL12A CCDC115 HP_SUPRAVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVALVULAR_AORTIC_STENOSIS ABCG8 ELN LIMK1 RFC2 BAZ1B ABCG5 PCSK9 LDLR FBLN5 GTF2IRD1 APOB CLIP2 MLXIPL LDLRAP1 GTF2I TBL2 HP_MITRAL_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_VALVE_CALCIFICATION IFIH1 FBN1 LMNA GBA HGD HP_PROTRACTED_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRACTED_DIARRHEA RAG1 RFXANK RFXAP CD3E DAXX CD3D ATRX RFX5 RAG2 CIITA MYO5B CD247 SDHD HP_GASTROINTESTINAL_INFLAMMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFLAMMATION RFXANK SPIB NLRC4 SLC6A5 WIPF1 BACH2 GPHN STAT1 LMX1B TCF4 ABCB1 ATAD1 WAS TGFB3 TGFB2 TGFB1 CASP10 XIAP RIPK1 COG6 RASGRP1 PSPH CIITA INAVA GPR35 HLA-DRB1 CDKN1B TTC37 SKIV2L POU2AF1 ARPC1B LRBA RFX5 HLA-B TGFBR2 STXBP1 PHGDH PSTPIP1 NCF4 PGM3 RET CTLA4 MEN1 IL12A IL21 HPS1 MAP3K7 IL10RA FOXP3 RTEL1 IL12RB1 FASLG GLRB NOD2 IL10RB FAS MASP2 IRGM ZAP70 FERMT1 GLRA1 MMEL1 OPLAH MST1 CARMIL2 SLC9A3 PLCG2 SLC2A10 IRF5 TGFBR1 IGHM TNFAIP3 TRAPPC11 TNPO3 IL6 ATP7A RFXAP RPL11 TNFSF15 F13A1 CDKN1A PRKCD CDKN2B SMAD3 ADAMTS2 CDKN2C POLA1 F13B GPIHBP1 HP_INTESTINAL_PSEUDO_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_PSEUDO_OBSTRUCTION MT-CO2 MT-ND6 TWNK ACTG2 BRCA2 MT-TS2 POLG PALB2 MT-ND1 MT-ND4 DMPK BRCA1 RAD21 TP53 KRAS MT-CO3 FLNA MT-CO1 SMAD4 MT-TF MT-TW IDS PALLD MT-TQ CDKN2A MT-ND5 MT-TL1 MT-TH HP_HAMARTOMATOUS_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMATOUS_POLYPOSIS AKT1 PIK3CA BMPR1A SDHC KLLN GREM1 PTCH1 MSH3 SDHB PTEN SMAD4 COMP SEC23B STK11 PTCH2 SUFU USF3 SDHD HP_MULTIPLE_GASTRIC_POLYPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GASTRIC_POLYPS APC ENG BMPR1A TREX1 SMAD4 MSH3 HP_MALNUTRITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALNUTRITION NECTIN1 ACTG2 SAA1 COX4I2 CRLF1 SAR1B HLA-DQA1 TP63 ALDOB POLG DLX4 COL7A1 LIPA BMP4 TYMP NOS1 MMP1 CDH1 MSX1 SLC7A7 MYO5B DLG1 IRF6 HLA-DQB1 ARHGAP29 HP_POOR_APPETITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_APPETITE RHBDF2 KRT10 BRCA2 PCCA SLC25A26 PALB2 RRM2B MGME1 BRCA1 TP53 KRAS POLG ABL1 SMAD4 DAXX TGFB1 ATRX PALLD SLC25A13 PIK3R1 SLC39A4 CDKN2A RUNX1 PCCB BCR NAGS KRT1 TYMP SLC2A2 HP_ECTOPIC_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANUS NXN CDH11 PIGY CCDC22 DACT1 ATN1 FLI1 SLC25A24 CDK8 RECQL4 IFT80 FRAS1 FAT4 WDR60 GDF6 FREM2 SALL1 ACADVL HCCS FREM1 DYNC2H1 PIGW PIGN FGFR2 MEOX1 RFX6 POR MED12 PORCN ZIC3 B3GLCT CHD4 COX7B DVL3 PIGV PIGO DCHS1 WDR35 UBR1 PIGL C2CD3 NDUFB11 GDF3 SUZ12 PTDSS1 ROR2 TBX3 GRIP1 SNRPB PGAP3 MKKS WDR34 PGAP2 SETBP1 WASHC5 HP_PEPTIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEPTIC_ULCER AP2S1 LIMK1 RFC2 BAZ1B MEN1 CISD2 ARID1B CDC73 HPGD GTF2I GNA11 TBL2 PLA2G4A ELN WFS1 CDKN1B CDKN1A SLCO2A1 GTF2IRD1 ERGIC1 CDKN2B CLIP2 CDKN2C HP_ABNORMALITY_OF_THE_PYLORUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PYLORUS PTCHD1 ACSL4 PEX14 ITGB4 CYBA COL18A1 SH2B1 DHCR7 CLCN4 PEX11B PLEC KCNAB2 PEX16 PPP2R5D NCF2 FTSJ1 FLNA DNM2 USP27X UPF3B LAMB3 ITGA6 NPHS1 CRKL NIPBL HNF4A RAB39B HCFC1 PRDM16 NEFH ARHGEF6 PEX1 MYF6 PEX5 ALG13 CXorf56 AGTR2 KANSL1 ADAMTS3 BCR LAMC2 IQSEC2 PIEZO2 PAK3 PEX6 ARFGEF2 HNF1B NEK9 PEX26 NAA10 TBX3 OTC ARX ZNF41 IL1RAPL1 RYR1 FIG4 SMC3 HRAS PEX19 SETD5 ZEB2 CYBB CYBC1 TFAP2A FRMPD4 MAP3K7 BSCL2 ZNF711 BCOR RERE MTMR14 PEX10 FLI1 MED12 DLG3 TMTC3 LAMA3 SYP SERPINH1 PPP2R3C GDI1 RAD21 DMD CAV1 PEX13 ARF1 DHODH SLC9A7 CNKSR2 RPS6KA3 MID2 GABRD CCBE1 VAC14 KMT2A PEX12 MAPK1 BIN1 ERMARD NCF4 SKI SLC2A10 NCF1 HDAC4 CAVIN1 PEX3 FOS TSPAN7 MECP2 USP9X AGPAT2 PEX2 FGFR2 LTBP4 NEDD4L SMC1A MAP1B HDAC8 FAT4 PPARG MTM1 ZNF81 HP_ABNORMAL_NIPPLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NIPPLE_MORPHOLOGY SMS RSPO2 IGF1R PIGY CCDC47 DHCR7 MPLKIP MASP1 PTPRF TUBB INSR FGFR1 KIFBP KRAS A2ML1 TP63 TCF4 COG7 GPC3 SETBP1 KISS1 RRAS2 ALG11 NUP188 TWIST2 PIGL PORCN AMER1 NIPBL GNE B3GLCT GTF2H5 CBL SPRY4 CHRNG TACR3 FGF17 EDA COX7B WASF1 RFT1 ARHGAP31 NFIX KANSL1 SMARCA2 PROK2 FRAS1 UBE2A ADNP TBX3 EDARADD TMCO1 RAB3GAP2 ALG12 FIG4 SMC3 GTF2E2 ACOX1 RNF113A SLC35A2 ALG9 TFAP2A MDH2 ASXL1 COG1 MRAS GPC4 IKBKG GNRHR FREM2 WDR11 LETM1 DHODH MEGF8 RAD21 ANOS1 TRAF7 PIGN KIAA0586 CKAP2L RERE KDM6B KDM1A NRAS KLHL7 RIPK4 ARHGEF2 WAC UBR1 UBA1 GNPTAB KCTD1 SMC1A HNRNPK PMM2 NONO COLEC11 HS6ST1 ACTB SOS2 PNPLA6 PIGV CERT1 RNF216 WNT3 ATN1 CDH11 PPP2R5D TAC3 PIGT PROKR2 RASA2 KIF15 LMNA CHST3 ANTXR1 COLEC10 TCF20 ERCC3 PIGO IBA57 SLC25A46 ERCC6 NELFA NECTIN1 SRY DOLK GRIP1 TRRAP ARCN1 ERCC2 TBL1XR1 DUSP6 EBF3 SOS1 ABCD4 EZH2 OFD1 WASHC5 SETD5 ZEB2 LZTR1 CCDC22 PACS1 PTPN11 NSD2 RAB18 TARS1 CHD7 SLC25A24 GATA4 MAPRE2 WNT7A ERMARD RAF1 PIGW CPT2 EFNB1 VAC14 KMT2A CSPP1 RIT1 CILK1 TFAP2B USP9X INTU HDAC4 GNRH1 DPAGT1 PEX3 RRAS FGF8 NSMF MAN1B1 ZMPSTE24 MAB21L1 PGAP3 HDAC8 KISS1R PGAP2 HP_SPONTANEOUS_RECURRENT_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_RECURRENT_EPISTAXIS ENG ITGB3 MYH9 GP1BB GP9 ACVRL1 ITGA2B SRC GDF2 GP1BA HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL PROKR2 SLC39A14 BAP1 PINK1 DNAJC13 SOX3 CHD7 PROK2 SNCA TERT SMO GBA PLXND1 NSMF ADCY3 FGFR1 LRRK2 DCC SOX9 SOX10 PEX7 ANOS1 TACR3 IFT27 SYNJ1 HESX1 UCHL1 KISS1R FGF8 WDR11 PHYH TAC3 KISS1 ATP13A2 PIK3CA SCP2 CEP290 HS6ST1 SMARCB1 SEMA3E FEZF1 IL17RD PODXL GIGYF2 DUSP6 AKT1 HYLS1 MFN2 PRKN SMCHD1 ARNT2 TSHZ1 ARSL PTCH2 ANK1 FGF17 OTX2 SUFU SEMA3A SHH VPS13C KIF7 DNAI1 PTPN11 PARK7 FOXE3 FLRT3 HTRA2 PDGFB VPS35 CCDC141 SMARCE1 SOX2 EIF4G1 TRAF7 GNRH1 PTCH1 ATP7A SCN9A SPRY4 REV3L NF2 DNAJC6 HP_HYPOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOSMIA SMCHD1 SLC39A14 PINK1 DNAJC13 LRRK2 SNCA PROKR2 NSMF TSHZ1 GBA ADCY3 FGFR1 DCC FGF17 SOX10 SEMA3A ANOS1 TACR3 VPS13C IFT27 SYNJ1 UCHL1 HESX1 FGF8 PTPN11 WDR11 PARK7 FLRT3 HTRA2 ATP13A2 KISS1R IL17RD VPS35 CCDC141 CHD7 SCP2 CEP290 HS6ST1 EIF4G1 SCN9A SPRY4 PODXL GIGYF2 DUSP6 FEZF1 PROK2 PRKN DNAJC6 HP_DEVIATED_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATED_NASAL_SEPTUM EP300 NF1 NONO PAH CREBBP HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY LIFR JAG1 GPC6 LIMK1 RFC2 MGP NOTCH2 KITLG ARHGAP31 RAF1 PPP1CB GTF2I CCNQ A2ML1 MITF RRAS2 POLA1 ELN RASA2 PTPN11 CLIP2 PIGL TTC37 SKIV2L NKX2-5 BGN RPL10 NOTCH1 TGFBR2 KRAS DGCR8 ITPR1 LMNA TMEM94 FADD PAX6 SOS1 TBX1 MYH7 ZEB2 LZTR1 TRAIP SNAI2 ESS2 IFT43 SOX10 DOCK6 MRAS SLC2A10 MLXIPL GATA4 WRN EOGT CRELD1 GATA6 BCOR TBL2 FBN1 BRAF AGGF1 DGCR2 DLL4 STRA6 NAA10 MMP21 EFEMP2 TCIRG1 NRAS DGCR6 FGFR1 UBE2A PIGN PKD1L1 DVL3 RIT1 TNFSF11 EDNRB RBPJ BCL11B BAZ1B TGFBR1 SNX10 WNT4 B3GLCT CBL RRAS CLCN7 FLT4 CRTAP GDF1 LTBP4 GTF2IRD1 SOS2 BMPR2 COL3A1 HP_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_STENOSIS ZEB2 LZTR1 JAG1 MGP PTPN11 GPC6 LIMK1 RFC2 IFT43 NOTCH2 ELN MRAS SLC2A10 MLXIPL GATA4 WRN PPP1CB GTF2I CCNQ GATA6 A2ML1 BCOR TBL2 RRAS2 POLA1 RAF1 NKX2-5 RASA2 NAA10 CLIP2 TCIRG1 NRAS PIGL FGFR1 UBE2A PIGN TTC37 RPL10 SKIV2L RIT1 TNFSF11 BCL11B BAZ1B SNX10 ARHGAP31 WNT4 CBL RRAS CLCN7 KRAS LTBP4 GTF2IRD1 SOS2 SOS1 HP_PRECOCIOUS_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRECOCIOUS_ATHEROSCLEROSIS APOA5 APOB TNXB ABCG8 LMNA LDLRAP1 ABCG5 PCSK9 LDLR HP_INTERMITTENT_CLAUDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_CLAUDICATION ABCC6 AGXT XYLT2 ZMPSTE24 XYLT1 MPL JAK2 TET2 LMNA HP_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOPHLEBITIS HABP2 SERPINC1 PROS1 PROC F2 F13A1 PTEN MTHFR AKT1 HP_RECURRENT_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_THROMBOPHLEBITIS HABP2 F2 SERPINC1 F13A1 MTHFR HP_ARTERIAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_THROMBOSIS SH2B3 PTPN22 IL23R IL12A HLA-B CBS ERAP1 JAK2 PROS1 CALR CCR1 MPL FCGR2C PTEN SERPINC1 KLRC4 AKT1 TET2 MEFV C4A IL12A-AS1 UBAC2 TLR4 TP53 IL10 MYH7 FAS THPO STAT4 HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE PTGIS AVPR2 ADD1 STOX1 AGT GNB3 CYP3A5 ECE1 CORIN NOS3 FLT1 AGTR1 HP_BIPARIETAL_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIPARIETAL_NARROWING SLC16A2 DHCR7 TMEM231 INPP5E TMEM237 TCTN2 HNRNPU TMEM67 SC5D FAM149B1 KIAA0556 CEP41 TCTN3 KRAS GATA4 TUBGCP6 CC2D2A XRCC4 MEIS2 ZNHIT3 NRAS TMEM216 BRAF LIG4 ARMC9 MAP2K2 ANKRD11 RPGRIP1L ARL3 KLHL7 TMEM138 PIBF1 KIF7 TCTN1 MAP2K1 CEP120 OFD1 KIAA0753 NPHP1 CSPP1 CPLANE1 AHI1 ASXL1 MKS1 CUL4B B9D1 KIF1A ARL13B HRAS PTEN CEP290 TUBGCP4 HYLS1 CEP104 MCOLN1 PDE6D KIAA0586 ZNF423 PLK4 CD96 HP_FLAT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FOREHEAD FGFR2 EXT2 COG7 TWIST1 CHST14 LRP5 IL11RA KCNH1 RECQL4 IARS2 B4GALT7 CAMK2G HP_ABNORMALITY_OF_THE_CHEEK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHEEK SNX14 KMT2D SHANK3 CTBP1 KMT2E KLHL7 GDF1 ELMO2 LRP1 SC5D KAT6B STAG2 TCOF1 AFF4 ARID1B EIF2AK3 TCF4 SIX5 UBE3B TBX1 TFAP2A CEP55 CLCF1 MED13L SIX1 B3GLCT HRAS SALL1 SLC29A3 FGFRL1 BMP2 GATA6 SH3BP2 GSC HSPG2 IFT52 FBLN5 CC2D2A EYA1 TXNL4A INTS1 AEBP1 ATP7A SEMA3E KIF1A WDR26 CHD7 GPR101 POLR1D CDK5 TMEM216 SLC26A2 EIF2S3 SPECC1L GATA4 AGL NALCN FBN1 KAT6A TRMT10A GNAS KCNH1 RPGRIP1 SEMA5A EDNRA MAP3K7 ANK1 KRAS MLXIPL PIK3CA AIP TAZ ALDH18A1 FLT4 BRAF PCLO KCNJ2 SOX11 GNAI3 CEP290 LARS1 H1-4 KDM6B JAG1 B9D1 UBE2A RAB23 MAP2K1 CHN1 NAA10 EXTL3 WAC TMEM67 FGFR2 NKX2-5 EXT2 EDN1 RPGRIP1L ASXL1 ZFPM2 BCOR SALL4 MOCS1 LRP5 OCRL IER3IP1 TUBB4A ACTG1 LETM1 FLNA NKX2-6 SH3PXD2B EFEMP2 VPS33A NOTCH2 NRAS EFTUD2 DACT1 CRLF1 CCDC88A PLCB4 KLLN PCNT GPC4 MOCS2 LMX1B ZNHIT3 PPP1R15B ALX3 NSD2 MAP2K2 LMNA ANKRD11 B9D2 IRX5 PSPH WDPCP SF3B4 CYP26C1 MAFB TMEM260 ATP6V0A2 FGF3 AUTS2 PUF60 STXBP1 PAX1 CTNND2 NEK9 CPLX1 POLR1C IDUA CITED2 CSPP1 WDR35 SIM1 WASHC5 TCTN2 CCDC22 DPYD GATA5 ELN KIF11 HNRNPU STX16 WDR19 VPS13B FLNB KIDINS220 TGDS GJA5 XYLT2 PIGN PIGS MITF MKS1 NGLY1 TMEM231 ALX1 KIF7 TMEM107 KDM6A PRMT7 IFT122 SON TBCE TBL1XR1 ACTB TECPR2 GPC3 FGFR1 HP_ELFIN_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELFIN_FACIES GTF2IRD1 INSR CLIP2 ELN LIMK1 RFC2 CYP24A1 GTF2I BAZ1B TBL2 HEPHL1 HP_RECURRENT_VIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_VIRAL_INFECTIONS RFXANK TCIRG1 IL7R DOCK8 RFXAP MCM4 CYBB RMRP CD3D NHEJ1 RAG1 CTPS1 ELANE IL2RG SRP54 CD247 STAT1 UNC93B1 MALT1 RAG2 SP110 EPG5 CD3E BTK UNC119 ZAP70 GATA2 FLI1 NFKB2 CIITA DCLRE1C RNF168 MBL2 MAGT1 IL2RA TYK2 RFX5 IGHM PNP JAK3 PGM3 STK4 ADA GFI1 CD8A HP_AGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGAMMAGLOBULINEMIA SH3KBP1 RFXANK LRRC8A CD79A TCF3 TIMM8A HELLS BLNK PIK3R1 RFX5 IL2RG IKBKB IGHM BTK CDCA7 RFXAP CD79B CIITA IGLL1 HP_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_DYSOSTOSIS SLC25A24 FGFR2 MSX2 PDE4D EFTUD2 POLR1C EDNRA RPS26 ALX4 PRKAR1A HP_CORONAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CRANIOSYNOSTOSIS FGFR3 TWIST1 EFNB1 BPNT2 FGFR1 RAB23 CEP120 IL11RA SEC24D CCBE1 FGFR2 SLC25A24 ALX4 ZIC1 RECQL4 POR MSX2 P4HB GTF2E2 POLA1 MASP1 HP_SAGITTAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SAGITTAL_CRANIOSYNOSTOSIS DPF2 GLIS3 FGFR2 RAB23 IL11RA IFT43 IFT122 CDC45 KRAS SON TBC1D24 WDR19 ZIC1 RECQL4 DPH1 HP_LAMBDOIDAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS FGFR2 TWIST1 RAB23 IL11RA POR SEC24D ERF ZIC1 BMP4 RECQL4 MASP1 HP_SPHEROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPHEROCYTOSIS SLC4A1 EPB42 SPTA1 ANK1 SPTB HP_ELLIPTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELLIPTOCYTOSIS EPB41 NHLRC2 TRNT1 SPTA1 GATA1 GYPC ACSL4 KCNE5 SPTB AMMECR1 SLC4A1 HP_STOMATOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATOCYTOSIS EPB41 SLC4A1 GYPC RHAG GP1BA SLC2A1 ABCB6 SPTB ABCG8 ERF SPTA1 HP_POIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILOCYTOSIS PANK2 G6PD RHAG ACSL4 JAK2 PKLR SPTB C15orf41 AMMECR1 SC5D GP1BA EPB42 ANK1 CASK KCNN4 KIF23 STEAP3 SLC4A1 ADAMTS13 SPTA1 NHLRC2 KCNE5 EPB41 ABCB6 PIEZO1 XK CDAN1 TRNT1 CALR VPS13A MPL UMPS MTTP CAD SAR1B CRIPT CFH APOB GATA1 GYPC CFHR1 CYP4F22 MPIG6B SLC2A1 ABCG8 ERF CFHR3 TET2 TMPRSS6 HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES TFAP2A GDF6 POU3F4 COL1A1 SIX5 GJB2 SIX1 NOG COL1A2 EYA1 PSMD12 GJB6 NOTCH3 BPTF SETBP1 HP_DILATATED_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATED_INTERNAL_AUDITORY_CANAL POU3F4 GJB2 EYA1 SIX1 GJB6 HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX BMS1 PLEC DLL4 MCTP2 ITGB4 HP_PROGRESSIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MACROCEPHALY GFAP NDUFS4 PIK3CA AKT1 PTEN HP_RELATIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RELATIVE_MACROCEPHALY SNX14 POLE CUL4B OBSL1 CEP120 RIT1 NF1 XYLT1 ITCH BGN PCGF2 ACER3 FH TONSL SERPINH1 ACAN PTDSS1 DHCR24 THRA APC2 APC POLR3A NXN NONO IHH SON BRAF IGF2 TRIP11 POP1 USP7 IFT81 DPH1 HP_CRANIOFACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_ASYMMETRY FGFRL1 CTBP1 LETM1 CPLX1 NSD2 MAF HP_CESSATION_OF_HEAD_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CESSATION_OF_HEAD_GROWTH EIF2B4 EIF2B5 EIF2B1 PLAA EIF2B3 EIF2B2 HP_MACROCEPHALY_AT_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCEPHALY_AT_BIRTH MTMR14 MYF6 DNM2 RYR1 BIN1 PIGN HP_CALVARIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_HYPEROSTOSIS IDUA COL1A1 SLC39A14 AKT1 PTEN VCP HNRNPA2B1 HNRNPA1 COX4I2 PRKAR1A HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES SETBP1 ACE ZMPSTE24 RBM10 CYP2R1 POLR3A ALPL REN LMNA PEX1 VDR MED12 SLC34A3 CYP27B1 AGT MSX2 AGTR1 HP_CRANIOFACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_HYPEROSTOSIS TONSL PTDSS1 SMAD4 SLC29A3 KRAS GNAS NOTCH3 DDB2 FGFR1 TNFRSF11A XPC GJA1 XPA ERCC3 MAP3K7 LRP4 GJB6 AKT1 ERCC4 ERCC5 RPS6KA3 TBXAS1 SOST ANKH ABCC9 ERCC2 LRP5 FLNA AMER1 TCIRG1 HP_PANCREATIC_ISLET_CELL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA GPC3 INSR DIS3L2 ABCC8 KCNJ11 FAH GPC4 SLC16A1 UCP2 HNF1A HNF4A LBR HP_SCARRING_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING_ALOPECIA_OF_SCALP COL17A1 PLEC LAMB3 LAMC2 ITGB4 EBP MBTPS2 GJB2 COL7A1 RHOA MMP1 CLDN1 LAMA3 HP_SEVERE_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_PLATYSPONDYLY PAM16 COL2A1 PCYT1A EXTL3 INPPL1 FGFR3 HP_BEAKING_OF_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEAKING_OF_VERTEBRAL_BODIES GORAB FUCA1 GLB1 NPR2 FLNB COL2A1 COL11A2 SERPINF1 SH3PXD2B COMP GNPTAB AGA GUSB DYM RSPRY1 TMCO1 PYCR1 HP_INCREASED_VERTEBRAL_HEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VERTEBRAL_HEIGHT FGFR3 CUL7 CCDC8 OBSL1 MAN2B1 PPP1R15B TRPV4 NOTCH2 HP_SCLEROTIC_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROTIC_VERTEBRAL_ENDPLATES CCN6 SOST DMP1 ENPP1 CLCN7 HP_BICONCAVE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICONCAVE_VERTEBRAL_BODIES IDUA GORAB NOTCH2 COL1A2 MBTPS2 CBS NOTCH3 IFITM5 TENT5A SERPINF1 USP8 NANS TONSL KIF22 ZBTB20 COL1A1 AIP FKBP10 PYCR1 HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES BMPER FLNB DYNC2H1 COL2A1 ALPL WDR35 TRIP11 WDR34 IFT80 SLC26A2 WDR60 SOX9 LBR HP_CERVICAL_C2_C3_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION GDF3 MEOX1 AFF4 GDF6 DKK1 HP_LUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_SCOLIOSIS NIN TBC1D24 COL2A1 LONP1 ATRX PAPSS2 HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES PLEC FHL1 LMNA TMEM43 EMD SYNE2 SYNE1 HP_DECREASED_CERVICAL_SPINE_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_MOBILITY CCN6 POMT2 GLI2 LHX4 POMT1 HESX1 PROP1 OTX2 FOXA2 GMPPB POU1F1 FKRP LARGE1 HP_DECREASED_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FACIAL_EXPRESSION MAPT MRE11 PDGFRB CERT1 GLE1 DNAJC13 SLC6A8 TWNK SNCA FRG1 GBA ACTA1 PLXND1 ADH1C PANK2 PDGFB SNCAIP LRRK2 ATXN2 SLC6A9 PABPN1 DNMT3B NEB ATP13A2 CC2D1A DPM2 PIEZO2 TBP SLC30A10 SPR RRM2B ATXN8OS MYH7 TH PLA2G6 HOXB1 TRIM32 SLC18A2 STAC3 PLAA MSTO1 HSPG2 MTM1 TPM2 TXNL4A RYR1 SLC6A3 SMCHD1 NR4A2 ATP7A DUX4 ITPR1 ATP1A3 GIGYF2 CCDC174 PRNP VAMP1 EBF3 FKTN PAX6 MYH2 GMPPB ATP6AP2 KCNH1 SGCB POLG MYL1 KCNK9 FBXO7 HLA-DQB1 TAZ SLC20A2 ATP6V1A KMT2D DNAJC6 DCTN1 TANGO2 FTL FMR1 MYH3 TK2 GFM2 PURA FA2H LRP12 SLC52A3 LAMA2 SLC39A14 DNA2 POLG2 BCL11B UBE3A VPS35 KCNJ6 PODXL EIF4G1 JAM2 UBA5 SYNJ1 TPM3 KDM6A ASXL3 REV3L TECPR2 SLC25A4 KLHL41 UBA1 SPTBN4 GLUD2 HP_TALIPES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_VALGUS LIFR CHMP1A SCN1B GABRD SCN1A HCN1 SCN2A NONO SCN9A GABRG2 MAN2B1 RAB3GAP2 ADGRV1 STX1B HP_SHORT_FOURTH_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOURTH_METATARSAL PEX7 PIGS PHYH RSPRY1 PRMT7 FAT4 EZH2 DCHS1 HP_2_3_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_TOE_SYNDACTYLY PTCHD1 ACSL4 PIGY CERT1 FRMPD4 SHANK3 DHCR7 SLC12A6 ZNF711 NIPBL TRIO CLCN4 GNE DLG3 TBX15 SYP FTSJ1 BCOR CLCF1 SIK3 CTCF USP27X PSMD12 GDI1 RBPJ NEDD4L DMD UPF3B SETD5 POLR3A FGFR2 SLC9A7 CNKSR2 RPS6KA3 DDX11 MID2 MED25 SALL1 RAB39B HCFC1 KCTD1 MYCN EBP GDF5 RAI1 NOG IL11RA ARHGEF6 BMP2 TBCK CDC45 SOX5 BHLHA9 TTI2 FGFR1 BMPR1B ALG13 CXorf56 AGTR2 TSPAN7 TXNL4A LMBR1 IQSEC2 CEP55 SMAD4 MECP2 SYT1 MAN1B1 PAK3 USP9X ADNP TP63 ARX ARCN1 MED12 STAG1 ZNF41 MEIS2 IL1RAPL1 HOXD13 PUF60 ZNF81 HP_4_5_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_4_5_TOE_SYNDACTYLY MYCN TELO2 TBX15 HOXD13 RBBP8 HP_RENAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MALROTATION STRA6 PAX2 SALL4 FIBP RBM8A SIX1 EYA1 HP_HYPERECHOGENIC_KIDNEYS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERECHOGENIC_KIDNEYS CSPP1 DZIP1L CILK1 KIF14 KIAA0586 TCTN2 SLC30A9 PBX1 BICC1 INVS SARS2 REN HP_THICKENING_OF_THE_GLOMERULAR_BASEMENT_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENING_OF_THE_GLOMERULAR_BASEMENT_MEMBRANE COL4A3 CFH COL4A5 GATA3 DGKE COL4A4 CEP83 HP_CALCIUM_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIUM_NEPHROLITHIASIS SLC6A20 AGXT SLC36A2 HOGA1 SLC6A19 SLC26A1 SLC34A3 OPLAH ADCY10 GRHPR HP_RENAL_CORTICAL_MICROCYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_MICROCYSTS NEK8 TTC37 INVS PEX2 PEX1 HP_CROSSED_FUSED_RENAL_ECTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CROSSED_FUSED_RENAL_ECTOPIA WT1 LRP4 SALL4 KMT2D APC KDM6A DACT1 DDX59 HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY EFEMP2 TP63 PIGY FANCC FANCA JAG1 TELO2 FANCD2 KDM6A EYA1 RTTN FANCE FBLN5 PIGA POGZ IARS1 PIGL SIX1 TNXB PIGN KMT2D HP_ATRIAL_FLUTTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_FLUTTER CLIC2 TNNI3K SCN5A DMPK ACADL GATA4 MT-CYB SGO1 NR2F2 LMNA GATA6 NUP155 SCN3B CRELD1 HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA KCND3 SLMAP SCN2B SCNN1A TRPM4 RANGRF CACNA1C KCNE3 SEMA3A GPD1L GNAI2 JUP ABCC9 SCN5A SCN1B HCN4 PKP2 SCN10A SCN3B AKAP9 KCNE5 CACNB2 CACNA2D1 KCNJ8 HP_SUPRAVENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_TACHYCARDIA KCND3 SLMAP SCN2B SCNN1A TRPM4 SCN5A MT-CYB ACTN2 RANGRF FLAD1 CACNA1C DNMT3A KCNE3 SEMA3A GPD1L DMPK ABCC9 CACNA1S LMNA PRKAG2 RYR1 TNNI3K SCN1B BMP2 HCN4 PKP2 SCN10A MYL2 SCN3B AKAP9 KCNE5 SLC19A2 CACNB2 CACNA2D1 NAA10 KCNJ8 HP_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_TACHYCARDIA SLMAP TRPM4 SLC12A3 JUP MT-CYB CALM2 RANGRF CASQ2 CACNA1C KCNE3 CSRP3 ABCC9 TRDN ACADVL SCN5A RYR1 TECRL TANGO2 RYR2 SCN1B HCN4 SCN10A SCN3B CALM3 AKAP9 KCNE5 CACNB2 NAA10 SLC25A20 CTNNA3 KCND3 SCN2B SCNN1A DSP HLA-DRB1 SEMA3A NDUFB11 GPD1L TMEM43 JPH2 GNAI2 CACNA1S TTN BTNL2 CALM1 PKP2 MYL2 DSG2 CACNA2D1 TPM1 GYG1 KCNJ8 MYOZ2 HP_PAROXYSMAL_ATRIAL_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_ATRIAL_FIBRILLATION KCNA5 KCNJ2 PRKAG2 SCN1B TBX5 SCN2B MYL4 CSRP3 ABCC9 KCNJ5 KCNE2 SCN5A HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA PRKAG2 TNNI3K BMP2 SLC19A2 SCN5A HP_ESOPHAGEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ULCERATION JUP PLA2G4A DSP ASCC1 MSR1 CTHRC1 HP_MALROTATION_OF_SMALL_BOWEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALROTATION_OF_SMALL_BOWEL WNT4 FGFRL1 CHST14 CTBP1 LETM1 CPLX1 NSD2 DSE HP_GASTROINTESTINAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_OBSTRUCTION EFEMP2 FOXP3 SDHB KIT SLC6A8 TBCE SOX10 BRCA2 RET FAH PALB2 MEFV MITF ECE1 STK11 PDGFRA MVK EDN3 EDNRB KRAS APC SDHD HMBS NOD2 SMAD4 TNFRSF1A SEMA3C CTLA4 MNX1 FCGR2A JAK2 CTNNB1 TGFB1 NRTN INHBA MYC SDHA PDGFRB F5 EWSR1 FBLN5 CAVIN1 NOTCH3 SDHC WT1 BRCA1 C12orf65 TP53 CD55 SEMA3D IL6 HLA-DPB1 HLA-DPA1 PTPN22 ERCC2 GUCY2C CFTR PALLD CDKN2A GDNF JAK3 PRTN3 HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT SH3KBP1 VPS33A TCIRG1 STOX1 RFXAP NBN ELANE ADAT3 SRP54 MAN2B1 FOXP3 COG4 FLT1 CD3G SP110 AICDA IFNGR1 TNFRSF13B RFXANK JAK3 CORIN RFX5 DCLRE1C ZAP70 CD3E NFKBIA POLA1 CIITA GFI1 HP_CONGENITAL_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEMOLYTIC_ANEMIA EPB41 CPOX SLC4A1 KCNN4 SPTB PIEZO1 GYPC PKLR SPTA1 HP_ACUTE_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_MYELOID_LEUKEMIA CHIC2 LPP TCIRG1 SRSF2 KIT MLLT10 KRAS DNMT3A PICALM DNAJC21 TERT TET2 FLT3 RPS14 ELANE ASXL1 JAK2 CEBPA SRP54 MPL RUNX1 GATA2 DKC1 NPM1 CBFB SH3GL1 SF3B1 SBDS DDX41 ERBB3 BRCA2 ETV6 PIGA NUP214 THPO EFL1 GFI1 HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA IFIH1 GP1BA TREX1 RNASEH2A SAMHD1 GP1BB RNASEH2C ITGA2B ITGB3 CD109 ADAR RNASEH2B ITGA2 HP_ANISOPOIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOPOIKILOCYTOSIS STEAP3 SC5D CAD CRIPT MPIG6B KCNN4 HP_HYPOCHROMIC_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA TRNT1 LPIN2 SHPK HBA2 ALAS2 DNAJC19 ATRX ABCB7 TMPRSS6 HBA1 HBB HP_REDUCED_FACTOR_XII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XII_ACTIVITY MAP2K1 F12 PTPN11 MGAT2 BRAF HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA CASP10 RASGRP1 FAS FASLG PRKCD TNFRSF4 HP_PROLONGED_BLEEDING_AFTER_SURGERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_SURGERY F13B GP1BB F8 GP9 F13A1 LMAN1 F7 P2RY12 ITGB3 F10 VWF ITGA2B MCFD2 F5 GP1BA HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA MAP2K1 MECOM PTPN11 HOXA11 MPL BRAF HP_CHRONIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEMOLYTIC_ANEMIA HBB NHLRC2 ABCG8 PKLR TPI1 SPTB HP_PERINEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERINEAL_FISTULA SALL1 KMT2D KDM6A DACT1 TCTN3 CDK8 RECQL4 HP_EPISODIC_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_RESPIRATORY_DISTRESS MT-TL1 MT-ATP6 MYO9A SLC5A7 MT-ND1 SYT2 MT-ND3 VAMP1 COL13A1 SLC18A3 MT-TK AGRN MT-TV MT-TW MT-ND5 SLC25A1 MT-ND4 MT-ND6 MT-ND2 SNAP25 CHAT HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION MT-TE TBK1 SMPD1 TRMU TSEN54 AHDC1 TICAM1 BCHE GNPTAB TK2 MTM1 TLR3 CSF2RA TBCD TRAF3 DMPK NDUFAF8 CSF2RB UNC93B1 IGHMBP2 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 SLC5A7 SELENON SYT2 CHRNA1 TTN VAMP1 COL13A1 MYH7 SLC18A3 AGRN SLC25A1 SNAP25 CHAT HP_STRESS_INFECTION_INDUCED_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRESS_INFECTION_INDUCED_LACTIC_ACIDOSIS UQCRFS1 SDHAF1 SDHD NADK2 SDHA HP_SEVERE_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_LACTIC_ACIDOSIS SLC25A26 MT-TE MT-TT COQ2 TRMU PDSS2 PDHA1 HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG CEL HNF4A HNF1A NEUROD1 HNF1B GCK KCNJ11 APPL1 PDX1 BLK INS KLF11 PAX4 HP_LOW_LEVELS_OF_VITAMIN_A http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_A FARSB GPR35 MST1 BCO1 TCF4 HP_HYPOPHOSPHATEMIC_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIC_RICKETS NRAS ENPP1 PHEX HRAS KRAS STAT6 FAH NAB2 ABCC6 SLC34A3 CTNS DMP1 FGF23 HNF4A CLCN5 HP_ABNORMAL_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAGNESIUM_CONCENTRATION TBCE AP2S1 FXYD2 SLC12A3 CNNM2 KCNJ18 GNA11 TRPM6 KCNJ1 PLVAP CLDN16 GCM2 CASR CLDN19 KCNJ10 FOXP3 SARS2 ALDOB CACNA1S ATP1A1 EGF CLCNKB SLC12A1 CLDN10 GABRA3 HP_HYPERPHENYLALANINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHENYLALANINEMIA GCH1 PAH PCBD1 PTS QDPR HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE BLK HSD3B2 HNF1A GCK APPL1 SLC5A1 ABCC8 CEL PDX1 NEUROD1 HNF4A PAX4 KCNJ11 INS KLF11 HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION GSN COQ2 DNAJC13 GIGYF2 LEPR SNCA LMNB1 ARSA B2M PSAP TTR GBA VPS35 LEP LRRK2 EIF4G1 HP_PULMONARY_ARTERY_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_DILATATION TGFBR1 BGN EFEMP2 FBN1 COL3A1 TGFBR2 HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE RIPPLY2 LIFR PORCN JAG1 GPC6 LIMK1 RFC2 MGP NOTCH2 KITLG ENG ARHGAP31 CITED2 RAF1 PPP1CB GTF2I CCNQ A2ML1 DHCR24 MITF HES7 RRAS2 POLA1 LFNG ELN RASA2 PTPN11 GATA6 CLIP2 PIGL VHL MYRF TTC37 SKIV2L NKX2-5 GATA4 CDC42 TMEM260 BGN RPL10 NOTCH1 TGFBR2 KRAS DGCR8 FOXC2 ITPR1 ACVRL1 LMNA TMEM94 MESP2 FADD DLL3 PAX6 SOS1 TBX1 MYH7 EIF2AK4 ZEB2 RSPO2 LZTR1 TRAIP SNAI2 TBX5 ESS2 CCND1 WNT3 IFT43 SOX10 DOCK6 BMPR2 MRAS SLC2A10 MLXIPL WRN EOGT CRELD1 BCOR TBL2 FOXF1 FBN1 BRAF AGGF1 DGCR2 NR2F2 DLL4 WT1 STRA6 NAA10 MMP21 EFEMP2 TCIRG1 NRAS DGCR6 RPS15A FGFR1 UBE2A PIGN PKD1L1 DVL3 RIT1 TNFSF11 EDNRB RBPJ BCL11B BAZ1B TGFBR1 SNX10 WNT4 B3GLCT CBL RRAS CLCN7 FLT4 CRTAP GDF1 SMAD4 LTBP4 GTF2IRD1 SOS2 COL3A1 HP_ASCENDING_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_AORTIC_DISSECTION TGFB3 ACTA2 TGFBR1 SMAD4 PRKG1 MAT2A SMAD3 TGFBR2 FBN1 MFAP5 NKX2-5 TGFB2 SMAD6 LOX FOXE3 MYH11 NOTCH1 ELN GATA5 MYLK HP_PULMONARY_ARTERY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ATRESIA PKD1L1 DGCR8 DVL3 NKX2-5 ESS2 RBPJ GDF1 TMEM94 DGCR2 DOCK6 DLL4 STRA6 FADD MMP21 ARHGAP31 NOTCH1 DGCR6 EOGT TBX1 CRELD1 FLT4 HP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_THROMBOSIS IL12A CASR FGA PGM1 JAK2 PTEN SERPINC1 PIGM PTH1R GDF2 TET2 IDH1 MEFV IL12A-AS1 CTLA4 PDGFRA IL10 IDH2 THPO GNAQ CPA1 FGG STAT4 SH2B3 KCNN4 IL23R MTRR CBS ERAP1 SAA1 PROS1 SMAD4 PLAT CALR CCR1 MPL ACVRL1 F2 PROC KLRC4 AKT1 CDH23 SPINK1 CTRC PTPN22 TP53 PRSS1 HBB THBD EPOR PRTN3 PRSS2 HLA-B SERPIND1 PRKAR1A KIF11 PDE4D F9 C4A AGGF1 UBAC2 PIEZO1 F13A1 CFTR HABP2 FGB MTHFR ENG CD55 HLA-DPB1 SLC4A1 HLA-DPA1 NOTCH1 MET TLR4 CTNNB1 PMM2 F5 USP8 FAS HP_PULMONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ANEURYSM TGFBR1 BGN EFEMP2 COL3A1 TGFBR2 HP_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ANEURYSM EFEMP2 ROBO4 CHST3 LIMK1 RFC2 BICC1 FLNB TSC2 KCNAB2 FBN1 FBN2 AFF4 GANAB GTF2I SMAD3 MFAP5 PTEN C12orf57 TGFBR3 TGFB2 ELN ACTA2 SMAD6 MLX LOX CLIP2 IL12B CRKL MYLK PRDM16 TPM2 TGFB3 FMR1 FBLN5 MYPN DNMT3A RIN2 PKD2 KANSL1 PRKG1 ADAR BCR AEBP1 TGFBR2 TPM3 IFIH1 COL5A1 ARFGEF2 SEMA3E SAMHD1 COL3A1 LMNA TGFBR1 CHD7 PKD1 COL1A2 CYP17A1 MYH11 COL1A1 HGD NKAP FLNA B3GAT3 POR ENG RERE TAB2 KCNH1 ZMPSTE24 SMAD4 TMTC3 SLC25A24 TSC1 CHRNG TBL2 ALDH18A1 TREX1 HLA-B NKX2-5 RNASEH2C ARF1 NOD2 GABRD NOTCH1 MAPK1 ERMARD PIGN BRF1 COL5A2 SKI SLC2A10 PTPN22 RAI1 RNASEH2A BAZ1B NSMCE2 ANGPTL6 RNASEH2B MAT2A CYP11B1 NEDD4L GTF2IRD1 FOXE3 MAP1B THSD1 GATA5 MED12 MYH3 HP_ACCELERATED_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_ATHEROSCLEROSIS ABCC6 XYLT2 CYP7A1 LMNA ABCA1 APOE XYLT1 HP_DILATATION_OF_THE_CEREBRAL_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_CEREBRAL_ARTERY GAA FARSB GGCX TGFB3 ACTA2 BICC1 ENG ANGPTL6 SMAD3 TGFBR1 PCNT GANAB BGN SMAD4 COL4A1 PKD2 PRKG1 STAT1 MAT2A TGFBR2 COL3A1 FBN1 MFAP5 TGFBR3 TGFB2 PLOD3 PKD1 PRKAR1A LOX FOXE3 THSD1 MYH11 ELN MYLK HP_ARTERIOVENOUS_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_FISTULA SMAD4 EPHB4 ENG RASA1 ACVRL1 AGGF1 COL3A1 GDF2 HP_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_TORTUOSITY NT5E MT-ND6 TGFB2 TGFBR1 APP TGFBR2 MT-ND5 MT-ND4 MT-CYB FBLN5 SMAD3 MT-CO3 NEK1 SELENOI MT-ND1 MT-ND4L EFEMP2 SLC2A10 MT-ATP6 ATP7A MT-ND2 HP_PERIPHERAL_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_ARTERIAL_STENOSIS AGXT TGFB3 ACTA2 PCSK9 LDLR APOB JAK2 SMAD4 MPL PRKG1 MAT2A SMAD3 FBN1 MFAP5 ABCG8 TGFBR1 TGFB2 ELN ABCC6 ABCG5 LMNA LOX FOXE3 TGFBR2 MYH11 APOE LDLRAP1 THPO MYLK HP_DESCENDING_THORACIC_AORTA_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESCENDING_THORACIC_AORTA_ANEURYSM FBN1 MFAP5 TGFB3 ACTA2 TGFBR1 TGFB2 LOX FOXE3 TGFBR2 MYH11 ELN SMAD4 PRKG1 MYLK MAT2A SMAD3 HP_THORACIC_AORTA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTA_CALCIFICATION IFIH1 NOTCH1 NKX2-5 GATA5 SMAD6 HP_CALCIFICATION_OF_THE_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_THE_AORTA IFIH1 TREX1 NKX2-5 RNASEH2A ABCG8 SAMHD1 SMAD6 RNASEH2C ABCG5 PCSK9 LDLR APOB NOTCH1 GATA5 GBA LDLRAP1 ADAR RNASEH2B HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS TTC37 SKIV2L JAG1 ELN LIMK1 RFC2 IFT43 BAZ1B MGP NOTCH2 GTF2IRD1 CLIP2 MLXIPL PIGL PPP1CB GTF2I CCNQ FGFR1 UBE2A BCOR PIGN TBL2 HP_ASCENDING_TUBULAR_AORTA_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM BRF1 COL5A2 COL5A1 HLA-B FBN1 ACTA2 FMR1 MLX LMNA FBLN5 SMAD3 TGFBR1 ZMPSTE24 IL12B COL1A1 COL3A1 MED12 TGFBR2 HP_ELEVATED_MEAN_ARTERIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE PTGIS ADD1 AGT GNB3 CYP3A5 ECE1 NOS3 AGTR1 HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS ABCC9 PLEKHM1 CLCN7 TCIRG1 ANKH GBA PSAP HP_KNEE_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_DISLOCATION FLNB RYR1 CHST3 B3GAT3 SLC35A3 SLC10A7 EXOC6B AEBP1 HP_METAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_SCLEROSIS ACP5 MMP13 COL2A1 SBDS CENPE NR5A1 CTC1 KIF22 SRP54 DNAJC21 HP_RHIZOMELIC_ARM_SHORTENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIC_ARM_SHORTENING FZD2 MYSM1 CSPP1 KIAA0586 SLC26A2 GPX4 DYM HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS CDC6 IFT140 COL11A2 CHST3 SMARCAL1 COL2A1 ADAMTSL2 EXTL3 KIF22 PLOD3 MATN3 TRAPPC2 HP_DIAPHYSEAL_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_THICKENING IDUA RMRP LRP4 SHOX SOST SLC35D1 PTDSS1 TBXAS1 GUSB INPPL1 COL10A1 LRP5 LBR HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES TRPV4 VAC14 NOG FIG4 KCNH1 SOX9 HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS FGFR3 FGFR2 TWIST1 HOXA11 CHSY1 HP_SYNOSTOSIS_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPAL_BONES NXN BMPR1B NOG EVC2 BHLHA9 GDF5 ESCO2 FLNA MAP3K7 GLI1 LRP4 SALL4 PAX3 EVC HOXA13 SMOC1 ROR2 FGFR2 COL11A2 PITX1 APC DYNC2LI1 MACROH2A1 HP_HYPEREXTENSIBILITY_AT_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_AT_WRISTS PYCR2 COL6A1 COL6A3 COL6A2 COL12A1 HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT SMPX LMX1A RPGR GJB3 MYH9 AP1S2 DSPP HP_ABNORMAL_NASAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MORPHOLOGY SMARCAL1 GLI3 CAMTA1 CLCN4 NHEJ1 INSR FRMD4A KRAS AMMECR1 ARID1B PTEN REEP6 KIAA1549 TCF4 GPC3 CLP1 CC2D2A SIX3 RPL5 MOGS ATRX ADSL TMEM138 MED25 BPNT2 KCNH1 LTBP3 GJA1 COX7B CACNA1G ARHGEF6 KMT2A ADAMTS18 TGIF1 SHOC2 RDH12 HCCS SF3B4 WDR35 COL11A2 NFIX EXT1 NCAPG2 SEC23A EMG1 DGCR8 B9D1 MED12 FGFR1 HDAC6 ARX DYNC1I2 HRAS TBX1 SETBP1 RAI1 TFAP2A CEP57 PTCH1 PIGQ XRCC4 CHST14 CEP120 ESS2 SLC7A14 INPP5E GATAD2B HDAC8 CKAP2L ESCO2 TCTN2 PEX12 OCLN MITF AGBL5 TAB2 DVL1 INPPL1 SMARCB1 BRAF AGA RAD21 COL2A1 BUB3 CASK NALCN MBD5 BEST1 RPS28 SLC26A2 RPS6KA3 ARL3 COL11A1 AKT3 PSMB8 TRIP11 KDM1A DGCR6 DSE BRF1 VARS1 RAB18 TCTN1 DOCK3 CHD3 TAF1 TBC1D20 MPLKIP ABCC8 CCDC8 NKX2-5 OFD1 FBXL3 NTNG1 HYMAI ZFPM2 FGF8 SALL4 FGFR2 ZSWIM6 PIK3R2 DCAF17 ARL13B ACTL6B GATA6 WNT5A NEXMIF ALX4 ATAD3A CEP104 ARL6 GTF2IRD1 LARP7 UFD1 TDGF1 CDHR1 KIAA0586 SH3PXD2B AP4B1 PIGY RAC1 FLNB SMARCD1 CNGA1 DHDDS TRIO ERCC6 GPC4 RNF13 TONSL PPP2R5D FREM1 LFNG SUMF1 ALX3 ALG13 ARMC9 NEK2 ANKH ANKRD11 EXTL3 DEAF1 SIN3A MAK CUL7 PDE4D CLIP2 ERCC2 BBS2 COMT PLK4 ACTG2 PIGP TWIST1 NPR2 PLAA EFTUD2 MAFB ITGA3 C8orf37 ATP6V0A2 DNMT3B NANS HIRA BCR CEP41 TBCK IQSEC2 AKT1 PLA2G6 RNF125 CERKL CRIPT TMEM94 MN1 GNAO1 LMBR1 WDR34 ATP6V1B2 ZNF41 COG6 RERE TBC1D24 TMCO1 GATA5 TRPS1 KCNK9 ZMPSTE24 GRIP1 ARSL FGD1 RPS17 PPP2R1A GATA4 SYP PACS1 PRPF4 NODAL GJA8 DYNC2H1 KCNA1 TUB MYH3 TTC8 DGCR2 SLC9A7 CHSY1 KIAA1109 NAA10 HECW2 RPL35A PBX1 HUWE1 PIGN PIGT COL5A2 PIBF1 BLM ABL1 RPL31 PLEC RPL15 NOG SLC35C1 HGSNAT EIF2S3 ALX1 PEPD EYA1 PDHA1 KIAA0556 PRKAR1A BCL11B TAPT1 NBN KDM5B DLL1 RPL27 ARHGEF18 IFT122 NR2F1 PMM2 ITGB6 RP1 RECQL4 PEX16 THOC6 PDE6D ABCC9 SOX4 RNU4ATAC DHCR7 RAB3GAP1 GPC6 MASP1 ACSL4 MYO18B SC5D STXBP1 AIFM1 TCTN3 NF1 MAPK8IP3 HES7 GUCA1B PDE6G BRCA1 PGAP3 QRICH1 CPLANE1 RPS26 HCFC1 ERCC1 FZD2 MEF2C ADAMTS3 EDA IDH3B PUF60 GMNN HYOU1 PUS1 RPS29 CANT1 SLC9A6 TXNL4A PEX13 RREB1 TWIST2 LAS1L PDE6B PEX11B AP4M1 UBE3B BMP2 PAH TUBGCP4 NACC1 SCN2A RPS10 RSPRY1 DCPS ALG12 ACTB FBN1 PEX1 ALG9 SPATA7 TRMT10A NXN SLC12A6 COG1 MAP3K7 RPS7 ADGRG6 WDR60 FLT4 MECP2 PPP2R3C PSMD12 KAT6B SHH KCNJ2 BCOR RPGR CNKSR2 DISP1 ERCC5 GNPAT JAG1 RIPK4 LRP2 POLE DVL3 GDF5 PEX2 BAZ1B PAFAH1B1 ATIC DOCK7 UBA1 PTH1R AP1S2 MKS1 PIGO EXOSC2 TLK2 TBX4 UBR1 RBBP8 GP1BB NONO COLEC11 ERF ACTG1 PTCHD1 CERT1 CRLF1 PGAP2 ATN1 SOX10 PCNT EYS SLC17A5 ADAT3 SRD5A3 TP63 RGR WDR19 ALG3 CENPJ YWHAE PAX3 EXT2 SMC3 MAP2K2 HYLS1 APC MPDZ KIF15 PEX5 WDR26 ERGIC1 IRX5 CRKL ZNHIT3 FAM20C ECEL1 INS AP4S1 COLEC10 HOXB1 KLHL7 NECTIN1 PIGV TAF6 SMC1A IFT43 FH RLIM PIGL GBA DIS3L2 PAK3 SPART CDC42 TMEM67 IDUA DLL3 CD96 USH2A POC1A FLII RP2 RPGRIP1L SETD5 OTUD6B FRMPD4 CCDC22 IFT172 PNKP POR PRPS1 KIF11 POGZ POU1F1 TFAP2B FAM161A RPE65 PPP2CA EDNRB ALDH6A1 ASXL2 ATP6V1A CTCF HIC1 DHCR24 DHX37 PIGW DMD PHIP MAN1B1 LRAT CDK10 SMARCA4 ATP6V1E1 MERTK RPS19 AHI1 BPTF POMGNT1 KIF7 CUL4B NDUFB11 BUB1B SLX4 NFIB MAB21L1 STIM1 SETD2 PIGG SCN1B ANTXR1 TBL1XR1 CRB1 ZNF81 PPM1D SMS CCDC47 PDGFRB TMEM231 LIMK1 FMR1 GJA5 MRAS KLHL15 PRRX1 KIFBP AFF4 PRPF6 FOXG1 KCNJ11 CCNK COG7 SLC6A9 ELN FOXH1 DPM2 ATR MED13L PORCN POLR1A RAB39B KIF14 CLIC2 KMT2B FUT8 CDKL5 ZNF408 DYRK1A ACY1 KANSL1 ERCC8 AP4E1 PIEZO2 KIF1A ROR2 HMGA2 EP300 TRIP12 MCOLN1 SPECC1L IL1RAPL1 SNIP1 DENND5A SHANK3 SLC25A22 SMARCA2 MMP2 MGP SRCAP VPS33A HSPA9 WDR4 MYMK ZC4H2 FLI1 AGL OTX2 FRAS1 EDN3 GAS1 C2CD3 PLAGL1 PQBP1 CDKN1C MEGF8 SKI MIR140 UNC80 MCTP2 SOX11 ARVCF CRX MID2 MAPK1 GCK SMCHD1 DONSON RPL11 LRPPRC RBP3 CNGB1 HNRNPH2 ZNF513 B3GLCT IFT140 TSPAN7 KAT6A GNPTAB TBX2 STAMBP LEMD3 TMEM216 BNC2 ASXL3 MAF LMNA HNRNPK KPTN PEX6 TBC1D23 TMEM237 CCND2 RBM10 FREM2 PEX19 RFC2 DMXL2 CDH11 FAR1 GTPBP2 KIZ MOCS2 CCNQ PRPF8 FOXP1 RAB3GAP2 ZBTB24 MTOR NHS FUCA1 MYCN JMJD1C TCF20 TMEM70 RPS27 SLC25A46 TTI2 ABCA4 GHR FLNA ASPH FGF3 AUTS2 MSX1 SYT1 NRL GGCX PAX1 TRRAP DDR2 COL1A2 NFIA CITED2 KIF22 PROM1 PIK3R1 PYCR1 EHMT1 PHF8 IMPDH1 ZNF711 PRCD SIX2 SLC25A24 ABCA5 KDM6A TUBGCP6 RMRP CSNK2A1 CA4 GDI1 POLR3A CPT2 PYCR2 EFNB1 NSD1 NR2E3 KCNJ6 EFEMP2 BUB1 PCARE SATB2 PIGS USP9X INTU SOX5 HDAC4 NGLY1 SEC24C NEUROD2 NSUN2 FTO DOCK6 PRMT7 SON CLRN1 AHR SMARCC2 IRF6 RSPO2 RIPPLY2 LIFR IGF1R GDF1 PPP1CB ARID1A PTPRF RPS24 NOTCH2 GATA1 STAG2 IFT80 LSS SPRTN FTSJ1 UPF3B PARS2 NIN SMG9 YARS2 CLCF1 CDON NIPBL TOPORS CENPE RPL26 GNS SCAPER NPHP1 CSPP1 ARL2BP CXorf56 INTS1 SCARF2 ECE1 PEX10 LONP1 SNX14 TRIP13 MESP2 GPR101 PRPF3 FAM149B1 FIG4 ZIC2 ZNF341 AIMP2 TTC37 CTNNB1 DLX4 YY1 STAT3 GPAA1 MLXIPL AIP KIAA0753 CHD8 RUSC2 GRIN2A GABBR2 APC2 PIGA ACP5 LIG4 UBE2A SLC2A10 OBSL1 MAP2K1 CHN1 WAC PEX26 RBMX TRIM8 SAG MOCS1 SMO IER3IP1 RARB ADAMTSL2 PLOD3 RIC1 ZNF423 NKX2-6 ADNP NRAS WNT3 PEX3 CCDC88A SMOC1 RPS15A PEX14 FGFR3 WNT7A EIF4A3 GTF2I MID1 LMX1B BMPER IFT52 PAM16 LRP4 DHX38 IDH3A USP27X PPP1R15B KCNN3 KCNE5 OPHN1 RHO COG5 RPL18 RP9 SKIV2L TBX6 RLBP1 ACER3 TSR2 AGTR2 CDCA7 COL5A1 CEP290 KCNJ8 GLI2 USH1G ORC4 EBF3 SCYL2 CLTCL1 XYLT1 SIM1 WASHC5 PDX1 ADA2 AVP DPYD PHF21A CTSK MARS2 DLG3 COL1A1 SMARCE1 PRPH2 ROM1 SIK1 TBL2 RNF135 AHSG RPL35 RBM8A SEMA4A RDH11 TUBGCP2 TULP1 SNRNP200 IFT88 VAC14 FHL1 KCTD1 FSCN2 CWC27 IMPG2 SUFU PRPF31 SPATA5 PDE6A WDR73 ARID2 SOX18 CIT HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES CCN6 COL9A1 LOXL3 COL9A3 SLC29A3 COL2A1 TNFRSF11A NANS ENPP1 COMP EIF2AK3 COL11A1 KIF22 TRAPPC2 ZBTB20 RNU4ATAC POLR3A PDE4D ACP5 CHST3 COL9A2 SLC39A13 GORAB SOST SLC10A7 EXOC6B DMP1 CLCN7 COL10A1 B3GALT6 GNPAT FN1 PAPSS2 MMP13 TCIRG1 HP_ABNORMAL_SACRUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACRUM_MORPHOLOGY CCL2 SHANK3 CTBP1 TBXT LIMK1 RFC2 MNX1 HAAO RTTN FGF20 LIG4 ARID1B WNT7A GTF2I GDF6 FGFR2 BMPER YWHAE PAM16 SETBP1 SLC26A2 ELN VANGL1 NSD2 DVL1 EXTL3 KIF15 COX7B CLIP2 FGFR3 FUCA1 FGFRL1 FZD2 FLNB ERF KMT2A PDGFRB HCCS TBX6 NOTCH3 SMC1A DHPS ENPP1 HLA-B KANSL1 AEBP1 NCAPG2 NELFA KCNK9 DVL3 GDF3 HOXA13 VANGL2 CPLX1 NSUN2 ROR2 OTUD6B DCHS1 KIF22 TMCO1 B9D2 POC1A NXN HOXD13 FUZ ASXL1 WNT5A MED12 TAF1 CTCF ANK1 DEAF1 TBL2 FANCB LETM1 RMRP HIC1 PSMD12 TNFRSF1A APC2 GREB1L NSD1 MEOX1 ZIC3 MASP1 CDK10 LIFR PTH1R RPL10 BLM ITGA8 RAB23 USP9X TWIST2 BAZ1B RUNX2 PAFAH1B1 B3GLCT FAT4 NDUFB11 EBP SRD5A3 TBX4 SETD2 RET HNRNPK RPS19 GTF2IRD1 DMP1 CD96 LBR HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK TNFRSF11B RIPPLY2 HOXD13 TP53RK SOX4 PPP1CB SHOC2 CHST3 WDR4 ARID2 ANKH SMARCC2 RRM2B COL2A1 SMAD3 SMARCA4 MT-ATP8 NUP107 OSGEP SOX11 NUP133 SMARCB1 ARID1A LTBP3 SMARCD1 HES7 SLC26A2 LFNG SMARCE1 EXTL3 MESP2 MT-TL1 LMNA TPRKB RNU4ATAC WDR73 LAGE3 XYLT2 DLL3 DPF2 HGD ARID1B TRPV4 HP_ABNORMALITY_OF_THE_ACHILLES_TENDON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON TFG BICD2 SGCG SGCA FKRP ADAT3 KY ARL6IP1 ACTA1 NSUN2 GJB1 FKTN NGLY1 ABHD12 POMT1 LMNA HINT1 EMD PLEC FHL1 LARGE1 POU3F4 HRAS OPA1 TMEM43 ALS2 COL6A2 CRPPA GAN MYOT MT-TE PRKCG SYNE2 HGD SYNE1 HP_ABDOMINAL_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_AORTIC_ANEURYSM FBN1 MFAP5 PTPN22 TGFB3 ACTA2 TGFBR1 TGFB2 LOX NSMCE2 SMAD3 FOXE3 TGFBR2 ELN SMAD4 PRKG1 MYH11 MYLK MAT2A HP_AORTIC_ARCH_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ARCH_ANEURYSM SKI SEMA3E NKX2-5 ELN LIMK1 RFC2 CHD7 BAZ1B LOX RERE SMAD6 KCNH1 GTF2IRD1 GABRD KCNAB2 CLIP2 NOTCH1 GATA5 GTF2I TBL2 PRDM16 HP_SUPRAVENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_ARRHYTHMIA SLMAP KCNJ2 TWNK KCNJ5 KCNE3 GATA5 LMNA CASQ2 DTNA CSRP3 EMD SCN5A GATAD1 SCN1B HCN4 TMEM43 CACNB2 SCN10A SCN3B KCNH2 KCNE5 GATA6 RRM2B GJA5 MFAP5 XK SYNE2 CACNA1C FLNC CLIC2 NKX2-5 GATA4 NPPA DNMT3A KCNA5 COL4A1 DMPK TNNC1 TNNT2 CACNA1S TTN KCNE2 KCNQ1 TNNI3K BMP2 MYPN MYL2 ABCC9 SCN2B SYNE1 CIZ1 TBX5 TRPM4 BSCL2 MT-CYB SCN4B MT-ATP6 RANGRF TAB2 CACNA2D1 SMAD3 MYL4 FHL1 TRDN PRKAG2 RYR1 DES ACADL CAV1 AKAP9 NR2F2 RYR2 NAA10 MYH7 NUP155 POLG KCND3 SCNN1A ACTN2 KIF20A POLG2 FLAD1 CAVIN1 SEMA3A FOS CDH23 GPD1L ANK2 APRT AGPAT2 PKP2 SGO1 NEXN TNNI3 PLN TLL1 SLC19A2 SLC25A4 PPARG KCNJ8 MYOZ2 CRELD1 HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE PTGIS ADD1 STOX1 AGT GNB3 CYP3A5 ECE1 CORIN NOS3 KCNMB1 FLT1 AGTR1 HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY SNX14 KMT2D ROBO4 FGFR3 NKX2-1 CTBP1 LIMK1 MRAS HAAO FBN2 FANCL AFF4 ARID1B TSFM AMMECR1 GPC3 ELN UPF3B BRIP1 KRAS GATA6 MED13L MED25 DYNC2LI1 MYRF TTC37 SALL4 NSD1 FGFRL1 MMP14 BMP2 CHD7 HSPG2 COX7B GATA4 KANSL1 TNNT2 NCAPG2 RAF1 EVC SHOC2 ROR2 TNNI3 SPECC1L CACNA1C HRAS CEP57 SEMA3E HSPA9 BBS2 SLX4 CTCF GPC4 INSR STRADA ACADVL BRAF PAX3 PQBP1 MEGF8 SLC19A2 RAD21 NFIX BUB3 AGGF1 PIGN ARVCF FLCN FANCA RERE MAPK1 MASP1 FANCI CTU2 FGFR1 LYST RAI1 RAB23 FOXF1 VPS33B EVC2 XRCC2 UBR1 KAT6A C2CD3 TBX2 STAMBP UBE2T LTBP4 SMC1A LMNA GTF2IRD1 LARP7 UFD1 LETM1 XYLT2 FANCB MED12 ACTC1 SH2B1 RBM10 FANCM RFC2 ERCC4 FLNB GJA1 ZMPSTE24 PPP2R5D DNMT3A FGFR2 MEIS2 FOXC1 EP300 NSD2 MMP2 CLIP2 COMT GPX4 DSE FKTN FLNC SKIV2L JMJD1C RPL5 EFTUD2 PCGF2 UMPS AUTS2 HIRA BCR BRCA2 TGFBR2 NELFA SYT1 NEK9 CPLX1 MYPN RAC1 CREBBP OTUD6B TMEM94 TRRAP COL1A2 STK4 BRCA1 CHRM3 BUB1B WDR35 ZEB2 PTPN11 B3GAT3 MAD2L2 SLC25A24 KDM6A PACS1 ATP6V1E1 TALDO1 PIEZO1 NR2F2 NEK1 STRA6 NODAL TBX1 NAA10 BUB1 KMT2A ASCC1 PKD1L1 RPL10 COL5A2 CEP290 ABL1 USP9X CDC45 SEC24C CCDC22 IGF1R KDM5B GDF1 MYH6 SON HDAC8 PALB2 THOC6 CRELD1 FANCE DHCR7 GPC6 TRIP4 PHGDH NOTCH2 G6PC3 GATA5 KAT6B CITED2 PEX19 CHST14 PPP1CB RFWD3 SETBP1 TGFB3 POLA1 SRCAP TBX5 RNU4ATAC B3GALT6 AMER1 NIPBL PTEN B3GLCT GLI3 CHD4 GYS1 NKX2-5 ARHGAP31 SCN1B NFE2L2 TXNL4A RREB1 ECE1 UBE3B FANCF LONP1 NPHP3 TRIP13 WASHC5 MKKS EOGT RSPRY1 TMCO1 ALG12 FIG4 SMC3 NXN NKAP FANCG YY1 ASXL1 ANK1 MLXIPL SALL1 RPL27 BCOR POR FANCD2 TBX20 PIGA NF1 MMP21 MYH7 ZIC3 UBE2A DVL3 MAP2K1 MYL3 BAZ1B ATIC CCBE1 SLC29A3 NDUFB11 PIGO ZDHHC9 NOTCH1 TBX4 RARB GP1BB TLL1 CFC1 NONO RAD51 VPS33A JAG1 DACT1 CHST3 KIAA0586 RIT1 PCNT ADAT3 CDK8 GTF2I STAT1 EXT2 PIGT PIK3R2 MAP2K2 KIF15 GNPTAB ESCO2 IRX5 CRKL PTF1A CDK13 BMPR1A RPS17 EPHB4 TMEM260 TBX22 RAD51C GLI1 COL5A1 CACNA1D KDM1A PLD1 ABCD4 DPH1 SETD5 MAP3K7 TRAIP TKT KIF11 COL11A1 FANCC COL1A1 SMARCE1 ASXL2 ATP6V1A TBL2 SIK3 HCCS RBM8A TGDS SCN5A WT1 ADK VAC14 SMN1 CDK10 KIF20A TGFBR1 SMAD4 RPL11 SNRPB RPS19 SPATA5 ARID2 HP_ABNORMAL_T_WAVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_WAVE BRF1 KCNE2 CACNA1C KCNH2 SCN10A SCN4B MYL3 CALM3 CAV3 MECP2 KCNQ1 JUP KCNJ5 DCAF17 KCNE1 CALM2 ANK2 NOS1AP TRDN MYL2 CALM1 CLCNKB AKAP9 GYG1 SCN5A SLC12A3 SNTA1 HP_VENTRICULAR_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_SEPTAL_HYPERTROPHY MYPN BSCL2 GYG1 SYNE1 MYL2 MTFMT GLA MYBPC3 HP_CORONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_STENOSIS ABCA1 MLXIPL YY1AP1 ELN DYRK1B HP_CARDIAC_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_VALVE_CALCIFICATION NKX2-5 FBN1 LMNA SMAD6 IFIH1 NOTCH1 GATA5 GBA HGD HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION SLMAP KCNJ2 RRM2B TBX5 TRPM4 MT-CYB SCN4B TTR SDHAF1 RANGRF KCNJ5 CACNA1C CACNA2D1 SCN5A KCNE3 LMNA CALM3 SDHA GPX4 ABCC9 EMD CACNA1S RNASEH1 FHL1 ACADVL GPD1L DES SCN1B HCN4 TMEM43 BVES SCN10A SCN3B KCNH2 AKAP9 KCNE5 CACNB2 MMP2 GJA5 SYNE2 PTPN11 AGXT KCND3 SCN2B MMP14 GJA1 SCNN1A DMPK ACTN2 KCNJ18 GLA MTM1 SEMA3A MT-ATP8 SLC25A20 TTN CACNA1D PRKAG2 PKP2 MT-TL1 SDHB KCNQ1 SDHD KCNJ8 GABRA3 MYBPC3 SYNE1 HP_VENTRICULAR_ESCAPE_RHYTHM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ESCAPE_RHYTHM FHL1 LMNA SCN5A TMEM43 SYNE2 EMD SYNE1 HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY MT-CO2 MT-ND6 MT-CO1 DES MT-TF CLN3 MT-TW MT-TS2 MT-TQ MT-ND5 MT-TL1 MT-ND1 MT-ND4 MT-TH TSFM MT-CO3 HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN MMP21 DHCR24 GDF1 CDC42 RPS15A HP_LEFT_VENTRICULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_DYSFUNCTION TWNK PRDM16 ACTA2 DYSF SDHAF1 MT-ND5 LDLR MT-CYB FKRP CASQ2 SMAD4 MT-TV MT-CO2 PRKG1 MT-CO1 MT-TF SDHA SMAD3 MT-TW TRDN MFAP5 ABCG8 TOP3A RYR2 LOX TGFBR2 ELN RRM2B LDLRAP1 MYLK LAMA2 MYH7 POLG MT-TC GTPBP3 KIF20A TGFB3 POLG2 SGCG PCSK9 APOB MT-TS2 POMT2 MT-TQ MT-TK MT-TL1 DMPK TNNT2 MAT2A TTN LDB3 LMNA PPCS FBN1 TGFBR1 TNNI3 MYPN TGFB2 MT-ND6 ABCG5 MT-CO3 SLC25A4 FLNC SDHB FOXE3 POMT1 MYH11 SDHD EYA4 MT-ND1 HP_SHORTENED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_PR_INTERVAL TRPM4 PRKAG2 GAA MT-CYB KCNJ18 CACNA1S GABRA3 HP_PREMATURE_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ARTERIOSCLEROSIS LMNA APOB ABCG8 LDLRAP1 ABCG5 PCSK9 WRN LDLR HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS ZMPSTE24 ABCG8 ACTA2 CEP19 ABCG5 LMNA PCSK9 LDLR APOB LIPC APOE ABCA1 LDLRAP1 HP_PROLONGED_QTC_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_QTC_INTERVAL KCNE2 CACNA1C KCNH2 KCNE1 BSCL2 SCN10A KCNA5 CALM3 FOS CAV3 MECP2 KCNQ1 SNTA1 KCNJ5 TNNI3K TANGO2 CALM2 ANK2 NOS1AP AGPAT2 CAV1 TRDN CALM1 SCN4B AKAP9 SCN5A PPARG CAVIN1 HP_POLYARTICULAR_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYARTICULAR_ARTHROPATHY ANKRD55 CD247 STAT4 NOD2 NLRP1 IL2RA DMP1 ENPP1 TNFAIP3 MEFV IL2RB PTPN2 PTPN22 HP_PANCREATIC_PSEUDOCYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_PSEUDOCYST PRSS1 PRSS2 CFTR CTRC SPINK1 HP_SECRETORY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECRETORY_DIARRHEA SLC9A3 SPINT2 NLRC4 FOXP3 PLVAP HP_PANCREATIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CALCIFICATION PRSS2 SPINK1 CTRC CASR PRSS1 CFTR CPA1 HP_IMPAIRED_MASTICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_MASTICATION NECTIN1 PTPN22 GNAI3 ADSS1 ADNP FARS2 COLQ LAMB2 ALS2 TP63 PYGM MSX1 C12orf65 PPP2R5D LAMA2 TUBB3 IRF6 HP_BOWEL_DIVERTICULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWEL_DIVERTICULOSIS EFEMP2 MLH1 MSH2 ELN PTEN LIMK1 RFC2 BAZ1B PKD1 FBLN5 UBR1 PIK3CA GTF2IRD1 RET CLIP2 AKT1 COL5A1 MLXIPL GTF2I TBL2 ALDH18A1 HP_RECTAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_ABSCESS NCF2 ITGB2 TTC7A IL10RB VANGL1 CYBB CYBA RAC2 NCF1 HP_ADENOMATOUS_COLONIC_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMATOUS_COLONIC_POLYPOSIS POLD1 APC RNF43 BMPR1A ENG MUTYH POLE AXIN2 GREM1 NTHL1 PTEN MSH3 SMAD4 HP_GASTROINTESTINAL_INFARCTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFARCTIONS IL12B HLA-B PTPN22 MEFV JAK2 STK11 F5 COL3A1 MLX TEK HP_INTESTINAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_HYPOPLASIA DOK7 ACTG2 LMOD1 GUCY2C SLC18A3 CLMP MYOD1 MUSK SOX10 LMNA ZMPSTE24 GATA6 FLNA MYH11 MYLK RAPSN NUP88 HP_THORACIC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_HYPOPLASIA ABCC9 SLC35D1 FGFR3 DYNC2LI1 CCDC47 KLHL41 ACTA1 B4GALT7 NEB NEK9 DLG3 WDR35 IFT172 INPPL1 IFT80 SOX9 ZBTB20 SLC26A2 CASR FLNB CTSK HHAT SLC10A7 GNE COL2A1 LMOD3 IFT122 HSPG2 IFT43 RUNX2 IFT52 WDR60 COL11A2 SLC9A6 ATP7A SEC23A AGRN EVC IFT140 DCHS1 ORC6 TMCO1 MTOR CEP120 BCOR ZC4H2 TRIP11 FAM20C SKI MIR140 POR PIGN TPM2 KIAA0586 TRPV4 TCIRG1 KLHL7 DONSON TNFSF11 UPF3B EVC2 SNX10 WDR19 UBA1 PTH1R CLCN7 ASXL1 CRTAP HSD17B4 MATN3 SBDS FLNA LBR TTC21B DYNC2H1 CHST3 PCNT SRP54 FGFR2 BMPER PAM16 TRPV6 WDR34 KYNU KBTBD13 MUSK TPM3 GNPTAB GPX4 IFT81 ACTG2 TCTEX1D2 ITGA3 MYPN PCGF2 ADAMTS3 GBA PUF60 GLI1 NAA10 KCNJ8 DDR2 LMNA COL11A1 B3GAT3 SERPINH1 RMRP CFAP410 PIK3C2A NEK1 CANT1 CCBE1 CFL2 DNAJC21 CSPP1 CILK1 INTU IHH XYLT1 FBN1 FAT4 TAPT1 MBTPS2 SNRPB RPS19 HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA SALL4 ALX3 PLXND1 TBX5 TBX3 MYMK ALX1 REV3L HP_JOINT_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HEMORRHAGE F8 F2 F13A1 F10 LMAN1 F11 F7 F9 PLAU GGCX WAS SERPINF2 VWF MCFD2 F5 F13B HP_ABNORMALITY_OF_THE_SYNOVIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SYNOVIA CCDC8 KMT2D FANCE POLR1A HACE1 SMARCAL1 CCDC47 CTBP1 GLI3 DHCR7 KLHL41 GLRA1 ACTA1 YWHAE MASP1 VAMP1 MYO18B GPHN PAFAH1B1 FANCL AFF4 PTEN EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 SOX9 GPC3 SLC6A9 COL6A2 SLC26A2 WDR35 COL1A2 BRIP1 PIGL COL2A1 ATR PORCN RNU4ATAC B3GALT6 NIPBL COL1A1 CHD4 CHRNG LMOD3 FGFRL1 FUT8 FZD2 FLNB NOD2 ALDH18A1 GSC PUF60 DYM HSPG2 IFT52 PIEZO2 COLEC11 NFIX NSDHL FLNA NEB KANSL1 AEBP1 TBX15 AP4M1 SLC5A7 UBE3B SELENON TELO2 FANCF EXOC6B LONP1 COL12A1 MYH8 FIG4 SMC3 SLC35A2 ALG9 MMP2 VPS33A CEP120 FANCG COL13A1 RYR1 COL6A1 ZC4H2 SLX4 FLI1 PTRH2 GPC4 FKRP FANCB INPPL1 COL6A3 FANCI MIR140 RAD21 MCTP2 DHODH APC2 EYA1 FANCD2 KIAA0586 FANCA WDR60 TPM2 DSTYK APC COG1 PRG4 COL10A1 RPS15A ARSB SLC2A10 OBSL1 RAB23 GEMIN4 ATP6V0A2 EXOSC3 SLC35D1 TRPV4 MKKS XRCC2 TNNT3 GMPPB HACD1 HYAL1 GNPTAB COL5A2 POMT2 WNT7A CRTAP ITGA7 OCRL ATP7A UBE2T SMOC1 F8 SMO TBX4 SMC1A MYH7 ADAMTS2 LETM1 GDF5 ERCC1 PYCR1 AP4B1 RAD51 MYO9A CHST3 LPIN2 FANCM ATP6V1A ERCC4 INPP5K SLC6A5 SIL1 AGRN GATA1 GJA1 FKBP10 FGFR3 SNAP25 EIF4A3 PPP2R5D KIF22 CENPJ BICD2 MAP2K1 ATAD1 LRP4 C12orf57 ARNT2 NSD2 DVL1 MATN3 EXTL3 LMNA CUL7 GPX4 ECEL1 AP4S1 FBLN1 GORAB SF3B4 IARS2 COLEC10 KAT6B NANS SIX1 RAD51C SLC35A3 BRCA2 TGFBR2 AKT1 DVL3 THRA CPLX1 BRAF DDR2 DNAJC21 SLC25A1 IFIH1 BRCA1 CHRM3 CD96 CLTCL1 TPM3 OFD1 SETD5 COL9A3 ZNF469 PTPN11 MYL2 MAP3K7 TRAPPC12 B3GAT3 SMAD3 MAD2L2 WNT5A FANCC AP4E1 SERPINF1 KDM6A COL5A1 CHAT GLRB RECQL4 FBN1 DDRGK1 MYH3 POLR3A SLC18A3 NSD1 CANT1 IL6ST TBCD VAC14 CFL2 FHL1 KMT2A HOXA11 PTH1R UFSP2 ATP6V1E1 CSPP1 BGN USP9X XYLT1 DYNC2H1 PYCR2 ZMPSTE24 MBTPS2 FGFR2 POMT1 SYT2 MAP3K20 EVC SNRPB EVC2 GLB1 SETD2 AARS1 HDAC8 PALB2 TRIP11 GUSB AP3B1 COL3A1 OSGEP LARGE1 HP_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRITIS TTC37 SKIV2L IL1RN CASP10 FAS PRKCD RIPK1 IL1B RASGRP1 LRBA CTLA4 FOXP3 KRAS CDH1 FASLG AIRE HP_ABNORMALITY_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GALLBLADDER CCDC47 DHCR7 LIMK1 RFC2 GPC1 GNE SPTB PSAP PEX19 SC5D EPB42 HBB STK11 GTF2I GDF2 SCNN1A ELN CLIP2 COMT SCNN1G GPR35 MED25 B3GLCT AIRE SEC23B EPB41 JMJD1C UQCRFS1 ALAS2 KCNN4 ARSA ABCB4 PKLR SMAD4 PIEZO1 ACVRL1 UROS DMPK HIRA RREB1 NELFA TBX1 BLVRA ABCB11 TCF4 HOXD13 NSD2 FECH MECP2 PFKM ANK1 GATA6 TBL2 ABCG8 LETM1 SLC4A1 CYP27A1 SMPD1 SPTA1 GPI CYP7A1 TPI1 ARVCF HK1 BPGM RFX6 JAK2 MST1 PNPLA2 FOXF1 F5 BAZ1B INTU SPECC1L SEC24C ENG GYPC GCGR GP1BB GTF2IRD1 SON UFD1 ALDOA SCNN1B FUCA1 HP_INTESTINAL_POLYP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_POLYP POLD1 AKT1 MTOR FLCN RNF43 PIK3CA KRAS CEP57 MUTYH KLLN BMPR1A RET AXIN2 KEAP1 GREM1 APC ECE1 PMS2 EDNRB TGFBR2 SMAD4 GDF2 EPCAM SDHB PTEN SEMA3C BUB3 PTCH2 PDGFRA NTHL1 BUB1 USF3 CTNNB1 NRTN SDHC GNAS POLE DICER1 ACVRL1 MLH3 PTCH1 MSH2 MSH3 ENG SEMA3D MSH6 PMS1 TRIP13 SEC23B COMP EDN3 STK11 GDNF FAN1 BUB1B SUFU SDHD MLH1 HP_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_ABORTION FGA DNAJB13 RSPH1 SYCP3 SPEF2 CCDC40 SPAG1 FOXJ1 MGP MCIDAS ZMYND10 MTMR14 XIST ENG JAK2 SERPINC1 WRN GAS2L2 DNAH1 CCDC151 ALB DNM2 CCDC39 ARMC4 FGB DNAL1 F2 TTC25 DNAAF2 DNAI2 F5 DRC1 NEK10 CFAP221 THPO BIN1 RSPH3 LRRC6 DNAAF1 DNAAF5 CCNO RPGR RSPH9 STK36 GPHN DNAH9 HYDIN DNAAF6 MYF6 OFD1 RSPH4A ANXA5 DNAH5 MPL CCDC114 CCDC103 LRRC56 DNAAF4 NME8 GAS8 HTR1A TTC12 HOXA13 F13A1 CCDC65 CFAP298 DNAAF3 FGG CFAP300 F13B RYR1 DNAH11 DNAI1 HP_PROMINENT_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_TIP ZEB2 SYT1 PIGY OBSL1 WDR26 PDE4D FLCN PCGF2 CHRNA7 KCNJ6 AUTS2 MED25 HP_DEPRESSED_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_BRIDGE SNX14 TWIST1 FGFR3 SMARCAL1 GLI3 NPR2 CLCN4 MRAS AMMECR1 FGFR1 KCNAB2 ARID1B PTEN FOXG1 SOX9 SLC6A9 KISS1 KIF11 FLNB MED12 FGFR2 COL2A1 POLE MED13L MRPS14 CBL SPRY4 RAB39B TACR3 CLIC2 FGF17 BMP2 LTBP3 ARHGEF6 NRAS TGIF1 RUNX2 PEX1 WDR35 COL11A2 SOX11 RAF1 SRD5A3 PEX6 ROR2 WDR26 ARX TRIP12 SPECC1L IL1RAPL1 CACNA1C HRAS SLC25A22 ATRX RAI1 GNAS TFAP2A CEP57 MTOR KCNH1 EDARADD MGP PIGQ GATAD2B MYMK LRP2 PEX10 AGL MECP2 MAN2B1 PIK3CA FRAS1 GNRHR DVL1 INPPL1 FAM20C WDR11 SMARCB1 BRAF CDKN1C MEGF8 AGA MIR140 RAD21 NFIX PITX2 PIGN TSHB RPS6KA3 COL11A1 MID2 AKT3 KIAA0586 WDR60 TRPV4 UQCC2 KDM6B PEX12 CTU2 ARSB PEX7 IQSEC2 SKI RAB23 VARS1 SLC18A3 B3GLCT TSPAN7 TOE1 DICER1 GNPTAB TBX2 ZSWIM6 PIK3R2 WNT5A MAF HSD17B4 ANKH SMC1A PMM2 HS6ST1 ADAMTS2 COG8 SOST CCND2 PIGY PEX14 SEPTIN9 COL18A1 RIPK4 SMARCD1 TRIO DMXL2 HELLS RAB3GAP1 FAR1 ADAMTS10 GTPBP2 GPC4 METTL23 TWIST2 TONSL DHCR24 DPF2 DIS3L2 ACAN ZBTB24 LFNG SUMF1 PROKR2 ACOX1 EXTL3 DEAF1 SIN3A CUL7 PDE4D POR GPX4 PIGP DOK7 GLIS3 FANCL TCF20 ZBTB18 FLNA DNMT3B AKT1 SETD5 DVL3 CRIPT PAX1 NSUN2 FOXL2 TMEM94 MN1 TRRAP GNAO1 DDR2 UGP2 PREPL KIF22 WDR34 DUSP6 HBB ZNF41 EZH2 DPM1 IDUA CDH11 SOX4 ZNF711 B3GAT3 ETFDH SIX2 ELN CHD7 FZD2 SON ARSL SLC25A24 STX16 ALX4 SH3PXD2B SYP RMRP ARID1A SP7 TALDO1 GDI1 DYNC2H1 FBN1 KCNA1 DDRGK1 ARL3 PEX13 SMARCE1 RAB3GAP2 SLC9A7 KIAA1109 CDKL5 NAA10 HECW2 CCBE1 EFEMP2 KMT2A HUWE1 SUFU PIGT TFAP2B AHDC1 USP9X ARID2 SOX5 INTU HDAC4 GBA XYLT1 PPM1B COL1A1 NEUROD2 PEPD EYA1 FGF8 NSMF SOS1 PRKAR1A NBN DOCK6 PEX2 HDAC8 KISS1R GPC3 NUP88 CAMKMT ABCC9 RIPPLY2 RSPRY1 SNAP29 GPC6 KLHL7 GLUL ACSL4 TUBB NAGA SMARCC2 STXBP1 STAG2 AIFM1 SLC1A4 EIF2AK3 IFT80 PEX16 KRAS SHROOM4 FTSJ1 SETBP1 HES7 SLC26A2 UPF3B SMG9 NIPBL HCFC1 PRDM16 EDA PLOD1 GMNN IFT52 MEF2C GNS TRIP11 CANT1 PEX5 CXorf56 SCARF2 PROK2 UBE2A SEMA3E UBE3B ADNP LONP1 PEX26 LBR WASHC5 MESP2 SHH SCN2A CNOT1 P4HTM FAT4 SMC3 TRIM37 PEX19 ALG9 CASK SHOX NXN TBCE TMEM107 RERE NRXN1 TAF1 ANK1 MLXIPL ADGRG6 FREM2 EED PCLO GJA1 KAT6B ANOS1 CNKSR2 EDAR PIGA NF1 GNPAT PRMT7 ADAT3 MAP2K1 EEF1A2 WAC SMARCA4 PTH1R SLC45A1 TRIM8 ETFA DYNC2LI1 SMOC1 SMO LARP7 TBX4 RHOBTB2 PSAT1 RAPSN PTCHD1 CUL4B JAG1 HYAL1 TMEM216 CHST3 PEX11B ETFB LIG4 TP63 ZIC2 ALG3 BMPER PAM16 TAC3 USP27X PAX3 KYNU MAP2K2 KCNE5 DHCR7 POGZ ANTXR1 COL1A2 PIGL KREMEN1 IFT81 CDCA7 HOXB1 BMPR1A ERF RPS23 DPH1 ALG13 AGTR2 FH ADAMTS3 PAK3 PRKD1 SLC3A1 GLI2 FOXC1 GRIP1 CRLF1 DLL3 SCYL2 WDR4 FLII OBSL1 FRMPD4 MAP3K7 CCDC22 PNKP MYOD1 POU1F1 MARS2 DLG3 CNTNAP2 MAPRE2 ALDH6A1 SIK1 DMD GABRD CDK10 KCTD1 CSPP1 MUSK LINS1 GNRH1 PEX3 IARS2 BUB1B PIGG SCN1B SPATA5 ZNF81 CD96 HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION NF1 FOXP1 MAN1B1 ATP6V1E1 CHST14 TNNI2 ATP6V0A2 ATP6V1A USP9X DSE HP_VENOUS_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_INSUFFICIENCY COL5A2 JMJD1C VHL PIK3CA PTEN FIBP PROS1 GNAQ G6PC3 SEC24C ENG FLT4 EPHB4 COL3A1 NDP COL1A1 HIRA AEBP1 VEGFC RREB1 ATP7A GJC2 NOTCH3 COL5A1 FOXC2 SMOC1 AGGF1 GP1BB PIEZO1 ARVCF CLCNKB TBX1 PROC SMAD3 UFD1 COMT SLC12A3 KIF5A RASA1 SLC29A3 HP_ARTERIAL_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_DISSECTION SMAD3 COL5A2 COL5A1 TGFBR1 COL1A1 PLOD1 TGFBR2 COL3A1 HP_PERSISTENT_LEFT_SUPERIOR_VENA_CAVA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_LEFT_SUPERIOR_VENA_CAVA TMEM260 UQCRFS1 RAI1 RBM10 MED25 SRCAP HP_CEREBRAL_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VENOUS_THROMBOSIS HABP2 PROC F2 SERPINC1 F13A1 PDE4D MTHFR PRKAR1A PROS1 PGM1 HP_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_HEMANGIOMA FZD2 DHCR7 CCND1 KRAS VHL ESCO2 FGFR1 WNT5A GLI3 SRD5A3 MGAT2 PTEN RECQL4 ARL6IP6 PUF60 SEC23A AKT1 DIS3L2 DVL3 EP300 KDR FLT4 ANTXR1 DVL1 CREBBP EXTL3 RASA1 TBC1D24 GNAQ EIF2AK4 CD96 OFD1 HP_DISTURBANCE_OF_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTURBANCE_OF_FACIAL_EXPRESSION SCN9A GABRA1 EP300 PANK2 PCDH19 NECTIN1 ATXN8OS GATAD2B STXBP1 MECP2 CREBBP SCN2A TP63 GABRG2 SCN1B MSX1 DNM2 MTMR14 GLI3 PNKD SCN1A IRF6 PMP22 HP_PROGEROID_FACIAL_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGEROID_FACIAL_APPEARANCE STUB1 LMNB2 ERCC3 LMNA POLR3A RNF113A ERCC6 ELN KCNJ6 GORAB ZMPSTE24 B4GALT7 ERCC8 WRN HP_SPARSE_LATERAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_LATERAL_EYEBROW TRPS1 LIPH NECTIN1 EDARADD NSUN2 LPAR6 WDR26 KDM6A TWIST2 HNRNPK KRT71 IRX5 LIG4 TBX3 PQBP1 COG6 KRT74 KRT25 KMT2D HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM C8B PACS1 CFH C4B CFI LMNB2 SLC7A7 C1QB C1QC C6 C9 SPP1 C7 LMNA C3 C1QA CFB CFHR1 C1S DNASE1L3 C8A CFD MASP2 C4A CFP C5 STAT4 IRAK1 CFHR3 HP_SPASTIC_HYPERACTIVE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_HYPERACTIVE_BLADDER PLP1 DARS2 GBA VPS35 DNAJC13 KIF5A GIGYF2 SNCA LRRK2 EIF4G1 HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY FANCE FANCG ACTA2 LIMK1 FANCM RFC2 ERCC4 LDLR MAD2L2 SLX4 SMAD4 FANCC FANCL PRKG1 YY1AP1 GTF2I RFWD3 STAT1 SMAD3 TBL2 COL3A1 MFAP5 FANCI ABCG8 ELN ABCA1 FANCD2 LMNA BRIP1 LOX TGFBR2 CLIP2 FANCA LDLRAP1 MYLK SLC2A10 TGFB3 BAZ1B PCSK9 XRCC2 PPARG APOB NDE1 RAD51C AEBP1 BRCA2 ATP7A MAT2A FBN1 UBE2T ZMPSTE24 FANCF TGFBR1 TGFB2 ABCG5 GTF2IRD1 SON FOXE3 MYH11 PALB2 BRCA1 FANCB RAD51 HP_ABNORMAL_VENA_CAVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY TMEM260 UQCRFS1 MMP21 RAI1 RBM10 MED25 SRCAP UBE2A HP_ABNORMAL_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_EXPRESSION MAPT MRE11 PDGFRB PANK2 CERT1 GLE1 DNAJC13 SLC6A8 TWNK SNCA FRG1 GBA ACTA1 PLXND1 ADH1C PDGFB SNCAIP LRRK2 ATXN2 SLC6A9 EP300 HPSE2 PABPN1 DNMT3B NEB ATP13A2 CC2D1A DPM2 PIEZO2 TBP TP63 SLC30A10 SPR RRM2B ATXN8OS GLI3 MYH7 PNKD TH PLA2G6 HOXB1 NECTIN1 TRIM32 SLC18A2 STAC3 PLAA MSTO1 HSPG2 MTM1 TPM2 TXNL4A RYR1 MSX1 SLC6A3 SMCHD1 NR4A2 ATP7A DUX4 ITPR1 ATP1A3 STXBP1 GIGYF2 CREBBP CCDC174 PRNP VAMP1 EBF3 FKTN PAX6 MYH2 GMPPB GABRA1 ATP6AP2 KCNH1 SGCB PCDH19 GATAD2B POLG MYL1 KCNK9 FBXO7 HLA-DQB1 DNM2 TAZ SLC20A2 ATP6V1A KMT2D SCN9A DNAJC6 DCTN1 TANGO2 FTL FMR1 MYH3 MECP2 TK2 GFM2 PURA FA2H LRP12 GABRG2 SLC52A3 LAMA2 SLC39A14 PMP22 DNA2 POLG2 BCL11B UBE3A VPS35 KCNJ6 PODXL SCN1A EIF4G1 JAM2 UBA5 SYNJ1 TPM3 KDM6A ASXL3 REV3L TECPR2 SLC25A4 KLHL41 SCN2A UBA1 SPTBN4 SCN1B MTMR14 GLUD2 IRF6 HP_INSPIRATORY_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSPIRATORY_STRIDOR D2HGDH PLP1 SERPING1 SCN4A IGHMBP2 SLC52A3 HP_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS SF3B4 NEK1 GLI3 PRRX1 SETBP1 HP_RECURRENT_HERPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HERPES MBL2 RFXAP CD3E RFXANK CD3D RFX5 UNC119 IL2RG CD247 CIITA STAT1 UNC93B1 HP_LACK_OF_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_T_CELL_FUNCTION AK2 RFXAP ADA RFXANK JAK3 CIITA RFX5 HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I C1QB CFH C1QC CFI C1QA CFHR1 CFHR3 HP_SEVERE_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_B_LYMPHOCYTOPENIA RAG2 NFKB2 ADA DCLRE1C RAG1 HP_ABNORMALITY_OF_HUMORAL_IMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY MYSM1 DOCK8 SMARCAL1 RNU4ATAC MPLKIP NHEJ1 BLNK BACH2 PIK3R1 CD81 MVK IKBKB CD79A STAT3 TNFRSF13C CD19 AICDA GPC3 ALB IRF2BP2 KRT1 C1QA CASP10 RIPK1 MOGS SFTPC IGHM C4A CD79B GPR35 ZAP70 GTF2H5 IGLL1 ADA2 TTC37 C8B ATM LRRC8A TRNT1 CLCA4 C4B BTK SCARB2 RAG1 HYOU1 LAT TERT TNFRSF11A TYK2 LRBA ELANE NFE2L2 C6 IL4R DCTN4 CD40LG MYD88 IKBKG CFH PSTPIP1 KRT9 TNFRSF13B CFTR TCF4 DCLRE1C CTLA4 ALG12 JAK3 KRT18 GTF2E2 GBA TCN2 IL21 RNF113A ICOS NRAS SH3KBP1 TONSL MTOR BLM RFXAP MSN CARD9 BSCL2 LMNB2 CTPS1 GPC4 HELLS MAN2B1 C9 RASGRP1 FASLG SP110 POMP LAMTOR2 FAS CD40 NFKB2 RAG2 PSMB8 TFRC TP53 MST1 MS4A1 SPINK5 MTHFD1 CARMIL2 PLCG2 XIAP DNMT3B UNG EXTL3 PLA2G7 TCF3 ATP6AP1 FOS AK2 IL2RG SAMD9L SPP1 TNPO3 CXCR4 ERCC2 SLC46A1 AGPAT2 CFB VPS45 SLC25A13 CNBP PMM2 TGFB1 PPARG C5 CAVIN1 ADA VPS33A RFXANK SFTPA2 SPIB CD3D PSMB9 NFKB1 CD247 KRT8 WAS EPG5 ZBTB24 PIGT IKZF1 CD3E PTEN DNASE1L3 NLRP1 B2M IFNGR1 COG6 CIITA STAT4 HLA-DRB1 RNF168 SKIV2L CDCA7 POU2AF1 CFI ERCC3 BCL10 MUC5B RFX5 C1QC ADAMTS3 LMNA CCND1 SH2D1A KLHDC8B CARD11 CFHR1 PGM3 C8A CFD IRAK1 IL12A CD28 STX1A CISD2 IL7R PACS1 CR2 TARS1 IL2RB PLVAP STING1 FOXP3 RTEL1 IL12RB1 RMRP CSNK2A1 PIK3CD RBM8A CAV1 C1S CD70 MASP2 IL6ST CCBE1 SETX CFP MMEL1 PSMB4 TNFSF12 CDSN ITK IRF5 IGKC IL2RA SLC7A7 TIMM8A NBN CD27 C1QB CD55 C7 COL1A1 MS4A2 C3 LIG4 IFIH1 PRKCD TNFSF15 FLNA SON FAT4 CFHR3 TNFRSF1B KRAS HP_CELLULAR_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULAR_IMMUNODEFICIENCY EPG5 AKT1 CDCA7 PIK3CA SMARCAL1 TERT FOXN1 TBCE SDHC RMRP DNMT3B NHP2 RTEL1 KLLN HELLS AK2 NOP10 PARN ZBTB24 SDHB FRAS1 USB1 TINF2 CTC1 ACP5 SEC23B DKC1 NPM1 TERC ATM USF3 PTEN WRAP53 SDHD HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS SCNN1G IL2RG CFTR RPGR CFI SCNN1A SCNN1B HP_RECURRENT_MENINGOCOCCAL_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_MENINGOCOCCAL_DISEASE MBL2 C7 C6 CFI CFB HP_COMBINED_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMBINED_IMMUNODEFICIENCY ADA AK2 RMRP RAG2 LIG4 BCL11B IL2RG RAG1 IL7R TTC7A DCLRE1C XRCC4 BUB1B PGM3 EXTL3 ACP5 PTPRC CHD7 JAK3 PNP MTHFD1 PRKDC HP_RECURRENT_CANDIDA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CANDIDA_INFECTIONS IL7R DOCK8 RFXAP CD3E RFXANK CIITA CD3D CD247 ZAP70 RFX5 SLC39A4 HP_DECREASE_IN_T_CELL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASE_IN_T_CELL_COUNT MAGT1 ATM IL7R DOCK8 RFXAP RAG2 IL2RA MYC FOXN1 LCK LEPR NHEJ1 RAG1 NBN IL2RG ADA DNMT3B LEP FAS WIPF1 FASLG CD3G SP110 EPG5 PIK3CD RFXANK JAK3 CASP10 PGM3 RFX5 EXTL3 PRKCD ACP5 PTPRC ZAP70 RASGRP1 CD247 CIITA CD8A HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS DOCK8 GJB2 BTK LYST PSENEN CYBA IL17RA NCF1 IL10RA PSTPIP1 NCF2 GJB6 ZAP70 IL2RG CTSC CYBB PSEN1 UBE2A MYD88 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 IL7R IL2RG EXTL3 CD8A WIPF1 CD3G HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B CFH CFI CFB CFHR1 CFHR3 HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS MBL2 C8B CFTR C7 CFI CFB CYBA NCF1 SCNN1B SCNN1G NCF2 IL2RG ITGB2 RPGR C6 CYBB SCNN1A HP_DECREASED_SERUM_COMPLEMENT_C3 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_C3 LMNB2 PACS1 CFH STAT4 CFI IRAK1 C3 CFHR1 CFHR3 SPP1 HP_RECURRENT_SINOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINOPULMONARY_INFECTIONS TCIRG1 PIK3CD TNFRSF13B NBN NFKB1 DOCK8 STAT3 ELANE BACH2 CASP8 SRP54 ATP6V0A2 TFRC DNAJB13 GFI1 HP_RECURRENT_NEISSERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_NEISSERIAL_INFECTIONS MBL2 C8B C7 C6 CFI CFB HP_IMPAIRED_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_T_CELL_FUNCTION AK2 JMJD1C CR2 ESS2 UMPS CTPS1 SEC24C TNFRSF13C HIRA RASGRP1 RREB1 WIPF1 PNP DGCR8 TBX1 CD19 DGCR2 GP1BB ARVCF SLC39A4 COG6 UFD1 CD3E COMT ICOS DGCR6 TNFRSF13B HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES MAP3K7 SFRP4 FUCA1 PDE4D AMER1 RUNX2 SIX2 FLNA PRKAR1A HP_CRANIOFACIAL_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_OSTEOSCLEROSIS TGFB1 TBCE SLC39A14 CLCN7 PLEKHM1 SOST AMER1 TCIRG1 ANKH FAM111A HP_FACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPEROSTOSIS PTDSS1 SOST AKT1 GJA1 AMER1 HP_FLAT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_OCCIPUT OTUD6B DPM1 PEX14 EHMT1 SLC35A1 PEX11B NRXN1 PEX10 UBE3A MAN2B1 METTL23 CNTNAP2 ZIC1 PEX16 ADSL KIF11 UBE3B MCTP2 PEX13 PEX12 TUBB3 INPPL1 PEX26 LEMD3 TMEM70 CYP2R1 RPS23 PEX1 TAF1 VDR PEX3 PEX5 MAN1B1 OCRL PTCH1 PEX6 PEX2 ERF SLC34A3 CYP27B1 WDR73 SH3PXD2B PEX19 AMER1 HP_DECREASED_CALVARIAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CALVARIAL_OSSIFICATION CRTAP COL1A2 FGFR2 COL1A1 ZMPSTE24 ALPL PPIB INTU LMNA WNT7A HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY C2CD3 SF3B4 DYNC2H1 PRRX1 WDR35 NEK1 WDR34 GLI3 IFT80 EIF4A3 SERPING1 WDR60 SETBP1 ASAH1 FOXE1 HP_POSTNATAL_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTNATAL_MICROCEPHALY RPL10 ACO2 CERT1 VPS11 ASNS EFTUD2 SLC1A4 TBC1D24 SNAP29 MECP2 CCDC88A ATP6V1A EIF2B3 MICOS13 NTRK2 EIF2B4 FAR1 NGLY1 SCN8A CTNNA2 RNASEH2C DEGS1 GABRB2 COG7 SMC3 ARNT2 SLC2A1 SPTAN1 CLP1 RAB3GAP2 IQSEC2 PLPBP PNPO TREX1 PARS2 DPM2 RNF113A BRAT1 CLTC ACTG1 ZNHIT3 EMC1 PLEKHG2 SLC25A19 PCDH12 CHMP1A COG8 SLC18A2 PLAA RNASEH2A CDKL5 TSEN54 TBC1D20 TAF2 ATP6V0A2 PUF60 SCN1A FOXG1 TSEN15 EEF1A2 SLC39A14 PAFAH1B1 SLC12A5 CDC42 TRAPPC9 ALG12 RARS2 COG6 HTRA2 MPC1 JAM3 DPM1 POMK VPS53 GLS TRAPPC12 TBCD RAB18 GOT2 CARS2 TSEN2 COG1 UBE3A PTRH2 DHFR PPT1 TRIO WWOX RUSC2 MED17 NDUFS1 CACNA1B GRIN2A PCLO SEPSECS EIF2B1 CASK PYCR2 TMEM165 PIGA TUBGCP2 PSAT1 GPT2 FOXRED1 PMPCB SLC25A22 ATP6V1E1 VARS1 TRAPPC6B NDUFA11 EXOSC3 HNRNPH2 COG2 AMPD2 EXTL3 CDC45 EIF2B5 DOLK PUS3 TOE1 EIF2B2 ARFGEF2 STAMBP TRAPPC2L ZSWIM6 UBA5 QARS1 NEXMIF COQ9 PNKP CYFIP2 HSPD1 WDR73 MFSD2A FGF12 HP_PROMINENT_METOPIC_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_METOPIC_RIDGE PDX1 ABCC8 SMARCD1 RTTN ASXL1 HNRNPU NOTCH3 SC5D PPP2R1A TWIST1 ERCC6 FOXG1 LMX1B KCNQ1OT1 KCNJ11 PLAGL1 ADSL ERMARD NUP188 INS SMG9 GNPTAB GCK ERCC2 CDKN1C ERCC5 KLHL7 STAT3 ERCC1 ZFP57 INTU TBCK KCNQ1 KANSL1 HYMAI STXBP1 IGF2 KDM5B CDC6 ACTG1 ACTB ADAMTSL1 MAF HP_REFRACTORY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REFRACTORY_ANEMIA BMPR1A TBXAS1 GREM1 COL7A1 PTEN MMP1 CP DDX41 HP_CHRONIC_MYELOGENOUS_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MYELOGENOUS_LEUKEMIA ABL1 ASXL1 JAK2 KIT SRSF2 MPL THPO BCR TET2 HP_INCREASED_MEGAKARYOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEGAKARYOCYTE_COUNT JAK2 SH2B3 TP53 MPL TET2 CALR SF3B1 HP_INCREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_VOLUME KIF23 SLC4A1 HBB KCNN4 RPL5 MTRR RPL11 MMADHC ANKRD11 RPS24 CBLIF ABCB6 PIEZO1 RPS7 HP_DISSEMINATED_INTRAVASCULAR_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION TBL1XR1 NLRC4 HELLPAR SERPIND1 NPM1 PROS1 ZBTB16 NUMA1 STAT3 NABP1 BCOR CFH RARA FIP1L1 CD46 STAT5B PRKAR1A CFI PML IRF2BP2 HP_LYMPHOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOPROLIFERATIVE_DISORDER MYD88 CD27 ZAP70 IL2RG MCM4 NRAS CD70 KRAS HP_SPONTANEOUS_HEMOLYTIC_CRISES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMOLYTIC_CRISES SLC4A1 SLC2A1 SPTA1 EPB42 GPI SPTB ANK1 HP_BONE_MARROW_HYPOCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPOCELLULARITY VPS33A ACD MYSM1 NHP2 TERT ERCC6L2 SBDS TINF2 FLI1 NOP10 WDR19 UBE2T PARN RTEL1 FASLG FANCF CASP10 TGFB1 FAS NBN SF3B1 TERC DDX41 BRIP1 TBXAS1 RASGRP1 IFNG TET2 NPM1 WRAP53 FANCI FANCL DNAJC21 PRF1 IVD DKC1 RPS14 MAD2L2 USB1 ERCC4 CTC1 PGM3 SRP72 SRP54 PRKCD CLPB BRCA2 RPL26 GATA2 CLCN7 PIGA EFL1 LBR HP_MYELOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPROLIFERATIVE_DISORDER TET2 ABL1 THPO SRSF2 CBL PDGFRB MPL PDGFRA SH2B3 RUNX1 JAK2 CALR GATA1 BCR GATA2 ASXL1 HP_ABNORMALITY_OF_THE_METOPIC_SUTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE PDX1 ABCC8 SMARCD1 RTTN SIX2 ASXL1 HNRNPU NOTCH3 SC5D PPP2R1A CDK8 TWIST1 ERCC6 FOXG1 LMX1B KCNQ1OT1 KCNJ11 PLAGL1 ADSL SETBP1 ERMARD NUP188 INS FREM1 SMG9 GNPTAB HERC1 GCK ERCC2 CDKN1C ERCC5 KLHL7 STAT3 ERCC1 ZFP57 PTCH1 INTU TBCK KCNQ1 KANSL1 HYMAI STXBP1 IGF2 FGFR2 KDM5B CDC6 SON ACTG1 ACTB ADAMTSL1 GLI3 MAF WDR35 HP_CHRONIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LEUKEMIA IFIH1 TET2 ABL1 TREX1 SRSF2 RNASEH2A CBL SAMHD1 RNASEH2C BCR RUNX1 PIK3R1 ASXL1 WIPF1 JAK2 KIT MPL ADAR THPO RNASEH2B WAS HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS HBA2 CD151 HBA1 ATRX HBB HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY ACD MYSM1 NHP2 CBL TERT TCIRG1 NOP10 UBE2T STAT5B LIG4 RARA OSTM1 CASP10 PCCB SLCO2A1 TBXAS1 ATR DYNC2LI1 WRAP53 PML ADA2 GP1BA GNA14 MTRR MPL PRF1 RNASEH2A SCARB2 COQ2 CALR LRBA MAD2L2 CCND1 EVC TNFSF11 NAXD RUNX1 BCOR TP53 MAN2B1 MPIG6B GATA1 GBA TCN2 NRAS IRF2BP2 SH2B3 FANCC RFXAP VPS33A CD28 FARSB GATA2 ZBTB16 PCCA FLI1 DHFR TINF2 FASLG SP110 HAVCR2 FANCF ATM FAS NUMA1 MMACHC JAK2 MTHFD1 FANCI LYST XIAP RTEL1 SBDS EVC2 FIP1L1 ASXL1 SAMD9L CXCR4 ERCC4 SLC46A1 SRP72 NPM1 IFNG MRPS7 CLPB SRC PIGA CTC1 GFI1 LBR LPIN2 FANCD2 NLRC4 FANCE ELANE MMAA SRP54 LMBRD1 PRKAR1A XRCC4 TET2 STN1 IKZF1 MMAB SLC35A1 NABP1 COG6 RASGRP1 HLA-DRB1 RPS14 MMADHC PALB2 GFI1B FANCL DNAJC21 RAB27A NBEAL2 IVD DKC1 STAT3 PSTPIP1 GLI1 TNFRSF4 TBL1XR1 SH2D1A PGM3 ITCH TERC SRSF2 ERCC6L2 WDR19 PARN TALDO1 GP1BB RFXANK TGFB1 NBN SF3B1 DDX41 BRIP1 HOXA11 CIITA RFWD3 CTLA4 FANCA ITK GP9 MYC SLC7A7 CD27 HPGD USB1 SLX4 RFX5 PRKCD TNFRSF1B BRCA2 RPL26 CLCN7 EFL1 KRAS HP_MULTIPLE_RENAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_RENAL_CYSTS NOTCH2 BMPER JMJD1C DACT1 CCND1 LIMK1 RFC2 BAZ1B VHL SEC24C DZIP1L PEX13 UMOD TSC1 HIRA SEC63 STK11 GTF2I PKHD1 PRKCSH RREB1 TBL2 LRP5 SALL1 OCRL FLNB ELN TSC2 APC2 GP1BB ARVCF SETD2 PMM2 NSD1 GTF2IRD1 TBX1 CLIP2 UFD1 COMT COL4A1 HP_RENAL_MAGNESIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MAGNESIUM_WASTING CLDN16 FXYD2 SLC12A3 CLDN19 ATP1A1 IFT122 HP_HEMOLYTIC_UREMIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_UREMIC_SYNDROME CFB CFH ADAMTS13 PRDX1 MTRR CFHR1 DGKE MMACHC CFI THBD CD46 C3 CFHR3 HP_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CELL_CARCINOMA FOXE1 AAGAB MDH2 AKT1 PLA2G2A FLCN PIK3CA CDC73 COL14A1 CCND1 PTPRJ MINPP1 HNF1B TP53 TSC2 BUB1B KLLN OGG1 FH KEAP1 DCC DLST EP300 SDHB SDHAF2 VHL STK11 TSC1 IFNG RAD54B HNF1A NF1 MCC RNF139 SDHA BAP1 FGFR3 NOD2 MAX CTNNB1 BUB1 KIF1B PDGFRL AURKA HNF4A USF3 PTEN AXIN2 DLC1 RET TFE3 MET MITF HABP2 NRAS SDHC SLC25A11 TLR2 MLH3 DICER1 SDHD ODC1 LMNA BAX SRC APC SEC23B TMEM127 PRCC FN1 PTPN12 HP_SPOTTY_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPERPIGMENTATION BLM FERMT1 CRIPT SRD5A3 BANF1 HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS HFE UROD POLH OCA2 DSTYK HPS1 MC1R HP_PATCHY_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_PALMOPLANTAR_KERATODERMA KDSR GJB4 GJA1 GJB3 DSP HP_SPOTTY_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPOPIGMENTATION BLM UBE2A FERMT1 EBP CRIPT ABCB6 HP_GENERALIZED_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERKERATOSIS SDHB AKT1 PIK3CA SDHC KRT5 KLLN LMNA GJB6 SEC23B ZMPSTE24 GJB2 PTEN USF3 SDHD GJB3 FUCA1 KRT14 HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY CCDC39 RSPO2 FANCE RSPH1 CYBA ARHGEF1 CCNO DHCR7 SPAG1 LIMK1 SOX3 HAAO MGP FASLG MCIDAS BLNK KEAP1 BACH2 FANCL FGF20 NOP10 CD79A AFF4 RFWD3 SOX9 DNAH1 MAP3K7 MAP3K8 CD19 ERBB2 ELN TTC25 BRIP1 RIPK1 COL2A1 SFTPC IGHM CD79B CFAP221 EMC1 AMER1 CD81 ZIC3 WRAP53 RAI1 SLC29A3 DNAAF1 MYRF RPGR ATM STK36 LTBP3 CHD7 DNAH9 FAM13A STN1 DSP GMNN RSPH3 KRAS TERT OFD1 LRBA RSPH4A SLC26A4 NME8 GAS8 SEMA3E FANCF WDR26 CFTR KCNJ10 TNFRSF13B CCDC65 DCHS1 CFAP298 POLR1D HYLS1 ORC6 CTLA4 CFAP300 RAB3GAP2 HRAS TRIM2 ICOS TNFRSF13C CYBC1 ZNF341 BLM ERCC6 RSPH9 SPEF2 FOXI1 FANCG ZMYND10 SLX4 DICER1 DNAAF4 RASGRP1 FRAS1 SCNN1A IL21R FREM2 FANCB PAX3 ARMC4 SNRPB ABCA3 FANCI PRRX1 FANCD2 GREB1L DNAI2 FCGR2A FANCA NFKB2 NEK10 SFTPA1 KIF7 NCF4 CARMIL2 EGFR DNAI1 TGFB1 IQSEC2 FOXF1 CASP8 BAZ1B TAPBP RTEL1 PROKR2 XRCC2 DNAAF6 DNAH11 SFTPA2 CCDC103 GNPTAB SOX2 CXCR4 PIK3CA UBE2T LRRC8A TINF2 ADAMTSL2 EBP ATP11A LTBP4 SCNN1B GTF2IRD1 MUC5B BRAF IL2RG RAD51 SLC26A2 LBR SCNN1G IRF1 WNT3 DRC1 FANCM RFC2 SLC22A18 ERCC4 TAP1 FLNB FOXJ1 PCNT PIK3R1 CYP2A6 NFKB1 WNT7A GAS2L2 GTF2I TONSL IRF8 STAT1 NCF2 FGFR2 BMPER CCDC151 DNAL1 EXTL3 DEAF1 FBN2 FGFR1 MS4A1 TERC B2M CLIP2 POR HESX1 NPM1 LRRC56 MYCN RPL5 EHMT1 PDGFRB TCOF1 ERF NOTCH3 DNAH5 DNMT3B HYDIN RAD51C BRCA2 BTNL2 TTC12 CCDC40 RAC1 GRIP1 IDS PGM3 IL17RA POLR1C TRRAP DDR2 GLMN KIF22 ORC4 BRCA1 IGLL1 LRRC6 TAP2 CD8A FLII CYBB DNAJB13 PRKN HOXD13 CR2 ARNT2 MAD2L2 PARN FANCC FAT4 TBL2 OTX2 RMRP PIK3CD RIN2 DNAAF3 DNAAF2 PPP2R1B IL6ST TCF3 TNFSF12 DNAAF5 ITGA8 NCF1 AHDC1 NHP2 HLA-DRB1 HDAC4 NBN SPECC1L CCDC114 SMAD4 USB1 PRKCD CTC1 RET DPP9 DKC1 PALB2 IDUA FLNA HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR IDUA CANT1 RSPRY1 TBX4 COL2A1 SLC26A2 SLC39A13 WNT7A CFAP410 DDRGK1 FLNB PIK3C2A SHOX POLR3A GDF5 CHST3 AIFM1 IFNGR1 RNU4ATAC MMP9 SLC10A7 EXOC6B B3GALT6 ZBTB16 FGFR3 PEX5 COL11A1 FN1 CHD4 TMEM67 RUNX2 NANS COMP PUF60 TRAPPC2 BHLHA9 TBX15 TRAF3IP1 IFT140 TAPT1 XYLT1 IHH TRPV4 ALG12 POP1 AGPS CTC1 MATN3 POC1A BMPR1B HP_ACCELERATED_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_SKELETAL_MATURATION SLC35D1 BSCL2 CHST3 TET3 LEPR B3GAT3 POR B4GALT7 PRKAR1A DDOST TRPS1 MEN1 INPPL1 HSD11B1 GPC4 NFIX PDE4D GPX4 ASXL2 KCNQ1OT1 LHCGR RNF135 MAP3K7 RMRP EED GPC3 ACAN SUZ12 ALMS1 CAV1 APC2 NSD1 SLC10A7 H1-4 ABCC9 AGPAT2 CYP19A1 CDKN1C INSR PTCH1 HSD3B2 GPR101 EZH2 GLI3 CANT1 FOS SMC1A KCNQ1 PTH1R LEP SMARCA2 IGF2 CYP11B1 MKRN3 TSHR AIP KCNJ8 MC2R SETD2 XYLT1 ARCN1 PPARG CAVIN1 SHANK3 KMT2A FLNA HP_THORACOLUMBAR_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSIS FLNB CDH11 NPR2 EXTL3 LHX3 MGAT2 MAN2B1 FGFR3 SLC26A2 POP1 AMER1 GUSB GNPTAB HP_BROAD_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_LONG_BONES TWIST1 SLC35D1 FGFR1 DACT1 CHST3 GPC6 GJA5 DMXL2 PSMD12 FLNB GPC4 G6PC3 ADAMTS10 STXBP1 INPPL1 LIG4 SMO COL1A1 RBM8A KIF22 LMBR1 FGFR2 AMMECR1 PTEN GPC3 EP300 SUMF1 GDF5 NXN EXTL3 FGF9 PDE4D HHAT ZNF141 FGFR3 SHOX RNU4ATAC SLC26A2 B3GALT6 MED25 GLI3 SALL1 PIGP BMP2 GJA1 BMPR1A NPR2 EZH2 SALL4 HOXD13 COL1A2 FLNA RLIM CDKL5 SMARCA2 BPTF USP9X PRKD1 ADNP COL2A1 NSUN2 ROR2 CREBBP KCNJ8 OTUD6B DVL1 GNAO1 SCN2A DDR2 IFIH1 MSX2 SNIP1 NSD1 SLC25A22 ALX4 CASK KCNH1 PIGQ PACS1 TBX5 SRCAP RAB33B GATAD2B PNKP GNAS B3GAT3 FLI1 COL11A1 WDR19 GATA4 SIK1 CTCF EED GJA8 ACAN MEGF8 SUZ12 FBN1 KCNA1 SETD5 EFNB1 MED12 ABCC9 COL10A1 SATB2 BGN DVL3 RAB23 XYLT1 NEUROD2 NOG TRIM8 SHH PYCR2 EXOSC2 SMOC1 WNT5A IFT122 ARX SCN1B DNMT3A MEIS2 PUF60 HP_OSTEOPOROSIS_OF_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPOROSIS_OF_VERTEBRAE SOX3 GLI2 MRPS22 SPIDR LHX4 BMP15 HESX1 POLR3H PSMC3IP PROP1 OTX2 BNC1 FOXA2 NR5A1 NUP107 FSHR POU1F1 RUNX2 HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION GDF3 BMPER FGD1 VANGL1 CHN1 FUZ MAFB GDF6 MEOX1 FLNA SALL4 HP_POSITIONAL_FOOT_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIONAL_FOOT_DEFORMITY SNX14 HACE1 GLE1 CCDC47 CTBP1 GLI3 MYH3 HAAO B4GALT7 MYBPC1 NEK9 ARHGAP31 FBN2 FBN1 PLEKHG5 SOX9 AMMECR1 GPC3 SLC6A9 GCH1 FLNB NEB COL1A2 ERGIC1 CEP55 ATR ATRX COL2A1 CHRNG CHMP1A FGFRL1 BICD2 LIMS2 ALDH18A1 GSC SALL4 CC2D2A FKBP10 TRPV4 LGI4 PPP3CA KANSL1 AP4E1 ZSWIM6 DGCR8 MEGF10 PIEZO2 KIF1A COLQ DCHS1 ORC6 PI4KA GAN B3GALT6 HRAS TBX1 BMPR1B SLC35A2 ITGA8 PITX1 TMTC3 KDM5C FGD1 RPGRIP1 ESS2 HK1 HSPB1 MYMK DOCK6 ZC4H2 FLI1 MAN2B1 GPC4 COL6A3 MEGF8 RAD21 MCTP2 CEP290 ARVCF SLC26A2 DLL4 PRUNE1 H1-4 COG1 GZF1 KLHL7 DGCR6 B9D1 EXT1 CTU2 HBA1 MYH8 DONSON IGHMBP2 RYR1 RAI1 COG4 RBPJ VPS33B DST TAF1 FIBP TNNT3 TMEM67 KY MTMR2 GNPTAB COL5A2 WNT7A USP8 ATAD3A JPH1 HSD17B4 SMC1A PEX1 COG8 UFD1 LETM1 SH3PXD2B PYCR1 AP4B1 TBC1D23 RBM10 C12orf65 GTPBP2 ACTA1 NALCN DHCR24 C12orf57 NSD2 IRF6 SLC25A19 ERCC2 COMT GPX4 WDPCP DSE PEX5 ZFYVE27 GORAB JMJD1C PEX26 VANGL1 TP63 MAFB FKTN SCYL1 NOTCH1 MED13L DMPK HIRA TGFBR2 STXBP1 SMS NELFA SYT1 CRIPT CPLX1 OTUD6B DES RAB11B NDRG1 LMBR1 COL6A1 ARSI CHRM3 LMNA CSPP1 EZH2 DYM TCTN2 MKS1 B3GAT3 PEX2 FGFR2 FKBP14 FBXO7 GDF5 FAT4 ATP6V1E1 MYPN DGCR2 SNCA KIAA1109 TTN SBF2 KMT2A SATB2 TRPS1 RAB23 NT5C2 SEC24C DYNC2H1 TPM3 ERCC5 TMEM107 ALG8 ATP6V0A2 LAMB2 EVC2 RECQL4 SMAD3 TPM2 HDAC8 MFSD2A LIFR DHCR7 MSX1 SC5D CHST14 SHROOM4 SETBP1 TNNI2 TGFB3 TGFB2 PLOD2 PTEN AMER1 NIPBL SAMD9 SYNE1 ERCC1 HSPG2 PLOD1 CTDP1 SCARF2 RREB1 TWIST2 ZNF148 SPEG SEMA3E SELENON EXOC6B NECTIN1 CHD7 TMEM216 TMCO1 EIF2S3 RIPK4 RAB3GAP2 ALG12 SMC3 TRIM2 AP4S1 NKAP FUZ IHH PTRH2 TBX15 ANK1 ADGRG6 TAZ COQ8A RUSC2 COL3A1 BCOR LMX1B BIN1 UBE2A MYH7 CHN1 CCBE1 HACD1 DPYS RPGRIP1L ASXL1 SF3B4 ITGA7 SMOC1 NEK8 L1CAM EBP PLOD3 GP1BB REV3L PSAT1 ENTPD1 PMP22 CHST3 ADAT3 PLXND1 FGD4 EIF4A3 ERCC6 ALG3 BMPER KYNU HYLS1 MUSK UNC80 ATAD1 ESCO2 B9D2 COL12A1 COL6A2 AP4M1 ECEL1 STAC3 EHMT1 KAT6B PUF60 FOXG1 RSPO2 VIPAS39 BRPF1 CRLF1 IFIH1 CLTCL1 NSD1 ORC1 OFD1 SETD5 MYL2 TH MAP3K7 TRAIP COL5A1 EOGT ATP6V1A TGDS ERMARD SUZ12 RBM8A FA2H CANT1 GDAP1 TMEM231 TGFBR1 TBX4 SKI FLNA MAP3K20 PLA2G6 EVC NDE1 EED CTH WDR73 GUSB CD96 HBA2 HP_THORACIC_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSCOLIOSIS PYCR2 CHRNE CHRND AK9 SCN4A IARS2 RAPSN DES DOK7 COL13A1 LMNA CHRNA1 SOX5 ZMPSTE24 PCGF2 LRP4 AGRN SPRTN MUSK CHRNB1 HP_JUVENILE_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_RHEUMATOID_ARTHRITIS STAT4 HLA-DRB1 ANKRD55 PTPN22 IL2RA LACC1 CD247 ACP5 DCLRE1C PTPN2 IL6 MIF IL2RB HP_DISTAL_ARTHROGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_ARTHROGRYPOSIS TNNI2 CCDC47 FIG4 YY1 MYBPC1 ATAD1 PIEZO2 FBN2 ACADM CHST14 MED13L LGI4 GLI3 MYH8 SYNE1 HP_JOINT_HYPERFLEXIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERFLEXIBILITY EFEMP2 LOXL3 CCDC8 NOTCH2 FGFR3 COL18A1 NPR2 PRDM5 LIMK1 RFC2 SLC6A8 COL9A3 SMARCC2 PCNT NOTCH3 KAT6B WDR35 CEP152 LIG4 SLC9A6 GTF2I WDR19 A2ML1 IFT52 PTEN SMARCD1 RRAS2 HRAS TGFB2 ELN RPS6KA3 UPF3B RASA2 ATRIP PHF6 CLIP2 CRKL COMT C1R COL1A2 HNF4A C1S GMNN STAT3 GORAB COL9A1 PTCH1 JMJD1C IFT122 EZH2 WASF1 ORC6 MED12 FBLN5 ENPP1 CANT1 IFT43 CENPJ NFIX SOX11 HIRA ABCC9 BCR RREB1 ATP7A SEC23A HOXD13 KRAS COL5A1 FLNA HNF1B EXOC6B CTNND2 NSUN2 PTHLH ORC4 PAX2 SEC24D KIF22 TBX1 SLC26A2 SOS1 B3GALT6 LMNA NSD1 XYLT1 TONSL LZTR1 LONP1 FGD1 SRCAP PTPN11 C12orf57 SOX4 PLOD1 SEMA5A ZNF469 MRAS CUL7 COL1A1 PLK4 TRIP11 PIK3CA TAB2 SMARCB1 VPS13B TBL2 ALDH18A1 KMT2D RMRP RBBP8 ARID1A VPS37A RAF1 SUZ12 SKI DDRGK1 COL2A1 SMARCE1 TGDS TGFBR2 ORC1 CDC45 ARVCF PIK3R1 EFNB1 CDC6 COL9A2 XYLT2 NRAS MAPK1 EXT1 SATB2 TRPS1 ABCC6 RYR1 COL5A2 PTDSS1 SLC2A10 RIT1 OBSL1 ATR TRAIP ARID2 BAZ1B HDAC4 FBN1 SEC24C UBE3A SMARCA4 GDF5 TNXB CDT1 CBL SIN3A RRAS COL11A1 COL3A1 OCRL CUL4B SMOC1 TGFBR1 ZDHHC9 KDM6A LMX1B GP1BB COMP GTF2IRD1 FLNB ADAMTS2 UFD1 ANTXR1 SOS2 EED B4GALT7 DPF2 PYCR1 CENPE ARID1B P4HB HP_MULTIPLE_ENCHONDROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ENCHONDROMATOSIS POLR1D COL2A1 IDH1 PTPN11 TCOF1 IDH2 POLR1C PTH1R HP_LETHAL_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHAL_SKELETAL_DYSPLASIA COL2A1 WDR34 TRIP11 DYNC2H1 PTH1R IFT80 WDR60 SLC26A2 WDR35 LBR HP_SHORT_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_TIBIA LIFR SHOX SHH BMPR1B GLI3 GPC6 INTU NEK1 EIF4A3 LMBR1 TCTN3 FLNB SMOC1 HYLS1 GDF5 IHH ALG12 ZBTB16 DONSON SLC35A2 HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS TRPS1 DVL3 TRPV4 COL2A1 ATP7A EP300 FZD2 UFSP2 SLC2A10 DVL1 CREBBP INPP5K SIL1 COL1A1 WNT5A ADAMTS2 COL1A2 COMP EXT1 HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS PIGY LIFR GMPPB ERLIN1 NALCN RNU4ATAC GLI3 ANO5 SDHAF1 PDX1 RTTN COL6A2 MYBPC1 SGCA ABCC8 FKRP ACTA1 ADAT3 FKBP10 FBN2 SRD5A3 SDHA NGLY1 LMNA PPP2R5D ALG2 EMD ZBTB20 KLHL9 FGFR3 DPAGT1 SLC6A9 C19orf12 PIK3R2 TMEM43 KCNJ11 NEB UNC80 GNPTAB SLC25A19 ESCO2 PHF6 GCK COL12A1 SPEG SLC10A7 AMER1 STAT3 SYNE2 CHRNG DDHD2 ZFP57 HLA-DRB1 BICD2 NOD2 COL6A3 GJB2 PNPT1 HSPG2 PIEZO2 ERCC6 PLOD2 KAT6B KY ERLIN2 LGI4 RPL10 SCARF2 SPG11 SELENON TELO2 PTDSS1 TNNT1 SLC39A8 WDR26 DAG1 DDR2 SDHB BIN1 NT5C2 HRAS TRIM2 SYNE1 DPM1 MMP2 MYL2 MAP3K7 FIG4 COL6A1 ZC4H2 KCNK9 FLNA FKTN CCN2 POMT1 IRF5 HINT1 BCOR SIK3 FHL1 PLAGL1 ATP6V1E1 LARGE1 OPA1 INS KIAA0319L F8 CAPN3 MYH3 CPT2 TTN CAV1 PSMB8 TPM2 COL2A1 CRPPA PTH1R MT-TE TRPV4 PIGN BRF1 HUWE1 SGCG SLC18A3 RYR1 TPM3 NSUN2 GJB1 HACD1 MYO9A ABHD12 GFPT1 CNTNAP1 CCR6 HYMAI PLEC ITGA7 TOR1AIP1 ANKLE2 MAP3K20 ALS2 PSAT1 SPTBN4 SDHD ALG14 MYOT ERCC1 BAG3 SLC26A2 HP_BASILAR_IMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASILAR_IMPRESSION ZBTB20 COL1A1 COL1A2 NOTCH2 DKK1 HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA LIFR SHOX SHH BMPR1B GLI3 GPC6 BHLHA9 INTU DYNC2H1 NEK1 LMBR1 ZSWIM6 EIF4A3 TCTN3 FLNB ATP7A SMOC1 HYLS1 GDF5 IHH ALG12 ZBTB16 DONSON SLC35A2 HP_GENERALIZED_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOSCLEROSIS CLCN7 SOST LEMD3 PLEKHM1 DHCR24 LRP5 TCIRG1 PTH1R HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES TGFB1 TBCE MAN2B1 COL1A1 FAM111A HP_SHORT_MIDDLE_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_FINGER ROR2 PHF6 GDF5 IHH TRPV4 PCNT GATA1 GJA1 BMPR1B FGFR2 FGFR3 IFT57 HOXA13 EIF2AK3 DVL1 KMT2D SLC26A2 IGF2 PDE4D VAC14 FGFR1 HOXD13 COL10A1 BMP2 TFAP2B KMT2A INTU RUNX2 GMNN NIN BMP4 PUF60 WNT5A COL2A1 RBBP8 KDM6A DVL3 FIG4 MIR17HG HP_MULTIPLE_PRENATAL_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_PRENATAL_FRACTURES ASCC1 LMOD3 CRTAP TAPT1 TRIP4 TPM3 COL1A2 PPIB NEB ACTA1 KLHL40 KLHL41 P3H1 COL1A1 LBR HP_PSEUDOARTHROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOARTHROSIS MYF5 MET EFNB1 NF1 SRCAP ZMPSTE24 FGFR1 LMNA WNT7A HP_METAPHYSEAL_CHONDRODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CHONDRODYSPLASIA RMRP MMP13 FGFR3 HDAC6 CWC27 AIFM1 SBDS PTH1R GPX4 COL10A1 SRP54 DNAJC21 HP_PROGRESSIVE_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_FLEXION_CONTRACTURES SYT1 MED12 ANTXR2 ESCO2 PRUNE1 AIMP1 GCH1 HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES KCNK9 COL12A1 ADAT3 MORC2 CAPN3 PRG4 PIEZO2 HP_ABNORMAL_CERVICAL_CURVATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_CURVATURE FLNB CHRNG CHRNA1 SLC26A2 CHST14 CHRND DSE RIPPLY2 HP_BILIARY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_ATRESIA TMEM67 GATA6 RFX6 LONP1 INPP5E ERCC4 ZIC3 RPGRIP1L CC2D2A HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES BGN FGFRL1 IHH CTBP1 CPLX1 NSD2 RPS6KA3 PCNT NF2 LETM1 GPX4 SALL1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES RSPRY1 GLI3 FLNB PCNT PLXND1 HOXD13 RECQL4 EIF4A3 COMP GNAS LTBP3 SETBP1 FBN1 PEX7 EXT1 RPS6KA3 GDF5 EXTL3 GNAS-AS1 PDE4D HHAT CHST3 TP63 GPX4 PORCN RNU4ATAC SLC26A2 B3GALT6 NIPBL IFT80 COG4 B3GLCT RMRP SIL1 SALL4 BPNT2 EXT2 BMPR1B NPR2 RUNX2 IFT52 COL2A1 ACVR1 COL11A2 LMBR1 PTCH1 FLNA PDE3A TWIST2 VPS13B TRPS1 HOXA13 SRY LONP1 SHOX BMP2 LBR PTHLH FGFR1 DCHS1 DDR2 CHSY1 PCYT1A RAB3GAP2 STX16 CD96 FIG4 SMC3 NHS POC1A DYM SMARCA2 SETD5 COL9A3 NOG MAP3K7 RAB33B FZD2 DONSON PRKAR1A PHYH MYSM1 P3H1 TRIO WNT7A ROR2 RAD21 KCNJ2 CANT1 PTCH2 SLC39A13 FERMT1 VAC14 KMT2A PRMT7 FANCI PIGS BGN IHH HDAC4 XYLT1 CWC27 PTH1R FBXL3 FAT4 ADAMTSL2 SHH REV3L SMC1A DNMT3A HDAC8 TRIP11 SUFU HP_ABNORMAL_METACARPAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METACARPAL_MORPHOLOGY RSPRY1 GLI3 TCTN3 GDF5 RECQL4 COMP MAP3K7 LTBP3 SETBP1 PEX7 FLNB RPS6KA3 HHAT TP63 PORCN CPLANE1 RNU4ATAC B3GALT6 FBLN1 NIPBL IFT80 HOXD13 COG4 B3GLCT TCF12 SALL4 BPNT2 MMP14 LRP5 CHST3 RUNX2 IFT52 BHLHA9 COL11A2 PTCH1 FLNA PDE3A SCARF2 TWIST2 HOXA13 LONP1 SHOX BMP2 LBR COL2A1 BMPR1B PTHLH FGFR1 DCHS1 CHSY1 LMBR1 RAB3GAP2 FIG4 SMC3 SMARCA2 GNAS MMP2 NOG RAB33B GALNS DONSON PRKAR1A IHH PHYH MYSM1 FGF16 P3H1 NEK1 GLB1 ROR2 RAD21 KCNJ2 NFIX SLC39A13 PRG4 PRMT7 FANCI FGFR3 PTH1R FBXL3 FBN1 WNT7A ADAMTSL2 SHH DYM REV3L SMC1A NONO SMOC1 PCNT ADAMTS10 FAM149B1 PLXND1 EIF4A3 EXT1 EXTL3 GNAS-AS1 PDE4D GPX4 SLC26A2 SPARC RMRP SIL1 EXT2 KIF7 NPR2 KIAA0753 ACVR1 VPS13B TRPS1 SRY DDR2 KIF22 IFIH1 ZIC1 PCYT1A STX16 CD96 NHS FGF9 POC1A SETD5 COL9A3 FZD2 TRIO TMEM216 CANT1 PTCH2 FERMT1 VAC14 KMT2A PIGS BGN INTU OFD1 HDAC4 XYLT1 CWC27 FAT4 TWIST1 DNMT3A HDAC8 TRIP11 SUFU PDE6D GUSB HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY TWIST1 CTBP1 GLI3 PHF6 CLCN4 KCNAB2 ARHGAP31 WDPCP ARID1B COMP LMBR1 GPC3 EDA2R UPF3B SOST CC2D2A FGFR2 BRIP1 TRPV4 TP63 TMEM138 IFT80 MED25 DYNC2LI1 SALL4 FGFR3 GJA1 SMO CHD7 ARHGEF6 KMT2A BANF1 COL2A1 SF3B4 WDR35 COL11A2 PTCH1 DSP RUNX2 BPTF NUP133 USP9X MEGF10 B9D1 TRIM32 FGFR1 ARX MYH8 SETBP1 RAI1 SLC35A2 TFAP2A KCNH1 ROR2 SEMA3E CCN6 RPGRIP1 RAB33B INPP5E GATAD2B PIEZO2 GNAS BBS2 TCTN2 SLX4 NEK1 ESCO2 NUP107 SUFU CHRNG DVL1 KMT2D SMARCB1 BBS4 PAX3 RAD21 CAPN3 NFIX CEP290 RPS6KA3 ARL3 AKT3 PSMB8 FANCA KLHL7 WFS1 TBR1 FANCI IGHMBP2 RAB23 COG4 TCTN1 EVC2 XRCC2 TMEM67 WDR19 OFD1 NTNG1 SOX9 EBP PIK3R2 ARL13B ACTL6B WNT5A CEP104 UFD1 LETM1 COL6A3 FANCB LEMD3 GDF5 KIAA0586 MEGF8 SH3PXD2B MYH3 GPKOW MIR17HG PIGY ATP6V1B2 SH2B1 FANCM FANCE RAB3GAP1 ERCC6 GPC4 EP300 LFNG SUMF1 ALX3 ARMC9 EXTL3 DEAF1 ERCC2 COMT ACTG2 DOK7 CLCN7 BMPR1B NPR2 EFTUD2 MAFB GLI1 PCGF2 NOTCH1 HIRA BCR CEP41 IQSEC2 TGFBR2 RETREG1 CRIPT PTDSS1 CPLX1 CREBBP OTUD6B WDR34 ZNF41 FKTN EZH2 ALX4 NALCN TBC1D24 NSD2 C8orf37 MKS1 TRPS1 FZD2 KCNK9 MAD2L2 ZMPSTE24 ARSL GATA4 SYP HINT1 GJA8 ACAN DYNC2H1 FBN1 SMARCE1 SLC9A7 CHSY1 MED12 PIBF1 BLM IHH NOG PTEN ARID2 XYLT1 EVC ALX1 LRP4 IFT122 CWF19L1 TPM2 DNMT3A HDAC8 PALB2 PDE6D HOXA13 DHCR7 MGP RTTN COL6A2 SC5D IFT172 TCTN3 EIF2AK3 RECQL4 NGLY1 SMARCD1 HES7 CCDC28B HHAT MSX2 PIGL CPLANE1 B3GALT6 KIF7 ZIC3 SALL1 HCFC1 PRDM16 ERCC1 FLNB BBS5 FTSJ1 KIAA0825 LMNA GMNN IFT52 HOXD13 BHLHA9 CANT1 PDE3A MBTPS2 RREB1 IFT140 GJB6 PAH MKKS TMEM216 TMCO1 MACROH2A1 FANCC NXN TBX5 TNNI2 TMEM107 ANTXR2 IFT57 WDR60 EED MECP2 PPP2R3C ASPN KCNJ2 SLC25A24 FANCD2 CNKSR2 PRG4 ERCC5 IKBKG COL10A1 RIPK4 LIFR DVL3 FLNA LAMC2 IL11RA NAA10 UBA1 SIN3A BCOR SHH PIGO EXOSC2 SMOC1 ZDHHC9 RBBP8 GP1BB ACTG1 BBS12 RAD51 SLC26A2 PTCHD1 ACSL4 JAG1 SLC16A2 CRLF1 HPGD PCNT LAMA3 ADAT3 LIG4 IFT27 SDCCAG8 HYLS1 MUSK KIF15 ERGIC1 CHST3 RNU4ATAC CRKL ZBTB20 BBS7 PIGV IFT43 ALG13 KAT6B RLIM ADAMTS3 RAD51C PUF60 GNPTAB PAK3 PRKD1 GLI2 PITX1 TBX1 DLL3 BBS1 CD96 POC1A FLII RPGRIP1L SETD5 COL11A1 FRMPD4 CCDC22 MYOD1 MATN3 TFAP2B EOGT KDM5C NPHP1 PIGW DMD PRKAR1A SLC35A3 GABRD SMARCA4 ITGB4 TGFBR1 AHI1 CUL4B RPL11 RPS19 LAGE3 FAT4 TBX3 PLAA ZNF81 PDGFRB TMEM231 GJA5 B4GALT7 FBN2 FANCL DDX59 AMMECR1 MAP3K7 ARL6 CTSK CEP55 ATR PORCN RAB39B FGFRL1 BMP2 ORC6 WDR4 SOX11 AEBP1 ERCC8 COL17A1 NLRP3 IL1RAPL1 SNIP1 SMARCA2 MMP2 FGD1 SRCAP DOCK6 FLI1 L1CAM PIK3CA TMEM70 C2CD3 SKI MCTP2 PIGN EMG1 NOD2 ARVCF DLL4 COL6A1 MID2 MAPK1 EXT1 INPPL1 RBPJ SLC18A3 ATL3 TSPAN7 WNT7A STAMBP EDA UBE2T SMC1A TMEM237 CCND2 TTC21B RBM10 ERCC4 PSMD12 ADAMTS10 TWIST2 BBS10 ACOX1 BBS9 GPX4 MTOR NHS MYCN JMJD1C COL12A1 RPL5 CEP120 WNK1 ACVR1 LZTFL1 OSGEP CDKL5 BRCA2 NELFA GGCX NSUN2 DDR2 BRCA1 FGF9 CSPP1 DYM PHF8 SMARCAD1 DLX5 SOX4 ZNF711 B3GAT3 PNPLA6 RMRP ARID1A GDI1 RAB3GAP2 POLR3A CDC45 EFNB1 CDC6 PTCH2 CCBE1 SATB2 PIGS PDE4D INTU SEC24C BMP4 PYCR2 PGAP2 MEIS2 NUP88 TTC8 RIPPLY2 SMARCC2 G6PC3 RBM8A RFWD3 CIBAR1 SMG9 CLCF1 NIPBL TUBB3 CHST11 CXorf56 FRAS1 FANCF ADNP LONP1 PEX6 PTHLH MESP2 ADAMTS2 FAM149B1 FIG4 SMC3 FANCG RERE KIAA0556 COL3A1 DHODH RPL15 GABBR2 ORC1 TPRKB SLC39A13 MORC2 ABCC9 CTSC LAMB3 CHN1 ABCA12 NIN DPYS ASXL1 ADAMTSL2 FGF10 ZNF423 DPF2 RAPSN LBR NOTCH2 DACT1 GATA1 EIF4A3 KIF22 OCRL USP27X STXBP1 UNC80 ZNF141 B9D2 COG5 BMPR1A KIF1A KIAA0753 AGTR2 KCNJ8 ORC4 IFIH1 WDR73 NSD1 WASHC5 PACS1 TP53RK CTDP1 SMAD3 DLG3 TRIO TGDS SUZ12 IGF2 FERMT1 VAC14 MYBPC1 SCN9A TNNT3 PTH1R BGN BBIP1 CWC27 CDT1 ATRX IDUA KDM6A PGAP3 ACTB TRIP11 PEX1 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 BGN FGFR3 IHH RAB23 NPR2 COG4 KCNH1 RUNX2 MGP IFT52 ERCC6 NEK1 BMPR1B IFT172 TRPS1 GDF5 EIF2AK3 COMP ATRX ERCC8 FLNA IFT140 COL2A1 EVC SRCAP KIF15 EVC2 PRKAR1A ATR GPX4 TRIP11 EXT1 RMRP DYM HP_ABNORMAL_HAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_MORPHOLOGY KMT2D GLE1 PIGY CTBP1 LRP4 PHF6 CLCN4 INSR NEK9 WDR35 ARHGAP31 ARID1B COMP MAP3K7 COG7 GPC3 SLC6A9 EDA2R NEB CTSK MOGS TRPV4 PORCN HOXD13 MED25 DYNC2LI1 RAB39B SALL4 NSD1 FGFR3 FGFRL1 MMP14 GPR101 IFT122 MAPT CHD7 ARHGEF6 KMT2A RUNX2 MYH3 PTCH1 DSP SOX11 EVC ROR2 COL2A1 ARX PI4KA FIBP GAN IL1RAPL1 SHANK3 SLC25A22 SETBP1 BMPR1B TFAP2A KDM5C KCNH1 SEMA3E MGP PIGQ CHRND BSCL2 RMRP DOCK6 ESCO2 GPC4 COL7A1 L1CAM BCOR DVL1 RAD21 MCTP2 NFIX DHODH PIGN DLL4 RPS6KA3 MID2 KDM1A TBR1 MAPK1 MASP1 FANCI CTU2 LAMB3 NOG PHGDH RBPJ DST EVC2 TNNT3 FOS TSPAN7 MMP1 STAMBP EDA SUZ12 HERC1 EBP ACTL6B WNT5A AGPAT2 SMC1A PPARG LETM1 GDF5 PIGV MIR17HG ATP6V1B2 DMXL2 FANCE CHRNG GTPBP2 GJA1 MEN1 COL17A1 BICD2 NALCN ACAN NSD2 SIN3A CUL7 MMP2 GPX4 MTOR FGFR1 PIGP CLCN7 RPL5 BMP2 ACVR1 FLNA NOTCH1 CNTN1 BCR LAMC2 IQSEC2 NELFA CRIPT GGCX CPLX1 AIP RAC1 TMEM94 GNAO1 RAD51C ZNF41 EZH2 PHF8 TBC1D24 SOX4 ZNF711 ADAMTS10 TRPS1 FZD2 FGFR2 ARSL FGD1 SLC25A24 KDM6A WDR19 SYP KIT SDHB PACS1 ARID1A ATP6V1E1 GDI1 KCNA1 CAV1 SMARCE1 SLC9A7 KIAA1109 CDKL5 PTCH2 RECQL4 PIGS RPL10 IHH ITGB4 TFAP2B USP9X INTU ARID2 TNNI2 CCDC22 NEUROD2 ZMPSTE24 BMP4 GNAS TPM2 POLR3A MED12 HDAC8 BRCA2 PGAP2 MEIS2 SDHC ASAH1 HOXA13 ASNS SMARCC2 STXBP1 UBE2T EIF2AK3 FTSJ1 SMARCD1 SLC26A2 HESX1 UPF3B SMG9 WIPI2 RNU4ATAC NIPBL SAMD9 LAMA3 COG4 HCFC1 CHST11 PUF60 LMNA GMNN IFT52 BHLHA9 CXorf56 TCTN3 PEX6 TBX3 PTHLH SCN2A CDK5 ABCA12 FIG4 SMC3 PRKDC CASK FANCC NXN IFT57 SMARCB1 ALOXE3 EED PSMD12 CNTNAP1 CNKSR2 AIFM1 APC ABCC9 IKBKG COL10A1 SMARCA4 NIN TRIM8 MECP2 PIGO RBBP8 DVL3 CAVIN1 DPF2 PTCHD1 ACSL4 NOTCH2 JAG1 ATN1 FANCD2 PCNT GATA1 EIF4A3 FLNB MECOM USP27X KIF15 DHCR7 PDE4D CHST3 IRX5 CRKL ZBTB20 PIGL PALB2 PTF1A LTBP2 IFT43 ALG13 AGTR2 GLI1 PAK3 SPART KCNJ8 FBN1 TBL1XR1 PCYT1A SCYL2 POC1A OFD1 SETD5 OBSL1 CHRNA1 FRMPD4 PNKP DLG3 EOGT SIK1 PIGW DMD IGF2 BRIP1 CANT1 VAC14 MYBPC1 FANCA CWC27 PSAT1 SMAD4 SLX4 RPL11 PGAP3 RPS19 SCN1B SUFU WDR73 ZNF81 LMNB2 PEX1 ALOX12B HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY CCN6 RSPRY1 DYNC2LI1 SMARCAL1 CTBP1 RNU4ATAC PRDM5 BMPR1B SDCCAG8 MGP MMP13 CEP152 IFT172 ESR1 TRAPPC2 GDF5 EIF2AK3 PEX16 NPHP3 COMP CLCN5 LTBP3 PEX7 FLNB RPS6KA3 CTSK SHOX GUSB SCN9A SRCAP FGF9 SLCO2A1 PIGL COL2A1 SLC10A7 ATR B3GALT6 COG4 SALL1 FGFR3 FGFRL1 FZD2 CYP2R1 CHST3 ORC6 DYM HSPG2 PEX26 RUNX2 IFT52 PEX1 WDR60 COL11A2 PEX5 ACAN NSDHL SMARCA2 ERCC8 DDRGK1 IFT140 PEX6 EXOC6B LONP1 KIF7 PEX3 SLC26A2 CYP27B1 CEP290 PEX19 FBN1 CANT1 TONSL KCNH1 CYP19A1 RAB33B HSPA9 GALNS ZNF469 RMRP PRKAR1A IHH LMBR1 PHYH PEX10 NEK1 MAP3K7 HOXA13 TRIP11 GLB1 CDKN1C MATN3 MIR140 PEX13 ORC1 TMEM165 COL11A1 AIFM1 KIAA0586 CKAP2L COL9A2 SLC39A13 INVS TRPV4 TCIRG1 GNPAT PEX12 COL10A1 EXT1 ARSB INPPL1 SLC2A10 RAB23 TNFSF11 PCNT EXTL3 NSMCE2 COL9A1 SNX10 WDR19 OFD1 PTH1R CLCN7 THRB OCRL ATP7A PEX2 TBX4 ADAMTSL2 EBP PLOD3 NPHP1 IFT80 ADAMTS2 LETM1 SBDS PEX11B RPL13 FLNA TYROBP PYCR1 CENPE LBR TTC21B PEX14 LOXL3 PORCN NPHP4 TREM2 DYNC2H1 MMP9 ACP5 INPP5K COL9A3 SIL1 ERCC6 NF2 PTPN11 KIF22 SRP54 EP300 NSD2 DVL1 CA2 KIF15 DHCR7 PDE4D ATRIP GPX4 COL1A2 RETREG1 GMNN GORAB SMAD4 NPR2 WNK1 VDR MAFB NEU1 CENPJ CEP164 NANS TRPS1 DVL3 GGCX CPLX1 CREBBP ORC4 DDR2 NKX3-2 IFIH1 PIK3R1 POC1A GNPTG WNT5A UFSP2 ARSL IQCB1 PLK4 KIF1A SIK3 RBBP8 TGDS CDC45 WDR34 CDC6 RET DNAJC21 TRAF3IP1 CSPP1 BGN LEMD3 TRAIP XYLT1 COL1A1 NOG CDT1 HPGD ATRX IDUA EVC SNRPB IFT122 EVC2 SLC34A3 AGPS PDE3A CEP120 HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION BSND OSTM1 COQ7 PKHD1 NIPBL INVS HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY DNAI1 DNAL1 CCDC39 DNAAF2 RSPH9 CCDC40 CCDC151 DNAAF3 DNAAF5 NME8 DNAAF1 RSPH4A ARMC2 CCDC114 CCDC103 CFAP300 ZMYND10 LRRC6 CFAP298 HP_RESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ARREST MYO9A SLC5A7 SLC2A10 KIT SYT2 VAMP1 COL13A1 SLC18A3 AGRN CPT2 SLC25A1 SLC25A20 HBB SNAP25 LAMP2 TSPYL1 GPX4 CHAT HP_MULTIPLE_PULMONARY_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_PULMONARY_CYSTS FLCN SFTPC ABCA3 FAM13A STN1 DSP RTEL1 TERT ATP11A TERC PARN DPP9 TTC7A MUC5B SFTPA1 SFTPA2 HP_APNEIC_EPISODES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_IN_INFANCY ACADSB SCN5A FBP1 SCN4A NACC1 HP_DECREASED_PULMONARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PULMONARY_FUNCTION SMARCB1 CFTR SMPD1 BAP1 PLOD1 SUFU PDGFB PIK3CA TERT SCNN1B SCNN1G AKT1 SMO SLC34A2 COL6A2 SMARCE1 NF2 GUSB SCNN1A TRAF7 HP_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREATHING_DYSREGULATION NDUFS6 ASCL1 AHI1 CEP290 TMEM216 KYNU RPGRIP1L RET TMEM67 INPP5E ELP1 PHOX2B HP_TEMPERATURE_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPERATURE_INSTABILITY ALG11 VPS11 HERC2 NPAP1 SNORD116-1 MKRN3 MAGEL2 PSAP SNRPN PWAR1 GALC SLC25A19 SPR PWRN1 DDC SLC18A2 SNORD115-1 NDN HP_TYPE_II_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_DIABETES_MELLITUS IGF2BP2 ABCC8 CNGA1 LIMK1 DHDDS RFC2 SLC2A2 AMACR PCNT EYS PDX1 KIZ MEN1 SPINK1 REEP6 RGR PRPF6 GTF2I XRCC4 KIAA1549 PRPF8 DHX38 LIG4 IDH3A ELN MT-TF PTPN1 GUCA1B NEK2 PDE6G CTNNB1 CLCNKB SNRPN WFS1 PWAR1 MAK HMGA1 CLIP2 RHO BBS2 KCNJ11 ATM RP9 PPP1R3A DMXL2 PAX4 TOPORS TCF7L2 KLHL7 HNF1A IDH3B RDH12 ZNF408 SCAPER ABCA4 RLBP1 C8orf37 BRAF AKT2 MT-ND1 MT-ND4 ARL2BP PLCD1 PDE6B GCK CERKL NRL MT-CO1 MT-TE MTNR1B AIP MT-TW NPAP1 MKRN3 MT-TQ MT-ND5 LMNA MT-TK PROM1 NEUROD1 IRS2 PRPF3 USH2A RP2 SPATA7 MOG MT-ND6 IMPDH1 BLM CYP19A1 IFT172 SLC7A14 ALMS1 PRCD SNORD116-1 CAT MT-TL1 PNPLA6 FAM161A RPE65 FBN1 AGBL5 WRN PRPH2 ROM1 TBL2 MT-CO3 PRPF4 CA4 TUB CEP19 RPGR TTC8 SEMA4A POLR3A ARL3 BEST1 LRAT NR2E3 CRX TULP1 SNRNP200 IFT88 POLA1 PWRN1 NDN PCARE AR INSR FSCN2 RETN MT-CO2 STUB1 MC4R ENPP1 MERTK RBP3 CNGB1 LIPC ZNF513 BAZ1B MT-TS2 GPD2 PPARG AHI1 HGSNAT IMPG2 IFT140 POMGNT1 KLF11 IRS1 HNF4A SAG PRPF31 HNF1B HERC2 PEX10 GLRX5 OFD1 SLC30A8 ARHGEF18 MAGEL2 RP1 MAPK8IP1 ARL6 GTF2IRD1 CLRN1 AHR SLC12A3 MT-TH PDE6A CDHR1 SNORD115-1 CRB1 HP_LIMITATION_OF_NECK_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_NECK_MOTION GABRA1 TBK1 PCDH19 TICAM1 NEK9 TLR3 NDE1 TRAF3 LMNA DKK1 SCN1A SCN9A SELENON MEOX1 MYH3 STXBP1 NOG TTN MYH7 COL2A1 GDF6 SCN2A IRF3 GABRG2 COL6A2 SCN1B UNC93B1 HP_CONGENITAL_MUSCULAR_TORTICOLLIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_TORTICOLLIS COL6A1 GDF3 MEOX1 ERGIC1 COL12A1 COL6A3 PPP2R5D GDF6 COL6A2 HP_REDUNDANT_NECK_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_NECK_SKIN TBX15 MRPS22 ATP6V1E1 CSPP1 MRPS16 ATP6V0A2 ATP6V1A PEX1 KIAA0586 VAC14 FIG4 HRAS CEP55 HP_THYROID_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_HYPOPLASIA TSHR PAX8 NKX2-5 TCOF1 POLR1C POLR1D KAT6B ADAMTSL1 SLC26A4 NSDHL GLI3 HP_NODULAR_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NODULAR_GOITER FOXE1 KEAP1 DICER1 MMP2 RET MMP14 SASH1 HABP2 ALMS1 MINPP1 HP_URETERAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_OBSTRUCTION BRF1 DSTYK KMT2D CDH11 SIX1 DHCR7 YY1 FLNA HOXA13 TBX18 MAP3K7 HLA-DPB1 SETBP1 SIX5 HLA-DPA1 PTPN22 EYA1 HNF1B CTLA4 GRHPR KDM6A SLC26A1 ATP7A PIGL PRTN3 PIGT HP_Y_SHAPED_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_SHAPED_METACARPALS TMEM216 KIF7 INTU OFD1 KIAA0753 FAM149B1 NEK1 GLI3 CPLANE1 TCTN3 PDE6D HOXD13 HP_PALMAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_HYPERHIDROSIS LAMC2 PERP MBTPS2 COL17A1 PLAA RSPO1 ITGB4 SERPINB7 KRT17 LAMA3 CTSB WNT10A TRPV3 LAMB3 HP_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SYNDACTYLY BMS1 TWIST1 RIPPLY2 FANCE LRP4 GLI3 DHCR7 PHGDH RTTN WDR35 ARHGAP31 WDPCP FANCL SMO PTEN RBM8A RFWD3 LMBR1 WNT10B GPC3 HES7 CDH1 GJA1 SOST BRIP1 FGFR2 HOXD13 MED25 SALL1 FZD2 IFT122 BBS5 NOG KIFBP SALL4 PIEZO2 BHLHA9 GDF5 FRAS1 GJB6 TRIM32 FANCF ROR2 HOXA11 MESP2 DCHS1 MKKS KIF7 RIPK4 NECTIN1 SEM1 FGFR3 NXN TP63 FGD1 TBX5 MKS1 FANCG SEMA5A DOCK6 SLX4 FLI1 NEK1 ESCO2 FLNB GPC4 PIK3CA CHRNG FREM2 DHODH BBS4 PAX3 MEGF8 FANCI NEK9 FANCD2 DLL4 CKAP2L FANCA APC ABCC9 CDH3 IKBKG PTDSS1 SPECC1L RBPJ NAA10 XRCC2 UBE3A CCBE1 OFD1 BCOR SHH WNT7A SF3B4 UBE2T SMOC1 FGF10 REV3L MECOM BBS12 CEP290 FANCB CTNND1 MYH3 RAD51 PORCN FGFR1 RBM10 FANCM ERCC4 PLXND1 IFT27 WDR19 BBS10 SDCCAG8 IFT52 LFNG ERF DVL1 IRF6 BBS9 BBS2 BBS7 EZH2 ITGB4 LZTFL1 IFT43 RPL10 NOTCH1 ADAMTS3 RAD51C BRCA2 AKT1 DVL3 CTNND2 KCNJ8 GRIP1 DLL3 BBS1 BRCA1 NSD1 ORC1 NECTIN4 WASHC5 CCDC22 BMP4 PNPLA6 MAD2L2 WNT5A MED12 FANCC PITX1 EPS15L1 BTRC EOGT ARL6IP6 VPS13B PLEC C8orf37 NPHP1 SUZ12 TCTN3 CHSY1 EFNB1 FERMT1 ARL6 KCTD1 BLM LEMD3 RAB23 BBIP1 HDAC4 FAT4 IFT172 DLX6 RB1 PALB2 EED DLX5 TTC8 HP_ABSENT_PHALANGEAL_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PHALANGEAL_CREASE IHH TNNI2 NOG MYH3 RBBP8 COL1A2 TPM2 LMX1B TBX15 HOXD13 PIEZO2 MASP1 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 HOXA13 FGFR2 COL2A1 PHF6 FGFR1 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 PTCHD1 ACSL4 PIGY FRMPD4 ARHGEF6 PHF6 ZNF711 PIGO CLCN4 DLG3 ALG13 CXorf56 AGTR2 TSPAN7 PIGL SYP FTSJ1 IQSEC2 MECP2 PAK3 USP9X USP27X GDI1 PIGW DMD UPF3B PGAP3 SLC9A7 CNKSR2 ARX RPS6KA3 MID2 MED12 PGAP2 ZNF41 IL1RAPL1 PIGV ZNF81 RAB39B HCFC1 HP_ACRAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACRAL_ULCERATION MPV17 RETREG1 NGF NTRK1 CCT5 WNK1 KIF1A SCN9A HP_ABNORMAL_FINGER_FLEXION_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_FLEXION_CREASES IHH TNNI2 NOG MYH3 RBBP8 COL1A2 TPM2 LMX1B ATR TBX15 HOXD13 PIEZO2 MASP1 GDF5 WNT7A HP_CENTRAL_Y_SHAPED_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_Y_SHAPED_METACARPAL TMEM216 FAM149B1 KIF7 CPLANE1 TCTN3 PDE6D INTU OFD1 KIAA0753 HP_MESOAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_HAND_POLYDACTYLY FGFR2 TWIST1 GLI3 FAM149B1 CPLANE1 TFAP2B HOXD13 MKKS CHSY1 HP_DECREASED_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PALMAR_CREASES CHST14 AUTS2 PIEZO2 DSE PLOD3 HP_DEEP_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PALMAR_CREASE RBM10 VPS33A KCNH1 SPECC1L MAP2K1 ASXL1 ATP6V0A2 SLC25A24 KRAS AIP ASXL2 BRAF SHOC2 MAP2K2 KCNN3 GPR101 HNRNPK TBL1XR1 MTOR HRAS ATP6V1B2 CDK10 HP_LIMITED_WRIST_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_MOVEMENT SHOX SALL4 OPA3 PIEZO2 COLQ LAMB2 GNE MYH7 GNPTAB HP_LIMITED_WRIST_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_EXTENSION PIEZO2 COLQ LAMB2 GNE MYH7 HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY OTUD6B NLRP1 YY1 KCNH1 COL6A1 NFASC COL6A3 IFITM5 FGD1 COL5A1 FBN1 VCP SMS COL6A2 PTDSS1 COL12A1 COL1A2 PIGG BRAF P4HTM GORAB RPS6KA3 HRAS PLAA HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION CANT1 BGN SLC35D1 PIGV FLNB TRPV4 EXTL3 RMRP XYLT1 GPC4 HOXA13 TONSL PTH1R LONP1 EBP B3GALT6 DDR2 MBTPS1 IHH CHST3 KIF22 SETD2 SLC10A7 GPC3 TRIP11 MATN3 UFSP2 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER KMT2D OBSL1 GDF5 BMP2 TFAP2B PUF60 RUNX2 GATA1 BMPR1B GJA1 NIN FGD1 KDM6A ARID1B HOXA13 HOXD13 DVL1 WNT7A ROR2 SMC3 WNT5A COL2A1 RBBP8 RAC1 KIF15 IGF2 CUL7 DVL3 TBC1D24 MEIS2 MASP1 HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER GPC3 GDF5 COL2A1 BMP2 INTU RUNX2 KIF15 IRX5 BMPR1B GPC4 MEIS2 HOXD13 HP_APLASIA_HYPOPLASIA_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_FINGERS KMT2D PIGY CTBP1 LRP4 PHF6 CLCN4 WDR35 ARHGAP31 FANCL ARID1B COMP LMBR1 MAP3K7 GPC3 EDA2R CTSK BRIP1 FGFR2 TRPV4 PORCN HOXD13 DYNC2LI1 RAB39B SALL4 FGFR3 FGFRL1 IFT122 CHD7 ARHGEF6 KMT2A RUNX2 SF3B4 PTCH1 SOX11 EVC ROR2 COL2A1 ARX IL1RAPL1 SLC25A22 SETBP1 BMPR1B TFAP2A KDM5C KCNH1 SEMA3E MGP PIGQ CHRND RMRP DOCK6 ESCO2 SLX4 NEK1 GPC4 BCOR DVL1 MEGF8 RAD21 MCTP2 NFIX DHODH PIGN DLL4 RPS6KA3 MID2 FANCA KDM1A MAPK1 MASP1 FANCI FANCB NOG RBPJ EVC2 XRCC2 TSPAN7 WNT7A STAMBP EDA UBE2T ACTL6B WNT5A SHH SMC1A LETM1 GDF5 PIGV MIR17HG FGFR1 ATP6V1B2 FANCM ERCC4 DMXL2 FANCE CHRNG GJA1 ACAN NSD2 SIN3A CUL7 GPX4 MTOR PIGP CLCN7 RPL5 BMP2 MAFB ACVR1 FLNA NOTCH1 BCR BRCA2 IQSEC2 NELFA CRIPT GGCX DOLK CPLX1 NSUN2 RAC1 GNAO1 RAD51C ZNF41 BRCA1 TBC1D24 DLX5 SOX4 ZNF711 ADAMTS10 TRPS1 FZD2 MAD2L2 ARSL FGD1 SLC25A24 KDM6A WDR19 SYP ARID1A GDI1 KCNA1 SMARCE1 SLC9A7 CDKL5 PTCH2 RECQL4 RFWD3 PIGS RPL10 IHH TFAP2B INTU ARID2 CCDC22 NEUROD2 ZMPSTE24 BMP4 RB1 GNAS SON MED12 HDAC8 PALB2 PGAP2 MEIS2 ASAH1 HOXA13 SMARCC2 STXBP1 EIF2AK3 FTSJ1 SMARCD1 SLC26A2 HESX1 UPF3B WIPI2 TBX5 NIPBL COG4 HCFC1 CHST11 PUF60 LMNA GMNN IFT52 BHLHA9 CXorf56 TCTN3 FRAS1 FANCF TBX3 PTHLH SCN2A RIPK4 ABCA12 FIG4 SMC3 CASK FANCC NXN FANCG IFT57 SMARCB1 ALOXE3 PSMD12 FANCD2 CNKSR2 AIFM1 APC ABCC9 COL10A1 CHN1 SMARCA4 NIN TRIM8 MECP2 PIGO SMOC1 RBBP8 FGF10 REV3L DVL3 DPF2 RAD51 PTCHD1 ACSL4 NOTCH2 JAG1 WNT10B PCNT GATA1 PLXND1 LIG4 EIF4A3 USP27X KIF15 DHCR7 PDE4D CHST3 IRX5 CRKL ZBTB20 ZBTB16 LTBP2 IFT43 ALG13 AGTR2 PIGL GLI1 PAK3 RSPO2 KCNJ8 FBN1 TBL1XR1 PCYT1A POC1A OFD1 SETD5 OBSL1 CHRNA1 FRMPD4 PNKP DLG3 EOGT TRIO SIK1 PIGW DMD IGF2 CANT1 VAC14 CWC27 SMAD4 USP9X RPL11 PGAP3 RPS19 SCN1B FLNB RPL26 SUFU TP63 ZNF81 LMNB2 ALOX12B HP_SMALL_PLACENTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PLACENTA ZMPSTE24 IGF1 PHGDH MUSK LMNA HP_REDUCED_PANCREATIC_BETA_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_PANCREATIC_BETA_CELLS ABCC8 GCK INS EIF2AK3 KCNJ11 PDX1 STAT3 HP_BETA_CELL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BETA_CELL_DYSFUNCTION KCNJ11 PDX1 ABCC8 GCK INS PAX4 HP_HYPOMINERALIZATION_OF_ENAMEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMINERALIZATION_OF_ENAMEL ODAPH RELT DLX3 WDR72 PHEX ENAM HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH SLC13A5 ROGDI RELT FAM20A ENAM ITGB6 HP_ADVANCED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_ERUPTION_OF_TEETH NSD1 SPECC1L CILK1 CEP120 DHCR7 EHMT1 BCL11B MKS1 EVC2 INTU LMNA KRT17 ZMPSTE24 JUP NEK1 GLI3 PTH1R INSR NFIX KDM6A DSP EVC C2CD3 FAM20C KDF1 FGFR2 ADNP RPS6KA3 POLR3A APC2 SETD2 FLNA AMER1 HP_ABNORMALITY_OF_DENTAL_ERUPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_ERUPTION CCDC8 SOX4 DHCR7 PDGFRB ELMO2 CLCN4 KRT17 APC ABCA5 ARID1B FTSJ1 TCF4 SUOX AMMECR1 FGFR1 EDA2R POLR3A RPS6KA3 CTSK UPF3B INSR FGFR2 TWIST2 PTH1R PORCN AMER1 NIPBL DYNC2LI1 RAI1 GLI3 RAB39B HCFC1 STAT3 NSD1 GJA1 ARHGEF6 CHST3 RUNX2 FLNA CXorf56 RHOA DSP ERCC8 SEC23A EVC SEMA3E TNFSF11 ADNP LONP1 CHD7 SNX14 FAM111A ARX NPHS1 SPECC1L CYP27B1 IL1RAPL1 SMC3 ATRX SETBP1 SFRP4 GNAS MMP2 FGFR3 KCNH1 ROR2 TP63 SMCHD1 FGD1 CEP120 EDNRA MYSM1 GJB2 NEK1 IKBKG MAP3K7 NFIX POLR3B TRIP11 BCOR DVL1 FAM20C SMARCB1 LMNA RAD21 KCNJ2 IGF1 APC2 CNKSR2 MID2 SLC39A13 TCIRG1 IQSEC2 OBSL1 RAB23 IL11RA NECTIN1 BCL11B NAA10 EVC2 GJB6 SNX10 CCBE1 FAM20A TSPAN7 CLCN7 C2CD3 MECP2 OCRL EDA WNT5A UBR1 KCTD1 FGF10 SMC1A DVL3 RIC1 DMP1 DLG1 ARHGAP29 PTCHD1 ACSL4 ACP5 TRIO CDH11 ERCC6 MSX1 LIG4 HOXD13 ZMPSTE24 USP27X DEAF1 PDE4D ANTXR1 PTCH1 EHMT1 SLC29A3 VDR JUP ALG13 GHR KAT6B ATP6V0A2 ENPP1 FGF3 AGTR2 ADAMTS3 GLI1 PAK3 KDF1 THRA NSUN2 IDS SEC24D IFIH1 PIK3R1 TBC1D24 ADAMTSL1 ZNF41 FLII SETD5 ZEB2 FRMPD4 ZNF711 MKS1 CUL7 DLG3 TRPS1 STX16 KDM6A SH3PXD2B SYP SP7 FLNB GDI1 DMD SLC9A7 BMP4 PRKAR1A CDH1 PTHLH KMT2A CILK1 SLC13A5 TFAP2B INTU GDF5 TNFRSF11A CYP2R1 DLX4 USP9X SETD2 TGFB1 RECQL4 MED12 HDAC8 FAT4 IRF6 ZNF81 P4HB HP_HYPOPLASIA_OF_DENTAL_ENAMEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_DENTAL_ENAMEL GNAS ITGB4 FGFR3 PLEC TARS1 MPLKIP GALNT3 PCNT AMBN GJA1 STX16 LAMA3 NF1 COL17A1 DDX59 KRT14 FAM20C OCRL EP300 FLNB OFD1 LAMC2 KCNJ2 ERCC4 LAMB3 ROGDI ITGA6 AMELX ATR TTC7A PORCN GTF2H5 GRHL2 AIRE ACP4 ERCC3 RUNX2 VDR CLDN1 RHOA NUP133 CYP2R1 ALDH3A2 FGFR2 LONP1 COL7A1 CREBBP FGF10 IFT122 COG6 MMP1 ERCC2 ODAPH DNAJC21 PEX1 CYP27B1 GTF2E2 ITGB6 RNF113A NECTIN4 HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION GP1BB F8 F2 GP9 F13A1 LMAN1 F11 GP1BA F10 MCFD2 F5 F13B HP_SINGLE_MEDIAN_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_MEDIAN_MAXILLARY_INCISOR PTCH1 EVC2 SUFU SIX3 EVC GAS1 BCOR FGF8 NODAL SHH DLL1 GLI2 FOXH1 ANKRD11 DISP1 CDON TDGF1 TGIF1 FGFR1 ZIC2 HP_PREMATURE_LOSS_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH VDR TNFSF11 KDF1 EDARADD CSTB EDAR SNX10 FIG4 CTSC CLCN7 WNT10A PRKD1 ALPL TRAF6 GJA1 FERMT1 VAC14 TCIRG1 C1R COL3A1 C1S HP_SUPERNUMERARY_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_MAXILLARY_INCISOR MSX1 NECTIN1 TP63 NHS IRF6 HP_PERSISTENCE_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_PRIMARY_TEETH SOX4 FLNA RAB23 TNFSF11 TFAP2B KCNJ2 BCOR EHMT1 FAM111A STAT3 CTSK PTH1R RHOA ATRX HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS DLX4 WNT10A NEK1 CDH1 MSX1 DLG1 NECTIN1 IRF6 TP63 BMP4 ARHGAP29 HP_AGENESIS_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_PERMANENT_TEETH MSX1 DVL3 RAB23 OFD1 WDR35 RIPK4 LRP6 UBR1 RECQL4 WNT10A C1R PLEKHM1 SMCHD1 KCTD1 C1S HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH TCF4 SMCHD1 PTH1R FLNB MAP3K7 HP_IRREGULAR_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_FEMORAL_EPIPHYSIS CDC6 RNU4ATAC COL11A1 COL9A1 UFSP2 RPL13 ADAMTSL2 COL2A1 HP_CRUMPLED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRUMPLED_LONG_BONES CRTAP COL1A2 LRP5 COL1A1 SEC24D P4HB HP_LIMITED_ELBOW_FLEXION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_FLEXION FZD2 KCNK9 CHST3 GPC6 SLC26A2 LMX1B MYOT STXBP1 PTH1R HP_KNEE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_FLEXION_CONTRACTURE DPM1 PIGY LIFR GMPPB ERLIN1 MYL2 NALCN GLI3 SDHAF1 RTTN COL6A1 ESCO2 COL6A3 ACTA1 FKBP10 FBN2 SRD5A3 SDHA ALG2 SIK3 DPAGT1 ATP6V1E1 COL6A2 C19orf12 PIK3R2 MYH3 CPT2 UNC80 GNPTAB COL12A1 TPM2 ZBTB20 RNU4ATAC PTH1R TRPV4 BICD2 FLNA GJB2 SLC18A3 PIEZO2 KY ERCC6 PLOD2 KAT6B TPM3 ERLIN2 LGI4 RPL10 HACD1 MYO9A GFPT1 SCARF2 CNTNAP1 ITGA7 ANKLE2 SELENON TELO2 PTDSS1 SLC39A8 MAP3K20 DDR2 SDHB PSAT1 SDHD ALG14 NT5C2 BAG3 TRIM2 HP_SHORT_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LOWER_LIMBS MMP13 NOG SLC26A2 ALPL PPIB ARL6IP6 HP_LIMITED_KNEE_FLEXION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_KNEE_FLEXION FLNC FLNA GPC6 DYSF MYOT HP_OVERTUBULATED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERTUBULATED_LONG_BONES KCNH1 KCNN3 ZMPSTE24 ATP6V1B2 LMNA HP_INCREASED_DENSITY_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_DENSITY_OF_LONG_BONES ANO5 SETBP1 FLNA GNAS STX16 TNFSF11 SOST CA2 TGFB1 MTAP HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM COLEC11 IFITM5 COLEC10 MECOM HOXA11 MASP1 HP_BROAD_FEMORAL_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FEMORAL_NECK ACVR1 ARCN1 CANT1 UFSP2 SLC39A13 RAB33B COMP MATN3 HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY CSPP1 KIAA0586 UFSP2 CFAP410 SBDS MIR140 TRPV4 COL10A1 SRP54 DNAJC21 HP_PATELLAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_APLASIA SHOX RBM8A ORC6 ORC4 DONSON GMNN ORC1 CDC45 CDC6 ESCO2 KAT6B LMX1B CDT1 LMBR1 TBX4 BHLHA9 WNT7A STXBP1 CHRNG HP_INCREASED_LAXITY_OF_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LAXITY_OF_ANKLES PYCR2 COL6A1 COL6A3 MFN2 GLI3 COL6A2 HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS PCNT RSPRY1 RET SBDS SRP54 DNAJC21 HP_ANKLE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_FLEXION_CONTRACTURE DPM1 MMP2 C19orf12 MYL2 FLNA COL6A3 COL12A1 FIG4 HUWE1 PNPT1 ANO5 RTTN COL6A2 COL6A1 ACTA1 FKBP10 TPM3 ERLIN2 LGI4 RPL10 HACD1 KLHL9 ITGA7 TOR1AIP1 SPG11 SELENON CAPN3 MAP3K20 NEB DAG1 ESCO2 PSAT1 TPM2 SPTBN4 NT5C2 HP_LIMITED_SHOULDER_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_SHOULDER_MOVEMENT RECQL4 COMP GNE SGCA MYH7 GNPTAB HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES IRF6 BRF1 RBM10 KIF7 OFD1 ZC4H2 ASXL1 KIAA0753 FAM149B1 FIG4 GJA1 CTSC GPC4 TBX15 CPLANE1 TCTN3 GNPTAB DIS3L2 TMEM216 ARX DHCR24 EVC DHCR7 EVC2 VAC14 RERE TBC1D24 GPC3 C1R CD96 PDE6D SETBP1 C1S HP_PREMATURE_LOSS_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_TEETH TCIRG1 CDH11 VDR KDF1 EDARADD CSTB CAT EDAR ELANE FIG4 GJA1 SRP54 CTSC TERT SH3PXD2B TINF2 TP63 COL3A1 WNT10A ZMPSTE24 PIGT TNFRSF11A RSPO1 LMNA POLR3A NOTCH2 TERC C1R FERMT1 VAC14 C1S TNFSF11 SNX10 DKC1 CLCN7 RUNX2 AEBP1 SEC23A TNFRSF11B PRKD1 ALPL TRAF6 RBM28 KRT14 GFI1 HP_ABNORMALITY_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRIMARY_TEETH FGFR3 SOX4 VDR KDF1 EDARADD CSTB EDNRA STAT3 CTSK EDAR ERCC6 FIG4 CTSC WNT10A KCNJ2 BCOR DEAF1 RNF113A PTH1R FERMT1 VAC14 TCIRG1 C1R RAI1 C1S MSX1 IQSEC2 FLNA RAB23 TNFSF11 TFAP2B EHMT1 RUNX2 UBR1 SNX10 RHOA CLCN7 ERCC8 FGFR2 PRKD1 ALPL TRAF6 FGF10 GJA1 ADAMTS2 FAM111A TMCO1 B4GALT7 ATRX COL3A1 FLII HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY WNT10B SMARCAL1 CCDC47 DHCR7 MSX1 WNT10A LIMK1 EDARADD EDAR WDR35 NOP10 TSPEAR CDH3 TP63 HEPHL1 MAP3K7 EDA2R CDH1 ELN UBE3B RPS6KA3 CTSK KRAS BRCA1 TFAP2A PIGL C1R DYNC2LI1 B3GLCT WRAP53 RAI1 IFT122 EDA GJA1 SH3BP2 NHP2 RHOA MYO7A SEC23A IFT140 EVC USH2A TRAF6 NECTIN1 PEX6 ADAMTS2 POLR1D MCOLN1 PITX2 TMCO1 CHSY1 WHRN CACNA1C FGFR3 WDR4 CKAP2L GALNT3 ANTXR2 NEK1 CTCF PDZD7 MLXIPL RBBP8 BCOR RUSC2 KMT2D FAM20C FGF3 NRAS KAT6B TGFA DHODH EYA1 PIGA COL11A1 DLX3 AMELX IKBKG CTNND1 BRF1 IQSEC2 ATP6V1B2 SUMO1 NAA10 BAZ1B RTEL1 EVC2 CCBE1 LRP6 OCRL SMOC2 SMOC1 FGFR2 UBR1 FARS2 TINF2 FGF10 REV3L ADGRV1 GTF2IRD1 P4HB DLG1 ARHGAP29 PORCN CHST3 MBD5 KDF1 RFC2 CSTB PCNT ADAMTS10 PLXND1 GTF2I TWIST2 TONSL WDR19 FOXC1 IFT52 LTBP3 DPF2 SMC3 EP300 CA2 DEAF1 CLIP2 NPM1 TCIRG1 KCNMA1 PAX9 C1S NHS PLEKHM1 GRIA3 DNAJC21 HRAS TCOF1 IFT43 PCGF2 GHR ATP6V0A2 ADAMTS3 SIX1 VPS13B GLI1 COL5A1 PRKD1 CREBBP ANKRD11 POLR1C SRP54 SBDS NFKBIA TBC1D24 TERC ORC1 NECTIN4 FLII IDUA CDH11 LONP1 TERT B3GAT3 KCNK9 MED12 TRPS1 SLC25A24 MGAT2 COL1A1 ALX4 MAPRE2 PARN TBL2 IRF6 AXIN2 FBN1 DHX37 BMP4 PIK3R1 RECQL4 CDK10 COL5A2 LAMB3 CLCN7 EIF2AK3 DLX4 USB1 BCL11B CTC1 KDM6A FGFR1 SATB2 FAT4 DKC1 EFL1 COL3A1 FLNA PEX1 HP_ABNORMAL_NUMBER_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_TEETH WNT10B NKX2-1 CTBP1 CAMTA1 WNT10A LIMK1 EDAR AMMECR1 WDR35 SLC13A5 PTEN DDX59 POLR3B TP63 MAP3K7 ARL6 FGFR1 ELN CNKSR2 FOXH1 SIX3 SLC1A2 ATR C1R PORCN ATP6V1B2 DYNC2LI1 WRAP53 FGF8 FGFRL1 KCNH1 PUS7 IFT122 SCN8A SH3BP2 SYNJ1 RUNX2 WWOX TRAK1 RHOA ANOS1 EVC ROR2 HMGA2 GREM2 COL17A1 GJA1 POLR1D NECTIN1 GABRA2 FGFR3 PTCH1 EDARADD HSPA9 BCOR CKAP2L RMRP NEK1 CACNA1B CLDN1 GAS1 KMT2D C2CD3 TGFA CEP152 PITX2 CDH3 TGIF1 EXT1 SMCHD1 RAB23 FLRT3 EVC2 UBR1 KISS1R CREB3L1 DLX3 CCDC141 OFD1 FGFR2 LEMD3 DCAF17 OCRL TINF2 EEF1A2 KCNB1 HNRNPK GTF2IRD1 MSX1 LETM1 TDGF1 CACNA1A RIPK4 RFC2 LRP6 FLNB GABRG2 DCC FOXC1 LTBP3 EP300 SOX10 CLTC NSD2 DVL1 ACOX1 ANKRD11 LMNA CLIP2 NECAP1 HESX1 SZT2 PAX9 C1S NHS AARS1 UBA5 APC GHR FLNA FGF3 RBM28 AKT1 NELFA DVL3 YWHAG CPLX1 NAA10 CREBBP POLR1C DNAJC21 PARS2 NFKBIA PIK3R1 TERT C8orf37 KCNA2 TRIO TRPS1 PROKR2 FGD1 SLC25A24 TRPV3 PLK4 KDM6A PLEKHM1 VPS13B FGF17 NODAL PIK3C2A POLR3A CHSY1 CCBE1 CDH1 PTHLH PPP1R15B HUWE1 SATB2 FGF12 COL5A2 BLM DHDDS TRAIP XYLT1 GDF5 DLX4 BCL11B HCN1 DLL1 SPRY4 DSP CTC1 IRF6 RECQL4 SYNGAP1 DNM1 DHCR7 ACSL4 SCN3A NOP10 TSPEAR ACTL6B RPS6KA3 GRHL3 TFAP2A CCDC28B MSX2 PIGL PTH1R ATP6V1A SLC10A7 CDON B3GLCT FZD2 WDR11 EDA HSPG2 HS6ST1 IL17RD NTRK2 TRAF6 TBX3 ADAMTS2 SHH TRIM37 ZIC2 TRMT10A NXN CTSC IKBKG MLXIPL PPP2R3C KCNJ2 MBTPS2 SLC39A13 DISP1 CTNND1 LAMB3 LAMC2 IL11RA SUMO1 PCNT BAZ1B RTEL1 CYFIP2 FGF10 AP3B2 REV3L STXBP1 DLG1 NUS1 CENPE MAF ARHGAP29 KDF1 GRIN2D LAMA3 PLXND1 EIF4A3 GTF2I WDR19 IFT52 LRP4 KCNN3 KCNE5 TACR3 ATRIP IRX5 NPM1 KREMEN1 DPP6 GRHL2 TCOF1 RPS23 ARV1 IFT43 CENPJ KIF1C ADAMTS3 PUF60 GLI1 COL5A1 GLI2 DUSP6 POP1 TERC PROK2 NSMF CTSK BBS1 AXIN2 PPP3CA WNT5A GABRB2 COL1A1 PARN TBL2 RBBP8 DHX37 BMP4 PRKAR1A KCTD1 SEMA3A PERP ITGB4 NHP2 GABRA5 CHD7 SUFU USB1 ZMPSTE24 FAT4 DKC1 FEZF1 HP_AGENESIS_OF_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_INCISOR DLX4 BLM RIPK4 NECTIN1 GLI2 NAA10 BCOR BMP4 NEK1 CDH1 DLX3 MSX1 DLG1 IRF6 EIF4A3 B3GLCT TP63 EDA ARHGAP29 HP_BOWING_OF_THE_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_ARM TMEM67 SHOX FLNB NPR2 PCNT P3H1 WNT7A RECQL4 EXT1 SCARF2 FGFR2 FLNA RSPO2 POR COL11A1 B2M CHST3 EXT2 RNU4ATAC B3GALT6 HOXA11 GDF5 GLI3 MMP13 HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES FGFR3 TP53 CSPP1 SETBP1 UFSP2 CFAP410 CHEK2 MIR140 TRPV4 TRIP11 AIFM1 KIAA0586 RB1 SBDS COMP COL10A1 EZH2 SRP54 DNAJC21 HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA SLC35D1 BMPR1B FLNB GPC6 SMOC1 INTU LMBR1 DYNC2H1 COL11A1 INPPL1 TBX15 FLNA AFF4 WNT7A GDF5 EIF4A3 RBM8A SOX9 PTH1R BHLHA9 SF3B4 SHOX IFT122 MET ATR AMER1 ZBTB16 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 PPM1D SHOX DYNC2LI1 CCDC47 CTBP1 GLI3 FMR1 PHF6 KCNAB2 MMP13 ARHGAP31 INPPL1 AFF4 ARID1B SOX9 LMBR1 TCF4 MAP3K7 GPC3 ARL6 FLNB CTSK FGFR2 PWAR1 MET TRPV4 TP63 ATR PORCN IFT80 HOXD13 RAG2 SMC1A CHRNG FGFR3 FGFRL1 BPNT2 LTBP3 GJA1 KMT2A ORC6 SALL4 RUNX2 PPIB CDKL5 WDR35 FGFR1 SOX11 TBX15 TELO2 IFT172 COL2A1 HDAC6 DCHS1 B3GALT6 BMPR1B SMARCA2 SLC35A2 PITX1 GNAS KDM5C ROR2 FGD1 RAB33B HDAC8 RMRP KCNH1 DOCK6 FLI1 NEK1 ESCO2 GPC4 LMNA RAD21 MBD5 SLC26A2 DLL4 MMP9 TRIP11 KLHL7 NDN MASP1 HBA1 DONSON FBXO11 SKI CHUK RAB23 NOG RBPJ TNNT3 WDR19 B3GLCT OFD1 GDF5 TRAPPC2 WNT7A TRAF3IP1 LMX1B DCLRE1C MAGEL2 COMP LETM1 SNORD115-1 CTC1 TTC21B TBCE RIPK4 TBX4 SLC39A13 C12orf57 NSD2 SNRPN PDE4D GPX4 PEX5 GMNN SIL1 MYCN TWIST1 NPR2 BMP2 ACVR1 GHR FLNA NANS NOTCH1 PTH1R STXBP1 NELFA SRY DOLK CPLX1 NSUN2 TRRAP WDR34 MATN3 EZH2 DYM IDUA CDH11 DLX5 SOX4 TRPS1 SON GRIP1 SPART HINT1 RNU4ATAC ARID1A CFAP410 DYNC2H1 DDRGK1 TCTN3 PIK3C2A SMARCE1 POLR3A ALPL CDC45 CHSY1 CDC6 PTHLH PWRN1 USP7 HUWE1 COL11A1 PIGN PIGS IHH USP9X ARID2 INTU SLC35C1 HDAC4 NGLY1 IGF1R MECP2 FAT4 PRKAR1A TAPT1 PRMT7 IFT122 XYLT1 RECQL4 RAG1 ASAH1 HOXA13 CEP120 ABCC9 LIFR RSPRY1 SLC35D1 GPC6 MGP SMARCC2 RBM8A MAPK8IP3 SMARCD1 CCDC28B PIGL SLC10A7 AMER1 NIPBL COG4 TUBB3 SALL1 CHD4 PRDM16 PHYH CENPE CHST11 WASF1 IFT52 WDR60 BHLHA9 LAS1L IFT140 UBE2A EXOC6B NPAP1 ADAMTS2 GABBR2 HTT EOGT RAB3GAP2 ALG12 FIG4 SMC3 FBN1 CANT1 LIG4 RERE ASXL1 COG1 IL7R SMARCB1 ALOXE3 KCNJ2 ORC1 AIFM1 APC FN1 ADA SPECC1L CCBE1 SMARCA4 SHH SF3B4 COL3A1 ATP7A SMOC1 HERC2 ADAMTSL2 SHROOM4 DPF2 CUL4B NOTCH2 CERT1 DACT1 WNT10B EIF4A3 LRP4 HYLS1 DHCR7 CHST3 IFNGR1 ZBTB16 TMEM67 PIGV DNMT3A TBX22 KAT6B PUF60 VPS13B KCNJ8 ORC4 MKRN3 TBL1XR1 TBC1D24 CHD7 POP1 POC1A CAMK2G SIM1 SETD5 IL2RG SNORD116-1 BBS1 FBXL4 ARL6IP6 CDT1 PEX7 GABRD VAC14 BGN FKBP10 ZSWIM6 SMAD4 TBX3 AGPS PAPSS2 HBA2 WDR81 ALOX12B HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET ABCC9 PPM1D SHOX DYNC2LI1 CCDC47 CTBP1 RNU4ATAC GLI3 FMR1 PHF6 MGP SMARCC2 GPC4 KCNAB2 ARHGAP31 ARID1B GDF5 IFT80 TCF4 MAPK8IP3 MAP3K7 GPC3 ARL6 SMARCD1 FLNB CTSK FGFR2 CCDC28B PWAR1 TRPV4 PIGL TP63 PORCN NIPBL HOXD13 COG4 RAG2 B3GLCT SMC1A TUBB3 SALL1 PRDM16 FGFR3 FGFRL1 BPNT2 PHYH LTBP3 GJA1 NOG CENPE KMT2A CHST11 WASF1 SALL4 IFT52 CDKL5 WDR60 WDR35 BHLHA9 FGFR1 FLNA SOX11 LAS1L HOXA13 UBE2A TELO2 EXOC6B BMP2 IFT140 IFT172 COL2A1 BMPR1B PTHLH NPAP1 HDAC6 ADAMTS2 DCHS1 GABBR2 HTT EOGT RSPRY1 RIPK4 CHSY1 LMBR1 RAB3GAP2 FIG4 SMC3 B3GALT6 FBN1 SMARCA2 GNAS KDM5C ROR2 FGD1 RAB33B LIG4 TBCE HDAC8 RERE RMRP KCNH1 DOCK6 PRKAR1A IHH ASXL1 COG1 IL7R FLI1 NEK1 SMARCB1 INPPL1 LMNA LETM1 ALOXE3 RAD21 KCNJ2 MBD5 SLC26A2 DLL4 TRIP11 APC KLHL7 NDN MASP1 PRMT7 HBA1 ADA FBXO11 SKI SPECC1L RAB23 RBPJ TNNT3 CCBE1 SMARCA4 WDR19 OFD1 SOX9 WNT7A COL3A1 SMOC1 HERC2 ADAMTSL2 DCLRE1C MAGEL2 COMP SHROOM4 SNORD115-1 DPF2 TTC21B CUL4B NOTCH2 CERT1 DYNC2H1 DACT1 WNT10B ACVR1 LRP4 C12orf57 NSD2 DHCR7 PDE4D SNRPN GPX4 SIL1 MYCN TWIST1 SF3B4 NPR2 PIGV DNMT3A TBX22 GHR NOTCH1 PUF60 VPS13B NELFA TRPS1 SRY DOLK CPLX1 NSUN2 KCNJ8 MKRN3 TRRAP WDR34 TBL1XR1 TBC1D24 CHD7 EZH2 POC1A DYM CAMK2G SIM1 SETD5 DLX5 SOX4 IL2RG SNORD116-1 BBS1 SON GRIP1 COL11A1 FBXL4 SPART HINT1 ARID1A SMARCE1 PEX7 CANT1 GABRD VAC14 PWRN1 USP7 HUWE1 PIGN PTH1R PIGS BGN USP9X ARID2 SLC35C1 HDAC4 NGLY1 IGF1R MECP2 FAT4 SMAD4 IFT122 RECQL4 TBX3 RAG1 ASAH1 HBA2 CEP120 WDR81 ALOX12B HP_APLASIA_HYPOPLASIA_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA CCDC8 SHOX FGFR3 FANCE SEMA3E JAG1 FANCG FANCM ERCC4 IHH LMBR1 ESCO2 MAD2L2 SLX4 LRP4 CUL7 FANCC FANCL WNT7A GDF5 RECQL4 RBM8A RFWD3 DHODH FANCI FLNB FANCD2 BRIP1 PDE4D B2M CHST3 EXT2 FANCA APC EXOC6B TBX5 ZBTB16 PIGT SALL4 OBSL1 CHD7 BHLHA9 XRCC2 COL2A1 DYNC2H1 BMPR1B EXT1 RAD51C SCARF2 BRCA2 SF3B4 PRKAR1A UBE2T FGFR2 FANCF TBX3 FGF10 PALB2 RPL26 BRCA1 FANCB RAD51 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 PPM1D SHOX KMT2D PIGY CTBP1 LRP4 GLI3 FMR1 PHF6 CLCN4 KRAS WDR35 ARHGAP31 TRAPPC2 FANCL KIFBP AFF4 ARID1B COMP MMP13 LMBR1 TCF4 MAP3K7 LTBP3 GPC3 EDA2R PEX7 FLNB CTSK PWAR1 BRIP1 FGFR2 TRPV4 TP63 ATR PORCN IFT80 HOXD13 DYNC2LI1 SMC1A RAB39B SALL4 FGFR3 FGFRL1 BPNT2 IFT122 GJA1 CHD7 ARHGEF6 KMT2A GSC CHST3 SLC6A17 RUNX2 CDKL5 SF3B4 MYH3 PTCH1 SOX11 EXT1 BPTF EVC TELO2 ROR2 COL2A1 FGFR1 HDAC6 DCHS1 ARX PCYT1A SPECC1L IL1RAPL1 SNIP1 B3GALT6 SLC25A22 SETBP1 BMPR1B SMARCA2 GNAS TFAP2A KDM5C KCNH1 SEMA3E MGP PIGQ FGD1 CHRND RAB33B HDAC8 RMRP DOCK6 ESCO2 PHYH MYSM1 SLX4 NEK1 GPC4 WRN BCOR DVL1 FANCB INPPL1 MEGF8 RAD21 MCTP2 NFIX DHODH PIGN MBD5 DLL4 RPS6KA3 MID2 FANCA TRIP11 KDM1A NDN MAPK1 MASP1 FANCI DONSON FBXO11 CHUK NOG COG4 RBPJ EVC2 XRCC2 FBXL3 TSPAN7 GNPTAB RAI1 WNT7A STAMBP EDA UBE2T ACTL6B WNT5A MAGEL2 SHH LETM1 GDF5 SNORD115-1 PIGV MIR17HG RBM10 TBCE ATP6V1B2 SMARCD1 FANCM ERCC4 DMXL2 PSMD12 INPP5K SIL1 FANCE CHRNG ACAN NSD2 EXTL3 GNAS-AS1 SIN3A SNRPN CUL7 PDE4D B2M GPX4 MTOR PIGP CLCN7 SMAD4 NPR2 RPL5 BMP2 MAFB ACVR1 PCGF2 FLNA NANS NOTCH1 BCR BRCA2 IQSEC2 NELFA DVL3 CRIPT SRY GGCX DOLK CPLX1 NSUN2 RAC1 GNAO1 DDR2 RAD51C LMNA WDR34 ZNF41 BRCA1 ATP7A DYM DPM1 CDH11 TBC1D24 DLX5 SOX4 ZNF711 ADAMTS10 TRPS1 FZD2 TNNT3 MAD2L2 SON ARSL SLC25A24 KDM6A WDR19 SYP SLC26A2 RNU4ATAC ARID1A GDI1 DYNC2H1 KCNA1 SMARCE1 POLR3A SLC9A7 CHSY1 PIK3R1 PTCH2 RECQL4 PTHLH PWRN1 USP7 HUWE1 RFWD3 PIGT PIGS RPL10 IHH TFAP2B USP9X INTU ARID2 HDAC4 TNNI2 NGLY1 XYLT1 CCDC22 NEUROD2 ZMPSTE24 IGF1R BMP4 FAT4 NALCN PRKAR1A RB1 DNMT3A MED12 PALB2 PGAP2 MEIS2 PDE3A ASAH1 HOXA13 CCDC8 RSPRY1 DHCR7 GPC6 SMARCC2 STXBP1 EIF2AK3 RBM8A FTSJ1 WNT10B MAPK8IP3 HESX1 UPF3B FGF9 HHAT SLCO2A1 PIGL TPM2 WIPI2 TBX5 NIPBL ZIC3 B3GLCT TUBB3 HCFC1 CENPE CHST11 PUF60 GMNN IFT52 BHLHA9 CANT1 COL11A2 CXorf56 SCARF2 TWIST2 LAS1L TCTN3 ALDH18A1 FRAS1 FANCF EXOC6B LONP1 YY1AP1 LBR TBX3 NPAP1 GABBR2 SCN2A HTT RIPK4 ABCA12 RAB3GAP2 ALG12 FIG4 SMC3 MACROH2A1 FBN1 SEM1 CASK FANCC NXN FANCG SEMA5A COG1 P3H1 ANTXR2 IFT57 WDR60 SMARCB1 ALOXE3 PPP2R3C KCNJ2 FANCD2 CNKSR2 AIFM1 EXT2 SLC39A13 APC ABCC9 GNPAT IKBKG COL10A1 PRMT7 PTDSS1 OBSL1 CHN1 CCBE1 SMARCA4 NIN PTH1R TRIM8 MECP2 COL3A1 PIGO SMOC1 HERC2 RBBP8 ADAMTSL2 FGF10 REV3L SHROOM4 PUM1 DPF2 RAD51 ADNP PTCHD1 ACSL4 CUL4B NOTCH2 JAG1 MMP9 PCNT GATA1 PLXND1 LIG4 EIF4A3 KIF22 USP27X HYLS1 KIF15 UNC80 ERGIC1 IRX5 CRKL ZBTB20 ZBTB16 IFT81 LTBP2 IFT43 ALG13 AGTR2 VPS13B GLI1 PAK3 RSPO2 CTNND2 KCNJ8 MKRN3 PITX1 CRLF1 TBL1XR1 KAT6B STX16 CD96 NHS ORC1 POC1A DPH1 OFD1 CAMK2G SIM1 SETD5 COL9A3 CHRNA1 FRMPD4 PNKP SNORD116-1 DLG3 COL11A1 EPS15L1 MAPRE2 BTRC EOGT TRIO SIK1 PIGW DMD IGF2 FERMT1 VAC14 CDK10 CCNQ BGN FKBP10 DYNC1H1 CWC27 HPGD DLX6 RPL11 SNRPB PGAP3 COL9A2 RPS19 TGFB1 SCN1B RPL26 AGPS SUFU ZNF81 LMNB2 WDR81 ALOX12B HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA PITX1 SHOX SOX4 DONSON SMARCC2 ESCO2 ARID1B TBX4 RECQL4 RBM8A LMX1B SMARCB1 CDT1 ARID1A SMARCD1 SMARCE1 ORC1 CDC45 GDF5 CDC6 GMNN CHRNG FKBP10 ORC6 ARID2 SMARCA4 KAT6B LMBR1 SOX11 ZSWIM6 BHLHA9 WNT7A STXBP1 ORC4 PRMT7 DPF2 HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY CCN6 RSPRY1 SMARCAL1 RNU4ATAC GNPTG INPP5K TRPS1 SIL1 PCNT WNT5A UFSP2 TBX4 EIF2AK3 TONSL SLC26A2 KIF22 SLC39A13 SRP54 EP300 COL9A1 DVL1 COL11A1 RET CHST3 AIFM1 KIAA0586 COL1A2 B3GALT6 COL10A1 EXT1 DNAJC21 CSPP1 FZD2 SLC2A10 EXTL3 COL2A1 COL11A2 COL1A1 ACAN COMP TRAPPC2 DVL3 IFT140 TRPV4 ATP7A HSPG2 CREBBP ADAMTSL2 PLOD3 CDC6 IHH ADAMTS2 SBDS RPL13 MATN3 DYM HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS RBM10 FANCE MMP9 GLI3 DHCR7 FLNB FANCM ERCC4 FANCD2 LRP4 PLXND1 FANCL AFF4 WNT7A RECQL4 EIF4A3 RBM8A RFWD3 MMP13 SALL4 GDF5 BRIP1 PDE4D TPM2 SHOX ERGIC1 ATR TBX5 ZBTB16 ZIC3 IFT81 SF3B4 CHD7 NPR2 MAFB TRIP11 MYH3 LMBR1 RAD51C BRCA2 FANCF PITX1 BRCA1 ALG12 MACROH2A1 FANCC FGFR3 SEMA3E HOXD13 FANCG NIPBL DONSON ESCO2 TNNT3 MAD2L2 SLX4 FGFR1 TRIO FANCB DHODH FANCI FANCA APC CCNQ FKBP10 CHN1 TNNI2 XRCC2 NALCN PRKAR1A UBE2T FGFR2 FGF10 SHH REV3L RPS19 TGFB1 IHH PALB2 RPL26 TBX3 RAD51 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES GNPTAB RBM8A TRPV4 SALL4 RSPRY1 EXOC6B NANS LMBR1 XRCC2 EIF2AK3 RECQL4 COMP KIF22 DYM WNT7A ALDH18A1 HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES RBM10 SHOX CCDC8 FANCE JAG1 MMP9 GLI3 DHCR7 FLNB FANCM ERCC4 FANCD2 LRP4 PLXND1 FANCL AFF4 WNT7A GDF5 RECQL4 EIF4A3 RBM8A RFWD3 MMP13 SALL4 BRIP1 PDE4D TPM2 ERGIC1 B2M CHST3 ATR EXOC6B TBX5 ZBTB16 ZIC3 IFT81 SF3B4 CHD7 NPR2 MAFB TRIP11 COL2A1 MYH3 LMBR1 EXT1 RAD51C SCARF2 BRCA2 FANCF TBX3 PITX1 BRCA1 ALG12 MACROH2A1 BMPR1B FANCC FGFR3 SEMA3E HOXD13 FANCG NIPBL DONSON IHH ESCO2 TNNT3 MAD2L2 SLX4 FGFR1 CUL7 TRIO FANCB DHODH FANCI EXT2 FANCA APC PIGT CCNQ OBSL1 FKBP10 CHN1 BHLHA9 TNNI2 XRCC2 DYNC2H1 NALCN PRKAR1A UBE2T FGFR2 FGF10 SHH REV3L RPS19 TGFB1 PALB2 RPL26 RAD51 HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY CCN6 RSPRY1 SMARCAL1 CTBP1 RNU4ATAC INPP5K SIL1 MGP PCNT ERCC6 NF2 IFT172 TBX4 EIF2AK3 COMP TONSL KIF22 SLC39A13 SRP54 FLNB EP300 COL9A1 NSD2 RPS6KA3 GDF5 DVL1 SRCAP KIF15 CHST3 ATR GPX4 COL1A2 B3GALT6 COG4 RMRP SALL1 FGFR3 FGFRL1 FZD2 NPR2 RUNX2 IFT52 COL2A1 COL11A2 ACAN ERCC8 TRPS1 DVL3 IFT140 CPLX1 CREBBP NKX3-2 IFIH1 MATN3 DYM GNPTG KCNH1 WNT5A NEK1 UFSP2 SLC26A2 PRKAR1A COL11A1 RET AIFM1 KIAA0586 GNPAT COL10A1 EXT1 DNAJC21 CSPP1 BGN IHH SLC2A10 RAB23 EXTL3 COL1A1 BMPR1B ATRX TRAPPC2 TRPV4 ATP7A FLNA HSPG2 ADAMTSL2 EVC PLOD3 EVC2 CDC6 ADAMTS2 LETM1 SBDS TRIP11 RPL13 HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS SALL4 NOG GPC6 GSC FZD2 LMBR1 MYSM1 RECQL4 RBM8A FLNB ATP7A FLNA LONP1 FANCB SNRPB POLR3A IFT122 GDF5 IHH TBX5 TBX3 RNU4ATAC ALG12 AGPS GNPAT ZIC3 HP_CHRONIC_PULMONARY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_PULMONARY_OBSTRUCTION CYBB CYBC1 JMJD1C CYBA NCF1 NFKB1 HMOX1 GLA SEC24C WIPF1 DNAAF4 MMP1 HIRA NCF2 RREB1 HLA-DPB1 HLA-DPA1 PTPN22 CTLA4 GP1BB ARVCF TBX1 SERPINA1 UFD1 COMT PRTN3 NCF4 WAS MYH7 HP_LARYNGEAL_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STRIDOR BRF1 UBE3B LAMB3 BTD LAMA3 ASAH1 TAF1 LAMC2 HP_INTERSTITIAL_PNEUMONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_PNEUMONITIS TERC PLCG2 SFTPB RAG1 SFTPC TERT STAT3 FOXP3 TINF2 HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT SMARCB1 SMPD1 BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO SLC34A2 SMARCE1 NF2 TRAF7 HP_CHRONIC_LUNG_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LUNG_DISEASE CTCF FOXE1 CSPP1 TGFB1 BLM HABP2 CFTR MINPP1 LAT AFF4 ITCH RIPK1 KIAA0586 FCGR2A LRBA SFTPB LRRC56 PEPD SERPINH1 HP_INTERSTITIAL_PULMONARY_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_PULMONARY_ABNORMALITY SFTPA2 NKX2-1 TERT COPA IRF5 FSHR CAV1 STAT3 CASP10 CTLA4 THOC2 UNC119 TERC SFTPC RASGRP1 RAG1 HLA-DRB1 RNF168 SPIDR CLCA4 POLR3H FAM13A STN1 DSP ERF SCARB2 ITGA3 NHP2 MUC5B NR5A1 CCR6 RTEL1 DKC1 DCTN4 BTNL2 PTPN22 CFTR PRTN3 GBA HPS1 STX1A BMP15 FARSB HPS4 ALMS1 BMPR2 STING1 TINF2 PARN CCN2 FOXP3 CSF2RB FASLG SP110 NSMCE3 SMPD1 ABCA3 KIAA0319L SFTPB AP3D1 FAS MARS1 BNC1 SFTPA1 IL1RN NOP10 PLCG2 PSMC3IP CSF2RA PLEC HLA-DPB1 MRPS22 HLA-DPA1 RCBTB1 PRKCD ATP11A TGFB1 DPP9 NUP107 FAM111B AP3B1 ASAH1 HP_RECURRENT_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PNEUMONIA NKX2-1 RNU4ATAC CR2 CD3D STAT3 NCF2 WDR19 CD247 TNFRSF13C GAS8 NOTCH3 CFAP410 CD19 CD3E ALMS1 CXCR4 EXTL3 NCF1 TK2 MASP2 TBCD FCGR2A NFKB2 CD79B CYBB MED25 MTHFD1 IGLL1 EGFR RNF168 TGFB1 PLOD1 NBN COL11A2 TNFRSF11A CCDC114 ADA KCNJ6 IGHM BTK GNPTAB PEPD BLNK SMARCD2 JAK3 LEP CFTR RAC1 KPTN CYBA PGM3 DDR2 ORC6 USB1 P4HTM ICOS POLA1 FMO3 TNFRSF13B SETBP1 HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE HLA-DPB1 WIPF1 HLA-DPA1 PTPN22 CTLA4 PRTN3 WAS HP_PULMONARY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_OBSTRUCTION CYBB CYBC1 VPS33A DNAJB13 RSPH1 CYBA SPEF2 CCDC40 SPAG1 FOXJ1 MGP NFKB1 HMOX1 MCIDAS ZMYND10 WIPF1 DNAAF4 GAS2L2 SCNN1A NCF2 DNAH1 CCDC151 CCDC39 ARMC4 DNAL1 TTC25 DNAAF2 CTLA4 APC DNASE1L3 DNAI2 ARVCF SCNN1G TBX1 DRC1 COMT NEK10 CFAP221 GLA RSPH3 NCF4 LRRC6 WAS MYH7 DNAAF1 DNAAF5 CCNO RPGR RSPH9 STK36 JMJD1C CFTR NCF1 DNAH9 HYDIN DNAAF6 SEC24C OFD1 RSPH4A MMP1 DNAH5 CCDC114 HIRA CCDC103 LRRC56 RREB1 NME8 GAS8 HLA-DPB1 TTC12 HLA-DPA1 PTPN22 GP1BB CCDC65 CFAP298 SCNN1B DNAAF3 SERPINA1 UFD1 CFAP300 PRTN3 DNAH11 DNAI1 HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS ERCC2 TGFB1 FCGR2A LAMTOR2 ERCC3 TARS1 CFTR MPLKIP GTF2E2 GTF2H5 RNF113A HP_CARDIORESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIORESPIRATORY_ARREST SLC2A10 KIT SLC25A20 HBB LAMP2 TSPYL1 GPX4 HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS DGCR8 ESS2 DGCR6 TBX1 DGCR2 HP_ACUTE_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_HEPATIC_FAILURE PORCN NBAS XIAP ACAD9 HADH F5 SCYL1 VPS13A FAH TRMU GFM1 MEFV EIF2AK3 CACNA1S RYR1 CYC1 SH2D1A ATP7B IKZF1 LARS1 HLA-B TCF4 MPV17 ITCH GPR35 JAK2 MST1 HP_POLYCYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_LIVER_DISEASE PRKCSH PKD2 GANAB SEC63 BICC1 LRP5 PKD1 HP_LIPID_ACCUMULATION_IN_HEPATOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPID_ACCUMULATION_IN_HEPATOCYTES PLIN1 CAV1 BCS1L SCO1 HNRNPA1 BSCL2 ETFB CPT2 PGM1 LDLR KCNAB2 COX6B1 TMEM199 CPT1A SLC25A13 SLC22A5 NGLY1 POLG COX14 TACO1 MCCC1 LYRM4 DGUOK PPARG XRCC4 ALMS1 ATP7B PCK2 LMNA HADHA COG6 NDUFAF1 APOE PET100 LIPE LDLRAP1 HNF4A TYMP PRDM16 MRPL44 MPV17 COA3 HADH AKT2 APOB TFAM RRM2B PCK1 TKFC DNAJC19 HNF1B COX10 ABCG5 ACADM ACOX1 CYP19A1 VPS33A FARSB ETFDH CARS2 RERE CIDEC HMGCL PHKG2 DDOST PTRH2 COA8 COX15 TARS2 ALDOB POLD1 LMNB2 GPD1 COX8A SLC40A1 CYP7A1 ABCG8 ACADL CEP19 VCP ACADVL POLR3A LARS1 MARS1 GABRD ADK AGPAT2 PNPLA2 TRAPPC11 LRPPRC PHKA2 SKI COX20 ACAD9 CBS ABHD5 NSMCE2 ATP6AP1 PCSK9 CAVIN1 FOS TRMU IARS1 HFE ETFA SAR1B ZMPSTE24 EARS2 MT-TN FBP1 HADHB HSD17B4 MRPS7 PMM2 CLPB RMND1 HNRNPA2B1 LIPA HP_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_HEPATITIS CASP8 RFXANK RFXAP IGF2R BTK CTNNB1 PDGFRL AXIN1 APC MET TP53 PIK3CA RFX5 CIITA HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS TACO1 LRPPRC COX8A COX20 SAR1B COA3 MT-TN SCO1 COX10 COX6B1 COA8 PET100 COX14 HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS CASP8 IGF2R CTNNB1 PDGFRL AXIN1 APC MET TP53 PIK3CA HP_PROLONGED_NEONATAL_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_NEONATAL_JAUNDICE EPB41 JAG1 RNASEH2A G6PD KMT2E CDAN1 NPC2 UGT1A1 GPC1 PKLR PRPS1 ATP6AP1 POU1F1 SPTB PEX3 SMPD1 CASK ADAR PEPD RNASEH2B ATP7A IFIH1 CTCF TREX1 ADAMTS13 ACADL SAMHD1 TBX19 GYPC RNASEH2C TRHR PARS2 PEX1 GALK1 AMACR MPV17 RNU4ATAC NPC1 CCDC115 SPTA1 HP_PORTAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_FIBROSIS ABCB4 ADK PYGL CEP83 WDR35 HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE EFNB1 SRCAP ZMPSTE24 LMNA WNT7A HP_DIAPHRAGMATIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_PARALYSIS HMBS MEGF10 TPI1 MORC2 GAA BAG3 IGHMBP2 HP_WIDE_INTERMAMILLARY_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_INTERMAMILLARY_DISTANCE SMS IGF1R CERT1 DHCR7 TUBB CDH11 FGFR1 KIFBP A2ML1 TP63 KISS1 RRAS2 TAC3 NUP188 PROKR2 RASA2 CHST3 AMER1 B3GLCT CBL SPRY4 TACR3 FGF17 COX7B WASF1 IBA57 ERCC6 KANSL1 SMARCA2 PROK2 KRAS FRAS1 NECTIN1 UBE2A SRY ADNP GRIP1 ARCN1 TBL1XR1 DUSP6 TMCO1 SOS1 ABCD4 OFD1 ALG9 TFAP2A LZTR1 PACS1 PTPN11 RAB18 ASXL1 COG1 CHD7 MRAS GATA4 MAPRE2 GNRHR FREM2 WDR11 ERMARD RAF1 MEGF8 ANOS1 TRAF7 PIGN CPT2 KIAA0586 NRAS KLHL7 RIPK4 CSPP1 RIT1 CILK1 ARHGEF2 INTU HDAC4 GNRH1 UBA1 RRAS GNPTAB FGF8 NSMF MAB21L1 HNRNPK HS6ST1 SOS2 KISS1R HP_ABSENT_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_STERNAL_OSSIFICATION ORC6 FIG4 VAC14 ORC1 SOX9 HP_THORACIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_DYSPLASIA WDR19 IFT172 WDR60 WDR34 WDR35 NEK1 HP_THIN_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_CLAVICLES PCNT ZMPSTE24 TBCE COL11A1 LMNA HP_RIB_SEGMENTATION_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_SEGMENTATION_ABNORMALITIES LETM1 RIPPLY2 FGFRL1 HES7 LFNG CTBP1 NSD2 CPLX1 MESP2 DLL3 NELFA HP_APLASTIC_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_CLAVICLE SALL4 ATP7A PTDSS1 ZMPSTE24 ORC6 ORC4 RUNX2 KIAA0586 ORC1 CDC45 LMNA CDC6 PIGL RNU4ATAC FIG4 CDT1 TRPV4 PTH1R GMNN HP_REDUCED_SYSTOLIC_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SYSTOLIC_FUNCTION ABCC9 SCN5A LIMS2 TPM2 DES PLN CSRP3 TKFC MYPN SGCD TPM3 HP_VENTRICULAR_EXTRASYSTOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_EXTRASYSTOLES TRDN NAA10 RYR1 TNNI3K SCN5A SLC25A20 TMEM43 DSP DSG2 JUP CACNA1S HP_ENDOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROSIS LDB3 ACTN2 VCL SP110 MYL3 PDGFRA HP_BACTERIAL_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACTERIAL_ENDOCARDITIS GATA6 GATA4 PRKAR1A NR2F2 CRELD1 HP_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIOVENTRICULAR_CANAL_DEFECT NKX2-6 CCDC22 TBX5 TBX1 DHCR7 NKX2-5 KAT6B GATA1 NEK1 WDPCP RAF1 GATA6 KDM6A GATA4 CRELD1 TRIO MAP3K7 BRAF HYLS1 FANCB PTPN11 NR2F2 MMP21 ZIC3 DYNC2LI1 GLI3 PKD1L1 GJA1 FOXF1 ACVR2B INTU EVC2 CDC45 PUF60 GLI1 EVC LONP1 GDF1 CFC1 FLNA WASHC5 HP_DILATATION_OF_THE_VENTRICULAR_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY NPPA PKP2 RPL10 NDE1 RYR2 GMPPB HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS RSPO2 LIFR PORCN FGFR3 DYNC2LI1 DYNC2H1 WNT3 RBM10 GLI3 DHCR7 NPHP3 TRIP4 PKHD1 PHGDH ETFB KIAA0586 NEK9 CHRNG ACTA1 FGF20 IFT80 ZMPSTE24 KLHL41 BMPER SLC26A2 WDR35 MUSK IFT81 MYRF DOK7 LMOD3 ACE HSPG2 VANGL1 NEB WDR60 REN KLHL40 KAT6B FLNA NSDHL LGI4 BICC1 RLIM RYR1 INVS GLI1 CEP55 NELFA ATP5F1A FRAS1 PIEZO2 EVC SELENON IFT140 IFT172 RARB NAA10 GRIP1 TMEM94 ZFPM2 WDR34 CHRM3 ALG9 SETBP1 TRPV4 ITGA8 CHRNA1 MYL2 HOXD13 CHRND CEP120 NSD2 FUZ BCOR MKS1 ETFDH MYOD1 FLNB SLC25A24 COQ7 GLE1 ADGRG6 FREM2 FANCB FAM20C LETM1 TCTN3 MCTP2 STRA6 PIGN GREB1L NEK1 WT1 TPM2 TRIP11 CC2D2A AGT AGTR1 DONSON ASCC1 WNT4 SLC18A3 INTU EVC2 MKKS LMNA CDC45 SPECC1L WDR19 GLDN TPM3 PTH1R HACD1 PSAT1 ETFA ITGA7 GATA6 TAPT1 NEK8 SMO MAP3K20 LTBP4 RET PEX1 COL2A1 SON CSPP1 RAPSN MYH3 GPKOW NUP88 AARS2 LBR TTC21B HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY ZNF687 ACTA2 SERPIND1 LOX KCNJ5 ELN LDLR SMAD4 ESR1 PRKG1 MLXIPL YY1AP1 ABCA1 GLB1 SMAD3 ABCC6 MFAP5 SMPD1 CYP7A1 ABCG8 LMNA CEP19 TGFBR2 APOE XYLT1 LDLRAP1 MYLK TGFB3 PCSK9 APOB MAT2A NT5E FBN1 TKT PPARG ZMPSTE24 TGFBR1 TGFB2 ABCG5 DYRK1B XYLT2 FOXE3 MYH11 LIPC ENPP1 HGD HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY CHST3 PRDM5 LIMK1 RFC2 BICC1 FGFR1 FBN1 FBN2 RAF1 GANAB GTF2I ABCC6 LTBP3 HRAS TGFB2 ELN RPS6KA3 EXTL3 PTPN11 SACS GNPTAB KRAS MMP2 GATA6 COX7B CLIP2 COMT XYLT1 FMR1 DSE MFAP5 MYRF CLIC2 BRAF JMJD1C MMP14 RPL5 TPM2 GATA4 HCCS MYPN ENPP1 TMEM260 PCGF2 PKD2 HIRA AEBP1 RREB1 VPS13B TGFBR2 NKX2-5 TPM3 COL5A1 ROR2 LMNA TTN VWF COL2A1 PKD1 COL1A2 FLNA XYLT2 IFIH1 TBX1 PLD1 FIBP COL1A1 NOTCH1 GBA RYR1 HGD WASHC5 ZNF469 HCN4 NXN CCDC22 PLOD1 B3GAT3 YY1 TAB2 MED12 MAP3K7 ANK1 MLXIPL SH3PXD2B BCOR TBL2 COL3A1 ATP6V1E1 SELENON SKI MCTP2 AGGF1 MYH7 ARVCF NR2F2 MMP21 ZIC3 POLG CCNQ BRF1 COL5A2 TNXB CBS BAZ1B TGFBR1 SEC24C DCHS1 GJA1 SLC29A3 NDUFB11 SMAD4 GP1BB NONO GTF2IRD1 SMAD3 UFD1 CRELD1 HP_CYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_LIVER_DISEASE TCTN2 RPGRIP1 PKHD1 MKS1 BICC1 EXTL3 SEC63 TSC2 CC2D2A TMEM67 TMEM231 GANAB PRKCSH DZIP1L PKD2 WDR19 RPGRIP1L DNAJB11 TSC1 LRP5 TMEM107 OFD1 NPHP3 CEP290 IFT122 PKD1 ALG8 CEP55 B9D2 TTC21B TMEM216 WDPCP B9D1 CSPP1 HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE RPGRIP1L SPIB FARSB GDF2 PKHD1 ALMS1 JAK2 ELN DOCK6 ENG TMEM67 ARHGAP31 INPP5E DLL4 MLXIPL RECQL4 EOGT CLDN1 PIGM FLT1 IL12RB1 TET2 SP110 STN1 DGUOK CORIN CC2D2A TJP2 SLC30A10 MMEL1 GBE1 GPR35 MST1 ADA2 GLIS3 STOX1 IRF5 DCDC2 POU2AF1 RBPJ NEUROG3 KRIT1 F5 HLA-DRB1 SMAD4 CALR MPL ACVRL1 NOTCH1 TNPO3 BTNL2 NPHP3 SHPK TNFSF15 TCF4 ITCH IL12A HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES SETD5 RSPO2 CDH11 EDARADD CCDC22 WNT3 CCDC47 NSD2 NIPBL PTPRF TUBB FIG4 SLC25A24 IKBKG TWIST2 TP63 WNT7A LETM1 SETBP1 MEGF8 RAD21 PIGN KIF15 EFNB1 LMNA PIGL VAC14 ANTXR1 KDM6B PORCN KMT2A GNE KCTD1 CHRNG EDA USP9X UBR1 NELFA ZMPSTE24 DOLK TBX3 SMC1A HDAC8 SMC3 WASHC5 HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES IDUA PORCN SRCAP BCOR B4GALT7 KIAA0586 ZMPSTE24 FIG4 HOXD13 MSX2 TWIST1 WNT7A LMNA SALL4 ORC1 CDC45 EFNB1 CDC6 PIGL RNU4ATAC VAC14 TRPV4 TBX5 PTEN CHD4 GMNN BGN PTDSS1 BMPR1A ORC6 RUNX2 XYLT1 TRIP11 CDT1 PTH1R NSDHL FBXL3 FAT4 DYNC2LI1 ATP7A RSPO2 FLNA FGFR2 NAA10 ORC4 DCHS1 TBX3 ALX4 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX RSPO2 SLC35D1 GLI3 TMEM231 B4GALT7 KCNAB2 IFT172 INPPL1 ARID1B IFT80 SOX9 SALL4 SETBP1 FLNB WDR35 PIGL ATR TBX5 PORCN RNU4ATAC B3GALT6 PTEN CHD4 PRDM16 GSC ORC6 LMNA TBCK IFT43 RUNX2 COL11A2 TRIP11 NSDHL PTCH1 DDRGK1 TBX15 IFT140 FRAS1 BMP2 FGFR2 FGFR1 WASHC5 DCHS1 ALG12 FIG4 KMT2A SRCAP CEP120 FUZ BCOR NIPBL RERE TBX6 FGFR3 NFASC FLI1 WDR60 MYF5 ROR2 SOX2 SKI CEP152 NFIX ORC1 HES7 KIAA0586 LMX1B TRPV4 RIPK4 PTPN11 PTDSS1 COL2A1 PTH1R FBXL3 C2CD3 GNPTAB DYNC2LI1 ATP7A SMO ACTB DYM FLNA LBR RBM10 WNT3 CHST3 PCNT HOXD13 ZMPSTE24 TWIST1 CENPJ BMPER PAM16 TRPV6 CUL7 TTC21B GPX4 SLC26A2 IFT81 GMNN SF3B4 BMPR1A VANGL1 SMC1A PCGF2 NAA10 ORC4 DDR2 NKX3-2 WDR34 TBC1D24 MSX2 EZH2 ALX4 IDUA COL11A1 CCDC22 B3GAT3 SIX6 WNT7A ERMARD HDAC6 DYNC2H1 ALPL CDC45 EFNB1 NEK1 CDC6 PTCH2 GABRD VAC14 CSPP1 BGN NOG INTU XYLT1 FBN1 CDT1 FAT4 TAPT1 BUB1B EVC SNRPB IFT122 EVC2 RPS19 IHH DNMT3A TBX3 SUFU PUF60 HP_APLASIA_HYPOPLASIA_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS RSPO2 PORCN SLC35D1 WNT3 GLI3 CHST3 KIAA0586 KCNAB2 IFT172 INPPL1 IFT80 CENPJ SOX9 BMPER PAM16 TRPV6 SETBP1 FLNB WDR35 CUL7 TTC21B ATR GPX4 RNU4ATAC SLC26A2 B3GALT6 IFT81 PRDM16 SF3B4 VANGL1 TBCK IFT43 RUNX2 TBX6 COL11A2 TRIP11 SMC1A NSDHL PTCH1 DDRGK1 PTH1R IFT140 GNPTAB COL2A1 BMP2 WASHC5 DDR2 NKX3-2 ORC6 WDR34 TBC1D24 ALG12 FIG4 ORC1 KMT2A EZH2 COL11A1 CCDC22 CEP120 FUZ B3GAT3 RERE FGFR3 SIX6 NFASC FLI1 WDR60 MYF5 FLNA ROR2 ERMARD HDAC6 SOX2 DYNC2H1 SKI CEP152 ALPL NEK1 HES7 PTCH2 GABRD LMX1B VAC14 PTPN11 CSPP1 INTU TRPV4 FBN1 C2CD3 DYNC2LI1 TAPT1 SMO EVC SNRPB IFT122 EVC2 RPS19 IHH DNMT3A SUFU PUF60 LBR HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE FGFR3 COL11A1 SLC35D1 GSC RUNX2 COL11A2 PCNT TRIP11 INPPL1 TBX15 NSDHL ACTB GNPTAB SOX9 RSPO2 FLNA WDR35 FGFR1 DYM VAC14 COL2A1 TBX3 FIG4 RIPK4 HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM RBM10 FRAS1 SETBP1 BUB1B NOG TMEM231 NFIX NIPBL ORC6 PCGF2 FIG4 VAC14 ARID1B ORC1 SOX9 HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA AXIN2 EPCAM DLC1 PLA2G2A NRAS PTPRJ TP53 BUB1B TLR2 MLH3 DCC EP300 AKT1 PMS2 RAD54B TGFBR2 CCND1 FLCN MSH6 MCC ODC1 FGFR3 PIK3CA BAX SRC APC CTNNB1 BUB1 PDGFRL AURKA PTPN12 HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA ABL1 BCR TCIRG1 NSUN2 CEP57 BUB3 TAL2 TRIP13 ELANE BRCA2 BAX SRP54 LIG4 BUB1 NBN GNB1 TAL1 BUB1B PIGL FLT3 NUP214 GFI1 HP_PANCREATIC_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ADENOCARCINOMA RNF43 CDC73 SEMA4A KRAS BRCA2 PALB2 MLH3 MSH2 BRCA1 STK11 TP53 PMS2 TGFBR2 BMPR1A EPCAM SMAD4 CDKN2A MSH6 PMS1 PALLD PIK3CA NTHL1 RPS20 FAN1 MLH1 HP_FOLLICULAR_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_THYROID_CARCINOMA SDHB FOXE1 AKT1 PIK3CA HABP2 SDHC NRAS SRGAP1 MINPP1 KLLN HRAS SEC23B USF3 PTEN SDHD HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN KRT14 DDB2 TYR ERCC5 KRT5 XPC LAMB3 OCA2 GJB6 GJB2 TERT MMP1 RSPO1 TINF2 SLC45A2 LAMC2 ERCC3 ERCC4 LMNA MC1R ERCC2 COL7A1 TERC LAMA3 HP_ADRENOCORTICAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_CARCINOMA IGF2 APC TP53 PRKAR1A CDKN1B CDKN1A CDKN2B KCNQ1 CDKN2C CDKN1C MEN1 KCNQ1OT1 HP_NEOPLASM_OF_THE_STOMACH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_STOMACH PLA2G2A SDHB KIT IL1RN CEP57 MLH1 BAP1 CDKN2A MC1R PTPRJ TP53 CHEK2 BUB1B DCC MGMT APC EP300 TERT BMPR1A STK11 PDGFRA RAD54B SMAD4 ACD MCC PRKAR1A MSH6 FGFR3 TREX1 BUB3 CASP10 PTCH2 CTNNB1 BUB1 CDK4 RPS20 PDGFRL AURKA KRAS BCL10 AXIN2 FGFR2 DLC1 IRF1 SEMA4A CDKN2B SDHA NRAS TLR2 MLH3 IL1B TERF2IP SDHC AKT1 PTCH1 POT1 MSH2 MSH3 CCND1 FLCN MUTYH ODC1 PIK3CA ENG TRIP13 BAX SRC ERBB2 KLF6 MITF SUFU CDH1 PTPN12 HP_CHONDROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROSARCOMA NR4A3 TAF15 EXT2 EXT1 IDH1 IDH2 PTH1R HP_PAPILLARY_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_RENAL_CELL_CARCINOMA FOXE1 MET CDC73 HABP2 LMNA PRCC MINPP1 FH HP_PITUITARY_PROLACTIN_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_PROLACTIN_CELL_ADENOMA AIP PRKAR1A MEN1 CDKN1B CDKN1A GPR101 CDKN2B CDKN2C HP_DUODENAL_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ADENOCARCINOMA BMPR1A APC GREM1 MLH1 MSH2 NTHL1 SMAD4 HP_OVARIAN_PAPILLARY_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA INHBA PIK3CA CTNNB1 PRKN AKT1 OPCML CDH1 HP_ALVEOLAR_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RHABDOMYOSARCOMA KEAP1 DICER1 FOXO1 PAX7 PAX3 HP_POSTERIOR_PHARYNGEAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PHARYNGEAL_CLEFT TNFSF12 CR2 ICOS PRKCD TNFRSF13B MS4A1 NFKB2 CD19 NFKB1 CD81 MID1 TNFRSF13C HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY FHL1 TRAPPC11 LMNA TMEM43 ANO5 SGCA HNRNPDL DAG1 HNRNPA1 POMT2 SYNE2 EMD CRPPA SYNE1 ACTA1 HP_BASAL_GANGLIA_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CYSTS ADAR GFM1 NUP62 CPT2 MT-ATP6 PDHA1 HP_HYPERACTIVE_DEEP_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES SAMD9L STUB1 MRE11 MECP2 CNNM2 GALC PRSS12 ATXN2 SDHAF1 PRPS1 TIMM8A GJA1 PRRT2 PRNP SDHA PMP22 KCNC3 BEAN1 TANGO2 ATP6AP2 MAB21L1 SMG9 UROC1 SDHB C19orf12 SLC2A1 SDHD EGF ATXN1 OFD1 HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY SMN2 ATXN3 GLE1 NEFH CEP126 CPLANE1 SETX SMN1 UBA1 TFG VRK1 ASAH1 PRPH DCTN1 SOD1 IGHMBP2 HP_CEREBRAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOMYELINATION PIGY VPS11 RARS1 STXBP1 EIF2B3 PIGO TUBB4A EIF2B4 EIF2B5 SLC1A4 GJC2 POLR3B CYB5R3 PIGL EIF2B2 BCAP31 SOX10 PHGDH PIGW CYB5A EIF2B1 WDR26 SLC25A12 PGAP3 SPATA5 TBCD PGAP2 ADSL PIGV FAM126A HP_FOCAL_HEMICLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_HEMICLONIC_SEIZURE SCN9A GABRA1 PCDH19 STXBP1 SLC12A5 SCN1A SCN2A GABRG2 SCN1B HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS RD3 RAB3GAP1 NPHP3 TMEM231 PHGDH TMEM237 GRM1 TUBB SMARCC2 FRMD4A KCNJ13 POMT1 IFT172 B4GAT1 TCTN3 ARID1B IFT80 PPP1CB FKRP GPC3 SMARCD1 LARGE1 IFT140 CC2D2A B4GALT1 SMG9 SACS CEP55 RAB3GAP2 ATR CPLANE1 RNU4ATAC KIF7 TMEM138 TUBB3 PCYT1A MEF2C MPL POMGNT2 WDR35 NPHP1 ACY1 CSPP1 FKTN NRAS SOX11 ATP2B3 AIPL1 INTS1 NCAPG2 PLG LAMA1 PIEZO2 SRD5A3 B9D1 SEMA3E HRAS CHD7 TRIP13 WASHC5 TMEM216 DENND5A PRKDC SLC35A2 TFAP2A RPE65 NID1 RPGRIP1 CEP120 INPP5E ASXL1 TCTN2 TMEM67 KIAA0556 GPC4 WDR60 SUFU SMARCB1 WDR81 C2CD3 NUP37 BUB3 OFD1 CEP290 POMGNT1 PIGN RPGRIP1L ARL3 PSAT1 KIAA0586 RERE COG1 KLHL7 FGFR1 TCTN1 BRF1 KRAS GLI3 EBP RAB18 ATP6V0A2 SLC18A3 IQCB1 TAF1 CRB1 TBC1D20 CENPF SMARCA4 GMPPB IGF2 MKS1 POMT2 AHI1 ARL13B RDH12 ASXL3 CEP104 MVK ZNF423 DPF2 RAPSN RBM10 MRE11 SPATA7 RAC1 CEP57 ATP6V1A ATN1 TUBA1A FAR1 FAM149B1 LCA5 GDF6 FOXC1 CEP41 ZIC1 IMPDH1 EPG5 ARMC9 HYLS1 PGAP1 DHCR7 RNF113A B9D2 WDPCP COL4A1 CRPPA DOK7 TULP1 GRIA3 CDC42 DCHS1 KIAA0753 DPH1 PCGF2 TBCK RXYLT1 L1CAM TRRAP RAB11B WDR34 TBC1D24 ITPR1 BUB1B POMK CCDC22 PACS1 TMCO1 SOX4 BMP4 FLVCR2 GOT2 MYOD1 NMNAT1 SLC25A24 ALX4 SMARCE1 FAT4 KCNQ1OT1 DAG1 GUCY2D ARID1A DYNC2H1 CEP164 NEK1 BUB1 CDKN1C ATP6V1E1 TSEN34 PIBF1 USP9X ARID2 MUSK B3GALNT2 SPECC1L KCNQ1 SLC25A19 TMEM107 FTO EVC MAB21L1 CRX EXOSC8 EVC2 PMM2 CWF19L1 POLR3A WDR73 PDE6D LRAT AP1S2 NUP88 USP45 HP_ATROPHY_OF_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_OF_THE_SPINAL_CORD DNAJC3 FXN CYP7B1 PNPLA6 FA2H MORC2 ALDH18A1 SPG7 CCT5 LMNB1 HP_SEVERE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_MUSCULAR_HYPOTONIA PEX14 GPT2 TBC1D24 TRIP4 TBCD CCDC88A CARS2 PEX11B MYMK LARGE1 NEB MYL1 ACTA1 GCH1 PEX10 POMT1 PEX13 B4GAT1 PEX16 KLHL41 POMGNT1 MFF BICD2 FKRP ZNHIT3 STRADA ITPA DPM2 SPEG POMT2 PEX12 PIGN ASCC1 NDUFS6 LMOD3 PEX26 B3GALNT2 IBA57 TBCK PEX1 KLHL40 PEX3 MPLKIP FKTN PEX5 MPZ BMP4 FKBP14 PEX6 KIF1A SLC39A8 TPM3 SLC25A12 PIGG CCDC174 GRIN1 ABAT PEX2 UBA1 PNPT1 RMND1 SPTBN4 VAMP1 SLC25A1 MTM1 LMNA PEX19 AIFM1 TBCE HP_ACUTE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_ENCEPHALOPATHY ACY1 SLC25A15 PCCB NDUFS4 PCCA COG8 RANBP2 SLC22A5 HP_CEREBELLAR_VERMIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_VERMIS_ATROPHY TMEM240 CACNA1G RNU12 CUL4B XRCC4 HTT CHP1 TUBB SCYL1 SACS LMX1B DAB1 STXBP1 GJB1 GRID2 KIF1A TDP1 QARS1 ATXN8OS PIK3R5 TRPC3 CACNA1A CACNA2D2 FA2H ITPR1 MME PUM1 DLG4 PEX16 PRKCG SETX HP_IMPAIRED_DISTAL_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_PROPRIOCEPTION POLG DARS2 POLR3A TWNK TDP1 CYP7B1 HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY HERC1 SPATA5 TAF1 RSPRY1 POGZ GRIA3 ARID1B HP_LOBAR_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBAR_HOLOPROSENCEPHALY TMEM107 TCTN2 RPGRIP1 MKS1 CEP290 RTTN CC2D2A TMEM67 TMEM231 CEP55 B9D2 FGFR1 TMEM216 WDPCP RPGRIP1L B9D1 CSPP1 HP_CEREBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOPLASIA KIF14 CEP152 CSPP1 WDR45B ASPM CEP63 NCAPD3 SASS6 MKS1 RTTN MYSM1 TAF13 ANKLE2 CEP135 FH KNL1 PHC1 C2CD3 CENPJ WDR62 MCPH1 PHGDH BUB1B MFSD2A STIL COASY CDK5RAP2 ARHGEF9 HSD17B4 DHCR7 HHAT PYCR2 BRAF METTL5 KIAA0586 VAC14 CIT RNU4ATAC FIG4 MAP11 CDK6 COPB2 HP_PONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PONTOCEREBELLAR_ATROPHY FA2H DPM1 RORA SETX CCDC88C LAMA2 HP_IMPAIRED_DISTAL_VIBRATION_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION CACNA1G KCNC3 FMR1 TWNK POLG LRSAM1 KCND3 SPAST ABCD1 PDYN SETX B4GALNT1 REEP2 KIF5A DCAF8 GBA2 PRKCG ALDH18A1 HP_INTELLECTUAL_DISABILITY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE L2HGDH KDM5C SUCLA2 SLC16A2 SNAP29 MECP2 PTS KCNH1 CTSD DDB2 GCH1 UBE3A TK2 SRD5A3 MGAT2 XPA ARHGEF9 TONSL NDP ERCC3 HCCS ERCC5 TSHB CC2D1A ATRX AIFM1 ERCC2 AP4M1 B3GLCT AHSG COX7B DMPK SLC35C1 KAT6B XPC SLC9A6 NDUFB11 ARX UROC1 NKX2-5 ERCC4 MTRR TCF4 PEX1 NDE1 RAB3GAP2 ACOX1 OFD1 WDR81 HP_MENINGOENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOENCEPHALOCELE POMT2 POMT1 FKTN FKRP LARGE1 HP_INTELLECTUAL_DISABILITY_BORDERLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_BORDERLINE YY1AP1 DMPK KCNMA1 GABRG2 GRIN2A TRAPPC11 TRIO SRPX2 ENTPD1 HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY C9orf72 PLA2G6 GRN TREM2 SQSTM1 TMEM106B CHMP2B PSEN1 VCP MAPT SPG21 PRKAR1B COG4 HP_LOWER_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERTONIA KDM5C RARS1 LBR MTRR PNPT1 SDHAF1 SPG7 ALDH18A1 KDM1A MTPAP FA2H SDHB ATL1 ATRX SDHD SDHA SLC33A1 HP_CRANIAL_NERVE_VI_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_NERVE_VI_PALSY CDH23 AIP TRPV4 MEN1 WDR26 CCDC174 HP_FRONTAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_CORTICAL_ATROPHY POMT2 MEF2C VCP CYB5A SCYL2 CYB5R3 PARS2 HP_INABILITY_TO_WALK_BY_CHILDHOOD_ADOLESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INABILITY_TO_WALK_BY_CHILDHOOD_ADOLESCENCE GDAP1 MFN2 TK2 GLRX5 SUCLA2 HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR DEAF1 C9orf72 NALCN SHANK3 DHCR7 KMT2E CAMTA1 NSDHL SLC6A8 CHD2 PIGH PTCHD1 SCN11A RTTN TSC2 KCNAB2 STXBP1 NAGS SLC1A4 SLC25A13 CHMP2B ARID1B SARS1 EFHC1 TCF4 SASS6 KIF11 RORB RPS6KA3 NAT8L GRIN1 SETD2 SLC2A1 ATRX ADSL MED13L MED25 RAI1 PRDM16 VAMP2 PUS7 KMT2A WASF1 MANBA SLC6A17 JRK ELP2 TMEM231 CLCN2 NFIX SH2B1 GNAO1 WARS2 BPTF GABRD USP9X DGCR8 VPS13A UBE2A EEF1A2 CPLX1 ADNP ATP1A1 HSD17B10 WDR45 SCN2A SPAST TRIP12 TMCO1 DYNC1I2 ZMYND11 PRNP TBX1 SLC25A22 ANK3 SMARCA2 GCSH CASK LINGO1 MECP2 KDM5C USP7 GLS PIGQ ESS2 NKAP GATAD2B CTNNB1 BCOR NIPBL RERE NRXN1 NFASC NAGLU MAPT RUSC2 TIMM50 C12orf4 AFF2 KCNT1 NTNG2 HTR2A DDX3X MBD5 AP2M1 SPR UQCC2 SLC6A4 DGCR6 SYN1 CUX2 GLDC ADAT3 IQSEC2 SKI HNRNPH2 NAA10 HDC TMEM240 KMT2C WAC CILK1 NTRK1 TBC1D24 ABCA12 TREM2 NDP PUS3 AP1S2 TRIM8 BCAP31 TBP OCRL EBP RBBP8 ARX UBTF PANK2 NONO LARP7 VCP ENTPD1 MED12 TYROBP GAMT PIGY CUL4B SLITRK1 SLC52A2 DNM1 TRIO PLA2G6 DMXL2 PSMD12 TTC19 CEP152 PRRT2 CLCN4 SYT1 IMPA1 INPP5E PPP2R5D GRN FIG4 SLC6A1 EP300 ATP7B FRMPD4 ALDH5A1 KIF15 THOC2 SIN3A UNC80 CACNB4 GRIA3 LEPR POGZ GABRA1 ZBTB20 PIGL FOXP1 PIGP ATP13A2 TCF20 EHMT1 KCNQ3 WDR62 FMR1 DCHS1 DNMT3A SOX5 TTI2 SMC1A RPL10 DMPK RLIM MYT1L HERC2 ATXN10 SQSTM1 CREBBP PRODH CLTCL1 CNTNAP2 FLII DPYD PCDH19 PNKP TKT ABCA2 MGAT2 FAT4 TSC1 PAK3 SIK1 NDST1 PACS1 KCNA1 DGCR2 TMEM106B PHIP MAN1B1 CDKL5 GJB2 HECW2 PSEN1 GABRB3 SATB2 SCN1A KNL1 HPRT1 LINS1 DPAGT1 NEUROD2 PAH EIF2S3 MAOA PYCR2 MAPK10 UROC1 ECM1 NFIB KPTN AMT MAB21L1 NDE1 SCN1B SPATA5 GABBR2 FGF14 SMARCC2 HP_CONGENITAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NYSTAGMUS TULP1 ADAR LRP5 NUP62 TBC1D24 PAX6 FRMD7 BLOC1S6 CNGB3 MT-ATP6 HP_IMPAIRED_DISTAL_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_TACTILE_SENSATION KLHL9 SETX MPV17 DCAF8 HARS1 HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES CACNA1G ABCD1 B4GALNT1 REEP2 GBA2 PRKCG KCND3 ALDH18A1 SPAST HP_RETROCEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROCEREBELLAR_CYST SNX14 ZSWIM6 AHDC1 GRIA3 DOCK6 GRM1 OPHN1 HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA TSEN54 POMGNT1 ATXN2 POMT2 RTTN POMT1 PMM2 GMPPB PPP2R1A TOE1 POMK FKRP HP_DILATION_OF_LATERAL_VENTRICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATION_OF_LATERAL_VENTRICLES CSPP1 D2HGDH RAC1 NFIX TNFRSF11A NDUFB11 PUS3 HS6ST2 ZIC1 PPP2R5D ATP6AP2 KIDINS220 CCDC174 NEK1 GRN SON PSAT1 KIAA0586 COG5 TUBB2B MED25 GCDH TUBB3 EZH2 SLC35A2 HP_LOSS_OF_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_ABILITY_TO_WALK RRM2B MAPT AP4S1 SDHAF1 VAC14 ADAR GMPPB SDHA FKRP RNASEH1 MT-ATP6 PLEC KLHL9 POMT2 REPS1 DNAJB6 LRP5 DES ERBB4 NUP62 POMT1 TWNK FAM126A BVES DYSF CRAT SDHB FA2H SDHD LARGE1 HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS OTOF EBP GALC SH3TC2 MYH3 GJC2 DIAPH3 PSAP TIMM8A NDRG1 ERCC6 SOX10 OPA1 MTMR2 EDNRB ERCC8 HP_JERKY_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_HEAD_MOVEMENTS CACNA1H GABRB3 PIGT MAPT GABRG2 SLC2A1 PRNP GABRA1 VAMP1 DLAT JRK HP_PERIVENTRICULAR_LEUKOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_LEUKOMALACIA DDHD2 BRF1 TET3 ERCC3 RBPJ CLCN4 TRMT1 TARS1 MPLKIP DOCK6 ARHGAP31 NOTCH1 EOGT TBCK AARS2 DLL4 ERCC2 SON PC MORC2 USP7 GTF2E2 PUF60 ARID2 GTF2H5 RNF113A HP_SLEEP_WAKE_CYCLE_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_WAKE_CYCLE_DISTURBANCE TELO2 GRIA3 PER2 PER3 KIF15 DHCR7 TAF1 NRXN1 UBE3A APOE CNTNAP2 CDKL5 RAI1 PSEN2 CSNK1D HP_PROGRESSIVE_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY COA8 SDHAF1 SDHD PLAA KIF5A SDHA AARS2 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 CCT5 HP_UPPER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_SPASTICITY ALS2 GJC2 CLCN4 WASHC5 THOC2 SELENOI PIGA CYP7B1 ERLIN2 GBA2 KIF5A RARS2 SPART ZFYVE26 ACTL6B HP_DYSPLASTIC_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPLASTIC_CORPUS_CALLOSUM GPSM2 EARS2 HSPA9 PIGH NT5C2 KIAA0586 DCHS1 MCOLN1 SIN3A NONO SON PUS3 THOC6 RTTN FAT4 AGTPBP1 TBCK TUBA8 HP_BASAL_GANGLIA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_GLIOSIS SURF1 ADAR NDUFAF3 NDUFB8 VRK1 NUP62 SCO2 NDUFS2 PRNP MT-ATP6 HP_MORNING_MYOCLONIC_JERKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_MYOCLONIC_JERKS CSTB KCNQ3 PRICKLE1 JRK CILK1 CACNB4 CLCN2 GABRA1 EFHC1 GABRD 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 CACNA1G NOP56 SACS TSEN54 ATXN1 HP_MOTOR_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_AXONAL_NEUROPATHY ALAD COASY WDR48 AAAS HNRNPA1 CTDP1 GMPPA KCNK9 HARS1 HINT1 KLC2 WARS1 PEX10 VCP PLEKHG4 SPG7 AIFM1 TBCD C19orf12 PNPLA6 MORC2 GAN TRAPPC11 HNRNPA2B1 XK HP_POOR_FINE_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_FINE_MOTOR_COORDINATION GABRA1 DARS2 PCDH19 GABRD SNORD116-1 C12orf65 DCC NTN1 PRNP RAD51 SLC30A10 STX1B VCP SCN9A FXN FMR1 SCN1A CXCR4 SNRPN RDH11 PWAR1 PIEZO2 GABRG2 PWRN1 NDN ADGRV1 RNU12 C19orf12 DNAL4 HCN1 SCN2A PPP2R2B MFN2 PDHX GNB5 DMPK RAI1 FOXP2 HERC2 STXBP1 SCN1B NPAP1 MKRN3 MAGEL2 SNORD115-1 HP_POOR_GROSS_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_GROSS_MOTOR_COORDINATION POMT2 POMT1 FOXP2 HERC2 NPAP1 SNORD116-1 MKRN3 MAGEL2 SNRPN PWAR1 KCNQ2 PDHX GMPPB PWRN1 SNORD115-1 NDN FKRP LARGE1 HP_CORTICOSPINAL_TRACT_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICOSPINAL_TRACT_HYPOPLASIA IQSEC2 L1CAM DEAF1 RAI1 FLII HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER PPM1D DRD4 DNM1 DHCR7 SLC6A8 LIMK1 PTCHD1 CLCN4 TSC2 SCN3A STS DHTKD1 STAG2 SLC13A5 PMS2 SIM1 ACTL6B LHCGR FTSJ1 EPCAM HOXA2 KIF11 ELN CNKSR2 UPF3B GABRG2 DRD5 SLC1A2 PWAR1 CLTC SETBP1 ATP6V1A NIPBL GNAQ GNE RAI1 RAB39B HCFC1 TSC1 SCN8A FGFR3 ARHGEF6 TBX1 DYM HSPG2 SYNJ1 MED12 CACNA1H WWOX CHRNA7 MLH3 GNB5 TRAK1 CXorf56 MSH2 GALC RREB1 SEMA3E CPLX1 ADNP NTRK2 NPAP1 CHD7 ARX CRBN ABCD1 BCORL1 SPRED1 TMCO1 IL1RAPL1 DYNC1I2 SMC3 GABRA2 SH3KBP1 FGD1 NKAP PIEZO2 YY1 FLI1 RSRC1 MLXIPL CACNA1B TGFBR2 C12orf4 SMPD1 YWHAG RAD21 MCTP2 IGF1 ARVCF RPS6KA3 MID2 RERE NDN IKBKG MAPK1 GLUD1 IQSEC2 SEMA4A ASPM HDC BAZ1B MED13 TAF1 WAC CYFIP2 UBE3A TBC1D24 NDP TSPAN7 SIN3A ALKBH8 MECP2 OCRL HERC2 ZDHHC9 TLK2 DPP6 AP3B2 EEF1A2 MAGEL2 GP1BB KCNB1 SMC1A GTF2IRD1 PIK3CA UFD1 RIC1 STXBP1 FAN1 SNORD115-1 NUS1 CACNA1A ACSL4 SH2B1 GRIN2A TET3 RFC2 PCNT GRIN2D LIG4 PANK2 CDK8 GTF2I PRKCG IFNG BMPR1A FOXP1 USP27X KIF14 DEAF1 SRPX2 SPG7 SNRPN CLIP2 CRKL COMT NECAP1 GABRA1 SZT2 OPHN1 JMJD1C AARS1 FMR1 UBA5 SOX5 VPS13A NOP56 ARV1 PCGF2 ALG13 AGTR2 AUTS2 HIRA BCR PAK3 GRIA4 NSUN2 MSH6 PMS1 MKRN3 JRK GABRB3 PARS2 ZNF41 MLH1 DPH1 FLII SETD5 CIC FRMPD4 KRAS KCNA2 TKT ZNF711 TRIO SNORD116-1 PPP3CA DLG3 GABRB2 GATA4 SYP TBL2 CSNK2A1 GDI1 DMD SLC9A7 PHIP POLA1 PWRN1 RPS20 USP7 KMT2A TUBB2B MAP11 SATB2 FGF12 DNAJC12 DHDDS HDAC4 TIMM8A SEC24C GABRA5 PAH PRNP THRB ARF1 USP9X NBN HCN1 SLC2A1 NR2F1 SYNGAP1 HDAC8 SLITRK1 ARID2 ZNF81 HP_PROGRESSIVE_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA KDM5C NDUFS1 TACO1 AP5Z1 NDUFAF6 LIPT1 MT-ATP6 COX15 NDUFS3 NDUFS2 SELENOI AP4E1 NDUFS4 NDUFAF5 FLRT1 NDUFA10 NDUFA12 PNPLA6 NDUFS8 NDUFV2 PGAP1 NDUFA13 MTFMT ECHS1 FA2H NDUFS7 KIDINS220 WASHC5 ATP13A2 NDUFA2 SLC33A1 KLC2 CCT5 SURF1 AP4S1 NDUFV1 MARS1 FOXRED1 RAB3GAP2 NDUFA4 KY AP4B1 PET100 ZFR NDUFAF2 AP4M1 KIF1A SDHA IBA57 NDUFA9 FARS2 RTN2 PDHA1 ARSI CPT1C SLC19A3 HACE1 HP_PAIN_INSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_INSENSITIVITY SCN9A GRIA3 TDP1 ZFHX2 NGF NTRK1 SCN11A NGLY1 MPV17 CLTCL1 DDHD1 HP_PSEUDOBULBAR_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_PARALYSIS CYP27A1 TGM6 RARS1 NEFH LMNB1 NONO ALDH18A1 B4GALNT1 ERLIN2 ZFYVE26 PRPH NOTCH3 DCTN1 SOD1 HP_CEREBRAL_BERRY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_BERRY_ANEURYSM TGFBR3 THSD1 COL3A1 ENG PKD1 ANGPTL6 HP_CEREBELLAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_DYSPLASIA LAMA1 GPSM2 POMT2 RAC1 RXYLT1 B3GALNT2 CDC42 KIAA0586 THOC2 FKRP KIAA1109 LARGE1 POMT1 FKTN PI4KA COG1 POMGNT1 HP_GENERALIZED_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERREFLEXIA ERCC2 SLC2A1 ERCC3 TARS1 EEF2 MPLKIP GTF2E2 GTF2H5 RNF113A SPG7 SLC52A3 HP_HYPOPLASIA_OF_OLFACTORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_OLFACTORY_TRACT TMEM216 FAM149B1 KIF7 CPLANE1 TCTN3 PDE6D OFD1 KIAA0753 SOX9 HP_FOCAL_WHITE_MATTER_LESIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_WHITE_MATTER_LESIONS SLC25A4 ADNP RRM2B TWNK POLG2 TSC2 MTOR C12orf65 TREX1 TSC1 RNASET2 POLG HP_LARGE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BASAL_GANGLIA MBOAT7 ZEB2 NSUN2 TRAPPC9 TNIK CC2D1A FRRS1L B3GALNT2 NDST1 EDC3 LMAN2L DCPS CRBN PRSS12 MED23 KDM5B HNMT CRADD GRIK2 TECR METTL23 WASHC4 SLC45A1 PGAP1 C12orf4 PIGC FMN2 LINS1 FBXO31 MAN1B1 MED25 EZR TUSC3 RSRC1 ATR SARS1 ST3GAL3 IQSEC1 AIMP1 TUBB3 ZC3H14 CLIP1 HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES IFIH1 SLC25A15 D2HGDH TREX1 TRAPPC9 RNASEH2A SAMHD1 PUS3 RNASEH2C ADAR RNASEH2B HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA PLA2G6 SRCAP SCN1B GABRD SCN1A HSD17B4 TBP HCN1 SCN2A SCN9A GABRG2 ADGRV1 STX1B HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY MT-CO2 GSN MT-ND6 MT-CO1 IBA57 MT-TF HADHB MT-TW MT-TS2 MT-TQ MT-ND5 HADHA MT-TL1 MT-ND1 MT-ND4 MT-TH SPG11 DKK1 MT-CO3 HP_INFERIOR_VERMIS_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_VERMIS_HYPOPLASIA BRF1 KIAA0556 PIEZO2 LAMA1 BMP4 L1CAM INTS1 GRM1 HP_THICK_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_CORPUS_CALLOSUM HERC1 SZT2 PIK3R2 PRMT7 VPS13B HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY IFIH1 ATP6AP2 TREX1 OPA3 RNASEH2A MAPT SAMHD1 RNASEH2C MICU1 PRNP TAF1 HLA-DQB1 ADAR RNASEH2B HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS TRPV4 MPV17 MORC2 ATXN1 HK1 FXN HSPB8 HP_DILATED_THIRD_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_THIRD_VENTRICLE C2CD3 DNMT1 CSPP1 KIAA0586 ATP6AP2 USP7 MED25 HP_HYPERACTIVE_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_PATELLAR_REFLEX C19orf12 IBA57 ALDH18A1 ATP13A2 SDHAF1 PGM3 NONO SDHB SACS ARL6IP1 SDHD SDHA HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION HTR2A APOL4 DRD3 SYN2 MAPT CHI3L1 DAOA APOL2 COMT RTN4R MTHFR HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION PAX2 SLC39A14 SMO MAF POLR3A ELN FGFR2 CDC45 STAT3 NFIA NONO NOTCH3 DHDDS MLXIPL HRAS PPP1CB DNMT3A SETBP1 DKK1 SKI HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI GALC ADSL LAMA2 UBE2A TREX1 POLG SAMHD1 TYMP PSAP HP_INFANTILE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ENCEPHALOPATHY D2HGDH SLC19A3 ZNHIT3 TSEN54 CCDC88A STXBP1 GCDH TK2 HP_DEMYELINATING_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY DNAJC3 ACO2 DMXL2 ERCC5 RFC1 RNASEH2A HK1 MANBA MT-TV MT-ND4 SELENOI GJC2 RRM2B ADAR HARS1 RNASEH2B AFG3L2 POLG IFIH1 DEGS1 MT-TL1 MT-ATP6 PMP22 TREX1 MT-ND1 SAMHD1 ERCC4 MT-ND3 RNASEH2C ERCC2 MT-TK SACS MT-TW MT-ND5 ERCC3 SOX10 MT-ND6 SPTBN4 MT-ND2 ZFYVE26 BAG3 TYMP RNF168 HP_PERIVENTRICULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_CYSTS OCRL FGFRL1 CTBP1 LETM1 LIPT2 CPLX1 NSD2 GLUL HP_CENTRAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOVENTILATION GDNF NDUFAF3 DCTN1 TPM2 MECP2 ASCL1 EDN3 MYPN PHOX2B RET SURF1 NDUFB8 SCO2 NDUFS2 NDUFAF2 TPM3 HP_TEMPORAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_CORTICAL_ATROPHY CHMP2B GRN VCP C9orf72 TREM2 COG1 MAPT CYB5A CYB5R3 PSEN1 TMEM106B HP_PROXIMAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_AMYOTROPHY SGCB CAPN3 SGCD GFPT1 TCAP ANO5 COL6A2 MYOT FUS TMEM43 TNNT1 FKRP FKTN POMT1 SMN1 EMD FHL1 PEX6 REEP1 DYSF COL6A1 MORC2 CRPPA MT-TE SYNE2 TRPV4 RYR1 MYH7 DYNC1H1 SYNE1 COL6A3 TNXB COL12A1 SLC52A2 STIM1 DOK7 POMT2 TFG MGME1 LMNA ADSS1 HNRNPDL HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY COA8 PSAP ARSA ABCA1 LYST HP_SENSORIMOTOR_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORIMOTOR_NEUROPATHY MRE11 DNAJC3 PDK3 MT-ND6 TFG RRM2B GALC SLC52A2 UCHL1 PNKP MT-TW SPTLC2 MT-ND4 B4GALNT1 AHCY NGLY1 AFG3L2 POLG SLC30A10 RNASEH1 CLCF1 MT-CO3 MT-TL1 MT-ATP6 PEX6 MT-TF PPP2R2B MT-ND3 NEFL MT-TK SACS HADHA PEX7 PDYN MT-ND2 MME KIF5A LAMA2 TYMP IFRD1 MT-CO2 IGHMBP2 PHYH RFC1 NEFH GBA2 MT-TS2 ATP1A1 MT-TV PSAP MT-ND1 SCYL1 HSD17B4 AIFM1 ABHD12 IARS2 GJB1 KIF1A MT-CO1 CLP1 TDP1 HADHB PIK3R5 DNM1L XRCC1 AMACR MT-TQ MT-ND5 MPV17 MT-TH DHH RPIA SETX OPA1 FDX2 HP_DISTAL_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_AMYOTROPHY BSCL2 ALS2 PDK3 RYR1 CAV3 GARS1 MATR3 INF2 FLNC CPLANE1 NGLY1 TRPV4 ACTA1 SPG11 GDAP1 HARS1 TIA1 HINT1 SLC39A13 LDB3 KLHL9 FXN CEP126 GJB1 PLOD3 DYSF SLC25A21 SLC52A3 DCTN1 SQSTM1 VCP REEP1 HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER GAMT WDR73 PLA2G6 CLPB RARS1 FA2H ZNF592 ATP13A2 MICU1 HP_FLUCTUATIONS_IN_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUCTUATIONS_IN_CONSCIOUSNESS MT-CO2 MT-ND6 NDUFAF3 MT-CO1 MT-TF MEN1 MT-TW MT-TS2 MT-TQ MT-ND5 SURF1 MT-TL1 SNCB NDUFB8 MT-ND1 MT-ND4 SLC25A13 GBA MT-TH SCO2 NDUFS2 SNCA MT-CO3 HP_SLOWED_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOWED_SLURRED_SPEECH DNAJC6 SYNJ1 MAPT PODXL SPG7 HP_PERIVENTRICULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_HETEROTOPIA ERMARD FLNA RTTN KAT6B TMTC3 SLC25A24 C2CD3 FAT4 ARFGEF2 MAN1B1 ZSWIM6 ARF1 CSF1R NEDD4L ANKRD11 DHCR7 DCHS1 MAP1B FMR1 HP_PAROXYSMAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSKINESIA PNKD PRRT2 KCNMA1 SLC2A1 SCN8A HP_MOTOR_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_POLYNEUROPATHY MYO9A TFG GARS1 ALDH18A1 SLC12A6 VAMP1 COL13A1 AGRN TRPV4 SELENOI ARL6IP1 SPG11 SNAP25 GJC2 PPOX CTDP1 CHAT HINT1 BSCL2 SLC5A7 SYT2 SCO2 SLC18A3 SLC25A1 REEP1 HP_PERIPHERAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPOMYELINATION GDAP1 SOX10 KCNJ10 FIG4 EGR2 CTDP1 HK1 HP_LOSS_OF_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_CONSCIOUSNESS SLC19A3 TBK1 KCNE1 MT-CYB MTRR TICAM1 STAT6 TLR3 NAB2 COG6 KCNQ1 CPT1A ACADM TRAF3 NAGS GK UNC93B1 HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX TARDBP PC TBK1 SQSTM1 VCP CHCHD10 FUS C9orf72 HP_PROGRESSIVE_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPARESIS SELENOI FA2H GALC TBCE CPT1C SPG7 HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES CASK NDUFAF3 PIGQ VPS11 HEPACAM PNKP POMT2 DMXL2 NEUROD2 STXBP1 NDUFB8 HTRA1 TRIM8 SIK1 TIMM50 KCNA1 POMGNT1 POMT1 ARX GNAO1 SCN2A CDKL5 HERC1 SURF1 GMPPB SCN1B PLEKHG2 SCO2 NDUFS2 POMK FKRP SLC25A22 PIGP HP_HEMIMEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIMEGALENCEPHALY TSC1 NRAS SMO TSC2 PTEN HRAS AKT3 KRAS DEPDC5 MTOR IFNG HP_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_AMYOTROPHY PDK3 CUL4B KDM5C TFG HK1 TCAP HSPB1 ANO5 FLNC YY1 FGD4 LMNA HINT1 FLRT1 MAG KIF1A DYSF CYP7B1 MORC2 KIF5A MT-TE SLC33A1 KLC2 RYR1 NEFH TPM2 INF2 MYPN ATL1 KY MFN2 TPM3 BICD2 ATXN3 GJB1 ADSS1 FAM126A FARS2 ATAD3A GNE RTN2 FBXO38 ARSI CPT1C HP_MACROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGYRIA DHCR24 RXYLT1 POMK FKTN LARGE1 PHGDH POMGNT2 NFIX POMGNT1 CASK PEX2 POMT1 FKRP B3GALNT2 ACTG1 POMT2 B4GAT1 ACTB PSAT1 COL4A1 DAG1 CRPPA HP_PROGRESSIVE_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_GAIT_ATAXIA GABRA1 PCDH19 TWNK ALDH18A1 EEF2 ANO10 ARSA POLG PSAP TPP1 SACS UBE3A MT-ATP6 ATXN3 SCN1A SCN9A GJB1 PEX10 STXBP1 MTPAP SCN2A GABRG2 SPTBN2 SETX FA2H SCN1B ATP13A2 SYNE1 HP_ABNORMAL_PYRAMIDAL_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PYRAMIDAL_SIGN SNX14 PDGFRB CAMTA1 SLC1A4 MPLKIP CLCN4 NKX6-2 PSAP ERLIN1 ATXN8OS EPCAM NUBPL PEX7 TPP1 MEFV GCH1 MAG IL12A-AS1 NEFL SACS VPS13C GMPPB PDYN WASHC5 SLC2A1 RAB39B MAPT ARHGEF6 C19orf12 ADD3 REEP2 CCR1 MLH3 MSH2 EXT1 KLRC4 AP4E1 IREB2 KIF1A TGM6 NUP62 PRNP ARX MORC2 SDHB SLC33A1 TAF2 COQ2 GAN TTPA ATXN3 IL1RAPL1 NT5C2 RNF113A CACNA1G ATP6AP2 L2HGDH KDM5C UCHL1 REEP1 TSEN2 PHYH GJC2 KCNC3 UBAP1 ALDH18A1 KIF5A DNAJC6 TREX1 FTL C4A NALCN RPS6KA3 MID2 PNPLA6 ARSA SQSTM1 PLP1 SLC39A14 FA2H MTPAP DDHD2 COL4A1 RFC1 TBP KY TSPAN7 PODXL ABHD12 RNASEH2B BCAP31 JAM2 GLRX5 FAM126A FARS2 TFG CLPB CHCHD10 SDHD DDC FAS ZFYVE26 CTC1 AP4B1 C9orf72 DPM3 ALS2 TARDBP DARS2 NDUFS2 GPT2 IL12A PRSS12 ETHE1 SDHAF1 TTC19 C12orf65 SPG11 SELENOI MYORG RNASEH1 ALG13 POMGNT1 SPG7 POMT1 CYP2U1 CHMP2B POMK ZFYVE27 SLC25A15 DNMT1 MECP2 IL23R GRIA3 ERCC3 PLAA ERAP1 TRMT5 ATP13A2 SLC25A46 NOP56 ERLIN2 ADAR IQSEC2 DKK1 IFIH1 PLA2G6 MSH6 PMS1 ATN1 SLC12A5 DNM1L OPA3 ZNF41 SLC19A3 RRM2B GALC HLA-B HSPD1 TARS1 ZNF711 EEF2 POMT2 LMNB1 ASPA ATXN7 FBXO7 PRKRA SPART SYP MT-ATP6 NDUFS1 GDI1 RNASEH2C FUS SLC9A7 CCT5 PYCR2 SNCA RPS20 SIGMAR1 ALDH3A2 PIGT NIPA1 TIMM8A ATL1 EIF2S3 DNAJC3 SCN1B SNORD118 GJB1 HADHB PEX10 RTN2 CWF19L1 MED12 AFG3L2 ABCB7 FKRP GRM1 RTTN ATXN10 AIFM1 GBA2 DDHD1 PDGFB PRICKLE1 PMS2 FTSJ1 POLR3A UBTF UPF3B PARS2 HADHA VPS13D COQ8A GTF2H5 HCFC1 BSCL2 DMXL2 CAV1 B4GALNT1 PPP2R2B IBA57 MFN2 CXorf56 CTDP1 ZFR AP4M1 SAMHD1 PIK3R5 HTT SPAST NAGA GTF2E2 ACOX1 ADPRS MDH2 AP4S1 NFASC MAN2B1 HTRA1 CAPN1 TGFBR2 RUSC2 CYP27A1 FXN CNTNAP1 UGDH UBAC2 CNKSR2 EXT2 CYP7B1 TTBK2 SPG21 GAD1 SEMA4A SETX NDUFS4 DPYS KIF1C PCYT2 TLR4 PANK2 COA8 PIK3CA EPRS1 FAN1 CPT1C RNF170 TYROBP PTCHD1 ACSL4 TANGO2 AIMP1 IDUA SDHA BMPR1A DEGS1 POLR3B VWA3B USP27X GM2A TBK1 PGAP1 BRAT1 IL10 PSEN1 STAT4 ADGRG1 TMEM106B NEFH CACNA1A SOX10 AAAS AGTR2 SLC6A3 TSEN15 PAK3 CTSF VAMP1 DARS1 ERCC2 MLH1 SAMD9L FRMPD4 TH KCNA4 KRAS CHP1 PRPS1 DLG3 SLC20A2 ELOVL4 LARGE1 OPA1 DMD VCP TBC1D24 MT-TE MTFMT RNASEH2A NDUFA13 KCNA1 WWOX GRID2 ATXN1 USP9X SYNJ1 NDUFS7 MCOLN1 GBE1 ZNF81 DSTYK SLC16A2 FUCA1 HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER PYCR2 TRMT10A L2HGDH PPP1R15B PIGG HP_TYPE_II_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_LISSENCEPHALY POMK RXYLT1 B3GALNT2 POMT2 LARGE1 POMT1 FKTN B4GAT1 POMGNT1 FKRP GMPPB POMGNT2 LAMB1 CRPPA TUBB3 HP_CEREBRAL_DYSMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_DYSMYELINATION ADGRG1 PSAP ERCC3 TARS1 MPLKIP HSD17B4 MCOLN1 PHGDH ERCC2 SOX10 PLP1 GTF2E2 GTF2H5 RNF113A HP_CHRONIC_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_AXONAL_NEUROPATHY COG8 SETX KCNJ10 B2M HSPB1 HP_SPINAL_MUSCULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_MUSCULAR_ATROPHY ASCC1 DYNC1H1 BICD2 TBCE TRIP4 KCNK9 ATP7A ASAH1 PLEKHG5 SMN1 SMN2 CHCHD10 EXOSC8 TK2 DNAJB2 VAPB FBXO38 UBA1 VRK1 MORC2 SIGMAR1 TRPV4 IGHMBP2 HP_ATYPICAL_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATYPICAL_ABSENCE_SEIZURE SCN9A GABRA1 EPM2A MAPK10 PCDH19 GABRG2 STXBP1 SRPX2 NHLRC1 SCN2A DNM1 SCN1B KCNT2 CHD2 GRIN2A GABRB3 CUX2 SCN1A HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION KCTD7 SDHB PSAP HEXB ARSA SDHD GLB1 SDHA SDHAF1 BSCL2 HP_DEVELOPMENTAL_STAGNATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_STAGNATION ST3GAL5 PHGDH VPS11 RARS1 ACAN GLB1 MCOLN1 NUP62 ACER3 ZNHIT3 KIF5A SCN1B HP_LIMB_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_FASCICULATIONS SMN2 HSPB1 HINT1 SMN1 VCP HP_POSTERIOR_FOSSA_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_FOSSA_CYST VSX1 POMT2 POMT1 FKTN CSPP1 ABAT GDF6 WASHC5 DPH1 FKRP FGFR2 LARGE1 HP_OROMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMOTOR_APRAXIA DDOST FOXP1 FOXP2 VPS11 TUBB2B HP_CNS_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_DEMYELINATION TRMT10A LRPPRC L2HGDH GALC PDCD1 PSAP PRPS1 ATXN2 EIF2B3 SUMF1 HLA-DRB1 EIF2B4 EIF2B5 ERCC6 CSF1R ADAT3 PEX19 INSR COX15 SURF1 MAT1A HTRA1 EIF2B2 ERCC8 PYCR2 MTTP ALDH3A2 PPP1R15B ASPA EIF2B1 PIGG SDHA GFAP BCS1L PDYN HLA-DQB1 ACOX1 COX10 RERE HP_EXTRAPYRAMIDAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_DYSKINESIA C9orf72 SLC2A1 DPYS TSEN2 TSEN54 ACAT1 HP_SHORT_STEPPED_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STEPPED_SHUFFLING_GAIT MAPT DNAJC6 GBA DCTN1 SYNJ1 TBP ADH1C COL2A1 PODXL ATXN8OS TRPV4 SNCAIP PRKAR1B NR4A2 GLUD2 ATXN2 HP_GENERALIZED_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_DYSTONIA JAM2 TH THAP1 GCH1 TUBB4A ACTB TIMM8A FA2H PANK2 HPCA SUOX HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY MT-CO2 ATP7B MT-ND6 MT-CO1 MT-TF MT-TW MT-TS2 MT-TQ MT-ND5 MT-TL1 MT-ND1 MT-ND4 MORC2 MT-TH MT-CO3 HP_IMPAIRED_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PAIN_SENSATION LIFR SHANK3 HK1 OPA1 HSPB1 ELP1 SNORD116-1 SCN11A PRPS1 FBN1 DDHD1 CHAMP1 NTRK1 HARS1 H19 NOTCH3 ZFHX2 DEAF1 SNRPN PWAR1 PWRN1 NDN ABCA1 SCN9A CCT5 NGF RAI1 KCNQ1OT1 IQSEC2 GRIA3 IGF2 NGLY1 MFN2 AIFM1 CDKL5 HERC2 TDP1 GJB1 NPAP1 MKRN3 MAGEL2 UBTF MPV17 CLTCL1 SNORD115-1 FLII HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES KIF14 CEP152 ASPM CEP63 NCAPD3 SASS6 RTTN TAF13 ANKLE2 CEP135 KNL1 PHC1 CENPJ WDR62 MCPH1 MFSD2A STIL CDK5RAP2 ARHGEF9 DHCR7 PYCR2 BRAF METTL5 VAC14 CIT RNU4ATAC FIG4 MAP11 CDK6 COPB2 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET SCN2A EPM2A RELN COQ2 GABRG2 PDSS2 NHLRC1 KCNMA1 SLC12A5 SRPX2 SLC22A5 GRIN2A MICAL1 PUS3 LGI1 HP_HYPERMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETRIC_SACCADES GDAP2 VPS13D TPP1 ANO10 XRCC1 ATXN1 GRM1 HP_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_MUSCLE_WEAKNESS BSCL2 PDK3 MYO9A BAP1 AP5Z1 DYSF ANO5 PNKP VAMP1 C12orf65 AGRN TERT SMO SNAP25 GBA2 DDHD1 FGD4 HARS1 LMNA FLI1 CACNA1S FHL1 PNPLA6 KIF1A EXTL3 SPG7 HSPD1 PIEZO2 HADHA WASHC5 SLC33A1 ZFYVE27 GMPPB MYH7 ZFYVE26 CAV1 NEFH TPM2 MYPN PIK3CA SCYL1 TRPV4 MFN2 TPM3 SPG11 HSPB3 ALDH18A1 SLC5A7 SMARCB1 IBA57 NUP62 AKT1 SPAST ABCD1 SLC25A1 HSPB1 PRNP SPG21 MAPT GALC GARS1 HK1 TCAP MT-ATP6 COL13A1 REEP1 ADAR ERLIN2 HSPB8 CHCHD10 SPART CHAT CAPN1 HINT1 AFG3L2 KIF5A SARDH DES CAPN3 MYH14 SLC18A3 GNE CYP7B1 DCTN1 MORC2 MME RTN2 PMP22 DDHD2 TTN KCNJ18 DGUOK PDGFB NIPA1 ATL1 FLNC NF1 SMARCE1 PLP1 TRAF7 PLEC ADSS1 TDP1 SYT2 SUFU SCO2 HADHB FAM126A FBXO38 NF2 CPT1C DSTYK GABRA3 HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM GABRA1 ZEB2 OSTM1 PCDH19 RNU4ATAC CAMTA1 DNAL4 DCC NDE1 NEK1 NTN1 RAD51 SCN1A SCN9A CARS2 CPA6 STXBP1 FGFR2 NR2F1 SCN2A ABCA7 GABRG2 SCN1B TUBB3 SLC35A2 HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD DNAJC3 FXN PNPLA6 TWNK ALDH18A1 SPG7 CCT5 LMNB1 POLG CYP7B1 FA2H MORC2 HP_HYPERREFLEXIA_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA_IN_UPPER_LIMBS VPS37A HSPD1 ALDH18A1 ATP13A2 SDHAF1 REEP1 SPAST RTN2 SDHB ERLIN2 CAPN1 SDHD KIF5A SDHA HP_UPPER_LIMB_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_POSTURAL_TREMOR CARS2 CACNA1G PMP22 ITPR1 ANO3 MPZ TUBB4A COL6A3 HP_CEREBELLAR_CALCIFICATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CALCIFICATIONS JAM2 PDGFRB ERCC6 PDGFB SLC20A2 HP_AMYOTROPHIC_LATERAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYOTROPHIC_LATERAL_SCLEROSIS ALS2 PFN1 ANXA11 NEFH MATR3 OPTN HNRNPA1 SQSTM1 TRPM7 DAO FUS SPG11 PSEN1 CHMP2B ANG C9orf72 GLT8D1 VAPB CFAP410 UNC13A TARDBP DCTN1 TBK1 TUBA4A PON2 VCP PON1 TREM2 PRPH PPARGC1A SOD1 SETX FIG4 ERBB4 UBQLN2 TAF15 MAPT EPHA4 ATXN2 SIGMAR1 GLE1 CHCHD10 KIF5A PON3 NEK1 HNRNPA2B1 CCNF HP_FOCAL_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_ONSET_SEIZURE GNB1 SMS SCN2A VPS11 CAMTA1 TMEM231 ADRA2B LMAN2L TSC2 STXBP1 CHRNA4 CRADD NGLY1 POLG SCN8A POLR3A MT-TF GABRG2 LINS1 SCN1A PNPLA8 CHD2 TBC1D24 ADGRV1 GLI3 TUBB3 TSC1 VAMP2 PRRT2 STX1B EPM2A TBCK CDKL5 PIK3CA SCN9A MT-ND1 MT-ND4 SLC45A1 ARFGEF2 PHGDH RELN COQ2 GAL GABRD MT-TQ AKT1 SDHB FMN2 CLN8 SLC25A22 ZC3H14 CLIP1 GABRA1 CASK MTOR PIGQ AP4S1 MARCHF6 FLNA PDSS2 DCPS TMTC3 MT-CO3 STRADA GRIN2A KCNT1 PIGC FBXO31 MBOAT7 MED25 SARS1 LAMA2 CUX2 TRAPPC9 SZT2 CC2D1A PDGFB MT-TS2 KCTD7 TLR3 MED23 TRAF3 PUS3 TRIM8 TRAF7 PCYT2 C12orf4 SUFU SCN1B NHLRC1 ARX NEDD4L SRPX2 CTNND2 EZR SLC12A3 MT-TH SDHD NF2 HACE1 GAMT TANGO2 NSUN2 TNIK RARS1 BAP1 DMXL2 TICAM1 SDHAF1 TERT SMO DNM1 SDHA GRIK2 FIG4 ARHGEF9 EXTL3 CLCNKB BRAT1 POGZ LGI1 KCNA1 KCNQ3 PIGP CYP26C1 FRRS1L HCN1 PRSS12 KDM5B CNTN2 ACSF3 CARS2 SMARCB1 MT-CO1 CRIPT PGAP1 ATXN10 MT-TW SLC12A5 GNAO1 MAN1B1 MT-ND5 RSRC1 MICAL1 PLCB1 ST3GAL3 IQSEC1 SYN1 CNTNAP2 UNC93B1 MT-ND6 TBK1 PCDH19 PACS1 PNKP KCNMA1 B3GALNT2 NDST1 DOCK7 SLC22A5 HNMT SIK1 METTL23 WASHC4 YEATS2 ARF1 TUSC3 FA2H GABRB3 AIMP1 TUBB2B SAMD12 ERMARD MT-CO2 RPL10 SLC13A5 CLCN4 DYNC1H1 EDC3 CRBN NEUROD2 SMARCE1 TECR PYCR2 CACNA1D MAPK10 KCNQ2 MAP1B MT-TL1 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM OXR1 SNX14 ACD ASNS DHCR7 CAMTA1 THOC2 SOX3 PHGDH MARS2 RTTN PRRX1 SMARCC2 FRMD4A POMT1 B4GAT1 TERT IFT80 MYMK CTNNA2 RAB3GAP1 FKRP DMXL2 FGFR2 MAPK8IP3 MYO5A SMARCD1 POLR3A SASS6 LARGE1 POLA1 CSF1R RPS6KA3 COASY SIX3 DPM2 HERC1 GMPPB KIF7 NIPBL GLI3 TUBB3 KIF14 ERCC1 CHMP1A CENPE CACNA1G POMGNT2 WDR35 FKTN ZNF592 SOX11 ATP2B3 MYO7A PIEZO2 MT-TE SEMA3E USH2A HRAS WDR26 TUBGCP4 PAFAH1B1 PIGG CHD7 ABAT TRIP13 HDAC6 GJA1 CC2D2A USH1C MT-TK TP53RK CDK5 NAGA PI4KA WHRN RARS2 FIG4 SMC3 SLC25A1 PLK4 USP18 TRMT10A POMK GPSM2 CEP120 TSEN2 GPAA1 TMEM67 GJB2 DHFR PDZD7 OTX2 OCLN ATCAY MLXIPL POMGNT1 CDKL5 RBBP8 PIK3CA WDR60 SUFU TINF2 SMARCB1 AFG3L2 NRAS LETM1 MECP2 PCLO RAD21 BUB3 COQ4 CASK WNT1 GABBR2 RPGRIP1L MBTPS2 PIGA KIAA0586 VRK1 TSEN54 ERCC5 LAMB1 FGFR1 YME1L1 BRF1 KRAS ATP6V0A2 ASPM PROKR2 VHL TAF1 GJB6 CENPF SMARCA4 NDP NTNG1 TOE1 C2CD3 SOX2 SAMD9L POMT2 CDH23 CWF19L1 IER3IP1 PCDH15 HSD17B4 STUB1 RHOBTB2 SMC1A USH1G PMM2 NONO ADGRV1 TRAPPC9 TUBB2B DPF2 ARID1B GPKOW RBM10 MSTO1 VLDLR RPL10 RAC1 CEP104 CEP57 ATP6V1A INPP5K SIL1 COL3A1 INPP5E ATG5 MACF1 SLC9A6 TWIST1 ERCC6 BICD2 RTEL1 PPP1R15B B3GALNT2 STXBP1 MUSK RNF113A ROGDI OPHN1 PMPCA RORA ERCC2 AP1S2 HESX1 NDUFA6 SLC25A19 COL4A1 CRPPA PTF1A ADGRG1 ROBO3 L1CAM ERF DISC1 DKC1 TUBB MGME1 FLNA NFIX TBCK TKFC VPS13B CEP55 NELFA ATP5F1A RXYLT1 STAG2 CDC42 TMEM107 PLG WDR34 ARSI FGFR3 BUB1B MAST1 WASHC5 SETD5 JAM3 EPG5 ITPR1 CCDC22 PACS1 SOX4 NSD2 TUBGCP6 ARNT2 ATXN2 MKS1 FLVCR2 ALMS1 CARS2 ZBTB11 ELN MT-TL1 SLC1A3 SON TCTN2 SLC25A24 SMARCE1 AHCY PPP2R1A GPX4 DAG1 CIB2 NDE1 MAP2K2 ARID1A ERMARD DYNC2H1 DHX37 RBM8A RELN KIAA1109 TERC VAC14 BUB1 ESPN KMT2A PIGT WDR73 ATP6V1E1 CSPP1 TSEN34 GPHN USP9X DYNC1H1 ARID2 SLC35A2 PARN PGAP1 BMP4 PSAT1 KIAA0556 MAN1B1 TAPT1 DOCK6 L2HGDH MAB21L1 HDAC8 MFSD2A EOMES CIT WDR81 HP_ABNORMALITY_OF_THE_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PONS SNX14 EPG5 ASNS GALC TRAPPC12 TMEM216 ATXN2 POMT2 RTTN DOCK7 LARGE1 AHCY PPP2R1A ZIC1 FKRP INPP5E FLI1 PCLO POMGNT1 RELN TMEM67 WNT1 POMT1 SACS PIGA GMPPB KIAA0586 VRK1 TSEN54 POGZ RERE TUBB2B POMK UBE2A BRF1 STUB1 CSPP1 ADGRG1 ROBO3 GPHN B3GALNT2 ARHGEF2 AHI1 CEP290 TOE1 NPHP1 LAMA1 ATXN8OS MAB21L1 PMM2 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRUM VPS11 CTBP1 SLC1A4 SLC12A6 THOC2 PHF6 PIGH MCPH1 MICOS13 NHEJ1 SYNJ1 CDK6 INSR FRMD4A KCNAB2 XPA FGFR3 RAB3GAP1 RNASEH2C ERCC3 CLP1 UBE3B STIL PLPBP UPF3B SIX3 MOGS NDUFV2 TMEM138 CHMP1A NSD1 PUS7 SCN8A CACNA1G HCCS TERT RAB3GAP2 WDR35 CC2D2A WWOX NR5A1 RAD50 NDUFS3 AUH NUP133 EMG1 B9D1 KCNK4 CCDC174 HNMT OGT ZC3H14 ATP6AP2 CEP57 MRPS16 XRCC4 CAMK2B ESS2 BMP15 PIEZO2 BCOR KIT ESCO2 TCTN2 SLX4 FGFR1 MECP2 DHFR OCLN POMGNT1 SUFU CHRNG ALDH18A1 KMT2D TREX1 SERAC1 NFIX BUB3 DDX3X NALCN ARL3 ATRX PLP1 FANCI FA2H PEX7 BRF1 DDHD2 FBXO11 FAR1 RAB18 PHGDH WDR45B TBC1D20 FBXL3 TOE1 PHC1 FGF8 SALL4 EBP NEXMIF MICU1 EEF1A2 CLPB UFD1 LETM1 NUP107 NDUFAF3 TDGF1 KIAA0586 ZFYVE26 TMEM126B HACE1 RAC1 RARS1 FANCE KIF2A SLC9A6 EP300 CLTC LFNG ALX3 ALG13 KIF14 ANKRD11 EXTL3 DEAF1 ITPA SIN3A HESX1 WDPCP HCN1 FKTN PLK4 ACTG2 PIGP CRPPA DACT1 NCAPD3 TSEN54 EFTUD2 FRRS1L DCHS1 UBA5 ITGA3 NDUFV1 CEP135 L1CAM PDHX ATP6V0A2 NANS GNAO1 ADAR BCR CEP41 MRPS34 RBM28 IFIH1 CARS2 CRIPT PGAP1 STT3A STAG2 CREBBP ERCC2 OTUD6B DIAPH1 UGP2 DNAJC21 PARS2 IQSEC1 MT-ND6 VPS53 TMCO1 NSD2 TRAPPC12 FANCG HMGCL MAD2L2 DCC MED12 ARSL ERCC4 PPP2R1A CHAMP1 RTEL1 VPS13B NODAL POMT1 GJA8 TANGO2 DYNC2H1 KCNA1 PRDX1 PEX13 SMARCE1 DGCR2 KIAA1109 NAA10 NDUFB3 USP7 BDNF HUWE1 ARX RFWD3 BRAT1 PIGN RPL10 BLM SHH TRAIP PSMC3IP TUBB CDC45 XYLT1 TCF4 HIVEP2 CYB5R3 FAT4 ERCC5 NUS1 TAPT1 DLL1 QARS1 GDF1 NR2F1 CWF19L1 CDC6 DNMT3A BRCA2 PALB2 NDUFS7 POU1F1 PDE6D PAH DNM1 SOX4 ASNS NSDHL EIF2B3 MYO18B RTTN SC5D STXBP1 GBA2 EIF2AK3 FKRP MAPK8IP3 LTC4S SMARCD1 HES7 NUP188 POLA1 UBTF MT-TF RPS6KA3 CDK5RAP2 NAT8L MT-ND3 ZNF335 QRICH1 AMER1 ISCA1 SPATA5 TUBB3 PRDM16 VAMP2 MRPS22 DYM TBCK PROP1 GMNN IFT52 ARHGAP31 HNRNPU SPG11 MBTPS2 COG4 RREB1 IFT140 AP4M1 STT3B TUBGCP4 COG6 SCN2A RFT1 TMEM216 ALG12 ACTB GLI3 USP18 MSH2 HTRA2 PEX19 NDUFS1 TRMT10A POMK NID1 IGF1 DONSON PPT1 KIF5A RAD51 TARS2 WDR60 SMARCB1 SP110 PPP2R3C VPS37A NUP37 CNTNAP1 MMACHC TMEM165 DISP1 GNPAT LRP2 ADAT3 ASPM COG2 CYFIP2 EIF2B5 CENPF DOCK7 SOX2 SAMD9L MKS1 TRAPPC2L C12orf4 EARS2 ZDHHC9 TBX4 UBR1 GP1BB RHOBTB2 EPRS1 MIPEP MVK ERCC1 MAP11 ENTPD1 GLYCTK CERT1 TET3 PGAP2 ATN1 SLC6A8 CEP152 PEX11B PCNT LIG4 ERCC6 ALG3 CENPJ POLR3B EXT2 SMC3 VWA3B SLC2A1 SCN3A EPG5 KYNU PIK3R2 FREM1 FMN2 BCL11A WDR26 BRAF CRKL FAM20C AP4S1 CDK13 TMEM106B TBCE DISC1 SNAP29 RPS23 DKC1 RLIM KIF1C RAD51C PUS3 ACSF3 NDUFS4 IBA57 VANGL2 GLI2 CDC42 TMEM67 TBX1 TBL1XR1 CD96 GMPPB DPH1 MPC1 SETD5 TUBB2A KCNA4 BMP4 PRPS1 KIF11 POGZ TINF2 MGAT2 PPP2CA KCNT2 KDM5C KDSR DHCR24 DHX37 SLC35A3 TBC1D24 FOXRED1 TRAPPC4 MTFMT CDK10 COPB2 NDUFB9 AHDC1 RNASEH2A UPB1 POLR1C FUZ C12orf65 NDUFB11 SLC25A19 AHI1 ZSWIM6 TMX2 KIF7 CUL4B ANKLE2 BUB1B RAI1 AMT MAB21L1 EXOSC8 RNASET2 GTF2E2 KDM6A OSGEP NCAPD2 NUBPL TMEM231 LIMK1 SOX3 PRRX1 EIF2B4 PAFAH1B1 NARS2 NTN1 KIFBP AFF4 FSHR MAPRE2 SLC6A9 SPTAN1 ELN NADK2 DPM2 CEP55 ATR KMT2B FGFRL1 FUT8 DPYD ORC6 WDR4 ADD3 CDKL5 ALG11 ACY1 PAX6 CHRNA7 ZNF592 TRAK1 XPC KANSL1 KNL1 ERCC8 AP4E1 SHOC2 HRAS HMGA2 MT-TQ RARS2 GABRA2 KMT2A GJA1 GPSM2 TBCD MYMK ZC4H2 MYSM1 CTCF TOP3A UFC1 OTX2 NDUFB10 FRAS1 NRAS NTNG2 SKI AGGF1 AKT3 RPGRIP1L MBOAT7 RERE MAPK1 MASP1 EXT1 CTU2 AGTR1 TRAPPC6B HNRNPH2 XPR1 CPLANE1 KAT6A C2CD3 STAMBP LEMD3 DPP6 ASXL3 TECPR2 CSPP1 MT-TH NAGS CACNA1A TMEM237 DARS2 PEX14 GPT2 AP5Z1 DMXL2 INPP5K TUBA1A GTPBP2 KCNQ2 SGPL1 MOCS2 CEP120 BICD2 ZNHIT3 GABRB2 ARNT2 NDUFAF5 FRMPD4 LNPK NECAP1 ALG1 VANGL1 PRSS12 MGME1 AP4B1 CHKB NELFA RXYLT1 MT-CO1 SLC39A14 GJB4 NSUN2 SLC12A5 DNM1L WT1 GJB3 TRRAP RAB11B RSRC1 ARSI ST3GAL3 BRCA1 EMC1 PYCR1 DPM1 ZEB2 HOXD13 SLC35A1 CNNM2 PTS KCNA2 TARS1 SASS6 FLVCR2 SYNGAP1 SON SLC25A24 ALX4 AHCY COX15 TUBGCP6 NDE1 RBPJ LHX4 EFNB1 BNC1 MSH6 PMS2 EFEMP2 BUB1 DAG1 MT-CO2 MYH3 USP9X HDAC4 SPECC1L DOLK IARS1 PYCR2 ARFGEF2 DOCK6 PEX2 SATB2 MFSD2A ACO2 IGF1R RSPRY1 ATP6V1A G6PC3 KAT6B DHTKD1 CRADD IFT80 LSS ACTL6B MLH1 IFT74 CSF1R LINS1 COX7B COG8 CENPE HSPG2 AUTS2 TUFM ZNF148 HIBCH SEMA3E FANCF NTRK2 CHD7 MESP2 HYLS1 GABRB1 ZIC2 CTNNB1 MYORG GLS SUCLA2 MCM4 HDAC8 NIPBL YY1 ASXL1 DCPS KIAA0556 PTRH2 ANK1 KIAA0753 RUSC2 WDR81 GRIN2A PIGC ABCC8 GABBR2 APC2 PIGA FBLN5 AIFM1 TPRKB MCM5 POLR3A MORC2 TP53 ATP13A2 SPG21 PMPCB GAD1 PTDSS1 FOXE3 AMPD2 PROKR2 WAC NIN TRIM8 ATL1 POMT2 SF3B4 REPS1 PNPO LARP7 IER3IP1 THOC6 QDPR ZNF423 DPF2 SAMHD1 TYROBP AIMP1 MBD5 CCDC88A INPP5E LMX1B PSPH WDR62 GJC2 PPP1R15B ARHGEF9 DHCR7 B9D2 ZBTB16 IGBP1 RNF168 PTF1A PCDH12 SPIDR EHMT1 ACER3 TRIM36 PQBP1 FOXG1 GRIA4 NDUFA2 VIPAS39 CEP290 ORC4 GRIP1 KDM1A TRAPPC9 FOXA2 WDR73 EBF3 MPDU1 PACS1 TP53RK ERCC6L2 GOT2 KRAS SET NDUFAF1 PPP3CA FBXL4 TRIO METTL23 MAP2K2 ERMARD RELN VAC14 NOP10 PUS1 SLC35A2 B3GALNT2 NBN PEX3 CDT1 PSAT1 ARF1 CIT JAM2 AP3B1 HBA2 TUBA8 POLR1A HAAO LMAN2L NKX6-2 SLC13A5 B4GAT1 ARID1B GPC3 OSTM1 SACS BRIP1 DDX11 ADSL SLC1A2 MED25 SMO MTRR DNAL4 PEX1 REN MT-ND4 NCAPG2 ATP7A DGCR8 MTHFS ABAT TAF13 DYNC1I2 EGF RNF113A SETBP1 TFAP2A PTCH1 KCNH1 PIGQ RPGRIP1 DLD EDC3 CKAP2L GINS1 PEX10 CACNA1B PAX3 AGA SEPSECS RAD21 NEDD4L CASK FLCN EXOSC9 SLC25A20 FANCA KLHL7 DGCR6 PEX12 TRAPPC11 NDUFS6 CHUK RAB23 VARS1 GEMIN4 TCTN1 NDUFA11 ARHGEF2 TAF1 XRCC2 MPLKIP MED23 OFD1 NTNG1 CDON PDGFRB SSR4 BCAP31 SUZ12 ARL13B HSD17B4 KCNB1 PMM2 CEP104 GTF2IRD1 TUBB2B NDUFS8 FANCB LIAS ACSL4 GPKOW MIR17HG PIGY KCTD7 FANCM TUBB4A SELENOI WDFY3 GPC4 MACF1 RNF13 GRIN2B C12orf57 DIS3L2 TGFB1 SUMF1 DGUOK ARMC9 CYP2U1 CLIP2 COMT POR PEX5 SIL1 PLAA POLR3H MAFB NDUFS2 TAF2 PCGF2 KDM5B HIRA CPLX1 MAN1B1 LMBR1 WDR34 RNPC3 MT-CYB SIX6 DDB2 ERLIN2 GATA4 EIF2B1 KIDINS220 ELOVL4 CLPP SRPX2 FGF12 PIBF1 CILK1 ARID2 SLC35C1 CRBN HMGB3 EIF2S3 ALX1 PDHA1 FGFR2 DLAT ITGB6 MT-TL1 HSPD1 TRIT1 CCL2 RNU4ATAC GLUL TCTN3 NF1 RECQL4 NGLY1 PEX16 SARS1 POLG SNAI2 COASY PGAP3 HHAT GRIN1 TDP2 B3GLCT SALL1 KCNT1 MEF2C SLC18A2 NEUROD2 PUF60 POMGNT2 NHP2 MT-ND1 ATPAF2 PSAP SCN1A SLC45A1 SBF1 LAGE3 PIGG NACC1 DCX SLC25A1 PRKDC PDGFB ALG9 FANCC RNASEH2B SEMA5A COG1 NFASC UBE3A TBX15 IKBKG KCNJ11 TAT MED17 NHLRC2 KCNJ2 FANCD2 LARGE1 SPR HCFC1 CYP11A1 POLE GLDC CEP63 BAZ1B MT-TS2 AP1S2 PIGO SMOC1 TLK2 RBBP8 NONO ACTG1 GRIN2D EFL1 TNIK CDK8 ZIC1 YWHAE KIF15 ATRIP SLC30A10 ACADSB ZBTB20 NDUFA6 TAF6 SMC1A AAAS FH GBA TSEN15 SPART PRKD1 CTNND2 NDUFA1 DLL3 POC1A FLII JAM3 PNKP NDST1 GPX4 ALDH6A1 HIC1 GATA6 GABRD SLC20A2 SMARCA4 SLC25A22 TBXT ATP6V1E1 GABRA5 DPAGT1 PARN BPTF TXN2 SNRPB MCOLN1 SETD2 AARS1 RPS19 SCN1B DSTYK PHACTR1 SLC16A2 GLE1 NKX2-1 CCDC47 GJA5 FANCL DDX59 MT-ND2 COG7 CNKSR2 FOXH1 STAG1 PDYN PORCN DYRK1A UFM1 PCNA SOX11 ATP5F1A TRIP13 PEX6 KIF1A TELO2 EML1 DNA2 SNIP1 DENND5A SHANK3 CLIP1 SMARCA2 TMTC3 HSPA9 TSEN2 FLI1 LIPT2 TIMMDC1 NDUFAF8 GAS1 TMEM70 MT-CO3 MTHFR LDHD UNC80 MCTP2 AP3D1 LARS1 ARVCF FBXO31 GFM2 PRUNE1 TGIF1 HBA1 IQSEC2 VPS33B NDUFAF4 DHX30 VAX1 UBE2T COQ9 TBC1D23 RFC2 GABRG2 MEIS2 MSMO1 GORAB SZT2 LYRM7 MYCN JMJD1C ST3GAL5 GRIA3 ZBTB18 LRP5 GFER TTI2 AP3B2 YWHAG MT-ND5 NFIA ACD CDH11 ZBTB11 NDUFAF2 MFF ARID1A CSNK2A1 CPT2 TUSC3 KCNJ6 TRPS1 ALDH3A2 PIGS TSEN34 DHDDS CLCN4 NT5C2 GMPPA SEC24C TMEM107 FTO PRMT7 RB1 EOMES RSPO2 RIPPLY2 TRMT1 CTSD SMARCC2 EMX2 CTNNA2 ELAC2 SMG9 YARS2 VPS13D PLEKHG2 GTF2H5 ACE NPHP1 TUBG1 ZFR ADNP LONP1 PEX26 CNOT1 CDK5 P4HTM VARS2 RIPK4 FIG4 AGTPBP1 GCSH LINGO1 MDH2 AIMP2 FARSB FREM2 KIF5C PCLO FARS2 CYB5A NEK9 UGDH ORC1 AGT NCAPH YME1L1 CHN1 EXOSC3 CC2D1A NSMCE2 KMT2C NDP EIF2B2 MOCS1 EZR SHROOM4 RMND1 KATNB1 MAF WNT3 FAM149B1 GRIK2 GTF2I MID1 LAS1L DEGS1 NUP214 METTL5 COG5 COL4A1 POLG2 STAC3 CYP26C1 TBX6 ARV1 TMEM260 CDCA7 MT-TW DARS1 BRPF1 ARCN1 GLRX5 ADAMTSL1 SCYL2 SIM1 ABCA2 GFM1 PAK3 SIK1 WASHC4 TBL2 AHSG TUBGCP2 DYNC1H1 FBN1 TECR SMAD4 HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM CACNA1G DNAJC3 DNMT1 COG8 TRAPPC6B TBCD TBP DNAJC19 COG5 ZNHIT3 DEGS1 FARS2 SPTAN1 KIF1A TWNK DNM1L TRRAP FA2H RARS2 ATXN1 OPA1 SLC35A2 HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM CAMTA1 SLC1A4 GLB1 LMAN2L CLN6 KIF7 NKX6-2 FMR1 KCNAB2 TOMM40 GBA SLC13A5 SCN8A RAB3GAP1 CLP1 NDUFV1 OSTM1 PLPBP PON1 SACS TBP MOGS TPI1 ATRX NDUFV2 ADSL MAPT WASHC5 SLC1A2 MED25 TRAK1 MTRR RNASEH2A TERT RAB3GAP2 CHMP2B WWOX NFIX MT-ND4 NR4A2 ALDH7A1 VPS13A NUP62 SIGMAR1 GIGYF2 WDR45 USH1C DYNC1I2 HRAS NEK1 RNF113A SETBP1 ZC3H14 SLC35A2 L2HGDH ANXA11 PIGQ UCHL1 PCCA DHFR CACNA1B C9orf72 UNC13A ALDH18A1 TRAPPC12 KMT2D TIMM50 BRAF MAG TREX1 AGA SEPSECS RAD21 SERAC1 EXOSC9 SLC39A8 GABRG2 VRK1 SQSTM1 KLHL7 WFS1 SLC39A14 FA2H IGHMBP2 PEX7 TRAPPC9 RAB23 VARS1 RAB18 NDUFA11 ERBB4 TBC1D20 TPP1 MPLKIP MED23 GMPPB NTNG1 MFSD8 TRAPPC11 PSEN2 BCAP31 DGUOK ACTL6B SCN1B HSD17B4 EEF1A2 KCNB1 USH1G UBQLN2 GTF2IRD1 CLPB LIAS HNRNPA2B1 NPC1 GPKOW CCNF SLC2A3 HACE1 TARDBP DNMT1 NDUFS2 RARS1 KCTD7 PLA2G6 TTC19 CLN5 POLG ERCC6 SPG11 MTR TK2 SLC9A6 SNCAIP LRRK2 MUC1 CLTC TGFB1 ALG13 SPG7 ITPA TREM2 GALC CLIP2 COG6 ERCC2 AP1S2 PLK4 PIGP SOD1 ERCC3 PLAA FRRS1L TRMT5 UBA5 TAF2 KDM5B NANS DMPK GNAO1 ADAR TBCK PCK1 FIG4 VCP IFIH1 CARS2 RNF125 DNAJC5 PGAP1 DOLK CEP126 MAN1B1 UGP2 PARS2 RBM28 IQSEC1 IRF2BPL MT-ND6 TBC1D24 VPS53 TMCO1 LMNB1 COL18A1 DDB2 APP ATXN7 ERCC4 PSEN1 BCS1L SCN9A NDUFS1 TANGO2 KCNA1 PRDX1 KIDINS220 FUS CCT5 ELOVL4 SMN1 NAA10 HECW2 KMT2A HUWE1 PIGT FGF12 NDUFAF3 SHH PSAP SCN2A SLC35C1 TIMM8A CRBN GDAP2 HIVEP2 CYB5R3 EIF4G1 PDHA1 NUS1 KCNA2 QARS1 ATP6AP2 MMADHC DNM1L RTN2 MT-TL1 HDAC8 SLC33A1 TRIT1 ASAH1 DCTN1 DNM1 GLUL CHCHD10 RTTN SCN3A DAO STXBP1 NDUFB8 AIFM1 GBA2 NGLY1 MAPK8IP3 POLA1 UBTF MT-TF ERCC5 RPS6KA3 GRIN1 ZNF335 PIGL ATXN8OS B3GLCT KCNT1 PRDM16 ERCC1 MEF2C HNRNPA1 NEUROD2 B4GALNT1 PUF60 PPP2R2B MT-ND1 COG4 SCN1A SLC45A1 SBF1 AP4M1 CAD GRID2 LAGE3 HNF1B NAXD GLE1 TUBGCP4 PIGG NACC1 RFT1 SPAST ABCD1 SLC2A1 PRKDC HTRA2 ADPRS ALG9 GABRA1 COASY RNASEH2B COG1 UBE3A MAN2B1 PPT1 RNF216 MARS2 MED17 MYO7A MECP2 FXN NHLRC2 MMACHC MBTPS2 TMEM106B ABCA7 IKBKG SLC39A4 ADAT3 TWNK COG2 FGFR3 BAZ1B SETX MT-TS2 PAFAH1B1 CYFIP2 VPS35 TOE1 ATXN3 HTT TRAPPC2L PCYT2 C12orf4 PCDH15 ARX RHOBTB2 GRN ACTG1 GRIN2D EPRS1 MVK CASK TYROBP CPT1C GLYCTK TNIK PGAP2 ATN1 BSCL2 SLC17A5 ALG3 YWHAE POLR3B TBK1 RTEL1 MAP2K2 FMN2 ROGDI BRAT1 CACNA1E ZNHIT3 ZBTB20 PRKAR1B AP4S1 PIGV MT-ATP6 DKC1 ALS2 FH KIF1C KANK1 PUS3 TSEN15 PRNP CDC42 ALG1 FOLR1 TBL1XR1 SLC25A15 SETD5 OTUD6B PNKP ATXN2 B3GALNT2 NDST1 DOCK7 POGZ NDUFA9 CNTNAP2 ACY1 OPTN HIC1 GABRD ADK TBCD COLGALT1 TRAPPC4 SLC25A22 WDR73 SUMF1 GABRA5 PARN TMX2 IARS2 PLP1 SYNJ1 GM2A TXN2 TDP1 EXOSC8 AARS1 UBA1 PHACTR1 OSGEP PFN1 CCDC47 HEPACAM DNAJC13 LIMK1 SUCLA2 NARS2 MYO5A NOTCH3 COG7 SPTAN1 ELN CNKSR2 STAG1 AARS2 VPS13C PCCB PDYN CPLX1 PRPH GNAQ ADGRV1 PPARGC1A DPYD TRNT1 C19orf12 DYRK1A UFM1 PCNA ZNF592 XPC VAPB PPP3CA ERCC8 AP4E1 KIF1A USH2A HSD17B10 MT-TQ FADD COQ2 RARS2 GABRA2 SCO2 CLIP1 CACNA1G SRCAP VPS33A ZC4H2 TSEN2 TRPM7 FLI1 LIPT2 GJC2 FKRP TMEM70 MT-CO3 DNAJC6 FTL NTNG2 NADK2 UNC80 TUBA4A AP3D1 PIGN FBXO31 PNPLA6 PRUNE1 ATXN1 MBOAT7 SKI TRAPPC6B CISD2 APOE PODXL DHX30 CNTNAP1 STAMBP HERC1 CLN3 MAF COQ9 SMC1A TECPR2 MT-TH CACNA1A DARS2 RFC2 DMXL2 KCNQ2 MOCS2 BICD2 FRMPD4 NECAP1 DSE KCNMA1 SZT2 LYRM7 OPHN1 FBLN1 FUCA1 ST3GAL5 NEFH SUCLG1 PRSS12 GUF1 AP4B1 AP3B2 EPM2A YWHAG MT-CO1 IDS SLC12A5 TRRAP MT-ND5 RSRC1 JPH3 KIF5A ST3GAL3 ACD EMC1 IDUA EPG5 EHMT1 PCDH19 TARS1 PDE8B OCLN TUBGCP6 CFAP410 TCTN3 RNASEH2C PYCR2 CDKL5 TUSC3 AIMP1 MT-CO2 PIGS DHDDS GPHN CLCN4 USP9X EDC3 NIPA1 SPECC1L CTNS DNAJC3 BMP4 EPHA4 HCN1 DOCK6 SON TPRKB SYNGAP1 OPA1 ACO2 ATP13A2 CTSD ATP6V1A FGFR1 EMX2 PEX19 ADH1C CRADD SMN2 POLR3A ALG11 CSF1R ASPA PON2 LINS1 SMG9 SURF1 LHX1 WIPI2 NIPBL NAGA GTF2H5 COG8 MATR3 PANK2 CTDP1 WARS2 ATP8A2 AUH SERPINI1 ADNP NTRK2 SAMHD1 SNX14 TP53RK PON3 WHRN SMC3 GTF2E2 NALCN SIX3 CIZ1 AIMP2 FARSB RERE DCPS NRXN1 CLN8 PDZD7 KRAS GLT8D1 WDR81 GRIN2A CYP27A1 PCLO FARS2 PIGC CYB5A TRAF7 GABBR2 PIGA CYP7B1 MORC2 SARS1 SPG21 YME1L1 MAP2K1 EXOSC3 CC2D1A AMPD2 TAF15 ABHD5 NDP COG5 TRIM8 ASXL1 ATL1 POMT2 MOCS1 REPS1 PNPO CDH23 FOXP2 SHPK EZR RMND1 NSUN2 SNCA SC5D GRIK2 GTF2I XPA SORL1 PSPH DEGS1 NUP214 ATAD1 IBA57 NHLRC1 TSEN54 ARV1 ACER3 PQBP1 GRIA4 CTSF NDUFA2 MT-TW SCYL2 ABCD4 MPDU1 NEXMIF GOT2 CPLANE1 FBXL4 GFM1 GABRB2 HNMT ANG DNAJC19 SIK1 METTL23 WASHC4 STX1B TBL2 NAXE CIB2 VAC14 ESPN PEX16 STUB1 LYST NBN NDE1 TFG TECR POMT1 BTD KDM6A SPATA5 ACTB TINF2 GUSB GLUD2 LARGE1 HP_CORPUS_CALLOSUM_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORPUS_CALLOSUM_ATROPHY STUB1 L2HGDH MAG AIMP1 DNM1L HSD17B4 LMNB1 ALDH18A1 FA2H CACNA1E EMC1 PEX16 GBA2 OPA1 ATP8A2 BCAP31 IRF2BPL HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS TARDBP LIMK1 NEFH RFC2 CHCHD10 MT-ATP6 BAZ1B NIPA1 SPG7 SPG11 GTF2I PLP1 ATL1 SOD1 TBL2 TBK1 ELN WASHC5 RTN2 SPAST GTF2IRD1 CLIP2 SQSTM1 VCP PRPH SLC33A1 CPT1C FUS C9orf72 DCTN1 HP_MOTOR_NEURON_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_NEURON_ATROPHY ALS2 PFN1 ANXA11 NEFH MATR3 OPTN HNRNPA1 CPLANE1 SQSTM1 TRPM7 DAO FUS SPG11 PSEN1 CHMP2B ANG C9orf72 GLT8D1 VAPB SMN1 CFAP410 UNC13A TARDBP DCTN1 SMN2 TBK1 TUBA4A PON2 VCP PON1 TREM2 VRK1 PRPH PPARGC1A IGHMBP2 SOD1 SETX FIG4 ERBB4 UBQLN2 TAF15 TFG ASAH1 MAPT EPHA4 ATXN2 ATXN3 SIGMAR1 CEP126 GLE1 CHCHD10 UBA1 RBM28 KIF5A PON3 NEK1 HNRNPA2B1 CCNF HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS HTT TYROBP ADAR VPS13A JPH3 NUP62 FOXP2 BSCL2 MT-ATP6 TIMM8A HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM RSPO2 NSUN2 NKX2-1 TNIK WNT3 CTBP1 SOX3 PROP1 LMAN2L KRAS FGFR1 POU1F1 LHX4 CRADD GRIK2 PPP2R5D DHCR24 GPR161 LARGE1 HESX1 NSD2 FMN2 L1CAM HYLS1 LINS1 MUSK FKRP FGFR2 COX7B MED25 COL4A1 CRPPA NSD1 FGFRL1 POMGNT2 FRRS1L HCCS PRSS12 PCGF2 KDM5B SLC45A1 RNF125 RXYLT1 GLI2 PGAP1 CPLX1 MAN1B1 LHX3 FOXA2 RSRC1 ST3GAL3 IQSEC1 DYNC1I2 EZH2 ZC3H14 CLIP1 EHMT1 POMK PACS1 PIK3CA PROKR2 ARNT2 PIEZO2 B3GALNT2 NDST1 DCPS HNMT METTL23 DAG1 WASHC4 OTX2 PIGC RBM8A POMGNT1 FBXO31 MBTPS2 PIGA TUSC3 POMT2 B4GAT1 KIAA0586 SARS1 KIF7 AIMP1 TUBB2B FANCI SSR4 MBOAT7 CSPP1 TRAPPC9 PTDSS1 FKTN PHGDH CC2D1A WDR11 EDC3 TAF1 CRBN SPECC1L MED23 SOX2 PSAT1 TECR NDUFB11 C12orf4 CDON POMT1 EZR ROBO1 LETM1 HP_ABNORMALITY_OF_THE_CHOROID_PLEXUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHOROID_PLEXUS TP53 ZSWIM6 NPHP3 PHGDH GNAS CTSC SMARCB1 NRAS FH SETBP1 HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS YEATS2 EPM2A CYP27A1 GJC2 MARCHF6 STARD7 NHLRC1 TIMM8A TBC1D24 MORC2 SAMD12 ATXN1 HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT CHEK2 EPCAM DOCK8 PIK3CA SDHB KIT MINPP1 SDHD MET PDX1 PSAP NAB2 KEAP1 HNF1A APC SLC25A13 STK11 PDGFRA SPRTN PMS2 RAD51C KLF11 GPC3 SETBP1 IGF2R TREX1 CASP10 ATRX RELA TJP2 GPR35 AURKA CD81 PTEN CDKN1B AXIN2 TTC37 DLC1 CTNNB1 SDHC TP53 HABP2 HFE BRIP1 BMPR1A AKT1 ACVRL1 MLH3 PTCH1 CD19 FAH MSH2 MSH3 FLCN ABCB11 PIEZO2 BLK AXIN1 TRIP13 WWOX TNFRSF13B PALLD CC2D2A TCF4 SEC23B CDKN2A EDN3 ERBB2 BRCA2 SERPINA1 NBN INS MEN1 CDH1 TNFRSF13C SH3KBP1 SLC37A4 FOXE1 MTOR RHBDF2 IL1RN MUTYH TMEM67 PALB2 MGMT GPC4 RAD51D WRN RAD21 ASCC1 KCNJ11 TGFBR2 KRAS FASLG SMAD4 SMPD1 POU6F2 MLH1 DAXX BUB3 RPGRIP1L FAS BUB1 PDGFRL MST1 SEMA4A NRAS UROD ARSA POLE TLR2 TRIM28 IL1B TERF2IP DICER1 POT1 F5 MDM2 WT1 TNPO3 SEMA3D IGF2 CDKN1A ABCC8 BAX COMP GDNF KLF6 CDKN2C FAN1 DLEC1 JAG1 SPIB ICOS CEP57 BAP1 PTPRJ CTHRC1 KLLN JAK2 POLD1 DCC TERT REST RAD50 INPP5E NFKB1 HBB RNF43 STAT1 EDNRB GDF2 ATP7B ACD MCC FGFR3 MS4A1 RASGRP1 CDK4 NTHL1 MRE11 BCL10 FGFR2 SKIV2L G6PC DIS3L2 POU2AF1 FH STAT6 NEUROD1 DMPK BRCA1 PMS1 MSH6 BARD1 ENG LMNA PTPN3 MITF BUB1B IL12A RAD51 PTPN12 AAGAB PLA2G2A APPL1 COL14A1 MC1R BMP2 PHKG2 RET GREM1 EP300 PAX4 AHCY ECE1 C11orf95 KCNQ1OT1 RAD54B IL12RB1 RNF6 HMBS PRKAR1A SEMA3C CEL PTCH2 HNF4A MMEL1 RPS20 CDKN1C USF3 TNFSF12 BLM NRTN PHKA2 H19 PYGL IRF1 IRF5 CR2 CDKN2B SDHA GNAS KCNQ1 NFKB2 CASP8 CCND1 ODC1 GCK PRKCD TNFSF15 MSR1 SRC SMAD7 RPS19 SUFU HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT DOCK8 WT1 PIK3CA CDC73 CTNNB1 MNX1 MINPP1 TSC2 STS NAB2 KEAP1 APC SDHB SDHAF2 VHL PTEN STK11 PMS2 RAD51C STAG3 EPCAM NF1 GPC3 SETBP1 MAP3K1 CHEK2 ZFPM2 RELA BRCA1 CDH1 WWOX FGFR2 H19 AURKA MSH6 RNASEL IDH2 HNF4A CDKN1B TSC1 NSD1 DLC1 TP53 HABP2 BRIP1 DHX37 AKT1 SDHD MLH3 PTCH1 MSH2 FGFR3 MSH3 TRIP13 FLCN SDHC FH HNF1B LMNA GPC4 PALLD CDKN2A BRCA2 NBN FIBP TRIM37 HRAS FOXE1 MRAP AR NTHL1 CCND1 DICER1 PALB2 RAD51D WRN TGFBR2 SRY KRAS SDHA SMAD4 MXI1 POU6F2 BUB3 APC2 NOD2 BUB1 PDGFRL AXIN2 BCL10 TFE3 DHH MET SEMA4A NRAS SLC25A11 EWSR1 TLR2 TRIM28 KLF6 TXNRD2 IGF2 GATA4 ALX4 BAX RB1 FAN1 STAR MLH1 CEP57 PTPRJ ZFHX3 EPHB2 KLLN OGG1 POLD1 DCC DLST REST RAD50 KIT IFNG BMPR1A FLI1 TBX18 BMPER MCC EP300 DIS3L2 MC2R VAMP7 MRE11 INHBA GNAS STAT6 POLE DMPK NNT PAX6 BARD1 SOX9 PMS1 CREBBP SEC23B TMEM127 ATP7A BUB1B FN1 RAD51 PTPN12 AAGAB MDH2 PLA2G2A RNF43 PHF21A IDH1 COL14A1 NR5A1 GREM1 EXT2 C11orf95 KCNQ1OT1 RAD54B HNF1A SLC6A17 RNF139 PRKAR1A BAP1 PRKN CXCR4 MAD1L1 MAX PTCH2 NR0B1 FERMT1 DMRT3 KIF1B RPS20 CDKN1C USF3 RET MITF HDAC4 KCNQ1 ODC1 OPCML SRC SETD2 WNT10A SUFU PRCC HP_FACIAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_TELANGIECTASIA ARX BLM SLC2A10 WNT10A POLE DAXX SDHD ATRX SLC29A3 GNPTAB SOX18 HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN BMS1 PLEC DLL4 LAMA3 COL7A1 LAMB3 LAMC2 ITGB4 HP_APLASIA_CUTIS_CONGENITA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP MSX2 BMS1 LETM1 FGFRL1 PLEC DLL4 CTBP1 NSD2 CPLX1 MCTP2 ITGB4 UBR1 ALX4 ARHGAP31 NELFA HP_EXCESSIVE_WRINKLED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLED_SKIN ZNF469 ATP6V1E1 ATP6V0A2 MAP2K1 PLOD1 TGM5 ATP6V1A TERT RIT1 DKC1 ENPP1 PARN FGFR2 RAF1 KRAS SMARCA2 TWIST2 COL3A1 BRAF RTEL1 MAP2K2 PTPN11 PIK3R1 CSTA PTEN ADAMTS2 PYCR1 C1R TBL1XR1 ACD TINF2 FGFR3 ABCC6 HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS ATP6V1E1 ATP6V0A2 ATP6V1A LMNA ZMPSTE24 AEBP1 PPARG PTDSS1 POLR3A TCF4 SLC39A13 ANTXR1 FLT4 GPR35 PPP1R15B MST1 COG4 PYCR1 ALDH18A1 HP_IRREGULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_HYPERPIGMENTATION FANCE CYBA SMARCAL1 SDHB KIT FANCM ERCC4 LBR ABCB6 FANCL RAF1 MVK NOP10 TERT PTEN STK11 RFWD3 PDGFRA XPA NCF2 MLH1 ERCC3 MAPRE2 FGFR3 CARD14 ERCC5 MAP2K2 SLC6A19 KRT5 DNASE1L3 PTPN11 BRIP1 BRAF ATP2A2 C1R NPM1 PORCN GNAS SEC23A WRAP53 C1S POFUT1 INSR ST3GAL5 GNA11 PDGFRB BANF1 MAFB NOTCH3 SDHC XPC RAD51C BRCA2 AKT1 GJB6 CRIPT IL6 GJB4 FANCF HRAS GJB3 FERMT1 BRCA1 TERC GJA1 CD28 MSH2 CASR GPNMB CYBB CYBC1 MMP2 BLM FANCG MAD2L2 SLX4 DDB2 FANCC KRAS PIK3CA PARN TINF2 NRAS KITLG PRKAR1A KDSR FANCI TNFRSF1A FANCD2 MSH6 ACP5 FANCA PMS2 ERCC2 DSTYK KDM6B GBA IKBKG NCF4 FGFR1 KRT14 CTLA4 NCF1 MAP2K1 SDHA CHN1 NHP2 CPOX RTEL1 TUBB XRCC2 GNAQ NDUFB11 SPINK5 SALL4 COL3A1 UBE2T USB1 SRD5A3 CTC1 TNFRSF1B ACTB DKC1 PALB2 FANCB HGD RAD51 HP_MACULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_ATROPHY PRPF31 NRL RLBP1 MAPKAPK3 GBA RHO RDH5 DHX38 PRPH2 AIPL1 WDR19 RS1 ARL2BP KCNV2 TNFRSF11B IFT140 ELOVL4 ATF6 C8orf37 HLA-A HK1 RP9 MERTK GUCY2D DRAM2 RPGR GUCA1A RAX2 SIX6 SH3BP2 PLK4 CFI HP_PALMOPLANTAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_HYPERHIDROSIS CTSB WNT10A TRPV3 PERP MBTPS2 PLAA RSPO1 COL17A1 SERPINB7 KRT17 HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD RBM8A KLHL7 MED25 ASXL1 CDK10 HP_DISCOID_LUPUS_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISCOID_LUPUS_RASH NCF2 STAT4 IRAK1 CYBB CYBA SPP1 NCF1 HP_ALOPECIA_TOTALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_TOTALIS MBTPS2 GJA1 UQCRFS1 NFKB2 RIPK4 GJB6 FOXN1 HP_SPONTANEOUS_HEMATOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMATOMAS GP1BA F8 COG8 F13A1 GP9 SMAD4 WIPF1 F10 ITGA2B ACVRL1 ITGB3 CD109 PRKACG ENG ATP7A GDF2 GP1BB F5 F13B WAS ITGA2 HP_RETICULATED_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULATED_SKIN_PIGMENTATION NHP2 TINF2 ZMPSTE24 TERT KRT14 DKC1 KRT5 LMNA HP_GENERALIZED_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_EDEMA COQ2 PRF1 PHGDH PDSS2 HELLPAR PIEZO1 PMM2 PLVAP UBR1 CALCRL CFH TMEM260 FSHR CD46 CFI CD55 HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA KRT2 TGM1 LIPN KRT10 TARS1 ALOXE3 ABHD5 GBA PNPLA1 ABCA12 NSDHL NIPAL4 SPINK5 ERCC2 POMP EBP DSP KRT1 CYP4F22 GTF2H5 CERS3 ST14 STS LORICRIN ERCC3 ALOX12B HP_DIFFUSE_PALMOPLANTAR_KERATODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_PALMOPLANTAR_KERATODERMA AQP5 SLURP1 KLHL24 SNAP29 KRT1 KRT14 HP_GENERALIZED_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERPIGMENTATION HAMP STAR MRAP TP63 KCNH1 HSD3B2 MAP2K1 AAAS POR TERT GMPPA GNAS DKC1 KRAS PARN CYP11A1 PTEN AIP NNT TXNRD2 AKT1 CDH23 MYO5A BRAF SLC40A1 GJB6 HRAS RTEL1 CYP11B1 MC2R MAP2K2 KCNN3 GPR101 HJV CYP17A1 POLA1 ACD TRAPPC11 TINF2 USP8 ATP6V1B2 PAX6 ALDH3A2 INSR LYST HP_PARTIAL_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ALBINISM PAX3 MLPH LAMTOR2 KIT RAB27A MITF MYO5A TYRP1 SNAI2 HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES NONO MEN1 CDKN2B CDKN2C CDKN1B CDKN1A TSC1 TSC2 HP_PROMINENT_VEINS_ON_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_VEINS_ON_TRUNK ATP6V1E1 PPARG ATP6V0A2 ATP6V1A AEBP1 HP_AUTOAMPUTATION_OF_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION_OF_DIGITS TGM1 RETREG1 NGF NTRK1 WNK1 CCT5 KIF1A KRT1 GJB2 MPV17 SCN9A HP_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOMATOSIS FGFR2 PTEN IDH1 CCND1 KRAS VHL TEK SMAD4 FGFR1 ACVRL1 SLC26A2 PIK3CA IDH2 GNAQ EIF2AK4 PTH1R ENG GDF2 AKT1 HP_ABNORMAL_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DERMATOGLYPHICS TWIST1 LIFR GLE1 CTBP1 RNU4ATAC DHCR7 BMPR1B LIMK1 SMARCAD1 B4GALT7 SMARCC2 G6PC3 AMACR KAT6B ARID1B A2ML1 TP63 TCF4 SALL4 SETBP1 SMARCD1 RRAS2 NUP188 ELN FGF9 MYH3 DDX11 PIGL TPM2 ATR NIPBL MED25 ATP6V1B2 B3GLCT FGFRL1 KCNH1 CHD7 PIEZO2 SOX11 AUTS2 PEX13 COL17A1 PEX10 PEX11B HOXA13 SHOC2 UBE3B TELO2 ADNP ROR2 GPR101 TCF12 FIG4 SMC3 HRAS ATRX PEX1 TFAP2A NXN SEMA3E FGD1 CHST14 DLX4 BCOR CKAP2L YY1 ASXL1 MRAS PEX12 CTCF ESCO2 KRAS IFT57 AIP SMARCB1 KMT2D DHODH BRAF RAD21 MCTP2 IGF1 SLC25A24 APC NRAS DSE EXT1 KRT14 BRF1 BHLHA9 PEX2 MAP2K1 SLC18A3 BAZ1B EXTL3 UBR1 PEX26 CCBE1 SMARCA4 UBA1 CBL SIN3A GDF5 FGFR2 SMOC1 TBX4 PLOD3 SMC1A HNRNPK GTF2IRD1 SOS2 LETM1 STAG1 DPF2 PEX6 RAPSN GPKOW RBM10 VPS33A RPL10 PORCN SPECC1L SLC16A2 PEX19 RFC2 RAB3GAP1 PEX14 GATA1 GTF2I LMX1B SLC39A13 LRP4 FOXP1 EP300 NSD2 MAP2K2 KCNN3 RASA2 THOC2 FGFR3 CHST3 CLIP2 MTOR DOK7 EHMT1 PLAA RPS23 PEX5 ATP6V0A2 PUF60 VPS13B CEP55 STXBP1 DIS3L2 NECTIN1 PAX1 CPLX1 NAA10 CREBBP ANKRD11 RAB11B TBL1XR1 ADAMTSL1 SOS1 DPH1 OFD1 SETD5 NALCN LZTR1 PACS1 PTPN11 SOX4 MYOD1 PNPLA6 TNNT3 MED12 NBAS PPP2CA ASXL2 TBL2 TGDS ARID1A RAF1 PEPD RIN2 SMARCE1 PEX3 RAB3GAP2 VAC14 KMT2A CDK10 TRPS1 PIGS RIT1 NOG ARID2 MUSK HDAC4 TNNI2 NGLY1 XYLT1 DPAGT1 BMP4 RRAS EYA1 DOCK6 KDM6A IFT122 RB1 HDAC8 PEX16 RPS6KA3 CD96 NUP88 HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA ALOXE3 TGM1 ERCC2 POMP TARS1 ABHD5 CYP4F22 GBA GTF2H5 SPINK5 NIPAL4 LORICRIN ERCC3 ALOX12B HP_ABSENCE_OF_SUBCUTANEOUS_FAT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SUBCUTANEOUS_FAT CAV1 ERCC2 ERCC3 TARS1 MPLKIP ERCC4 LMNA POLR3A KCNJ6 GTF2E2 GTF2H5 RNF113A HP_PREMATURELY_AGED_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURELY_AGED_APPEARANCE EFEMP2 ERCC5 TERT LIMK1 RFC2 ATP6V1A SOX10 MPLKIP MTAP RIT1 KITLG RAB3GAP1 ERCC6 CEP152 RAF1 NOP10 GTF2I TWIST2 WRN MITF MYO5A PAX3 STN1 ERCC3 RTEL1 ELN MAP2K2 ERCC4 TFAP2A PTPN11 RNF113A LMNA CSTA PTEN ATRIP CLIP2 PYCR1 GORAB COG5 NPM1 ATM FGFR3 GTF2H5 WRAP53 EDA ALDH18A1 PLOD1 RAB27A FBLN5 DKC1 ENPP1 GHR ATP6V0A2 CENPJ SMARCA2 ERCC8 EDNRB ERCC2 TBL1XR1 PIK3R1 ACD TERC GTF2E2 KRT5 ZNF469 CDH11 EDARADD SNAI2 TARS1 TINF2 MED12 SLC25A24 PLK4 INSR KRAS MLXIPL PARN ANAPC1 EDN3 TBL2 LMNB2 RBBP8 BRAF RAB3GAP2 POLR3A EDAR NAA10 C1R RECQL4 KCNJ6 ABCC6 STUB1 ATP6V1E1 PTDSS1 SLC2A10 MAP2K1 KRT14 ATR TRAIP TGM5 PCNT NHP2 BAZ1B PTPN22 FGFR2 ZMPSTE24 FAS COL3A1 USB1 CTC1 GTF2IRD1 TALDO1 ADAMTS2 ANTXR1 B4GALT7 DSTYK CENPE HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS NCF2 RFXAP ITGB2 RFXANK CYBB CIITA CYBA IL17RA RFX5 NCF1 IRAK4 STAT3 HP_FOLLICULAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERKERATOSIS COL6A3 MBTPS2 COL12A1 PSENEN TARS1 DSG4 NLRP1 COL6A2 KRT16 COL6A1 KRT83 KRT81 FKBP14 TRIP4 KRT86 POFUT1 HP_GENERALIZED_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION TYRP1 TYR CTNNB1 HPS4 SNORD116-1 OCA2 EDNRB MC1R EPG5 AP3D1 SNRPN PWAR1 PWRN1 PMPCA NDN LYST TTC37 SKIV2L LEMD3 DTNBP1 MITF CACNA1F HPS5 LRMDA BLOC1S3 SLC45A2 TP63 OCRL HERC2 NPAP1 MKRN3 MAGEL2 HPS6 SLC24A5 SNORD115-1 AP3B1 PAH HPS1 HP_EDEMA_OF_THE_DORSUM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EDEMA_OF_THE_DORSUM_OF_HANDS LMOD3 TGM1 ZNHIT3 RBM8A PLAA SERPING1 KLHL41 NEB ACTA1 KLHL40 HP_PALMOPLANTAR_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_CUTIS_LAXA ZNF469 C1R FGFR2 PLOD1 ATP6V0A2 RIT1 HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH ADA RMRP LIG4 HLCS IL2RG DCLRE1C TGM1 SLC27A4 IL7R CHD7 RAG1 BTD GBA RAG2 HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION PMM2 TGFB1 ATP6V1E1 TBL1XR1 ATP6V0A2 PTEN ATP6V1A AKT1 HP_PLANTAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLANTAR_HYPERKERATOSIS KRT14 TGM1 PLEC KDSR KRT5 HPGD KRT10 KRT17 LAMA3 TERT CTSC PTEN DSP SLURP1 KRT1 MBTPS2 SDR9C7 GJA1 PIGL LAMB3 LAMC2 AAAS KRT6A ITGB4 GJB6 GMPPA KRT16 PIK3CA WNT10A AKT1 RHBDF2 PKP1 NECTIN1 KRT9 COL17A1 COG6 USB1 GJB2 FERMT1 TRAPPC11 AAGAB KRT83 HP_MULTIPLE_CAFE_AU_LAIT_SPOTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS FANCE AKT1 PIK3CA SMARCAL1 CEP57 FANCG FANCM ERCC4 NF1 PCNT KLLN MAD2L2 SLX4 NF2 FANCC PLXND1 FANCL KRAS PTEN ABCB6 RFWD3 ARL6IP6 KDM5C SDHB BRAF FANCI MAP2K2 BUB3 FANCD2 BRIP1 FANCA RERE CIB1 BUB1 ATM USF3 TMC8 TP63 MAP2K1 SDHC TWIST2 GNAS XRCC2 RAD51C BRCA2 MAN1B1 UBE2T FANCF TRIP13 REV3L SEC23B TMC6 PALB2 BRCA1 FANCB BUB1B IL7 SDHD RAD51 HP_NUMEROUS_PIGMENTED_FRECKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_PIGMENTED_FRECKLES ERCC2 ERCC5 ERCC3 ERCC4 TARS1 MPLKIP GTF2E2 GTF2H5 RNF113A HP_RETICULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULAR_HYPERPIGMENTATION TERC PORCN KRT14 TERT GBA TINF2 POFUT1 HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES SETD5 TWIST1 NXN SLC16A2 RNU4ATAC SOX4 BMPR1B PEX19 SMARCC2 PEX12 PNPLA6 TNNT3 AMACR PEX14 KAT6B ESCO2 SMARCB1 ARID1A SMARCD1 NUP188 PEPD RAD21 SMARCE1 PEX3 GDF5 FGF9 FGFR3 TPM2 CHST3 CKAP2L NIPBL KMT2A PEX6 EXT1 TRPS1 FGFR2 PEX2 ARID2 HDAC4 TNNI2 PEX26 CCBE1 SMARCA4 NOG PEX5 MYH3 UBA1 SOX11 SIN3A PEX13 NALCN DIS3L2 NECTIN1 PEX10 PEX11B SMOC1 TELO2 ROR2 TBX4 SMC1A HDAC8 PEX16 SMC3 DPF2 CD96 ARID1B DPH1 PEX1 HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN CSTA ZNF469 C1R FGFR2 TBL1XR1 PLOD1 TGM5 ATP6V0A2 RIT1 HP_BILATERAL_MICROPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_MICROPHTHALMOS FRAS1 PTCH1 GDF3 ERCC3 TARS1 MPLKIP RTTN FAM111A STRA6 ERCC2 VAC14 TCOF1 MED13L FIG4 ERCC1 GTF2E2 GDF6 GTF2H5 RNF113A PUF60 SHH HP_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCHROMATOPSIA PROM1 ACO2 RPGR OPA3 CNGB3 POLG PDE6H OPN1MW OPN1SW GNAT2 PDE6C OPA1 PRPH2 DNM1L C12orf65 NR2E3 CNGA3 ATF6 TK2 BEST1 OPN1LW MORC2 FGF14 GUCY2D TMEM126A GUCA1A HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS FGFR2 RHO RLBP1 GNAT1 SLC24A1 MYO6 CACNA1F TRAPPC9 SAG RDH5 NYX GPR179 PRPH2 TRPM1 CABP4 PDE6B GRM6 GRK1 LRIT3 HP_PUNCTATE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUNCTATE_CATARACT VIM OPA3 LIM2 HSF4 CRYBB1 SEC23A MAF FTL GJA8 BEST1 CRYBB2 HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION SLC25A15 OAT TSC1 TSC2 BEST1 HP_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VISUAL_ACUITY TWIST1 RD3 VPS11 SLC39A14 TMEM231 TCIRG1 GNAT1 RTN4IP1 BEST1 IFT172 EIF2B4 CACNA1F PSAP KCNJ13 POMT1 B4GAT1 AFF4 REEP6 PRPF6 SLC38A8 MT-ND2 IMPG2 FGFR2 KIAA1549 SAG TACSTD2 KIF11 MEFV IFT140 IL12A-AS1 GMPPB ATRX PORCN TMEM138 MED25 GNAQ ZEB1 PCYT1A ARL3 SCN8A CRX FGFR3 OPA3 FBN2 GRHL2 DTNBP1 PAX6 RDH12 HCCS ZNF408 OPN1SW UFM1 CCR1 BRAF NFIX FKTN OPN1MW RHOA NDUFS3 AIPL1 NDUFV2 KLRC4 KRT12 TNFSF11 ELOVL1 WDR26 PROS1 COL2A1 IMPG1 AKT1 SDHB XYLT2 NR2F1 CEP290 GUCA1A OGT NDUFB11 TSPAN12 SMCHD1 SCN1A HPS4 SLC7A14 SLC4A11 BCOR ABCA4 TIMMDC1 NDUFAF8 NDUFB10 AGBL5 FRAS1 TRPM1 SARDH MAG GP1BB C4A PIGN RPGRIP1 SALL2 GUCY2D COL9A2 H1-4 RPE65 ARSA CABP4 NDUFS6 LYST FOXRED1 RBP3 COL4A1 CNGB1 ARHGEF2 ZNF513 IQCB1 CRB1 LRAT GALC NDUFAF4 SCAPER OPA1 GPR179 MFSD8 SALL4 LRP5 OCRL SLC24A5 TMEM216 ELOVL4 SUFU OFD1 DPP6 CLN3 ARL6 LRIT3 COL8A2 NDUFS8 PRPH2 SDHD NDUFAF3 CDHR1 NF2 FAS TMEM126B CTC1 TGFBI GPR143 POC1B IL12A CNGA1 DHDDS SDHAF1 C12orf65 SMO ADAMTS10 LCA5 SELENOI MTR KIZ CLCN7 CC2D2A PRPF8 ARNT2 POU3F4 BAP1 POMGNT1 CAPN5 NEK2 KIF14 MAK BBS2 XYLT1 CRYAA POMK GP1BA ZFYVE26 IL23R TULP1 ERF OCA2 ERAP1 MAFB NDUFS2 SMAD4 NDUFV1 C8orf37 AP4B1 DMPK CERKL NRL TBX1 NAA10 RAC1 NDP PLG TIMP3 PROM1 RPGR MEN1 TIMM8A GDF6 OVOL2 NYX IMPDH1 TBC1D24 HLA-B POMT2 B3GAT3 ALMS1 PRCD ELN SLC24A1 ATXN7 ASPA NBAS RP1L1 PDE6H NDUFAF2 PRPF4 CA4 FBN1 PRDX1 TUB EIF2B1 C1QTNF5 TTC8 KIDINS220 TMEM67 ATP1A3 FZD4 CEP164 NR2E3 PITPNM3 NDUFB3 PCARE LAMB2 CNGA3 FRMD7 VSX1 GNAS RHO HGSNAT CTNS BMP4 MT-ATP6 MTRR DNM1L RCBTB1 ARHGEF18 PITX2 RP1 NSMCE2 CLRN1 AHR NDUFS7 ARMC9 FKRP CHST6 USP45 SEMA4A OAT CHRDL1 NDUFAF5 EIF2B3 TMEM237 CNGB3 SLC1A3 CDH3 POLG PGK1 MC1R ABCC6 GUCA1B PDE6G CTNNB1 MT-ND3 COX7B TUBB3 TOPORS IDH3B MFRP PLOD1 WASF1 RFT1 PIK3CA HPS5 ACVRL1 ARL2BP WARS2 LAMA1 COL11A1 PDE6B AP4M1 ADNP C1QBP MIR184 ABCD1 P4HTM MMP19 PRPF3 GRK1 PITX3 NDUFS1 ITGA2 SPATA7 ACO2 TMEM98 ITGA2B PDE6C PPT1 MLXIPL FREM2 INPP5E PEX6 FXN ATF6 PHOX2A UBAC2 MMACHC LARGE1 DRAM2 CRYBB1 YME1L1 CDH23 HEXA CHN1 MAPKAPK3 PDGFB LRPAP1 MT-ND1 CACNA2D4 EIF2B5 NDUFS4 ATIC AHI1 MARK3 EIF2B2 TRAF7 PCYT2 TLR4 PANK2 HPS6 RIC1 EPRS1 GRM6 ZNF423 TMEM126A TYR TANGO2 LOXL3 CHST3 COL9A3 TERT EYS SDHA RGR ALG3 GDF2 DHX38 IDH3A GM2A XRCC4 SOBP PIK3R2 WHRN RBP4 IL10 MIR204 POGZ TUBB4B NHS NDUFA6 AIRE STAT4 AP4S1 RP9 COL9A1 KLHL7 GJB2 B3GALNT2 CBS CDC42 SLC52A2 RLBP1 TUBA3D TENM3 CRYGC KIF1C APC ADAMTSL4 ACTB PQBP1 PUF60 VPS13B BTNL2 SMARCB1 HEXB GRIP1 OPN1LW GNB3 NDUFA1 LIM2 NDUFA11 USH2A SH3BP2 HPS1 RP2 PRPF31 CHP1 NDUFAF1 NMNAT1 AP4E1 FAM161A ITGB3 WDR19 TRIO ROM1 NLRP3 DLD DHX37 HK1 SNRNP200 IFT88 MTFMT FSCN2 NDUFB9 AIP MERTK HLA-DRB1 NDE1 NPHP4 SMARCE1 CD109 BLOC1S3 ENG TUBGCP4 FLVCR1 PDE6A AP3B1 PRIMPOL NUBPL HP_CURLY_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_EYELASHES SETD5 ABCC9 DVL3 FZD2 RAD21 DVL1 NIPBL KCNJ8 SMC1A WNT5A HDAC8 STAG2 SMC3 KMT2A SMARCA2 HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX CLIC5 FXN RFC1 ESPN CACNA1A HP_PROGRESSIVE_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NIGHT_BLINDNESS IMPDH1 IFT172 CYP4V2 SLC7A14 CNGA1 DHDDS RLBP1 PRCD RHO EYS FAM161A KIZ RPE65 REEP6 AGBL5 RGR PRPF6 PRPH2 ROM1 KIAA1549 PRPF4 AHR PRPF8 DHX38 IDH3A POU3F4 CA4 TUB GUCA1B RPGR TTC8 SEMA4A NEK2 PDE6G ARL3 BEST1 LRAT RDH11 NR2E3 MAK CRX GUCY2D TULP1 SNRNP200 IFT88 BBS2 PCARE FSCN2 RP9 MERTK TOPORS RBP3 CNGB1 KLHL7 IDH3B ZNF513 RDH12 ZNF408 SCAPER ABCA4 C8orf37 RDH5 AHI1 HGSNAT ARL2BP IMPG2 IFT140 POMGNT1 SAG PDE6B CERKL NRL OAT PRPF31 OFD1 ARHGEF18 RP1 ARL6 CLRN1 PROM1 PRPF3 PDE6A CDHR1 USH2A CRB1 RP2 SPATA7 HP_HYPOPLASIA_OF_THE_IRIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_IRIS PORCN FGFRL1 PAX3 ITPR1 LAMB2 COL4A1 CTBP1 CPAMD8 CHN1 MAFB MITF LRP2 ERCC6 NDP FOXC1 IGF1R SALL4 SOX10 FBN1 CPLX1 NSD2 PITX2 STIM1 PIK3R1 MIR184 HHAT LETM1 ADAMTSL1 WDR73 FGFR1 HP_LACRIMAL_DUCT_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_STENOSIS KAT6A CD151 TCOF1 PTDSS1 TET3 SIX1 EYA1 YY1 PAX1 HP_ABNORMAL_PUPILLARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_FUNCTION STIM1 GNA11 AP3D1 BAP1 PHYH MPZ CHRDL1 SH3TC2 GNAQ SF3B1 PRPS1 PSAP GALC TULP1 ORAI1 KIF1B CYSLTR2 PEX7 PEX10 COLQ LAMB2 LOXL1 DNMBP PRNP HHAT ACTA2 DDC SIX6 HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM RP9 ADAR RP1 NUP62 CLRN1 CERKL AIPL1 IMPDH1 NR2E3 RPGRIP1 MT-ATP6 HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX GALC TULP1 SH3TC2 COLQ LAMB2 PRPS1 PSAP HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS FANCE CTBP1 PRDM5 LIMK1 MPLKIP VHL LTBP2 POMT1 SDHB SDHAF2 FANCL MT-CO1 PTEN RFWD3 SLC38A8 RAB3GAP1 FKRP WNT10B NF1 NUP188 ELN LSS PITX2 HHAT BRIP1 CEP55 CRYGD PYCR1 GCNT2 TMEM127 MED13L PORCN CRYBA1 MED25 B3GLCT GTF2H5 MT-TC FGFRL1 FUT8 CAV1 PAX6 GFER ALDH18A1 PNPT1 CC2D2A PHGDH FKTN MT-TK MT-TL1 SDHD GPC3 GNAQ CTDP1 GDNF NCAPG2 CRYBA2 CRYBB3 SDHC FH TELO2 FANCF LONP1 SAMHD1 LEMD2 CYP1B1 MT-CO3 FAM111A MIR184 VSX1 BRCA2 EPHA2 TMEM216 ATOH7 AGK GTF2E2 FAM126A RNF113A SEM1 RPGRIP1 FANCG ZNF469 LRP2 MT-CYB SLX4 MT-TV WFS1 POMGNT1 TREX1 LDHD SDHA BFSP2 FANCI POU6F2 BCOR CEP290 FANCD2 LARGE1 COL11A1 FANCA LMX1B RERE CRYBB1 RET CRYGB TRIM44 B9D1 FGFR1 UBE2A PEX7 COL4A1 SLC2A10 CHN1 FOXE3 BAZ1B MITF SLC25A11 XRCC2 TMEM67 TRIM28 CENPF NDP MT-TQ WT1 RPGRIP1L ETFA RNASEH2B SALL4 FGFR2 POMT2 OCRL UBE2T PXDN COL4A5 MAF MIP GTF2IRD1 RIC1 LETM1 FANCB SH3PXD2B ENTPD1 RAD51 PIGY JAG1 CHST3 FANCM RFC2 ERCC4 ETFB ERCC6 ADAMTS10 DLST REST FOXC1 MT-CO2 MT-TF RBP4 GTF2I MT-TW EPG5 RAB3GAP2 NSD2 HMX1 STIM1 B9D2 CLIP2 MSMO1 MIR204 WDPCP CRYAA PEX5 PEX11B NHS SIL1 TWIST1 IARS2 GLIS3 DIS3L2 ERCC3 MAFB TBC1D20 MT-TS2 FLNA FGF3 TENM3 CRYGC TRIP13 ADAR RAD51C AKT1 IFIH1 SOX10 COL5A1 ITPR1 SRY CPLX1 GJA8 ERCC2 LMNA PIK3R1 ADAMTSL1 BRCA1 CRPPA CSPP1 MDH2 PAX3 TCTN2 KCNA4 CPAMD8 RAB18 TARS1 B3GAT3 ETFDH MT-ND5 ABCA2 COL18A1 MAD2L2 FANCC COL1A1 EPS15L1 CRYAB BTRC TBL2 MAP2K2 MAFA FBN1 PIK3C2A RNASEH2C MAX CANT1 KIF1B XYLT2 SIPA1L3 TP63 DAG1 BDNF PIEZO2 KCTD1 COL5A2 LAMB2 H19 RNASEH2A ELP4 MKS1 TMEM231 TEK PITX3 IGF1R TMEM107 DLX6 DOCK6 MAB21L1 MT-ND6 CRYBB2 RPS19 PALB2 DLX5 SLC33A1 WDR73 MT-ND1 HP_ABNORMALITY_OF_RETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION RD3 DYNC2LI1 NDUFS1 SLC12A6 ELMO2 LIPT1 PDE6H SDCCAG8 CNGB3 KCNJ13 PTEN SURF1 REEP6 PRPF6 PDE6A IMPG2 KIAA1549 PNPLA6 ERCC3 PRPH2 CNGA3 PEX7 IFT140 NDUFS8 GSS PRSS56 ECHS1 NDUFS7 PCYT1A CRX CTNNB1 EYS RDH12 HCCS HADH ADAM9 ZNF408 PITPNM3 MT-ATP8 MT-ND4 PET100 AIPL1 NCAPG2 ERCC8 NDUFAF2 TRIM32 IFT172 MT-TQ SDHB POC1B MCOLN1 TTPA OPN1MW FAM161A PLK4 SEMA4A SLC7A14 RLBP1 ABCA4 UNC119 PHYH PEX12 MITF AGBL5 WRN FKRP FSCN2 EDN3 GUCA1A MT-CO3 COX8A BBS4 BEST1 BCS1L INVS CDH3 GUCY2D WFS1 PRRT2 NDUFV1 RBP3 CNGB1 RAB18 ZNF513 FOXRED1 IQCB1 CRB1 TBC1D20 WDR19 GMPPB OPN1LW MFSD8 TNFRSF11B SDHA OFD1 ATF6 NPHP1 PEX1 ARL6 MT-ND5 IFT80 HADHA MT-TH SDHD CDHR1 ZFYVE26 CEP290 SLC19A3 TTC21B RNF216 CNGA1 PEX19 DHDDS DRAM2 SDHAF1 RHO ERCC6 LCA5 COX6B1 SELENOI KIZ BBS10 COX14 PRPF8 NDUFA12 SUMF1 SCN1A NEK2 BBS9 MAK ERCC2 BBS2 PEX6 TULP1 COA3 LZTFL1 TAF2 C8orf37 PEX5 NR2E3 CTNS AKT1 CERKL NRL MT-CO1 PDE6C IDS LMNA PROM1 MT-ND6 EPG5 IMPDH1 RRM2B CLRN1 PRCD PEX2 COX15 RP1L1 MKKS CACNA1F TUBGCP6 APC VPS13B PRPF4 NDUFA10 MT-TL1 RMRP USH2A CA4 PRDX1 TUB GNAT2 MT-ND3 NMNAT1 TTC8 POLR3A MT-TW RP9 MTFMT CNNM4 CLDN19 PCARE PIEZO2 NDUFA2 ALDH3A2 TRAF3IP1 MT-CO2 COX20 NDUFA4 HGSNAT MT-ATP6 NDUFA9 FLVCR1 HADHB ARHGEF18 AMACR RP1 AHR PEX16 ATP1A2 LRAT RP2 CEP120 USP45 SNRNP200 RAB3GAP1 TTLL5 SCO1 NDUFAF6 RAB28 NGLY1 NPHP3 TACO1 MT-TF RPS6KA3 ALMS1 GUCA1B PDE6G NDUFA13 COX7B RAB3GAP2 ISCA1 ERCC1 TNFRSF11A TOPORS CAV1 BBS5 IDH3B MFRP MSTO1 WDR60 SCAPER MT-ND1 ARL2BP RAX2 PEX13 PDE6B PEX10 PEX11B TMEM98 TUBGCP4 COX10 SAG PRPF3 TRIM37 ACOX1 SPATA7 RPE65 MKS1 COA8 NDUFAF5 RNASEH1 CACNA2D4 RPGR MMACHC MORC2 ERCC5 MT-TS2 RDH5 PEX26 AHI1 POMT2 CFAP410 WDPCP NDUFB11 MT-TN BBS12 VPS33A NPHP4 PANK2 DYNC2H1 JAG1 SOX10 PEX14 GDF6 IFT27 RGR DHX38 IDH3A NDUFV2 CACNA1A AIRE BBS7 KLHL7 ELOVL4 CBS RPGRIP1 CEP164 RNU4ATAC FLCN ARL13B PDHA1 BBS1 CHM RIMS1 PRPF31 KIF11 TYR NDUFS3 NDUFS2 NDUFS4 EDNRB ROM1 FLNB PEPD PEX3 ARL3 MT-TK WDR34 IFT88 MT-ND2 MTTP PAX6 ATXN7 MERTK BBIP1 MT-TV POMGNT1 POMT1 LARGE1 HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS FOXRED1 PROM1 ELOVL4 NDUFAF5 MT-ND1 NDUFS2 CNGB3 NKX6-2 NDUFV1 NDUFAF4 NDUFAF1 TIMMDC1 NDUFS3 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 NDUFV2 NDUFS4 SLC2A1 MT-ND3 NDUFA1 PSAT1 NDUFB3 NDUFS7 NDUFS8 NDUFA11 PRPH2 NDUFAF3 ABCA4 TMEM126B NDUFB11 NDUFA6 NDUFS6 NDUFS1 NUBPL NDUFB9 SLC35A2 HP_UVEAL_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_MELANOMA GNA11 CYSLTR2 BAP1 DMPK GNAQ SF3B1 HP_FLAT_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_CORNEA GTF2IRD1 CLIP2 ELN LIMK1 MARK3 RFC2 PRDM5 GTF2I BAZ1B KERA TBL2 HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY PROM1 SNRNP200 CRX RPGR MFRP CNGB3 ELOVL4 TRNT1 PDE6H ABCA4 TUB GNAT2 TOPORS RS1 VCAN ALDH3A2 CNGA3 BEST1 PDE6C ATF6 RDH11 RGR PRPH2 HP_IRIS_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_HYPOPIGMENTATION TYRP1 TYR ARSG HPS4 SNORD116-1 RERE OCA2 AMACR KCNAB2 PDZD7 GPR143 PRPH2 MYO7A CIB2 EPG5 MC1R AP3D1 PITX2 CLRN1 SNRPN PWAR1 GABRD PWRN1 XYLT2 ESPN PMPCA NDN IMPG2 PRDM16 LYST SKI MLPH DTNBP1 RAB27A FOXE3 MYO5A HPS5 BEST1 CEP78 BTD IMPG1 BLOC1S3 SLC45A2 SOX10 USH2A CDH23 HERC2 PCDH15 NPAP1 MKRN3 MAGEL2 USH1C USH1G ADGRV1 HPS6 HARS1 MT-TS2 PCYT1A WHRN SNORD115-1 AP3B1 BLOC1S6 HPS1 HP_CHORIORETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSPLASIA RXYLT1 OCRL POMK NDUFB11 FKTN LARGE1 KIF11 TUBGCP6 POMGNT2 HCCS POMGNT1 POMT1 FKRP B3GALNT2 COX7B POMT2 B4GAT1 COL4A1 DAG1 TUBGCP4 CRPPA HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA SNRNP200 CA4 CRX EYS PRPF31 CLRN1 MFRP ZNF513 IMPDH1 ABCA4 RHO RP1L1 CRB1 TTC8 FSCN2 VPS13B FLVCR1 USH2A CNGB1 CNGA1 C8orf37 PRCD RP9 RP1 PCARE FAM161A TULP1 HP_UNCONTROLLED_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONTROLLED_EYE_MOVEMENTS CACNA1H GABRB3 GABRG2 SLC2A1 GABRA1 POMGNT1 JRK HP_HYPOPLASIA_OF_THE_FOVEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FOVEA TYR RPGR GDF3 CNGB3 HPS4 C8orf37 PDE6H OCA2 CACNA1F HPS5 GNAT2 PAX6 IKBKG GDF6 BLOC1S3 SLC38A8 SLC45A2 MC1R CNGA3 ATF6 PDE6C WT1 UGP2 SLC24A5 GPR143 HP_MACULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DYSTROPHY MFSD8 PROM1 MYO5A MT-TE PRPH2 CHST6 ELOVL4 IMPG2 SYCE1 BEST1 MT-TL1 TIMP3 IMPG1 MT-TK PEX1 BBS5 CDH3 RP1L1 CCNQ HP_RETINAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_TELANGIECTASIA FRG1 STN1 MT-ATP6 MT-CO1 MT-CO3 MT-ND4L MT-ND5 SMAD4 ACVRL1 NDUFS2 MT-ND6 MT-CYB MT-ND1 MT-ND2 CTC1 ENG GDF2 PCNA MT-ND4 HP_OPTIC_DISC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_HYPOPLASIA DDHD2 SALL4 NYX PDE6B GDF3 NFIX GPR179 SNAP29 CHN1 PAX6 CACNA2D4 MAFB HNRNPU CACNA1F SLC24A1 GDF6 TRPM1 SAG GNAT1 SRD5A3 HESX1 APC POLR3A GNB3 NR2F1 RHO LRIT3 CABP4 GRM6 GRK1 TRIT1 HP_IMPAIRED_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SMOOTH_PURSUIT GNB1 ITPR1 RARS1 RFC1 TMEM216 EEF2 STXBP1 PEX10 CACNA1A KCND3 TSEN54 TULP1 SACS ATXN3 MAN2B1 ATXN1 ATXN8OS POLR3B INPP5E ELOVL4 SPTBN2 ATXN10 STT3A PLA2G6 MRE11 DPM2 ATXN2 NOP56 TBCD PRNP FGF14 SYT14 SYNE1 HP_VITREORETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREORETINOPATHY COL9A1 LOXL3 CTNNB1 TSPAN12 COL18A1 LRP5 COL9A3 P3H2 CRB1 COL11A1 COL2A1 COL9A2 VCAN ZNF408 CAPN5 NR2E3 ERBB3 NDP FZD4 KCNJ13 HP_POSTERIOR_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_SUBCAPSULAR_CATARACT ARL2BP EYS OPA3 OAT ADAMTS18 IMPDH1 ZNF408 REEP6 CHMP4B GJA8 CNBP DMPK NF2 TONSL SPRTN OFD1 TULP1 RBP3 IMPG2 HP_GRANULAR_MACULAR_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULAR_MACULAR_APPEARANCE PROM1 GNAT2 RPGR CNGA3 CNGB3 PDE6C PDE6H ATF6 HP_MONOCHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCHROMACY RPGR CNGA3 CNGB3 OPN1LW ATF6 PDE6C PDE6H GNAT2 NBAS OPN1MW HBB CNNM4 HP_OPTIC_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_COMPRESSION TGFB1 TNFRSF11A SNX10 TCIRG1 TNFSF11 CA2 CLCN7 HP_HORIZONTAL_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_PENDULAR_NYSTAGMUS ADAR NUP62 LRP5 CNGB3 MT-ATP6 HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING PROM1 RPGR CNGB3 ELOVL4 PDE6H RLBP1 MT-ATP6 CACNA2D4 RHO RDH5 GNAT2 SELENOI CTNS PRPH2 ERCC8 CNGA3 PDE6C ATF6 GUCY2D ABCA4 GUCA1A HP_CENTRAL_HETEROCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HETEROCHROMIA PNPLA6 CHN1 PTEN MAFB AKT1 SALL4 HP_ANTERIOR_CHAMBER_SYNECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_CHAMBER_SYNECHIAE GRHL2 FOXE3 VSX1 CYP1B1 OVOL2 PAX6 FOXC1 PITX2 NDP MIR204 ATOH7 B3GLCT COL8A2 ZEB1 HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS SNRNP200 EYS RPGR CLRN1 CNGB3 CERKL ZNF513 PDE6H IDH3B RLBP1 ABCA4 RTTN IFT172 RHO RDH5 GNAT2 TOPORS RP1L1 AIPL1 TTC8 FSCN2 PDE6A PDE6G BEST1 USP45 NMNAT1 PRPH2 CNGA3 USH2A PDE6C CNGA1 C8orf37 ROM1 ATF6 HLA-A RPGRIP1 PRCD RPE65 RGR PCARE GGCX HP_CONGENITAL_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BLINDNESS LRAT NSMCE2 SARDH LRP5 ATIC CEP290 XRCC4 RD3 HP_HYPOPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_FUNDUS SOX10 TSC1 PAX3 COL4A1 EPG5 TSC2 MIR140 OCA2 MITF TYR CACNA1F SLC25A15 PRPH2 GUCY2D PRPF8 GGCX IFNG BLOC1S6 KIF7 EDNRB SLC45A2 GPR143 MC1R GUCA1A HP_RETINAL_NONATTACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NONATTACHMENT ATOH7 BEST1 PTEN IMPG2 IMPG1 PRPH2 AKT1 HP_VITREOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREOUS_HEMORRHAGE GNA11 CYSLTR2 BAP1 NDP LRP5 CAPN5 GNAQ SF3B1 FZD4 BEST1 PROC RB1 RS1 HP_TRACTIONAL_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACTIONAL_RETINAL_DETACHMENT TSPAN12 LRP5 NDP FZD4 VCAN HP_SLOW_DECREASE_IN_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_DECREASE_IN_VISUAL_ACUITY MT-ATP6 BAP1 MT-CO1 MT-CO3 PDGFB MT-ND4L PIK3CA TERT SMO BRAF PRPH2 DNM1L SMARCE1 MT-CYB RP1L1 MT-ND4 TRAF7 SMARCB1 SUFU CTNNB1 MT-ND5 AKT1 FA2H NDUFS2 MT-ND6 GUCY2D MT-ND1 NF2 RAX2 MFN2 MT-ND2 GUCA1A HP_LACRIMAL_DUCT_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_APLASIA FRAS1 GRIP1 SIX1 EYA1 FREM2 HP_BLUE_CONE_MONOCHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_CONE_MONOCHROMACY GNAT2 RPGR CNGA3 OPN1MW CNGB3 OPN1LW PDE6C PDE6H ATF6 HP_LIMITED_EXTRAOCULAR_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_EXTRAOCULAR_MOVEMENTS NDUFAF3 COLQ LAMB2 CHP1 SURF1 VMA21 NDUFB8 TUBB2B HSD17B4 VAMP1 DMPK SCO2 NDUFS2 HP_CORNEAL_OPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_OPACITY LIFR SMARCAL1 DHCR7 PRDM5 CHRDL1 LIMK1 NAGA NLRP3 STS FGFR1 SC5D POMT1 B4GAT1 NGLY1 PEX16 KRAS FKRP LARGE1 KIF11 ELN LCAT ERCC5 CTNS GUSB OVOL2 CEP55 PIGL COX7B APOE ABCA1 CRYGD SLC29A3 ZEB1 PAX6 NOD2 GRHL2 ALDH18A1 POMGNT2 HCCS TBCK PEX1 GLA CC2D2A FKTN PEX5 UROS CRYBB1 XPC SCARF2 NCAPG2 ERCC8 ALDH3A2 KRT12 FRAS1 PEX6 PEX26 CYP1B1 TRIP13 TMEM216 ATOH7 MCOLN1 MAN2B1 RIPK4 FIG4 GJA1 KERA PEX19 PDGFB MMP2 MYORG RPGRIP1 TBCE GALNS SLC4A11 ZNF469 PEX10 OCLN GLB1 POMGNT1 TAT LETM1 NRAS BUB3 CEP290 PIGN MBTPS2 PITX2 NEU1 LTBP2 LDLR CTSA PEX12 IKBKG B9D1 SMCHD1 ARSB CRYGC PPP1R17 MAB21L2 COL4A1 RAB23 XPR1 FOXE3 BAZ1B DST TMEM67 CENPF NDP B3GLCT APOB PDGFRB RPGRIP1L GNPTAB TGFBI TRAPPC2 GBA MMP14 GHR NDUFB11 LRP5 POMT2 OCRL PXDN ATAD3A REV3L GTF2IRD1 COL8A2 PEX14 PORCN JAG1 SLC4A4 CEP57 RFC2 FLNB PEX11B PRDM12 ERCC6 NF2 PLXND1 IDUA GTF2I TWIST2 XPA ERCC3 ATP7B SUMF1 CHST6 HMX1 ESCO2 B9D2 CLIP2 ST14 WDPCP AIRE CRPPA GJB2 HRAS TRPV3 TENM3 CRYBA4 NELFA RXYLT1 SLC25A24 GJA8 TBX1 GJB4 COL7A1 WT1 GJB3 MMP1 BUB1B CSPP1 POMK TCTN2 NSD2 GNPTG MT-CYB BMP4 ELP1 PEX2 FOXC1 COL18A1 DDB2 DAG1 TBL2 COL11A1 KDSR NTRK1 PEX13 POLR3A PIK3R1 SOX2 SLC20A2 ERCC2 FERMT1 VAC14 BUB1 CRYAA YAP1 APOA2 RAX VSX1 MKS1 APOA1 B3GALNT2 TMEM231 PEX3 PITX3 UBIAD1 MAF TMEM107 ERCC4 GNAS POLA1 JAM2 WDR73 CRYBB2 ASAH1 FUCA1 EPHX2 HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS RAB3GAP2 COQ2 ZNHIT3 PDSS2 PRPS1 RDH11 HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM NDP PAX6 ATOH7 BCOR CRPPA HP_RETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSPLASIA POMK RXYLT1 FKTN POMGNT2 HCCS LARGE1 COL2A1 KIF11 B3GALNT2 TUBB POMT1 B4GAT1 INPP5E POMGNT1 DAG1 NDP FKRP POMT2 NDUFB11 FLNB FOXE3 COX7B PDE6D CRPPA COL4A1 HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS BEAN1 SYT14 CACNA1G ITPR1 GRM1 CACNA1A SACS KCND3 UROC1 HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS BRAF RDH5 PRPF3 PRPH2 RLBP1 CTNNB1 RHO HP_HYPOPLASTIC_IRIS_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_IRIS_STROMA PAX3 FOXC1 CHN1 PITX2 MAFB MITF SALL4 HP_PERIPHERAL_VISUAL_FIELD_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_VISUAL_FIELD_LOSS CRX POU3F4 PRPH2 PROM1 CYP1B1 ZNF513 CNGB1 RLBP1 CNGA1 RHO CWC27 RDH5 GUCY2D PCYT1A SEMA4A PDE6A AGBL5 MYOC HP_DECREASED_CORNEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CORNEAL_REFLEX ALG11 ZFHX2 CLTCL1 WNK1 KIF1A LIFR ELP1 RETREG1 SCN9A HP_ABNORMALITY_OF_MACULAR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION MFSD8 PAX2 PROM1 NYX HMCN1 CTNNA1 CNGB3 PDE6H RD3 CACNA2D4 SLC24A1 SLC38A8 TRPM1 SAG CNGA3 CACNA1F RHO RIMS1 CABP4 RAX2 APOE CRX RPGR ADAR PDE6B GPR179 CFHR1 ELOVL4 FOXE3 GNAT2 OPN1MW VPS13B CDH3 GNAT1 ABCA4 PDE6C OPN1LW C8orf37 GNB3 ATF6 CFHR3 LRIT3 TMCO1 PRPH2 PCYT1A GRM6 GRK1 RAB28 HP_JERKY_OCULAR_PURSUIT_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS KCNC3 SPTBN2 PRNP GBA2 TTBK2 HP_PRIMARY_CONGENITAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_CONGENITAL_GLAUCOMA RPS19 TEK LTBP2 ADAMTSL1 CYP1B1 HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA GHR MMP2 PPP1R17 LDLR APOE CHRDL1 APOB APOA2 KERA ALDH18A1 SLC29A3 EPHX2 HP_ABNORMAL_IRIS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IRIS_PIGMENTATION TYRP1 TYR PEX14 ARSG CHRDL1 LIMK1 RFC2 PEX11B OCA2 KITLG AMACR KCNAB2 GATA1 PTEN PEX16 GTF2I MC1R MITF SNAI2 PAX3 PNPLA6 EPG5 ELN KIT PITX2 CLRN1 SNRPN PWAR1 CLIP2 PMPCA GNAQ PRDM16 MLPH DTNBP1 RAB27A MAFB SOX10 PEX1 HPS5 PEX5 CEP78 BTD SLC45A2 MYO7A AKT1 HERC2 EDNRB PEX6 USH2A PEX26 NPAP1 MKRN3 USH1C PCYT1A WHRN HPS1 PEX19 HPS4 CPAMD8 ELP1 SNORD116-1 RERE PEX2 PRKAR1A PEX10 UBE3A PDZD7 PDE4D MLXIPL GPR143 PRPH2 TBL2 CIB2 AP3D1 PEX13 GABRD LMX1B PWRN1 XYLT2 ESPN NDN PEX12 IMPG2 LYST SKI CHN1 FOXE3 BAZ1B EDN3 MYO5A PEX3 BEST1 IMPG1 BLOC1S3 SALL4 TP63 SOS1 UROC1 SLC24A5 CDH23 PCDH15 MAGEL2 USH1G ADGRV1 HPS6 GTF2IRD1 ACTG1 HARS1 MT-TS2 MYH11 ACTB SNORD115-1 AP3B1 BLOC1S6 PAH HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS FGFR3 FGFR2 SLC25A24 FGF10 SOX10 HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY SNRNP200 TMEM231 LIMK1 PDE6H TREX1 RTTN VHL IFT172 FRG1 SDHB SDHAF2 MT-ND1 MT-CYB REEP6 SERPINC1 PRPF6 PDE6A BEST1 COL4A1 KIAA1549 NF1 NOTCH3 PRPH2 CNGA3 ELN GUCA1B PDE6G ASAH1 TMEM127 MT-ATP6 GNAQ GGCX TOPORS EYS IDH3B PDCD10 MT-CO1 RDH12 MT-CO3 ZNF408 MT-ND4 SCAPER ACVRL1 ARL2BP SDHD SMCHD1 GDNF RREB1 DGCR8 PDE6B SDHC FH LOXL1 NDUFS2 RGR PRPF3 TBX1 SPATA7 ESS2 CLCNKB SLC7A14 LRP5 RLBP1 MYD88 ABCA4 SELENOI NEK1 IKBKG MLXIPL AGBL5 FSCN2 SDHA SMPD1 RPGR NOD2 ARVCF RPGRIP1 IGFBP7 NEU1 CRX RPE65 CTSA DGCR6 RET APOC2 PCNA EPAS1 RBP3 CNGB1 HEXA CERKL NDP ZNF513 KRIT1 BAZ1B SLC25A11 CCM2 GALC CENPF RDH5 AHI1 IFT140 SAG OFD1 GP1BB ATF6 HLA-A MT-ND5 PRCD ARL6 GTF2IRD1 UFD1 MT-ND4L CDHR1 CTC1 GPIHBP1 CNGA1 ETHE1 DHDDS RFC2 RHO DLST NF2 KIZ GTF2I GDF2 PRPF8 STN1 DHX38 GCDH IDH3A DNMT3B CAPN5 NEK2 MAK CLIP2 BBS2 COMT SLC37A4 PMPCA MT-ND2 RP9 GLB1 JMJD1C KLHL7 G6PC SMAD4 C8orf37 AIPL1 HIRA MYOC DUX4 NMNAT1 NRL HEXB PDE6C PROM1 USH2A RP2 LPL MDH2 MT-ND6 IMPDH1 DNMT3A CLRN1 CNGB3 FAM161A RP1L1 ROM1 USP45 TBL2 PRPF4 CA4 TUB TTC8 SEMA4A DGCR2 ARL3 FZD4 LRAT MAX NR2E3 TULP1 IFT88 KIF1B PCARE HSD11B2 MERTK CYP1B1 PSAP SEC24C GNAT2 HGSNAT IMPG2 POMGNT1 ENG PRPF31 GM2A ARHGEF18 RP1 AHR CRB1 HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE TMEM231 LIMK1 PDE6H MPLKIP LBR IFT172 FRG1 BLNK MT-ND1 CD79A REEP6 PRPF6 PDE6A XPA FGFR2 TP63 KIAA1549 CD19 NF1 NOTCH3 PRPH2 CNGA3 MEFV ELN IL12A-AS1 ASAH1 MT-ATP6 GNAQ ATM EYS RDH12 BTK ZNF408 GLA PCNA CCR1 LRBA XPC AEBP1 KLRC4 DGCR8 ACVRL1 HLA-B MT-CO3 NOD2 NLRP3 NDUFS2 RGR TBX1 RNF113A ICOS ESS2 CLCNKB SLC7A14 GNAS RLBP1 MYD88 ABCA4 B2M NEK1 AGBL5 FSCN2 MT-ND4 SDHA C4A ERCC2 ARVCF RPGRIP1 BEST1 MT-CYB IGFBP7 CRX MYOC PSMB8 FOXC2 RPE65 TFRC CTSA DGCR6 RET MASP1 RBP3 COL4A1 CNGB1 ZNF513 GJB6 SLC25A11 CCM2 GALC IFT140 IGHM OFD1 ATF6 MT-ND5 MBTPS2 USB1 ARL6 GTF2IRD1 UFD1 CDHR1 LRP5 FAS CTC1 GPIHBP1 SDHD IL12A CNGA1 ETHE1 DHDDS RFC2 RHO WIPF1 DLST NF2 SELENOI KIZ FOXC1 PRPF8 STN1 GCDH DNMT3B CAPN5 NEK2 LMNA MAK NLRP1 CLIP2 BBS2 COMT PMPCA WAS FUCA1 GLB1 JMJD1C IL23R ERF G6PC ERCC3 ERAP1 SMAD4 C8orf37 TNFRSF13C NEU1 AIPL1 HIRA DKC1 BTD RNF125 NMNAT1 CERKL NRL PDE6C NDP PLG MMP1 SMCHD1 PROM1 SDHB IGLL1 MDH2 GSN MT-ND6 IMPDH1 DNMT3A CLRN1 CR2 CNGB3 TARS1 PRCD MT-ND4L DDB2 RAG2 STX16 RP1L1 SMPD1 PRPF4 USH2A CA4 TUB ERCC6 TTC8 DGCR2 FZD4 NR2E3 PCARE PSMB4 CYP1B1 SEC24C HGSNAT MT-ND2 MAX ERCC4 KIF1B ARHGEF18 HSD11B2 RP1 AHR SNRNP200 TREX1 RTTN VHL SDHAF2 SERPINC1 ERCC5 GUCA1B PDE6G CD79B TMEM127 GGCX GTF2H5 TOPORS IDH3B HLCS PDCD10 MT-CO1 MANBA IGSF3 SCAPER UROS ARL2BP GDNF RREB1 PDE6B SDHC FH LOXL1 RAG1 PRPF3 GTF2E2 SPATA7 IKBKG MLXIPL PEX6 TNFRSF1A RPGR IKZF1 UBAC2 SCN9A SLC39A4 APOC2 EPAS1 HEXA KRIT1 FOXE3 BAZ1B ANO10 CENPF RDH5 AHI1 SAG LRRC8A GP1BB TLR4 HLA-A POLH VPS33A ENG PSMB9 MAPT GTF2I GDF2 DHX38 IDH3A SAMD9 DNASE1L3 IL10 SLC37A4 AIRE STAT4 RNF168 RP9 KLHL7 GJB2 SLC52A2 DUX4 BTNL2 HEXB COL7A1 TNFRSF13B RP2 LPL FAM161A ROM1 USP45 TBL2 SEMA4A ARL3 LRAT TULP1 SETX IFT88 FERMT1 TCF3 PIK3R1 MERTK AP1B1 HLA-DRB1 PSAP GNAT2 IMPG2 POMGNT1 IARS2 TKT ZMPSTE24 PRPF31 GM2A MAB21L1 GATA1 CRB1 HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES TUBB2B PHOX2A RRM2B MATR3 TUBB3 POLG KIF21A TYMP HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES KMT2D POLR1A PHF6 CLCN4 KRAS AMMECR1 LRP4 ARX TCOF1 SLC13A5 ARID1B PTEN TCF4 GPC3 RRAS2 CLP1 UBE3B STIL BRIP1 MOGS CLTC MED25 CBL SALL4 NSD1 FGFR3 KCNH1 PUS7 GJA1 SMO CHD7 COLEC10 SCN8A CACNA1G ARHGEF6 KMT2A GSC PEX1 SF3B4 COL11A2 WWOX NFIX BGN BPTF RAF1 DGCR8 TRIM32 MED12 FGFR1 ABAT ORC6 DYNC1I2 HRAS TBX1 CDK6 RAI1 TFAP2A CEP57 PDGFRB SEMA3E CHST14 ESS2 GATAD2B PIEZO2 MRAS SLX4 PEX10 CACNA1B CHRNG DVL1 BRAF BBS4 PAX3 BUB3 OFD1 DHODH FLCN RPS6KA3 ATRX FANCA KDM1A KLHL7 DGCR6 TBR1 PEX12 DSE PEX7 BRF1 FBXO11 DOCK3 ARHGEF2 MYH3 TAF1 SEC24D XRCC2 TOE1 PHC1 SOX9 FGFR2 OCRL SUZ12 EBP WNT5A ATAD3A HSD17B4 EEF1A2 MAGEL2 KCNB1 GTF2IRD1 LARP7 UFD1 FANCB SNORD115-1 SH3PXD2B GPKOW PIGY RAC1 FANCM TRIO GPC4 ZMPSTE24 PPP2R5D DNMT3A XRCC4 DPF2 C12orf57 EP300 ANKRD11 DEAF1 MAP2K2 SIN3A SNRPN CLIP2 COMT SMAD4 NCAPD3 EFTUD2 MAFB DCHS1 UBA5 PEX5 PCGF2 ATP6V0A2 SOS2 HIRA BCR IQSEC2 AKT1 STAG2 CREBBP OTUD6B MN1 DNAJC21 PARS2 HBB ZNF41 SOS1 RERE EZH2 NALCN KIF14 TMCO1 NSD2 RAB18 CHRNA7 MAD2L2 FGD1 PLK4 GATA4 CHAMP1 SYP VPS13B PACS1 RIN2 PEX13 DGCR2 SLC9A7 KIAA1109 STRA6 NAA10 PWRN1 PPP2R1A HUWE1 PIGN FGF12 RPL10 RIT1 ATR TRAIP IGF1R FAT4 BCL11B KCNA2 NBN KDM5B NR2F1 PMM2 POLR3A PALB2 P4HB DNM1 RNU4ATAC DHCR7 KMT2E NSDHL SNAP29 GPC6 MASP1 ACSL4 RTTN TUBB SCN3A SC5D CEP152 CHD1 EIF2AK3 RECQL4 PPP1CB PEX16 A2ML1 MAPK8IP3 MCPH1 TGFB3 POLA1 CDK5RAP2 BRCA1 PGAP3 HHAT PHOX2B PIGL QRICH1 B3GLCT TUBB3 HCFC1 FZD2 MEF2C ADAMTS3 BBS5 FTSJ1 WASF1 TBCK GMNN COLEC11 TXNL4A RREB1 TMEM237 BMP2 WASHC5 BCORL1 ACTB GLI3 PEX19 TRMT10A NXN TNNI2 MKS1 SEMA5A TMEM107 DONSON COG1 MAP3K7 TBX15 IFT57 EED GDNF MFSD2A KAT6B KCNJ2 BCOR FANCD2 CNKSR2 NF1 LRP2 ADAT3 DVL3 FLNA ASPM CEP63 TWIST2 BAZ1B ASCL1 CYFIP2 HS6ST2 WDPCP PIGO DYNC2LI1 ATP7A EXOSC2 SMOC1 TLK2 GP1BB NONO ACTG1 BBS12 MVK ERCC1 MAP11 RAD51 PTCHD1 CERT1 JAG1 SLC16A2 PEX11B PCNT LIG4 IFT27 ZIC1 ZIC2 SDCCAG8 PQBP1 MAP2K1 PIK3R2 APC BCL11A MPDZ MUSK KIF15 ESCO2 IGBP1 ATRIP CRKL ZBTB20 POLR1D BBS7 CDK13 PIGV DPH1 SMC1A ALG13 CENPJ RLIM RAD51C PACS2 PUF60 PAK3 SPART CTNND2 PGM3 CDC42 TBL1XR1 BBS1 CD96 FLII COL11A1 FRMPD4 LZTR1 CCDC22 SNORD116-1 KIF11 MGAT2 ALDH6A1 ATP6V1A FBN1 RBBP8 SLC6A17 C8orf37 NPHP1 DHCR24 PIGW DMD PHIP MAN1B1 TBCD PEX6 CDK10 COPB2 ATP6V1E1 AHDC1 RET GABRA5 NOTCH3 RRAS KIF7 TP63 IFT172 CUL4B BUB1B HSPG2 NFIB SETD2 RPS19 ABCC9 KDM6A ZNF81 OSGEP SNX14 SMS GLE1 LIMK1 RPS28 PAFAH1B1 FANCL KIFBP AFF4 FOXG1 CCNK COG7 ELN SLC1A2 PWAR1 MED13L ATP6V1B2 RAB39B NRAS SYNJ1 CEP135 TRAK1 RHOA KANSL1 KNL1 AP4E1 ZSWIM6 TELO2 ROR2 TRIP12 FIBP SPECC1L IL1RAPL1 GABRA2 SMARCA2 KDM5C MTOR MYMK ZC4H2 FLI1 FAM20C C2CD3 LDHD MEGF8 SKI MIR140 UNC80 MCTP2 SOX11 ARVCF MID2 CKAP2L UQCC2 NDN MAPK1 CTU2 HBA1 SZT2 HNRNPH2 MED13 TSPAN7 POLR1C BMP1 UBE2T PTCH1 HERC1 ASXL3 MAF LMNA HNRNPK KPTN CACNA1A RBM10 PEX14 SEPTIN9 RFC2 ERCC4 PSMD12 GABRG2 CDH11 BBS10 SLC39A13 FOXP1 BBS9 NECAP1 BBS2 KCNMA1 MYCN JMJD1C AARS1 LZTFL1 ERCC6 ASPH AUTS2 BRCA2 STXBP1 NELFA SETD5 SYT1 NECTIN1 YWHAG NSUN2 FOXL2 TRRAP RAB11B CXorf56 PYCR1 WDR35 CCDC115 DPM1 ZEB2 PTPN11 ZNF711 SASS6 B3GAT3 SON SLC25A24 ABCA5 ALX4 MKKS GDI1 RBPJ PYCR2 EFNB1 EFEMP2 BUB1 PPP1R15B ARL6 SATB2 DHDDS TFAP2B UMPS USP9X SOX5 HDAC4 SEC24C ANKLE2 HCN1 DOCK6 PEX2 SYNGAP1 PGAP2 MEIS2 TTC8 LIFR FANCE TRMT1 YWHAE DLG3 TSPEAR RFWD3 ACTL6B TGFB2 UPF3B SETBP1 CHD4 YY1 TSR2 INTS1 SCARF2 ZNF148 UBE2A FANCF ADNP NTRK2 PEX26 NPAP1 TRIP13 ADAMTS2 SPRED1 PHF8 RAB3GAP2 FIG4 B9D2 ERF TTC37 FANCG DLX4 ASXL1 TAF13 SLC2A10 ANK1 MLXIPL CHD8 SALL1 LETM1 PCLO FANCI PRRX1 UGDH APC2 PIGA CAMK2A FGF3 MECP2 PRMT7 CHN1 FOXE3 AMPD2 UBE3A SLC45A1 RBMX SLC19A3 HERC2 ADAMTSL2 FGF10 AP3B2 THOC6 RDH11 CEP290 NUS1 CENPE NOTCH2 DACT1 CHST3 PEX3 GRIN2D GATA1 GTF2I LMX1B WDR62 USP27X PIGT KCNN3 RASA2 KCNE5 PDE4D METTL5 BMPR1A STAC3 EHMT1 TBX6 KLF13 ARV1 TENM3 AGTR2 MKRN3 BRPF1 EDN3 EBF3 CLTCL1 ORC1 CAMK2G DPYD PIK3CA HNRNPU PPP3CA FANCC FBXL4 GABRB2 MAPRE2 TBL2 RNF135 ERMARD AP1S1 TUBGCP2 VAC14 FHL1 KCTD1 BBIP1 DYNC1H1 CWC27 CAMTA1 CIT ARID2 AP3B1 HBA2 HP_RETINAL_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FOLD ATOH7 KIF11 PRSS56 LRP5 TUBGCP6 NDP FZD4 HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE FUCA1 ATM MANBA ANO10 SLC52A2 GLA SMAD4 PCNA ENG DDB2 ACVRL1 XPC XPA GDF2 ERCC3 PEX6 ERCC4 ERCC5 CTSA SETX ERCC2 MASP1 GNAQ RNF168 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE CTBP1 LIMK1 SOX3 PDE6H MPLKIP POMT1 ARHGAP31 TCOF1 FANCL SLC38A8 RAB3GAP1 MAPRE2 SAG MYO5A NF1 ERCC3 CNGA3 PEX7 LARGE1 KIF11 ELN PITX2 SIX3 PRSS56 BRIP1 CEP55 GMPPB MED13L PORCN MED25 SALL4 SCN8A YAP1 FGFRL1 DPYD GJA1 SMO CHD7 PAX6 HCCS TUBA8 CC2D2A CACNA1F FKTN GPC3 PTCH1 RHOA GDF3 PIEZO2 HRAS HDAC6 FAM111A POLR1D HESX1 RNF113A SLC45A2 TFAP2A SMCHD1 SEMA3E RPGRIP1 CEP120 VSX2 HPS4 GATAD2B BCOR LTBP2 DOCK6 LRP2 PHYH SLX4 FGFR1 ESCO2 FRAS1 POMGNT1 FANCB TRPM1 NRAS LDHD SDHA SOX2 MIR140 POU6F2 BUB3 CEP290 CASK ERCC2 ARVCF DLL4 FANCA RERE CABP4 KIF7 TRIM44 TBR1 B9D1 FANCI DONSON KRAS DDHD2 COL4A1 RAB18 RBPJ SLC25A11 XRCC2 TBC1D20 TMEM67 TRIM28 WT1 VAX1 LRP5 OCRL UBE2T EBP SLC24A5 SRD5A3 CDON PXDN ATAD3A ATF6 GTF2IRD1 LRIT3 CSPP1 UFD1 ROBO1 LETM1 TMEM216 POMGNT2 GDF6 SH2B1 CEP57 FANCM RFC2 ERCC4 FANCE ERCC6 ADAMTS10 POU1F1 DLST REST LHX4 FOXC1 RBP4 DNMT3A GPR161 RAB3GAP2 ALX3 NSD2 HMX1 KIF14 ANKRD11 SIN3A STIM1 CLIP2 PDE6D COMT POMT2 WDPCP CRYAA POMK PLK4 NHS CRPPA JMJD1C NFIX FOXE3 DIS3L2 OCA2 MAFB SYCE1 FREM2 ASPH FGF3 NOTCH1 HIRA TRIP13 BRCA2 SHH SOX10 RXYLT1 CPLX1 NAA10 PDE6C FOXL2 POLR1C NDP PTF1A UGP2 PIK3R1 BRCA1 BUB1B ABCA4 ZEB2 MDH2 NYX ITPR1 TCTN2 MFRP CNGB3 PROKR2 CPAMD8 MT-CYB C8orf37 WNT3 TARS1 FANCG MKS1 COL18A1 MAD2L2 SIX6 MED12 SLC24A1 SLC25A24 ALX4 PPP2R1A ALDH1A3 VPS13B RMRP FBN1 STRA6 SETD5 POLR3A BEST1 PTCH2 TBX1 B4GAT1 XYLT2 BUB1 DAG1 BDNF RET LAMB2 H19 RAX GPR179 TUBB INTU HMGB3 SEC24C IGF1R BMP4 ALX1 ERCC5 TMEM107 FREM1 NR2F1 RB1 RECQL4 SON PALB2 PRPH2 OTX2 FKRP TRIT1 PAX2 RSPO2 DHCR7 SNAP29 PHGDH MAF RTTN SDHB SDHAF2 VHL PPP1CB RFWD3 WNT10B MC1R NUP188 CRB1 SMG9 HHAT COX7B GTF2H5 GLI3 TUBB3 ERCC1 MEF2C HSPG2 PROP1 HPS5 SDHD INTS1 MBTPS2 RREB1 TMEM237 TMEM98 SDHC FH FANCF MIR184 LHX3 HYLS1 ATOH7 FIG4 GTF2E2 GRK1 ACTB PITX3 SEM1 FANCC TBCE TBX15 IKBKG RBBP8 SALL1 RPGRIP1L PIGN FANCD2 LMX1B RIPK4 PROM1 MAB21L2 CHN1 WDR11 BAZ1B MITF CENPF NDUFB11 SMOC1 GNAT1 RARB GP1BB ERF HPS6 GPR143 GRM6 RAD51 TYR DACT1 CACNA2D4 ZIC1 GTF2I APC MPDZ B9D2 ACTG1 ABCB6 ELOVL4 B3GALNT2 TENM3 RAD51C PQBP1 PUF60 TKFC GLI2 GRIA4 GRIP1 GNB3 FOXA2 TBL1XR1 TMEM127 ADAMTSL1 PAX3 PIK3CA C12orf57 TUBGCP6 ARNT2 PRPS1 CTDP1 DOCK7 HNRNPU EPS15L1 BTRC EOGT ALDH6A1 TBL2 RNF135 MAP2K2 MAX RHO VAC14 KIF1B TP63 AP3D1 RPGR PDE6B ELP4 LYST TMEM231 GNAT2 NDE1 BLOC1S3 SMAD4 TUBGCP4 DLX6 DLX5 SUFU WDR73 OSGEP HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS TYR RSPO2 WNT3 SNAP29 SOX3 PDE6H CACNA2D4 PROP1 MAF RTTN CNGB3 POU1F1 POMT1 LHX4 PAX6 ZIC1 PPP1CB SLC38A8 DNMT3A FKRP MC1R SAG MYO5A GPR161 CNGA3 HESX1 HMX1 POMGNT1 KIF14 APC ANKRD11 MPDZ RNF113A FGFR1 GMPPB POMK TUBB3 DDHD2 PTF1A SALL4 SCN8A MEF2C NFIX ELOVL4 B3GALNT2 OCA2 MAFB TUBA8 CACNA1F HPS5 FKTN MBTPS2 PUF60 SLC45A2 GLI2 GRIA4 PDE6C WT1 GNB3 UGP2 LHX3 FOXA2 CRPPA ABCA4 GRK1 NYX GDF3 PROKR2 HPS4 ARNT2 GATAD2B C8orf37 POMT2 PRPS1 HNRNPU COL18A1 SIX6 MED12 SLC24A1 IKBKG PPP2R1A GDF6 ALDH1A3 OTX2 TRPM1 RNF135 MAP2K2 SOX2 ATF6 POLR3A CASK LARGE1 RHO CABP4 TRIM44 FANCI PROM1 AP3D1 RPGR PDE6B GPR179 CHN1 WDR11 LYST FOXE3 CENPF GNAT2 NDE1 BLOC1S3 FOXC1 GNAT1 SLC24A5 SRD5A3 CDON ATAD3A NR2F1 ERF HPS6 SON LRIT3 GPR143 ROBO1 PRPH2 GRM6 TRIT1 HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE RSPO2 WNT3 SNAP29 SOX3 CACNA2D4 PROP1 RTTN POU1F1 POMT1 LHX4 ZIC1 PPP1CB DNMT3A FKRP SAG GPR161 HESX1 POMGNT1 KIF14 APC ANKRD11 RNF113A FGFR1 GMPPB POMK TUBB3 DDHD2 PTF1A SALL4 SCN8A MEF2C NFIX PAX6 B3GALNT2 MAFB TUBA8 CACNA1F FKTN MBTPS2 PUF60 GLI2 GRIA4 WT1 GNB3 LHX3 FOXA2 CRPPA GRK1 NYX GDF3 PROKR2 ARNT2 GATAD2B POMT2 PRPS1 HNRNPU SIX6 MED12 SLC24A1 PPP2R1A GDF6 ALDH1A3 OTX2 TRPM1 RNF135 MAP2K2 SOX2 POLR3A CASK LARGE1 RHO CABP4 FANCI PDE6B GPR179 CHN1 WDR11 FOXE3 CENPF NDE1 GNAT1 SRD5A3 CDON ATAD3A NR2F1 ERF SON LRIT3 ROBO1 GRM6 TRIT1 HP_APLASIA_HYPOPLASIA_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA TYR GDF3 CNGB3 HPS4 C8orf37 PDE6H MAF COL18A1 IKBKG PAX6 GDF6 POMGNT1 SLC38A8 MC1R MYO5A CNGA3 HMX1 ATF6 MPDZ TRIM44 PROM1 AP3D1 RPGR ELOVL4 LYST OCA2 FOXE3 CACNA1F HPS5 GNAT2 BLOC1S3 SLC45A2 FOXC1 SLC24A5 PDE6C WT1 UGP2 HPS6 GPR143 PRPH2 ABCA4 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 FANCE PORCN CTBP1 LIMK1 FANCM RFC2 ERCC4 ERCC6 ADAMTS10 DLST SDHB REST SDHAF2 FANCL FOXC1 VHL WT1 PAX6 GTF2I RFWD3 WNT10B NF1 ELN NSD2 HMX1 PITX2 STIM1 HHAT BRIP1 CEP55 B9D2 CLIP2 FAM111A WDPCP FGFRL1 FOXE3 DIS3L2 MAFB CC2D2A SDHD GPC3 FGF3 TRIP13 RAD51C BRCA2 SOX10 ITPR1 SDHC FH FANCF CPLX1 MIR184 TMEM216 TMEM127 PIK3R1 ADAMTSL1 BRCA1 CSPP1 SEM1 MDH2 PAX3 TCTN2 RPGRIP1 CPAMD8 MT-CYB FANCG LTBP2 LRP2 MAD2L2 SLX4 FANCC EPS15L1 BTRC NDP TBL2 LDHD SDHA FBN1 FANCI POU6F2 CEP290 FANCD2 MAX FANCA LMX1B KIF1B XYLT2 TP63 BDNF TRIM44 B9D1 FGFR1 RET LAMB2 H19 COL4A1 ELP4 CHN1 MKS1 BAZ1B MITF SLC25A11 XRCC2 TMEM67 TMEM231 TRIM28 IGF1R RPGRIP1L SALL4 TMEM107 UBE2T DLX6 GTF2IRD1 PALB2 LETM1 DLX5 FANCB WDR73 RAD51 HP_APLASIA_HYPOPLASIA_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LENS FBN1 LTBP2 FOXE3 CPAMD8 MT-CYB HMX1 ADAMTS10 NDP LMX1B XYLT2 FGF3 HP_ICHTHYOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ICHTHYOSIS STIM1 SNAP29 MPLKIP STS FGFR1 LSS NIPAL4 PSAT1 PEX7 SLURP1 KRT1 KRAS PIGL CYP4F22 GTF2H5 SYNE2 ERCC3 SLC29A3 FGF8 KRT2 WDR11 PHYH PEX26 SLC27A4 NSDHL ORAI1 HS6ST1 MBTPS2 ALOX12B ANOS1 ALDH3A2 LMNA SRD5A3 PHGDH SHOC2 IL17RD KRT9 PEX6 AP1B1 PEX3 NLRP3 ABCA12 GTF2E2 RNF113A SYNE1 KRT16 GINS1 GJB2 CLDN1 CERS3 ALOXE3 BRAF NRAS NEK9 PEX1 PEX13 NOD2 PIGA SPINK5 CARMIL2 TGM1 EBP LIPN FLG MAP2K1 KRT10 VPS33B FLRT3 ABHD5 AP1S1 PNPLA1 KISS1R GJB6 CCDC141 PEX2 ERCC2 COL4A5 PEX16 DSP PEX11B PEX5 TARS1 PEX12 SGPL1 EMD DCC SOX10 CARD14 SUMF1 MAP2K2 TMEM43 POMP TACR3 CSTA MSMO1 ST14 HESX1 DNAJC21 HRAS GBA CHKB PEX19 DOLK VIPAS39 DUSP6 SRP54 SBDS PROK2 KRT17 IL2RB PROKR2 NSMF SULT2B1 ARSL KRT14 PEX10 FGF17 FHL1 AHSG PEX14 RIN2 TMPRSS6 ELOVL4 LORICRIN BLM SEMA3A TGM5 CHD7 KRT6B SPRY4 ITGB6 KRT6A FEZF1 EFL1 SDR9C7 HP_APLASIA_HYPOPLASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN PLEC BMS1 LIFR KRT14 XPC COL7A1 CTBP1 MTAP B4GALT7 KRAS EDAR ARHGAP31 NOP10 GNAS TERT SMO PPP1CB COL1A1 XPA TP63 LAMA3 ERCC3 TGFB2 ERCC5 COL1A2 TWIST2 COX7B PYCR1 C1R PORCN KRT5 WRAP53 FGFRL1 DDB2 EDA PLOD1 MVK LMNA HCCS PROS1 ITGB4 UROD ITGA6 DSP KRT2 FKBP14 COL17A1 LAMC2 AEBP1 ARFGEF2 UBE3B TRAF6 PMVK FERMT1 DLG4 ALDH18A1 TFAP2A PDGFRB MGP CHST14 HSPA9 FLNA DOCK6 TMTC3 CTSC FBN1 WRN TINF2 CHRNG COL3A1 LETM1 SOX18 MCTP2 PDE8B ERCC2 ANTXR2 DLL4 SLC39A13 PRKAR1A DSE CARMIL2 PTDSS1 CHUK SLC2A10 LAMB3 RBPJ RTEL1 TAF1 UBR1 MMP1 COL5A2 ARMC5 NDUFB11 PPARG TP53 TGFBR1 ERCC4 NOTCH1 NEDD4L POLH ADAMTS2 CTC1 MYH3 CUL4B ATP6V1B2 KDF1 ERCC6 EDARADD DHCR24 ZMPSTE24 NSD2 ALX4 NPM1 ATM C1S GORAB SLC29A3 DKC1 ENPP1 USP8 NFIX PPOX TGFBR2 NELFA CDH23 COL5A1 PRKD1 CPLX1 EBP PROC PIK3R1 MSX2 ACD TERC ORC1 SH3BP2 GSN SMARCAD1 SMAD3 PDE11A PARN EOGT ANAPC1 ARL6IP6 POLD1 PEPD AIP ARF1 POLR3A PRKACA ERMARD ABCC6 KCTD1 TCIRG1 DST LEMD3 ABL1 NHP2 CPOX TNXB TNFRSF11A USB1 RECQL4 MAP1B SATB2 HP_ABNORMAL_BLISTERING_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLISTERING_OF_THE_SKIN KRT14 ITGB4 COL7A1 IL12A KRT5 PLEC LAMA3 KCNAB2 KRT16 NOP10 COL17A1 LAMC2 KIT MEFV IL12A-AS1 SLC6A19 KRT1 LAMB3 ITGA6 CSTA IL10 NPM1 WRAP53 STAT4 PRDM16 IL23R CYP26C1 ERAP1 UROS ITGA3 CCR1 JUP KRT2 PPOX KLRC4 PKP1 GJB4 KRT10 GJB3 HLA-B MMP1 ECM1 FERMT1 HLA-DRB1 TERC TGM5 GJA1 SMARCAD1 KRT17 TERT RERE AQP5 PARN FOXP3 KDSR C4A IKZF1 UBAC2 GABRD TCIRG1 IKBKG SLC39A4 SKI TNFSF11 HLA-DQB1 NHP2 CPOX RTEL1 SNX10 CLCN7 USB1 KRT6B DSP TINF2 CTC1 TLR4 KRT6A DKC1 GATA1 FAS HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN PAX2 FGFR3 PRDM5 LIMK1 INSR FBN1 CHST14 FGF20 MAPRE2 ABCC6 TGFB2 ELN RPS6KA3 COL1A2 PTEN TWIST2 PYCR1 C1R B3GALT6 GGCX MRPS22 ALDH18A1 PLOD1 TERT FBLN5 FKBP14 SMARCA2 AEBP1 ATP7A TBX15 SRD5A3 EXOC6B NDUFB11 ADAMTS2 FLNA XYLT2 SLC26A2 PITX2 SLC7A7 FIG4 HRAS PDGFRB MRPS16 FGD1 IFT43 ZNF469 YY1 SLC2A10 KRAS MLXIPL BRAF MEGF8 SKI AKT3 SLC25A24 KIAA0586 SLC39A13 DSE EXT1 PTDSS1 NAA10 ATP6V0A2 MAP2K1 BCL11B BAZ1B FGFR2 COL5A2 COL3A1 COL1A1 FGF10 LTBP4 PEX1 GTF2IRD1 EFEMP2 CHST3 GSN RFC2 ATP6V1A SLC6A8 HPGD RIT1 RAF1 GTF2I RTEL1 SPINT2 MAP2K2 PTPN11 CSTA CLIP2 COL12A1 GORAB ANTXR1 GPX4 XYLT1 C1S OSMR NPR2 EZH2 DKC1 ENPP1 RIN2 CEP55 COL5A1 FOXC1 TBL1XR1 ACD CD96 NSD1 WDR35 B3GAT3 NBAS WDR19 TBL2 SUZ12 PIK3R1 VAC14 TRPS1 ATP6V1E1 CSPP1 TNXB TGM5 TUBB PARN MAN1B1 EED TINF2 B4GALT7 PUF60 HP_NEOPLASM_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKIN CHEK2 CYLD DOCK8 PMVK XPC PIK3CA MVD MPLKIP KRT17 BLNK KEAP1 APC TERT CD79A PMS2 MLH1 EPCAM SNAI2 ERCC3 ERCC5 MC1R CASP10 KRAS SLCO2A1 IGHM NF2 PTEN LAMA3 GTF2H5 HRAS CDKN1B KRT14 TSC1 CTNNB1 DDB2 KIT GNA14 NRAS MLH3 PTCH1 MSH2 MSH3 IL6 CDKN2A TSC2 TNFRSF10B LMNA LZTS1 SEC23B AKT1 DCLRE1C TMC6 SPRED1 GTF2E2 MEN1 GJA1 RNF113A BLM NTHL1 CD28 KRT6B KRT16 NF1 GJB2 COL7A1 CTSC WRN TGFBR2 TINF2 FASLG BRD4 MBTPS2 COL1A1 FAS IKBKG FGFR1 CARMIL2 SLC17A9 TMC8 LAMB3 SEMA4A SDHC CDK4 PDGFB GJB6 DICER1 CTLA4 MDM2 MMP1 RNF6 VEGFC CXCR4 TRAF7 OCRL ERCC2 SUFU ERCC4 LRRC8A RASA1 CDKN1A PRKAR1A POLH GPR143 TP53 CDKN2C FAN1 PORCN FLCN BAP1 NLRP1 KLLN OCA2 FLT4 SMO FH SASH1 XPA STAT1 IFNG BMPR1A STIM1 KRT9 ALX3 RASGRP1 NUTM1 CIB1 TYR PDGFRB NOTCH3 PTCH2 KRT1 DMPK DKC1 PLCD1 RSPO1 SLC45A2 GJC2 LAMC2 TNFRSF4 SMARCB1 GJB4 MSH6 PMS1 GJB3 ECM1 STK4 CD79B WRAP53 IGLL1 KRT5 RMRP PSENEN TARS1 TRPV3 SDHB KDSR WWOX FCN3 TERC RECQL4 FERMT1 RPS20 TCF3 PIK3R1 USF3 FDPS MITF PERP WNT10A ING1 SMARCE1 HPGD DCC SLX4 PRKCD MVK CDKN2B TNFRSF1B BRAF IL7 SDHD HP_SPARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_HAIR WNT10B APCDD1 PDGFRB KLHL24 FMR1 MPLKIP B4GALT7 DSG1 FRMD4A EDAR CCDC141 FGFR1 WDR35 ARHGAP31 TCOF1 KIFBP TERT ARID1B FSHR KRT81 FSHB TP63 LAMA3 PNPLA6 EDA2R KISS1 HR KRT74 LPAR6 PORCN MED25 PKP1 WRAP53 CBL SPRY4 TACR3 FGF17 IFT122 GJA1 CACNA1G NRAS SHOC2 BANF1 SF3B4 NR5A1 TTC7A LSS ATP7A ERCC8 SEC23A HPD ORC6 SLC7A7 NECTIN1 HRAS RNF113A SMARCA2 RPL21 LIPH TFAP2A EDARADD XRCC4 BMP15 HSPA9 IFT43 CKAP2L EDNRA DOCK6 ESCO2 CST6 WRN CLDN1 GNRHR DSG4 WDR11 SMARCB1 BRAF DLL4 ABCA12 KRT25 CDH3 SPINK5 EXT1 BRF1 COL17A1 RBPJ GJB6 TAF1 UBR1 KRT71 PTPN22 OFD1 EXT2 CYB5A DCAF17 OCRL EDA CDSN ERCC2 TINF2 MAF LMNA MBTPS2 HS6ST1 NUP107 CTC1 TGM1 ERCC6 GTPBP2 ZMPSTE24 TWIST2 DPF2 DSP PROKR2 ANOS1 PHF6 KRT86 VAMP7 ERCC3 POLR3H ITGA3 PCGF2 WNT10A TRPV3 ATP6V0A2 NOTCH1 DKC1 SNRPE PTDSS1 NSUN2 DNAJC21 LHB DUSP6 NFKBIA ACD EZH2 GSN RMRP TARS1 TRPS1 CHD7 SULT2B1 GNRH1 SLC25A24 PLK4 ANAPC1 RIN2 NTRK1 AR POLR3A PIK3R1 BNC1 TERC CCBE1 RECQL4 MED12 PPP1R15B SEMA3E SATB2 CYP17A1 ITGB4 ATR TRAIP ST14 PSMC3IP HDAC4 ALX4 DOLK IGF1R DSC3 KRT83 ALX1 FGF8 NSMF LAMB3 MRPS22 ITGB6 EPS8L3 DNMT3A LIPN KISS1R SMARCC2 SDR9C7 PPP1CB FLRT3 ARID1A KRT17 CEP152 NOP10 NF1 MAP3K1 ZFPM2 BRCA1 WWOX PIGL KRAS PYCR1 AXL RNU4ATAC B3GALT6 CYP4F22 GTF2H5 NHP2 DHX37 CANT1 KANK2 POLR3B TSR2 PROK2 COL11A1 UBE3B ADNP TRAF6 BCORL1 TMCO1 FIG4 GTF2E2 CDH1 ALDH18A1 TRMT10A TTC37 DLX4 GJB2 CTSC IKBKG NIPAL4 SRY SOX18 PPP2R3C MAP2K1 PCNT RTEL1 HLA-DRA GATA4 ALOXE3 EXOSC2 EBP KCTD1 KRT85 CENPE KDF1 ATP6V1A LIG4 WDR19 IFT52 TAC3 LAMC2 MAP2K2 GATAD2B ATRIP FLNA ANTXR1 FEZF1 NPM1 ZBTB20 KREMEN1 SRA1 SPIDR CBS SKIV2L DPH1 KAT6B CENPJ ADAMTS3 PQBP1 PRKD1 JUP SOX9 KDM1A WT1 POP1 NECTIN4 POC1A XYLT1 ALOX12B AXIN2 MGAT2 SMARCE1 PARN EOGT AHSG RBBP8 CLMP IL17RD NR0B1 DMRT3 VAC14 SMARCA4 MSX1 ATP6V1E1 PERP CWC27 FAS SMAD4 USB1 HOXC13 FAT4 TBX3 HP_MATERNAL_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_HYPERTENSION CFH CD46 HELLPAR NOS3 NR3C2 CFI HP_PROGRESSIVE_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PES_CAVUS CAV3 FHL1 WASHC5 ATP13A2 KIF5A ALDH18A1 SLC33A1 CPT1C RTN2 HP_PES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_VALGUS GABRA1 TRMT10A WDR19 PCDH19 RAI1 TPM2 GARS1 HK1 RFT1 COL6A1 MYPN COL6A3 TCF4 CAPN1 PUF60 BSCL2 FBN1 SCN1A TPM3 SCN9A SYT1 COL6A2 PPP1R15B LONP1 COL12A1 STXBP1 PIGG GDF5 SCN2A GABRG2 SCN1B TRIP4 REEP1 HP_EQUINOVARUS_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINOVARUS_DEFORMITY HADHA ATRX TBC1D24 SLC26A2 HADHB FARS2 HP_DEFORMED_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_TARSAL_BONES COL1A2 ATP6AP2 TPM2 TNNI2 ADAMTSL1 PHGDH GDF5 ECEL1 HOXD10 EZH2 HP_EQUINUS_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINUS_CALCANEUS HADHA SYT1 HADHB HOXD10 AEBP1 HP_PERIODIC_HYPOKALEMIC_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_HYPOKALEMIC_PARESIS SCN4A CDH23 KCNE3 CA2 KCNJ18 KCNJ2 SLC4A1 CACNA1S GABRA3 HP_DECREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL STAR MRAP HSD3B2 BAP1 TXNRD2 POR PDGFB PIK3CA TERT SMO GLI3 CYP11A1 AAAS SMARCE1 KCNJ11 NNT TRAF7 SMARCB1 CYP11B1 TBX19 SUFU MC2R ABCC8 AKT1 NR0B1 CYP17A1 NFKB2 NF2 PCSK1 HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION PEX14 PEX5 PEX26 PEX11B PEX1 PEX10 PEX3 PEX12 PEX16 PEX19 PEX2 PEX6 PEX13 PNPLA2 HP_MILDLY_ELEVATED_CREATINE_KINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILDLY_ELEVATED_CREATINE_KINASE COL9A3 MSTO1 SCN4A MYL2 GFPT1 MATR3 FLNC NEB MTMR14 POLG FKRP HNRNPA1 ACTA1 KCNE3 FKTN CHCHD10 POMT1 LMNA TIA1 CACNA1S COL6A3 MT-TE PEX6 DNM2 MT-TN PLEKHG5 TRMU KBTBD13 MYH14 TPM3 TPM2 COL12A1 CRPPA SQSTM1 MYH7 COL6A2 BIN1 VCP MPV17 TWNK KCNJ18 MT-TL2 SLC52A2 HADH MYPN DOK7 MYF6 TFG KLHL41 HACD1 TTN ITGA7 MT-TL1 SELENON MAP3K20 MICU1 GNE COL6A1 RYR1 TRIP4 ALG2 SYNE1 ADSS1 GABRA3 HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS LEPR POR CHD7 NR5A1 FGFR1 ESR1 CYP11A1 SRY GNRHR WDR11 KISS1 TAC3 MAP3K1 LHX4 PROKR2 ANOS1 ZFPM2 WWOX NR0B1 DMRT3 POLA1 VAMP7 SPRY4 PROP1 CYP17A1 TACR3 SOX3 FGF17 HSD3B2 HESX1 OTX2 DHX37 GNRH1 CYB5A LEP PROK2 FGF8 NSMF GATA4 GLI2 SOX9 HS6ST1 FOXA2 WT1 KISS1R DUSP6 POU1F1 HP_THYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_DYSGENESIS PAX8 KAT6B GLI3 NKX2-5 LIFR HP_THYROID_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_AGENESIS SLC26A4 PAX8 KAT6B FOXE1 NKX2-1 TSHR NKX2-5 HP_PRIMARY_GONADAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_GONADAL_INSUFFICIENCY GATA4 MAP3K1 XRCC4 SOX9 EIF2B1 EIF2B3 ZFPM2 WWOX EIF2B4 EIF2B5 NSMCE2 DHX37 WFS1 NR5A1 CYP17A1 NR0B1 WT1 DMRT3 CYB5A VAMP7 SRY EIF2B2 HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT TACR3 FGF17 DCHS1 CHD7 GNRH1 FGFR1 ESR1 FAT4 PROK2 GNRHR FGF8 NSMF WDR11 KISS1 TAC3 ZMPSTE24 PROKR2 ANOS1 LMNA NR0B1 HS6ST1 KISS1R DUSP6 SPRY4 HP_PRIMARY_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERPARATHYROIDISM CDC73 GCM2 AP2S1 MEN1 GNA11 CASR HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION SMARCB1 PROP1 BAP1 SUFU GNAS PDGFB PIK3CA TERT AKT1 SMO RBM28 SMARCE1 NF2 TRAF7 HP_PRIMARY_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_ADRENAL_INSUFFICIENCY CYP11B2 STAR MRAP PEX14 BAP1 PEX19 POR PEX11B TERT PEX12 SMO PEX10 GLI3 CYP11A1 KCNJ11 PEX16 NR3C1 TBX19 TCTN3 MC2R ABCC8 PEX13 PEX3 NFKB2 PEX6 AIRE HSD11B2 HSD3B2 PEX2 TXNRD2 PDGFB PEX1 SCNN1B PIK3CA PEX26 PEX5 AAAS SMARCE1 NNT TRAF7 CYP11B1 SMARCB1 SUFU HSD17B4 MRPS7 AKT1 NR0B1 ABCD1 CYP17A1 NF2 PCSK1 NR3C2 HP_PARATHYROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_HYPERPLASIA RET CDKN2B CDKN2C CDKN1B CDKN1A MEN1 TSC1 TSC2 HP_PREMATURE_OVARIAN_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_OVARIAN_INSUFFICIENCY GALT NPHP4 NOBOX BMP15 POLG FMR1 SDCCAG8 EIF2B3 EIF2B4 NR5A1 B4GALNT1 IQCB1 DIAPH2 FSHR NPHP3 STAG3 FASLG FOXL2 EIF2B1 TWNK CASP10 FAS AARS2 BNC1 POF1B LARS2 RASGRP1 INVS TRAF3IP1 SPIDR POLR3H PSMC3IP MCM3AP EIF2B5 NBN TTI2 RIN2 CEP164 MCM8 FIGLA EIF2B2 ERAL1 CDH23 DCAF17 WDR19 MRPS22 HFM1 RCBTB1 PRKCD NPHP1 PMM2 LMNA NUP107 THOC6 USP8 CEP290 HP_GONADOTROPIN_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOTROPIN_DEFICIENCY FGFR1 SEMA3E CHD7 LHX3 PCSK1 KISS1R POMC FSHB GLI3 HP_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPERPLASIA PRKACA HSD3B2 PDE8B KCNJ5 POR ARMC5 STAR PDE11A CYP11B2 GNAS CYP11B1 CDH23 CACNA1D NR3C1 CYP17A1 PRKAR1A TBC1D24 USP8 CYP21A2 AIRE HP_FEMALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_INFERTILITY CYP19A1 PANX1 HUWE1 FOXL2 ZP2 PGR TUBB8 TLE6 HP_COMPENSATED_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPENSATED_HYPOTHYROIDISM NKX2-1 TANGO2 KCNJ10 SLC26A4 TG FOXI1 HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL CBX2 HSD3B2 NSMCE2 DHX37 NR5A1 ESR2 SRY CYP11A1 MCM8 CYB5A GATA4 GDF9 PPP2R3C ERCC6 MAP3K1 SOX9 AR ZFPM2 KISS1R CNBP WWOX CYP17A1 NR0B1 WT1 DMRT3 FANCM VAMP7 BNC1 HP_DECREASED_CIRCULATING_PROGESTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_PROGESTERONE EIF2B4 EIF2B5 POR EIF2B1 EIF2B3 EIF2B2 HP_HYPOTHALAMIC_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HYPOTHYROIDISM SMARCB1 TRH BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO SMARCE1 NF2 TRAF7 HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY CDH23 AIP SMARCB1 BAP1 SUFU ABCC8 PDGFB PIK3CA TERT AKT1 SMO SMARCE1 MEN1 NF2 UCP2 KCNJ11 GLI3 TRAF7 HP_PSEUDOHYPOALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOALDOSTERONISM KLHL3 SCNN1B WNK1 WNK4 SCNN1G CUL3 SCNN1A NR3C2 HP_ADRENOCORTICAL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ADENOMA SCN4A APC CDKN1B CDKN1A MEN1 CDKN2B KCNE3 CYP11B2 CDKN2C CYP11B1 CACNA1S HP_CONGENITAL_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ADRENAL_HYPERPLASIA CYP11B1 STAR CYP17A1 HSD3B2 POR HP_PANCREATIC_ISLET_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_ADENOMA MEN1 CDKN2B MAFA CDKN2C CDKN1B CDKN1A HP_UNCONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONJUGATED_HYPERBILIRUBINEMIA UGT1A1 HBB RHAG G6PD CASK PKLR HP_FASTING_HYPERINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPERINSULINEMIA GLUD1 GCK INSR MEN1 CDKN1B CDKN1A HADH LMNA CDKN2B CDKN2C HP_EXERCISE_INDUCED_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYOGLOBINURIA CRPPA FKRP PYGM ACADL PFKM ACADVL PHKA1 PGK1 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II IBA57 SDHAF1 SDHD SLC39A8 ISCU SDHA HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE MT-ND6 SDHD NDUFAF5 NDUFAF1 TIMMDC1 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 AFG3L2 MT-CO3 MT-TN MT-TF MT-ND3 NDUFB3 SDHAF1 NDUFA6 NDUFS6 NDUFB9 MT-CO2 FOXRED1 MYH7 MT-TL2 MT-TS2 MT-ND1 NDUFS2 NDUFS4 NDUFV1 NDUFAF4 MT-ND4 NDUFS3 NDUFV2 MT-TL1 MT-CO1 MT-TW MT-TQ MT-ND5 NDUFA1 NDUFS7 MT-TH NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 SDHA NDUFS1 NUBPL HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY TARDBP TAZ TBK1 DNA2 HSD17B10 MYH14 SLC25A3 CHCHD10 SPG7 GYG1 SQSTM1 VCP MGME1 MRPS14 FUS C9orf72 POLG2 HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE SLC25A20 RYR1 ACADL DNA2 ACAD9 CACNA1S DPM3 HP_DISTAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS ATP6V0A4 CA2 SLC4A1 GATA3 FN1 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV CARS2 SLC25A26 EARS2 GTPBP3 SLC39A8 MRPS14 TSFM HP_DECREASED_CIRCULATING_IGG2_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGG2_LEVEL EPG5 ATM PIK3CD ADA CTPS1 HP_REDUCED_FACTOR_XIII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XIII_ACTIVITY MAP2K1 F13B PTPN11 F13A1 BRAF HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX ABCC9 FGFR1 CTBP1 GLI3 NSD2 MGP IHH ACVR1 GPC4 FIG4 HOXA13 GDF5 FLNA FGFR2 LETM1 MAP3K7 CHSY1 VAC14 FGFRL1 BHLHA9 NOG CHST11 BMP2 SALL4 BMPR1B PUF60 NELFA HOXD13 CPLX1 PTHLH KCNJ8 GJA1 HP_ABNORMALITY_OF_THE_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALCANEUS COL1A2 SYT1 ATP6AP2 OBSL1 HDAC6 TNNI2 HADHB PHGDH FLNB HOXD10 HADHA TPM2 RSPRY1 ADAMTSL1 FLNA ECEL1 COL2A1 AEBP1 EZH2 DYM LBR HP_ABNORMALITY_OF_THE_TALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TALUS CCDC8 GLE1 TNNI2 RBM10 PHEX PHGDH MYBPC1 CUL7 ADAT3 WRN ZMPSTE24 ERCC2 FGFR2 NALCN FLNA PSAT1 NUP188 MYH3 POR ARID1B MUSK EMG1 VAC14 SAMD9 KIF14 TNNT3 CHRNG SLC2A10 OBSL1 PLAA LMNA ERCC6 TPM2 MAGEL2 PUF60 ERCC5 TELO2 HOXD10 PEX1 RSPRY1 SCYL2 FIG4 CLTCL1 ERCC1 NUP88 MAF HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET MMP2 LIFR MYBPC1 SGCA KCNK9 FKRP FLNA ADAT3 FKTN CCN2 NGLY1 POMT1 LMNA PPP2R5D IRF5 HINT1 EMD BCOR FHL1 FGFR3 LARGE1 OPA1 KIAA0319L MYH3 TMEM43 PHF6 CAV1 COL12A1 PSMB8 CRPPA AMER1 MT-TE SYNE2 PIGN CHRNG DDHD2 BRF1 HLA-DRB1 BICD2 NOD2 HSPG2 SGCG PIEZO2 KY ACTA1 NSUN2 ERLIN2 GJB1 ABHD12 SCARF2 CCR6 PLEC ALS2 COL6A2 NT5C2 MYOT HRAS ERCC1 GLI3 SYNE1 HP_ABNORMAL_TARSAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TARSAL_OSSIFICATION CANT1 SLC35D1 INPPL1 HOXA13 EIF2AK3 EBP COL2A1 MATN3 PTH1R HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM CYP7A1 FARSB GPR35 MST1 BCO1 TCF4 HP_PUBERTY_AND_GONADAL_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUBERTY_AND_GONADAL_DISORDERS PROKR2 KMT2D CTBP1 CHD7 PHF6 CCDC141 KCNAB2 REEP6 STAT3 PTH1R DMXL2 KIAA1549 PNPLA6 KISS1 ERCC3 RRAS2 RPL5 BRIP1 SPRY4 DMRT1 TYMP TACR3 ATM FGF17 GLI2 RDH12 DNAL4 GLA NFIX NR5A1 MT-ND4 ANOS1 TWNK TRIM32 AKT1 HESX1 TAF13 GBA RAI1 SLC35A2 SLC37A4 SMCHD1 SEMA3E PIGQ BMP15 BSCL2 SLC7A14 GNAS HDAC8 BBS2 MRAS SLX4 COL7A1 PTCH2 INSR WT1 AGBL5 WRN GNRHR CHRNG WDR11 BBS4 SUFU NRAS RAD21 PDE8B DDX3X BEST1 RPS28 ATRX FANCA GHR RAB23 RAB18 PHGDH FLRT3 XRCC2 TBC1D20 KISS1R WFS1 MMP1 HYMAI LRP5 OCRL TP53 LZTFL1 DCAF17 ERCC2 ALX4 AGPAT2 OFD1 ATAD3A SRY MAGEL2 PMM2 ARL6 GTF2IRD1 LETM1 NUP107 FANCB CDHR1 NF2 SNORD115-1 MYH3 HACE1 MRE11 SOX9 CNGA1 FANCM DHDDS FANCE RAB3GAP1 SMO MEN1 HBB DCC GPR161 EP300 BAP1 NEK2 DEAF1 SNRPN MAK PDE4D MMP2 CLIP2 POR PIGP SIL1 TAC3 SMAD4 POLR3H DCHS1 C8orf37 DMPK LEP STEAP3 RBM28 BCS1L CERKL CPLX1 AIP CREBBP GNAO1 STK11 PREPL DUSP6 SOS1 PCSK1 MT-ND6 CBX2 LEPR TTC8 MAD2L2 SIX6 DDB2 ARSL FGD1 RPS17 VPS13B PRPF4 RAF1 TANGO2 RIN2 KCNA1 TUB EIF2B1 PRLR TGFB1 RPL35A POLA1 PWRN1 PRKACA CLPP USP7 KMT2A CYP17A1 RPL10 IQSEC2 RPL31 RIT1 PYGL RPL15 BBS10 PSMC3IP HGSNAT EIF2S3 ZMPSTE24 NSMF PRKAR1A ERCC4 RPL27 DNM1L ARHGEF18 AMACR ITGB6 RP1 NSMCE2 RECQL4 MT-TL1 POLR3A PALB2 POU1F1 CAMKMT RNU4ATAC EIF2B3 STXBP1 A2ML1 POLG MT-TF ERCC5 ALMS1 GUCA1B PDE6G KRAS CCDC28B AXL RPS26 PRDM16 ERCC1 BBS5 IDH3B B4GALNT1 PROP1 GMNN PIK3CA PUS1 RPS29 DHX37 MT-ND1 MAP3K1 HS6ST1 LAS1L PDE6B TSC2 SCN2A ABCD1 RPS10 POMC SPATA7 TRMT10A FANCC BBS12 MKS1 POLR3B RNF216 RAD51 SMPD1 RPGR FANCD2 SOX10 CYP11A1 MAB21L2 BAZ1B MT-TS2 EIF2B5 SIN3A TRAF7 GATA4 WDPCP CYP19A1 ARX REV3L NONO CAVIN1 SLC12A3 ENTPD1 GALT PCNT EYS IFT27 RGR ERCC6 STAT1 IFNG SDCCAG8 MAP2K1 CLCNKB POF1B ZBTB20 AIRE SRA1 BBS7 KLHL7 HRAS SNAP29 SCP2 RAD51C SMARCB1 AR BRAF ALG1 BBS1 DHH USH2A FLII RP2 SETD5 LZTR1 MAP3K7 IFT172 PNKP SNORD116-1 PDE11A GLI3 FAM161A EXT2 RPE65 CNTNAP2 IDH2 IGFALS NPHP1 ARL3 LRAT GABRD NR0B1 DMRT3 MERTK OTX2 GNRH1 RPS19 POMGNT1 SMARCE1 RRAS TP63 CUL4B CYP11B1 HSD3B2 WNT4 SETD2 SCN1B ANTXR1 KDM6A TBX3 FEZF1 CRB1 LIMK1 FMR1 EIF2B4 STS STAR FGFR1 ESR1 FANCL NTN1 FSHR PRPF6 FSHB LHCGR ELN PWAR1 POLE HAMP FGF8 TSC1 FGFRL1 MMP14 ZNF408 XPC ERCC8 MT-TQ NLRP3 SLC25A22 BMPR1B MRAP HSD11B1 MT-CO3 LMNA PLAGL1 SOX2 CRX NDN RPL11 SOX3 PTPN11 SKI RBP3 CNGB1 ZNF513 FOS CISD2 IFT140 CYB5A HFE TRAF3IP1 UBE2T CDON STUB1 SMC1A ROBO1 PPARG SOS2 MT-TH RFC2 INPP5K KIZ SGPL1 IDH1 PRPF8 NSD2 BBS9 MSMO1 VAMP7 G6PC RPS27 RPS7 ABCA4 MGME1 BRCA2 NECTIN1 NRL MT-CO1 H6PD MT-ND5 LHB PROM1 BRCA1 IMPDH1 PRCD BMP2 HJV MKKS FAT4 CA4 LHX4 CAV1 RAB3GAP2 BNC1 CDKL5 NSD1 NR2E3 GJB2 PPP1R15B PCARE MT-CO2 GHSR USP9X PPM1B NEUROD2 CDKN1C CTNS BMP4 PTCH1 MRPS22 CLRN1 AHR OPA1 RPS24 PGM1 GATA1 SLC25A13 RFWD3 LSS IFT74 ZFPM2 CTNNB1 SLC39A4 WWOX YARS2 NIPBL SAMD9 SLC29A3 TOPORS SCARB2 COQ2 RPL26 SCAPER ARL2BP RRM2B CTDP1 HSD17B3 PROK2 IL17RD FANCF PEX6 NPAP1 GPR101 PRPF3 SMC3 CASK FANCG RERE NRXN1 PTRH2 ANK1 MLXIPL SALL1 FANCI IGF1 APC2 CDH23 PTDSS1 TFR2 PDGFB NDP AHI1 CBL TRIM8 EIF2B2 TXNRD2 SAG HERC2 IER3IP1 MRPS7 CNBP CEP290 TRIP4 FAM111B CYP21A2 NOTCH2 DACT1 NNT RPS15A TERT PLXND1 GTF2I XPA FLI1 DHX38 IDH3A PIGT XRCC4 MC2R RASA2 DHCR7 RHO RPL18 RP9 SPIDR RLBP1 TSR2 SLC3A1 MT-TW MKRN3 FOXA2 ADA2 PHF21A PRPH2 ROM1 SIK1 TBL2 POLD1 AHSG NR3C1 RPL35 SEMA4A TULP1 SNRNP200 IFT88 FSCN2 SEMA3A POLR1C BBIP1 IMPG2 PSAT1 PRPF31 ALDOA PDE6A PAPSS2 PEX1 HP_APLASIA_HYPOPLASIA_OF_THE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS PLEC PPM1D SLC35D1 SHANK3 PIGY LIMK1 PPP1CB MPLKIP ARID1A SMARCC2 C15orf41 GPC4 STXBP1 ARHGAP31 INPPL1 NOP10 AFF4 ARID1B HEPHL1 LAMA3 ZBTB20 GPC3 SMARCD1 COL7A1 ELN RPS6KA3 PORCN B3GALT6 ATP6V1B2 DYNC2LI1 GTF2H5 WRAP53 NSD1 KCNH1 NOG SHOC2 NHP2 COL11A2 DSP SOX11 EVC HOXA13 TELO2 TBX3 FGFR1 SCN2A EOGT RIPK4 FIG4 GTF2E2 SLC25A22 RNF113A CDH1 CASK TFAP2A SHOX ROR2 PIGQ SMARCAD1 IFT43 DOCK6 GJB2 MLXIPL SMARCB1 ALOXE3 EED PLAGL1 MCTP2 RSPO1 PIGN MBTPS2 DLL4 PIGA CKAP2L LMX1B RERE APC KDM1A IKBKG MAPK1 COL17A1 PTDSS1 RBPJ GJB6 BAZ1B RTEL1 EVC2 SMARCA4 FGFR2 MMP1 HYMAI TRIM8 WNT7A STAMBP ACTL6B ERCC2 RSPO4 BHLHA9 TINF2 ADAMTSL2 TP63 ARX LMNA GTF2IRD1 PIGV DPF2 LBR ITGB4 RFC2 DMXL2 FLNB MSX1 LIG4 KRT16 ZMPSTE24 GTF2I PPP2R5D ALG3 BMPER LRP4 HRAS LAMC2 KCNN3 KIF15 ITGA6 CLIP2 CRKL NPM1 ACTG2 PIGP GRHL2 NPR2 EZH2 ERCC3 PIGO DPH1 JUP WNT10A NOTCH1 RLIM PIGL BCR GLI1 NSUN2 TRRAP GNAO1 DNAJC21 TBC1D24 POP1 TERC NECTIN4 POC1A OFD1 WASHC5 COL11A1 KRT17 CCDC22 TERT SOX4 PNKP TARS1 SLC25A24 SMARCE1 PARN SIK1 TBL2 SUZ12 KCNA1 DHX37 PIGW TCTN3 POLR3A CPT2 NOTCH2 CDKL5 VAC14 ARID2 COL2A1 IHH CWC27 NEUROD2 TBX4 USB1 LAMB3 FTO KRT6B ATP6V0A2 CTC1 PGAP3 IFT122 KRT6A SCN1B DKC1 PGAP2 WDR73 GDF5 ALOX12B HP_ABNORMAL_TOENAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TOENAIL_MORPHOLOGY SLC35D1 SHANK3 ATP6V1B2 LIMK1 KLHL24 COL7A1 RFC2 PPP1CB EDARADD ARID1A CSTB SMARCC2 IL17F GPC4 RAB3GAP1 IL17RC FLT4 WDR35 ARHGAP31 INPPL1 MSX1 LIG4 NOP10 COL17A1 AFF4 GTF2I PPP2R5D WDR19 IFT52 LRP4 DPF2 SMARCD1 HRAS ELN SCN9A CLIP2 CRKL NPM1 PORCN DYNC2LI1 WRAP53 RETREG1 IFT122 EZH2 SHOC2 DPH1 WNK1 IFT43 WNT10A NOTCH1 SOX11 BCR PLCD1 GJC2 GLI1 VEGFC NECTIN1 EVC HOXA13 TELO2 NSUN2 BMP2 PEX6 TBX3 FGFR1 KDM1A GPR101 EOGT RAB7A TBC1D24 RIPK4 RAB3GAP2 TERC NSD1 NECTIN4 SHOX KCNH1 TP63 TERT SOX4 DOCK6 KIF11 GJB2 COL11A1 DLL4 SMARCE1 KIF1A AIP PARN SMARCB1 TBL2 SOX18 SUZ12 TCTN3 CPT2 IL17RA CKAP2L FERMT1 APC IKBKG MAPK1 NOG ITGB4 RBPJ UMPS NHP2 ARID2 BAZ1B RTEL1 EVC2 RUNX2 TAF1 GJB6 SMARCA4 KRT74 EDAR ZSWIM6 MMP1 TBX4 WNT7A USB1 CLEC7A BHLHA9 TINF2 CTC1 LMX1B KRT14 TRAF3IP2 GTF2IRD1 DKC1 EED GDF5 ARID1B PEX1 LBR HP_DYSTROPHIC_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_FINGERNAILS STAT3 TP63 MAP2K1 ITGB4 ERCC3 TARS1 MPLKIP RUNX2 WNK1 GJB6 GJB2 WNT10A KRT74 KRAS COL17A1 KIF1A PKP1 BRAF NECTIN1 COL7A1 MAP2K2 SCN9A KRT14 MBTPS2 ERCC2 GJA1 ZBTB20 GTF2E2 GTF2H5 RNF113A RETREG1 HP_SUBUNGUAL_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBUNGUAL_HYPERKERATOSIS MBTPS2 SLURP1 TRPV3 CARD14 KRT17 HP_RIDGED_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_FINGERNAIL DVL3 WNT5A FZD2 MSX1 DVL1 IKBKG SLC39A4 TINF2 EFNB1 HP_NAIL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSTROPHY ACD NHP2 KRT14 COL7A1 KLHL24 MPLKIP KRT17 NOP10 TERT KRT81 IL36RN PLEC LAMA3 SCN9A FOXN1 PORCN KRT5 ABCA1 GTF2H5 WRAP53 DSG1 STAT3 ITGB4 ITGA6 TTC7A FLNA COL17A1 LAMC2 PKP1 UBE2A RAB7A GTF2E2 RNF113A TP63 KRT6B GJB2 CTSC IKBKG KRAS TINF2 BRAF RSPO1 NFKB2 AP1S3 LAMB3 ATP6V1B2 MAP2K1 GJB6 RTEL1 EVC2 KRT86 CTLA4 ERCC2 NOTCH1 MAF MBTPS2 DSP KRT85 TGM1 NLRP1 KRT1 SASH1 KRT16 PQBP1 MAP2K2 KIF15 NPM1 ZBTB20 RETREG1 GRHL2 ERCC3 KRT6A ITGA3 DKC1 WNK1 WNT10A TRPV3 NECTIN1 CD151 KDF1 CSTA MMP1 DNAJC21 TERC CD28 GSN TBC1D24 TARS1 MVK STING1 SMARCE1 KIF1A PARN ANAPC1 FOXP3 ATL1 POMP NTRK1 GJA1 RECQL4 LORICRIN DST RUNX2 ZMPSTE24 KRT74 KRT83 EVC JUP USB1 CTC1 HOXC13 TNFRSF1B HP_VERTEBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_HYPOPLASIA CSPP1 NOTCH2 GLB1 SLC35D1 INPPL1 VANGL1 FUZ SUMF1 FLNB SLC29A3 PRKAR1A ACVR1 SIX6 COL11A1 TNFRSF11A NSDHL PDE4D SOX9 DDRGK1 MAP3K7 SOX2 POLR3A RPS19 KIAA0586 SLC26A2 FLNA LBR TCIRG1 TRPV4 HP_VERTEBRAL_WEDGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_WEDGING PTCH1 BGN SUFU NPR2 MBTPS2 IFT43 PTCH2 IFITM5 FKBP10 SEC23A ARSB HP_VERTEBRAL_CLEFTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_CLEFTING LONP1 HSPA9 HAAO SOX5 TBX6 RIPPLY2 COG1 SIX6 COL11A2 SC5D KMT2D FLNB SLC26A2 SOX2 HSPG2 KDM6A ALPL CHST3 MESP2 SLC10A7 COL2A1 ALG12 TRIP11 RAD21 PEX7 CHRNG HP_VERTEBRAL_ARCH_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_ARCH_ANOMALY ANKRD11 LTBP3 JAG1 NPR2 RMRP PRKAR1A PDE4D CHST3 RNU4ATAC GNPTAB TONSL KIF22 DDRGK1 SMAD4 HP_C1_C2_VERTEBRAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_C1_C2_VERTEBRAL_ABNORMALITY IDUA MMP2 COL2A1 SKI DDR2 HP_SPINAL_DEFORMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_DEFORMITIES SNX14 POMT2 GDAP1 MYO9A SLC5A7 POMT1 SYT2 VAMP1 COL13A1 GNE SLC18A3 AGRN SLC25A1 MGME1 GMPPB SNAP25 FKRP CHAT LARGE1 HP_CERVICAL_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SPINAL_CANAL_STENOSIS CSPP1 KIAA0586 IARS2 FGFR3 PHF6 EXTL3 HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE LTBP3 CHST3 NPR2 PDE4D RMRP GNPTAB TONSL KIF22 PRKAR1A DDRGK1 HP_HYPOPLASTIC_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_VERTEBRAL_BODIES CSPP1 GLB1 SLC35D1 INPPL1 VANGL1 FUZ SUMF1 POLR3A SLC29A3 PRKAR1A ACVR1 KIAA0586 TNFRSF11A PDE4D LBR TCIRG1 HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS CCL2 TBXT VANGL1 FUZ VANGL2 HP_INFERIOR_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_LENS_SUBLUXATION GNA11 CYSLTR2 BAP1 GNAQ SF3B1 HP_MULTIPLE_ROWS_OF_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ROWS_OF_EYELASHES YARS2 FOXC2 TWIST2 CDH1 CTNND1 HSPG2 PUS1 HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS SLC25A24 MSX2 PDE4D ALX4 PRKAR1A HP_HIGH_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_HYPERMETROPIA ARSG PRSS56 LIMK1 RFC2 RERE KCNAB2 WDR35 GTF2I WDR19 TBL2 MYO7A CIB2 IFT52 RMRP BEST1 ELN CLRN1 CRB1 RPGRIP1 CSTA GABRD CLIP2 TUBB4B FGF3 ESPN MED25 PRDM16 SKI IFT122 SMAD4 LCA5 TGM5 BAZ1B IFT43 CEP78 TMEM98 RAI1 CDH23 PCDH15 GJA1 USH1C USH1G MFRP GTF2IRD1 HARS1 MT-TS2 PCYT1A OGT HP_MEDIAN_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP_AND_PALATE DVL3 FZD2 PTCH1 GLI2 SLC2A10 LHX4 HESX1 TGIF1 DVL1 SIX3 PROP1 OTX2 FOXA2 WNT5A FAM20C POU1F1 HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT PTCHD1 ACSL4 FRMPD4 ARHGEF6 ZNF711 CLCN4 DLG3 ALG13 CXorf56 AGTR2 TSPAN7 SYP FTSJ1 IQSEC2 MECP2 PAK3 USP9X USP27X GDI1 DMD UPF3B SLC9A7 CNKSR2 PNPLA8 ARX RPS6KA3 MID2 MED12 ZNF41 IL1RAPL1 ZNF81 RAB39B HCFC1 HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM CCL2 TBXT FUCA1 ROR2 VANGL1 VANGL2 FUZ MNX1 HAAO RPS19 WNT7A ZIC3 POC1A FANCB PTH1R HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN CCL2 IDUA NOTCH2 ROR2 SLC35D1 TBXT RAB33B GALNS RMRP FUZ MNX1 FLNB HAAO PRKAR1A SIX6 COL11A1 INPPL1 TRAPPC2 FGD1 PDE4D WNT7A EIF2AK3 COL2A1 COMP GLB1 FANCB MAP3K7 SOX2 VANGL1 NFIX POLR3A EXTL3 AIFM1 KIAA0586 TRPV4 LFNG SLC26A2 ZIC3 FN1 ARSB PTH1R TCIRG1 FUCA1 CSPP1 BGN NOG COG4 DYM SUMF1 SLC29A3 ACVR1 TNFRSF11A NSDHL GNPTAB SOX9 DDRGK1 VANGL2 LONP1 DDR2 RPS19 GUSB FLNA POC1A LBR HP_ABNORMALITY_OF_THE_COCCYX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COCCYX COLEC11 TAF1 COLEC10 TBX15 MASP1 FAT4 SH3PXD2B DCHS1 TRPV4 HP_POSTERIOR_HELIX_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_HELIX_PIT IGF2 KCNQ1 GPC4 GPC3 CDKN1C EP300 KCNQ1OT1 HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT TACR3 PAX3 FGF17 ADGRV1 KYNU USH1C RLBP1 MITF RHO CHD7 GNRH1 PCDH15 WFS1 RDH5 KCNE1 FGFR1 MAP3K7 KCNJ10 LRTOMT PROK2 GNRHR ROR1 PDZD7 FGF8 NSMF WDR11 SNAI2 KISS1 KCNQ1 PRPH2 TAC3 SLC26A4 IGF1 PROKR2 ANOS1 RAC1 ESRP1 HS6ST1 USH2A KISS1R DUSP6 CLPP FOXI1 SPRY4 HP_ABNORMALLY_FOLDED_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_FOLDED_HELIX GNB1 TFAP2A LONP1 EFTUD2 GNAI3 DACT1 SLC6A8 BCOR PPP1CB TWIST1 SALL1 PPP2R3C NFIX BCL11A PIGN CPT2 ARVCF PIGA FBN2 TBX1 KIAA0586 COMT AMER1 PIGL CLIC2 CSPP1 JMJD1C HSPG2 SEC24C KANSL1 HIRA TBX2 RREB1 PLCB4 BHLHA9 PYCR2 SEMA3E FGFR2 FOXP2 NAA10 CHD7 GP1BB UFD1 SLC26A2 EBF3 ACTB MED12 SLC16A2 HP_COCHLEAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COCHLEAR_MALFORMATION EYA1 KCNJ10 SLC26A4 FOXI1 ORC1 SIX1 COL4A6 HP_EXTERNAL_EAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_EAR_MALFORMATION TWIST1 PEX14 FANCE FGD1 CHST14 DACT1 TBCE FANCG FANCM PLCB4 ERCC4 PEX11B MAD2L2 SLX4 BLNK PEX10 ESCO2 FANCC FANCL ANK1 CD79A GATA4 FRAS1 PEX16 RFWD3 ZNHIT3 FREM2 MAPRE2 SALL1 SIX5 FANCI EYA1 PEX13 GNAI3 FANCD2 BRIP1 FGFR3 CCBE1 IGHM FANCA TCF3 PIK3R1 PEX12 DSE FGFR2 SIX1 CHN1 NAA10 MAFB TUBB PEX1 XRCC2 PEX3 PEX5 ADAMTS3 BCOR RAD51C BRCA2 SALL4 UBE2T PEX6 SEMA3E KIF1A FANCF PEX26 LRRC8A GRIP1 CHD7 GJA1 PEX2 EDN1 FAT4 PALB2 CD79B CTH BRCA1 FANCB IGLL1 ERF TP63 PEX19 RAD51 HP_HYPOPLASTIC_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HELICES HOXA2 FOXP1 TFAP2A FRAS1 GNAI3 PBX1 PAH PLCB4 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR TFAP2A EYA1 GDF6 GJB2 EFTUD2 SIX1 NOG COL1A2 PSMD12 NOTCH3 POU3F4 BPTF RAI1 FRAS1 COL1A1 SIX5 GJB6 SETBP1 HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT TARDBP DNAJC3 TBC1D24 KCNE1 TARS1 MARS2 MPLKIP CHCHD10 MT-ND5 RTTN POGZ MT-CYB MYO6 PSAP GRXCR2 ITGA2B CATSPER2 MT-TV ITGB3 MT-CO2 MT-CO1 MT-TF DNAJC19 DSPP NARS2 MT-TW POU3F4 TBK1 GP1BB IGF1 MYH14 POLG ATP6V0A4 KCNQ1 ARSA SQSTM1 VCP STRC GTF2H5 TUBB3 FUS GP1BA MT-TC IARS2 ERCC3 MITF MYO7A LHFPL5 MT-TS2 MT-TQ MT-TK MT-TL1 CD109 LOXHD1 DCAF17 MT-ND6 MT-CO3 ACTG1 ERCC2 COA8 GTF2E2 TWNK ADAMTSL1 CHSY1 ACOX1 RNF113A MT-ND1 C9orf72 ITGA2 HP_ABNORMALITY_OF_THE_STAPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_STAPES GDF6 POU3F4 COL1A1 GJB2 NOG COL1A2 PSMD12 GJB6 BPTF SETBP1 HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE DCAF17 DHH WNT4 WNT3 AR HP_MULTIPLE_SMALL_MEDULLARY_RENAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_SMALL_MEDULLARY_RENAL_CYSTS RPGRIP1L AP2S1 JAG1 UMOD TMEM67 CC2D2A HP_URETHRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STENOSIS PLEC TERT TBX1 LIMK1 RFC2 NHP2 BAZ1B RTEL1 ELN CDC45 ITGB4 ITGA6 NOP10 MLXIPL DKC1 PARN GTF2I TBL2 TP63 MAP3K7 USB1 RIN2 BNC2 TINF2 CTC1 MKKS GTF2IRD1 CLIP2 COL7A1 FERMT1 FLT4 POLA1 NPM1 TERC WRAP53 FLNA HP_ABNORMAL_SPERMATOGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERMATOGENESIS STAR TAF4B FANCE SYCP3 CATSPER2 FANCM ERCC4 TEX15 DAZ4 SOHLH1 ZMYND15 HSFY1 FGFR1 RPS4Y2 DDX3Y FANCL RFWD3 XRCC2 KIT FSHB LHCGR STEAP3 SUN5 STRC KISS1 TAC3 MAP3K1 CFTR CATSPER1 MC2R PROKR2 ANOS1 ZFPM2 WWOX BRIP1 BPY2 KISS1R VAMP7 SPRY4 SLC29A3 USP9Y TACR3 ATM FGF17 DAZ2 PMFBP1 VCY HFE SPINK2 ADGRG2 DHX37 SYCE1 ARMC2 MEIOB SCP2 STK11 MCM8 XKRY DAZ1 NNT RAD51C BRCA2 PROK2 SRY FANCF AR SOX9 NR0B1 LHB DAZ3 WT1 NR5A1 NANOS1 DUSP6 RBMY1A1 BRCA1 TDRD9 POC1A KLHL10 MRAP BLM FANCG DNAH9 BMP2 HJV CHD7 MAD2L2 SLX4 KDM5D FANCC ANK1 FGFR3 GNRHR WDR11 NR3C1 SEMA3A FANCI CEP19 FANCD2 FANCA DMRT3 TEX14 PRY SYCP2 BCL10 TSPY1 CDY2A GNRH1 CDY1 TEX11 TXNRD2 FGF8 NSMF GATA4 OCRL UBE2T DCAF17 PRY2 CNBP HS6ST1 ANTXR1 PALB2 FANCB RAD51 HP_RENAL_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA_APLASIA PAX2 PROKR2 FANCE DHCR7 WNT4 LIMK1 PHGDH HAAO RTTN NOTCH2 SMARCC2 STS LRP4 NDUFB8 FANCL FGF20 TCTN3 ARID1B FGFR1 IFT80 RFWD3 GDF6 ARX MCPH1 SMARCD1 SIX5 ELN WDR35 STIL CDK5RAP2 FOXH1 TFAP2A BRIP1 SURF1 LHX1 INSL3 CDON CPLANE1 RNU4ATAC HNF4A DYNC2LI1 B3GLCT RAI1 GLI3 SALL1 KIF14 TTC37 FGF8 SALL4 WDR11 CHD7 ALDH18A1 PUF60 SF3B4 GREB1L NSDHL CEP135 SOX11 TXNL4A HS6ST1 NCAPG2 MBTPS2 KNL1 RREB1 ANOS1 GDF3 FRAS1 PIEZO2 EVC IL17RD FANCF HNF1B HMGA2 TBX3 DCHS1 MKKS RIPK4 SCO2 NDUFS2 CDK6 ZIC2 ITGA8 FANCC FGFR3 PTCH1 SEMA3E XRCC4 CEP120 HSPA9 FANCG FUZ BCOR NIPBL SLX4 TAF13 DZIP1L MLXIPL SIX3 RAD21 GAS1 WDR60 SMARCB1 FREM2 FANCB KMT2D PPP2R3C MFSD2A FANCI EYA1 FANCD2 ARVCF ATRX FANCA DISP1 MCM5 ROBO2 APC TGIF1 ZIC3 CTU2 PTPN11 IQSEC2 GEMIN4 ASPM CEP63 FLRT3 NAA10 BAZ1B EVC2 XRCC2 KISS1R CENPF SMARCA4 CCDC141 PHC1 LEMD3 UBE2T FGFR2 FGF10 GP1BB THOC6 GTF2IRD1 UFD1 RMND1 TDGF1 DPF2 MAP11 REN GPKOW RAD51 PORCN JAG1 DACT1 FANCM RFC2 ATN1 ERCC4 FAM149B1 GTF2I PKHD1 DCC TBX18 DHCR24 WDR62 MUC1 SOX10 FREM1 KYNU DEAF1 TACR3 PYCR2 CLIP2 METTL5 PDE6D COMT SHH HESX1 SKIV2L SH2B1 JMJD1C SIX1 VANGL1 KIF7 NCAPD3 CDC42 KIAA0753 ARL6 PIK3CA HIRA RAD51C PQBP1 BRCA2 GLI1 CEP55 CENPJ TBX1 PAX1 RARB GRIP1 DUSP6 GLI2 TRRAP NFIA SDCCAG8 WDR34 BRCA1 PROK2 FLII CEP152 TBC1D24 HOXD13 SOX4 WNT3 SASS6 MKS1 NSMF MAD2L2 SON DLL4 WDR19 PPP2R1A FAT4 TBL2 FGF17 TMEM216 ARID1A NODAL DYNC2H1 PIK3C2A STRA6 SMARCE1 MEOX1 PBX1 PPP1R15B COPB2 KCTD1 GATA3 CCNQ NDUFAF3 SEMA3A TNXB INTU ARID2 OFD1 SEC24C ANKLE2 SUFU BMP4 TP63 DLL1 SPRY4 KDM6A PRMT7 RET RPS19 PALB2 RPL26 CIT FEZF1 CD96 HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS AR CTBP1 BMP15 WNT4 CHD7 NR5A1 FGFR1 ESR1 CYP11A1 PPP2R1A ARID1B FSHR WNT7A RBM8A GNRHR WDR11 KISS1 TAC3 HCCS NSD2 FOXL2 PROKR2 ANOS1 IRF6 NIN BNC1 STRA6 LARS2 CLPP KISS1R B3GLCT GLI3 SPRY4 CYP17A1 GATA3 MYRF TACR3 TP63 COX7B FGFRL1 FGF17 DHH SPIDR POLR3H PSMC3IP GNRH1 NUP107 TOE1 CYB5A FIGLA PROK2 ERAL1 FGF8 NSMF CYP11B1 DCAF17 NDUFB11 MRPS22 CPLX1 SOHLH1 HNF1B HS6ST1 DUSP6 LETM1 BMPR1B HP_BILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CRYPTORCHIDISM POLE COLEC10 AMHR2 AMH KIF7 MASP1 OFD1 KIAA0753 FAM149B1 CPLANE1 TCTN3 DNAJC19 TWIST1 ATP6V1A ZBTB20 C2CD3 TMEM216 ATP6V1E1 SRY CYP11B1 FARS2 NONO COLEC11 MCM5 PDE6D RIPK4 HP_RENAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HAMARTOMA CDC73 TSC1 DIS3L2 TSC2 CDKN1B IFNG HP_TESTICULAR_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_DYSGENESIS NR0B1 CBX2 DHX37 WT1 SOX9 SRY GATA4 DHH MAP3K1 NR5A1 TSPYL1 DMRT1 HP_URETHROVAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHROVAGINAL_FISTULA WDR34 DYNC2H1 IFT80 WDR60 WDR35 UBR1 HP_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_VAGINA GATA4 CYP11B1 MAP3K1 SOX9 IRF6 POR ZFPM2 WWOX DHX37 NR5A1 CYP17A1 NR0B1 WT1 DMRT3 CYB5A VAMP7 B3GLCT SRY 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 GATA4 HSD3B2 MAP3K1 SOX9 AR POR ZFPM2 WWOX DHX37 NR5A1 CYP17A1 NR0B1 WT1 DMRT3 HSD17B3 CYP11A1 CYB5A VAMP7 SRY HP_DECREASED_TESTICULAR_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_TESTICULAR_SIZE RPL10 TAF4B CUL4B SOX9 FMR1 FLRT3 PROK2 TEX15 DAZ4 CCDC141 FGFR1 FBN1 NSMF B4GAT1 XRCC2 XPA FSHB LAS1L DCC ERCC3 ARL6 SOX10 KISS1 TAC3 MAP3K1 DUSP6 ERCC5 PROKR2 SRY ANOS1 ZFPM2 THOC2 CCDC28B SLC39A4 TACR3 WWOX NR0B1 CUL7 PHF6 SYCP3 FEZF1 AXL FGF17 SAMD9 KISS1R HESX1 SOHLH1 FANCM VAMP7 GLI3 SPRY4 PROP1 SLC29A3 SRA1 FGF8 DMXL2 WDR11 HSD3B2 USP9Y HSPG2 GNRHR SOX3 PHGDH TBC1D20 DHX37 MEIOB XPC MCM8 RLIM POLR3B DKC1 LEP CTDP1 HS6ST1 PQBP1 MBTPS2 CYP11B1 GLI2 DNAJC19 IL17RD FAM111A CDKN1C FOXA2 CYP17A1 WT1 SYCE1 DAZ2 CHRM3 OGT KLHL10 KDM5C PHF8 RAB18 HDAC8 LEPR ALMS1 POR CHD7 RBMY1A1 BBS1 DDB2 DAZ1 NR5A1 GNRH1 MAP3K7 CYP11A1 LHCGR SEMA3A LHX4 TCTN3 RSPO1 ZMYND15 ATRX ERCC2 DMRT3 POLA1 ARX GBA2 SEMA3E SATB2 DAZ3 NANOS1 TSPY1 OTX2 KCNJ6 CYB5A TEX11 DDX3Y GATA4 DCAF17 CFTR ERCC4 TEX14 PMM2 TDRD9 POU1F1 HP_HYPOPLASIA_OF_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_PENIS PROKR2 KMT2D GLI3 THOC2 LIMK1 SOX3 PHF6 KLHL15 PRRX1 CCDC141 FGFR1 KCNAB2 PAFAH1B1 B4GAT1 REEP6 PRPF6 KIAA1549 TCF4 GPC3 PNPLA6 LIG4 ARL6 KISS1 LARGE1 ELN FOXH1 PWAR1 ATRX SPRY4 MYRF TACR3 FGF8 FGF17 CHD7 COLEC10 GLI2 ORC6 RDH12 ZNF408 WDR35 MTM1 CEP41 ERCC8 ANOS1 PIEZO2 TRIM32 ROR2 POLR1D HESX1 SLC25A22 SETBP1 PTCH1 KDM5C USP7 SMCHD1 SEMA3E AR PIGQ XRCC4 SRCAP SLC7A14 GPC4 OTX2 SIX3 AGBL5 FRAS1 FKRP GAS1 GNRHR CHRNG DVL1 WDR11 BBS4 TREX1 CDKN1C SOX2 MEGF8 RAD21 MCTP2 DHODH BEST1 CRX TGIF1 NDN CTU2 PTPN11 SKI RBP3 CNGB1 RAB18 SOX9 ZNF513 FLRT3 TBC1D20 UBR1 KISS1R GMPPB IFT140 TOE1 CYB5A TSPYL1 C2CD3 ALKBH8 RNASEH2B DCAF17 DHDDS WNT5A ALX4 CDON OFD1 MAGEL2 SMC1A HS6ST1 GTF2IRD1 ARX ROBO1 TDGF1 CDHR1 SNORD115-1 MYH3 CNGA1 RFC2 DMXL2 ERCC6 KIZ SGPL1 TWIST2 BBS10 DCC PRPF8 GPR161 SOX10 RAB3GAP2 NEK2 BBS9 SIN3A SNRPN MAK CLIP2 BBS2 POR VAMP7 PIGP GMNN CRPPA FANCL GRIA3 SRD5A2 LZTFL1 ABCA4 C8orf37 GHR ADAR STXBP1 IFIH1 DVL3 RXYLT1 CERKL NRL SRY STT3A POLR1C TRRAP GNAO1 NR5A1 LHB PROM1 WDR34 DUSP6 EHMT1 IMPDH1 CDH11 HOXD13 PRCD FZD2 SIX6 GNRH1 SLC25A24 MKKS PRPF4 NODAL CA4 DYNC2H1 KCNA1 TUB RNASEH2C TTC8 CDC45 KIAA1109 NEK1 CDKL5 NR2E3 CDC6 PWRN1 PBX1 KMT2A HUWE1 PCARE CYP17A1 CILK1 INTU NEUROD2 HGSNAT EIF2S3 BMP4 FAT4 NSMF KIAA0556 TAPT1 DLL1 ARHGEF18 RP1 STT3B ISL1 CLRN1 AHR HDAC8 THOC6 DHCR7 RAB3GAP1 YWHAE MNX1 RTTN SC5D IFT80 MAP3K1 GUCA1B PDE6G ZFPM2 CCDC28B WWOX HERC1 AXL RNU4ATAC NIPBL SAMD9 CHD4 SLC29A3 PRDM16 COX7B TOPORS BBS5 IDH3B POMGNT2 NEB SCAPER DHX37 ARL2BP POLR3B PROK2 ECE1 PDE6B UBE2A FEZF1 IL17RD SAMHD1 TBX3 NPAP1 DCX SCN2A PRPF3 ALG12 FIG4 SMC3 B9D2 ACTB PRKDC ZIC2 SPATA7 CASK RSPO2 NXN MKS1 TBCE RERE ACTA1 GATA4 ANK1 MLXIPL HOXA13 WDR60 FREM2 SALL1 INPP5E PSMD12 RPGR POMGNT1 ORC1 PIGA TP63 DISP1 RYR1 POLE BAZ1B UBA1 AHI1 TRIM8 POMT2 SAG WDPCP NDUFB11 HERC2 SMO POMT1 BBS12 CEP290 CUL4B DACT1 MBD5 KIAA0586 EYS ADAT3 IFT27 WNT7A RGR GTF2I KLHL41 LMX1B SDCCAG8 LAS1L DHX38 IDH3A TAC3 RNF113A OPHN1 RHO FAM111A SHH COG5 ZBTB16 COL4A1 RP9 LMOD3 SRA1 BBS7 KLHL7 EZH2 TCOF1 KLHL40 RLBP1 KAT6B RLIM DIS3L2 LEP ORC4 GRIP1 MKRN3 ARCN1 WT1 BBS1 EBF3 USH2A NSD1 WASHC5 RP2 SETD5 POMK CCDC22 PHF21A IFT172 ARNT2 PNKP SNORD116-1 FAM161A EXT2 RPE65 DNAJC19 PRPH2 ERCC2 ROM1 SIK1 DAG1 ATP6V1A TBL2 HCCS SEMA3A NPHP1 SUZ12 SEMA4A ARL3 LRAT GABRD NR0B1 TULP1 SNRNP200 IFT88 DMRT3 VAC14 FSCN2 MERTK FKTN RNASEH2A BBIP1 B3GALNT2 CDT1 IMPG2 SUFU LHX4 KIF7 BUB1B PRPF31 KDM6A HSD3B2 MAMLD1 SCN1B TBL1XR1 EED PDE6A CRB1 HP_LARYNGEAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_HYPOPLASIA KRAS SF3B4 PRRX1 HYLS1 INTU HP_LARYNGOTRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOTRACHEOMALACIA FLNB KIF22 EMC1 TONSL HAAO TRRAP HP_REPETITIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REPETITIVE_COMPULSIVE_BEHAVIOR SYT1 FOXP1 GRN AUTS2 DNAJC19 WDR26 TSC1 NR2F1 TSC2 HP_AUDITORY_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUDITORY_HALLUCINATIONS SON DNAJC5 CACNA1A CPOX CLN6 HP_OBSESSIVE_COMPULSIVE_TRAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_TRAIT GABRA1 PANK2 PCDH19 DMPK GATAD2B GABRD ELN HCN1 SCN2A SCN9A SLC45A1 MLXIPL STX1B SCN1A YWHAG FMR1 STXBP1 SCN1B GABRG2 USP7 ADGRV1 HP_APLASIA_HYPOPLASIA_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EAR RBM10 RSPO2 TWIST1 RSPRY1 POLR1A WNT3 EFTUD2 DACT1 CHST3 PLCB4 PSMD12 PCNT KCNAB2 POMT1 GATA1 RPS28 STAG2 TCOF1 LMBRD1 TWIST2 FKRP PAM16 HOXA2 SIX5 EYA1 NIN KIF15 DDX11 FGFR3 RNU4ATAC AMER1 B3GLCT GLI3 SALL1 GMNN PRDM16 POLR1D FGFR2 BMP2 FANCL SIX1 CHD7 ORC6 DCHS1 SF3B4 NFIX FKTN PCGF2 SLC26A4 BPTF GBA TSR2 LAS1L NELFA HOXA13 SEMA3E ADNP KCNJ10 ORC4 POLR1C CNOT1 FAT4 ATRX CRPPA ORC1 POC1A OTUD6B TFAP2A FOXI1 TTC37 NSD2 HSPA9 B3GAT3 HDAC8 RERE COG1 MED12 TBX15 MAPRE2 MSX2 CDT1 FANCB LETM1 DHODH FGF3 TCTN3 GNAI3 MBD5 CDC45 PAK1 LARGE1 CDC6 GABRD MCM5 POLA1 PBX1 AGA RPS26 PIGN KCTD1 POLE FBXO11 SKI CHUK PLEC ABHD5 INTU PIK3CA HS6ST2 CENPJ SMAD4 TP63 POMT2 MAF EDN1 HNRNPK RIC1 HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR DDX11 FGF3 SIX5 FOXI1 EYA1 SIX1 SLC26A4 KCNJ10 HP_ABNORMAL_PROSTATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROSTATE_MORPHOLOGY TP53 RNF43 PTEN CDH1 PHF6 CHEK2 ZFHX3 EPHB2 BTK STAT6 BRIP1 BMPR1A NAB2 GREM1 APC RAD50 RAD51D RAD51C KLF6 HLA-DPB1 MXI1 BARD1 HLA-DPA1 PTPN22 CTLA4 MAD1L1 BRCA1 AR NBN BRCA2 RNASEL PRTN3 MRE11 RAD51 HGD PALB2 HP_CONGENITAL_BILATERAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION FBLN1 COL12A1 TELO2 CLTCL1 COL1A1 SHROOM4 HP_LIMITED_HIP_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_HIP_MOVEMENT PIGY MMP2 MYL2 NALCN MAP3K7 RNU4ATAC GPC6 DYSF ESCO2 TNNT1 ACTA1 FKBP10 FBN2 COMP SELENON ZBTB20 SLC6A9 F8 UNC80 MYH3 GNPTAB TTN CHST3 SPEG TPM2 SLC10A7 COL2A1 PTH1R TRPV4 MYH7 BICD2 NIPA1 PNPT1 HSPG2 DST PIEZO2 RYR1 KAT6B TPM3 ERLIN2 LGI4 HACD1 ITGA7 TELO2 MAP3K20 BIN1 PCYT1A FGFR3 SLC26A2 HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD TRAF3IP1 IDUA IFNGR1 POP1 SLC26A2 HP_ACETABULAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_DYSPLASIA AP4M1 POLR1A VPS33A EXTL3 MYO18B AP4E1 AP4B1 EIF4A3 GUSB RPS15A AP3B1 AP4S1 HP_LARGE_ILIAC_WINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_ILIAC_WINGS ATP7A RNU4ATAC ACP5 SMAD4 B3GALT6 AMER1 HP_HYPOPLASTIC_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_PELVIS CCDC8 PORCN RSPO2 COL2A1 OBSL1 CEP120 WNT3 CUL7 ERCC6 NSDHL POC1A ERCC8 WNT7A HP_HIP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_OSTEOARTHRITIS SMAD3 GDF5 ACAN TRAPPC2 COL2A1 HLA-B CLCN7 COMP TRPV4 FRZB HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION ESCO2 NIN TBCE IGF1 POLR3A EMG1 INSR HP_MODERATELY_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATELY_SHORT_STATURE SLC39A13 SELENOI COL10A1 HOXD13 RUNX2 HP_SEVERE_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION SETD5 TRMT10A FGFRL1 CTBP1 ASXL3 TBC1D20 WFS1 POU1F1 NIN RPL10 INSR GNPTAB ERCC8 PPP1R15B RAD21 CPLX1 NSD2 IGF1 LHX4 SHPK TSHB EMG1 SMC1A HDAC8 LETM1 NIPBL SMC3 KMT2A RYR1 GATA3 HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS RAG1 PTPRC RAG2 CD3E IL7R CD3D CD247 HP_FEEDING_DIFFICULTIES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES_IN_INFANCY KMT2D DYNC2LI1 PIGY SLC6A8 SUCLA2 ELP1 IL17F KCNAB2 AFF4 ARID1B TSFM RRAS2 MYH3 PWAR1 FGFR2 PCCB MOGS ATRX SH3BP2 PNPT1 HADH PEX1 DYRK1A CHRNA1 TPM2 SOX11 KANSL1 RYR1 NDUFAF8 PRKCSH ATP7A SLC5A7 PEX6 B9D1 IFT172 WDR26 COLQ COL11A2 SDHB IGF2 RARS2 HRAS SCO2 NDUFS2 SETBP1 RAI1 MRPS16 SRCAP PDSS2 COL13A1 TCTN2 MRAS PCCA CLDN16 PEX10 FLI1 BCOR ASL C2CD3 COL6A3 PAX8 BRAF RAD21 CYP11B2 OFD1 RPGRIP1L MBD5 EMG1 ARVCF FLCN ARL3 PSAT1 VRK1 ARSA INPP5E NDN PEX12 IQSEC2 SKI TCTN1 NECTIN1 GALC CISD2 WDR19 B3GLCT AQP2 CPLANE1 OCRL AHI1 ARL13B SRP54 FARS2 ASXL3 HSD17B4 MAGEL2 SMC1A PMM2 CEP104 AVPR2 IFT80 UFD1 SOS2 SDHD DDC KIAA0586 SNORD115-1 PIGV TMEM237 DLEC1 TTC21B MYO9A PEX14 RAC1 GPT2 MECP2 SMARCD1 TRIO SDHAF1 AGRN RAB3GAP1 ACTA1 MMAA MTR CPT1A SNAP25 LMBRD1 SLC9A6 MCCC1 GCDH EP300 DGUOK ARMC9 DEAF1 SIN3A SNRPN PHF6 ERCC2 COMT SCNN1G SCN4A CASR JMJD1C ST3GAL5 NFIX PLAA EFTUD2 CEP120 WNK1 DCHS1 PEX5 PCGF2 CNTN1 DMPK AUTS2 HIRA TBCK RETREG1 TGFBR2 WFS1 CREBBP UGP2 COL6A1 SLC25A1 ITCH SOS1 RERE NALCN EPG5 SOX4 TRAPPC12 PTS PEX2 ELN ASPA SMPD1 PPP2R1A KDM6A FAT4 RNF6 VPS13B BCS1L ARID1A TALDO1 RAF1 PRDX1 PEX13 SMARCE1 RAB3GAP2 CPT2 SLC18A3 IL17RA NSD1 TBX1 CDH1 PWRN1 USP7 KMT2A ARX PIGN PIBF1 NDUFAF3 RIT1 ARID2 SEC24C TRMU TPM3 DLX4 GRHL3 SYT2 HADHB LAMB2 SON HDAC8 PGAP2 HSPD1 TUBB6 SCNN1B PDE6D SMARCC2 AIFM1 DHCR7 BCKDHB VAMP1 SLC46A1 IL17RC NDUFB8 SLC1A4 TCTN3 SEC63 PEX16 A2ML1 MT-TE SCNN1A RPS6KA3 TREX1 PARS2 TOP3A PDE10A SURF1 HADHA NIPBL DBT TUBB3 PRDM16 ERCC1 CASK HSPG2 WDR60 CSPP1 TXNL4A ACTL6B RREB1 CHRNE KCNK9 SEMA3E UBE3B SELENON ADNP COQ2 PEX26 IFT140 NPAP1 CHD7 WWOX CC2D2A LAMA2 SMC3 HTRA2 PEX19 RHBDF2 YY1 TMEM67 KIAA0556 UBE3A KRAS MLXIPL SMARCB1 CLCF1 UGDH APC2 MMACHC NRAS ERCC5 BIN1 LIFR GTPBP3 MAP2K1 NDUFS4 SMARCA4 CBL CHAT HACD1 BCKDHA DPYS TP63 LRP5 MOCS1 MKS1 ITGA7 HERC2 SLC52A1 GP1BB REV3L UBTF NONO TRAF3IP2 FKRP DLG1 TRIP4 DPF2 SAMHD1 ARHGAP29 TANGO2 PANK2 DYNC2H1 TET3 PEX11B HLCS FAM149B1 ATP6V0A2 PLXND1 ACADS CEP41 CDK8 SDHA ERCC6 DEGS1 FLNA SLC25A22 PIGT MAP2K2 MMAB PNPO RASA2 KIF15 UNC80 GNPTAB TK2 PIEZO2 POGZ ZNHIT3 COG5 COL6A2 UQCRFS1 KIF7 EZH2 PIGO KIF1A KIAA0753 TSEN54 TSPYL1 PIGL PQBP1 PUF60 MKRN3 CRLF1 TBC1D24 SCYL2 CLTCL1 ORC1 WASHC5 FLII SETD5 MYL2 LZTR1 MAP3K7 CCDC22 PTPN11 GOT2 SNORD116-1 PRPS1 KLHL40 OPA1 ASXL2 CTCF TMEM216 UBB SUZ12 PIGW BMP4 WDR34 GABRD MSX1 TRAPPC4 NACC1 SCN9A PSAP PEX3 RRAS C12orf65 SIK1 BUB1B TXN2 COL1A1 CLEC7A BTD MAP3K20 PGAP3 HYLS1 SETD2 TGFB1 SPATA5 EED IRF6 SLC16A2 HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE MYSM1 SLC35D1 ACP5 DHCR7 CHST3 GPC6 WDR35 INPPL1 FGFR3 IFT80 COL1A1 COMP TONSL WDR19 IFT52 FGFR1 KYNU FLNB XRCC4 SHOX MATN3 GDF5 COL2A1 GPX4 MTOR SLC26A2 DYNC2LI1 B3GLCT IFT122 HSPG2 BMPR1B GSC PPIB COL1A2 CANT1 SMC1A IFT43 GLI1 EVC ROR2 SLC39A8 EBP HDAC6 DDR2 ARCN1 WDR34 PCYT1A ALG12 KMT2A XYLT1 DYM MMP13 NXN LBR CEP120 RMRP MBTPS2 B3GAT3 FZD2 ASXL1 COG1 P3H1 COL11A1 TBX15 WDR60 DVL1 SIK3 CFAP410 ACAN DYNC2H1 DHCR24 ALPL PRKAR1A KIAA0586 GNPAT PEX7 CSPP1 MAB21L2 EVC2 CREB3L1 PTH1R SOX9 CRTAP WNT5A NSMCE2 IHH DVL3 TRIP11 AGPS HP_ADIPOSE_TISSUE_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADIPOSE_TISSUE_LOSS INSR CAV1 PLIN1 BSCL2 ERCC3 TARS1 LMNB2 MPLKIP CIDEC LMNA ERCC6 FOS KCNJ6 ERCC8 PPARG ZMPSTE24 ERCC2 AGPAT2 POLR3A ERCC4 LIPE PSMB8 CAVIN1 GTF2E2 GTF2H5 RNF113A HP_SEVERE_SHORT_LIMB_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_LIMB_DWARFISM NSMCE2 FLNB LBR XRCC4 GDF5 HP_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTNATAL_GROWTH_RETARDATION KMT2D CTBP1 RNU4ATAC ATP6V1A MASP1 SMOC1 INSR PCNT ERCC6 CHD1 LIG4 ARID1B DMXL2 TCF4 PSPH MAP2K1 SETBP1 EP300 POU3F4 RAB3GAP2 PPP1R15B NSD2 LMNA KIF15 CTNNB1 PDE4D PNPLA8 GNPTAB ESCO2 CUL7 ATR NIPBL COG4 B3GLCT SMC1A TUBB3 PALB2 EPB41 FGFRL1 COLEC10 CHD7 ALDH18A1 MTRR CDC42 DYM SALL4 TBC1D20 COLEC11 BRAF ATP6V0A2 SPTB RPL10 ADAMTS3 TNNT2 ARG1 ERCC8 PIEZO2 DNAJC19 SEMA3E CPLX1 NSUN2 LHX4 MYPN CREBBP DCX FAM111A TMCO1 PCYT1A FIG4 SMC3 ATRX ACTB KMT2A RERE WASHC5 CYP27B1 SETD5 TRMT10A TFAP2A BLM PTPN11 CCDC22 RNPC3 MCM4 TBCE RAB18 HDAC8 CKAP2L GINS1 COG1 SIX6 POU1F1 TAF1 NBAS MGAT2 COQ7 KDM6A RTEL1 TGDS IGFALS FLNA PLAGL1 CDKN1C SOX2 RAD21 MCTP2 IGF1 MYH3 DHODH CASK NALCN TSHB MBD5 EMG1 PRKAR1A BRIP1 GHSR NAA10 CCBE1 VAC14 CDK10 SLC4A1 RYR1 SPTA1 GATA3 ATP6V1E1 GNA11 ASXL3 CDAN1 KIF20A SEC24D XYLT1 WFS1 NDE1 NIN IARS1 KCNJ6 HYMAI KIF7 CYP2R1 BUB1B GM2A BNC2 GYPC TNNI3 SHPK EBP SNRPB PLOD3 FLNC LARP7 FAT4 SLC2A1 LETM1 RPL13 GUSB PYGL CTC1 MAF HP_RHIZOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIA MYSM1 TONSL LBR ACP5 CEP120 DHCR7 CHST3 GPC6 MBTPS2 B3GAT3 FZD2 RMRP ASXL1 COG1 WDR35 COL11A1 TBX15 FGFR3 GPX4 WDR19 DVL1 INPPL1 SIK3 IFT52 FGFR1 CFAP410 HDAC6 ACAN DHCR24 KYNU FLNB SHOX COL2A1 KIAA0586 MTOR SLC26A2 GNPAT IFT80 B3GLCT PEX7 CSPP1 MAB21L2 IFT122 GSC CREB3L1 SMC1A IFT43 PTH1R CRTAP WNT5A EBP ARCN1 DVL3 PCYT1A ALG12 AGPS GDF5 KMT2A DYM MMP13 HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY MC4R INPP5E PCSK1 POMC VPS13B HP_NEONATAL_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE EVC RMRP COL1A2 EVC2 SLC26A2 COL2A1 PTH1R COL1A1 DYNC2LI1 SOX9 GLI1 FGFR3 HP_GENERALIZED_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_NEONATAL_HYPOTONIA PEX26 MT-TT ADNP PEX12 PEX3 PSMD12 PEX2 TBC1D24 PEX16 MED12 VAC14 ATP2B3 FIG4 PEX10 PEX6 BPTF COG4 HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK GLYCTK PIGY CERT1 NALCN ABCC8 NDUFS2 VPS11 RARS1 ASNS AIMP1 MECP2 ADCY5 RTTN INSR TUBB4A LMX1B ALG3 LIPT1 KCNJ11 PAM16 SLC6A9 ALG11 RAB3GAP2 PPP1R15B GM2A OSTM1 PIK3R2 PNPO TREX1 PARS2 EXTL3 SMG9 UNC80 GNPTAB PDE10A BRAT1 PCCB CACNA2D2 COG6 VPS13D CACNA1E SPR KCNMA1 NDUFA1 SPATA5 SLC25A19 TUBB3 INS TH VAMP2 MRPS22 PCDH12 CHMP1A SLC18A2 GRIA3 NEUROD2 CACNA1G PNPT1 GFER ELP2 PCGF2 DHPS ATAD3A GALC WARS2 SLC6A3 ADAR ACTL6B COG4 ACSF3 STXBP1 IFIH1 SOX10 UBE3B SLC39A14 KIF1A SAMHD1 PAFAH1B1 DCX DARS1 HTT UGP2 ARX PLCB1 SLC19A3 DENND5A EMC1 PIGP SLC35A2 TRMT10A TMTC3 PDX1 GLS NECAP1 AP4S1 TRAPPC12 RAB18 PTS CTNNB1 CHP1 PRPS1 TSEN2 PCCA GFM1 MAN2B1 UFC1 OCLN GJC2 OPA1 TARS2 WWOX RUSC2 GRIN2A PCLO NSMCE3 NEDD4L NHLRC2 AP3D1 RNASEH2C KIDINS220 CASK UGDH PYCR2 PIGA MBOAT7 TUBGCP2 RYR1 GCK ALG6 RNU12 DNAJC12 RNASEH2A SLC13A5 WDR45B EXOSC3 GPHN AMPD2 PSAP NDUFB11 EIF2S3 NSUN2 RNASEH2B DHDDS NEXMIF FAM126A FARS2 IER3IP1 PMM2 GRIN2D PSAT1 SLC30A9 DDC WDR73 FGF12 HACE1 HP_ACUTE_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_RHABDOMYOLYSIS TANGO2 RYR1 LPIN1 CTDP1 CACNA1S HP_DISTAL_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_AMYOTROPHY PDK3 CUL4B KDM5C TFG TCAP HSPB1 INF2 FLNC YY1 ATL1 MFN2 TPM3 FGD4 LMNA BICD2 HINT1 ATXN3 FLRT1 GJB1 ADSS1 MAG DYSF MORC2 KIF5A MT-TE KLC2 CPT1C RYR1 HP_INFANTILE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_MUSCULAR_HYPOTONIA GNB1 SMS NALCN PIGY NKX2-1 RARS1 ATP6V1A DMXL2 RTTN STXBP1 ADAT3 NDUFB8 FGFR3 SUOX TRAPPC11 ALG11 KCNN3 EXTL3 KIF15 UNC80 SURF1 POGZ COG5 UGT1A1 ATP6V1B2 TUBB3 PIGP COG8 KCNH1 PIGO CDC42 GFER DCHS1 DNMT3A ATP6V0A2 PIGL POMT2 SYT1 MT-ND1 NUP62 TELO2 ADNP COQ2 MED12 BMP2 RAC1 GNAO1 SCN2A ITCH TBC1D24 ITGA7 CLTCL1 ATRX SCO2 NDUFS2 SLC25A22 SLC35A2 GABRA1 CASK PCDH19 PIGQ PACS1 MECP2 GATAD2B PNKP PDSS2 NRXN1 PHKG2 ADAR NEK1 MT-ND4 TRPS1 MAN2B1 PEX13 AHCY CNTNAP2 COL5A1 FKRP FAT4 SIK1 MT-ATP6 SCN9A MT-TL1 ACADVL SARDH GRIN2A ERMARD NTNG2 KCNA1 PIGW MT-ND3 MT-TK CDKL5 MT-TW GABRG2 TBCD DEAF1 MT-ND6 MT-ND2 RYR1 TUBB2B SLC39A14 NACC1 RPL10 ATP6V1E1 RNU12 PHKA2 NDUFAF3 RAI1 GTPBP3 CLCN4 USP9X SLC7A7 GAMT MT-TV PSAP GALC NEUROD2 GMPPB C12orf65 TRIM8 SCN1A MAN1B1 LRP5 SLC19A3 SRD5A3 GM2A POMT1 ASXL3 PGAP3 PRMT7 ARX UBTF CWF19L1 SON MT-ND5 PSAT1 SCN1B SPATA5 EFL1 PGAP2 NAGS PIGV ASAH1 MAF LARGE1 HP_INTRINSIC_HAND_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRINSIC_HAND_MUSCLE_ATROPHY KLHL9 RYR1 CAV3 NGLY1 TIA1 FLNC SQSTM1 HARS1 DYSF HINT1 VCP LDB3 HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS RYR1 ADSS1 HK1 DYSF TIA1 VPS13A FLNC MORC2 SQSTM1 HSPB3 MME TTN HARS1 GMPPB HP_TIBIALIS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIALIS_MUSCLE_WEAKNESS TTN C12orf65 DYSF GNE MYH7 HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS CAV3 PYGM ATP2A1 PHKA1 SLC16A1 HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES MYL2 PLIN1 SGCB TTN DYSF TCAP ANO5 CIDEC POMGNT2 MTMR14 FKRP ACTA1 CRPPA PMP22 SLC25A1 POMT1 DNM2 LTBP4 LMNA CAPN3 CHCHD10 SGCA DAG1 TPM2 FKTN MAP3K20 BIN1 DMD LIMS2 AR SGCG CLCN1 CAV3 KCNA1 MYF6 POMT2 TPM3 GMPPB LAMA2 HACD1 PLEC FRG1 ITGA7 SRY SELENON RYR1 SGCD DPM3 LARGE1 HP_LEG_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEG_MUSCLE_STIFFNESS DARS2 DNAJC6 KIF1A SYNJ1 ATP13A2 MT-ATP6 ANO10 VAMP1 SPAST PODXL KIF5A ZFYVE26 LDB3 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS TRIM32 DYNC1H1 CRPPA DMXL2 MYH7 TWNK DYSF POLG2 TCAP ANO5 MTMR14 MYF6 MFN2 FLNC CHCHD10 TTN EMD FHL1 LMNA DNM2 ADSS1 TMEM43 ATP7B REEP1 LIPE SLC25A4 VMA21 POGLUT1 MORC2 RRM2B RYR1 SMN1 BIN1 SYNE2 PIGN POLG SYNE1 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS CRPPA CHRND SCN4A RAPSN DOK7 DYSF TCAP ANO5 COL13A1 MTMR14 CHRNE KY MYF6 MFN2 CHCHD10 MUSK EMD LDB3 FHL1 AK9 LMNA POMT1 DNM2 ADSS1 TMEM43 LIPE CHRNA1 FBXO38 MORC2 LRP4 AGRN RYR1 BIN1 CHRNB1 SYNE2 GMPPB MYH7 SYNE1 HP_HYPOPLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_MUSCULATURE MAP3K7 SALL4 COLEC11 FBN2 SLC16A2 CAV3 RBM8A ATP6V0A2 GLE1 MYMK FLNA HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES CHRND SCN4A RAPSN DOK7 CAV3 COL13A1 STIM1 CHRNE MUSK HINT1 LDB3 KLHL9 AK9 NEB CHRNA1 FBXO38 LRP4 AGRN DYSF CHRNB1 VCP HP_EXERCISE_INDUCED_MUSCLE_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE TRAPPC11 SCN4A GATA4 KCNJ18 NR2F2 SLC16A1 DBH AMPD3 GATA6 KCNE3 AMPD1 PGK1 CACNA1S GABRA3 CRELD1 HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS FRG1 VDR CAPN3 PTEN GYG1 SMCHD1 CYP27B1 MAP2K2 NF1 MYH7 SKI HP_INCREASED_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CONNECTIVE_TISSUE MC4R LMOD3 PLEC TNXB LIMS2 TCAP ANO5 NEB ACTA1 KLHL40 AKT2 NEFL LMNA RYR1 KLHL41 MT-TK DYSF AIFM1 POLR3A LIPE TNPO3 COL6A2 PCSK1 INPP5K POMC MAP3K20 LAMA2 HP_FOOT_DORSIFLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_DORSIFLEXOR_WEAKNESS PMP22 CRYAB KLHL41 KARS1 TCAP ACTA1 SMCHD1 C12orf65 AARS1 MPZ NEFL TRPV4 KIF1B TIA1 HINT1 POLG FHL1 TTN MARS1 LRSAM1 NEB SACS DYSF FA2H SBF2 LRP12 ORAI1 MORC2 CFL2 SQSTM1 MME GDAP1 EGR2 SIGMAR1 PNPLA2 VCP MYH7 TYMP BSCL2 LMOD3 MFN2 IGHMBP2 COX6A1 MPV17 RAI1 TPM2 TBCE LYST COA7 PRX INF2 MCM3AP ATP1A1 ALDH18A1 FLNC DMPK RRM2B LDB3 GJB1 SPG11 ADSS1 SCO2 LBR DES LMNA GNE MYOT DNAJB2 GYG1 SLC25A21 RAB7A HSPB1 HP_EXERCISE_INDUCED_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS ACADVL RYR1 ACADL PYGM CACNA1S HP_DIFFICULTY_RUNNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_RUNNING DYNC1H1 RYR1 GMPPB BICD2 TPM2 DYSF TCAP STIM1 SGCG MYPN ANO5 KY MFN2 MICU1 FLNC PYROXD1 GFPT1 ALG2 TPM3 PEX2 DPAGT1 MEGF10 SPEG KCNC3 COL12A1 ADSS1 FKRP KBTBD13 REEP1 PNPLA2 TTN FBXO38 TNPO3 VMA21 BIN1 MORC2 ALG14 MT-TE HP_PERONEAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERONEAL_MUSCLE_ATROPHY TRPV4 SACS WASHC5 TTN LMNA DES HINT1 HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT MSTO1 MT-TE PHKB PYGM TRMU PFKM ENO3 HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS MYO9A MAPT GARS1 HK1 TCAP ANO5 MT-ATP6 PNKP VAMP1 COL13A1 C12orf65 AGRN SNAP25 FGD4 HSPB8 CHCHD10 CHAT HARS1 LMNA HINT1 BSCL2 SARDH DES PNPLA6 SLC18A3 EXTL3 DYSF GNE MORC2 MME GMPPB MYH7 PMP22 TTN SCYL1 ATL1 TRPV4 MFN2 FLNC TPM3 HSPB3 PLEC SLC5A7 IBA57 ADSS1 TDP1 SYT2 SLC25A1 HSPB1 CPT1C REEP1 HP_GENERALIZED_LIMB_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY ACTA1 DARS2 LEMD3 SGCD SCO2 KBTBD13 TPM3 NEB TPM2 PUS1 MYPN YARS2 SCYL1 MYH7 PNPLA6 KLHL41 PNPLA2 GMPPB HP_INCREASED_MUSCLE_LIPID_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_LIPID_CONTENT MSTO1 ACTA1 SCN4A COX20 COA3 SDHD SCO1 KCNJ18 NEB MYPN COX6B1 ABHD5 COA8 KCNE3 KLHL41 ISCU CHCHD10 TTN CACNA1S COX14 TACO1 COX8A MT-TE SELENON MT-TN TRMU KBTBD13 COX10 MYH7 CPT2 TPM3 PNPLA2 TPM2 SDHAF1 PET100 AFG3L2 COQ8A SDHA GABRA3 HP_INFANTILE_AXIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_AXIAL_HYPOTONIA RNU12 GRIN2A RARS1 GM2A GFER EXTL3 RTTN PSAP GALC PSAT1 MAN2B1 RYR1 TUBB3 SLC39A14 HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS KLHL9 HADHA TRPV4 CRYAB CAV3 HADHB MYOT MYH14 PNPLA2 NEB LDB3 HP_GENERALIZED_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIPODYSTROPHY LMNA ZMPSTE24 KCNJ6 CAV1 BSCL2 HP_DECREASED_ACHILLES_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACHILLES_REFLEX FBXO38 IBA57 ADSS1 CRYAB DYSF MYH7 LDB3 HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS COL6A3 CRYAB COL12A1 BSCL2 MT-TL2 COL6A2 FOS ABHD5 LDB3 PLEC TRAPPC11 MT-TL1 MT-TN AGPAT2 CAV1 NEB TK2 COL6A1 PPARG CAVIN1 PYGM ANO5 MT-TE PNPLA2 DYSF MYOT HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES CHRNE CHRND AK9 SCN4A RAPSN DOK7 NEB COL13A1 GNE CHRNA1 TIA1 LRP4 AGRN SQSTM1 MYH7 MUSK CHRNB1 HINT1 LDB3 HP_ALVEOLAR_RIDGE_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RIDGE_OVERGROWTH BRF1 RBM10 TBX15 OFD1 DHCR24 CD96 HP_SPEECH_ARTICULATION_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_ARTICULATION_DIFFICULTIES NECTIN1 GNAI3 MAPT MSX1 TP63 PLCB4 IRF6 FOXP1 DLX4 GRHL3 UBB STAG2 GABRG2 SRPX2 BMP4 CDH1 DLG1 GRIN2A GALT ARHGAP29 HP_CHRONIC_ORAL_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ORAL_CANDIDIASIS DCLRE1C ZAP70 IL2RG TFRC CD3E CARD9 JAK3 CD3D CD247 HP_MEDIAN_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_PALATE DVL3 FZD2 PTCH1 GLI2 SLC2A10 LHX4 HESX1 LBR TGIF1 DVL1 SIX3 PROP1 OTX2 FOXA2 WNT5A ALX3 FAM20C POU1F1 ZSWIM6 HP_ANTERIOR_OPEN_BITE_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION KCNH1 RELT GNAI3 DSPP KCNN3 KLK4 ENAM ATP6V1B2 ITGB6 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS ABCC9 IDUA RSPO2 CCDC8 CANT1 PORCN RSPRY1 WNT3 CEP120 NSD2 ERCC6 CUL7 TBX15 WNT7A COL2A1 SLC26A2 SLC39A13 INPPL1 LETM1 SETBP1 CFAP410 PIK3C2A SHOX MATN3 CHST3 AIFM1 IFNGR1 MMP9 SLC10A7 EXOC6B B3GALT6 PEX5 FN1 CHD4 TMEM67 OBSL1 RUNX2 INTU KAT6B NSDHL NANS COMP COL11A2 TRAPPC2 ERCC8 DDRGK1 NELFA TRAF3IP1 IFT140 XYLT1 IHH TRPV4 POP1 CTC1 POC1A BMPR1B FGFR3 HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE ABCC9 LETM1 CCDC8 SETBP1 INPPL1 COL2A1 OBSL1 NSD2 MATN3 INTU CUL7 KAT6B TBX15 COL11A2 WNT7A NELFA HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE NKX3-2 COL2A1 FGFR2 GSC RUNX2 HP_ABNORMAL_PELVIS_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION LBR COL2A1 FGFR2 DYNC2H1 GSC CTSK RUNX2 WDR35 NKX3-2 WDR34 IFT80 WDR60 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 CSPP1 KIAA0586 UFSP2 FLNB RNU4ATAC B3GALT6 DYM LBR 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 IDUA TMEM67 CANT1 RSPRY1 RUNX2 COL2A1 NANS COMP SLC26A2 SLC39A13 TRAPPC2 DDRGK1 TRAF3IP1 IFT140 CFAP410 PIK3C2A SHOX XYLT1 IHH CHST3 AIFM1 IFNGR1 MMP9 SLC10A7 EXOC6B TRPV4 B3GALT6 POP1 CTC1 PEX5 FN1 MATN3 POC1A BMPR1B CHD4 FGFR3 HP_DIAPHRAGMATIC_EVENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_EVENTRATION STRA6 ASNS TRIP4 DNAJC19 MTM1 ARID2 PLOD3 IGHMBP2 LRP2 CHRNG HP_DIAPHRAGMATIC_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_WEAKNESS HMBS PMP22 MEGF10 COL6A2 TTN GAA COL12A1 COL6A1 TRPV4 COL6A3 TPI1 SLC52A3 MORC2 DMPK BAG3 IGHMBP2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON CTBP1 WNT10A PHF6 KCNAB2 ARHGAP31 TCOF1 FGFR3 RAB3GAP1 PTH1R UBE3B UPF3B FGFR2 COL2A1 TP63 DYNC2LI1 RAG2 BPNT2 ARHGEF6 KMT2A HCCS SF3B4 WDR35 CC2D2A COL11A2 PTCH1 NEB RUNX2 BPTF NUP133 EMG1 KCNK4 FGFR1 ARX PCYT1A MMP13 CEP57 ROR2 XRCC4 RAB33B PIEZO2 GNAS BCOR IFT43 RMRP LMBR1 ESCO2 PHYH MRAS SLX4 OCLN GLB1 POMGNT1 CHRNG KMT2D NFIX BUB3 DHODH NALCN SLC26A2 ATRX WDR60 TRIP11 GHR FANCI PEX7 BRF1 FBXO11 RAB18 PHGDH EVC2 SEC24D TBC1D20 FBXL3 TOE1 GDF5 SOX9 SALL4 EBP ACAN MAGEL2 LTBP4 IFT80 UFD1 LETM1 SNORD115-1 CTC1 SH3PXD2B TBCE ATP6V1B2 SH2B1 FLNB FANCE TRPV4 PKHD1 EP300 ALX3 VANGL1 ANKRD11 EXTL3 DEAF1 GNAS-AS1 SIN3A CUL7 PDE4D WDPCP TBX4 PLK4 ACTG2 PIGP DOK7 TWIST1 BMPR1B FANCL SMAD4 NPR2 ERCC3 EFTUD2 DCHS1 MAFB PEX5 DNMT3B NANS BCR IQSEC2 CRIPT DOLK CREBBP DNAJC21 SLC25A1 MATN3 EZH2 NSD2 ADAMTS10 PEX2 FZD2 TNNT3 MAD2L2 ZMPSTE24 MED12 GRIP1 ARSL NBAS SPART HINT1 VPS13B HDAC6 RAF1 DYNC2H1 KCNA1 PEX13 SMARCE1 ALPL SLC18A3 CHSY1 NEK1 NAA10 USP7 BDNF HUWE1 RFWD3 PIGN PIGT RPL10 RIT1 NOG TRAIP TUBB LMNA TNNI2 CDC45 XYLT1 TCF4 TNFRSF11A FAT4 ERCC5 PRKAR1A TAPT1 CDC6 RECQL4 DNMT3A BRCA2 PALB2 PDE6D ASAH1 ABCC9 ASNS COL13A1 NSDHL ACTA1 MNX1 MYO18B RTTN SC5D STXBP1 EIF2AK3 A2ML1 GPC6 WNT10B MAPK8IP3 SMARCD1 COL6A2 RPS6KA3 CCDC28B ZNF335 PIGL TPM2 SHOX AMER1 TUBB3 PRDM16 HSPG2 DYM TBCK GMNN IFT52 HYOU1 BHLHA9 CANT1 PDE3A RREB1 IFT140 HOXA13 SELENON LBR PAH WASHC5 SCN2A TMEM216 EOGT TMCO1 ALG12 PEX19 SEM1 TRMT10A TONSL NXN TBX5 GALNS MBTPS2 IGF1 DONSON ANTXR2 HELLS ADGRG6 SMARCB1 PPP2R3C TAB2 PSMD12 CNTNAP1 SLC25A24 CNKSR2 GNPAT AEBP1 RIPK4 LIFR DNAI1 MAB21L2 BCL11B PIK3CA CENPF CCBE1 SHH ATP7A ZDHHC9 GP1BB RHOBTB2 REV3L P4HB ERCC1 RAD51 PTCHD1 ACSL4 CERT1 EDA PEX11B KIAA0586 PCNT COL3A1 ADAT3 LIG4 HOXD13 ERCC6 WDR19 CENPJ SMC3 EPG5 KYNU APC WDR26 BRAT1 ERGIC1 BRAF CRKL EXOC6B FAM20C HOXB1 PIGO TBX22 RLIM ACTB RAD51C TRPS1 GNPTAB PAK3 VANGL2 PITX1 TBX1 TBL1XR1 CD96 DPH1 OFD1 SETD5 COL11A1 MYL2 LZTR1 CCDC22 IL2RG FLNA WNT5A COL6A3 BTRC IDH2 KDM5C FBN1 DHCR24 PIGW DMD SLC35A3 CDK10 AHDC1 TGFBR1 FUZ SLC25A19 RRAS ZSWIM6 KIF7 CUL4B NDUFB11 ANKLE2 BUB1B RAI1 RPL11 IGFALS IHH ANTXR1 KDM6A TBX3 KLHL41 OSGEP PPM1D PIGY LRP4 GLI3 PDGFRB LIMK1 B4GALT7 PRRX1 RPS28 KIFBP AFF4 MAPRE2 AMMECR1 ARL6 ELN CTSK DPM2 CEP55 POLE ATR FGFRL1 FUT8 IFT122 CHST3 ORC6 WDR4 CDKL5 CHRNA1 TBX15 SLC5A7 HMGA2 TWIST2 POLR1D SPECC1L IL1RAPL1 SRCAP TBCD MYMK DOCK6 ZC4H2 MYSM1 DZIP1L OTX2 MYF5 PLAGL1 SOX2 SKI MIR140 DLL4 RERE NDN MAPK1 MASP1 B9D1 EXT1 CTU2 MYH8 FANCB INPPL1 HNRNPH2 CPLANE1 TSPAN7 KAT6A C2CD3 POLR1C WNT7A STAMBP LEMD3 TRAF3IP1 LMX1B ADAMTS2 SOS2 PIGV NUP88 MYO9A PEX14 ACP5 ERCC4 DMXL2 INPP5K BICD2 MTOR C1S IRF6 FUCA1 BMP2 ACVR1 ZBTB24 NELFA NECTIN1 GGCX NSUN2 TRRAP DDR2 PIK3R1 BRCA1 EMC1 CSPP1 DPM1 IDUA TCTN2 TARS1 ZNF711 FLVCR2 SON NUP107 SP7 CFAP410 GDI1 RBPJ PIK3C2A RAB3GAP2 PIEZO1 EFNB1 NSD1 PTHLH EFEMP2 BUB1 TFAP2B USP9X INTU HDAC4 COL1A1 SATB2 RAG1 CEP120 IGF1R RSPRY1 TRIP4 PGM1 KAT6B RBM8A SPRTN FTSJ1 GJA1 FGF9 COX7B PTEN COG4 LMOD3 CENPE RFT1 CXorf56 SCARF2 TCTN3 FRAS1 UBE2A FANCF HYLS1 SPRED1 SFRP4 RSPO2 FANCG PPP3CA KCNH1 HDAC8 NIPBL TBX6 YY1 ASXL1 IL7R SLC2A10 ANK1 APC2 MSX1 PIGA AIFM1 TPRKB SLC39A13 MCM5 FGF3 NRAS PTDSS1 NIN CBL HACD1 RPGRIP1L TRIM8 MECP2 HERC2 SMO ADAMTSL2 FGF10 PUM1 DPF2 LOXL3 NOTCH2 DACT1 MBD5 SMOC1 PLXND1 EIF4A3 USP27X PPP1R15B KCNN3 RASA2 DHCR7 B9D2 COL12A1 PSPH ZBTB16 TMEM67 BMPR1A KIAA0753 MYPN PQBP1 KCNJ8 ORC4 KDM1A CRLF1 WDR73 STX16 COL9A3 DPYD TP53RK PTPN11 CTDP1 FBXL4 EPS15L1 MSX2 TRIO TGDS ERMARD PEPD AXIN2 BRIP1 FERMT1 VAC14 CCNQ PUS1 BGN FKBP10 NBN CWC27 PEX3 CDT1 PYROXD1 HPGD PSAT1 GLE1 DLX6 KPTN EVC RPL26 EED DLX5 AGPS ARID2 PAPSS2 HBA2 LMNB2 ALOX12B POLR1A CLCN4 HAAO NEK9 KRAS ARID1B COMP GPC3 EDA2R RRAS2 OSTM1 SIX1 LTBP3 CHD7 GSC BANF1 PPIB PEX1 MYH3 LGI4 NCAPG2 PI4KA HRAS RNF113A SETBP1 SLC35A2 TFAP2A SEMA3E PIGQ CHST14 CHRND RPGRIP1 GATAD2B EDNRA COL6A1 PEX10 MAP3K7 WRN DVL1 AGA RAD21 NEDD4L TGFA CEP290 CASK FLCN FANCA MMP9 KLHL7 PEX12 DSE ARSB CHUK RAB23 VARS1 GEMIN4 TSEN54 TAF1 XRCC2 TENT5A HYMAI SSR4 CRTAP OCRL ACTL6B ALX4 ATAD3A HSD17B4 DCLRE1C GTF2IRD1 COG8 WT1 GPKOW MIR17HG FANCM AGRN GPC4 C12orf57 DIS3L2 SNRPN CLIP2 ERCC2 COMT PAX9 SIL1 CLCN7 PLAA PCGF2 NOTCH1 HIRA TGFBR2 PLA2G6 SRY CPLX1 RAC1 GNAO1 TMEM107 WDR34 ZNF41 SOS1 TBC1D24 GNAI3 WNT3 MKS1 KCNK9 SIX6 FGD1 GATA4 SYP SLC9A7 STRA6 PWRN1 LFNG RPS26 CILK1 COL1A2 SLC35C1 TPM3 ALX1 ERBB3 NSMCE2 POLR3A CCL2 CCDC8 RNU4ATAC GLUL MGP CEP152 IFT172 NGLY1 PEX16 COASY HHAT SLCO2A1 B3GALT6 ZIC3 B3GLCT SALL1 HCFC1 PUF60 WASF1 MSTO1 TXNL4A LAS1L DDRGK1 ALDH18A1 LAGE3 SLC39A8 GABBR2 TRIM37 MACROH2A1 FANCC SEMA5A COG1 NFASC P3H1 IFT57 ALOXE3 KCNJ2 MYH7 FANCD2 IKBKG COL10A1 ADA DVL3 SUMO1 BAZ1B COL9A1 UBA1 RBBP8 ACTG1 JAG1 PLCB4 EDARADD MAP2K1 MUSK KIF15 ATRIP TTC21B SPEG IRX5 ZBTB20 ECEL1 IFT81 CDCA7 EXT2 SMC1A ALG13 AKT1 GBA CTNND2 ALG1 NKX3-2 POP1 ALG9 COL9A2 POC1A FLII FRMPD4 PNKP SNORD116-1 MYOD1 BBS1 GPX4 CHAT ARL6IP6 SERPINH1 PHIP GABRD TBXT SUMF1 NOTCH3 DPAGT1 SNRPB SETD2 RPS19 TGFB1 SCN1B SUFU ZNF81 DSTYK CCDC47 TMEM231 FMR1 MPLKIP TRAPPC2 FBN2 COG7 PWAR1 MET C1R PORCN RAB39B KIF14 SLC6A17 DYRK1A SOX11 PEX6 TELO2 DNA2 SNIP1 SLC25A22 SMARCA2 MMP2 FLI1 MEGF8 MCTP2 ARVCF MID2 HBA1 SLC35D1 VPS33B CREB3L1 UBE2T EDN1 STAG1 RBM10 RFC2 SNAP25 IDH1 B2M MYCN JMJD1C ZBTB18 RPL5 TMEM70 AUTS2 KIF22 EYA1 BMPER CDH11 SOX4 B3GAT3 SIX2 ARID1A CSNK2A1 PTCH2 KCNJ6 CFL2 PIGS SEC24C NEUROD2 CDKN1C FN1 BMP4 SYT2 PRMT7 RB1 PGAP2 MEIS2 SHANK3 VAMP1 SMARCC2 STAG2 HESX1 YARS2 WIPI2 CLCF1 SLC10A7 GTF2H5 CHD4 CHST11 TSR2 INTS1 LONP1 YY1AP1 PEX26 NPAP1 TTN TRIP13 HTT CDK5 ABCA12 FIG4 GTF2E2 ZNF341 ORC1 HES7 OBSL1 CHN1 SMARCA4 LRP6 ITGA7 RARB SHROOM4 RAPSN ADNP FAM149B1 GATA1 GTF2I PAM16 TRPV6 KBTBD13 UNC80 IFNGR1 D2HGDH LTBP2 STAC3 SLC29A3 AGTR2 GLI1 PAX6 MKRN3 ARCN1 SCYL2 CLTCL1 ABCD4 NHS CAMK2G SIM1 PHF21A HNRNPU PAX1 DLG3 SIK1 TBL2 SIK3 POLD1 SUZ12 IGF2 RDH11 TCIRG1 KNL1 MITF DYNC1H1 MAP3K20 PGAP3 GUSB WDR81 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES DNAI1 MAP3K7 SFRP4 COL11A1 FUCA1 NOTCH2 AGA ALX3 RUNX2 SIX2 PRKAR1A CTSK FLNA PDE4D AMER1 TRIM37 ATRX ALX1 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 POLR1A CTBP1 GLI3 WNT10A HAAO NEB NEK9 LRP4 KCNAB2 TCOF1 ARID1B COMP RAB3GAP1 SOX9 RRAS2 OSTM1 UBE3B UPF3B BRIP1 COL2A1 SIX1 BPNT2 KCNH1 GJA1 CHD7 HSPG2 GSC BANF1 HCCS PEX1 SF3B4 WDR35 CC2D2A COL11A2 NFIX MYH3 LGI4 PTCH1 BPTF NUP133 NCAPG2 ATP7A EMG1 KCNK4 FGFR1 HDAC6 ORC6 PI4KA HRAS RNF113A SETBP1 RAI1 TFAP2A CEP57 ROR2 SEMA3E CHST14 CHRND RPGRIP1 CEP120 RAB33B GATAD2B PIEZO2 BCOR IFT43 HDAC8 EDNRA COL6A1 ESCO2 FGFR3 MRAS SLX4 PEX10 NEK1 NUP107 OCLN TAB2 GLB1 POMGNT1 CHRNG DVL1 INPPL1 AGA RAD21 NEDD4L TGFA BUB3 DHODH CEP290 CASK NALCN MBD5 SLC26A2 FLCN TPM2 COL11A1 ATRX FANCA WDR60 TRIP11 PEX12 DSE ARSB PEX7 BRF1 CHUK RAB23 VARS1 COG4 RAB18 GEMIN4 PHGDH TSEN54 TAF1 SEC24D XRCC2 TBC1D20 TMEM67 TENT5A OFD1 FBXL3 TOE1 HYMAI SSR4 SALL4 OCRL EBP WNT5A ALX4 ATAD3A HSD17B4 LTBP4 GTF2IRD1 COG8 UFD1 LETM1 FANCB SH3PXD2B WT1 GPKOW SH2B1 FANCM AGRN ZMPSTE24 PKHD1 XRCC4 C12orf57 EP300 DIS3L2 ALX3 VANGL1 ANKRD11 EXTL3 DEAF1 SIN3A CUL7 CLIP2 ERCC2 COMT WDPCP PLK4 ACTG2 PAX9 DOK7 ERCC3 PLAA EFTUD2 MAFB DCHS1 PEX5 PCGF2 DNMT3B HIRA TGFBR2 PTH1R PLA2G6 CRIPT SRY PTDSS1 CPLX1 CREBBP TMEM107 DNAJC21 SLC25A1 WDR34 SOS1 RERE EZH2 GNAI3 NSD2 RMRP WNT3 TRIO MKS1 TRPS1 PEX2 KCNK9 TNNT3 MAD2L2 SIX6 MED12 GRIP1 FGD1 GATA4 VPS13B RAF1 DYNC2H1 PEX13 ALPL SLC18A3 CHSY1 STRA6 NAA10 LFNG KMT2A BDNF HUWE1 ARX RPS26 PIGN RPL10 RIT1 CILK1 NOG ATR TRAIP COL1A2 TUBB LMNA TNNI2 XYLT1 TPM3 TNFRSF11A IGF1R ALX1 FAT4 ERCC5 TAPT1 ERBB3 IFT122 EVC2 NSMCE2 CDC6 POLR3A DNMT3A PALB2 WNT10B PDE6D P4HB CCL2 ASNS COL13A1 DHCR7 KLHL41 NSDHL GPC6 ACTA1 MNX1 MYO18B RTTN SC5D CEP152 IFT172 TCTN3 EIF2AK3 RECQL4 PEX16 A2ML1 COL6A2 COASY ZNF335 PIGL SHOX CPLANE1 RNU4ATAC B3GALT6 AMER1 B3GLCT TUBB3 PRDM16 ERCC1 FZD2 FLNB DYM MSTO1 TBCK GMNN HYOU1 PUS1 TXNL4A RREB1 LAS1L DDRGK1 IFT140 SELENON LAGE3 BMP2 COL12A1 PAH WASHC5 TMEM216 TMCO1 ALG12 TRIM37 PEX19 TRMT10A NXN TBCE GALNS SEMA5A IGF1 COG1 NFASC TBX15 HELLS ADGRG6 PSMD12 KAT6B KCNJ2 CNTNAP1 MYH7 FANCD2 GNPAT AEBP1 ZIC3 RIPK4 POLE DNAI1 DVL3 SUMO1 BCL11B TRPV4 BAZ1B PIK3CA CENPF UBA1 DYNC2LI1 SMOC1 ZDHHC9 ACTB GP1BB RHOBTB2 REV3L ACTG1 FLNA RAD51 CRLF1 EDA PLCB4 COL9A3 PEX11B KIAA0586 PCNT COL3A1 ADAT3 LIG4 HOXD13 TWIST1 ERCC6 CENPJ EDARADD MAP2K1 SMC3 EPG5 PTEN HYLS1 APC MUSK WDR26 BRAT1 ATRIP ERGIC1 BRAF TTC21B SPEG IRX5 FAM20C ECEL1 IFT81 POLR1D CDCA7 HOXB1 PIGO DPH1 SMC1A AKT1 RLIM GBA RAD51C PUF60 KRAS GNPTAB RSPO2 VANGL2 CTNND2 ALG1 NKX3-2 TBX1 TBC1D24 CD96 ALG9 POC1A FLII SETD5 CHRNA1 MYL2 LZTR1 CCDC22 MYOD1 KIF7 COL6A3 EXT2 CHAT ARL6IP6 SERPINH1 CDT1 RBBP8 FBN1 DHCR24 PIGW PHIP PRKAR1A CANT1 SLC35A3 GABRD TBCD TBXT CSPP1 AHDC1 SUMF1 TGFBR1 NOTCH3 DPAGT1 FUZ SLC25A19 RRAS NDUFB11 ANKLE2 BUB1B IGFALS SNRPB SETD2 RPS19 ABCC9 IHH ANTXR1 IDUA TBX3 SUFU DSTYK OSGEP GLE1 PIGY PDGFRB TMEM231 LIMK1 MPLKIP B4GALT7 PRRX1 RPS28 TRAPPC2 FBN2 FANCL AFF4 MAPRE2 AMMECR1 MAP3K7 COG7 ELN DPM2 CEP55 C1R PORCN ATP6V1B2 KIF14 FGFRL1 WDR4 RUNX2 DYRK1A SLC5A7 PEX6 TELO2 HMGA2 DNA2 TWIST2 MMP2 KDM5C SRCAP MYMK ZC4H2 FLI1 DZIP1L OTX2 MYF5 C2CD3 PLAGL1 PQBP1 SOX2 SKI MIR140 MCTP2 ARVCF COL9A2 B9D1 EXT1 CTU2 HBA1 MYH8 DONSON PTPN11 IQSEC2 SLC35D1 HNRNPH2 VPS33B KAT6A POLR1C LEMD3 UBE2T EDN1 ADAMTS2 SOS2 STAG1 COL10A1 PIGV NUP88 RBM10 MYO9A PEX14 RFC2 ERCC4 SNAP25 BICD2 GPX4 C1S IRF6 FUCA1 MYCN JMJD1C MECP2 ZBTB18 RPL5 TMEM70 ACVR1 GHR AUTS2 BRCA2 ZBTB24 NELFA NECTIN1 NSUN2 TRRAP DDR2 PIK3R1 MSX2 BRCA1 EMC1 DPM1 EYA1 BMPER TCTN2 TARS1 FLVCR2 B3GAT3 SIX2 SLC25A24 KDM6A SP7 CSNK2A1 RAB3GAP2 PIEZO1 CDC45 EFNB1 NSD1 PTCH2 KCNJ6 EFEMP2 CFL2 BUB1 PPP1R15B SATB2 INTU SPECC1L SEC24C COL1A1 FN1 BMP4 FGFR2 SYT2 DOCK6 RB1 PGAP2 LIFR FANCE SHANK3 TRIP4 VAMP1 PGM1 STAG2 IFT80 RBM8A RFWD3 SPRTN PSAT1 YARS2 COX7B CLCF1 SLC10A7 TBX5 NIPBL GTF2H5 CHD4 LMOD3 CENPE RFT1 TSR2 INTS1 FRAS1 FANCF LONP1 PEX26 TTN TRIP13 CDK5 SPRED1 FIG4 GTF2E2 SFRP4 ZNF341 TP63 FANCG PPP3CA TBX6 YY1 ASXL1 SLC2A10 ANK1 FGF3 FANCI APC2 MSX1 ORC1 HES7 PIGA AIFM1 TPRKB LMX1B MCM5 NRAS CHN1 CBL LRP6 HACD1 RPGRIP1L ITGA7 SMO RARB RAPSN LBR LOXL3 NOTCH2 CHST3 PEX3 FAM149B1 PLXND1 WNT7A TBX4 EIF4A3 GTF2I PAM16 TRPV6 PIGT KCNN3 RASA2 KBTBD13 PDE4D UNC80 B9D2 PSPH COL9A1 D2HGDH BMPR1A STAC3 SLC29A3 KIAA0753 MYPN PAX6 ORC4 ARCN1 WDR73 SCYL2 CLTCL1 ABCD4 SIM1 DPYD TP53RK PHF21A CTDP1 HNRNPU PAX1 CTSK FANCC TBL2 TGDS POLD1 ERMARD PEPD AXIN2 SUZ12 IGF2 RDH11 VAC14 TCIRG1 KNL1 BGN MITF NBN CWC27 PYROXD1 MAP3K20 KPTN EVC PGAP3 EED GUSB ARID2 HBA2 HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN LMNA KRT5 SMS PCNT SASH1 ADAR UBE2A PIGN HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY CCL2 PLIN1 PIK3CA PDGFRB PHGDH MPLKIP INSR PSEN1 FGFR1 APC MYH7 FBN1 FKTN ANKRD1 PTEN SPRTN RAF1 ALB MYBPC3 ALG11 PPARG CASP10 TAZ MT-TP TNNI3 MT-TQ TCAP INPP5K LIPE GTF2H5 SYNE2 SLC29A3 ADA2 CDKN1B TXNRD2 AP2S1 CAV1 DOLK BANF1 MSTO1 DMD MT-TK ERCC8 ZSWIM6 LMNA GATAD1 AKT1 SAMHD1 VCL SPRED1 PRDM16 MT-TL1 POMC GTF2E2 FHL2 MEN1 RNF113A SYNE1 TRMT10A VDR ACTN2 TNNC1 BSCL2 LMNB2 MYSM1 CIDEC TAF1 TOP3A OTULIN WRN FASLG HAVCR2 TREX1 SLC25A24 FAS DES PSMB8 LAMA4 TMPO TNNT2 SLC2A2 MC4R ATP6V0A2 SDHC FOS KCNJ6 CDC73 RNASEH2B COL3A1 SDHA ERCC2 AGPAT2 PPCS CDKN1A PLN PMM2 ADAMTS2 TPM1 ACTB CAVIN1 CDKN2C LEMD3 TYROBP PORCN TREM2 MT-RNR1 FLCN ATP6V1A MYPN KLLN HAND2 BAG3 ERCC6 PSMB9 EMD ZMPSTE24 PPP1R15B ALX3 VANGL1 TMEM43 CRYAB NEBL ERCC4 PSEN2 TAF1A RBM20 RASGRP1 FLNA COL1A2 SCN5A PTF1A PRKACA BMPR1A ERCC3 ENPP1 AKT2 RPL10 FH CAP2 ADAR RBM28 ACTC1 GNA11 IFIH1 CDH23 VANGL2 MT-TF SEC23B MT-TH TBL1XR1 PIK3R1 PCSK1 LDB3 TARS1 SGCD ALMS1 CSRP3 KRAS KIF11 MT-TS2 DDOST POLD1 FHL1 SDHB ATP6V1E1 RNASEH2C TGFB1 CLMP POLR3A ABCC9 NAA10 PSMB4 USF3 ABCC6 TBXT RNASEH2A LCK MT-ND5 MFN2 COL1A1 FUZ IGF1R ALX1 DSG2 TTN SKI MYH6 PRKCD CDKN2B NEXN B4GALT7 USP8 SDHD FUCA1 SOX18 HP_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPODYSTROPHY PLIN1 CAV1 PDGFRB ATP6V1A BSCL2 MYPN PSEN1 HAND2 BAG3 PSMB9 FGFR1 MYH7 ATP6V0A2 FBN1 FKTN ANKRD1 SPRTN EMD RAF1 ALB ZMPSTE24 MYBPC3 PPARG TMEM43 TAZ CRYAB LMNA TNNI3 NEBL PSEN2 TAF1A TCAP RBM20 FLNA LIPE SYNE2 SLC29A3 SCN5A TXNRD2 DOLK BANF1 DMD AKT2 CAP2 ADAR ACTC1 IFIH1 CDH23 GATAD1 SAMHD1 VCL RBM28 PIK3R1 PRDM16 FHL2 SYNE1 LDB3 ACTN2 TNNC1 SGCD CSRP3 KRAS CIDEC DDOST OTULIN WRN POLD1 FHL1 LMNB2 TREX1 RNASEH2C CLMP POLR3A ABCC9 SLC25A24 DES PSMB8 LAMA4 KCNJ6 AGPAT2 PSMB4 TMPO TNNT2 ATP6V1E1 RNASEH2A CAVIN1 PIK3CA FOS IGF1R RNASEH2B DSG2 TTN COL3A1 SDHA PPCS MYH6 PLN PMM2 TPM1 ACTB NEXN B4GALT7 USP8 FUCA1 HP_INCREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ADIPOSE_TISSUE MC4R AKT2 MT-TK LMNA PCSK1 INPP5K POMC POLR3A 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 GNB1 PLIN1 DYNC1H1 SGCD MTAP NEB POMGNT2 FKRP FBN2 SLC13A5 LMNA TIA1 CRPPA KLHL9 PMP22 DNM2 LRSAM1 CNKSR2 CD59 SACS SLC1A2 PCCB GMPPB RRM2B WASHC5 TK2 EGR2 SYNE2 TYMP SALL4 BICD2 TRIM32 LIMS2 SCN8A MPZ MTRR PNPT1 C19orf12 SYNJ1 CLCN1 DNA2 WWOX TRPV4 DHPS TPM2 LAMA2 LGI4 TRAK1 HSPB3 KANSL1 DMD POLG2 AK9 SLC5A7 VPS13A KIF1A FHL1 NUP62 SIGMAR1 COLQ LIPE DAG1 MORC2 AKT1 SDHB MME GAN GABRA2 SYNE1 MYH7 FGFR3 KDM5C SCN4A POLG HK1 HSPB1 COL13A1 MYMK REEP1 TSEN2 PCCA GCH1 HNRNPA1 CACNA1B CHCHD10 PABPN1 GYG1 CHRNE KIF5A SARDH DNAJC6 DES CAPN3 ALDH18A1 DYSF LRP12 ATRX KDM1A TRAPPC11 IGHMBP2 BRF1 DDHD2 RYR1 PTPN11 RAI1 AR COA7 AAAS SGCG GALC KY NF1 PODXL LDB3 PLEC USP8 PPARG EBP ADSS1 SUFU FAM126A EEF1A2 KCNB1 GNE HNRNPDL ACTB COL6A3 SDHD ALG14 DDC NF2 ZFYVE26 CACNA1A DPM3 ALS2 SGCB DARS2 MYO9A RARS1 AP5Z1 SLC52A2 SDHAF1 C12orf65 AGRN SGCA GABRG2 SMO ACTA1 RAF1 SNAP25 CRYAB SLC39A13 BSCL2 DPAGT1 POU3F4 CLTC BAP1 TMEM43 POMGNT1 BVES EXTL3 SPG7 POMT1 CUL7 ORAI1 ALX3 NECAP1 FRMD4A SQSTM1 SZT2 FKTN POMK ZFYVE27 AARS1 INF2 MCM3AP STIM1 UBA5 CAV3 ERLIN2 DMPK AMPD1 DKK1 YWHAG SRY MFN2 PAX1 CEP126 AMPD3 SLC25A1 PARS2 ARSI LRP4 ALG2 EMC1 MYH2 DNAJB6 MAPT GARS1 HSPD1 KCNA2 POMT2 FLNC MTMR14 HSPB8 SPART HINT1 MT-ATP6 LTBP4 BRAF MYPN KIDINS220 POLR3A SLC18A3 CHRND MTPAP TTN SBF2 SLC52A3 CFL2 PIGN FGF12 DNAJC12 DHDDS KCNJ18 ADCY5 GMPPA NIPA1 ANO5 NGLY1 ATL1 TPM3 GFPT1 ALX1 EYA1 PYCR2 GJB1 HCN1 SYT2 HADHB ATP6V0A2 LAMB2 DNM1L RTN2 SLC25A4 FBXO38 SLC25A21 SYNGAP1 CHRNA1 OPA1 CCDC8 DNM1 KLHL41 KARS1 SH3TC2 PNKP VAMP1 SCN3A GBA2 DDHD1 GDAP1 ACTL6B ALG11 HADHA ATP6V1A TBX5 SPATA5 CHRNB1 LMOD3 DMXL2 PHYH CAV1 MATR3 ATP1A1 PIK3CA NCAPD3 MYF6 SPG11 WARS2 SBF1 SPEG SELENON NTRK2 LBR TBX3 SPAST TNPO3 VMA21 ABCD1 RAB7A POGLUT1 PRNP PIGP RAPSN SLC12A6 TCAP ADAR SEPTIN9 HOXA13 MUSK CAPN1 TARS2 AFG3L2 RNASEH1 FXN COL12A1 MARS1 VPS37A KCNJ2 TWNK MYH14 COL6A2 LMX1B CYP7B1 DCTN1 SPG21 MAP3K20 PNPLA2 BIN1 COX6A1 FLNA OBSL1 DOK7 WDR48 DGUOK PDGFB ANO10 CYFIP2 ABHD5 HACD1 TRAF7 ITGA7 FGFR2 SCO2 FGF10 AP3B2 PLOD3 MYOT RHOBTB2 REV3L UBTF KATNB1 STXBP1 TRIP4 NUS1 CPT1C PDK3 TERT GRIN2D NEFL PLXND1 SDHA FGD4 HARS1 EMD FLI1 CACNA1S PNPLA6 ATP7B KBTBD13 ATP13A2 PIEZO2 SPR PRX SLC33A1 SLC25A19 VCP MPV17 NEFH TBCE YARS1 SCYL1 ARV1 SLC6A3 FRG1 SMARCB1 IBA57 PAX3 MYL2 SMCHD1 PRPS1 CPLANE1 CIDEC COL6A1 PPP3CA NDUFA9 TRPS1 GABRB2 KIF1B CHAT FLNB RBM8A FA2H PEX7 MT-TE SMN1 COG4 LYST PSAP KCNA1 GABRA5 PYROXD1 SMARCE1 PLP1 TDP1 RPL11 DNAJB2 SLC30A9 PLAA DSTYK GABRA3 LARGE1 HP_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_AMYOTROPHY BSCL2 ALS2 PDK3 GARS1 HK1 MATR3 HSPB1 ANO5 FLNC CPLANE1 TRPV4 GDAP1 HARS1 TIA1 HINT1 SLC39A13 KLHL9 FXN DYSF CYP7B1 SLC52A3 DCTN1 MORC2 SQSTM1 KIF5A VCP MYH7 RYR1 NEFH CAV3 INF2 NGLY1 KY ACTA1 SPG11 LDB3 ADSS1 CEP126 GJB1 PLOD3 SLC25A21 REEP1 HP_HAND_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_MUSCLE_ATROPHY BSCL2 ALS2 PDK3 RYR1 CAV3 GARS1 NGLY1 TRPV4 FLNC ACTA1 SPG11 GDAP1 HARS1 TIA1 HINT1 SLC39A13 LDB3 KLHL9 FXN PLOD3 SLC25A21 SLC52A3 DCTN1 SQSTM1 DYSF VCP REEP1 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET MMP2 ZMPSTE24 MMP14 LMNA SCN9A WNK1 KIF1A NOTCH2 MAFB RETREG1 COL3A1 HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET DYNC2LI1 DYNC2H1 CTBP1 DHCR7 TMEM231 TMEM237 SMOC1 SC5D FAM149B1 KCNAB2 CEP41 TCTN3 SMO DDX59 CC2D2A ARL6 CIBAR1 NSD2 ARMC9 EXTL3 FGFR2 CCDC28B LMBR1 CEP55 B9D2 COMT WDPCP PORCN CPLANE1 TMEM138 HOXD13 PRDM16 FGFRL1 JMJD1C KIF7 KIAA0825 CEP120 KIAA0753 WDR60 CSPP1 HIRA RREB1 GLI1 EVC B9D1 CPLX1 IFT140 IFT172 CEP290 EBP TMEM67 MKKS TBX1 TMEM216 CD96 GLI3 PITX1 SHH TCTN2 RPGRIP1 INPP5E BMP4 MKS1 BBS2 RERE BBS1 KIAA0556 NEK1 PIK3CA DVL1 C2CD3 ROR2 PPP2R3C RPGRIP1L SETD5 ARVCF WDR34 ARL3 GABRD PIBF1 SKI RAB23 TCTN1 TFAP2B OFD1 EVC2 SEC24C ABCA12 WDR19 AHI1 ZSWIM6 TMEM107 NPHP3 ARL13B WNT5A HYLS1 GP1BB CEP104 DVL3 IFT80 UFD1 LETM1 PDE6D KIAA0586 MEGF8 ZNF423 PLAA LBR TTC21B HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS NOG MYH3 BHLHA9 GDF6 GDF5 FLNA BMPR1B GLI3 TNNI2 TNNT3 FGFR1 MAP3K7 OFD1 TBX4 ATP7A NALCN FGFR3 SMOC1 FLNB CHSY1 MKKS LMBR1 TPM2 POR FGFR2 FBLN1 HOXD13 FGF9 SALL1 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 RRM2B TK2 TWNK SLC25A4 POLG2 TYMP HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON PAX3 NIPBL RUNX2 TBX6 SIX6 GPC4 IKBKG ANK1 PTCH1 IFT57 RBM8A PUF60 GATA6 SKI ANKRD11 SOX2 DHODH SON PTCH2 ACTB GPC3 SUFU ZBTB16 MAF HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY PDGFRB SMARCAL1 IL12A LIMK1 RFC2 BICC1 LDLR ENG PCNT GANAB JAK2 PDGFB GTF2I KRAS STAT1 GDF2 SMAD3 NOTCH3 MFAP5 GCDH TGFBR3 MEFV ELN ACTA2 IL12A-AS1 CTLA4 MLX CTNNB1 PRKAR1A LMNA LOX IL10 GATA6 CLIP2 IL12B LDLRAP1 THPO STAT4 SH2B3 SCNN1B IL23R GATA4 TGFB3 CBS ERAP1 GLA SMAD4 CCR1 BRAF APOB BGN COL4A1 ACVRL1 PKD2 ADAR KLRC4 TGFBR2 IFIH1 FBN1 SAMHD1 PTPN22 COL3A1 TGFBR1 TGFB2 APP ABCG5 PKD1 TP53 MYH11 MPL PRTN3 CALR MYBPC3 GAA HLA-B FARSB GGCX SLC2A10 PRKG1 GUCY1A1 PIK3CA HTRA1 SLC20A2 TBL2 HOXA1 TREX1 ABCG8 PIK3C2A C4A RNASEH2C UBAC2 NR2F2 MYH7 IKBKG MYLK RNASEH2A BAZ1B SCNN1A ANGPTL6 PCSK9 NDE1 RNASEH2B MAT2A HLA-DPB1 ZMPSTE24 HLA-DPA1 TET2 PLOD3 TLR4 GTF2IRD1 SON ACTG1 FOXE3 THSD1 SCNN1G ACTB NAGS PIGA FAS CRELD1 HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER CTCF LIFR GJA1 PITX1 AUTS2 PIGL HOXD13 ZDHHC9 HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS PCNT FGFRL1 NF2 CTBP1 LETM1 CPLX1 NSD2 RPS6KA3 SALL1 HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY FGFR2 TWIST1 GDF5 COL2A1 CHSY1 HP_DEVIATION_OF_THE_3RD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_3RD_FINGER FGFR3 IHH FGFR2 GDF5 FGF10 HP_APLASIA_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_FINGERS FANCC FGFR3 SEMA3E DLX5 TBX5 NIPBL FANCD2 WNT10B SMOC1 FANCE FIG4 NEK1 WNT7A TRIO RECQL4 MEGF8 PSMD12 GJA1 ESCO2 VAC14 PORCN ZBTB16 RIPK4 FANCI RFWD3 FANCB SALL4 SF3B4 FANCA FANCL CHD7 BHLHA9 LMNA LMBR1 RSPO2 FGFR2 SLX4 DOLK ERCC4 FGF10 SHH RAD51C RPS19 SON RPL26 BMPR1B HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER BMPR1B GDF5 HOXA13 BMP2 TGDS HP_ULNAR_DEVIATION_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_FINGER NALCN LIFR GDF5 DACT1 DHCR7 MYH3 BMP2 TNNI2 TNNT3 RAB3GAP1 BMPR1B TBX22 FBN2 HOXA13 BCR MYMK ASXL1 TGDS WNT7A SALL1 MAP3K7 HRAS PAX3 SHOX RAB3GAP2 TPM2 CRKL SLC26A2 MYBPC1 KLHL7 CD96 HOXD13 MAPK1 FLNA HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER FLNA BMPR1B IHH GDF5 BMP2 TGDS HP_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_2ND_FINGER FLNA IHH OPA3 GDF5 BMP2 TGDS CHSY1 MED12 BMPR1B HOXA13 MED25 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 TWIST1 GLI3 LIMK1 PIGH NEK9 KCNAB2 WDR35 PAFAH1B1 FBN2 FANCL PTEN COMP LMBR1 TCF4 AMMECR1 KCNJ11 MAP3K7 COG7 GPC3 LIG4 ARL6 RRAS2 ELN ARID1B MYH3 PWAR1 BRIP1 MOGS TRPV4 ATR ATRX HOXD13 MED25 SMC1A SALL4 FGFR3 OPA3 IFT122 GJA1 PAX3 KMT2A ORC6 GDF5 DHPS CHRNA7 DSP EMG1 TELO2 ROR2 HMGA2 KCNK4 PI4KA IGF2 GATA4 SHANK3 SETBP1 RAI1 BMPR1B TFAP2A USP7 FGD1 SRCAP WDR4 BCOR CKAP2L ZC4H2 ESCO2 MRAS SLX4 NEK1 GPC4 L1CAM DVL1 SNRPB AFF2 RAD21 MCTP2 CEP152 BUB3 FANCA RERE KDM6B KDM1A KLHL7 NDN MAPK1 GCK MASP1 CTU2 IQSEC2 SKI RAB23 NOG XRCC2 UBR1 TNNT3 ABCC8 B3GLCT DLX3 NKX2-5 OFD1 CPLANE1 EXT2 NTNG1 ZFPM2 WNT7A FGFR2 LEMD3 UBE2T EBP GATA6 WNT5A MAGEL2 SHH PEX1 GTF2IRD1 COG8 KPTN SOS2 STAG1 FANCB SNORD115-1 RNF216 CEP57 FANCM RFC2 ERCC4 TBX1 RAB3GAP1 CCNQ XRCC4 BICD2 NALCN EP300 ALX3 ANKRD11 DEAF1 SIN3A SNRPN CUL7 CLIP2 GMNN TCF20 BMP2 EFTUD2 ACVR1 MAFB CNTN1 BCR RBM28 BRCA2 AKT1 CEP55 DVL3 CRIPT NSUN2 NAA10 CREBBP TMEM94 TRRAP LMNA HPGD CITED2 PIK3R1 BRCA1 BUB1B SOS1 EZH2 DYM PTPN11 GATA5 RAB18 MKS1 TRPS1 MAD2L2 MED12 PLK4 PPP2R1A YY1AP1 FLNA SH3PXD2B VPS13B RNU4ATAC RAF1 RAB3GAP2 CDC45 CHSY1 KIAA1109 EFNB1 CDC6 POLA1 PWRN1 BUB1 SATB2 BRAT1 PIGS RPL10 IHH ABL1 RIT1 CILK1 JAG1 TRAIP TFAP2B RUNX2 HDAC4 TNNI2 IGF1R BMP4 EVC ALX1 NPR2 EVC2 RB1 SLC26A2 TPM2 HDAC8 PALB2 PDE6D LIFR CCDC8 FANCE DHCR7 GDF1 PHGDH YWHAE KAT6B STAG2 TCTN3 RBM8A MYMK RFWD3 A2ML1 MAPK8IP3 SHOX CCDC28B DPAGT1 WIPI2 TBX5 AMER1 NIPBL SAMD9 ZIC3 PRDM16 FZD2 FLNB CHST11 PIEZO2 BHLHA9 CANT1 HOXA13 SEMA3E UBE3B FANCF LONP1 HOXA11 NPAP1 CHD7 TRIP13 RSPRY1 SMC3 PRKDC MACROH2A1 NXN TP63 BLM FANCG IGF1 DONSON PTRH2 TBX15 MLXIPL CDKL5 RBBP8 ADGRG6 CLCF1 FLT4 SALL1 MECP2 NUP37 FANCI KCNJ2 PIGN GABBR2 FANCD2 ORC1 LMX1B NRAS IKBKG SPECC1L SLC2A10 OBSL1 PCNT BAZ1B UBE3A NIN UBA1 CBL ASXL1 SMOC1 HERC2 TBX4 FGF10 REV3L NONO MECOM TRAPPC9 SOST PNPLA6 NKX2-6 CENPE MAF RAD51 LBR DACT1 MBD5 ATN1 FAM149B1 PLXND1 EIF4A3 GTF2I WDR19 IFT52 MAP2K1 HRAS RASA2 STXBP1 MUSK ATRIP BRAF CHST3 CRKL COG5 PIGL INS PTF1A SF3B4 KIF7 SLC9A7 CDC42 KIAA0753 KLF13 IFT43 TBX22 CENPJ RAD51C PQBP1 PACS2 PUF60 KRAS ORC4 MKRN3 PITX1 CRLF1 TBC1D24 CD96 ALG9 XYLT1 SIM1 FLII SETD5 PDX1 LZTR1 PACS1 C12orf57 SNORD116-1 BBS1 COL11A1 FANCC MGAT2 TRIO TBL2 TGDS CTCF TMEM216 HIC1 GJA5 GABRD MYBPC1 PTH1R BGN CDT1 RRAS SMAD4 MAN1B1 CUL4B 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 FGFR3 PDX1 NOG PTPN11 GLI3 PHGDH BCOR MKS1 IGF1 SNORD116-1 ESCO2 BBS1 FGD1 PITX1 EIF4A3 CLCF1 DVL1 KCNJ11 FLNA MAP2K1 ROR2 ARL6 SLC26A2 OFD1 TGDS CCDC28B SIN3A CHSY1 SNRPN PWAR1 TRPV4 ATRX ALX3 PWRN1 MED12 CPLANE1 SAMD9 NDN GCK INS SALL4 BGN SF3B4 IHH FLNB GDF5 BMP2 ABCC8 BMPR1B IGF1R SMAD4 ANKRD11 FGFR2 HERC2 WNT5A NAA10 BRAF NPAP1 FGF10 MKRN3 IFT122 MAGEL2 CRLF1 DVL3 PIK3R1 CD96 SNORD115-1 EZH2 HP_RADIAL_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_HAND SALL4 BGN PITX1 GLI3 SAMD9 EIF4A3 HP_ULNAR_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_HAND MAFB MAP3K7 RBM28 CILK1 PAX3 ALG9 COMP ADGRG6 MUSK LBR PEX1 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 FGFR2 MYCN TWIST1 BHLHA9 GDF5 BMP2 COL2A1 BMPR1B INTU RUNX2 KIF15 HOXD13 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 MYCN BHLHA9 GDF5 BMP2 BMPR1B INTU RUNX2 HOXD13 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 MYCN BHLHA9 GDF5 BMP2 COL2A1 BMPR1B INTU RUNX2 KIF15 HOXD13 HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE PRKAR1A KARS1 NF2 HRAS PRNP DKK1 COCH HP_ASTROCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOMA TSC1 IDH1 TSC2 APC ERBB2 NF2 NF1 POT1 IFNG MSH3 TP53 MLH1 CDKN2A MSH6 PMS2 BRCA2 IDH2 MSH2 HP_RETINAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HAMARTOMA MDH2 RET CCND1 SLC25A11 VHL TSC2 DLST SDHB SDHAF2 SDHD TSC1 PTEN AKT1 NF1 SDHA SDHC FH MAX KIF1B TMEM127 NF2 HP_APLASIA_HYPOPLASIA_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB FGFR1 ATP6V1B2 CTBP1 FANCD2 MGP FANCE PCNT PLXND1 LIG4 GDF5 UBE2T RECQL4 EIF4A3 LMBR1 MAP3K7 LRP4 SALL4 SETBP1 ACAN NSD2 DHCR7 SIN3A FGFR2 WIPI2 TBX5 NIPBL ZBTB16 PALB2 LTBP2 FGFRL1 SF3B4 BMPR1B FANCL CHD7 RPL5 CHST11 MAFB ACVR1 BHLHA9 FLNA PTCH1 NELFA FRAS1 HOXA13 RSPO2 CPLX1 NSUN2 COL2A1 KDM1A RAD51C FBN1 RIPK4 FIG4 SMC3 SETD5 FANCC TFAP2A FGFR3 NOG KCNH1 SEMA3E ADAMTS10 FZD2 IHH ESCO2 TRIO BCOR LETM1 PSMD12 RAD21 DHODH BRIP1 CANT1 PTCH2 VAC14 APC KMT2A FANCI RFWD3 FANCB FANCA CHN1 SHH SLX4 ERCC4 RPL11 FGF10 REV3L SMC1A RB1 RPS19 SON HDAC8 BRCA2 RPL26 SUFU TP63 LMNB2 MIR17HG HP_DEVIATION_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_THUMB SETD5 TFAP2A FLNB NOG DHCR7 BMP4 HDAC8 EFTUD2 NIPBL CDC42 ZC4H2 ESCO2 PTRH2 UBA1 MGAT2 GATA4 SIN3A HOXA13 EIF4A3 FLNA SMC3 CRIPT SLC26A2 LONP1 RAD21 FANCB ANKRD11 BRCA1 SMC1A CHSY1 FGFR2 KMT2A TP63 ZIC3 B3GLCT 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 LMBR1 CANT1 PPP2R3C BMPR1B GDF5 PAH KIF7 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 KCNH1 IHH FLNB GNAS SALL4 HOXD13 GLI1 BMPR1B PTCH1 FLNA GLI3 KIF7 MAP3K7 EP300 PPP2R3C SLC26A2 GDF5 PAH CREBBP FGFR2 LMBR1 CWF19L1 CANT1 PTCH2 CHSY1 SUFU 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 IHH FGFR3 BMPR1B FGFR2 RAB23 SIN3A FGF10 CHSY1 HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB IHH FGFR3 BMPR1B FGFR2 FGF10 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 MAP3K7 PTCH2 BMPR1B PTCH1 SUFU SALL4 FLNA 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 SETD5 FGFR3 NOG KCNH1 IHH SALL4 FZD2 ACVR1 PCNT GDF5 BMPR1B LMBR1 PTCH1 HOXA13 TRIO MAP3K7 SETBP1 FGFR2 RAD21 FGF10 SHH SMC1A CANT1 PTCH2 HDAC8 VAC14 FIG4 NIPBL SMC3 KMT2A SUFU FANCI FLNA HP_PARTIAL_ABSENCE_OF_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ABSENCE_OF_THUMB FGFR3 FGFR2 VAC14 LMBR1 FIG4 FGF10 TRIO SHH HP_SHORT_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHALANX_OF_THE_THUMB SETD5 NOG KCNH1 IHH SALL4 FZD2 ACVR1 PCNT GDF5 BMPR1B PTCH1 HOXA13 MAP3K7 SETBP1 RAD21 SMC1A CANT1 PTCH2 HDAC8 NIPBL SMC3 KMT2A SUFU FANCI FLNA HP_OSTEOLYTIC_DEFECTS_OF_THE_HAND_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYTIC_DEFECTS_OF_THE_HAND_BONES ZMPSTE24 FLNA LMNA PDGFRB RETREG1 ATL3 HPGD BANF1 WNK1 KIF1A NOTCH2 CTSK IFIH1 CTSC SCN9A COL3A1 HP_CARPAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_SYNOSTOSIS NOG NXN BMPR1B ESCO2 MAP3K7 RECQL4 FLNA LRP4 FGFR3 SALL4 PAX3 FLNB RBM8A POR APC GDF5 B3GALT6 FBLN1 DYNC2LI1 MYH3 EVC2 BHLHA9 HOXD13 GLI1 EVC HOXA13 SMOC1 ROR2 FGFR2 COL11A2 PITX1 CHSY1 ATP7A MACROH2A1 HP_CHILBLAINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILBLAINS IFIH1 TREX1 RNASEH2A SAMHD1 RNASEH2C ADAR RNASEH2B HP_ABNORMALITY_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIDIDYMIS EP300 DHH HNF1B CCND1 BTK UNG CREBBP SRCAP VHL NKX3-2 HNF4A HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS EP300 HNF1B CCND1 CREBBP VHL HNF4A HP_ADENOMA_SEBACEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMA_SEBACEUM SDHB KRAS TSC1 AKT1 MLH1 MSH2 MSH6 PIK3CA TSC2 HRAS SDHC KRT17 KLLN MEN1 SEC23B USF3 IFNG PTEN PLCD1 SDHD NRAS HP_DENTAL_ENAMEL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_ENAMEL_PITS TSC1 AMBN DLX3 ITGB4 COL17A1 ITGB6 HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION MBTPS2 TSC1 ATP2A2 SLURP1 TRPV3 CARD14 TSC2 IFNG KRT17 HP_BLADDER_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_NEOPLASM AXIN2 AAGAB DLC1 PLA2G2A RNF43 NTHL1 COL14A1 NRAS PTPRJ TP53 BUB1B TLR2 MLH3 PIK3CA DCC EP300 AKT1 FGFR3 RAD54B CCND1 FLCN MCC ODC1 PTEN HRAS BAX SRC APC KRAS CTNNB1 BUB1 RB1 PDGFRL AURKA ATP7A PTPN12 HP_NEOPLASM_OF_STRIATED_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_STRIATED_MUSCLE MC1R TSC1 PTCH1 PAX7 CEP57 SLC22A18 TSC2 NBN KEAP1 DICER1 NF1 PAX3 IFNG MLH1 NRAS BUB1B BUB3 TRIP13 MSH6 PTCH2 FOXO1 PMS2 BUB1 SUFU HRAS MSH2 HP_CARDIAC_RHABDOMYOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_RHABDOMYOMA TSC1 PTCH2 TSC2 PTCH1 SUFU IFNG HP_CEREBRAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HAMARTOMA TMEM216 TSC1 SOX2 OFD1 GLI3 TSC2 KIF7 SMO KIAA0753 SIX6 FAM149B1 CPLANE1 TCTN3 PDE6D IFNG HP_GLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOMA GLI3 IDH1 KRAS CHEK2 TSC2 ERBB2 APC NF2 NF1 POT1 C11orf95 PMS2 TSC1 IFNG TP53 TGFBR2 MLH1 BMPR1A EPCAM RELA MSH6 RPS20 BRCA2 IDH2 SEMA4A LRP5 NBN MLH3 MSH2 MSH3 CDKN2A SMO PMS1 PIK3CA FAN1 SETBP1 HP_ABNORMALITY_OF_THE_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTIHELIX RBM10 FGFR2 TWIST1 EFTUD2 TRIO EVC2 RAB3GAP1 KAT6B LIG4 EVC FOXG1 EYA1 AP4E1 NUP188 PAX1 NSUN2 GLI2 RAB3GAP2 KCTD1 FGFR3 XYLT2 FLNA SALL1 SLC16A2 PIGN HP_LARGE_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_EARLOBE DHCR24 ZEB2 PIGY CDH11 SMOC1 HRAS GJA1 PIK3CA EFTUD2 UGDH DOCK7 ELN NOTCH2 PHF6 SLC26A2 FGD1 EIF2S3 MLXIPL BRAF SETBP1 HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE PLXND1 TBX5 TBX3 MYMK REV3L HP_ANKYLOBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOBLEPHARON IRF6 TP63 RAX ERCC4 RIPK4 ERCC5 NAA10 FREM2 DDB2 ERCC2 XPC XPA BCOR ERCC3 HP_POPLITEAL_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POPLITEAL_PTERYGIUM IRF6 RIPK4 GPC6 CHRNG MYH3 BHLHA9 HP_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_PAIN ERLIN1 MT-TK TREX1 MME TGFB1 MT-ATP6 SPG7 ALDH18A1 MFN2 PRKRA FLI1 BSCL2 HP_LOW_HANGING_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_HANGING_COLUMELLA ZNF148 ZEB2 RAC1 EP300 AIMP2 CTNNB1 ATN1 TRIO CREBBP NOG ASXL3 CKAP2L THOC6 CDH11 GJA1 MGAT2 UBE2A 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 LIFR PIGY PHF6 CLCN4 ARID1A MGP SMARCC2 GPC4 WDR35 ARHGAP31 ARID1B GDF5 EIF2AK3 RECQL4 COMP FTSJ1 MAP3K7 SETBP1 SMARCD1 EDA2R SLC26A2 GJA1 RPS6KA3 CTSK UPF3B HHAT TRPV4 PIGL TP63 PORCN NIPBL HOXD13 COG4 DYNC2LI1 RAB39B HCFC1 FGFR3 IFT122 NOG ARHGEF6 KMT2A CHST11 SALL4 LMNA RUNX2 GMNN IFT52 PIEZO2 BHLHA9 COL11A2 PTCH1 FLNA PDE3A CXorf56 SOX11 IFT140 FRAS1 EVC HOXA13 LONP1 ROR2 COL2A1 BMPR1B TBX3 PTHLH FGFR1 ADAMTS2 ARX LMBR1 RAB3GAP2 IL1RAPL1 FIG4 SMC3 SMARCA2 KDM5C KCNH1 NXN RAB33B DOCK6 PRKAR1A IHH IFT57 SMARCB1 DVL1 KMT2D MEGF8 RAD21 MCTP2 KCNJ2 NFIX PIGN SLC25A24 CNKSR2 DLL4 MID2 SLC39A13 ABCC9 MAPK1 COL10A1 RIPK4 FANCI DVL3 RAB23 IL11RA RBPJ EVC2 SMARCA4 NIN TSPAN7 FBN1 DPYS SOX9 WNT7A MECP2 STAMBP PIGO EDA FGFR2 ACTL6B WNT5A RBBP8 FGF10 SHH DYM SMC1A PIGV DPF2 SH3PXD2B LBR MIR17HG PTCHD1 ACSL4 NOTCH2 JAG1 PCNT GATA1 EIF4A3 WDR19 ZMPSTE24 USP27X EXTL3 KIF15 PDE4D CHST3 CRKL GPX4 MTOR ZBTB20 NHS CLCN7 MYCN NPR2 BMP2 ACVR1 IFT43 ALG13 KAT6B NOTCH1 AGTR2 BCR PUF60 GLI1 IQSEC2 TGFBR2 TRPS1 PAK3 CRIPT GGCX PTDSS1 KCNJ8 DDR2 TBC1D24 ZNF41 POC1A SETD5 FRMPD4 SOX4 ZNF711 FZD2 DLG3 ARSL SMARCE1 EOGT SYP TRIO GDI1 PIGW RBM8A DMD SLC9A7 IGF2 CANT1 PTCH2 VAC14 PTH1R PIGS BGN TFAP2B INTU ARID2 XYLT1 CWC27 CCDC22 BMP4 USP9X KDM6A PGAP3 FLNB DNMT3A MED12 HDAC8 GPC3 PGAP2 TRIP11 SUFU ZNF81 HP_BROAD_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHALANGES_OF_THE_HAND TWIST1 FGFR1 DACT1 CHST3 GJA5 PSMD12 FLNB GPC4 G6PC3 ADAMTS10 LIG4 SMO RBM8A KIF22 FGFR2 AMMECR1 PTEN GPC3 EP300 SUMF1 GDF5 NXN EXTL3 FGF9 ZNF141 FGFR3 RNU4ATAC B3GALT6 GLI3 SALL1 BMP2 BMPR1A EZH2 HOXD13 FLNA RLIM CDKL5 SMARCA2 BPTF USP9X PRKD1 ADNP NSUN2 ROR2 COL2A1 CREBBP OTUD6B DVL1 IFIH1 MSX2 SNIP1 NSD1 ALX4 KCNH1 PACS1 TBX5 SRCAP GATAD2B GNAS B3GAT3 WDR19 GATA4 EED GJA8 ACAN MEGF8 SUZ12 FBN1 SETD5 MED12 COL10A1 SATB2 INPPL1 DVL3 RAB23 XYLT1 NOG PYCR2 EXOSC2 SMOC1 WNT5A IFT122 MEIS2 PUF60 HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND NOG BHLHA9 PTDSS1 IHH TFAP2B BMPR1B GDF5 CHRNG HOXD13 FGFR2 FGF9 CHSY1 MYH8 SLC26A2 MYH3 HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND TWIST1 FANCE GJA5 GPC4 G6PC3 FANCL GLI3 SMO UBE2T RBM8A RFWD3 LMBR1 MAP3K7 SALL4 GPC3 SETBP1 SLC26A2 NXN FGF9 BRIP1 FGFR2 MSX2 TP63 TBX5 KIF7 NIPBL PTEN SALL1 FGFR3 FLNB BMP2 RUNX2 SF3B4 HOXD13 PTCH1 FLNA BPTF USP9X HOXA13 FANCF ADNP ROR2 COL2A1 BMPR1B PAH EP300 CHSY1 SNIP1 FIG4 SMC3 FANCC NOG KCNH1 SRCAP FANCG GNAS SLX4 ESCO2 SUFU DVL1 EED PPP2R3C NUP107 MEGF8 FANCI RAD21 RPL15 FANCD2 FANCA INPPL1 BHLHA9 DVL3 ATP6V1B2 RAB23 CHN1 NAA10 XRCC2 SIN3A BCOR SHH EXOSC2 SMOC1 WNT5A FGF10 SMC1A ACTG1 FANCB MED12 RAD51 FGFR1 DACT1 CHST3 FANCM ERCC4 PSMD12 PCNT LIG4 SUMF1 GDF5 KIF15 MYCN BMPR1A EZH2 RPL5 MAFB ACVR1 GLI1 RLIM RAD51C BRCA2 PRKD1 NSUN2 CREBBP OTUD6B DDR2 TBC1D24 BRCA1 NSD1 ALX4 SETD5 DLX5 PACS1 B3GAT3 FZD2 MAD2L2 GATA4 TRIO GJA8 ACAN SUZ12 CANT1 PTCH2 VAC14 KMT2A SATB2 IHH INTU XYLT1 PYCR2 RPL11 CWF19L1 RPS19 HDAC8 PALB2 ACTB MEIS2 PUF60 HP_ABSENT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMB FANCC SALL4 SF3B4 FANCA TBX5 FANCL FANCD2 FANCE FIG4 RSPO2 RECQL4 SLX4 PSMD12 ERCC4 RAD51C RPS19 SON VAC14 RPL26 RIPK4 ZBTB16 FANCI RFWD3 FANCB HP_SHORT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THUMB SETD5 FANCC TFAP2A NOG KCNH1 SEMA3E ATP6V1B2 CTBP1 NSD2 ADAMTS10 FANCD2 FZD2 MGP FANCE IHH ESCO2 PCNT BMPR1B HOXA13 GDF5 UBE2T EIF4A3 FLNA BCOR LETM1 MAP3K7 LRP4 SALL4 SETBP1 ACAN PSMD12 RAD21 DHODH DHCR7 SIN3A BRIP1 CANT1 PTCH2 RECQL4 WIPI2 APC KDM1A NIPBL KMT2A FANCI PALB2 LTBP2 FGFRL1 FANCA CHD7 RPL5 CHST11 ACVR1 BHLHA9 PTCH1 NELFA SLX4 CPLX1 COL2A1 RPL11 SMC1A RAD51C FBN1 RPS19 HDAC8 BRCA2 SMC3 SUFU LMNB2 MIR17HG HP_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TERATOMA NSD1 SETBP1 BCL10 FGFR3 STK11 MNX1 KIT APC2 MSH3 SETD2 HP_BRANCHIAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_ANOMALY TFAP2A EYA1 SIX5 SIX1 TCOF1 POLR1C POLR1D CRKL RPL10 BCR MAPK1 PUF60 HP_BRANCHIAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_FISTULA POLR1D EYA1 CRKL SIX1 TCOF1 BCR MAPK1 POLR1C HP_BRANCHIAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_CYST SIX5 SIX1 RPL10 EYA1 PUF60 HP_SUPERNUMERARY_SPLEENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_SPLEENS CCDC39 MYCN FGFRL1 TCTN2 CTBP1 RAB23 RPGRIP1 MKS1 CC2D2A TMEM67 TMEM231 CENPF GPC4 CDON RPGRIP1L TMEM107 GPC3 CPLX1 NSD2 NPHP3 GDF1 HYLS1 CEP290 CFC1 ESCO2 CEP55 B9D2 TMEM216 MMP21 LETM1 WDPCP MEGF8 ZIC3 B9D1 RFWD3 CSPP1 WDR35 MYRF HP_MATERNAL_DIABETES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_DIABETES PTCH1 VANGL1 KCNJ11 ARNT2 SOX3 FUZ PROKR2 SUFU SIX3 SOX2 GAS1 FGF8 OTX2 GJA1 NKX2-5 NODAL PPARG DLL1 FOXH1 GLI2 CLCNKB FGFR1 ERGIC1 DISP1 SLC12A3 CDON SHH HESX1 TDGF1 TGIF1 ZIC2 HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND FGFR3 FGFR2 MEGF8 GJA1 FGF10 SHH LMNA VAC14 LMBR1 FIG4 TRIO BMPR1B HP_NEPHROGENIC_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROGENIC_DIABETES_INSIPIDUS BBS1 AQP2 ARL6 AVPR2 VIPAS39 VPS33B CCDC28B HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS COL2A1 MMP13 MMP9 GNAS STX16 RPL13 COMP EZH2 TRPV4 HP_ABNORMALITY_OF_UPPER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT SHOX TWIST1 CTBP1 LIMK1 B4GALT7 MYBPC1 KCNAB2 FBN2 ARID1B PLEKHG5 PTEN COMP LMNA CLCN5 HEPHL1 LMBR1 MAP3K7 GPC3 SLC6A9 RRAS2 ELN FLNB UPF3B MYH3 ATR HOXD13 MED25 DYNC2LI1 SMC1A CBL SYNE2 TCF12 CHRNG FGFR3 FGFRL1 MMP14 OPA3 GSC SHOC2 CHST3 ORC6 WDR4 COL11A2 GDF5 LGI4 SOX11 EXT1 GJA1 BPTF NUP133 AEBP1 RAF1 TBX15 MEGF10 PIEZO2 EVC ROR2 COL2A1 COL17A1 COLQ NLRP3 PCYT1A CYP27B1 B3GALT6 HRAS KMT2A SETBP1 MMP13 BMPR1B SYNE1 SLC35A2 MMP2 TFAP2A FGD1 SRCAP BCOR RMRP COL6A1 MRAS ESCO2 NUP107 GPC4 L1CAM GLB1 IRF5 TMEM70 SELENON BRAF PAX3 KIAA0319L SKI MIR140 RAD21 CAPN3 DHODH EMG1 NOD2 PSMB8 KLHL7 KIF5A TBR1 MAPK1 MASP1 DONSON IGHMBP2 PTPN11 RAB23 NOG SLC35D1 SLC18A3 ALDH18A1 EVC2 TNNT3 NTNG1 GNPTAB FGFR2 COL27A1 BMP1 LMX1B MAF SHH GNE PEX1 MATN3 GTF2IRD1 SOS2 LETM1 STAG1 COL6A3 GPKOW PIGY PORCN RFC2 PSMD12 ACTA1 FKBP10 TWIST2 TONSL NALCN EP300 LFNG ALX3 NSD2 TMEM43 DVL1 EXTL3 CLIP2 ERCC2 POR FGFR1 EMD ACTG2 GMNN DOK7 SIL1 HLA-DRB1 C19orf12 NPR2 COL12A1 MAFB VDR PEX5 ERCC6 GHR OSGEP FLNA ERLIN2 NANS ENPP1 CNTN1 AUTS2 BCR TGFBR2 AKT1 STXBP1 PTH1R DVL3 SRY PTDSS1 CPLX1 NAA10 CREBBP DDR2 KIF22 FKTN ATP7A SOS1 FGF9 EZH2 DYM SMARCAD1 SOX4 B3GAT3 TRPS1 PEX2 FZD2 KCNK9 ZMPSTE24 MED12 SH3PXD2B SLC26A2 HINT1 VPS13B ARID1A TCTN3 PIK3C2A SMARCE1 POLR3A CPT2 CDC45 CHSY1 EFNB1 CDC6 CAV1 CCBE1 UFSP2 IHH RIT1 TFAP2B ARID2 TNNI2 XYLT1 IFITM5 FN1 TPM3 CYP26B1 BMP4 ALX1 FLVCR1 LAMB2 TPM2 HDAC8 ASAH1 NUP88 CCN6 RIPPLY2 LIFR CCDC8 GPC6 PHGDH PPP1CB RTTN COL6A2 SMARCC2 KAT6B AIFM1 XRCC2 EIF2AK3 RECQL4 SPRTN A2ML1 CDH3 TBX22 SALL4 SMARCD1 HES7 NIN SMG9 PYCR1 SETD2 CLCF1 SLC10A7 TBX5 RNU4ATAC FBLN1 AMER1 NIPBL B3GLCT TUBB3 PRDM16 ERCC1 CYP2R1 HSPG2 BHLHA9 CANT1 COLEC11 PLOD2 UROS SCARF2 ECE1 HOXA13 EXOC6B LONP1 SLC39A8 PEX6 HOXA11 TBX3 MESP2 GTF2H5 P4HTM RSPRY1 SMC3 GLI3 MACROH2A1 SFRP4 NXN GALNS RERE ASXL1 FGF16 ANTXR2 KRAS MLXIPL CDKL5 SMARCB1 MECP2 PPP2R3C GABBR2 ORC1 MBTPS2 NF1 EXT2 TPRKB SLC39A13 APC MORC2 NRAS PRG4 ERCC5 IKBKG TRPV4 LAMB3 OBSL1 LAMC2 MAP2K1 HUWE1 BAZ1B SMARCA4 UBA1 HACD1 SIN3A SF3B4 SLC29A3 ITGA7 SMOC1 TGFBR1 TP63 ZDHHC9 ADAMTSL2 EBP PLOD3 MYOT NONO MECOM DMP1 DPF2 RAPSN SLC16A2 CRLF1 DYSF ANO5 PCNT LAMA3 ADAT3 SRD5A3 WNT7A GTF2I ALG3 LRP4 OCRL MAP2K2 RASA2 MUSK UNC80 ERGIC1 CRKL COG5 PIGL ECEL1 MYH7 COLEC10 GJB2 PIGV KY ADAMTS3 PQBP1 GLI1 ORC4 MBTPS1 PITX1 WDR73 DLL3 ZIC1 POP1 CD96 NSD1 SETD5 COL11A1 MYL2 LZTR1 TP53RK MYOD1 CTDP1 SMAD3 CUL7 WNT5A CCN2 KDM5C TBL2 SIK3 FHL1 CTCF LARGE1 SUZ12 DHCR24 RBM8A TGDS NOTCH2 PRKAR1A IL6ST SLC35A3 GABRD FERMT1 BGN ITGB4 FBN1 CDT1 RRAS CCR6 GLE1 IDUA CUL4B MAP3K20 SNRPB WNT4 LAGE3 FAT4 SLC34A3 RPL26 EED TRIP11 HP_ABNORMALITY_OF_THE_ELBOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ELBOW SHOX LIFR CCDC8 NALCN GPC6 PPP1CB MASP1 SMARCC2 FBN2 ARID1B RECQL4 COMP SPRTN LMNA HEPHL1 MAP3K7 SLC6A9 SMARCD1 COL6A2 FLNB PYCR1 ATR TBX5 RNU4ATAC B3GALT6 NIPBL DYNC2LI1 B3GLCT SMC1A CBL TUBB3 SYNE2 CHRNG FZD2 OPA3 GSC SHOC2 CHST3 ORC6 HSPG2 CANT1 COLEC11 GDF5 PLOD2 LGI4 FLNA SOX11 EXT1 BPTF COL2A1 SCARF2 AEBP1 RAF1 TBX15 EVC SELENON EXOC6B ROR2 SLC39A8 COL12A1 SALL4 P4HTM RSPRY1 SLC26A2 PCYT1A SMC3 HRAS KMT2A MACROH2A1 MMP13 SYNE1 SFRP4 TFAP2A NOG NXN GALNS HDAC8 DONSON COL6A1 ASXL1 KRAS SMARCB1 BCOR CLCF1 BRAF PPP2R3C NUP107 SKI MIR140 RAD21 CAPN3 POR ORC1 NF1 EXT2 PSMB8 LMX1B TPM2 APC KLHL7 TRPV4 PTPN11 PTDSS1 OBSL1 MAP2K1 HUWE1 ALDH18A1 EXTL3 EVC2 SMARCA4 FGFR2 HACD1 SLC29A3 ITGA7 COL27A1 BMP1 SMOC1 PLOD3 MYOT PEX1 MATN3 STAG1 COL6A3 FGFR3 ERCC1 DPF2 PIGY DYSF PSMD12 ANO5 PCNT ACTA1 GJA1 FKBP10 SRD5A3 WNT7A TONSL KIF22 EMD LRP4 EP300 MECOM MAP2K2 TMEM43 DVL1 MUSK UNC80 ESCO2 FGFR1 ECEL1 GMNN SIL1 SF3B4 COLEC10 GJB2 NPR2 PEX5 ERCC6 GHR KY ERLIN2 VPS13B GLI1 STXBP1 DVL3 SRY CREBBP ORC4 DDR2 PITX1 CRLF1 ATP7A POP1 CD96 FGF9 EZH2 XYLT1 SETD5 MYL2 SOX4 RMRP B3GAT3 PEX2 KCNK9 CUL7 WNT5A MED12 SIK3 FHL1 ARID1A LARGE1 PIK3C2A MYH3 SMARCE1 CPT2 CDC45 NOTCH2 PRKAR1A CDC6 HOXA11 PTH1R BGN ARID2 FBN1 IFITM5 CDT1 TPM3 CYP26B1 GLE1 IDUA SOS1 CUL4B MAP3K20 SNRPB WNT4 ASAH1 HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES KMT2D FGFR3 CTBP1 GLI3 PHF6 CLCN4 KRAS LRP4 KCNAB2 ARHGAP31 ARID1B COMP MMP13 PTH1R SOX9 LMBR1 TCF4 GPC3 EDA2R FGFR2 BRIP1 TRPV4 COL2A1 TP63 IFT80 DYNC2LI1 RAG2 SALL4 BPNT2 LTBP3 GJA1 CHD7 HSPG2 ARHGEF6 KMT2A GSC PPIB SF3B4 WDR35 COL11A2 MYH3 PTCH1 EXT1 RUNX2 BPTF FGFR1 HDAC6 ARX ORC6 PCYT1A SETBP1 SLC35A2 TFAP2A KCNH1 ROR2 SEMA3E PIGQ XRCC4 CHRND CEP120 RAB33B GNAS HDAC8 RMRP ESCO2 PHYH SLX4 NEK1 MAP3K7 WRN BCOR DVL1 INPPL1 RAD21 NFIX DHODH MBD5 SLC26A2 RPS6KA3 FANCA MMP9 TRIP11 GHR KDM1A KLHL7 FANCI PEX7 FBXO11 CHUK RAB23 COG4 PHGDH EVC2 XRCC2 TNNT3 WDR19 OFD1 FBXL3 GDF5 CRTAP ACTL6B WNT5A DCLRE1C ACAN MAGEL2 LETM1 FANCB SNORD115-1 CTC1 MIR17HG PIGY TBCE ATP6V1B2 FLNB SMARCD1 FANCM FANCE CHRNG GPC4 TONSL C12orf57 EXTL3 GNAS-AS1 SIN3A SNRPN CUL7 PDE4D TBX4 PEX5 PIGP SIL1 CLCN7 TWIST1 BMPR1B FANCL SMAD4 NPR2 MAFB PCGF2 NANS NOTCH1 BCR IQSEC2 CRIPT SRY DOLK CPLX1 RAC1 GNAO1 WDR34 ZNF41 MATN3 EZH2 TBC1D24 NSD2 WNT3 ADAMTS10 TRPS1 FZD2 MAD2L2 GRIP1 ARSL FGD1 NBAS SPART SYP HINT1 DYNC2H1 KCNA1 SMARCE1 ALPL SLC9A7 CHSY1 PIK3R1 PWRN1 USP7 HUWE1 COL11A1 RFWD3 PIGN PIGT RPL10 IHH CILK1 NOG ARID2 SLC35C1 TNNI2 CDC45 XYLT1 ZMPSTE24 IGF1R EVC FAT4 NALCN PRKAR1A TAPT1 IFT122 CDC6 RECQL4 POLR3A DNMT3A MED12 BRCA2 PALB2 ASAH1 HOXA13 ABCC9 CCDC8 RNU4ATAC DHCR7 GPC6 GLUL MGP STXBP1 EIF2AK3 NGLY1 WNT10B MAPK8IP3 CCDC28B HHAT SLCO2A1 PIGL TPM2 SHOX B3GALT6 AMER1 ZIC3 B3GLCT TUBB3 SALL1 HCFC1 PRDM16 PUF60 WASF1 DYM LMNA TBCK GMNN IFT52 BHLHA9 CANT1 PDE3A HOXD13 TWIST2 LAS1L DDRGK1 ALDH18A1 IFT140 BMP2 SLC39A8 LBR GABBR2 SCN2A EOGT RSPRY1 ALG12 MACROH2A1 FBN1 SEM1 FANCC NXN TBX5 LIG4 MBTPS2 SEMA5A DONSON COG1 P3H1 ANTXR2 TBX15 IFT57 WDR60 SMARCB1 ALOXE3 PPP2R3C PSMD12 KCNJ2 SLC25A24 FANCD2 CNKSR2 GNPAT IKBKG COL10A1 RIPK4 LIFR ADA MAB21L2 DVL3 B9D1 COL9A1 CCBE1 SHH PIGO ATP7A SMOC1 RBBP8 EBP REV3L FLNA RAD51 PTCHD1 ACSL4 CERT1 JAG1 KIAA0586 PCNT SMC3 KYNU HYLS1 KIF15 ERGIC1 CHST3 IRX5 CRKL EXOC6B ZBTB20 IFT81 EXT2 PIGV SMC1A IFT43 ALG13 TBX22 KAT6B ACTB RAD51C GNPTAB PAK3 RSPO2 CTNND2 PITX1 TBL1XR1 POP1 CD96 COL9A2 POC1A DPH1 SETD5 CHRNA1 FRMPD4 PNKP IL2RG SNORD116-1 BBS1 BTRC GPX4 IDH2 ARL6IP6 KDM5C SERPINH1 CDT1 DHCR24 PIGW DMD GABRD CDK10 CSPP1 ZSWIM6 CUL4B RPL11 SNRPB RPS19 TGFB1 SCN1B KDM6A TBX3 SUFU ZNF81 PPM1D CCDC47 FMR1 TRAPPC2 KIFBP AFF4 ARL6 CTSK PWAR1 MET POLE ATR PORCN RAB39B FGFRL1 FUT8 SLC6A17 CDKL5 NSDHL SOX11 TELO2 IFT172 DCHS1 SPECC1L IL1RAPL1 SNIP1 SLC25A22 SMARCA2 DOCK6 MYSM1 FLI1 FAM20C MEGF8 MIR140 MCTP2 DLL4 MID2 KIF7 NDN MAPK1 MASP1 HBA1 SKI RBPJ CREB3L1 TSPAN7 RAI1 WNT7A STAMBP TRAF3IP1 EDA UBE2T LMX1B TTC21B RBM10 ACP5 ERCC4 DMXL2 INPP5K SLC39A13 IDH1 B2M MTOR MYCN RPL5 ACVR1 NELFA GGCX NSUN2 TRRAP DDR2 KIF22 BRCA1 DPM1 IDUA CDH11 DLX5 SOX4 ZNF711 B3GAT3 SON ARID1A CFAP410 GDI1 TCTN3 PIK3C2A PTCH2 PTHLH PIGS TFAP2B USP9X INTU HDAC4 CCDC22 NEUROD2 CDKN1C FN1 BMP4 MECP2 PRMT7 RB1 PGAP2 MEIS2 RAG1 SLC35D1 SMARCC2 RBM8A FTSJ1 HESX1 UPF3B FGF9 WIPI2 SLC10A7 NIPBL CHD4 CENPE CHST11 CXorf56 SCARF2 FRAS1 UBE2A FANCF LONP1 YY1AP1 NPAP1 ADAMTS2 HTT ABCA12 RAB3GAP2 FIG4 CASK FANCG RERE ASXL1 IL7R ORC1 AIFM1 APC PTDSS1 OBSL1 CHN1 SMARCA4 NIN TRIM8 COL3A1 HERC2 SMO ADAMTSL2 FGF10 SHROOM4 PUM1 DPF2 ADNP NOTCH2 DACT1 GATA1 PLXND1 EIF4A3 PAM16 USP27X UNC80 IFNGR1 ZBTB16 TMEM67 LTBP2 AGTR2 VPS13B GLI1 KCNJ8 ORC4 MKRN3 ARCN1 CRLF1 STX16 CLTCL1 NHS CAMK2G SIM1 COL9A3 DLG3 FBXL4 EPS15L1 MAPRE2 TRIO SIK1 SIK3 IGF2 FERMT1 VAC14 CCNQ BGN EFNB1 FKBP10 DYNC1H1 CWC27 HPGD PSAT1 DLX6 PGAP3 RPL26 AGPS PAPSS2 HBA2 LMNB2 WDR81 ALOX12B HP_LOWER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_UNDERGROWTH MMP13 SHOX CHUK NOG SLC26A2 ALPL PPIB ARL6IP6 PAPSS2 HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS LMBR1 DYNC2H1 ATP7A VAC14 BMPR1B GLI3 GDF5 FIG4 LMNA HP_UPPER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_UNDERGROWTH RBM10 SHOX CCDC8 FANCE JAG1 FANCM ERCC4 PSMD12 LRP4 TRAPPC2 FANCL AFF4 WNT7A GDF5 RECQL4 EIF4A3 RFWD3 SALL4 PIGT HYLS1 PDE4D BRIP1 B2M CHST3 ATR EXOC6B TBX5 SLC26A2 ZBTB16 IFT81 SF3B4 CHD7 NPR2 MAFB TRIP11 COL2A1 EXT1 BPTF RAD51C SCARF2 BRCA2 FANCF LBR BRCA1 ALG12 BMPR1B DPM1 FGFR3 SEMA3E FANCG NIPBL DONSON IHH MAD2L2 SLX4 CUL7 ESCO2 FANCC FANCB DHODH FANCI FANCD2 EXT2 FANCA APC CCNQ CHUK OBSL1 CHN1 XRCC2 DYNC2H1 PRKAR1A UBE2T FGFR2 FGF10 RPS19 PALB2 RPL26 TBX3 RAD51 HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES FGFR3 ATP7A FGFR2 BMPR1B MEGF8 GLI3 GJA1 LMBR1 FGF10 SHH LMNA DYNC2H1 VAC14 GDF5 FIG4 TRIO HP_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_UNDERGROWTH SHOX CCDC8 MYSM1 FANCE SLC35D1 FGFR3 DYNC2LI1 GLI3 DHCR7 NPR2 GPC6 BMPR1B PHGDH GLUL LRP4 WDR35 MMP13 INPPL1 TRAPPC2 FANCL AFF4 GDF5 RECQL4 IFT80 NGLY1 RFWD3 PTH1R SALL4 FGFR1 SLC26A2 FLNB NXN HHAT BRIP1 FGFR2 COL2A1 POLE ATR TBX5 RNU4ATAC NIPBL B3GLCT FUT8 FZD2 IFT122 LTBP3 CHD7 HSPG2 GSC CHST3 DYM TBCK IFT43 PPIB IFT52 WDR60 SF3B4 COL11A2 TRIP11 EXT1 BPTF SCARF2 DDRGK1 TBX15 EVC FANCF EXOC6B ROR2 IFT140 IFT172 SLC39A8 LBR HDAC6 ADAMTS2 HYLS1 PCYT1A ALG12 SMC3 B3GALT6 KMT2A TONSL SEMA3E XRCC4 CEP120 FANCG MBTPS2 DONSON RMRP IHH ASXL1 COG1 SLX4 ANTXR2 NEK1 ESCO2 DVL1 FANCB FAM20C DHODH FANCI MIR140 RAD21 FANCD2 EXT2 KIAA0586 FANCA APC GHR GNPAT KIF7 LIFR PEX7 MAB21L2 DVL3 CHUK OBSL1 CHN1 B9D1 EVC2 XRCC2 CREB3L1 COL9A1 WDR19 NIN WNT7A CRTAP UBE2T SMO WNT5A EBP FGF10 ACAN COMP SMC1A MATN3 ACTB COL10A1 RAD51 TTC21B RBM10 PIGY DYNC2H1 JAG1 ACP5 FANCM ERCC4 PSMD12 PCNT EIF4A3 IDH1 DHCR24 PAM16 PIGT KYNU EXTL3 KIF15 PDE4D ERGIC1 B2M GPX4 MTOR ZBTB16 IFT81 MAFB RAD51C PUF60 BRCA2 GLI1 RAC1 DDR2 ARCN1 KIF22 WDR34 BRCA1 CD96 CLTCL1 COL9A2 TRPV4 SETD5 DPM1 COL11A1 B3GAT3 MAD2L2 FLNA CUL7 FANCC NBAS IDH2 ARL6IP6 SERPINH1 SIK3 CFAP410 TCTN3 ALPL CCNQ CSPP1 EFNB1 CILK1 NOG CDKN1C FN1 PSAT1 COL9A3 PRKAR1A TAPT1 RPS19 HDAC8 PALB2 RPL26 TBX3 AGPS PAPSS2 HP_PHOCOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOCOMELIA ESCO2 TBX5 RBM8A NIPBL LMBR1 WNT7A SF3B4 HP_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_NEUROPATHY KCNJ1 FMR1 PMP22 GNB4 REEP2 COMP DMXL2 EPCAM POLG NEFL SPTBN2 PNPLA6 MEFV MAG GABRG2 CD59 CTLA4 KCNJ11 SACS CRAT COASY SLC2A1 NDUFS7 WASHC5 EGR2 TYMP OPA3 GNA11 MTRR HLA-DRB1 CCR1 TRPV4 MT-ND4 MLH3 MSH2 KCNQ3 MYD88 VPS13A KIF1A TWNK AP1B1 ERCC3 HLA-DQB1 GAN TTPA RPIA RNF113A RAI1 XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 MT-TW PHYH INSR ALDH18A1 KIF5A TREX1 RAD21 C4A MT-CYB SCN8A ARSA MME GLA DSE ARSB LYST NDUFV1 PNKP RFC1 RAB18 COA7 AP1S1 TBC1D20 WFS1 ABCC8 MPL OPA1 ABHD12 MTMR2 LDB3 SDHA DGUOK ATXN8OS ERCC4 AGPAT2 FAM126A ATAD3A JPH1 MICU1 MAGEL2 HSD3B7 MYH14 PMM2 MT-ND5 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 MRE11 TGM1 DNMT1 PSAP AGRN ERCC6 WIPF1 NF2 SELENOI PRKCG ATP7B AIFM1 PLD3 DEAF1 SPG7 SLC25A19 SNRPN CYP2U1 GALC PDE4D PHF6 GCK ERCC2 PEX5 KLC2 WAS PEX11B C19orf12 PIK3R5 IL23R MT-ATP6 ERAP1 GJC2 MCM3AP ATP13A2 DMPK ADAR DKK1 RETREG1 IFIH1 MSH6 PMS1 SLC25A1 HBB GSN MT-ND6 TBC1D24 RRM2B PPOX HLA-B GARS1 MT-ND4L KCNK9 DDB2 ATXN7 CHAMP1 C11orf95 HINT1 NDUFA10 MT-TL1 KCNC3 ABCA1 MT-ND3 MPZ FUS SLC18A3 CCT5 SLC12A1 SBF2 MTFMT SOX10 FA2H PWRN1 RPS20 KMT2A NOTCH3 KCNQ1OT1 AGXT NDUFAF3 NIPA1 NDUFA4 TIMM8A MT-ND2 FBLN5 GJB1 PRKAR1A AP5Z1 FLVCR1 PEX10 DNM1L AMACR RTN2 HDAC8 FGF14 ALAD OSTM1 RAB3GAP1 SNAP29 KARS1 SH3TC2 NDUFB8 GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 BEAN1 MT-TF ERCC5 NDUFA13 ERLIN2 SLCO2A1 MYOT ERCC1 GNA14 DHH MSTO1 MANBA MT-CO3 HARS1 ATP1A1 PPP2R2B IBA57 GCLC MYF6 MFN2 CBLIF MT-ND1 SPG11 DCAF8 SBF1 PEX7 XRCC1 SPAST ABCD1 NAGA RAB7A TRIM2 PDCD1 FIG4 SLC12A6 TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 FXN VPS37A SMPD1 HADHA PLEKHG4 TPI1 PDYN DDHD1 SCN9A BIN1 LIFR PTPN22 SEMA4A WDR48 POLG2 GCH1 MT-TS2 CAPN1 CYP7B1 ATXN3 UBTF CACNA1G COA8 PIK3CA CAVIN1 SLC12A3 SIGMAR1 CPT1C RNF170 PDK3 TACO1 FAH ADAT3 B4GALNT1 TTR HFE SAR1B BMPR1A VCP POLR3B HADHB CHCHD10 ZFHX2 MEN1 NDUFV2 HSPD1 CLCNKB BRAF GRIN2A SLC33A1 INS SURF1 STAT4 MPV17 TBCE PRPS1 SLC52A2 SCP2 AAAS KIF1C ALS2 BTNL2 GNPTAB SPART SETX IDUA PDHA1 SLC25A15 CALR CD28 CASR MLH1 MPC1 FLII SETD5 SNORD116-1 NDUFS2 CHAT FLRT1 HMBS ELOVL4 GPI ATL1 MT-TK TBCD CACNA1A ATP5F1E IGHMBP2 MARS1 RNASEH2A MT-TV C12orf65 ARL6IP1 ATXN1 KCNJ10 IARS2 TDP1 COL1A1 AARS1 SLC19A2 DNAJB2 TGFB1 GBE1 TRAPPC11 BAG3 DSTYK GLE1 NDUFS1 DYNC1H1 LIPT1 MPLKIP PDX1 SCN11A SUCLA2 CPOX JAK2 KLHL9 DNM2 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 THPO NGF STAT3 ADA2 MAPT PNPT1 HADH SERPING1 XPC HSPB3 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 WARS1 MT-TQ MORC2 TP53 SHANK3 SCO2 HK1 ELOVL5 COL13A1 B2M MTHFR NDN LAMA2 APTX IQSEC2 AR ATL3 DST FOXRED1 NTRK1 SCN10A FOS CISD2 GRM1 SYNE1 RNASEH2B TBP HLA-DPB1 PRRT2 TFG LMNA SMC1A PPARG SPTBN4 MT-TH NAGS SLC19A3 NAGLU DARS2 MYO9A MED25 SEPTIN9 IL12A INPP5K SIL1 SGPL1 SNAP25 NDUFA12 PLEKHG5 ATXN2 TXN2 SCN4A XK FUCA1 GRIA3 INF2 WNK1 SLC25A46 SCYL1 CDKL5 MT-CO1 CLP1 CCND1 NDRG1 ARSI RYR1 PRTN3 TARS1 ELP1 COX15 MTMR14 ATP7A STX16 AHCY MFF PLP1 CAV1 RNASEH2C TK2 SLC52A3 NDUFA2 MT-CO2 ASCC1 KCND3 GMPPA PDSS1 DNAJC3 SYT2 NDUFA9 SLC25A4 TNFRSF1B ACO2 NALCN TRIP4 NDUFAF6 CTSD VAMP1 HNRNPA1 SLC46A1 POLR3A TOP3A KRAS VPS13D RAB3GAP2 FBN1 NIPBL GTF2H5 TUBB3 COG8 MATR3 HSD17B4 CTDP1 ZFR EDNRB SERPINI1 SCN2A SAMHD1 NPAP1 GPR101 SMC3 GTF2E2 COQ7 AIP NDUFAF5 RNASEH1 CYP27A1 PEX12 TNFRSF1A UBAC2 TTBK2 ATN1 COX6A1 AMPD2 KCNQ2 VHL HLA-DPA1 HERC2 TLR4 RMND1 NLRP3 FAN1 NOTCH2 FGD4 XPA FLI1 DEGS1 APP CA2 DNASE1L3 SRPX2 UNC80 PIEZO2 IL10 PRX RNF168 SH2B3 NEFH IGF2 YARS1 ACER3 MKRN3 CLTCL1 SPG21 SAMD9L TIMMDC1 SPTLC2 NDUFS3 NDUFS4 LITAF CUBN KIF1B TMPRSS6 MT-TE IFRD1 STUB1 HSPB8 TNXB HPGD TET2 PGM3 PEX1 FDX2 HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER NALCN PIGY PHF6 CLCN4 ARID1A MGP SMARCC2 GPC4 WDR35 ARHGAP31 ARID1B GDF5 COMP FTSJ1 AMMECR1 MAP3K7 SETBP1 SMARCD1 EDA2R RPS6KA3 CTSK SOST UPF3B TRPV4 B3GALT6 COG4 DYNC2LI1 RAB39B HCFC1 IFT122 NOG ARHGEF6 CHST11 BANF1 SALL4 LMNA IFT52 HOXD13 PTCH1 FLNA CXorf56 DSP SOX11 SMARCA2 EVC HOXA13 ROR2 COL2A1 PAH TBX3 PTHLH ARX IL1RAPL1 FIG4 MACROH2A1 KDM5C KCNH1 NXN GATAD2B GNAS DOCK6 IHH IFT57 SMARCB1 DVL1 PPP2R3C MCTP2 NFIX PIGN SLC25A24 CNKSR2 DLL4 MID2 ABCC9 MAPK1 COL10A1 CTSC RBPJ EVC2 SMARCA4 BMPR1B TSPAN7 MECP2 STAMBP FGFR2 PIGO EDA ACTL6B WNT5A DVL3 LEMD3 PIGV DPF2 PTCHD1 ACSL4 NOTCH2 JAG1 CHST3 RAB3GAP1 PCNT WDR19 KIF22 ZMPSTE24 USP27X UNC80 LMBR1 RNU4ATAC CRKL MTOR ZBTB20 CLCN7 TWIST1 IFT43 ALG13 NOTCH1 AGTR2 PIGL BCR GLI1 IQSEC2 TGFBR2 PAK3 CRIPT GGCX KCNJ8 DDR2 PITX1 TBC1D24 ZNF41 POC1A FRMPD4 SOX4 ZNF711 B3GAT3 TRPS1 DLG3 TFAP2B ARSL SMARCE1 EOGT SYP RMRP GDI1 PIGW DMD RAB3GAP2 SETD5 SLC9A7 IGF2 CANT1 PTCH2 VAC14 PIGS ARID2 CWC27 CCDC22 KIF7 ATRX LRP4 USP9X PGAP3 FLNB MED12 GPC3 PGAP2 SUFU ZNF81 HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND FGFR3 ROR2 PHF6 GDF5 IHH TRPV4 PCNT GATA1 FIG4 GJA1 TFAP2B BMPR1B TRPS1 FGFR2 IFT57 HOXA13 EIF2AK3 DVL1 KMT2D SLC26A2 MEGF8 NFIX IGF2 CHSY1 PDE4D VAC14 FGFR1 HOXD13 COL10A1 BHLHA9 RAB23 NOG BMP2 KMT2A INTU RUNX2 GMNN LMNA NIN BMP4 PUF60 PTDSS1 WNT5A COL2A1 RBBP8 KDM6A FGF10 DVL3 MIR17HG HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND BHLHA9 IHH FLNB RAB23 BMPR1B TRPS1 FGFR3 LMBR1 GDF5 CDKL5 KIF22 TRIO COL2A1 NOG KIF15 SHH CHSY1 GNAS VAC14 MTOR FIG4 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 PTCHD1 ACSL4 PIGY NOTCH2 JAG1 PHF6 CLCN4 ARID1A MGP SMARCC2 TRPV4 GPC4 PCNT WDR35 ARHGAP31 ARID1B COMP WDR19 FTSJ1 IFT52 MAP3K7 SETBP1 SMARCD1 EDA2R USP27X RPS6KA3 CTSK UPF3B CHST3 CRKL MTOR ZBTB20 COG4 DYNC2LI1 RAB39B HCFC1 CLCN7 IFT122 NOG ARHGEF6 CHST11 PIGV PIGO SALL4 LMNA IFT43 ALG13 PTCH1 FLNA NOTCH1 CXorf56 AGTR2 HOXD13 SOX11 PIGL BCR GLI1 IQSEC2 TGFBR2 EVC PAK3 HOXA13 SLC25A24 CRIPT GGCX ROR2 COL2A1 TBX3 PTHLH KCNJ8 DVL1 ARX TBC1D24 ZNF41 IL1RAPL1 FIG4 POC1A KDM5C KCNH1 NXN FRMPD4 SOX4 ZNF711 TRPS1 DOCK6 DLG3 BMPR1B ARSL SMARCE1 IFT57 EOGT SYP SMARCB1 GDI1 RBPJ PIGW MCTP2 DMD NFIX PIGN SLC9A7 IGF2 CNKSR2 DLL4 MID2 PTCH2 VAC14 ABCC9 MAPK1 COL10A1 SMARCA4 PIGS IHH ARID2 EVC2 CWC27 CCDC22 ZMPSTE24 TSPAN7 MECP2 STAMBP EDA USP9X ACTL6B PGAP3 FLNB GDF5 MED12 GPC3 PGAP2 SUFU DPF2 ZNF81 HP_BROAD_DISTAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_DISTAL_PHALANX_OF_FINGER CHST3 GATAD2B GNAS B3GAT3 SETD5 IFT122 FGFR2 GPC4 HOXD13 FLNB RNU4ATAC FLNA B3GALT6 WDR19 SMARCA2 KIF22 AMMECR1 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 COL2A1 KIF15 SHH IHH BMPR1B VAC14 FGFR3 LMBR1 MTOR FIG4 GDF5 TRIO HP_SIMPLIFIED_GYRAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLIFIED_GYRAL_PATTERN VLDLR CUL4B AHDC1 TRAIP TUBB2A XRCC4 ASNS COPB2 CENPE TUBGCP6 ASPM WDR62 CEP152 DONSON GMNN RTTN CDK6 TSEN2 ZNF335 C2CD3 STIL NDE1 FOXG1 CSNK2A1 CLP1 ANKLE2 KIF11 QARS1 IER3IP1 KIF14 MPDZ PNKP DCHS1 GFM2 SON CDK5RAP2 PSAT1 KATNB1 DYNC1I2 ERCC1 PLK4 TUBB3 PRKDC OSGEP CIT HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND FGFR2 ROR2 TWIST1 PPP2R3C WNT5A GDF5 PAH LMBR1 CANT1 DVL3 BMPR1B LEMD3 KIF7 DVL1 HP_TAPERED_DISTAL_PHALANGES_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER NALCN ZMPSTE24 DSP CTSC UNC80 LMNA HP_TRICHORRHEXIS_NODOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICHORRHEXIS_NODOSA ASL TTC37 SKIV2L MPLKIP KRT25 ERCC2 SPINK5 HEPHL1 HP_ABNORMALITY_OF_HAIR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_PIGMENTATION TYRP1 TYR MLPH DHCR7 TERT PRDM5 SOX10 MTAP OCA2 KITLG SLC17A5 NOP10 TP63 MC1R MITF MYO5A SNAI2 FGFR3 PAX3 STN1 EPG5 RTEL1 LAMTOR2 PADI3 KIT TFAP2A GNPTAB SNRPN LMNA PWAR1 LPAR6 NPM1 PMPCA ATM WRAP53 TTC37 SKIV2L DTNBP1 RAB27A MAFB DKC1 HPS5 KANSL1 LRMDA SLC45A2 ATP7A EDNRB NPAP1 MKRN3 TMCO1 ACD PCSK1 TERC POMC HPS1 KRT25 ZNF469 LIPH HPS4 RMRP SNORD116-1 ELN PRKAR1A ESCO2 ABCA2 TINF2 UBE3A INSR PDE4D MLXIPL WRN PARN EDN3 KRT74 PEPD AP3D1 DSTYK PWRN1 NDN PIGN LYST CHN1 NHP2 CACNA1F UBR1 KRT71 PAH PTPN22 CTNS BLOC1S3 FAS SALL4 UROC1 USB1 ZMPSTE24 TGM3 HERC2 CTC1 MAGEL2 HPS6 RECQL4 SNORD115-1 AP3B1 HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR BMP15 FLRT3 APCDD1 SNRPE NR5A1 CCDC141 GNRH1 COL17A1 FSHR FSHB SRY TP63 PPP2R3C MAP3K1 DUSP6 LHX4 AR ANOS1 ZFPM2 BNC1 IL17RD APOE WWOX NR0B1 CCBE1 DMRT3 LPAR6 FEZF1 AXL ZBTB20 FGF17 VAMP7 SEMA3E PROP1 CYP17A1 SRA1 SOX3 WDR11 SPIDR ITGB4 HESX1 POLR3H PSMC3IP SPRY4 GJB6 GNRHR OTX2 HLA-DRA DHX37 DSC3 CYB5A POLR3B ADAMTS3 GATA4 GLI2 MRPS22 SOX9 TBX3 ORC6 LHB EPS8L3 FOXA2 FAT4 WT1 NUP107 POU1F1 HP_LOCALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_HIRSUTISM FLNA TBX15 AFF4 ARID1B CKAP2L WNT4 HP_HIGH_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_ANTERIOR_HAIRLINE NSD1 KCNH1 EFNB1 SPECC1L FGD1 NSD2 DLX4 SLC9A7 SLC35C1 ZC4H2 NRXN1 CWC27 STAG2 CNTNAP2 SIN3A TWIST1 MID1 ALX1 NELFA LETM1 SOS1 SYT1 CCNK ADNP ALX3 PEX6 THOC6 WNT4 KDM1A UGP2 IFIH1 ATP6V1B2 SETD2 TBL1XR1 RERE MEIS2 LRP2 CDH1 PEX1 HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES RBM10 PEX14 TTC37 GATA5 GDF1 TBX1 PEX11B FGFR2 KIF11 PEX10 ESCO2 SLC25A24 LIG4 KRAS PEX16 FLT4 BRAF MAP2K2 SOX11 PEX13 GJA5 KLHL7 JAG1 PEX12 MASP1 PRMT7 TCF12 HBA1 RAB23 FGFR3 MAP2K1 PEX1 PEX3 PEX5 GHR NKX2-5 ASXL1 ZFPM2 TWIST1 PEX6 PEX26 GATA6 NSUN2 PEX2 CITED2 TRAPPC9 ANTXR1 ZIC1 GATA4 NKX2-6 PEX19 HBA2 HP_ANOTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOTIA HOXA2 CDC6 POLR1A CHUK CDT1 ORC6 ORC4 ORC1 CDC45 GMNN FANCB HP_THICKENED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_EARS KCNJ11 PTCH1 KCNH1 ABCC8 AFF4 KCNN3 ATP6V1B2 TAF1 HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX EDN1 FGFR2 FGFR3 TWIST1 TCTN3 PLCB4 GNAI3 HP_ABNORMALITY_OF_THE_ANTITRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTITRAGUS PNPLA6 MECP2 RAB3GAP2 CHST3 NTNG1 CDKL5 STXBP1 B3GAT3 KCTD1 GABBR2 HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES SMS JMJD1C RBM10 ATR TRAIP AHDC1 PCNT PTPRF B4GALT7 SEC24C FLI1 FIG4 CEP152 ESCO2 ABHD5 CENPJ PLK4 HIRA RREB1 VPS13B COL3A1 FGFR2 RBBP8 SEMA3E ZMPSTE24 CHD7 POLR3A KCTD1 GP1BB ARVCF LMNA CDC6 ATRIP TBX1 UFD1 COMT HBA1 CENPE HBA2 HP_UPLIFTED_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPLIFTED_EARLOBE ZEB2 AHDC1 TBL1XR1 GRIA3 SMARCD1 BMP4 IL1RAPL1 HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY CEP57 FGFR3 GDF3 POR GDF6 HP_ABNORMALITY_OF_THE_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TRAGUS SALL1 RNU4ATAC NUP188 EFTUD2 DACT1 GLI2 KCTD1 PIGN HP_CYCLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYCLOPIA PTCH1 NODAL SHH DLL1 FOXH1 SIX3 GLI2 PRRX1 DISP1 CDON OTX2 SUFU TDGF1 TGIF1 FGFR1 GAS1 ZIC2 FGF8 HP_ANISOCORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCORIA GMPPA AAAS LOXL1 TMEM67 SIN3A HP_PERSISTENT_PUPILLARY_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_PUPILLARY_MEMBRANE ATOH7 GJA1 POMT2 CPAMD8 ADAMTSL4 HP_ECTOPIA_PUPILLAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_PUPILLAE ZEB2 FGFRL1 MAB21L2 COL4A1 CTBP1 GRHL2 CPLX1 NSD2 CPAMD8 VSX1 OVOL2 FBN1 COL8A2 FOXC1 LETM1 RHOA ADAMTSL4 TBX2 ZEB1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE RSPO2 FREM2 WNT3 RNU4ATAC FLNB TRIO SOX10 MYO18B PRRX1 PCNT GJA1 TP63 RECQL4 TWIST1 TWIST2 CENPJ ALX1 PAX3 CLP1 OFD1 STXBP1 SIX3 SIN3A MYH3 ESCO2 CRKL EDA TGIF1 GMNN TAF6 NFIX GHR LMBR1 TXNL4A BCR SCARF2 TRPS1 DGCR8 FRAS1 ANKRD11 GRIP1 USH1G ORC4 ATP6V1B2 PIK3R1 RIPK4 ALG9 TBX1 NALCN MGP SRCAP PHF21A ESS2 CTNNB1 PRPS1 CKAP2L PRKAR1A ZMPSTE24 EXT2 ALX4 OTX2 PDE4D CDKL5 MITF EDN3 EDNRB MECP2 PPP2R3C SOX11 DGCR2 GABBR2 RDH11 NAA10 KCNJ6 FGF3 DGCR6 MAPK1 SMCHD1 UBE2A PLEC NOG HNRNPH2 HDAC4 UBR1 CWC27 NSUN2 NTNG1 PTCH1 NEXMIF ASXL3 LMNA HNRNPK SPATA5 HP_EPIPHORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHORA KRT12 SLC39A14 LRP1 OVOL2 IGSF3 COL17A1 NLRP3 NHP2 TINF2 KRT3 SEMA4A SDHD DKC1 HLA-DRB1 NOP10 HP_THICK_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_NASAL_ALAE CCNK KCNH1 MED12 RPS6KA3 ABCC9 ANTXR1 ABCA5 SMARCE1 NF1 RHOA PTEN SIN3A ZSWIM6 SMARCA2 EXT1 TRPS1 AKT1 SMARCA4 HP_ABNORMALITY_OF_THE_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COLUMELLA ZEB2 RAC1 SRCAP AIMP2 CTNNB1 ATN1 TRIO CKAP2L CDH11 FLI1 GJA1 MGAT2 KDM6A TSPEAR TWIST1 KMT2D CTCF ATP6V1E1 EP300 PIK3C2A SOX11 RDH11 NAA10 ALX3 UBE2A KCTD1 ERF HDAC4 DNMT3A ALX4 CWC27 CENPF B3GLCT ZNF148 ZSWIM6 EXOSC2 CREBBP NOG ASXL3 THOC6 SHH LMBR1 ACTG1 ACTB NALCN HP_SINGLE_NARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_NARIS SMCHD1 CSPP1 GLI2 WNT3 SHH HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM PTCH1 NOG FLNB TGIF1 SIX3 HP_FACIAL_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HIRSUTISM FLNA TBX15 AFF4 CKAP2L WNT4 HP_MANDIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_APLASIA NDUFB11 CHUK PRRX1 ORC6 ORC4 HCCS ORC1 CDC45 CDC6 COX7B CDT1 OTX2 FAM20C GMNN HP_DUPLICATION_OF_THUMB_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THUMB_PHALANX FANCC FGFR3 FANCA RAB23 DACT1 SMO FANCD2 NAA10 INTU FANCE GLI1 ESCO2 BMPR1B GLI3 NUP107 UBE2T BCOR KIF7 SALL1 PPP2R3C FGFR2 GDF5 PAH FGF10 CHSY1 LMBR1 RPS19 CANT1 ACTG1 ACTB TBX5 HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND FANCC FANCA RAB23 GDF5 FANCD2 NAA10 FANCE CHSY1 LMBR1 ESCO2 BMPR1B LEMD3 BCOR HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND SALL1 FGFR2 FGFR3 TWIST1 PPP2R3C NUP107 DACT1 PAH INTU FGF10 CHSY1 RPS19 CANT1 GLI1 TBX5 KIF7 HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND FGFR2 CANT1 TWIST1 PPP2R3C PAH KIF7 HP_ABNORMALITY_OF_THE_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_1ST_METACARPAL SETD5 NOG FZD2 ACVR1 PCNT GDF5 BMPR1B LMBR1 HOXA13 TRIO SETBP1 RAD21 SHH SMC1A NONO CANT1 IHH SALL4 HDAC8 GNAS VAC14 FIG4 NIPBL SMC3 KMT2A FANCI HP_ABNORMALITY_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_METACARPAL GLI3 BMP2 BMPR1B GDF5 RUNX2 SALL1 HP_ABNORMALITY_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_4TH_METACARPAL PIGS SRY GLI3 SHOX LBR GNAS SMOC1 DCHS1 FGF16 PTCH2 FERMT1 PTCH1 FBXL3 FLNA HOXD13 SUFU FAT4 HP_ABNORMALITY_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_METACARPAL LTBP3 CSPP1 FBN1 BMP2 LBR GNAS KIAA0586 FERMT1 NOG FLNA RUNX2 HOXD13 HP_SHORT_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_1ST_METACARPAL SETD5 NOG SETBP1 HOXA13 RAD21 FZD2 SMC1A ACVR1 PCNT CANT1 SALL4 GDF5 HDAC8 NIPBL SMC3 KMT2A FANCI HP_APLASIA_OF_THE_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_1ST_METACARPAL VAC14 LMBR1 FIG4 TRIO SHH HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL GLI3 BMP2 BMPR1B GDF5 RUNX2 HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL PIGS SRY GLI3 SHOX LBR GNAS DCHS1 PTCH2 FERMT1 PTCH1 FBXL3 FLNA SUFU FAT4 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL GNAS FERMT1 NOG FLNA BMP2 LBR RUNX2 HOXD13 HP_APLASIA_OF_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_METACARPAL_BONES SALL4 VAC14 GLI3 LMBR1 FIG4 RECQL4 TRIO SHH HP_DEVIATION_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_HALLUX TWIST1 USP7 FGFR1 PRDM5 LIMK1 RFC2 ZNF469 YY1 ELN ACVR1 MLXIPL NONO PTEN HOXA13 GTF2I TBL2 FGFR2 C2CD3 ERMARD NUP107 KCNN3 COL1A2 FGFR3 CLIP2 FHL1 B3GALT6 AEBP1 ATP6V1B2 SLC29A3 SF3B4 KCNH1 GDF5 IL11RA CHST11 ATL3 BMP2 USP9X BAZ1B ERF MYH3 DYRK1A BMPR1B CDKL5 SCARF2 HOXD13 AKT1 SRY TP63 RBBP8 GTF2IRD1 TCF12 FGF9 SLC16A2 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX HOXD13 MAP3K7 CANT1 VAC14 FIG4 PTHLH TBR1 FLNA HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE ACVR1 ABCC9 FGFR2 CANT1 TWIST1 HOXA13 NEK1 VAC14 FIG4 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX NXN BHLHA9 FGFR1 IHH BMP2 RAB23 DACT1 SALL4 GLI3 ACVR1 HOXD13 GPC4 FLI1 NEK1 GATA4 KIF7 FGFR2 SALL1 C2CD3 CTCF MAP3K7 EP300 SUMF1 ROR2 PTHLH CREBBP HYLS1 KCNJ8 IFT122 EFNB1 LMBR1 CANT1 VAC14 ABCC9 FIG4 TWIST1 TBR1 ACTB FLNA SATB2 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 HOXD13 MAP3K7 IHH VAC14 FIG4 PTHLH FLNA ACVR1 HP_BROAD_HALLUX_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_HALLUX_PHALANX SALL1 CTCF NXN FGFR1 BMP2 DACT1 SUMF1 ROR2 KCNJ8 SALL4 FGFR2 GLI3 EFNB1 HOXD13 GPC4 FLI1 ABCC9 GATA4 SATB2 HP_DUPLICATION_OF_PHALANX_OF_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_PHALANX_OF_HALLUX LMBR1 C2CD3 CANT1 EP300 NEK1 RAB23 TWIST1 CREBBP HYLS1 ACTB KIF7 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX HOXD13 MAP3K7 VAC14 FIG4 PTHLH FLNA HP_SHORT_PHALANX_OF_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHALANX_OF_HALLUX MAP3K7 IHH VAC14 FIG4 FLNA HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES FANCE FGFR1 DACT1 FANCM ERCC4 DMXL2 SMARCC2 ACVR1 TRPV4 GPC4 STXBP1 FANCL ARID1B RFWD3 FGFR2 MAP3K7 EP300 SMARCD1 ZMPSTE24 SUMF1 HYLS1 LMNA SCN9A BRIP1 LMBR1 SLCO2A1 PIGL TP63 PTEN HOXD13 MED25 RETREG1 PIGP FGFR3 BMP2 BMPR1B NOG BMPR1A SALL4 WNK1 KIF1A SOX11 SMARCA2 RAD51C BRCA2 GJB6 FANCF ROR2 PTHLH CREBBP KCNJ8 GNAO1 SCN2A HPGD TBC1D24 RIPK4 BRCA1 FIG4 ACTB GLI3 SLC25A22 CASK NXN PIGQ RHBDF2 SOX4 FANCG PNKP KCNH1 MAD2L2 SLX4 FLI1 NEK1 FANCC WDR19 GATA4 SIK1 SMARCB1 WNT7A COL3A1 SALL1 C2CD3 CTCF ARID1A FANCI KCNA1 SMARCE1 FANCD2 NOTCH2 EFNB1 CDKL5 CANT1 FANCA VAC14 ABCC9 GDF5 TWIST1 TBR1 UBE2A SATB2 BHLHA9 IHH RAB23 ARID2 XRCC2 SMARCA4 NEUROD2 TRIM8 KIF7 SOX9 UBE2T IFT122 ARX SCN1B PALB2 FANCB DPF2 FLNA RAD51 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 IHH BMPR1B NOG RAB23 SOX4 ARID2 KCNH1 SMARCC2 ACVR1 TRPV4 GPC4 SMARCA4 SOX11 ARID1B SMARCB1 WNT7A LMNA HOXD13 MAP3K7 ARID1A SMARCD1 PTHLH SMARCE1 PIGL VAC14 TP63 TBC1D24 RIPK4 GDF5 FIG4 DPF2 FLNA HP_BROAD_PHALANX_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHALANX_OF_THE_TOES CASK NXN FGFR1 PIGQ BMP2 BMPR1A DACT1 PNKP DMXL2 SALL4 GLI3 HOXD13 GPC4 NEUROD2 STXBP1 FLI1 WDR19 GATA4 TRIM8 SIK1 FGFR2 SALL1 CTCF SUMF1 KCNA1 ROR2 KCNJ8 ARX GNAO1 EFNB1 SCN2A CDKL5 SCN1B ABCC9 PTEN MED25 SLC25A22 PIGP SATB2 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 NOG SOX4 LMNA ARID2 KCNH1 SMARCC2 HOXD13 TRPV4 GPC4 SMARCA4 ZMPSTE24 SOX11 ARID1B SMARCB1 MAP3K7 ARID1A SMARCD1 PTHLH SMARCE1 CANT1 VAC14 RIPK4 FIG4 TBR1 DPF2 MED25 FLNA 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 TRPV4 FGFR3 IHH FGFR2 VAC14 RAB23 NOG FIG4 FGFR1 HOXD13 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 NOG SOX4 ARID2 KCNH1 SMARCC2 TRPV4 GPC4 SMARCA4 SOX11 ARID1B SMARCB1 HOXD13 MAP3K7 ARID1A SMARCD1 PTHLH SMARCE1 VAC14 RIPK4 FIG4 DPF2 FLNA 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 VAC14 RAB23 NOG FIG4 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 BGN FGFR3 NPR2 COG4 RUNX2 IFT52 NEK1 IFT172 TRPS1 GDF5 EIF2AK3 FLNA IFT140 COL2A1 EVC SRCAP KIF15 EVC2 PRKAR1A IHH ATR GPX4 TRIP11 EXT1 RMRP DYM 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 FGFR3 FGFR2 MEGF8 GJA1 FGF10 LMNA HP_SHORT_PROXIMAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER IHH BMPR1B FGFR3 MTOR COL2A1 GDF5 KIF15 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 VAC14 LMBR1 FIG4 TRIO SHH BMPR1B HP_STOMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATITIS TCIRG1 IL12A HLA-B ZBTB16 ELANE SRP54 LMBRD1 STAT5B PRKAR1A MVK FASLG NOD2 MEFV C4A IL12A-AS1 CASP10 UBAC2 FAS NUMA1 NABP1 ZAP70 IL10 RASGRP1 RARA IL1RN CARMIL2 PML STAT4 ITK IL23R KYNU DNAJC21 ERAP1 ORAI1 HYOU1 STAT3 CCR1 NLRP3 FIP1L1 IL17RC RHOH KLRC4 CD40LG IL6 RNF125 TBL1XR1 NCF4 TLR4 NPM1 PRKCD SBDS BCOR DCLRE1C EFL1 GFI1 PRKDC IRF2BP2 NLRP12 HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY TP63 IRF6 BTNL2 FGFR3 FGFR2 MSH6 MLH1 OGDH FGF10 CXCR4 ATP2A2 NOD2 HLA-DRB1 TCOF1 PLAG1 MSH2 GRHL3 HP_SHORT_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_HARD_PALATE DVL3 SNRPB WNT5A GLI2 DVL1 HP_APLASIA_HYPOPLASIA_OF_THE_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA FANCE FANCG FANCM ERCC4 XRCC2 MAD2L2 SLX4 FANCC FANCL RFWD3 RAD51C BRCA2 ROR2 UBE2T FANCF FANCI WDR35 NXN FANCD2 BRIP1 FANCA PALB2 BRCA1 FANCB RAD51 HP_PALATE_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALATE_FISTULA DLX4 CDH1 MSX1 DLG1 NECTIN1 IRF6 TP63 BMP4 ARHGAP29 HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE TCTN2 RPGRIP1 GLI3 DHCR7 PLCB4 MKS1 MYMK PRRX1 CC2D2A TMEM67 TMEM231 PLXND1 TBX15 OTX2 BMP4 RBBP8 RPGRIP1L VPS13B TMEM107 PTDSS1 SMO GNAI3 CEP290 COL7A1 REV3L NEK1 EDN1 CEP55 B9D2 ECM1 TMEM216 WDPCP TRIM37 B9D1 CSPP1 LMNB2 HP_ANKYLOGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOGLOSSIA RSPO2 NXN LAMB3 TELO2 ROR2 COL7A1 TBX22 CRKL FAM111A LAMA3 MMP1 BCR MAPK1 LAMC2 HP_BIFID_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_TONGUE NXN FZD2 CEP120 DHCR7 RIPK4 WDR35 DYNC2H1 WNT5A NEK1 DDX59 IFT80 FRAS1 C2CD3 WDR60 DVL1 FREM2 DVL3 ROR2 OFD1 ALX3 MCTP2 GRIP1 WDR34 HP_ABNORMALITY_OF_DENTIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTIN ZNF469 CDH11 SMOC2 COL1A1 DSPP COL1A2 PPIB SEC24D IFITM5 FKBP10 TRIP11 SERPINH1 HP_ABNORMALLY_LOW_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LOW_PITCHED_VOICE SETD5 SUZ12 EZH2 RAD21 GRIN2A SMC1A HDAC8 TRPS1 EED SRPX2 NIPBL SMC3 KMT2A NSD1 HP_SPINAL_CORD_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_TUMOR NF2 LZTR1 NF1 CCND1 VHL C11orf95 RELA FLI1 SMARCB1 HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY TGFB3 ACTA2 LOX NOTCH3 SMAD3 SMAD4 PRKG1 MAT2A FBN1 MFAP5 FOXC2 TGFB2 TGFBR1 FOXE3 TGFBR2 ELN MYH11 MYLK HP_ABSENCE_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_THE_SACRUM CCL2 TBXT VANGL1 FUZ VANGL2 ZIC3 HAAO FANCB PTH1R HP_SHORT_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THORAX RIPPLY2 CCDC8 OBSL1 BMPER FGFR3 DYNC2LI1 DYNC2H1 FREM2 TRPV4 CUL7 TRAPPC2 IFT80 WDR60 RMRP HES7 LFNG DDRGK1 SLC26A2 WDR34 NEU1 COL2A1 TRIP11 SLC10A7 KLHL7 DNAJC21 DYM IFT52 TBX6 EVC2 WDR35 IHH WDR19 PTH1R EIF2AK3 ASXL1 GLI1 EVC IFT140 IFT172 ACAN SRP54 MESP2 SBDS ORC6 SLC2A1 DLL3 FLNA EFL1 CEP120 TTC21B HP_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIDOR VPS33A MYO9A D2HGDH FLNA MAP3K7 COQ2 SLC18A2 GTPBP3 VAMP1 COL13A1 AGRN SCN4A TRPV4 SNAP25 TSPYL1 CHAT SERPING1 SCARF2 PAX8 SLC5A7 SYT2 SLC18A3 GNPTAB SLC25A1 SLC52A3 PLP1 IGHMBP2 HP_CHYLOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHYLOTHORAX BTNL2 CCBE1 FAT4 TSC1 ADAMTS3 TSC2 CBL PIEZO1 HLA-DRB1 KIF11 HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS BMP15 YY1 PROKR2 NSMF CHD7 FGFR1 PLXND1 ESR1 IKBKG FSHR TWIST2 FSHB GNRHR CDT1 DCC TP63 FGF17 WDR11 SOX10 KISS1 TAC3 LHX4 ANOS1 ORC1 CDC45 BNC1 TACR3 CDC6 ANTXR1 HESX1 SPRY4 PROP1 KCTD1 GMNN FGF8 SOX3 EFNB1 SEMA3A SPIDR USP9X POLR3H ORC6 PSMC3IP FLRT3 LMNA OTX2 KISS1R GNRH1 NR5A1 NIN CCDC141 HS6ST1 PROK2 GLI2 MRPS22 IL17RD TBX3 ORC4 DUSP6 REV3L FOXA2 ACTB NUP107 FEZF1 POU1F1 POC1A MAF HP_PREMATURE_THELARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_THELARCHE KMT2D MMP2 MKRN3 EP300 MMP14 TANGO2 KDM6A 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 COL5A2 LZTR1 RIT1 PTPN11 CHRM3 MRAS FBN1 CANT1 COLEC11 FLNB RAF1 SLC25A24 CBL GPC4 COL1A1 RRAS MANBA CHRNG ATP7A A2ML1 KRAS RMRP COL5A1 GPC3 RRAS2 DIS3L2 SKI BRAF RASA2 MCOLN1 SOS2 NRAS SOS1 COL3A1 ACTG2 MYH3 XYLT1 CD96 HP_ABNORMALITY_OF_THE_2ND_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_TOE PTCHD1 ACSL4 FRMPD4 GDF5 ARHGEF6 BMP2 ZNF711 CLCN4 BMPR1B DLG3 ALG13 CXorf56 AGTR2 TSPAN7 SYP FTSJ1 BCOR IQSEC2 MECP2 PAK3 USP9X USP27X GDI1 DMD UPF3B SLC9A7 CNKSR2 CHSY1 ARX RPS6KA3 MID2 MED12 TBC1D24 ZNF41 IL1RAPL1 PIGL ZNF81 RAB39B HCFC1 HP_ABNORMALITY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_TOE TRMT10A DYNC2LI1 DYNC2H1 TCTN2 RPGRIP1 SOX4 DHCR7 TMEM231 BMP4 PIGH BBS2 SMOC1 SMARCC2 SC5D GLI3 ARID1B DDX59 ALG3 SMARCB1 RNF6 C2CD3 ARID1A SMARCD1 CIBAR1 FREM1 PPP1R15B RPGRIP1L KCNJ2 SMARCE1 CEP290 SETD5 EXTL3 CHSY1 NEK1 WDR34 LMBR1 CEP55 B9D2 CKAP2L WDPCP HOXD13 EVC B9D1 SALL1 KIAA0825 MKS1 ARID2 WDR60 CC2D2A TMEM67 SMARCA4 WDR19 SOX11 KIF7 TMEM107 NPHP3 TGFBR2 IFT140 IFT172 WWOX EVC2 MKKS IFT80 TMEM216 CD96 PLAA DPF2 CSPP1 CEP120 DLEC1 LBR TTC21B HP_DEVIATION_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_5TH_TOE TRMT10A CKAP2L TGFBR2 PPP1R15B KCNJ2 PIGH ALG3 WWOX SALL1 RNF6 CHSY1 DLEC1 HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY KMT2D NKX2-1 CTBP1 NDUFS1 LIMK1 LIPT1 MPLKIP DSG1 NEK9 FBN2 AFF4 ARID1B GPC3 ELN NDUFS8 ECHS1 DDX11 KRAS NDUFS7 MED13L MED25 DYNC2LI1 MYRF TTC37 SALL4 NSD1 FGFRL1 MMP14 CHD7 TBX1 PEX1 GATA4 NFIX TTC7A KANSL1 PET100 NDUFAF2 DGCR8 EVC CRB2 PEX6 SHOC2 ROR2 WDR26 CCDC174 GJA1 COL11A2 FADD FIBP SPECC1L CACNA1C HRAS SLC25A22 RNF113A MYBPC3 CEP57 SEMA3E MGP PIGQ ESS2 PIEZO2 CKAP2L LRP2 CALM3 PEX10 FLI1 GPC4 INSR RAD21 C2CD3 ACADVL PLAGL1 SNRPB SOX2 NKX2-5 SLC19A2 ARVCF AKT3 WDR60 FOXC2 RERE DGCR6 PEX12 MAPK1 MASP1 GLA FANCI CTU2 FGFR1 BRF1 NDUFV1 RAI1 RAB23 FOXF1 VPS33B FOXRED1 EVC2 UBR1 WNT4 EXT2 KAT6A HYMAI ALKBH8 STAMBP SDHA PIK3R2 MEOX1 SMC1A GTF2IRD1 UFD1 ARX LETM1 MED12 SLC19A3 CCND2 PEX14 PORCN RFC2 DMXL2 FLNB NOTCH3 ADAMTS10 GATA6 PPP2R5D MEIS2 EP300 NDUFA12 NSD2 ANKRD11 MMP2 CLIP2 COMT PIGP SKIV2L JMJD1C SYNE1 RPL5 ERCC3 LRP5 EFTUD2 UMPS HIRA BCR CPLX1 MYL2 RAC1 CREBBP OTUD6B TMEM94 NR2F2 GNAO1 RPL35A CHRM3 ATRX ZEB2 PTPN11 MT-CYB TARS1 COX15 TAB2 SIX6 NUP107 LARS2 VPS13B NDUFA10 RNU4ATAC TALDO1 FBN1 KCNA1 PEX13 SETD5 DGCR2 NEK1 CDKL5 STRA6 NODAL MTFMT NAA10 XYLT2 KMT2A NDUFA2 RPS26 PKD1L1 RPL10 CEP290 ABL1 TFAP2B NDUFA4 CDC45 SEC24C BSCL2 CCDC22 NEUROD2 TNFRSF11A IGF1R SOS1 TAPT1 FTO NDUFA9 GDF1 ERBB3 PEX2 FGFR2 HDAC8 THOC6 SOX4 SHANK3 DHCR7 GPC6 NDUFAF6 PHGDH GATA5 KAT6B STXBP1 IFT172 DTNA PPP1CB PEX16 GDF6 TGFB3 NUP188 POLA1 SMG9 NDUFA13 PIGL TBX5 B3GALT6 AMER1 NIPBL B3GLCT GTF2H5 GLI3 SALL1 CHD4 COX7B TBCK CANT1 ARHGAP31 PEX5 TXNL4A RREB1 GDF3 ECE1 HOXA13 UBE3B LONP1 YY1AP1 PEX26 BMP2 LBR PAH TBX3 WASHC5 SCN2A MKKS EOGT FIG4 SMC3 GTF2E2 PEX19 CASK RSPO2 NXN TP63 NKAP TCTN3 ASXL1 NRXN1 MLXIPL NDUFAF5 PSMD12 BCOR RPL15 ZIC3 UBE2A DVL3 ACVR2B BAZ1B CCBE1 TRIM8 SLC29A3 NDUFB11 RARB GP1BB NONO NOTCH2 JAG1 TACO1 TET3 PEX11B RIT1 CDK8 GTF2I MAP2K1 NDUFV2 HYLS1 ESCO2 IGBP1 CHST3 CRKL IFT81 SURF1 PALB2 LTBP2 CDK13 SF3B4 UQCRFS1 DPH1 TMEM260 PQBP1 PUF60 GLI1 CACNA1D VIPAS39 BRAF ARCN1 ERCC2 GYG1 PDHA1 CD96 NOTCH1 XYLT1 TRAIP PACS1 PIK3CA PNKP TKT NDUFS3 NDUFS2 NDUFS4 DLL4 MGAT2 CNTNAP2 DNAJC19 SIK1 TBL2 TGDS MAP2K2 HCCS RBM8A WT1 MYPN VAC14 SMN1 TCIRG1 CWC27 PEX3 SMAD4 RPL11 CITED2 RPS19 SCN1B KDM6A HP_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYDACTYLY DYNC2LI1 CTBP1 GLI3 TMEM231 IQCE KCNAB2 WDPCP DDX59 LMBR1 GPC3 ARL6 MKS1 KIAA0586 CC2D2A FGFR2 CEP55 IFT27 PORCN TMEM138 IFT80 HOXD13 SALL4 FGFRL1 SMO CHD7 COLEC10 GLI2 IFT43 WDR35 CEP41 PTCH1 NCAPG2 ZSWIM6 EVC CRB2 B9D1 TRIM32 IFT172 GJA1 RAI1 PITX1 TFAP2A FGFR3 SEMA3E RPGRIP1 CEP120 INPP5E BBS2 TCTN2 FLI1 NEK1 GPC4 INSR PIK3CA SUFU C2CD3 BBS4 MEGF8 OFD1 CEP290 AKT3 RPGRIP1L ARVCF ARL3 WDR60 UQCC2 KIF7 CTU2 IQSEC2 SKI RAB23 TCTN1 EVC2 MKKS TMEM67 WDR19 CPLANE1 WNT7A TRAF3IP1 EBP LZTFL1 PIK3R2 AHI1 ARL13B TMEM216 HNRNPK CEP104 UFD1 LETM1 TMEM237 CCND2 TTC21B RBM10 GDF6 SH2B1 TBX1 NKX2-5 BBS10 EP300 NSD2 ARMC9 ACOX1 EXTL3 DEAF1 BBS9 COG6 PDE6D ALX3 COMT TWIST1 JMJD1C BMPR1B HESX1 PLAA EFTUD2 MAFB GLI1 FLNA HIRA TGFBR2 NELFA CPLX1 CREBBP WDR34 CSPP1 PHF8 C8orf37 TTC8 PNPLA6 PPP2R1A GDF5 DYNC2H1 LHX4 TCTN3 SETD5 CEP164 CHSY1 EFNB1 PTCH2 PIBF1 BLM CILK1 PTEN TFAP2B USP9X INTU CDC45 SEC24C BMP4 TMEM107 COL2A1 POU1F1 HOXA13 DHCR7 SC5D STAG2 SETBP1 IFT74 CIBAR1 CCDC28B FBLN1 BBS7 ZIC3 SALL1 PRDM16 BBS5 CHST11 KIAA0825 PROP1 IFT52 NPHP1 MBTPS2 RREB1 GJB6 ADNP IFT140 LBR TBX3 HYLS1 TMCO1 FAM149B1 B9D2 BBS12 RERE KIAA0556 IFT57 KIAA0753 NEK9 FANCB CHN1 CENPF ABCA12 SHH BHLHA9 NPHP3 SMOC1 FGF10 GP1BB ZNF423 DACT1 SDCCAG8 ZNF141 IFT81 TCTEX1D2 CDCA7 FOXA2 BBS1 CD96 WASHC5 FLII NKX2-6 CCDC22 GABRD BBIP1 GATA6 OTX2 TGFBR1 PUF60 HP_PULMONARY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INSUFFICIENCY DNAL1 FOXF1 SFTPC ABCA3 FAM13A STN1 DSP RTEL1 TERT ATP11A GNPTAB COL1A2 TERC PARN DPP9 EFEMP2 MUC5B ADA SFTPA1 SFTPA2 COL1A1 INVS HP_ESOPHAGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STENOSIS ACD LAMB3 TERT NHP2 RTEL1 COL7A1 NOP10 DKC1 PARN MMP1 LAMC2 USB1 TINF2 CTC1 IKZF1 HLA-B FERMT1 NPM1 TERC SAMD9 LAMA3 WRAP53 HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN STIM1 DNAJB13 RSPH1 TCTN2 SPEF2 RPGRIP1 CCDC40 SPAG1 WNT3 MKS1 FOXJ1 MCIDAS ZMYND10 GAS2L2 TWIST1 DNAH1 CCDC151 RPSA CCDC39 ARMC4 DNAL1 TTC25 DNAAF2 CEP290 DNAI2 STRA6 CEP55 B9D2 DRC1 FAM111A NEK10 WDPCP CFAP221 SAMD9 ZIC3 B9D1 RSPH3 LRRC6 AIRE DNAAF1 DNAI1 DNAAF5 CCNO RPGR MYCN RSPH9 STK36 FOXF1 DNAH9 HYDIN CC2D2A TMEM67 TMEM231 DNAAF6 OFD1 RSPH4A DNAH5 ORAI1 CCDC114 CCDC103 RPGRIP1L LRRC56 DNAAF4 NME8 GAS8 TMEM107 TTC12 NEK8 NPHP3 GDF1 CCDC65 CFAP298 DNAAF3 TMEM216 CFAP300 ATRX CSPP1 DNAH11 HP_ACETABULAR_SPURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_SPURS DYNC2H1 WDR60 COL2A1 EVC EVC2 HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY FGFR3 CFAP410 SLC26A2 COL2A1 EXTL3 INTU COL11A1 SBDS GPC4 GPC3 GPX4 PCYT1A ALG9 GUSB SRP54 DYM DNAJC21 DDRGK1 HP_FEMALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_PSEUDOHERMAPHRODITISM SPECC1L NR3C1 AR CYP19A1 FRAS1 GRIP1 CD96 FREM2 HP_TRUE_HERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUE_HERMAPHRODITISM TMEM107 TCTN2 RPGRIP1 SOX9 MKS1 CEP290 NR5A1 WT1 CC2D2A TMEM67 TMEM231 CEP55 B9D2 TMEM216 SRY WDPCP RPGRIP1L B9D1 CSPP1 HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA PLIN1 CTBP1 CTNNB1 LIMK1 FMR1 SDCCAG8 INSR EIF2B4 IL17F F7 HNF1A FGFR1 KCNAB2 ESR1 FANCL FGF20 ARID1B FSHR PTEN STK11 FSHB EPCAM ARL6 KISS1 ELN UBE3B CASP10 RELA AARS2 CDH1 PWAR1 BRIP1 NR0B1 FGFR2 ATR PORCN MSH6 GATA3 DYNC2LI1 WRAP53 SPRY4 KIF14 DMRT1 CHRNG MYRF TACR3 FGF8 DLC1 FGFRL1 ATM FGF17 MMP14 HSD3B2 CHD7 ORC6 HCCS PEX1 WDR35 MTM1 AKT1 NUP107 NR5A1 MLH3 PTCH1 MSH2 FIGLA MSH3 ERAL1 PLG ANOS1 EVC PEX6 TRIM32 PIK3CA ROR2 TWIST2 LIPE PALLD CDKN2A POLR1D SPECC1L SETBP1 BMPR1B ITGA8 SEMA3E AR BMP15 BSCL2 POLG LMNB2 TP53 LRP2 SLX4 DICER1 PALB2 PEX10 ESCO2 WT1 WRN FRAS1 PMS2 GNRHR FASLG DVL1 FANCB LMNA WDR11 BBS4 PLAGL1 SMAD4 IL10RB RAD21 CORIN CEP152 BUB3 RSPO1 MNX1 GREB1L ARVCF FANCA INVS KIF7 NDN PEX12 SMCHD1 PTPN11 SKI RAB18 SDHC SOX9 FLRT3 EVC2 MKKS XRCC2 TBC1D20 UBR1 KISS1R FOS B3GLCT CCDC141 TOE1 CYB5A HYMAI CXCR4 DCAF17 PPARG UBE2T WNT5A HFM1 AGPAT2 TINF2 SRY MAGEL2 NPHP1 SMC1A PMM2 HS6ST1 GTF2IRD1 ACTB UFD1 LETM1 SNORD115-1 MYH3 PEX14 CEP57 RIPK4 FANCM RFC2 ERCC4 PTPRJ POLD1 DCC RAD50 TSC1 CCNQ BBS10 EP300 SOX10 RAB3GAP2 LFNG OFD1 SPINT2 NSD2 PROKR2 IRF6 BBS9 SNRPN PDE4D MMP2 CLIP2 COMT POR BBS2 HESX1 VAMP7 MRE11 GMNN JMJD1C POLR3H MCM3AP GNAS SOX3 STAT6 LZTFL1 TTI2 PEX5 DMPK HIRA LEP BRCA1 BRCA2 DVL3 PAX6 CPLX1 NSUN2 JAK3 PMS1 CREBBP FOXL2 POLR1C SEC23B LHB WDR34 DUSP6 CHRM3 MEN1 BUB1B PLA2G2A HOXD13 RNF43 CBX2 TERT MT-CYB WNT3 LEPR MKS1 ALMS1 PEX2 BMPR1A MAD2L2 GREM1 SLC25A24 IQCB1 PPP2R1A C11orf95 TALDO1 DYNC2H1 TCTN3 EIF2B1 PRLR CAV1 STRA6 PEX13 PRKN TGFBR2 IL17RA CDC45 BNC1 CDC6 PTCH2 TBX1 LARS2 PWRN1 RPS20 BUB1 CLPP KMT2A CYP17A1 TRAF3IP1 STOX1 TNXB MYC PSMC3IP INTU SEC24C BMP4 FAS CCND1 NSMF PRKAR1A ODC1 MRPS22 HNF1B CTC1 RCBTB1 COL7A1 SRC RET SMAD3 ISL1 HDAC8 THOC6 SDHD TTC8 RSPO2 RIPPLY2 FANCE DHCR7 RAB3GAP1 WNT4 PHGDH EIF2B3 IL17RC NAB2 KEAP1 NOP10 RECQL4 IFT80 PEX16 RBM8A RFWD3 NPHP3 RAD51C STAG3 SALL4 HES7 MAP3K1 NIN ZFPM2 CCDC28B WWOX COX7B SETD2 AURKA NIPBL IDH2 HNF4A GLI3 SALL1 CDKN1B PRDM16 FZD2 BBS5 DHX37 ARHGAP31 MCM8 RREB1 PROK2 CYP11B1 FLCN HOXA13 IL17RD FANCF LONP1 PEX26 TBX3 NPAP1 TRIP13 MESP2 HYLS1 NBN FIG4 SMC3 CEP290 PEX19 NXN CYP19A1 NOBOX FANCG RERE ANTXR2 TBX15 CYP11A1 DIAPH2 RAD51D WDR60 KRAS FLT1 COL3A1 FREM2 FANCI BCOR TWNK PIGN FANCD2 ORC1 TP63 PDGFRL AXIN2 CDH23 DHH SEMA4A NRAS CHEK2 BAZ1B RTEL1 EWSR1 EIF2B5 TLR2 ATIC NDP CDC73 EIF2B2 SF3B4 FREM1 GATA4 WDPCP NDUFB11 TGFBR1 HERC2 RARB TSC2 GP1BB BAX TRAF3IP2 BBS12 CAVIN1 FAN1 RAD51 GALT NPHP4 DACT1 MLH1 PEX11B PCNT KLLN FH B4GALNT1 MSX1 LIG4 IFT27 WNT7A GTF2I FLI1 MCC TAC3 FGFR3 AXIN1 POF1B RASGRP1 NTHL1 NPM1 ECEL1 AIRE BBS7 INHBA SPIDR TCOF1 TBX6 POLE AKT2 KAT6B RIN2 CEP164 SRD5A2 GLI1 BARD1 ORC4 GRIP1 MKRN3 DLL3 BBS1 CD96 ALG9 TERC POC1A PTPN12 SETD5 PAX3 TRAIP IDH1 SNORD116-1 CIDEC FANCC PARN RAD54B TBL2 SDHB CTCF SLC6A17 C8orf37 NR3C1 DHCR24 GABRD DMRT3 VAC14 USF3 AIP SEMA3A BBIP1 NHP2 GNRH1 PEX3 ESR2 CDT1 IFT172 WDR19 USB1 SOHLH1 CLEC7A OPCML PRKCD MAMLD1 APC DKC1 WNT10A FEZF1 RPS6KA3 SUFU USP8 HP_APLASIA_HYPOPLASIA_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY BMP15 MKS1 LEPR CHD7 NR5A1 FGFR1 WT1 MKKS FSHR IFT27 SRY BBS10 SDCCAG8 GNRHR WDR11 BBS4 KISS1 C8orf37 TAC3 MAP3K1 NPHP1 PROKR2 ANOS1 ZFPM2 BBS9 BNC1 WWOX NR0B1 DMRT3 BBS2 VAMP7 ARL6 SPRY4 TACR3 PTPN11 TP63 BBS7 FGF17 BBS5 DHH SPIDR BBIP1 POLR3H PSMC3IP DHX37 LZTFL1 GNRH1 MCM8 LEP PROK2 FGF8 NSMF GATA4 WDPCP IFT172 PAX6 TRIM32 DCAF17 MRPS22 SOX9 PMM2 HS6ST1 BBS12 KISS1R DUSP6 NUP107 BBS1 CEP290 SETBP1 TTC8 HP_STREAK_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STREAK_OVARY DHH SPIDR BMP15 POLR3H PSMC3IP DHX37 NR5A1 WT1 FSHR SRY GATA4 PAX6 MAP3K1 DCAF17 MRPS22 SOX9 ZFPM2 BNC1 WWOX NR0B1 DMRT3 NUP107 VAMP7 SETBP1 HP_ABSENT_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TESTIS GDF6 FANCE UBE2T FANCF FANCI TCTN3 FANCG FANCM ERCC4 FANCD2 XRCC2 BRIP1 MAD2L2 SLX4 FANCA FANCC FANCL PALB2 BRCA1 FANCB RFWD3 RAD51C BRCA2 RAD51 HP_OLIGOSACCHARIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSACCHARIDURIA SNX14 NEU1 FUCA1 OCRL MAN2B1 MIR140 MANBA HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER PLEC ITGB4 WNT4 ITGA6 GRIP1 FREM2 MKS1 MBTPS2 HP_URETHRAL_VALVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_VALVE SALL1 HPSE2 SRCAP DACT1 BNC2 CHRM3 IGF2 HP_HYPEREXTENSIBILITY_AT_ELBOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_AT_ELBOW SON IFITM5 SMC1A COL5A1 KMT2A HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES DOK7 NALCN CHST14 SLC18A3 MYOD1 MUSK PLOD3 PIEZO2 MYH3 AUTS2 RAPSN DSE SLC39A13 NUP88 HP_ABSENT_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PALMAR_CREASE DOK7 NALCN SLC18A3 MYOD1 RAPSN MUSK SLC39A13 PIEZO2 NUP88 MYH3 HP_SIRENOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIRENOMELIA ITGA8 TBC1D24 FGF20 PTEN GREB1L AKT1 RET DACT1 HP_PATELLAR_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_SUBLUXATION COL12A1 FBN2 USP9X TBC1D7 YY1 HP_HYPEREXTENSIBILITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_KNEE COL1A2 KRAS FGD1 GRIA3 WASF1 ANO5 B4GALT7 PTEN CANT1 AP4E1 AP4B1 FGFR3 COL5A1 CTDP1 SH3PXD2B COMP CDT1 SKI NRAS SLC6A9 AP4M1 FBN1 HRAS MCOLN1 TRIP11 XYLT1 AP4S1 HP_FIBULAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_BOWING VDR SLC34A3 CYP27B1 PHEX CYP2R1 FGFR3 CLCN5 HP_METATARSUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_VALGUS RXYLT1 POMK FKTN LARGE1 GDF5 POMGNT2 INPP5K HSPG2 TGDS POMGNT1 SIL1 POMT1 FKRP B3GALNT2 POMT2 B4GAT1 BMPR1B PTEN COL4A1 DAG1 AKT1 CRPPA HP_LONG_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TOE SMS KCNH1 NPR2 NSDHL GATAD2B GNE SOX5 B4GALT7 COL6A1 FIBP COL6A3 FLI1 FBN1 SCARF2 PUF60 FAM20C COL6A2 COL12A1 TBX4 TMEM94 POLR3A CPT2 LARS1 PRKAR1A IRX5 PHF8 XYLT2 HP_HYPERPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPITUITARISM MSTO1 TAF4B BAP1 TEX15 TERT NR5A1 SMO MEN1 ESR1 FSHR XRCC2 STAG3 LHCGR POLA1 MAP3K1 ZFPM2 CTNNB1 KISS1R WWOX SLCO2A1 SYCP3 SOHLH1 FANCM VAMP7 CDKN1B PRLR HSD3B2 GPR101 SPIDR POLR3H PIK3CA DHX37 BRAF MEIOB HSD17B4 MCM8 FMR1 GDF9 SMARCB1 ERCC6 SRY AIP SOX9 FOXL2 AKT1 CYP17A1 CYP11A1 WT1 SYCE1 DHH KLHL10 CBX2 BMP15 BSCL2 POR PPP2R3C PRKAR1A CAV1 AR POLR3A BNC1 ZMYND15 NR0B1 DMRT3 CDH23 NANOS1 PSMC3IP PDGFB NSMCE2 GNAS FOS ESR2 SMARCE1 CYB5A TEX11 HPGD TRAF7 GATA4 CFTR MRPS22 CYP11B1 SUFU HFM1 TEX14 AGPAT2 CDKN1A CNBP PMM2 CDKN2B PPARG CAVIN1 CDKN2C NUP107 TDRD9 NF2 HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS TTC37 AK2 SKIV2L ATM JMJD1C SEMA3E CHD7 RORC TBX1 TCOF1 RAG1 NEK9 G6PC3 SEC24C PEX5 WIPF1 ANTXR2 TTC7A IL2RG DCLRE1C HIRA RREB1 RAG2 POLR1C GP1BB ARVCF POLR1D UFD1 COMT ADA TP63 WAS HP_DYSLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSLEXIA C9orf72 PLA2G6 OPA3 PNKP GRN CACNA1H DNAAF4 TREM2 CHMP2B GABRG2 MAPT PSEN1 SARDH SLC2A1 SQSTM1 APC TMEM106B STIM1 JRK GCLC GABRB3 VCP GABRA1 HP_ALEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALEXIA GRN C9orf72 TREM2 CHMP2B MAPT TMEM106B VCP PSEN1 HP_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGNOSIA TYROBP PSEN2 ATP6AP2 TREM2 SEMA4A KRAS GRIN2A GRN ABCA7 APP TOMM40 MLH3 MSH2 SORL1 PMS2 TGFBR2 PSEN1 BMPR1A EPCAM CHMP2B MSH6 PMS1 MAPT TMEM106B PIK3CA RPS20 FAN1 C9orf72 MLH1 HP_FINGER_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_AGNOSIA PSEN2 APP TOMM40 SORL1 TREM2 ABCA7 PSEN1 HP_DYSGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGRAPHIA PSEN2 C9orf72 KRAS LIMK1 RFC2 GRN ABCA7 APP NF2 TOMM40 MAPT VCP GTF2I SORL1 PMS2 TREM2 TGFBR2 PSEN1 BMPR1A TBL2 EPCAM ELN TMEM106B CLIP2 RPS20 SPG21 TMEM240 SEMA4A BAZ1B CHMP2B VPS13A MLH3 MSH2 SQSTM1 MSH6 PMS1 GTF2IRD1 PIK3CA FGF14 FAN1 MLH1 HP_ECHOLALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECHOLALIA PLEC C9orf72 ATP6AP2 EHMT1 HDC HCCS MAPT KRAS SLC35C1 FGFR1 COL1A1 TCF4 TREM2 CHMP2B SLC25A13 SMARCA2 GRN PUF60 HERC2 NDUFB11 UBE2A RAI1 SQSTM1 TMEM106B FLCN ACTG1 COX7B ADAMTS2 CKAP2L ACTB COL1A2 PSEN1 VCP NAGS SLITRK1 AMER1 HP_TRANSIENT_GLOBAL_AMNESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_GLOBAL_AMNESIA SMARCB1 HCRT BAP1 SUFU MEN1 PDGFB PIK3CA TERT TNFSF4 AKT1 ZNF365 SMO SMARCE1 HLA-DRB1 NF2 MOG HLA-DQB1 CTSH TRAF7 P2RY11 HP_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_APNEA TWIST1 MYO9A NALCN CCDC47 NEFH PLCB4 ATN1 VAMP1 GNE AGRN TRPV4 FGFR3 SNAP25 SYT1 AFF4 NGLY1 TCF4 EP300 PIGT RPS6KA3 GABRG2 NADK2 SRPX2 CTNNB1 UNC80 GNPTAB SNRPN PWAR1 POGZ GRIN2A PRPH FGFR2 GPR101 LTBP3 SH3BP2 DNA2 BRAF PCGF2 DMPK SOD1 DKK1 SLC5A7 BMP2 COLQ CREBBP NPAP1 IDS MKRN3 PHOX2B IDUA ARCN1 SLC25A1 P4HTM HRAS RET DPH1 GSN CEP57 USP7 COQ2 COL13A1 SNORD116-1 PRPS1 AIP CHAT C2CD3 NFIX GNAI3 SLC18A3 FLCN RERE PWRN1 NDN AHDC1 RUNX2 ASCL1 MAGEL2 TSPYL1 SKI RAI1 HERC2 SYT2 LAMB2 PRMT7 EDN1 NONO LARP7 SNORD115-1 FXR1 COL3A1 DCTN1 HP_CENTRAL_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SLEEP_APNEA MYO9A SLC5A7 USP7 COQ2 CCDC47 PIGT SYT2 NADK2 VAMP1 COL13A1 PRPS1 SLC18A3 AGRN PHOX2B NGLY1 ASCL1 SLC25A1 FGFR3 SNAP25 RET CHAT DKK1 HP_WIDE_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_CRANIAL_SUTURES ACE RBM10 CYP2R1 BANF1 REN VDR ZMPSTE24 MED12 MSX2 FAT4 CRTAP SETBP1 POLR3A ALPL DCHS1 LMNA PEX1 VAC14 SLC34A3 CYP27B1 FIG4 AGT AGTR1 ALDH18A1 HP_OPSOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPSOCLONUS SNX10 TCIRG1 TNFSF11 KIF1B CLCN7 HP_VERTICAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_NYSTAGMUS MRE11 CACNA1A COQ2 TTBK2 AHDC1 ANO10 PEX5 PIGN HP_MUSCLE_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBRILLATION IFRD1 TBCD EXOSC3 SLC52A2 SH3TC2 HSPB1 MTMR14 KCNK9 NOP56 MYF6 ASAH1 ATXN3 TSPYL1 SMN1 HINT1 SMN2 OPTN DNM2 DYSF VCP SLC25A21 UBA1 RMND1 SLC52A3 RYR1 FXR1 AGTPBP1 BIN1 AIFM1 TRAK1 ADPRS HP_MUSCLE_FLACCIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FLACCIDITY PLEC SCN4A UBE3B KCNJ18 PEX6 INPP5K SIL1 CACNA1S COL1A1 KCNE3 COL1A2 LAMP2 PEX1 GABRA3 HP_PERCUSSION_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERCUSSION_MYOTONIA CAV3 DNAJB6 CLCN1 PRPS1 SCN4A HINT1 CAVIN1 HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION RD3 MICOS13 LRP4 NDUFS1 SLC12A6 LIPT1 SOX3 MPLKIP KCNJ13 KCNAB2 ARHGAP31 MT-CO1 SUOX EPCAM ARX NOTCH3 PEX7 MEFV IFT140 ATP1A3 MAG NDUFS8 IL12A-AS1 CTLA4 PNPLA8 ECHS1 CLTC COASY NDUFS7 ATRX MED13L WASHC5 PNP SLC2A1 TSC1 ADA2 PCYT1A MT-TC FGF8 DPYD LIMS2 WDR4 RAB3GAP2 REEP2 CCR1 MT-ATP8 MT-TK MT-TL1 MT-ND4 MLH3 MSH2 EXT1 PET100 NUP133 AIPL1 KLRC4 AP4E1 NDUFAF2 ANOS1 KIF1A CFH NUP62 COL3A1 WDR45 GJA1 MT-TQ AKT1 SDHB SLC33A1 HPRT1 TTPA NT5C2 RNF113A MRAP KDM5C SPG11 SCN1A UCHL1 TLR3 DOCK6 REEP1 GBE1 PHYH NUP107 MAN2B1 GJC2 L1CAM UBAP1 ALDH18A1 MT-CO3 KIF5A SARDH PAX3 TREX1 NADK2 C4A DLL4 COL4A2 CKAP2L PNPLA6 DSTYK SQSTM1 LAMB1 FA2H MTPAP PRRT2 NDUFV1 DDHD2 TPP2 SKI COL4A1 PNKP WDR45B RBPJ FLRT3 FOXRED1 IQCB1 CRB1 KISS1R KY NF1 CCDC141 SPP1 RNASEH2B BCAP31 USP8 HLA-DPB1 SDHA PRPS1 TNFRSF11A RDH12 SUFU FARS2 TFG TECPR2 ABCA1 TUBB2B MT-TH SDHD NAGS NF2 FAS ZFYVE26 CTC1 CEP290 AP4B1 SLC19A3 C9orf72 HACE1 TARDBP STAR RNF216 GPT2 IL12A AP5Z1 PRF1 SDHAF1 TTC19 ALS2 C12orf65 SMO LCA5 SELENOI DCC MT-TW IDUA GCDH SOX10 AIFM1 NDUFA12 BAP1 B3GALNT2 TSC2 CYP2U1 FGFR1 HESX1 STAT4 KLC2 ZFYVE27 SLC25A15 C19orf12 IL23R TULP1 ERCC3 PDGFRB ERAP1 WDR62 ATP13A2 ENPP1 MT-TS2 NEK1 SPG7 PDHX OSGEP NOTCH1 ADAR IFIH1 CARS2 MSH6 PMS1 CFHR1 ATP1A2 SMARCB1 MT-ND5 UGP2 ARSI IRAK1 PRTN3 MT-ND6 GALC HLA-B HSPD1 MT-CYB TARS1 COX15 PROKR2 ERLIN2 PRNP SPART HINT1 MT-ATP6 FGF17 NDUFA10 GUCY2D ARG1 RNASEH2C KIDINS220 CCT5 MTFMT MEOX1 CPT1A RPS20 CCDC88C NDUFA2 ABCC6 MT-CO2 NIPA1 KCNJ18 NDUFA4 GNAQ PAH PEX3 SNORD118 ARFGEF2 MMUT ATP6AP2 NDUFA9 SPRY4 DNM1L OPA3 RTN2 LRAT RASA1 MT-ND1 ASAH1 OPA1 USP45 ALAD NDUFAF6 CHCHD10 SLC1A3 GBA2 POLG PMS2 GDF6 TGFBR3 MT-TF NDUFA13 PTEN B3GALT6 SAMD9 GTF2H5 KCNT1 FUS PRDM16 WDR11 B4GALNT1 ARSA PIK3CA IBA57 BSCL2 HS6ST1 ZFR GDF3 AP4M1 EDNRB IL17RD SAMHD1 DOCK8 SPAST ABCD1 NAGA GTF2E2 AGTPBP1 FKTN TRMT10A RPE65 AP4S1 RERE GBA GJB2 MT-TV POMGNT1 TGFBR2 NDUFAF5 AFG3L2 SLC30A10 SP110 NHLRC2 BCOR UBAC2 EXT2 TPRKB CYP7B1 GAN DDHD1 IKBKG POMT1 VPS37A FKRP SEMA4A WDR48 PDGFB VHL GJB6 CAPN1 GJB1 TOE1 SOX2 ATL1 TXNRD2 TRAF7 TRAPPC2L GMPPB HLA-DPA1 TLR4 RHOBTB2 THSD1 FAN1 CPT1C ENTPD1 TBK1 SPATA7 TACO1 TBC1D24 AIMP1 TERT RRM2B TTR VAMP1 BMPR1A CACNA1S IMPDH1 PPP1R15B CACNA1A MC2R NDUFV2 DNASE1L3 PGAP1 TACR3 AMPD2 ERGIC1 IL10 SURF1 TBCE CBS STXBP1 CYP26C1 NDUFS3 LARGE1 RPGRIP1 NNT PTPN22 DUSP6 SETX ERCC2 PDHA1 WDR73 SPG21 MLH1 PROK2 RANBP2 TP53 NEXMIF TP53RK KRAS ARNT2 GOT2 ENG NSMF NMNAT1 NDUFS2 NDUFS4 GUCY1A1 HLA-DQB1 ARL6IP1 EOGT NAXE FLRT1 OTX2 HMBS LMNB1 VCP GABRD TBCD PEX16 MARS1 SEMA3A RNASEH2A APOA1 ANGPTL6 CHD7 SMARCE1 PLP1 MTOR CACNA1D POMT2 CRX LAGE3 POLA1 FEZF1 CFHR3 SLC16A2 GABRA3 HP_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA BSCL2 TFG NDUFS1 TACO1 GPT2 AP5Z1 NDUFAF6 LIPT1 ALS2 TTR SELENOI AIFM1 GBA2 FGFR1 VAMP1 DCC KLC2 GJC2 SOX10 NDUFA12 MAG PNPLA6 NDUFS8 C19orf12 KIF1A NDUFV2 L1CAM PGAP1 HSPD1 NDUFA13 TACR3 CYP2U1 AMPD2 ECHS1 NDUFS7 ATRX WASHC5 B3GALT6 SAMD9 AP4M1 HESX1 SLC33A1 SURF1 ZFYVE27 AP4S1 DDHD2 SLC25A15 FGF8 ZFYVE26 ATP13A2 WDR11 B4GALNT1 STXBP1 RAB3GAP2 REEP2 IBA57 SPG7 PDHX AP4B1 SPG11 PET100 HS6ST1 ZFR AP4E1 ALDH18A1 NDUFAF2 ANOS1 IL17RD SLC2A1 DUSP6 SETX SPAST ABCD1 PDHA1 ARSI NT5C2 SPG21 PAX3 PROK2 KDM5C RNASEH2B MT-ATP6 UCHL1 COX15 PROKR2 NSMF REEP1 GBE1 NDUFS3 NDUFS2 NDUFS4 MAN2B1 ERLIN2 ARL6IP1 SPART UBAP1 NDUFAF5 FGF17 FLRT1 NDUFA10 SP110 KIF5A KIDINS220 CCT5 VCP FA2H MTFMT CKAP2L CYP7B1 DSTYK GAN DDHD1 LAMB1 RTN2 NDUFA2 NDUFV1 MARS1 SEMA3A VPS37A NIPA1 WDR45B WDR48 FLRT3 FOXRED1 NDUFA4 KISS1R KY PAH C12orf65 CCDC141 CHD7 CAPN1 PEX3 TOE1 PLP1 ATL1 USP8 CACNA1D SDHA NDUFA9 SPRY4 FARS2 DNM1L TECPR2 CPT1C NAGS FEZF1 ENTPD1 SLC19A3 SLC16A2 OPA1 HACE1 HP_PARAPLEGIA_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA_PARAPARESIS MICOS13 NDUFS1 NDUFAF6 LIPT1 MPLKIP CHCHD10 AIFM1 GBA2 FGFR1 POLG MAG NDUFS8 C19orf12 NDUFA13 ECHS1 CLTC COASY NDUFS7 ATRX MED13L WASHC5 B3GALT6 SAMD9 PNP GTF2H5 FUS FGF8 WDR11 B4GALNT1 RAB3GAP2 REEP2 IBA57 SPG11 GALC PET100 HS6ST1 ZFR AP4E1 ALDH18A1 NDUFAF2 ANOS1 AP4M1 KIF1A EDNRB IL17RD SAMHD1 SLC2A1 WDR45 GJA1 SPAST SDHB ABCD1 SLC33A1 NT5C2 GTF2E2 RNF113A TRMT10A KDM5C AP4S1 RNASEH2B UCHL1 GBA REEP1 GBE1 MAN2B1 GJC2 L1CAM UBAP1 NDUFAF5 AFG3L2 SLC30A10 SP110 KIF5A PAX3 TREX1 BCOR CKAP2L CYP7B1 PNPLA6 DSTYK GAN SQSTM1 DDHD1 ATP13A2 LAMB1 RTN2 CCT5 FA2H MTPAP NDUFV1 DDHD2 VPS37A WDR45B WDR48 FLRT3 FOXRED1 KISS1R KY NF1 CCDC141 CAPN1 GJB1 TOE1 ATL1 USP8 SDHA TNFRSF11A FARS2 TFG TECPR2 SDHD NAGS ZFYVE26 CPT1C ENTPD1 AP4B1 SLC19A3 C9orf72 HACE1 BSCL2 TARDBP TACO1 GPT2 AP5Z1 AIMP1 SDHAF1 TTC19 ALS2 C12orf65 TTR SELENOI VAMP1 DCC KLC2 IDUA SOX10 PPP1R15B NDUFA12 TBK1 NDUFV2 PGAP1 HSPD1 TACR3 CYP2U1 AMPD2 HESX1 SURF1 ZFYVE27 SLC25A15 TBCE ERCC3 STXBP1 SPG7 PDHX ADAR IFIH1 SPART DUSP6 SETX ERCC2 PDHA1 ARSI SPG21 PROK2 TARS1 MT-ATP6 GOT2 COX15 PROKR2 NSMF PRPS1 NDUFS3 NDUFS2 NDUFS4 ERLIN2 ARL6IP1 FGF17 FLRT1 NDUFA10 HMBS RNASEH2C KIDINS220 VCP MTFMT CCDC88C PEX16 NDUFA2 MARS1 SEMA3A NIPA1 RNASEH2A NDUFA4 PAH CHD7 PEX3 PLP1 CACNA1D ATP6AP2 NDUFA9 SPRY4 DNM1L OPA3 FEZF1 ASAH1 SLC16A2 OPA1 HP_OCULOGYRIC_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOGYRIC_CRISIS DNAJC12 TH SLC18A2 SPR PTS SLC6A3 ATP13A2 GRIN1 HP_CUTANEOUS_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_FINGER_SYNDACTYLY TP63 ROR2 LEMD3 LRP4 GLI3 SMO NOG PIEZO2 CCBE1 HOXD13 WDR19 LMBR1 FAT4 FRAS1 PAX3 MEGF8 IRF6 FGFR2 CHSY1 DCHS1 NECTIN1 ORC1 NECTIN4 KCTD1 HP_OVERLAPPING_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_FINGERS PTF1A EBP CHST11 MYH3 ATN1 EVC2 TNNI2 TNNT3 NEK9 TPM2 CNTN1 EVC BICD2 NALCN FLNA COG7 MECOM TMEM94 KIAA1109 MOGS PI4KA MYBPC1 SAMD9 MED25 CTU2 PRKDC SETBP1 HP_BIFID_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_EPIGLOTTIS WDR34 GLI3 DYNC2H1 IFT80 WDR60 FOXE1 WDR35 HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS C2CD3 SF3B4 NEK1 GLI3 PRRX1 EIF4A3 SETBP1 HP_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA COL18A1 PIK3CA CDC73 GLI3 KLLN TSC2 DLST FAM149B1 APC SDHB SDHAF2 VHL TCTN3 TSC1 PTEN IFNG PTH1R IDH1 NF1 DIS3L2 OFD1 CPLANE1 NF2 CDKN1B BRAF BMPR1A KIF7 KIAA0753 ACVR1 PCGF2 AKT1 SDHD PTCH1 FGF3 NRAS ADAMTS3 MSH3 SDHC FH SEC23B STK11 TMEM127 KRT1 MDH2 TFAP2A CCND1 SIX6 GREM1 HRAS IDH2 TMEM216 SDHA SOX2 NEK9 MAX PTCH2 CCBE1 KIF1B USF3 RET KRT10 CDK4 SLC25A11 FGFR3 DYNC2LI1 SMO SMAD4 COMP ACTB FAT4 SUFU PDE6D HP_HAMARTOMA_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_THE_EYE MDH2 RET AKT1 PIK3CA CCND1 KRT10 SDHC SLC25A11 VHL NF1 TSC2 KLLN DLST SDHB SDHAF2 SDHD TSC1 PTEN SDHA FH MAX SEC23B KIF1B TMEM127 NF2 KRT1 USF3 HP_INTRACRANIAL_CYSTIC_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_CYSTIC_LESION SNX14 CTBP1 NPHP3 TMEM231 PHGDH GLUL GRM1 TUBB SMARCC2 POMT1 B4GAT1 ARID1B IFT80 PPP1CB FKRP GPC3 SMARCD1 LARGE1 B4GALT1 CTNNB1 SMG9 CEP55 GMPPB KIF7 FGFRL1 POMGNT2 WDR35 CC2D2A BRAF FKTN NRAS SOX11 PLG LAMA1 ZSWIM6 PIEZO2 TMEM237 SEMA3E NUP62 HRAS CHD7 ABAT TRIP13 WASHC5 VSX1 TMEM216 DENND5A SLC35A2 NID1 RPGRIP1 CEP120 ASXL1 ADAR GPC4 LIPT2 POMGNT1 WDR60 SUFU SMARCB1 WDR81 C2CD3 BUB3 CEP290 PIGN KIAA0586 CRPPA KLHL7 TMEM138 B9D1 FGFR1 KRAS GLI3 EBP ATP6V0A2 EXOSC3 SLC18A3 TMEM67 SMARCA4 OFD1 RPGRIP1L IGF2 POMT2 PEX1 CSPP1 LETM1 DPF2 RAPSN CEP57 ATP6V1A FAR1 COL3A1 ZIC1 OCRL NSD2 HYLS1 DHCR7 RNF113A OPHN1 B9D2 TXN2 WDPCP POMK COL4A1 DOK7 D2HGDH GRIA3 B3GALNT2 CDC42 DPH1 PDHX RXYLT1 CPLX1 WDR34 TBC1D24 BUB1B TCTN2 CCDC22 SOX4 MKS1 FLVCR2 MYOD1 GFM1 SMARCE1 KCNQ1OT1 DAG1 MT-ATP6 ARID1A DYNC2H1 CPT2 GDF6 TUBGCP2 BUB1 CDKN1C ATP6V1E1 AHDC1 USP9X ARID2 MUSK KCNQ1 PSAT1 PDHA1 TMEM107 FTO DOCK6 EVC MAB21L1 EVC2 FGFR2 PMM2 POLR3A WDR73 AP1S2 ARMC9 NUP88 HP_ABSENT_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EPIPHYSES IFT140 SMARCAL1 LONP1 ADAMTSL2 EXTL3 PLOD3 CDC6 COL11A2 CHST3 COL2A1 RNU4ATAC KIF22 MATN3 TRAPPC2 HP_CONE_SHAPED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_SHAPED_EPIPHYSIS SHOX NPHP4 DYNC2LI1 DYNC2H1 SDCCAG8 TRPS1 PRKAR1A IHH PCNT CEP152 NEK1 IFT172 MAP3K7 IQCB1 PLK4 PDE4D GDF5 TRIP11 EIF2AK3 GPX4 NPHP3 FGFR3 RBBP8 SRCAP KIF15 FGF9 WDR34 ATRIP AIFM1 KIAA0586 INVS ATR COG4 EXT1 RMRP TRAF3IP1 CSPP1 BGN NPR2 TRAIP NSMCE2 RUNX2 IFT52 WDR60 COL2A1 BMPR1B WDR19 NOG CENPJ OFD1 CEP164 FBN1 SMAD4 IFT140 FLNA EVC EVC2 NPHP1 IFT80 RSPRY1 PDE3A CEP290 POC1A CENPE DYM CEP120 TTC21B HP_ENLARGED_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_EPIPHYSES CCN6 CYP2R1 NKX3-2 VDR CKAP2L PIK3R1 SLC34A3 CYP27B1 COL11A2 GDF5 COL10A1 CLCN5 ATRX HP_IRREGULAR_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_EPIPHYSES COL9A3 RNU4ATAC CHST3 NANS COMP KIF22 TRAPPC2 SIK3 UFSP2 COL9A1 ACAN ADAMTSL2 MATN3 DYM COL2A1 COL9A2 CDC6 COL11A1 TRIP11 RPL13 SLC26A2 HP_IVORY_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IVORY_EPIPHYSES PCNT ERCC6 TRPS1 ATR EIF2AK3 ERCC8 HP_PSEUDOEPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES FGFRL1 CTBP1 RAB23 CPLX1 NSD2 RPS6KA3 GDF5 KCNH1 NKX3-2 PCNT NF2 BMPR1B MAP3K7 LETM1 HOXA13 SALL1 HP_SMALL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EPIPHYSES COL9A3 CANT1 RSPRY1 COL9A1 CHST3 MATN3 RMRP COL9A2 COL11A1 AIFM1 SLC10A7 NANS TRIP11 COMP EIF2AK3 KIF22 MMP13 HP_SKIN_TAGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_TAGS EYA1 CCDC22 EFTUD2 CTBP1 GNAI3 DACT1 PLCB4 SEMA5A EDNRA HNRNPU STAG2 TCOF1 GPC4 ARID1B VPS13B KMT2D SALL1 FGF3 SIX5 FLNB ALX3 PTEN NSD2 UBE3B ANKRD11 SIX1 PTCH2 IRX5 MED12 MED13L RIPK4 PIGS FGFRL1 SF3B4 CHN1 NAA10 MAFB NSMCE2 PIK3CA TMEM260 FGFR2 B3GLCT AKT1 EXT2 PTCH1 TXNL4A ALX1 BCOR PUF60 KIF7 SALL4 LRP5 SEMA3E CTNND2 FLCN CPLX1 KDM6A CHD7 PRMT7 POLR1C EDN1 POLR1D ANTXR1 LETM1 GPC3 SUFU FGFR1 WASHC5 HP_PALMAR_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_PITS PTCH1 PTCH2 SUFU ATP2A2 CIB1 HP_ANGIOFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOFIBROMAS KRAS TSC1 AKT1 MLH1 PIK3CA SDHC KRT17 TSC2 KLLN MEN1 MSH2 IFNG PLCD1 NRAS SDHB MSH6 HRAS CDKN1B CDKN1A SEC23B CDKN2B CDKN2C USF3 PTEN SDHD HP_FIBROADENOMA_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROADENOMA_OF_THE_BREAST APC PRKAR1A PTEN PRLR CASP10 FAS PRKCD PIK3CA RASGRP1 AKT1 FASLG HP_MALAR_PROMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_PROMINENCE NBN NSMCE2 COL5A2 COL5A1 COL1A1 HBB XRCC4 CTDP1 HDAC8 LAS1L HP_CUTANEOUS_SYNDACTYLY_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY_OF_TOES GJA1 SMO NOG MCTP2 SLC39A8 SMARCAD1 NECTIN1 FGF9 NECTIN4 MYH8 HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM CHEK2 RB1 SHOX PORCN TP53 PHF21A IDH1 KRAS MTAP COL2A1 FGFR1 APC EXT2 EXT1 PTPN11 PTEN IDH2 PMS2 IFNG PTH1R TGFBR2 BMPR1A RECQL4 WRN EPCAM FGFR3 TREX1 ACAN PRKAR1A GNAS RNASEH2C RPS20 SQSTM1 GLI3 TRPS1 CHRNG TSC1 RNASEH2A SEMA4A TCOF1 MLH3 MSH2 MDM2 ADAR RNASEH2B ATP7A AKT1 NR4A3 IFIH1 TAF15 CDKN2A TSC2 EXOC6B SAMHD1 MSH6 ALX4 COL11A2 PMS1 LMX1B POLR1C POLR1D LMNA RPS19 PIK3CA MSX2 FAN1 B3GALT6 RAD21 MLH1 HP_APLASTIC_HYPOPLASTIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_TOENAIL SLC35D1 SHANK3 ATP6V1B2 LIMK1 RFC2 PPP1CB ARID1A SMARCC2 GPC4 ARHGAP31 INPPL1 MSX1 LIG4 NOP10 AFF4 GTF2I PPP2R5D LRP4 DPF2 SMARCD1 HRAS COL7A1 ELN CLIP2 CRKL NPM1 PORCN DYNC2LI1 WRAP53 EZH2 SHOC2 DPH1 NOTCH1 SOX11 BCR GLI1 EVC HOXA13 TELO2 NSUN2 TBX3 FGFR1 KDM1A EOGT RIPK4 TERC NSD1 NECTIN4 SHOX KCNH1 TERT SOX4 DOCK6 GJB2 COL11A1 DLL4 SMARCE1 PARN SMARCB1 TBL2 SUZ12 TCTN3 CPT2 CKAP2L APC MAPK1 NOG RBPJ NHP2 ARID2 BAZ1B RTEL1 EVC2 GJB6 SMARCA4 MMP1 TBX4 WNT7A USB1 TINF2 CTC1 LMX1B GTF2IRD1 DKC1 EED GDF5 ARID1B LBR HP_ANTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_DYSGENESIS SOX3 DMXL2 LHX3 ARNT2 HESX1 GLI2 PROP1 OTX2 PROKR2 SIX6 ZSWIM6 SOX2 GATA6 LHX4 SIX3 NONO FGFR1 FOXA2 RBM28 TBX3 POU1F1 HP_ANTERIOR_PITUITARY_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_AGENESIS FOXA2 GLI2 LHX4 HESX1 POU1F1 SIX3 PROP1 OTX2 GATA6 HP_SCHIZENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZENCEPHALY EMX2 SHH COL4A1 EPG5 TUBB2B WDR62 WNT1 SIX3 HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN VCP DMP1 ENPP1 SLC34A1 CYP2R1 CCDC115 CYP27B1 HP_ABNORMALITY_OF_THE_NASAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_CAVITY PTCH1 NODAL SHH DLL1 FOXH1 GLI2 GLMN DISP1 CDON SUFU TDGF1 SIX3 TGIF1 FGFR1 GAS1 ZIC2 FGF8 HP_ABNORMAL_ELASTICITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELASTICITY_OF_SKIN PAX2 FGFR3 PRDM5 LIMK1 MTAP INSR FBN1 CHST14 FGF20 MAPRE2 ABCC6 TGFB2 ELN RPS6KA3 COL1A2 PTEN TWIST2 PYCR1 C1R B3GALT6 ATP6V1B2 GGCX CYP4F22 MRPS22 KCNH1 EDA ALDH18A1 PLOD1 LMNA TERT FBLN5 FKBP14 SMARCA2 AEBP1 ATP7A TBX15 SRD5A3 EXOC6B NDUFB11 ADAMTS2 FLNA XYLT2 SLC26A2 PITX2 SLC7A7 FIG4 DLG4 HRAS PDGFRB MRPS16 MGP FGD1 IFT43 ZNF469 YY1 SLC2A10 MAN2B1 KRAS NIPAL4 MLXIPL WRN BRAF MEGF8 SKI PDE8B AKT3 SLC25A24 KIAA0586 SLC39A13 ABCA12 PRKAR1A DSE EXT1 PTDSS1 NAA10 ATP6V0A2 MAP2K1 PHGDH BCL11B BAZ1B NTRK1 FGFR2 COL5A2 COL3A1 ALOXE3 TGM1 TP53 TGFBR1 COL1A1 ADAMTSL2 FGF10 LTBP4 PEX1 GNAS GTF2IRD1 TRIP4 EFEMP2 CUL4B CHST3 GSN RFC2 ATP6V1A SLC6A8 HPGD RIT1 RAF1 GTF2I KIF22 RTEL1 SPINT2 MAP2K2 KCNN3 PTPN11 CSTA CLIP2 COL12A1 GORAB ANTXR1 GPX4 XYLT1 SPARC C1S OSMR NPR2 EZH2 DKC1 ENPP1 RIN2 USP8 TGFBR2 CEP55 COL5A1 FOXC1 TBL1XR1 ACD CD96 NSD1 SH3BP2 WDR35 B3GAT3 ALOX12B SMAD3 PDE11A SULT2B1 NBAS WDR19 TBL2 POLD1 SMARCAD1 SUZ12 AIP PIK3R1 VAC14 PRKACA TRPS1 ATP6V1E1 CSPP1 ABL1 TNXB TGM5 TUBB PARN PAH PSAT1 MAN1B1 ZMPSTE24 SON LIPN EED TINF2 B4GALT7 PUF60 SDR9C7 HP_DERMAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_TRANSLUCENCY TGFBR1 ZMPSTE24 SMAD3 PYCR1 CHD1 SLC25A24 PPP1CB POLR3A COL3A1 TGFBR2 LMNA HP_FLAT_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_NASAL_ALAE DDB2 PTCH1 ERCC2 ERCC4 XPC ERCC5 XPA ERCC3 HP_ABNORMAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MENINGEAL_MORPHOLOGY CCL2 RIPPLY2 SHANK3 GLI3 TMEM231 BICC1 RTTN NOTCH3 SC5D TTR ADAT3 WNT7A GANAB KRAS INPP5E PPP2R5D SMAD3 PAX3 MFAP5 HES7 TGFB2 LFNG OFD1 VANGL1 B3GALNT2 SACS LOX ELN COMT PORCN DACT1 PTCH1 JMJD1C IGF2 TGFB3 LARGE1 PKD2 FLNA NRAS HIRA RREB1 PUS3 FBN1 FRAS1 FOXC2 VANGL2 TGFBR1 GRIP1 MESP2 DDR2 PKD1 TBX1 MSX2 DLL3 ALX4 FKTN GPSM2 XPNPEP3 BMPER ACTA2 SON SMAD4 NEK1 PRKG1 POMGNT1 DNAJC19 FREM2 H19 SNRPB ARVCF COL11A1 PTCH2 TGFBR2 KIAA0586 POMT1 MYLK FGFR1 KCNQ1OT1 TBXT CSPP1 CEP290 FKRP SEC24C NDE1 FUZ ZSWIM6 MAT2A POMT2 GMPPB ABCC6 GP1BB FGFR2 FOXE3 UFD1 TMEM216 SUFU MYH11 PUF60 ARID2 HP_ABNORMAL_DURA_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DURA_MATER_MORPHOLOGY COL11A1 PTCH1 PTCH2 NDE1 SUFU ABCC6 DDR2 HP_EPIPHYSEAL_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_STIPPLING PEX14 PEX26 PEX12 PEX3 PEX11B PEX2 MGP PEX1 PEX16 PEX10 PEX5 BMPR1B ARSL NEU1 NSDHL THRB FLNB PRKAR1A PEX6 GGCX GDF5 PEX13 EBP GUSB SNRPB DHCR7 DDR2 PDE4D AGPS PEX19 PEX7 LBR HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION COL9A3 PEX14 KCNH1 CYP19A1 RNU4ATAC PEX3 PEX11B PEX2 MGP PEX1 PEX10 ARSL ESR1 PEX16 COMP KIF22 CLCN5 FLNB DDRGK1 GDF5 PEX13 GUSB DHCR7 PRKAR1A PDE4D KIAA0586 COL2A1 GPX4 B3GALT6 PEX6 PEX12 PEX7 PTH1R CSPP1 PEX26 CYP2R1 VDR PEX5 BMPR1B NEU1 NSDHL THRB GGCX EBP SNRPB DDR2 SLC34A3 CYP27B1 AGPS PEX19 DYM LBR HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY SQSTM1 TBCE GJA1 MTAP LBR HP_ABNORMAL_HAND_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_BONE_OSSIFICATION CANT1 BGN SLC35D1 PIGV FLNB TRPV4 EXTL3 RMRP XYLT1 TRIP11 FLNA BMPR1B GPC4 PTCH1 HOXA13 TONSL PTH1R LONP1 GDF5 EBP B3GALT6 DDR2 MBTPS1 IHH PTCH2 CHST3 KIF22 SETD2 SLC10A7 GPC3 SUFU MATN3 UFSP2 HP_ABNORMALITY_OF_THE_DIENCEPHALON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIENCEPHALON BAP1 GLI3 LIMK1 RFC2 POMT2 PROKR2 NSMF TERT SIX6 SMO FAM149B1 RANBP2 NDUFB8 TCTN3 FGFR1 GTF2I DCC TBL2 FGF17 TMEM216 SOX10 TRH SOX2 OFD1 ELN POMGNT1 ANOS1 SETD5 CTNNB1 POMT1 TACR3 LHX3 POLG SURF1 GMPPB CLIP2 COASY LEPR CPLANE1 HESX1 POMK TUBB3 FGF8 WDR11 NDUFAF3 SEMA3A GTPBP3 KIF7 FLRT3 BAZ1B PDGFB KIAA0753 PIK3CA KISS1R BRAF NDE1 NDP CCDC141 CHD7 SCP2 SMARCE1 C12orf65 HS6ST1 TRAF7 JAM2 SMARCB1 PTCH1 IL17RD SUFU SPRY4 DUSP6 AKT1 GTF2IRD1 SLC2A1 TWNK NF2 FEZF1 PDE6D SCO2 NDUFS2 FKRP GPKOW PROK2 HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY NDUFAF3 GTPBP3 BAP1 POMT2 PDGFB PIK3CA TERT SMO RANBP2 NDE1 NDUFB8 SCP2 SMARCE1 C12orf65 TRAF7 JAM2 SMARCB1 PTCH1 SUFU POMGNT1 SETD5 POMT1 POLG SURF1 AKT1 GMPPB COASY SLC2A1 TWNK NF2 SCO2 NDUFS2 POMK FKRP TUBB3 HP_BILATERAL_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_COXA_VALGA COG8 TGFB3 ZMPSTE24 CCDC47 MAN2B1 LMX1B PDE4D STXBP1 LMNA HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE LIFR RSPRY1 SLC35D1 SHANK3 NSDHL SLC6A8 GPC6 LIMK1 ACSL4 MGP KIF7 AMMECR1 TCOF1 INPPL1 NF1 NTRK1 SETBP1 SLC26A2 ELN FLNB CTSK ARID1B SIX3 HERC1 SETD2 B3GALT6 NGF FGFR3 BMP2 HSPG2 CHD7 PAX3 YY1 GSC BANF1 RUNX2 SF3B4 COL11A2 FGFR1 BGN FLNA RHOA CTDP1 COL2A1 SCARF2 RREB1 LAS1L COL11A1 TMEM237 UBE2A SEMA3E KIF1A FGFR2 DCHS1 SHH POLR1D NECTIN1 TFAP2A TONSL KCNH1 BLM HDAC8 PRKAR1A LRP2 ESCO2 AGL MECP2 MAN2B1 KRAS MLXIPL POMGNT1 TAT DVL1 FAM20C DHODH ROR2 BRAF PQBP1 PEX12 KCNJ2 POR NFIX ARVCF TMEM165 PIGA ATRX AIFM1 COL9A2 APC MAPK1 PRMT7 HBA1 PEX7 LRPPRC SLC2A10 RAB23 COG4 ATP6V0A2 MAP2K1 BAZ1B CCBE1 NDP CCDC8 OFD1 PTH1R POLR1C RAI1 TGFBR1 WNT5A LARP7 TBX4 COL1A1 EBP MAF PLOD3 GP1BB LTBP4 RDH11 PEX1 NONO ERF USB1 GTF2IRD1 DVL3 UFD1 SOST PYCR1 LBR LOXL3 NOTCH2 SH2B1 EFTUD2 SLC16A2 MBD5 RFC2 ATP6V1A COL9A3 CDH11 NOTCH3 RAB3GAP1 GATA1 GTF2I TWIST2 KIF22 ZNHIT3 FOXC1 LRP4 PIGT XRCC4 MAP2K2 KCNE5 PDE4D CUL7 CLIP2 RNU4ATAC CRKL POGZ GORAB COMT ZBTB20 SEC23A COL9A1 TP63 TWIST1 JMJD1C GRIA3 EHMT1 PIGV PCGF2 TBX22 DNMT3B RLIM HIRA ADAMTSL4 BCR TGFBR2 COL5A1 STAG2 GLI2 DDR2 TBX1 TBL1XR1 POLE HBB OBSL1 FZD2 SMAD3 POU1F1 MED12 SERPINH1 VPS13B TBL2 SP7 ACAN PEPD FBN1 RBM8A MYH3 RAB3GAP2 TGDS POLR3A PYCR2 PIK3R1 MAN1B1 CANT1 RPS26 COL5A2 ATP6V1E1 CILK1 TFAP2B LMNA NBN SEC24C BMP4 FAT4 SMAD4 BUB1B SNRPB NSMCE2 SATB2 HBA2 HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE NOTCH2 BLM SLC16A2 MAP2K1 LIMK1 RFC2 TCOF1 BAZ1B RUNX2 FGFR2 SF3B4 OFD1 KRAS GTF2I TWIST2 VPS13B TBL2 COL11A1 BRAF NECTIN1 SEMA3E PEPD ELN MAP2K2 CHD7 POLR1C POLR1D GTF2IRD1 CLIP2 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 TWIST1 SMARCAL1 CTBP1 PHF6 ELP1 FRG1 FKRP KCNAB2 FGFR3 RAB3GAP1 DNAH1 CLP1 UPF3B SIX3 MOGS COL2A1 NDUFAF1 EGR2 TMEM138 STAT3 NSD1 PTCH1 NEB BPTF SEC23A B9D1 PCYT1A GAN TTPA NDUFAF6 DLG4 ATP6AP2 ROR2 COQ2 BSCL2 PIEZO2 BCOR TCTN2 MRAS SLX4 GLB1 SELENON CHRNG ALDH18A1 KMT2D TREX1 HGSNAT NFIX DDX3X NALCN ARL3 ATRX H1-4 PEX7 BRF1 RAB18 PHGDH WDR45B MYH3 SEC24D TBC1D20 MAPT SOX9 FGF8 EBP SRD5A3 COLQ MAGEL2 UFD1 LETM1 TDGF1 KIAA0586 MEGF8 SNORD115-1 HNRNPA2B1 CTC1 HACE1 SH2B1 FOXJ1 SGCA FKBP10 PPP2R5D DNMT3A EP300 LFNG ALX3 DNAL1 ANKRD11 EXTL3 DEAF1 SPG7 SIN3A CUL7 FKTN KLC2 DOK7 FGFR2 NPR2 ERCC3 ATP6V0A2 USP8 ERLIN2 ADAR BCR CEP41 MRPS34 RBM28 IFIH1 FBN1 CREBBP OTUD6B DCC PMP22 PRKAR1A SMCHD1 SLC25A1 ATP6V1B2 TPM3 MYH2 EZH2 CAPN3 AKT1 VPS53 RRM2B TMCO1 TERT NSD2 TRAPPC12 TNNT3 MAD2L2 ZMPSTE24 UFSP2 ERCC4 PPP2R1A SPART HINT1 VPS13B NODAL POMT1 RAF1 SMARCE1 SLC18A3 CHRND MEOX1 NAA10 TGFBR2 XYLT2 RYR1 USP7 BDNF HUWE1 PTEN ERMARD PIGT KCNQ1OT1 RPL10 COL5A2 ABL1 RIT1 TRAIP TNNI2 CDC45 XYLT1 TCF4 ACTA1 GFPT1 FAT4 GJB1 NUS1 DLL1 FLVCR1 RECQL4 PALB2 SDHD CCN6 GMPPB ERLIN1 NSDHL PRDM5 SH3TC2 MYO18B MCIDAS GBA2 EIF2AK3 A2ML1 MAPK8IP3 SMARCD1 COL6A2 HES7 TGFB3 POLA1 RPS6KA3 ALMS1 GUSB PLOD2 TPM2 SHOX AMER1 SPATA5 TUBB3 PRDM16 FZD2 PLOD1 B4GALNT1 DYM MED12 TBCK CANT1 COL11A2 OFD1 MBTPS2 RREB1 LBR TUBGCP4 CFAP298 VMA21 VAMP1 HGD TRMT10A POMK TONSL NXN TBX5 GALNS LOX TMTC3 MAN2B1 ADGRG6 SMARCB1 CLCF1 PPP2R3C CCDC39 ARMC4 COL12A1 VPS37A TPI1 TMEM165 NEU1 DISP1 DDHD1 GNPAT AEBP1 LIFR MYH7 FLNA COL1A2 FLAD1 PIK3CA CCBE1 MKS1 ATP7A ZDHHC9 TBX4 GBA GP1BB NEDD4L CHRNA1 COLEC11 P4HB MVK RPL13 ERCC1 RAD51 SLC26A2 SLC16A2 ATN1 PCNT LIG4 FLNB EXT2 MFAP5 PIK3R2 MAP2K2 CRKL EXOC6B FMR1 SPARC COLEC10 TBCE CBS PIGO HRAS KY CENPJ PIGL ACTB RAD51C TRPS1 GNPTAB TNFRSF11B TUBB4A CDC42 TMEM67 TBX1 TBL1XR1 CD96 ITGA7 LMNA MYL2 LZTR1 CCDC22 MECP2 PRPS1 SACS WNT5A COL6A3 MGAT2 SGCG CNTNAP2 PARN ASXL2 FLRT1 DHX37 PIGW TTC25 VCP FOXRED1 TRAPPC4 RNASEH2A PDE11A UPB1 TGFBR1 BMPR1B AHI1 RRAS IARS2 MAT2A CUL4B SYNJ1 RAI1 COL1A1 HSPG2 RPL11 IHH GDAP1 KDM6A B4GALT7 KLHL41 CLIC2 EFL1 ACAN SNX14 PPM1D SMS RSPH1 PIGY PDGFRB TMEM231 LIMK1 MARS2 MMP13 FGFR1 ELN CTSK DPM2 ATR SYNE2 FGFRL1 FUT8 BICD2 CHST3 DNAH9 RUNX2 CDKL5 RSPH4A AIFM1 KANSL1 ERCC8 SLC5A7 HMGA2 CCDC65 MORC2 HK1 SYNE1 SCN4A TBCD COL13A1 MYMK ZC4H2 MYF5 DNAJC6 SKI MIR140 RPGRIP1L C1R RERE TRPV4 CRPPA ROBO3 GZF1 NDN MAPK1 LAMA2 APTX HNRNPH2 DNAAF6 FOS LEMD3 COL27A1 BMP1 TMEM216 FARS2 DPP6 ASXL3 HNRNPK ADAMTS2 SOS2 DKK1 PIGV NUP88 TMEM237 MYO9A ACP5 INPP5K ADAMTS10 GTPBP2 CC2D2A SMAD3 TMEM43 IRF6 FUCA1 SLC25A46 GNAS ENPP1 ACVR1 MTM1 ERCC6 MGME1 BRCA2 NELFA SYT1 NECTIN1 MFN2 SLC39A14 NSUN2 TRRAP DDR2 LRP4 BRCA1 EMC1 PYCR1 DNAI1 ZNF469 IDUA TOR1A TARS1 SON SLC25A24 FKBP14 TUBGCP6 ATP6V1E1 SP7 PIK3C2A CAV1 RNASEH2C RAB3GAP2 PIEZO1 EFNB1 LHX3 TTN AP1S2 LRRC6 ABCC6 DNAAF5 USP9X SOX5 MPZ PYCR2 CPLANE1 ARX TMEM38B BRAF RSPRY1 HNRNPA1 NOP10 SURF1 GDF5 RBM8A LSS SPRTN GDF6 ALG11 CSF1R DLX5 SAMD9 GNE LMOD3 CASK PDCD10 MYPN CSPP1 AUTS2 CTDP1 ALDH3A2 SEMA3E FANCF TGFB2 CHD7 MESP2 GPR101 PHF8 ZIC2 SFRP4 RAPSN VDR SPEF2 FANCG FUZ TBX6 KIAA0556 AIP RUSC2 FANCI APC2 CYP7B1 NRAS PLEC MAP3K20 BIN1 GAD1 PTDSS1 NOTCH2NLC RTEL1 NIN CBL HACD1 ATL1 POMT2 HERC2 LARP7 TRIP4 ZNF423 NDUFAF4 DPF2 CENPE VPS33A NOTCH2 AIMP1 DYSF KLLN INPP5E GAS2L2 EMD GJC2 OCRL PPP1R15B RASA2 ATAD1 TK2 FBN2 ANTXR1 NRXN1 IGBP1 WNK1 CHRNE DNAH5 DACT1 PQBP1 FOXG1 CEP290 SRP54 GLI2 CRLF1 PACS1 PTPN11 IDH1 FBXL4 TRIO DNAAF2 ARF1 TGDS SGMS2 FHL1 USF3 BGN PRX NHP2 FXN HSPB8 FBLN5 PYROXD1 HPGD PSAT1 KRIT1 MAP1B DKC1 EED AGRN TRIP11 PGM3 ARID2 PAPSS2 LMNB2 NEK9 NKX6-2 ARID1B COMP GPC3 RRAS2 BRIP1 SLC1A2 MED25 SALL4 MTRR BANF1 PPIB EXT1 NCAPG2 GAS8 AK9 MEGF10 RNF113A SETBP1 SLC35A2 TFAP2A CHST14 KCNH1 COL6A1 PTCH2 NDUFA12 INPPL1 KIF5A SUFU AGA YWHAG FLCN FANCA DSTYK DMD TRAPPC11 DSE ARSB RAB23 TCTN1 CHD3 TAF1 XRCC2 CCDC8 WNT3A MTMR2 SSR4 DNAAF4 CRTAP ARL13B AGPAT2 FAM126A ATAD3A JPH1 TINF2 PMM2 CEP104 GTF2IRD1 COG8 FANCB WT1 FANCM GPC4 RNF13 DNMT3B ARMC9 POMGNT1 SNRPN CLIP2 COMT POR PEX5 SIL1 RSPH9 GLIS3 PLAA MCM3AP PCGF2 HIRA RNF125 SRY CPLX1 RAC1 TMEM94 SEC23B CHRM3 SOS1 DNAJB13 RMRP FGD1 PLK4 SH3PXD2B RIN2 TGFB1 SBF2 PWRN1 CCNO PIBF1 DNA2 CAVIN1 HMGB3 LRRC56 ITGB6 POLR3A GABBR2 DHCR7 KMT2E MASP1 CEP152 NGLY1 KRAS SLCO2A1 CFAP221 B3GALT6 B3GLCT STK36 PUF60 MSTO1 PUS1 WNT1 DDRGK1 NME8 SBF1 ARFGEF2 LAGE3 NACC1 ALG9 NKAP ACTA2 SLC12A6 SEMA5A TCTN3 COG1 P3H1 SMAD4 UBE3A MAP3K7 IKBKG PRKG1 MUSK H19 KCNJ2 FANCD2 NF1 POLE DVL3 GCH1 BAZ1B UBA1 CAPN1 TLK2 L1CAM RBBP8 UBTF NONO ACTG1 ZIC1 MAP2K1 CCDC151 PAX3 MATN3 ATRIP TTC21B ZBTB20 ECEL1 RETREG1 CHRNB1 SF3B4 NDUFS3 SLC35A3 PRKD1 SPG11 CTNND2 MBTPS1 ERCC2 TBC1D24 DLL3 POP1 FLII CCDC40 SNORD116-1 MYOD1 CHAT ARL6IP6 SERPINH1 IL6ST GABRD RET RSPH3 SMARCA4 IGHMBP2 HYDIN KCNA1 NOTCH3 C12orf65 MPL SNRPB ALS2 HYLS1 SETD2 BAG3 PHACTR1 DNAH11 GLE1 CCDC47 SPAG1 MPLKIP TRAPPC2 FANCL PLEKHG5 DDX59 FOXH1 PWAR1 PORCN WRAP53 DNAAF1 SOX11 TELO2 DAG1 DCHS1 SMARCA2 CACNA1G MMP2 FLI1 GAS1 DES UNC80 COQ4 ARVCF PRUNE1 TGIF1 IQSEC2 SDHC CCM2 PODXL CCDC103 TBX2 RNASEH2B UBE2T HERC1 PPARG SPTBN4 STAG1 ALG14 MYH11 RBM10 SLC52A2 RFC2 PSMD12 SNAP25 MEIS2 DPAGT1 DVL1 GORAB PMPCA JMJD1C TCF20 VANGL1 GRIA3 LRP5 CEP120 TTI2 SETD5 IDS SBDS KIF22 ALG2 CDH11 SOX4 HSPD1 GNPTG B3GAT3 DNM2 ARID1A CSNK2A1 LTBP4 KCNJ6 SLC52A3 CFL2 MYLK PIGS CLCN4 AHDC1 GNAQ SEC24C DYNC2H1 FN1 GDF3 SYT2 LAMB2 DNAAF3 SLC25A21 PGAP2 SMARCC2 MTMR14 ABCB7 RIPPLY2 FANCE PNKP STAG2 RFWD3 SHROOM4 SCN9A YARS2 WIPI2 SLC10A7 CDON IDH2 GTF2H5 RPGR CHST11 SCARB2 NPHP1 HSD17B4 INTS1 SPEG SLC6A1 LONP1 SAMHD1 NPAP1 GRIN1 HTT P4HTM CFAP300 GTF2E2 AIMP2 FARSB ZMYND10 C1S MLXIPL RNASEH1 NUP107 DNAI2 LMX1B APC NEK10 SLC2A10 OBSL1 KMT2C GARS1 NDP GOSR2 COL3A1 PLOD3 FAM111B MAF NEFL ACADS RBCK1 FGD4 GTF2I LAS1L DEGS1 KBTBD13 SHH NPM1 STAC3 IGF2 DNAJC21 ASAH1 HLA-B DUX4 COL5A1 PAX6 TTC12 MKRN3 ANO5 TERC WASHC5 HNRNPU FANCC PDE4D KIF1A TBL2 POLD1 SDHB AHSG SUZ12 FA2H DRC1 SETX CCDC114 USB1 PGAP3 FOXE3 WDR81 LARGE1 HP_ABNORMAL_FOOT_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOOT_BONE_OSSIFICATION FLNA SLC35D1 EBP CANT1 TRIP11 INPPL1 HOXA13 EIF2AK3 COL2A1 MATN3 LBR PTH1R HP_ENURESIS_NOCTURNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS_NOCTURNA FA2H AQP2 AVPR2 SLC5A2 BNC2 RNF168 HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE VCP ESR1 DMP1 ENPP1 GPR35 SLC34A1 MST1 TCF4 CYP2R1 CCDC115 CYP27B1 HP_PULVERULENT_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULVERULENT_CATARACT VIM LIM2 HSF4 CRYBB1 MAF FTL GJA8 BEST1 CRYBB2 HP_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLAR_CATARACT BBS2 VIM EPHA2 PITX3 HSF4 ZBTB20 CRYAB ITM2B APC COL4A3 PEX5 HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL VPS33A IL7R DOCK8 SFTPA2 SPIB CARD9 CD3D MYD88 IL2RB STAT3 STING1 PSMB9 IL2RG GPC4 MVK CD247 FOXP3 IL12RB1 KRT8 FASLG WAS GPC3 ALB CASP10 PIK3CD POMP CD3E KRT1 EXTL3 FAS CD40 IL6ST NLRP1 SFTPC IFNGR1 PSMB8 RASGRP1 SETX MMEL1 CCND1 PSMB4 GPR35 MST1 SPINK5 HLA-DRB1 CDSN IRF5 XIAP POU2AF1 UNG SLC7A7 PLA2G7 SCARB2 MUC5B TERT TYK2 ELANE ADA DNMT3B IL4R TNPO3 CD40LG PSTPIP1 SH2D1A KLHDC8B KRT9 COL1A1 MS4A2 LIG4 IFIH1 GBA TNFSF15 PGM3 VPS45 PRKCD TCF4 KRT18 IL12A NRAS KRAS HP_ABNORMALITY_OF_HAIR_TEXTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_TEXTURE SMARCAL1 CCDC47 EDARADD MPLKIP KRT17 SGSH AFF4 KRT81 A2ML1 HEPHL1 SUOX RRAS2 WDR35 PADI3 PIGL KRAS PYCR1 LPAR6 PORCN PKP1 GTF2H5 CBL ERCC3 TTC37 EDA GJA1 TRNT1 NRAS DSG4 GNS KANK2 KANSL1 ATP7A ERCC8 SEC23A RAF1 LIPH GJB6 CDH3 PHGDH KRT74 HPD EPS8L3 SLC7A7 GAN NECTIN1 HRAS GTF2E2 RNF113A TRMT10A MTOR TP63 VPS33A GATAD2B IFT43 MRAS GJB2 NAGLU IKBKG CDKL5 LZTR1 ASL BRAF MECP2 HGSNAT GABBR2 SLC25A24 TCIRG1 KRT25 SPINK5 BRF1 TNFSF11 NAA10 ATP6V0A2 MAP2K1 SNX10 KRT71 KRT86 OFD1 NTNG1 CLCN7 COL3A1 DCAF17 OCRL ERCC2 PLOD3 SOS2 DSP TCHH KRT85 NOTCH2 CERT1 RPL21 RIPK4 ATP6V1A TARS1 CSTB RIT1 PCNT ERCC6 MSX1 LIG4 TWIST2 PQBP1 ZMPSTE24 PPP1R15B SUMF1 MAP2K2 RASA2 STXBP1 SIN3A GNPTAB KRT83 ST14 SKIV2L CDK13 EZH2 RPS23 ITGA3 TINF2 WNT10A RLIM BCS1L NSUN2 JUP EBP EDAR DSC2 KAT6B SOS1 NSD1 NECTIN4 TMCO1 PTPN11 RMRP TGM3 TRPS1 NBAS ALX4 AHCY ANAPC1 SUZ12 EFNB1 RECQL4 MED12 SATB2 KCTD1 CDSN ATP6V1E1 CBS USP9X NOTCH3 RRAS SMAD4 FLNA IFT122 HR SON EED RPS6KA3 HP_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_PATTERN TWIST1 CTBP1 PPP1CB ARID1A MYO18B FRMD4A STAG2 TCOF1 PEX19 GDF6 A2ML1 ARX CCNK COG7 LIG4 RRAS2 PADI3 SRCAP BRCA1 DPM2 PWAR1 SLCO2A1 SETD2 MED13L PORCN EMC1 NIPBL GNE SMC1A TSC1 NSD1 FGFR3 FGFRL1 SHOC2 DSG4 HSPG2 KRT81 SMARCA2 TBX15 GDF3 FRAS1 UBE2A ADNP PEX6 NPAP1 WASHC5 POLR1D SPRED1 TMCO1 PHF8 SPECC1L TCF12 SMC3 ACTB CDH1 TRMT10A TFAP2A KDM5C KCNH1 FGD1 DLX4 SLC12A6 HDAC8 YY1 ZC4H2 ASXL1 NRXN1 MRAS MAN2B1 IKBKG INSR KRAS WRN CHRNG FREM2 LETM1 BRAF FREM1 RAD21 IGF1 NF1 AIFM1 RERE ABCC9 NRAS KLHL7 AEBP1 NDN LRP2 LRPPRC DMPK MAP2K1 CHN1 TWIST2 UBR1 DOCK7 CBL SIN3A TBX2 SALL4 STAMBP FGFR2 MEOX1 HERC2 TP63 MAGEL2 THOC6 CNBP TECPR2 ACTG1 SOS2 XYLT2 SNORD115-1 FLNA KRT85 MYH3 NOTCH2 RBM10 CHST3 SMARCD1 NOTCH3 RAB3GAP1 COL17A1 ZIC1 MID1 LMX1B XRCC4 FOXP1 EP300 RAB3GAP2 PPP1R15B ALX3 NSD2 MAP2K2 RASA2 APC ANKRD11 SNRPN KRT83 IRX5 COG5 KRT86 KREMEN1 SH2B1 NFIX HR SLC9A7 MAFB TAF6 TBC1D20 NANS STXBP1 NELFA SYT1 SLC25A24 SRY CPLX1 NSUN2 CREBBP KCNJ8 GRIP1 MKRN3 POLR1C KDM1A UGP2 LMNA IFIH1 ATP6V1B2 TBL1XR1 TBC1D24 SOS1 NECTIN4 SETD5 PTPN11 LZTR1 MAP3K7 PACS1 RAB18 B3GAT3 SNORD116-1 MED12 SMARCE1 CNTNAP2 PPP2R1A VPS13B ERMARD NR3C1 RAF1 PEPD PIK3C2A EFNB1 PWRN1 KMT2A HUWE1 RIT1 ITGB4 INTU SLC35C1 CWC27 CCDC22 RRAS HPGD ALX1 MAN1B1 CUL4B NBN TGM3 DOCK6 ECM1 MAB21L1 WNT4 ANTXR1 ALDOA MEIS2 CD96 PEX1 HP_ABNORMAL_HAIR_WHORL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_WHORL SNORD116-1 YY1 UBR1 MED12 PPP2R1A WRN STAMBP FOXP1 MAN1B1 EP300 UBE2A HERC2 CREBBP NPAP1 MKRN3 MAGEL2 SNRPN PWAR1 LMNA PWRN1 MED13L SNORD115-1 NDN FLNA HP_CHERRY_RED_SPOT_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHERRY_RED_SPOT_OF_THE_MACULA GLB1 HEXB SMPD1 GM2A HEXA TMEM231 CTSA PSAP NEU1 GALC ASAH1 HP_NAEVUS_FLAMMEUS_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID DVL3 WNT5A FZD2 DVL1 PUF60 DIS3L2 HP_PEDAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDAL_EDEMA ALB TGM1 KIF1A RBM8A GBA MYD88 SCARB2 MKKS PRKAR1A FLT4 FN1 ZNHIT3 MEFV PLAA VEGFC GJC2 TET2 HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES VAC14 BMPR1B GDF5 FIG4 LMNA HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES MAP3K7 IHH VAC14 ARID1B FIG4 FLNA HP_MEDIAL_FLARING_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAL_FLARING_OF_THE_EYEBROW BBS7 BBS5 MKS1 BBIP1 ELN LZTFL1 APTX MKKS MLXIPL IFT27 BBS10 SDCCAG8 WDPCP IFT172 BBS4 C8orf37 TRIM32 NPHP1 BBS9 SIN3A BBS12 BBS1 BBS2 CEP290 ARL6 TTC8 HP_DIMPLE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMPLE_CHIN NALCN TFAP2A SPECC1L SEMA3E MYH3 TWIST2 CHD7 RUNX2 PIEZO2 TBX22 PIK3R1 KCNJ6 ERF CTU2 EZH2 HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT EDN1 ZMPSTE24 PLCB4 GNAI3 LAMA2 LMNA HP_ABNORMALITY_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PREMAXILLA COLEC11 PTCH1 SMOC1 NRAS EFEMP2 GLI2 NFIX HRAS HP_PROMINENCE_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENCE_OF_THE_PREMAXILLA COLEC11 NRAS EFEMP2 NFIX HRAS HP_ABSENT_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOE ABCC9 NOTCH2 ROR2 FGFR1 DLX5 CTBP1 DACT1 GLI3 SOX4 NSD2 WNT10B SMOC1 MGP KCNH1 DOCK6 IHH SMARCC2 ACVR1 TRPV4 GPC4 FIG4 NEK1 ARHGAP31 DLL4 ARID1B WNT7A HOXA13 GDF5 EOGT FLNA SMARCB1 FGFR2 LMNA SALL1 LETM1 MAP3K7 LRP4 ARID1A SMARCD1 RBPJ SMARCE1 CHSY1 VAC14 APC PORCN FGFRL1 SF3B4 BHLHA9 NOG CHST11 BMP2 SALL4 ARID2 SMARCA4 BMPR1B NOTCH1 SOX11 PUF60 NELFA HOXD13 DOLK CPLX1 PTHLH KCNJ8 GJA1 RIPK4 LMBR1 DPF2 HP_BROAD_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_COLUMELLA ALX4 CWC27 ATP6V1E1 ZSWIM6 CKAP2L FLI1 EXOSC2 SRCAP PIK3C2A GJA1 HDAC4 RDH11 HP_PALMAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_HYPERKERATOSIS KRT14 TGM1 PLEC KDSR KRT5 HPGD KRT10 ZC4H2 KRT17 TERT CTSC PTEN DSP SLURP1 KRT1 MBTPS2 SDR9C7 GJA1 PIGL KRT6A GJB6 KRT16 PIK3CA AKT1 AAAS RHBDF2 SMARCAD1 PKP1 NECTIN1 KRT9 COG6 GJB2 FERMT1 AAGAB NECTIN4 KRT83 HP_ECTOPIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_CALCIFICATION PDGFRB NHP2 CASR PRSS1 KCNJ1 MGP SLC46A1 FGFR1 SC5D SPINK1 NOP10 PEX16 PDGFB MYMK RNASEH2C WRN ZBTB20 ERCC3 MT-TF TREX1 GUSB SMAD6 CPT2 CTNNB1 COL2A1 PRSS2 GNAQ CPA1 WRAP53 ERCC1 TSC1 AP2S1 FXYD2 RNASEH2A TERT PEX1 BRAF NT5E APOB PEX5 MT-ND1 MT-ND4 CTSC TTC7A NSDHL PTCH1 ATP7A ERCC8 COL11A1 PEX6 TSC2 HRAS SAMHD1 PEX26 LMNA GJA1 MT-TQ FAM111A SLC26A2 DENND5A GBA USP18 PEX19 HGD MYORG SUCLA2 VPS33A CA2 FARSB RNASEH2B GNAS GALNT3 PEX10 CYP11A1 PTCH2 OCLN RB1 MT-CO3 NRAS FAM20C GCM2 SUFU SNRPB NKX2-5 ABCG8 LIPA PSMB8 ERCC5 GNPAT PEX12 PEX7 CFTR KRAS PHGDH XPR1 KRIT1 RTEL1 MT-TS2 PCSK9 BMPR1B HFE CDC73 MYO5A THRB JAM2 ALPL MEN1 TINF2 QDPR EBP HSD17B4 ABCC6 SLC2A1 SLC12A3 MT-TH ENPP1 GATA5 TYROBP CTC1 LBR PEX14 TREM2 SLC16A2 PEX3 PEX11B LDLR ERCC6 STAT1 IFNG FLNB ATP7B GDF5 DHCR7 CLCNKB PDE4D ERCC2 ISG15 NPM1 LDLRAP1 AIRE SLC29A3 DKC1 ACVR1 NOTCH3 SLC34A2 NEU1 PTH ADAR GNA11 ANKH PTH1R IFIH1 MT-CO1 GGCX CTRC MT-TW ABCG5 SMARCB1 DDR2 MT-ND5 KIF22 ECM1 ACD TERC TNFRSF11B MT-ND6 CYP27A1 PEX2 ARSL CYP2U1 PARN SLC20A2 FBN1 PEX13 PRKAR1A SLC12A1 NOTCH1 COLGALT1 DAG1 AP1S2 APP TCIRG1 MT-CO2 AGXT PAH TNFRSF11A CTNS EIF2AK3 PSAT1 SNORD118 USB1 DNM1L RNASET2 MT-TL1 AGPS OPA1 AMER1 HP_ANOMALOUS_PULMONARY_VENOUS_RETURN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMALOUS_PULMONARY_VENOUS_RETURN DHCR24 RIPPLY2 HES7 TBX5 LFNG GATA4 GDF1 CDC42 MESP2 NR2F2 WT1 GATA6 TMEM260 MMP21 CITED2 DLL3 RPS15A CRELD1 MYRF HP_HYPERACUSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACUSIS IQSEC2 GM2A ELN LIMK1 RFC2 BAZ1B DEAF1 GTF2IRD1 CLIP2 MLXIPL GTF2I RAI1 TBL2 FLII HP_SKIN_DIMPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_DIMPLE CCL2 OTUD6B NXN SHANK3 CTBP1 NSD2 LIMK1 RFC2 ASXL1 KCNK9 WNT5A MED12 CTCF LIG4 ANK1 ARID1B GTF2I DEAF1 SOX9 TBL2 YWHAE LETM1 RMRP HIC1 PSMD12 ELN DVL1 ALPL EXTL3 KIF15 ERGIC1 COX7B CLIP2 MASP1 CDK10 LIFR TBXT RPL10 VANGL1 FGFRL1 FZD2 BLM RAB23 KMT2A USP9X HCCS BAZ1B TAF1 PAFAH1B1 DPAGT1 SMC1A FUZ DHPS B3GLCT UBA1 KANSL1 AEBP1 NCAPG2 FAT4 NELFA DVL3 HOXA13 NDUFB11 EBP VANGL2 CPLX1 NSUN2 ROR2 TBX4 DCHS1 HNRNPK GTF2IRD1 TMCO1 B9D2 CD96 HP_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA PORCN HPGD ALOXE3 LRP1 SULT2B1 IL17F IL17RC KCNQ2 CTSB IL36RN XPA MVK XRCC4 ERCC3 LIG4 MT-TF ERCC5 SLURP1 KRT9 CSTA PIGL COX7B LORICRIN PKP1 SERPING1 CDKN1B RNF168 KRT5 ADAM17 KIT GJA1 TRPM4 HCCS ITGA3 WNT10A MT-ND1 MT-ND4 USP8 NSDHL KRT1 XPC KRT2 SCN9A COL5A1 MT-CO1 GJB4 EBP MT-TW GJB3 HLA-B MT-TQ MT-ND5 PLCG2 HLA-DRB1 KDSR TGM5 KRT83 MEN1 MT-ND6 ADGRE2 CD28 FECH KRT10 KRT16 DSG4 STAT3 STING1 DDB2 GJB2 AQP5 ATP2C1 TRPV3 COL1A1 IKBKG MEFV ANAPC1 MT-CO3 PEPD TNFRSF1A MBTPS2 AIP IKZF1 AP1S1 IL17RA ELOVL4 NOD2 PSMB8 ERCC2 FERMT1 SLC39A4 CTLA4 ALDH3A2 MT-CO2 CDSN COL5A2 BLM LIPN PERP HLA-DQB1 MT-TS2 GJB6 SCN10A RHOH TGM1 NDUFB11 ERCC4 PDGFB SCN11A CLEC7A CDKN1A TRAF3IP2 CDKN2B TNFRSF1B MT-TL1 CDKN2C NLRP3 MT-TH DSP PGM3 ALOX12B HP_GONADAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_NEOPLASM STAR CTNNB1 WT1 MNX1 STS KEAP1 RAD50 PTEN KIT PMS2 RAD51C STAG3 FLI1 EPCAM SETBP1 EP300 MAP3K1 MC2R ZFPM2 RELA BRCA1 CDH1 WWOX CDC73 FGFR2 IDH2 VHL HNF4A AR VAMP7 MRE11 CDKN1B PTCH1 INHBA TP53 GNAS BRIP1 DHX37 MLH3 STK11 DMPK MSH2 NNT MSH3 AKT1 PAX6 SRY BARD1 HNF1B MSH6 SOX9 PMS1 CREBBP PALLD CDKN2A LMNA NBN DHH BRCA2 RAD51 MLH1 MRAP RNF43 IDH1 CCND1 KRAS NR5A1 DICER1 PALB2 FGFR3 RAD51D WRN C11orf95 TGFBR2 KCNQ1OT1 SMAD4 PRKAR1A PRKN APC2 IGF2 NSD1 PTCH2 NR0B1 DMRT3 CDKN1C BCL10 CHEK2 EWSR1 KCNQ1 PIK3CA TXNRD2 GATA4 OPCML SETD2 WNT10A FAN1 SUFU HP_URINARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_TRACT_NEOPLASM WT1 PIK3CA CDC73 MINPP1 TSC2 KEAP1 SDHB SDHAF2 VHL STK11 PMS2 EPCAM NF1 GPC3 MAP3K1 ZFPM2 WWOX H19 AURKA HNF4A CDKN1B TSC1 NSD1 DLC1 TP53 HABP2 DHX37 AKT1 SDHD MLH3 MSH2 FGFR3 TRIP13 FLCN SDHC FH HNF1B LMNA GPC4 BRCA2 FIBP TRIM37 HRAS SETBP1 FOXE1 NTHL1 CCND1 DICER1 WRN TGFBR2 SRY SDHA POU6F2 BUB3 NOD2 CTNNB1 BUB1 PDGFRL AXIN2 TFE3 MET SEMA4A NRAS SLC25A11 TLR2 TRIM28 IGF2 GATA4 ALX4 BAX RB1 FAN1 CEP57 MLH1 PTPRJ KLLN OGG1 DCC DLST REST IFNG BMPR1A TBX18 BMPER MCC DIS3L2 PTEN VAMP7 PALB2 PTCH1 PAX6 MSH6 SOX9 PMS1 KRAS SEC23B TMEM127 ATP7A BUB1B FN1 PTPN12 AAGAB MDH2 PLA2G2A RNF43 PHF21A COL14A1 NR5A1 EP300 EXT2 KCNQ1OT1 RAD54B HNF1A RNF139 BAP1 MAX NR0B1 FERMT1 DMRT3 KIF1B RPS20 CDKN1C USF3 RET MITF HDAC4 KCNQ1 ODC1 SRC APC PRCC HP_GENITAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENITAL_NEOPLASM DOCK8 PIK3CA CTNNB1 MNX1 STS NAB2 KEAP1 APC PTEN STK11 PMS2 RAD51C STAG3 EPCAM SETBP1 MAP3K1 CHEK2 ZFPM2 RELA BRCA1 CDH1 WWOX FGFR2 AURKA MSH6 RNASEL IDH2 VHL HNF4A CDKN1B DLC1 TP53 BRIP1 DHX37 AKT1 MLH3 PTCH1 MSH2 MSH3 FLCN HNF1B TRIP13 PALLD CDKN2A NBN BRCA2 MRAP AR CCND1 DICER1 PALB2 FGFR3 RAD51D WT1 WRN TGFBR2 SRY KRAS SMAD4 MXI1 BUB3 APC2 BUB1 PDGFRL AXIN2 BCL10 DHH SEMA4A NRAS SDHC EWSR1 TLR2 CDC73 KLF6 TXNRD2 IGF2 GATA4 BAX FAN1 STAR CEP57 MLH1 PTPRJ ZFHX3 EPHB2 KLLN POLD1 FH DCC RAD50 KIT BMPR1A FLI1 MCC EP300 MC2R NTHL1 VAMP7 MRE11 INHBA GNAS STAT6 POLE DMPK NNT PAX6 BARD1 SOX9 PMS1 CREBBP LMNA SEC23B BUB1B RAD51 PTPN12 PLA2G2A RNF43 IDH1 NR5A1 GREM1 C11orf95 KCNQ1OT1 RAD54B SDHB SLC6A17 PRKAR1A PRKN CXCR4 MAD1L1 NSD1 PTCH2 NR0B1 DMRT3 RPS20 CDKN1C USF3 KCNQ1 ODC1 OPCML SRC SETD2 WNT10A SUFU SDHD HP_ABNORMALITY_OF_THE_LEYDIG_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS SMS STAR LHB MRAP CYP11A1 MC2R NNT FSHB TXNRD2 HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION MT-CO2 DARS2 MT-ND6 PSMD12 MT-TS2 ELN CACNA1H MT-ND1 MT-ND4 GABRG2 DMPK MLXIPL BPTF MT-CO3 POMT1 KCNC3 MT-CO1 SLC2A1 MT-TF MT-TW MT-TQ JRK MT-ND5 MT-TL1 GABRB3 MT-TH GABRA1 PRKAR1B MAPT HP_HEMANGIOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOBLASTOMA MDH2 NF1 RET SDHA SDHC FH BMPR1A CCND1 SLC25A11 VHL MAX DLST SDHB SDHAF2 KIF1B TMEM127 SDHD PTEN HP_EVERTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EVERTED_UPPER_LIP_VERMILION AP4M1 KCNH1 EDA EDA2R EDARADD NAA10 KCNK4 WDR26 EDAR AP4E1 AP4B1 GBA RAI1 AP4S1 HP_TENTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENTED_UPPER_LIP_VERMILION PTCH1 RSPRY1 KCNH1 NXN MYL2 NALCN NEXMIF PIGY MBD5 PGAP2 GPC4 KCNK9 ACTA1 MECP2 SIX3 CHAMP1 DEAF1 FOXG1 GAS1 ALDH6A1 STRADA MED25 PAX3 NODAL DIS3L2 PIGT PIGW FOXH1 PIGN PGAP3 UNC80 ATRX KCNJ6 DISP1 TPM2 ZNHIT3 CDON SHH TGIF1 PPP2R1A RAI1 RYR1 BRAT1 PREPL IQSEC2 TCF20 PIGV PLAA PIGO CDC42 EEF1A2 TBCK SLC25A46 TPM3 SUFU DMPK HACD1 PIGL NCAPG2 FAT4 IL1RAPL1 FGF8 ITGA7 TMEM237 SELENON DLL1 ROR2 IER3IP1 MAP3K20 GLI2 DCHS1 RAB11B ADAMTSL1 MEIS2 TDGF1 FGFR1 ZIC2 WDR4 FLII HP_U_SHAPED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_U_SHAPED_UPPER_LIP_VERMILION ZSWIM6 ATRX EHMT1 ZC4H2 OFD1 HP_OPEN_BITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_BITE FGFR2 TWIST1 COL5A2 PORCN NXN FZD2 NOTCH2 FAM83H LIMK1 RFC2 TCOF1 BAZ1B GPR68 RUNX2 PTEN GNAS WNT5A OFD1 COL1A1 GTF2I TBL2 DVL3 PRKAR1A COL5A1 MMP20 OCRL CUL4B RAI1 ELN ROR2 SOBP BMP2 DVL1 POLR1C ADAMTS2 POLR1D FGFR3 PDE4D GTF2IRD1 BRAF CLIP2 AMELX ITGB6 HP_PROTRUDING_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_TONGUE CLIC2 EHMT1 CDCA7 CHUK CSNK2B DNMT3B VPS13A CCDC22 GATA1 UBE3A SLC25A24 HELLS MGAT2 PTH1R NFIX INPP5E ZBTB24 FAM20C COG7 FTO TAF1 PEX1 ATRX NRXN1 LAMA2 HP_EPIDERMAL_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_NEVUS NEK9 NRAS AKT1 PTEN HRAS KRAS HP_ATONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATONIC_SEIZURE CASK GAMT ATP6AP2 PIGQ PCDH19 PNKP GABRD CHD2 DMXL2 DOCK7 STXBP1 DNM1 NGLY1 PRICKLE1 PIGM SIK1 GABRA1 STX1B SLC6A1 CSNK2A1 KCNA1 SCN1A AP2M1 CDKL5 GABRG2 GABRB3 ADGRV1 CUX2 PIGP SCN9A NHLRC1 HCN1 SCN2A NEUROD2 TRIM8 GOSR2 EPM2A MAPK10 PHGDH SCN1B ARX GNAO1 SLC25A22 HP_HEMIFACIAL_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIFACIAL_SPASM SMARCB1 BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO SMARCE1 NF2 INPP5E TRAF7 HP_IMPAIRED_TEMPERATURE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TEMPERATURE_SENSATION SLCO2A1 MFN2 TGM1 HSPB1 HPGD NTRK1 ABCA1 AEBP1 NGF HP_IMPAIRED_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TACTILE_SENSATION KLHL9 MPV17 GALC HK1 PLEKHG4 SACS SETX MORC2 CLTCL1 DCAF8 DDHD1 HARS1 HP_IMPAIRED_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PROPRIOCEPTION NAGLU STUB1 DNAJC3 DARS2 OPA3 RFC1 TWNK POLG PRX GBA2 FXN MPZ CYP7B1 TBP FLVCR1 PMP22 POLR3A SAR1B VPS37A PLD3 GPI TDP1 PLEKHG4 XRCC1 REEP1 VAMP1 RTN2 PIEZO2 PDYN SETX EGR2 MFN2 ATN1 ATXN1 RNF170 HP_ABNORMALITY_OF_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PAIN_SENSATION LIFR SHANK3 CHST14 HK1 OPA1 HSPB1 ELP1 SNORD116-1 SCN11A PRPS1 SCN10A FBN1 DDHD1 CHAMP1 NTRK1 HARS1 H19 NOTCH3 PMP22 ZFHX2 MEN1 DEAF1 ALDH18A1 SNRPN PWAR1 PWRN1 NDN ABCA1 SCN9A DSE CCT5 NGF RAI1 KCNQ1OT1 IQSEC2 GRIA3 IGF2 WNK1 KIF1A NGLY1 MFN2 AIFM1 CDKL5 RETREG1 HERC2 TDP1 GJB1 NPAP1 MKRN3 MAGEL2 UBTF MPV17 CLTCL1 SNORD115-1 FLII HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION ATP7B SPATA5 ATP6V0A2 TMPRSS6 SCO2 COG2 AP1S1 AP1B1 HP_DECREASED_SERUM_CERULOPLASMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_CERULOPLASMIN TMEM199 SLC33A1 COG2 CP AP1S1 CCDC115 AP1B1 HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES GNB1 GABRA1 CASK NSUN2 PCDH19 PIGQ TNIK PNKP DMXL2 MYD88 B3GALNT2 NDST1 CARS2 DOCK7 LMAN2L DCPS STXBP1 HNMT CRADD GRIK2 SIK1 METTL23 WASHC4 SCN9A PIGT KCNA1 PIGC FMN2 LINS1 FBXO31 CDKL5 MED25 GABRG2 TUSC3 SARS1 MED13L AIMP1 PIGP MBOAT7 TRAPPC9 ST3GAL5 CC2D1A FRRS1L EDC3 CRBN PRSS12 NEUROD2 MED23 KDM5B PPP3CA TRIM8 ACTL6B TECR SLC45A1 SCN1A PGAP1 C12orf4 ARX GNAO1 MAN1B1 SCN2A EZR SCN1B RSRC1 ST3GAL3 IQSEC1 CLTCL1 FGF12 SLC25A22 ZC3H14 CLIP1 HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY PIGY FGF12 DNM1 DHDDS SCN8A AARS1 KCNA2 SYNJ1 UBA5 GABRG2 SCN3A CYFIP2 GRIN2D GABRA5 WWOX PPP3CA ARV1 GABRB2 SLC13A5 TRAK1 CACNA1B ACTL6B YWHAG GRIN2A CLTC NTRK2 HCN1 CNKSR2 AP3B2 EEF1A2 KCNB1 SLC1A2 SYNGAP1 ATP6V1A PARS2 NECAP1 STXBP1 GABRA2 SZT2 NUS1 CACNA1A HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY C9orf72 CYP27A1 GRN TREM2 SQSTM1 KPTN TMEM106B CDKL5 CHMP2B PSEN1 VCP MAPT 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_ SLC6A1 EFHC1 KCNMA1 CHD2 GABRG2 AP2M1 HP_EEG_WITH_SPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES CASK MYO9A EFHC1 PIGY PIGQ PNKP GABRD CHD2 DMXL2 VAMP1 COL13A1 AGRN STXBP1 GABRG2 SNAP25 SAMD12 CHAT SIK1 STX1B SCARB2 SLC6A1 KCNMA1 PIGT KCNA1 PIGW PRICKLE1 SCN1A SLC18A3 SRPX2 STARD7 AP2M1 CDKL5 CACNB4 TBC1D24 GABRA1 GRIN2A ADGRV1 PIGP KCNQ3 PIGO JRK HCN1 SCN2A CILK1 CACNA1H CLCN2 SCN9A NEUROD2 PIGL TRIM8 SYT1 SLC5A7 CSTB CPLX1 SLC2A1 SYT2 SCN1B PGAP3 ARX GNAO1 PSAT1 SLC25A1 GABRB3 PGAP2 PIGV SLC25A22 HP_EEG_WITH_BURST_SUPPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_BURST_SUPPRESSION CASK PNPO ALG11 PIGQ KCNA1 PNKP STXBP1 DMXL2 UGDH ARX GNAO1 DPM2 SCN2A CDKL5 SCN1B KCNQ2 NEUROD2 TRIM8 SLC25A22 SIK1 PIGP HP_DELAYED_FINE_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_FINE_MOTOR_DEVELOPMENT SNX14 TBC1D24 COL12A1 CPLX1 CLP1 TET3 CLCN7 TUBB3 ITPR1 HP_RECEPTIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECEPTIVE_LANGUAGE_DELAY GRHL3 SH2B1 SPATA5 UBB FOXP2 PAK1 FLCN HP_INTELLECTUAL_DISABILITY_SEVERE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_SEVERE SNX14 PIGY CTBP1 NDUFS1 TMEM231 LIPT1 PHF6 CLCN4 PDX1 LMAN2L AMMECR1 POMT1 FOXG1 ARX SPTAN1 PEX7 NDUFS8 STIL KCNJ11 ECHS1 NDUFS7 SETBP1 STAT3 RAB39B SLC13A5 FGFRL1 ARHGEF6 SLC6A17 DYRK1A NFIX FKTN CEP135 PET100 KNL1 AP4E1 NDUFAF2 KIF1A TELO2 NKX2-5 EML1 GMPPB HNMT IL1RAPL1 DYNC1I2 CDK6 ATRX ZC3H14 CLIP1 SMARCA2 SLC35A2 L2HGDH KDM5C KCNH1 GATAD2B NKX2-1 CAMK2A PHYH FKRP POMGNT1 SUFU TIMM50 RAD21 TSHB FBXO31 RPS6KA3 MED25 MID2 KLHL7 BRF1 MBOAT7 NDUFV1 AHSG TRAPPC9 TRAPPC6B RAB18 FOXRED1 TBC1D20 ROGDI MED23 MGAT2 TSPAN7 C2CD3 PHC1 SDHA ASXL3 PNKP SMC1A PEX1 ACAT1 LARP7 LETM1 STAG1 SLC26A4 PIGV AP4B1 SLC19A3 TBC1D23 TSHR GAMT MECP2 NTRK2 TUBA1A PPP2R5D ZNHIT3 FOXP1 RAB3GAP2 NDUFA12 IQSEC2 NSD2 ALG13 FOXE1 ACOX1 CC2D1A GCK GRIA3 FRMD4A POMT2 PEX5 NCAPD3 FRRS1L DCHS1 SUCLG1 TTI2 PRSS12 L1CAM KDM5B NANS STXBP1 NELFA CENPJ UQCRQ PGAP1 CPLX1 OTUD6B MAN1B1 RSRC1 ZNF41 ST3GAL3 IQSEC1 ZEB2 KIF14 ZNF711 SASS6 CHRNA7 COX15 NAGA HMGCL FAT4 ARHGEF9 SYP NDUFA10 PAX8 GDI1 ARG1 SLC9A7 PCDH19 MTFMT TUSC3 KCNJ6 PPP1R15B KMT2A AIMP1 NDUFA2 SATB2 RPL10 EDC3 NDUFA4 SLC35C1 CRBN PAH ANKLE2 CYB5R3 MT-ATP6 ARFGEF2 NDUFA9 PRMT7 SON MED12 HDAC8 PGAP2 THOC6 ZIC1 MFSD2A ACO2 NALCN RAB3GAP1 SNAP29 NDUFAF6 CTSD ACSL4 RTTN ABCC8 CRADD CTNNA2 SHROOM4 FTSJ1 MCPH1 CDK5RAP2 UPF3B NIN LINS1 NDUFA13 HERC1 GRIN1 WIPI2 PLEKHG2 KIF7 NIPBL SPATA5 HCFC1 MEF2C WASF1 RFT1 SLC9A6 CXorf56 MBTPS2 SLC45A1 TMEM237 AP4M1 UBE3B HTT EIF2S3 SMC3 KAT6A TRMT10A AP4S1 SEMA5A TMEM107 YY1 DCPS NRXN1 UBE3A TAF13 NDUFAF5 GRIN2A INS KAT6B PIGC CYB5A CNKSR2 PAK1 LARGE1 DAG1 DCX SARS1 UBE2A PCNA GLI3 DMPK ASPM CEP63 HUWE1 FGFR3 EEF1A2 ASXL1 SMOC1 C12orf4 BCAP31 TCF4 UBTF EZR MAP11 PTCHD1 NSUN2 TNIK SLC16A2 TACO1 MBD5 SRD5A3 GRIK2 LMX1B WDR62 EXT2 USP27X PIGT SOBP FMN2 NDUFV2 KCNE5 THOC2 UNC80 PYCR2 METTL5 POGZ COG5 SURF1 EHMT1 PIGO DNMT3A KLF13 AGTR2 PIGL SLC35A3 PAK3 CTNND2 PDHA1 OFD1 SETD5 CEP152 FRMPD4 B3GALNT2 NDST1 GOT2 EPB41L1 HNRNPU NDUFS3 DLG3 NDUFS2 NDUFS4 CNTNAP2 METTL23 WASHC4 PIGW DMD NACC1 COPB2 ATIC TMX2 TECR CACNA1D CUL4B UROC1 UBA5 USP9X PGAP3 NDE1 CIT ERLIN2 AP1S2 ZNF81 FUCA1 WDR81 HP_SENSORY_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_ATAXIA NAGLU FLVCR1 DNAJC3 PMP22 GPI TWNK PRX PIEZO2 MPZ EGR2 RNF170 HP_TENDON_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENDON_XANTHOMATOSIS LDLRAP1 APOB CYP27A1 ABCG8 APOE TTPA ABCG5 PCSK9 LDLR HP_ABNORMAL_CIRCULATING_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEIN_LEVEL IL2RA CASR BCS1L LIMK1 POMK SYNJ1 RAG1 SUCLA2 NEB CPT2 PDX1 FRG1 PSEN1 POMGNT2 FKRP MYH7 POMT1 LPIN1 FHL1 NARS2 B4GAT1 MAGI2 TSFM LMNA TIA1 CRPPA KLF11 RAF1 KLHL9 OCRL NOTCH3 COG7 DNM2 PABPN1 LARGE1 ELN CTLA4 TNNI3 NEFL DPM2 GMPPB TDP1 RRM2B GPR35 TK2 LIPE SYNE2 HAMP ATM TRIM32 LIMS2 DOLK C19orf12 HADH CP DMD DNA2 FKTN PIEZO1 LAMA2 MAD2L2 IL6 POLG2 PLG VPS13A SPINK1 AGXT DAG1 TCF4 FTL AP1B1 COL6A2 ALB NPHS1 SLC7A7 FHL2 INS SYNE1 SLC35A2 TMTC3 PRSS2 ACTN2 BSCL2 WDR4 PDSS2 CAV3 PKLR MYMK COL6A1 MT-TW HNRNPA1 AGL CRYAB INSR CHCHD10 HLA-DQA1 POMGNT1 CSF2RB DYSF ACADVL COL6A3 HAVCR2 STX11 CAPN3 SLC40A1 VCP DES TPM2 LRP12 SLC25A20 LAMA4 ATP5F1D MST1 TRAPPC11 TMPO TNNT2 APTX NPHS2 CFTR COL4A1 LAMP2 AR COA7 SGCG AP1S1 FOS MICU1 PTPRO HFE MMP1 GNPTAB PLEC HLA-DPB1 TOR1AIP1 DGUOK MET AGPAT2 GLRX5 GNE HNRNPDL MYH14 PMM2 USB1 GTF2IRD1 COG8 TPM1 PPARG ALG14 HNRNPA2B1 HLA-DQB1 DPM3 SGCB PIGY SPIB AP5Z1 PRF1 RFC2 PLA2G6 NLRC4 INPP5K SIL1 MYPN SGCA HAND2 POLG ACTA1 TMEM199 CPT1A SGPL1 B4GALT1 STEAP3 DPAGT1 PLEKHG5 RNASEH1 DNMT3B B3GALNT2 TMEM43 BVES NEBL TAF1A ITGA6 RBM20 ORAI1 B2M CLIP2 PYGM POMT2 SCN4A SQSTM1 EMD XK CACNA1S KCNN4 MT-TL2 GFER STIM1 ITGA3 STAT6 NEUROD1 TFAM MGME1 CAP2 CHKB RXYLT1 GCK CTRC CCND1 PGAM2 SMCHD1 PRSS1 ACADM HBB RYR1 ALG2 PRTN3 IL2RB UNC93B1 TMPRSS6 DNAJB6 CCDC115 DPM1 GAA GNPTG MKS1 FLNC BMP2 PLVAP HJV MTMR14 PAX4 AHCY ANKRD55 NUP107 FOXP3 HINT1 IL12RB1 LTBP4 HNF1A TANGO2 RFXANK CAV1 ABCC9 CD247 HNF4A MMEL1 CFL2 DCLRE1C CIITA PIGN KCNA1 LAMB2 IRF5 TTN KCNJ18 ACAD9 CAVIN1 ANO5 NGLY1 TPM3 NSUN2 GFPT1 DSG2 ALG8 ACTN4 SLC25A4 COL7A1 SLC33A1 NLRP12 FTH1 KLHL41 PGM1 NAB2 SLC25A13 ANKRD1 MPI MT-TE MYBPC3 TAZ TCAP SDHD ISCA1 PTEN CPA1 MYOT PTPN22 LMOD3 TXNRD2 MATR3 MSTO1 HSPG2 COQ2 NPPA MYF6 FKBP14 BLK GATAD1 SELENON COL12A1 PIK3R5 C1QBP PHKA1 VCL VMA21 POGLUT1 PRDM16 SGCD AFP RFXAP TTC37 TNNC1 FARSB TF KCNJ11 DMGDH PEX6 ACADL TNFRSF1A TRMU DGAT1 TMEM165 PNPLA2 BIN1 TRPV4 PLCE1 TFR2 ATP6V0A2 TWNK COG2 BAZ1B FLAD1 TLR3 CCBE1 CSF2RA ABHD5 TRAF3 HACD1 ISCU TNPO3 GOSR2 TRAPPC2L ITGA7 SDHA HLA-DPA1 PPCS UBR1 SMAD4 PLN ABCC8 CTNNB1 CNBP MVK TRIP4 FAM111B ADSS1 VPS33A PDK3 ITGB4 ATP6V1A TICAM1 CRLF1 BAG3 FAH LPL BMPR1A TMPRSS15 RBCK1 SAR1B GTF2I FLI1 RAG2 HLA-DRB1 MT-TN KBTBD13 XIAP PSEN2 PIEZO2 IFNGR1 PTPN2 SLC30A10 MIF SCN5A RNF168 CASQ1 MPZ UQCRFS1 INHBA MPV17 NEFH STXBP2 POU2AF1 SLC52A2 DOK7 KY ACTC1 TKFC DUX4 STAT4 MT-TL1 LAMA1 NOS1 LDB3 SLC16A1 FN1 IL12A COL9A3 TBK1 MYL2 MYO1E APPL1 COQ8B PRPS1 CSRP3 KCNE3 NLRP3 TBL2 IGFALS CEL TBCD SETX ARHGDIA ENO3 PUS1 ATP6V1E1 LDHA SLC25A38 TFG PYROXD1 NUP133 CD55 SLC4A1 LACC1 SLC25A42 MAP3K20 TNFSF15 MYH6 RFX5 AIFM1 NEXN WDR73 TET2 OSGEP GABRA3 FDX2 HP_INCREASED_NUCHAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_NUCHAL_TRANSLUCENCY SETD5 FGFR3 DHCR7 CEP57 LIMK1 RFC2 BAZ1B GTF2I TBL2 GPC6 BMPER ELN RAD21 BUB3 ATN1 TRIP13 SMC1A GTF2IRD1 CLIP2 HDAC8 VAC14 BUB1 BUB1B FIG4 NIPBL SMC3 KMT2A PIGN HP_ABNORMALITY_OF_THE_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD PIGY HOXD13 CCDC22 PACS1 HSPG2 FOXF1 NRAS WNT3 PHGDH PIGO MKS1 LMNA F7 ZMPSTE24 PIGL SCARF2 ADGRG6 GATA6 FANCB TAPT1 PIGW MCTP2 F13A1 PGAP3 MUSK WASHC5 ITGB2 POR PGAP2 F13B PIGV HP_AVASCULAR_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS IL12A TERT HLA-B PHF6 ELP1 INPP5K GBA TRPS1 SIL1 KRAS SMAD3 FGFR1 WNT5A MAN2B1 PTPN11 NOP10 PARN SH3PXD2B EP300 ACAN MEFV C4A IL12A-AS1 DVL1 CA2 UBAC2 SLCO2A1 IL10 EXT2 COL1A2 NPM1 WRAP53 EXT1 ARSB STAT4 CLCN7 FZD2 HBB SLC2A10 IL23R ERAP1 NHP2 RTEL1 SCARB2 COL2A1 CCR1 COL1A1 COMP HPGD KLRC4 CDH23 DVL3 TRPV4 ATP7A UFSP2 USB1 TINF2 CTC1 CREBBP TLR4 ACTG1 ADAMTS2 DKC1 ACTB USP8 FAS TERC ORC1 HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION DLD BCKDHA BCKDHB DBT BCKDK MCCC2 MCCC1 HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION GCH1 PAH SPR PCBD1 PTS QDPR 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 GLYCTK IRF6 GLDC SARDH PNPO PHGDH GLRX5 MMAB AMT SLC7A7 SLC25A13 PCCB PCCA PSAT1 PSPH MMAA SLC30A10 MMUT GCSH HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION GLYCTK IRF6 GLDC PNPO PHGDH GLRX5 MMAB AMT SLC7A7 PCCB PCCA PSAT1 MMAA SLC30A10 MMUT GCSH HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION AASS SLC25A13 PNPO TTC37 ASPA PRDX1 NADK2 MTRR AHCY CBS MMADHC GNMT MMACHC FAH ADK MTR MAT1A GUCY2D HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION SLC25A13 TTC37 PRDX1 MTRR AHCY CBS MMADHC GNMT MMACHC FAH ADK MTR MAT1A HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION PRODH CPS1 SLC6A20 SLC6A18 ALDH4A1 SLC7A7 ASL SLC36A2 NAGS PLOD2 SLC6A19 PNPO TNFRSF11B TNFRSF11A ASS1 OTC SLC25A13 TALDO1 HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION ASL TALDO1 ASS1 NAGS SLC7A7 OTC SLC25A13 HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION PRODH SLC36A2 TNFRSF11B TNFRSF11A SLC6A20 SLC6A19 SLC6A18 ALDH4A1 SLC7A7 PLOD2 HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION ASL PNPO ASS1 CPS1 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 NDUFA13 TMEM70 MICOS13 SLC7A7 MT-TV MT-ND4 FBXL4 PDHX LIPT2 RRM2B POLG ATP5F1A PDHA1 MT-TL1 MT-ATP6 MT-ND1 FBP1 MRPL3 MT-ND3 TMEM126B COQ9 MT-TK SLC25A13 TRMT10C PNPLA8 MT-TW MT-ND5 PC CA5A MTO1 MT-ND6 MIPEP MT-ND2 NAGS TYMP HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION FAH HPD PNPO TAT SLC25A13 HP_ZONULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZONULAR_CATARACT GNA11 VIM BAP1 GJA3 OPA3 GNAQ SF3B1 MAF CFAP410 CHMP4B CRYGC WFS1 CRYBA4 SEC23A CRYBB3 OCRL CYSLTR2 BFSP1 FTL GJA8 BEST1 CRYBB2 MIP RECQL4 SLC2A1 LIM2 HSF4 CRYBB1 NHS CRYBA1 NF2 HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION TBCE CAV1 SDHD CDC73 RET LIMK1 RFC2 KCNJ1 VHL DLST SDHB SDHAF2 GTF2I CACNA1S GNAS NF1 CSF1R PIGT OSTM1 ELN EGF GNAS-AS1 CLCNKB HADHA ORAI1 CLIP2 FAM111A COMT SLC30A10 TMEM127 CASR CDKN1B CLCN7 AP2S1 JMJD1C FXYD2 CHD7 GNA11 PDGFRB VDR TNFRSF11A NOTCH3 PTH HIRA ADAMTS3 GDNF ALDOB RREB1 DGCR8 BTNL2 SDHC FH TBX1 SLC3A1 SLC34A1 CCND1 ATP1A1 SLC39A8 PREPL STX16 CYP27B1 ALG12 CACNA1C CLDN10 CYP24A1 MEN1 MDH2 SEMA3E DNMT3A SLC12A3 CNNM2 ESS2 FARSB PRKAR1A PLVAP CLDN16 GCM2 PDE4D MLXIPL FOXP3 TRIO TBL2 ACADVL RMRP CDKN1C SDHA PIK3C2A DGCR2 ALPL ARVCF MAX SLC12A1 CCBE1 KIF1B TCIRG1 PTH1R DGCR6 SLC39A14 SLC4A1 GATA3 EPAS1 TNFSF11 KCNJ18 TRPM6 BAZ1B SLC25A11 HLA-DRB1 UBR1 SEC24C PPM1B SNX10 CLDN19 KCNJ10 BTK SARS2 CYP2R1 HADHB CDKN1A IFT122 GP1BB GTF2IRD1 CDKN2B UFD1 FAT4 CDKN2C COL10A1 CAMKMT GABRA3 HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION CYP11B2 STAR KCNE2 GATM PRF1 NNT KCNJ1 TICAM1 DSG1 INSR SCN4A LPIN1 CAV3 BMPR1A CLCN2 CACNA1S KCNJ5 ARNT2 NUP214 SCNN1A MC2R CTNS CLCNKB CLCNKA AVPR2 SCNN1G TDP2 CASR ABCB6 SLC4A1 SAMD9 CACNA1C SCNN1B HSD3B2 KCNH2 FXYD2 KCNN4 WNK4 USP8 KCNQ1 INVS KCNJ18 CDH23 CYP11B1 CACNA1D KCNE1 ATP1A1 NOS1AP TRDN CALM1 NR0B1 CYP17A1 WNK1 RYR1 CLDN10 MAGED2 UNC93B1 MRAP TBK1 SLC12A3 SCN10A ELP1 PLVAP FGFR1 CYP11A1 KCNE3 NR3C2 HMBS KLHL3 NR3C1 TBX19 KCNJ2 CA12 AIP SCN4B SLC12A1 AKAP9 AQP2 NFKB2 PIEZO1 SNTA1 HSD11B2 SLC2A2 SLC26A3 CPOX TLR3 TRAF3 KCNJ10 SARS2 TXNRD2 SLC2A1 OCRL TP53 CALM2 ANK2 SMAD4 SCN5A BSND SLC30A9 CUL3 COL3A1 GABRA3 HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION CYP11B2 STAR MRAP TBK1 PRF1 NNT TICAM1 ELP1 DSG1 PLVAP FGFR1 CYP11A1 NR3C2 HMBS AVPR2 ARNT2 NUP214 SCNN1A TBX19 MC2R CA12 CLCNKA AQP2 NFKB2 SCNN1G TDP2 SCN4A SAMD9 SCNN1B HSD3B2 SLC26A3 CPOX TLR3 CTNS TRAF3 SARS2 TXNRD2 CLCNKB OCRL CYP11B1 NR0B1 BSND MAGED2 UNC93B1 HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT WT1 SMARCAL1 SLC34A1 SDCCAG8 KCNJ1 MICOS13 INSR ELP1 IL17F AMMECR1 KCNAB2 NF1 STIL CASP10 KCNJ11 CC2D2A GPR35 MYLK TMEM138 DYNC2LI1 RAG2 SLC9A3R1 NSD1 CYP11B2 GNA11 KRT17 SF3B4 GLA WDR35 CCR1 CEP41 CCR6 NDUFS3 BPTF NUP133 ANOS1 PIK3CA MOCOS INS SIX1 GBA CDK6 CFI FGFR3 MT-TT XRCC4 CLCNKB BSCL2 PIEZO2 BCOR LMNB2 IFT43 PHYH SLX4 DICER1 OCLN KMT2D NUP93 BBS4 ABCG8 BUB3 DHODH LRP5 AQP2 ATRX AKT3 SCARB2 ABCA12 FANCI FGFR1 BRF1 RAI1 RAB18 FOXF1 EDNRB CLCN5 FLRT3 SLC25A11 EVC2 SI TBC1D20 WNT4 PHC1 SOX9 FGF8 SALL4 LZTFL1 LTBP4 IFT80 UFD1 NDUFAF3 TDGF1 TMEM126B SDHD SEC61A1 LPIN2 IRF5 PTPRJ FANCE KITLG WIPF1 DLST COX6B1 HBB GANAB PKHD1 FGFR2 DCC COX14 ATP7B EP300 POU3F4 FREM1 LFNG SLC5A2 COL4A3 KIF14 EXTL3 DEAF1 PYGM WDPCP HESX1 ACTG2 PIGP WAS ZFP57 IL23R FANCL CFH DIS3L2 PEX12 NCAPD3 DCHS1 ITGA3 SMAD4 MAFB NDUFV1 PEX5 USP8 PCK1 TGM1 CFHR1 CREBBP PLG PKD1 STK11 PREPL IRAK1 MT-ND6 AKT1 DNMT3A NSD2 C8orf37 PEX2 MAD2L2 ZMPSTE24 WDR19 PPP2R1A FOXP3 APC MT-TL1 NODAL MSH6 DYNC2H1 KCNA1 PRDX1 PEX13 SMARCE1 ALPL NEK1 MEOX1 NDUFB3 PBX1 KCNJ10 CDKN1C PTEN RFWD3 PIGN PIGT KCNQ1OT1 COL5A2 H19 LEMD3 FGA PYGL MITF CHRM3 CDC45 FAT4 TAPT1 MMUT DLL1 C3 KIF1B PALB2 NDUFS7 PDE6D CAMKMT ACSL4 MNX1 RTTN VHL ABCC8 KEAP1 SC5D SDHB STXBP1 STRADA EIF2AK3 NPHP3 MKKS FKRP ABCC6 TACO1 MCPH1 NEK8 SMARCD1 HES7 MT-TF ALMS1 C1QA CDK5RAP2 TRPC6 CCDC28B MT-ND3 PIGL C4A AVPR2 APOE AURKA AMER1 CYP4F22 PRDM16 MRPS22 AP2S1 TP53 SLC7A9 ITGB4 COLEC11 PRKCSH APRT GDNF MBTPS2 RREB1 IFT140 TMEM237 HOXA13 CAD TSC2 PAH C1QBP WASHC5 SCN2A PC TMEM216 CYB561 TMCO1 PEX19 CFTR NDUFS1 ITGA2 NXN BBS12 LMOD1 MKS1 SOX10 NUP205 ZBTB16 COA8 SRY WDR60 FLT1 SMARCB1 RECQL4 PPP2R3C PSMD12 POR FAS MMACHC DISP1 ROBO2 PDGFRL AXIN2 FLNA PTPN22 ASPM NRAS KYNU NAA10 TLR2 CENPF CCBE1 CDC73 GATA4 SLC2A9 F8 TREX1 UBR1 EBP KCTD1 TRIM28 GP1BB SBDS SLC12A3 MAP11 REN TNXB RAD51 EMP2 NRIP1 ATN1 COL4A4 HNF1B PEX11B KLLN FH SLC17A5 ADAT3 LIG4 IFT27 INPP5E EXT2 SMC3 MAP2K2 UMOD ESCO2 BRAF STAT4 BBS7 PIGO HRAS SNAP29 TBX22 COL4A1 PLCD1 ADAMTS3 RAD51C CDH23 NDUFS4 FOXC2 LMNA CDC42 GLMN SLC3A1 TBX1 CD96 DPH1 PTPN12 OFD1 RPGRIP1L SETD5 CCDC22 APPL1 COL14A1 IL2RG COQ8B ALOX12B MT-ND4 SLC6A17 PIGW SERPINF2 HELLPAR HNF1A NR0B1 DMRT3 PEX6 COPB2 NDUFB9 ITGA8 HLA-DRB1 MT-TV NPHP4 CD46 HPRT1 TP63 IFT172 CACNA1D BUB1B RPL11 CCN2 SLC30A9 ANTXR1 SLC34A3 KDM6A CFHR3 OSGEP NUBPL SMS PIGY TMEM231 LIMK1 GRHPR MINPP1 PDX1 LPIN1 NARS2 MAGI2 AFF4 LYZ ARL6 ELN NADK2 NUP160 CEP55 POLE GBE1 TSC1 FUT8 ALDH18A1 HABP2 WDR4 SAA1 ADGRG2 NSDHL ZNF592 CEP135 KANSL1 NDUFV2 KNL1 ERCC8 ROR2 HMGA2 GPC4 MT-TQ XYLT2 NLRP3 KMT2A DSTYK FOXI1 CA2 MYD88 LMAN1 LRP2 PEX1 DZIP1L GCM2 NDUFB10 SIX3 FRAS1 CORIN AGGF1 NOD2 NUMA1 RERE UQCC2 MASP1 B9D1 EXT1 CTU2 AGTR1 FANCB SLC1A1 FIBP FOS PTPRO CCDC141 CPLANE1 PUS3 PAX2 SPP1 ARMC5 IGF2 STAMBP TRAF3IP1 HLA-DPB1 DHDDS MEN1 LMX1B CSPP1 MT-TH PIGV HGD PEX14 IL12A RIPK4 ERCC4 DMXL2 FCGR2B REST SGPL1 MOCS2 CAV1 BBS10 SRP54 DHCR24 ARNT2 PCK2 BBS9 CD2AP DNASE1L3 NABP1 HPSE2 AR ALG1 SKIV2L COA3 G6PC PDGFRB INF2 ENPP1 NEUROD1 C1QC UMPS DNAJB11 CTNS BRCA2 NELFA NECTIN1 CD151 MT-CO1 TBL1XR1 CCND1 NSUN2 TRRAP BRCA1 ATP7A PRTN3 ZEB2 HOXD13 TCTN2 SNAI2 SASS6 ETFDH PLVAP PNPLA6 SULT2B1 F10 SON NUP107 LCAT GATA6 FGF17 PIK3C2A STRA6 IL17RA COQ6 CDKL5 BUB1 YAP1 MT-CO2 RET STOX1 COX20 USP9X INTU HDAC4 SPECC1L PPM1B IARS1 PEX3 MGME1 ARX ODC1 HSD11B2 NPHP1 RAG1 PRCC CEP120 SCO1 PHGDH G6PC3 SLC36A2 SEC63 RBM8A MYMK GDF6 MAP3K1 SRCAP CPT2 MDM2 WWOX RAB3GAP2 HOGA1 MYH11 PET100 GLI3 PML SLC29A3 GP1BA WDR11 SCNN1B PAX6 HSPG2 FBLN5 ZNF148 BLK SDHC SEMA3E FANCF TBX3 CHD7 MESP2 SHH CEP290 ZIC2 MYO5B PGK1 PLEC KAT6A VDR FANCG PPP3CA FUZ NIPBL YY1 ASXL1 IL7R ITGA2B FBN1 COQ7 KIAA0753 ALDOB LETM1 GABBR2 APC2 EYA1 PIGA ACP5 ZAP70 TPRKB MCM5 EPAS1 TFE3 SIX5 TRIM8 ETFA ALOXE3 PKD2 MT-TN SMO FGF10 BAX THOC6 TRAF3IP2 ZNF423 DPF2 VPS33A NOTCH2 SLC4A4 DACT1 PRKAR1A CEP83 LRP4 WDR62 ANKS6 OCRL DHCR7 B9D2 RASGRP1 POGZ LDLRAP1 TMEM67 KIF7 EHMT1 GNB1 MLH3 NOTCH3 HNF4A INVS PQBP1 FLCN VIPAS39 RARB GRIP1 GLI2 WDR73 TMEM127 KAT6B EBF3 BBIP1 AAGAB PACS1 TP53RK NDUFAF1 FBXL4 COL1A1 HMBS DNASE1 MAX GPC3 VAC14 USF3 DNAJC21 CCNQ NBN CWC27 C1QB CD109 ENG TKT CLEC7A TALDO1 BSND RPL26 CIT TRIP11 PGM3 SOX18 PROKR2 GATM BCS1L HAAO KRAS POMT1 FAN1 B4GAT1 ARID1B MEFV OSTM1 CTLA4 BRIP1 INSL3 GATA3 MED25 TTC37 FXYD2 MTRR MSH3 NCAPG2 STX3 TRIM32 TCF4 ALG8 MT-TK NPHS1 SLC7A7 SETBP1 IRF2BP2 SLC35A2 SLC37A4 TFAP2A PTCH1 PIGQ CHST14 RPGRIP1 XDH PDSS2 EDNRA KCNH1 GALNT3 CLDN16 PEX10 WRN DVL1 COX8A POU6F2 RAD21 GREB1L IL6 CTNNB1 SLC25A20 FANCA KLHL7 WFS1 MST1 DSE NDUFS6 NPHS2 SLC2A2 MET RAB23 GEMIN4 SCNN1A XRCC2 KISS1R FAM20A NTNG1 B2M CRTAP PIK3R2 WNT5A ALX4 AGPAT2 HSD17B4 DCLRE1C PMM2 GTF2IRD1 MT-ND5 NDUFS8 GPKOW SLC22A12 COL18A1 CEP57 FANCM LDLR ERCC6 CPT1A MUC1 CLIP2 GCK COG6 COMT DCDC2 SFTPC XYLT1 SLC4A1 RMRP SLITRK6 GLIS3 ERAP1 NDUFS2 BICC1 CFHR5 HIRA DKC1 TBCK GNAO1 TMEM107 PGAM2 SEC23B WDR34 CYP24A1 MDH2 GSN PLA2G2A TBC1D24 HLA-B MT-CYB WNT3 TTC8 SLC6A20 PAX4 IQCB1 PLAGL1 PRKCD ADAMTS13 ARL3 CEP164 SLC12A1 CLDN19 RPS26 TTC21B AGXT LAMB2 CILK1 ARID2 KCNQ1 ERBB3 ACTN4 IFT122 ADA2 SRC HDAC8 LIPN SDR9C7 RAB3GAP1 IL17RC NDUFB8 TCTN3 PEX16 CLCNKA ATP6V0A4 RNU4ATAC ZIC3 B3GLCT SALL1 CDKN1B F2 BBS5 PUF60 DHX37 MT-ND1 SLC26A4 TXNL4A HS6ST1 MSH2 MT-TE LAGE3 COQ2 ATP1A1 COX10 THBD F5 LRIG2 TRIM37 ALG9 FOXE1 FANCC SLC6A19 COG1 MAP3K7 TBX15 CFB MECP2 MFSD2A FANCD2 LARGE1 ADCY10 ADA PLCE1 CEP63 TWIST2 BAZ1B MT-TS2 PAFAH1B1 PCSK9 POMT2 SMOC1 COL4A5 ITGB3 ACTG1 CLPB CAVIN1 JAG1 FAH STAT1 IFNG TBX18 YWHAE GLIS2 HYLS1 AXIN1 TACR3 NDUFA6 AIRE SMC1A HMOX1 BTNL2 SPART DUSP6 KANK2 NDUFA1 PLD1 DLL3 BBS1 NDUFA11 CASR FLII JAM3 PNKP NSMF ARL6IP6 SERPINH1 HIC1 BAP1 PEX7 GABRD MARS1 SPINK5 IFIH1 SNRPB SETD2 RPS19 SCN1B FCGR2A SLC26A1 CTH FEZF1 NKX2-1 TTR STS FGF20 SOX17 GNAS DDX59 STAT5B MT-ND2 KLF11 COG7 APOA1 IL12A-AS1 FOXH1 PORCN STAT3 DLC1 TRNT1 CDK4 FKTN ITGA6 SOX11 KLRC4 TRIP13 EVC CRB2 TELO2 DNA2 SHANK3 SCO2 NDUFB11 SLC25A22 HSPA9 FLI1 LIPT2 TIMMDC1 NDUFAF8 GAS1 TMEM70 FASLG MT-CO3 FAM20C SDHA MCTP2 ARVCF KIAA0586 OPLAH TGIF1 FOXRED1 PTPN11 IQSEC2 SKI VPS33B MAPKBP1 NDUFAF4 CISD2 UBE2T BNC2 NPM1 PPARG STAG1 CCND2 RBM10 EFEMP2 PRODH MYH9 FREM2 PHEX RFC2 SDHAF1 OGG1 RAF1 FOXP1 SPINT2 BBS2 VAMP7 JMJD1C VANGL1 GRIA3 CACNA1S CENPJ PAX1 NFIA CLDN10 ATP6V1B1 EPG5 BMPER CDH11 SOX4 NR5A1 YY1AP1 NDUFAF2 ARID1A RNF139 AIP POLR3A MT-TW SPRY2 PPP1R15B TRPS1 SEC24C NEUROD2 ANKLE2 BMP4 SPRY4 PRMT7 COL7A1 ISL1 PGAP2 RSPO2 RIPPLY2 NDUFAF5 SMARCC2 SDHAF2 CD81 ZFPM2 SURF1 LHX1 CDON CHD4 ACE RRM2B APOB ACVRL1 INTS1 GDF3 IL17RD PEX26 NUP85 FIG4 MAGED2 ANLN CASK XPNPEP3 ZNF687 TAF13 NIPAL4 MLXIPL RBBP8 MT-ATP6 IKZF1 UBAC2 RARA AGT UBE2A SSR4 TCN2 MAP2K1 CHN1 DGKE SMARCA4 APOL1 FIP1L1 MOCS1 HLA-DPA1 SHPK TLR4 DVL3 RMND1 DMP1 MLH1 COPA ETFB FAM149B1 TBC1D8B GTF2I GDF2 MCC KCNE5 PYCR2 IL10 METTL5 SH2B1 TMEM260 AHI1 PRPS1 GLI1 COL5A1 ABCG5 FN1 ADAMTSL1 HPS1 PROK2 SERPINA1 ITPR3 CEP152 MYO1E LONP1 PHF21A CYP27A1 HNRNPU DLL4 RAD54B SIK1 TBL2 RYR1 FLNB CEL MME PTH1R ARHGDIA SEMA3A GP9 KCNJ5 LDHA SUFU SARS2 HYMAI PGAP3 SCNN1G MCFD2 ACTB COL3A1 HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT PDGFRB VPS11 CTBP1 CLCN4 HAAO KRAS FMR1 KCNAB2 GBA REEP2 ARID1B GPC3 STIL PINK1 SACS BRIP1 TBP WASHC5 MTFMT MYLK MED25 DYNC2LI1 SALL4 COLEC10 ARHGEF6 PAX6 HCCS SNCA PEX1 WDR35 CC2D2A HLA-DRB1 BPTF NCAPG2 NR4A2 ATP7A ELOVL1 GIGYF2 FGFR1 GJA1 ARX AKT1 SDHB ORC6 HLA-DQB1 OGT SIX1 CDK6 SETBP1 TFAP2A FGFR3 PLEC CHST14 RPGRIP1 GATAD2B PIEZO2 BCOR MAMLD1 REEP1 SLX4 PEX10 STUB1 GABRG2 SUFU ALDH18A1 KMT2D KIF5A TIMM50 RAD21 RSPO1 MNX1 CEP290 RPS6KA3 AQP2 ATRX FANCA ARSA WFS1 PEX12 DSE FANCI FA2H IGHMBP2 DDHD2 SOX9 EVC2 XRCC2 TMEM67 WNT4 FAM20A PHC1 SSR4 ATXN8OS NEXMIF TINF2 LTBP4 GTF2IRD1 UFD1 LETM1 SDHD FANCB NF2 ZFYVE26 HNRNPA2B1 WT1 HACE1 RAC1 COL18A1 PSAP FANCM SMO GPC4 ZMPSTE24 SNCAIP LRRK2 EP300 HPSE2 LFNG SLC5A2 PRDM8 VANGL1 KIF1A BAP1 SPG7 SIN3A CUL7 CLIP2 COMT POR WDPCP GABRA1 ACTG2 PEX11B DNMT1 SMAD4 SRD5A2 NCAPD3 GJC2 DCHS1 BICC1 HIRA DKC1 IQSEC2 DKK1 SRY PTDSS1 CPLX1 CREBBP TMEM94 NR5A1 STK11 WDR34 RPL35A ZNF41 CHRM3 RERE KIF14 GALC TERT NSD2 TRAPPC12 WNT3 MKS1 TTC8 FZD2 MAD2L2 SIX6 MED12 GRIP1 GATA4 SYP KCNC3 RIN2 DYNC2H1 PEX13 FUS SLC9A7 PBX1 CDKN1C KMT2A BDNF HUWE1 CYP17A1 NOTCH3 PIGN RPL10 ABL1 CILK1 NIPA1 TUBB CDC45 KCNQ1 FAT4 EIF4G1 TAPT1 AP5Z1 NBN KDM5B CTC1 RTN2 SMAD3 POLR3A HDAC8 PALB2 THOC6 HOXA13 CCL2 CCDC8 DHCR7 RTTN ATXN10 NAB2 SLC1A4 GBA2 CHMP2B PEX16 MKKS MCPH1 HES7 CDK5RAP2 ERLIN2 AVPR2 KIF7 ZIC3 B3GLCT SALL1 HCFC1 PRDM16 COX7B PLOD1 B4GALNT1 TBCK PIK3CA GREB1L ITGB4 DHX37 COLEC11 MYF6 ATPAF2 SPG11 SLC9A6 MAP3K1 MBTPS2 RREB1 SBF1 PAH SPAST ABCD1 TMEM216 PITX2 LRIG2 ALG12 GLI3 PEX19 PDCD1 LMOD1 COG1 MAP3K7 IFT57 WDR60 MARS2 RECQL4 SP110 FXN MFSD2A PSMD12 FANCD2 CNKSR2 ROBO2 CYP11A1 BIN1 POLG POLE MAB21L2 ASPM CEP63 POLG2 NAA10 BAZ1B CCBE1 VPS35 CAPN1 HS6ST2 CYP7B1 ATXN3 TRAF7 PIGO SCN9A FGFR2 APRT UBR1 TP63 GP1BB CACNA1G SLC12A3 FLNA SIGMAR1 MAP11 CPT1C TNXB RAD51 PTCHD1 ACSL4 NRIP1 JAG1 SLC16A2 PCNT ADAT3 LIG4 STAT1 EPG5 HYLS1 RAC2 HSPD1 CLCNKB ESCO2 LMOD3 NPHP3 RETREG1 SQSTM1 KLHL40 ALG13 TBX22 RLIM ALS2 RAD51C PUF60 PAK3 SMARCB1 DNAJC19 SPART VANGL2 AR PRNP CDC42 TBX1 PLD1 DLL3 DPH1 SETD5 FRMPD4 CCDC22 WNT5A PARN SLC20A2 ARL6IP6 HMBS DMD VCP GABRD NR0B1 TBCD DMRT3 CFAP43 COPB2 TBXT CSPP1 UPB1 FUZ ATXN1 KCNJ10 SMARCE1 NDUFB11 BUB1B HPRT1 CYP11B1 RPL11 HSD3B2 SETD2 TGFB1 GBE1 UBA1 ZNF81 SETX SMS NKX2-1 DNAJC13 LIMK1 STAR FANCL SOX17 AFF4 MAPRE2 COG7 DNM2 SIX5 ELN COL1A2 CEP55 ATR RRM2B WRAP53 RAB39B CHRNG MYRF FGFRL1 DBH MTM1 ITGA6 CEP135 KANSL1 KNL1 EVC PEX6 AGXT HLA-B MORC2 COQ2 IGF2 IL1RAPL1 SHANK3 DSTYK MTOR SRCAP HSPA9 FRAS1 UBAP1 TMEM70 C2CD3 SOX2 MCTP2 ARVCF MID2 KIAA0586 B9D1 EXT1 SMCHD1 HBA1 PTPN11 SKI CISD2 TSPAN7 CYB5A STAMBP UBE2T BNC2 FARS2 SMC1A LMNA MAPT EFEMP2 DARS2 PEX14 FREM2 RFC2 ERCC4 SDHAF1 CDH11 RAF1 CCNQ ARNT2 EYA1 DVL1 ATXN2 VAMP7 GMNN JMJD1C STAT6 BRCA2 NELFA DVL3 CENPJ CCND1 NSUN2 PAX2 TRRAP NFIA COL7A1 BRCA1 RYR1 ZEB2 EHMT1 HOXD13 TCTN2 ZNF711 SASS6 ALMS1 PNPLA6 MTMR14 FKBP14 FBXO7 KCNQ1OT1 PLP1 GDI1 BRAF STRA6 EFNB1 NSD1 CDC6 TRPS1 KCNJ18 PDE4D KCND3 SPECC1L SEC24C ATL1 ANKLE2 PEX3 BMP4 TMEM107 SLC2A1 HNF1B PRMT7 PEX2 SLC25A4 ISL1 FLT4 RIPPLY2 FANCE HNRNPA1 DLG3 TRPV4 ADH1C SLC25A13 NOP10 IFT80 PDGFB MYMK RFWD3 FTSJ1 UPF3B ZFPM2 WWOX HOGA1 MYH11 NIPBL SAMD9 HNF4A CHD4 KIFBP FBLN5 NEB CACNA1H PEX5 CXorf56 HSD17B3 AUH SEMA3E FANCF ADNP PEX26 PIK3R5 CHD7 MESP2 GPR101 FIG4 SMC3 B9D2 TTC37 FANCG PPP3CA PRKAR1A ASXL1 ACTA1 TAF13 MLXIPL RBBP8 AIP HTRA1 COL3A1 IKZF1 APC2 ORC1 PIGA ATP13A2 MECP2 UBE2A OBSL1 RTEL1 RPGRIP1L FGF10 CYP21A2 TYROBP CUL4B NOTCH2 PANK2 DACT1 TWNK DYSF TTR SDHA GTF2I MID1 KLHL41 CACNA1S WDR62 USP27X PYCR2 METTL5 PSPH COG5 NPM1 RNF168 SH2B1 INHBA ACER3 AGTR2 CDCA7 PQBP1 GLI1 HEXB RARB FOXC1 ORC4 KDM1A JRK ARCN1 GABRB3 C19orf12 EBF3 TERC CEP152 HNRNPU FANCC FBXL4 TRIO WNT7A TBL2 ERMARD CLMP LMNB1 FERMT1 VAC14 GATA3 NHP2 TMEM231 CDT1 UMOD FLVCR1 USB1 USP9X KDM6A CIT POLA1 GLUD2 HBA2 GABRA3 HP_ABNORMALITY_OF_THE_NASAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SKELETON BRAF USH1G PTCH1 SLC25A24 PDE4D TGIF1 SIX3 CTNNB1 PRKAR1A HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE TWIST1 KMT2D SMARCAL1 CTBP1 CAMTA1 CLCN4 NHEJ1 FRMD4A KRAS AMMECR1 KCNAB2 ARID1B PTEN REEP6 KIAA1549 LMBR1 TCF4 GPC3 EDA2R CLP1 CC2D2A FGFR2 RPL5 ATRX ADSL TMEM138 MED25 KCNH1 LTBP3 GJA1 HSPG2 ARHGEF6 KMT2A ADAMTS18 TGIF1 SHOC2 BANF1 RDH12 RNASEH2A COL11A2 NFIX EXT1 RUNX2 DGCR8 B9D1 MED12 FGFR1 HDAC6 ARX DYNC1I2 HRAS TBX1 SETBP1 RAI1 TFAP2A PTCH1 PIGQ XRCC4 CHRND RPGRIP1 ESS2 SLC7A14 INPP5E GATAD2B HDAC8 CKAP2L ESCO2 TCTN2 PEX12 INSR OCLN MITF AGBL5 WRN BCOR DVL1 INPPL1 SMARCB1 BRAF TREX1 AGA RAD21 BUB3 CEP290 CASK MBD5 GREB1L BEST1 RPS28 SLC26A2 FLCN RPS6KA3 ARL3 COL11A1 TRIP11 KDM1A KLHL7 DGCR6 BRF1 COG4 RAB18 TCTN1 PHGDH DOCK3 TAF1 TBC1D20 TMEM67 MPLKIP ABCC8 CCDC8 OFD1 NTNG1 SOX9 FGF8 SALL4 ZSWIM6 SUZ12 ARL13B ACTL6B WNT5A NEXMIF ALX4 CEP104 ARL6 UFD1 LETM1 TDGF1 CDHR1 KIAA0586 SH3PXD2B AP4B1 PIGY RAC1 FLNB CEP57 SMARCD1 CNGA1 DHDDS TRIO CHRNG GPC4 ZMPSTE24 TONSL PKHD1 C12orf57 EP300 LFNG SUMF1 ALG13 ARMC9 NEK2 ANKRD11 EXTL3 DEAF1 SIN3A MAK CUL7 PDE4D ALX3 BBS2 COMT WDPCP ACTG2 PIGP ERF EFTUD2 MAFB C8orf37 PCGF2 ATP6V0A2 DNMT3B HIRA ADAR BCR CEP41 TBCK IQSEC2 AKT1 IFIH1 RNF125 CERKL CRIPT CPLX1 CREBBP TMEM94 MN1 GNAO1 ATP6V1B2 FGFR3 ZNF41 COG6 RERE NALCN TBC1D24 TRPS1 FZD2 KCNK9 DDB2 GRIP1 FGD1 RPS17 PLK4 PPP2R1A SYP PACS1 PRPF4 NODAL GJA8 KCNA1 TUB MYH3 SMARCE1 TTC8 DGCR2 SLC9A7 KIAA1109 NAA10 HECW2 RPL35A PBX1 HUWE1 PIGN PIGT RPL10 PIBF1 RPL31 PLEC CILK1 RPL15 NOG ATR TRAIP MKS1 ARID2 SLC35C1 HGSNAT EIF2S3 ALX1 PEPD EYA1 PDHA1 KIAA0556 PRKAR1A TAPT1 NBN KDM5B ERCC4 DLL1 RPL27 ARHGEF18 IFT122 NR2F1 PMM2 RET RP1 COL2A1 POLR3A PEX16 THOC6 POU1F1 PDE6D ABCC9 SOX4 RNU4ATAC DHCR7 RAB3GAP1 ACSL4 MYO18B MGP SC5D STXBP1 CEP152 AIFM1 TCTN3 NF1 RECQL4 GPC6 MAPK8IP3 HES7 NUP188 ERCC5 GUCA1B PDE6G BRCA1 PGAP3 PIGL QRICH1 CPLANE1 RPS26 HCFC1 PRDM16 MEF2C ADAMTS3 EDA IDH3B PROP1 GMNN RPS29 CANT1 COLEC11 TXNL4A PEX13 MBTPS2 RREB1 LAS1L PDE6B PEX11B AP4M1 UBE3B TRAF6 BMP2 PAH TUBGCP4 NACC1 SCN2A TMEM216 RPS10 ACTB PEX1 SPATA7 TRMT10A NXN TBCE DONSON COG1 MAP3K7 MAN2B1 ADGRG6 MECP2 PPP2R3C KAT6B KCNJ2 RPGR CNKSR2 DISP1 GNPAT DVL3 PEX2 TWIST2 PAFAH1B1 CENPF ATIC DOCK7 PTH1R FBN1 SHH FREM1 PIGO EXOSC2 TLK2 TBX4 UBR1 EBP GP1BB ACTG1 PTCHD1 CERT1 CRLF1 PGAP2 KDF1 ATN1 SOX10 PCNT EYS COL3A1 SLC17A5 ADAT3 SRD5A3 TP63 RGR EDARADD WDR19 ALG3 CENPJ ERCC3 YWHAE PAX3 EXT2 SMC3 MAP2K2 APC MPDZ MUSK KIF15 PEX5 WDR26 ATRIP IRX5 CRKL FAM20C SEC23A ECEL1 INS AP4S1 HOXB1 PIGV SNAP29 TAF6 COL1A2 IFT43 FH GBA PUF60 DIS3L2 PAK3 CDC42 TBL1XR1 DLL3 CD96 ALG9 USH2A FLII RP2 RPGRIP1L SETD5 CHRNA1 FRMPD4 IFT172 PNKP PRPS1 KIF11 POGZ FLNA GLI3 TFAP2B FAM161A MGAT2 RPE65 PPP2CA EDNRB ALDH6A1 ASXL2 ATP6V1A CTCF RBBP8 HIC1 DHCR24 DHX37 PIGW DMD PHIP LRAT GABRD CDK10 SMARCA4 ATP6V1E1 MERTK ITGA8 OTX2 RPS19 AHI1 BPTF POMGNT1 BUB1B SLX4 NFIB MAB21L1 HYLS1 SETD2 SCN1B ANTXR1 KDM6A CRB1 ZNF81 PPM1D SMS CCDC47 TMEM231 FMR1 GJA5 MRAS KLHL15 EDAR WDR35 FGF20 KIFBP AFF4 PRPF6 FOXG1 KCNJ11 CCNK LIG4 SLC6A9 FOXH1 CEP55 MED13L PORCN SMC1A RAB39B KIF14 CLIC2 KMT2B FGFRL1 CDKL5 ZNF408 DYRK1A CHRNA7 XPC RHOA SOX11 KANSL1 AP4E1 PIEZO2 KIF1A ROR2 DNA2 IL1RAPL1 SNIP1 SHANK3 SLC25A22 SMARCA2 MMP2 SRCAP HSPA9 WDR4 MYMK ZC4H2 LRP2 FLI1 AGL DZIP1L SIX3 FRAS1 EDN3 GAS1 C2CD3 PQBP1 MEGF8 SKI MIR140 LMNA UNC80 MCTP2 ARVCF CRX MID2 MAPK1 GCK RPL11 SOX3 LRPPRC PTPN11 RBP3 CNGB1 HNRNPH2 ZNF513 B3GLCT IFT140 TSPAN7 KAT6A GNPTAB TBX2 RNASEH2B ASXL3 HNRNPK KPTN SOST TBC1D23 TMEM237 RBM10 FREM2 PEX19 DMXL2 CDH11 KIZ CCNQ MEIS2 ZNHIT3 FOXC1 PRPF8 FOXP1 ZBTB24 NSD2 PEX6 MYCN GLB1 JMJD1C TCF20 HESX1 TMEM70 RPS27 RPS7 CEP120 SLC25A46 ABCA4 GHR ASPH FGF3 AUTS2 SYT1 NRL PAX1 TRRAP NFIA KIF22 PROM1 NFKBIA PIK3R1 ATP7A PYCR1 CSPP1 ZEB2 IDUA EPG5 EHMT1 PHF8 IMPDH1 ZNF711 PRCD SIX2 ELN SLC25A24 ABCA5 TUBGCP6 RMRP ARID1A CSNK2A1 CA4 GDI1 LHX4 PIK3C2A RNASEH2C CPT2 PYCR2 EFNB1 NSD1 NR2E3 KCNJ6 ERCC2 EFEMP2 BUB1 PCARE SATB2 USP9X SOX5 HDAC4 NGLY1 SEC24C NEUROD2 NSUN2 TMEM107 FTO DOCK6 PRMT7 CLRN1 AHR SMARCC2 RIPPLY2 IGF1R PPP1CB PTPRF RPS24 GATA1 STAG2 TSPEAR COL1A1 SPRTN FTSJ1 PSAT1 UPF3B PARS2 SMG9 RAB3GAP2 CLCF1 CDON NIPBL TOPORS RPL26 GNS SCAPER NPHP1 ARL2BP CXorf56 INTS1 SCARF2 ZNF148 ECE1 PEX10 LONP1 SAMHD1 SNX14 TRIP13 MESP2 RIPK4 PRPF3 FAM149B1 FIG4 ZIC2 ALDH18A1 AIMP2 TTC37 CTNNB1 DLX4 YY1 GPAA1 SLC2A10 MLXIPL KIAA0753 RUSC2 IGF1 GABBR2 APC2 PIGA UBE2A OBSL1 MAP2K1 CHN1 WAC ABCA12 PEX26 RBMX TRIM8 ASXL1 SAG IER3IP1 RARB ADAMTSL2 PLOD3 RIC1 ZNF423 DPF2 CENPE ADNP CUL4B NOTCH2 NRAS SMOC1 RPS15A PEX14 MID1 XPA LMX1B BMPER IFT52 PAM16 LRP4 DHX38 IDH3A USP27X PPP1R15B KCNN3 KCNE5 B9D2 RHO RPL18 RP9 PTF1A KIF7 TBX6 DNMT3A RLBP1 TSR2 AGTR2 VPS13B GLI2 KCNJ8 FOXA2 ORC4 EBF3 SCYL2 XYLT1 SIM1 PDX1 ADA2 DPYD PHF21A MARS2 DLG3 FBXL4 PRPH2 ROM1 SIK1 POLD1 RNF135 RPL35 RBM8A SEMA4A PEX3 RDH11 TUBGCP2 TULP1 SNRNP200 IFT88 VAC14 KCTD1 FSCN2 CWC27 IMPG2 SUFU PRPF31 SPATA5 PDE6A WDR73 CIT HP_ABNORMALITY_OF_THE_NASAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_BONE BRAF USH1G SLC25A24 PDE4D CTNNB1 PRKAR1A HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY GNB1 PIGY DHCR7 RAB3GAP1 SMARCC2 G6PC3 KCNAB2 CHST14 SOX17 B4GAT1 ARID1B IFT80 PEX16 MYMK SOX9 MAP3K7 COG7 GPC3 SETBP1 SMARCD1 SIX5 CTLA4 SRCAP TFAP2A PIGL POLE RAB3GAP2 ATRX PORCN ZIC3 MED25 B3GLCT PRDM16 SALL4 CTNNB1 CHD7 TBX1 PEX1 WDR35 GREB1L ITGB4 ITGA6 PEX5 NSDHL SOX11 KANSL1 NCAPG2 PEX6 SEMA3E LRIG2 PEX26 ROR2 WASHC5 SHH MKKS SHANK3 PEX19 PLEC KAT6A NXN XDH PIEZO2 PPP3CA RERE YY1 COG1 PEX10 FLI1 TBX15 GPC4 KRAS KIAA0753 WDR60 SMARCB1 RECQL4 DVL1 KMT2D FAM20C BRAF FANCB PIGN MBTPS2 WFS1 PEX12 MASP1 DSE FGFR1 BRF1 SKI FLNA RAB23 RAB18 GEMIN4 MAP2K1 FOXF1 NAA10 TBC1D20 UBR1 CENPF CCBE1 SMARCA4 OFD1 BCOR CRTAP HLA-DPB1 HLA-DPA1 BNC2 WNT5A EBP KCTD1 LTBP4 ACTG1 DVL3 PIGV DPF2 RBM10 PEX14 NRIP1 ATN1 PEX11B LIG4 NDUFAF3 TBX18 FGFR2 ARNT2 HPSE2 MAP2K2 EYA1 HYLS1 RNU4ATAC SIX1 GRIA3 PIGO CDC42 KAT6B TBCK SPART PTPN22 NSUN2 TRRAP RAD51C NFIA PLD1 WDR34 TBC1D24 ATP7A PRTN3 HOXD13 CCDC22 SOX4 GLI3 APC ARID1A SLC6A17 DYNC2H1 PIGW ARL3 PEX13 SMARCE1 POLR3A CPT2 STRA6 GABRD GATA3 USP9X ACTG2 CHRM3 ARID2 NBN PEX3 CDKN1C IARS1 SPINK5 TP63 TAPT1 KDM6A ERBB3 PGAP3 PEX2 ACTB PGAP2 HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM UQCRFS1 PIGY HOXD13 CCDC22 PACS1 HSPG2 FOXF1 NRAS WNT3 PIGO MKS1 PIGL SCARF2 GATA6 FANCB TAPT1 PIGW MCTP2 PGAP3 WASHC5 POR PGAP2 PIGV HP_DILATATION_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_BLADDER TP63 AVPR2 ACTG2 NKX2-1 MYH11 AQP2 LMOD1 MYLK LMNB1 HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION PEX2 PEX14 PHYH PEX5 PEX10 PEX1 PEX13 PEX7 PEX26 CPT2 ABCD1 PEX3 PEX16 PEX12 PEX6 PEX19 PEX11B HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION TANGO2 MT-TE ACAD8 ACADL DLD NADK2 TRMU ACAD9 SLC52A1 ACADVL HADH CPT2 SLC25A20 ACADM CTNS HMGCL SLC22A5 HP_ANEMIA_OF_INADEQUATE_PRODUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIA_OF_INADEQUATE_PRODUCTION FANCE KCNE1 LPIN2 FANCM ATRX ERCC4 RPS15A RPS24 SLC46A1 C15orf41 GATA1 WIPF1 RPS28 MTR FANCL YARS2 LMBRD1 HBB RFWD3 GDF2 WAS CASP10 APC RPL5 CLCNKB BRIP1 IRX5 KCNQ1 TET2 RPS26 RPS14 SLC29A3 RPL18 SEC23B UQCRFS1 ALAS2 HBG1 KCNN4 TRNT1 HBD MTRR RPS27 RPS7 COX4I2 CLPX RPL26 HYOU1 RPS29 PHGDH SMAD4 RPS17 ACVRL1 CBLIF UMPS TSR2 RAD51C BRCA2 TKFC IREB2 PLA2G4A SRD5A3 DNAJC19 FANCF KLF1 FTCD ELMO2 STK11 RPS10 RPL35A BRCA1 TCN2 TMPRSS6 HBA1 SAMD9L ADA2 HSPA9 FANCG FECH RMRP MYD88 TF CAT MT-TW SFXN4 MAD2L2 SLX4 FANCC DHFR CUBN SMPD1 FOXP3 LCAT LARS2 SLC19A2 FANCI PRDX1 RPL35 DAXX AGGF1 RPL15 LARS1 FANCD2 TPI1 FASLG SF3B1 MMACHC HK1 BPGM HBA2 PSMB8 FANCA PIEZO1 WFS1 MTHFD1 PUS1 RPL11 RPL31 CDAN1 HPRT1 ABCD3 TEK XRCC2 RPS19 ISCU FAS ENG CD55 UBE2T SLC4A1 PNPO SHPK MMADHC RPL27 DNM1L SLC25A21 EFL1 PALB2 SLC12A3 MVK ALDOA FANCB PIGA ABCB7 OPA1 RAD51 FDX2 HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY CYBA SMARCAL1 RNU4ATAC CBL GLB1 CAPN3 ATRX MPLKIP RAG1 SLC46A1 PSEN1 G6PC3 BLNK MYH7 RPS28 PIK3R1 FKTN MVK ANKRD1 NOP10 CD79A STAT5B RAF1 MYBPC3 OSTM1 LAMTOR2 CASP10 TAZ CTLA4 GSS TNNI3 PDGFRA TERT RUNX1 PCCB TCAP ASAH1 IGHM ETV6 TDP2 ELANE COG4 RAG2 GTF2H5 WRAP53 PML SLC29A3 STAT3 TXNRD2 FUT8 ADAM17 KIT MTRR DOLK PRF1 DMD SLC27A4 HYOU1 LRBA MAD2L2 CD40LG HAX1 SMARCD2 GATAD1 LBR CEBPE HLA-B VCL DOCK8 SMPD1 BCOR PRDM16 SLC7A7 GTF2E2 FHL2 TCN2 RNF113A ICOS NRAS HTRA2 IRF2BP2 CYBC1 FANCC ZNF341 RFXAP ACTN2 MSN TNNC1 LIG4 CARD9 TRAC NPC2 MYD88 GINS1 MT-TW TET2 ZBTB16 IL7R MYSM1 PCCA HELLS IKBKG RPS7 OTULIN FASLG HAVCR2 STX11 AGA AP3D1 IKZF1 LIPA PDGFRB FAS DES CD40 MMACHC APOE NUMA1 ZAP70 LAMA4 RARA MYH9 TFRC GFI1 SPINK5 FANCI TMPO NCF4 UBE2A TNNT2 LYST ADA TFR2 DNMT3B BCL11B EXTL3 RTEL1 SGCG FIBP TLR3 ABHD5 AK2 TRAF3 FIP1L1 ASXL1 SAMD9L CXCR4 PNP SDHA HLA-DPB1 WAS UNC13D HLA-DPA1 SRP54 LRRC8A PPCS TINF2 CSF3R PLN DCLRE1C VPS45 NPM1 CARD11 USB1 CLPB TPM1 EFL1 SBDS CD247 FMO3 NPC1 IRAK4 RAC2 RFXANK FOXP3 SEC61A1 MMUT FANCD2 TICAM1 CD3D MYPN FANCE HAND2 BAG3 WIPF1 MMAA LMBRD1 PRKAR1A TONSL STAT1 NCF2 JAGN1 MECOM CD3E MMAB CRYAB XIAP NEBL PSEN2 SLC35A1 NCF1 TAF1A NABP1 NLRP1 RBM20 GATA2 IFNGR1 RASGRP1 IFNG CIITA SLC37A4 SCN5A RMRP CDCA7 SRSF2 STXBP2 ERCC3 DNAJC21 RAB27A CYP26C1 RPS17 RFX5 NEU1 CAP2 PACS2 ACTC1 VPS13B ZBTB24 BTNL2 TBL1XR1 PTPN22 NSUN2 PGM3 FTCD ERCC2 STK4 ITCH CD79B CHD7 BCR HBB IGLL1 TERC ABCD4 PRTN3 UNC93B1 CYBB LDB3 TCIRG1 TBK1 WDR1 TARS1 FANCG IL2RG SGCD CSRP3 FBXL4 PARN RPL18 NLRP3 GPI PRDX1 RBM8A ABCC9 SF3B1 DDX41 IL6ST RECQL4 TCF3 FANCA NHP2 HLA-DRB1 SLC35C1 RPS14 CD27 EIF2AK3 BTK DSG2 TTN ABL1 GATA1 RPL11 CTC1 MYH6 PRKCD PMM2 RPS19 DKC1 RPL26 NEXN AP3B1 FDX2 KRAS HP_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_LYMPHOCYTOPENIA RAG2 DOCK8 IKZF1 JAK3 NHEJ1 RAG1 TCF3 MYSM1 NBN NFKB2 ADA DCLRE1C GFI1 IGHM STAT1 ICOS HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY BAP1 IL2RA SMARCAL1 CTBP1 PRSS1 TCIRG1 NHEJ1 MTAP RAG1 DSG1 ELP1 IL17F MVK SPINK1 XPA FGFR3 RNASEH2C ABCB1 CD19 DNAH1 AICDA EYA4 CASP10 MOGS FLI1 GPR35 MYLK RAG2 PKP1 STAT3 NSD1 PTGER2 GNA11 TERT RSPH3 LAT CCR1 TYK2 PIEZO1 CCR6 TTC7A BPTF NUP133 HAX1 AXIN1 ERCC3 GBA ICOS XRCC4 KIT ESS2 BSCL2 GNAS BCOR LMNB2 BCL2 SLX4 MECP2 CST6 LACC1 INSR GLB1 CSF2RB SELENON KMT2D ACADVL TREX1 NSMCE3 CCDC65 HGSNAT SERAC1 NFIX BUB3 FCGR2A ABCA12 FOXC2 CFTR LYST FLG KRT10 DOCK2 ORAI1 TEK ITCH MMP1 IGHM FGF8 WAS CFB TNNI3 IRF7 MAGEL2 CLPB UFD1 LETM1 TDGF1 SNORD115-1 SH3PXD2B RFXANK RAC1 TBCE TGM1 DNMT1 SEC61A1 C2 LPIN2 TAP1 CD3D IRF5 FOXJ1 PIK3R1 PRDM12 FLT4 WIPF1 PCCA RPGR LMBRD1 GANAB KRT8 TRAF3IP2 ATP7B EP300 LFNG CARD14 DNAL1 VANGL1 ALG13 CAPN5 ANKRD11 EXTL3 DEAF1 SIN3A PDE4D COL4A3 INAVA HLA-DRB1 STAT1 IL23R CFH FOXP1 ITGA3 ATP6V0A2 DNMT3B LEP BTD ADAR BCR GJC2 IFIH1 CRIPT CCDC40 NEK10 CFHR1 CREBBP ERCC2 POLG DNAI2 PLG PKD1 UGP2 HPGD DNAJC21 SLC25A1 IGLL1 IRAK1 UNC93B1 MT-ND6 AKT1 NSD2 LEPR TP53 HMGCL MAD2L2 CHAMP1 FOXP3 RTEL1 APC IL12RB1 NODAL CTSC SMARCE1 DGCR2 ALPL SLC18A3 NKX2-1 CAV1 NAA10 RYR1 USP7 PTEN PIGN AK2 RPL10 COL5A2 MAGT1 BLM FGA NIPAL4 TCF4 CCDC114 CLDN1 ADA KIAA0556 PRKAR1A GRHL3 BCL11B MMUT NLRP3 ERCC4 DLL1 L2HGDH FLVCR1 C3 PRKCD PALB2 PAH ASAH1 SDHD NLRP12 HNRNPA2B1 XPC COL13A1 WNT4 RTTN MCIDAS CHD1 MANBA SMARCD1 HES7 TGFB3 POLA1 MT-TF IFNGR1 ALMS1 C1QA GUSB CCDC28B COG7 C4A CD79B APOE SPATA5 CYP4F22 PTPN22 AP2S1 EDA PLOD1 SLC7A9 HLCS CD247 TBCK GMNN HYOU1 ITGB4 COL11A2 OFD1 TNFRSF11A UROS COG4 RREB1 HOXA13 TRAF6 LBR MUC7 CFAP298 SMPD1 GTF2H5 ALG12 TCN2 MEN1 TONSL NXN RSPH9 LMOD1 GALNS ZBTB16 CTPS1 ANTXR2 NAGLU HELLS MAN2B1 RASGRP1 FLT1 SMARCB1 SP110 RSPH1 CCDC39 ARMC4 HLA-B FAS MBTPS2 DISP1 PRG4 ERCC5 MS4A1 MTHFD1 LIFR DNAI1 ANKRD55 ADAT3 KYNU TCF3 PIK3CA CCBE1 TRAF3 BCKDHA ASXL1 CDC73 SAMD9L ATP7A TBX4 EBP KCTD1 GP1BB REV3L POLH TGFB1 SBDS SLC12A3 GFI1 TNXB RAD51 EMP2 KDF1 ATN1 COL4A4 PCNT PSMB9 LIG4 NFKB1 ERCC6 TET2 EPG5 SLC25A22 XIAP CLCNKB WDR26 IRF3 BRAF CRKL MIF GRHL2 STAT4 GJB2 STXBP2 DISC1 DKC1 ADAMTS3 TICAM1 ACTB RAD51C CDH23 SCN9A LMNA SH2D1A HBA2 CDC42 SLC3A1 TBX1 SLC25A15 POLE LRRC6 PLA2G7 IL12A SETD5 IL7R MYL2 TRAIP CCDC22 TKT IL2RG ALOX12B KIF11 DDOST SGCG CNTNAP2 PARN ZNF750 UBB PIK3CD KDSR TTC25 CARD11 FASLG HNF1A TBC1D24 CCND1 CDK10 GALT WDR19 NRTN HBB RNASEH2A TGM5 CBS PSAP TGFBR1 CLCN7 SCNN1G IARS2 TP63 CUL4B BUB1B COL1A1 RPL11 TNFSF15 MAB21L1 MCCC2 FLNA CCN2 FAT4 KDM6A CFHR3 EFL1 ARHGEF1 LIMK1 MAGI2 CD79A AFF4 LYZ FGFR2 NOTCH3 ARL6 CYSLTR2 ELN CTSK NADK2 DPM2 MESP2 ELANE PRSS2 ADA2 FGFRL1 HSD3B2 DNAH9 WDR4 BTK ABCB4 UMOD RSPH4A KANSL1 SMARCD2 SLC5A7 PHGDH SHOC2 TNFSF11 PSTPIP1 ROR2 NCF4 TNFRSF13B MT-TQ KRT18 CACNA1C GJA1 CYBC1 MTOR IRF8 SRCAP GNAQ MYD88 KRT16 B2M MYSM1 CTCF TOP3A C9 SIX3 SCNN1A IL21R MALT1 COL6A3 HAVCR2 CORIN NOD2 NUMA1 C1R COL2A1 NDN MAPK1 SPINK5 LAMA2 EXT1 HLA-G INPPL1 UNG DNAAF6 NTRK1 SCN10A FOS TNFAIP3 SPP1 VEGFC SEMA3D CXCR4 PLEC HLA-DPB1 PPARG RFXAP CSF3R ANK1 ADAMTS2 CCDC103 MT-TH HGD PCCB MYO9A PRF1 SLC6A5 FCGR2B ACTA1 CTSB SRP54 ZNHIT3 ZBTB24 DNASE1L3 NABP1 NLRP1 PNPLA1 HPSE2 ALG1 C1S FUCA1 SKIV2L G6PC CFI FERMT3 TG ENPP1 MGME1 C1QC UMPS FGF3 BRCA2 LAMC2 STXBP1 ESR1 NELFA NECTIN1 CD151 MT-CO1 CTRC TBL1XR1 GJB4 NSUN2 GJB3 DDR2 C8A CD3E BRCA1 PRTN3 IL2RB WDR35 CISD2 ZEB2 CYBB IDUA SMARCAD1 SLC35A1 GAA FECH TARS1 PLVAP SULT2B1 SLC25A24 STX16 NUP107 PLP1 A2ML1 CFAP410 FCN3 IL17RA MMEL1 BUB1 PSMB4 CIITA ABCC6 MT-CO2 DNAAF5 STOX1 RAB27A LCK USP9X HDAC4 CCDC151 SPAG1 DNAAF1 SON COL7A1 TECPR2 CBL SDHB ARID1A SPTB SLC46A1 PGM1 G6PC3 KAT6B NOP10 KRT1 CTNNB1 SLC39A4 RIPK1 SETD2 MYH11 SAMD9 DBT CPA1 GLI3 PML SLC29A3 SERPING1 GP1BA DDB2 ADAM17 HSPG2 FBLN5 DCTN4 FRAS1 SEMA3E FANCF CHD7 GPR101 DOCK8 FERMT1 ATOH7 RAB3GAP2 NRAS ZIC2 SH3KBP1 BCL6 SPEF2 MCM4 FANCG TRAC NIPBL YY1 AIP TAZ FANCI TNFRSF1A APC2 PIGA ACP5 ZAP70 TPRKB MORC2 PNPLA2 CCT5 CARMIL2 AP1S3 PAX6 FOXE3 TAPBP SNX10 HACD1 TNPO3 TXNRD2 ALOXE3 PKD2 HERC2 IER3IP1 TSC2 THOC6 RIC1 TRIP4 FMO3 DPF2 SAMHD1 ARHGAP29 VPS33A NOTCH2 DRC1 SF3B1 KLLN ENG PLXND1 GAS2L2 LMX1B EDNRB PAX4 PIGT IKZF1 MC2R DHCR7 CCL11 FOXN1 RBP4 TK2 CTLA4 PSPH RNF168 MBL2 POU2AF1 EHMT1 COX4I2 MUC5B C1GALT1C1 DNAH5 FCGR3A SLC25A13 NNT TKFC VIPAS39 GLI2 CRLF1 WDR73 PCYT1A MPDU1 TAP2 KRT5 PACS1 SRSF2 TP53RK IL12B GOT2 SPTLC2 RET FBXL4 TRIO PEPD DNAAF2 DNASE1 TGDS CD70 ZEB1 GLRA1 ITGB2 MSX1 USF3 TNFSF12 STUB1 CDSN SDHA HLA-DQB1 NHP2 SLC35A2 NBN NDE1 C1QB CASP8 HNMT SIK1 CLEC7A KPTN BCHE GATA1 TRIP11 IFNAR2 USP8 PGM3 FGFR1 AP3B1 PAPSS2 SOX18 CASR ATRX IFT172 BLNK BACH2 SGSH ARID1B GPC3 MEFV BRIP1 GATA6 SFTPC TPI1 MED25 TTC37 ATM LTBP3 MT-ND4 C6 IL6 GAS8 DGCR8 SRD5A3 GRHPR COLQ RUNX1 ORC6 DCLRE1C TMC6 SLC7A7 RNF113A SETBP1 IRF2BP2 RAI1 SLC37A4 TF PTCH1 CHST14 XDH GINS1 CLDN16 CERS3 CD3G AGA IL10RB RAD21 TBX19 MNX1 CD40 EXOSC9 SLC39A8 PSMB8 FANCA DGCR6 MST1 DSE ARSB TPP2 GJB6 F5 TAF1 XRCC2 MPLKIP TRAPPC11 DNAAF4 OCRL UNC13D AGPAT2 TINF2 SCNN1B PMM2 GTF2IRD1 COG8 FANCB GPIHBP1 CEP57 FANCM AGRN CORO1A JAGN1 NCF1 SNRPN GALC GATA2 CLIP2 COG6 COMT IFNG PEX5 RMRP PRKACA GLIS3 PLEKHM1 ERF DCDC2 ERAP1 PCGF2 CFHR5 HIRA TGFBR2 TNFRSF4 RNF125 NCSTN SRY KLHDC8B CPLX1 WFS1 CFD COL6A1 SEC23B CHRM3 CD8A STX1A GSN DNAJB13 EDARADD CAT BCS1L GLRB SLC4A1 TALDO1 SEMA3C MYH3 ARL3 ELOVL4 NR2F2 PWRN1 KMT2A CR2 CCNO ACTG2 IGKC ARID2 SLC35C1 CAVIN1 TIMM8A NFKB2 TPM3 LRRC56 DLX4 MS4A2 CTC1 ANO5 CDKN2B SMAD3 MT-TL1 POLR3A HDAC8 LIPN SDR9C7 CRELD1 OSTM1 RNU4ATAC BCKDHB GLUL MGP IL17RC SLC1A4 NGLY1 ALB SMN1 SLCO2A1 CFAP221 LAMA3 CDKN1B ERCC1 STK36 C4B WASF1 SDHC MT-ND1 CD40LG NME8 UBE3B LAGE3 NAXD HLA-C CEBPE EDN3 RAB7A BTNL2 LRIG2 ZFAT IL21 BCL10 PRKDC TNFRSF13C COG1 MAP3K7 IKBKG POMP LAMTOR2 NHLRC2 FANCD2 IKBKB PTPRC PLCG2 BAZ1B CYP7B1 MT-TS2 DNAH11 APRT TLK2 COL4A5 CDKN1A DLG1 IRAK4 TBK1 SFTPA2 HYAL1 PSEN1 SCN4A ATAD1 WDR34 KIF15 GNPTAB UROC1 NPHS1 PTPN2 ZMYND10 COL6A2 AIRE CDCA7 RETREG1 PRPS1 NDUFS3 FMR1 RFX5 HYDIN RELB PLCD1 NOS1 DLL3 ALOX5 FOXD3 CD28 FLII RANBP2 WDR1 PSENEN POR SNORD116-1 CIDEC IL10RA BBS1 TRPS1 ECE1 CHAT SPTA1 ATL1 DDX41 MASP2 IL6ST IRGM TBCD CFP CSPP1 ITK KIF20A CD27 CLDN19 RHOH C7 PDGFRL IRF6 IL7 CCDC47 TNF BIRC3 EDAR GPHN FANCL EPB42 IL36RN STAT5B SUOX MYO5A SCGB3A2 APOA1 IL12A-AS1 SLC6A19 FOXH1 MLX PWAR1 CD81 PNP WRAP53 KRT14 TRNT1 CLCA4 NGF DYRK1A ITGA6 LRBA SOX11 TNNT2 AEBP1 KLRC4 KIF1A ACVRL1 AGXT KRT9 ATP8B1 MPV17 FADD SHANK3 TBX21 SMARCA2 CACNA1G MMP2 MRAP HSPA9 HSD3B7 TLR3 GPC4 OTULIN HLA-DQA1 GAS1 TMEM70 MT-CO3 CYP7A1 KIAA0319L AP3D1 ARVCF KIAA0586 TFRC OPLAH TGIF1 TRPM1 IQSEC2 SLC9A3 LAMB3 VPS33B ATL3 TBX2 RNASEH2B UBE2T BNC2 SCN11A MAF F13A1 VPS45 NPM1 SMC1A USB1 SLC2A1 GDNF C5 CDKN2C TBC1D23 EFEMP2 STAR MYH9 SPIB RFC2 PSMD12 NLRC4 SNAP25 TSC1 NCF2 MEIS2 STIM1 CSTA MSMO1 GORAB CIB1 JMJD1C GRIA3 GATA4 ARPC1B OSGEP MED13L AUTS2 EPM2A NEK9 JAK3 MYPN H6PD IDS MT-ND5 ECM1 STK4 NFKBIA ACD IFNGR2 SOX4 IL13 CSNK2A1 TCTN3 CDH1 SLC52A3 JAK2 ALDH3A2 RUNX2 SEC24C SYT2 LAMB2 PRMT7 XYLT1 DNAAF3 FLNC TNFRSF1B ISL1 SMARCC2 EOMES RIPPLY2 FANCE CYBA CAPN3 VAMP1 MET KRT17 RFWD3 PDGFRA LHCGR SHROOM4 IGF2R TGFB2 UNC119 CDON C8B LRRC8A SCARB2 IGSF3 GNS NFE2L2 IL4R CDH3 ADNP NPAP1 TRIP13 P4HTM SLC26A2 CFAP300 SMC3 GTF2E2 AGL ZNF341 XPNPEP3 MSN CARD9 NRXN1 MLXIPL COL3A1 UBAC2 RARA TPM2 UBE2A EGFR TMC8 APOC2 SLC2A10 DGKE NSMCE2 ATP6AP1 CSF2RA SMARCA4 NDP KCNJ6 FIP1L1 ITGA7 HLA-DPA1 SHPK TLR4 HLA-A CNBP HPS6 FAM111B RAC2 COPA BICC1 PANK2 RBCK1 GTF2I ADRB2 IL10 ISG15 ST14 SHH NHLRC1 TBX6 VPS13A COL5A1 TTC12 MT-TW MKRN3 SDCCAG8 CLTCL1 TERC HPS1 WASHC5 SERPINA1 LPL ITPR3 STING1 FANCC TBL2 SIK3 CACNA1B NR3C1 HBA1 RBM8A BMP4 MME SETX IL1RN MYC GATA3 GP9 AP1B1 RPS14 SUFU CD55 ZMPSTE24 TBXAS1 MAP3K20 AMACR F13B SLC30A2 CD96 KRAS HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION LPL ABCA2 LDLR ANGPTL3 TMEM199 LMNA SLC25A13 ABCA1 NGLY1 SAR1B LCAT EMD FHL1 SMPD1 CYP7A1 ABCG8 PPARG CEP19 ALMS1 TMEM43 CCT5 APOA5 MSMO1 APOE LDLRAP1 APOC3 SYNE2 APOA1 PANK2 SLC7A7 PCSK9 UBR1 APOB TTPA CETP MTTP ABCG5 LIPC GPIHBP1 CCDC115 SYNE1 HP_HYPERLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPOPROTEINEMIA LPL SLC7A7 PCSK9 ABCA2 LDLR UBR1 LDLRAP1 APOC3 APOB TMEM199 TTPA EMD CETP APOA5 FHL1 LMNA SMPD1 CYP7A1 ABCG8 LCAT CEP19 TMEM43 ABCG5 SLC25A13 LIPC APOE SYNE2 GPIHBP1 CCDC115 SYNE1 HP_HYPOLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPOPROTEINEMIA APOA1 PANK2 SLC7A7 ANGPTL3 APOC3 LMNA SLC25A13 ABCA1 NGLY1 SAR1B LCAT APOA5 MTTP SMPD1 PPARG APOB CEP19 ALMS1 CCT5 MSMO1 APOE HP_POLYGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYGENIC_INHERITANCE CFH PPARG BCR STOX1 TP53 NR0B2 TAL2 APOL1 AGRP NBN ADRB2 NUP214 SHANK3 NLRP1 ABCG8 CST3 SERPINH1 A2ML1 POMC BMP4 ENPP1 ADRB3 SDC3 GHRL BAX CARTPT GNB1 TAL1 FLT3 IRF6 UCP3 HP_DIGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIGENIC_INHERITANCE DYNC2H1 GDF3 GJB2 GJB3 GDF6 GJB6 SMCHD1 NEK1 HP_GONOSOMAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONOSOMAL_INHERITANCE NLGN4X SLC6A8 THOC2 CHRDL1 PHF6 PTCHD1 LRAT KLHL15 HSFY1 DLG3 CACNA1F DDX3Y PHKA2 STAG2 ARX FHL1 TBL1Y ATP11C CLCN5 AMMECR1 OCRL TBX22 POLA1 MED12 OTC MBTPS2 SMPX PDE6G BPY2 NLGN3 PORCN AMER1 STS ZIC3 SMC1A SHOX CASK COX7B GPR101 EDA DAZ2 PLS3 FTSJ1 BTK CDKL5 BGN OPN1MW NSDHL ROM1 FLNA IGSF1 SLC9A6 DMD CSF2RA TSR2 FMR1 GATA1 CD40LG USP9X IKBKG UBE2A RPGR LAGE3 NDUFB11 HSD17B10 DCX PHKA1 NR0B1 CLRN1 VMA21 ABCD1 BCORL1 PHF8 IGF2 OGT MAGED2 PGK1 SH3KBP1 KDM5C GJB2 MSN NKAP HDAC8 BCOR MAMLD1 ZC4H2 FGF16 KDM5D MECP2 DIAPH2 TAZ GPR143 CNKSR2 AVPR2 F9 OFD1 FANCB PIGA AIPL1 ATRX AIFM1 AMELX PLP1 PRY GLA HCFC1 BRWD3 EBP LAMP2 UPF3B AR XIAP CDY2A HNRNPH2 RBP3 WDR45 ARR3 TAF1 ATP6AP1 NDUFS4 CDY1 SRY IL2RG GPR179 GJB1 HS6ST2 GK RBMX CHM TRAPPC2 IL1RAPL1 SSR4 NEXMIF L1CAM COL4A5 BCAP31 RPS6KA3 COL4A6 GJB6 PRPS1 UBQLN2 SHROOM4 ACSL4 RBM10 RPL10 CUL4B FOXP3 PHEX ATP2B3 RPS4Y2 CRX CLCN4 TBC1D8B GPC4 NYX C8orf37 NONO MID2 RS1 MID1 ZNF711 CCNQ LAS1L WAS KIF4A ALG13 FRMPD4 ANOS1 RNF113A OPHN1 POF1B ATP7A GRIA3 NHS NDUFA1 EMD XK IGBP1 USP9Y GDI1 ABCA4 ALAS2 BMP15 PDK3 SLC9A7 F8 VCY TMLHE CRB1 XKRY RLIM DKC1 DAZ1 USP27X PQBP1 SMS SH2D1A NAA10 IDS OPN1LW NDP DAZ3 RBMY1A1 CXorf56 SYN1 TIMM8A RAB39B SOX3 PCDH19 G6PD CYBB ARSL FGD1 KDM6A ARHGEF9 PAK3 TSPAN7 ATP6AP2 HCCS HDAC6 ADGRG2 CFP SYP HUWE1 MAGT1 EFNB1 FRMD7 IQSEC2 DDX3X HPRT1 CNGA1 SLC35A2 HMGB3 CCDC22 POU3F4 EIF2S3 MAOA ZDHHC9 PDHA1 AFF2 PRY2 ARL6 GPRASP2 UBA1 GPC3 TEX11 CLIC2 AP1S2 MTM1 ABCB7 RP2 SLC16A2 DNAAF6 HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY DPM1 VKORC1 SRD5A3 SERPINC1 DPM2 PMM2 PGM1 DPAGT1 GGCX MGAT2 AHCY MPI F7 ALG6 HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY DPM1 ATP6V1E1 F8 PTPN11 LMAN1 SERPINC1 ATP6V0A2 ATP6V1A F11 PGM1 DPAGT1 F9 GGCX MGAT2 AHCY MPI NGLY1 MCFD2 MAP2K1 VKORC1 SRD5A3 BRAF VWF DPM2 PMM2 F12 ALG6 HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY PTPN11 LMAN1 PRF1 SPTB ZBTB16 F10 GGCX EPB42 AHCY FGB SERPINC1 NGLY1 STAT5B MCFD2 PRKAR1A MAP2K1 HAVCR2 SLC4A1 STX11 SPTA1 HELLPAR XIAP ANO6 NUMA1 NABP1 RARA PML F13A1 GNA14 SLC7A7 STAT3 CFH FIP1L1 CD46 PLG FGG F13B VKORC1 UNC13D TBL1XR1 FGA BRAF NPM1 ANK1 F5 BCOR CFI IRF2BP2 HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE PORCN MTOR LZTR1 PTPN11 MASP1 MRAS HNRNPA1 FLNB RAF1 SLC25A24 GPC4 CHST14 COL1A1 MANBA KCNQ1OT1 CHRNG A2ML1 RMRP GPC3 PPP2R3C RRAS2 DIS3L2 SKI BRAF RASA2 GNPTAB NRAS CDKN1C B3GLCT ACTG2 COL5A2 COLEC10 RIT1 CHRM3 TBCK FBN1 SPECC1L CANT1 COLEC11 KCNQ1 CBL RRAS ATP7A IGF2 KRAS COL5A1 SHPK ELMO2 MCOLN1 SOS2 SOS1 COL3A1 EZH2 MYH3 XYLT1 CD96 HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX PDGFRB VPS11 CTBP1 SLC1A4 HEPACAM SLC12A6 SLC6A8 PIGH SYNJ1 LMAN2L FRMD4A KIF7 KRAS NKX6-2 KCNAB2 POMT1 ARHGAP31 SLC13A5 B4GAT1 ARID1B FGFR3 RAB3GAP1 TCF4 RNASEH2C POLG GPC3 ERCC3 CLP1 STIL UPF3B KIAA0586 SIX3 SACS TBP MOGS COASY NDUFS7 ATRX MAPT TMEM138 SLC1A2 MED25 TSC1 TYMP CHMP1A NSD1 SMO COX7B SCN8A MTRR HCCS RAB3GAP2 DNAL4 WDR35 CC2D2A CHMP2B WWOX MT-ND4 PDGFB AUH NR4A2 VPS13A B9D1 NUP62 KCNK4 PAFAH1B1 WDR45 CCDC174 ABAT FAM111A DYNC1I2 CDK6 RNF113A SETBP1 ZC3H14 RAI1 HIBCH SLC35A2 ATP6AP2 L2HGDH PTCH1 MRPS16 PIGQ RPGRIP1 INPP5E GATAD2B PIEZO2 GNAS PDSS2 TCTN2 FGFR1 CACNA1B POMGNT1 SUFU ALDH18A1 TRAPPC12 TIMM50 SMARCB1 MAG TREX1 SEPSECS NEDD4L NFIX BUB3 CEP290 DDX3X FLCN ARL3 PSMB8 VRK1 ARSA KDM1A KLHL7 LAMB1 TRAPPC11 FANCI SLC39A14 FA2H BRF1 NDUFV1 DDHD2 TRAPPC9 RAB23 COPB2 VARS1 RAB18 TCTN1 WDR45B TAF1 TBC1D20 TMEM67 MPLKIP MED23 GMPPB OFD1 TOE1 CDON PHC1 FGF8 SSR4 BCAP31 JAM2 SUZ12 SDHA EBP ARL13B ACTL6B FAM126A MICU1 HSD17B4 EEF1A2 KCNB1 ACTA2 CEP104 MT-ND5 TUBB2B LETM1 TDGF1 HTRA1 ZFYVE26 AP4B1 GPKOW HACE1 RAC1 RARS1 KCTD7 CEP57 PSAP SMARCD1 ETHE1 ERCC6 KIF2A TK2 GPC4 MACF1 SLC9A6 RNF13 SNCAIP PPP2R5D C12orf57 EP300 DIS3L2 AIFM1 CLTC TGFB1 ALX3 ARMC9 TSC2 ANKRD11 EXTL3 DEAF1 SPG7 SIN3A CYP2U1 FOXP2 POMT2 HESX1 WDPCP FKTN PIGP CRPPA DNMT1 NCAPD3 PLAA FRRS1L DCHS1 UBA5 TAF2 PCGF2 L1CAM PDHX KDM5B NANS NOTCH1 DMPK GNAO1 ADAR CEP41 TBCK IFIH1 CARS2 PGAP1 MLC1 PTDSS1 STAG2 CPLX1 CREBBP OTUD6B DIAPH1 MAN1B1 UGP2 LMBR1 WDR34 PARS2 IQSEC1 RERE IRF2BPL KIF14 MT-ND6 VPS53 TMCO1 GALC NSD2 MT-CYB MKS1 LMNB1 ASPA SIX6 DCC FKRP MED12 ERLIN2 PPP2R1A NDUFA10 MT-TL1 NODAL DYNC2H1 KCNA1 MT-ND3 SMARCE1 KIDINS220 SNCA KIAA1109 MTFMT SRPX2 USP7 ARX RFWD3 NOTCH3 BRAT1 PIGN FGF12 PIBF1 NDUFAF3 SHH CILK1 TREM2 ARID2 NDUFA4 TIMM8A CRBN HIVEP2 EIF2S3 IGF1R CYB5R3 ALX1 FAT4 PDHA1 AP5Z1 KCNA2 DLL1 QARS1 GDF1 DNM1L FGFR2 NR2F1 ITGB6 CWF19L1 POLR3A THOC6 POU1F1 PDE6D C9orf72 DNM1 OSTM1 ASNS RNU4ATAC DHCR7 KMT2E SNAP29 GLUL RTTN TUBB SCN3A STXBP1 NDUFB8 TCTN3 GBA2 RECQL4 MAPK8IP3 MCPH1 ADSL NUP188 UBTF MT-TF RPS6KA3 CDK5RAP2 NDUFA13 PDE10A GRIN1 ATXN8OS AMER1 SPATA5 B3GLCT TUBB3 KCNT1 PRDM16 VAMP2 MRPS22 MEF2C NEUROD2 POMGNT2 PROP1 IFT52 MT-ND1 SPG11 COG4 SLC45A1 LAMA1 AP4M1 UBE3B COQ2 NAXD PAH PIGG DCX SCN2A RFT1 ABCD1 PC TMEM216 RSPRY1 MMUT ACTB GLI3 PRKDC MSH2 HTRA2 TRMT10A POMK NID1 RNASEH2B HMGCL POLR3B RAD51 TARS2 WDR60 COQ8A COL4A1 PPP2R3C MFSD2A NHLRC2 BCOR CNTNAP1 LARGE1 TMEM165 MBTPS2 KCNQ2 DISP1 CYP11A1 LRP2 GLDC ADAT3 ASPM CEP63 COG2 POLG2 GCH1 NAA10 MT-TS2 CYFIP2 CENPF DOCK7 GJB1 CYP7B1 SOX2 ATXN3 C12orf4 EARS2 ZDHHC9 RHOBTB2 NONO CLPB EPRS1 MAP11 ENTPD1 TNIK TACO1 TET3 ATN1 BSCL2 PCNT COL3A1 B4GALNT1 LIG4 CDK8 ZIC1 VCP YWHAE VWA3B EPG5 PIK3R2 FMN2 NDUFV2 HYLS1 KIF15 GRIN2A IGBP1 WDR26 BRAF ACTG1 CACNA1E SLC30A10 ZNHIT3 ZBTB20 NDUFA6 SURF1 AP4S1 CDK13 TMEM106B TBCE DISC1 SMC1A KAT6B FH KIF1C PUF60 IBA57 SQSTM1 GLI2 CDC42 ERCC2 DPH1 FLII HIKESHI TUBB2A PNKP BMP4 ATXN2 B3GALNT2 NDST1 PRPS1 POGZ NDUFS2 PPP2CA PRNP CNTNAP2 KCNT2 GPX4 EOGT SLC20A2 ALDH6A1 ATP6V1A HIC1 DHCR24 MT-TK GABRD TBCD CDK10 NACC1 SMARCA4 CSPP1 AHDC1 RNASEH2A SUMF1 OTX2 POLR1C MT-TV GABRA5 C12orf65 NDUFB11 SLC25A19 AHI1 BPTF ZSWIM6 TMX2 MTOR ANKLE2 BUB1B GM2A AMT MCOLN1 EXOSC8 RNASET2 SETD2 NDE1 SCN1B OSGEP SNX14 NKX2-1 CCDC47 NDUFS1 TMEM231 LIPT1 SOX3 HTT SUCLA2 PRRX1 NARS2 NTN1 KIFBP DDX59 FOXG1 COG7 SLC6A9 SPTAN1 NDUFS8 CNKSR2 NADK2 FOXH1 AARS2 DPM2 CEP55 ECHS1 PDYN ATR RRM2B CASR PORCN PSEN1 FGFRL1 DPYD PNPT1 ACY1 PAX6 CEP135 TRAK1 SOX11 KANSL1 PET100 KNL1 ERCC8 NDUFAF2 LRRK2 PHGDH SHOC2 HRAS EML1 MT-TQ SNIP1 SHANK3 GABRA2 SCO2 KMT2A SLC25A22 CLIP1 CACNA1G TMTC3 GPSM2 CA2 HSPA9 DOCK6 TSEN2 GBE1 FLI1 LIPT2 UFC1 GAS1 TMEM70 MT-CO3 NRAS STRADA C2CD3 GRN FTL UNC80 AKT3 RPGRIP1L FBXO31 DLL4 PRUNE1 TGIF1 DONSON MBOAT7 IQSEC2 SKI GBA TRAPPC6B SZT2 RBPJ FOXRED1 CPLANE1 PUS3 VAX1 STAMBP HERC1 ASXL3 TECPR2 PEX1 SLC2A1 MT-TH SLC19A3 TBC1D23 CACNA1A TMEM237 RBM10 DARS2 GPT2 DMXL2 GABRG2 TUBA1A GTPBP2 XPR1 GJA1 MOCS2 CEP120 BICD2 ARNT2 NDUFAF5 NDUFA12 FRMPD4 LNPK NECAP1 ISCA2 LYRM7 SLC25A15 GRIA3 ZBTB18 AARS1 WDR62 GFER ACVR1 TTI2 PRSS12 AP3B2 NELFA CENPJ SYT1 RXYLT1 YWHAG MT-CO1 NSUN2 WT1 TRRAP NFIA RSRC1 JPH3 ARSI ST3GAL3 EMC1 PYCR1 ZEB2 EHMT1 SOX4 TARS1 SASS6 FLVCR2 PEX10 COX15 PDE8B SON SLC25A24 ALX4 FBXO7 AHCY MT-ATP6 ARID1A LHX4 CPT2 PYCR2 EFNB1 MSH6 CDKL5 MT-TW TUSC3 PMS2 BUB1 DAG1 PPP1R15B AIMP1 NDUFA2 AMPD2 MT-CO2 DHDDS CLCN4 USP9X NT5C2 EDC3 SPECC1L ARFGEF2 TMEM107 HCN1 NDUFA9 PRMT7 RB1 SLC25A4 SYNGAP1 OPA1 EOMES RSPO2 ACO2 NALCN ATP13A2 NDUFAF6 TRMT1 SLC46A1 SMARCC2 EMX2 RANBP2 ADH1C CRADD IFT80 LSS CTNNA2 MLH1 ALG11 CSF1R CTNS LINS1 SMG9 VPS13D PLEKHG2 NAGA GTF2H5 CENPE YY1 PANK2 NPHP1 ATP8A2 ZFR ZNF148 UBE2A ADNP NTRK2 LONP1 SAMHD1 TRIP13 GABRB1 LAMA2 CDK5 FIG4 GTF2E2 AGTPBP1 ZIC2 GCSH CASK CTNNB1 MDH2 AIMP2 SELENOI ASXL1 DCPS NRXN1 KIAA0556 TAF13 KIAA0753 RUSC2 SALL1 KIF5C CYP27A1 PCLO PIGC CYB5A APC2 PAK1 PIGA MORC2 SARS1 SPG21 GTPBP3 CC2D1A FOXE3 PROKR2 WAC DPYS TRIM8 ATL1 MOCS1 REPS1 IER3IP1 EZR PSAT1 RMND1 KATNB1 ZNF423 DPF2 NUS1 MAF PRKN TYROBP MSTO1 CUL4B WNT3 DACT1 TWNK CCDC88A GRIN2D FAM149B1 ACADS GRIK2 MID1 LMX1B DEGS1 GJC2 OCRL B9D2 METTL5 ISG15 COG5 RNF168 D2HGDH TSEN54 ARV1 TMEM260 ACER3 VPS13B GRIA4 DARS1 GLRX5 FOXA2 C19orf12 SCYL2 WDR4 SAMD9L CEP152 NEXMIF GOT2 HNRNPU PPP3CA NDUFS3 AP4E1 NDUFS4 FBXL4 GFM1 GABRB2 HNMT MAPRE2 DNAJC19 SIK1 METTL23 WASHC4 AHSG MAP2K2 ERMARD TUBGCP2 VAC14 MT-ND2 PEX16 STUB1 GNA11 DYNC1H1 TECR CIT WDR73 AP1S2 CD96 GLUD2 WDR81 TUBA8 HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY TYROBP NDUFAF3 RNASEH2A ATP13A2 PNPT1 BSCL2 PDE8B TIMM8A ADAR RANBP2 NDE1 PDE10A NDUFB8 RNASEH2B ATXN3 MT-ATP6 IFIH1 VPS13A TREX1 NUP62 FOXP2 SAMHD1 RNASEH2C POLR3A HTT SURF1 COASY JPH3 SCO2 NDUFS2 TUBB2B AIFM1 HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION TALDO1 TJP2 ABCB4 BAAT ATP8B1 EPHX1 HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION SMARCB1 BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO RAD50 SMARCE1 NF2 TRAF7 RNF168 HP_INCREASED_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BONE_MINERAL_DENSITY TBCE OSTM1 SLC39A14 CBL LIMK1 LPIN2 MAP2K1 RFC2 TCIRG1 MPLKIP MTAP SNX10 ERCC6 LRP5 SGSH EIF2AK3 NGLY1 GTF2I TET2 DHCR24 SETBP1 CSF1R ELN CA2 SOST ANKH HHAT TBXAS1 PLEKHM1 CLIP2 SQSTM1 AMER1 GTF2H5 CLCN7 ERCC3 FERMT3 HSPG2 RUNX2 SLC29A3 SCARB2 TNFRSF11A FLNA ENPP1 ERCC8 PTH1R TNFRSF11B TNFSF11 PTDSS1 HMGA2 DVL1 FAM111A RUNX1 ERCC2 LMNA SLC26A2 GTF2E2 GBA RNF113A SRSF2 TARS1 GNAS CTSK LEMD3 TRPS1 NAGLU STX16 MC4R WRN GJA1 TBL2 SIK3 FAM20C MIR140 HGSNAT TGFB1 VCP DLX3 DMP1 AGXT MITF BAZ1B NOTCH3 ASXL1 LRP4 BMP1 EBP ANO5 GTF2IRD1 LBR HP_OSTEOPETROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPETROSIS DHCR24 PTDSS1 GJA1 CSF1R TNFSF11 OSTM1 CA2 FERMT3 MITF TCIRG1 ANKH SNX10 TNFRSF11A PLEKHM1 LRP5 CLCN7 AMER1 HP_HIGH_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_MYOPIA SMS NYX TBC1D24 CYP4V2 PRDM5 ATP6V1A ADAMTS10 CACNA2D4 ZNF469 LRP2 COL18A1 FBN1 SLC24A1 FGFR3 COL9A2 TRPM1 SAG ELOVL4 HERC1 RHO IRX5 ZNF644 GZF1 CABP4 COL11A1 ATP6V1E1 LTBP2 SLITRK6 PDE6B GPR179 CYP1B1 ATP6V0A2 ARR3 LRPAP1 P3H2 CACNA1F P4HA2 RIN2 HS6ST2 TTC8 CNGB3 MYOC CRIPT GNAT1 CPSF1 ERBB3 GNB3 ADAMTSL4 LRIT3 COL9A1 EFL1 GRM6 GRK1 RAB28 HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY PDGFRB KMT2D ROBO4 SMARCAL1 TMEM231 LIMK1 GJA5 TSC2 NEK9 KCNAB2 JAK2 MT-ND1 WDPCP ESR1 FBN2 FANCL FBN1 AFF4 WRN NOTCH3 MEFV ELN ACTA2 IL12A-AS1 CTLA4 MLX PRKAR1A BRIP1 GATA6 ASAH1 MT-ATP6 MYLK THPO MFAP5 MMP14 TBX1 BANF1 GLA CCR1 BRAF BGN KANSL1 PRKG1 AEBP1 KLRC4 ATP7A DGCR8 ACVRL1 AGXT COL3A1 ROR2 WDR26 TP53 MT-CO3 XYLT2 ERCC3 MYH11 COL1A1 MYBPC3 CEP57 ESS2 BSCL2 KCNH1 SLX4 FLI1 NEK1 CTCF NF1 PIK3CA GLB1 CSF2RB CHRNG TREX1 NRAS CYP7A1 ABCG8 LMNA MCTP2 C4A BUB3 NOD2 ARVCF MT-CYB IGFBP7 FANCA CTSA DGCR6 RET MAPK1 BRF1 SKI COL4A1 RAI1 SCNN1A XRCC2 LDLRAP1 GALC FOS MPL RNASEH2B GBA HLA-DPB1 PPARG UBE2T ERCC4 AGPAT2 GTF2IRD1 UFD1 ENPP1 NAGS FANCB HTRA1 GATA5 LRP5 FAS NPC1 MED12 HGD MYH3 EFEMP2 IL12A FANCM RFC2 FLNB KCNJ5 LDLR NKX2-5 SELENOI GGCX GANAB SMAD3 GCDH C12orf57 EP300 POU3F4 DIS3L2 MT-ND5 MMP2 CLIP2 COMT XYLT1 JMJD1C IL23R GATA4 ERAP1 SMAD4 NEU1 PKD2 SOS2 HIRA ADAR BCR BRCA2 TGFBR2 MYOC IFIH1 NT5E SRY TGFBR1 CREBBP ERCC2 NR2F2 TRRAP PKD1 COL1A2 BRCA1 BUB1B PRTN3 MYH7 LCAT DNAH1 EHMT1 MT-ND6 PTPN11 GAA HLA-B MKS1 B3GAT3 SERPIND1 CAT TAB2 MAD2L2 ZMPSTE24 SLC25A24 FKBP14 SMPD1 PPP2R1A COL5A1 KDM6A YY1AP1 GJA8 TALDO1 ABCA1 SMAD6 PIK3C2A CAV1 RNASEH2C DGCR2 BEST1 STRA6 NOTCH1 BUB1 ERMARD ABCC6 PIGN COL5A2 LEMD3 ABL1 CYP1B1 FZD4 HDAC4 SPECC1L SEC24C MT-ND2 MAX FLT4 GJA1 GDF1 KIF1B ADA2 FGFR2 DYRK1B SON PALB2 MEIS2 BMPR2 AMER1 CRELD1 FANCE VHL FGFR1 STAG2 PPP1CB PDGFB RFWD3 KRAS TGFBR3 TGFB3 TGFB2 ALMS1 SRCAP CTNNB1 SMG9 TMEM127 APOE RNU4ATAC GLI3 CHD4 PRDM16 COX7B SCNN1B FBLN5 MT-ND4 MYPN HYOU1 APOB GDNF RREB1 ZNF148 ARFGEF2 SEMA3E UBE3B FANCF SAMHD1 PAH CHD7 TRIP13 CYP17A1 FIG4 NXN TBX5 FOXE3 ZNF687 FARSB NKAP FANCG NPC2 FLNA LOX RERE SLC2A10 TMTC3 MLXIPL LZTR1 ALDH18A1 FANCI TRAF7 UBAC2 FANCD2 TBX20 HES7 APOA5 MMP21 IKBKG PTPN22 HEXA ACVR2B NDP BAZ1B NSMCE2 PCSK9 CSF2RA PTH1R NDUFB11 DYNC2LI1 HLA-DPA1 SDHD PLOD3 GP1BB TLR4 NEDD4L ACTG1 THSD1 MT-ND4L CAVIN1 PIGA RAD51 ERCC5 JAG1 CHST3 BICC1 PCNT ENG SC5D CDK8 GTF2I STAT1 GDF2 MAP2K1 PTEN PIK3R2 DHCR7 IL10 IL12B CRKL STAT4 SH2B3 PRPF3 TPM2 CBS HRAS FMR1 DNMT3A TMEM260 RIN2 RAD51C PUF60 TPM3 HEXB SDHB APP ABCG5 PLD1 ADAMTSL1 LIPC ABCD4 CALR NKX2-6 CYP27A1 PLOD1 POR FANCC GUCY1A1 TSC1 SLC20A2 ARL6IP6 TBL2 TGDS HOXA1 HCCS RBM8A CEP19 ARF1 WT1 GABRD ADK VAC14 TULP1 LIPA RNASEH2A ANGPTL6 PSAP NDE1 TNXB MAT2A TKT GM2A CYP11B1 TET2 RPS19 MAP1B SCNN1G ANTXR1 ACTB 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 CIZ1 CP TOR1A COL6A2 COL6A1 NEK9 SYNGAP1 COL6A3 PRKRA PPP2R5D GDF6 FLI1 DRD2 MYF5 KCNC3 TGFB2 GCH1 MEOX1 PNKD KCTD17 ERGIC1 COL12A1 PRRT2 HPCA ANO3 CDK10 TUBB3 KMT2B NAA10 GNAL TBP ATP13A2 GDAP2 COLEC11 TRPV4 PCGF2 THAP1 SCP2 TGM6 MAPT ZNF142 KIF1C CACNA1A ACTA1 GDF3 ATP1A3 TUBB4A SGCE HP_TEMPORAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_PATTERN MAPT GBA MPZ BCKDHB WASHC5 SNCA NIPA1 TBP SPAST EIF4G1 PMP22 NLRC4 ADH1C ATXN8OS BCKDHA OPA1 DBT SNCAIP ATL1 NR4A2 GLUD2 ATXN2 HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION ITPR3 GALT MT-TL1 PTPN22 MECP2 NDUFAF5 NDUFAF1 LIPT2 TIMMDC1 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 AIFM1 MT-TP IL6 PNPLA8 MT-ND3 GALK1 HNF1A NDUFB3 NDUFA6 NDUFS6 BCS1L NDUFB9 FOXRED1 LDHA MT-ND1 NDUFS2 NDUFV1 NDUFAF4 SLC25A26 PDHX NDUFS3 UQCRC2 NDUFV2 NDUFS4 TWNK TKT MT-TK MT-TF GALE POLG SLC25A13 NDUFA1 PC ACAT2 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 MT-TI RPIA MPC1 NDUFS1 NUBPL HP_ABNORMAL_GLUCOSE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS PLIN1 ABCC8 CASR PRSS1 ELMO2 MICOS13 INSR PDX1 PHKA2 SPINK1 ADCY3 MT-CO1 REEP6 STAT3 DMXL2 KIAA1549 GPC3 EDA2R KCNJ11 HMGA1 GPR35 LIPE PPP1R3A NSD1 ATM PAX4 RDH12 MCCC2 MT-TL1 MT-ND4 TTC7A SH2B1 NDUFS3 AUH POLG2 ATP7A GJA1 TCF4 MT-TK HESX1 TTPA HRAS INS ALAS2 SLC37A4 CEL PTCH1 XRCC4 DLD BSCL2 SLC7A14 LMNB2 BBS2 PCCA PALB2 HADH MC4R AGBL5 WRN ACADVL TREX1 SLC19A2 TBX19 SERAC1 PDE8B GREB1L IL6 BEST1 SLC25A20 WFS1 ATP5F1D MST1 NDUFS6 CFTR RETN NBAS GPD2 SLC16A1 HYMAI HNF4A FGF8 UQCC3 TP53 DCAF17 AGPAT2 OFD1 TINF2 MAGEL2 APPL1 ACAT1 AKT2 ARL6 GTF2IRD1 NDUFS8 NDUFAF3 TDGF1 CDHR1 SNORD115-1 ZFYVE26 TMEM126B IGF2BP2 CNGA1 DHDDS MEN1 CPT1A HNF1A HBB PPP2R5D MT-TW GPR161 DGUOK NEK2 SNRPN MAK MMP2 CLIP2 GCK ZFP57 PRKACA GLIS3 NDUFS2 NDUFV1 C8orf37 TFAM USP8 DMPK LEP BRCA1 ADAR UQCRC2 PCK1 IFIH1 RNF125 CERKL AIP RAC1 OTC PREPL ACADM PCSK1 MRAP MT-ND6 SCN4A TERT MT-CYB FBP1 LEPR BRCA2 CAT HMGCL GH1 FOXP3 PRPF4 BCS1L PLAGL1 NODAL TANGO2 TUB TTC8 PIK3R1 NDUFB3 POLA1 PWRN1 CDKN1C AR PYGL IL2RA ACAD9 CAVIN1 KCNQ1 HGSNAT EIF2S3 ZMPSTE24 IGF1R DLL1 PEX10 CTC1 DNM1L ARHGEF18 PMM2 RET RP1 NSMCE2 CDKN2B MTO1 NDUFS7 POU1F1 MT-ND1 CAMKMT BCKDHB AMACR NAB2 IFT172 EIF2AK3 MKKS MT-TF ALMS1 GUCA1B PDE6G CCDC28B MT-ND3 CPT2 APOE GCDH CDKN1B IDH3B NEUROG3 LMNA PROP1 ALDOB PDE6B MT-TE HNF1B LHX4 SLC5A1 MC2R GYS2 PC CYB561 HLA-DRB1 POMC GLI3 NDUFS1 SPATA7 TRMT10A BLM KRAS FLT1 FXN ACADL RPGR HADHA APOA5 NFKB2 DISP1 BLK CYP11A1 POLG WDR11 BAZ1B MT-TS2 UQCRB NDUFS4 GK BCKDHA SOX2 UBR1 CDKN1A KCTD1 CLPB SLC12A3 SLC16A2 PCNT FAH EYS RGR STAT1 HADHB PTPN1 CLCNKB ERGIC1 ACADSB ZBTB20 NDUFA6 AIRE KLHL7 PLCD1 ACSF3 DIS3L2 CDH23 FOXC2 NDUFA1 NDUFA11 USH2A CTRC POC1A MPC1 RP2 MOG MT-ATP6 SNORD116-1 CIDEC POGZ PHKG2 BBS1 PDE11A FAM161A KCNE3 RPE65 PARN ASXL2 SLC40A1 IGFALS KDSR ARL3 LRAT GATA6 FOXRED1 GALT NDUFB9 MERTK ITGA8 RNASEH2A OTX2 MPI POMGNT1 SETD2 PNPLA2 MRPS2 EFL1 CRB1 NUBPL LIMK1 SOX3 SLC2A2 ESR1 FGF20 GNAS AFF4 SLC22A5 PRPF6 MT-ND2 KLF11 NOTCH3 COG7 LIG4 ELN FOXH1 PWAR1 PCCB RRM2B PRSS2 WRAP53 HAMP MT-TC FUT8 MMP14 HSD3B2 DBH CP ZNF408 BRAF PAX6 NDUFV2 AEBP1 GHR PSTPIP1 HMGA2 HSD17B10 LRP6 PALLD MT-TQ CDKN2A MPV17 CACNA1C NDUFB11 MTOR AGL HSD11B1 GPC4 TIMMDC1 NDUFAF8 NDUFB10 SIX3 GAS1 MT-CO3 SMAD4 CORIN MLYCD CRX CA5A PRKAR1A TGIF1 NDN LRPPRC RBP3 CNGB1 SLC1A1 LIPC ZNF513 NDUFAF4 FOS CISD2 IFT140 NR1H4 HFE IRS1 RNASEH2B ARMC5 IGF2 LEMD3 PPARG EDA CDON GLRX5 MAPK8IP1 ROBO1 CDKN2C MT-TH STAR PTPN22 CAV1 RFC2 MCCC1 KIZ SGPL1 PRPF8 FOXP1 PCK2 FGFR1 CACNA1S VANGL1 G6PC SUCLG1 STAT6 NEUROD1 ABCA4 UCP2 NRL GJB4 WT1 GJB3 SBDS MT-ND5 PTF1A ITCH PROM1 IMPDH1 PROKR2 ETFDH PRCD BMP2 PNPLA6 KDM6A NDUFAF2 KCNQ1OT1 CA4 RNASEH2C POLR3A NR2E3 PPP1R15B PCARE MT-CO2 GHSR STOX1 KCNJ18 PDE4D MFN2 PPM1B DOLK CTNS DNAJC3 GLUD1 SLC25A4 CLRN1 AHR PRKAG2 OPA1 NDUFAF5 PGM1 NOP10 SIM1 CTNNB1 HERC1 LHX1 SAMD9 DBT CPA1 SLC29A3 COG8 TOPORS SCAPER ARL2BP WARS2 SAMHD1 PEX6 NPAP1 GPR101 CNOT1 PRPF3 ZIC2 CYP19A1 FUZ PTRH2 MT-TV FBN1 MLXIPL IGF1 TWNK APC2 PAK1 RTEL1 NDP AHI1 ETFA TXNRD2 SAG HMGCS2 PNPO HERC2 IER3IP1 SHPK SLC52A1 MRPS7 CNBP CYP21A2 NNT PROK2 ETFB NR3C1 GTF2I DHX38 PTEN IDH3A HJV RHO SHH NPM1 RP9 IARS2 TCF7L2 DNAJC21 RLBP1 NKX2-5 GLI2 SLC3A1 MTNR1B MKRN3 SRP54 FOXA2 IRS2 TERC ITPR3 ARNT2 CTDP1 NDUFAF1 DNAJC19 PRPH2 ROM1 TBL2 POLD1 MAFA CEP19 SEMA4A RFX6 TULP1 SNRNP200 IFT88 FSCN2 GATA3 STUB1 ENPP1 HLA-DQB1 NHP2 IMPG2 SUFU SARS2 TKT USB1 PRPF31 ACAD8 SLC30A8 DKC1 PDE6A PEX1 GABRA3 HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION ABCC8 NDUFAF5 BCKDHB MICOS13 PDX1 INSR CPT2 PGM1 NAB2 HYMAI PHKA2 FGF20 AFF4 SLC22A5 MT-ND2 KLF11 DMXL2 KCNJ11 NOTCH3 COG7 GPC3 PPARG TBX19 MT-ND3 HERC1 PCCB HADHA SAMD9 DBT GCDH STAT3 PROP1 FUT8 COG8 HSD3B2 DBH HADH MCCC2 SLC25A20 NDUFS3 AUH WARS2 NDUFV2 ALDOB ATP7A GHR PHKG2 BLK LHX4 HSD17B10 MC2R GJA1 MPV17 GYS2 PC HESX1 CYB561 CACNA1C HRAS POMC AGL INS NDUFB11 GLI3 NDUFS1 SLC37A4 TRMT10A MRAP MTOR DLD PCCA LMNA GPC4 CYP11A1 TIMMDC1 ZFP57 NDUFAF8 NDUFB10 HMGCL ACADVL ACADL IGF1 SERAC1 MLYCD HNF4A APC2 GREB1L IL6 PAK1 NFKB2 CA5A ATP5F1D GCK NDUFS6 FOXRED1 SOX3 GLUD1 LRPPRC NBAS SLC1A1 WDR11 UQCRB MT-ND1 NDUFS4 NDUFAF4 SLC16A1 GK NR1H4 BCKDHA ETFA TXNRD2 IGF2 UQCC3 HMGCS2 PNPO FBP1 CDON SHPK ACAD9 SLC52A1 MRPS7 ACAT1 AKT2 CLPB ROBO1 NDUFS8 NDUFAF3 CYP21A2 PYGL TMEM126B STAR TANGO2 PTPN22 NNT ETFB NR3C1 MCCC1 FAH CPT1A SGPL1 HNF1A PPP2R5D CACNA1S GPR161 PTEN ZMPSTE24 PPP1R15B DGUOK HADHB MEN1 PCK2 ACADSB NDUFA6 PTF1A IARS2 G6PC SUCLG1 NDUFS2 STAT6 ARMC5 NEUROD1 NDUFV1 TFAM UCP2 UQCRC2 PCK1 ACSF3 RNF125 GLI2 SLC3A1 OTC NDUFA1 PREPL FOXA2 PIK3R1 ACADM NDUFA11 PCSK1 MPC1 ITPR3 SCN4A APPL1 PROKR2 MT-CYB ETFDH CTDP1 POGZ NDUFAF1 GH1 PAX4 KCNE3 KDM6A DNAJC19 NDUFAF2 ASXL2 KCNQ1OT1 BCS1L PLAGL1 CEL NSD1 GATA6 RFX6 NDUFB3 CDKN1C GALT NDUFB9 GHSR ITGA8 KCNJ18 OTX2 MPI PPM1B KCNQ1 DOLK EIF2S3 EIF2AK3 ACAD8 SETD2 RET MRPS2 PRKAG2 MTO1 NDUFS7 POU1F1 CAMKMT GABRA3 NUBPL HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL LIMK1 POMK SYNJ1 SUCLA2 NEB CPT2 FRG1 PSEN1 POMGNT2 FKRP MYH7 POMT1 LPIN1 FHL1 NARS2 B4GAT1 TSFM LMNA TIA1 CRPPA RAF1 KLHL9 OCRL NOTCH3 COG7 DNM2 PABPN1 LARGE1 ELN TNNI3 NEFL DPM2 GMPPB RRM2B TK2 LIPE SYNE2 TRIM32 LIMS2 DOLK C19orf12 HADH DMD DNA2 FKTN LAMA2 POLG2 VPS13A AGXT DAG1 COL6A2 FHL2 SYNE1 TMTC3 ACTN2 BSCL2 CAV3 MYMK COL6A1 MT-TW HNRNPA1 AGL CRYAB CHCHD10 POMGNT1 DYSF ACADVL COL6A3 CAPN3 VCP DES TPM2 LRP12 SLC25A20 LAMA4 ATP5F1D TRAPPC11 TMPO TNNT2 COL4A1 LAMP2 AR COA7 SGCG FOS MICU1 PLEC TOR1AIP1 DGUOK AGPAT2 GNE HNRNPDL MYH14 USB1 GTF2IRD1 COG8 TPM1 PPARG ALG14 HNRNPA2B1 DPM3 SGCB PIGY AP5Z1 RFC2 PLA2G6 INPP5K SIL1 MYPN SGCA HAND2 POLG ACTA1 CPT1A B4GALT1 DPAGT1 PLEKHG5 RNASEH1 DNMT3B B3GALNT2 TMEM43 BVES NEBL TAF1A RBM20 ORAI1 CLIP2 PYGM POMT2 SCN4A SQSTM1 EMD XK CACNA1S MT-TL2 STIM1 MGME1 CAP2 CHKB RXYLT1 PGAM2 SMCHD1 ACADM RYR1 ALG2 DNAJB6 CCDC115 DPM1 GAA FLNC MTMR14 AHCY HINT1 LTBP4 TANGO2 CAV1 ABCC9 CFL2 KCNA1 TTN KCNJ18 ACAD9 CAVIN1 ANO5 TPM3 NSUN2 GFPT1 DSG2 SLC25A4 KLHL41 PGM1 ANKRD1 MT-TE MYBPC3 TAZ TCAP ISCA1 MYOT LMOD3 TXNRD2 MATR3 MSTO1 HSPG2 COQ2 MYF6 FKBP14 GATAD1 SELENON COL12A1 PIK3R5 C1QBP PHKA1 VCL VMA21 POGLUT1 PRDM16 SGCD TNNC1 DMGDH PEX6 ACADL TRMU TMEM165 PNPLA2 BIN1 TRPV4 TWNK BAZ1B FLAD1 ABHD5 HACD1 ISCU GOSR2 TRAPPC2L ITGA7 SDHA PPCS PLN CNBP MVK TRIP4 FAM111B ADSS1 PDK3 BAG3 RBCK1 GTF2I MT-TN KBTBD13 PSEN2 PIEZO2 SCN5A CASQ1 MPZ UQCRFS1 MPV17 NEFH SLC52A2 DOK7 KY ACTC1 DUX4 MT-TL1 LAMA1 LDB3 SLC16A1 COL9A3 MYL2 CSRP3 KCNE3 TBL2 TBCD SETX ENO3 LDHA TFG PYROXD1 SLC25A42 MAP3K20 MYH6 AIFM1 NEXN GABRA3 FDX2 HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY BAP1 SLMAP SMARCAL1 SDCCAG8 KCNJ1 DSG1 ELP1 FKRP ARHGAP31 MT-CO1 CLCN2 SCN5A FGFR3 HEPHL1 EPCAM NF1 EYA4 KCNJ11 CC2D2A CACNB2 NDUFAF1 GPR35 MFAP5 CYP11B2 GNA11 SHOC2 HCCS GLA CCR1 BGN MT-ATP8 MT-TL1 CCR6 TMEM43 BPTF CALM1 CALR TTPA GBA CFI MYBPC3 CEP57 COQ2 CLCNKB BSCL2 GNAS SUGCT ESCO2 PHYH MRAS ELN GLB1 CSF2RB SELENON MT-ND4 ACADVL SARDH PAX8 BBS4 TREX1 SFTPC SLC19A2 ABCG8 SFTPB NFIX BUB3 PDE8B IGFBP7 AQP2 AKT3 FOXC2 F13A1 LYST BRF1 FOXF1 SLC25A11 ARSA F11 TEK MPL SFTPA2 WT1 EBP CHCHD2 PKP2 TNNI3 ACTA2 UFD1 DDC LEMD3 MYOZ2 HNRNPA2B1 CTC1 SH2B1 SDHD IRF5 JAK2 WIPF1 DLST CASQ2 PCCA HBB GANAB LRRK2 MT-TW EP300 POU3F4 FGB CAPN5 ANKRD11 MMP2 COL4A3 VWF PYGM FKTN WAS ZFP57 IL23R MT-ATP6 SMAD4 WNK4 DIS3L2 LBR DCHS1 CACNA1S ALPK3 MAFB CFH F2 USP8 SOS2 DMPK LEP ADAR BCR GP1BA IFIH1 FBN1 GNB3 KCNE1 MSH6 CFHR1 CREBBP POLG SH2B3 PKD1 PRKAR1A STK11 ACADM IRAK1 MEN1 SCN1B MT-ND6 RRM2B DNMT3A PPOX FBP1 LEPR ADAMTS10 MT-ND4L HMGCL BMPR1A ATXN7 KCNH2 MED12 RPS17 MYL4 SLC25A3 APC IL12RB1 LARS2 RAF1 TANGO2 ALPL NEK1 CAV1 NAA10 TGFBR2 PRKACA MTTP ERMARD PIGN COL5A2 KCND3 NDUFAF3 H19 FGA CFTR RPL31 RIT1 RPL15 ACAD9 TUBB LMNA FTL ADA GDF1 KIF1B TGFB3 POU1F1 CST3 CTSH KCNJ2 KIT PRDM5 PRDM16 VHL ABCC8 SDHB DTNA GDAP1 NPHP3 PMS2 PIGM A2ML1 ABCC6 MT-TF ALMS1 TRPC6 CCDC28B PDCD10 AVPR2 CPT2 APOE PLOD1 TBCK PROP1 PDE3A KCNQ1 GDNF RREB1 TMEM237 SDHC TSC2 WASHC5 PEX3 RPS10 CYB561 MMUT WNK1 DES ACTB USP18 HTRA2 ITGA2 TBX5 MKS1 LOX ZBTB16 MT-CYB FBLN5 TMTC3 FLT1 TRDN SP110 HCRT TAB2 HLA-B NKX2-5 ABCA3 ACADL BCOR APP TPI1 SNTA1 PTPN22 SEMA4A ATP6V0A2 KYNU MYL3 FLAD1 RTEL1 VPS35 ASXL1 CDC73 TRAF7 WDPCP F8 TBX4 KCTD1 TRIM28 GP1BB NEDD4L CYP7B1 PIK3CA BBS12 SLC12A3 COL4A4 KCNE3 SLC17A5 C3 IFT27 HFE TET2 SMC3 EPG5 HRAS PIK3R2 HADHB MAP2K2 BRAT1 BRAF CRKL MT-ND2 SPARC STAT4 GFI1B BBS7 UQCRFS1 TPM2 CBS SNAP29 COL4A1 ADAMTSL4 TPM3 CDH23 GNPTAB ENG HBA2 CDC42 IDUA TBX1 IL12A GMPPB MLH1 DPH1 RPGRIP1L ITGA2B CAV3 LZTR1 CCDC22 DCTN1 CACNA1C PDE11A CNTNAP2 PEX10 NR3C2 SERPINF2 KRT18 VCP HELLPAR ABCC9 MTFMT HSD11B2 RNASEH2A SCNN1G HLA-DRB1 MT-TV PSAP SLC25A26 NDUFB11 SMARCE1 CD46 RRAS MAT2A IFT172 CACNA1D WDR19 SLC4A1 CYP11B1 CALM2 TNFSF15 CCN2 TBX3 RPS6KA3 B4GALT7 POMT2 CLIC2 CFHR3 OSGEP ROBO4 LIMK1 CPOX MT-ND1 AFF4 SLC22A5 LYZ MAPRE2 NOTCH3 ARL6 CYSLTR2 GBE1 GNAQ SYNE2 ADA2 MT-TC TSC1 HSD3B2 ALDH18A1 NRAS FAM13A SAA1 HADH DNM2 KANSL1 DMD ERCC8 FHL1 LRP6 MT-TQ PROS1 TP53 MT-CO3 XYLT2 MYH11 NDUFS2 TNNT2 SYNE1 ITGA8 SCN10A MYD88 LMAN1 B2M DOCK6 MYSM1 SCNN1A TECRL SKI CORIN AGGF1 NOD2 NUMA1 DLL4 ZNF365 MAPK1 LAMA2 AGTR1 AGT DST FOS JPH2 TSPYL1 SPP1 TNFRSF11B ARMC5 PLEC DCAF17 HLA-DPB1 PPARG PRKAG2 PPA2 LMX1B MT-TH PEX11B HGD PCCB ALG10B MYLK2 REST PEX12 BBS10 SMAD3 STN1 GCDH BVES BBS9 CD2AP NABP1 HPSE2 SCN4A FLNC SKIV2L G6PC HCN4 HESX1 RPS27 ENPP1 MTM1 LZTFL1 MGME1 TNNC1 DNAJB11 NT5E GGCX TBL1XR1 NR2F2 ITCH ATP7A MYH6 PRTN3 WDR35 ZEB2 SLC35A1 HMCN1 GAA BMP2 PLVAP HJV F10 LIPC SLC25A24 STX16 RET KDM6A FAT4 GATA6 PLP1 ATP6V1E1 LHX4 DPP6 NTRK1 RNASEH2C BEST1 EFEMP2 ABCB6 MMEL1 BUB1 MT-CO2 WNT4 STOX1 MYH7 LTBP2 SPECC1L HAMP TERT NPHP1 DPP9 RASA1 AMER1 LIFR KCNE2 CBL TRIP4 ADCY5 PPP1CB HNRNPA1 RPS24 PGM1 G6PC3 GATA5 RANBP2 SEC63 COL1A1 MYMK KCNMB1 TOP3A CTNNB1 HADHA COX7B SAMD9 PTEN ABCA1 PML SLC29A3 TNFRSF11A SCNN1B ADAM17 HSPG2 NPPA MYPN RPL26 SLC25A20 FKBP14 TTN ZNF148 ECE1 PEX6 TGFB2 GPR101 DOCK8 FLNA ATOH7 MAN2B1 RAB3GAP2 SCN3B CEP290 MYO5B MECP2 CCND1 FUZ ZNF469 SLC2A10 FCGR2C COQ7 AIP TAZ ALDOB RPL27 INS TWNK SFTPA1 PNPLA2 NUP155 EPAS1 PTGIS GTPBP3 KRIT1 ABCA12 SNX10 TNPO3 TXNRD2 PKD2 ANK2 NOTCH1 ADAMTSL2 FAN1 DSP FMO3 VPS33A NOTCH2 DYSF SF3B1 NR3C1 TTR INPP5E EMD LIPT1 KCNJ5 ANKS6 AKAP10 MC2R RASA2 PDE4D LDLRAP1 NRXN1 GJA5 FGG RNF168 POU2AF1 MUC5B TSR2 NNT HNF4A INVS TKFC HEXB FOXA2 GYG1 TMEM127 LRP5 MOG EIF2AK4 SRSF2 PTPN11 KRAS CACNA1H MT-ND5 CACNA2D1 F9 FBXL4 FSHR HMBS RPL35 CEP19 ARF1 LMNB1 MAX DGUOK VAC14 CCNQ COL1A2 GMPPA SDHA BBIP1 FXN ANGPTL6 NDE1 CD109 HPGD NEXN BCHE MAP1B GABRA3 PLIN1 GDF2 HAAO F7 FMR1 CSRP3 KCNK3 GPC3 EDA2R RRAS2 MEFV CTLA4 RPL5 MED25 TTC37 CHD7 MTRR BANF1 REN DHPS PROC MLH3 MSH2 POLG2 NCAPG2 STX3 TRIM32 COL3A1 GIGYF2 COLQ GJA1 TCF4 RUNX1 AKT1 MT-TK ALB SLC7A7 IRF2BP2 SLC37A4 SEMA3E CRYAB MAP3K7 WRN DVL1 KLHL3 THPO AGA POU6F2 TBX19 DAXX C4A RPS28 TRPM4 COL4A2 PSMB8 TCAP MYH9 MST1 ADD1 RAB23 F5 SGCG GPD1L OFD1 LDB3 FGFR2 GATA4 CYP3A5 SUFU WNT5A ALX4 AGPAT2 HSD3B7 ATP11A ACAT1 TPM1 GTF2IRD1 NF2 FAS LDLR ERCC6 SMO CPT1A GPC4 HNF1A MUC1 C12orf57 RYR2 ACTC1 CLIP2 GCK COMT IFNG XYLT1 PEX5 GLIS3 KCNN4 DCDC2 ERAP1 SOX5 PCGF2 HIRA PEX19 RNF125 SRY WFS1 TGFBR1 PMS1 MYL2 SOS1 CYP24A1 LCAT MDH2 GSN SCN4B GREM1 PARN IQCB1 PLAGL1 MT-ND3 SLC12A1 STRA6 RPL35A RPS20 AGXT MYC ACTN2 CAVIN1 MTHFR BAG3 EIF4G1 SGO1 ACTN4 PMM2 DYRK1B MTO1 THOC6 BMPR2 GNB5 CRELD1 GLUL MGP NDUFB8 CCM2 SERPINC1 SALL4 ATRX SMAD6 SLCO2A1 TDP2 CTNNA3 B3GALT6 RPS26 B3GLCT BBS5 NEUROG3 PRF1 RPS29 KCNJ18 ARFGEF2 MT-TE GP9 CYP17A1 RSPRY1 THBD LRIG2 TRIM37 JUP NKAP RANGRF IKBKG PRKG1 RB1 SERPINA6 CFB CALM3 SCN9A TCIRG1 ZIC3 CYP11A1 MC4R DVL3 GCH1 BAZ1B MT-TS2 PCSK9 KRT8 PPCS APRT COL4A5 TSHR NONO ITGB3 THSD1 PIGA CUL3 NPHP4 CRLF1 NOS3 FAH STAT1 MAP2K1 KCNE5 CHST3 IL12B IRX5 SLC30A10 AAAS CEP164 PUF60 BTNL2 SMARCB1 DNAJC19 TNNI3K PLD1 SMAD9 BBS1 CASR AKAP9 POR IL10RA EXT2 GPX4 EOGT SLC40A1 ATP6V1A CTCF C8orf37 DLD VCL PEX7 ADK FGF23 PIEZO1 COLGALT1 KIF20A OTX2 RPS19 GUCY1A1 LIPA NKX2-1 DNAJC13 PDX1 TNFSF4 FBN2 STAT5B COG7 APOA1 IL12A-AS1 MLX TJP2 MRPS14 STAT3 MMP14 LIMS2 DBH CP HLA-DQB1 PRKCSH KLRC4 ATP5F1A ACVRL1 SNIP1 SCO2 MRAP FGD1 SNCA FLI1 RAD21 CLDN1 TMEM70 STRADA ROR2 KIAA0319L MCTP2 PEX1 COQ4 ARVCF NFKB2 COG1 RPL11 SOX3 HABP2 TNFSF11 LAMP2 RBPJ GALC SEMA3A CISD2 PLAU RBM20 CLCN7 TBX2 RNASEH2B EDA BNC2 PLN COQ9 NPM1 PEX16 CCND2 STAR SPIB RFC2 PSMD12 SDHAF1 FOXP1 GATAD1 RNASEH1 ERCC4 MEF2A TERC BBS2 DSE XK DNAL1 JMJD1C VANGL1 RPS7 IVD UCP2 TRIP13 GNAI2 NEK9 IDS DSC2 BUB1B SCN2B RYR1 EHMT1 GNPTG MKKS YY1AP1 RMRP POLR3A FZD4 SPRY2 MYLK TRAF3IP1 P2RY11 TMEM67 SGCD SEC24C PDSS1 FLT4 LAMB2 SLC25A4 POMT1 KCNJ8 TTC8 GATA1 FGFR1 SDHAF2 PDGFRA SIM1 ELAC2 TGFBR3 SURF1 WIPI2 CLCF1 TTC7A ACE PEX26 SCARB2 KCNA5 APOB PSEN2 FH SAMHD1 NOS1AP BRCA2 FIG4 CIZ1 XPNPEP3 RHBDF2 FARSB TF PSEN1 MLXIPL RBBP8 CYP27A1 IKZF1 PEX13 UBAC2 RARA UBE2A EGFR NDP PDGFB NSMCE2 CSF2RA FIP1L1 ISCU SERPING1 PEX2 HLA-DPA1 NEK8 SHPK DSG2 PLOD3 TLR4 SLC25A13 TLL1 CNBP CYP21A2 COPA PKHD1 BICC1 RPS15A SBDS LPL RS1 GTF2I MVK KIF23 PAM16 THOC2 IL10 RPL18 D2HGDH DDX58 CYP26C1 SOX10 TMEM260 COL5A1 GLI2 ABCG5 FN1 GATA2 ABCD4 HPS1 PHF21A STING1 TBL2 RNF135 ACTA1 PEX14 HBA1 TNXB SARS2 CD55 HYMAI PHOX2B ZMPSTE24 ACAD8 FOXE3 NFU1 MCFD2 F13B HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA GATA4 CYP11B1 PAX3 MAP3K1 WNT4 SOX9 IRF6 POR ZFPM2 WWOX DHX37 NR5A1 CYP17A1 NR0B1 WT1 DMRT3 PPP2R1A CYB5A VAMP7 B3GLCT GLI3 SRY HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY DHH WNT4 WNT3 CHEK2 HCCS BRIP1 RAD50 TP53 RAD51D RAD51C PLG FANCB DCAF17 NDUFB11 BARD1 BRCA1 WT1 HYLS1 COX7B NBN KIF7 AR PTEN BRCA2 MRE11 RAD51 PALB2 HP_ABNORMALITY_OF_BLOOD_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_CIRCULATION BAP1 VHL PDX1 TSC2 F7 ARHGAP31 SH2B3 STK11 STAT5B EPCAM NF1 NOTCH3 CYSLTR2 MEFV IL12A-AS1 CTLA4 KCNJ11 TERT PCCB STAT3 APOE CYP11B2 CTNNB1 HSD3B2 F10 DNM2 ITGB3 CCR1 PROC MLH3 MSH2 PRKCSH KLRC4 ATP7A STX3 ACVRL1 COL3A1 HLA-B PROS1 BCOR AKT1 XYLT2 SLC7A7 FGA CFI IRF2BP2 CST3 GNAQ MYD88 LMAN1 B2M DOCK6 PCCA F2 SDHD SDHA GP1BB DAXX C4A AGGF1 ARVCF NUMA1 DLL4 AQP2 COL4A2 JAK2 RET LYST COL4A1 RBPJ F5 SLC25A11 CCM2 F11 TEK CISD2 PLAU HLA-DPB1 SUFU F13A1 HSD3B7 NPM1 UFD1 NF2 LRP5 FAS MYH11 CTC1 GNA11 IL12A SMO WIPF1 DLST TSC1 SMAD3 TET2 ABCC8 STN1 GCDH FGB CAPN5 NABP1 GCK ELN COMT VWF IFNG XYLT1 WAS GP1BA ZFP57 JMJD1C IL23R LBR ERAP1 IVD ENPP1 SMAD4 CFH NOTCH1 HIRA FBN1 GGCX TBL1XR1 MSH6 WFS1 TGFBR1 PMS1 SDHB SERPINF2 PRTN3 MDH2 SLC35A1 HMCN1 DNMT3A FGG PLVAP BMPR1A GREM1 APC PLAGL1 ALPL CPT2 FZD4 BEST1 TBX1 TGFBR2 RPS20 MYLK ABCC6 MYC ACAD9 GBA SEC24C MAX CYP11B1 KIF1B ADA2 PMM2 THOC6 KIT RANBP2 SDHAF2 SEC63 PDGFRA PMS2 TGFBR3 TGFB3 ATRX SLCO2A1 PDCD10 AVPR2 TMEM127 TTC7A SAMD9 PTEN PML ADAM17 PLOD1 PRF1 PIK3CA SDHC GDNF RREB1 FH LMNA TGFB2 DOCK8 GP9 CYP17A1 ATOH7 ITGA2B MMUT USP18 MYO5B ITGA2 F8 RHBDF2 ACTA2 ZBTB16 CYP11A1 IKBKG PRKG1 FCGR2C RB1 ALDOB SP110 INS IKZF1 UBAC2 APP RARA EPAS1 SEMA4A ATP6V0A2 NDP KRIT1 PDGFB FIP1L1 TRAF7 HLA-DPA1 MPL TLR4 SLC25A13 CYP7B1 THSD1 FAN1 COPA ATP6V1A SF3B1 SBDS ENG FAH RS1 PRKAR1A MVK GDF2 KIF23 MFAP5 LOX IL10 SPARC STAT4 RNF168 GFI1B CBS CYP26C1 PUF60 SMARCB1 PTPN22 FN1 GATA2 HPS1 MLH1 KRAS IL10RA F9 FSHR EOGT CTCF FOXF1 TREX1 HELLPAR TERC COLGALT1 ATP6V1E1 CFHR1 ANGPTL6 NDE1 TNXB SMARCE1 CD46 KCNJ5 CD109 HPGD MAT2A HYMAI CACNA1D CFHR3 FOXE3 MCFD2 F13B HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION TTC37 HAMP CP SKIV2L TFR2 BCS1L TRNT1 CARD9 COG2 PKLR SLC7A7 BMP2 HFE AP1S1 HJV ATP6V0A2 HBB SLC30A10 KIF23 STEAP3 ATP7B FOXP1 TMPRSS6 SCO2 SLC39A8 AP1B1 SPATA5 SLC30A2 ALAS2 HP_ABNORMALITY_OF_IRON_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS KIF23 TTC37 HAMP STEAP3 FOXP1 CP SKIV2L TFR2 BCS1L TRNT1 CARD9 PKLR BMP2 HFE HJV SLC30A10 HBB ALAS2 HP_ABNORMALITY_OF_FLUID_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FLUID_REGULATION SNX14 SMS FGFR3 IL2RA CAMTA1 PRSS1 LIMK1 KCNJ1 PDX1 IFT172 NEUROG3 FRMD4A FRG1 NEK9 KIF7 BLNK HYMAI INPPL1 CD79A PTEN LYZ FOXG1 SPINK1 MAPRE2 RRAS2 PRPH2 KIF11 MEFV TP53 ELN APOA1 IL12A-AS1 CASP10 CTLA4 KCNJ11 PRKAR1A PCCB LCT ASAH1 GBE1 RRM2B GPR35 PRSS2 RAG2 KRT13 STAT3 CBL ZEB1 ARL3 EPB41 HSD3B2 GRHL2 NRAS GLA WDR35 DBH SERPING1 CCR1 RYR1 IL6 TNNT2 KLRC4 MCEE STX3 KIF1A TCF4 SHANK3 GBA CFI COL8A2 MYBPC3 MRPS16 CHRND CLCNKB RLBP1 PDSS2 MYD88 PKLR BCL2 MRAS PCCA FLNB OTULIN FASLG ASL BRAF PLAGL1 HAVCR2 RAD21 F12 C4A SLC40A1 CYP11B2 BUB3 AGGF1 NOD2 SLC26A2 AQP2 FCGR2A ABCA12 FOXC2 TRIP11 MST1 SPINK5 LAMA2 NPHS2 LYST TGFB1 LAMB3 VPS33B MKKS UBR1 PTPRO NR1H4 B2M GNPTAB SPP1 VEGFC HLA-DPB1 OCRL DHDDS CPT2 TNNI3 LMX1B DCLRE1C APOE LTBP4 SMC1A ACAT1 PMM2 AVPR2 GTF2IRD1 SOS2 FAS HGD IL12A PRF1 CEP57 LPIN2 RFC2 RHO CHRNG FLT4 KCNQ2 MMAA SGPL1 TSC1 ZNHIT3 ABCC8 DIS3L2 FGB DNMT3B CLIP2 GCK SCNN1G STAT4 RMRP ZFP57 DNMT1 KCNN4 IL23R PLAA ERAP1 DCHS1 IVD ALPK3 CFH PEX5 NEU1 SPTB USP8 GJC2 LAMC2 AKT1 PTH1R CARS2 TGM1 CCND1 MYPN ATN1 CTSA HPGD SMCHD1 WDR34 MYO5B IGLL1 IRAK1 BUB1B SOS1 CYP24A1 PRTN3 OVOL2 IL2RB UNC93B1 TNFRSF11B GSN CDH11 PTPN11 HLA-B MT-CYB FECH PIK3CA BMP2 PEX2 PLVAP HMGCL SULT2B1 GRIP1 RP1L1 AHCY ANKRD55 GLE1 FAT4 RAF1 RIN2 DYNC2H1 AIP PIEZO1 KIAA1109 NEK1 SLC12A1 RP9 CCBE1 CD247 BUB1 PSMB4 KMT2A PIGN LAMB2 SLC26A3 LEMD3 FGA RIT1 VSX1 ACAD9 ANKH TUBB GNAQ CTNS HLA-DRB1 ERCC5 TAPT1 DSP ERBB3 ACTN4 SLC25A4 FLNC COL2A1 TNFRSF1B TPRKB PRKAG2 HDAC8 LIPN ACADM SCNN1B RAG1 ALG8 SDR9C7 CCN6 PAX2 ABCC9 SLC35D1 DHCR7 BCKDHB PHGDH NAGA NLRP3 SCN4A RANBP2 SLC25A13 IFT80 COL1A1 KRAS CPS1 A2ML1 GPC6 ALB SCNN1A GUSB OTC SLCO2A1 CLCNKA ATP6V0A4 IGHM NIPBL LAMA3 DBT CYP4F22 SLC29A3 PTPN22 MRPS22 ADAMTS3 KIT MFRP SCARB2 HFE IGSF3 NEB KRT2 COQ2 NAXD CFTR SLC5A1 TRIP13 ADAMTS2 GPR101 NR0B1 CDK5 MMUT ALG12 FIG4 SMC3 ALG9 PLEC POMGNT1 BCL6 CD28 LIG4 NRL GATA2 ACTA1 IL7R ANTXR2 CYP11A1 NIPAL4 WDR60 SOX18 NUP107 POMP INS TNFRSF1A UBAC2 PIGA RB1 PRPF8 EGFR POLG SPTA1 ADA PLCE1 MAP2K1 POLG2 BAZ1B CALCRL NDUFS4 TLR3 RDH5 AK2 TRAF3 BCKDHA ALOXE3 F8 ASS1 HLA-DPA1 LRRC8A GYPC EBP TSC2 KCTD1 ABCC6 TLR4 HLA-A ACTG1 FGG MVK BMPR1A ACSF3 LBR CHEK2 TWNK DYSF CCDC88A PKHD1 TICAM1 REEP6 KIAA0586 PSMB9 SLC17A5 TMPRSS15 WNT7A GTF2I KLHL41 BMPER HADHB MAP2K2 MMAB RASA2 ATP7B NR2E3 DNASE1L3 IL10 RASGRP1 PSPH NPHS1 PTPN2 XPNPEP2 MIF SAMHD1 LMOD3 INHBA CDC42 UROS IBA57 KLHL40 COL1A2 EPHB4 TMEM260 DUX4 BTNL2 ENG KLF1 ITGB4 HBA2 ALG1 PLD1 FN1 CD79B CHD7 CTRC SETD5 TBK1 CHRNA1 PRPF31 MYO1E LZTR1 CPN1 IL2RG COQ8B ALOX12B COL11A1 FSHR PTPN14 PDE6G ARHGEF18 SMAD4 NR3C2 TBL2 NAXE TREX1 HBA1 RBM8A CA12 RELN HELLPAR VAC14 TCF3 PIK3R1 ARHGDIA IL1RN HADHA CDAN1 KIF20A SUMF1 MPI CD46 RRAS EIF2AK3 CD55 SLC4A1 LACC1 ACAD8 TEK KPTN PRKCD TALDO1 BSND ANTXR1 ACTB GATA1 NOS3 TET2 OSGEP HP_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYLOIDOSIS FGA OSMR CST3 MEFV GSN ITM2B NLRP1 SAA1 SLC7A7 TTR NLRP3 APOE RET B2M LYZ PSEN2 APOA1 LIG4 APP PRNP IL31RA CCND1 POLA1 TNFRSF1A HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY SMARCAL1 KCNJ1 ACSL4 TREX1 TMEM67 ELP1 AMMECR1 SDHB SDHAF2 CD81 NARS2 VHL MAGI2 NPHP4 NF1 NEK8 MEFV OSTM1 MT-TF IL12A-AS1 C1QA CASP10 CTLA4 NUP160 TRPC6 C4A GATA3 HNF4A COL4A4 MTRR COQ2 GLA CCR1 MT-ND1 MT-ND4 SDHD KLRC4 CRB2 MT-TE SDHC FH LAGE3 HNF1B MT-TQ NUP85 MT-TK TP53RK LMX1B ANLN PLEC SLC37A4 XPNPEP3 TTC37 VPS33A BSCL2 NIPBL LMNB2 COL4A3 NUP205 LIPT2 COQ7 WT1 APOE FASLG MT-CO3 NUP93 MT-ATP6 NUP107 SDHA UBAC2 FAS INF2 KIAA0586 SCARB2 NPHS2 EPAS1 PLCE1 CLCN5 DGKE SLC25A11 MT-TS2 FOS CEP290 APOL1 PTPRO PAX2 NUP133 ETFA IGF2 HLA-DPB1 NPHP3 ZAP70 OCRL HLA-DPA1 AGPAT2 COL4A5 TLR4 PEX1 MT-ND5 PPARG CAVIN1 ADA SLC12A3 MT-TH REN EMP2 JAG1 IL12A SEC61A1 RET LPIN2 COPA PKHD1 ETFB FAH WIPF1 DLST TBC1D8B SGPL1 CEP83 MUC1 UMOD DNASE1L3 KCNE5 CD2AP CLCNKB IL10 RASGRP1 NPHS1 WAS STAT4 IL23R CFH G6PC CFI ERAP1 ITGA3 C1QC CFHR5 INVS FOXC2 MT-CO1 LMNA PTPN22 ITGB4 MT-TW PGM3 FN1 TMEM127 CD96 PRTN3 MDH2 MT-ND6 MYO1E DNMT3A HLA-B COQ8B ALMS1 ETFDH PEX2 MT-TL1 FOXP3 KCNQ1OT1 PRKCD MT-ND3 CAV1 COQ6 MAX SLC12A1 MME SPRY2 KIF1B MT-ND2 CDKN1C ARHGDIA MT-CO2 WDR19 CSPP1 LAMB2 SLC7A7 MT-TV KCNQ1 C1QB C3 ACTN4 TPRKB NPHP1 BSND WDR73 OSGEP SOX18 HP_ABNORMALITY_OF_RENAL_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENAL_EXCRETION ITPR3 PTPN22 SLC12A3 CLCNKB KCNJ1 IRF5 TMEM67 GALNT3 PLVAP CLDN16 NPHP1 CD46 C3 CAV1 NPHP4 CFB MUC1 SLC5A2 IL6 SLC12A1 HNF1A CLCNKA SLC25A20 AGT AGTR1 CASR ACE NPHP3 KCNJ5 REN CCR6 CTNS AQP2 FAM20A ENPP1 KCNJ10 SARS2 CFH APRT SLC34A1 ATP1A1 CFHR1 AVPR2 BSND CCN2 CFI THBD DMP1 CLDN10 CYP24A1 CFHR3 MAGED2 HLA-DRB1 HP_DECREASED_URINE_OUTPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINE_OUTPUT CFB ACE CFH APRT CFHR1 IRF5 REN SLC25A20 CCN2 CFI CCR6 THBD CD46 C3 CAV1 AGT CFHR3 AGTR1 HLA-DRB1 HP_ABNORMALITY_OF_RENAL_RESORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENAL_RESORPTION COX20 FAM20A COA3 CLCNKB BCS1L SCO1 GALNT3 FAH CEP290 COX6B1 COA8 CTNS HNF4A COX14 TACO1 COX8A OCRL HNF1B MT-TN COX10 SLC12A3 PET100 HP_ABNORMALITY_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HELIX GNB1 SMS PIGY TWIST1 EFTUD2 DACT1 SLC6A8 PLCB4 RTTN GPC4 PPP1CB A2ML1 TCF4 HOXA2 FOXP1 GPC3 RRAS2 MAP2K2 RASA2 BCL11A FBN2 FGFR3 COMT AMER1 PIGL CYP4F22 SALL1 CLIC2 FGFR2 JMJD1C BMP2 PIGO HSPG2 NF1 DYRK1A PEX5 KANSL1 HIRA RREB1 DIS3L2 KRAS FRAS1 TGM1 SEMA3E NAA10 PAH CHD7 EP300 TBX1 SLC26A2 EBF3 SOS1 ACTB SETBP1 TFAP2A LZTR1 LONP1 GNAI3 PTPN11 BCOR NIPBL ALOX12B PEX2 DOCK7 MRAS SULT2B1 NIPAL4 KCNQ1OT1 BRAF PPP2R3C RAF1 AFF2 PIGW TCTN3 NFIX PIGN CPT2 ARVCF PIGA KIAA0586 ABCA12 XYLT2 PBX1 NRAS CDKN1C PIGS CSPP1 SPECC1L RIT1 MAP2K1 TAF1 SEC24C NDP KCNQ1 CBL RRAS TBX2 BHLHA9 PYCR2 IGF2 ALOXE3 FOXP2 ADAMTSL2 PGAP3 GP1BB NR2F1 PEX1 RB1 EDN1 UFD1 SOS2 LIPN PGAP2 PIGV MED12 SDR9C7 SLC16A2 HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT JAG1 IRF5 SPIB POU2AF1 LMNA TNFSF15 RPGRIP1L PEX2 CC2D2A PEX1 TMEM67 PEX5 INPP5E MMEL1 IL12A TNPO3 IL12RB1 HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION CYP11B2 STAR KCNE2 GATM NNT KCNJ1 INSR SCN4A LPIN1 CAV3 BMPR1A CLCN2 CACNA1S KCNJ5 SCNN1A MC2R CTNS CLCNKB CLCNKA SCNN1G CASR ABCB6 SLC4A1 SAMD9 CACNA1C SCNN1B HSD3B2 KCNH2 FXYD2 KCNN4 WNK4 USP8 KCNQ1 INVS KCNJ18 CDH23 CYP11B1 CACNA1D KCNE1 ATP1A1 NOS1AP TRDN CALM1 CYP17A1 WNK1 RYR1 CLDN10 MAGED2 MRAP SLC12A3 SCN10A CYP11A1 KCNE3 NR3C2 KLHL3 NR3C1 KCNJ2 CA12 AIP SCN4B SLC12A1 AKAP9 PIEZO1 SNTA1 HSD11B2 SLC2A2 SLC26A3 KCNJ10 TXNRD2 SLC2A1 OCRL TP53 CALM2 ANK2 SMAD4 SCN5A BSND SLC30A9 CUL3 COL3A1 GABRA3 HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL STAR MRAP BAP1 POR TERT SMO CYP11A1 NR3C1 PRKAR1A LHX4 MC2R DAXX AIP ATRX NFKB2 PROP1 SOX3 CDH23 HSD3B2 HESX1 PDE11A PDGFB OTX2 PIK3CA USP8 SMARCE1 NNT TXNRD2 TRAF7 SMARCB1 GLI2 CYP11B1 SUFU AKT1 GNAS FOXA2 CYP17A1 MEN1 NF2 POU1F1 HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH MSX1 DVL3 RAB23 RIPK4 NECTIN1 LRP6 UBR1 WNT10A PLEKHM1 TP63 DLX4 OFD1 WDR35 BMP4 RECQL4 CDH1 C1R DLG1 IRF6 SMCHD1 KCTD1 C1S ARHGAP29 HP_ABNORMALITY_OF_DENTAL_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_STRUCTURE PLEC LIFR CCDC8 DHCR7 ELMO2 LIMK1 PPP1CB EDARADD TCIRG1 MPLKIP IL17F IL17RC WDR35 MMP13 CEP152 NOP10 NF1 TERT PTEN DDX59 LAMA3 CDH1 ELN KRAS PWAR1 COX7B SLC10A7 ATR TTC7A PORCN ELANE COL1A1 GTF2H5 WRAP53 RAI1 KRT14 SLC13A5 TSC1 IFT122 EDA ENPP1 GJA1 SHOC2 HCCS RUNX2 PPIB IFT52 NHP2 ITGB4 ITGA6 UROS CCR6 RHOA LAMC2 RREB1 MYO7A ERCC8 SEC23A ALDH3A2 MMP20 UBE3B USH2A TNFSF11 LONP1 PEX6 COL17A1 NPAP1 EP300 COG6 USH1C FAM111A POLR1D FERMT1 CYP27B1 WHRN FIG4 GTF2E2 RNF113A HLA-DRB1 TRMT10A SFRP4 GNAS FGFR3 TP63 TBCE GALNS IFT43 GALNT3 GJB2 AMBN NEK1 PDZD7 COL7A1 PTCH2 TRIP11 CLDN1 GLB1 TINF2 FAM20C SUFU NRAS KCNJ2 MBTPS2 ARVCF KRT5 TMEM165 DLX3 AMELX APC CDH3 NDN IKBKG CNNM4 SMCHD1 LAMB3 BRF1 ACP4 IQSEC2 PTDSS1 OBSL1 ATP6V0A2 COL1A2 ENAM PCNT ORAI1 BAZ1B RTEL1 SEC24D UBR1 ROGDI GJB6 NTRK1 OFD1 FAM20A MMP1 OCRL SMOC2 FGFR2 ALPL CDH23 HERC2 PCDH15 FGF10 MAGEL2 GP1BB THOC6 USH1G ADGRV1 TRAF3IP2 GTF2IRD1 UFD1 DMP1 SNORD115-1 ITGB6 CTNND1 CENPE DSPP WDR72 PHEX RFC2 ATP6V1A LRP6 IRF5 CSTB ERCC6 KRT16 CAV1 GTF2I WDR19 LRP4 LTBP3 C12orf57 ZMPSTE24 HRAS PPP1R15B CA2 LMNA ERCC4 DEAF1 STIM1 PDE4D SNRPN ATRIP CLIP2 COMT NPM1 GRHL2 AIRE CLCN7 JMJD1C FAM83H ERCC3 DNAJC21 TCOF1 COX4I2 SLC29A3 VDR CENPJ FGF3 HIRA DKC1 RBM28 AKT1 NECTIN1 CREBBP MKRN3 POLR1C SRP54 SBDS ERCC2 CRLF1 IFIH1 TBX1 FKBP10 TERC SLC24A4 NECTIN4 FLII ZNF469 CDH11 KRT17 TARS1 KLK4 SNORD116-1 PAX1 CTSK CUL7 TRPS1 STX16 TRPV3 PLK4 MAPRE2 PARN AMTN SERPINH1 TBL2 CIB2 WNT10A RBBP8 FLNB PEPD TGFB1 IL17RA PIK3R1 RECQL4 VAC14 PWRN1 SGMS2 ESPN AGA ATP6V1E1 ABL1 TRAIP PERP SEC24C IFITM5 RELT TNFRSF11A CLDN19 EDAR NUP133 KIF7 CYP2R1 PTCH1 USB1 NDUFB11 KRT6B CLEC7A CTC1 KRT6A ODAPH PEX1 CCN2 EFL1 AP3B1 COL3A1 P4HB HP_ABNORMALITY_OF_INCISOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_INCISOR_MORPHOLOGY BRF1 FGFR3 GJA1 GRIA3 NECTIN1 EVC2 KCNK9 CCBE1 NEK1 CTCF TP63 VPS13B GLI1 DLX4 EP300 EVC FGFR2 FARS2 CREBBP FGF10 BMP4 CHSY1 COL11A1 WNT10A CDH1 MSX1 TBC1D24 DLG1 KCNMA1 IRF6 DYNC2LI1 B3GLCT NHS ARHGAP29 HP_ABNORMAL_NUMBER_OF_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_INCISORS PTCH1 BLM MSX1 RIPK4 DLX4 BCOR NEK1 SIX3 EIF4A3 GAS1 EDA IRF6 NODAL SHH FOXH1 ANKRD11 BMP4 DISP1 CDH1 CDON TGIF1 EVC B3GLCT NHS NECTIN1 TP63 EVC2 DLX3 SUFU FGF8 DLL1 GLI2 NAA10 DLG1 TDGF1 FGFR1 ZIC2 ARHGAP29 HP_CONICAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_INCISOR DLX4 FGFR3 EVC FGFR2 NECTIN1 FGF10 BMP4 EVC2 CCBE1 WNT10A NEK1 CDH1 MSX1 DLG1 IRF6 DYNC2LI1 B3GLCT TP63 GLI1 ARHGAP29 HP_INCREASED_NUMBER_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_NUMBER_OF_TEETH NXN FZD2 KCNH1 DHCR7 MSX1 IL11RA CAMTA1 TP63 ACSL4 HSPG2 TRPS1 RUNX2 RPS23 AMMECR1 APC WNT5A ADAMTS3 DDX59 C2CD3 PUF60 IRF6 DVL3 DYNC2LI1 OFD1 ROR2 NECTIN1 BCOR KCNN3 DVL1 KCNE5 MSX2 RECQL4 PIGL CCBE1 FAT4 FGF3 NHS ATP6V1B2 EXT1 HP_ABNORMALITY_OF_DENTAL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_COLOR SLC13A5 NRAS FAM20A USH2A ITGB4 GALNS HRAS KRAS ROGDI ADGRV1 NTRK1 AMBN CNNM4 RELT UROS PDZD7 COL17A1 WHRN ENAM ITGB6 GLB1 MYO7A HP_ABNORMALITY_OF_MOLAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOLAR BRF1 IQSEC2 IFT122 EDA TERT LRP6 NHP2 RTEL1 GALNT3 LAMB3 WDR35 IFT43 NEK1 GJA1 DLX3 NOP10 FGF3 PARN WDR19 IFT52 OCRL USB1 SMOC2 PEX6 TINF2 CTC1 DEAF1 ADAMTS2 DKC1 NPM1 TERC TP63 WRAP53 RAI1 PEX1 NHS FLII HP_ABNORMALITY_OF_CANINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CANINE FGF3 DDX59 APC CHSY1 KDM1A HP_INCISOR_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCISOR_MACRODONTIA BRF1 CTCF KCNK9 COL11A1 GJA1 TBC1D24 GRIA3 FARS2 KCNMA1 VPS13B HP_OVERBITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERBITE ACP4 SPART RIC1 SIX1 ALKBH8 EYA1 EP300 HP_PERIPHERAL_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_DEMYELINATION TYROBP GALC PSAP HK1 SH3TC2 LMNB1 MPZ PMP22 MT-ND4 LITAF COQ7 SURF1 MOCS2 ARHGEF10 FGD4 GDAP1 MT-TL1 MT-ATP6 NEFL UBTF MT-ND3 MT-TK MT-TW FA2H SBF2 SOX10 MT-ND6 MT-ND2 EGR2 PRX ABCA1 GCDH LRPPRC SUMF1 ARSA MT-TV KIF1C MAT1A CTDP1 MOCS1 MTTP MT-ND1 DNM2 NDRG1 PRPS1 MT-ND5 TPRKB NDUFAF4 HP_EPILEPTIC_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_SPASM TANGO2 NSUN2 TNIK SPTAN1 DMXL2 LMAN2L TSC2 KCNQ2 STXBP1 SLC1A4 CRADD NGLY1 GRIK2 SCN8A CDKL5 IFNG ZNHIT3 SLC25A22 FMN2 LINS1 RNU4ATAC PIGP FBLN1 TSC1 GRIN2B FRRS1L PRSS12 KDM5B NDUFAF8 SMARCA2 PHACTR1 SLC45A1 GUF1 CNPY3 HIBCH MT-ND1 PHGDH PGAP1 KIF1A PLCB1 GNAO1 MAN1B1 SCN2A RSRC1 ARX ST3GAL3 IQSEC1 SETBP1 ZC3H14 CLIP1 SLC35A2 CASK EHMT1 PIGQ TRAPPC12 PNKP B3GALNT2 NDST1 DOCK7 DCPS MT-ND4 HNMT SIK1 METTL23 WASHC4 STRADA MT-TL1 MT-ATP6 GRIN2A NTRK2 KCNA1 DHX37 PIGC MT-ND3 UGDH MT-TK FBXO31 WDR45 MT-TW MED25 TUSC3 MT-ND6 SARS1 MT-ND2 AIMP1 MBOAT7 TRAPPC9 CC2D1A CLCN4 EDC3 MT-TV CRBN NEUROD2 MED23 PIGA TRIM8 TECR SLC19A3 C12orf4 ACTL6B EZR MT-ND5 PSAT1 SCN1B SPATA5 ALG13 ASAH1 TUBA8 HP_SPEECH_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_APRAXIA RNF135 SLC25A15 STUB1 USP7 SPART RAI1 FOXP2 CHD1 GRIN2A MED13 CHD3 SRPX2 NONO KDM6B TRAPPC11 MAPT GALT PACS1 HP_INTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_ATRESIA CEP57 MYCN PORCN PTCH1 SEMA3E CHD7 RTTN ITGB4 CENPF ITGA6 FLI1 TTC7A SUFU SIN3A SIX3 GAS1 FGF8 NODAL DIS3L2 FOXF1 TCTN3 DLL1 BUB3 FOXH1 PIGN TRIP13 GLI2 RAD51C FBN2 RFX6 ERGIC1 DISP1 RERE CDON SHH BUB1 TDGF1 CHRM3 BUB1B TGIF1 FGFR1 SPINK5 RFWD3 SALL1 ZIC2 HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY PTPN11 CEP57 CAV3 MYH7 NKX2-5 MYLK2 BUB3 SMAD6 TRIP13 TAB2 IFIH1 NOTCH1 WDPCP BUB1 GATA5 BUB1B MYH6 FGFR1 HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS ZFP57 CYP11B2 HSD3B2 TGFB3 ACTA2 PDX1 ABCC8 SMAD4 FSHR CYP11A1 PRKG1 KCNJ11 MAT2A HYMAI SMAD3 PLAGL1 STX3 FBN1 MFAP5 INS CYP11B1 TGFBR1 TGFB2 LOX AQP2 CYP17A1 FOXE3 TGFBR2 GCK ELN AVPR2 MYH11 MYLK STAT3 MYO5B HP_RECURRENT_APHTHOUS_STOMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_APHTHOUS_STOMATITIS TCIRG1 ITK IL23R IL12A HLA-B DNAJC21 ERAP1 ORAI1 CCR1 ELANE NLRP3 SRP54 MVK IL17RC FAS KLRC4 FASLG IL6 NOD2 MEFV NCF4 C4A IL12A-AS1 CASP10 UBAC2 TLR4 PRKCD SBDS DCLRE1C IL10 RASGRP1 EFL1 GFI1 PRKDC CARMIL2 NLRP12 STAT4 HP_RECURRENT_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINUSITIS SH3KBP1 DNAAF2 GAS2L2 DOCK8 MGP CR2 CFI DNAAF5 RSPH4A DNAAF4 LRBA TNFRSF13C CCDC114 HYDIN FCGR3A IGHM IL21R CD19 RSPH1 CCDC65 NCF4 SPAG1 NEK10 IL17RA DNAI2 NME8 UNC119 ACP5 USB1 NFKB2 ICOS ARMC4 ZMYND10 LRRC6 TNFRSF13B DNAAF6 CFAP298 RNF168 HP_CHRONIC_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_SINUSITIS CCDC39 DNAAF2 DNAJB13 RSPH1 RSPH9 SPEF2 CCDC40 SPAG1 DRC1 TAP1 FOXJ1 MGP MCIDAS ZMYND10 RPGR GAS2L2 DNAH1 CCDC151 ARMC4 DNAL1 TTC25 DNAI2 CD79B NEK10 CFAP221 RSPH3 LRRC6 DNAAF1 RNF168 DNAI1 DNAAF5 CCNO STK36 DNAH9 TAPBP HYDIN DNAAF6 OFD1 RSPH4A DNAH5 CCDC114 CCDC103 LRRC56 BLNK DNAAF4 NME8 GAS8 TTC12 PGM3 CCDC65 CFAP298 DNAAF3 CFAP300 TAP2 DNAH11 HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY IFIH1 SP110 TREX1 RNASEH2A SAMHD1 CASP10 RNASEH2C FAS PRKCD RASGRP1 NFKBIA ADAR STAT1 RNASEH2B FASLG HP_ABNORMALITY_OF_THE_NASAL_DORSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_DORSUM TWIST1 SHANK3 CTBP1 NHEJ1 RPS24 SMARCC2 GATA1 EDAR KCNAB2 CEP152 FGF20 COL1A1 FGFR2 WRN PSAT1 LIG4 SMARCD1 EDA2R NUP188 MYH3 RPL5 CEP55 PIGL PYCR1 ATR ATRX COG4 RPS26 GLI3 HRAS PROP1 PRDM16 FGFRL1 HSPG2 TBX1 BANF1 RNASEH2A GMNN RPL26 CC2D2A RPS29 SOX11 RUNX2 MBTPS2 TRAF6 SAMHD1 DNA2 EP300 TRIP13 HDAC6 COL11A2 TMEM216 RPS10 TCTN2 ALDH18A1 XRCC4 CHRND TTC37 RPGRIP1 HSPA9 TBCE RERE DONSON PEX1 SLC2A10 DZIP1L MAN2B1 SMARCB1 TREX1 PPP2R3C PEX12 LMNA IGF1 BUB3 CEP290 APC2 GREB1L RPS28 APC KLHL7 B9D1 RPL11 SOX3 PTPN11 SKI PHGDH PCNT TWIST2 UBR1 TMEM67 ABCA12 SMARCA4 RPGRIP1L ASXL1 RNASEH2B SOX9 COL3A1 EDA SUZ12 EBP HNRNPK LETM1 SOST DPF2 CENPE ARID1B NRAS CEP57 KDF1 RPS15A CHRNG ADAT3 ZMPSTE24 EDARADD PKHD1 MEIS2 FOXC1 BMPER LRP4 C12orf57 PAX3 ERF NSD2 ERCC4 B9D2 FGFR3 PDE4D ATRIP ALX4 WDPCP FAM20C AP4M1 RPL18 PTF1A GLB1 HESX1 RPS27 RPS7 SNAP29 COL1A2 GHR CENPJ TSR2 ASPH ADAR VPS13B IFIH1 GLI2 CPLX1 CREBBP MN1 LMBR1 FOXA2 TBL1XR1 NFKBIA ATP7A BUB1B ALG9 CSPP1 NALCN CHRNA1 ADA2 TRAIP SOX4 GRIP1 FBXL4 SLC25A24 RPS17 PLK4 ERCC2 POLD1 RMRP RBBP8 ARID1A PEPD LHX4 RPL35 TCTN3 RNASEH2C SMARCE1 POLR3A EFNB1 NSD1 GABRD RECQL4 RPL35A EFEMP2 BUB1 SATB2 RPL10 ITGA8 RPL31 RPL15 TFAP2B MKS1 ARID2 OTX2 TMEM231 RPS19 TMEM107 PRKAR1A NBN RPL27 PRMT7 SETD2 RET POU1F1 WDR73 HP_CONCAVE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NASAL_RIDGE KDF1 SHANK3 RECQL4 FBXL4 NFKBIA SOST IGF1 EBP FOXC1 HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY DOCK8 CCDC47 MPLKIP LBR RAG1 SCN11A DSG1 IL17F EDAR BLNK JAK2 ESR1 EPB42 MVK CD79A LYZ IL36RN STAT3 TP63 SUOX RNASEH2C MEFV IRF2BP2 APOA1 IL12A-AS1 CTLA4 SLC6A19 PDGFRA PCCB FOXN1 FLI1 GPR35 ELANE THPO ZAP70 RAG2 PKP1 ADA2 FLG2 KRT14 KRT5 HSD3B2 GNA11 BTK CCR1 ITGA6 BAAT TTC7A KANSL1 IL6 KLRC4 STX3 SRD5A3 SHOC2 PSTPIP1 NCF4 ATP8B1 TCF4 RUNX1 LPIN2 DCLRE1C ERCC3 TMC6 NOD2 NLRP3 SHANK3 GJA1 RNF113A SMARCA2 CYBC1 CACNA1G CHST14 KIT HSPA9 KRT16 GINS1 MYSM1 PCCA LACC1 CERS3 CD3G ACADVL TREX1 NSMCE3 AGA IL10RB C4A MNX1 ARVCF ABCA12 NFKB2 TFRC MST1 TRPM1 SPINK5 DSE LYST LAMB3 FLG KRT10 PLA2G7 TAF1 TEK PIK3CA SCN10A MPL IL2RG B2M PTPN22 MMP1 TNFAIP3 SPP1 VEGFC RNASEH2B HLA-DPB1 NRAS RFXAP ERCC2 ERCC4 HSD3B7 ANK1 MBTPS2 CARD11 UFD1 C5 FAS SH3PXD2B RFXANK RAC1 TGM1 IL12A SPIB NLRC4 CD3D GPC1 FCGR2B FLT4 WIPF1 CTSB SRP54 LMBRD1 NCF2 MEIS2 TET2 TRAF3IP2 FOXP1 ALOX12B CARD14 TGFB1 CD3E NCF1 KRT9 CSTA ATP2A2 MSMO1 COMT PNPLA1 CIB1 SCNN1G STAT4 WAS RMRP PRKACA JMJD1C IL23R DCDC2 CFI FERMT3 ERAP1 ENPP1 TRPV3 AUTS2 COL7A1 HIRA BTD ADAR GJC2 LAMC2 IFIH1 NCSTN KDF1 TBX1 GJB4 NEK9 NSUN2 JAK3 H6PD GJB3 SBDS HPGD DNAJC21 ECM1 TJP2 IGLL1 IRAK1 EPOR PRTN3 CYBB GSN TCIRG1 SMARCAD1 HLA-B FECH TARS1 SULT2B1 FOXP3 IL12RB1 RNU4ATAC SLC4A1 ABCB4 CLEC7A POLR3A IL17RA CCBE1 MMEL1 PSMB4 CIITA ABCC6 COL5A2 FGA IRF5 IL2RA NIPAL4 HDAC4 SEC24C PAH ADA PEPD MS4A2 PRMT7 FGFR2 XYLT1 TNFRSF1B LIPN STAT1 SCNN1B SMARCC2 SDR9C7 NLRP12 MYD88 CYBA CBL MVD SDHB WNT4 GLUL RTTN SPTB KRT17 IL17RC LHCGR SCNN1A EPHX1 IL31RA RIPK1 SLCO2A1 IGHM LAMA3 CYP4F22 GTF2H5 SLC29A3 ADAM17 EDA HLCS TBCK HYOU1 ITGB4 SDHC NFE2L2 IL4R RREB1 ABCB11 TRAF6 SAMHD1 NAXD HLA-C PMVK GPR101 BTNL2 HLA-DRB1 KRT1 GTF2E2 MYO5B GPNMB ZNF341 MSN CD28 LIG4 CARD9 IL7R GJB2 AQP5 CTSC AIP SP110 POMP TNFRSF1A UBAC2 PIGA PTPRC SCN9A MORC2 IKBKG MTHFD1 SLC39A4 CARMIL2 UBE2A SLC17A9 EGFR TMC8 AP1S3 POLE BCL11B EXTL3 HLA-DRA GJB6 AK2 ASXL1 TNPO3 ALOXE3 HLA-DPA1 LRRC8A EBP GP1BB TLR4 CYP7B1 DSP FAM111B GFI1 MC1R ERCC5 PSMB9 RBCK1 PSEN1 EDARADD CD247 CASP10 EPG5 ATP7B XIAP DNASE1L3 DHCR7 RBP4 IL10 BRAF MIF AIRE MBL2 OSMR POU2AF1 UROS COX4I2 FH RFX5 ADAMTS3 CDH23 COL5A1 FOXC2 PGM3 PTPN3 CD79B CHD7 MPDU1 CASR SRSF2 PSENEN POR DSG4 NFKB1 IL10RA KIF11 STING1 COL1A1 ZNF750 SIK3 NR3C1 KDSR SPTA1 RBM8A DNASE1 DDX41 IL6ST FERMT1 TCF3 PIK3R1 IL1RN CDK10 FDPS GATA3 LIPA CDSN AP1B1 RNASEH2A TGM5 SDHA HLA-DQB1 CASP8 TKT TNFSF15 MCCC2 FCGR2A FAT4 GATA1 USP8 SLC30A2 EFL1 IL7 PAPSS2 HP_ABNORMALITY_OF_EPIDERMAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EPIDERMAL_MORPHOLOGY IL7R TGM1 KDSR SMARCAD1 DSP NLRP1 DSG1 SULT2B1 KIF11 ZMPSTE24 POGLUT1 ATP2C1 CARD14 IL36RN KRT6C NIPAL4 ABCC6 ALOXE3 PPP2R3C IKZF1 KRT1 ATP2A2 ELOVL4 CSTA MBTPS2 XYLT1 CHST8 IL1RN KRT13 CARMIL2 EGFR GRHL2 RNF168 CDSN LIPN OSMR GJA1 TGM5 EXPH5 CYP26C1 SERPINB8 WNT10A CLDN1 KRT2 ENPP1 JUP PKP1 CAST DCAF17 AKT1 CASP14 KRT10 HLA-B SERPINB7 CIB1 CYP4F22 LMNA XYLT2 CERS3 MPDU1 AAGAB SAMHD1 GJB3 ALOX12B HP_ABNORMALITY_OF_DERMAL_MELANOSOMES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES MYO5A GPR143 RAB27A LYST AP3B1 HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION SMARCB1 NSMCE3 BAP1 SUFU RNF168 PDGFB MRE11 PIK3CA TERT AKT1 SMO SMARCE1 NF2 TRAF7 HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY TWIST1 KRT14 SMARCAL1 CTBP1 ELMO2 EDARADD MTAP RAG1 DSG1 INSR FRMD4A FRG1 IL17F AMMECR1 KCNAB2 ARHGAP31 TCOF1 RAB3GAP1 HEPHL1 CLP1 UBE3B SOST MOGS FLI1 NDUFS7 TMEM138 DYNC2LI1 RAG2 PKP1 SPRY4 FZD6 STAT3 TACR3 CHMP1A NSD1 FGFR3 FGF17 PUS7 CACNA1G KMT2A GNA11 SHOC2 HCCS TERT SF3B4 COL11A2 NR5A1 TTC7A DSP BPTF LAMC2 SEC23A B9D1 KCNK4 FGFR1 GAN NECTIN1 ROR2 XRCC4 BMP15 BSCL2 HPS4 LMNB2 KIT IFT43 ESCO2 TCTN2 PHYH MRAS FTL CST6 MITF GNRHR CHRNG BCOR KMT2D WDR11 BBS4 HGSNAT NFIX KRT5 ANTXR2 ARL3 ABCA12 FOXC2 KRT25 PEX7 LYST BRF1 NDUFV1 FBXO11 FAR1 RAB18 PHGDH EDNRB EVC2 TBC1D20 DICER1 MMP1 SALL4 SDHA SRD5A3 CDSN MAGEL2 LETM1 NUP107 KIAA0586 SNORD115-1 CTC1 RAC1 TGM1 ATP6V1B2 KITLG FLT4 SLC9A6 RAF1 PPP2R5D EP300 HFE CARD14 ALX3 IRF6 ANKRD11 DEAF1 SIN3A CUL7 PDE4D MMP2 ACTG2 PIGP FGFR2 NPR2 SRD5A2 ERCC3 ITGA3 ATP6V0A2 USP8 NANS SOS2 DMPK BTD BCR CEP41 RBM28 GJC2 RETREG1 SOX10 CRIPT STAG2 CREBBP OTUD6B MN1 UGP2 DNAJC21 SMCHD1 PREPL DUSP6 IRAK1 MEN1 EZH2 MT-ND6 TMCO1 NSD2 FREM1 CHRNA7 ZMPSTE24 MED12 NBAS PPP2R1A FOXP3 RTEL1 VPS13B COL7A1 KCNA1 AR SMARCE1 MTFMT TERC MEOX1 NAA10 HECW2 XYLT2 HUWE1 PIGN RPL10 NDUFAF3 RIT1 NOG NIPAL4 PTEN TRAIP ST14 PSMC3IP TUBB LMNA CDC45 XYLT1 CLDN1 DSC3 CYB5R3 PRKAR1A LRP4 APC NUS1 BCL11B ERCC4 KRT6A CWF19L1 RECQL4 SLURP1 DNMT3A KISS1R POU1F1 PDE6D PAH CAMKMT PLEC ABCC9 WNT4 PRDM5 FLRT3 ACSL4 MYO18B KEAP1 STXBP1 CHD1 CDH3 A2ML1 MC1R SMARCD1 NUP188 MT-TF PADI3 RPS6KA3 ALMS1 CCDC28B PIGL CYP4F22 PRDM16 FZD2 EDA CTNNB1 HLCS TBCK PROP1 ITGB4 CANT1 COLEC11 UROS KANK2 MBTPS2 COG4 TMEM237 HOXA13 GJB6 TSC2 TRAF6 TUBGCP4 WASHC5 SCN2A GTF2H5 ABCD1 EOGT ACTB GLI3 TRMT10A MYO5A NXN BLM MKS1 APCDD1 NAGLU MAN2B1 CTSC SRY SMARCB1 PPP2R3C SLC25A24 DLX3 AEBP1 CTNND1 RIPK4 COX10 LRP2 MAB21L2 FLNA PTPN22 EDN3 CCBE1 DOCK7 KRT86 GATA4 WDPCP ATP7A TWIST2 EXOSC2 TBX4 UBR1 EBP KCTD1 BBS12 CERT1 TACO1 KDF1 NLRP1 KLLN OCA2 PCNT LAMA3 SLC17A5 ADAT3 MSX1 LIG4 IDUA IFT27 INPP5E WDR19 ALG3 SMC3 EPG5 HRAS MAP2K2 NDUFV2 WDR26 BRAF CRKL CDK4 GRHL2 SRA1 BBS7 CDK13 UQCRFS1 COLEC10 GJB2 CBS PIGO RPS23 DKC1 CENPJ PLCD1 RLIM ADAMTS3 TRPS1 CDH23 CAST OAT SOX9 CDC42 TMEM67 PITX1 TBL1XR1 NECTIN4 DPH1 OFD1 SETD5 COL11A1 IL7R LZTR1 CCDC22 COL14A1 BMP4 IL2RG ALOX12B DSG4 NFKB1 KIF11 TINF2 WNT5A TYR TFAP2B MGAT2 CNTNAP2 PARN ASXL2 KDM5C SLC6A17 KDSR DHX37 PIGW NR0B1 DMRT3 CDK10 PERP HLA-DRB1 COL2A1 GNRH1 AHI1 RRAS ZSWIM6 IARS2 FAS TP63 IFT172 CUL4B NDUFB11 CYP11B1 HSPG2 MAB21L1 MCCC2 GJA1 GPRASP2 IHH GTF2E2 FAT4 ANTXR1 WNT10A KDM6A TBX3 B4GALT7 ACAN SNX14 PPM1D SMS NHP2 PIGY NDUFS1 PDGFRB TMEM231 LIMK1 LIPT1 PRRX1 RPS28 KIFBP AFF4 FSHR SURF1 FSHB MAPRE2 CCNK SLC6A9 ARL6 KRT1 ELN NDUFS8 CTSK KRT74 DPM2 LPAR6 TSC1 FGFRL1 FUT8 HSD3B2 IFT122 DTNBP1 NRAS CHST3 ATR NSDHL XPC KANSL1 COL17A1 ERCC8 GATA1 SMARCD2 TBX15 HMGA2 HPD MT-TQ POLR1D SPECC1L RPL21 MTOR SRCAP TBCD KRT6B KRT16 DOCK6 ZC4H2 MGMT CTCF OTX2 FRAS1 PLAGL1 RPGRIP1L DLL4 RERE UQCC2 NDN MAPK1 MASP1 SPINK5 EXT1 CTU2 LRPPRC ASPM ABHD5 FOS CPLANE1 RAI1 SPP1 VEGFC WNT7A ARMC5 TREX1 STAMBP LEMD3 DCAF17 PPARG BMP1 TMEM216 ASXL3 LMX1B TECPR2 HNRNPK MT-TH TCHH PIGV HGD DMXL2 FLNB CDH11 GTPBP2 CC2D2A BBS10 LIPH ACD STN1 RAB3GAP2 NDUFA12 BBS9 ITGA6 ATP2A2 PNPLA1 FUCA1 SKIV2L HESX1 WNK1 ACVR1 LZTFL1 VDR ERCC6 TRPV3 CDKL5 NELFA SYT1 CD151 MT-CO1 GJB4 NSUN2 FOXL2 GJB3 TRRAP PCSK1 EMC1 WDR35 DPM1 ZNF469 ZEB2 SNAI2 TARS1 BMP2 COX15 SULT2B1 ALX4 AHCY TUBGCP6 SMARCAD1 LHX4 PIK3C2A NTRK1 CAV1 IL17RA EFNB1 BNC1 ERCC2 SEMA3E MT-CO2 RAB27A CDKN2B UMPS USP9X INTU HDAC4 PPM1B DOLK CTNS FGF8 PYCR2 ARX LAMB3 MRPS22 SON SLC24A5 SATB2 NDUFAF6 PPP1CB ARID1A TYRP1 ABCA5 NOP10 LSS GDF6 CDH1 MAP3K1 FGF9 SLC39A4 WWOX KRAS DLX5 COX7B PYCR1 SETD2 ABCA1 GNE SLC29A3 ADAM17 CSPP1 AUTS2 POLR3B SCARF2 PROK2 ECE1 UBE2A PEX6 CHD7 ADAMTS2 GPR101 EPS8L3 FERMT1 SPRED1 PHF8 TCF12 SHOX SUCLA2 KCNH1 HDAC8 NIPBL YY1 ASXL1 KIAA0556 AIP HTRA1 NDUFAF5 RUSC2 GABBR2 APC2 EDAR PIGA AIFM1 FGF3 AP1S3 PTDSS1 WAC HLA-DRA SNX10 CBL TRIM8 ALOXE3 HERC2 NOTCH1 RSPO4 BHLHA9 ADAMTSL2 CYFIP2 THOC6 TRAF3IP2 CEP290 ZNF423 DPF2 CENPE VPS33A NOTCH2 MLH1 MBD5 SMOC1 NR3C1 ENG SASH1 XPA ALX1 TAC3 FBN1 PPP1R15B KCNN3 RASA2 GDF5 FOXN1 SPIDR KIF7 EHMT1 KIF1A KIAA0753 KLF13 NOTCH3 ACER3 PQBP1 SLC3A1 KCNJ8 GRIP1 KDM1A TRAPPC9 FOXA2 IFIH1 KAT6B EBF3 AAGAB PAX3 PACS1 PTPN11 CTDP1 MVK NDUFS3 FBXL4 TRIO ERMARD MSH2 PEPD SOX18 CLMP TGDS IL17RD VAC14 FHL1 SCN9A PUS1 STUB1 DST BBIP1 SLC35A2 CWC27 HPGD PSAT1 ATRX UROC1 CLEC7A BCS1L EVC HR ERLIN2 EED ALDOA WDR73 AP3B1 PAPSS2 HBA2 WNT10B C15orf41 NKX6-2 CCDC141 SGSH ARID1B KRT81 STK11 GPC3 PNPLA6 EDA2R KISS1 RRAS2 MED25 TTC37 ATM SMO BANF1 MT-ND4 TRIM32 ORC6 SLC7A7 RNF113A SETBP1 SLC45A2 TFAP2A PIGQ GATAD2B CKAP2L EDNRA NEK1 WRN CERS3 DVL1 RAD21 RSPO1 DSTYK KLHL7 ARSB CHUK VARS1 TCTN1 UROD ARHGEF2 TAF1 TERF2IP MPLKIP KRT71 TENT5A NTNG1 CDON HYMAI OCRL SUZ12 TP53 ARL13B ACTL6B AGPAT2 DCLRE1C CEP104 GTF2IRD1 LARP7 MYH3 MLPH COL18A1 BAP1 CSTB GPC4 C12orf57 SUMF1 DNMT3B ARMC9 SNRPN PHF6 CLIP2 STAT4 RMRP PRKACA PLAA POLR3H MAFB PCGF2 SNRPE AKT1 RNF125 CPLX1 TMEM94 GNAO1 SOS1 COG6 GSN TBC1D24 KCNK9 DDB2 FGD1 PLK4 ANAPC1 NDUFA10 TALDO1 RIN2 PIK3R1 PWRN1 LORICRIN CYP17A1 PIBF1 IL2RA ARID2 CACNA1F NDUFA4 SLC35C1 CAVIN1 IGF1R NSMF NBN ITGB6 MT-TL1 POLR3A LIPN SDR9C7 CCDC8 RNU4ATAC DHCR7 IL17RC KRT10 CEP152 NDUFB8 SLC1A4 TCTN3 NF1 ERCC5 BRCA1 NDUFA13 SLCO2A1 AXL B3GALT6 B3GLCT MEF2C BBS5 GNA14 MSTO1 MT-ND1 LAS1L HLA-C RAB7A BCORL1 CHSY1 POMC MACROH2A1 SLC12A6 UBE3A IKBKG TAT MECP2 ANOS1 NFKB2 TCIRG1 ADA DVL3 VPS37A IL11RA BAZ1B MT-TS2 UBA1 CTLA4 POT1 TLK2 ACTG1 KRT85 ZIC1 ZIC2 ZNF711 IFNG SDCCAG8 MAP2K1 KIF15 GNPTAB ATRIP IRX5 ZBTB20 ECEL1 FGF5 AIRE SLC9A7 TAF6 SMC1A PACS2 PUF60 BTNL2 PRKD1 JUP PDHA1 BBS1 POP1 ALG9 CD28 CASR POC1A FLII MAP3K7 PNKP POR SNORD116-1 AXIN2 NDUFS2 RBBP8 C8orf37 NPHP1 ATL1 POMP PHIP MAN1B1 GABRD RET FOXE1 SMARCA4 ATP6V1E1 NFIB HYLS1 PEX1 SCN1B CCDC47 KLHL24 FMR1 LRP1 INPPL1 GNAS IL36RN SUOX LTBP3 COG7 LAMTOR2 STAG1 PWAR1 ECHS1 MED13L PORCN WRAP53 MMP14 TRNT1 RHOA SOX11 PET100 NDUFAF2 ACVRL1 TELO2 DENND5A SHANK3 SCO2 SLC25A22 SMARCA2 MGP HSPA9 MT-CO3 ASL STRADA FAM20C MEGF8 MCTP2 AP3D1 HBA1 AHSG SOX3 IQSEC2 SKI TNFSF11 SZT2 RBPJ MED13 FOXRED1 EXT2 CYB5A DHX30 CLCN7 TBX2 IL1RAPL1 HERC1 MAF HS6ST1 SLC19A3 FLCN RBM10 RFC2 CDKN2A PSMD12 FOXP1 PROKR2 STIM1 KRT9 BBS2 PMPCA KCNMA1 VAMP7 GLB1 CEP120 TTI2 H6PD IDS POLR1C DSC2 COL1A2 MT-ND5 LHB KIF22 ECM1 NFKBIA SOX4 B3GAT3 TGM3 MKKS CSNK2A1 CPT2 SF3B1 NDUFA2 TET2 PIGS CPOX RUNX2 NEUROD2 KRT83 FTO NDUFA9 TNFRSF1B PGAP2 MEIS2 SMARCC2 TTC8 SLC35D1 TRMT1 KRT17 PEX19 LHCGR SHROOM4 ZFPM2 YARS2 GNS HPS5 TSR2 INTS1 GDF3 ADNP NPAP1 SEC23B CDK5 FAM149B1 FIG4 ALDH18A1 CASK ZNF341 CYP19A1 AIMP2 DLX4 NRXN1 MLXIPL COL3A1 FREM2 IGF1 NEK9 UGDH APOE EGFR OBSL1 CHN1 KMT2C BMPR1B SLC45A1 FOXP2 FBXO31 PLOD3 CNBP HPS6 FAM111B LBR SLITRK1 ATP6V1A GTF2I MID1 BMPER IFT52 KCNE5 FEZF1 COG5 NPM1 KREMEN1 SH2B1 LRMDA GLI1 DUX4 GLI2 CSTA MT-TW MKRN3 WT1 ORC1 HPS1 CAMK2G ABCA2 HNRNPU STING1 APTX NDUFS4 SIK1 TBL2 TUBGCP2 KNL1 AP1B1 BTK BLOC1S3 SMAD4 USB1 PGAP3 HOXC13 SPATA5 POLA1 GUSB SLC30A2 CD96 WDR81 HP_SYMPTOMATIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPTOMATIC_SEIZURES STAR TANGO2 MRAP PHKA2 PROP1 HADH GNAS POGZ PHKG2 VDR TNFRSF11A GCM2 STX16 SLC16A1 ABCC8 NNT CYP2R1 TXNRD2 TBX19 MC2R GLUD1 TBCE FAM111A INSR CYP27B1 PCSK1 POMC AKT2 GCK GATA3 HP_DIALEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIALEPTIC_SEIZURE GNB1 PTCHD1 ACSL4 GAMT TANGO2 SCN2A EFHC1 VPS11 CHD2 DMXL2 TICAM1 CLCN4 STXBP1 DNM1 PRRT2 NGLY1 PIGM GABRA1 FTSJ1 FIG4 SLC6A1 NUBPL USP27X PIGT RORB GABRG2 TSC2 UPF3B ARHGEF9 ALDH5A1 SCN1A SRPX2 PNPLA8 CACNB4 RNU4ATAC POGZ SLC2A1 HCN1 GRIN2A LGI1 KCNMA1 ADGRV1 PIGP TSC1 RAB39B HCFC1 GDI1 GABRB3 SCN9A ARHGEF6 STX1B KCNQ3 EPM2A JRK NHLRC1 CLN8 CACNA1H CLCN2 ALG13 DHDDS ATAD3A CXorf56 AGTR2 SMARCA2 CILK1 GABRD SLC35A3 IQSEC2 ACSF3 PAK3 PHGDH CRIPT CPLX1 RELN GAL ATXN10 WDR26 GNAO1 ARX MICAL1 TBC1D24 ZNF41 FMN2 IL1RAPL1 SLC25A22 UNC93B1 CASK EHMT1 TBK1 FRMPD4 PCDH19 PIGQ CSTB GATAD2B PNKP ZNF711 DOCK7 DLG3 DHFR CUX2 KCNT2 SYP SIK1 STRADA SMPD1 KCNA1 DMD SLC9A7 CNKSR2 AP2M1 CDKL5 RPS6KA3 MID2 NFKB2 LAMA2 GLUD1 SZT2 TLR3 NEUROD2 TRAF3 TSPAN7 TRIM8 MTOR SCN1B MECP2 GOSR2 CACNA1D MAPK10 USP9X NEXMIF SON SPATA5 MED12 ZNF81 SLC12A5 HP_MYOCLONIC_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_ABSENCE_SEIZURE CACNA1H GABRB3 DHDDS GABRG2 SLC2A1 GABRA1 JRK HP_FOCAL_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MOTOR_SEIZURE GABRA1 SMS PCDH19 CAMTA1 TMEM231 CLCN4 SDHAF1 KCTD7 TBC1D24 SDHA NGLY1 SCN1B SCN1A PYCR2 SCN9A CACNA1D SIK1 SLC25A22 ATXN10 GABRG2 STXBP1 SLC12A5 KCNQ2 EXTL3 SRPX2 SCN2A SDHB SDHD GRIN2A KCNQ3 HACE1 HP_FOCAL_SENSORY_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SENSORY_SEIZURE PRRT2 EPM2A MICAL1 RELN CNTN2 LGI1 KCNA1 NHLRC1 HP_FOCAL_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MYOCLONIC_SEIZURE PYCR2 CACNA1D SIK1 SLC25A22 CAMTA1 TMEM231 SDHAF1 EXTL3 KCTD7 SDHB SDHD SDHA HACE1 HP_GENERALIZED_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CLONIC_SEIZURE GABRA1 CASK PCDH19 PIGQ PNKP DMXL2 NEUROD2 STXBP1 TRIM8 PSAP SIK1 ACSF3 SCN1A SCN9A KCNA1 ARX GNAO1 DPM2 SCN2A CDKL5 GABRG2 SCN1B SLC25A22 PIGP HP_COMPLEX_FEBRILE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLEX_FEBRILE_SEIZURE SCN9A GABRA1 SCN2A GABRG2 PCDH19 SCN1B STXBP1 COG4 SCN1A HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES GNB1 NSUN2 TNIK GRIN2A DMXL2 LMAN2L STXBP1 DNM1 CRADD GRIK2 PIGT FMN2 GABRG2 ARHGEF9 LINS1 SRPX2 MED13L CHD2 TBC1D24 PIGP ST3GAL5 FRRS1L PRSS12 KDM5B PPP3CA CDKL5 ACTL6B SLC45A1 CARS2 SYT1 PGAP1 COQ2 PIGG GNAO1 MAN1B1 SCN2A RSRC1 ST3GAL3 IQSEC1 CLTCL1 SLC25A22 ZC3H14 CLIP1 SLC35A2 GABRA1 CASK MECP2 PCDH19 PIGQ PNKP PDSS2 MYD88 B3GALNT2 NDST1 DOCK7 DCPS HNMT SIK1 METTL23 WASHC4 SCN9A KCNA1 PIGC FBXO31 MED25 TUSC3 SARS1 GABRB3 AIMP1 CUX2 SCN1A MBOAT7 TRAPPC9 IQSEC2 CC2D1A CLCN4 EDC3 CRBN KCTD7 NEUROD2 MED23 TRIM8 TECR MAPK10 C12orf4 ARX EZR PSAT1 SCN1B SPATA5 FGF12 HP_EEG_WITH_FOCAL_SPIKES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKES SYT1 COQ2 CLCN4 PIGG PDSS2 ARHGEF9 HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES MAPK10 SPATA5 DNM1 CHD2 GABRB3 CUX2 SCN1A HP_EEG_WITH_FOCAL_SHARP_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_WAVES SYT1 PSAT1 SRPX2 TBC1D24 GRIN2A HP_EEG_WITH_FOCAL_SPIKE_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKE_WAVES IQSEC2 GRIN2A GABRG2 TBC1D24 SRPX2 HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES PIGY C9orf72 DNM1 KCNA2 CHD2 GABRG2 SCN3A GRIN2D PPP3CA GABRB2 SLC13A5 MAPT CACNA1B VCP GRN ACTL6B SLC6A1 GRIN2A CYP27A1 CLTC CNKSR2 TMEM106B AP2M1 SLC1A2 ATP6V1A NECAP1 PSEN1 SZT2 FGF12 TREM2 DHDDS SCN8A AARS1 SYNJ1 UBA5 CDKL5 CYFIP2 CHMP2B GABRA5 WWOX ARV1 TRAK1 YWHAG NTRK2 HCN1 SQSTM1 KPTN AP3B2 EEF1A2 KCNB1 SYNGAP1 PARS2 STXBP1 GABRA2 NUS1 CACNA1A HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY C9orf72 GRN TREM2 SQSTM1 TMEM106B CHMP2B PSEN1 VCP MAPT HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT RIPPLY2 PEX14 NOTCH2 ERF PEX11B KAT6B WDR35 METTL23 ZIC1 PEX16 WDR19 IFT52 ADSL HES7 KIF11 LFNG UBE3B SMG9 MOGS RNU4ATAC KIF7 TUBB3 IFT81 MYCN PEX26 FLNB IFT122 TMEM70 CYP2R1 RPS23 TBX6 PEX1 VDR IFT43 PEX5 FLNA ATP7A PEX6 HRAS OTUD6B WASHC5 MESP2 ITCH TBC1D24 DLL3 CYP27B1 PEX19 DPM1 EHMT1 NID1 CCDC22 SLC35A1 NRXN1 CTSK PEX10 MED12 UBE3A MAN2B1 CNTNAP2 SUFU KCNQ1OT1 NRAS PLAGL1 MCTP2 PEX13 PIGA CDKN1C PEX12 TWIST1 PIGN KRAS GLI3 INPPL1 LEMD3 PHGDH TFAP2B ALX4 TAF1 PEX3 KCNQ1 HYMAI PSAT1 IGF2 MAN1B1 OCRL PTCH1 PEX2 SLC34A3 WDR73 SH3PXD2B AMER1 HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION SNX14 FGFR3 LRP4 NPR2 KCNJ1 GJA5 TCIRG1 KIF7 KCNAB2 WDR35 PAFAH1B1 FBN2 FANCL DDX59 FGFR2 EDA2R FLNB CTSK NXN BRIP1 KRAS POLE CBL NSD1 EPB41 IFT122 GJA1 RUNX2 BGN CHRNA7 PTCH1 NCAPG2 SEC23A TBX15 HRAS ROR2 HMGA2 FGFR1 HDAC6 POLR1D SPECC1L CYP27B1 DENND5A SETBP1 RAI1 MMP2 CEP57 MTOR EDARADD GATAD2B IFT43 SLX4 FLI1 PTCH2 PIK3CA DVL1 INPPL1 NRAS BRAF SUFU SOX2 MEGF8 NTNG2 SKI MIR140 UNC80 NFIX BUB3 OFD1 PIGN LARS1 MBD5 SLC26A2 KIAA0586 CKAP2L FANCA RERE TRIP11 KDM1A HBA1 PEX7 IQSEC2 COG4 CHD3 SEC24D XRCC2 ITCH CCDC8 B3GLCT DLX3 CPLANE1 DICER1 LEMD3 LRP5 OCRL EDA UBE2T HERC1 WNT5A HSD17B4 KPTN COL10A1 FANCB MED12 ERF PREPL SMARCD1 PHEX FANCM ERCC4 TRIO SNX10 MEN1 MOCS2 TONSL PPP2R5D DHCR24 C12orf57 EP300 ACAN ANKRD11 EXTL3 DEAF1 CTBP1 CUL7 POR DSE OPHN1 CLCN7 FUCA1 GLB1 TCF20 SOX5 VDR PCGF2 SPTB MED13L BRCA2 NELFA PLA2G6 DVL3 CRIPT PTDSS1 AIP CREBBP POLR1C DDR2 UGP2 KIF22 WDR34 NFKBIA PIK3R1 BRCA1 BUB1B CRPPA PYCR1 RAB39B RNPC3 NSD2 B3GAT3 TRPS1 SIX2 FZD2 MAD2L2 SIX6 SON ALX4 WDR19 GJA8 DYNC2H1 POLR3A EFNB1 RECQL4 BUB1 COL11A1 COL1A2 INTU HDAC4 PPM1B CDKN1C CTNS MAGEL2 ALX1 PDHA1 KIAA0556 COL2A1 SATB2 PALB2 PDE6D P4HB CAMKMT AMER1 LIFR FANCE NALCN GPC6 YWHAE AMACR CHD1 STAG2 TCTN3 IFT80 RFWD3 SPRTN RPS6KA3 GRIN1 MSX2 COL1A1 PTEN GNE PRDM16 CYP2R1 GMNN GNS FLNA INTS1 ZNF148 IFT140 FANCF LBR PTHLH TRIP13 GPR101 RSPRY1 TRIM37 B9D2 ACOX1 GLI3 ALDH18A1 ALG9 NLRP3 NID1 TTC37 FANCG NRXN1 STAT3 MAN2B1 WDR60 LETM1 FANCI APC2 FANCD2 PAK1 EDAR MBTPS2 NEU1 APC PRMT7 SPTA1 BRWD3 OBSL1 NAA10 MAP2K1 UPF3B ATIC GK ZIC1 MOCS1 SMOC1 GYPC TBX4 EBP SOST NONO RAD51 TMEM216 CHST3 FAM149B1 ATP6V0A2 MID1 IFT52 PAM16 SMC3 KYNU PIK3R2 MAP2K2 MPDZ PEX5 PDE4D ANTXR1 PIGL D2HGDH BMPR1A TCOF1 FMR1 KIAA0753 ATAD3A TCF12 FH RAD51C HOXD13 SLC3A1 ALPL TBC1D24 ORC1 WASHC5 FLII CCDC22 HNRNPU POU1F1 FANCC CNTNAP2 TWIST1 ALDH6A1 SIK3 IGF2 TBCE GABRD ADK CSPP1 MITF FBN1 CWC27 IDUA MAN1B1 SETD2 TGFB1 SLC34A3 ARID2 HBA2 HP_SHORT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FACE POLR1D GRHL3 UBB TCOF1 POLR1C RUNX2 HP_PROMINENT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_FOREHEAD ABCC9 GLE1 KMT2E NPR2 KCNJ1 EDAR LRP4 PPP1CB SETBP1 KIF11 SMG9 HERC1 PYCR1 SETD2 TTC7A B3GALT6 COG4 GNE B3GLCT HRAS STAT3 TTC37 CASK FZD2 ALDH18A1 CDKL5 GNS RAF1 USP9X IFT140 SHOC2 TRAF6 LBR SNX14 FAM111A P4HTM PITX2 SPECC1L IGF2 FAM149B1 ERF PRKDC MTOR PDGFRB VPS33A FARSB ASXL1 GPAA1 MAN2B1 CDKN1C UNC80 IGF1 NFIX APC2 NALCN PURA CKAP2L KDM6B KDM1A LRPPRC ADAT3 BRWD3 MAB21L2 ASXL3 UPF3B CHD3 TAF1 WAC ATIC ZSWIM6 COL27A1 SUZ12 SMOC1 ACTL6B RPS6KA3 PMM2 LARP7 ARX FLNA SH3PXD2B MED12 ADNP NRAS CHST3 KDF1 FLNB EDARADD MID1 INPP5E PPP2R5D DHCR24 PAM16 FOXP1 EXT2 GCDH DPF2 ARNT2 DVL1 PEX5 LMNA OPHN1 BRAF PIGL IFT81 FUCA1 D2HGDH SKIV2L IARS2 ZBTB18 CDC42 ITGA3 GPC4 DPH1 NANS MED13L PUF60 CCND2 PLA2G6 DVL3 PRKD1 PTDSS1 FOXC1 MN1 TRRAP MBTPS1 PIK3R1 EBF3 RYR1 SCYL2 POC1A B3GAT3 POU1F1 WNT5A SERPINH1 FBN1 RMRP SP7 ERMARD MYH3 KIDINS220 CPT2 TBCE NSD1 NAA10 HECW2 EFEMP2 DYNC1H1 SUMF1 PEPD KIF7 SKI TAPT1 ZMPSTE24 KPTN PRMT7 SON COL2A1 TRIP11 AP1S2 AMER1 HP_APLASIA_HYPOPLASIA_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID SF3B4 CDH11 FREM2 RNASEH2A PHGDH TCOF1 EDNRA KRAS FLI1 GRIP1 TXNL4A FRAS1 TWIST1 ADAR TWIST2 POLR1C ALX1 RNASEH2B IFIH1 DHODH TREX1 SLC25A24 SEMA3E FREM1 SAMHD1 RNASEH2C CHD7 KCTD1 ESCO2 POLR1D RIPK4 FGFR1 ADNP CCNQ HP_ELEVATED_C_REACTIVE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_C_REACTIVE_PROTEIN_LEVEL ANKRD55 PRSS2 TBK1 IL2RA CASR CD247 TICAM1 STAT4 TLR3 TRAF3 IL6 NLRP3 PTPN2 IL2RB HLA-DRB1 HLA-DPB1 PTPN22 SPINK1 CTRC LACC1 HLA-DPA1 TNFRSF1A CTLA4 PRSS1 PRTN3 CPA1 MIF UNC93B1 NLRP12 CFTR HP_HORIZONTAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_EYEBROW SYT1 SKI FOXP2 KCNK4 RERE GABRD KCNAB2 TRAPPC9 MED13L EBF3 DEAF1 INTS1 PRDM16 HP_BROAD_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_EYEBROW KCNK9 PYCR2 ZEB2 CHD1 TRMT1 MAF MAN1B1 HERC1 SON SPATA5 POLR3A RERE POLA1 HP_MICROTIA_THIRD_DEGREE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROTIA_THIRD_DEGREE CDC6 CDT1 TCTN3 ORC6 ORC4 TWIST2 ORC1 CDC45 GMNN FANCB HP_ANISOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCYTOSIS KIF23 G6PD CDAN1 NHLRC2 TRNT1 GATA1 GLRX5 RHAG PKLR C15orf41 RPS14 UMPS ACTN1 CASK TMPRSS6 HP_RECURRENT_MYCOBACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS IL12RB1 DCLRE1C ZAP70 GATA2 TYK2 STAT1 ISG15 CYBB IFNGR1 IFNGR2 HP_VASCULAR_SKIN_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_SKIN_ABNORMALITY STIM1 KRT14 PIGY GDF2 ELMO2 ATRX LRP1 LBR MTAP IL17F F7 KCNAB2 ARHGAP31 GNAS ARID1B PTEN IL36RN STAT5B XPA NOTCH3 LIG4 ITGA2B CASP10 CTLA4 COL1A2 TERT DDX11 LORICRIN CTSB PORCN GPR35 CD81 GNAQ PKP1 WRAP53 SMC1A ADA2 KRT5 ATM DTNBP1 HCCS ATR GLA ITGB3 SERPING1 PCNA MT-ND4 CCR6 PROC NSDHL XPC SOX11 RNF213 AEBP1 ATP7A GATA1 EPHB4 CFH ACVRL1 TNFRSF13B HLA-B TCF4 MT-TQ F5 PROS1 BCOR ERCC3 TMC6 MYH11 PLCG2 NLRP3 NDUFS2 COL1A1 HPS3 GJA1 IRF2BP2 SH2B3 SLC37A4 ADGRE2 CHST14 KIT PLEC HPS4 MYD88 LMAN1 KRT16 DOCK6 GP1BA F2 OCLN NFIX WRN PIK3CA IRF5 FASLG MT-CO3 TREX1 AGA KIAA0319L NBEAL2 RAD21 F12 GP1BB DAXX AKT3 ERCC2 NOD2 ARVCF NUMA1 DLL4 PSMB8 C1R MYH9 CLCN7 MST1 MASP1 SPINK5 DSE HBA1 LYST SKI TNFSF11 SDHC RBPJ XPR1 CCM2 SCN10A PLAU PDGFRB FAS COL5A2 RNASEH2B ARMC5 HLA-DPB1 PPARG ERCC4 SCN11A TINF2 F13A1 NPM1 APOE MT-ND5 MBTPS2 LARP7 UFD1 STAG1 CDKN2C MT-TH PIGV CTC1 SPIB ICOS C2 ETHE1 FANCE WIPF1 KCNQ2 CAV1 ZMPSTE24 XRCC4 SLC39A13 SMAD3 TET2 STN1 KRT9 LMNA CSTA NABP1 ACTA2 ELN COMT VWF CIB1 IFNG WAS FUCA1 HLA-DRB1 GLB1 PRKACA JMJD1C MT-ATP6 FERMT3 RAB27A ITGA3 ENPP1 SMAD4 CALR P2RY12 WNT10A ATP6V0A2 USP8 NOTCH1 HIRA ADAR AKT1 STXBP1 IFIH1 FBN1 FLNA MT-CO1 GGCX TBL1XR1 GJB4 PTDSS1 NSUN2 TGFBR1 CFHR1 CTSA GJB3 NFIA PRKAR1A SEC23B SERPINF2 PRTN3 PYCR1 DPM1 GSN MT-ND6 KDSR SLC35A1 SOX4 FECH KRT10 JAK2 BMP2 MT-ND4L DDB2 F10 TRPV3 FKBP14 MEFV COL5A1 ANAPC1 FOXP3 IL12RB1 SDHB ARID1A TALDO1 RIN2 ERCC6 RNASEH2C AIP SMARCE1 POLR3A TGFBR2 IL17RA ELOVL4 TBX1 MMEL1 PPP1R15B KMT2A MYLK ABCC6 ALDH3A2 MT-CO2 AGXT BLM ABL1 TNXB CR2 ARID2 SEC24C PDSS1 NFKB2 ANKRD26 PEPD F13B FTO PDGFB GP6 PRKCD RECQL4 CDKN2B TNFRSF1B MT-TL1 HDAC8 FLT4 PGAP2 BMPR2 RASA1 SDHD UVSSA NLRP12 DHCR7 PRDM5 NAGA SMARCC2 IL17RC NOP10 MT-CYB SMARCD1 TGFB3 TGFB2 MT-TF ERCC5 SLURP1 PIGL COX7B C4A ETV6 NIPBL SAMD9 COG4 PML SLC29A3 GFI1B CDKN1B PRDM16 PIGT ARX COG8 ADAM17 GNA14 PLOD1 PDCD10 PRF1 TRPM4 MANBA SCARB2 HFE HPS5 MT-ND1 CD19 ORAI1 KRT2 RREB1 RUNX1 SAMHD1 ADAMTS2 GP9 EOGT FERMT1 SMC3 TGM5 MEN1 USP18 TNFRSF13C ITGA2 ALDH18A1 FANCC F8 MYORG CD28 ZNF469 RERE ZBTB16 STAT3 GJB2 C1S ANTXR2 AQP5 SLC2A10 IKBKG PRKG1 FCGR2C SMARCB1 COL3A1 ALOXE3 PEX6 SOX18 TNFRSF1A IKZF1 NEU1 ACP5 SLFN14 RARA TCIRG1 SLC39A4 TMC8 LIPN TFR2 RTEL1 MT-TS2 VHL GJB6 SNX10 SMARCA4 FIP1L1 TNPO3 TGM1 HLA-DPA1 GBA MPL CDKN1A PLOD3 POLH TRAF3IP2 HPS6 DSP DPF2 ATP6V1A FANCD2 HPGD SULT2B1 KLLN SBDS ENG NFKB1 MVK LMX1B PRKACG MFAP5 ATP7B DNASE1L3 RNF113A GNPTAB MS4A1 LOX RASGRP1 XPNPEP2 ANTXR1 MT-ND2 RNF168 SF3B4 POU2AF1 CBS PIGO SLC52A2 KRT1 EPHB2 FRG1 CDH23 SCN9A PTPN22 EBP MT-TW PGM3 GATA2 POLE TBXA2R TERC KRT83 IL12A HPS1 SETD5 CPN1 CYLD DSG4 STING1 ATP2C1 GUCY1A1 CCN2 PARN ARL6IP6 SIK3 POLD1 PIGW AP1S1 GABRD SLC20A2 SETX HOXA11 USF3 TNFSF12 CDSN ATP6V1E1 FANCA RNASEH2A PERP PDE11A HLA-DQB1 NHP2 CD109 BLOC1S3 RHOH MAT2A USB1 NDUFB11 KRIT1 CLEC7A TNFSF15 PGAP3 MRE11 FOXE3 DKC1 MCFD2 JAM2 RPS6KA3 CFHR3 IL7 HBA2 ALOX12B HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY GATM MICOS13 SMARCAL1 SLC34A1 BCS1L SDCCAG8 KCNJ1 INSR ELP1 TSC2 IL17F AMMECR1 FKRP FAN1 SGSH CLCN5 NF1 SLC36A2 MEFV CD59 CASP10 CTLA4 KCNJ11 OGDH CC2D2A BRIP1 HOGA1 ATRX GPR35 FGF23 TMEM138 GATA3 RAG2 SLC9A3R1 YAP1 CYP11B2 FXYD2 GNA11 MTRR MCCC2 GLA REN CCR1 PIEZO1 MT-ND4 CCR6 GPC3 SLC6A19 FAH NDUFS3 AUH NUP133 PHOX2B MCEE STX3 LMO1 TRIM32 CFH GRHPR TCF4 BCOR MT-TK MOCOS ERBB2 NPHS1 CFI SLC7A7 HRAS INS GBA EGF RPIA IRF2BP2 HIBCH SLC35A2 SLC37A4 L2HGDH MT-TT XDH CLCNKB BSCL2 CPS1 GNAS LMNB2 SUGCT PDSS2 IFT43 GALNT3 PHYH SLX4 PCCA CLDN16 NUP107 OCLN PFKM WT1 CASK GLB1 INPPL1 NUP93 GCM2 TIMM50 COX8A BBS4 NRAS SLC19A2 AGA POU6F2 RAD21 HGSNAT C4A SERAC1 MNX1 MARS1 IL6 INF2 AQP2 SCARB2 SLC25A20 FCGR2A FANCA ABCA12 RET ATP5F1D MST1 NDUFS6 ARSB NPHS2 SLC2A2 GEMIN4 SLC25A11 SCNN1A XRCC2 WDR19 OFD1 FAM20A B2M OCRL TP53 LZTFL1 AGPAT2 ATAD3A DCLRE1C NPHP1 ACAT1 PMM2 GTF2IRD1 MT-ND5 IFT80 NDUFS8 NDUFAF3 FANCB FAS TMEM126B SLC22A12 RFXANK SDHD SEC61A1 LPIN2 FANCM ETHE1 IRF5 GPC1 ERCC6 WIPF1 DLST COX6B1 MTR CPT1A TK2 LMBRD1 HBB GANAB PKHD1 COX14 ATP7B MUC1 HPSE2 SLC5A2 SUMF1 DGUOK COL4A3 SDHB GNAS-AS1 CLIP2 GCK COG6 PYGM DCDC2 XYLT1 STAT4 SLC4A1 HLA-DRB1 WAS GP1BA FGFR2 RMRP ZFP57 SLITRK6 IL23R SIX1 DIS3L2 ERAP1 ITGA3 NDUFS2 SMAD4 MAFB NDUFV1 PEX5 NEU1 ENPP1 BICC1 CFHR5 BCR PCK1 TGM1 PAX6 WFS1 CFHR1 OTC PLG OPA3 PKD1 PGAM2 PREPL ACADM IRAK1 CHRM3 CYP24A1 MDH2 GSN MT-ND6 DNMT3A G6PD PPOX HLA-B FBP1 IL2RB MT-TL1 NAGA HMGCL MAD2L2 DDB2 SLC6A20 PAX4 IQCB1 FOXP3 PLAGL1 PRKCD HNF1A TANGO2 ADAMTS13 PRDX1 BTK MT-ND3 ARL3 ALPL SLC12A1 NDUFB3 CLDN19 PBX1 KMT2A COL4A1 OXCT1 PIGT TTC21B AGXT ALK LAMB2 H19 LEMD3 FGA PYGL IRF1 BBS10 ACAD9 MMUT ERCC4 C3 PIK3CA MMADHC KIF1B ACTN4 IFT122 ADA2 HDAC8 PALB2 LIPN NDUFS7 THOC6 PAH SDR9C7 CAMKMT STK11 BCKDHB ACSL4 TREX1 VHL ABCC8 IL17RC IFT172 NDUFB8 SLC34A3 DMD EIF2AK3 NGLY1 NPHP3 ABCC6 TACO1 NEK8 CASR MT-TF ERCC5 ALMS1 C1QA GUSB KRAS TRPC6 CLCNKA ATP6V0A4 AVPR2 GCDH CYP4F22 SALL1 PIGA F2 AP2S1 BBS5 SLC7A9 HLCS WASF1 MANBA ITGB4 DHX37 PLOD2 UROS MT-ND1 ATPAF2 SLC26A4 APRT GDNF ALDOB IFT140 HOXA13 CAD MT-TE LAGE3 COQ2 HNF1B ATP1A1 CFTR SLC5A1 COX10 C1QBP PHKA1 PC CYB561 THBD F5 LRIG2 HAL SLC25A1 TCN2 HTRA2 NDUFS1 ITGA2 LIG4 MKS1 GALNS NUP205 COG1 ZBTB16 NAGLU COA8 SRY FLT1 CFB ACADL HNF4A FANCD2 MMACHC ADCY10 HCFC1 CYP11A1 LRP2 ADA GLDC PLCE1 PTPN22 KYNU BAZ1B FLAD1 MT-TS2 PAFAH1B1 KRT8 GK BCKDHA CDC73 APC GATA4 WDPCP ATP7A F8 ASS1 COL4A5 KCTD1 TRIM28 ITGB3 HPD CLPB BBS12 CAVIN1 SLC12A3 KLF6 MVK TNXB ACSF3 RAD51 EMP2 GLYCTK GALT NPHP4 JAG1 HYAL1 ANO5 COL4A4 SLC17A5 IFT27 HFE STAT1 ERCC3 TBX18 YWHAE EHHADH HADHB GLIS2 TNFRSF11A UMOD POLG UROC1 CRKL NDUFA6 BBS7 SNAP29 RFX5 CEP164 HMOX1 FH RAD51C NDUFS4 BTNL2 FOXC2 OAT DNAJC19 TNFRSF11B SOX9 PGM3 KANK2 NDUFA1 SLC3A1 TBC1D24 CHD7 BBS1 NDUFA11 MPC1 CYP27B1 RPGRIP1L SETD5 TRAIP APPL1 IL2RG COQ8B ALOX12B DDOST TSC1 HMBS SLC16A12 HIC1 C8orf37 GP1BB DLD SERPINF2 KRT18 HELLPAR WDR34 PEX7 GATA6 NR0B1 DMRT3 ATP5F1E NDUFB9 WDR73 CSPP1 CBS MT-TV SLC25A19 KCNJ10 SCNN1G CD46 TAT KCNJ5 HPRT1 SPINK5 CYP2R1 CYP11B1 IFIH1 GALE AMT MRPS2 CCN2 SLC30A9 SLC26A1 CTH CFHR3 NOS3 OSGEP NUBPL SNX14 DYNC2LI1 TMEM231 LIMK1 ALDH4A1 TTR PDX1 SUCLA2 STS STAR LPIN1 FANCL MAGI2 LYZ STAT5B MT-ND2 KLF11 SUOX SIX5 ELN APOA1 IL12A-AS1 NADK2 GSS NUP160 PCCB PNP STAT3 HSD3B2 TRNT1 WDR4 SAA1 HADH DBH CDK4 ITGA6 ZNF592 XPC NDUFV2 KLRC4 ERCC8 CRB2 PSTPIP1 MT-TQ XYLT2 GCLC NLRP3 CEP290 AGK SHANK3 SCO2 NDUFB11 DSTYK ITGA8 MRAP FOXI1 VPS33A CA2 HSPA9 SLC6A18 MYD88 LMAN1 PEX1 GYS2 DZIP1L MAN2B1 TIMMDC1 NDUFAF8 NDUFB10 TMEM70 FASLG MT-CO3 ASL MTHFR LDHD CDKN1C SDHA MIR140 CORIN AGGF1 NOD2 NUMA1 KIAA0586 CA5A INVS UQCC2 OPLAH MAPK1 EXT1 AGTR1 FOXRED1 TGFB1 SLC1A1 VPS33B MAPKBP1 NDUFAF4 FOS CISD2 PTPRO PUS3 PAX2 GNPTAB SPP1 TRAF3IP1 HLA-DPB1 ZAP70 RFXAP UBE2T TMEM216 DHDDS BNC2 SLC25A4 MEN1 LMX1B NPM1 SMC1A PPARG MT-TH HGD EFEMP2 PRODH MYH9 IL12A PHEX SLC52A2 RFC2 FCGR2B MCCC1 REST MMAA SGPL1 MOCS2 CAV1 IDUA TOP2A EYA1 ALAD BBS9 CD2AP DNASE1L3 LMNA GALK1 NABP1 BBS2 VAMP7 ALG1 SLC25A15 FUCA1 COA3 VANGL1 G6PC SUCLG1 IVD NEUROD1 C1QC PKD2 UMPS TRIP13 DNAJB11 CTNS BRCA2 CACNA1S CD151 MT-CO1 TBL1XR1 CCND1 IDS BRCA1 RYR1 CLDN10 PRTN3 ATP6V1B1 WDR35 EPG5 EHMT1 SLC35A1 CNNM2 ETFDH PLVAP PNPLA6 NR5A1 SULT2B1 F10 STX16 MKKS YY1AP1 NDUFAF2 LCAT ARG1 PIK3C2A TMEM67 POLR3A CPT2 IL17RA COQ6 MT-TW SPRY2 ERCC2 ARL6 TRPS1 MT-CO2 STOX1 COX20 KCNJ18 GPHN NT5C3A PPM1B MAX MUTYH COL7A1 HSD11B2 SLC25A21 TPRKB ISL1 RAG1 CEP120 TTC8 FANCE SCO1 NDUFAF5 TMEM237 NOTCH2 DHTKD1 SDHAF2 PEX19 CD81 CHST14 RFWD3 PGK1 MAP3K1 ASPA ZFPM2 MDM2 WWOX SURF1 LHX1 TMEM127 PET100 NIPBL SAMD9 DBT PML CHD4 SCNN1B ACE RRM2B FBLN5 WDR60 GNS ACVRL1 BLK SDHC BLVRA FANCF ADNP NUP85 TP53RK ITGA2B FIG4 SMC3 LIN28B MAGED2 MYO5B GCSH ANLN IDH2 XPNPEP3 SGCB MSN TTC37 FANCG FUZ IL7R NIPAL4 MLXIPL TAZ APOE MT-ATP6 FARS2 FANCI IKZF1 UBAC2 TP63 ABCC2 RARA AGT EPAS1 CRPPA GLUD1 DGKE NSMCE2 APOL1 FIP1L1 ISCU ETFA TXNRD2 MOCS1 ALOXE3 MT-TN HLA-DPA1 SLC46A1 IER3IP1 SHPK SLC52A1 TLR4 SLC25A13 TRAF3IP2 RMND1 DMP1 ZNF423 FMO3 CYP21A2 MAF DYNC2H1 SLC4A4 DACT1 COPA NNT ETFB TBC1D8B INPP5E ACADS MYCN GTF2I XPA PRKAR1A CEP83 GDF2 ANKS6 MC2R MMAB SLC16A1 ALDH5A1 KCNE5 IL10 RASGRP1 CIITA D2HGDH SH2B1 VPS13A TMEM260 AHI1 PRPS1 VIPAS39 CD320 FTCD FN1 BBIP1 ABCD4 HPS1 SERPINA1 ITPR3 MYO1E NDUFAF1 FANCC FBXL4 CUBN GUCY2D TBL2 PEPD DNASE1 ACADVL CEL MME VAC14 PTH1R ARHGDIA HADHA CCNQ GP9 HACE1 LDHA NBN C1QB CD109 SARS2 ENG HYMAI FLVCR1 TKT ZMPSTE24 DMGDH HMGA2 ACAD8 CLEC7A BTD BSND MCFD2 GATA1 COL3A1 SOX18 GABRA3 HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION FAM20A SLC12A3 SLC34A1 CLCNKB LIMK1 RFC2 KCNJ1 ELN INSR ADCY10 CLDN16 GCM2 MLXIPL SLC34A3 GTF2I CLCN5 TBL2 AMMECR1 OCRL ATP7B CDKN1C PIGT PIK3C2A ALPL SLC12A1 CDC73 CLIP2 FCGR2A CASR PTH1R HLA-DRB1 TGFB1 AP2S1 FXYD2 KCNJ5 GNA11 BAZ1B CLDN19 KCNJ10 BTNL2 MEN1 CFTR GTF2IRD1 CLDN10 CYP24A1 MAGED2 HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION EPAS1 MDH2 RET ALK SDHD DNMT3A HACE1 SLC25A11 VHL DBH DLST SDHB SDHAF2 KIF1B MYCN MAX GDNF PHOX2B NF1 LMO1 SDHA SDHC FH TOP2A TMEM127 LIN28B HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY PDGFRB VPS11 CAMTA1 THOC2 MICOS13 FRMD4A NKX6-2 FMR1 KCNJ13 POMT1 ERLIN1 B4GAT1 ARID1B RUBCN RAB3GAP1 DMXL2 SPTBN2 GPC3 ERCC3 SASS6 KIAA0586 CC2D2A SIX3 SACS CRAT ADSL TMEM138 PCYT1A CHMP1A OPA3 SMO CACNA1G MPL RNASEH2A TERT RAB3GAP2 WDR35 DHDDS ATP2B3 POLG2 NCAPG2 KIF1A SRD5A3 B9D1 ATP1A3 MTHFS PAFAH1B1 WDR45 ABAT HDAC6 GJA1 USH1C DNMT1 AKT1 MT-TK PI4KA GAN DLG4 HRAS PNPLA6 RNF113A SETBP1 SLC35A2 ATP6AP2 TFAP2A L2HGDH PIGQ XRCC4 RPGRIP1 CEP120 INPP5E PIEZO2 UCHL1 CKAP2L TCTN2 STUB1 DHFR OCLN KCNC3 POMGNT1 SUFU TRAPPC12 SMARCB1 MAG SEPSECS RAD21 SERAC1 BUB3 OFD1 CEP290 CASK ALDH18A1 EXOSC9 ARL3 SLC39A8 PSAT1 SCARB2 VRK1 MME KLHL7 LAMB1 FANCI SLC39A14 FGFR1 FA2H LYST BRF1 PNKP FAR1 VARS1 RAB18 TCTN1 PHGDH TSEN54 COA7 ARHGEF2 SLC9A1 IQCB1 TAF1 CRB1 TBC1D20 TMEM67 GMPPB NTNG1 TOE1 MFSD8 ABHD12 TRAPPC11 BCAP31 JAM2 EBP ARL13B ATXN8OS FAM126A ATAD3A HSD17B4 USH1G PMM2 CEP104 GTF2IRD1 CLPB COG8 TUBB2B NF2 ZFYVE26 GPKOW MRE11 RAC1 KCTD7 CEP57 TTC19 TUBB4A CLN5 ERCC6 GPC4 MACF1 SLC9A6 TONSL PRKCG DNMT3A PEX2 PLD3 ARMC9 BAP1 B3GALNT2 CTBP1 SPG7 CACNA2D2 CLIP2 ERCC2 AP1S2 POR POMT2 HESX1 WDPCP FKTN PLK4 PIGP CRPPA DOK7 SIL1 PIK3R5 TULP1 RFC1 ERF DCHS1 NOP56 PCGF2 ATP6V0A2 DKC1 BTD CEP41 TBCK TGFBR2 DKK1 NPHP1 PLA2G6 ATP5F1A CARS2 DNAJC5 STT3A STAG2 ATN1 GNAO1 TMEM107 PLG SEC23B WDR34 FGFR3 FAT2 MAST1 RERE IRF2BPL TBC1D24 VPS53 TMCO1 GALC NSD2 MT-CYB POLG EEF2 MKS1 LMNB1 MT-TL1 COL18A1 ATXN7 FKRP MED12 PPP2R1A SPART RTEL1 PACS1 BCS1L GUCY2D NDUFS1 DYNC2H1 KCNA1 MYH3 SMARCE1 CEP164 KIAA1109 NEK1 TERC FGFR2 CDKN1C KMT2A PTEN RFWD3 BRAT1 PIGN PIGT RPL10 PIBF1 CILK1 ARID2 CCDC88C CDC45 GDAP2 KCNQ1 CYB5R3 PGAP1 KIAA0556 GJB1 TAPT1 QARS1 PEX10 DNM1L EVC2 CWF19L1 POLR3A HDAC8 FGF14 SLC33A1 PDE6D SDHD ITPR1 ASNS PIK3CA DHCR7 GRM1 RTTN TUBB ATXN10 SC5D STXBP1 IFT172 TCTN3 GBA2 NGLY1 PPP1CB MAPK8IP3 SMARCD1 BEAN1 POLA1 UBTF RPS6KA3 COASY ZNF335 CPLANE1 RNU4ATAC KIF7 COQ8A VHL TUBB3 ERCC1 MEF2C B4GALNT1 POMGNT2 PPP2R2B LAMA1 TMEM237 AP4M1 MT-TE GRID2 LAGE3 STT3B NPHP3 TUBGCP4 PIGG XRCC1 WASHC5 SCN2A NAGA TMEM216 BCORL1 SLC25A1 USP18 PRKDC ADPRS ALG9 TRMT10A POMK RPE65 NID1 UBA5 COG1 GJB2 NFASC MAN2B1 POLR3B RNF216 WDR60 MARS2 TINF2 AFG3L2 DAB1 MYO7A PEX6 MECP2 SMPD1 NUP37 CNTNAP1 LARGE1 MBTPS2 FCSK ERCC5 GLI3 TMEM240 BAZ1B NDUFS4 CENPF DOCK7 CYP7B1 SOX2 SAMD9L ATXN3 HTT TRAF7 EXOSC2 PCDH15 ARX RHOBTB2 NONO EPRS1 MVK COL3A1 ZNF423 ZIC1 TWIST1 ALG3 VWA3B EPG5 CACNA1A HYLS1 BCL11A MUSK ROGDI ZNHIT3 NDUFA6 AP4S1 L1CAM TBCE DISC1 SLC52A2 SQSTM1 DPH1 NFIX KIF1C IBA57 CDC42 TBL1XR1 RPGRIP1L SETD5 JAM3 CCDC22 BMP4 ATXN2 MT-ATP6 CHP1 MYOD1 NDUFA9 NMNAT1 PRNP GPX4 SLC20A2 ELOVL4 ACY1 DHX37 TBCD FRRS1L FOXRED1 TRAPPC4 SMARCA4 WDR73 ATP6V1E1 RNU12 CSPP1 AHDC1 SUMF1 POLR1C TGFBR1 NOTCH3 PARN SLC25A19 ATXN1 AHI1 KCNJ10 ZSWIM6 TMX2 PLP1 NUP133 BUB1B TXN2 TDP1 MAB21L1 CRX MCOLN1 EXOSC8 KCND3 NDE1 SCN1B PLAA SETX OSGEP OXR1 SNX14 RD3 HEPACAM TMEM231 LIMK1 SOX3 MPLKIP PRRX1 NARS2 MYO5A COG7 SPTAN1 NUBPL TPP1 IFT140 ELN NADK2 AARS2 DPM2 SYT14 CEP55 PDYN ATR RRM2B PORCN GNAQ KIF14 TRNT1 TTBK2 C19orf12 UFM1 PCNA ZNF592 SOX11 AIPL1 AP4E1 TGM6 USH2A HMGA2 WDR26 COQ2 RARS2 DENND5A SHANK3 SLC25A22 GPSM2 ELOVL5 WDR4 TSEN2 OTX2 ATCAY UBAP1 NRAS C2CD3 FTL SKI COQ4 GFM2 PRUNE1 LAMA2 APTX KRAS COL4A1 TRAPPC6B SDHC ASPM HNRNPH2 SLC18A3 TBP DHX30 SYNE1 IGF2 LEMD3 HERC1 RDH12 CLN3 ASXL3 MAF COQ9 SMC1A ADGRV1 TWNK FGF12 RBM10 VLDLR DARS2 RFC2 INPP5K TUBA1A GTPBP2 LCA5 FOXC1 MYORG B4GALT1 CLCN7 BICD2 RNASEH1 LNPK KCNMA1 OPHN1 ROBO3 VANGL1 GRIA3 SLC25A46 MGME1 SCYL1 FLNA AP4B1 ANO10 AP3B2 NELFA RXYLT1 TRPC3 TRRAP RAB11B PTF1A NFIA ARSI ACD EMC1 DPM1 SOX4 TARS1 FLVCR2 ALMS1 ZBTB11 SON SLC25A24 ALX4 AHCY FAT4 TUBGCP6 MFF KCNQ1OT1 ARID1A GRN TK2 CDKL5 SLC52A3 BUB1 DAG1 PIGS TSEN34 RAB27A GPHN USP9X SPECC1L NEUROD2 DNAJC3 FTO DOCK6 SLC25A4 TECPR2 MFSD2A LRAT OPA1 NUP88 EOMES USP45 PAX2 ACO2 TRMT1 CTSD ATP6V1A SMARCC2 SLC1A3 IFT80 PDGFB MYMK CTNNA2 CSF1R TOP3A SMG9 SETD2 NIPBL GTF2H5 CHD4 CENPE KCNC1 WARS2 INTS1 ACTL6B ATP8A2 SEMA3E CHD7 TRIP13 TP53RK CDK5 WHRN FIG4 SMC3 GTF2E2 NALCN AGTPBP1 CIZ1 MDH2 AIMP2 CCND1 FUZ ASXL1 STAT3 GPAA1 CLN8 PTRH2 PDZD7 MLXIPL RBBP8 WDR81 SALL1 LETM1 CYP27A1 PCLO FARS2 CYB5A WNT1 GABBR2 PIGA MORC2 ATP13A2 SPG21 PMPCB UBE2A YME1L1 EXOSC3 PROKR2 GJB6 NDP COG5 TRIM8 REPS1 CDH23 IER3IP1 CYFIP2 TRAPPC9 PUM1 DPF2 RAPSN MSTO1 SPATA7 CUL4B NOTCH2 DACT1 CCDC88A KLLN FAM149B1 GDF6 ATG5 GTF2I LMX1B FLI1 LIPT1 IMPDH1 DEGS1 NUP214 PPP1R15B PMPCA B9D2 RORA POGZ NDUFA1 PTCH1 ADGRG1 KIAA0753 TKFC VPS13B CTSF KDM1A EBF3 ARNT2 GOT2 FBXL4 HLA-DQB1 SIK1 TBL2 NAXE CIB2 SIK3 SDHB MAP2K2 ERMARD RBM8A RELN VAC14 ESPN PEX16 USF3 IFRD1 DYNC1H1 FBN1 WWOX MAN1B1 EVC CIT HP_BROAD_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_THUMB TWIST1 FGFR1 DACT1 CHST3 GJA5 PSMD12 FLNB GPC4 G6PC3 LIG4 SMO RBM8A FGFR2 PTEN GPC3 EP300 SUMF1 GDF5 NXN FGF9 FGFR3 GLI3 SALL1 BMP2 BMPR1A EZH2 HOXD13 FLNA RLIM BPTF USP9X PRKD1 ADNP NSUN2 ROR2 COL2A1 CREBBP OTUD6B DVL1 MSX2 SNIP1 NSD1 ALX4 KCNH1 PACS1 TBX5 SRCAP GNAS B3GAT3 GATA4 EED GJA8 ACAN MEGF8 SUZ12 MED12 SATB2 INPPL1 DVL3 RAB23 XYLT1 NOG PYCR2 EXOSC2 SMOC1 WNT5A MEIS2 PUF60 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 TWIST1 POLR1A FGFR3 SMARCAL1 CTBP1 SDCCAG8 TCIRG1 MTAP KIF7 AMMECR1 LRP4 COMP MMP13 PTH1R CLCN5 SOX9 LMBR1 TCF4 GPC3 TP53 OSTM1 SOST FGFR2 BRIP1 COL2A1 MED25 DYNC2LI1 RAG2 SALL4 NSD1 BPNT2 KCNH1 LTBP3 GJA1 SMO LRP5 CHD7 HSPG2 GSC PEX1 SF3B4 WDR35 CC2D2A FKBP10 COL11A2 NEB EXT1 RUNX2 BPTF ATP7A USP9X FGFR1 HDAC6 FAM111A ORC6 PCYT1A GAN SETBP1 SLC35A2 ROR2 SEMA3E PIGQ CCN6 RPGRIP1 RAB33B GATAD2B GNAS RMRP ESCO2 PHYH SLX4 PEX10 NEK1 GLB1 BCOR DVL1 INPPL1 BRAF NFIX DHODH CEP290 ANTXR2 COL11A1 ATRX FANCA MMP9 WDR60 GHR PEX12 FANCI ARSB PEX7 BRF1 RAB23 COG4 EVC2 XRCC2 TMEM67 WDR19 CCDC8 TENT5A OFD1 GDF5 CRTAP OCRL WNT5A DCLRE1C ACAN MAGEL2 ANKH NPHP1 GTF2IRD1 IFT80 LARP7 LETM1 FANCB MEGF8 SNORD115-1 HNRNPA2B1 CTC1 SH3PXD2B TBCE LPIN2 FANCM ERCC6 NF2 GPC4 ZMPSTE24 TONSL EP300 COL1A1 SUMF1 EXTL3 SNRPN CUL7 PDE4D CLIP2 POR WDPCP PEX5 PIGP SIL1 CLCN7 PEX26 BMPR1B SMAD4 NPR2 MAFB NEU1 ATP6V0A2 NANS ENPP1 BCR PEX19 SRY PTDSS1 CPLX1 CREBBP OTUD6B GNAO1 UGP2 DNAJC21 WDR34 HBB MATN3 EZH2 ALX4 MKS1 TRPS1 PEX2 FZD2 MAD2L2 UFSP2 ARSL IQCB1 PLK4 GATA4 HINT1 VPS13B GJA8 DYNC2H1 FBN1 KCNA1 PEX13 TGFB1 ALPL PHEX PWRN1 MED12 RFWD3 PIGT IHH LEMD3 NOG ATR TRAIP PTPN11 COL1A2 CDC45 XYLT1 TNFRSF11A FAT4 PRKAR1A TAPT1 IFT122 CDC6 ANO5 POLR3A DNMT3A PALB2 P4HB ABCC9 RNU4ATAC KLHL41 PRDM5 GPC6 ACTA1 ACSL4 MGP STXBP1 CEP152 IFT172 AIFM1 EIF2AK3 RECQL4 PEX16 NPHP3 CASR RPS6KA3 GUSB PLOD2 HHAT SLCO2A1 PIGL SHOX B3GALT6 AMER1 ZIC3 B3GLCT TUBB3 SALL1 FLNB DYM IFT52 HOXD13 CANT1 DDRGK1 IFT140 HOXA13 SCN2A PEX3 TMEM216 RSPRY1 CHSY1 ALG12 GLI3 NXN TBX5 LIG4 GALNS DONSON P3H1 MAP3K7 MAN2B1 IFT57 EED KCNJ2 FANCD2 TMEM165 GNPAT COL10A1 LIFR ADA POLE DVL3 FLNA TRPV4 BAZ1B COL9A1 SHH THRB BHLHA9 EXOSC2 SMOC1 TBX4 EBP ARX EFL1 SBDS RPL13 ERCC1 TYROBP RAD51 SLC26A2 NPHP4 TREM2 JAG1 COL9A3 PEX11B PCNT SLC17A5 HARS1 EHHADH MAP2K2 HYLS1 MUSK KIF15 GNPTAB ATRIP CHST3 TTC21B CRKL EXOC6B ZBTB20 SQSTM1 IFT81 RETREG1 EXT2 CBS IFT43 CENPJ CEP164 RLIM RAD51C PUF60 RSPO2 SPART TNFRSF11B PRKD1 SEC24D IDUA NKX3-2 POP1 ALG9 COL9A2 POC1A CYP27B1 C12orf57 PNKP IL2RG SNORD116-1 PITX1 MGAT2 GPX4 IDH2 SERPINH1 CDT1 CTCF RBBP8 VCP RET TBCD HOXA11 PEX6 CSPP1 IARS2 CYP2R1 SNRPB SETD2 RPS19 SCN1B ANTXR1 SLC34A3 TBX3 PDGFRB LIMK1 GJA5 B4GALT7 ESR1 TRAPPC2 FANCL AFF4 ELN CTSK PWAR1 MET CEP55 PORCN ATP6V1B2 FGFRL1 BMP2 NSDHL ERCC8 TBX15 EVC TNFSF11 WDR26 DCHS1 FIBP SNIP1 SLC25A22 SMARCA2 MMP2 SRCAP CA2 HSPA9 MYSM1 FLI1 NF1 MYF5 FAM20C CDKN1C SKI MIR140 MCTP2 KIAA0586 CKAP2L INVS COG1 NDN MAPK1 B9D1 SLC35D1 PUS3 WNT7A UBE2T ADAMTS2 HS6ST1 PYCR1 RBM10 PEX14 ACP5 RIPK4 RFC2 ERCC4 DMXL2 PSMD12 INPP5K ADAMTS10 SLC39A13 SRP54 IDH1 NSD2 LMNA B2M GORAB GMNN TPM2 ACVR1 VDR CDKL5 BRCA2 GGCX NSUN2 DDR2 KIF22 PIK3R1 MSX2 BRCA1 FGF9 TCTN2 GNPTG B3GAT3 STX16 CFAP410 RBPJ TCTN3 SETD5 EFNB1 PTHLH CFL2 SATB2 TRAF3IP1 PIGS INTU NEUROD2 FN1 CTNS PYCR2 TMEM107 PRMT7 SON MEIS2 RAG1 TMEM38B PDE3A CEP120 FANCE HNRNPA1 GLI1 G6PC3 RBM8A CSF1R SCN9A TBXAS1 SLC10A7 SAMD9 PTEN LMOD3 CENPE TRIP11 SCARF2 FANCF ADNP LONP1 NPAP1 GPR101 RAB3GAP2 FIG4 CASK SFRP4 CYP19A1 FANCG NIPBL ZNF469 IL7R KRAS AIP RPGRIP1L APC2 ORC1 LMX1B RB1 APC SLC2A10 OBSL1 MAP2K1 CHN1 NSMCE2 SNX10 TRIM8 HERC2 NEK8 ADAMTSL2 FGF10 PLOD3 DMP1 LBR LOXL3 NOTCH2 CHEK2 DACT1 EIF4A3 GTF2I PAM16 TRPV6 KCNN3 KCNE5 DHCR7 ZNF141 B9D2 PLEKHM1 COG5 ZBTB16 BMPR1A SLC29A3 WNK1 NOTCH3 NR5A1 KCNJ8 ORC4 MKRN3 ARCN1 IFIH1 CLTCL1 PACS1 FANCC KIF1A SIK1 TBL2 SIK3 PEPD SUZ12 TGDS VAC14 SGMS2 CCNQ BGN TMEM231 CWC27 HPGD GLE1 RPL26 AGPS PAPSS2 HP_BICORONAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORONAL_SYNOSTOSIS MSX2 FGFR1 ZIC1 RECQL4 FGFR2 HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS JMJD1C ERF GP1BB ARVCF SEC24C TBX1 UFD1 COMT HIRA RREB1 FGFR2 HP_ABNORMALITY_OF_FONTANELLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FONTANELLES SLC26A4 CTSD PEX19 CHST14 COL1A1 PEX16 FGFR3 SETBP1 ASPA CTSK SMG9 FGFR2 LHX1 PYCR1 ATR ATRX RNU4ATAC AMER1 KIF7 COG4 B3GLCT ACE GJA1 CYP2R1 BANF1 LMNA RUNX2 TSHR PEX1 NEB REN COL11A2 PEX5 FLNA PEX13 HESX1 SEC23A PIEZO2 PEX10 PEX11B PEX6 HNF1B PEX26 ADAMTS2 DCHS1 LHX3 FAM111A CYP27B1 HRAS ALDH18A1 MMP2 ROR2 USP7 NKX2-1 LRP2 ACTA1 PEX12 P3H1 SUFU RECQL4 DVL1 INPPL1 FAM20C PAX8 PLAGL1 NSMCE3 MIR140 POR TSHB SLC25A24 PIGA GNPAT AGT NKX2-5 MASP1 DSE AGTR1 GLI3 PTDSS1 VARS1 PEX2 ATP6V0A2 UBR1 HYMAI ETFA SOX9 IGF2 CRTAP NPHP3 ATP7A EBP WNT5A SHPK HSD17B4 DUOXA2 ACTG1 DVL3 MVK ERCC1 SH3PXD2B MAF RBM10 PEX14 TBCE ATP6V1A HPGD PROP1 ETFB POU1F1 LHX4 LIG4 ZIC1 ZMPSTE24 TWIST1 TPO KLHL41 PPP2R5D BMPER PAM16 GCDH SMC3 EP300 FOXE1 ANTXR1 GPX4 MTOR SLC5A5 LMOD3 MYCN GLIS3 KLHL40 VDR COL1A2 DUOX2 NSUN2 CREBBP ANKRD11 ALG1 ALG9 ORC1 COL11A1 HOXD13 IYD ETFDH SIX2 TG MED12 FIG4 MSX2 FAT4 KCNQ1OT1 NLRP3 TALDO1 PEX3 POLR3A ALPL CDKN1C ARX ATP6V1E1 INTU CDC45 NDE1 KCNQ1 ZSWIM6 SKI ALG8 TRHR SLC34A3 ACTB RPS6KA3 HP_ABNORMALITY_OF_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CRANIAL_SUTURES TWIST1 PDGFRB SLC12A6 MPLKIP PDX1 KCNAB2 WDR35 AFF4 PTEN FOXG1 FGFR2 KCNJ11 MAP3K7 FGFR1 CTSK COL1A2 KRAS ADSL STAT3 FGFR3 BPNT2 MMP14 IFT122 SMO ALDH18A1 ORC6 BANF1 RUNX2 PPIB REN FKBP10 KANSL1 ATP7A FAM111A DCHS1 COL1A1 SPECC1L CYP27B1 RNF113A SETBP1 SLC35A2 MMP2 ROR2 USP7 CHST14 CEP120 IFT43 ESCO2 MAN2B1 MEGF8 SKI MIR140 ARVCF SLC39A8 KLHL7 DMP1 GCK MASP1 DSE AGTR1 DONSON RAB23 TNFSF11 SEC24D ABCC8 TENT5A KAT6A CLCN7 IGF2 CRTAP LRP5 BMP1 MAF HSD17B4 LMNA PEX1 HNRNPK UFD1 COL10A1 SH3PXD2B EFEMP2 TBCE RBM10 SMARCD1 NOTCH3 CCNQ DPF2 EP300 EXTL3 ERCC2 GORAB COMT POR GMNN ZFP57 JMJD1C GLIS3 ERF ERCC3 VDR ATP6V0A2 ENPP1 SMAD6 HIRA TGFBR2 AKT1 STXBP1 RNF125 PTDSS1 NSUN2 CREBBP MSX2 ALX4 CDH11 TARS1 SIX2 ZMPSTE24 SON MED12 SLC25A24 PLK4 PPP2R1A WDR19 KCNQ1OT1 PLAGL1 SP7 DDRGK1 POLR3A ALPL CDC45 EFNB1 NSD1 CDC6 TBX1 PHEX NAA10 CCBE1 POLA1 CDKN1C HUWE1 MYH3 LEMD3 ATR TRAIP AHDC1 INTU SEC24C IFITM5 KCNQ1 CYP26B1 BMP4 FAT4 TAPT1 KDM5B SMAD3 ZIC1 P4HB AMER1 RSPRY1 RTTN SC5D CEP152 PEX19 RECQL4 PPP1CB GPC6 NUP188 ASPA SCN9A SMG9 PLOD2 HERC1 B3GLCT GTF2H5 CHD4 PRDM16 ERCC1 ACE CYP2R1 HSPG2 TBCK FBLN5 COLEC11 FLNA SCARF2 RREB1 IFT140 ADAMTS2 TMCO1 TCF12 FIG4 GTF2E2 GLI3 PPP3CA RERE YY1 ASXL1 P3H1 INS APC2 ORC1 AIFM1 TCIRG1 ERCC5 AGT SLC2A10 IL11RA BCL11B PCNT SNX10 TGFBR1 TLK2 GP1BB ACTG1 PSAT1 CENPE NOTCH2 ATP6V1A HPGD LIG4 CDK8 ERCC6 LMX1B IFT52 PAM16 SMC3 PIGT FREM1 GNPTAB ATRIP IRX5 ANTXR1 FAM20C SEC23A RETREG1 PTCH1 COLEC10 DPH1 WNK1 CENPJ NFIX ADAMTS3 THRA ANKRD11 ORC4 TBC1D24 ADAMTSL1 HNRNPU POU1F1 COL11A1 KIF1A NLRP3 FBN1 CTCF RBBP8 ERMARD IL6ST GABRD VAC14 ATP6V1E1 CWC27 CDT1 HYMAI KPTN SETD2 RPS19 PEX14 FLNB SLC34A3 ACTB RPS6KA3 ARID2 HP_METOPIC_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METOPIC_SYNOSTOSIS HERC1 SON PTCH1 FREM1 CDK8 GLI3 SIX2 WDR35 HP_FACIAL_SHAPE_DEFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_SHAPE_DEFORMATION ITGA8 HIBCH ACE MAN2B1 NPHP3 PKHD1 AGT FGF20 AGTR1 REN CEP55 HP_ABNORMALITY_OF_MOUTH_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SIZE PPM1D SMS CAMTA1 LIMK1 B4GALT7 KLHL15 PRRX1 KCNAB2 PAFAH1B1 TCOF1 ARID1B TCF4 AMMECR1 LTBP3 COG7 GPC3 ELN UBE3B MED12 STAG1 CC2D2A MYH3 DDX11 TWIST2 ADSL MED13L ATP6V1B2 CHRNG BPNT2 KCNH1 BMP2 GJA1 GSC ORC6 SF3B4 COL11A2 NFIX SOX11 SEC23A AP4E1 RAF1 PIEZO2 ROR2 KCNK4 HDAC6 POLR1D TRIP12 SNIP1 ZMYND11 SETBP1 SMARCA2 MTOR CHST14 SRCAP GATAD2B WDR4 CTCF MECP2 GPC4 COL7A1 OTX2 PIK3CA GLB1 TMEM70 STRADA FAM20C SMARCB1 PQBP1 AGA NALCN MBD5 ARVCF FLCN ATRX AKT3 COG1 KDM6B MAPK1 DSE DONSON FBXO11 SKI LAMB3 HNRNPH2 MED13 TNNT3 B3GLCT NTNG1 MMP1 SSR4 FGFR2 PIK3R2 ACTL6B MAF LMNA EDN1 GTF2IRD1 LARP7 UFD1 SH3PXD2B AP4B1 CCND2 PIGY RPL10 SEPTIN9 FREM2 SMARCD1 RFC2 TRIO ZMPSTE24 IDUA DHCR24 DPF2 EP300 ANKRD11 EXTL3 SIN3A CLIP2 COMT KCNMA1 GMNN JMJD1C SMAD4 TRMT5 DCHS1 ITGA3 TBC1D20 PCGF2 FLNA AUTS2 HIRA BCR LAMC2 STXBP1 NSUN2 CREBBP POLR1C TRRAP NFIA RYR1 TMCO1 GNAI3 SOX4 MKS1 B3GAT3 SON SLC25A24 FAT4 PACS1 ARID1A SP7 TALDO1 SMARCE1 POLR3A CDC45 CHSY1 TTN CDC6 TBX1 HECW2 CCBE1 PPP1R15B HUWE1 SATB2 PIGN TMEM67 ARID2 SEC24C HIVEP2 IGF1R PGAP1 BCL11B MAP2K1 PMM2 TPM2 RSPO2 DHCR7 TRIP4 YWHAE RTTN TUBB SMARCC2 RECQL4 MAPK8IP3 TNNI2 RPS6KA3 QRICH1 CLCF1 PTEN LAMA3 PRDM16 INSR HSPG2 GNS TXNL4A RREB1 PLCB4 ZNF148 IFT140 AP4M1 SPEG UBE2A SEMA3E CHD7 DCPS RIPK4 ACTB ALDH18A1 ALG9 TRMT10A NXN TTC37 AP4S1 GALNS RERE UBE3A CDKL5 SALL1 GABBR2 ORC1 PIGA MCM5 ABCC9 PTDSS1 ASXL3 BAZ1B CENPF ATIC SMARCA4 FBN1 TLK2 TBX4 ADAMTSL2 GP1BB NONO ACTG1 ADNP CUL4B NOTCH2 WNT3 DACT1 CRLF1 CHST3 ADAT3 ATP6V0A2 LIG4 TP63 EIF4A3 GTF2I TWIST1 LMX1B PAX3 KCNN3 APC MUSK RNF113A IRX5 PSPH CRKL POGZ ZBTB20 PIGL ZBTB16 NRXN1 PTCH1 SH2B1 CDK13 IARS2 BMPR1A CDC42 TAF6 AKT1 RLIM ADAMTS3 GBA PACS2 KCNJ8 ORC4 BRPF1 BIN1 SCYL2 CD96 OFD1 RPGRIP1L COL11A1 DPYD SET MGAT2 MAPRE2 CDT1 TBL2 POLD1 CANT1 GABRD MYBPC1 COL2A1 BPTF ZSWIM6 RAI1 ERLIN2 WDR73 AP1S2 COL3A1 PHACTR1 OSGEP HP_ABNORMALITY_OF_MOUTH_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SHAPE LIFR ABCC8 PIGY CCDC47 CSNK2B CTBP1 RNU4ATAC MASP1 PDX1 SC5D STRADA AFF4 KCNJ11 RPS6KA3 PARS2 SRCAP NXN PWAR1 CLTC ADAM22 MED13L NIPBL RAI1 HRAS SMC1A STAT3 CHRNG FGFRL1 FZD2 MEF2C PUS7 HSPG2 COLEC11 SLC9A6 KANSL1 INTS1 NCAPG2 DGCR8 TMEM237 UBE2A KIF1A AKT1 TELO2 ROR2 HMGA2 COLQ NPAP1 CCDC174 DCHS1 TRIP12 EIF2S3 FAM149B1 DENND5A SMC3 OGT ERF TBX1 NALCN KAT6A TRMT10A MTOR KCNH1 ESS2 NKAP WDR4 HDAC8 MLXIPL DVL1 LETM1 PCLO INS NTNG2 MIR140 RAD21 UNC80 SOX11 PIGN MBD5 PURA PIGA ATRX KDM1A DGCR6 NDN GCK LAMA2 FBXO11 IQSEC2 DVL3 EEF1A2 TWIST2 DST WAC UBA1 KCNJ6 AP1S2 HS6ST2 GK POMT2 IL1RAPL1 LEMD3 OCRL ZSWIM6 EBP HERC2 ERCC2 WNT5A NEXMIF ALX4 ASXL3 PLOD3 MAGEL2 TCF4 REV3L HNRNPK NONO TRAPPC9 SNORD115-1 PIGV MED12 HACE1 RAC1 NOTCH2 NRAS SLC16A2 SMARCD1 TET3 CCDC88A ATN1 SLC6A8 GTPBP2 PLXND1 INPP5E ZNHIT3 FOXP1 DIS3L2 PPP1R15B PIGT NSD2 EXTL3 KIF15 DEAF1 SIN3A SNRPN PDE4D BRAF POGZ ZBTB20 KCNMA1 ZFP57 COLEC10 HOXB1 TCF20 GRIA3 STAC3 PIGO CDC42 GPC4 AHI1 MAFB PPP2R5D NFIX RLIM PIGL GBA PACS2 VPS13B NELFA SETD5 CPLX1 TUBB4A MKRN3 BRPF1 LMBR1 PIK3R1 TBC1D24 EBF3 FLII EHMT1 CDH11 PACS1 PHF21A RAB18 SNORD116-1 ELN KCNK9 TFAP2B EXT2 MGAT2 PPP2R1A CHAMP1 PAK3 PLAGL1 DHX37 PIGW MYH3 POLR3A DGCR2 IGF2 PWRN1 KMT2A SOX5 SLC35A2 HDAC4 FAT4 KIF7 HYMAI PRKAR1A ANKLE2 BUB1B LAMB2 PGAP3 SON PGAP2 HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION PPM1D PIGY CLCN4 AFF4 ARID1B DDX59 FOXG1 AMMECR1 EDA2R CLP1 KIF11 STIL FOXH1 DPM2 PWAR1 CLTC CPLX1 ATRX ADSL MED25 SMC1A RAB39B ARHGEF6 KMT2A IFT43 DYRK1A CEP135 BPTF NCAPG2 KNL1 ZSWIM6 ROR2 KCNK4 WDR26 DCHS1 ARX IL1RAPL1 DENND5A CACNA1C CDK6 RAI1 PTCH1 KDM5C KCNH1 PDGFRB EDARADD CHST14 GATAD2B HDAC8 ZC4H2 AGL MECP2 SIX3 GAS1 DVL1 STRADA PAX3 UNC80 MCTP2 NALCN MBD5 RPS6KA3 COL11A1 MID2 COG1 KDM1A TGIF1 NDN MAPK1 DSE EXT1 IQSEC2 FAR1 ARHGEF2 MED13 TAF1 B3GLCT TSPAN7 TOE1 KAT6A PHC1 FGF8 OCRL EDA WNT5A MAF MAGEL2 PMM2 TDGF1 SNORD115-1 PIGV RAD21 MED12 RPL10 PSMD12 CDH11 ACTA1 LMBRD1 PPP2R5D CCNQ DPF2 DIS3L2 DEAF1 SNRPN MTOR KCNMA1 IRF6 GLIS3 TCF20 ZBTB18 NCAPD3 PLAA SLC25A46 GPC4 PCGF2 AP4B1 DMPK BCR TBCK SETD5 CENPJ SYT1 OTUD6B TMEM94 TRRAP RAB11B NFIA ZNF41 KIF14 ZNF711 SASS6 KCNK9 SON SLC25A24 CHAMP1 SYP PACS1 RNU4ATAC NODAL CSNK2A1 GDI1 POLR3A SLC9A7 NAA10 KCNJ6 PWRN1 PBX1 PPP2R1A HUWE1 TRPS1 BRAT1 PIGN NOG USP9X SPECC1L ANKLE2 TPM3 NSUN2 IGF1R FAT4 BCL11B DLL1 PGAP2 MEIS2 THOC6 SMARCC2 ABCC9 RSPRY1 MYO18B STAG2 FTSJ1 MAPK8IP3 MCPH1 CDK5RAP2 UPF3B BRCA1 PGAP3 SETBP1 QRICH1 CDON GNE HCFC1 PUF60 CXorf56 LAS1L TMEM237 AP4M1 UBE3B SELENON ADNP BMP2 NPAP1 DCPS ALG12 ACTB PRKDC ZIC2 FBN1 TRMT10A CTNNB1 NXN NIPBL YY1 NRXN1 TAF13 PTRH2 RPS7 ADGRG6 MFSD2A KCNJ2 PIGW CNKSR2 EDAR DISP1 TPM2 SSR4 RYR1 PREPL ASPM CEP63 EEF1A2 WAC ATIC HACD1 ITGA7 PIGO TWIST2 EXOSC2 HERC2 IER3IP1 RHOBTB2 NONO DVL3 TRAPPC9 MAP11 PTCHD1 ACSL4 ATN1 SC5D MID1 WDR62 SMC3 USP27X PPP1R15B PIGT APC BCL11A KIF15 PDE4D OPHN1 PIEZO2 PYCR2 METTL5 ACTG1 CRKL POGZ ZNHIT3 SHH SLC26A2 SEC23A AP4S1 CDK13 EHMT1 CDC42 TAF6 ALG13 AGTR2 PIGL GBA PQBP1 PACS2 PAK3 ANKRD11 MKRN3 GLI2 TBL1XR1 TBC1D24 ADAMTSL1 EBF3 MPC1 WDR4 OFD1 FLII CEP152 MYL2 NEXMIF FRMPD4 SNORD116-1 HNRNPU DLG3 AP4E1 SMARCE1 CNTNAP2 ALDH6A1 RNF135 CTCF DMD MAN1B1 TUBGCP2 CDK10 COPB2 WDR19 SUFU SMAD4 MAP3K20 PIGG CIT PITX2 FGFR1 ZNF81 AP3B1 HP_LONG_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_UPPER_LIP DIS3L2 TBL1XR1 B3GALT6 ARX TRPS1 HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY KCNJ11 TANGO2 ABCC8 GJA1 ATR TRAIP RNF168 PCNT B4GALT7 ASPA COG1 ABCA2 CEP152 CENPJ PLK4 NONO RBBP8 ALB MT-TK NSMCE3 ADNP ACAD8 LRP5 WDR26 TBX4 ACTB CDC6 ATRIP CENPE HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY TANGO2 TPP2 PHGDH CNNM2 ADNP TBX4 SDHAF1 PGM3 SDHB IRX5 SDHD SDHA HAL CDKL5 EGF TMEM70 AIFM1 HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY SNX14 GAMT TANGO2 ACO2 VPS11 CCDC47 SLC16A2 AIMP1 PEX3 PEX19 GLUL RTTN INSR PEX14 SLC9A6 NTRK2 ERCC6 CTNNA2 RNASEH2C DEGS1 ARX DPM1 ADSL ARNT2 RAB3GAP2 RPS6KA3 NIN GABRG2 EXTL3 KIF15 ZNF335 TXN2 ERCC2 MED25 PEX6 TUBB3 ERCC1 COG8 HESX1 TSEN54 MTRR STXBP1 TBCK RNASEH2A PROP1 DYRK1A PEX5 CDKL5 PEX13 INTS1 ACTL6B SYT1 PEX10 PEX11B GLI2 MT-ND1 PHGDH TELO2 ADNP CTNND2 WDR26 MN1 UGP2 FOXA2 TBL1XR1 EIF2S3 DYNC1I2 CLTCL1 ATRX ACOX1 DYM PEX1 KCNH1 NEXMIF TUBB2A MT-TT TRAPPC12 SEMA5A YY1 NRXN1 PEX12 GJB2 FIG4 MT-ND4 MECP2 FBXL4 CNTNAP2 POMGNT1 STRADA MT-TL1 MT-ATP6 LHX4 UNC80 MT-ND3 CYB5A PIGN UGDH MT-TK EMG1 MT-TW ADK DEAF1 MT-ND6 MT-ND2 ERCC5 LAMB1 TBR1 PEX2 ASXL3 GEMIN4 FGFR3 OTX2 MT-TV GJB6 PEX16 PEX26 SLC25A19 KCNJ6 CYB5R3 GNPTAB PYCR2 STAMBP BUB1B RNASET2 PIGG MT-ND5 CASK LIAS POU1F1 TUBA8 HP_GENERALIZED_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ABNORMALITY_OF_SKIN STIM1 KRT14 PLIN1 CASR GDF2 ELMO2 ATRX MTAP INSR ELP1 TSC2 C15orf41 IL17F F7 KCNAB2 ARHGAP31 ARID1B PTEN XPA KCNN4 TP63 TCF4 NF1 ERCC3 CASP10 CTLA4 TERT DDX11 LORICRIN CTSB GPR35 RAG2 PKP1 STAT3 ATM HCCS PEX1 GLA PIEZO1 RHAG MT-ND4 CCR6 PROC RNF213 ATP7A EPHB4 AK9 CFH F5 BCOR TMC6 CALR HPS3 NECTIN1 RNF113A CFI IRF2BP2 SLC37A4 TFAP2A PDGFRB CHST14 KIT PLEC HPS4 IFT43 PKLR PALB2 GP1BA PEX10 DHFR COL7A1 OCLN NFIX PFKM MITF WRN CASK ACADVL BRAF PAX3 TREX1 THPO AGA RAD21 TBX19 F12 DAXX SFTPB ERCC2 KRT5 GABRG2 SLC25A20 PSMB8 MYH9 CLCN7 MST1 PEX12 DSE NCF4 FGFR1 CFTR LYST SLC2A2 NBAS KRT10 EDNRB UROD ORAI1 GJB6 SLC25A11 PTPN22 UGT1A1 COL5A2 ERCC4 TINF2 NHLRC1 DCLRE1C MAGEL2 HSD3B7 MBTPS2 PMM2 GNAS GTF2IRD1 LARP7 UFD1 SLC26A4 SNORD115-1 NPC1 CTC1 TSHR SDHD ICOS C2 ETHE1 IRF5 GPC1 FANCE AGRN KITLG RAB3GAP1 ERCC6 POU1F1 WIPF1 DLST LHX4 HBB ZMPSTE24 XRCC4 TET2 HFE DGUOK SNRPN CLIP2 COMT VWF IFNG SFTPC WAS SLC5A5 RMRP HLA-DRB1 PRKACA PEX26 MT-ATP6 DCDC2 LBR RAB27A ITGA3 SMAD4 PEX5 TFAM ATP6V0A2 USP8 NOTCH1 DUOX2 HIRA DKC1 BRCA1 BTD ADAR PCK1 RBM28 AKT1 IFIH1 SOX10 FBN1 PTDSS1 TGFBR1 CFHR1 TGM1 CTSA MMP1 SH2B3 PRKAR1A SEC23B SLC25A1 PRSS1 MDH2 GSN MT-ND6 EDARADD KDSR DNMT3A G6PD PPOX MT-CYB BRCA2 PEX2 MT-ND4L HMGCL DDB2 MED12 TRPV3 PLK4 MEFV ANAPC1 FOXP3 SLC25A3 IL12RB1 SDHB SCN9A SLC4A1 TALDO1 RIN2 ADAMTS13 PEX13 SMARCE1 TGFB1 TGFBR2 SLC18A3 ELOVL4 CHRND PIK3R1 HK1 TERC CAV1 NAA10 PWRN1 KMT2A AGXT BLM ABL1 NCF1 CR2 ATR TRAIP ARID2 NFKB2 CLDN1 IGF1R ANKRD26 CYB5R3 PEPD ERCC5 F13B NBN NLRP3 PDGFB GP6 PRKCD IFT122 EVC2 ADA2 RECQL4 CDKN2B SMAD3 MT-TL1 POLR3A HDAC8 EPB42 SCN1B BMPR2 SDHC GJB3 UVSSA NLRP12 SCN2A XPC PIK3CA MVD DHCR7 KMT2E PRDM5 SMARCAD1 SPTB IL17RC CEP152 CCM2 VHL PEX16 SMARCD1 TGFB3 MT-TF EPB41 PIGL C4A RNU4ATAC B3GALT6 FGFR3 GFI1B CDKN1B PRDM16 PIGT ERCC1 EDA GNA14 PLOD1 HLCS PRF1 TRPM4 LMNA MANBA MT-CO3 UROS MT-ND1 KRT2 SLC6A19 HESX1 ALDOB RREB1 RUNX1 PMVK AKR1D1 GP9 LHX3 NAGA EOGT TGM5 MEN1 USP18 PEX19 TNFRSF13C ITGA2 GABRA1 TRMT10A FANCC F8 LIG4 ACTA2 ZBTB16 FBLN5 GJB2 ANTXR2 AQP5 IKBKG PRKG1 ANK1 MUSK ALDH2 KRAS SMARCB1 SP110 ALOXE3 PEX6 SOX18 ACADL COL1A1 SLC25A24 FAS TPI1 NEU1 SLFN14 MMP21 TCIRG1 AEBP1 ZIC3 SLC39A4 ADA ABCB4 PLCG2 LIPN F13A1 TWIST2 BAZ1B EDN3 CYP7B1 ABCD3 MT-TS2 KRT8 FGFR2 GYPC GBA MPL CDKN1A DUOXA2 GP1BB POLH CHRNA1 ITGB3 PAX8 KRT85 JAG1 HPGD NLRP1 PEX11B BSCL2 RIT1 SLCO1B3 COL3A1 NFKB1 TPO MFAP5 SMC3 SLC2A1 RTEL1 MAP2K2 PRICKLE1 SLC35A1 RAC2 GNPTAB MS4A1 LOX ATRIP SLC30A10 XPNPEP2 COL1A2 MT-ND2 CHRNB1 SF3B4 GJA1 CBS NBEAL2 PIGO SLC52A2 ERCC8 CENPJ FH CDH23 STXBP1 GATA1 PGM3 EDAR ABCB11 GLMN TBX1 TBL1XR1 CHD7 POLE IL12A NECTIN4 SETD5 ITGA2B IL2RG CYLD SNORD116-1 PRPS1 DSG4 TG JAK2 ATP2C1 CCN2 PARN CHAT TSC1 ARL6IP6 CTCF RBBP8 HNF4A SPTA1 GPI PIGW SERPINF2 KRT18 HELLPAR FASLG GABRD RET SLC20A2 AGPAT2 HOXA11 KRT1 GALT ATP6V1E1 FANCA RNASEH2A PERP PDE11A DPAGT1 CD46 TNFSF12 MAOA RHOH JUP SPINK5 MAT2A NDUFB11 TRHR GALE TNFSF15 FCGR2A ANTXR1 GUCY1A1 WNT10A RPS6KA3 B4GALT7 CFHR3 IL7 DSTYK TYRP1 PIGY LIMK1 MPLKIP LRP1 CPOX IL36RN STAT5B ATP11C MYO5A NOTCH3 COG7 ELN PWAR1 PORCN ABCC2 CD81 GNAQ NGF WRAP53 SMC1A ALDH18A1 DTNBP1 MVK EPM2A SERPING1 PCNA NSDHL SOX11 HBG2 SLC5A7 SPINK1 ACVRL1 ATP8B1 TNFRSF13B PALLD HLA-B MT-TQ PROS1 CDKN2A MPV17 GCLC MYH11 NDUFS2 CYBC1 PRSS2 SCN4A ADGRE2 MYD88 COL13A1 LMAN1 KRT16 DOCK6 TOP3A F2 CHRNE SDHA KIAA0319L AKT3 NOD2 ARVCF NUMA1 DLL4 BPGM C1R NDN MASP1 HBA1 SKI ATP6V1B2 TNFSF11 RBPJ VPS33B XPR1 SCN10A PUS3 PLAU NR1H4 RNASEH2B ARMC5 HLA-DPB1 PPARG SCN11A GLRX5 NPM1 APOE MT-ND5 ADAMTS2 STAG1 CDKN2C MT-TH PIGV PYCR1 EFEMP2 MYO9A PEX14 RBM10 SPIB RFC2 FCGR2B KCNQ2 RAF1 SNAP25 COL17A1 NCF2 SLC39A13 STN1 DSP PTPN11 KRT9 ITGA6 GALK1 CSTA NABP1 GORAB CIB1 FUCA1 GLB1 JMJD1C FERMT3 ENPP1 P2RY12 GHR CSTB FLNA MT-CO1 GGCX CTRC GJB4 NSUN2 CHD2 NFIA NFKBIA LRP4 ACD PRTN3 WDR35 CCDC115 DPM1 ZNF469 CYBB CDH11 PCDH19 SNAI2 SOX4 FECH TARS1 ETFDH BMP2 F10 FKBP14 SMPD1 COL5A1 WDR19 ABCB6 LMNB2 ARID1A NTRK1 RNASEH2C AIP RAB3GAP2 IL17RA KCNJ6 MMEL1 PPP1R15B MYLK ABCC6 ALDH3A2 MT-CO2 TNXB ITGB4 EXPH5 SEC24C PDSS1 TRMU PEX3 KRT74 FTO SYT2 TNFRSF1B PRKAG2 FLT4 PGAP2 RAG1 RASA1 CYBA PHGDH VAMP1 SMARCC2 SDHAF2 NOP10 CDH3 TGFB2 RORB SLURP1 PARS2 COX7B ETV6 NIPBL SAMD9 COG4 CPA1 GTF2H5 PML SLC29A3 ARX COG8 ADAM17 PDCD10 SCARB2 SLC27A4 HPS5 CD19 SMARCA2 HNF1B SAMHD1 NPAP1 CYB5A FERMT1 GTF2E2 MYORG RAPSN TTC37 CD28 NPC2 RERE IL7R C1S SEPTIN9 SLC2A10 FCGR2C MLXIPL TNFRSF1A IKZF1 ACP5 RARA NKX2-5 SLC17A9 TMC8 EPAS1 GTPBP3 TFR2 DOK7 MAP2K1 PCNT ATP6AP1 SNX10 SMARCA4 FIP1L1 ETFA TNPO3 HLA-DPA1 HERC2 IER3IP1 PLOD3 SLC25A13 TRAF3IP2 HPS6 PSAT1 DPF2 CENPE ATP6V1A FANCD2 PROP1 HR ETFB SULT2B1 KLLN SBDS ENG GTF2I LMX1B PRKACG FLI1 TSHB ATP7B DNASE1L3 COL12A1 RASGRP1 COG5 SLCO1B1 POLG2 RNF168 PTF1A ALAS2 BMPR1A POU2AF1 COX4I2 CLPX TMEM260 EPHB2 TP53 FRG1 VIPAS39 EBP MT-TW MKRN3 PTPN3 TMEM127 GATA2 TBXA2R KRT83 HPS1 SERPINA1 LPL CPN1 IYD STING1 TBL2 SIK3 POLD1 DNASE1 AP1S1 MAX SETX KIF1B ITGB2 USF3 FDPS LIPA STUB1 CDSN CDAN1 HLA-DQB1 NHP2 CD109 EIF2AK3 BLOC1S3 SCN1A USB1 KRIT1 CLEC7A EVC PGAP3 MRE11 HOXC13 AMACR FOXE3 MCFD2 ALDOA JAM2 HBA2 ALOX12B HP_LOCALIZED_SKIN_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_SKIN_LESION KMT2D KRT14 SMARCAL1 CTBP1 MTAP TSC2 IL17F KRAS KCNAB2 ARHGAP31 TCOF1 MVK ARID1B PTEN REEP6 STK11 XPA PTH1R TP63 SOX9 KIAA1549 TCF4 ERCC3 RRAS2 MEFV UBE3B CTLA4 BRIP1 ASAH1 LORICRIN SETBP1 SIX1 KRT5 MED25 PKP1 CBL STAT3 TTC37 ATM COX7B KMT2A GSC RDH12 HCCS TERT GLA CCR1 COL7A1 DHPS CCR6 PTCH1 DSP LAMC2 NCAPG2 ATP7A RAF1 TEK TMC6 DLG4 HRAS SLC37A4 TFAP2A CEP57 PDGFRB PLEC CHST14 SLC7A14 GNAS KIT EDNRA BCL2 MRAS SLX4 PTCH2 INSR AGBL5 WRN CHRNG DVL1 BRAF SUFU NRAS ABCG8 C4A BUB3 PDE8B ERCC2 BEST1 ANTXR2 FANCA DSTYK H1-4 KDM6B KLHL7 RET DSE FANCI NCF4 LYST COL17A1 BMS1 CHUK RAB23 KRT10 EDNRB TAF1 XRCC2 TERF2IP PTPN22 NKX2-5 OFD1 MMP1 COL5A2 ZFPM2 SALL4 FGFR2 GHR LRP5 OCRL SUZ12 EBP TP53 GATA6 WNT5A ERCC4 TINF2 ABCA1 MBTPS2 ARL6 GTF2IRD1 UFD1 LETM1 FANCB LEMD3 CDHR1 FAS CTC1 MYH3 ATP6V1B2 BAP1 CNGA1 LPIN2 FANCM DHDDS TAP1 IRF5 TBX1 GPC1 FANCE KITLG LDLR ERCC6 WIPF1 NF2 GPC4 HBB ZMPSTE24 EP300 DLL4 CARD14 ALX3 VANGL1 NEK2 IRF6 ANKRD11 EXTL3 MAP2K2 SIN3A MAK PDE4D MMP2 CLIP2 BBS2 COMT XYLT1 WAS HLA-DRB1 IL23R FANCL ERF EFTUD2 ERAP1 MAFB PSTPIP1 APC C8orf37 PCGF2 USP8 NOTCH1 TTPA HIRA DKC1 STEAP3 RBM28 TGFBR2 RETREG1 AKT1 SOX10 CERKL NCSTN CRIPT PTDSS1 CPLX1 CREBBP OTUD6B PRKAR1A SEC23B MITF SOS1 ALX4 GSN GNAI3 NSD2 HLA-B GATA5 FANCG KCNK9 MAD2L2 DDB2 MED12 TRPV3 ANAPC1 VPS13B PRPF4 SLC4A1 TUB TTC8 ALPL CCT5 TERC CAV1 XYLT2 PRKACA CDKN1C ERMARD APOA2 PIGN RPL10 BLM ABL1 RIT1 NCF1 JAG1 KCNQ1 TNFRSF11A HGSNAT DSC3 ALX1 FAT4 EYA1 PDGFB KIF1B ARHGEF18 CIB1 KRT6A RP1 RECQL4 CDKN2B SMAD3 POLR3A BRCA2 PALB2 HAVCR2 FGFR1 ITGB4 SDHD CCL2 XPC PIK3CA SMARCAD1 VHL IL17RC EIF2AK3 PPP1CB A2ML1 ABCC6 SNAI2 ERCC5 GUCA1B PDE6G COL2A1 PIGL APOE LAMA3 GGCX B3GLCT SALL1 CDKN1B PRDM16 FZD2 EDA IDH3B GNA14 PLOD1 WASF1 TRPM4 LMNA GJB2 UROS TXNL4A KRT2 GDNF RREB1 LIPH PDE6B HOXA13 GJB6 ARFGEF2 TRAF6 PMVK TMCO1 TRIM37 MEN1 MSH2 GPNMB SPATA7 FANCC NXN FLNA SEMA5A CYLD AQP5 TMTC3 CTSC FLT4 EED SOX18 PSMD12 KCNJ2 RPGR COL1A1 SLC25A24 FANCD2 NF1 APOA5 AEBP1 IKBKG RIPK4 SLC39A4 LIFR TWIST2 NAA10 BAZ1B EDN3 FGFR3 PAFAH1B1 PCSK9 UBA1 POT1 BCOR TBX4 CDKN1A GP1BB REV3L NEDD4L POLH NONO GFI1 RAD51 MC1R KDF1 PLCB4 PCNT EYS COL3A1 LIG4 RGR EDARADD IFNG YWHAE PAX3 SMC3 RTEL1 KIF15 ESCO2 ERGIC1 IL12B IRX5 CDK4 COL1A2 AIRE STAT4 SF3B4 NECTIN1 GATA4 SMC1A NFIX RAD51C PUF60 DIS3L2 CDH23 BTNL2 VANGL2 PRKD1 CTNND2 SDHB PGM3 CDC42 GLMN USH2A SH3BP2 ATP2A2 RP2 LZTR1 CCDC22 IFT172 KIF11 PDE11A TYR FAM161A ATP2C1 RPE65 CCN2 PARN EOGT IDH2 TSC1 ARL6IP6 ASXL2 KDM5C CTCF HIC1 KDSR SPTA1 FBN1 ARL3 PHIP LRAT GABRD CDK10 TBXT MERTK TGM5 PERP APOA1 PSAP DPAGT1 FUZ POMGNT1 RRAS ZSWIM6 KIF7 NDUFB11 MPL GBE1 ANTXR1 LTBP2 KDM6A B4GALT7 CRB1 IL7 EPHX2 DOCK8 LIMK1 LRP1 LBR ABCB6 EDAR EPB42 PRPF6 SIX5 ELN IL12A-AS1 SLC6A19 MLX LPAR6 C1R MED13L PORCN WRAP53 ADA2 CTNNB1 FGFRL1 MMP14 NGF ZNF408 ITGA6 CHRNA7 RHOA KANSL1 KLRC4 ERCC8 IL6 DDIT3 ROR2 HMGA2 DCHS1 POLR1D MPV17 SPECC1L IGF2 SHANK3 GJA1 CYBC1 MTOR MGP HSPA9 DOCK6 MYSM1 MGMT TOP3A CLDN1 KIAA0319L MCTP2 NOD2 ARVCF CRX RERE MASP1 PTPN11 SKI RBP3 CNGB1 LAMB3 SDHC RBPJ ZNF513 UBR1 LDLRAP1 GALC NTRK1 IFT140 EXT2 PUS3 TNFRSF11B ARMC5 TREX1 HLA-DPB1 PPARG UBE2T ANK1 EDN1 HNRNPK ADAMTS2 ACTB SOS2 CDKN2C PYCR1 CTNND1 IL12A RFC2 CDKN2A KIZ SRP54 KRT16 NCF2 SLC39A13 IDH1 DHCR24 PRPF8 ACD CSTA C1S GORAB SKIV2L JMJD1C ST3GAL5 G6PC FERMT3 WNK1 ENPP1 JUP ABCA4 AUTS2 PPOX MSX1 NELFA DVL3 SYT1 NRL PAX1 GJB4 NSUN2 GNAQ SASH1 POLR1C GJB3 CITED2 PROC ECM1 PROM1 PIK3R1 MSX2 BRCA1 BUB1B PRTN3 ZNF469 CYBB TCIRG1 IMPDH1 PRCD LIPC NEK9 SMPD1 COL5A1 DEAF1 KCNQ1OT1 RMRP CA4 AIP IL17RA MSH6 NR2E3 PMS2 BUB1 PCARE PIGS ADAR USP9X CPOX SEC24C MAX PRMT7 TNFRSF1B CLRN1 AHR SATB2 GPC3 RASA1 CYBA GDF1 SPTB NAGA KRT17 STAG2 NOP10 SMO RBM8A RFWD3 MLH1 CDH1 TGFB2 MDM2 FUS TMEM127 POFUT1 TOPORS PROS1 SCAPER UROD APOB ARL2BP FKBP14 CDH3 UBE2A SEMA3E FANCF CHD7 TRIP13 FERMT1 SPRED1 PRPF3 KRT1 B9D2 ALDH18A1 KAT6A BCL6 CD28 HDAC8 ASXL1 RBBP8 FGF3 CYP27A1 TNFRSF1A IGF1 CYP1B1 IKZF1 UBAC2 ACP5 CARMIL2 EGFR TMC8 APOC2 PPP1R17 SLC2A10 MAP2K1 CHN1 TAPBP NSMCE2 SLC17A9 AHI1 AK2 SAG TGFBR1 HLA-DPA1 TLR4 TRAF3IP2 MYOC NKX2-6 CUL4B NOTCH2 DACT1 ACVR1 KLLN ELANE LPL PLXND1 GTF2I DHX38 IDH3A RASA2 IL10 RHO NPM1 RP9 IARS2 CYP26C1 SLC29A3 KIF1A RLBP1 NOTCH3 TMEM260 FLCN ABCG5 KRT83 ORC1 TAP2 HPS1 WASHC5 HNRNPU SPTLC2 PRPH2 ELOVL4 ROM1 NLRP3 TBL2 NAXE POLD1 FLNB PEPD ARF1 SEMA4A GJA5 TULP1 SNRNP200 IFT88 ITGB2 USF3 KCTD1 FSCN2 SCN9A GRHL3 DST FKBP10 HLA-DQB1 NHP2 NBN CWC27 TNXB IMPG2 BTK MAN1B1 USB1 PRPF31 KRT6B CLEC7A MAP1B GATA1 PDE6A CD96 HP_REGIONAL_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REGIONAL_ABNORMALITY_OF_SKIN TWIST1 KMT2D GLE1 CTBP1 LIMK1 MYH3 B4GALT7 TSC2 ARID1B TP63 TCF4 RRAS2 ELN MBTPS2 DDX11 SDR9C7 CTSB ATR GPR35 KRT5 MED25 ATP6V1B2 CHRNG STAT3 FGFRL1 KCNH1 MMP14 CHD7 FKBP10 ITGA6 PTCH1 XPC SOX11 KANSL1 COL17A1 SMARCAD1 SHOC2 TELO2 KRT9 ROR2 NECTIN1 HRAS KRT83 TFAP2A SEMA3E PLEC FGD1 CHST14 CHRND BCOR CKAP2L ZC4H2 MRAS PEX12 CTCF ESCO2 PTCH2 BRAF SUFU RAD21 MCTP2 RSPO1 PIGN C1R NFKB2 MST1 DSE EXT1 BRF1 LAMB3 ITGB4 PHGDH SLC18A3 AAAS GJB6 UBR1 GDF5 RHBDF2 FGFR2 KRT14 SMC1A PEX1 HNRNPK USB1 GTF2IRD1 GJB2 SOS2 LETM1 STAG1 PEX6 GPKOW RBM10 RPL10 PORCN TGM1 SPECC1L PEX19 RFC2 RAB3GAP1 TSC1 SLC39A13 FOXP1 EP300 DSP NSD2 IRF6 SIN3A LMNA CSTA MMP2 ATP2A2 CLIP2 MTOR DOK7 LBR PLAA WNK1 PEX5 ERCC6 WNT10A ATP6V0A2 AUTS2 COL7A1 DKC1 LAMC2 RETREG1 CEP55 STXBP1 CD151 PAX1 CPLX1 NAA10 CREBBP RAB11B SOS1 EMC1 COG6 EZH2 NALCN ZNF469 GSN KDSR SOX4 KRT10 PEX2 PNPLA6 TNNT3 DDB2 MED12 TERT SLC25A24 NBAS TRPV3 KDM6A RNU4ATAC ARID1A RAF1 RIN2 SMARCE1 RAB3GAP2 ERCC2 KMT2A PIEZO2 TRPS1 PIGS RIT1 NOG ARID2 GMPPA HDAC4 TNNI2 NGLY1 XYLT1 BMP4 EYA1 ERCC4 DOCK6 IFT122 CIB1 RB1 HDAC8 PEX16 NUP88 LIFR DHCR7 GPC6 BMPR1B SMARCC2 KRT17 G6PC3 AMACR KAT6B A2ML1 SALL4 SETBP1 SMARCD1 NUP188 ERCC5 SLURP1 KRT1 FGF9 SLC39A4 PLOD2 SLCO2A1 COL2A1 PIGL TPM2 NIPBL LAMA3 B3GLCT ADAM17 PLOD1 NHP2 CTSC PEX13 PKP1 PEX10 PEX11B HOXA13 UBE2A UBE3B AKT1 ADNP GPR101 FERMT1 RIPK4 TCF12 FIG4 SMC3 ATRX AAGAB NXN DLX4 YY1 ASXL1 KRAS IFT57 AIP SMARCB1 DHODH SOX18 IGF1 LMX1B APC ABCC9 NRAS BHLHA9 MAP2K1 BAZ1B EXTL3 PIK3CA PEX26 CCBE1 SMARCA4 UBA1 CBL SMOC1 TBX4 PLOD3 DPF2 RAPSN VPS33A SLC16A2 HPGD PEX14 GATA1 GTF2I XPA ERCC3 LRP4 PTEN MAP2K2 KCNN3 RASA2 THOC2 FGFR3 CHST3 EHMT1 KRT6A RPS23 KIF1A PUF60 VPS13B DIS3L2 ANKRD11 KCNJ8 TBL1XR1 ADAMTSL1 NECTIN4 DPH1 OFD1 SETD5 CHRNA1 LZTR1 PACS1 PTPN11 MYOD1 PPP2CA ASXL2 TBL2 TGDS PEPD PEX3 GJA1 VAC14 CDK10 NOP10 SCN9A EFNB1 TGM5 PERP MUSK KRT16 DPAGT1 RRAS PSAT1 ZMPSTE24 SERPINB7 TRAPPC11 RPS6KA3 CD96 HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR TYR MYO5A MLPH TERT RAB27A RMRP PDE4D NHP2 RTEL1 PRKAR1A ESCO2 DKC1 ABCA2 UBR1 SLC17A5 PARN UBE3A NOP10 TP63 PAX3 UROC1 USB1 TGM3 PADI3 TINF2 CTC1 GNPTAB LPAR6 DSTYK NPM1 ACD PMPCA TERC AP3B1 WRAP53 PAH PIGN LYST HP_DRY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_HAIR ASL PQBP1 RPL21 BCS1L KRT74 GNPTAB KRT17 PADI3 ERCC6 GJA1 WNT10A LPAR6 ERCC8 HP_ACQUIRED_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN KDM5C NR3C1 HR DMPK TGM3 ITGB4 ECM1 PADI3 DSG4 APC TP63 WNT4 CNBP KRT83 KRT81 ANTXR1 IKBKG PORCN COL17A1 KRT86 NECTIN4 HP_CONGENITAL_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ABNORMAL_HAIR_PATTERN TWIST1 CTBP1 PPP1CB ARID1A MYO18B FRMD4A STAG2 TCOF1 PEX19 GDF6 A2ML1 CCNK COG7 LIG4 RRAS2 SRCAP BRCA1 DPM2 PWAR1 SETD2 MED13L EMC1 NIPBL GNE SMC1A TSC1 NSD1 FGFR3 FGFRL1 SHOC2 HSPG2 TBX15 GDF3 FRAS1 UBE2A ADNP PEX6 NPAP1 WASHC5 POLR1D SPRED1 TMCO1 PHF8 SPECC1L TCF12 SMC3 ACTB CDH1 SMARCA2 TRMT10A TFAP2A KCNH1 FGD1 DLX4 SLC12A6 HDAC8 YY1 ZC4H2 ASXL1 NRXN1 MRAS MAN2B1 INSR KRAS WRN CHRNG LETM1 BRAF RAD21 IGF1 NF1 AIFM1 RERE ABCC9 NRAS KLHL7 AEBP1 NDN LRP2 LRPPRC MAP2K1 CHN1 UBR1 DOCK7 CBL SIN3A TBX2 SALL4 STAMBP FGFR2 TWIST2 MEOX1 HERC2 MAGEL2 THOC6 TECPR2 ACTG1 SOS2 XYLT2 SNORD115-1 FLNA KRT85 MYH3 NOTCH2 CHST3 SMARCD1 NOTCH3 RAB3GAP1 ZIC1 MID1 XRCC4 FOXP1 EP300 RAB3GAP2 PPP1R15B ALX3 NSD2 MAP2K2 RASA2 APC SNRPN IRX5 COG5 KREMEN1 SH2B1 NFIX SLC9A7 MAFB TAF6 TBC1D20 NANS NELFA SYT1 SLC25A24 SRY CPLX1 NSUN2 CREBBP KCNJ8 MKRN3 POLR1C KDM1A UGP2 LMNA IFIH1 ATP6V1B2 TBL1XR1 TBC1D24 SOS1 SETD5 PTPN11 LZTR1 MAP3K7 PACS1 RAB18 B3GAT3 SNORD116-1 MED12 SMARCE1 CNTNAP2 PPP2R1A VPS13B ERMARD RAF1 PEPD PIK3C2A EFNB1 PWRN1 KMT2A HUWE1 RIT1 INTU SLC35C1 CWC27 CCDC22 RRAS ALX1 MAN1B1 ANKRD11 ARX NBN DOCK6 MAB21L1 WNT4 ALDOA MEIS2 PEX1 HP_ABNORMAL_HAIR_QUANTITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_QUANTITY WNT10B KMT2D ELMO2 EDARADD RAG1 DSG1 INSR FRMD4A NKX6-2 CCDC141 KCNAB2 ARHGAP31 SGSH TCOF1 ARID1B PTEN KRT81 RAB3GAP1 TP63 PNPLA6 EDA2R KISS1 RRAS2 UBE3B HR MBTPS2 FLI1 NDUFS7 MED25 DYNC2LI1 RAG2 PKP1 CBL SPRY4 TACR3 CHMP1A KCNH1 FGF17 GJA1 SMO CACNA1G KMT2A GNA11 SHOC2 BANF1 TERT SF3B4 NR5A1 MT-ND4 TTC7A DSP BPTF ATP7A SEC23A SRD5A3 TRIM32 KCNK4 ORC6 SLC7A7 NECTIN1 HRAS RNF113A SETBP1 RAI1 TFAP2A PLEC XRCC4 BMP15 BSCL2 LMNB2 KIT IFT43 CKAP2L EDNRA ESCO2 MRAS NEK1 FTL CST6 COL7A1 NDUFA12 MITF WRN CERS3 GNRHR DSG4 WDR11 SMARCB1 BRAF BBS4 NRAS RAD21 HGSNAT NFIX OFD1 BCS1L ABCA12 KRT25 KDM1A KLHL7 FGFR1 ARSB PEX7 BRF1 NDUFV1 COL17A1 RAB18 UROD GJB6 TAF1 EVC2 TBC1D20 MPLKIP KRT71 PTPN22 DLX3 CDON MMP1 OCRL SUZ12 SDHA TP53 DCAF17 CDSN ERCC2 AGPAT2 TINF2 DCLRE1C NUP107 CTC1 TGM1 CSTB ERCC6 ZMPSTE24 LSS DPF2 EP300 HFE DEAF1 PHF6 MMP2 STAT4 RMRP PRKACA ERCC3 PLAA POLR3H ITGA3 PCGF2 ATP6V0A2 USP8 NANS NOTCH1 DMPK DKC1 BTD RBM28 SNRPE AKT1 RNF125 PTDSS1 CREBBP TMEM94 UGP2 DNAJC21 ATP6V1B2 DUSP6 IRAK1 MEN1 SOS1 EZH2 GSN MT-ND6 TMCO1 TRIO FREM1 CHRNA7 TRPS1 CHD7 COL18A1 DDB2 TRPV3 PLK4 ANAPC1 FOXP3 VPS13B PACS1 NDUFA10 TALDO1 RAF1 RIN2 AR SMARCE1 PIK3R1 MTFMT TERC MED12 CYP17A1 PIGN RPL10 NDUFAF3 RIT1 IL2RA NIPAL4 ATR TRAIP ST14 PSMC3IP ARID2 TUBB NDUFA4 LMNA CAVIN1 XYLT1 CLDN1 IGF1R DSC3 ALX1 NSMF NUS1 NBN ERCC4 IFT122 ITGB6 KRT6A CWF19L1 RECQL4 EPS8L3 MT-TL1 POLR3A DNMT3A HDAC8 LIPN KISS1R ITGB4 SDR9C7 ABCC9 WNT4 FLRT3 KRT10 CEP152 NDUFB8 SLC1A4 CDH3 NF1 PPP1CB A2ML1 SNAI2 SMARCD1 MT-TF ERCC5 PADI3 ALMS1 KRAS BRCA1 CCDC28B NDUFA13 SLCO2A1 PIGL AXL RNU4ATAC B3GALT6 LAMA3 CYP4F22 B3GLCT PRDM16 DMXL2 FZD2 EDA BBS5 GNA14 HLCS MSTO1 TBCK NHP2 DHX37 CANT1 UROS MT-ND1 KANK2 MAP3K1 COG4 TWIST2 LIPH TRAF6 BMP2 ABCD1 BCORL1 CHSY1 GLI3 CDH1 TRMT10A NXN BLM LIG4 MKS1 APCDD1 GJB2 NAGLU TBX15 MAN2B1 CTSC IKBKG SRY ALOXE3 SOX18 PPP2R3C ANOS1 SLC25A24 NFKB2 RIPK4 COX10 SLC39A4 KRT14 ADA FLNA VPS37A BCL11B MT-TS2 CCBE1 KRT86 CTLA4 SIN3A GATA4 WDPCP EXOSC2 TLK2 UBR1 EBP KCTD1 BBS12 KRT85 MC1R CERT1 TACO1 KDF1 SOX10 PCNT ADAT3 IDUA IFT27 ZIC2 TWIST1 ZNF711 WDR19 SDCCAG8 PAX3 SMC3 RTEL1 LAMC2 MAP2K2 NDUFV2 GATAD2B ATRIP ZBTB20 AIRE SURF1 SRA1 BBS7 UQCRFS1 CBS TAF6 DPH1 SMC1A KAT6B CENPJ ADAMTS3 PACS2 CDH23 BTNL2 PRKD1 JUP SOX9 EDAR CDC42 PDHA1 BBS1 POP1 ALG9 NECTIN4 CD28 CASR POC1A FLII SETD5 IL7R LZTR1 MAP3K7 IL2RG POR ALOX12B DOCK7 NFKB1 AXIN2 WNT5A NDUFS2 MGAT2 PARN EOGT EDNRB KDM5C CTCF RBBP8 C8orf37 PRKAR1A NPHP1 KDSR PHIP GABRD NR0B1 TBCD FOXE1 DMRT3 CDK10 SMARCA4 ATP6V1E1 PERP HLA-DRB1 GNRH1 RRAS FAS SPINK5 IFT172 CUL4B CYP11B1 HSPG2 MAB21L1 MCCC2 FAT4 ANTXR1 WNT10A KDM6A TBX3 B4GALT7 SNX14 SMS CCDC47 NDUFS1 PDGFRB KLHL24 FMR1 LIPT1 LRP1 WDR35 GNAS KIFBP AFF4 FSHR FSHB MAPRE2 ARX COG7 ARL6 NDUFS8 KRT74 ECHS1 LPAR6 PORCN WRAP53 FUT8 MMP14 HSD3B2 NSDHL XPC RHOA SOX11 PET100 AEBP1 ERCC8 GATA1 NDUFAF2 SMARCD2 EVC ROR2 HMGA2 HPD MT-TQ POLR1D SCO2 SMARCA2 RPL21 MGP SRCAP VPS33A HSPA9 DOCK6 EDN3 MT-CO3 DLL4 UQCC2 EXT1 SMCHD1 AHSG LRPPRC IQSEC2 SKI LAMB3 RBPJ ABHD5 MED13 FOXRED1 FOS EXT2 CYB5A DHX30 SPP1 IL1RAPL1 ARMC5 LEMD3 PPARG ASXL3 MAF HS6ST1 SOS2 STAG1 MT-TH SLC19A3 CTNND1 CAV1 PSMD12 CDH11 GTPBP2 KRT16 BBS10 LTBP3 PROKR2 DVL1 BBS9 PNPLA1 BBS2 KCNMA1 VAMP7 IRF6 GLB1 FOXN1 ACVR1 LZTFL1 VDR TTI2 CDKL5 DVL3 MT-CO1 GJB4 NSUN2 H6PD IDS POLR1C GJB3 MT-ND5 LHB ECM1 NFKBIA ACD EHMT1 PHF8 SOX4 TARS1 COX15 SULT2B1 ABCA5 ALX4 MKKS ARID1A CSNK2A1 NTRK1 AIP BNC1 PPP1R15B NDUFA2 SEMA3E SATB2 MT-CO2 USP9X CPOX HDAC4 DOLK KRT83 FGF8 FGFR2 MRPS22 NDUFA9 TNFRSF1B SMARCC2 TTC8 NDUFAF6 TRMT1 PHGDH KRT17 NOP10 SHROOM4 ZFPM2 WWOX PYCR1 RAB3GAP2 SETD2 NIPBL GNE GTF2H5 SLC29A3 ASL GNS POLR3B TSR2 PROK2 COL11A1 FRAS1 UBE2A ADNP PEX6 ADAMTS2 GPR101 CDK5 FIG4 GTF2E2 ALDH18A1 ZNF341 CYP19A1 SUCLA2 AIMP2 TTC37 DLX4 RERE ASXL1 HTRA1 NDUFAF5 RUSC2 COL3A1 UGDH APOE FGF3 MAP2K1 WAC HLA-DRA TRAPPC9 CEP290 FAM111B CENPE NOTCH2 SLITRK1 MBD5 ATP6V1A NR3C1 SASH1 XPA IFT52 TAC3 KCNN3 RASA2 FEZF1 NPM1 KREMEN1 SPIDR SKIV2L KLF13 PQBP1 GLI1 ANKRD11 KCNJ8 MT-TW WT1 EBF3 PTPN11 HNRNPU NDUFS3 NDUFS4 PEPD CLMP IL17RD TUBGCP2 VAC14 FHL1 KNL1 STUB1 MSX1 AP1B1 BBIP1 CWC27 HPGD BTK SMAD4 USB1 TGM3 KRT6B HOXC13 SPATA5 ERLIN2 GUSB SLC30A2 PUF60 PAPSS2 PEX1 WDR81 HP_WHITE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_HAIR TYR PAX3 USB1 TGM3 TERT PADI3 TINF2 CTC1 NHP2 RTEL1 GNPTAB DKC1 NPM1 NOP10 PMPCA TERC PARN WRAP53 MYO5A LYST HP_PATCHY_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR TFAP2A PAX3 SNAI2 CHN1 EDNRB SOX10 KIT MAFB EDN3 MITF KITLG PTPN22 WRN FAS SALL4 PEPD LMNA TMCO1 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 LZTR1 RIT1 FOXI1 PTPN11 MRAS CBL SLC26A4 RRAS A2ML1 KRAS SOX10 RRAS2 SEMA3E RAF1 RASA2 KCNJ10 CHD7 ESRP1 FGFR2 SOS2 NRAS SOS1 HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL KRAS SOX10 RRAS2 LZTR1 RAF1 RIT1 PTPN11 RASA2 MRAS SOS2 CBL NRAS SOS1 RRAS A2ML1 HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL FGFR2 TWIST1 POU3F4 GJB2 EYA1 ERF CHN1 TCOF1 MAFB POLR1C PRRX1 GJB6 POLR1D FGFR3 OTX2 PTEN SIX1 AKT1 SALL4 HP_NARROW_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_INTERNAL_AUDITORY_CANAL FGFR2 TWIST1 ERF CHN1 TCOF1 MAFB POLR1C PRRX1 POLR1D FGFR3 OTX2 PTEN AKT1 SALL4 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_INNER_EAR TWIST1 ARSG LZTR1 GJB2 FOXI1 EYA1 PTPN11 PRRX1 MRAS OTX2 PTEN A2ML1 FGFR2 MYO7A CIB2 PEX6 FGF3 POU3F4 RRAS2 SIX5 RAF1 SLC26A4 RASA2 CLRN1 ESRP1 DDX11 FGFR3 SOX10 NRAS ESPN RIT1 SIX1 ERF CHN1 TCOF1 MAFB SLC52A2 TIMM8A NDP CBL KCNJ10 CEP78 RRAS AKT1 SALL4 KRAS SEMA3E CDH23 PCDH15 CHD7 POLR1C USH1C COL4A6 GJB6 USH1G POLR1D HARS1 SOS2 MT-TS2 SOS1 ORC1 SETBP1 COCH HP_CENTRAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOTONIA MYO9A NALCN TH VPS11 PEX13 PLAA VAMP1 COL13A1 AGRN PEX19 SNAP25 KDM6A CHAT COQ8A PYCR2 CACNA1B SLC5A7 AIFM1 SYT2 SLC18A3 UNC80 PIGA PEX14 SLC25A1 ST3GAL3 HP_ABNORMAL_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CNS_MYELINATION SHANK3 PIGY VPS11 NDUFS1 NDUFAF6 LIPT1 NDUFAF5 EIF2B3 MPLKIP GLUL TREX1 ATP6V1A EIF2B4 NKX6-2 PSAP NDUFB8 PEX19 NARS2 SLC1A4 SURF1 POLR3B MT-ND2 POLR3A ERCC3 SPTAN1 NUBPL NUP188 ASPA NDUFS8 NADK2 PARS2 SMG9 NDUFA13 MT-ND3 ZNF335 ECHS1 PDYN NDUFS7 ADSL BOLA3 PLEKHG2 ISCA1 SPATA5 GTF2H5 RNASEH2A HLA-DRB1 PHGDH NDUFS3 GALC TUFM PET100 ACTL6B NDUFV2 ERCC8 NDUFAF2 ALDH3A2 EDNRB SAMHD1 MTHFS WDR26 ABAT PC HLA-DQB1 PNPT1 MMUT GAN SNIP1 GTF2E2 SCO2 NDUFS2 NDUFB11 ACOX1 FAM126A RNF113A PRKDC ALG9 TRMT10A L2HGDH AIMP2 PDCD1 TBCD CTNNB1 PEX1 INSR TIMMDC1 GJC2 RARS1 NDUFAF8 NDUFB10 HTRA1 SP110 CYB5A CNTNAP1 UGDH PURA AIFM1 BCS1L RERE ARSA KDM1A PLP1 COX10 NDUFS6 FA2H PEX7 FOXRED1 NDUFV1 LRPPRC GTPBP3 MT-ND1 EIF2B5 NDUFS4 NDUFAF4 TRAPPC11 RNASEH2B EIF2B2 BCAP31 MTTP SDHA GLRX5 SHPK HSD17B4 RMND1 EPRS1 NDUFAF3 LIAS PIGV TMEM126B CTC1 SLC19A3 DARS2 TACO1 GPT2 AIMP1 TUBB4A ERCC6 CSF1R ADAT3 LMX1B PPP1R15B NDUFA12 ITPA GFAP TXN2 POGZ NDUFA6 ISCA2 D2HGDH ADGRG1 TMEM106B PRPS1 STXBP1 PIGO IBA57 ACER3 COX15 PIGL ADAR TKFC IFIH1 SOX10 SLC12A5 DARS1 NDUFA1 ERCC2 PDHA1 NDUFA11 CLTCL1 IDUA HIKESHI GAA TARS1 ATXN2 LMNB1 DDOST NDUFAF1 GDAP1 FBXL4 PEX13 AHCY NDUFA10 ACY1 DHX37 PIGW RBM8A EIF2B1 RNASEH2C PYCR2 MTFMT TBC1D24 NDUFB3 KIDINS220 DAG1 PEX16 NDUFA2 NDUFB9 POLR1C SUMF1 INTU UPB1 NDUFA4 CYB5R3 MAT1A BMP4 SNORD118 QARS1 NDUFA9 SLC25A12 PGAP3 MCOLN1 RNASET2 PIGG AARS1 PGAP2 HSPD1 SLC33A1 SLC16A2 HP_ABNORMALITY_OF_PLACENTAL_MEMBRANES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PLACENTAL_MEMBRANES GLE1 GJB2 SMARCAD1 FERMT1 TBC1D24 POMP LORICRIN HP_CAESARIAN_SECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAESARIAN_SECTION CACNA1D CYP11B2 OPA1 POLR3A CYP11B1 TAF1 HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION SLC12A1 CLCNKB KLHL3 CLCNKA SLC26A3 BSND WNK1 WNK4 KCNJ1 MAGED2 CUL3 HP_FETAL_ULTRASOUND_SOFT_MARKER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_ULTRASOUND_SOFT_MARKER PIGY C9orf72 PEX14 LZTR1 HOXD13 CCDC22 PACS1 PTPN11 WNT3 MKS1 PEX11B MRAS PEX10 GATA1 MAPT VCP PEX16 GRN GATA6 A2ML1 FANCB RRAS2 HRAS RAF1 PIGW MCTP2 RASA2 PEX13 TRAF7 PIGN TMEM106B EFNB1 SLC26A2 RNU4ATAC TRIP11 POR PSEN1 NRAS PEX12 ABCC6 HSPG2 RIT1 TREM2 FOXF1 PIGO PEX1 ENPP1 CHMP2B PEX3 PEX5 UBA1 CBL DMPK RRAS PIGL SCARF2 TBCK KRAS PEX6 TAPT1 EBP BNC2 SQSTM1 PEX26 PGAP3 WASHC5 PEX2 HNRNPK COL2A1 PSAT1 SOS2 TBC1D24 PGAP2 SOS1 ALG9 PIGV PEX19 OFD1 SLC35A2 HP_ABNORMALITY_OF_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COORDINATION PDGFRB MICOS13 CAMTA1 HEPACAM GLB1 SLC6A8 SDCCAG8 GLRA1 CHD2 NEB CLN6 ELP1 FRMD4A NKX6-2 FKRP FMR1 PMP22 TOMM40 GBA SLC13A5 RUBCN TSFM SCN8A XPA TIA1 DMXL2 TCF4 POLG SPTBN2 ERCC3 MEFV NDUFV1 ATP1A3 MAG KCNJ11 NEFL CLRN1 OGDH CC2D2A SACS CRAT CLTC SLC2A1 NDUFS7 ADSL BOLA3 WASHC5 TMEM138 NSD1 ATM OPA3 CACNA1G CACNB4 TERT DNAL4 HLA-DRB1 CCR1 WWOX CEP41 NR5A1 DHDDS MT-ATP8 MT-ND4 PRRT2 RAD50 NDUFS3 ATP2B3 AUH ANOS1 KIF1A TWNK B9D1 NUP62 GIGYF2 COLQ GJA1 USH1C DNMT1 AKT1 MT-TK SDHB HLA-DQB1 MT-TL1 TTPA NDUFAF6 PNPLA6 RPIA RNF113A HIBCH ATP6AP2 PIGQ COQ2 XRCC4 BMP15 DLD INPP5E KIT UCHL1 COL6A1 TCTN2 PHYH STUB1 MECP2 DHFR CACNA1B KCNC3 KIF5A SARDH COX8A C12orf4 AFF2 SLC19A2 YWHAG C4A ERCC2 MBD5 MT-CYB TPM2 ARL3 GABRG2 BCS1L SCARB2 VRK1 ARSA SQSTM1 PLP1 MME WFS1 TRAPPC11 NDUFS6 FA2H LYST MTPAP PNKP RFC1 TCTN1 DOCK3 COA7 ALDH18A1 ARHGEF2 FLRT3 SLC9A1 SGCG TAF1 KISS1R TPP1 GMPPB OFD1 OPA1 MFSD8 ABHD12 JAM2 MTTP SDHA ADSS1 SRD5A3 ARL13B ATXN8OS SUFU NEXMIF ERCC4 SCN1B ATAD3A MICU1 EEF1A2 MAGEL2 KCNB1 TUBB4A NPHP1 ACAT1 USH1G PMM2 CEP104 GTF2IRD1 MT-ND5 COG8 NUP107 NDUFS8 SDHD NDUFAF3 NF2 FAS KIAA0586 SNORD115-1 TMEM126B NPC1 CTC1 HACE1 MRE11 GAMT TARDBP RARS1 KCTD7 PSAP ETHE1 PLA2G6 TTC19 AGRN SGCA CLN5 ERCC6 SMO COX6B1 MTR LMBRD1 SLC9A6 LRRK2 GPHN PRKCG PPP2R5D DCC COX14 FHL1 PEX2 ATP7B MKS1 EP300 POU3F4 PLD3 PRDM8 ARMC9 SCN1A BAP1 CTBP1 SPG7 SNRPN CACNA2D2 CLIP2 GCK HESX1 PIGP SIL1 ZFYVE26 C19orf12 NFIX PIK3R5 IL23R MT-ATP6 POLR3H ERAP1 GJC2 DCHS1 UBA5 ATP13A2 NDUFS2 NOP56 NEU1 PDHX ATP6V0A2 NANS DMPK CEP78 DKC1 BTD PEX19 DKK1 RNF125 UQCRQ HARS1 DNAJC5 MLC1 CREBBP TPK1 ATN1 ATP1A2 GNAO1 TMEM107 MT-TF SEC23B SLC25A1 PARS2 ACADM FAT2 MAST1 EZH2 IRF2BPL GSN MT-ND6 RRM2B GALC NSD2 HLA-B EEF2 LMNB1 PROKR2 SLC22A5 MT-ND4L HMGCL COL18A1 DDB2 APP ATXN7 IQCB1 ACOX2 FKTN CHAMP1 SPART HINT1 NDUFA10 SCN9A GLRB NDUFS1 SLC4A1 TANGO2 KCNA1 RFXANK MT-ND3 MPZ SLC18A3 NKX2-1 MTFMT TERC SOX10 NDUFB3 PWRN1 KCNJ10 HUWE1 PTEN BRAT1 PIGT FGF12 RPL10 PIBF1 PSMC3IP SCN2A CCDC88C NDUFA4 FTL GDAP2 KCNA2 EIF2S3 ABCC8 MT-ND2 TTN GFPT1 EIF4G1 PDHA1 GJB1 AP5Z1 FLVCR1 PEX10 MMADHC DNM1L AMACR DLAT RTN2 CWF19L1 POLR3A FGF14 PDE6D CTSH ITPR1 DNM1 PIK3CA BCKDHB CHCHD10 GRM1 TREX1 SCN3A ATXN10 STXBP1 NDUFB8 TCTN3 GBA2 SARS1 NPHP3 PRICKLE1 MAPK8IP3 SNAI2 TACO1 COL6A2 BEAN1 UBTF ERCC5 NAT8L OTC CCDC28B NDUFA13 PDE10A TDP2 COQ8A TUBB3 FUS SLC18A2 CAV3 B4GALNT1 HLCS MSTO1 MT-CO3 PPP2R2B MFN2 MT-ND1 ATPAF2 SPG11 SLC26A4 HS6ST1 SLC6A19 COG4 IFT140 TMEM237 MT-TE GRID2 LAGE3 NAXD COL12A1 COX10 PIGG PEX7 XRCC1 DCX RFT1 ABCD1 PEX3 TCN2 ADPRS GABRA1 CACNA1A PDCD1 FIG4 ADAR NFASC UBE3A COA8 MAN2B1 PPT1 POLR3B RNF216 RAD51 TAT MARS2 TINF2 AFG3L2 SLC30A10 DAB1 MYO7A EED PEX6 HCRT FXN SMPD1 PLEKHG4 PDYN SPR SDHAF1 PTPN22 POLG2 GCH1 DGUOK TMEM240 BAZ1B MT-TS2 PAFAH1B1 CYFIP2 NDUFS4 VPS35 CAPN1 CYP7B1 BCKDHA SAMD9L ATXN3 HTT TRAF7 ASS1 PCDH15 ARX NONO EPRS1 MVK NPHP4 SLC16A2 BSCL2 MAPT VAMP1 VCP YWHAE ATAD1 SLC6A1 VWA3B RTEL1 TBK1 MECR NDUFV2 TPM3 MT-TP ROGDI TACR3 UROC1 PSEN1 PTS NDUFA6 SURF1 STAT4 TMEM106B TBCE PRPS1 PIGO SLC52A2 SNAP29 AAAS CEP164 KIF1C APC PIGL SMARCB1 DNAJC19 PGM3 DUSP6 PRNP CDC42 TMEM67 NDUFA1 SLC25A15 NDUFA11 CNTNAP2 RPGRIP1L OTUD6B HIKESHI ATXN2 CHP1 SNORD116-1 NSMF ABCA7 BBS1 COL6A3 BMPR1B POMT1 CHAT SLC20A2 ELOVL4 HIC1 SPTA1 GPI PIGW CXCR4 TBCD GALT NDUFB9 WDR73 RNU12 SUMF1 POLR1C MT-TV GABRA5 PARN ATXN1 AHI1 SMARCE1 C12orf65 WDR19 SYNJ1 RAI1 TXN2 TDP1 APOB PDE8B MAB21L1 HYLS1 RNASET2 KCND3 TGFB1 GBE1 SLC30A9 FEZF1 SETX NUBPL OXR1 SNX14 PIGY DYNC1H1 DNAJC13 TMEM231 LIMK1 LIPT1 MPLKIP PDX1 RTN4IP1 TNFSF4 EPB42 NTN1 FSHR TREM2 SUOX MYO5A ARL6 NUS1 ELN IL12A-AS1 CNKSR2 NADK2 GSS GABRB3 AARS2 PNPLA8 SLC1A2 PWAR1 SYT14 ECHS1 MED13L PNP ADGRV1 STAT3 ADA2 TH FGF8 TRNT1 PDP1 TTBK2 CP DYRK1A PCNA ZNF592 GNB5 TRAK1 XPC AIFM1 PET100 KLRC4 SLC17A5 ERCC8 NDUFAF2 SLC5A7 TGM6 TELO2 USH2A WDR26 ALG14 MT-TQ MPV17 GCLC MCOLN1 GABRA2 SCO2 NDUFB11 SLC25A22 PSEN2 FOXI1 ELOVL5 MYD88 COL13A1 SFXN4 TIMMDC1 ATCAY NDUFAF8 NDUFB10 UBAP1 ALDH5A1 ASL MTHFR DNAJC6 PEX1 ZNF365 INVS CRPPA NDN APTX FOXRED1 LRPPRC TRAPPC6B SDHC HNRNPH2 ABHD5 TBP NDUFAF4 CEP290 CISD2 CCDC141 CPLANE1 PODXL DHX30 SYNE1 PLEC HERC1 GLRX5 TMEM216 ANK1 TECPR2 PEX16 CSPP1 MT-TH NAGS PEX11B PIGV SLC19A3 TBC1D23 C9orf72 VLDLR DARS2 MYO9A PEX5 MT-RNR1 IL12A PRF1 RIPK4 RFC2 INPP5K SLC6A5 NOL3 TUBA1A GTPBP2 KCNQ2 PEX12 SGPL1 SNAP25 MYORG CEP120 GABRB2 DPAGT1 STN1 NDUFA12 RNASEH1 FRMPD4 LNPK NECAP1 PMPCA KCNMA1 SZT2 LYRM7 OPHN1 COA3 TCF20 TMEM70 AARS1 STIM1 SLC25A46 SUCLG1 SCYL1 ANO10 NELFA SYT1 EPM2A CSTB MT-CO1 TRPC3 RAB11B PRODH ACD WDR81 DPM1 PCDH19 SLC35A1 TARS1 GABRD ZBTB11 COX15 ATP8A2 FAT4 FGF17 GRN TK2 BNC1 CDKL5 MT-TW SLC52A3 PPP1R15B CIITA NDUFA2 ALG6 TRAF3IP1 P2RY11 MT-CO2 PIGS COX20 CLCN4 RNF168 AHDC1 GMPPA NGLY1 ATL1 NEUROD2 GLS DNAJC3 SNORD118 PYCR2 PMP2 MRPS22 HCN1 SYT2 NDUFA9 SPRY4 HADHB LAMB2 SLC25A4 TPRKB SYNGAP1 PGAP2 ABCB7 ACO2 SCO1 CAPN3 NDUFAF5 CTSD SPTB SLC46A1 SLC1A3 ABCA5 FGFR1 PDGFB CTNNA2 ACTL6B PGK1 ALG2 CPS1 ALG11 CSF1R TOP3A SLC39A4 HADHA ARV1 VPS13D ATP6V1A SETD2 DBT GTF2H5 WDR11 CAV1 PEX26 MYPN KCNC1 HSD17B4 KLHL41 CTDP1 WARS2 EDNRB IL17RD NTRK2 ITM2B NPAP1 CA8 GABRB1 VARS2 PAX6 WHRN GTF2E2 MT-TI CLN8 AGTPBP1 CASK RFXAP SUCLA2 NPC2 GPAA1 KIAA0556 PTRH2 PDZD7 MLXIPL KIF1B HTRA1 LETM1 CYP27A1 INS PEX13 UBAC2 AP2M1 PAK1 PMPCB YME1L1 ACTA1 NOTCH2NLC VHL COG5 TRIM8 GOSR2 REPS1 CDH23 MT-TN FOXP2 HERC2 AP3B2 TLR4 PANK2 PUM1 ZNF423 CUL4B ARSG SNCA KLLN TUBB2B GRIN2D FAM149B1 TTR SLC13A3 ATG5 GTF2I SORL1 DEGS1 NUP214 KBTBD13 DNASE1L3 GFAP PIEZO2 IL10 RORA POGZ ADGRG1 NEFH SPIDR KIF7 NHLRC1 KIAA0753 TUBB VPS13A ASAH1 POMT2 HEXB CTSF LAMA1 MKRN3 ARCN1 EBF3 MPDU1 MOG PROK2 CLCN2 SLC12A3 SET ABCA2 SPAST NDUFAF1 PPP3CA FBXL4 TRIO SIK1 STX1B TBL2 NAXE CIB2 PEX14 ERMARD RDH11 DEAF1 ESPN USF3 IFRD1 SEMA3A PYROXD1 CHD7 ZNF142 SMAD4 SLC25A42 PGAP3 RFX5 ALG13 AP1S2 LMNB2 LARGE1 HP_ANKLE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_CLONUS SAMD9L STUB1 ADGRG1 RAB18 UCHL1 ANO10 SELENOI REEP1 PSAP TIMM8A SPAST GALC ATL1 SPG11 GBA2 SPART CAPN1 KIF5A POU3F4 SLC39A14 ATP6AP2 KIF1A HTT FA2H CYP7B1 SLC52A3 ERLIN2 RTN2 ZFYVE27 PIGT HP_KNEE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_CLONUS KIF5A SLC52A3 SPG11 GBA2 SPART RTN2 HP_CONGENITAL_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MICROCEPHALY TRMT10A TRAPPC12 DISC1 MECP2 CTNNB1 TSEN54 PIGH FRMD4A PHGDH NDE1 SLC1A4 TRIO SMC3 GRIN2A NUP188 PPP1R15B TELO2 TXN2 RBBP8 CLPB PSAT1 SPATA5 TBCD VAC14 TBL1XR1 FIG4 TUBB3 EOMES HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR TWIST1 RSPH1 CTBP1 SPAG1 ELMO2 KCNAB2 RPS28 TCOF1 AFF4 REEP6 PRPF6 FGFR2 KIAA1549 AMMECR1 DNAH1 MAP3K7 NF1 PORCN SIX1 DNAAF1 CHRNG NSD1 FGFRL1 CHD7 GSC DNAH9 RDH12 SALL4 ZNF408 RSPH4A BPTF GAS8 TELO2 GJA1 CCDC65 DCHS1 COL2A1 POLR1D RAI1 TFAP2A FGFR3 SEMA3E GJB2 EYA1 SLC7A14 EDNRA NEK1 MAN2B1 AGBL5 FRAS1 KMT2D FAM20C SDHA SNRPB SKI RAD21 DHODH ARVCF BEST1 CRX HOXA2 MASP1 FANCI EXT1 IQSEC2 RBP3 CNGB1 RAB23 NECTIN1 ZNF513 SLC25A11 CREB3L1 DNAAF6 B3GLCT CPLANE1 IFT140 CCDC103 POLR1C DNAAF4 TNFRSF11A MEOX1 OFD1 ANKH GJB6 SMC1A ARL6 UFD1 LETM1 CDHR1 CTNND1 MYH3 SDHD RET CNGA1 DHDDS PSMD12 FLNB FOXJ1 NOTCH3 DLST KIZ PRPF8 POU3F4 ALX3 DNAL1 NSD2 NEK2 DEAF1 MAK BBS2 COMT POR RSPH9 SLITRK6 JMJD1C ERF TP63 EFTUD2 ACVR1 ABCA4 C8orf37 PCGF2 HIRA CERKL NRL PAX1 CPLX1 DVL1 COL1A2 PROM1 SDHB DNAI1 MDH2 IMPDH1 DNAJB13 CDH11 DNMT3A PRCD SLC25A24 FKBP14 FAT4 PRPF4 CA4 TUB TCTN3 TTC8 NR2E3 TBX1 CCBE1 CDH1 KMT2A PCARE LRRC6 RPS26 TRPS1 DNAAF5 CCNO NOG HDAC4 SPECC1L SEC24C HGSNAT ALX1 LRRC56 DLX4 GRHL3 ARHGEF18 RP1 DNAAF3 CLRN1 AHR HDAC8 PDE6D AMER1 OSTM1 MSX1 PRDM5 MCIDAS SDHAF2 VHL RECQL4 ZBTB20 GUCA1B PDE6G SRCAP DIAPH3 FGF9 CFAP221 NIPBL PRDM16 RPGR TOPORS STK36 IDH3B GMNN SCAPER COL11A2 ARL2BP FLNA TXNL4A TSR2 RREB1 NME8 PDE6B SDHC FH LONP1 BMP2 CFAP298 CNOT1 CFAP300 PRPF3 SMC3 SPATA7 SPEF2 ZNF469 RERE ZMYND10 TSHZ1 FREM2 CCDC39 ARMC4 PRRX1 APC2 DNAI2 NEK10 EPAS1 PTPN22 AHI1 EDN1 SAG FGF10 GP1BB SOST DLG1 ARHGAP29 EYS FAM149B1 LRP5 GATA1 SC5D RGR GAS2L2 CCDC151 DHX38 IDH3A GDF5 GNPTAB RHO PIGL RP9 TMEM67 SF3B4 KLHL7 KIF7 STAC3 RPS23 KIAA0753 RLBP1 TBX22 DNAH5 NFIX ADAMTS3 CDCA7 TTC12 ANKRD11 GRIP1 PGM3 TMEM127 USH2A FLII RP2 SETD5 IFT172 CCDC40 FAM161A RPE65 PRPH2 ROM1 AIFM1 IRF6 TMEM216 UBB TTC25 DNAAF2 SEMA4A ARL3 GDF6 BMP4 NOTCH2 LRAT MAX GABRD DRC1 TULP1 SNRNP200 IFT88 KIF1B SGMS2 RSPH3 FSCN2 OTOF MERTK HYDIN FBN1 IMPG2 POMGNT1 CCDC114 PRPF31 KDM6A SETD2 PDE6A CRB1 ARID2 DNAH11 HP_ESOPHAGEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_CARCINOMA APC TGFBR2 RHBDF2 ASCC1 STAT1 WWOX MSR1 RNF6 CTHRC1 DLEC1 HP_YOUNG_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YOUNG_ADULT_ONSET SPRY2 TNNI3 VSX1 ATP1A3 COCH HJV FBXO7 ACTG1 HP_CHILDHOOD_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET PMP22 XPC MARCHF6 TTN CHRNA4 LACC1 CUBN PLEKHG5 SPART NLGN4X OCRL TACSTD2 COL9A1 GCH1 MECP2 SCN1A SNRPN SMPX GUCY2D NLGN3 F13A1 MYH7 DMD GDAP1 EMD GABRG2 PNKD DYNC1H1 SYNE1 ALAS2 HABP2 PLCE1 LIMS2 TMPRSS3 CLCN1 ADGRV1 F2 TPM2 ALS2 CRB1 WT1 AAAS SPG11 MTHFR FRG1 FLVCR1 UFSP2 SYNE2 CFB PLA2G6 DIAPH1 PRNP COL9A2 PRPS1 FECH RPS29 TIMM8A SH3BP2 HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER SPECC1L SON RFX6 FOXF1 GPC1 GATA6 INTU HP_ABSENT_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_GALLBLADDER SPECC1L SON RFX6 FOXF1 INTU HP_NASAL_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_REGURGITATION MYO9A SLC5A7 GRHL3 UBB SYT2 VAMP1 COL13A1 TOP3A SLC18A3 AGRN SLC25A1 SNAP25 TUBB6 CHAT HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY CTCF MT-TE NALCN PIGT GPT2 TRMU UNC80 PSAP PDE10A GALC DMPK CLTCL1 BRAF PUF60 HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY PIGY TRAPPC12 PIGO PNPT1 PDSS2 PRPS1 YY1 DCHS1 ASPA SLC1A4 PPP2R1A KLHL40 AFF4 PIGL C12orf65 FAT4 TBCK TRIO DEGS1 C2CD3 ADNP COQ2 PIGW WDR26 PGAP3 UGDH UBTF GNPTAB SON PSAT1 SPATA5 ITCH PGAP2 COG5 TRIP4 PIGV SETBP1 HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY TTC37 STX3 RFXANK SKIV2L RFXAP ADAM17 FOXP3 WNT2B IL2RA EPCAM DGAT1 RFX5 STAT1 CIITA MYO5B MPI SPINK5 PCSK1 ALG3 HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT SARDH IARS2 IGF1 HGF TIMM8A RIPOR2 TK2 MARVELD2 GIPC3 NDE1 CDH23 ADCY1 SETBP1 ATP2B2 COCH HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT FGF3 TBC1D24 KCNQ1 KCNE1 MYO15A RDX CIB2 HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY KAT6A TFAP2A FGFR3 TP63 SIX1 TET3 YY1 TAF1 IGSF3 PAX1 NHP2 NDUFB11 TCOF1 FRAS1 FREM2 SMC3 CD151 EP300 SIX5 FGFR2 PAX3 PTDSS1 FREM1 EYA1 CREBBP GRIP1 FGF10 COL11A2 COL3A1 NOP10 HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY BTNL2 FGFR3 FGFR2 SLC25A24 FGF10 SOX10 HLA-DRB1 HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY GRHL2 ZEB1 VSX1 CYP1B1 OVOL2 PAX6 FOXC1 PITX2 COL8A2 SLC4A11 FOXE3 HP_ABNORMALITY_OF_CORNEAL_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_STROMA LIFR JAG1 SMARCAL1 SLC4A4 CHRDL1 NAGA NLRP3 ERCC6 SC5D B4GAT1 XPA KRAS ERCC3 CHST6 LCAT ERCC5 CTNS OVOL2 ESCO2 APOE STS ABCA1 AIRE SLC29A3 ZEB1 NOD2 GJB2 GRHL2 PEX5 PAX6 TRPV3 XPC ERCC8 KRT12 GNPTAB WT1 CTSA KERA ALDH18A1 COL8A2 IDUA MMP2 GNPTG GALNS SLC4A11 PEX2 FOXC1 COL18A1 DDB2 OCLN GLB1 POMGNT1 NDP FOXE3 NTRK1 PITX2 TGFBI ERCC2 LDLR RIPK4 APOA2 CYP1B1 ARSB PPP1R17 RAB23 VSX1 PITX3 UBIAD1 APOB TRAPPC2 GBA GHR MBTPS2 ERCC4 MCOLN1 PEX1 GNAS POLA1 WDR73 ASAH1 EPHX2 HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA PITX2 COL18A1 JAG1 GNAS NOD2 SLC4A4 OVOL2 PAX6 CYP1B1 FOXC1 FOXE3 HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY ALOXE3 XPC IL12A PRDM5 MPLKIP COL4A4 LBR ELP1 NLRP3 PRDM12 WIPF1 KIFBP TWIST2 XPA ERCC3 TGFBI ALOX12B MEFV CHST6 SPINT2 ERCC5 IL12A-AS1 LMNA FGFR2 NLRP1 IL10 COL4A3 PNPLA1 GTF2H5 WAS AIRE STAT4 DDB2 IL23R GJB2 HLCS ERAP1 UROS CCR1 BTD AEBP1 KLRC4 RNF125 BTNL2 FOXC2 HLA-B ERCC2 MPV17 CRLF1 COL7A1 FERMT1 NOD2 ABCA12 CLTCL1 GTF2E2 RNF113A GSN FGFR3 PLEC TARS1 ZNF469 B2M IKBKG CERS3 ERCC6 C4A NTRK1 IKZF1 UBAC2 COL17A1 MBTPS2 ZEB1 IL6ST SCN9A KRT3 POLH SLC39A4 ALDH3A2 PLCG2 PAX6 TGM1 NIPAL4 FOXE3 HLA-DRB1 NGLY1 GJB6 CTNS TAT IARS2 MMP1 ZMPSTE24 ERCC4 COL4A5 MAB21L1 FGF10 TLR4 GATA1 FAS TP63 HP_CORNEAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_NEOVASCULARIZATION JMJD1C COL4A1 FOXE3 NLRP1 CYP1B1 ERCC2 GP1BB ARVCF GJB6 SEC24C GJB2 TBX1 UFD1 COMT HIRA NGLY1 RREB1 HP_MYDRIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYDRIASIS ACTA2 GNA11 CYSLTR2 BAP1 PEX10 GNAQ SF3B1 LOXL1 HP_BULL_S_EYE_MACULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULL_S_EYE_MACULOPATHY MFSD8 RIMS1 TMCO1 ABCA4 RAX2 VPS13B HP_CYSTOID_MACULAR_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTOID_MACULAR_EDEMA ARL3 POMGNT1 PRPH2 NOD2 MFRP DHDDS RLBP1 REEP6 HLA-A RHO RDH5 RP1L1 PRPF8 PDE6G ARHGEF18 HP_CHOROIDAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDAL_NEOVASCULARIZATION ABCC6 FBLN1 AGXT FBN2 HMCN1 PRPH2 CFHR1 MAPKAPK3 HLA-A CFHR3 XYLT2 XYLT1 FBLN5 CFI APOE HP_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRUSEN ABCC6 HMCN1 CFHR1 CTNNA1 MFRP IFT172 IMPG1 CFHR3 TMEM98 XYLT2 PRPH2 XYLT1 GUCY2D FBLN5 CFI APOE CFH GUCA1A HP_HYPERPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_FUNDUS APC POU3F4 CAPN5 EFEMP1 MUTYH HP_ACHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHROMATOPSIA CNGA3 NBAS ATF6 GNAT2 CNGB3 HP_ANOMALOUS_TRICHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMALOUS_TRICHROMACY OPA3 OPN1LW OPA1 OPN1SW DNM1L NR2E3 OPN1MW HP_ABNORMALITY_OF_LENS_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LENS_SHAPE RDH5 OCRL COL4A3 LAMB2 PRPH2 COL4A5 RLBP1 COL4A4 RHO HP_VITRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITRITIS COX7B NDUFB11 RB1 HCCS HLA-A HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS FANCE GDF1 LIMK1 PHGDH GJA5 NOTCH2 GATA5 KCNAB2 ARHGAP31 FANCL PEX19 ARID1B DDX59 RBM8A RFWD3 ELN TBX1 FOXH1 BRIP1 DDX11 PIGL GATA6 CDON RNU4ATAC ZIC3 SALL1 CHD4 PRDM16 MYRF TTC37 MMP14 NKX2-5 CHD7 COX7B SALL4 RREB1 DGCR8 HIBCH SEMA3E FANCF ROR2 BMP2 PAH WASHC5 MKKS GATA4 FIG4 CACNA1C ZIC2 SLC35A2 PTCH1 NXN NID1 ESS2 FANCG RERE DOCK6 SLX4 SIX3 GAS1 FLT4 MEGF8 FANCI MCTP2 BCOR FANCB TRAF7 PIGN FANCD2 ARVCF DLL4 MMP21 FANCA DISP1 FOXC2 DGCR6 TGIF1 JAG1 UBE2A MED13L SKI SPECC1L PTPN22 RAI1 RAB23 FOXF1 RBPJ BAZ1B XRCC2 ZFPM2 TBX2 FGF8 UBE2T GP1BB CFC1 LMNA GTF2IRD1 UFD1 TDGF1 NKX2-6 RAD51 RBM10 DACT1 FANCM RFC2 ERCC4 GPC4 CDK8 GTF2I MMP2 CLIP2 ALX3 COMT SHH LRRC56 FKTN SKIV2L BRAF SF3B4 JMJD1C RPL5 EHMT1 TMEM260 NOTCH1 HIRA RAD51C PQBP1 BRCA2 TMEM94 NR2F2 GLI2 CITED2 TBC1D24 BRCA1 CHRM3 CCDC22 TAB2 MAD2L2 ZMPSTE24 FANCC EOGT TBL2 NODAL GJA8 DGCR2 CXCR4 WT1 STRA6 GABRD VAC14 CCNQ PKD1L1 INTU SEC24C FN1 COL2A1 SUFU ALX1 GJA1 DLL1 RPL11 PALB2 GPC3 CFAP53 FGFR1 PUF60 CRELD1 HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION MMP21 NKX2-5 MCTP2 NOTCH1 ZIC3 GJA1 CCNQ HP_COMMON_ATRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMON_ATRIUM GATA6 MMP21 GATA4 GDF1 ZIC3 EVC EVC2 NR2F2 CRELD1 HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH DNAH1 DGCR8 EP300 TBX1 ESS2 ACVR2B PIK3R2 WDR26 CREBBP DGCR2 GDF1 STRA6 TMEM260 MMP21 DGCR6 CRELD1 FLT4 HP_DOUBLE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOUBLE_AORTIC_ARCH DGCR8 ESS2 DGCR6 TBX1 DGCR2 FLT4 HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES SNX14 POLR1A FGFR3 LIMK1 GJA5 AMMECR1 KCNAB2 ARHGAP31 FBN2 FANCL AFF4 ARID1B TSFM DDX59 ELN FOXH1 BRIP1 DDX11 KRAS GATA6 MYRF TTC37 NSD1 MMP14 CHD7 COX7B TBX1 SALL4 BPTF NCAPG2 DGCR8 ROR2 POLR1D MYH11 IGF2 GATA4 CACNA1C HIBCH SLC35A2 PTCH1 MRPS16 SEMA3E VPS33A CEP120 ESS2 KCNH1 DOCK6 SLX4 CALM3 CTCF SIX3 GAS1 BCOR C2CD3 PLAGL1 PRDM6 SOX2 MEGF8 MCTP2 NFIX COQ4 AGGF1 PIGN ARVCF DLL4 FANCA FOXC2 RERE DGCR6 TGIF1 MAPK1 MASP1 CTU2 SKI RAI1 RAB23 FOXF1 RBPJ XRCC2 B3GLCT NKX2-5 EXT2 KAT6A HYMAI ZFPM2 TBX2 FGF8 UBE2T LMNA PEX1 ACTA2 GTF2IRD1 UFD1 ARX FANCB TDGF1 RBM10 PORCN COL18A1 FANCM RFC2 ERCC4 PSMD12 ADAMTS10 GPC4 WDPCP ZMPSTE24 SMAD3 FOXC1 DHCR24 EP300 MMP2 CLIP2 ALX3 COMT LRRC56 FKTN MYCN SKIV2L JMJD1C RPL5 PCGF2 NOTCH1 MED13L HIRA BCR BRCA2 TGFBR2 STXBP1 FBN1 TGFBR1 RAC1 CREBBP TMEM94 POLR1C NR2F2 TRRAP CITED2 BRCA1 CHRM3 WDR35 DPM1 ZEB2 EHMT1 PTPN11 GATA5 MKS1 TAB2 MAD2L2 SIX6 SLC25A24 FKBP14 LARS2 PACS1 NODAL GJA8 TALDO1 DGCR2 STRA6 MYLK ERMARD RPS26 PIGT ASCC1 PKD1L1 JAG1 TFAP2B UMPS USP9X INTU SPECC1L SEC24C CCDC22 FN1 COL2A1 ALX1 FLT4 GJA1 FTO DLL1 GDF1 ALG8 SON PALB2 GPC3 THOC6 CRELD1 ABCC9 FANCE SHANK3 DHCR7 TRIP4 PHGDH ACSL4 NOTCH2 G6PC3 KAT6B PEX19 DTNA PPP1CB RBM8A RFWD3 PIGL CDON TBX5 RNU4ATAC AMER1 SAMD9 PTEN ZIC3 GLI3 SALL1 CHD4 PRDM16 RREB1 ZNF148 ECE1 ARFGEF2 FANCF YY1AP1 BMP2 NPHP3 PAH TGFB2 WASHC5 MKKS EOGT RSPRY1 TMCO1 ALG12 FIG4 ACTB USP18 ZIC2 NXN NID1 FANCG FLNA SMAD4 TMTC3 ANK1 PRKG1 TRIP11 EED FANCI TRAF7 APC2 FANCD2 MMP21 DISP1 MYH7 UBE2A SSR4 DVL3 PTPN22 BAZ1B DYNC2LI1 NEK8 TBX4 TP63 GP1BB CFC1 NEDD4L NONO NKX2-6 MAF RAD51 DACT1 HPGD RIT1 PCNT ADAT3 CDK8 GTF2I LMX1B MAP2K1 ANKS6 MFAP5 SMC3 KYNU KCNE5 RBP4 ESCO2 IGBP1 LOX CRKL SHH BRAF SF3B4 BMPR1A TGFB3 CDC42 TCOF1 DNMT3A TMEM260 RAD51C PQBP1 PUF60 KCNJ8 GLI2 TBC1D24 CD96 MAP3K7 TKT FANCC ARL6IP6 TBL2 SIK3 ARF1 CXCR4 WT1 GABRD VAC14 NOTCH3 SUFU MAT2A RPL11 SNRPB SETD2 FOXE3 MAP1B CFAP53 FGFR1 HP_INTERRUPTED_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERRUPTED_AORTIC_ARCH DGCR8 DIS3L2 SEMA3E TBX1 ESS2 CHD7 DGCR2 KRAS SMG9 FGFR1 GATA6 TMEM260 MMP21 DGCR6 HP_ABNORMALITY_OF_ABDOMINAL_SITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ABDOMINAL_SITUS NODAL LETM1 PKD1L1 NSD2 CFAP53 GDF1 ZIC3 ACTG2 CFC1 NELFA HP_TRICUSPID_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_ATRESIA SEC24C TBX1 TMEM260 JMJD1C PLD1 UFD1 COMT HIRA GP1BB RREB1 ARVCF HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY PKP2 TGFB3 RYR2 JUP TMEM43 DES DSP DSG2 DSC2 HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT CALM3 GATA6 NUP188 BMP2 THOC6 ATRX RAD21 PUF60 CITED2 HP_CEREBELLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HEMORRHAGE PCCB PCCA MMUT ACAD9 APP IVD HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN MDH2 KCNE2 HCN4 SLMAP TRPM4 SDHD DNMT3A RET SCN10A RANGRF CACNA1C KCNE3 LMNA DLST SDHB SDHAF2 CAV3 VHL ABCC9 KCNJ5 SCN5A NF1 SDHA SCN1B BVES SCN3B AKAP9 KCNE5 MAX SCN4B CACNB2 KIF1B SNTA1 PEX5 EPAS1 KCND3 SCN2B KCNH2 SCNN1A TPM2 BANF1 SLC25A11 MYPN SEMA3A GPD1L GNB5 KCNQ1 ANK2 TPM3 TNNI3K SDHC FH ZMPSTE24 PRKAG2 KCNE1 CALM2 NOS1AP PKP2 SGO1 TRDN CALM1 CACNA2D1 TMEM127 KCNJ8 HP_SINUS_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_TACHYCARDIA EPAS1 MDH2 RET SDHD DNMT3A TPM2 BANF1 SLC25A11 MYPN DLST SDHB SDHAF2 VHL TPM3 NF1 SDHA SDHC FH ZMPSTE24 MAX LMNA KIF1B TMEM127 PEX5 HP_SICK_SINUS_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SICK_SINUS_SYNDROME HCN4 KCND3 SLMAP SCN2B SCNN1A TRPM4 RANGRF CACNA1C KCNE3 SEMA3A GPD1L GNB5 ABCC9 SCN5A SCN1B PKP2 SGO1 SCN10A SCN3B AKAP9 KCNE5 CACNB2 CACNA2D1 KCNJ8 HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK KCND3 SLMAP SCN2B GJA1 SCNN1A TBX5 TRPM4 DMPK RANGRF CACNA1C KCNE3 SEMA3A GPD1L ABCC9 SCN5A SCN1B HCN4 PKP2 SCN10A SCN3B AKAP9 KCNE5 CACNB2 CACNA2D1 KCNJ8 GJA5 HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK CALM3 CACNA1D KCNJ18 CACNA1S GABRA3 HP_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUNDLE_BRANCH_BLOCK SLMAP TRPM4 MT-CYB DYSF RANGRF CACNA1C SCN5A KCNE3 RAF1 GPC4 PPP1CB SCN1B ABCC9 NKX2-5 ATP6V1A GPD1L GPC3 ATP6V1E1 RNASEH1 BRAF HCN4 SCN10A SCN3B AKAP9 KCNE5 PTPN11 CACNB2 CTNNA3 MYH7 GYG1 KCND3 SCN2B SCNN1A BANF1 GLA SEMA3A POMT2 TNNC1 GNAI2 JUP PLEC TNNI3K PRKAG2 PKP2 CACNA2D1 KCNJ8 MYOZ2 MYBPC3 HP_LEFT_ANTERIOR_FASCICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK TRPM4 TNNI3K TNNC1 MYH7 SCN5A HP_RIGHT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_BUNDLE_BRANCH_BLOCK KCND3 SLMAP SCN2B SCNN1A SCN5A TRPM4 HCN4 MT-CYB DYSF BANF1 RANGRF CACNA1C KCNE3 SEMA3A POMT2 GPD1L PPP1CB TNNC1 GNAI2 JUP ABCC9 ATP6V1A PLEC ATP6V1E1 TNNI3K RNASEH1 SCN1B PKP2 SCN10A SCN3B AKAP9 KCNE5 CACNB2 CACNA2D1 GYG1 KCNJ8 MYH7 MYBPC3 HP_LEFT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_BUNDLE_BRANCH_BLOCK TRPM4 TNNI3K PRKAG2 SCN5A TNNC1 MYOZ2 MYH7 MYBPC3 HP_ABNORMALITY_OF_THE_PULMONARY_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS RIPPLY2 RSPO2 TBX5 GATA4 CDC42 BMPR2 TMEM260 B3GLCT CITED2 DHCR24 CRTAP HES7 FOXF1 LFNG GDF1 MESP2 NR2F2 WT1 GATA6 MMP21 DLL3 RPS15A EIF2AK4 CRELD1 MYRF HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART PKD1L1 MMP14 DVL3 SEMA3E NKX2-6 PTPN22 RAI1 CHD7 TBX1 GATA4 GATA6 NKX2-5 GATA5 PEX19 TBX2 MCTP2 BCOR PAH TRAF7 TMEM94 GDF1 WASHC5 CFC1 NR2F2 MMP2 TBC1D24 NOTCH1 LRRC56 ZIC3 UBE2A CRELD1 HP_ABNORMALITY_OF_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_JOINT_MOBILITY TWIST1 VPS11 CTBP1 FKRP KCNAB2 RAB3GAP1 PTH1R HEPHL1 LGI4 EPCAM ADCY6 UPF3B KCNJ11 ERGIC1 COL2A1 DYNC2LI1 SPRY4 STAT3 TACR3 CHMP1A NSD1 FGFR3 FGF17 SF3B4 COL11A2 BGN CCR6 GFPT1 PTCH1 NEB NUP133 SEC23A MYH8 PCYT1A GAN DLG4 NT5C2 MMP13 ROR2 BSCL2 PIEZO2 BCOR IFT43 ESCO2 MRAS GLB1 GNRHR SELENON CHRNG KMT2D WDR11 TREX1 HGSNAT DHODH DDX3X ANTXR2 H1-4 KDM6B TBR1 FANCI IGHMBP2 PEX7 BRF1 RAI1 RFC1 RAB18 PHGDH WDR45B MYH3 EVC2 TBC1D20 ITCH ABCC8 FBXL3 MYO9A GDF5 MMP1 COL5A2 SALL4 LTBP4 UFD1 LETM1 COL6A3 TGM1 PIP5K1C LPIN2 IRF5 SGCA FKBP10 SLC9A6 PPP2R5D FGFR2 ATP7B EP300 LFNG ALX3 ALG13 EXTL3 DEAF1 SIN3A CUL7 CHRNB1 FKTN KLC2 ACTG2 DOK7 ZFP57 C19orf12 BMPR1B SMAD4 NPR2 ERCC3 TSEN54 DCHS1 PEX5 L1CAM ATP6V0A2 ERLIN2 NANS ADAR BCR MRPS34 RBM28 IFIH1 MSH6 CREBBP OTUD6B HPGD DNAJC21 SLC25A1 DUSP6 ACADM TPM3 MYH2 EZH2 DNAJB6 NALCN TNFRSF11B VPS53 NOG ADAMTS10 PEX2 FZD2 TNNT3 ZMPSTE24 DCC MED12 ERCC4 PPP2R1A CHAMP1 SPART HINT1 APC VPS13B RAF1 SMARCE1 SLC18A3 CHSY1 KIAA1109 MEOX1 CAV1 XYLT2 RYR1 USP7 HUWE1 ERMARD PIGN RPL10 LEMD3 ABL1 RIT1 NIPA1 TRAIP TNNI2 CDC45 XYLT1 ACTA1 FAT4 ERCC5 TAPT1 FLVCR1 TPM2 KISS1R ASAH1 CCN6 GMPPB ERLIN1 COL13A1 NSDHL PRDM5 MYO18B RTTN STRADA PMS2 A2ML1 SMARCD1 COL6A2 HES7 TGFB3 NUP188 RPS6KA3 GUSB PLOD2 ZNF335 AMER1 TUBB3 MYOT PRDM16 PTPN22 PLA2G6 PLOD1 CD247 DYM BHLHA9 CANT1 COLEC11 UROS ALOX12B RREB1 AP4M1 HOXA13 HOXA11 RFT1 TNPO3 GTF2H5 VMA21 TMCO1 VAMP1 GLI3 TRIM2 HGD PIGP TRMT10A CACNA1A POMK TONSL NXN TBX5 GALNS LOX DONSON MYL1 FBLN5 NAGLU TMTC3 PPT1 RAD51 ADGRG6 SMARCB1 CLCF1 PPP2R3C TAB2 COL12A1 VPS37A ASPN POR CNTNAP1 TMEM165 MBTPS2 FCSK PRG4 GNPAT LIFR ANKRD55 FLNA LAMC2 SEMA4A NAA10 CCBE1 GJB1 SHH ATP7A F8 ZDHHC9 TBX4 GP1BB REV3L NEDD4L PIK3CA ERCC1 TNXB SLC26A2 SLC16A2 TET3 ATN1 SLC6A8 NLRP1 ANO5 PCNT LAMA3 PSMB9 COL3A1 ADAT3 LIG4 IDUA GBA ERCC6 WDR19 ALG3 BMPR1A VCP SMC3 HRAS ERF PIK3R2 HOXD13 BCL11A BRAT1 BRAF CRKL CACNA1E EXOC6B FMR1 AP4S1 CDK13 COLEC10 GJB2 CBS TBX22 KY CENPJ ADAMTS3 ADAMTSL4 CDC42 PITX1 TBX1 TBL1XR1 LMNA MLH1 DPH1 SETD5 COL11A1 HIKESHI MYL2 LZTR1 POGZ WNT5A TFAP2B SERPINF1 SGCG IDH2 KDM5C FLRT1 FBN1 DHCR24 SLC35A3 RNASEH2A PERP TGFBR1 GNRH1 SLC25A19 RRAS IARS2 ANKRD11 CUL4B ANKLE2 HSPG2 EXOSC8 GBE1 CCN2 ANTXR1 KDM6A B4GALT7 KLHL41 CLIC2 ACAN OSGEP SNX14 SMS LIMK1 CFL2 MYBPC1 NTN1 AFF4 AMMECR1 KLHL9 SLC6A9 ELN FLNB COL1A2 DPM2 ATR SYNE2 FGFRL1 FUT8 BICD2 IFT122 CHST3 ORC6 WDR4 DNM2 FGFR1 CHRNA1 KANSL1 ERCC8 AP4E1 TBX15 SLC5A7 FHL1 SHOC2 PSTPIP1 COL17A1 ALG14 NLRP3 KMT2A SYNE1 SRCAP TBCD MYMK ZC4H2 UFC1 PLAGL1 MATN3 SOX2 SKI SLC40A1 NOD2 COL6A1 C1R TRPV4 CRPPA MAPK1 GCK MASP1 LAMA2 EXT1 INPPL1 HNRNPH2 DST FIBP UBR1 FOS HFE ALOXE3 PLEC BMP1 TOR1AIP1 LMX1B HNRNPDL ZBTB42 ADAMTS2 SOS2 NUP88 DARS2 SLC6A5 GTPBP2 TWIST2 ZNHIT3 RAB3GAP2 NSD2 TMEM43 ITGA6 SCN4A C1S GMNN IRF6 FUCA1 ARX PDGFRB STIM1 SLC25A46 ENPP1 ACVR1 TRPV3 AP4B1 CNTN1 CEP55 STXBP1 SYT1 SLC39A14 NSUN2 PAX2 DDR2 PIK3R1 PYCR1 IL2RB WDR35 DPM1 ZNF469 SMARCAD1 TARS1 FLVCR2 SON COL5A1 PLP1 ATP6V1E1 PIK3C2A RNASEH2C EFNB1 TTN EFEMP2 PSMB4 ABCC6 LTBP2 ITGB4 USP9X ANKH HDAC4 COL1A1 CCDC22 IARS1 CYP26B1 FGF8 PYCR2 COL7A1 SATB2 MTM1 TRIP4 KLHL7 KAT6B RBM8A LSS SPRTN GDF6 FGF9 FBLN1 SLC29A3 LMOD3 AUTS2 FKBP14 ABCC9 SCARF2 PROK2 ECE1 SHOX PEX6 TBX3 PTHLH MESP2 SFRP4 PPP3CA FUZ HDAC8 NIPBL TBX6 YY1 ASXL1 FGF16 PTRH2 SLC2A10 COQ7 CDKL5 ALDH18A1 INS GABBR2 PIGA AIFM1 TPRKB SLC39A13 MORC2 NRAS BIN1 GAD1 PTDSS1 ABCA12 CBL HACD1 POMT2 ADAMTSL2 MECOM RIC1 FAN1 NDUFAF4 DPF2 SAMHD1 CENPE VPS33A LOXL3 NOTCH2 AIMP1 DYSF GNE SMOC1 PLXND1 EMD LRP4 OCRL TAC3 PPP1R15B PAX3 PIGT KCNN3 RASA2 PDE4D ATAD1 FBN2 PTF1A IBA57 DNMT3A MYPN NOTCH3 ACER3 PQBP1 GRIA4 VIPAS39 ORC4 CRLF1 WDR73 ZIC1 MPDU1 SDHA PDX1 DPYD TP53RK PTPN11 KRAS CTDP1 SET KLHL40 WNT7A TGDS ARF1 FERMT1 PRRT2 GLRA1 MT-TE NDE1 CDT1 PYROXD1 PSAT1 GLE1 EVC MAMLD1 MAP1B RPL26 EED TRIP11 HBA2 NEK9 POMT1 SGSH ARID1B PTEN COMP LMBR1 GPC3 KISS1 RRAS2 ATRX SLC1A2 MED25 TCF12 TRAK1 KCNH1 OPA3 GSC BANF1 DNAL4 MLH3 MSH2 NCAPG2 MEGF10 TNNT1 COLQ GJA1 SDHB PI4KA RNF113A KRT83 SETBP1 SLC35A2 TFAP2A CHST14 CHRND GATAD2B UCHL1 CRYAB NUP107 MAP3K7 PTCH2 WRN C12orf4 SUFU AGA SEPSECS RAD21 GNAS CAPN3 EXOSC9 SLC39A8 PSMB8 VRK1 KDM1A DMD DSE ARSB RAB23 TAF1 TENT5A OFD1 NTNG1 ABHD12 HYMAI LRP5 SUZ12 ERCC2 AGPAT2 PMM2 GTF2IRD1 SDHD LIAS GPKOW MRE11 PIGY COL18A1 AGRN RNF13 SUMF1 PHF6 CLIP2 COMT SIL1 HLA-DRB1 PLAA MAFB SOX5 HIRA TGFBR2 DKK1 AKT1 CPLX1 WFS1 PMS1 RAC1 TMEM107 SOS1 GNAI3 RMRP TRPS1 CHD7 KCNK9 SIX6 FGD1 PLK4 SH3PXD2B GLRB RIN2 ELOVL4 RPS20 IHH DNA2 ARID2 CAVIN1 ALX1 NSMF ALG8 ERBB3 ITGB6 SMAD3 POLR3A HSPD1 THOC6 OTX2 P4HB CCDC8 RNU4ATAC GPC6 GLUL CEP152 SLC1A4 RECQL4 NGLY1 PPP1CB COASY SLCO2A1 B3GALT6 B3GLCT SALL1 PUF60 WASF1 MFN2 DDRGK1 ARFGEF2 NACC1 MKKS RSPRY1 DCPS MACROH2A1 FIG4 NKAP SLC12A6 SEMA5A TCTN3 COG1 NFASC P3H1 MECP2 KCNJ2 ANOS1 MYH7 LARGE1 SDHAF1 IKBKG GCH1 BAZ1B COL9A1 UBA1 GDAP1 TLK2 NONO ACTG1 TYROBP TREM2 COL9A3 KRT1 SRD5A3 MUSK KIF15 GNPTAB ATRIP SPEG ZBTB20 PIGL ECEL1 SMC1A NFIX SPG11 CTNND2 SEC24D ALG1 NKX3-2 DLL3 POP1 ALG9 COL9A2 FLII C12orf57 MYOD1 CHAT SERPINH1 ATP6V1A CTCF RBBP8 PHIP IL6ST GABRD RET DPAGT1 SNRPB ALS2 PIGG TGFB1 LAGE3 BAG3 PHACTR1 CCDC47 MPLKIP GPHN PLEKHG5 LTBP3 MED13L PORCN ATP6V1B2 KIF14 CTNNB1 PNPT1 PCNA SOX11 AEBP1 KIF1A TELO2 WDR26 DAG1 MMP2 IL2RA MAN2B1 GPC4 TMEM70 FAM20C MEGF8 KIAA0319L UNC80 MCTP2 EMG1 ARVCF GFM2 CKAP2L PRUNE1 KIF5A HBA1 IQSEC2 VPS33B CREB3L1 CISD2 DHX30 RNASEH2B TRAPPC2 IL1RAPL1 HERC1 MAF HS6ST1 PPARG SPTBN4 STAG1 RFC2 C12orf65 SNAP25 IDH1 FOXP1 PROKR2 DVL1 PNKD ORAI1 GORAB DDHD2 CHRNE JMJD1C VANGL1 GRIA3 DVL3 IDS KIF22 ALG2 EPG5 BMPER SOX4 GNPTG B3GAT3 ASPA ARID1A CSNK2A1 CPT2 CDC6 KCNJ6 ALDH3A2 ASCC1 PIGS AHDC1 SEC24C IFITM5 MAGEL2 BMP4 GDF3 SYT2 LAMB2 MTMR14 RIPPLY2 SHANK3 SMARCC2 CDH3 TGFB2 SMG9 WIPI2 SLC10A7 HNF4A GNS PLCB4 ADNP HNF1B LONP1 CDK5 P4HTM RIPK4 GTF2E2 ZNF341 AIMP2 FARSB RERE MLXIPL KIF5C WNT1 ORC1 EXT2 LAMB3 OBSL1 CHN1 EXOSC3 UBE3A SMARCA4 ITGA7 TP63 SHPK PLOD3 RAPSN MSTO1 MMP9 NEFL GATA1 ACADS GTF2I MVK DEGS1 IFT52 SOBP KBTBD13 COG5 STAC3 SOX10 PTPN2 GLI1 BRPF1 SCYL2 CYP27A1 STAT4 STING1 TBL2 SIK3 POLD1 AHSG OPA1 IL1RN GRID2 MAN1B1 MAP3K20 ACTB AP1S2 CD96 PEX1 HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION ATP6AP2 SMARCB1 BAP1 SUFU PDGFB PIK3CA TERT AKT1 SMO SMARCE1 NF2 TRAF7 HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY CHEK2 SDHD RET STAR DLST APC SDHB SDHAF2 VHL GNAS ZMPSTE24 NF1 GPR161 PTEN MEN1 HYLS1 TBX19 SIX3 CYP11B1 POLE IDH2 AIRE TBC1D7 GLI3 CDKN1B CACNA1S PRKACA HSD3B2 TP53 PDE8B ARMC5 CYP11B2 NSDHL CDH23 SDHC FH CDKN2A WASHC5 NR0B1 PRKAR1A CYP17A1 HESX1 TMEM127 TBC1D24 MDH2 SCN4A CCDC22 DNMT3A IDH1 PROKR2 WNT3 MKS1 POR PDE11A CYP11A1 KCNE3 KCNQ1OT1 CDKN1C NR3C1 SDHA LIPA MAX KIF1B POMC EPAS1 CILK1 KCNJ5 WDR11 SLC25A11 LMNA TNXB KCNQ1 WNT4 LHX4 GK BMP4 MDM2 IGF2 CACNA1D CDON CDKN1A PEX1 CDKN2B ROBO1 CDKN2C USP8 CYP21A2 HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY CYP11B2 STAR PEX14 PROP1 BAP1 PEX19 KCNJ1 PEX11B INSR TERT SMO SGPL1 HBB PEX16 STEAP3 SCNN1A MAP3K1 MC2R TBX19 ZFPM2 CTNNB1 PEX5 CLCNKB SNRPN WWOX PWAR1 CYP11B1 CLCNKA SCNN1G SAMD9 VAMP7 PEX6 AIRE GLI3 CDKN1B SCNN1B PRKACA HSD3B2 PDE8B WNK4 SAA1 TBCK PEX1 GNAS PIK3CA DHX37 BRAF AAAS PEX13 NNT RBM28 PEX10 SMARCB1 PEX26 LHX4 SOX9 NPAP1 MKRN3 AKT1 NR0B1 PRKAR1A ABCD1 CYP17A1 CYP11A1 WT1 WNK1 PCSK1 MEN1 POMC NR3C2 MRAP MCM4 POR SNORD116-1 PEX12 NR5A1 RET KCNJ11 SRY KLHL3 NR3C1 TCTN3 BCOR ABCC8 PEX3 LIPA SLC12A1 NFKB2 DMRT3 PWRN1 NDN HSD11B2 CDH23 AIP SLC26A3 PEX2 KCNJ5 PDE11A TXNRD2 PDGFB GMPPA KCNJ10 SMARCE1 GK IARS2 TRAF7 GATA4 CACNA1D OCRL HTR1A TP53 HERC2 SUFU CDKN1A HSD17B4 MAGEL2 MRPS7 CDKN2B BSND SLC12A3 CDKN2C TRAPPC11 NF2 SNORD115-1 CUL3 HP_CENTRAL_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_ADRENAL_INSUFFICIENCY CDH23 AIP TBX19 TBCK CTNNB1 BRAF NFKB2 RBM28 AAAS PCSK1 MEN1 IARS2 POMC GLI3 HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY CDH23 AIP RBM28 NFKB2 TBX19 MEN1 HP_PRIMARY_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERALDOSTERONISM SCNN1A SLC12A3 SCNN1G CYP11B2 SCNN1B KCNJ5 CYP11B1 CLCNKB HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY CDH23 AIP TP53 MEN1 TBX19 GLI3 POMC LHX3 HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS CYP17A1 HSD3B2 CYP11A1 CYP11B1 POR HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY SOX3 AVP BAP1 PROKR2 HESX1 WDR11 GLI2 PDGFB PROP1 OTX2 PIK3CA TERT WFS1 SMO BRAF LHX4 SMARCE1 PUF60 TRAF7 TP63 GPR161 SMARCB1 SUFU CDON CTNNB1 SHH AKT1 ERF FOXA2 ROBO1 TBX3 NF2 POU1F1 HP_POSTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PITUITARY_DYSGENESIS OTX2 SOX3 GPR161 GLI2 LHX4 PROKR2 HESX1 WDR11 CDON PROP1 ERF FOXA2 ROBO1 TBX3 POU1F1 PUF60 HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA AIP PRKAR1A BICC1 CDKN1B CDKN1A GPR101 PKD1 CDKN2B MEN1 PKD2 CDKN2C GANAB HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY SEMA3E CDC73 CHD7 IDH1 TSC2 MEN1 GCM2 NF1 CASR RET TSC1 TBX1 PRKAR1A FLCN CDKN1B CDKN1A CLCNKB CDKN2B SLC12A3 CDKN2C IDH2 GATA3 HP_PARATHYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_DYSGENESIS GCM2 SEMA3E TBX1 CHD7 GATA3 HP_ABNORMAL_THYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_MORPHOLOGY TSHR SLC26A4 JAG1 NKX2-1 PIK3CA CDC73 TWNK MINPP1 KLLN KEAP1 APC KAT6B SASH1 TPO PMS2 STAT1 EDNRB BMPR1A EPCAM PTEN FOXE1 ALMS1 CASP10 CLCNKB NLRP1 MMP2 CTLA4 RASGRP1 RRM2B GPR35 IDH2 RAG2 GLI3 SLC5A5 CDKN1B RMRP MMP14 HABP2 TCOF1 GNAS TG CACNA1S AKT1 TTC7A KCNJ10 NSDHL MLH3 DMPK DUOX2 MSH2 SIX1 MSH3 KCNJ18 DICER1 NKX2-5 FLCN MSH6 PMS1 POLR1C POLG TCF4 SEC23B POLR1D EDN3 LMNA PAX8 DCLRE1C ITCH PLCG2 CHD7 ADAMTSL1 RET MEN1 ZFAT FOXD3 MLH1 DNAH1 FOXI1 IDH1 LIG4 KRAS IL2RG IYD SUGCT IL7R GREM1 ECE1 WRN FOXP3 TGFBR2 FASLG SDHB PRKAR1A SEMA3C NRAS SRGAP1 C1S EYA1 FAS RPS20 MST1 USF3 LIFR ADA DUOXA2 NRTN ATRX SEMA4A SDHC POLG2 HRAS CCBE1 CDH23 THRB TBX2 SEMA3D CDKN1A RCBTB1 PRKCD SLC25A4 CDKN2B GDNF SLC12A3 CDKN2C FAN1 RAG1 SDHD HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER SLC12A3 TSHR KCNJ18 CACNA1S CLCNKB GABRA3 HP_CENTRAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOTHYROIDISM BAP1 LEPR PROP1 INSR TERT SMO POU1F1 LHX4 DMXL2 ARNT2 POU3F4 TRH NIN CTNNB1 LHX3 GLI3 SOX3 TMEM67 CDH23 AIP HESX1 PDGFB OTX2 PIK3CA BRAF SMARCE1 LEP TRAF7 KIAA0556 SMARCB1 GLI2 SUFU AKT1 FOXA2 RBM28 PCSK1 MEN1 NF2 POMC SETBP1 HP_NEOPLASM_BY_HISTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_BY_HISTOLOGY BAP1 WT1 CDC73 GLI3 SSX1 ELMO2 EDN3 MTAP TSC2 KCNAB2 POT1 PTEN XPA PTH1R WRN MAPRE2 EPCAM NF1 GPC3 CYSLTR2 ERCC3 MC1R CASP10 RELA H19 ATP6V1B2 TTC37 TSC1 NSD1 DLC1 CTNNB1 KCNH1 GDNF KRT17 BMPR1A AKT1 MLH3 PTCH1 XPC MSH2 EXT1 MSH3 TRIP13 PIK3CA HRAS PRLR GPC4 PALLD CDKN2A RUNX1 REST FOXO1 FIBP SETBP1 SLC37A4 TFAP2A GNAQ TP53 DICER1 PALB2 MGMT BRCA2 FASLG NRAS BRD4 SDHA SMAD4 SOX2 POU6F2 BUB3 RSPO1 MNX1 ERCC2 ANTXR2 KRAS BCL10 SKI KRT10 SDHC SLC25A11 TRIM28 ASCL1 TERF2IP CPLANE1 MDM2 VEGFC NR4A3 IGF2 SUFU ERCC4 ALX4 COMP ACTB CDKN2C ASPSCR1 NF2 PDGFRB GNA11 FLCN COL18A1 CEP57 PTPRJ SLC22A18 POLD1 FLT4 SMO DCC DLST RAD50 CHEK2 RAF1 IDH1 ACD DIS3L2 OFD1 SDHB PTPN11 GNAS VAMP7 MRE11 SKIV2L BMPR1B LRP5 ACVR1 APC PCGF2 STK11 FGF3 DMPK DKC1 BRCA1 SLC45A2 GJC2 PAX6 MSH6 CDKN1B PMS1 LMNA SEC23B SOS1 MITF BUB1B MDH2 PLA2G2A RNF43 SIX6 DDB2 NR5A1 GREM1 ABCA5 TRPV3 C11orf95 KIT KCNQ1OT1 ERCC6 TCTN3 BRAF PTCH2 CCBE1 RECQL4 PMS2 RPS20 BUB1 CDKN1C RET CDKN2B TUBB HDAC4 KCNQ1 FAS CCND1 ODC1 EWSR1 NBN PDGFB SRC RB1 PDE6D SDHD CBL ERBB2 KEAP1 SDHAF2 VHL PDGFRA RAD51C MLH1 MAP3K1 ERCC5 ZFPM2 WWOX PHOX2B AURKA IDH2 PRDM16 BRIP1 DHX37 FH CREB1 MYO1H RSPRY1 SPRED1 KRT1 TRIM37 MEN1 BDNF RERE YY1 CTSC FGFR3 RAD51D KIF1B TGFBR2 SRY MBTPS2 NEK9 COL1A1 APC2 EXT2 SSX2 PDGFRL AXIN2 SEMA4A CDK4 POLE TLR2 ASXL1 TRAF7 GATA4 TAF15 DYNC2LI1 CDKN1A BAX POLH FAN1 SF3B1 NLRP1 KLLN OCA2 TERT FAM149B1 IFNG FLI1 TBX18 BMPER TET2 MAP2K1 MCC KCNN3 RASGRP1 NUTM1 SQSTM1 FAM20C PAX7 INHBA KIF7 KIAA0753 NOTCH3 PAX3 ADAMTS3 PLCD1 FOXC2 SMARCB1 BARD1 SOX9 TMEM127 RAD51 PTPN12 SRSF2 PHF21A SMARCA4 FLNA TYR EP300 RAD54B TMEM216 SLC6A17 PRKAR1A DHCR24 CXCR4 MAX GABRD NR0B1 DMRT3 GDF5 USF3 PERP SMARCE1 PRKCD SETD2 RPS19 FAT4 HP_EMBRYONAL_RENAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_RENAL_NEOPLASM WT1 PIK3CA PHF21A CDC73 CEP57 NR5A1 DICER1 REST EXT2 GPC4 BRCA2 SRY KCNQ1OT1 BMPER H19 GPC3 DIS3L2 MAP3K1 POU6F2 BUB3 ZFPM2 IGF2 WWOX NR0B1 DMRT3 BUB1 CDKN1C VAMP7 PALB2 NSD1 PTCH1 TP53 HDAC4 FIBP TRIM28 DHX37 KCNQ1 TRIP13 GATA4 PAX6 BUB1B ALX4 SOX9 TRIM37 SETBP1 HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE SNX14 BMS1 GLE1 SLC39A14 LRP4 SGCD CAMTA1 DNAJC13 LIMK1 TCIRG1 CLCN4 SUCLA2 NEB FRMD4A FRG1 GBA NARS2 FOXG1 SPTBN2 SIX5 ELN ADCY6 CTLA4 SOST RRM2B TK2 SIX1 RAB39B SLC52A3 SALL4 TSC1 CHRND CHD7 ARHGEF6 KRT17 DNA2 TRPV4 CHRNA1 TPM2 GFPT1 RYR1 POLG2 ERCC8 AP4E1 AGRN AK9 MEGF10 SLC5A7 KIF1A TNFSF11 HRAS ATP1A3 KCNK4 GIGYF2 COLQ ARX AKT1 COL6A2 GAN IL1RAPL1 SHANK3 SETBP1 MYH7 ATP6AP2 TFAP2A KDM5C SCN4A SEMA3E POLG TBCD LMNB2 MYD88 COL13A1 MYMK ZC4H2 ESCO2 MECP2 MAN2B1 GJC2 CHCHD10 PABPN1 FKRP NRAS STRADA CHRNE COL6A3 COX8A DNAJC6 HAVCR2 DES FTL LMNA UNC80 F12 PEX1 NOD2 RPS6KA3 MID2 LRP12 CRPPA CLCN7 SELENON LAMA2 ATXN1 LRP5 KRAS COL4A1 SDHC SLC18A3 GMPPB TSPAN7 PODXL MTMR2 GNPTAB CNTNAP1 PLEC JAM2 HLA-DPB1 PPARG ADSS1 SUFU ANKH GNE LTBP4 TECPR2 GTF2IRD1 PEX16 SPTBN4 ALG14 PEX11B NF2 ALS2 MYO9A PEX5 SLC52A2 RFC2 SNX10 ERCC6 SMO COX6B1 ACTA1 PEX12 SNAP25 LRRK2 PRKCG ZNHIT3 COX14 DPAGT1 DLL4 ADA2 DNMT3B BAP1 EYA1 CC2D1A CHRNB1 CLIP2 SQSTM1 DSE COA3 GRIA3 PLAA PCGF2 NEU1 MGME1 AP4B1 ERLIN2 DMPK PPP2R5D MSX1 CHKB CACNA1S PEX19 IQSEC2 STAG2 RAB11B COL6A1 SEC23B SMCHD1 SLC25A1 ZNF41 PRTN3 TPM3 DNAJB6 IRF2BPL GSN CDH11 ZNF711 PEX2 ZBTB11 KCNK9 FBXO7 PPP2R1A FKTN CHAMP1 DNM2 SYP MSH6 RIN2 GDI1 ABCA1 MYPN POLR3A SLC9A7 PIEZO1 SNCA TTN XYLT2 CFL2 PSMB4 PTEN COX20 ADCY5 NGLY1 MPZ EIF4G1 SYT2 LAMB2 DNM1L SLC25A4 SLC25A21 POMT1 MED12 TUBB6 MTM1 MTMR14 SDHD OPA1 AMER1 IRF6 TRIM32 PIK3CA DHCR7 KLHL41 SCO1 CAPN3 SH3TC2 VAMP1 RECQL4 ALG2 FTSJ1 TACO1 ALB UPF3B ATRX HERC1 PET100 GLI3 HCFC1 SYNE1 SLC29A3 TUBB3 LMOD3 PLA2G6 ADAMTS3 SLC18A2 GNA14 PEX26 IGSF3 ANO5 CXorf56 GNAQ TXNL4A ABCC9 MSH2 AP4M1 SPEG TSC2 COX10 ADAMTS2 GPR101 PEX3 BTNL2 RAPSN AP4S1 SLC12A6 YY1 ASXL1 MYL1 COA8 AIP GJA1 MUSK RNASEH1 CLCF1 SOX18 POMP TNFRSF1A PEX13 CNKSR2 DCTN1 ATP13A2 BIN1 YME1L1 PTDSS1 DOK7 AMPD2 BAZ1B PDGFB CCBE1 FLNC VPS35 KCNJ6 SERPING1 POMT2 TRAF7 MT-TN HLA-DPA1 SCO2 COL12A1 KCTD1 MYOT REV3L ACTG1 MSTO1 PTCHD1 ACSL4 MLH1 CRYAB TET3 TWNK TERT KLLN PSMB9 NEFL PLXND1 ACADS GTF2I IFNG ZMPSTE24 USP27X KBTBD13 TP63 PSPH POGZ PEX6 SLC30A10 SPR SLC26A2 VCP HOXB1 NECTIN1 ITGB4 KLHL40 EPHB4 ALG13 ASAH1 KY AGTR2 SLC6A3 PLCD1 VPS13B DUX4 PAK3 SMARCB1 PTPN22 CRLF1 OFD1 CAMK2G WASHC5 FRMPD4 CCDC22 DLG3 MGAT2 CHAT PEX10 TBL2 SDHB PEX14 LARGE1 PPP2R2B DMD MT-TE USF3 SUMF1 HLA-DRB1 MEN1 PYROXD1 SMARCE1 C12orf65 STAC3 USP9X SYNJ1 SLC25A42 KPTN TGFB1 UBA1 ANTXR1 ACTB BAG3 PUF60 ZNF81 CD96 HP_MIDFACE_RETRUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDFACE_RETRUSION LIFR CCDC8 MYSM1 POLR1A CCDC47 PDGFRB SLC6A8 CLCN4 MGP B4GALT7 KCNAB2 RPS28 CHD1 AIFM1 FGFR3 FTSJ1 A2ML1 FGFR2 AMMECR1 ZBTB20 SETBP1 RRAS2 TGFB3 SLC26A2 FLNB CTSK UPF3B SIX3 NXN GRIN1 COL2A1 COX7B CPLX1 ATRX MED13L B3GALT6 MRPS14 RAI1 TCF12 RAB39B HCFC1 PRDM16 FZD2 ARHGEF6 TBX1 WASF1 GLI2 BANF1 HCCS RUNX2 GMNN IFT52 COL11A2 FGFR1 CXorf56 BPTF TSR2 GHR IREB2 UBE2A KIF1A ROR2 BMP2 DCHS1 ARX SHH POLR1D FIBP PITX2 ALG12 IL1RAPL1 ACTB CEP120 HSPA9 NKAP DLX4 RERE PRKAR1A COG1 LRP2 PEX1 MRAS PTRH2 AGL MECP2 MAN2B1 FBN1 MLXIPL POMGNT1 DVL1 FAM20C MEGF8 POR NFIX SOX11 CNKSR2 TMEM165 RPS6KA3 NF1 COL11A1 MID2 NRAS SMCHD1 YME1L1 BRF1 LRPPRC IQSEC2 EBP DVL3 SKI OBSL1 RAB23 SLC35D1 TSEN54 AMPD2 CHD3 KMT2C WAC SEC24D CBL TSPAN7 ZIC1 IGF2 PTCH1 PKD2 WNT5A COL1A1 MAF LTBP4 ERF USB1 P4HB SOS2 SOST PTCHD1 ACSL4 COL18A1 CHST3 PSMD12 CDH11 RAB3GAP1 ATP6V0A2 RNF13 TWIST1 TONSL PPP2R5D KIF22 BICD2 ZNHIT3 FOXC1 ACAN USP27X RASA2 BCL11A KIF15 DEAF1 PDE4D POGZ MTOR DSE SEC23A IFT81 SF3B4 HOXB1 SMAD4 TCF20 STAC3 EHMT1 PIGV SLC9A7 EFTUD2 CDC42 TCOF1 GPC4 ALG13 AGTR2 KRAS NECTIN1 PAK3 MN1 POLR1C DDR2 ITCH PIK3R1 ZNF41 POP1 SOS1 PYCR1 WDR35 FLII FRMPD4 LZTR1 TMCO1 LBR PTPN11 ZNF711 B3GAT3 ELN POU1F1 CUL7 DLG3 SLC25A24 SYP SERPINH1 KCNQ1OT1 FLNA CTCF SP7 RAF1 GDI1 DHX37 DMD RAB3GAP2 TUBGCP2 CANT1 GABRD HECW2 CDKN1C RFWD3 RIT1 CILK1 LMNA HDAC4 LINS1 KCNQ1 BMP4 RRAS IARS2 FAT4 NDUFB11 USP9X BUB1B MED12 SATB2 ANTXR1 TBL1XR1 WDR73 ZNF81 OSGEP HP_HAMARTOMA_OF_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_TONGUE C2CD3 TMEM216 KIF7 TMEM231 PLCB4 GNAI3 TMEM107 OFD1 INTU KIAA0753 NEK1 EDN1 DYNC2H1 FAM149B1 WDPCP CPLANE1 TCTN3 PDE6D HP_BIFID_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NOSE FREM1 ZSWIM6 ALX3 ALX4 NF1 TBX4 HYLS1 ALX1 HP_TYPE_1_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_MUSCLE_FIBER_ATROPHY FHL1 ITGA7 LMNA MYL2 SELENON TMEM43 MAP3K20 ACTA1 TPM2 TPM3 HACD1 EMD SYNE2 RYR1 SYNE1 HP_DECREASED_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PATELLAR_REFLEX DYNC1H1 HADHA HADHB FBLN5 MYH7 LDB3 HP_INCREASED_CEREBRAL_LIPOFUSCIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CEREBRAL_LIPOFUSCIN CLN5 TPP1 DNAJC5 CLN8 PPT1 CTSD CLN3 CLN6 PSAP HP_SUBMUCOUS_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_SOFT_PALATE KCNK9 SON TP63 STAC3 NEK1 UBB GRHL3 POLR3A HP_ABNORMALITY_OF_FACIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SKELETON TWIST1 CTBP1 WNT10A AMMECR1 TCOF1 RAB3GAP1 CD19 DNAH1 UBE3B UPF3B SOST SIX3 FGFR2 MOGS COL2A1 NSD1 FGFR3 BPNT2 PUS7 CACNA1G HCCS SF3B4 WDR35 CC2D2A BGN GFPT1 PTCH1 NEB RUNX2 BPTF NUP133 SEC23A EMG1 KCNK4 FGFR1 FAM111A MYH8 NECTIN1 ICOS CEP57 ESS2 BSCL2 PIEZO2 IFT43 ESCO2 MRAS SLX4 MECP2 INSR OCLN GLB1 POMGNT1 CHRNG CCDC65 NFIX BUB3 DHODH NALCN SLC26A2 ATRX TRIP11 KDM6B PEX7 BRF1 RAB18 PHGDH DOCK3 SEC24D TBC1D20 FBXL3 TOE1 IGHM SOX9 SALL4 EBP ANKH LTBP4 UFD1 LETM1 SH3PXD2B TBCE SH2B1 TAP1 FOXJ1 WIPF1 RPGR SLC9A6 RAF1 PKHD1 EP300 ALX3 DNAL1 IRF6 ANKRD11 EXTL3 DEAF1 SIN3A CUL7 PDE4D WDPCP PLK4 TBC1D7 ACTG2 WAS DOK7 SMAD4 ERCC3 EFTUD2 DCHS1 MAFB PEX5 CEP135 ERLIN2 DNMT3B BCR FBN1 CRIPT CCDC40 STAG2 NEK10 CREBBP OTUD6B DNAI2 DNAJC21 SLC25A1 HBB IGLL1 CRPPA EZH2 TERT NSD2 PEX2 TNNT3 MAD2L2 ZMPSTE24 MED12 GRIP1 VPS13B DYNC2H1 PEX13 DGCR2 SLC18A3 CHSY1 NAA10 TGFBR2 BDNF HUWE1 ARX PIGN RPL10 COL5A2 BLM ABL1 RIT1 TRAIP TUBB LMNA TNNI2 CCDC114 TNFRSF11A ADA FAT4 ERCC5 PRKAR1A LRP4 GRHL3 TAPT1 ERCC4 CDC6 RECQL4 PALB2 PDE6D ASNS COL13A1 NSDHL ACTA1 ACSL4 MYO18B RTTN MCIDAS SC5D A2ML1 GPC6 COL6A2 TGFB3 NUP188 RPS6KA3 ZNF335 TPM2 SHOX CD79B AMER1 TUBB3 MRPS22 FZD2 EDA HSPG2 TBCK GMNN HYOU1 COL11A2 COLEC11 OFD1 RREB1 TMEM237 GJB6 SELENON LRP5 PAH WASHC5 CFAP298 TMEM216 PITX2 TMCO1 ACTB PEX19 TRMT10A TONSL NXN RSPH9 GALNS IGF1 HELLS MAN2B1 ADGRG6 WDR60 RSPH1 TAB2 CCDC39 ARMC4 PSMD12 POR CNTNAP1 SLC25A24 TMEM165 GNPAT AEBP1 RIPK4 LIFR DNAI1 FLNA ATP6V0A2 BCL11B PIK3CA CENPF CCBE1 RYR1 CDC73 ZDHHC9 TBX4 GP1BB RHOBTB2 REV3L ERF P4HB ERCC1 RAD51 SLC16A2 SLC6A8 PEX11B PCNT PSMB9 COL3A1 ADAT3 LIG4 ERCC6 CENPJ FLNB MFAP5 SMC3 EPG5 MAP2K2 APC BCL11A WDR26 BRAT1 LOX ERGIC1 BRAF CRKL FMR1 FAM20C HOXB1 PIGO TBX22 RLIM ADAMTS3 PIGL ADAMTSL4 RAD51C GNPTAB GLI2 IDUA TBX1 TBL1XR1 POLE CD96 LRRC6 DPH1 SETD5 MYL2 LZTR1 CCDC22 POGZ POU1F1 WNT5A COL6A3 MGAT2 CNTNAP2 PARN ASXL2 KDM5C SLC6A17 UBB DHCR24 PIGW TTC25 CANT1 SLC35A3 AHDC1 TGFBR1 SLC25A19 CLCN7 RRAS IARS2 KIF7 MAT2A TP63 NDUFB11 ANKLE2 BUB1B RAI1 IGFALS ANTXR1 KLHL41 ACAN OSGEP SMS PIGY PDGFRB LIMK1 PRRX1 RPS28 KIFBP CD79A AFF4 MAPRE2 CCNK SLC6A9 ELN CTSK DPM2 CEP55 ATR CLIC2 FGFRL1 FUT8 PAX3 DNAH9 ORC6 WDR4 BTK RSPH4A CHRNA1 XPC ERCC8 SLC5A7 TNFSF11 ROR2 HMGA2 NCF4 TWIST2 POLR1D IGF2 ITGA8 CYBC1 EYA1 TBCD MYMK ZC4H2 LRP2 AGL DZIP1L OTX2 IL21R PLAGL1 SKI MIR140 RERE MAPK1 B9D1 LAMA2 EXT1 CTU2 LRPPRC HNRNPH2 DNAAF6 FOS CPLANE1 KAT6A C2CD3 POLR1C STAMBP LEMD3 HLA-DPB1 FARS2 ADAMTS2 SOS2 CCDC103 PIGV NUP88 MYO9A PEX14 CDH11 ADAMTS10 IRF8 BICD2 SMAD3 ZNHIT3 ARNT2 ZBTB24 FRMPD4 TCIRG1 C1S FUCA1 CFI GNAS GHR FGF3 BRCA2 NELFA NSUN2 TRRAP DDR2 PIK3R1 BRCA1 PRTN3 EMC1 PYCR1 CSPP1 DPM1 CYBB TCTN2 TARS1 FLVCR2 COL5A1 KDM6A NUP107 SP7 CAV1 RAB3GAP2 PIEZO1 TTN ERCC2 EFEMP2 BUB1 PSMB4 CIITA DNAAF5 TFAP2B INTU SPECC1L COL1A1 GLDN PYCR2 DOCK6 SPAG1 DNAAF1 SON SATB2 RSPRY1 GBA TRIP4 PGM1 KAT6B NOP10 IFT80 RBM8A SPRTN ALG11 CTNNB1 COX7B SETD2 COG4 GLI3 HRAS LMOD3 CENPE RFT1 CTDP1 SCARF2 TCTN3 COL11A1 UBE2A SEMA3E FANCF TGFB2 CHD7 GPR101 SHH HYLS1 SPRED1 SH3KBP1 SFRP4 RSPO2 SPEF2 FANCG PPP3CA HDAC8 NIPBL YY1 ASXL1 SLC2A10 RSRC1 ANK1 AIP GJA1 TAZ RUSC2 FANCI APC2 MSX1 PIGA ACP5 AIFM1 TPRKB MCM5 NRAS PTDSS1 TAPBP RTEL1 CBL HACD1 RPGRIP1L SMO LARP7 DYM ARHGAP29 LOXL3 CUL4B NOTCH2 CHST3 DRC1 MBD5 CCDC88A SMOC1 PLXND1 GAS2L2 EIF4A3 XPA PPP1R15B PIGT XRCC4 KCNN3 RASA2 CA2 DHCR7 OPHN1 B9D2 COL12A1 PSPH AP4M1 IGBP1 RNF168 EHMT1 IBA57 KIAA0753 DNMT3A MYPN DNAH5 FCGR3A PQBP1 FOXC1 ORC4 CRLF1 IFIH1 WDR73 TAP2 DPYD TP53RK PTPN11 KRAS TRIO TGDS ERMARD PEPD AXIN2 DNAAF2 PRRT2 VAC14 FHL1 PUS1 NHP2 NBN CWC27 PEX3 CDT1 PYROXD1 PSAT1 GLE1 KPTN MAMLD1 DKC1 EED ARID2 HBA2 SOX18 POLR1A NEK9 BLNK GPC3 RRAS2 OSTM1 CTLA4 BRIP1 SIX1 MED25 ATM KCNH1 SH3BP2 GSC BANF1 PEX1 MYH3 LGI4 NCAPG2 ATP7A GAS8 DGCR8 COLQ ABAT HDAC6 PI4KA RNF113A SETBP1 TFAP2A CHST14 CHRND RPGRIP1 CEP120 GATAD2B EDNRA COL6A1 PEX10 NEK1 PTCH2 DVL1 SUFU AGA RAD21 NEDD4L TGFA CEP290 CASK FLCN FANCA KLHL7 DGCR6 PEX12 DSE CHUK RAB23 VARS1 GEMIN4 TSEN54 TAF1 XRCC2 TMEM67 MPLKIP CCDC8 TENT5A HYMAI SSR4 DNAAF4 OCRL SUZ12 ALX4 AGPAT2 ATAD3A TINF2 HSD17B4 GTF2IRD1 COG8 FANCB IL2RG WT1 GPKOW FANCM AGRN MEN1 C12orf57 DIS3L2 CLIP2 COG6 COMT PAX9 PLEKHM1 PLAA SOX5 PCGF2 HIRA PTH1R PLA2G6 RNF125 SRY CPLX1 TMEM107 WDR34 SOS1 DNAJB13 GNAI3 WNT3 MKS1 TRPS1 KCNK9 DDB2 FGD1 GATA4 RFXANK TGFB1 STRA6 POLA1 KMT2A RPS26 CCNO CILK1 NCF1 COL1A2 TPM3 IGF1R ALX1 LRRC56 DLX4 CTC1 ERBB3 PMM2 NSMCE2 POLR3A WNT10B THOC6 CSNK2B MGP GPC4 CEP152 NF1 PEX16 COASY CFAP221 RNU4ATAC B3GALT6 B3GLCT STK36 MSTO1 ATPAF2 TXNL4A LAS1L NME8 LAGE3 TRIM37 ACTA2 SLC12A6 SEMA5A COG1 UBE3A TBX15 PRKG1 TAT KCNJ2 MYH7 FANCD2 IKBKB SCN9A DVL3 IL11RA SUMO1 BAZ1B UBA1 HS6ST2 RBBP8 NONO ACTG1 CAVIN1 DLG1 PLCB4 COL9A3 EDARADD MAP2K1 CCDC151 PTEN MUSK ATRIP SPEG IRX5 ZBTB20 ZMYND10 ECEL1 CDCA7 AKT1 HYDIN PUF60 CTNND2 PGM3 ALG1 ALG9 TNFRSF13B POC1A FLII MYOD1 EXT2 CHAT ARL6IP6 SERPINH1 ATP6V1A CXCR4 PHIP MAN1B1 FOXE1 RSPH3 ATP6V1E1 NOTCH3 DPAGT1 SNRPB RPS19 ABCC9 DSTYK DNAH11 DOCK8 SLC39A14 INPPL1 FBN2 FANCL FOXG1 TNFRSF13C MAP3K7 COG7 SIX5 KIF11 ARID1B C1R MED13L ATP6V1B2 NGF WRAP53 SMC1A KIF14 BMP2 MTM1 DYRK1A LRBA RHOA PEX6 KIF1A TELO2 DNA2 SNIP1 SHANK3 MMP2 TMEM70 MEGF8 MCTP2 AP3D1 ARVCF KIAA0586 COL9A2 NFKB2 HBA1 DONSON IQSEC2 SLC35D1 VPS33B IL1RAPL1 UBE2T HERC1 BNC2 MAF EDN1 USB1 PPARG STAG1 COL10A1 MYH11 RBM10 PREPL RFC2 SNAP25 NCF2 FOXP1 LTBP3 PNKD GORAB MYCN CHRNE JMJD1C GRIA3 ZBTB18 RPL5 ASPH AUTS2 KIF22 CXorf56 CR2 B3GAT3 ZBTB11 SIX2 CSNK2A1 CDC45 KCNJ6 CDH1 CFL2 MYLK SEC24C MAGEL2 BMP4 FTO SYT2 LAMB2 PRMT7 RB1 DNAAF3 PGAP2 FANCE CYBA VAMP1 NTRK1 RFWD3 YARS2 UNC119 CLCF1 SLC10A7 HNF4A GTF2H5 IGSF3 TSR2 INTS1 HNF1B PEX26 TRIP13 CDK5 P4HTM CFAP300 FIG4 GTF2E2 ZNF341 RFXAP AIMP2 NRXN1 MLXIPL ORC1 CHN1 NDP LRP6 PNP ITGA7 HLA-DPA1 LRRC8A RARB PLOD3 RDH11 RAPSN LBR FAM149B1 GATA1 CLCN4 WNT7A GTF2I BMPER KBTBD13 KCNE5 UNC80 COG5 NPM1 COL9A1 D2HGDH STAC3 SLC29A3 HERC2 PAX6 TTC12 PTPN22 IL17RA ARCN1 BIN1 ADAMTSL1 ANO5 SCYL2 CLTCL1 TERC ABCD4 NHS SIM1 OBSL1 PHF21A SLC3A1 HNRNPU PAX1 FANCC TBL2 POLD1 TUBGCP2 TCF3 KCTD1 KNL1 MITF TMEM231 TBXAS1 MAP3K20 PGAP3 RFX5 FOXE3 SPATA5 AP1S2 HP_BROAD_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CHIN EBF3 KANSL1 LMX1B TAF1 STXBP1 HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY ABCC9 ACD FGA KRT14 CYBA DHCR7 ELMO2 LIMK1 SLC46A1 NAGA F7 SC5D ABCA5 NOP10 TERT NTRK1 STK11 STAT5B LAMA3 MEFV OSTM1 ELN IL12A-AS1 ALMS1 CASP10 SLC6A19 NXN C1R ELANE EMC1 KRT5 ATP6V1B2 GNAQ DYNC2LI1 NGF WRAP53 PML SLC29A3 GP1BA STAT3 TSC1 INSR FZD2 KCNH1 EDA F10 PRF1 SAA1 SCARB2 HYOU1 ITGB3 NHP2 ITGB4 CCR1 ITGA6 COL7A1 CTSC AEBP1 KLRC4 PLG CD40LG EVC KIF1A ACVRL1 TSC2 ROR2 NCF4 LBR KCNK4 WDR26 COL17A1 FGFR2 ADAMTS2 GP9 BCOR HYLS1 REST DCLRE1C FERMT1 NOD2 NLRP3 TMCO1 ITGA2B F5 FIG4 PRKDC SETBP1 IRF2BP2 PLEC CYBC1 MMP2 AIMP2 CAT MYD88 LMAN1 ZBTB16 MYSM1 GJB2 C1S ANTXR2 MAN2B1 F2 FCGR2C TINF2 FASLG DVL1 COL3A1 FAM20C PLAGL1 MBTPS2 C4A NFIX CNTNAP1 UBAC2 FAS NUMA1 PIGA PTPRC ZAP70 RARA KIF7 CARMIL2 LAMB3 LYST DVL3 KRT4 LAMC2 KYNU ORAI1 BAZ1B RTEL1 EVC2 GJB6 CCBE1 SOS1 KCNJ6 FAM20A FIP1L1 FGB TNFAIP3 HYMAI IL17RC SPP1 MMP14 OCRL WNT5A DSP GBA MPL IER3IP1 F13A1 TLR4 NPM1 GTF2IRD1 FGG CTC1 SH3PXD2B GFI1 NOTCH2 IL12A RFC2 KLLN SBDS ENG WIPF1 SLC17A5 SRP54 KRT16 LMBRD1 GTF2I PRKAR1A MVK IFNG NCF2 ZNHIT3 TET2 KIF23 WAS SAMD9 KCNN3 EXTL3 GNPTAB NABP1 IL10 CLIP2 RASGRP1 GORAB STAT4 RELA SLC37A4 KCNMA1 GLB1 IL23R SMAD4 DNAJC21 PDGFRB ERAP1 KRT6A DKC1 JUP NOTCH3 RIN2 FGF3 ADAMTS3 TBCK GLI1 RNF125 COL5A1 TBL1XR1 GLMN ECM1 TBC1D24 IRAK1 TERC HPS1 CYBB IDUA TCIRG1 IL7R KRT17 HLA-B MGAT2 TRPV3 COL1A1 PARN VPS13B TBL2 RMRP GP1BB DHCR24 F8 TCTN3 SERPINF2 TGDS CXCR4 VAC14 ITGB2 AGA IL1RN PIGN PIGS COL5A2 ITK NCF1 PERP USP9X SLC35C1 BLOC1S3 RHOH IL6 USB1 KRT6B PRMT7 PRKCD FAT4 MCFD2 F13B B4GALT7 GUSB EFL1 AP3B1 CD96 JAK2 NLRP12 HP_MOYAMOYA_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOYAMOYA_PHENOMENON IFIH1 PCNT TREX1 GUCY1A1 ACTA2 RNASEH2A SAMHD1 RNASEH2C ADAR RNASEH2B HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY RFXANK RFXAP CR2 ESS2 LEPR CTPS1 RASGRP1 WAS CASP10 EPG5 CD19 DGCR2 FASLG ARVCF SLC39A4 TBX1 RAG2 COG6 COMT CIITA DGCR6 HLA-DRB1 GATA3 AK2 RAG1 MAGT1 JMJD1C RAB27A UMPS SEC24C RFX5 TNFRSF13C CASP8 ADA HIRA LEP FAS RREB1 WIPF1 CD40LG PNP DGCR8 JAK3 PGM3 GP1BB UFD1 CD3E ICOS TNFRSF13B HP_ABNORMAL_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STERNAL_OSSIFICATION FGFRL1 CTBP1 CPLX1 NSD2 NFIX ORC6 FIG4 VAC14 LETM1 CD96 ORC1 SOX9 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 ACP5 VPS33A GNPTG GALNS FUZ PCNT ERCC6 GATA1 TRAPPC2 GPC4 TBX15 FGFR3 EIF2AK3 GLB1 ZBTB20 EED EP300 HDAC6 RPS6KA3 MATN3 AIFM1 RNU4ATAC GPX4 B3GALT6 SEC23A ARSB PTH1R BGN RAB23 SMAD4 VANGL1 RUNX2 SEC24D IHH COL2A1 CCBE1 FLNA NANS GNPTAB ERCC8 SOX9 WNT7A ATP7A CREBBP EVC EVC2 DDR2 GPC3 TRIP11 EZH2 DYM MMP13 AMER1 HP_ABNORMAL_PLATELET_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_FUNCTION ITGA2B LZTR1 SLC35A1 PTPN11 KCNJ1 MRAS WIPF1 A2ML1 THPO GATA1 RRAS2 RAF1 GP1BB RASA2 FLI1 VWF ITGB3 NRAS WAS GP1BA RIT1 RASGRP2 GP9 DTNBP1 NBEAL2 P2RY12 CBL EPHB2 PLAU RRAS BLOC1S3 SAMD9L KRAS PLA2G4A RUNX1 SH2B3 HPS6 GNAS SOS2 GUCY1A1 CALR ABCG8 TBXA2R SOS1 CISD2 HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION GP1BB GP9 ITGB3 ITGA2B GP1BA HP_ABNORMAL_PLATELET_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_COUNT KMT2D NHP2 SMARCAL1 ARHGEF1 ATRX NHEJ1 RAG1 JAK2 ARHGAP31 FANCL TERT STAT5B STAT3 RNASEH2C ITGA2B OSTM1 CASP10 BRIP1 ERBB3 RUNX1 PCCB FLI1 ELANE CD81 PNP THPO WRAP53 ADA2 TTC37 MPL RNASEH2A LAT LRBA MAD2L2 GATA1 SMARCD2 CFH TNFSF11 TNFRSF13B HLA-B BCOR CFI MPIG6B CTLA4 SLC7A7 CALR AGK GBA IRF2BP2 VPS33A DOCK6 MYSM1 SLX4 PCCA ESCO2 DHFR LACC1 CD46 OCLN FASLG TREX1 STX11 SLC19A2 NBEAL2 GP1BB CORIN ARVCF NUMA1 DLL4 GP1BA RAG2 SCARB2 PSMB8 FANCA NFKB2 MYH9 TFRC CLCN7 WFS1 FANCB LYST TPP2 XIAP RBPJ XPR1 XRCC2 PLAU PTPN22 TNFAIP3 PDGFRB FAS SPP1 RNASEH2B OCRL UBE2T FYB1 TINF2 VPS45 NPM1 APOE ACAT1 PMM2 UFD1 CTC1 ICOS PRF1 FANCM ERCC4 FCGR2B FANCE SNX10 WIPF1 MMAA LMBRD1 SRP54 DGUOK ANKRD11 STIM1 LMNA NABP1 GALC COG6 COMT VWF IFNG MTOR STAT4 WAS SKIV2L JMJD1C ARPC1B IVD NOTCH1 HIRA DKC1 ADAR BRCA2 IFIH1 TBL1XR1 NSUN2 CFHR1 DIAPH1 SBDS SH2B3 BCR ACD BRCA1 IRAK1 PTPN11 SLC35A1 FANCG HMGCL FOXP3 LARS2 PRKCD TALDO1 ADAMTS13 PRDX1 ABCA1 RFXANK SF3B1 TERC TBX1 CD36 DCLRE1C PSMB4 CIITA TET2 STOX1 CR2 ACAD9 SEC24C ANKRD26 PEPD ABL1 MMUT NBN ALG8 STT3B PALB2 ASAH1 SLC46A1 G6PC3 SC5D NOP10 RBM8A RFWD3 RPSA SALL4 TBXAS1 ETV6 SAMD9 SPATA5 PML GFI1B GNA14 HLCS HYOU1 PHGDH HPS5 TNFRSF11A UROS CD19 RREB1 CD40LG FANCF SAMHD1 LBR HOXA11 GP9 THBD ACTN1 USP18 NRAS PSAP TNFRSF13C ITGA2 PDGFB FANCC MYORG RFXAP NIPBL COG1 ZBTB16 FCGR2C FLT1 SP110 CFB TUBB1 FARS2 POMP SMPD1 FANCI IKZF1 FANCD2 MMACHC TMEM165 ACP5 ZAP70 SLFN14 RARA MTHFD1 LIG4 TCN2 DGKE RTEL1 FIP1L1 COL4A5 MECOM EFL1 ADA MVK SRC RAD51 PSMB9 C3 NFKB1 PRKAR1A STAT1 PRKACG MAP2K1 FLNA MMAB CA2 ATP7B KIF15 MS4A1 IFNGR1 RASGRP1 ITGB3 UQCRFS1 DNAJC21 CDC42 RAD51C BTNL2 SH2D1A BRAF TBC1D24 GATA2 ABCD4 SAMD9L IL7R ERCC6L2 STING1 PARN EOGT DNASE1 HELLPAR SLC20A2 CYCS COG4 TNFSF12 HBB ITK HLA-DRB1 RPS14 CD109 BTK SARS2 CD55 USB1 ZMPSTE24 RFX5 RPS19 FCGR2A GUCY1A1 KDM6A JAM2 CFHR3 NOS3 AP3B1 BLOC1S6 KRAS HP_ABNORMAL_PLATELET_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MORPHOLOGY JAK2 SH2B3 GFI1B ITGA2B RUNX1 HPS4 TET2 GATA1 SLC35A1 HPS6 TP53 WIPF1 SC5D MPL ACTN1 ITGB3 HPS3 CALR WAS HP_ABNORMAL_PLATELET_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_VOLUME GP1BB TTC37 SKIV2L MYH9 SLC35A1 GP9 ARPC1B CDC42 GP1BA SC5D PRKACG WAS TUBB1 FLNA ITGA2B FYB1 LBR CD36 ACTN1 ITGB3 ABCG8 GATA1 HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION ITGA2B SLC35A1 GP1BB GP9 GP1BA ITGB3 HP_ABNORMAL_PLATELET_GRANULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_GRANULES GFI1B HPS6 RUNX1 HPS4 HPS3 SLC35A1 HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING F13B F2 F10 SERPINF2 F13A1 HP_HEMORRHAGE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMORRHAGE_OF_THE_EYE GNA11 ATP6V1E1 BAP1 HMCN1 CFHR1 ATP6V0A2 NDP LRP5 GNAQ ATP6V1A SF3B1 PRF1 MYD88 FZD4 DNM2 ENPP1 SBDS RANBP2 COL4A1 PROC IKBKG RB1 RS1 ABCC6 CYSLTR2 TREX1 CAPN5 TERT TERC BEST1 CFHR3 XYLT2 ATOH7 IFNG XYLT1 APOE TET2 HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA MCFD2 F8 F13B F13A1 LMAN1 KRT1 HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE GP1BB F8 F2 GP9 LMAN1 F11 F7 P2RY12 GP1BA F10 KIF23 F13B F13A1 ITGB3 VWF ITGA2B MCFD2 F5 HP_POST_PARTUM_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POST_PARTUM_HEMORRHAGE KIF23 F7 F8 F2 F10 F5 F13B F13A1 HP_ABNORMAL_LEUKOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEUKOCYTE_COUNT DOCK8 SMARCAL1 CASR ATRX MPLKIP NHEJ1 RAG1 BLNK RPS28 ARHGAP31 FANCL MVK TERT CD79A STAT5B LIG4 LAMTOR2 CASP10 GSS PDGFRA BRIP1 RUNX1 PCCB FOXN1 ELANE CD81 PNP RAG2 ADA2 STAT3 TTC37 FUT8 ATM TRNT1 CHD7 MTRR LRBA MAD2L2 HAX1 SMARCD2 SPINK1 TNFRSF13B BCOR DCLRE1C CTLA4 SLC7A7 RNF113A ICOS IRF2BP2 PRSS2 SEMA3E XRCC4 DOCK6 GINS1 MT-TW TET2 MYSM1 SLX4 PCCA KIT LACC1 OTULIN CASK FASLG CD3G STX11 AGA AP3D1 CD40 NUMA1 DLL4 FANCA NFKB2 TFRC JAK2 SPINK5 FANCI CFTR LYST TPP2 XIAP RBPJ DOCK2 FIBP XRCC2 PTPN22 IGHM TNFAIP3 FAS SPP1 CXCR4 RFXAP UBE2T WAS UNC13D SRP54 CSF3R VPS45 NPM1 ACAT1 CARD11 USB1 CLPB FANCB IL2RG RFXANK SEC61A1 PRF1 LPIN2 FANCM ERCC4 CD3D FCGR2B FANCE PIK3R1 WIPF1 MMAA SGPL1 LMBRD1 HBB CORO1A TONSL JAGN1 CD3E EXTL3 NABP1 NLRP1 GATA2 IFNG STAT4 GFI1 RMRP SKIV2L ERCC3 FERMT3 RAB27A ARPC1B IVD CALR TTI2 NLRP3 DNMT3B NOTCH1 DKC1 LEP BRCA2 ZBTB24 CTRC TBL1XR1 JAK3 SBDS STK4 ITCH PRSS1 RPL35A BCR BRCA1 IGLL1 IRAK1 CD8A UNC93B1 TCIRG1 SLC35A1 G6PD TARS1 FANCG LEPR HMGCL FOXP3 RTEL1 VPS13B LMNB2 RNU4ATAC PRKCD PRDX1 SF3B1 TERC CCBE1 RECQL4 PSMB4 CIITA AK2 MAGT1 CR2 IL2RA MYC LCK SLC35C1 ADA ABL1 BCL11B MMUT GATA1 PALB2 STAT1 NLRP12 CBL CAPN3 SLC46A1 G6PC3 RFWD3 SALL4 UNC119 TBXAS1 ETV6 TDP2 SAMD9 COG4 CPA1 GTF2H5 PML ADAM17 SCARB2 SLC27A4 HYOU1 CD19 CD40LG FANCF LBR GTF2E2 TCN2 NRAS HTRA2 TNFRSF13C FANCC ZNF341 MSN CARD9 TRAC RNASEH2B ZBTB16 CTPS1 IL7R HELLS IKBKG RPS7 RASGRP1 TAZ TINF2 SP110 TNFRSF1A PDGFRB FANCD2 MMACHC ACP5 PTPRC ZAP70 RARA MTHFD1 UBE2A TFR2 TCF3 ATP6AP1 TLR3 TRAF3 FIP1L1 ASXL1 TREX1 LRRC8A GBA EFL1 CD247 FMO3 IRAK4 RAD51 RAC2 VPS33A TICAM1 PSMB9 NFKB1 PRKAR1A EPG5 MECOM IKZF1 PTEN MMAB MS4A1 IFNGR1 SLC37A4 CDCA7 SRSF2 MEFV DNAJC21 RPS17 MPL RFX5 ADAMTS3 RAD51C PACS2 BTNL2 SH2D1A PGM3 ERCC2 CD79B ABCD4 SAMD9L TBK1 WDR1 ERCC6L2 STING1 FBXL4 EOGT RPL18 PIK3CD RBM8A DNASE1 DDX41 IL6ST ITGB2 TNFSF12 HLA-DRB1 RPS14 NBN EIF2AK3 BTK SARS2 RPL11 RPS19 TGFB1 FCGR2A FAT4 RPL26 AP3B1 BLOC1S6 FDX2 KRAS HP_NEUTROPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPHILIA TLR3 TBK1 MVK TRAF3 OTULIN TICAM1 RAC2 UNC93B1 SLC35C1 HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN GNA14 PRF1 SLC7A7 SPTB ZBTB16 STAT3 CFH EPB42 FIP1L1 AHCY CD46 FGB NGLY1 STAT5B PRKAR1A FGG HAVCR2 SLC4A1 UNC13D TBL1XR1 STX11 SPTA1 FGA HELLPAR XIAP NPM1 ANK1 NUMA1 NABP1 BCOR RARA CFI PML IRF2BP2 HP_ABNORMAL_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMOGLOBIN CYB5R3 ABCC8 HBA1 APPL1 ATRX RPS24 PDX1 HBB PAX4 HBG1 KCNJ11 SRP54 KLF11 GATA1 HNF1A CYB5A HBG2 CEL HBA2 HNF4A DNAJC21 KLF1 HBD RPL5 NSMCE2 NEUROD1 CD151 BLK GCK MPL SBDS EPOR INS HP_PERSISTENCE_OF_HEMOGLOBIN_F http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_HEMOGLOBIN_F HBB KLF1 RPL5 HBG2 HBG1 RPS24 SBDS SRP54 DNAJC21 HP_CARDIOVASCULAR_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOVASCULAR_CALCIFICATION PDGFRB RNASEH2A GBA GALNT3 PCSK9 LDLR NT5E APOB PDGFB ADAR STAT1 SLC20A2 RNASEH2B IFIH1 TREX1 NKX2-5 FBN1 ABCG8 SAMHD1 SMAD6 LMNA RNASEH2C ABCC6 ABCG5 NOTCH1 ENPP1 GATA5 LDLRAP1 HGD HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN NDUFS1 TACO1 SDHD NDUFAF6 LIPT1 NDUFAF5 COX15 SUCLA2 NDUFAF1 NDUFS3 NDUFS2 NDUFS4 TK2 TIMMDC1 NDUFAF8 NDUFB10 TSFM NDUFAF2 MT-ND2 NDUFA10 TIMM50 MT-TE NDUFA12 DGUOK NDUFS8 TRMU NDUFV2 NDUFA13 MT-ND3 MTFMT ECHS1 TXN2 NDUFB3 NDUFS7 SDHAF1 BOLA3 MRPS14 NDUFA2 NDUFA6 ATP5F1E NDUFS6 SURF1 NDUFB9 FOXRED1 NDUFV1 GTPBP3 GFER ACAD9 TRMT5 NDUFA4 MT-ND1 NDUFAF4 SLC25A26 ISCU PET100 CARS2 SDHA IBA57 EARS2 NDUFA9 SLC39A8 NDUFA1 PDHA1 NFU1 NDUFA11 NDUFAF3 TMEM126B NDUFB11 SLC19A3 NUBPL HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I FOXRED1 GTPBP3 ACAD9 NDUFAF5 MT-ND1 NDUFS2 NDUFV1 NDUFAF4 NDUFAF1 SLC25A26 TIMMDC1 NDUFS3 ISCU NDUFAF8 NDUFB10 TSFM NDUFAF2 MT-ND2 NDUFV2 CARS2 NDUFS4 MT-TE IBA57 EARS2 TXN2 TRMU MT-ND3 NDUFA1 NDUFB3 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 NDUFA6 NDUFS6 NDUFS1 NUBPL NDUFB9 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III CARS2 TXN2 EARS2 ISCU TSFM HP_SHORT_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_DIGIT SNX14 PPM1D TWIST1 KMT2D FGFR3 DYNC2LI1 PIGY CTBP1 LRP4 PDGFRB NPR2 PHF6 CLCN4 KRAS LMNA KCNAB2 WDR35 ARHGAP31 AFF4 ARID1B COMP MAP3K7 LTBP3 GPC3 ARL6 FGFR1 EDA2R RRAS2 FLNB UPF3B CTSK NXN TRPV4 ATRX PORCN IFT80 HOXD13 RAG2 SMC1A TCF12 RAB39B SALL4 FGFRL1 BPNT2 GDF6 IFT122 CHD7 ARHGEF6 KMT2A SHOC2 CHST3 IFT43 RUNX2 COL11A2 GDF5 PTCH1 RHOA SOX11 GJA1 SMARCD2 TBX15 EVC TELO2 ROR2 IFT172 KCNK4 COL2A1 ARX GATA4 IL1RAPL1 SLC25A22 SETBP1 RAI1 BMPR1B SMARCA2 GNAS TFAP2A KDM5C KCNH1 MRPS16 SEMA3E MGP PIGQ SRCAP CHRND RMRP DOCK6 ESCO2 MRAS MYSM1 FLI1 GPC4 PTCH2 BCOR DVL1 FAM20C SUFU MEGF8 RAD21 MCTP2 NFIX DHODH PIGN DLL4 RPS6KA3 MID2 KIAA0586 WDR60 KDM1A MAPK1 MASP1 FANCI EXT1 HBA1 IQSEC2 INPPL1 SKI ATP6V1B2 RAB23 NOG SDHC SLC35D1 RBPJ TAF1 EVC2 TNNT3 WDR19 B3GLCT NKX2-5 OFD1 CPLANE1 TSPAN7 ZFPM2 SOX9 STAMBP FGFR2 EDA LZTFL1 ACTL6B GATA6 WNT5A MAF DCLRE1C SOS2 SLC2A1 LETM1 COL10A1 PIGV MIR17HG TTC21B RPL10 DMXL2 INPP5K TBX1 SIL1 FANCE CDH11 CHRNG ADAMTS10 DPF2 C12orf57 ACAN ALX3 NSD2 EXTL3 DEAF1 GNAS-AS1 SIN3A CUL7 PDE4D GPX4 MTOR PIGP CLCN7 MYCN SMAD4 RPL5 BMP2 MAFB ACVR1 GHR FLNA NOTCH1 BCR PTH1R TGFBR2 NELFA DVL3 CRIPT GGCX GJB4 CPLX1 NSUN2 RAC1 GJB3 GNAO1 RAD51C SEC23B CITED2 ZNF41 SOS1 DYM AKT1 PTPN11 TBC1D24 SOX4 GATA5 ZNF711 TRIO CHRNA7 TRPS1 FZD2 PNPLA6 GRIP1 ARSL FGD1 SLC25A24 NBAS KDM6A YY1AP1 SPART SH3PXD2B SYP SLC26A2 RNU4ATAC ARID1A CSNK2A1 RAF1 RIN2 GDI1 FBN1 KCNA1 SMARCE1 SLC9A7 CHSY1 PIK3R1 EFNB1 NEK1 CDKL5 RECQL4 PTHLH HUWE1 COL11A1 PTEN PIGS IHH RIT1 CILK1 LTBP2 TFAP2B INTU ARID2 SLC35C1 HDAC4 DYNC2H1 CCDC22 NEUROD2 ZMPSTE24 MAGEL2 BMP4 ALX1 PRKAR1A FTO PRMT7 ITGB6 RB1 MED12 HDAC8 BRCA2 PGAP2 MEIS2 PDE6D RAG1 PDE3A ASAH1 SDHD HOXA13 CEP120 ABCC9 PIK3CA DHCR7 GDF1 PPP1CB SMARCC2 STXBP1 TCTN3 UBE2T EIF2AK3 MYMK LSS FTSJ1 A2ML1 SMARCD1 HESX1 SLURP1 CCDC28B FGF9 MSX2 WIPI2 TBX5 NIPBL COG4 GLI3 HCFC1 PRDM16 CHST11 PUF60 WASF1 GMNN IFT52 BHLHA9 CXorf56 ADNP SHOX IFT140 PAH TBX3 ADAMTS2 SCN2A MKKS EOGT RSPRY1 DCPS ABCA12 RAB3GAP2 FIG4 SMC3 MACROH2A1 KAT6A CASK FANCC LIG4 PPP3CA RERE DONSON ASXL1 IL7R ANTXR2 IFT57 SMARCB1 FLT4 ALOXE3 POMP PSMD12 KCNJ2 CNKSR2 AIFM1 APC NRAS JAG1 ADA PTDSS1 SPECC1L CHN1 SMARCA4 NIN CBL TRIM8 MECP2 PIGO ATP7A EXOSC2 ZDHHC9 RBBP8 REV3L NKX2-6 PTCHD1 ACSL4 CUL4B NOTCH2 FANCD2 PCNT KLLN FAM149B1 GATA1 PLXND1 EIF4A3 ADAMTS17 MAP2K1 USP27X WDR34 RASA2 KIF15 IRX5 CRKL FAM111A BBS5 ZBTB20 IFT81 PALB2 TMEM67 SF3B4 KIF7 EHMT1 TCTEX1D2 ERF KIAA0753 DNMT3A KLF13 ALG13 TBX22 KAT6B AGTR2 RLIM PIGL GLI1 PAK3 BBS4 BRAF KCNJ8 PGM3 MBTPS1 PITX1 TBL1XR1 ZIC1 PCYT1A STX16 BBIP1 POP1 PAX3 POC1A CAMK2G WASHC5 FLII SETD5 OBSL1 CHRNA1 FRMPD4 LZTR1 LONP1 LBR PNKP IL2RG POGZ BBS1 DLG3 SIK1 NLRP3 SIK3 SDHB AHSG TMEM216 KDSR PIGW DMD IGF2 RDH11 GJA5 BRIP1 CANT1 GABRD VAC14 USF3 CSPP1 BGN FANCA CWC27 RRAS IARS2 USP9X SLX4 RPL11 PGAP3 WNT4 RPS19 SCN1B TRIP11 ZNF81 PAPSS2 HBA2 LMNB2 ALOX12B HP_ABNORMALITY_OF_THE_CEREBELLAR_PEDUNCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBELLAR_PEDUNCLE CSPP1 AHI1 CEP290 KIAA0586 LAMA1 TMEM216 TMEM67 INPP5E FLI1 SACS NPHP1 HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE CSPP1 AHI1 KIAA0586 LAMA1 TMEM216 TMEM67 INPP5E NPHP1 HP_HYPOPLASTIC_FIFTH_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FIFTH_TOENAIL ARID1A DPF2 SMARCD1 HOXA13 SOX4 SOX11 SMARCE1 ARID2 SMARCC2 SMARCA4 PPP2R5D SMARCB1 ARID1B HP_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_TRACT_INFECTION CCDC39 KMT2D RSPH1 DOCK8 NKX2-1 CCNO SPAG1 LIMK1 MPLKIP RAG1 DSG1 BIRC3 ELP1 TSC2 IL17F BLNK BACH2 SGSH IKBKB CD79A AFF4 ARID1B TNFRSF13C CD19 DNAH1 MYO5A AICDA NOTCH3 ELN LAMTOR2 NADK2 CTLA4 DPM2 PWAR1 GATA6 SFTPC FOXN1 MESP2 ELANE CD81 PNP MED25 ZAP70 RAG2 WRAP53 DNAAF1 STAT3 ATM LTBP3 CLCA4 DNAH9 BTK RSPH3 TERT TYK2 LRBA RSPH4A SOX11 RYR1 TNNT2 SMARCD2 GAS8 SLC5A7 KIF1A ROR2 NCF4 COLQ TNFRSF13B HLA-B CCDC65 COL11A2 ORC6 DCLRE1C CACNA1C GBA RNF113A ICOS SETBP1 CYBC1 MGP VPS33A COL13A1 MYSM1 DNAAF4 FLI1 MECP2 MAN2B1 HLA-DQA1 SCNN1A GLB1 IL21R CSF2RB SELENON INPPL1 CD3G ACADVL COL6A3 NSMCE3 AGA HGSNAT AP3D1 NFIX EXOSC9 KIAA0586 FCGR2A ABCA12 NFKB2 TFRC NDN MAPK1 LAMA2 ARSB LYST TPP2 TGFB1 TNFSF11 XIAP UNG DNAAF6 SCN10A IL2RG CCDC103 CLCN7 IGHM GNPTAB CXCR4 PLEC HLA-DPB1 OCRL RFXAP SCN11A CFB TNNI3 TINF2 MAGEL2 TAF1 SCNN1B CARD11 USB1 GTF2IRD1 SNORD115-1 HLA-DQB1 TBC1D23 DLL3 RFXANK MYO9A SCNN1G RFC2 TAP1 CD3D FOXJ1 AGRN PIK3R1 WIPF1 ACTA1 SRP54 RPGR SNAP25 TSC1 CORO1A IRF8 NCF2 ZNHIT3 FOXP1 EP300 JAGN1 ZBTB24 CD3E DNAL1 EXTL3 NCF1 SNRPN B2M CLIP2 LRRC56 WAS RMRP FUCA1 RSPH9 PEX13 GATA4 CFI ERCC3 ITGA3 PCGF2 ATP6V0A2 DNMT3B LEP BCR NELFA RNF125 NECTIN1 EPM2A TGM1 CCDC40 JAK3 NEK10 MYPN RAC1 CREBBP DNAI2 PLG DDR2 UGP2 NME8 COL6A1 SLC25A1 ECM1 NFKBIA IGLL1 CHRM3 PRTN3 COG6 CD8A STX1A DNAI1 CYBB IDUA GSN EPG5 TCIRG1 DNAJB13 EDARADD CR2 SOX4 NSD2 GAA TARS1 LEPR ALMS1 IL2RB SULT2B1 SLC25A24 SMPD1 WDR19 CHAMP1 FOXP3 RNU4ATAC PLP1 ARID1A CFAP410 TCTN3 MYH3 FCN3 SMARCE1 ALPL SLC18A3 IL17RA NR2F2 CCBE1 SLC52A3 PWRN1 CIITA LRRC6 PIGN CFAP298 DNAAF5 BLM CFTR IL2RA LCK UMPS USP9X ARID2 RUNX2 SLC35C1 TIMM8A NGLY1 CCDC114 TPM3 ADA PEPD KIAA0556 GRHL3 CCDC151 NBN SYT2 PRKCD LAMB2 CTC1 PMM2 DNAAF3 FLNC POLR3A LIPN STAT1 TECPR2 SDR9C7 ASAH1 CRELD1 OSTM1 CYBA VAMP1 SMARCC2 MCIDAS G6PC3 IL17RC PSAP KAT6B SLC1A4 NOP10 MANBA SHROOM4 ALB SMARCD1 GUSB TTC25 SMN1 RIPK1 UNC119 CD79B CFAP221 SAMD9 CYP4F22 GTF2H5 GLI3 SLC29A3 STK36 PLOD1 GMNN GNS OFD1 TNFRSF11A MALT1 NFE2L2 DCTN4 COG4 CD40LG ADNP NPAP1 P4HTM SLC26A2 CFAP300 RAB3GAP2 ALG12 GTF2E2 IL21 BCL10 NRAS PRKDC SH3KBP1 ZNF341 NXN SPEF2 MSN LIG4 MCM4 TBCE GALNS SLC12A6 NIPBL ZMYND10 IL7R NAGLU HELLS CTSC NIPAL4 RASGRP1 SMARCB1 SP110 LETM1 ARMC4 TNFRSF1A IKZF1 MBTPS2 FBLN5 ACP5 PTPRC TPM2 MS4A1 MTHFD1 CARMIL2 UBE2A EGFR PLCG2 PTPN22 BAZ1B TAPBP RTEL1 SNX10 CSF2RA SMARCA4 AK2 DNAH11 KCNJ6 HACD1 SAMD9L ITGA7 ALOXE3 HLA-DPA1 HERC2 SLC46A1 LRRC8A IER3IP1 TRAF3IP2 HPS6 FLNA TRIP4 FMO3 DPF2 GFI1 IRAK4 DNAAF2 NOTCH2 SFTPA2 PCNT CRLF1 DNAH5 NFKB1 PANK2 GAS2L2 GTF2I CD247 SLC25A22 WDR34 SLC35A1 TK2 IFNGR1 CRKL NPM1 COL6A2 RNF168 CDCA7 PRPS1 EHMT1 ERF NHLRC1 TBX6 MUC5B VPS13A RFX5 HYDIN FCGR3A RELB ADAMTS3 SCN9A TTC12 SH2D1A PGM3 MKRN3 NOS1 ERCC2 SDCCAG8 IFIH1 TBC1D24 CHD7 GATA2 POLE TERC TAP2 WASHC5 RANBP2 MYL2 TRAIP CCDC22 SNORD116-1 ALOX12B STING1 TRPS1 SGCG PARN CHAT TBL2 CTCF CACNA1B UBB PIK3CD MASP2 IL6ST DRC1 TBCD TCF3 TNFSF12 CSPP1 KIF20A NHP2 PYROXD1 CASP8 SPINK5 CD55 SIK1 CLEC7A MAP3K20 KPTN FAT4 DKC1 KDM6A POLA1 TRIP11 KRAS HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION PLEC PLCG2 CFTR TAP1 TAPBP SLC35C1 SCNN1B SCNN1G SDCCAG8 CSF2RA SCNN1A TAP2 CSF2RB HP_ACUTE_INFECTIOUS_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_INFECTIOUS_PNEUMONIA SCNN1G CSF2RA CFTR SCNN1A CSF2RB SCNN1B HP_BRONCHIOLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHIOLITIS PLEC SDCCAG8 PLCG2 TAP1 TAPBP TAP2 SLC35C1 HP_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION_PNEUMONIA KMT2D CSPP1 GBA NHLRC1 TIMM8A CRLF1 SLC25A24 PANK2 AFF4 HLA-DQA1 SP110 EPM2A GRHL3 UBB NADK2 NFIX NOS1 TAF1 PMM2 KIAA0586 TBC1D24 KDM6A SAMD9 HLA-DQB1 PIGN HP_RETINAL_PERFORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PERFORATION CTNNB1 PRPH2 GUCY2D NDP HLA-A GUCA1A HP_SUBSTANTIA_NIGRA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSTANTIA_NIGRA_GLIOSIS MAPT ATXN3 LRRK2 GBA SNCA TBP ADH1C FBXO7 ATXN8OS SNCAIP NR4A2 GLUD2 ATXN2 PRKN HP_NON_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_OBSTRUCTIVE_AZOOSPERMIA TACR3 TAF4B NANOS1 FGF17 USP9Y TSPY1 TEX15 DAZ4 CHD7 RBMY1A1 GNRH1 DAZ1 FGFR1 SYCE1 MEIOB NR5A1 TEX11 XRCC2 DDX3Y PROK2 GNRHR FGF8 NSMF WDR11 KISS1 TAC3 CFTR TEX14 PROKR2 ANOS1 FANCM ZMYND15 HS6ST1 SYCP3 KISS1R DUSP6 DAZ2 TDRD9 SOHLH1 SPRY4 DAZ3 KLHL10 HP_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_AZOOSPERMIA TAF4B CFTR TEX14 TEX15 ADGRG2 FANCM ZMYND15 SYCP3 SYCE1 MEIOB TDRD9 NR5A1 TEX11 SOHLH1 XRCC2 NANOS1 KLHL10 HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION MT-TL1 SLC25A15 MT-ATP6 SLC25A13 MT-ND1 MT-ND3 SLC7A7 MT-TK OTC MT-TV MT-TW MT-ND5 MT-ND4 MT-ND6 MT-ND2 PCK1 CPS1 HP_FEEDING_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES GNB1 KMT2D SLC6A8 MICOS13 SYNJ1 LMAN2L NEB ELP1 IL17F KRAS KCNAB2 SLC13A5 ARID1B TSFM TCF4 RRAS2 UBE3B MOGS ATRX SLC1A2 CYP11B2 CHD7 SCN8A SH3BP2 GSC MTRR HCCS RNASEH2A PEX1 WWOX TPM2 GFPT1 NDUFS3 BPTF NCAPG2 ATP7A B9D1 MTHFS COLQ COL11A2 SDHB ORC6 HRAS SETBP1 ZC3H14 RAI1 HIBCH SLC35A2 MRPS16 SEMA3E CAMK2B DLD INPP5E GATAD2B PIEZO2 PDSS2 NKX2-1 TCTN2 MRAS PCCA CLDN16 PEX10 DHFR COL7A1 CACNA1B BCOR TRAPPC12 ACADVL SMARCB1 PAX8 BRAF NSMCE3 RAD21 SERAC1 OFD1 NALCN MBD5 PURA FLCN EXOSC9 ARL3 AQP2 PSAT1 VRK1 ARSA KDM1A KLHL7 PEX12 NDUFS6 TRAPPC9 TCTN1 NECTIN1 SLC18A3 WDR19 MED23 GMPPB MYO9A TRAPPC11 SSR4 UQCC3 OCRL ZSWIM6 ARL13B SRP54 NEXMIF ATAD3A HSD17B4 EEF1A2 MAGEL2 KCNB1 PMM2 CEP104 CLPB IFT80 UFD1 NDUFS8 SDHD NDUFAF3 DDC LIAS KIAA0586 SNORD115-1 TMEM126B PIGY RAC1 SH2B1 MECP2 SMARCD1 TRIO NTRK2 AGRN SNX10 RAB3GAP1 POU1F1 MTR CPT1A LHX4 LMBRD1 SLC9A6 DPF2 EP300 CLTC DGUOK ARMC9 ANKRD11 DEAF1 CTBP1 ITPA SIN3A SNRPN PHF6 ERCC2 COMT PEX26 NFIX PLAA EFTUD2 FRRS1L DCHS1 UBA5 NDUFS2 SOX5 NDUFV1 PEX5 PCGF2 KDM5B GTPBP3 DMPK HIRA CEP41 MRPS34 TBCK RETREG1 CARS2 TGFBR2 PGAP1 STT3A MRPL3 WFS1 CREBBP OTUD6B MN1 MAN1B1 UGP2 COL6A1 SLC25A1 PARS2 HBB IQSEC1 SOS1 TPM3 RERE RRM2B PEX2 KCNK9 ATXN7 PPP2R1A CHAMP1 FOXP3 VPS13B PACS1 BCS1L TALDO1 RAF1 PRDX1 MYH3 PEX13 SMARCE1 HECW2 NDUFB3 PWRN1 PBX1 RYR1 USP7 KMT2A ARX BRAT1 PIGN FGF12 PIBF1 RIT1 ARID2 SLC7A7 CAVIN1 CRBN HIVEP2 FAT4 DLX4 GRHL3 BCL11B KCNA2 DNM1L CDC6 POLR3A HDAC8 MTO1 NDUFS7 HSPD1 TUBB6 SCNN1B PDE6D ASAH1 AIFM1 DNM1 ASNS COL13A1 DHCR7 KLHL41 KMT2E BCKDHB ACTA1 CHRNA1 SCN3A IL17RC NDUFB8 SLC1A4 STRADA TCTN3 PEX16 A2ML1 LYRM4 POLA1 UBTF RPS6KA3 SCN4A MT-ND3 PDE10A PHOX2B AVPR2 ISCA1 LAMA3 SPATA5 B3GLCT TUBB3 PRDM16 ERCC1 MEF2C PUF60 WASF1 GMNN TSHR GALC TXNL4A PSAP HESX1 COG4 RREB1 CHRNE SCNN1A SLC45A1 SELENON LAGE3 COQ2 HNF1B STT3B NACC1 RFT1 LHX3 TMCO1 VAMP1 ALG12 HTRA2 PEX19 NDUFS1 PIGP POMK NFASC ANTXR2 UBE3A MAP3K7 KIF5A CLCF1 MED17 GDNF PSMD12 ACADL NHLRC2 TRMU HADHA MMACHC MBTPS2 FCSK ERCC5 CYP11A1 LIFR POLE ATP6V0A2 FLAD1 ASCL1 CYFIP2 NDUFS4 AP1S2 HS6ST2 BCKDHA LRP5 MKS1 C12orf4 TLK2 GP1BB REV3L NONO ACTG1 GRIN2D MYH7 EPRS1 MIPEP DLG1 TNIK CRLF1 TET3 MMUT PLCB4 PEX11B HLCS ADAT3 CDK8 ERCC6 SMC3 SLC25A22 MAP2K2 FMN2 KIF15 GNPTAB WDR26 ZNHIT3 COL6A2 NDUFA6 CDK13 UQCRFS1 TMEM106B HOXB1 PIGV PIGO SMC1A RLIM PIGL ACSF3 PRKD1 TMEM67 NDUFA1 TBX1 TBC1D24 NDUFA11 HPCA FLII SETD5 HIKESHI MYL2 LZTR1 CCDC22 B3GALNT2 NDST1 SNORD116-1 PRPS1 POGZ PPP2CA OPA1 CHAT ALDH6A1 ASXL2 CDT1 NR3C2 CTCF UBB PIGW WDR34 GABRD TBCD FOXRED1 TRAPPC4 CHRNB1 PEX6 SMARCA4 GALT NDUFB9 ATP6V1E1 CSPP1 RET GABRA5 SLC25A19 AHI1 SCNN1G RRAS C12orf65 NDUFB11 BUB1B TXN2 CYP11B1 COL1A1 IFIH1 TRHR HYLS1 SLC6A3 EXOSC8 MCCC2 SETD2 PIGG TGFB1 TBL1XR1 KDM6A IRF6 SLC16A2 NUBPL PPM1D GLE1 DYNC2LI1 CCDC47 SUCLA2 RPS28 FBN1 NARS2 AFF4 FOXG1 MT-ND2 COG7 CNKSR2 MED12 STAG1 DPM2 PWAR1 FGFR2 PCCB CPLX1 KRT14 FUT8 HSD3B2 CHRND LRP4 ALDH18A1 PNPT1 HADH MTM1 ALG11 DYRK1A UFM1 TRAK1 PPP3CA SOX11 KANSL1 NDUFAF8 NDUFV2 PRKCSH SLC5A7 PHGDH SHOC2 KIF1A TELO2 IFT172 IGF2 RARS2 SNIP1 SHANK3 GABRA2 SCO2 CLIP1 SRCAP MYMK ZC4H2 TSEN2 FLI1 LIPT2 UFC1 TIMMDC1 NDUFB10 FKRP ASL C2CD3 COL6A3 SNRPB UNC80 AP3D1 RPGRIP1L EMG1 ARVCF FBXO31 MED25 NDN MYH8 MBOAT7 IQSEC2 SKI LAMB3 HNRNPH2 DST NDUFAF4 CISD2 CPLANE1 EXT2 DHX30 KAT6A GLRX5 DHDDS FARS2 ASXL3 COQ9 EDN1 HNRNPK SOS2 SPTBN4 NAGS CACNA1A TMEM237 DLEC1 TTC21B PEX14 GPT2 SDHAF1 GABRG2 KCNQ2 MMAA SNAP25 MOCS2 BICD2 DHCR24 MCCC1 GABRB2 FOXP1 GCDH NDUFAF5 FOXE1 NECAP1 MTOR SZT2 CASR SLC25A15 JMJD1C ST3GAL5 TCF20 AARS1 CEP120 WNK1 SUCLG1 PRSS12 CNTN1 AUTS2 LAMC2 SYT1 EPM2A YWHAG TRRAP RAB11B RSRC1 ASH1L ITCH ST3GAL3 LMNA EPG5 EHMT1 SOX4 PTS ELN SON ASPA SLC25A24 SMPD1 NDUFAF2 GATA6 RNF6 ARID1A CSNK2A1 RAB3GAP2 CPT2 IL17RA CDC45 NSD1 TUSC3 CDH1 CFL2 AIMP1 SATB2 PIGS GPHN CLCN4 AHDC1 USP9X EDC3 NKX2-5 SEC24C PYCR2 HCN1 SYT2 HADHB LAMB2 PRMT7 TRMT10C SYNGAP1 PGAP2 SMARCC2 SLC26A4 GBA SLC46A1 KAT6B CRADD SEC63 ACTL6B MT-TE TREX1 LINS1 TOP3A SURF1 LHX1 COX7B ATP6V1A NIPBL DBT LMOD3 CASK YY1 HSPG2 WDR60 NPHP1 WARS2 ZNF148 SIK1 ADNP IFT140 NPAP1 GRIN1 CC2D2A HTT TP53RK LAMA2 AGTPBP1 LINGO1 MDH2 RHBDF2 AIMP2 FARSB ASXL1 DCPS KIAA0556 ANK1 COQ7 MLXIPL RNASEH1 PIGC GNAI3 TRAF7 UGDH APC2 ORC1 DCX SARS1 NRAS PMPCB BIN1 PREPL MAP2K1 EXOSC3 CC2D1A WAC MT-ND1 CBL HACD1 DPYS TP63 MOCS1 ITGA7 PNPO FOXP2 HERC2 IER3IP1 SLC52A1 AP3B2 TRAF3IP2 EZR RMND1 STXBP1 TRIP4 NUS1 SAMHD1 ARHGAP29 TANGO2 NSUN2 PANK2 DYNC2H1 PEX3 CCDC88A PROP1 FAM149B1 PLXND1 ACADS SDHA EIF4A3 GRIK2 DEGS1 FLNA TRPV6 TSHB NUP214 PIGT RAPSN MMAB SLC16A1 RASA2 KBTBD13 TK2 PSPH COG5 NRXN1 POLG2 PTCH1 INHBA KIF7 EZH2 STAC3 IBA57 NHLRC1 KIAA0753 TSEN54 MYPN VPS13A ARV1 TSPYL1 PQBP1 POMT2 GRIA4 ORC4 MKRN3 BRPF1 EDN3 ARCN1 SCYL2 CLTCL1 ABCD4 MPDU1 WASHC5 KRT5 TH PTPN11 GOT2 NDUFAF1 MARS2 GFM1 HNMT KLHL40 METTL23 WASHC4 TMEM216 SUZ12 CA12 BMP4 MSX1 SCN9A GMPPA CWC27 SARS2 TECR IDUA POMT1 CLEC7A BTD MAP3K20 PLA2G6 PGAP3 MAMLD1 NFU1 ACTB EED WDR73 LARGE1 HP_CEREBRAL_AMYLOID_ANGIOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_AMYLOID_ANGIOPATHY APOE CST3 ITM2B APP PSEN2 HP_HYPOGLYCORRHACHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCORRHACHIA SLC2A1 TLR3 TBK1 TRAF3 TICAM1 UNC93B1 HP_MYELOFIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOFIBROSIS JAK2 SH2B3 GFI1B TET2 NBEAL2 MPL CALR TBXAS1 TP53 MPIG6B SRC HP_ACHOLIC_STOOLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHOLIC_STOOLS RFX6 PTPN3 HSD3B7 GPC1 CYP7B1 HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY RAC2 NCF2 GPI CYBB CEBPE CYBA NCF1 SLC35C1 PMM2 HP_ABNORMAL_NEUTROPHIL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEUTROPHIL_COUNT RFXANK SMARCAL1 CD79A SEC61A1 MMUT ATRX FANCD2 MPLKIP TICAM1 FANCE SLC46A1 SBDS G6PC3 ELANE BLNK WIPF1 PIK3R1 MMAA SRP54 MVK LMBRD1 STAT5B PRKAR1A TONSL STAT1 CASP10 JAGN1 MECOM LAMTOR2 MMAB GSS SLC35A1 RAC2 TERT NABP1 PCCB GATA2 IGHM RASGRP1 IFNG RAG1 ETV6 TDP2 CIITA TET2 SLC37A4 COG4 GFI1 GTF2H5 PML WAS FUT8 ERCC3 MTRR DNAJC21 RAB27A PRF1 STAT3 RPS17 LRBA RFX5 MAD2L2 PACS2 VPS13B CD40LG HAX1 SMARCD2 TBL1XR1 LBR PGM3 ERCC2 BCOR STK4 ITCH CD79B HBB IGLL1 ABCD4 GTF2E2 TCN2 RNF113A ICOS NRAS HTRA2 UNC93B1 IRF2BP2 SAMD9L FANCC TCIRG1 TBK1 IL7R RFXAP MSN WDR1 RMRP TARS1 FANCG GINS1 MT-TW ZBTB16 MYSM1 PCCA FBXL4 RPS7 OTULIN FOXP3 TAZ RPL18 FASLG STX11 AGA PRDX1 AP3D1 CXCR4 FAS SF3B1 TERC CD40 MMACHC NUMA1 RECQL4 RARA TCF3 TFRC FANCI UBE2A LYST FANCA TFR2 SLC35C1 FIBP TLR3 TRAF3 FIP1L1 EIF2AK3 BTK PNP LRRC8A GATA1 RPL11 CSF3R VPS45 NPM1 PRKCD RPS19 USB1 CLPB EFL1 RPL26 FMO3 AP3B1 IRAK4 FDX2 KRAS HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY RPS14 SMARCD2 MYH9 LBR CEBPE CXCR4 TET2 SF3B1 FTCD HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY NCF2 GPI CYBB CEBPE CYBA RAC2 NCF1 HP_POSTPRANDIAL_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTPRANDIAL_HYPERGLYCEMIA INSR SCN4A KCNJ18 SHPK GYS2 KCNE3 CACNA1S GABRA3 HP_PARANOIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARANOIA TBP DGCR8 PLA2G6 PRDM8 ESS2 ECM1 DGCR2 TIMM8A SNCA CPOX DMPK DGCR6 IMPA1 TBX1 HP_LENS_LUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_LUXATION MOCS1 PAX2 COL11A1 C12orf57 MOCS2 HP_RIGHT_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_AORTIC_ARCH DNAH1 DGCR8 TBX1 ESS2 ACVR2B WDR26 DGCR2 GDF1 STRA6 TMEM260 MMP21 DGCR6 CRELD1 FLT4 HP_HEPATOCELLULAR_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_ADENOMA BLK PHKA2 PRKAR1A HNF1A GCK APPL1 ABCC8 CEL PDX1 PHKG2 NEUROD1 HNF4A PAX4 KCNJ11 INS KLF11 HP_ABNORMAL_URINE_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_HORMONE_LEVEL CDKN2B NR3C1 PRKAR1A TP53 CDKN2C CDKN1B CDKN1A MEN1 HP_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOMA CCL2 MSTO1 TBXT RPL10 VANGL1 AKT1 PIK3CA SDHC KLLN APC TAF1 FUZ PTEN CDC73 SDHB ZSWIM6 VANGL2 SEC23B ALX3 USF3 FGFR1 SDHD HP_CORNEAL_STROMAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_STROMAL_EDEMA ZEB1 COL8A2 GRHL2 VSX1 OVOL2 HP_DECREASED_FERTILITY_IN_MALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_MALES PPP2R3C FANCE PTPN11 CYP19A1 CATSPER2 AMHR2 SPEF2 FANCG FANCM ERCC4 DAZ4 POR RBMY1A1 MAD2L2 SLX4 DAZ1 NR5A1 GCM2 FANCC FANCL RFWD3 PMFBP1 SRY LHCGR MAP2K1 SUN5 STRC MAP3K1 FANCI CATSPER1 ZFPM2 FANCD2 WWOX BRIP1 NR0B1 TTC29 FCGR2A FANCA DMRT3 VAMP7 DAZ3 CYP17A1 DNAI1 CDH23 TGFB1 AIP HSD3B2 AMH USP9Y TSPY1 AURKC DNAAF5 XRCC2 ADGRG2 DHX37 ARMC2 CTNS CYB5A RAD51C DDX3Y BRCA2 GATA4 UBE2T SPATA16 FANCF CYP11B1 SOX9 CFTR BRAF DNAI2 WT1 PALB2 DAZ2 TEX11 BRCA1 FANCB MEN1 RAD51 HP_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENDULAR_NYSTAGMUS RPGR CNGB3 FRMD7 TMEM231 PDE6H OPN1SW HMGB3 NUP62 ADAR GNAT2 OPN1MW CRX AIPL1 TENM3 MT-ATP6 CNGA3 PDE6C OPN1LW DNMBP ATF6 RPGRIP1 P4HTM CRB1 ATOH7 TBL1XR1 LRP5 CLTCL1 NT5C2 HP_RETINAL_FLECKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FLECKS PROM1 RIMS1 RDH5 BEST1 RHO PRPH2 ZFYVE26 RLBP1 HP_HEMERALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMERALOPIA ATXN7 GUCY2D SAG CNGA3 NYX GRM6 NR2E3 HP_OROMANDIBULAR_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMANDIBULAR_DYSTONIA KMT2B COASY SLC39A14 ANO3 C19orf12 COL6A3 TIMM8A PANK2 THAP1 ATN1 HP_LARYNGEAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_DYSTONIA KMT2B FTL THAP1 GNAL GNAS TUBB4A COL6A3 KCTD17 STX16 PRKRA HP_LOW_SERUM_CALCITRIOL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SERUM_CALCITRIOL LRP5 DMP1 ENPP1 CYP2R1 CYP27B1 HP_CUTANEOUS_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_MELANOMA MC1R NRAS ERCC3 XPC BAP1 CDKN2A MITF CDK4 CXCR4 POLH WRN BRAF HRAS HP_BONE_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_CYST TYROBP TREM2 AKT1 VDR PIK3CA BSCL2 SH3BP2 SDHC PDGFRB KRAS HLA-DRB1 KLLN FGFR1 NOTCH3 FOS ZBTB20 SDHB BTNL2 AGPAT2 CAV1 SEC23B PPARG CAVIN1 USF3 PTEN SDHD HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION TANGO2 SLC25A20 ACAD8 ACAD9 SLC52A1 HADH HP_PERSONALITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_DISORDER MAPK10 TOR1A KCNT1 CBS KCTD17 DNM1 CHD2 SPG21 GABRB3 XK CUX2 SCN1A SGCE DRD2 HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE TRIM32 MSTO1 SGCB CRYAB KLHL41 BSCL2 POLG TRIP4 TCAP ACTA1 ANO5 HNRNPA1 COL6A1 STIM1 NEB COL6A3 RYR1 FHL1 ORAI1 DNAJB6 POMT1 COL6A2 TTN CAV1 KBTBD13 MYH14 VCP TPM3 TPM2 LRP12 COL12A1 CFL2 SQSTM1 SELENON DPM3 MYH7 LMOD3 ASCC1 NEFH CAV3 TWNK SGCG MYPN FOS OPA1 STAC3 PPARG DYSF LMNA AGPAT2 CASQ1 MICU1 CCDC174 GNE MYOT CAVIN1 ITGA7 HNRNPA2B1 AIFM1 HP_ABNORMAL_PANCREAS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_MORPHOLOGY CASR PRSS1 PKHD1 BICC1 PDX1 ABCC8 KCNAB2 SPINK1 GANAB KLF11 SETBP1 OFD1 KCNJ11 CEP55 B9D2 LHX1 GCK WDPCP PRSS2 VHL HNF4A CPA1 STAT3 PRDM16 PTF1A MYCN GLIS3 CC2D2A NEUROD1 PKD2 DIS3L2 BLK CTRC TELO2 HNF1B RARB NPHP3 PKD1 TMEM216 INS CSPP1 XPNPEP3 TCTN2 RPGRIP1 APPL1 CCND1 RERE ASXL1 FLI1 PTRH2 PAX4 DZIP1L WDR19 GATA6 KCNQ1OT1 SIK3 FOXF1 HNF1A RBM8A STRA6 CEP290 CEL NEK1 RFX6 GABRD WDR60 CDKN1C B9D1 CFTR SKI MKS1 TMEM67 TMEM231 KCNQ1 EIF2AK3 RPGRIP1L IGF2 SLC29A3 TMEM107 PRPS1 FLNB RECQL4 EFL1 HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY CDC73 CASR PRSS1 BCKDHB PDX1 IFT172 ABCC8 SLC25A13 SPINK1 EIF2AK3 KLF11 KCNJ11 GPC3 MEFV MT-TF IL12A-AS1 NADK2 CTLA4 PCCB APOE GPR35 DBT PRSS2 HNF4A CPA1 STAT3 CDKN1B HAMP INSR AP2S1 CAV1 CLCA4 ABCB4 CCR1 MT-ND1 MT-ND4 DCTN4 KLRC4 BLK HNF1B ATP8B1 CFTR PALLD HLA-B TCF4 MT-TQ CDKN2A MMUT SLC7A7 INS MEN1 SLC37A4 CEL XPNPEP3 BSCL2 PCCA PALB2 LMNA GPC4 KRAS MT-CO3 SMAD4 C4A IKZF1 UBAC2 FCGR2A MST1 PNPLA2 GCK APOC2 TGFB1 NSMCE2 MT-TS2 UBR1 FOS OFD1 SLC16A1 HFE BCKDHA HLA-DPB1 PPARG HLA-DPA1 SRP54 AGPAT2 CDKN1A TLR4 EFL1 ARX SBDS CAVIN1 CDKN2C MT-TH FAS LBR JAG1 IL12A FAH HNF1A FLI1 PAX4 DIS3L2 HJV IL10 STAT4 ZFP57 IL23R G6PC DNAJC21 ERAP1 NDUFS3 COX4I2 NEUROD1 UCP2 BRCA1 TP53 PUF60 GNA11 TKFC MT-CO1 CTRC PTPN22 MT-TW MT-ND5 PRTN3 STX1A LPL MT-ND6 APPL1 BRCA2 CIDEC HMGCL GATA6 PLAGL1 MAFA MT-CO2 STUB1 CBS ACTG2 CTNS HYMAI CDKN2B MT-TL1 HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY CEL JAG1 APPL1 PRSS1 BRCA2 PDX1 PALB2 PAX4 KCNJ11 SPINK1 GATA6 KRAS SRP54 KLF11 SMAD4 HNF1A FCGR2A HNF4A PRSS2 DNAJC21 TGFB1 CLCA4 COX4I2 UBR1 NEUROD1 CTNS OFD1 HFE BRCA1 EIF2AK3 TP53 DCTN4 PUF60 BLK HNF1B GCK CFTR ABCC8 PALLD SBDS CDKN2A EFL1 ARX INS CTRC STX1A HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY HAMP ZFP57 PDX1 INSR ABCC8 MEN1 FAH GPC4 SLC16A1 UCP2 HNF1A EIF2AK3 KCNJ11 HNF4A HYMAI PAX4 PLAGL1 GPC3 MAFA DIS3L2 INS HNF1B CDKN1B CDKN1A HJV CDKN2B GCK CDKN2C STAT3 LBR HP_ABNORMAL_PANCREAS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_SIZE PTF1A GLIS3 APPL1 PDX1 ABCC8 NEUROD1 KCNQ1 PAX4 EIF2AK3 KCNJ11 GATA6 KCNQ1OT1 KLF11 IGF2 SLC29A3 BLK HNF1A INS HNF1B GCK RARB STRA6 CEL LHX1 RFX6 HNF4A CDKN1C STAT3 HP_ABNORMAL_CIRCULATING_CREATININE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CREATININE_LEVEL WDR19 STOX1 HBB BICC1 ELP1 DBH TMEM260 FAN1 CD46 PKD2 C3 COQ7 GANAB INVS FLT1 NT5E CFB MUC1 AVPR2 CFH ADAMTS13 HPRT1 CCND1 CORIN HNF1B CFHR1 PKD1 CFI THBD CFHR3 HP_ABNORMALITY_OF_THE_MITOCHONDRION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MITOCHONDRION MICOS13 NDUFS1 NDUFAF6 LIPT1 NDUFAF5 CHCHD10 SUCLA2 MT-CYB SLC22A5 TSFM MT-ND2 POLG MT-TE NDUFS8 MT-TF NEB NADK2 ECHS1 NDUFA13 MT-ND3 NDUFS7 RRM2B BOLA3 TK2 MRPS14 FUS TYMP GFER PDP1 HADH PNPT1 MT-CO1 MT-CO3 MT-ND1 MT-ND4 ATPAF2 NDUFS3 AUH PET100 NDUFAF8 NDUFV2 NDUFAF2 HIBCH SLC39A8 HSD17B10 MT-TQ NDUFS2 AGK NDUFB11 HTRA2 TIMMDC1 NDUFB10 HMGCL TAZ TMEM70 AFG3L2 TIMM50 ACADL TRMU SERAC1 MYH14 SLC25A20 SDHAF1 SQSTM1 ATP5F1D NDUFS6 FOXRED1 NDUFV1 MYH7 GTPBP3 POLG2 MT-TS2 NDUFS4 NDUFAF4 AK2 ISCU ETFA SDHA EARS2 GLRX5 ATAD3A MT-ND5 CLPB HADHA MT-TH NDUFAF3 TMEM126B SLC19A3 C9orf72 TARDBP TTN TACO1 TWNK GNE ETFB NDUFA12 MT-TN TBK1 DGUOK SPG7 TXN2 NDUFA6 SURF1 DNMT1 MT-ATP6 MT-TL2 IBA57 TRMT5 PEX5 PDHX CARS2 MT-TL1 DNAJC19 SLC3A1 CYBA MT-TW OPA3 NDUFA1 PREPL GYG1 PDHA1 ACADM NDUFA11 MT-ND6 SDHD ETFDH COX15 MT-ND4L NDUFAF1 FBXL4 SLC25A3 NDUFA10 ACAD8 DLD ACADVL CPT2 MTFMT NDUFB3 KCNJ10 VCP CYBB NDUFA2 ATP5F1E NDUFB9 MT-CO2 DNA2 ACAD9 FXN NDUFA4 SLC25A26 PPM1B CTNS MGME1 NDUFA9 DLAT SLC25A4 NFU1 CAMKMT NUBPL HP_INCREASED_FIBULAR_DIAMETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_FIBULAR_DIAMETER SLC35D1 INPPL1 GPC6 SHH LMBR1 HP_OPEN_ANGLE_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_ANGLE_GLAUCOMA NTF4 WDR36 CYP1B1 OPTN ASB10 MYOC HP_HYPOPLASIA_OF_THE_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PONS SNX14 BRF1 STUB1 EPG5 ADGRG1 ROBO3 ASNS TRAPPC12 GPHN TSEN54 B3GALNT2 ATXN2 ARHGEF2 POMT2 RTTN DOCK7 LARGE1 POMGNT1 AHCY PPP2R1A TOE1 ZIC1 PCLO ATXN8OS RELN MAB21L1 WNT1 FKRP POMT1 PMM2 GMPPB VRK1 POGZ RERE TUBB2B POMK UBE2A HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL STAR MRAP BAP1 POR TERT SMO GLI3 CYP11A1 RET KCNJ11 NR3C1 PRKAR1A TBX19 MC2R ABCC8 CDKN1B NFKB2 AIRE CYP17A1 PRKACA HSD3B2 PDE8B PDE11A TXNRD2 PDGFB GNAS PIK3CA MEN1 AAAS SMARCE1 CYB5A NNT TRAF7 HTR1A SMARCB1 TP53 CYP11B1 SUFU CDKN1A HSD11B2 AKT1 NR0B1 CDKN2B CDKN2C NF2 PCSK1 HP_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATITIS SERPINA1 RFXANK RFXAP SPIB HSD3B7 CD3D MET TP53 PGM1 IL17F IL17RC BLNK CD79A CD247 STAT1 IL21R FOXP3 IL12RB1 KRT8 FASLG ATP7B IGF2R CYP7A1 CD3E TBX19 BTK ALMS1 CASP10 C1S GUSB XIAP FAS IL17RA PIK3CA IGHM RASGRP1 MMEL1 TTC7A TCF3 CIITA GPR35 PIK3R1 MST1 AIRE SLC25A15 TPP2 GLIS3 IRF5 POU2AF1 C4B VPS33B CYP7B1 SKIV2L PIEZO1 RFX5 TNPO3 CD40LG CASP8 ATP7A SH2D1A VIPAS39 LRRC8A CTNNB1 PDGFRL CLEC7A SHPK TNFSF15 AXIN1 APC PRKCD TCF4 AMACR TRAF3IP2 COG8 ITCH CD79B IGLL1 KRT18 IL12A COG6 HP_ABNORMAL_ALBUMIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ALBUMIN_LEVEL VPS33A MYO1E TTC37 SPIB PRF1 FARSB WDR4 COQ8B PDSS2 PLVAP SGPL1 SLC25A13 BMPR1A AHCY MAGI2 MPI NUP107 SAR1B FOXP3 IL12RB1 ALB DGUOK DGAT1 B2M IFNGR1 NPHS1 TDP1 MMEL1 GPR35 MST1 PTEN ARHGDIA APTX NPHS2 PLCE1 IRF5 POU2AF1 ITGA3 CCBE1 TFAM PTPRO MMP1 NUP133 TNPO3 CD55 TKFC COQ2 ALG8 PIK3R5 SMAD4 TNFSF15 ACTN4 TCF4 PMM2 FN1 COL7A1 WDR73 IL12A SETX TET2 OSGEP HP_METHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDURIA MCEE SUCLA2 TCN2 PRDX1 MMAB CD320 MMADHC SUCLG1 MMACHC MMAA MMUT LMBRD1 ABCD4 HCFC1 ACSF3 HP_ANTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_UVEITIS STAT4 STUB1 HLA-DRB1 PTPN22 IL2RA LACC1 NOD2 CD247 PTPN2 ANKRD55 HLA-B IL6 TNFAIP3 MIF IL2RB HP_POSTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_UVEITIS MALT1 BCL10 BIRC3 FOXP1 NOD2 HP_STOMACH_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMACH_CANCER FGFR2 IRF1 SEMA4A IL1RN CEP57 CHEK2 IL1B STK11 APC MSH3 BMPR1A MUTYH PRKAR1A BUB3 PIK3CA TRIP13 CASP10 ERBB2 KLF6 RPS20 BUB1 BUB1B KRAS CDH1 HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS CDAN1 KLF1 GLRX5 SF3B1 C15orf41 RPS14 ERBB3 G6PC3 RPS17 CBLIF RPL35 RPL35A TP53 TET2 HBB RPS15A PUS1 HP_ERYTHROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPERPLASIA ERBB3 CBLIF CDAN1 KLF1 GLRX5 HBB TET2 SF3B1 C15orf41 PUS1 HP_ERYTHROID_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPOPLASIA RPS14 G6PC3 RPS17 RPL35 RPL35A TET2 RPS15A HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY RARA GATA1 CXCR4 TET2 NUMA1 SF3B1 HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY SH2B3 GP9 GNA14 MPL JAK2 RPS14 MYSM1 CALR GP1BB TET2 SLC35A1 SF3B1 TP53 GATA1 HOXA11 RFWD3 GP1BA HP_ABNORMAL_MONOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MONOCYTE_MORPHOLOGY G6PC3 ELANE GATA2 TCIRG1 WAS SRP54 GFI1 NRAS DDX41 KRAS HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR GP1BB GP9 ITGB3 F8 VWF ITGA2B NBEAL2 GP1BA HP_HYPOTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTRIGLYCERIDEMIA ANGPTL3 APOC3 CETP NGLY1 SAR1B HP_HEMOPHAGOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPHAGOCYTOSIS CD27 HAVCR2 UNC13D STX11 SLC7A7 RAB27A STXBP2 PRF1 XIAP HP_SUBCORTICAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_CEREBRAL_ATROPHY EHMT1 PANK2 KRAS FGFR1 PDZD7 MAN2B1 MYO7A CIB2 MYO5A USH2A CDH23 HNF1B TCTN3 SHPK PCDH15 USH1C MBTPS2 USH1G ADGRV1 LHX1 ACTG1 POGZ ACTB ESPN WHRN HP_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODACTYLY SETD5 TP63 SF3B4 SEMA3E DLX5 GLI3 CHD7 BHLHA9 NIPBL WNT10B SMOC1 DLL4 CYP26B1 EPS15L1 WNT7A BTRC RECQL4 LRP4 DLX6 RAD21 HOXD13 SMC1A MBTPS2 ESCO2 HDAC8 APC PORCN SMC3 KMT2A DONSON SEM1 HP_STEREOTYPICAL_HAND_WRINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPICAL_HAND_WRINGING DYRK1A GRIN2A LARP7 IQSEC2 MECP2 CDKL5 NACC1 VAMP2 HP_GLIOBLASTOMA_MULTIFORME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOBLASTOMA_MULTIFORME SEMA4A MSH6 KRAS PMS1 ERBB2 PIK3CA PMS2 IDH1 RPS20 BRCA2 MLH3 FAN1 MSH2 APC TP53 TGFBR2 MLH1 BMPR1A EPCAM HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY SP110 RAG1 GATA2 IL2RG RAG2 DNMT3B JAK3 PGM3 HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY UNC13D SH2D1A STXBP2 XIAP WIPF1 HP_ENTRAPMENT_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTRAPMENT_NEUROPATHY IDUA GSN GNPTAB TTR GNAS SH3TC2 ARSB HP_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HODGKIN_LYMPHOMA POLE AAGAB ATM RNF43 KLHDC8B COL14A1 CASP10 FAS PRKCD TCF4 RASGRP1 DKC1 FASLG HP_T_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_T_CELL_LYMPHOMA POLE NBN CD28 CASP10 FAS PRKCD TNFRSF1B RASGRP1 CTLA4 FASLG HP_B_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_CELL_LYMPHOMA NBN CASP10 ATM FAS BIRC3 FOXP1 PRKCD PIK3R1 RASGRP1 MALT1 ADA CCND1 BCL10 FASLG HP_INSULINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULINOMA MEN1 CDKN2B CDKN2C CDKN1B CDKN1A HP_ABNORMALITY_OF_PROTHROMBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PROTHROMBIN GFI1B F2 COG8 PRF1 F10 ACAD9 GPC1 LMAN1 HADH GNE HMGCL F7 CFH GGCX AHCY NR1H4 CD46 NGLY1 VKORC1 ZMPSTE24 AGA HELLPAR SLC25A13 TCF4 F5 LMNA PMM2 EFL1 SLC30A10 MCFD2 GPR35 MST1 CFI HP_ONYCHOMYCOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOMYCOSIS CDH23 DOCK8 IRF5 SPIB CARD9 POU2AF1 CLEC7A TNFSF15 SDR9C7 MMEL1 USP8 IL12A IL17RC TNPO3 IL12RB1 TRAF3IP2 HP_ABNORMAL_SPERM_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_MOTILITY CFAP69 DNAJB13 RSPH1 RSPH9 SPEF2 CCDC40 SPAG1 BICC1 FOXJ1 MCIDAS ZMYND10 CATSPER2 GANAB GAS2L2 DNAH1 CCDC151 SUN5 STRC CCDC39 ARMC4 CFAP410 DNAL1 CATSPER1 TTC25 DNAAF2 DNAI2 DRC1 TTC29 NEK10 CFAP221 GBA2 RSPH3 LRRC6 DNAAF1 CFAP298 DNAAF5 CCNO RPGR STK36 PMFBP1 DNAH9 BRDT HYDIN DNAAF6 OFD1 RSPH4A ARMC2 PKD2 DNAH5 CCDC114 CCDC103 LRRC56 DNAAF4 NME8 GAS8 TTC12 HNF1B CCDC65 PKD1 DNAAF3 CFAP300 DNAH11 DNAI1 HP_IMMOTILE_SPERM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMOTILE_SPERM GAS2L2 STRC RSPH9 CATSPER2 CATSPER1 DNAAF5 HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA NF1 KRAS ARHGAP26 NRAS PTPN11 CBL HP_ABNORMAL_RENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MORPHOLOGY GNB1 PROKR2 KMT2D SMARCAL1 GLI3 SLC34A1 SDCCAG8 KCNJ1 MICOS13 HAAO INSR ELP1 TSC2 AMMECR1 LRP4 KCNAB2 POMT1 FAN1 B4GAT1 ARID1B PTEN STK11 CLCN5 SOX9 NF1 GPC3 MEFV OSTM1 STIL CASP10 CTLA4 CC2D2A BRIP1 INSL3 HOGA1 ATRX MYLK GATA3 MED25 DYNC2LI1 SLC9A3R1 TTC37 SALL4 CHD7 GNA11 MTRR KRT17 PEX1 SF3B4 GLA WDR35 REN CCR1 CEP41 MT-ND4 MSH3 NCAPG2 STX3 ANOS1 TRIM32 GRHPR ALG8 MT-TK MOCOS NPHS1 INS CDK6 SETBP1 RAI1 SLC35A2 SLC37A4 TFAP2A FGFR3 PTCH1 SEMA3E PIGQ XRCC4 CHST14 RPGRIP1 CEP120 XDH BSCL2 PIEZO2 BCOR LMNB2 PDSS2 IFT43 KCNH1 GALNT3 SLX4 CLDN16 PEX10 ESCO2 WT1 DVL1 NUP93 GCM2 BRAF BBS4 NRAS ABCG8 RAD21 C4A BUB3 MNX1 CEP290 GREB1L LRP5 FLCN INF2 AKT3 SCARB2 FANCA DSTYK RET WFS1 PEX12 DSE FANCI FGFR1 NPHS2 BRF1 RAB23 RAB18 GEMIN4 FOXF1 FLRT3 SLC25A11 EVC2 SI XRCC2 TBC1D20 KISS1R TMEM67 WDR19 WNT4 OFD1 FAM20A NTNG1 NUP133 PHC1 FGF8 CRTAP OCRL LZTFL1 PIK3R2 WNT5A AGPAT2 HSD17B4 NPHP1 LTBP4 PMM2 GTF2IRD1 MT-ND5 IFT80 UFD1 FANCB TDGF1 FAS GPKOW SLC22A12 PIGY SDHD SEC61A1 CEP57 LPIN2 FANCM FANCE LDLR WIPF1 DLST GPC4 GANAB PKHD1 FGFR2 DCC ATP7B MUC1 HPSE2 POU3F4 DIS3L2 FREM1 COL4A3 KIF14 EXTL3 DEAF1 CLIP2 COMT POR DCDC2 SFTPC WDPCP SLC4A1 HESX1 PIGP WAS GLIS3 IL23R FANCL SIX1 CFH NCAPD3 ERAP1 MAFB DCHS1 ITGA3 SMAD4 PEX5 USP8 BICC1 CFHR5 HIRA DKC1 TBCK PCK1 AKT1 SRY GNAO1 TMEM107 PLG PKD1 PREPL WDR34 CHRM3 CYP24A1 MDH2 MT-ND6 TBC1D24 DNMT3A HLA-B MT-CYB C8orf37 WNT3 MKS1 TTC8 PEX2 MT-TL1 MAD2L2 SLC6A20 PAX4 IQCB1 PPP2R1A FOXP3 APC BCS1L PRKCD NODAL HNF1A DYNC2H1 KCNA1 MT-ND3 ARL3 PEX13 SMARCE1 ALPL CEP164 NEK1 SLC12A1 STRA6 MEOX1 CLDN19 PBX1 KCNJ10 CDKN1C KMT2A COL4A1 RFWD3 RPS26 PIGN PIGT COL5A2 TTC21B ACTG2 AGXT NDUFAF3 LAMB2 CILK1 BBS10 ARID2 SLC7A7 KCNQ1 FAT4 EYA1 TAPT1 GCK DLL1 C3 ERBB3 KIF1B ACTN4 IFT122 HDAC8 PALB2 THOC6 PDE6D CAMKMT DHCR7 RAB3GAP1 ACSL4 TREX1 RTTN VHL SC5D SDHB STXBP1 IFT172 NDUFB8 STRADA TCTN3 PEX16 NPHP3 MKKS FKRP MCPH1 NEK8 SMARCD1 MT-TF ALMS1 C1QA CDK5RAP2 KRAS TRPC6 PIGL ATP6V0A4 APOE CPLANE1 RNU4ATAC AMER1 ZIC3 B3GLCT SALL1 PRDM16 MRPS22 AP2S1 BBS5 SLC7A9 PUF60 ITGB4 COLEC11 PRKCSH MT-ND1 TXNL4A APRT GDNF HS6ST1 MBTPS2 RREB1 IFT140 TMEM237 MT-TE LAGE3 COQ2 HNF1B PAH WASHC5 SCN2A TMEM216 MMUT LRIG2 PEX19 CFTR ALG9 FANCC NXN SLC6A19 LMOD1 NUP205 COG1 MAP3K7 TBX15 WDR60 SMARCB1 RECQL4 MECP2 PPP2R3C MFSD2A HNF4A FANCD2 LARGE1 DISP1 ROBO2 ADCY10 FLNA PLCE1 ASPM CEP63 B9D1 NAA10 BAZ1B MT-TS2 PCSK9 CENPF CCBE1 CDC73 POMT2 SLC2A9 SMOC1 UBR1 COL4A5 EBP KCTD1 GP1BB ARX ACTG1 CLPB BBS12 SBDS CAVIN1 SLC12A3 MAP11 TNXB RAD51 EMP2 NPHP4 NRIP1 JAG1 ATN1 COL4A4 PEX11B FAH ADAT3 LIG4 ZNF423 IFT27 INPP5E STAT1 IFNG TBX18 KYNU GLIS2 MAP2K2 UMOD HYLS1 CLCNKB TACR3 AIRE STAT4 BBS7 PIGV PIGO HRAS SMC1A PIK3CA TBX22 KAT6B PLCD1 ADAMTS3 RAD51C CDH23 BTNL2 FOXC2 SPART LMNA PGM3 DUSP6 CDC42 GLMN SLC3A1 TBX1 PLD1 BBS1 CD96 CASR DPH1 FLII RPGRIP1L SETD5 JAM3 CCDC22 APPL1 PNKP COQ8B NSMF LEMD3 TSC1 ARL6IP6 SERPINH1 SLC6A17 PIGW GDF6 GABRD ABCC6 PEX6 COPB2 CSPP1 ITGA8 HLA-DRB1 MT-TV HPRT1 SPINK5 TP63 CACNA1D BUB1B RPL11 SNRPB SETD2 RPS19 SCN1B SLC30A9 ANTXR1 SLC26A1 SLC34A3 KDM6A CTH FEZF1 OSGEP SMS LIMK1 PDX1 STS NARS2 FGF20 SOX17 GNAS MAGI2 AFF4 DDX59 KLF11 COG7 SIX5 ELN IL12A-AS1 FOXH1 NUP160 CEP55 POLE GBE1 PORCN CTNNB1 FUT8 TRNT1 ALDH18A1 SAA1 ADGRG2 FKTN ITGA6 NSDHL CEP135 SOX11 KANSL1 KNL1 KLRC4 EVC CRB2 TELO2 ROR2 HMGA2 DNA2 MT-TQ FIBP NOD2 NLRP3 SHANK3 SCO2 NDUFS2 SLC25A22 VPS33A HSPA9 FLI1 DZIP1L LIPT2 SIX3 FRAS1 GAS1 FASLG MT-CO3 FAM20C SDHA MCTP2 ARVCF KIAA0586 INVS RERE OPLAH TGIF1 MASP1 CTU2 AGTR1 PTPN11 IQSEC2 SKI SLC1A1 VPS33B MAPKBP1 FOS PTPRO CCDC141 PUS3 PAX2 ARMC5 IGF2 TRAF3IP1 HLA-DPB1 ZAP70 UBE2T BNC2 MEN1 LMX1B PPARG STAG1 MT-TH HGD CCND2 RBM10 EFEMP2 PEX14 FREM2 IL12A RFC2 ERCC4 DMXL2 RAF1 SGPL1 MOCS2 CCNQ SRP54 DHCR24 ARNT2 SOX10 PCK2 BBS9 CD2AP BBS2 AR SKIV2L JMJD1C VANGL1 GRIA3 G6PC CFI ENPP1 NEUROD1 ARL6 C1QC PKD2 BRCA2 CENPJ MT-CO1 PAX1 NSUN2 TRRAP NFIA BRCA1 ATP7A CLDN10 PRTN3 ATP6V1B1 BMPER HOXD13 TCTN2 SOX4 SASS6 ETFDH PLVAP SON YY1AP1 NUP107 KCNQ1OT1 FGF17 ARID1A PIK3C2A CAV1 AIP POLR3A CPT2 COQ6 CDKL5 MT-TW NSD1 SPRY2 BUB1 PPP1R15B MT-CO2 USP9X INTU HDAC4 SEC24C PPM1B NEUROD2 ANKLE2 IARS1 CTNS PEX3 MGME1 BMP4 MAX SPRY4 PRMT7 HSD11B2 TPRKB PGAP2 RSPO2 PHGDH NOTCH2 SMARCC2 G6PC3 SLC36A2 SDHAF2 CD81 SEC63 RBM8A MYMK SRCAP SURF1 LHX1 RAB3GAP2 MYH11 TMEM127 CDON NIPBL SLC29A3 GP1BA WDR11 ACE HSPG2 FBLN5 TMEM231 APOB ACVRL1 INTS1 ZNF148 GDF3 BLK SDHC FH IL17RD FANCF PEX26 TBX3 TRIP13 SHH NUP85 TP53RK RIPK4 FIG4 SMC3 B9D2 MAGED2 ZIC2 MYO5B ANLN PLEC KAT6A CASK XPNPEP3 VDR ZNF687 CCND1 FANCG PPP3CA FUZ YY1 TAF13 FBN1 COQ7 MLXIPL RBBP8 KCNJ11 KIAA0753 MT-ATP6 GABBR2 APC2 UBAC2 PIGA ACP5 MCM5 TMEM138 AGT SSR4 EPAS1 SPECC1L MAP2K1 CHN1 DGKE SMARCA4 APOL1 TRIM8 ETFA MOCS1 HLA-DPA1 SMO SHPK ABCC8 FGF10 TLR4 DVL3 RMND1 ADA DPF2 DACT1 COPA ETFB FAM149B1 TBC1D8B GTF2I CEP83 GDF2 WDR62 ANKS6 CA2 DNASE1L3 KCNE5 PYCR2 IL10 METTL5 RASGRP1 POGZ LDLRAP1 SH2B1 KIF7 EHMT1 TMEM260 AHI1 PRPS1 PQBP1 GLI1 COL5A1 PTPN22 VIPAS39 RARB GRIP1 ABCG5 GLI2 FN1 ADAMTSL1 PROK2 CEP152 MYO1E PACS1 CYP27A1 HNRNPU DLL4 COL1A1 SIK1 TBL2 FLNB CEL MME VAC14 MT-ND2 PTH1R ARHGDIA DNAJC21 SEMA3A GP9 BBIP1 NBN CWC27 C1QB SUFU SARS2 ENG TKT PGAP3 BSND RPL26 ACTB CIT TRIP11 WDR73 SOX18 HP_ABNORMAL_RENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PHYSIOLOGY GATM SMARCAL1 BCS1L SDCCAG8 KCNJ1 ELP1 TSC2 IL17F AMMECR1 FAN1 CLCN5 NF1 MEFV CASP10 CTLA4 KCNJ11 CC2D2A BRIP1 GPR35 TMEM138 GATA3 RAG2 YAP1 CYP11B2 FXYD2 MTRR GLA REN CCR1 MT-ND4 CCR6 GPC3 NDUFS3 NUP133 STX3 TRIM32 CFH GRHPR TCF4 BCOR MT-TK MOCOS NPHS1 CFI SLC7A7 HRAS INS GBA IRF2BP2 SLC35A2 SLC37A4 MT-TT XDH CLCNKB BSCL2 LMNB2 PDSS2 IFT43 GALNT3 PHYH SLX4 CLDN16 NUP107 OCLN WT1 NUP93 GCM2 COX8A BBS4 POU6F2 RAD21 C4A IL6 INF2 AQP2 SCARB2 SLC25A20 FANCA ABCA12 MST1 NDUFS6 NPHS2 SLC2A2 SLC25A11 SCNN1A XRCC2 WDR19 OFD1 FAM20A B2M OCRL LZTFL1 AGPAT2 DCLRE1C NPHP1 PMM2 GTF2IRD1 IFT80 NDUFS8 NDUFAF3 FANCB FAS TMEM126B SLC22A12 SDHD SEC61A1 LPIN2 FANCM IRF5 ERCC6 WIPF1 DLST COX6B1 CPT1A HBB GANAB PKHD1 COX14 ATP7B MUC1 SLC5A2 COL4A3 CLIP2 GCK COG6 PYGM DCDC2 XYLT1 STAT4 SLC4A1 SLC34A1 WAS GP1BA RMRP ZFP57 SLITRK6 IL23R SIX1 DIS3L2 ERAP1 ITGA3 NDUFS2 SMAD4 MAFB NDUFV1 ENPP1 BICC1 CFHR5 TGM1 PAX6 WFS1 CFHR1 PLG PKD1 PGAM2 IRAK1 CHRM3 CYP24A1 MDH2 GSN MT-ND6 DNMT3A HLA-B MT-TL1 MAD2L2 PAX4 IQCB1 FOXP3 PLAGL1 PRKCD HNF1A ADAMTS13 PRDX1 SLC12A1 NDUFB3 CLDN19 PBX1 KMT2A COL4A1 TTC21B AGXT LAMB2 H19 LEMD3 FGA BBS10 MMUT C3 ACTN4 IFT122 ADA2 HDAC8 PALB2 LIPN NDUFS7 SDR9C7 ACSL4 TREX1 ABCC8 IL17RC SDHB IFT172 NDUFB8 VHL EIF2AK3 NPHP3 ABCC6 TACO1 NEK8 MT-TF ALMS1 C1QA TRPC6 MT-ND3 CLCNKA ATP6V0A4 AVPR2 CYP4F22 SALL1 F2 AP2S1 BBS5 SLC7A9 ITGB4 DHX37 MT-ND1 SLC26A4 APRT ALDOB IFT140 CAD MT-TE LAGE3 COQ2 HNF1B ATP1A1 COX10 C1QBP PC CYB561 THBD F5 LRIG2 NDUFS1 ITGA2 HLA-DRB1 LIG4 MKS1 NUP205 COG1 ZBTB16 COA8 SRY FLT1 CFB FANCD2 MMACHC ADA PLCE1 PTPN22 KYNU BAZ1B MT-TS2 PAFAH1B1 CDC73 GATA4 WDPCP F8 COL4A5 KCTD1 TRIM28 ITGB3 CLPB BBS12 CAVIN1 SLC12A3 PIGA RAD51 EMP2 NPHP4 JAG1 COL4A4 FAH SLC17A5 IFT27 STAT1 TBX18 YWHAE GLIS2 UMOD NDUFA6 BBS7 SNAP29 CEP164 HMOX1 RAD51C NDUFS4 BTNL2 SOX9 PGM3 KANK2 NDUFA1 SLC3A1 CHD7 BBS1 NDUFA11 RPGRIP1L SETD5 APPL1 IL2RG COQ8B ALOX12B TSC1 HIC1 C8orf37 GP1BB SERPINF2 HELLPAR WDR34 PEX7 NR0B1 DMRT3 NDUFB9 WDR73 MARS1 CSPP1 KCNJ10 CD46 HPRT1 IFIH1 FCGR2A CCN2 SLC30A9 SLC26A1 SLC34A3 CFHR3 OSGEP NUBPL DYNC2LI1 TMEM231 LIMK1 TTR PDX1 STS LPIN1 FANCL MAGI2 LYZ STAT5B MT-ND2 KLF11 SIX5 ELN APOA1 IL12A-AS1 NADK2 NUP160 CASR STAT3 WDR4 SAA1 CDK4 ITGA6 ZNF592 NDUFV2 KLRC4 ERCC8 CRB2 MT-TQ XYLT2 NLRP3 CEP290 SHANK3 SCO2 NDUFB11 DSTYK FOXI1 CA2 MYD88 LMAN1 LRP2 DZIP1L TIMMDC1 NDUFAF8 NDUFB10 FASLG MT-CO3 SDHA CORIN AGGF1 NOD2 NUMA1 KIAA0586 INVS UQCC2 AGTR1 FOXRED1 VPS33B MAPKBP1 NDUFAF4 FOS CISD2 PTPRO PUS3 PAX2 SPP1 TRAF3IP1 HLA-DPB1 ZAP70 UBE2T TMEM216 DHDDS BNC2 MEN1 LMX1B NPM1 SMC1A PPARG MT-TH PRODH MYH9 IL12A PHEX RET RFC2 ERCC4 FCGR2B REST SGPL1 CAV1 EYA1 BBS9 CD2AP DNASE1L3 NABP1 HPSE2 BBS2 VAMP7 ALG1 COA3 VANGL1 G6PC NEUROD1 C1QC PKD2 UMPS TRIP13 DNAJB11 CTNS BRCA2 CACNA1S CD151 MT-CO1 TBL1XR1 CCND1 MT-ND5 BRCA1 CLDN10 PRTN3 ATP6V1B1 WDR35 EPG5 EHMT1 ETFDH PLVAP PNPLA6 NR5A1 SULT2B1 F10 MKKS YY1AP1 NDUFAF2 LCAT TMEM67 CPT2 IL17RA COQ6 SPRY2 HNF4A ARL6 MT-CO2 STOX1 COX20 COL7A1 HSD11B2 TPRKB RAG1 CEP120 TTC8 FANCE SCO1 NDUFAF5 TMEM237 NOTCH2 SDHAF2 PEX19 CD81 CHST14 RFWD3 PGK1 MAP3K1 ZFPM2 MDM2 WWOX SURF1 LHX1 HOGA1 PET100 NIPBL PML CHD4 SCNN1B ACE RRM2B WDR60 ACVRL1 BLK SDHC FH FANCF NUP85 TP53RK ITGA2B FIG4 SMC3 MAGED2 MYO5B ANLN XPNPEP3 FANCG FUZ IL7R NIPAL4 MLXIPL HOXA13 APOE FANCI IKZF1 UBAC2 RARA AGT EPAS1 TCN2 DGKE APOL1 FIP1L1 ETFA ALOXE3 MT-TN HLA-DPA1 SHPK TLR4 TRAF3IP2 RMND1 DMP1 ZNF423 VPS33A DYNC2H1 SLC4A4 DACT1 COPA ETFB TBC1D8B INPP5E GTF2I PRKAR1A CEP83 GDF2 ANKS6 KCNE5 IL10 RASGRP1 SH2B1 TMEM260 AHI1 PRPS1 VIPAS39 MT-TW FN1 TMEM127 BBIP1 HPS1 SERPINA1 ITPR3 MYO1E NDUFAF1 FANCC FBXL4 TBL2 HMBS RYR1 DNASE1 CEL MAX MME VAC14 KIF1B ARHGDIA CCNQ GP9 KCNJ5 LDHA C1QB CD109 SARS2 ENG HYMAI HMGA2 CLEC7A BSND SCNN1G MCFD2 COL3A1 SOX18 HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE SLC37A4 CLCNKB MUC1 AGXT G6PC BICC1 SLC7A7 ITGA3 PKD1 CLCNKA BSND CYB561 PKD2 PUS3 GANAB DNAJB11 HP_ERYTHEMA_NODOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA_NODOSUM BTNL2 XIAP NOD2 HLA-DRB1 ADA2 HP_ARACHNOID_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARACHNOID_HEMANGIOMATOSIS MDH2 NF1 RET SDHA SDHC FH SLC25A11 MAX DLST SDHB SDHAF2 KIF1B TMEM127 SDHD VHL GNAQ HP_URETHRAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STRICTURE MKKS ITGB4 ITGA6 COL7A1 PLEC FERMT1 TERT FLT4 POLA1 CDC45 HP_CSF_PLEOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CSF_PLEOCYTOSIS IFIH1 TBK1 TREX1 RNASEH2A SAMHD1 PRF1 RNASEH2C RNASEH2B TICAM1 TLR3 TRAF3 ADAR UNC93B1 HP_SHORTENED_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_QT_INTERVAL CDC73 KCNJ2 KCNH2 KCNQ1 CACNB2 CACNA1C CACNA2D1 HP_INTRAMUSCULAR_HEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAMUSCULAR_HEMATOMA F2 F10 F8 F13B F7 SERPINF2 F13A1 HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS MSTO1 SCN4A COX20 COA3 SDHD SCO1 KCNJ18 COX6B1 ABHD5 COA8 KCNE3 ISCU CHCHD10 CACNA1S COX14 TACO1 COX8A MT-TN COX10 SDHAF1 PET100 AFG3L2 COQ8A PNPLA2 SDHA GABRA3 HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY TWIST1 CTBP1 CTNNB1 THOC2 SDCCAG8 CHD7 PHF6 INSR IL17F KCNAB2 TCOF1 RAB3GAP1 EPCAM CLP1 UBE3B UPF3B CASP10 MYLK DYNC2LI1 SPRY4 TACR3 FGF17 SHOC2 RDH12 HCCS WDR35 CC2D2A CCR1 CEP41 NR5A1 PTCH1 DSP ANOS1 PIK3CA CCDC174 FGFR1 FAM111A HESX1 DAZ2 OGT CDC14A FGFR3 ROR2 SMCHD1 XRCC4 AMHR2 ESS2 BMP15 BSCL2 SLC7A14 PIEZO2 BCOR LMNB2 SEPTIN12 BBS2 MAMLD1 MRAS SLX4 DICER1 MECP2 SUFU GNRHR CHRNG KMT2D WDR11 BBS4 TREX1 SLC19A2 BUB3 DHODH NALCN ATRX TTC29 WDR60 KDM6B BRF1 RAB18 PHGDH SOX9 FLRT3 EVC2 TBC1D20 WNT4 TOE1 ZFPM2 FGF8 EBP LZTFL1 MAGEL2 ACTA2 UFD1 LETM1 NUP107 TDGF1 MEGF8 SNORD115-1 RAC1 PTPRJ FANCE FLT4 RAD50 WDPCP FGFR2 DCC SUN5 GPR161 EP300 LFNG IRF6 ANKRD11 SIN3A CUL7 PDE4D MMP2 AP1S2 PIGP CRPPA DOK7 IL23R FANCL SMAD4 SRD5A2 ERCC3 DCHS1 C8orf37 PEX5 ATP6V0A2 SOS2 DMPK LEP BRCA1 ADAR RSPO1 GJC2 IFIH1 CERKL STT3A MSH6 CREBBP OTUD6B DNAJC21 STK11 DUSP6 MEN1 EZH2 AKT1 CBX2 TERT NSD2 LEPR PEX2 FZD2 BMPR1A MAD2L2 ZMPSTE24 MED12 GRIP1 PPP2R1A VPS13B PRPF4 NODAL RAF1 DYNC2H1 KCNA1 PRLR AR PEX13 SMARCE1 TTC8 DGCR2 KIAA1109 NEK1 NAA10 LARS2 PBX1 CDKN1C USP7 BDNF HUWE1 ARX PTEN PIGN KCNQ1OT1 RPL10 ABL1 RIT1 PSMC3IP CHRM3 TUBB CDC45 TCF4 HGSNAT FAT4 KIAA0556 PRKAR1A TAPT1 ERCC4 DLL1 KLHL10 RCBTB1 ARHGEF18 RP1 CDC6 RECQL4 PALB2 KISS1R POU1F1 PDE6D SDHD EIF2B3 TEX15 MNX1 RTTN KEAP1 SC5D APC STXBP1 NPHP3 PMS2 MKKS A2ML1 FKRP GPC6 SMARCD1 HES7 GUCA1B CHEK2 PDE6G CCDC28B AURKA VHL PRDM16 ADAMTS3 TP53 HSPG2 DHH TBCK PROP1 GMNN ITGB4 COLEC11 MYF6 ARHGAP31 MAP3K1 MBTPS2 RREB1 PDE6B HOXA13 SELENON STT3B WASHC5 SCN2A TMEM216 PITX2 TMCO1 ALG12 GATA1 ACTB GLI3 PEX19 CFTR SPATA7 PPP2R3C NXN BLM LMOD1 MKS1 GATA4 ANTXR2 DIAPH2 RAD51D SRY KRAS FLT1 SMARCB1 MXI1 WT1 PSMD12 FOXL2 POR FAS DISP1 PDGFRL SOX10 AEBP1 JAG1 RIPK4 LRP2 RYR1 AXIN2 NANOS1 MAB21L2 SEMA4A NRAS EIF2B5 TLR2 ATIC CCBE1 CDC73 SOX2 ZDHHC9 TBX4 UBR1 GP1BB BBS12 RAD51 GALT ATN1 ZFHX3 EPHB2 PEX11B KIAA0586 PCNT DHX37 EYS FH ADAT3 B4GALNT1 MSX1 LIG4 IFT27 EXT2 SMC3 EPG5 HRAS MAP2K2 ESCO2 RELA FMR1 SOHLH1 STAT4 SRA1 BBS7 COLEC10 NR0B1 AKT2 TBX22 RLIM RAD51C FSHR CDH23 LMNA GLI2 CDC42 TBX1 TBL1XR1 CD96 USH2A MLH1 PTPN12 OFD1 RP2 SETD5 MYL2 LZTR1 TRAIP CCDC22 IFT172 BMP4 DAZ1 TINF2 WNT5A FAM161A RPE65 CNTNAP2 PARN KDM5C SLC6A17 SEMA3A KDSR DHCR24 ADGRG2 DMRT3 DAZ3 MERTK ITGA8 RNASEH2A UPB1 HLA-DRB1 GNRH1 TPM2 RRAS ZSWIM6 KIF7 TP63 WDR19 CUL4B NDUFB11 ANKLE2 BUB1B CYP11B1 MAB21L1 OPCML WNT10A KDM6A TBX3 RPS6KA3 B4GALT7 CLIC2 SMS NHP2 LIMK1 SOX3 PRRX1 EIF2B4 HNF1A PAFAH1B1 AFF4 PRPF6 FSHB MAPRE2 ARL6 DNM2 ELN FLNB AARS2 DPM2 MYH3 CEP55 TWIST2 POLE ATR FGFRL1 HSD3B2 ORC6 BTK ZNF408 BRDT XPC KANSL1 FIGLA ERCC8 PLG LIPE CDKN2A POLR1D BRCA2 SPECC1L IGF2 GJA1 BMPR1B MTOR SRCAP MYMK CTCF OTX2 SIX3 FRAS1 PLAGL1 SKI CORIN RERE UQCC2 NDN B9D1 STS CTU2 CNGB1 SLC18A3 UNG FOS CCDC141 CPLANE1 IFT140 TSPYL1 C2CD3 TNFAIP3 VEGFC CXCR4 DCAF17 HLA-DPB1 PPARG DHDDS CDON FARS2 DNAH1 HNRNPK ROBO1 XYLT2 NUP88 HGD GDF6 PEX14 IL12A DMXL2 INPP5K CDH11 ACTA1 KIZ SGPL1 PMFBP1 BBS10 ARNT2 RAB3GAP2 BBS9 HPSE2 GNAS STAT6 ABCA4 ARMC2 GHR ESR1 NELFA RXYLT1 NECTIN1 GJB4 NSUN2 GJB3 TRRAP COL7A1 ASH1L PROM1 PRTN3 CSPP1 ZEB2 POLD1 IMPDH1 HOXD13 TCTN2 PROKR2 TARS1 ALMS1 PRCD BMP2 PLVAP PNPLA6 SLC25A24 ALX4 ATP6V1E1 CA4 LHX4 PIK3C2A CAV1 RNASEH2C STRA6 PRKN IL17RA PIEZO1 EFNB1 BNC1 CDKL5 NSD1 ERCC2 BUB1 SEMA3E PCARE STOX1 HPRT1 INTU TEX11 CCND1 ODC1 MRPS22 HNF1B AHR MTM1 CFAP69 SPEF2 PPP1CB G6PC3 KAT6B NSMF NOP10 IFT80 RBM8A KMT5B SLC39A4 WWOX COX7B PYCR1 SETD2 MYH11 SAMD9 RNASEL SLC29A3 TOPORS NEB SCAPER POLR3B CTDP1 HSD17B3 PROK2 ECE1 HIBCH UBE2A FANCF PEX6 MESP2 CYB5A GPR101 FANCM HYLS1 NBN FERMT1 CYP11A1 CEP290 ZIC2 KAT6A RSPO2 FANCG FUZ HDAC8 NIPBL YY1 PTRH2 ANK1 AIP INPP5E FANCI TNFRSF1A TWNK APC2 PIGA MCM5 PTDSS1 RTEL1 EWSR1 CBL HACD1 RBMX RPGRIP1L TRIM8 POMT2 DDX3Y TXNRD2 SF3B4 HERC2 SMO IER3IP1 TSC2 FGF10 BAX THOC6 TRAF3IP2 FAN1 TRIP4 DPF2 SYNE1 NOTCH2 DACT1 MBD5 NNT KLLN XPA LMX1B OCRL IDH3A TAC3 MC2R KCNN3 RASA2 DHCR7 OPHN1 B9D2 RASGRP1 RHO PSPH ZBTB16 RP9 SPIDR AMH EHMT1 KIAA0753 DNMT3A MLH3 RLBP1 PQBP1 RARB FOXC1 ORC4 KDM1A FOXA2 EBF3 POMK PAX3 PACS1 PTPN11 IDH1 FBXL4 AKR1C4 PRPH2 LHCGR WNT7A TGDS FLNA ERMARD AKR1C2 SOX18 CLMP IL17RD ZMYND15 TULP1 SNRNP200 IFT88 VAC14 GBA2 USF3 CCNQ FKTN CDH1 BBIP1 B3GALNT2 PEX3 CDT1 PSAT1 PRPF31 CLEC7A EVC TALDO1 DKC1 EED PDE6A USP8 HBA2 ALOX12B TAF4B PLIN1 DAZ4 F7 POMT1 B4GAT1 ARID1B REEP6 KIAA1549 GPC3 KISS1 RRAS2 MEFV CTLA4 BRIP1 INSL3 GATA3 MED25 DMRT1 ATM KCNH1 GSC PEX1 NFIX MEIOB MSH2 MSH3 DGCR8 TRIM32 RNF113A SETBP1 TFAP2A PLEC PIGQ CHST14 RPGRIP1 CEP120 GATAD2B CKAP2L PEX10 PTCH2 AGBL5 WRN DVL1 BRAF AGA IL10RB RAD21 NEDD4L C4A GREB1L BEST1 FANCA DGCR6 WFS1 PEX12 DSE CHUK RAB23 TSPY1 XRCC2 TMEM67 NKX2-5 GMPPB HYMAI ALKBH8 SSR4 SUZ12 GATA6 AGPAT2 ATAD3A NPHP1 PMM2 GTF2IRD1 FANCB CDHR1 CEP57 CNGA1 ERCC6 GPC4 DPY19L2 DIS3L2 NEK2 SNRPN MAK CLIP2 COMT SYCP3 POLR3H ERAP1 MCM3AP HIRA PAX6 CPLX1 PMS1 TMEM94 GNAO1 LMBR1 SEC23B WDR34 RPL35A SYCE1 SOS1 PLA2G2A RNF43 HLA-B GATA5 MT-CYB WNT3 SIX6 DDB2 GREM1 FGD1 IQCB1 C11orf95 RIN2 TUB EIF2B1 TGFBR2 POLA1 PWRN1 RPS20 CLPP KMT2A CYP17A1 ACTG2 CILK1 MYC ARID2 KCNQ1 TPM3 EIF2S3 KDM5B ALG8 CTC1 SRC RET SMAD3 POLR3A CCDC8 KMT2E MASP1 IL17RC NAB2 TSGA10 TCTN3 NF1 PEX16 STAG3 SALL4 ERCC5 HHAT AXL RNU4ATAC ZIC3 B3GLCT SALL1 CDKN1B BBS5 IDH3B POMGNT2 ATPAF2 HS6ST1 LAS1L DCX LRIG2 PRKDC FANCC TBCE NKAP TUBB8 COG1 GJB2 MAP3K7 TBX15 H19 ALOXE3 RPGR FANCD2 LARGE1 BIN1 BRWD3 DVL3 BAZ1B UBA1 GK DCLRE1C FREM1 SMOC1 SPATA16 CYP19A1 NONO CAVIN1 NPHP4 CDK8 RGR KIT MAP2K1 MUSK AXIN1 POF1B IRX5 NTHL1 ZBTB20 SEC23A ECEL1 IFT81 AIRE LMOD3 KLHL7 USP9Y TAF6 KLHL40 CEP164 PACS2 BTNL2 DNAJC19 NKX3-2 PLD1 TBC1D24 DLL3 BBS1 ALG9 POC1A JAM3 PNKP SNORD116-1 MYOD1 CIDEC FSIP2 RBMY1A1 CFAP43 ARL6IP6 ATP6V1A ARL3 PHIP LRAT GABRD QRICH2 NOTCH3 DPAGT1 POMGNT1 TEX14 NFIB PRKCD SCN1B FEZF1 CRB1 PHACTR1 GLE1 NKX2-1 MPLKIP KLHL15 STAR INPPL1 FBN1 FGF20 IL12A-AS1 FOXH1 STAG1 PWAR1 MED13L PORCN ATP6V1B2 WRAP53 KIF14 MYRF DLC1 MMP14 ITGA6 SOX11 KLRC4 ERAL1 PALLD SLC25A22 SMARCA2 MRAP POLG FLI1 GAS1 TMEM70 FASLG MCTP2 CEP152 CFAP44 EMG1 ARVCF CRX INVS TGIF1 HBA1 BCL10 RBP3 SDHC ZNF513 KLF6 RNASEH2B IL1RAPL1 UBE2T BNC2 HFM1 SMC1A FREM2 RBM10 RFC2 SIL1 TSC1 PRPF8 SPINT2 VAMP7 MRE11 FBLN1 JMJD1C VANGL1 GRIA3 TTI2 AUTS2 NRL JAK3 POLR1C CITED2 LHB PHF8 SOX4 MTMR14 ARID1A NR2E3 PPP1R15B SATB2 TRAF3IP1 PIGS TNXB CLCN4 SEC24C NEUROD2 TMEM107 FTO PRMT7 ISL1 CLRN1 TDRD9 RIPPLY2 SLC35D1 GDF1 YWHAE SMARCC2 RFWD3 NIN HERC1 LHX1 IDH2 HNF4A GTF2H5 CHD4 KIFBP HFE ARL2BP HSD17B4 CFAP251 MCM8 FLCN ADNP LONP1 SAMHD1 PEX26 NPAP1 TRIP13 SLC26A2 PRPF3 FIG4 GTF2E2 ALDH18A1 CASK NOBOX TTC37 FARSB DLX4 NRXN1 MLXIPL RBBP8 COL3A1 IKZF1 UBAC2 ORC1 OBSL1 GJB6 SMARCA4 NDP AHI1 KCNJ6 EIF2B2 SAG ITGA7 TGFBR1 HLA-DPA1 TLR4 CYP21A2 NKX2-6 RAPSN MAF FAM149B1 GTF2I MID1 KLHL41 DHX38 MCC MECOM IL10 SHH COG5 NPM1 COL4A1 INHBA STAC3 TBX6 CDCA7 GLI1 BARD1 PTPN22 MKRN3 ARCN1 SCYL2 TERC ABCD4 NEXMIF PHF21A ROM1 RAD54B SIK1 DAG1 TBL2 RNF135 SDHB NR3C1 MAD1L1 GJA5 FSCN2 TMEM231 ESR2 IMPG2 USB1 MAP3K20 PUF60 FXR1 HP_ABNORMAL_SEX_DETERMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SEX_DETERMINATION WNT4 CBX2 HSD3B2 CILK1 DHH NR0B1 POR DHX37 NR5A1 SRY AKR1C4 CYP11A1 CYB5A MAP3K1 RSPO1 SOX9 GATA4 ZFPM2 AKR1C2 WWOX CYP17A1 WT1 DMRT3 VAMP7 HP_SEX_REVERSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEX_REVERSAL WNT4 ZFPM2 CBX2 CILK1 DHH AKR1C2 NR0B1 SRY CYP11A1 AKR1C4 MAP3K1 NR5A1 RSPO1 SOX9 HP_OCULOMOTOR_NERVE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_NERVE_PALSY PLEC CDH23 AIP BAP1 CHN1 MAFB PDGFB ENG MYMK ANGPTL6 PIK3CA TERT SMO TRPV4 SMARCE1 SALL4 TRAF7 TGFBR3 SMARCB1 COL3A1 SUFU AKT1 THSD1 UGT1A1 MEN1 NF2 HP_PROLONGED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PR_INTERVAL GPD1L KCNA5 NKX2-5 SLC12A3 DMPK SCN2B CLCNKB HP_ABNORMAL_ST_SEGMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ST_SEGMENT KCND3 SLMAP SCN2B SCNN1A TRPM4 HCN4 RANGRF CACNA1C KCNE3 SEMA3A GPD1L TNNC1 SCN1B ABCC9 SCN5A PKP2 SCN10A SCN3B AKAP9 KCNE5 POLG CLCNKB CACNB2 CACNA2D1 GYG1 SLC12A3 KCNJ8 HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY CCDC39 KMT2D FGFR3 GLI3 PRSS1 RAG1 HAAO DSG1 ELP1 TSC2 IL17F NEK9 KRAS BLNK BACH2 ARHGAP31 SGSH ARID1B PTEN STK11 STAT3 SPINK1 SOX9 CD19 DNAH1 AICDA RRAS2 MEFV GABRG2 CASP10 CTLA4 PDGFRA PON1 BRIP1 COL2A1 GATA6 SFTPC FOXN1 GPR35 MED25 DYNC2LI1 RAG2 CBL TTC37 ATM LTBP3 CHD7 STN1 RSPH3 GLA WDR35 REN LAT CCR1 TYK2 BGN NR5A1 CCR6 TTC7A GPC3 LGI4 IL6 GAS8 DGCR8 COLQ TCF4 COL11A2 RUNX1 BCOR ORC6 DCLRE1C SERPINA1 SLC7A7 HRAS TBX1 GBA NEK1 RNF113A ICOS SETBP1 CFI IRF2BP2 RAI1 MYBPC3 CEP57 SEMA3E CHST14 CHRND CEP120 ESS2 BMP15 HPS4 IFT43 BCL2 MRAS SLX4 DICER1 MECP2 WRN C9orf72 GLB1 UNC13A CSF2RB SELENON CHRNG INPPL1 CD3G ACADVL PAX3 NSMCE3 AGA CCDC65 POU6F2 HGSNAT C4A SFTPB NFIX BUB3 RSPO1 MARS1 GREB1L SLC26A2 EXOSC9 LRP12 FCGR2A FANCA WDR60 ABCA12 TRIP11 ANO3 DGCR6 MST1 DSE NCF4 FGFR1 ARSB LYST BRF1 TPP2 FOXF1 PHGDH EDNRB SCNN1A ERBB4 EVC2 XRCC2 ITCH WDR19 WNT4 SFTPA2 WT1 IGHM DNAAF4 CRTAP OCRL TP53 CFB TNNI3 TINF2 MAGEL2 ATP11A LTBP4 TAF1 SCNN1B GTF2IRD1 IFT80 UFD1 MUC5B NUP107 FANCB BRAF FAS SNORD115-1 IL2RG MYH3 GPKOW CCNF RFXANK LPIN2 FANCM TAP1 CD3D IRF5 FOXJ1 AGRN KITLG PIK3R1 WIPF1 GPC4 CYP2A6 RPGR CORO1A ZMPSTE24 TONSL EP300 JAGN1 FREM1 LFNG TGFB1 CD3E DNAL1 EXTL3 DEAF1 NCF1 TREM2 SNRPN CLIP2 COMT POR HESX1 STAT4 HLA-DRB1 WAS DOK7 RMRP RSPH9 IL23R FANCL DIS3L2 SOD1 ERCC3 RAB27A POLR3H ERAP1 DCHS1 FOXP1 ITGA3 SMAD4 CFH PCGF2 ATP6V0A2 DNMT3B NOTCH1 BICC1 HIRA DKC1 LEP BTD BCR VCP TGFBR2 AKT1 PTH1R TARDBP ATP5F1A RNF125 FBN1 TGM1 CCDC40 NEK10 TGFBR1 RAC1 CREBBP TMEM94 ELN DNAI2 PLG UGP2 COL6A1 SLC25A1 WDR34 IGLL1 IRAK1 CHRM3 SOS1 MYH7 COG6 CD8A STX1A GSN DNAJB13 PRKN EDARADD TERT NSD2 HLA-B MT-CYB WNT3 LEPR MKS1 IL2RB CAT MAD2L2 PARN GRIP1 TRPV3 GATA4 CHAMP1 C11orf95 FOXP3 RAF1 MSH6 RIN2 DYNC2H1 BTK SMARCE1 DGCR2 ALPL SLC18A3 NR2F2 STRA6 NKX2-1 TERC CAV1 NAA10 PWRN1 FGFR2 RYR1 CR2 PIGN CCNO PKD1L1 RPL10 COL5A2 BLM H19 ABL1 CFTR RIT1 IL2RA PSMC3IP ARID2 SLC35C1 TIMM8A CDC45 NFKB2 CCDC114 TPM3 ADA LRRC56 PEPD FAT4 KIAA0556 GRHL3 TAPT1 NBN GDF1 PRKCD CTC1 RCBTB1 PMM2 RET KRT6A SMAD3 POLR3A PALB2 LIPN BMPR2 SDR9C7 ASAH1 DNAAF6 CRELD1 OSTM1 SOX4 RNU4ATAC COL13A1 DHCR7 GPC6 MGP MCIDAS DAO IL17RC PSAP NAB2 KEAP1 TSC1 CITED2 SLC1A4 NGLY1 PPP1CB MANBA FGF20 A2ML1 MITF MAP3K8 ALB SMARCD1 HES7 POLA1 ERBB2 ALMS1 GUSB SMN1 SLCO2A1 CD79B CFAP221 AMER1 LAMA3 ZIC3 VHL CYP4F22 STK36 HSPG2 HNRNPA1 PLOD1 DSP GMNN NHP2 OFD1 TNFRSF11A MALT1 SLC26A4 CSF2RA MSH2 COG4 RREB1 FOXE1 CD40LG NME8 UBE3B NPHP3 LMNA GLE1 CFAP298 SMPD1 F5 BTNL2 ALG12 IL21 TRIM2 BCL10 PRKDC TNFRSF13C NXN ERCC6 TBX5 LIG4 TBCE GALNS ACTA2 SLC12A6 SOX10 ZBTB16 FBLN5 NAGLU HELLS CTSC PRKG1 RASGRP1 ADGRG6 SMARCB1 SP110 RSPH1 ARMC4 LAMTOR2 ABCA3 NHLRC2 FANCD2 IKBKB MBTPS2 PTPRC MMP21 TCIRG1 MS4A1 ANXA11 MTHFD1 DNAI1 DVL3 PLCG2 PTPN22 BCL11B BAZ1B RTEL1 CALCRL CCBE1 DNAH11 ASXL1 SOX2 SAMD9L PIK3CA TREX1 EBP TRIM28 GP1BB CLPB EFL1 FLNA GFI1 IRAK4 RAD51 DNAAF2 JAG1 EGFR KIAA0586 PCNT DNAH5 NFKB1 STAT1 TET2 FLNB CCDC151 MFAP5 TBK1 EPG5 SLC25A22 HYLS1 XIAP MUSK SLC35A1 GNPTAB LOX IL12B CRKL ZMYND10 GRIN2A COL6A2 PIGL MIF IFT81 LMOD3 GAS2L2 SF3B4 CDCA7 PRPS1 TGFB3 TCOF1 ERF FIG4 KLHL40 SLC34A2 EPHB4 RFX5 KAT6B HYDIN RELB RLIM ADAMTS3 RAD51C PUF60 SCN9A FOXC2 SH2D1A PGM3 NOS1 ERCC2 GLMN CHCHD10 TBC1D24 DLL3 POLE ALG9 LRRC6 TNFRSF13B CD28 CTRC FLII RANBP2 CHRNA1 IL7R MYL2 LZTR1 MAP3K7 TRAIP CCDC22 SNORD116-1 MYOD1 ALOX12B KIF11 TRPS1 SGCG CCN2 EOGT CHAT SERPINH1 CDT1 CTCF UBB PRKAR1A PIK3CD BAP1 DHCR24 TTC25 CARD11 SERPINF2 HELLPAR CXCR4 MASP2 IL6ST TBCD CSPP1 AHDC1 ITGA8 KIF20A PERP CASP8 SCNN1G CD46 TNFSF12 RRAS RHOH SPINK5 MAT2A LACC1 SNRPB KDM6A IDUA TBX3 PFN1 DOCK8 ARHGEF1 SPAG1 LIMK1 SOX3 MPLKIP MINPP1 BIRC3 CD79A AFF4 FSHR STAT5B MYO5A NOTCH3 IL12A-AS1 NADK2 RELA MLX DPM2 PWAR1 MESP2 CASR PORCN ELANE CD81 PNP PRSS2 ZAP70 WRAP53 PPARGC1A DNAAF1 MYRF CLCA4 HABP2 DNAH9 FAM13A SERPING1 LRBA RSPH4A NSDHL SOX11 KANSL1 TNNT2 KLRC4 SMARCD2 PIEZO2 SLC5A7 EVC KIF1A ACVRL1 ROR2 IFT172 WDR26 POLR1D FADD NOD2 SNIP1 CACNA1C CYBC1 FOXI1 VPS33A OPTN MYD88 DOCK6 MYSM1 FLI1 MAN2B1 FRAS1 HLA-DQA1 IL21R FASLG FAM20C C2CD3 COL6A3 KIAA0319L MCTP2 AP3D1 AGGF1 EMG1 ARVCF NUMA1 DLL4 TFRC KIF7 NDN MAPK1 LAMA2 AGTR1 DONSON IQSEC2 LAMB3 TNFSF11 RBPJ UNG FLCN MKKS UBQLN2 GALC SCN10A B3GLCT CCDC103 CLCN7 SQSTM1 SPP1 PLEC HLA-DPB1 RFXAP UBE2T SCN11A NPM1 APOE PEX1 USB1 SOS2 MYH11 HLA-DQB1 TBC1D23 TTC21B EFEMP2 MYO9A RBM10 IL12A RIPK4 RFC2 SLC22A18 ERCC4 FCGR2B ACTA1 REST SRP54 KRT16 SNAP25 IRF8 CCNQ NCF2 MEIS2 ZNHIT3 DCTN1 ZBTB24 PTPN11 NABP1 B2M KCNMA1 FUCA1 MYCN SKIV2L JMJD1C NEFH PEX13 VANGL1 RPL5 PDGFRB STAT6 ARMC2 TRIP13 BRCA2 LAMC2 CEP55 NELFA SYT1 NECTIN1 EPM2A TBL1XR1 CCND1 JAK3 MYPN IDS POLR1C TRRAP ZFPM2 DDR2 KIF22 ECM1 NFKBIA BRCA1 BUB1B SCN4A PRTN3 EMC1 ZEB2 CYBB HOXD13 SNAI2 GAA TARS1 ETFDH BMP2 PLVAP SULT2B1 SLC25A24 CHMP2B CFAP410 PLP1 ARID1A ATP6V1E1 TCTN3 FCN3 IL17RA PIEZO1 BNC1 SLC52A3 BUB1 CIITA MYLK ASCC1 DNAAF5 LCK UMPS RNF168 USP9X INTU RUNX2 HDAC4 SPECC1L SEC24C GLDN FLT4 EPHA4 MRPS22 SYT2 LAMB2 PRMT7 DNAAF3 FLNC SON PRKAG2 DPP9 TECPR2 TNFRSF1B NUP88 AARS2 RSPO2 RIPPLY2 LIFR FANCE CYBA TRIP4 VAMP1 NOTCH2 SMARCC2 G6PC3 NOP10 MYMK RFWD3 SHROOM4 TGFB2 SLC11A1 PON2 RIPK1 UNC119 SAMD9 GTF2H5 PML SLC29A3 ACE NKX2-5 MATR3 SCARB2 HFE NEB GNS NFE2L2 SCARF2 DCTN4 FUS FANCF ADNP IFT140 KCNJ10 NPAP1 ADAMTS2 P4HTM CFAP300 RAB3GAP2 PON3 PAX6 GTF2E2 NRAS SH3KBP1 KAT6A ZNF341 BCL6 SPEF2 MSN MCM4 FARSB FANCG FUZ NIPBL SLC2A10 COQ7 NIPAL4 MLXIPL GLT8D1 COL3A1 FREM2 ALDH18A1 LETM1 FANCI TNFRSF1A PRRX1 IKZF1 UBAC2 ACP5 RARA TPM2 APC SFTPA1 AGT RPS15A CARMIL2 UBE2A TAPBP PROKR2 EWSR1 SNX10 TAF15 SMARCA4 NIN AK2 KCNJ6 FIP1L1 HACD1 EDN1 ETFA ATXN2 ITGA7 ALOXE3 HLA-DPA1 HERC2 NEK8 SLC46A1 SMO LRRC8A IER3IP1 RARB ADAMTSL2 TLR4 TRAF3IP2 HPS6 FAM111B FMO3 DPF2 RAPSN LBR IRF1 MLH1 DRC1 COPA PKHD1 ETFB CRLF1 ENG PANK2 WNT7A EIF4A3 GTF2I CD247 KLHL41 GDF2 BMPER LRP4 PIGT RASA2 DNASE1L3 SRPX2 THOC2 TK2 FBN2 IL10 IFNGR1 COL12A1 INHBA SPIDR EHMT1 CDC42 RB1 NHLRC1 TBX6 VPS13A TMEM260 PRPH FCGR3A TSPYL1 INVS VPS13B GLI1 COL5A1 TTC12 ITPR1 MKRN3 SDCCAG8 IFIH1 ORC4 GATA2 EIF2AK4 TAP2 HPS1 WASHC5 TRPV4 LONP1 KRT17 SRSF2 ARNT2 STING1 FANCC COL1A1 ANG VAPB TBL2 OTX2 CACNA1B SOX18 DNASE1 PPP2R1B FERMT1 TCF3 CC2D2A IL1RN PYROXD1 HPGD PSAT1 CD55 SIK1 KRT6B CLEC7A MAP3K20 KPTN FOXE3 AP3B1 HP_ABSENT_OUTER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OUTER_DYNEIN_ARMS DNAL1 DNAAF1 CCDC114 CCDC151 CFAP300 DNAAF3 ZMYND10 LRRC6 DNAAF5 CFAP298 HP_ABSENT_INNER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_INNER_DYNEIN_ARMS CCDC39 DNAAF1 CFAP300 DNAAF3 ZMYND10 LRRC6 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY CCDC39 DNAAF2 DNAJB13 RSPH1 RSPH9 SPEF2 CCNO CCDC40 SPAG1 DRC1 FOXJ1 MCIDAS ZMYND10 RSPH4A DNAH5 DNAAF4 GAS2L2 GAS8 DNAH1 CCDC151 ARMC4 DNAAF3 CCDC65 DNAL1 TTC25 DNAI2 NEK10 CFAP221 RSPH3 LRRC6 DNAAF1 CFAP298 DNAI1 DNAAF5 RPGR STK36 DNAH9 HYDIN DNAAF6 OFD1 CCDC114 DNAH11 CCDC103 LRRC56 NME8 TTC12 CFAP300 HP_CILIARY_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CILIARY_DYSKINESIA DNAI1 DNAL1 CCDC39 DNAAF2 RSPH9 CCNO DRC1 DNAAF5 RSPH3 RSPH4A DNAH5 DNAAF4 CCDC114 DNAH11 HYDIN GAS8 RSPH1 CCDC40 CCDC151 DNAAF3 CCDC65 SPAG1 DNAI2 NME8 DNAAF1 CCDC103 ARMC4 ZMYND10 LRRC6 CFAP298 HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT MSTO1 MT-TE GYG1 GYS1 PHKB PYGM TRMU PFKM ENO3 HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION PSAT1 PSPH PHGDH SLC7A7 SLC25A13 HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY FGF8 WDR11 SEMA3A BAP1 FLRT3 PDGFB PROKR2 NSMF PIK3CA TERT KISS1R SMO CCDC141 CHD7 SMARCE1 FGFR1 HS6ST1 DCC FGF17 TRAF7 ANOS1 SMARCB1 SOX10 TRH IL17RD SUFU SPRY4 DUSP6 TACR3 LHX3 AKT1 NF2 FEZF1 HESX1 PROK2 HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY TMEM216 SOX2 OFD1 GLI3 KIF7 SMO CTNNB1 KIAA0753 SIX6 BRAF FAM149B1 LEPR CPLANE1 TCTN3 PDE6D HP_NEOPLASM_OF_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_HEAD_AND_NECK FOXE1 RHBDF2 SDHB KIT HABP2 SDHA MINPP1 FH CTHRC1 APC SDHC RAD21 STK11 ASCC1 PDGFRA STAT1 RNF6 TGFBR2 WWOX MSR1 RSPRY1 DLEC1 HP_ABNORMAL_GENITAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GENITAL_PIGMENTATION HSD3B2 BMPR1A CYP11B1 PTEN POR HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE MAN1B1 COG8 COG6 MGAT2 COG1 SLC39A8 COG4 HP_HERPES_SIMPLEX_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERPES_SIMPLEX_ENCEPHALITIS TBK1 STAT1 TICAM1 TLR3 UNC93B1 HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY DNAH1 JMJD1C ESS2 ACVR2B TBX1 KRAS SEC24C FGFR1 TMEM260 GLI3 PPP2R1A HIRA CRELD1 PUF60 FLT4 GATA6 RREB1 GJA1 NKX2-5 DGCR8 EP300 DIS3L2 SEMA3E PIK3R2 MCTP2 WDR26 CREBBP CHD7 DGCR2 PIGN GDF1 GP1BB SMG9 ARVCF STRA6 MMP21 UFD1 COMT DGCR6 GBA HP_ABNORMAL_RIB_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIB_OSSIFICATION LBR SBDS MGP SRP54 DNAJC21 SLC26A2 BMPER HP_MONOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCYTOSIS G6PC3 ELANE TCIRG1 SRP54 GFI1 NRAS DDX41 KRAS HP_FIBROUS_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROUS_TISSUE_NEOPLASM MLH1 PIK3CA BAP1 ELMO2 MTAP TERT TSC2 KLLN SMO APC NF2 ABCA5 TSC1 IFNG PTEN KCNN3 CASP10 CDC73 RASGRP1 FAM20C ATP6V1B2 CDKN1B PTCH1 CTNNB1 KCNH1 KRT17 PDGFRB NOTCH3 AKT1 MSH2 PLCD1 SMARCB1 CREB1 HRAS PRLR SEC23B REST ANTXR2 RSPRY1 SOS1 SPRED1 MEN1 NF1 BMPR1A GREM1 FLNA KIT FASLG SDHB NRAS PRKAR1A MSH6 DHCR24 FAS PTCH2 USF3 KRAS SDHC PDGFB SMARCE1 TRAF7 SUFU CDKN1A PRKCD CDKN2B CDKN2C SDHD HP_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOID_LEUKEMIA SAMD9L NF1 SRSF2 ARHGAP26 TERT NRAS F13A1 TET2 DNMT3A KRAS ASXL1 GATA2 KIT F13B PTPN11 TERC CBL SETBP1 HP_PYELONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYELONEPHRITIS PKD2 XDH BNC2 CFI HOXA13 SHANK3 GANAB BICC1 KCTD1 PKD1 HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY MAPT CYP11B2 LIFR KCNE2 VPS11 SPIB PINK1 DNAJC13 TTR SNCA SCN11A ELP1 FMR1 PSAP GBA CAV3 ATXN3 ADH1C SNCAIP LRRK2 SIM1 ATXN2 KCNJ5 POLR3A SCN3A BRAT1 VPS13C TBP SYNJ1 ATXN8OS UCHL1 TUBB3 CACNA1C CAV1 KCNH2 DBH POU2AF1 AAAS LEP KCNQ1 NR4A2 ECE1 HEXB KCNE1 NOS1AP PODXL WFS1 GIGYF2 TRDN WDR45 CALM1 PRNP GABBR2 PHOX2B CYB561 COQ2 ATP7A RET IL12A PRKN GSN MECP2 SCN10A LEPR LMNB1 B2M GBE1 FBXO7 KIF1B IL12RB1 NTRK1 SCN4B AKAP9 SCN9A SOX10 MMEL1 SNTA1 GLA CCT5 GMPPA IRF5 PARK7 HTRA2 ARSA ASCL1 CISD2 VPS35 SLC18A2 TSPYL1 TNPO3 EIF4G1 CHCHD2 TXN2 CALM2 ANK2 TNFSF15 TCF4 SCN5A SLC6A2 GLUD2 DNAJC6 HP_EXTRAHEPATIC_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAHEPATIC_CHOLESTASIS SMAD4 BRCA2 CDKN1B CDKN1A PALLD CDKN2A PALB2 CDKN2B CDKN2C BRCA1 TP53 MEN1 KRAS HP_ABNORMAL_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HOMEOSTASIS IL2RA VPS11 PRSS1 ELMO2 KCNJ1 MICOS13 SYNJ1 INSR ELP1 NEUROG3 FRMD4A FRG1 IL17F SPINK1 ADCY3 MT-CO1 TSFM DMXL2 TP53 PLPBP CASP10 KCNJ11 ECHS1 SDC3 ASAH1 NDUFS7 NDUFAF1 NDUFV2 GPR35 TK2 RAG2 STAT3 PPP1R3A NSD1 CYP11B2 GRHL2 RDH12 GLA WDR35 CCR1 MT-TL1 TTC7A SH2B1 NDUFS3 AUH HESX1 TTPA NDUFAF6 INS GBA CFI ALAS2 MYBPC3 MRPS16 MT-TT XRCC4 CLCNKB BSCL2 SLC7A14 LMNB2 BBS2 BCL2 MRAS LACC1 MC4R CASK ACADVL PAX8 TREX1 PDX1 SLC19A2 SERAC1 BUB3 PDE8B LIPA SLC26A2 AQP2 FCGR2A ABCA12 FOXC2 TRIP11 ATP5F1D CFTR RETN LYST NDUFV1 NBAS ORAI1 GPD2 ABCC8 SLC16A1 WT1 HNF4A FGF8 UQCC3 SDHA DGUOK CPT2 TNNI3 MAGEL2 APPL1 LTBP4 NDUFAF3 DDC TDGF1 SNORD115-1 ZFYVE26 TMEM126B NDUFS2 RARS1 LPIN2 CD3D CHRNG FLT4 WIPF1 COX6B1 PCCA LMBRD1 HBB PPP2R5D COX14 MT-TW GPR161 FGB AIFM1 MMP2 ITPR2 HLA-DRB1 WAS NDUFS6 ZFP57 IL23R HNF1A WNK4 DIS3L2 PDHB DCHS1 FOXP1 ITGA3 ALPK3 CALR CFH C8orf37 PEX5 PDHX USP8 DMPK LEP BRCA1 BTD ADAR MRPS34 UQCRC2 PCK1 GJC2 IFIH1 CARS2 UQCRQ CERKL TGM1 MRPL3 CFHR1 OTC TPK1 CTSA ATP1A2 HPGD SMCHD1 PREPL ACAT2 ACADM BCR IGLL1 IRAK1 GCK UNC93B1 NALCN TNFRSF11B MT-ND6 TERT FBP1 LEPR PIK3CA PEX2 HMGCL GH1 GRIP1 RP1L1 FOXP3 SLC25A3 LARS2 PRPF4 NODAL RAF1 TANGO2 DYNC2H1 PRDX1 TTC8 ALPL KIAA1109 NEK1 MTFMT NDUFB3 PRKACA RYR1 CDKN1C OXCT1 PIGN H19 LEMD3 FGA RIT1 PYGL ACAD9 TUBB HGSNAT ERCC5 TAPT1 NLRP3 ERCC4 DLL1 MT-TF PEX10 ARHGEF18 RP1 POU1F1 PAH NLRP12 CAMKMT CCN6 ABCC9 EIF2B3 EIF2AK3 MKKS A2ML1 POLG GPC6 TACO1 LYRM4 ALMS1 GUCA1B GUSB PDE6G CCDC28B MT-ND3 AVPR2 APOE ISCA1 GCDH FGFR3 CYP4F22 PTPN22 MRPS22 ADAMTS3 EDA CD247 TBCK PROP1 MYF6 PDE6B CAD TRAF6 LHX4 SLC5A1 C1QBP GYS2 PC NAGA FAT4 CYB561 MMUT WNK1 ALG12 MEN1 GLI3 USP18 HTRA2 NDUFS1 SPATA7 TRMT10A BLM ZBTB16 MT-CYB ANTXR2 COA8 TARS2 WDR60 KRAS FLT1 COQ8A HLA-B ACADL FAS MMACHC TMEM165 MBTPS2 APOA5 DISP1 COX10 LIFR ANKRD55 TWNK KYNU ASCL1 UQCRB EIF2B5 CALCRL CCBE1 TRAF3 BCKDHA SOX2 ATXN3 ATP7A F8 EARS2 UBR1 EBP KCTD1 TRIM28 MIPEP SLC12A3 MVK ATP1A3 GFI1 GLYCTK GALT SLC16A2 KDF1 REEP6 KIAA0586 HLCS PSMB9 EYS SLC17A5 ALG3 ERCC3 EHHADH EPG5 MT-TN CACNA1A HADHB MAP2K2 ZFHX2 XIAP MT-TP ERGIC1 MIF STAT4 UQCRFS1 STXBP2 UROS AKT2 ACSF3 CDH23 SCN9A NDUFS4 LMNA ENG HBA2 PRNP CDC42 USH2A NECTIN4 MPC1 RP2 SETD5 IL7R LZTR1 IFT172 MECP2 IL2RG COQ8B ALOX12B KIF11 POGZ PHKG2 PDE11A MT-ND4 FAM161A RPE65 CNTNAP2 PARN ASXL2 SMAD4 NR3C2 KDSR KRT18 HELLPAR FOXRED1 HSD11B2 NDUFB9 MERTK PHKA2 ITGA8 RNASEH2A NDUFA13 SCNN1G ETHE1 MT-TV PSAP SLC25A26 SLC25A19 CD46 RRAS CACNA1D SLC4A1 C12orf65 HNF1B COL1A1 HSPG2 IGFALS MCCC2 MRPS2 ANTXR1 CFHR3 EFL1 OSGEP NUBPL SNX14 SMS SHOX LIMK1 LIPT1 SOX3 LBR SLC2A2 SUCLA2 EIF2B4 HYMAI LPIN1 AGRP NARS2 CD79A AFF4 SURF1 SLC22A5 LYZ PRPF6 MAPRE2 NOTCH3 LIG4 ARL6 DNM2 PRPH2 ELN NDUFS8 NADK2 GSS MYH3 WFS1 GBE1 RRM2B PRSS2 ADA2 MT-TC EPB41 FUT8 HSD3B2 PDP1 NRAS HADH ZNF408 ALG11 PAX6 XPC NDUFAF8 GHR AGK PSTPIP1 HMGA2 LRP6 HPD LIPE MT-TQ CDKN2A RARS2 CACNA1C GJA1 SH2B3 COL8A2 CYBC1 MTOR IRF8 CA2 MYD88 SFXN4 GCH1 AGL FLNB NDUFB10 SIX3 SCNN1A PLAGL1 HAVCR2 CORIN SLC40A1 MLYCD AGGF1 NOD2 NUMA1 CA5A PRKAR1A UQCC2 NDN SPINK5 LAMA2 LRPPRC TGFB1 CNGB1 SLC1A1 LIPC SLC25A4 DST SCN10A FOS PTPRO IFT140 HFE SLC18A2 TSPYL1 TNFAIP3 SPP1 VEGFC ELANE ARMC5 IGF2 DCAF17 HLA-DPB1 PPARG DHDDS CDON PPA2 LMX1B ANK1 MAPK8IP1 ROBO1 SOS2 MT-TH PEX6 HGD PCCB DARS2 SCN5A IL12A PRF1 RHO KCNQ2 REST MMAA KIZ SGPL1 ZNHIT3 NDUFAF5 NDUFA12 PCK2 NABP1 NLRP1 SCN4A CACNA1S SLC25A15 FUCA1 COA3 G6PC SUCLG1 STAT6 NEUROD1 ABCA4 LAMC2 ESR1 CTRC TBL1XR1 GJB4 CCND1 DNM1L GJB3 TYMP PTF1A ITCH PROM1 PIK3R1 MYO5B PCSK1 PRTN3 IL2RB CISD2 CYBB IMPDH1 GAA PROKR2 FECH PTS ETFDH PRCD BMP2 COX15 PLVAP PNPLA6 SULT2B1 AHCY KDM6A GATA6 KCNQ1OT1 NDUFA10 CA4 POMC NTRK1 CAV1 RNASEH2C IL17RA PIEZO1 ERCC2 BUB1 PSMB4 PCARE TKFC MT-CO2 STOX1 COX20 VSX1 ANKH PPM1B TRMU DOLK CTNS KLF11 GLUD1 AHR PRKAG2 STAT1 RAG1 OPA1 AARS2 DNAJC3 SCO1 KLHL7 PHGDH SPTB PGM1 RANBP2 NOP10 MPI IFT80 CTNNB1 HADHA IGHM PET100 SAMD9 DBT CPA1 PML SLC29A3 SERPING1 COG8 TOPORS KIT SCNN1B NEB SCAPER SLC25A20 TUFM WARS2 BLK HIBCH CYC1 TBX3 MT-CO3 ADAMTS2 GPR101 NR0B1 CARTPT MT-TI ZIC2 PLEC SH3KBP1 POMGNT1 BCL6 NRL FUZ GATA2 PTRH2 FBN1 KIF1B AIP TAZ ALDOB TNFRSF1A APC2 EDAR PIGA PNPLA2 PMPCB SPTA1 GTPBP3 RTEL1 SLCO1B3 SNX10 CBL DPYS ETFA TXNRD2 ALOXE3 HMGCS2 PNPO HERC2 SCO2 IER3IP1 SLC52A1 TSC2 ABCC6 MRPS7 TRAF3IP2 NDUFAF4 BMPR1A SLC4A4 NR0B2 DYSF NNT CCDC88A PROK2 TICAM1 NR3C1 YARS2 XPA PAX4 OCRL IDH3A PPP1R15B MC2R MMAB RASA2 ATP7B HJV RASGRP1 PSPH NDUFA1 RNF168 RP9 TCF7L2 IBA57 MPL RLBP1 SLC25A13 INVS NKX2-5 HEXB NDUFA2 SLC3A1 COL2A1 MTNR1B KLF1 ITGB4 VIPAS39 SRP54 GLI2 CRLF1 FOXA2 CD79B PTPN11 CPN1 GOT2 MT-ND5 CTDP1 COL11A1 FBXL4 FSHR MAFA SOX18 CEP19 RELN SEMA4A ZEB1 TULP1 SNRNP200 IFT88 VAC14 MT-TE PUS1 STUB1 ENPP1 CDAN1 HLA-DQB1 NHP2 FXN CAMTA1 TKT PRPF31 CLEC7A SLC25A42 KPTN SLC30A8 TALDO1 BSND DKC1 GATA1 PDE6A MT-TK FGFR1 TET2 GABRA3 GATM PLIN1 CASR BCS1L NEK9 KIF7 BLNK PTEN KIAA1549 GPC3 EDA2R RRAS2 MEFV CTLA4 RUNX1 HMGA1 BOLA3 GATA3 ATM IL6 POLG2 MCEE STX3 TCF4 BCOR SLC7A7 HRAS IRF2BP2 SLC37A4 L2HGDH CEL PTCH1 CHRND DLD PDSS2 PKLR CLDN16 PALB2 AGBL5 WRN CHCHD10 INPPL1 KLHL3 TIMM50 COX8A BRAF STX11 POU6F2 RAD21 TBX19 F12 C4A MARS1 GREB1L BEST1 ADRB3 MST1 UCP3 NCF4 NPHS2 NDUFA11 F5 B2M BCAP31 UNC13D AGPAT2 OFD1 ATAD3A TINF2 DCLRE1C ACAT1 PMM2 GTF2IRD1 KRT14 LIAS CDHR1 IGF2BP2 CEP57 CNGA1 CPT1A CD3E DNMT3B NEK2 SNRPN MAK GALC CLIP2 RMRP DNMT1 GLIS3 KCNN4 RAB27A PLAA ERAP1 TRMT5 TFAM NEU1 IVD AKT1 PTH1R RNF125 RAC1 ATN1 WDR34 SOS1 CYP24A1 COG6 MRAP GSN G6PD SDHD BRCA2 CAT DDB2 RIN2 ADAMTS13 TUB ABCA1 EIF2B1 SLC12A1 POLA1 PWRN1 KMT2A AR AGXT LAMB2 SLC26A3 NCF1 NDUFA4 CAVIN1 KCNQ1 EIF2S3 ZMPSTE24 IGF1R PDHA1 EDARADD CTC1 ERBB3 MMADHC ACTN4 DLAT RET NSMCE2 CDKN2B HDAC8 MTO1 LIPN MT-ND1 SDR9C7 DHCR7 BCKDHB AMACR IL17RC NAB2 NDUFB8 NGLY1 ALB SLCO2A1 PHOX2B CLCNKA ATP6V0A4 LAMA3 CDKN1B IDH3B MFRP MALT1 ATPAF2 KRT2 ADRB2 COQ2 NAXD BCL10 ALG9 GDNF POMP RPGR NFKB2 TCIRG1 SDHAF1 PRPF8 HCFC1 CYP11A1 BIN1 PMP22 ADA PLCE1 WDR11 BAZ1B MT-TS2 KRT8 HS6ST2 GK ASS1 GYPC CDKN1A ACTG1 CLPB FGG CUL3 JAG1 PCNT FAH RGR MAP2K1 PTPN1 NR2E3 IL12B NPHS1 PTPN2 ACADSB XPNPEP2 ZBTB20 NDUFA6 AIRE LMOD3 KLHL40 COL1A2 EPHB4 FH PLCD1 BTNL2 ALG1 PLD1 CHD7 CYP17A1 CD28 POC1A MOG TBK1 CHRNA1 MT-ATP6 SNORD116-1 CIDEC BBS1 JAK2 NDUFA9 KCNE3 ALDH6A1 ARL3 LRAT ATP5F1E KIF20A SUMF1 OTX2 CD27 KCNJ10 KCNJ5 TXN2 PRKCD SETD2 CRB1 NOS3 NKX2-1 BIRC3 EPB42 FGF20 GNAS IL36RN STAT5B FOXG1 MT-ND2 COG7 APOA1 IL12A-AS1 FOXH1 MLX PNPLA8 PWAR1 LCT MRPS14 KRT13 WRAP53 MRPL44 HAMP MMP14 TRNT1 DBH NGF PNPT1 CP TNNT2 AEBP1 KLRC4 NDUFAF2 KIF1A NDUFB11 HSD17B10 PALLD MPV17 SHANK3 HSD11B1 GPC4 LIPT2 TIMMDC1 OTULIN GAS1 FASLG ASL COQ4 LARS1 GFM2 CRX OGDH TGIF1 RBP3 LAMB3 TNFSF11 VPS33B ZNF513 NR1H4 CLCN7 GNPTAB IRS1 RNASEH2B SCN11A GLRX5 QDPR COQ9 NPM1 SMC1A CDKN2C SLC19A3 STAR RFC2 NLRC4 MCCC1 TSC1 NCF2 RNASEH1 STIM1 LYRM7 VANGL1 TMEM70 MT-TL2 GFER UCP2 TRIP13 MYPN SBDS NFKBIA BUB1B CLDN10 OVOL2 ATP6V1B1 CDH11 MTMR14 GLE1 AVP POLR3A GHSR KCNJ18 PDE4D MFN2 GNAQ PDSS1 ABL1 DSP TRMT10C FLNC TNFRSF1B TPRKB CLRN1 ALG8 PAX2 SLC35D1 CYBA NOTCH2 SIM1 ELAC2 CPS1 SLC11A1 HERC1 LHX1 CLCF1 NIPBL SCARB2 IGSF3 ARL2BP SAMHD1 NPAP1 CNOT1 CDK5 P4HTM PRPF3 FIG4 SMC3 MDH2 CYP19A1 NRXN1 ACTA1 NIPAL4 MLXIPL FARS2 NUP107 IGF1 IKZF1 UBAC2 PAK1 ABCC2 RARA RB1 EGFR TLR3 RDH5 NDP AHI1 AK2 FIP1L1 ISCU EIF2B2 SAG HTR1A HLA-DPA1 LRRC8A SHPK TLR4 HLA-A CNBP TRAPPC9 RMND1 CYP21A2 COA6 CHEK2 PKHD1 ETFB ACADS TMPRSS15 WNT7A GTF2I KLHL41 BMPER DHX38 ATP13A2 DNASE1L3 IL10 IFNGR1 SPR SHH IARS2 INHBA SLCO1B1 STAC3 DNAJC21 SCYL1 TMEM260 DUX4 MKRN3 EDN3 FN1 PTPN3 GHRL IRS2 TERC ABCD4 ITPR3 MYO1E TH ARNT2 STING1 GFM1 PTPN14 DNAJC19 ROM1 TBL2 NAXE POLD1 HBA1 RBM8A CA12 RFX6 TCF3 ARHGDIA IL1RN FSCN2 LDHA IMPG2 SUFU BTK SARS2 CD55 USB1 ACAD8 TEK NFU1 ACTB PEX1 FDX2 HP_ABNORMAL_ENERGY_EXPENDITURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENERGY_EXPENDITURE ADRB3 PPARG SDC3 AGRP GHRL CARTPT POMC NR0B2 ADRB2 NGLY1 ENPP1 UCP3 HP_ABNORMAL_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLYCOSYLATION DPM1 ATP6V1A COG1 PGM1 DDOST TMEM199 ATP6V0A2 MGAT2 MPI ALG3 ALG11 ALG13 DPM2 COG6 COG5 DPM3 ALG6 COG4 ATP6V1E1 RFT1 FKTN STT3A DPAGT1 DOLK COG2 SSR4 MAN1B1 CAD SRD5A3 STT3B SLC39A8 ALG8 ALG1 PMM2 COG8 CCDC115 SLC35A2 HP_ABNORMAL_PROTEIN_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_GLYCOSYLATION DPM1 ATP6V1E1 ATP6V0A2 ATP6V1A RFT1 COG1 PGM1 ALG11 DDOST DPAGT1 TMEM199 DOLK MGAT2 MPI COG5 ALG3 SSR4 MAN1B1 SRD5A3 ALG13 SLC39A8 ALG8 DPM2 ALG1 PMM2 COG8 COG6 DPM3 ALG6 COG4 SLC35A2 HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION TMEM199 COG4 DPM3 DPM2 SLC35A2 HP_DECREASED_URINARY_POTASSIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINARY_POTASSIUM CYP11B2 SLC12A3 KCNJ18 CACNA1S CLCNKB GABRA3 HP_FLAT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FACE PEX14 LOXL3 FGFR3 CHST3 GPC6 FLNB COL9A3 PEX11B TUBB GATA1 ATP6V0A2 PEX16 SOX9 AMMECR1 SMC3 PAX3 GUSB PDE4D GNPTAB FGFR2 COL2A1 ATRX B3GALT6 COL9A1 TWIST1 BPNT2 CDCA7 PEX26 ADAMTS3 HSPG2 PEX12 KMT2A EHMT1 TMEM70 PEX1 SMC1A PEX5 TBX22 DNMT3B FLNA ZBTB24 COL11A1 PEX6 SLC39A8 EBP MN1 BRPF1 FAT4 TMCO1 DCPS CDH1 PEX19 CAMK2G CDH11 LONP1 B3GAT3 PEX2 PEX10 MAN2B1 HELLS MAPRE2 KIAA0753 PAK3 DVL1 ROR2 PPP2R3C MYH3 PEX13 SLC26A2 CCBE1 COL9A2 TRIP11 CTNND1 PEX7 SUMF1 XYLT1 PEX3 TAPT1 WNT5A MAF PRMT7 PLOD3 MATN3 DVL3 COL3A1 AMER1 HP_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIANOPIA ARSG BAP1 MT-ND5 TERT MT-CYB SMO MT-TV PDZD7 MT-CO2 MT-CO1 MT-TF MYO7A CIB2 MT-TW CLRN1 SETD5 CTNNB1 ESPN TUBB2B GNAQ MT-TC CDH23 AIP PDGFB PIK3CA BRAF MT-TS2 MT-TQ MT-TK MT-TL1 SMARCE1 CEP78 TRAF7 SMARCB1 USH2A SUFU PCDH15 MT-ND6 MT-CO3 USH1C USH1G AKT1 ADGRV1 HARS1 MEN1 NF2 WHRN MT-ND1 HP_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUE PFN1 SOX3 ATRX VHL LBR BIRC3 BLNK GNAS CD79A SH2B3 STAT5B EPCAM NF1 MEFV IL12A-AS1 CTLA4 MLX PON1 PNPLA8 RPL5 RUNX1 KCNQ1 RRM2B GPR35 ELANE PPARGC1A GLA DBH CCR1 MLH3 XPC MSH2 CCND1 KLRC4 ATP7A KCNQ3 PSTPIP1 PALLD HLA-B TCF4 CDKN2A BCOR ALB AGK GBA NEK1 CFI IRF2BP2 ALAS2 MRAP OPTN MYD88 CAV3 NKX2-1 BCL2 CCDC78 PALB2 C9orf72 UNC13A DNAJC6 SDHA SMAD4 TBX19 C4A ATM PDE8B RPS28 NUMA1 SCN8A MMACHC NFKB2 PRKAR1A MST1 HBA1 RPL11 SLC25A11 SCNN1A ERBB4 UBQLN2 SLC18A3 PODXL HFE SQSTM1 ARMC5 HLA-DPB1 PRRT2 MET NPM1 SLC26A4 NAGS FAS CCNF TSHR STAR SDHD IL12A SPIB PREPL RET POU1F1 WIPF1 DLST LHX4 TSC1 HNF1A TET2 DCTN1 STEAP3 FOXE1 TREM2 NABP1 FGFR1 PYGM HESX1 WAS SLC5A5 INSR NEFH KCNN4 IL23R SOD1 ERAP1 RPS27 RPS7 FOXP1 STAT6 CALR CFH DMPK DUOX2 BRCA1 VCP TARDBP GCK DYSF TBL1XR1 MSH6 PMS1 COL1A2 ACADM BCR SDHB IGLL1 MEN1 EPOR PRTN3 UNC93B1 MDH2 DNMT3A BRCA2 JAK2 HMGCL DDB2 RPS17 CHMP2B CFAP410 IL12RB1 PAX8 CPT1A ERCC2 RPL35A MMEL1 RPS20 PRKACA COL5A2 RPL31 PYGL RPL15 IRF5 NKX2-5 HLA-DRB1 EPHA4 ABL1 ERCC4 RPL27 DNM1L SLC25A4 SMAD3 HAVCR2 OPA1 PLEC KCNE1 CBL KIT ATP13A2 RPS24 PGM1 DAO GATA1 NAB2 SDHAF2 DMD PDGFRA PMS2 ERCC5 SLC11A1 PON2 CPT2 IGHM RPS26 PROP1 PML PIGT AP2S1 SCNN1B HNRNPA1 SLC18A2 POMGNT1 COQ2 RPL26 RPS29 SDHC MALT1 FUS FH SCN2A GLE1 C1QBP GPR101 LHX3 MATR3 RPS10 PON3 CHRND BCL10 BCL6 ZBTB16 AIP GLT8D1 TAZ TGFBR2 KRAS SERPINA6 TWNK IKZF1 UBAC2 ABCC2 RARA MORC2 MYH7 ANXA11 POLG EPAS1 CDH23 SLC2A10 PTPN22 TFR2 SEMA4A POLG2 GCH1 PROKR2 KCNQ2 TLR3 TAF15 TRAF3 FIP1L1 ASXL1 CDC73 SOX2 TNPO3 ATXN2 TXNRD2 MT-TK HLA-DPA1 LRRC8A MPL TSC2 DUOXA2 TLR4 CTNNB1 PIK3CA NLRP3 FAN1 PIGA TICAM1 RPS15A NR3C1 TPO XPA BMPR1A ERCC3 KIF23 TBK1 TSHB MC2R TK2 IL10 IL12B RPL18 STAT4 MMADHC POU2AF1 FIG4 STAT3 VPS13A PRPH TSR2 NNT HNF4A TP53 COL5A1 BTNL2 GLI2 FOXA2 CHCHD10 PTPN3 TMEM127 CD79B GATA2 MLH1 ADA2 SRSF2 SLC12A3 ARNT2 IYD TG SLC3A1 PHKG2 PDE11A COL1A1 ANG VAPB SLC40A1 OTX2 RPL35 HELLPAR MAX KIF1B FGF23 TCF3 PIEZO1 PIK3R1 PHKA2 SLC25A26 TNXB RPS19 CD46 BTK SLC4A1 SYNJ1 FTL TNFSF15 SCNN1G USP8 HBA2 HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY PIGY CCDC47 CASR GLB1 TCIRG1 HNRNPA1 ESR1 SUOX TP53 LARGE1 NADK2 GSS OGDH PGAP3 SLC39A4 PCCB LCT GPR35 FGF23 CPA1 ABL1 DPYD CYP2R1 HADH POMGNT2 HSPG2 ABCB4 PRKCSH GALC COG4 ALDOB ABCB11 MT-ND1 SPINK1 AKR1D1 COLQ CEBPE TCF4 CYP27B1 GATA1 CFI PRSS2 XDH ZNF687 CAT NPC2 PKLR GBA PCCA MAN2B1 ALDH2 DMGDH FAM20C MT-ATP6 ACADL PIGW RPL15 POMGNT1 MMACHC PIGA RB1 OPLAH MST1 PNPLA2 CFTR SLC2A2 ANO10 CYP7B1 DPYS GNPTAB SPP1 TNPO3 PLEC MOCS1 PIGO APRT TNFRSF11A ALPL FBP1 SLC25A13 POMT1 BCR PRPS1 USB1 MT-ND5 ADA HADHA SOST DMP1 PIGV HNRNPA2B1 NPC1 CHEK2 SPIB PHEX PGAP2 RHAG INPP5K GPC1 SIL1 FH TMEM199 MMAA MTR SC5D MOCS2 LMBRD1 FLI1 TRPV6 PIGT MMAB ALDH5A1 NCF1 FKRP STAT4 SQSTM1 SLC34A1 COL4A1 CRPPA SEC23B KCNN4 PLEKHM1 POU2AF1 LBR CALR VDR CFH MPL UMPS ENPP1 PIGL HNF4A RXYLT1 TNFRSF11B CTRC CYBA CTSA ELMO2 PRSS1 ACADM FKBP10 RPS29 IRAK1 ABCD4 IL12A CCDC115 POMK GNPTG JAK2 ASPA NCF2 MT-ND4 DAG1 IL12RB1 SIK3 MT-TL1 GPI PRDX1 MT-ND3 VCP HELLPAR MT-TK MT-TW POMT2 B4GAT1 MT-ND6 MMEL1 SGMS2 MT-ND2 PIEZO1 PTH1R MCM6 PLA2G7 CYBB PIGS HBB FKTN IRF5 CDAN1 MYC GPHN ACAD9 SLC7A7 FXN MT-TV B3GALNT2 PSAP RPS14 CLCN7 CD46 SLC4A1 MTRR BTD HNF1B LAMB2 TNFSF15 MMADHC BCHE MCCC2 RPS19 TGFB1 SLC34A3 TET2 PAH ASAH1 HP_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHINITIS RSPH1 SPAG1 FOXJ1 MCIDAS ELANE RSPH4A SRP54 IDUA GAS2L2 GAS8 DNAH1 CCDC151 DNAL1 TTC25 CFAP221 ZMYND10 SLC29A3 DNAAF1 RPGR RSPH9 STK36 EDA DNAH9 DNAAF5 COX4I2 DBH OFD1 DNAH5 HYDIN IL4R NME8 TTC12 TNFSF11 PGM3 DNAI2 CCDC65 CFAP298 RAG1 PLCG2 CFAP300 LRRC6 DNAI1 TCIRG1 DNAJB13 RFXAP EDARADD SPEF2 CCDC40 RAG2 SIK3 CCDC39 ARMC4 RFXANK DNAAF2 DRC1 NEK10 CIITA SPINK5 RSPH3 CARMIL2 CCNO PLA2G7 DNAAF6 SNX10 CCDC114 CCDC103 CLCN7 LRRC56 DNAAF4 MS4A2 RFX5 DNAAF3 GFI1 DNAH11 HP_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHITIS RSPH1 SCNN1G CD79A ICOS SPAG1 TAP1 FOXJ1 MGP MCIDAS CRLF1 RPGR NFKB1 GAS2L2 GAS8 DNAH1 CCDC151 CD19 ZBTB24 DNAL1 MS4A1 CD79B CFAP221 ZMYND10 CD81 DNAAF1 RNF168 RSPH9 ATM STK36 DNAH9 DNAAF5 OFD1 RSPH4A TNFRSF13C DNAH5 DNMT3B HYDIN NME8 TTC12 IL17RA TNFRSF13B CCDC65 NOS1 CFAP298 CFAP300 LRRC6 CACNA1C TAP2 CFTR DNAI1 DNAJB13 SPEF2 CR2 CCDC40 HLA-DQA1 CCDC39 ARMC4 TTC25 DNAAF2 DNAI2 DRC1 NFKB2 NEK10 RSPH3 CARMIL2 EGFR TNFSF12 CCNO TAPBP SCNN1A NBN DNAAF6 SCNN1B CCDC114 CCDC103 GNPTAB LRRC56 DNAAF4 PRKCD DNAAF3 IL2RG HLA-DQB1 DNAH11 HP_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGY MTOR TGM5 COX4I2 PLA2G7 NRXN1 BBS1 CHD1 ADA CNTNAP2 IL4R FOXP3 SIK3 FOXP1 ARL6 MS4A2 RBM8A PGM3 CCDC28B CSTA IL6ST PLCG2 CTLA4 SPINK5 CARMIL2 HP_AORTIC_ATHEROSCLEROTIC_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ATHEROSCLEROTIC_LESION APOB CYP7A1 ABCG8 APOE LMNA LDLRAP1 ABCG5 PCSK9 LDLR HP_PERIPHERAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_EDEMA FLNC KIF1A FSHR KIF20A TNNI3 MYPN TNNT2 ZNHIT3 HP_ABNORMAL_ALDOLASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ALDOLASE_LEVEL RXYLT1 POMK FKTN LARGE1 POMGNT2 INPP5K HSPG2 POMGNT1 SIL1 POMT1 FKRP B3GALNT2 TGFB1 POMT2 B4GAT1 COL4A1 ALDOB DAG1 CRPPA HP_PREMATURE_PUBARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_PUBARCHE MKRN3 MEN1 TANGO2 HSD11B1 AIP HSD3B2 PAPSS2 HP_ABNORMAL_BLOOD_GAS_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GAS_LEVEL GATA6 GDNF HBB RYR1 SMPD1 CACNA1S SLC35A1 ASCL1 ZFPM2 EDN3 RET PHOX2B CSF2RA FBN1 FGFR3 CSF2RB HP_OPTIC_DISC_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_DRUSEN ABCC6 TMEM98 XYLT2 MFRP XYLT1 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER MT-CO2 STRADA ZEB2 MT-ND6 MT-CO1 MT-TF MT-TW MT-TS2 MT-TQ KDM1A NRXN1 MT-ND5 PSAT1 MT-TL1 MT-ND1 MT-ND4 SLC2A1 MT-TH CNTNAP2 TMX2 NACC1 MT-CO3 HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA STRADA PSAT1 SLC2A1 KDM1A CNTNAP2 TMX2 NACC1 NRXN1 HP_CHRONIC_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_FATIGUE STAR MRAP SMAD4 MC2R BRCA2 PALLD TK2 CDKN2A SMAD3 PALB2 BRCA1 NNT TP53 KRAS TXNRD2 HP_ABNORMAL_SOCIAL_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOCIAL_BEHAVIOR NLGN4X SHANK3 RARS1 CAMTA1 PINK1 SLC6A8 TET3 LIMK1 NDUFAF5 RFC2 PIGH MPLKIP MICOS13 TSC2 PSAP TOMM40 NTRK2 GTF2I SORL1 MT-ND2 TREM2 NDUFAF3 CLP1 ALG11 POLA1 IQSEC2 ELN ALG13 FRMPD4 EXTL3 SMG9 MT-ND3 PSEN1 HERC1 GRIN1 CACNA2D2 CLIP2 NLGN3 SETD2 SYNJ1 ADSL MED13L SETBP1 GABRA1 UCHL1 FMR1 NDUFA6 GTF2H5 TUBB3 KCNT1 AP4S1 GRIA3 NEUROD2 ERCC3 SNCA CDKL5 MEF2C NDUFS2 CACNA1H NDUFV1 AP4B1 SH2B1 NDUFS3 RLIM NDUFV2 PUF60 AP3B2 IREB2 SYT1 NDUFS4 FOXG1 AP4M1 ADNP TWNK PODXL RAB11B JRK NDUFA1 UGP2 ERCC2 GABRB3 NDUFA11 SLC25A1 CNTNAP2 GTF2E2 NDUFB11 ACOX1 AGTPBP1 RNF113A COG6 NDUFS1 PRKN PIGP PSEN2 DPYD LRRK2 TARS1 DOCK7 ABCA7 NRXN1 NDUFAF1 APP MED12 MECP2 AP4E1 GFM1 CUX2 GABRG2 TIMMDC1 NDUFAF8 NDUFB10 DEAF1 NDUFAF2 TSC1 TBL2 C12orf4 NALCN FLCN VPS13C PCDH19 SNRPN NDUFB3 ARSA NDUFS6 NDUFB9 ST3GAL3 FOXRED1 NDUFA13 PARK7 GPHN TBR1 HTRA2 BAZ1B MT-ND1 NDUFAF4 ARFGEF2 UBA5 EBP SLC2A1 FOXP2 NEXMIF SLC25A12 NONO GTF2IRD1 SPATA5 NDUFS7 NDUFS8 TMEM126B TBC1D23 DNAJC6 ITPR1 NUBPL HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY RFXANK LONP1 JAG1 RFXAP RNF43 SPIB NPHP3 FARSB MKS1 GPC1 PEX2 PSAP TMEM67 INPP5E IL36RN STK11 IL21R GATA6 IL12RB1 BCS1L RPGRIP1L POLG RFX6 FCGR2A MMEL1 DCDC2 CIITA GPR35 CC2D2A MST1 ZIC3 ABCB4 CEP290 TGFB1 IRF5 CLCA4 POU2AF1 LBR USP9X ARSA SCARB2 PEX5 RFX5 CLDN1 TTC7A DCTN4 TNPO3 CD40LG PHKG2 ERCC4 LMNA CFTR GCGR GBA TNFSF15 HSD17B4 TCF4 PEX1 ITCH PTPN3 TMEM216 IL12A STX1A WDR35 HP_BRAIN_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_ATROPHY CAMTA1 SLC1A4 GLB1 LMAN2L CLN6 KIF7 NKX6-2 FMR1 KCNAB2 TOMM40 GBA SLC13A5 SCN8A RAB3GAP1 CLP1 NDUFV1 OSTM1 PLPBP SACS MOGS ATRX NDUFV2 ADSL MAPT SLC1A2 MED25 TRAK1 MTRR RNASEH2A TERT RAB3GAP2 CHMP2B WWOX NFIX MT-ND4 ALDH7A1 VPS13A NUP62 GIGYF2 WDR45 USH1C DYNC1I2 HRAS RNF113A SETBP1 ZC3H14 SLC35A2 L2HGDH PIGQ UCHL1 PCCA DHFR CACNA1B ALDH18A1 TRAPPC12 KMT2D TIMM50 BRAF MAG TREX1 AGA SEPSECS RAD21 SERAC1 EXOSC9 SLC39A8 GABRG2 SQSTM1 KLHL7 WFS1 SLC39A14 PEX7 TRAPPC9 RAB23 VARS1 RAB18 NDUFA11 TBC1D20 TPP1 MPLKIP MED23 GMPPB NTNG1 MFSD8 TRAPPC11 BCAP31 DGUOK ACTL6B SCN1B HSD17B4 EEF1A2 KCNB1 USH1G GTF2IRD1 CLPB LIAS HNRNPA2B1 GPKOW SLC2A3 HACE1 TARDBP DNMT1 NDUFS2 RARS1 KCTD7 PLA2G6 TTC19 ERCC6 MTR TK2 SLC9A6 LRRK2 MUC1 CLTC TGFB1 ALG13 SPG7 ITPA GALC CLIP2 COG6 ERCC2 AP1S2 PLK4 PIGP ERCC3 PLAA FRRS1L TRMT5 UBA5 TAF2 KDM5B NANS DMPK GNAO1 ADAR TBCK PCK1 IFIH1 CARS2 RNF125 PGAP1 DOLK MAN1B1 UGP2 PARS2 IQSEC1 IRF2BPL MT-ND6 TBC1D24 VPS53 TMCO1 POLG LMNB1 COL18A1 DDB2 APP ATXN7 ERCC4 PSEN1 BCS1L SCN9A NDUFS1 TANGO2 KCNA1 PRDX1 KIDINS220 ELOVL4 NAA10 HECW2 KMT2A HUWE1 PIGT FGF12 NDUFAF3 SHH TREM2 PSAP SCN2A SLC35C1 TIMM8A CRBN GDAP2 HIVEP2 CYB5R3 EIF4G1 PDHA1 NUS1 KCNA2 QARS1 ATP6AP2 MMADHC DNM1L MT-TL1 HDAC8 SLC33A1 TRIT1 ASAH1 C9orf72 DNM1 GLUL CHCHD10 RTTN SCN3A STXBP1 NDUFB8 AIFM1 GBA2 NGLY1 MAPK8IP3 POLA1 UBTF MT-TF ERCC5 RPS6KA3 GRIN1 ZNF335 PIGL B3GLCT KCNT1 FUS PRDM16 ERCC1 MEF2C NEUROD2 B4GALNT1 PUF60 PPP2R2B MT-ND1 SPG11 COG4 SCN1A SLC45A1 SBF1 AP4M1 CAD GRID2 LAGE3 HNF1B NAXD TUBGCP4 PIGG NACC1 RFT1 SLC2A1 PRKDC HTRA2 ADPRS ALG9 GABRA1 RNASEH2B COG1 UBE3A MAN2B1 PPT1 RNF216 MARS2 MED17 MYO7A MECP2 NHLRC2 MMACHC MBTPS2 TMEM106B ABCA7 IKBKG SLC39A4 ADAT3 COG2 FGFR3 BAZ1B MT-TS2 PAFAH1B1 CYFIP2 VPS35 TOE1 TRAPPC2L PCYT2 C12orf4 PCDH15 ARX RHOBTB2 GRN ACTG1 GRIN2D EPRS1 MVK CASK TYROBP GLYCTK TNIK PGAP2 ATN1 BSCL2 SLC17A5 VCP ALG3 YWHAE POLR3B RTEL1 TBK1 MAP2K2 FMN2 ROGDI CACNA1E PRKAR1B AP4S1 PIGV DKC1 ALS2 FH KIF1C KANK1 PUS3 TSEN15 CDC42 ALG1 SLC25A15 SETD5 OTUD6B PNKP ATXN2 B3GALNT2 NDST1 DOCK7 POGZ NDUFA9 PRNP CNTNAP2 ACY1 HIC1 GABRD ADK TBCD COLGALT1 TRAPPC4 SLC25A22 WDR73 SUMF1 GABRA5 PARN TMX2 IARS2 SYNJ1 GM2A TXN2 TDP1 EXOSC8 AARS1 PHACTR1 OSGEP GLE1 CCDC47 HEPACAM DNAJC13 LIMK1 SUCLA2 MYO5A NOTCH3 COG7 SPTAN1 ELN CNKSR2 STAG1 VPS13C PCCB CPLX1 GNAQ ADGRV1 DPYD TRNT1 DYRK1A UFM1 ZNF592 XPC PPP3CA ERCC8 AP4E1 KIF1A USH2A HSD17B10 MT-TQ FADD RARS2 GABRA2 SCO2 CLIP1 PSEN2 SRCAP VPS33A ZC4H2 TSEN2 FLI1 LIPT2 GJC2 FKRP TMEM70 MT-CO3 DNAJC6 NTNG2 NADK2 UNC80 AP3D1 PIGN FBXO31 PRUNE1 MBOAT7 SKI TRAPPC6B TBP CISD2 PODXL DHX30 CNTNAP1 STAMBP HERC1 CLN3 MAF COQ9 SMC1A TECPR2 MT-TH CACNA1A DARS2 RFC2 DMXL2 KCNQ2 MOCS2 BICD2 ZNHIT3 FRMPD4 NECAP1 DSE KCNMA1 SZT2 LYRM7 OPHN1 FBLN1 FUCA1 ST3GAL5 SUCLG1 PRSS12 GUF1 AP4B1 AP3B2 EPM2A YWHAG MT-CO1 SLC12A5 TRRAP MT-ND5 RSRC1 JPH3 ST3GAL3 ACD EMC1 EPG5 EHMT1 PCDH19 TARS1 OCLN TUBGCP6 MT-ATP6 TCTN3 RNASEH2C PYCR2 CDKL5 TUSC3 AIMP1 MT-CO2 PIGS DHDDS GPHN CLCN4 USP9X EDC3 SPECC1L CTNS DNAJC3 BMP4 HCN1 DOCK6 SON TPRKB SYNGAP1 OPA1 ACO2 ATP13A2 CTSD HNRNPA1 ATP6V1A FGFR1 EMX2 PEX19 CRADD POLR3A ALG11 ASPA LINS1 SMG9 SURF1 LHX1 WIPI2 NIPBL NAGA GTF2H5 PANK2 HTT CTDP1 WARS2 ATP8A2 AUH SERPINI1 ADNP NTRK2 SAMHD1 SNX14 TP53RK WHRN SMC3 GTF2E2 NALCN SIX3 CIZ1 AIMP2 FARSB RERE DCPS NRXN1 CLN8 PDZD7 KRAS WDR81 GRIN2A CYP27A1 PCLO FARS2 PIGC CYB5A TWNK TRAF7 GABBR2 PIGA MORC2 SARS1 SPG21 YME1L1 MAP2K1 EXOSC3 CC2D1A AMPD2 NDP TRIM8 ASXL1 POMT2 MOCS1 REPS1 PNPO CDH23 FOXP2 SHPK EZR RMND1 NSUN2 SNCA SC5D GRIK2 GTF2I XPA SORL1 PSPH NUP214 ATAD1 COG5 IBA57 NHLRC1 TSEN54 ARV1 ACER3 PQBP1 GRIA4 CTSF NDUFA2 MT-TW SCYL2 ABCD4 MPDU1 NEXMIF GOT2 FBXL4 GFM1 GABRB2 HNMT SIK1 METTL23 WASHC4 STX1B TBL2 NAXE CIB2 FA2H ESPN PEX16 STUB1 NDE1 TECR POMT1 BTD KDM6A SPATA5 ACTB TINF2 LARGE1 HP_ABNORMAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELINATION GNB1 HACE1 PIGY VPS11 NDUFS1 SLC6A8 LIPT1 MPLKIP ELP1 EIF2B4 NKX6-2 PSAP PMP22 GNB4 NARS2 SLC13A5 SURF1 ARHGEF10 POLR3B MT-ND2 RNASEH2C NEFL COG7 ERCC3 SPTAN1 NUBPL CLP1 NDUFS8 CNKSR2 NADK2 SACS SLC1A2 ECHS1 PDYN NDUFS7 ADSL BOLA3 EGR2 NGF TYMP COX7B SCN8A MPZ MTRR PNPT1 SYNJ1 RNASEH2A RAB3GAP2 HLA-DRB1 WWOX MT-ND4 TRAK1 PPP3CA NDUFS3 PET100 NDUFV2 ERCC8 NDUFAF2 IREB2 PHGDH MTHFS WDR26 ABAT MT-TQ MPV17 HLA-DQB1 TAF13 TAF2 GAN SNIP1 GABRA2 SCO2 NDUFS2 NDUFB11 HK1 EGF SLC25A22 RNF113A SLC35A2 TMTC3 L2HGDH PIGQ VPS33A GATAD2B TBCD ZC4H2 PEX1 DHFR LIPT2 UFC1 INSR TIMMDC1 GJC2 NDUFAF8 NDUFB10 CACNA1B MT-CO3 C2CD3 TREX1 SEPSECS AP3D1 PURA FLCN BCS1L PRUNE1 RERE ARSA KDM1A PLP1 MME NDUFS6 FA2H APTX PEX7 FOXRED1 NDUFV1 LRPPRC RAI1 RFC1 COPB2 GEMIN4 NDUFAF4 DHX30 MTMR2 TRAPPC11 RNASEH2B BCAP31 STAMBP MTTP SDHA GLRX5 ERCC4 FAM126A JPH1 HSD17B4 EEF1A2 LMNA KCNB1 MT-ND5 SLC2A1 SPTBN4 MT-TH NDUFAF3 LIAS PIGV ZFYVE26 TMEM126B CTC1 SLC19A3 CACNA1A DARS2 TFG DNMT1 RARS1 GPT2 DMXL2 C12orf65 NTRK2 GABRG2 TUBB4A ERCC6 SELENOI MOCS2 RNF13 ATP7B ARNT2 NDUFA12 CLTC TGFB1 PLEKHG5 ALG13 FRMPD4 ITPA GALC TXN2 NECAP1 SZT2 ISCA2 KLC2 PIGP AARS1 PLAA INF2 TRMT5 WNK1 UBA5 GNAO1 ADAR RETREG1 STXBP1 IFIH1 SYT1 SOX10 YWHAG MT-CO1 ERCC2 SLC12A5 TRRAP RAB11B NDRG1 PARS2 IDUA MT-ND6 CNNM2 GAA KCNA2 TARS1 LMNB1 COX15 AHCY PPP2R1A NDUFA10 MT-TL1 KCNA1 MT-ND3 EIF2B1 NTRK1 KIDINS220 POLR3A PYCR2 ELOVL4 CDKL5 MT-TW SBF2 MTFMT NDUFB3 DAG1 PPP1R15B NDUFA2 PIGN MT-CO2 FGF12 DHDDS CLCN4 AHDC1 INTU NDUFA4 NGLY1 NEUROD2 CYB5R3 MAT1A PGAP1 BMP4 SNORD118 PMP2 HCN1 QARS1 NDUFA9 SLC25A12 NR2F1 PMM2 TPRKB SYNGAP1 PGAP2 HSPD1 SLC33A1 DNAJC3 ACO2 DNM1 OSTM1 SHANK3 ASNS KMT2E NDUFAF6 SH3TC2 NDUFAF5 EIF2B3 GLUL ATP6V1A SCN3A NDUFB8 PEX19 SLC1A4 GDAP1 ACTL6B POLG MAPK8IP3 ALG11 NUP188 UBTF ASPA MT-TF SMG9 NDUFA13 ZNF335 PLEKHG2 ISCA1 ABCA1 GCDH SPATA5 GTF2H5 KCNT1 MRPS22 YY1 DHH MANBA GMNN MT-ND1 HNRNPU SPG11 RRM2B DCAF8 TUFM CTDP1 WARS2 ZFR ALDH3A2 SBF1 EDNRB SAMHD1 NACC1 DNM2 SCN2A PC RAB7A MMUT SLC25A1 GTF2E2 ACOX1 TRIM2 PRKDC ALG9 CASK TRMT10A MDH2 GLS AIMP2 PDCD1 FIG4 CTNNB1 SLC12A6 ASXL1 MAN2B1 COQ7 KIF5A HTRA1 AFG3L2 SP110 MT-ATP6 GRIN2A CYB5A CNTNAP1 UGDH PAK1 PIGA AIFM1 FCSK MORC2 PRMT7 COX10 MFN2 ADAT3 COX6A1 GTPBP3 MT-TS2 CYFIP2 EIF2B5 NDUFS4 GJB1 TRIM8 EIF2B2 MOCS1 TRAPPC2L EXOSC2 IER3IP1 SHPK AP3B2 ARX RHOBTB2 PRPS1 PSAT1 RMND1 EPRS1 NUS1 GLYCTK TYROBP ERCC5 TACO1 TBC1D24 AIMP1 GRIN2D CSF1R FGD4 HARS1 LMX1B DEGS1 BRAT1 GFAP POGZ SLC30A10 ZNHIT3 COG5 PRX NDUFA6 FOXP1 RNF168 D2HGDH ADGRG1 TMEM106B PIGO IBA57 KIF1A ARV1 ACER3 KIF1C PIGL TKFC FOXG1 DARS1 BRPF1 NDUFA1 PDHA1 ADAMTSL1 NDUFA11 CLTCL1 HIKESHI PNKP ATXN2 DDOST NDUFAF1 FBXL4 GFM1 GABRB2 LITAF PEX13 PPP2CA KIF1B ALDH6A1 SIK1 FLRT1 ACY1 DHX37 PIGW RBM8A MT-TK TBCE PEX16 SCN9A NDUFB9 MARS1 POLR1C SUMF1 UPB1 MT-TV HSPB8 GABRA5 KCNJ10 ARF1 PGAP3 MCOLN1 RNASET2 PIGG SCN1B BAG3 PHACTR1 SLC16A2 HP_DELAYED_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MYELINATION GNB1 GLYCTK VPS33A HACE1 SHANK3 VPS11 ASNS KMT2E TBC1D24 SLC6A8 DMXL2 NTRK2 STXBP1 ADAT3 RNF13 NGLY1 LMX1B LIPT1 RNASEH2C MAPK8IP3 COG7 ARNT2 CLP1 ALG11 NUP188 PPP1R15B TGFB1 ALG13 FRMPD4 ITPA SMG9 BRAT1 ZNF335 TXN2 POGZ COG5 ISCA1 GCDH FOXP1 PIGP KCNT1 MRPS22 D2HGDH COX7B YY1 MTRR PIGV PLAA PNPT1 TRMT5 GMNN TAF2 ERCC6 HNRNPU PPP3CA WARS2 GNAO1 ACTL6B TKFC IREB2 SYT1 FOXG1 PHGDH MTHFS SLC12A5 NACC1 TRRAP KDM1A RAB11B SCN2A TAF13 MMUT ADAMTSL1 CLTCL1 SLC25A1 SLC25A22 SLC35A2 ALG9 CASK TRMT10A HIKESHI MDH2 GLS PIGQ GATAD2B PNKP CTNNB1 PRPS1 ZC4H2 ASXL1 FBXL4 GFM1 DHFR MAN2B1 LIPT2 UFC1 PPP2CA AHCY PPP2R1A KIF5A ALDH6A1 SIK1 WWOX ACY1 KCNA1 SEPSECS DHX37 RBM8A CYB5A AP3D1 KIDINS220 UGDH TBCE ELOVL4 PAK1 PURA FLCN CDKL5 PIGA AIFM1 PRUNE1 RERE FOXRED1 PRMT7 PIGN PEX7 AHDC1 COPB2 SLC13A5 GEMIN4 CLCN4 UPB1 NEUROD2 DHX30 CYB5R3 PGAP1 BMP4 TRIM8 SLC2A1 STAMBP TRAPPC2L EXOSC2 ARF1 UBA5 IER3IP1 ARX RHOBTB2 NR2F1 PMM2 PSAT1 SCN1B RMND1 PHACTR1 SLC16A2 HP_CHRONIC_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_CONSTIPATION OTUD6B SH2B1 RAI1 ATRX SMO DNAJC13 GATAD2B WASF1 TRIO SNCA MED13 ELN B2M NRXN1 PCGF2 ADAT3 GBA VPS35 CNTNAP2 MLXIPL NGLY1 LRRK2 EIF4G1 ADNP GIGYF2 MLYCD MNX1 SETD5 UGP2 TBCD POGZ USP7 FGF12 UBE2A HP_RESTLESS_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESS_LEGS PINK1 PODXL PARK7 LRRK2 SNCA HTRA2 VPS13C ATXN7 MFN2 FTL SYNJ1 UCHL1 PRKN DNAJC6 HP_INFANTILE_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_SPASMS CASK TANGO2 PIGQ PNKP SPTAN1 DMXL2 DOCK7 TSC2 STXBP1 MT-ND4 SLC1A4 NGLY1 TSC1 CDKL5 IFNG SIK1 ZNHIT3 SCN2A STRADA MT-TL1 MT-ATP6 NTRK2 SLC25A22 KCNA1 DHX37 MT-ND3 MT-TK WDR45 MT-TW MT-ND6 MT-ND2 PIGP FBLN1 GRIN2B CLCN4 MT-TV NEUROD2 PIGA ST3GAL3 NDUFAF8 TRIM8 PHACTR1 SLC19A3 GUF1 CNPY3 HIBCH MT-ND1 KIF1A PLCB1 ACTL6B ARX GNAO1 MT-ND5 SCN1B SPATA5 ALG13 ASAH1 TUBA8 SLC35A2 HP_THICK_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_VERMILION_BORDER SNX14 ABCC9 SMS RSPRY1 CAMTA1 LIMK1 PHGDH PPP1CB CLCN4 ARID1A ACSL4 RPS24 INSR NAGA SMARCC2 GATA1 EDAR AMMECR1 STRADA KIFBP ARID1B TSPEAR FTSJ1 A2ML1 TCF4 LTBP3 COG7 SMARCD1 RRAS2 KIF11 ELN RPS6KA3 UPF3B BRCA1 SMG9 RPL5 PIGL ADAM22 ATRX AMER1 RPS26 CBL RAB39B HCFC1 PUS7 EDA ARHGEF6 YY1 SHOC2 ORC6 GMNN CDKL5 RPL26 GLA GNS RPS29 DYRK1A NFIX CXorf56 SOX11 AUTS2 RAF1 COL11A1 ADNP TRAF6 ADAMTS2 GPR101 ARX FLNA P4HTM RPS10 FIBP EIF2S3 IL1RAPL1 DENND5A HRAS SMARCA2 TONSL KCNH1 EDARADD VPS33A AP4S1 MRAS RPS7 MLXIPL AIP SMARCB1 MECP2 AFF2 AGA OFD1 CNTNAP1 UGDH GABBR2 CNKSR2 ORC1 RPS28 NF1 NEU1 MID2 PSMB8 MCM5 KDM6B NRAS RPL11 PTDSS1 HNRNPH2 BAZ1B SMARCA4 DOCK7 TSPAN7 NTNG1 TOE1 SIN3A FBN1 RBMX MOCS1 TWIST2 LARP7 NONO GTF2IRD1 SOS2 DPF2 PTCHD1 CUL4B KDF1 RFC2 RPS15A CDH11 ADAT3 SC5D SRD5A3 MOCS2 GTF2I IDUA FOXP1 USP27X RASA2 STXBP1 APC KCNE5 ANKRD11 KIF15 WDR26 CUL7 CLIP2 RNU4ATAC ANTXR1 FRMD4A ZBTB20 KREMEN1 RPL18 FUCA1 MYCN GRIA3 RPS27 ERF GPC4 ALG13 ACER3 TSR2 NANS AGTR2 TBCK IQSEC2 KRAS PAK3 STAG2 KCNJ8 ORC4 IDS ECM1 ATP6V1B2 TBC1D24 ZNF41 SOS1 CYP24A1 COG6 OBSL1 ADA2 FRMPD4 LZTR1 PTPN11 C12orf57 SOX4 ZNF711 TRIO SET KCNK9 MED12 DLG3 RPS17 SMARCE1 DEAF1 SH3PXD2B SYP CDT1 TBL2 RNF135 ERMARD RIN2 GDI1 RPL35 DMD SLC9A7 PYCR2 CDC45 CDC6 NAA10 HECW2 RET RPL35A RPL31 RIT1 RPL15 NOG TFAP2B USP9X ARID2 SLC35A2 CWC27 RPS19 NSUN2 RRAS PSAT1 MAN1B1 RPL27 XYLT1 THOC6 AP1S2 ZNF81 BRAF SOX18 CIT HP_ECLABION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLABION SMS CCDC8 IGF1R TGM1 NRAS MBD5 LIMK1 RFC2 ALOXE3 MYO18B FRMD4A RAB3GAP1 WDR35 PLXND1 MSX1 KIFBP GTF2I ERCC6 FOXG1 WDR19 IFT52 IDUA MED25 EDA2R ELN RPS6KA3 BCL11A TFAP2A SMG9 CLIP2 ERCC2 QRICH1 ATRX KCNMA1 CYP4F22 HRAS AP4S1 ERCC1 CLIC2 MYCN PUS7 IFT122 EDA EHMT1 HSPG2 MAFB IFT43 AP4B1 MED13L KANSL1 CDKL5 ABCC9 SMARCA2 GBA SCARF2 AP4M1 PAX6 BMP2 KCNK4 WDR26 FOXC1 ADAMTS2 EDARADD MCOLN1 TBL1XR1 PITX2 ABCA12 KCNH1 TBC1D24 FGD1 ALOX12B DOCK7 EDNRA SULT2B1 CUL7 AP4E1 FBXL4 SLC25A24 MGAT2 NFIX NIPAL4 CHAMP1 POMGNT1 TBL2 RIN2 HGSNAT SOX11 RAB3GAP2 EDAR NAA10 FHL1 ERCC5 BDNF MECP2 RPL10 FBXO11 SPECC1L OBSL1 ASXL3 PHGDH TFAP2B CHN1 EEF1A2 ABHD5 BAZ1B KMT2C DHX30 RAI1 PSAT1 SALL4 MAN1B1 OCRL ZSWIM6 REV3L GTF2IRD1 ANTXR1 LIPN SDR9C7 WT1 ADNP HP_TONGUE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_ATROPHY FRG1 NOP56 GSN KY SLC52A3 MORC2 EXOSC3 SH3TC2 COL7A1 PANK2 HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY WAS RASGRP1 PIK3CD ADA CASP10 FAS PRKCD FASLG HP_ABNORMALITY_OF_CEREBRAL_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CEREBRAL_VEINS EDN1 MSX2 PLCB4 GNAI3 ALX4 EPHB4 HP_PANNICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANNICULITIS IFIH1 HAVCR2 TREX1 RNASEH2A SAMHD1 LCK CASP10 RNASEH2C FAS PRKCD KIF11 MYSM1 PSMB9 PSMB8 RASGRP1 PSMB4 OTULIN ADAR RNASEH2B ADA2 FASLG HP_ABNORMALITY_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PITUITARY_GLAND TAF4B NKX2-1 SMARCAL1 GLI3 PDGFRB SOX3 TEX15 TSC2 GH1 NR5A1 ESR1 AFF4 FSHR FGFR1 PMS2 FSHB STAG3 LHCGR EPCAM OTX2 PNPLA6 EDA2R POLA1 MAP3K1 HESX1 ALMS1 TBX19 FOXH1 ZFPM2 SIX3 CTNNB1 WWOX PWAR1 SLCO2A1 CDON IDH2 PROP1 CDKN1B FGF8 DMXL2 WDR11 HSD3B2 GPR101 CHD7 GLI2 MSTO1 TBCK GMNN BTK PIK3CA DHX37 BRAF MT-ATP8 MEIOB HSD17B4 MLH3 MCM8 MSH2 HS6ST1 FMR1 TSHR ZNF148 ANOS1 ZSWIM6 GDF9 SEMA3E IL17RD LHX4 NPAP1 WASHC5 SHH FANCM AKT1 CYP17A1 CYP11A1 TMCO1 CDH23 GAN DUOX2 POMC MEN1 KMT2A ZIC2 KLHL10 SLC35A2 SECISBP2 CEP57 PTCH1 BMP15 BSCL2 WDR4 GNAS YY1 PRKAR1A FLNB WT1 KCNJ11 AIP GAS1 TGFBR2 SRY PAX8 PPP2R3C CDKN1C SOX2 ABCC8 APOA5 NFKB2 DISP1 TGIF1 NDN FANCI PREPL POLE NANOS1 ADAT3 SEMA4A LHX3 COG2 AAAS FLRT3 PDGFB NSMCE2 PROKR2 KISS1R WFS1 FOS B3GLCT CCDC141 CYB5A TBX2 TRAF7 GATA4 SLC29A3 DCAF17 EDA TP53 CFTR SRD5A3 HERC2 SMO SUFU HFM1 AGPAT2 CDKN1A MAGEL2 CNBP NONO ERF ROBO1 PPARG CAVIN1 CDKN2C NUP107 FAN1 TDGF1 NF2 SNORD115-1 ADNP BAP1 BICC1 STAT5B GPC1 TERT RRM2B GANAB XRCC2 BMPR1A DCC GPR161 ARNT2 SOX10 POU3F4 ALX3 THOC2 SIN3A TACR3 SNRPN LEPR SYCP3 SOHLH1 VAMP7 PRLR TMEM67 IARS2 SPIDR POLR3H SMC1A PKD2 USP8 DMPK UCP2 LEP APC PUF60 VPS13B SMARCB1 ERCC6 MSH6 SOX9 PMS1 FOXL2 DUSP6 MKRN3 THRB MT-TL1 PKD1 FOXA2 RBM28 SYCE1 DHH PCSK1 MLH1 PROK2 CBX2 AVP RNPC3 IDH1 KRAS POR SNORD116-1 NSMF SIX6 MARS2 MED12 STX16 PDE4D TSC1 GATA6 FGF17 NODAL CAV1 AR POLR3A IGF2 TBCE BNC1 ZMYND15 GHSR NR0B1 DMRT3 PWRN1 RPS20 RFWD3 SEMA3A PSMC3IP SLC7A7 GMPPA NDE1 ESR2 EIF2S3 SMARCE1 BMP4 TEX11 HPGD KIAA0556 TP63 MRPS22 CYP11B1 DLL1 SPRY4 TEX14 PMM2 CDKN2B TDRD9 TRAPPC11 TBX3 FEZF1 POU1F1 PITX2 SLC16A2 HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND SMARCB1 BAP1 SUFU COG2 PDGFB CTNNB1 PIK3CA TERT AKT1 SMO BRAF GHSR HS6ST1 NDE1 MED12 CDH23 NFKB2 SMARCE1 NF2 FGF8 TRAF7 HP_SMALL_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PITUITARY_GLAND GHSR HS6ST1 NDE1 MED12 COG2 FGF8 HP_METAMORPHOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAMORPHOPSIA GNA11 CRX CYSLTR2 BAP1 BEST1 PRPH2 GNAQ SF3B1 ABCC6 ENPP1 HP_TEMPORAL_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_OPTIC_DISC_PALLOR MAG CYP1B1 DNM1L OPA1 MYOC HP_LOWER_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_PAIN ERLIN1 MFN2 MT-TK PRKRA TGFB1 MT-ATP6 SPG7 ALDH18A1 BSCL2 HP_HIP_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_FLEXOR_WEAKNESS CHRNE CHRND AK9 SCN4A RAPSN DOK7 COL13A1 GNE MYOT CHRNA1 FLNC LRP4 AGRN MUSK CHRNB1 HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY TGFBR3 THSD1 COL3A1 ENG ANGPTL6 HP_PERIVASCULAR_SPACES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVASCULAR_SPACES CNTNAP2 HTRA1 PAFAH1B1 NRXN1 NGLY1 HP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN BAP1 IL2RA CASR PRSS1 FKRP FMR1 MVK SPINK1 REEP2 STK11 COMP PTH1R CLCN5 EPCAM POLG NF1 MEFV TP53 CTLA4 PDGFRA PON1 GPR35 FGF23 TYMP OPA3 GRHL2 GNA11 DNAL4 GLA DNA2 CCR1 CCR6 TMEM43 GPC3 MLH3 MSH2 EXT1 IL6 POLG2 LMNA CASQ1 TCF4 RUNX1 BCOR AKT1 MT-TK GBA NEK1 CFI IRF2BP2 MYBPC3 CEL BSCL2 GNAS CAV3 MT-TW CCDC78 CLDN16 PALB2 MITF C9orf72 CASK UNC13A ACADVL POU6F2 ABCG8 F12 DAXX C4A COL2A1 ALDH18A1 DYSF PSMB8 MME MST1 TRAPPC11 CFTR F5 SLC25A11 ERBB4 TEK WNT3A MPL WT1 SUFU AGPAT2 SCNN1B GTF2IRD1 UFD1 COL8A2 NF2 FAS HNRNPA2B1 CCNF DPM3 PIGY SCN4A SDHD ICOS LPIN2 IRF5 LDLR SMO WIPF1 DLST GANAB TET2 VANGL1 SPG7 TREM2 CLIP2 COMT PYGM STAT4 KIT WAS CLCN7 KCNN4 IL23R PLEKHM1 DIS3L2 SOD1 ERAP1 FOXP1 MAFB CALR CFH ENPP1 DMPK AMPD1 HIRA BRCA1 VCP DKK1 TARDBP CARS2 FBN1 TGFBR2 DOLK MSH6 TGFBR1 PMS1 MYL2 PKD1 PGAM2 HPGD ACADM HBB IRAK1 EPOR SCN1B MATN3 CAPN3 TNFRSF11B MDH2 RRM2B DNMT3A G6PD PPOX HLA-B BRCA2 CAT MT-TL1 DDB2 DCC FKTN PRKRA C11orf95 APC PRKCD POMT1 SLC4A1 ABCA1 SEMA3C MYH3 TGFB1 PHEX CD247 RPS20 COL5A2 AGXT H19 LEMD3 CR2 MYC ACAD9 TRPA1 CAVIN1 NFKB2 NLRP3 ERCC4 FLVCR1 DNM1L CDKN2B ASAH1 CHST6 NLRP12 TRIM32 ALAD ERLIN1 PRDM5 DAO NAB2 SDHB VHL SLC34A3 DMD PMS2 ERCC5 ATRX SLCO2A1 CDKN1B PTPN22 PIGT AP2S1 HNRNPA1 GNA14 MSTO1 ANO5 PIK3CA COL11A2 MYF6 MFN2 PRKCSH MALT1 FSHR WNT1 ALDOB RREB1 SDHC MT-TE GLE1 WWOX PHKA1 EDN3 SPAST MEN1 BCL10 HGD TNFRSF13C HLA-DRB1 FOXE1 ACTA2 ZBTB16 SMAD4 PRKG1 RAD51 KRAS FLT1 ASPN POMP ACADL COL17A1 SCN9A TCIRG1 ANXA11 BIN1 ANKRD55 MYH7 PLCG2 SEMA4A DGUOK BAZ1B PCSK9 COL9A1 FLNC ASXL1 CDC73 LRP5 TRAF7 F8 APRT GYPC GCGR CDKN1A TRIM28 GP1BB CTNNB1 SLC12A3 PIGA MYOT TYROBP GFI1 MMUT SOX10 STIM1 PSMB9 NFKB1 HFE HARS1 BMPR1A ERCC3 TBX18 MFAP5 TBK1 HADHB TNFRSF11A CLCNKB MS4A1 LOX CHST3 IL12B PTPN2 SQSTM1 MIF TGFB3 FIG4 CDH23 BTNL2 SMARCB1 RNU4ATAC NOS1 CHCHD10 TBX1 POLE CTRC COL9A2 MLH1 CYP27B1 MT-ATP6 TRPS1 ECE1 IDH2 EDNRB NKX2-5 SLC40A1 HMBS FHL1 SPTA1 SERPINF2 HELLPAR PIEZO1 ENO3 NRTN SLC25A26 SMARCE1 CD46 TNFSF12 MAT2A CYP2R1 LACC1 FTL PNPLA2 CCN2 PFN1 SLC39A14 LIMK1 LBR MINPP1 BIRC3 CPOX JAK2 LPIN1 ESR1 TRAPPC2 EPB42 NTN1 STAT5B PMP22 CYSLTR2 DNM2 ELN IL12A-AS1 CTSK RELA MLX PRKAR1A CLCN1 ELANE CD81 THPO PRSS2 SYNE2 PPARGC1A ADA2 ZEB1 EPB41 HABP2 TRPM4 SAA1 DBH SERPING1 XPC RYR1 KLRC4 DDIT3 PSTPIP1 TNFRSF13B PALLD CDKN2A MYH11 NOD2 SYNE1 MMP2 MRAP GNAQ OPTN OTULIN HLA-DQA1 SCNN1A SDHA CORIN MLYCD ARVCF NUMA1 CRPPA OPLAH TNFSF11 SLC25A4 SCN5A UBQLN2 KY FOS SPP1 SEMA3D TREX1 HLA-DPB1 PPARG MET PLN NPM1 ANK1 GDNF CDKN2C HLA-DQB1 DLEC1 DLL3 STAR PORCN IL12A RET RFC2 NLRC4 REST SRP54 TSC1 CAV1 SMAD3 IDH1 ORAI1 DCTN1 RNASEH1 BVES NABP1 MEF2A MSMO1 DSE JMJD1C NEFH FERMT3 SCN11A STAT6 VDR PKD2 SPTB TRIP13 TNNC1 TBL1XR1 CCND1 TMEM126B AMPD3 PRTN3 OVOL2 IL2RB GNPTG BMP2 MTMR14 STX16 CHMP2B SLC26A2 CFAP410 RNF6 LMNB2 POLR3A SCNN1G ERCC2 PSMB4 MYLK UFSP2 GHSR STOX1 TNXB VSX1 ANKH NGLY1 SEC24C TRPV4 EPHA4 OPA1 CBL SDHAF2 ATXN3 SEC63 PGK1 TGFB2 PON2 FUS HADHA HOGA1 PTEN CPA1 PML HSPG2 SCARB2 APOB CD19 COL11A1 FH GPR101 MATR3 CPT2 PON3 SFRP4 CYP19A1 ZNF687 ZNF469 TBX6 C1S SEPTIN9 COQ7 KIF1B AIP HTRA1 GLT8D1 TNFRSF1A TWNK IKZF1 UBAC2 EXT2 ABCC2 RARA LMX1B RB1 EPAS1 PDGFB EWSR1 SLCO1B3 SNX10 TAF15 MESP2 FIP1L1 ATXN2 TREH TXNRD2 HLA-DPA1 TSC2 TLR4 CNBP DMP1 FAN1 NOTCH2 CHEK2 COPA SF3B1 BICC1 GNE TERT CRLF1 PTPN11 RBCK1 GTF2I XPA GUCY2C EMD FLI1 MC2R CA2 ATP7B DNASE1L3 TK2 IL10 LDLRAP1 RNF168 SH2B3 INHBA SLCO1B1 STAT3 VPS13A PRPH NNT COL5A1 HEXB ABCG5 PTPN3 TMEM127 HPS1 LPL SRSF2 STING1 COL1A1 ANG VAPB TBL2 MAX MCM6 IL1RN ACTG2 LDHA PRNP COL9A3 CD55 FOXE3 USP8 FDX2 HP_DYSESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSESTHESIA KCNQ3 SCN2A PRRT2 GABRG2 RELA SRPX2 KCNQ2 SPTLC2 SCN4A SCN8A FMR1 NLRP3 GRIN2A C11orf95 DKK1 PMP22 HP_FOOD_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_INTOLERANCE COG8 CNTNAP2 MLXIPL ALG3 ELN NRXN1 HP_NON_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_HODGKIN_LYMPHOMA POLE ATM SRSF2 CD28 BIRC3 FOXP1 TET2 PIK3R1 ASXL1 KIT MALT1 CTLA4 RASGRP1 CCND1 FAS RHOH FASLG NBN CASP10 PRKCD TNFRSF1B NTHL1 ADA BCL10 MYC HP_CEPHALOHEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEPHALOHEMATOMA GP1BA F2 ITGA2B F8 ITGB3 GP1BB CD109 ITGA2 HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS GNB1 MICOS13 CTBP1 SLC12A6 PHF6 TCIRG1 NKX6-2 KCNJ13 KCNAB2 SLC13A5 ARID1B RUBCN REEP6 SLC38A8 KIAA1549 RNASEH2C SAG SPTBN2 PNPLA6 RRAS2 CLP1 ATP1A3 MAG OSTM1 UBE3B MC1R NEFL CC2D2A ECHS1 SACS BRIP1 NDUFS7 NDUFV2 ADSL EGR2 TMEM138 SLC2A1 CRYGD COL2A1 PCYT1A SCN8A CHMP1A NSD1 ATM OPA3 MTRR PAX6 RDH12 CACNB4 PEX1 OPN1SW WWOX NFIX OPN1MW NDUFS3 NCAPG2 ANOS1 TWNK SRD5A3 B9D1 TRIM32 NUP62 KCNK4 GJA1 SDHB ERCC3 TTPA HPS3 OGT NT5C2 RPIA RNF113A HIBCH SLC45A2 SLC35A2 TFAP2A L2HGDH COQ2 XRCC4 HPS4 SLC7A14 INPP5E GNAS UCHL1 MT-TW TCTN2 PHYH MRAS PEX12 SLX4 CLDN16 PEX10 ESCO2 GABRG2 OCLN CACNA1B AGBL5 KCNC3 POMGNT1 GPR143 KMT2D BRAF BBS4 TREX1 SLC19A2 RAD21 CASK NALCN TYR ALDH18A1 RPGRIP1 BEST1 PURA EXOSC9 ARL3 SLC39A8 SALL2 GUCY2D BCS1L SLC25A20 FANCA RPE65 PLP1 CABP4 WFS1 NDUFS6 CYP1B1 FA2H LYST MTPAP NDUFV1 TCTN1 NDUFA11 ARHGEF2 FLRT3 SLC9A1 IQCB1 TAF1 SLC18A3 XRCC2 CRB1 KISS1R LRAT MPLKIP OPA1 GPR179 TOE1 MYO9A ABHD12 SALL4 JAM2 USP8 LRP5 KCNV2 OCRL SDHA ARL13B ERCC2 ATXN8OS ERCC4 ALX4 OFD1 ATAD3A HSD17B4 EEF1A2 KCNB1 ATF6 PMM2 CEP104 ARL6 GTF2IRD1 MT-ND5 LRIT3 LETM1 NDUFS8 SDHD NDUFAF3 FANCB CDHR1 KIAA0586 ZFYVE26 TMEM126B WT1 MRE11 POC1B COL18A1 NDUFS2 RARS1 CNGA1 FANCM DHDDS TTC19 NTRK2 AGRN TUBB4A CLN5 POLG ERCC6 KIF2A MTR SLC9A6 PRKCG PPP2R5D DCC PEX2 MKS1 POU3F4 PLD3 CLTC DGUOK ALG13 ARMC9 SCN1A NEK2 ANKRD11 EXTL3 SPG7 SIN3A MAK CACNA2D2 GALC CLIP2 BBS2 HESX1 GABRA1 PEX5 KLC2 PEX11B SIL1 DNMT1 PEX26 PIK3R5 TULP1 FOXE3 RFC1 PLAA MAFB UBA5 TAF2 C8orf37 L1CAM NEU1 NANS AIPL1 ADAR CEP41 MRPS34 PEX19 DKK1 NPHP1 IFIH1 PLA2G6 ATP5F1A SOX10 HARS1 CERKL CRIPT SRY CPLX1 PDE6C ATN1 MN1 UGP2 SLC25A1 PARS2 RPGR FAT2 SOS1 IRF2BPL NSD2 CNGB3 RAB18 EEF2 LMNB1 PROKR2 NAGA MAD2L2 ATXN7 PDE6H GDF6 VPS13B PACS1 PRPF4 NDUFA10 MT-TL1 NDUFS1 RAF1 PRDX1 TUB KCNMA1 MT-ND3 PEX13 SMARCE1 TTC8 KIDINS220 CEP164 MTFMT HECW2 CNNM4 NDUFB3 MT-ND6 CLDN19 XYLT2 USP7 KMT2A BDNF HUWE1 BRAT1 PIGN PIGT FGF12 PIBF1 RIT1 MME ARID2 CACNA1F NDUFA4 HMGB3 GDAP2 TNFRSF11A HGSNAT KIAA0556 GJB1 KCNA2 MMADHC DNM1L ARHGEF18 IFT122 NR2F1 DLAT RP1 CWF19L1 POLR3A HDAC8 PALB2 ALG2 PEX16 PRPH2 FGF14 HSPD1 SLC33A1 PDE6D SIX6 GNB5 ASAH1 ITPR1 DNM1 DHCR7 IMPDH1 SH3TC2 GRM1 SCN3A ATXN10 NDUFB8 AIFM1 TCTN3 GBA2 KRAS A2ML1 SMARCD1 BEAN1 ALMS1 GUCA1B PDE6G CCDC28B NDUFA13 CPLANE1 TBC1D24 SPATA5 B3GLCT TUBB3 PRDM16 BBS5 IDH3B B4GALNT1 TBCK SPG11 HS6ST1 COG4 IFT140 LAMA1 PDE6B TMEM237 MT-ND1 GRID2 LAGE3 TUBGCP4 XRCC1 DCX SPAST PEX3 PNPT1 ADPRS SPATA7 CACNA1A GDF3 UBE3A MAN2B1 POLR3B KIF5A TAT MARS2 SMARCB1 RECQL4 DAB1 PEX6 FXN SMPD1 PSMD12 DNMBP FANCD2 MMACHC MBTPS2 FCSK SDHAF1 AFG3L2 COX10 PROM1 MAB21L2 PTPN22 WDR48 GCH1 NAA10 TMEM240 BAZ1B CYFIP2 NDUFS4 CAPN1 CYP7B1 BCOR SOX2 SAMD9L ATXN3 WDPCP PCYT2 EXOSC2 GNAT1 EBP CACNA1G CLPB BBS12 EPRS1 MVK ERCC1 TMEM126A RAD51 TACO1 TET3 SLC25A4 OCA2 EYS SLC17A5 LIG4 CRX IFT27 RGR WDR19 SDCCAG8 VWA3B EPG5 FDXR MAP2K2 MECR TACR3 UROC1 IGBP1 CACNA1E NDUFA6 SURF1 BBS7 TMEM106B KLHL7 ELOVL4 PRPS1 MT-ATP6 SLC52A2 SQSTM1 IFT43 CRYGC KIF1C ADAMTSL4 RAD51C PACS2 SLC25A24 PRKD1 RNU4ATAC DUSP6 OPN1LW GNB3 TMEM67 NDUFA1 SLC4A11 PDHA1 TBL1XR1 BBS1 USH2A GMPPB MPC1 RP2 RPGRIP1L SETD5 HIKESHI LZTR1 IFT172 BMP4 ATXN2 NSMF FOXC1 NMNAT1 MT-ND4 FAM161A EXT2 PRNP CHAT USP45 FLRT1 LARGE1 DHCR24 DHX37 MT-TK PHIP PMP22 PEX7 GABRD FRRS1L NDUFB9 RNU12 AP3D1 MERTK RNASEH2A LCA5 MT-TV GABRA5 DPAGT1 NPHP4 C12orf65 NDUFB11 ATXN1 AHI1 RRAS IARS2 KIF7 BUB1B GM2A TDP1 MAB21L1 HYLS1 SLC6A3 RNASET2 KCND3 AARS1 GTF2E2 ATP1A2 ANTXR1 FEZF1 SETX SLC16A2 NUBPL TYRP1 OXR1 SNX14 RD3 TMEM231 LIMK1 LIPT1 SOX3 HTT RTN4IP1 WDR35 FANCL NARS2 PRPF6 MT-ND2 ARX MYO5A CNGA3 KIF11 TPP1 ELN CNKSR2 NADK2 SLC6A19 AARS2 SLC1A2 SYT14 PORCN FGF8 FGFRL1 DPYD PDP1 DTNBP1 TTBK2 SYNJ1 ADD3 ZNF408 TRAK1 RHOA SOX11 PET100 ERCC8 AP4E1 NDUFAF2 SLC5A7 CTNNB1 AGK TELO2 KIF1A HSD17B10 MPV17 MCOLN1 SNIP1 GABRA2 SCO2 PLK4 ELOVL5 COL13A1 TIMMDC1 ATCAY GJC2 NDUFAF8 NDUFB10 UBAP1 TRPM1 NTNG2 FMR1 UNC80 PITX2 ROBO3 TRIM44 APTX FOXRED1 PRRT2 SKI RBP3 CNGB1 TNFSF11 TRAPPC6B ZNF513 ABHD5 NDUFAF4 CEP290 CISD2 CCDC141 PUS3 CLCN7 SYNE1 RNASEH2B GBA TBP TRAF3IP1 UBE2T SLC24A5 GLRX5 TMEM216 STUB1 SMC1A ADGRV1 SOS2 SLC19A3 VLDLR DARS2 PEX14 RNF216 ATP2B3 PRSS12 RFC2 INPP5K KIZ SNAP25 MOCS2 CEP120 BBS10 PRPF8 FOXP1 NDUFAF5 NDUFA12 IQSEC2 PDGFRB HMX1 FRMPD4 ACOX1 BBS9 FGFR1 NECAP1 CRYAA PMPCA SZT2 ISCA2 LYRM7 NHS GFER SLC25A46 LZTFL1 ABCA4 ANO10 BRCA2 NELFA SYT1 YWHAG NRL GJA8 NSUN2 FOXL2 PAX2 NDP RAB11B BRCA1 DPM1 NYX SLC35A1 SOX4 TARS1 PRCD COX15 SLC24A1 STX16 MKKS TUBGCP6 FGF17 ARID1A ATP6V1E1 CFAP410 CA4 PYCR2 NR2E3 FBN1 YAP1 NDUFA2 PCARE TKFC SUFU PIGS DNAJC12 FRMD7 AHDC1 MAF HCN1 SYT2 NDUFA9 SPRY4 MAP2K1 SON SYNGAP1 CLRN1 AHR ABCB7 ACO2 FANCE NDUFAF6 VAMP1 SMARCC2 SLC1A3 RFWD3 ACTL6B ASPA VPS13D ATP6V1A PLEKHG2 NIPBL GTF2H5 TOPORS WDR11 CAV1 CENPE PHGDH SCAPER CACNA1H HPS5 CSPP1 ARL2BP CRYBB1 TUFM CTDP1 WARS2 MYO7A COL11A1 EDNRB CDH3 SEMA3E SERPINI1 IL17RD FANCF SAMHD1 CHD7 P4HTM ATOH7 EIF2S3 PRPF3 WHRN SMC3 GRK1 AGTPBP1 FANCG RERE GPAA1 PDZD7 ANK1 KIF1B HTRA1 GRIN2A LAMB2 FANCI APC GAN NRAS ATP13A2 CHN1 EXOSC3 NOTCH2NLC VHL SNX10 SMARCA4 CBL MOCS1 REPS1 AP3B2 HPS6 PSAT1 SOST STXBP1 GRM6 ZNF423 DPF2 NUS1 VPS33A TANGO2 ERCC5 AIMP1 CACNA2D4 GRIN2D MPZ FAM149B1 TTR ATG5 YARS2 GTF2I DEGS1 IFT52 LRP4 DHX38 IDH3A PNPO RASA2 THOC2 OPHN1 RORA RHO CEP78 DPP6 RP9 ADGRG1 IBA57 SLC29A3 TINF2 KIAA0753 VPS13A RLBP1 ARV1 TENM3 LRMDA CRYBA4 GRIA4 DARS1 JRK NOP56 GABRB3 LIM2 CLTCL1 MPDU1 GNAT2 HPS1 PROK2 SIM1 LONP1 PTPN11 PHF21A ARNT2 NDUFAF1 PPP3CA FANCC FBXL4 GFM1 GABRB2 ROM1 TBL2 NAXE OTX2 ERMARD SEMA4A SNRNP200 IFT88 FSCN2 IFRD1 EFNB1 GMPPA SEMA3A BBIP1 PRX IMPG2 BLOC1S3 PRPF31 KDM6A PDE6A WDR73 AP3B1 CRYBB2 BLOC1S6 FDX2 HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE DNAJB6 MYH14 VCP ANO5 HNRNPA1 NEB FLAD1 GNE MYOT FKRP CRPPA FKTN ITGA7 POMT1 PNPLA2 FXR1 HNRNPA2B1 HP_ABSENT_THUMBNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMBNAIL CASK ATP6V1B2 PIGQ KCNA1 PNKP DMXL2 ARX GNAO1 SCN2A CDKL5 SCN1B NEUROD2 STXBP1 TRIM8 SLC25A22 SIK1 PIGP HP_DELAYED_MENARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MENARCHE STUB1 PTPN11 GHR SLC25A13 FSHB HP_ABNORMAL_NEPHRON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEPHRON_MORPHOLOGY SMARCAL1 LIMK1 KCNJ1 ACSL4 TREX1 TMEM67 ELP1 AMMECR1 FAN1 SDHB SDHAF2 NDUFB8 CD81 NARS2 VHL MAGI2 NPHP4 NF1 MEFV ELN MT-TF IL12A-AS1 ALMS1 C1QA CASP10 CTLA4 CTNS NUP160 TRPC6 SURF1 C4A GBE1 GATA3 HNF4A COL4A4 MRPS22 ACE MTRR COQ2 GLA REN UMOD CCR1 MT-ND1 MT-ND4 SDHD KLRC4 MT-TE SDHC FH LAGE3 HNF1B MT-TQ NUP85 MT-TK TP53RK NPHS1 MMUT LMX1B SCO2 NDUFS2 ANLN PLEC SLC37A4 XPNPEP3 VPS33A BSCL2 LMNB2 PDSS2 COL4A3 NUP205 WT1 APOE FASLG MT-CO3 NUP93 MT-ATP6 NUP107 SDHA UBAC2 FAS INF2 ACP5 SCARB2 AGT AGTR1 NPHS2 EPAS1 PLCE1 CLCN5 DGKE BAZ1B SLC25A11 MT-TS2 FOS APOL1 PTPRO PUS3 PAX2 NUP133 TRAF3IP1 HLA-DPB1 NPHP3 ZAP70 OCRL HLA-DPA1 AGPAT2 SHPK COL4A5 TLR4 GTF2IRD1 MT-ND5 PPARG CAVIN1 ADA SLC12A3 MT-TH SLC22A12 EMP2 JAG1 IL12A SEC61A1 RET LPIN2 COPA PKHD1 RFC2 FAH WIPF1 DLST TBC1D8B SGPL1 GTF2I CEP83 MUC1 GLIS2 CA2 DNASE1L3 KCNE5 CD2AP CLCNKB IL10 CLIP2 RASGRP1 ANTXR1 SFTPC CRB2 WAS STAT4 IL23R CFH G6PC CFI ERAP1 ITGA3 C1QC CFHR5 INVS COL5A1 BTNL2 FOXC2 MT-CO1 LMNA PTPN22 ITGB4 MT-TW PGM3 FN1 TMEM127 PRTN3 DPH1 MDH2 MT-ND6 MYO1E DNMT3A HLA-B COQ8B MT-TL1 COL1A1 FOXP3 TBL2 BCS1L PRKCD MT-ND3 CAV1 COQ6 MAX SLC12A1 MME SPRY2 KIF1B MT-ND2 PBX1 KCNJ10 ARHGDIA MT-CO2 COL5A2 WDR19 NDUFAF3 LAMB2 SLC7A7 HLA-DRB1 MT-TV C1QB C3 ACTN4 IFT122 PMM2 TPRKB NPHP1 BSND SLC30A9 WDR73 ALG8 OSGEP SOX18 HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS ZAP70 NUP107 LAGE3 MAGI2 EMP2 HP_MACROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROSCOPIC_HEMATURIA ITGB3 F8 APRT GP1BB GP9 ITGA2B HPRT1 GP1BA HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME NUP133 NUP160 NUP205 EMP2 NUP93 NUP85 HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION CYP11B2 STAR FAM20A SLC34A1 SCO1 PHEX LIMK1 NNT RFC2 KCNJ1 BICC1 INSR COX6B1 SLC34A3 GANAB GTF2I CLCN5 CACNA1S COX14 AMMECR1 OCRL TACO1 ATP7B MUC1 EHHADH PIGT ELN MC2R CTNS KRAS CLCNKB CDC73 CLCNKA CLIP2 CASR FGF23 PET100 HLA-DRB1 SLC9A3R1 SCNN1B AP2S1 HSD3B2 FXYD2 ENPP1 COA3 GNA11 HRAS PKD2 SCNN1A BTNL2 ATP1A1 ALPL CFTR COX10 PKD1 NR0B1 CYP11A1 CLDN10 CYP24A1 MAGED2 EGF MRAP SLC12A3 CNNM2 ADCY10 CLDN16 GCM2 COA8 MLXIPL ALDOB TBL2 INPPL1 COX8A AVPR2 CDKN1C NRAS PIK3C2A HNF4A SLC12A1 FCGR2A PTH1R SLC2A2 TGFB1 COX20 KCNJ5 KCNJ18 BAZ1B CLDN19 KCNJ10 SCNN1G SARS2 TXNRD2 CYP11B1 MT-TN MEN1 IFT122 HSD11B2 GTF2IRD1 BSND DMP1 CYP21A2 GABRA3 HP_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBUMINURIA GALT INS KCNJ11 IER3IP1 BICC1 PDX1 PEX1 PKD1 ABCC8 GCK PKD2 GANAB STAT3 HP_MODERATE_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_ALBUMINURIA ABCC8 GCK INS KCNJ11 IER3IP1 PDX1 STAT3 HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION CLCNKB CYP11B2 SLC12A3 ATP1A1 KCNJ18 KCNJ1 SLC12A1 CLCNKA BSND CYP11A1 KCNJ10 CACNA1S GABRA3 HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION SLC9A3R1 COX20 ENPP1 FAM20A COA3 SLC34A1 SCO1 PHEX CDC73 HRAS COX6B1 COA8 CLCN5 ALDOB INPPL1 COX14 GCM2 TACO1 ATP7B COX8A OCRL EHHADH NRAS MT-TN MEN1 ALPL CTNS COX10 HNF4A KRAS SLC34A3 FGF23 DMP1 PTH1R PET100 CASR SLC2A2 HP_ABNORMAL_URINE_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION CLCNKB STAR MRAP AVPR2 HSD3B2 CYP11B1 MC2R HSD11B2 CLCNKA BSND CYP11A1 KCNJ10 NNT TXNRD2 HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION CLDN16 FXYD2 SLC12A3 CNNM2 CLDN19 ATP1A1 GNA11 EGF IFT122 CASR HP_HYPERMAGNESIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESIURIA CLDN16 CNNM2 CLDN19 GNA11 EGF CASR HP_ABNORMAL_URINE_CYTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CYTOLOGY SDHD RET LPIN2 GRHPR BICC1 ACSL4 COL4A4 TREX1 NOTCH2 IL17F AMMECR1 IL17RC DLST FAN1 SDHB REST SDHAF2 C3 VHL TSC1 GANAB LYZ STAT5B PRKAR1A CLCN5 GDF2 NF1 COL4A3 APOA1 CTLA4 DNASE1L3 KCNE5 CD2AP NABP1 HOGA1 STAT4 GATA3 PML GP1BA YAP1 F2 SLITRK6 CFH DIS3L2 SCARB2 HBB GLA STAT3 ITGB4 SMAD4 ITGA6 COL4A1 ACVRL1 PKD2 UMPS GPC3 HMOX1 CFHR5 TRIP13 SDHC FH TBL1XR1 AGXT PTPN22 KANK2 PKD1 NUP85 BCOR BRCA2 FN1 CFI TMEM127 THBD ITGA2B LMX1B F5 HPRT1 IRAK1 PRTN3 GBA IRF2BP2 ITGA2 SLC37A4 MDH2 MYO1E DNMT3A LMNB2 LMAN1 ZBTB16 CLDN16 F10 ITGB3 CD46 NUP93 CFB SDHA GP1BB ADAMTS13 POU6F2 PRDX1 F8 SERPINF2 AGGF1 IL17RA MMACHC MAX NUMA1 SPRY2 RARA KIF1B CLDN19 EPAS1 H19 FGA GP9 SLC25A11 TRIM28 CTNS FIP1L1 B2M CD109 WT1 NUP133 SPP1 ENG HLA-DPB1 OCRL APRT HLA-DPA1 CLEC7A COL4A5 TSC2 NPM1 TRAF3IP2 MCFD2 HP_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_KIDNEY_DISEASE PAX2 NPHP4 JAG1 SEC61A1 WT1 TMEM231 SDCCAG8 IQCB1 BICC1 COL4A4 TMEM67 TSC2 FAN1 NPHP1 IFT172 TBC1D8B SGPL1 MAGI2 GANAB NPHP3 CLCN5 CEP83 OCRL MUC1 NEK8 KYNU GLIS2 NUP160 TRPC6 TTC21B COL4A3 PYGM DCDC2 GATA3 SH2B1 CFH INF2 SAA1 AHI1 PKD2 CEP164 CFHR5 DNAJB11 CTNS INVS ALDOB IFT140 CD151 LAGE3 AGXT TMEM126B PKD1 NUP85 RAD51C TP53RK CEP290 MMUT SLC7A7 FN1 ANLN DSTYK GSN XPNPEP3 MYO1E COQ8B IFT43 NUP205 CLDN16 WDR19 NUP107 TSC1 FLT1 NUP93 DZIP1L LAMB2 CORIN NOD2 SPRY2 ARHGDIA NPHS2 TRAF3IP1 STOX1 PLCE1 DGKE MAPKBP1 APOL1 CLDN19 UMOD PUS3 NUP133 SARS2 APRT LZTFL1 BNC2 HNF1B COL4A5 ACTN4 IFT122 TPRKB REN OSGEP SOX18 HP_ABNORMAL_INTRAOCULAR_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTRAOCULAR_PRESSURE GNA11 BAP1 SLC39A14 CHST14 LTBP2 GRHL2 CYP1B1 FOXE3 PRSS56 VSX1 GNAQ SF3B1 ASB10 PITX3 ASPH ADAMTS17 MYOC CYSLTR2 TEK HMX1 PXDN LOXL1 HLA-A COL8A2 DSE OVOL2 ZEB1 HP_ABNORMAL_INFLAMMATORY_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INFLAMMATORY_RESPONSE CCDC39 KMT2D BAP1 IL2RA CASR PRSS1 TCIRG1 MTAP RAG1 DSG1 IFT172 IL17F BLNK BACH2 MVK SPINK1 STAT3 XPA FGFR3 TP63 TCF4 RNASEH2C ABCB1 CD19 DNAH1 MEFV CASP10 CTLA4 MBTPS2 GATA6 SFTPC FOXN1 FLI1 GPR35 MED25 RAG2 PKP1 TTC37 NSD1 ATM LTBP3 GNA11 CCR1 PIEZO1 MT-ND4 TTC7A IL6 BPTF ATP7A GAS8 SRD5A3 AXIN1 COL11A2 BCOR ORC6 DCLRE1C ERCC3 TMC6 SLC7A7 RNF113A ICOS SETBP1 IRF2BP2 RAI1 SLC37A4 PLEC CHST14 KIT XDH BSCL2 GNAS LMNB2 GINS1 PCCA CST6 LACC1 CERS3 SELENON CD3G ACADVL TREX1 NSMCE3 AGA IL10RB CCDC65 RAD21 TBX19 C4A NFIX MNX1 ERCC2 FCGR2A PSMB8 ABCA12 FOXC2 MST1 DSE NCF4 CFTR LYST TPP2 FLG KRT10 NECTIN1 ORAI1 GJB6 F5 TAF1 TEK MPLKIP OFD1 B2M MMP1 IGHM TRAPPC11 DNAAF4 OCRL ERCC4 AGPAT2 CFB TINF2 GTF2IRD1 COG8 UFD1 FAS IL2RG SH3PXD2B GPIHBP1 RFXANK RAC1 TGM1 DNMT1 LPIN2 TAP1 CD3D FOXJ1 FLT4 WIPF1 RPGR LMBRD1 GANAB KRT8 TRAF3IP2 ATP7B DPF2 JAGN1 CARD14 TGFB1 CD3E DNAL1 CAPN5 ANKRD11 EXTL3 DEAF1 NCF1 PIK3CA CLIP2 COL4A3 COG6 COMT INAVA STAT4 HLA-DRB1 WAS RMRP CLCN7 RSPH9 PRKACA GLIS3 IL23R PLEKHM1 ERF DCDC2 ERAP1 FOXP1 PSTPIP1 DNMT3B CFHR5 HIRA DKC1 BTD ADAR GJC2 TGFBR2 IFIH1 RNF125 NCSTN SRY CCDC40 NEK10 POLG DNAI2 PLG PKD1 HPGD DNAJC21 IGLL1 IRAK1 PRKAR1A GSN MT-ND6 DNAJB13 TERT NSD2 HLA-B IL2RB CAT TP53 HMGCL DDB2 FOXP3 RTEL1 IL12RB1 BCS1L GLRB PRKCD SLC4A1 CTSC ERCC6 BTK C1S NR2F2 CD247 KMT2A PIGN CCNO COL5A2 BLM FGA CR2 NIPAL4 SLC35C1 TIMM8A PAH NFKB2 CCDC114 CLDN1 ADA LRRC56 PEPD DLX4 GRHL3 MMUT NBN NLRP3 MS4A2 FLVCR1 C3 CTC1 FGFR2 PMM2 ANO5 CDKN2B SMAD3 MT-TL1 HDAC8 LIPN SCNN1B HAVCR2 SDR9C7 NLRP12 DNAAF6 CRELD1 HNRNPA2B1 OSTM1 XPC RNU4ATAC MSX1 WNT4 BCKDHB GLUL MGP RTTN MCIDAS IL17RC TGFB3 MT-TF ERCC5 IFNGR1 ALMS1 C1QA GUSB SLCO2A1 CD79B APOE CFAP221 LAMA3 CYP4F22 CDKN1B STK36 AP2S1 EDA PLOD1 C4B HLCS TBCK HYOU1 ITGB4 TNFRSF11A SDHC MALT1 UROS MT-ND1 RREB1 CD40LG NME8 LAGE3 TRAF6 NAXD LBR HLA-C CFAP298 GTF2H5 RAB7A BTNL2 MEN1 ZFAT IL21 BCL10 PRKDC TNFRSF13C NXN LIG4 ZBTB16 GJB2 MAP3K7 LMNA IKBKG SP110 RSPH1 ARMC4 POMP IKBKB PTPRC SCN9A PRG4 MTHFD1 SLC39A4 RYR1 POLE DNAI1 ADAT3 PLCG2 PTPN22 KYNU BCL11B BAZ1B CYP7B1 TCF3 MT-TS2 CCBE1 BCKDHA CDC73 TLK2 TBX4 COL4A5 EBP CDKN1A KCTD1 GP1BB REV3L POLH CAVIN1 SLC12A3 DLG1 GFI1 EMP2 DNAAF2 ALOXE3 SFTPA2 HYAL1 KDF1 ATN1 COL4A4 KRT1 PSMB9 NFKB1 PSEN1 EDARADD STAT1 CCDC151 ATAD1 EPG5 PTEN XIAP KIF15 SLC35A1 GNPTAB CLCNKB WDR26 MS4A1 BRAF IL12B PTPN2 ZMYND10 MIF AIRE GAS2L2 RETREG1 NDUFS3 FMR1 RFX5 AKT1 HYDIN RELB ADAMTS3 PLCD1 CDH23 SH2D1A LEP HBA2 PGM3 NOS1 TBX1 TBC1D24 CHD7 SLC25A15 LRRC6 IL12A FOXD3 TNFRSF13B CD28 CTRC FLII SETD5 RANBP2 IL7R PSENEN TKT POR ALOX12B CIDEC IL10RA KIF11 SGCG PARN ZNF750 UBB KDSR SPTA1 ATL1 TTC25 CARD11 CXCR4 DDX41 MASP2 IL6ST IRGM TBCD RSPH3 CDK10 WDR19 CSPP1 HBB ITK RNASEH2A TGM5 CBS TGFBR1 CASP8 TNFSF12 IARS2 RHOH SPINK5 PDGFRL RPL11 TNFSF15 MAB21L1 APC MCCC2 FAT4 KDM6A IRF6 EFL1 IL7 DNAH11 DOCK8 NKX2-1 CCDC47 SPAG1 LIMK1 BIRC3 EDAR GPHN ESR1 EPB42 MAGI2 CD79A AFF4 LYZ IL36RN STAT5B SUOX NOTCH3 CYSLTR2 ELN APOA1 IL12A-AS1 CTSK NADK2 SLC6A19 MLX PCCB C1R ELANE CD81 PRSS2 ZAP70 BRCA1 WRAP53 ADA2 DNAAF1 KRT14 KRT5 HSD3B2 NGF DNAH9 ABCB4 UMOD ITGA6 LRBA RSPH4A KANSL1 AEBP1 KLRC4 SMARCD2 PHGDH SHOC2 TNFSF11 ROR2 ATP8B1 MT-TQ MPV17 RET NOD2 SHANK3 KRT18 CACNA1C GJA1 SMARCA2 CYBC1 CACNA1G SRCAP HSPA9 HSD3B7 GNAQ KRT16 MYSM1 MAN2B1 OTULIN HLA-DQA1 IL21R FASLG MT-CO3 CYP7A1 ARVCF NUMA1 KIAA0586 COL2A1 TFRC OPLAH TRPM1 LAMA2 IQSEC2 SLC9A3 LAMB3 VPS33B ATL3 UNG PLA2G7 NTRK1 FOS CCDC103 TNFAIP3 TBX2 SPP1 VEGFC RNASEH2B HLA-DPB1 PPARG RFXAP BNC2 MAF F13A1 NPM1 ANK1 SMC1A USB1 ADAMTS2 C5 CDKN2C MT-TH HLA-DQB1 HGD MYH9 SPIB RFC2 PSMD12 NLRC4 SLC6A5 FCGR2B CTSB SRP54 IRF8 NCF2 MEIS2 ZBTB24 KRT9 DNASE1L3 CSTA NABP1 NLRP1 MSMO1 GORAB PNPLA1 CIB1 SCNN1G SKIV2L JMJD1C G6PC GATA4 CFI FERMT3 ARPC1B TG ENPP1 C1QC PKD2 FGF3 AUTS2 LAMC2 STXBP1 NELFA EPM2A CD151 MT-CO1 TBL1XR1 GJB4 NEK9 NSUN2 JAK3 NAA10 CTNNB1 H6PD IDS GJB3 SBDS DDR2 MT-ND5 ECM1 ITCH PRTN3 WDR35 ZEB2 CYBB SMARCAD1 FECH TARS1 SULT2B1 SLC25A24 STX16 ANKRD55 NUP107 A2ML1 CFAP410 CAV1 CLEC7A POLR3A IL17RA TK2 CDH1 MMEL1 PSMB4 JAK2 CIITA ABCC6 ALDH3A2 MT-CO2 DNAAF5 IRF5 LCK RUNX2 HDAC4 SEC24C PRMT7 COL7A1 XYLT1 DNAAF3 TNFRSF1B SMARCC2 MYD88 GBA CYBA SDHB CAPN3 MET SPTB PGM1 KRT17 SLC25A13 NOP10 PDGFRA LHCGR IGF2R SCNN1A TGFB2 RIPK1 UNC119 SETD2 NIPBL SAMD9 DBT CPA1 PML SLC29A3 ADAM17 IGSF3 NFE2L2 IL4R SAMHD1 SEC23B GPR101 P4HTM FERMT1 ATOH7 CFAP300 SMC3 GTF2E2 SH3KBP1 ZNF341 XPNPEP3 SPEF2 MSN CARD9 MLXIPL HOXA13 AIP COL3A1 LETM1 TNFRSF1A IKZF1 UBAC2 PIGA ACP5 RARA LMX1B MORC2 PNPLA2 CCT5 CARMIL2 UBE2A EGFR TMC8 AP1S3 APOC2 SLC2A10 PAX6 FOXE3 DGKE TAPBP NSMCE2 SNX10 AK2 KCNJ6 FIP1L1 TNPO3 PNP HLA-DPA1 LRRC8A SHPK TLR4 HLA-A FAM111B FMO3 ARHGAP29 VPS33A NOTCH2 DRC1 COPA SF3B1 BICC1 CRLF1 PLXND1 PANK2 RBCK1 GTF2I DHCR7 RBP4 IL10 RASGRP1 PSPH ST14 RNF168 MBL2 POU2AF1 COX4I2 NHLRC1 MUC5B DNAH5 FCGR3A TKFC COL5A1 TTC12 VIPAS39 MT-TW SDCCAG8 GATA2 PCYT1A CLTCL1 TERC MPDU1 TAP2 HPS1 SERPINA1 LPL SPTLC2 STING1 COL1A1 TBL2 SIK3 ACTA1 NR3C1 HBA1 RBM8A DNASE1 TGDS BMP4 MME ZEB1 GLRA1 ITGB2 PIK3R1 IL1RN GATA3 STUB1 AP1B1 SDHA ACTG2 NHP2 C1QB CD55 FLNA ZMPSTE24 KPTN AMACR POLA1 F13B GATA1 USP8 SLC30A2 AP3B1 PAPSS2 SOX18 HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY C9orf72 COQ2 TREM2 BAP1 CHD2 PDGFB PIK3CA TERT CHMP2B SMO APOE ERLIN2 SMARCE1 MAPT VCP KCNJ11 GRN PSEN2 TMEM106B TRAF7 SLC6A1 SMARCB1 SQSTM1 SUFU ABCC8 AP2M1 AKT1 PSEN1 NF2 HP_REDUCED_EJECTION_FRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_EJECTION_FRACTION SLC25A4 PPCS GTPBP3 RRM2B TWNK DYSF POLG2 LAMA2 TTN POLG HP_IRON_ACCUMULATION_IN_BRAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_ACCUMULATION_IN_BRAIN FA2H PLA2G6 TBCE PANK2 WDR45 HP_ABNORMALITY_OF_THE_PINEAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINEAL_GLAND PSMD12 INSR WDR26 BPTF PNPLA2 VAX1 HP_ABNORMAL_THALAMIC_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_SIZE GMPPB SLC2A1 POMGNT1 POMT2 POMK FKRP POMT1 HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY SMARCB1 GTPBP3 BAP1 SUFU PDGFB PIK3CA TERT POLG AKT1 SMO TWNK SMARCE1 NF2 C12orf65 TRAF7 HP_SMALL_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_BASAL_GANGLIA ADAR SLC19A3 HIBCH NUP62 NANS CYB5A CYB5R3 TBCK TUBB3 CNTNAP1 MT-ATP6 HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY SLC16A2 DACT1 FUZ B2M FMR1 PSAP SALL1 PLP1 DAXX ATP13A2 ATRX ARVCF FA2H TBX1 TP63 TBCD CRKL COMT DSTYK HPSE2 SCN4A CFAP43 GPR35 MST1 MAPK1 GLA VCP DDHD2 ZFYVE26 JMJD1C VANGL1 ARSA SEC24C NOP56 SLC9A6 HIRA BCR RREB1 FLVCR1 GP1BB TCF4 RTN2 ABCD1 ISL1 UFD1 C19orf12 LRIG2 HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY MRE11 PTCHD1 ACSL4 MT-ND6 FRMPD4 ACTA2 ZNF711 CLCN4 ENG F10 ITGA2B SMAD4 DLG3 ITGB3 PRKG1 AHCY SYP FTSJ1 GDF2 SMAD3 MT-CO3 MFAP5 TGFBR3 ALG11 USP27X GDI1 MT-TF GP1BB DMD UPF3B SLC9A7 CNKSR2 RPS6KA3 LOX MID2 TGFBR2 AIFM1 ELN MYLK RAB39B HCFC1 MT-CO2 GP1BA ARHGEF6 TGFB3 MTRR MT-TS2 ANGPTL6 ALG13 ACVRL1 MT-ND1 MT-ND4 CXorf56 AGTR2 TSPAN7 CD109 MAT2A IQSEC2 MECP2 FBN1 PAK3 USP9X MT-CO1 COL3A1 TGFBR1 L1CAM TGFB2 MT-TW MT-TQ ARX DOCK8 MT-ND5 FOXE3 MT-TL1 THSD1 MED12 ZNF41 MT-TH IL1RAPL1 MYH11 ZNF81 ITGA2 HP_WIDENED_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_SUBARACHNOID_SPACE PTCHD1 ACSL4 MT-ND6 FRMPD4 ZNF711 CLCN4 DLG3 AHCY SYP FTSJ1 MT-CO3 ALG11 USP27X GDI1 MT-TF DMD UPF3B SLC9A7 CNKSR2 RPS6KA3 MID2 AIFM1 RAB39B HCFC1 MT-CO2 ARHGEF6 MTRR MT-TS2 ALG13 MT-ND1 MT-ND4 CXorf56 AGTR2 TSPAN7 IQSEC2 MECP2 PAK3 USP9X MT-CO1 MT-TW MT-TQ ARX MT-ND5 MT-TL1 MED12 ZNF41 MT-TH IL1RAPL1 ZNF81 HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS MT-CO2 CACNA1G MT-ND6 NDUFAF3 SLC6A8 MT-TS2 GAMT PSAP NGLY1 GALC NDUFB8 ASPA MT-ND1 MT-ND4 C12orf65 TBCK MT-CO3 POLR3A MT-CO1 MT-TF GATM MT-TW MT-TQ ACAT1 MT-ND5 SURF1 MT-TL1 COG8 MT-TH SCO2 NDUFS2 SLC35A2 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 GALC CACNA1G TBCK PSAP NGLY1 HP_MILD_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_HEARING_IMPAIRMENT PTCHD1 ACSL4 FRMPD4 ARHGEF6 ZNF711 CLCN4 DLG3 ALG13 CXorf56 AGTR2 TSPAN7 SYP MARS2 FTSJ1 IQSEC2 MECP2 PAK3 USP9X USP27X GDI1 DMD UPF3B PGM3 SLC9A7 CNKSR2 ARX RPS6KA3 COL1A2 MID2 MED12 ZNF41 IL1RAPL1 MFN2 ZNF81 DPH1 RAB39B HCFC1 HP_SEVERE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_HEARING_IMPAIRMENT COL1A2 GPSM2 ATP6V1B2 RAF1 TRIOBP BRAF PTPN11 CHSY1 TK2 HP_PROFOUND_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_HEARING_IMPAIRMENT FGF3 SLITRK6 TBC1D24 KCNQ1 KCNE1 MYO15A RDX EPS8 CIB2 HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT CTBP1 SLC6A8 NEB ELP1 F7 FMR1 KCNAB2 BACH2 GBA ARHGAP31 SLC13A5 ARID1B STK11 FGFR3 TCF4 ABCB1 EPCAM AICDA POLG MEFV ADCY6 CASP10 CTLA4 SACS TBP ATRX GPR35 TK2 MYLK SLC52A3 TYMP TTC37 CHMP1A CHD7 SCN8A STN1 SNCA GLA CCR1 WWOX NFIX MT-ND4 CCR6 MLH3 GFPT1 MSH2 POLG2 NCAPG2 NR4A2 ATP7A MCEE MEGF10 VPS13A NUP62 ATP1A3 GIGYF2 COLQ ORC6 DCLRE1C FGA SETBP1 RAI1 SLC35A2 TFAP2A SEMA3E CAMK2B REEP1 PALB2 STUB1 MECP2 COL7A1 MITF CACNA1B TRAPPC12 CD3G BRAF SFTPC SLC19A2 IL10RB RAD21 DAXX HGSNAT C4A MNX1 NALCN FLCN TPM2 EXOSC9 LRP12 SCARB2 FCGR2A SQSTM1 PLP1 KLHL7 WFS1 MST1 LYST DDHD2 VARS1 GEMIN4 NECTIN1 ALDH18A1 F5 F11 TAF1 TEK ASCL1 SFTPA2 NTNG1 MYO9A MMP1 IGHM TRAPPC11 OCRL ZSWIM6 DGUOK ERCC2 ATXN8OS NEXMIF EEF1A2 KCNB1 HSD3B7 ATP11A TUBB4A LTBP4 ACTA2 UBQLN2 GTF2IRD1 MT-ND5 UFD1 LETM1 MUC5B DDC FAS ZFYVE26 NPC1 CTC1 GPIHBP1 TARDBP RFXANK SCN4A SH2B1 RARS1 PSAP IRF5 AGRN WIPF1 ACTA1 MACF1 SLC9A6 SNCAIP LRRK2 PRKCG TET2 ATP7B CLTC TGFB1 ANKRD11 DEAF1 SPG7 MAP2K2 CHMP2B CLIP2 COG6 COMT PYGM INAVA XYLT1 HLA-DRB1 WAS GP1BA IL23R LBR PLAA ERAP1 UBA5 SMAD4 SOX5 NOP56 PCGF2 NEK1 ERLIN2 NOTCH1 DMPK HIRA BRCA1 MRPS34 TGFBR2 DKK1 RETREG1 CARS2 RNF125 CPLX1 MSH6 PMS1 VWF SLC25A1 PARS2 TPM3 RERE DNAJB6 IRF2BPL MT-ND6 RRM2B HLA-B FGG BRCA2 LMNB1 BMPR1A KCNK9 ATXN7 GREM1 PARN MED12 PRKRA CHAMP1 FOXP3 RTEL1 APC IL12RB1 SDHB MT-TL1 GLRB NDUFS1 KCNC3 TANGO2 MT-ND3 SEMA3C SLC18A3 CAV1 FA2H RPS20 USP7 KMT2A ERMARD NOTCH3 PIGN FGF12 RPL10 ACTG2 NDUFAF3 MYC CAVIN1 TIMM8A FTL GDAP2 HIVEP2 MAPT EIF4G1 DLX4 GRHL3 IFNGR1 KCNA2 FLVCR1 DNM1L CDC6 CDKN2B SMAD3 POLR3A HDAC8 TUBB6 SDHC DCTN1 DNM1 COL13A1 DHCR7 KIT CHRNA1 CHCHD10 SCN3A ATXN10 NDUFB8 SLC1A4 NGLY1 PMS2 ABCC6 TGFB3 UBTF MT-TF SLCO2A1 AMER1 SALL1 FUS CDKN1B PRDM16 PLA2G6 AP2S1 NEUROD2 PLOD1 DSP GMNN VAC14 MT-ND1 SPG11 GALC COG4 RREB1 CHRNE PLA2G4A ARFGEF2 CFTR XRCC1 PHOX2B EDN3 GP9 VAMP1 RET MEN1 IL21 ITGA2 LMOD1 TBCE FLNA ADAR MAP3K7 TMTC3 POLR3B KIF5A KRAS FLT1 AFG3L2 MED17 SP110 FXN ABCA3 CNTNAP1 FCSK PMP22 PLCG2 PTPN22 SEMA4A TWNK GBA2 BAZ1B FLAD1 MT-TS2 CYFIP2 GRM1 VPS35 GJB1 CDC73 ATXN3 LRP5 SYNJ1 F8 TBX4 MPL CDKN1A ACTB GP1BB REV3L NEDD4L CYP7B1 NONO CACNA1G ITGB3 GRIN2D MYH7 PIK3CA EPRS1 DLG1 PIGA TYROBP GFI1 TREM2 ATN1 SOX10 FAH ADAT3 B4GALNT1 TWIST1 STAT1 ATAD1 EXT2 SMC3 HRAS SLC25A22 TBK1 MECR XIAP ERGIC1 IL12B IRX5 NPHS1 NDUFA6 PTS APP SEC23A GRHL2 STAT4 LMOD3 GFI1B HOXB1 PRPS1 CBS NDUFS3 KLHL40 SMC1A RFX5 KAT6B ALS2 AAAS RLIM PUF60 SPART ENG GUCY2C PGM3 PRNP NOS1 TBX1 TBC1D24 IL12A MLH1 FLII SETD5 ITGA2B CCDC22 IL10RA POGZ DDOST NDUFA9 CNTNAP2 CCN2 ECE1 EOGT CHAT EDNRB HMBS CTCF OPTN UBB MT-TK MASP2 IRGM GABRD TBCD CSPP1 NRTN MT-TV TGFBR1 GABRA5 ATXN1 C12orf65 IL6 TXN2 PDE8B RPL11 TNFSF15 SNRPB SLC6A3 MCOLN1 PRKCD KCND3 IRF6 SETX PPM1D CCDC47 DNAJC13 LIMK1 GPHN AFF4 FOXG1 COG7 SLC6A9 ELN IL12A-AS1 CNKSR2 STAG1 MLX SLC1A2 SYT14 PNP PRPH GNAQ CTNNB1 FGFRL1 PDP1 FAM13A ADD3 CDKL5 CLCN1 PCNA CDK4 LRBA TRAK1 VAPB PRKCSH KLRC4 SLC5A7 TGM6 PHGDH DDIT3 ACVRL1 PSTPIP1 NCF4 WDR26 PALLD MT-TQ CDKN2A XYLT2 SHANK3 GABRA2 SCO2 NDUFS2 MYD88 LMAN1 MYMK B2M DOCK6 GCH1 MAN2B1 TOP3A F2 PABPN1 ASCC1 HLA-DQA1 FASLG MT-CO3 SDHD KIAA0319L SKI CORIN COQ4 AGGF1 ARVCF DLL4 KIAA0586 OPLAH JAK2 LAMA2 MYH8 IQSEC2 SLC9A3 AR RBPJ HNRNPH2 SELENON KY CISD2 PUS3 TSPYL1 TNFAIP3 SEMA3D PLEC HLA-DPB1 ZAP70 RFXAP FARS2 PFN1 QDPR F13A1 TECPR2 ADAMTS2 GDNF CDKN2C MT-TH HLA-DQB1 TBC1D23 C9orf72 CACNA1A EFEMP2 PORCN SPIB SLC52A2 RFC2 NLRC4 SLC6A5 GABRG2 CTHRC1 SRP54 SNAP25 TSC1 MYORG ARNT2 TNFRSF13B RNASEH1 NSD2 ATXN2 TERC NECAP1 SZT2 SKIV2L JMJD1C AARS1 ARPC1B PDGFRB WNK1 ENPP1 FGB MSX1 SOD1 STXBP1 SYT1 YWHAG MT-CO1 CCND1 JAK3 IDS ECM1 CD3E NFKBIA SLC19A3 PRTN3 PYCR1 TCIRG1 PLVAP F10 RYR1 ASPA SLC25A24 FBXO7 MFF MT-ATP6 PIEZO1 MT-TW CDH1 MMEL1 HPCA CIITA MT-CO2 STOX1 DHDDS CLCN4 HPRT1 GMPPA SPECC1L SEC24C CTNS MAGEL2 MGME1 HCN1 SYT2 LAMB2 MSR1 TERT TRMT10C SLC25A4 SON SYNGAP1 DPP9 MEIS2 OPA1 LIFR TRIP4 NEFH ADH1C SEC63 PDGFRA ACTL6B TGFB2 SMG9 MDM2 SURF1 RIPK1 CLMP ATP6V1A MYH11 TTC7A NIPBL SAMD9 PTEN IDH2 ADAM17 MATR3 PANK2 FBLN5 GNS GNAO1 KLHL41 ADNP NTRK2 LONP1 PIK3R5 HTT CHRND ACOX1 SH3KBP1 KAT6A LINGO1 RHBDF2 FARSB NPC2 YY1 ASXL1 NRXN1 MYOT FCGR2C MLXIPL COQ2 ALDOB CYP27A1 TNFRSF1A IKZF1 GABBR2 UBAC2 PAK1 SFTPA1 TTBK2 SPG21 CARMIL2 SSR4 SLC2A10 MAP2K1 EWSR1 SERPING1 TP63 TNPO3 REPS1 HLA-DPA1 SLC46A1 TSC2 AP3B2 TLR4 SLC25A13 SHROOM4 FAN1 NUS1 NDUFAF2 ARHGAP29 VPS33A CRYAB DYSF CRLF1 ELANE PLXND1 YARS2 GTF2I MID1 MVK LMX1B GDF2 KIF23 NUP214 PIGT KBTBD13 ATP13A2 PIEZO2 IL10 RASGRP1 PSPH PSEN1 PNKD IARS2 INHBA POU2AF1 EHMT1 NF1 KIF1A MYPN ARV1 ASAH1 WT1 TP53 GNA11 FRG1 MPZ ITGB4 ARX ORC4 C19orf12 EBF3 ABCD4 ORC1 HPS1 WASHC5 PACS1 IDH1 PPP3CA F9 FBXL4 GABRB2 GUCY1A1 TBL2 NOD2 ARF1 BMP4 FERMT1 GLRA1 MT-ND2 VCP PEX16 SCN9A SDHA NBN FBN1 CAMTA1 TNXB DAB1 PYROXD1 CD109 HPGD CD55 STAC3 SIK1 HMGA2 MAP1B MCFD2 POLA1 F13B ARID2 COL3A1 GLUD2 HP_VENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_MALFORMATION GLMN PIK3CA KRIT1 AKT1 MSX2 TEK PDCD10 CCM2 ALX4 HP_HEART_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEART_BLOCK SLMAP KCNJ2 DYSF TTR KCNJ5 RRM2B KCNE3 RAF1 PPP1CB SCN1B EMD CACNA1S SCN5A GPC3 PEX7 RNASEH1 HCN4 TMEM43 BVES SCN10A SCN3B KCNH2 KCNE5 PTPN11 CACNB2 MMP2 CTNNA3 GJA5 SYNE2 MYH7 MMP14 BANF1 TRPM4 GLA MTM1 MT-ATP8 SLC25A20 GNB5 TNNC1 GNAI2 TTN LMNA BTNL2 TNNI3K MT-TL1 GYG1 KCNQ1 MYBPC3 SYNE1 TBX5 MT-CYB SCN4B RANGRF CACNA1C CACNA2D1 PHYH CALM3 GPC4 GPX4 ABCC9 NKX2-5 ATP6V1A FHL1 ACADVL RMRP GPD1L ATP6V1E1 DES BRAF AKAP9 AGXT KCND3 SCN2B GJA1 SCNN1A DMPK ACTN2 KCNJ18 HLA-DRB1 SEMA3A POMT2 JUP LDB3 PLEC CACNA1D PRKAG2 PKP2 SGO1 KCNJ8 MYOZ2 GABRA3 HP_CUTANEOUS_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY RBM10 ROR2 FREM2 LRP4 GLI3 SMARCAD1 CKAP2L CDH11 GRIP1 WDR19 TWIST1 PAX3 MEGF8 MCTP2 IRF6 CHSY1 KIAA1109 CTNND1 MYH8 KCTD1 TP63 LEMD3 GJA1 SMO NOG XYLT1 PIEZO2 CCBE1 MAP3K20 HOXD13 LMBR1 FAT4 FRAS1 SLC39A8 BHLHA9 ANKRD11 TMEM94 FGFR2 DCHS1 TBC1D24 MEIS2 CACNA1C NECTIN1 FGF9 ORC1 NECTIN4 CDH1 MIR17HG HP_THORACIC_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTIC_ANEURYSM ROBO4 CHST3 NKAP ACTA2 LIMK1 RFC2 BICC1 B3GAT3 POR LOX ENG RERE KCNH1 SMAD3 ZMPSTE24 KCNAB2 SMAD4 FBN2 FBN1 COL1A1 PRKG1 COL5A1 AFF4 GANAB GTF2I TBL2 MFAP5 TGFBR3 HLA-B TGFB2 NKX2-5 ELN SMAD6 MLX FBLN5 GABRD TGFBR2 CLIP2 IL12B NOTCH1 MYLK PIGN PRDM16 BRF1 COL5A2 SKI SLC2A10 TPM2 TGFB3 BAZ1B FMR1 ANGPTL6 MYPN DNMT3A TGFBR1 PKD2 AEBP1 MAT2A TPM3 SEMA3E CYP11B1 COL3A1 LMNA CHD7 PKD1 COL1A2 GTF2IRD1 CYP17A1 FOXE3 THSD1 MYH11 GATA5 MED12 HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND SOX3 FOXA2 GLI2 LHX4 HESX1 POU1F1 PROP1 OTX2 HP_ANORECTAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANORECTAL_ANOMALY RSPO2 KMT2D FANCE DOCK8 PIGY PIK3CA SDHB KIT LIMK1 INSR KEAP1 KCNAB2 POMT1 FANCL NOP10 RECQL4 IFT80 STK11 RFWD3 PDGFRA PMS2 GDF6 FKRP EPCAM SALL4 CDH1 ELN BRIP1 FGFR2 COX7B PORCN EMC1 AMER1 CD81 PTEN ZIC3 B3GLCT WRAP53 GLI3 SALL1 CHD4 PRDM16 AXIN2 SMO CHD7 HCCS WDR35 FKTN SDHC TTC7A MLH3 CD19 MSH2 MSH3 RREB1 GDF3 FRAS1 FANCF LONP1 ROR2 CFTR TBX3 TNFRSF13B WASHC5 DCHS1 MKKS POLR1D PITX2 SETBP1 TNFRSF13C NXN SEMA3E CEP120 HSPA9 FANCG FUZ BCOR RERE SLX4 FLI1 COL7A1 MLXIPL TGFBR2 WDR60 FREM2 FANCB ACADVL PPP2R3C FANCI FREM1 IL10RB MNX1 PIGN FANCD2 ARVCF LARGE1 TP63 FCGR2A FANCA RIPK4 TGFB1 DVL3 SKI SEMA4A RAD51 FOXF1 CHN1 TWIST2 BAZ1B EXTL3 RTEL1 POLE XRCC2 UBR1 CCBE1 DICER1 DPYS MMP1 C2CD3 NDUFB11 PIGO POMT2 UBE2T SUZ12 TINF2 SMAD4 GP1BB LTBP4 GTF2IRD1 UFD1 FAN1 PIGV BMPR1A CTNND1 WNT3 DACT1 ICOS FANCM RFC2 ATN1 ERCC4 CDH11 KLLN POLD1 GATA1 LIG4 NFKB1 CDK8 WNT7A GTF2I TWIST1 MID1 CCNQ SPINT2 VANGL1 RAC2 NCF1 MS4A1 ATP2A2 CLIP2 COMT NTHL1 POR NPM1 JMJD1C TCOF1 MAFB HIRA DKC1 PIGL RAD51C PQBP1 BRCA2 ENG PTDSS1 NSUN2 MSH6 JAK3 NAA10 FOXC1 PMS1 CYBA GRIP1 POLR1C SEC23B TBX1 WDR34 BRCA1 CHRM3 TERC MLH1 AKT1 HOXD13 CCDC22 RNF43 TERT KRAS MKS1 IL10RA MUTYH NCF2 MAD2L2 GREM1 MED12 FANCC SLC25A24 PARN FAT4 TBL2 DYNC2H1 PIGW TCTN3 MEOX1 RFX6 GABRD FERMT1 ITGB2 RPS20 CYBB USF3 TNFSF12 ABL1 CR2 SDHA USP9X UPB1 NHP2 INTU CDC45 NBN SPECC1L SEC24C NFKB2 KIF7 USB1 PRKCD CTC1 SNRPB PGAP3 ISL1 PALB2 KDM6A PGAP2 THOC6 RPS6KA3 SDHD CD96 HP_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULE PORCN CYBA SMARCAL1 PIK3CA TSC2 KLLN ABCB6 KCNAB2 RAF1 MVK NOP10 TSC1 STK11 XPA NCF2 MLH1 ERCC3 SNAI2 FGFR3 ERCC5 MAP2K2 PTPN11 CSTA BRAF ATP2A2 C1R NPM1 GNAS KIT WRAP53 C1S CDKN1B POFUT1 PRDM16 INSR ST3GAL5 XPC IL6 GJB4 SASH1 GJB3 HLA-B SEC23B HLA-DRB1 TERC MEN1 GJA1 MSH2 GPNMB CYBB CYBC1 MMP2 AKT1 TERT RERE KRT5 DDB2 GJB2 NF1 KRAS PARN ELOVL4 SDHB KITLG PRKAR1A KDSR TNFRSF1A IKZF1 MSH6 ACP5 GABRD PMS2 ERCC2 DSTYK KDM6B USF3 PTEN NCF4 PIGN ADAR SKI NCF1 MAP2K1 TGM5 SDHC HLA-DQB1 NHP2 CPOX RTEL1 GNAQ GJB6 USB1 ERCC4 TINF2 CTC1 CDKN1A NONO CDKN2B ACTB DKC1 CDKN2C COL3A1 SDHD HP_KETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOTIC_HYPOGLYCEMIA STAR MRAP GYS2 ACAD8 MC2R SLC16A1 NNT TXNRD2 HP_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COUGH RSPH1 SFTPA2 SPAG1 LPIN2 COPA FOXJ1 MCIDAS CRLF1 IL17F IL17RC BLNK IL2RG TSC1 PANK2 CD79A GBA GAS2L2 STAT5B PRKAR1A GAS8 VCP DNAH1 CCDC151 SCNN1A DNAL1 SLC11A1 CTLA4 DNASE1L3 TTC25 NABP1 TERC SFTPC IGHM SCNN1G CFAP221 LRRC56 HLA-DRB1 PML DNAAF1 STAT3 RPGR RSPH9 STK36 DNAH9 FAM13A STN1 DSP MUC5B TERT OFD1 RSPH4A DNAH5 ERLIN2 NME8 BTNL2 TTC12 TGFBR2 TBL1XR1 PTPN22 WWOX HLA-B CCDC65 NOS1 CFAP298 BCOR CD79B CFAP300 IGLL1 EPOR PRTN3 EIF2AK4 IRF2BP2 DNAI1 DNAJB13 SPEF2 FARSB MT-CYB CCDC40 ZBTB16 ZMYND10 PARN HLA-DQA1 CSF2RB RNF6 SP110 POMT1 CCDC39 ARMC4 ABCA3 DNAAF2 IKZF1 MARS1 IL17RA DNAI2 NUMA1 DRC1 RARA TCF3 NEK10 SFTPA1 PIK3R1 RSPH3 LRRC6 DNAAF5 CCNO CFTR RTEL1 HYDIN DNAAF6 CSF2RA CCDC114 FIP1L1 CCDC103 DNAAF4 HLA-DPB1 HLA-DPA1 LRRC8A CLEC7A TSC2 NPM1 ATP11A SCNN1B ACAT1 DNAAF3 TRAF3IP2 DPP9 HLA-DQB1 DNAH11 DLEC1 HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY PIGS PEX14 ASNS PRPS1 PEX11B PEX1 PEX10 PEX3 KCNQ2 PEX5 LIPT2 OPA1 PEX16 TBCK TELO2 COG7 GRIN2A PEX6 FARS2 CRIPT UNC80 PEX26 SLC39A8 PEX13 PARS2 PEX2 NDE1 ZNF335 PSAT1 PRUNE1 ATRX PLEKHG2 LIAS DENND5A ARX PEX12 SETBP1 PEX19 WDR4 HP_PAPILLOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLOMA TP53 PORCN AKT1 DOCK8 PIK3CA KRT16 KLLN DDB2 BLNK CD79A XPA ERCC3 SDHB HRAS ERCC5 FCN3 CXCR4 KRT9 IGHM ERCC2 CIB1 TCF3 PIK3R1 IKBKG USF3 PTEN CARMIL2 TMC8 TMC6 SDHC NRAS KRT1 XPC MSH3 ERCC4 LRRC8A SEC23B DCLRE1C ECM1 STK4 CD79B FLT4 IGLL1 IL7 SDHD HP_UNILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CRYPTORCHIDISM RNF135 NFIX SRY INSL3 XYLT2 NFIB HP_ABDOMINAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_OBESITY CUL4B RNPC3 HERC2 NKAP AIP NPAP1 SNORD116-1 MKRN3 MAGEL2 SNRPN DYRK1B ARMC5 PWAR1 PWRN1 USP8 SNORD115-1 NDN LIPE MTTP HP_SHORT_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALPEBRAL_FISSURE RBM10 SNX14 LIFR CEP57 FANCE FANCG PIEZO2 FANCM ERCC4 TMEM107 SMOC1 TUBB KRAS MAD2L2 SLX4 ZMPSTE24 KAT6B GJA1 FANCC FANCL SLC25A24 TBX15 MAPRE2 RFWD3 COG7 ERMARD RBPJ FANCI UBE3B KCNJ2 SOX11 UGDH MUSK KIF15 FANCD2 BRIP1 MOGS FANCA HUWE1 POLR1A PRMT7 CHD4 DONSON MYCN CDK13 SLC2A10 SMAD4 STAC3 CHN1 USP9X HNRNPH2 BCL11B FOXE3 SALL4 MAFB LMNA XRCC2 ALX4 TXNL4A SMC1A B3GLCT MAGEL2 BPTF AUTS2 SMARCA2 RAD51C FAT4 BRCA2 SOX9 ZNF148 UBE2T EXOSC2 TBX1 FANCF THOC6 DCHS1 LARP7 PALB2 BRCA1 FANCB CLTCL1 ORC1 PUF60 KMT2A RAD51 HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY FOXRED1 GTPBP3 NDUFAF5 PDCD10 ETHE1 CCM2 MT-ND1 NDUFS2 NDUFV1 NDUFAF4 NDUFAF1 RANBP2 AIFM1 TIMMDC1 NDUFS3 NDUFAF8 NDUFB10 C12orf65 NDUFAF2 MT-ND2 NDUFV2 NDUFS4 SLC19A3 KRIT1 MT-ND3 NDUFA1 NDUFB3 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 NDUFA6 LAMA2 NDUFS6 NDUFS1 NUBPL NDUFB9 HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION FOXRED1 NDUFAF5 PDCD10 CCM2 MT-ND1 NDUFS2 NDUFV1 NDUFAF4 NDUFAF1 TIMMDC1 NDUFS3 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 NDUFV2 NDUFS4 KRIT1 MT-ND3 NDUFA1 NDUFB3 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 NDUFA6 NDUFS6 NDUFS1 NUBPL NDUFB9 HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY NDUFS1 TACO1 NDUFAF6 LIPT1 ETHE1 PDSS2 COX15 ASPA NDUFS3 NDUFS2 MT-ND4 NDUFS4 NDUFAF5 COQ8A NDUFA10 MT-TL1 MT-ATP6 NDUFA12 NDUFS8 MT-ND3 NADK2 NDUFV2 MT-TK NDUFA13 MT-TW MTFMT ECHS1 MT-ND6 SLC30A10 NDUFS7 MT-ND2 NDUFA2 GLI3 SURF1 NDUFV1 GTPBP3 FOXRED1 NDUFA4 MT-TV PET100 NDUFAF2 SDHA MT-ND1 COQ2 NDUFA9 MICU1 PRNP MT-ND5 PDHA1 SLC19A3 HP_ABNORMAL_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURON_MORPHOLOGY TYROBP ALS2 TARDBP PFN1 GLE1 NEFH MATR3 CHCHD10 HNRNPA1 DAO SPG11 PSEN1 PLEKHG5 VCP SMN1 DCTN1 POLR3B SMN2 TBK1 PON2 PON1 TREM2 ERLIN2 CHMP2B MAPT PRPH PRKAR1B FUS PPARGC1A SOD1 C19orf12 FIG4 ZNF335 ASAH1 SCP2 VAPB ALDH18A1 ATXN3 ERBB4 SIGMAR1 CEP126 C9orf72 RBM28 KIF5A PON3 NEK1 PNPLA6 ANXA11 OPTN CPLANE1 SQSTM1 TRPM7 GBE1 ANG GLT8D1 CFAP410 UNC13A GRN TUBA4A SPG7 VRK1 POLR3A IGHMBP2 SETX UBQLN2 TAF15 TFG EPHA4 ATXN2 TMEM106B UBA1 HNRNPA2B1 CCNF HP_CEREBRAL_WHITE_MATTER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_ATROPHY STUB1 L2HGDH AIMP1 ATXN2 LMNB1 ASPA ATP8A2 ALDH18A1 BCAP31 MAG ALG11 PHGDH IBA57 FAM126A DNM1L HSD17B4 DPM2 FA2H CACNA1E COG5 EMC1 USP7 PLAA PEX16 TRAPPC11 GBA2 OPA1 HACE1 SLC35A2 IRF2BPL HP_ORTHOPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOPNEA CHRNE CHRND AK9 SCN4A RAPSN TTN DOK7 KIF20A TNNI3 MYPN COL13A1 CHRNA1 FLNC LRP4 AGRN MUSK TNNT2 CHRNB1 HP_ABNORMAL_PLACENTAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTAL_SIZE ZMPSTE24 TTC37 IGF1 PHGDH MKS1 MUSK LMNA HP_NEONATAL_ASPHYXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ASPHYXIA MTMR14 MYF6 DNM2 RYR1 SHPK BIN1 RNF168 HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY GNA11 CYSLTR2 BAP1 LAMB2 GNAQ SF3B1 HP_NEOPLASM_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EAR PRKAR1A KARS1 NF2 HRAS SIX1 EYA1 VHL CHRNG HP_FLEXION_CONTRACTURE_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_FINGER CCN6 RIPPLY2 LIFR RTTN COL6A2 KCNAB2 KAT6B FBN2 LMBR1 MAP3K7 GPC3 TNNI2 HES7 FGFR3 UPF3B ARID1B SMG9 MYH3 CLCF1 HOXD13 MED25 PRDM16 TUBB3 CHRNG ERCC1 FZD2 NOD2 ORC6 WDR4 MED12 PIEZO2 COL11A2 CANT1 GDF5 GJA1 NUP133 ECE1 MEGF10 SELENON ROR2 PEX6 COL17A1 TBX3 MESP2 SLC26A2 NLRP3 SLC35A2 MMP2 NXN FGD1 SRCAP RERE ANTXR2 NUP107 GPC4 CDKL5 L1CAM TMEM70 DHODH MECP2 PAX3 SKI CAPN3 GABBR2 EMG1 ORC1 MBTPS2 COL6A1 TPRKB PSMB8 SLC39A13 TPM2 MORC2 PRG4 ERCC5 KLHL7 TBR1 IKBKG MAPK1 IGHMBP2 LAMB3 FLNA LAMC2 SLC18A3 NAA10 UBA1 NTNG1 HACD1 SIN3A ASXL1 BCOR SHH NOG ITGA7 SMOC1 TGFBR1 ZDHHC9 ADAMTSL2 LMNA COL6A3 RAPSN GPKOW PORCN SLC16A2 CRLF1 ANO5 LAMA3 ACTA1 ADAT3 TWIST2 ERCC6 NALCN OCRL LFNG ALX3 DVL1 STXBP1 MUSK ERGIC1 CHST3 COL12A1 CRKL ERCC2 COG5 PIGL ACTG2 GMNN DOK7 C19orf12 EZH2 MAFB OSGEP ERLIN2 AUTS2 ADAMTS3 BCR DVL3 ORC4 WDR73 DLL3 FKTN NSD1 XYLT1 TRPV4 COL11A1 MYL2 SMARCAD1 TP53RK MYOD1 TRPS1 CTDP1 FGFR2 SMAD3 KCNK9 ZMPSTE24 WNT5A PITX1 SH3PXD2B HINT1 KDM5C CTCF SUZ12 TCTN3 TGDS POLR3A TGFBR2 CDC45 EFNB1 CDC6 SLC35A3 GABRD CCBE1 FERMT1 MYBPC1 TNNT3 ITGB4 FBN1 CDT1 TPM3 BMP4 ALX1 IDUA CUL4B FLVCR1 MAP3K20 LAGE3 FAT4 EED NUP88 PEX1 HP_ABNORMALITY_OF_THE_OPTIC_DISC http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OPTIC_DISC TWIST1 VPS11 GLB1 TCIRG1 MICOS13 IFT172 KCNJ13 KCNAB2 MVK SLC13A5 TSFM REEP6 RAB3GAP1 KIAA1549 ERCC3 MAG OSTM1 UBE3B SOST MOGS NDUFS7 ATRX NDUFV2 BOLA3 MTFMT PCYT1A EYS OPA3 COX7B SCN8A SH3BP2 GNA11 PAX6 RDH12 PEX1 GLA CC2D2A WWOX MT-ND4 NDUFS3 NUP62 ELOVL1 WDR45 GJA1 FAM111A DNMT1 AKT1 MT-TL1 NT5C2 RPIA L2HGDH RPGRIP1 SLC7A14 UCHL1 ABCA4 CKAP2L MT-TW PEX12 PEX10 CACNA1B AGBL5 FSCN2 KCNC3 POMGNT1 TRAPPC12 SARDH TIMM50 COX8A BRAF SLC19A2 NEDD4L SERAC1 CEP290 CASK NALCN BEST1 MT-CYB BCS1L ARSA CLCN7 PLP1 LAMB1 WFS1 NDUFS6 FA2H MTPAP NDUFV1 RFC1 RAB23 RAB18 GEMIN4 NDUFA11 ARHGEF2 IQCB1 CRB1 TBC1D20 TMEM67 LRAT MPLKIP OPA1 TOE1 MFSD8 ABHD12 BCAP31 FGFR2 SDHA SRD5A3 SUFU ERCC4 OFD1 ATAD3A MICU1 EEF1A2 KCNB1 ARL6 MT-ND5 UFD1 TP53 NDUFS8 NDUFAF3 CDHR1 NF2 TMEM126B CTC1 TWNK NDUFS2 KCTD7 CNGA1 DHDDS NTRK2 SNX10 TUBB4A ERCC6 SMO COX6B1 COX14 POU3F4 CLTC SUMF1 ALG13 BAP1 B3GALNT2 NEK2 SPG7 POMT1 MAK GALC MMP2 ERCC2 BBS2 COMT WDPCP XYLT1 FKTN KLC2 PLK4 TBC1D7 CRPPA ITM2B NFIX PLEKHM1 TULP1 MT-ATP6 ERF PLAA UBA5 SOX5 C8orf37 PDHX AIPL1 HIRA DKC1 BTD MRPS34 PCK1 PEX19 MYOC PLA2G6 HARS1 CERKL DIAPH1 MT-TF PARS2 FGFR3 RERE MT-ND6 TBC1D24 NSD2 SDHD POLG MT-ND4L NAGA COL18A1 DDB2 NBAS RP1L1 VPS13B PRPF4 NDUFA10 GUCY2D NDUFS1 TANGO2 TUB MT-ND3 EIF2B1 PEX13 TTC8 CHSY1 CNNM4 NDUFB3 HUWE1 FGF12 AGXT CYP1B1 MKS1 NDUFA4 TIMM8A FTL TNFRSF11A HGSNAT MT-ND2 LRP4 MMUT KCNA2 DNM1L ARHGEF18 NR2F1 RP1 MTO1 PEX16 DNM1 DHCR7 EIF2B3 RTTN SCN3A NDUFB8 RECQL4 NGLY1 ABCC6 TACO1 ERCC5 RPS6KA3 GUCA1B PDE6G GNAT1 NDUFA13 PRDM16 ERCC1 IDH3B MFRP POMGNT2 MT-CO3 PIK3CA IBA57 MFN2 MT-ND1 PSAP RREB1 PDE6B PEX11B LRP5 STT3B TUBGCP4 COX10 PEX3 TMEM216 SPATA7 RPE65 ADAR TMEM98 COA8 IKBKG PPT1 PEX6 FXN PSMD12 RPGR TPI1 FCSK SDHAF1 PTPN22 PEX2 IL11RA DGUOK MT-TS2 CYFIP2 EIF2B5 NDUFS4 ATIC CYP7B1 TRAF7 PCYT2 SMOC1 GMPPB GP1BB MERTK EPRS1 PNPLA6 TMEM126A ZNF408 RGR ALG3 POLR3B FDXR MAP2K2 MECR MPDZ BRAT1 ZNHIT3 NDUFA6 SEC23A SURF1 UQCRFS1 KLHL7 TBCE PRPS1 CBS SLC52A2 SNAP29 AAAS FH APC SMARCB1 DNAJC19 ARL13B CDC42 NDUFA1 TBX1 PDHA1 USH2A CASR RP2 HIKESHI PRPF31 CCDC22 KIF11 POGZ NMNAT1 FAM161A USP45 FLRT1 ARL3 MT-TK PRKAR1A GABRD POMT2 TBCD FOXRED1 NDUFB9 ATXN7 WDR73 CSPP1 ZNF513 MT-TV GABRA5 C12orf65 SLC25A19 ATXN1 SMARCE1 KIF7 CRX MCOLN1 TGFB1 ANTXR1 TRAPPC11 NUBPL RD3 SLC39A14 LIPT1 RTN4IP1 EIF2B4 NARS2 PRPF6 PDE6A MYO5A SLC6A9 LARGE1 IFT140 CNKSR2 DPM2 SLC1A2 CEP55 ECHS1 ADAM22 PORCN GNAQ ADA2 MMP14 DPYD C19orf12 SYNJ1 ZNF592 TRAK1 XPC RHOA PET100 NDUFAF8 ERCC8 NDUFAF2 KIF1A TNFSF11 HSD17B10 MT-TQ XYLT2 NLRP3 DENND5A GABRA2 SCO2 NDUFB11 TMTC3 MGP VPS33A MAN2B1 TIMMDC1 GJC2 NDUFB10 ARVCF KIAA0586 PRUNE1 B9D1 SKI RBP3 COL4A1 CNGB1 NDUFAF4 CISD2 SCAPER B3GLCT TNFRSF11B STAMBP GLRX5 TFG CLN3 MT-TH SLC19A3 CACNA1A RBM10 DARS2 PEX14 PEX5 MT-RNR1 RNF216 INPP5K SIL1 GABRG2 GTPBP2 LCA5 KIZ TSC1 PRPF8 RAB3GAP2 NDUFAF5 NDUFA12 FRMPD4 ACOX1 TXN2 NECAP1 SZT2 ISCA2 POMK LYRM7 JMJD1C ST3GAL5 COA3 TRNT1 AARS1 SLC25A46 GNAS NELFA RXYLT1 YWHAG NRL MT-CO1 CLP1 IDS RAB11B PROM1 EMC1 DPM1 EPG5 IMPDH1 TCTN2 ELP1 PRCD COX15 SON ASPA TUBGCP6 MFF NDP VCAN CFAP410 CA4 GRN CACNA1F POLR3A ATP1A3 TK2 NR2E3 B4GAT1 YAP1 NDUFA2 PCARE MT-CO2 COX20 GMPPA SEC24C PDSS1 TMEM107 ARX HCN1 DOCK6 NDUFA9 SYNGAP1 CLRN1 AHR ZIC1 FKRP SNRNP200 RSPO2 ACO2 SCO1 NDUFAF6 ASB10 ATP6V1A ACTL6B CSF1R MT-TP CTNNB1 TOPORS PEX26 PIEZO2 ARL2BP WARS2 AUH SEMA3E CHD7 P4HTM MMP19 PRPF3 KAT6A NIPBL SELENOI GPAA1 KRAS LETM1 CYP27A1 PCLO AIFM1 PMPCB YME1L1 MAP2K1 AMPD2 PDGFB NOTCH2NLC AHI1 RPGRIP1L EIF2B2 SAG MT-TN IER3IP1 TSC2 AP3B2 HLA-A PANK2 STXBP1 NUS1 MSTO1 WNT3 CCDC88A TERT GRIN2D GDF6 XPA DHX38 IDH3A CA2 B9D2 RHO RP9 SLC29A3 SCYL1 RLBP1 ARV1 ACER3 EBP AFF4 SCYL2 MPDU1 WDR4 WASHC5 NDUFAF1 PPP3CA GABRB2 PRPH2 ROM1 DAG1 SEMA4A HK1 TUBGCP2 IFT88 TMEM231 GRID2 IMPG2 BLOC1S3 FLVCR1 PUF60 FDX2 HP_NARROW_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_JAW CCNK MYO9A SLC25A1 SLC5A7 SNAP25 SYT2 CHAT VAMP1 COL13A1 SLC18A3 AGRN HP_BROAD_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_JAW ANO5 LRP5 SH3BP2 SNIP1 AIP GPR101 HP_CORNEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_ULCERATION PRDM12 GSN FOXC2 GJB2 KIFBP TAT NTRK1 ELP1 NGLY1 HP_ABNORMAL_NASAL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_BASE SNX14 LIFR EXOSC2 USP9X VAC14 BCORL1 TBC1D24 ABCA5 SLC26A2 AUTS2 FIG4 SMARCA2 HP_WIDE_NASAL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_BASE SNX14 LIFR EXOSC2 BCORL1 TBC1D24 ABCA5 SLC26A2 AUTS2 USP9X SMARCA2 HP_WIDE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_RIDGE HNRNPK RPL10 ALX4 SUZ12 TBL1XR1 AP4M1 POLR3A HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA SETD5 NXN SEMA3E RAB3GAP1 RAB18 NIPBL SNORD116-1 WNT5A SLC25A24 TP63 CCNQ FGFR2 DVL1 CTCF ROR2 SETBP1 RAB3GAP2 RAD21 POR AR IRF6 ORC1 CDC45 SNRPN PWAR1 CDC6 VAC14 PWRN1 PORCN KMT2A NDN ECEL1 RIPK4 B3GLCT SMCHD1 GMNN FZD2 CHD7 ORC6 TBC1D20 ESR2 CDT1 DVL3 UBE3B HERC2 ORC4 NPAP1 MKRN3 MAGEL2 SMC1A HDAC8 ACTB FIG4 SMC3 SNORD115-1 POC1A HP_NONCOMPACTION_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONCOMPACTION_CARDIOMYOPATHY MYSM1 RNU4ATAC MIB1 SDHB DNAJC19 SDHD DTNA SDHA SDHAF1 HP_RETINAL_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_VASCULAR_TORTUOSITY MT-ND6 ESS2 LIMK1 ETHE1 RFC2 ELN MT-ND4L SELENOI NEK1 MT-ND1 MLXIPL MT-CYB GTF2I COL4A1 TBL2 MT-ND4 NOTCH3 DGCR2 MT-ND5 ARVCF TBX1 CLIP2 COMT MT-ATP6 DGCR6 MT-ND2 JMJD1C NDP MT-CO1 MT-CO3 BAZ1B FZD4 SEC24C CENPF HIRA RREB1 DGCR8 GP1BB GTF2IRD1 UFD1 NDUFS2 LRP5 HP_SKIN_APPENDAGE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_APPENDAGE_NEOPLASM APC FLCN MLH1 MSH2 PTEN CTNNB1 KLLN SEC23B KEAP1 WNT10A DICER1 HP_OVOTESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOTESTIS NDUFB11 COX7B WNT4 HCCS SRY RSPO1 HP_ABNORMAL_GERM_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GERM_CELL_MORPHOLOGY CFAP69 PPP2R3C NANOS1 SPEF2 PMFBP1 SEPTIN12 BRDT FSIP2 CFAP43 TSGA10 ARMC2 CFAP251 FSHB SUN5 DPY19L2 SPATA16 KLHL10 CFAP44 DNAH1 TTC29 GBA2 CDC14A QRICH2 HP_SPERM_HEAD_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPERM_HEAD_ANOMALY CFAP69 SUN5 NANOS1 DPY19L2 SPATA16 PMFBP1 BRDT TTC29 TSGA10 ARMC2 GBA2 HP_SPERM_TAIL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPERM_TAIL_ANOMALY CFAP69 NANOS1 TTC29 CFAP43 ARMC2 SPEF2 CFAP251 CFAP44 DNAH1 FSIP2 QRICH2 HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY HNF1B AR ADGRG2 HNF4A CFTR HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY CFAP69 TAF4B FANCE RSPH1 CATSPER2 SPEF2 SPAG1 LIMK1 TEX15 TTR DAZ4 HSFY1 MCIDAS FMR1 FGFR1 DDX3Y FANCL RFWD3 FSHB LHCGR DNAH1 KISS1 MAP3K1 CFTR ELN ZFPM2 SACS WWOX BRIP1 NR0B1 BPY2 SYNJ1 CFAP221 UCHL1 STRC SPRY4 SLC29A3 DNAAF1 TACR3 HAMP RPGR FGF8 ATM STK36 WDR11 FGF17 DAZ2 DBH DNAH9 SNCA DNAAF5 HFE BRDT PIK3CA ADGRG2 DHX37 OFD1 RSPH4A MEIOB MCM8 HS6ST1 PROK2 NME8 GAS8 ANOS1 IL17RD FANCF PODXL CCDC65 GPR101 CFAP298 FANCM AKT1 ABCD1 NR5A1 CFAP300 COQ2 KLHL10 CACNA1G MRAP BLM RSPH9 FANCG LRRK2 ZMYND10 SLX4 KDM5D ANK1 FGFR3 AIP SRY GNRHR CCDC39 ARMC4 FANCI FANCD2 DNAI2 VPS13C TTC29 FANCA TEX14 NEK10 PRY CDH23 NANOS1 BCL10 TFR2 TSPY1 CDY2A PARK7 AURKC FLRT3 HTRA2 BAZ1B PDGFB XRCC2 KISS1R DNAAF6 WFS1 CISD2 CDY1 NDP CCDC141 CCDC103 DNAAF4 TXNRD2 TRAF7 GATA4 OCRL UBE2T DCAF17 ATXN8OS SUFU CNBP GTF2IRD1 FANCB NF2 RAD51 STAR SOX9 SYCP3 BAP1 PINK1 RFC2 ERCC4 BICC1 SOHLH1 FOXJ1 ZMYND15 TERT SMO RPS4Y2 GANAB GAS2L2 GTF2I KIT DCC STEAP3 CCDC151 SUN5 SOX10 TAC3 DNAL1 CATSPER1 MC2R PROKR2 HJV CLIP2 HESX1 VAMP7 USP9Y AIRE PMFBP1 VCY SPINK2 HBB SOX3 SYCE1 ARMC2 PKD2 DNAH5 SCP2 STK11 DMPK XKRY DAZ1 NNT RAD51C BRCA2 SMARCB1 TTC12 HEXB AR DUSP6 PKD1 LHB DAZ3 WT1 RBMY1A1 DHH BRCA1 MEN1 LRRC6 TDRD9 POC1A PRKN DNAI1 DNAJB13 GALC CCDC40 ALMS1 LMNB1 BMP2 NSMF CHD7 MAD2L2 FANCC GUCY1A1 SLC40A1 TBL2 NR3C1 CFAP410 SEMA3A TTC25 CEP19 DNAAF2 DRC1 DMRT3 POLA1 GBA2 RSPH3 SYCP2 CCNO HYDIN GNRH1 EIF2S3 CTNS SMARCE1 CCDC114 TEX11 LRRC56 PRY2 HNF1B RTN2 DNAAF3 ANTXR1 PALB2 FEZF1 DNAJC6 DNAH11 HP_ABNORMALITY_OF_THE_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LABIA_MINORA FZD2 ATIC RAB3GAP1 RAB18 ORC6 SNORD116-1 TBC1D20 WNT5A KAT6B CDT1 FGFR2 DVL3 ZFPM2 SETBP1 CYP11B1 HERC2 POR DVL1 ORC4 NPAP1 MKRN3 MAGEL2 ORC1 CDC45 SNRPN ESCO2 PWAR1 CDC6 RAB3GAP2 ACTB PWRN1 SNORD115-1 NDN GMNN HP_ABNORMALITY_OF_THE_LABIA_MAJORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LABIA_MAJORA SETD5 NIPBL POR WNT5A SLC25A24 TP63 CHRNG FGFR2 DVL1 CTCF ROR2 SETBP1 RAB3GAP2 RAD21 IRF6 ORC1 CDC45 CDC6 VAC14 KMT2A ECEL1 RIPK4 B3GLCT SMCHD1 GMNN FZD2 HSD3B2 ORC6 ESR2 CDT1 DVL3 UBE3B CYP11B1 ORC4 LIPE PMM2 SMC1A HDAC8 FIG4 SMC3 MYH3 HP_ABNORMALITY_OF_THE_UTERINE_CERVIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERINE_CERVIX SRY STK11 CXCR4 PLG CDKN1B COL3A1 HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS STUB1 GJC2 CPT1C SYNE1 SACS HP_HANDGRIP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HANDGRIP_MYOTONIA CLCN1 DMPK SCN4A HINT1 ACTA1 HP_EURYBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EURYBLEPHARON DVL3 ACTG1 WNT5A FZD2 CDH1 ACTB DLX4 DVL1 CTNND1 HP_ESODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESODEVIATION MYO9A GBA NALCN PIGY TMEM216 CHST3 MPLKIP VAMP1 GRM1 AGRN FAM149B1 TCTN3 SNAP25 SLC38A8 PPP2R5D AMMECR1 COL6A2 CLP1 SOBP PEX5 PDE4D UNC80 SNRPN PWAR1 RORA CPLANE1 EMC1 SEC23A GTF2H5 TUBB3 DPP6 ZEB1 SCN8A CHMP1A COG8 ADGRG1 HOXB1 GRHL2 KIF7 GNA14 NEUROD2 ERCC3 PIGO KIAA0753 ARHGAP31 ATAD3A LGI4 TENM3 CRB1 GALC APC PIGL SYT1 SLC5A7 PHGDH TBX1 TELO2 LAGE3 COL12A1 NPAP1 MKRN3 ERCC2 SLC25A1 ATOH7 GTF2E2 OVOL2 RNF113A RERE ALG9 IRF2BPL ZEB2 CACNA1A NEXMIF RRM2B TARS1 GLRB B3GAT3 COL13A1 SNORD116-1 COL6A1 DDOST COL6A3 AHCY CHAT RNASEH1 NTNG2 FBN1 PIGW KCNMA1 CYB5A KIDINS220 SLC18A3 MBD5 PAK1 COL11A1 SALL2 PWRN1 KDM6B USP7 HUWE1 NDN PIGN PIGT ADAT3 AHDC1 VSX1 OFD1 HMGB3 GRID2 MAGEL2 CYB5R3 IARS2 BLOC1S3 KIF21A PYCR2 ZSWIM6 HERC2 SYT2 PGAP3 NR2F1 PMM2 SON SOST COL8A2 PGAP2 PDE6D SNORD115-1 PIGV PUF60 TRIT1 TBC1D23 HP_EXODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXODEVIATION TYR CNGB3 SLC6A8 TMEM231 PDE6H PRPS1 ZC4H2 CDH11 UBE3A PTRH2 AFF4 NGLY1 FGFR3 MC1R MYF5 CNGA3 TGFB3 FBN1 PHOX2A BCOR HADHA DNMBP SALL2 ATRX ACADSB KDM6B KDM1A TRAPPC11 LYRM7 TUBB3 RPL10 TMEM67 EFNB1 RPGR ADGRG1 COL4A1 OCA2 CDC42 ADD3 SLC25A46 SOX5 TGFBR1 TAF2 GNAT2 DPAGT1 WARS2 C12orf65 BLOC1S3 MRPS34 PUF60 SLC17A5 KIF21A TGFBR2 CRIPT TBX1 ADNP SCO2 PDE6C ATF6 NR2F1 NONO SON SPATA5 SMAD3 P4HTM BCORL1 RERE HACE1 SLC35A2 HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY EPB41 SLC4A1 KCNN4 SPTA1 SLC4A4 GYPC RHAG SPTB ANK1 PKLR EPB42 PIEZO1 HP_HYPOPIGMENTED_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_MACULE TSC1 CDKN1B CDKN1A TSC2 ABCB6 NONO MEN1 CDKN2B NF1 CDKN2C POFUT1 HP_ERYTHROCYTE_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROCYTE_INCLUSION_BODIES HBB RPSA HBA1 G6PD FADD HBA2 GPX1 CASK STIM1 PUS1 HP_HEINZ_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEINZ_BODIES HBB HBA1 G6PD HBA2 GPX1 CASK HP_ABNORMAL_URINE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PROTEIN_LEVEL PAX2 GATM SMARCAL1 SCO1 LIMK1 ACSL4 PDX1 TREX1 NOTCH2 VHL ABCC8 AMMECR1 FAN1 SDHB SDHAF2 MAGI2 LYZ CLCN5 OCRL TACO1 NF1 ELN MT-TF APOA1 CTLA4 KCNJ11 CTNS NUP160 TRPC6 TMEM127 PET100 GATA3 STAT3 WDR4 SAA1 SCARB2 GLA MT-ND1 MT-ND4 SDHD NUP133 GDNF ERCC8 MT-TE SDHC FH LAGE3 PSTPIP1 COQ2 COX10 MT-TQ NUP85 MT-TK TP53RK NPHS1 CFI THBD LMX1B GBA ANLN ITGA8 SLC37A4 VPS33A NIPBL LMNB2 PDSS2 COL4A3 LRP2 COA8 NUP107 CD46 WT1 APOE FLT1 MT-CO3 CFB COX8A SDHA LAMB2 INS CORIN HNF4A MMACHC TPRKB RET NPHS2 EPAS1 PLCE1 DGKE BAZ1B SLC25A11 MT-TS2 PTPRO OFD1 PUS3 B2M SPP1 HLA-DPB1 ZAP70 APRT MT-TN HLA-DPA1 IER3IP1 COL4A5 PEX1 PMM2 GTF2IRD1 SLC12A3 MT-TH MAF GALT PRODH MYH9 LPIN2 RFC2 BICC1 COL4A4 ERCC6 DLST COX6B1 TBC1D8B SGPL1 C3 GANAB GTF2I COX14 ATP7B EHHADH DNASE1L3 ERCC4 KCNE5 CD2AP CLCNKB CLIP2 GCK STAT4 SH2B1 SLITRK6 COA3 G6PC INF2 SNAP29 ITGA3 MAFB CFH NEU1 PKD2 OSGEP HMOX1 MEFV FOXC2 MT-CO1 PTPN22 MT-TW KANK2 PKD1 MT-ND5 FN1 WDR73 IRAK1 PRTN3 MDH2 GSN MT-ND6 MYO1E SLC35A1 DNMT3A COQ8B MT-TL1 DDOST CUBN WDR19 LCAT TBL2 ADAMTS13 PRDX1 HELLPAR COQ6 MAX SPRY2 KIF1B ARHGDIA MT-CO2 STOX1 COX20 FGA PYGL SLC7A7 SARS2 HNF1B ACTN4 NOS3 HP_DISTAL_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_JOINT_LAXITY COL6A1 COL6A3 PYROXD1 COL13A1 COL6A2 ALG2 HP_ABNORMAL_SARCOMERE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SARCOMERE_MORPHOLOGY TTN RYR1 SQSTM1 ANO5 FXR1 HP_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_SEIZURE GNB1 SMS EFHC1 HACE1 PIGY CAMTA1 GLB1 TMEM231 CHD2 CLCN4 PDX1 LMAN2L TSC2 MT-CO1 SAMD12 SCN8A CDKL5 STXBP1 NUS1 GABRG2 KCNJ11 SCN1A DPM2 CPLX1 ADGRV1 STAT3 RAB39B MT-TC TSC1 GRIN2B ARHGEF6 EPM2A JRK MT-TK DHDDS MT-TL1 MT-ND4 NDUFAF8 GABRD GUF1 PHGDH KIF1A WDR26 MT-TQ ARX SDHB SLC2A1 IL1RAPL1 GBA SLC25A22 SETBP1 ZC3H14 CLIP1 SLC35A2 ATP6AP2 PIGQ PDSS2 CAMK2A CLCN2 NEK1 CUX2 MAPT ALDH5A1 MT-CO3 STRADA SARDH PLAGL1 AP3D1 FBXO31 RPS6KA3 MBOAT7 MED25 MID2 TRAPPC11 TRAPPC9 MED13 CILK1 GALC KCTD7 TBC1D24 MED23 PUS3 TSPAN7 MFSD8 HYMAI ACTL6B NEXMIF SCN1B NHLRC1 MT-ND5 MT-TH SDHD PIGV GAMT MT-RNR1 SPTAN1 DMXL2 SDHAF1 KCNQ2 GRN ZNHIT3 MT-TW ABCC8 PRDM8 EXTL3 CACNB4 GCK LNPK GABRA1 PIGP SLC25A15 FBLN1 ZFP57 ST3GAL5 GRIA3 FRRS1L PRSS12 MT-TS2 KDM5B CNTN2 BTD GNAO1 IQSEC2 CARS2 PGAP1 SLC12A5 MAN1B1 MT-TF RSRC1 MICAL1 ACADM ZNF41 ST3GAL3 IQSEC1 MT-ND6 EHMT1 PCDH19 TRAPPC12 ZNF711 KCNMA1 SLC22A5 ASPA SYP SCN2A SCN9A CSNK2A1 NTRK2 GDI1 KCNA1 MT-ND3 SLC9A7 ELOVL4 WDR45 TUSC3 GPT2 FA2H SRPX2 AIMP1 MT-CO2 RPL10 NIPA1 GPHN EDC3 CRBN NEUROD2 PYCR2 ASAH1 MED12 PGAP2 TRIT1 MT-ND1 C9orf72 CSNK2B ALDH7A1 PSAP SLC1A4 CRADD NGLY1 POLG PRICKLE1 PIGM FTSJ1 RORB MT-TP UPF3B LINS1 HERC1 HCFC1 VAMP2 GYS1 STX1B CACNA1H SLC9A6 CXorf56 SMARCA2 SLC45A1 CNPY3 HIBCH SIK1 RELN PLCB1 COQ2 LBR MT-TI CLN8 CASK CSTB MARCHF6 DCPS MT-CYB MT-TV AFG3L2 SP110 MT-ATP6 CPA6 GRIN2A INS PIGC UGDH STARD7 CNKSR2 AP2M1 PIGA SARS1 CC2D1A COG2 TREM2 TRIM8 MECP2 GOSR2 SLC19A3 PCYT2 C12orf4 IER3IP1 EZR PSAT1 VCP GPAA1 ACSF3 PTCHD1 ACSL4 TANGO2 NSUN2 CERT1 TNIK DNM1 SDHA GRIK2 IFNG SLC6A1 USP27X PIGT FMN2 ARHGEF9 THOC2 BRAT1 RNU4ATAC PSPH LGI1 NDUFA1 KCNQ3 YEATS2 PCDH12 PIGO HCN1 ALG13 AGTR2 PIGL PHACTR1 LAMC3 PAK3 CACNA1D CERS1 ATXN10 SQSTM1 GABRB3 CLTCL1 FRMPD4 PNKP B3GALNT2 NDST1 PRPS1 DOCK7 HNRNPU DLG3 KCNT2 HNMT METTL23 WASHC4 DHX37 PIGW DMD TMEM106B TBCD MT-ND2 PSEN1 CHMP2B SLC25A19 ZNF142 TMX2 TECR MAPK10 USP9X BUB1B TXN2 PGAP3 PIGG NDE1 SPATA5 ATP1A2 ZNF81 TUBA8 HP_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONIC_SEIZURE GABRA1 CASK PCDH19 PIGQ PNKP DMXL2 NEUROD2 STXBP1 TBC1D24 TRIM8 SCN1B PSAP SIK1 SCN1A ACSF3 SCN9A KCNA1 GABRG2 SLC12A5 KCNQ2 SRPX2 ARX GNAO1 DPM2 SCN2A CDKL5 GRIN2A SLC25A22 KCNQ3 PIGP HP_ABNORMAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_MORPHOLOGY PDGFRB KMT2D POLR1A FGFR3 SMARCAL1 TSC2 NEK9 AMMECR1 KCNAB2 ARHGAP31 WDPCP ARID1B PTEN TSFM RRAS2 MEFV ACTA2 CASP10 CTLA4 CC2D2A BRIP1 DDX11 KRAS GATA6 ASAH1 GPR35 MYLK MED25 MFAP5 STAT3 TTC37 SALL4 NSD1 CHD7 COX7B BANF1 GLA CCR1 BGN PRKG1 EXT1 BPTF NCAPG2 ATP7A DGCR8 COL3A1 TCF4 ERCC3 RASA1 HRAS TBX1 HIBCH MYBPC3 SLC35A2 CEP57 PTCH1 MRPS16 SEMA3E CEP120 ESS2 BSCL2 IFT43 KCNH1 GALNT3 MRAS SLX4 NEK1 WRN GLB1 CSF2RB CHRNG BCOR TREX1 NRAS ABCG8 C4A NFIX BUB3 MNX1 MT-CYB IGFBP7 FANCA FOXC2 DGCR6 RET MST1 FGFR1 BRF1 RAI1 RAB23 FOXF1 SCNN1A TEK XRCC2 WNT4 NKX2-5 MPL OFD1 HYMAI ZFPM2 FGF8 CRTAP ERCC4 AGPAT2 LTBP4 GTF2IRD1 UFD1 FANCB TDGF1 HTRA1 FAS MEGF8 NPC1 MYH3 PIGY COL18A1 SEC61A1 ICOS FANCM KCNJ5 LDLR FLT4 WIPF1 SELENOI GPC4 GANAB ZMPSTE24 C12orf57 EP300 POU3F4 DIS3L2 LFNG RYR2 MMP2 CLIP2 ALX3 COMT XYLT1 FKTN WAS IL23R PEX12 ERAP1 SMAD4 PCGF2 NEU1 ATP6V0A2 SOS2 NOTCH1 HIRA ADAR BCR GJC2 IL10 TGFBR2 AKT1 MYOC IFIH1 IL6 SOX10 FBN1 SRY PTDSS1 TGFBR1 RAC1 CREBBP ERCC2 TMEM94 ELN CTSA PKD1 CIITA CHRM3 SOS1 MYH7 LCAT ALX4 HLA-B GATA5 MKS1 PIK3CA SERPIND1 CAT MAD2L2 SIX6 MED12 PPP2R1A GATA4 LARS2 PACS1 NODAL GJA8 TALDO1 RAF1 ABCA1 SMAD6 DGCR2 NR2F2 STRA6 NAA10 PBX1 CD244 ERMARD RPS26 NOTCH3 PIGN PIGT PKD1L1 RPL10 COL5A2 AGXT LEMD3 ABL1 RIT1 CR2 CYP1B1 JAG1 LMNA CAVIN1 NFKB2 MT-ND2 ALX1 GJA1 PTPN22 DLL1 GDF1 ALG8 PRKCD KIF1B ADA2 FGFR2 DYRK1B SMAD3 POLR3A PALB2 THOC6 BMPR2 CRELD1 ABCC9 DHCR7 GPC6 ACSL4 MGP VHL TSC1 CITED2 DTNA PPP1CB A2ML1 ABCC6 HES7 TGFB3 POLA1 TFAP2B ALMS1 GUSB PIGL APOE RNU4ATAC AMER1 ZIC3 B3GLCT SALL1 PRDM16 HYOU1 GDNF RREB1 ARFGEF2 UBE3B BMP2 NPHP3 PAH WASHC5 SMPD1 MKKS CYP17A1 FAT4 EOGT RSPRY1 TMCO1 ALG12 ACTB USP18 HGD TNFRSF13C NXN NID1 TBX5 FOXE3 NKAP FLNA LOX GBA FBLN5 TMTC3 EED PSMD12 FANCD2 APOA5 MMP21 DISP1 TCIRG1 IKBKG DVL3 HEXA ACVR2B BCL11B BAZ1B PCSK9 CCBE1 PTH1R LRP5 DYNC2LI1 SMOC1 TBX4 SDHD TP63 GP1BB CFC1 NEDD4L NONO ACTG1 THSD1 SLC12A3 PIGA RAD51 HPGD PCNT ADAT3 NFKB1 CDK8 STAT1 MAP2K1 SMC3 KYNU PIK3R2 CLCNKB ESCO2 IGBP1 MS4A1 IL12B CRKL STAT4 SF3B4 UQCRFS1 TPM2 CBS TCOF1 FMR1 EPHB4 COL4A1 ADAMTS3 RAD51C PUF60 TPM3 SCN9A SLC25A24 SDHB BRAF APP PGM3 CDC42 GLMN PLD1 TBC1D24 DLL3 CD96 CALR RPGRIP1L LZTR1 MAP3K7 TRAIP CCDC22 GGCX TKT POR ENG GLI3 WDR19 SLC20A2 ARL6IP6 HOXA1 CTCF DHCR24 CXCR4 FASLG GABRD ADK ATP6V1E1 RNASEH2A PSAP TNFSF12 RRAS MAT2A GM2A CYP11B1 RPL11 SNRPB SETD2 RPS19 ANTXR1 GUCY1A1 KDM6A SNX14 ROBO4 TMEM231 LIMK1 GJA5 JAK2 MT-ND1 ESR1 FBN2 FANCL AFF4 DDX59 IL12A-AS1 FOXH1 MLX PRKAR1A MT-ATP6 CD81 THPO MYRF MMP14 KANSL1 PRKCSH AEBP1 KLRC4 CRB2 ACVRL1 TELO2 ROR2 WDR26 TNFRSF13B POLR1D TP53 FADD MT-CO3 XYLT2 MYH11 FIBP NLRP3 COL1A1 IGF2 CACNA1C VPS33A MYD88 DOCK6 CALM3 FLI1 NF1 OTULIN SIX3 GAS1 C2CD3 PLAGL1 PRDM6 SOX2 CYP7A1 MCTP2 COQ4 AGGF1 NOD2 ARVCF DLL4 RERE KIF5A TGIF1 MAPK1 MASP1 CTU2 SKI TNFSF11 RBPJ CCM2 UBR1 LDLRAP1 GALC SCN10A FOS EXT2 KAT6A CLCN7 TBX2 VEGFC RNASEH2B HLA-DPB1 PPARG UBE2T SCN11A LMX1B PEX1 ARX ENPP1 NAGS RBM10 EFEMP2 PORCN IL12A RFC2 FLNB ADAMTS10 CCNQ FOXC1 GCDH MT-ND5 PTPN11 LRRC56 MYCN SKIV2L JMJD1C RPL5 CFI ARPC1B PKD2 MED13L BRCA2 STXBP1 NT5E POLR1C TRRAP COL1A2 PROC MSX2 BRCA1 BUB1B PRTN3 PYCR1 WDR35 DNAH1 DPM1 ZEB2 EHMT1 MT-ND6 GAA B3GAT3 PADI4 TAB2 FKBP14 COL5A1 YY1AP1 PIK3C2A CAV1 RNASEH2C PIEZO1 BEST1 BUB1 PPP1R15B ASCC1 TMEM67 UMPS USP9X INTU FZD4 HDAC4 GNAQ SPECC1L SEC24C FN1 COL2A1 MAX FTO SON GPC3 MEIS2 RIPPLY2 LIFR FANCE SHANK3 NFKBIL1 TRIP4 PHGDH NOTCH2 G6PC3 KAT6B STAG2 PEX19 MPI SEC63 RBM8A PDGFB RFWD3 TGFBR3 TGFB2 SRCAP CTNNB1 SMG9 TMEM127 CDON SAMD9 COG4 GMPPB CHD4 SLC29A3 SCNN1B PDCD10 MT-ND4 MYPN PROS1 NPPA APOB CD19 ZNF148 ECE1 FANCF SAMHD1 TRIP13 MESP2 DOCK8 FIG4 ZIC2 RSPO2 ZNF687 FARSB FANCG NPC2 PKP2 SLC2A10 ANK1 MLXIPL TRIP11 ALDH18A1 FANCI TNFRSF1A TRAF7 APC2 UBAC2 TBX20 SLC39A13 RPS15A UBE2A SSR4 NDP NSMCE2 SNX10 CSF2RA CBL PNP NDUFB11 HLA-DPA1 NEK8 PLOD3 TLR4 MT-ND4L NKX2-6 MAF ERCC5 DACT1 CHST3 ATP6V1A BICC1 SC5D GTF2I MVK GDF2 PAM16 ANKS6 RASA2 DNASE1L3 KCNE5 RBP4 RASGRP1 SHH SH2B3 PRPF3 BMPR1A DNMT3A VPS13A TMEM260 RIN2 PQBP1 HEXB KCNJ8 ABCG5 GLI2 ADAMTSL1 LIPC ABCD4 EIF2AK4 CYP27A1 PLOD1 MARS2 FANCC TBL2 TGDS SIK3 HCCS CEP19 ARF1 WT1 VAC14 TULP1 LIPA ANGPTL6 NDE1 TNXB SLC22A4 SUFU KRIT1 TET2 MAP1B SCNN1G CFAP53 SOX18 HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY EPCAM KMT2D CTBP1 SLC6A8 PRSS1 EDN3 CLCN4 INSR KRAS BLNK KCNAB2 POMT1 BACH2 ARHGAP31 ARID1B STK11 STAT3 SPINK1 TCF4 ABCB1 POLG MEFV CASP10 CTLA4 BRIP1 ATRX GPR35 MYLK TMEM138 TYMP TTC37 SALL4 SMO CHD7 ARHGEF6 HCCS PEX1 GLA WDR35 CCR1 MT-ND4 CCR6 TTC7A MLH3 PTCH1 PTF1A MSH2 NUP133 LAMC2 MSH3 ATP7A STX3 B9D1 PIK3CA ARX AP1B1 RUNX1 MT-TK ERBB2 HRAS SETBP1 CDH1 TFAP2A CEP57 SEMA3E CHST14 CEP120 IL1RN BSCL2 INPP5E PIEZO2 MUTYH BCOR KIT TCTN2 SLX4 PALB2 PEX10 NUP107 COL7A1 MITF CHRNG CD3G ACADVL IL10RB RAD21 F12 C4A BUB3 DHODH MNX1 LIPA GREB1L RPS6KA3 ARL3 CTNNB1 FCGR2A FANCA KLHL7 MST1 PEX12 DSE NCF4 SLC2A2 TCTN1 FOXF1 EDNRB F5 TEK AP1S1 SI XRCC2 ASCL1 IL1B TERF2IP DICER1 RHBDF2 MDM2 MMP1 TRAPPC11 FGF8 FGFR2 MTTP OCRL SUZ12 ARL13B ERCC2 SRP54 AGPAT2 DSP TINF2 HSD3B7 LTBP4 ACTA2 CEP104 GTF2IRD1 UFD1 LETM1 FANCB TDGF1 FAS KIAA0586 CTC1 MYH3 GPIHBP1 RFXANK COL18A1 SH2B1 ICOS SMARCD1 BAP1 LPIN2 FANCM IRF5 PTPRJ GPC1 PLEC KITLG WIPF1 GPC4 PPP2R5D XRCC4 ATP7B EP300 DIS3L2 FREM1 TGFB1 VANGL1 ARMC9 SIN3A NCF1 CLIP2 COG6 COMT POR HESX1 INAVA HLA-DRB1 ACTG2 WAS DACT1 DOK7 ZFP57 GLIS3 IL23R FANCL LBR EFTUD2 ERAP1 MAFB TRMT5 DCHS1 SMAD4 APC DNMT3B ENPP1 NOTCH1 DMPK HIRA DKC1 BRCA1 BCR CEP41 IQSEC2 TGFBR2 MSH6 PTDSS1 CPLX1 WFS1 PMS1 CREBBP OTC VWF PLG SEC23B TJP2 WDR34 HBB ZNF41 IGLL1 CHRM3 PCSK1 STX1A MT-ND6 AKT1 PLA2G2A RNF43 TERT HLA-B RMRP WNT3 MKS1 BRCA2 IL2RB MT-TL1 BMPR1A MAD2L2 SIX6 ZMPSTE24 GREM1 MED12 ACOX2 SYP FOXP3 RTEL1 IL12RB1 SDHB PACS1 PLAGL1 GLRB NODAL DYNC2H1 SEMA3C PEX13 SLC9A7 NEK1 MEOX1 SOX10 RPS20 KMT2A AGA PTEN ERMARD RFWD3 PIGN COL5A2 PIBF1 ABL1 IRF1 CR2 IL2RA MYC SLC7A7 CAVIN1 CDC45 NFKB2 NBN DLL1 ALG8 PRKCD SRC RET RECQL4 CDKN2B SMAD3 HDAC8 THOC6 FGFR1 SDHC SDHD CHEK2 DHCR7 RTTN AMACR KEAP1 PEX16 PMS2 FKRP SNAI2 TGFB3 MT-TF EPHX1 CCDC28B SLCO2A1 PHOX2B PDGFRA AURKA AMER1 LAMA3 ZIC3 B3GLCT SALL1 HCFC1 CDKN1B PRDM16 AXIN2 COX7B ADAMTS3 TP53 NEUROG3 HYOU1 NHP2 ITGB4 MYF6 CBLIF MT-ND1 MBTPS2 RREB1 ALDH18A1 PLA2G4A ARFGEF2 MT-TE UBE3B NPHP3 CFTR PAH SLC5A1 WWOX WASHC5 AKR1D1 MKKS FAT4 PITX2 MEN1 IL21 PEX19 TNFRSF13C FOXE1 NXN BDNF LMOD1 TBCE FLNA FBLN5 GJB2 ANTXR2 TMTC3 HELLS WDR60 KCNJ11 GDNF PPP2R3C DGAT1 PKD1 FANCD2 CNKSR2 LARGE1 MMP21 DISP1 PDGFRL BIN1 RIPK4 LRP2 SLC39A4 ABCB4 DVL3 PLCG2 SEMA4A TWNK NRAS TWIST2 BAZ1B EXTL3 CYP7B1 MT-TS2 POLE KRT8 TLR2 CENPF CCBE1 POT1 ASXL1 SOX2 PIGO POMT2 UBR1 CDKN1A GP1BB CFC1 NEDD4L EFL1 SBDS KLF6 RAD51 PTCHD1 ACSL4 ATN1 PEX11B FAH LIG4 NFKB1 CDK8 SAR1B TWIST1 STAT1 ALG3 TET2 ATAD1 PAX3 FGFR3 SLC10A2 XIAP RAC2 MS4A1 ERGIC1 NPHS1 CRKL CDK4 NTHL1 SLC30A10 RELA AIRE STAT4 SF3B4 CDCA7 L1CAM CBS PIGV TCOF1 FH ALG13 RFX5 PIGL RAD51C PAK3 CDKN2A ENG GUCY2C PGM3 TMEM67 GLMN TBX1 IL12A CTRC MLH1 PTPN12 SETD5 FRMPD4 MAP3K7 CCDC22 COL14A1 MC1R MYOD1 IL10RA PHKG2 BBS1 GLI3 ECE1 PARN EOGT SERPINH1 HMBS PRKAR1A PIGW DMD KRT18 CXCR4 MASP2 IRGM GATA6 GABRD NRTN PHKA2 ITGA8 UPB1 MUSK MPI TGFBR1 AHI1 TNFSF12 C12orf65 KIF7 SPINK5 IL6 NDUFB11 RPL11 TNFSF15 SNRPB HYLS1 RPS19 LAGE3 CCN2 KDM6A TBX3 SUFU ZNF81 OSGEP DOCK8 PIGY CCDC47 TMEM231 LIMK1 SOX3 MINPP1 STS GPHN FGF20 KIFBP CD79A DDX59 ARL6 DNM2 ELN IL12A-AS1 SLC6A19 FOXH1 LCT GBE1 PORCN CD81 PRSS2 WRAP53 RAB39B ADA2 MYRF DLC1 FGFRL1 WNT2B CLCA4 HABP2 WDR4 SAA1 SERPING1 FKTN ITGA6 LRBA BAAT KANSL1 KLRC4 PEX6 PHGDH ACVRL1 ROR2 HMGA2 TNFRSF13B PALLD MT-TQ POLR1D IL1RAPL1 B3GALT6 CYBC1 MTOR SRCAP HSPA9 MYD88 B2M DOCK6 MGMT FLI1 SIX3 FRAS1 ASCC1 GAS1 FASLG MT-CO3 ARVCF DLL4 MID2 C1R RERE OPLAH TGIF1 MAPK1 SKI SLC9A3 LAMB3 RBPJ SLC18A3 FOS CISD2 TSPAN7 C2CD3 TNFAIP3 SEMA3D LEMD3 HLA-DPB1 ZAP70 RFXAP UBE2T TMEM216 F13A1 ATP8B1 COMP SMC1A LMNA ADAMTS2 PPARG CDKN2C MT-TH CTNND1 TMEM237 DLEC1 EFEMP2 PEX14 FLCN RBM10 SPIB RFC2 ERCC4 NLRC4 SLC6A5 CTHRC1 CDH11 POLD1 DCC CAV1 CCNQ NCF2 CC2D2A DHCR24 ABCC8 ACD STN1 SPINT2 NSD2 ATP2A2 PMPCA BCL10 MYCN SKIV2L JMJD1C ARPC1B PDGFRB JUP SIX1 ZBTB24 STXBP1 MT-CO1 NEK9 NSUN2 JAK3 NAA10 IDS POLR1C ZFPM2 RPGRIP1L MT-ND5 ITCH MYO5B BUB1B RYR1 PRTN3 EMC1 ZEB2 CYBB HOXD13 ZNF711 PLVAP MTMR14 SLC25A24 COL5A1 RNF6 GDI1 TCTN3 PIK3C2A STRA6 PIEZO1 PTCH2 MMEL1 BUB1 JAK2 MT-CO2 WNT4 TNXB USP9X INTU GNAS HDAC4 SPECC1L SEC24C CCND1 CPLANE1 ODC1 PEX2 MSR1 ISL1 GPC3 PGAP2 MTM1 BRAF NUP88 RSPO2 FANCE CYBA CBL SLC46A1 NOP10 IFT80 GDF6 FTSJ1 TGFB2 TREX1 UPF3B RIPK1 IGHM CLMP MYH11 CDON NIPBL SAMD9 HNF4A CHD4 SLC29A3 COG8 ADAM17 PNLIP NPHP1 CSPP1 PEX5 CD19 CXorf56 RRM2B DCTN4 GDF3 ABCB11 FANCF HNF1B EXOC6B LONP1 MYO1H PEX26 TRIP13 FIG4 SMC3 ZIC2 SH3KBP1 KAT6A FARSB FANCG FUZ YY1 KIAA0556 PTRH2 SLC2A10 MLXIPL FREM2 FANCI TNFRSF1A IKZF1 UBAC2 EYA1 TP63 TPRKB ABCC2 CARMIL2 CHN1 PROKR2 EWSR1 SLCO1B3 GJB6 AK2 DPYS TNPO3 MECP2 HLA-DPA1 LRRC8A SHPK BAX TLR4 DMP1 FAN1 ZNF423 RAPSN NOTCH2 PKHD1 KLLN GATA1 WNT7A GTF2I MID1 MVK LMX1B GDF2 MCC USP27X FBN2 IL10 RASGRP1 PSPH SHH CIITA NPM1 INHBA SLCO1B1 NEFH POU2AF1 DNAJC21 COX4I2 VPS13A NOTCH3 AGTR2 WT1 PQBP1 PTPN22 RARB CEP290 FOXC1 MT-TW GRIP1 GLI2 WDR73 CD79B TERC HPS1 AAGAB SRSF2 TP53RK CYP27A1 ARNT2 HNRNPU DLG3 FANCC COL1A1 RAD54B TBL2 OTX2 NOD2 TMPRSS6 RBM8A ARF1 RFX6 FERMT1 GLRA1 VAC14 ITGB2 TCF3 MCM6 PIK3R1 USF3 SDHA PEX3 HPGD EIF2AK3 BTK CD55 HYMAI USB1 FLNB PGAP3 SMAD7 MAP1B POLA1 F13B SLC30A2 COL3A1 CD96 HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS MT-CO2 MT-ND6 NDUFAF3 MT-CO1 MT-TF MT-TW MT-TS2 MT-TQ MT-ND5 SURF1 MT-TL1 COG8 NDUFB8 MT-ND1 MT-ND4 MT-TH SCO2 NDUFS2 C12orf65 MT-CO3 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 GALC CACNA1G ASPA TBCK PSAP NGLY1 SLC35A2 HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY MITF SOX10 MKS1 ANOS1 EDN3 EDNRB PEX1 PIGA HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME HBB KCNN4 RPL5 TRNT1 MTRR RHAG RPS24 SPTB SLC25A38 SLC11A2 CBLIF RPS7 STEAP3 KIF23 SLC4A1 NHLRC2 RPL11 GLRX5 MMADHC ANKRD11 ABCB6 PIEZO1 TET2 HP_DECREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME SLC25A38 STEAP3 SLC11A2 NHLRC2 TRNT1 SLC4A1 GLRX5 HBB SPTB HP_INCOMITANT_STRABISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMITANT_STRABISMUS SALL4 CSPP1 EP300 CREBBP DNM1L MN1 MED13 KIAA0586 CHN1 PIEZO2 ARX CCNQ SALL1 OPA1 HP_FOLLICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULITIS MBTPS2 IL10RB XIAP IL17RA IL10RA KRT17 HP_BLOODY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLOODY_DIARRHEA GP1BA TTC37 SKIV2L ADAM17 BMPR1A IL10RA PLVAP ENG WIPF1 GREM1 ITGA2B ITGB3 TTC7A CD109 APC SMAD4 KIF23 WAS ACVRL1 GP1BB DAXX ATRX F5 PTEN HPS1 ITGA2 HP_EPIDERMAL_ACANTHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_ACANTHOSIS TGM1 LIPN KDSR GJA1 EXPH5 SMARCAD1 DSP NLRP1 SERPINB8 POGLUT1 WNT10A CLDN1 CARD14 IL36RN ENPP1 KRT6C JUP NIPAL4 ALOXE3 CAST AKT1 CSTA KRT1 KRT10 SERPINB7 CIB1 CYP4F22 MBTPS2 CERS3 IL1RN AAGAB KRT13 EGFR GJB3 GRHL2 ATP2A2 DSG1 ALOX12B HP_DYSGENESIS_OF_THE_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS SCN9A GABRA1 PCDH19 STXBP1 DNAL4 SCN2A DCC GABRG2 SCN1B NTN1 RAD51 TUBB3 SCN1A HP_CAPILLARY_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_MALFORMATION MTOR NXN LIMK1 RFC2 KRAS ASXL1 FGFR1 WNT5A PIK3CA RBM8A GTF2I KCNQ1OT1 TBL2 DVL1 ROR2 SMC3 ELN CYP1B1 NEK9 CLIP2 CDKN1C KLHL7 MED25 CDK10 FZD2 NAA10 BAZ1B GNAQ KCNQ1 PUF60 DIS3L2 IGF2 DVL3 NOTCH1 TEK GTF2IRD1 LTBP2 MYOC RASA1 HP_SOUND_SENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOUND_SENSITIVITY IQSEC2 LIMK1 RFC2 BAZ1B ELN SLC1A3 EDNRA MLXIPL AUTS2 GTF2I RAI1 TBL2 EP300 GM2A CREBBP TNF DEAF1 GTF2IRD1 CLIP2 ESR1 FLII HP_HYPERGRANULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGRANULOSIS ALOXE3 LIPN GJA1 DSG1 SERPINB7 PNPLA1 POGLUT1 SDR9C7 CERS3 WNT10A CARD14 AAGAB ENPP1 GJB3 ALOX12B LORICRIN HP_FETAL_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_DISTRESS FOXRED1 OSTM1 ATP8B1 NDUFAF5 ALDH7A1 MT-ND1 NDUFS2 NDUFV1 NDUFAF4 NDUFAF1 TIMMDC1 NDUFS3 NDUFAF8 NDUFB10 NDUFAF2 MT-ND2 NDUFV2 CTCF NDUFS4 SLC6A9 ABCB4 RPL11 MT-ND3 NDUFA1 SON NDUFB3 NDUFS7 NDUFS8 NDUFA11 NDUFAF3 TMEM126B NDUFB11 NDUFA6 IL1RN NDUFS6 NDUFS1 NUBPL NDUFB9 HP_FINGER_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SWELLING MMP2 PSMB9 OCRL PSMB8 PSMB4 HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL BAP1 BMP15 LEPR POR TERT SMO NR5A1 FSHR WT1 FSHB SRY MAP3K1 POLR3A ZFPM2 BNC1 LMNA WWOX NR0B1 DMRT3 VAMP7 CYP17A1 SPIDR POLR3H PSMC3IP PDGFB PIK3CA DHX37 SMARCE1 CYB5A LEP CTDP1 TRAF7 GNRH1 GATA4 SMARCB1 ZMPSTE24 TP53 DCAF17 MRPS22 SUFU SOX9 AKT1 NUP107 DHH NF2 HP_CONSTITUTIONAL_SYMPTOM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTITUTIONAL_SYMPTOM PDGFRB BAP1 IL2RA CASR PRSS1 ATRX CLCN4 FKRP FMR1 BLNK MVK SPINK1 REEP2 STK11 COMP PTH1R CLCN5 EPCAM DNAH1 POLG NF1 MEFV TP53 CTLA4 PDGFRA PON1 SACS RPL5 RUNX1 KCNQ1 GPR35 WASHC5 FGF23 TYMP OPA3 GPR101 GRHL2 ARHGEF6 GNA11 DNAL4 GLA HLA-DRB1 DNA2 CCR1 CCR6 TMEM43 GPC3 MLH3 MSH2 EXT1 IL6 POLG2 CCND1 ATP7A KCNQ3 GAS8 LMNA CASQ1 TCF4 ARX BCOR AKT1 MT-TK ALB HLA-DQB1 GBA NEK1 CFI IRF2BP2 ALAS2 MYBPC3 CEL BSCL2 GNAS CAV3 NKX2-1 BCL2 MT-TW CCDC78 CLDN16 PALB2 STUB1 GABRG2 MITF C9orf72 CASK UNC13A ALDH18A1 ACADVL KIF5A TIMM50 POU6F2 ABCG8 TBX19 F12 DAXX C4A COL2A1 MNX1 PDE8B DYSF RPS28 RPS6KA3 SCN8A MMACHC PSMB8 ABCA12 DSTYK ARSA MME MST1 TRAPPC11 FA2H IGHMBP2 CFTR DDHD2 F5 SLC25A11 SCNN1A ERBB4 TEK SLC18A3 WNT3A MPL WT1 DNAAF4 ATXN8OS SUFU NEXMIF AGPAT2 SCNN1B ACAT1 GTF2IRD1 UFD1 COL8A2 SLC26A4 NF2 FAS HNRNPA2B1 CCNF HACE1 DPM3 TSHR PIGY SCN4A SDHD ICOS PSAP LPIN2 IRF5 FOXJ1 LDLR SMO POU1F1 WIPF1 DLST LHX4 HNF1A GANAB TET2 PRDM8 DNAL1 VANGL1 SPG7 TREM2 CLIP2 COMT PYGM HESX1 STAT4 GABRA1 KIT WAS SLC5A5 PEX11B CLCN7 DNMT1 RSPH9 ZFYVE26 KCNN4 IL23R PLEKHM1 DIS3L2 SOD1 ERAP1 FOXP1 MAFB CALR CFH NOP56 ENPP1 DMPK DUOX2 AMPD1 HIRA BRCA1 BCR VCP IQSEC2 DKK1 TARDBP CARS2 FBN1 GCK TGM1 TGFBR2 DOLK MSH6 TGFBR1 PMS1 MYL2 PKD1 PGAM2 HPGD ACADM HBB ZNF41 IGLL1 IRAK1 MEN1 EPOR SCN1B MATN3 UNC93B1 CAPN3 TNFRSF11B MDH2 DNAJB13 RRM2B DNMT3A GALC G6PD PPOX HLA-B BRCA2 CAT MT-TL1 HMGCL DDB2 DCC RPS17 FKTN PRKRA C11orf95 SYP APC IL12RB1 PRKCD POMT1 SLC4A1 KCNC3 ABCA1 SEMA3C MYH3 TGFB1 SLC9A7 PHEX CD247 RPL35A RPS20 PRKACA NOTCH3 CCNO COL5A2 AGXT H19 LEMD3 RPL31 PYGL RPL15 NIPA1 CR2 MYC ACAD9 TRPA1 CAVIN1 NFKB2 MAT1A LRRC56 AP5Z1 NLRP3 ERCC4 FLVCR1 RPL27 DNM1L RTN2 CDKN2B SMAD3 MED12 LIPN HAVCR2 SDR9C7 ASAH1 CHST6 NLRP12 CCL2 TRIM32 PLEC ALAD ERLIN1 NSDHL PRDM5 MCIDAS DAO ATXN10 NAB2 SDHB SLC1A4 VHL GBA2 CHMP2B SLC34A3 DMD PMS2 ERCC5 SLCO2A1 CFAP221 RPS26 CYP4F22 HCFC1 CDKN1B PTPN22 PIGT STK36 AP2S1 HNRNPA1 SLC18A2 GNA14 MSTO1 PROP1 POMGNT1 ANO5 PIK3CA RPS29 COL11A2 MYF6 OFD1 MFN2 SDHC PRKCSH MALT1 SPG11 SLC9A6 FSHR WNT1 ALDOB RREB1 NME8 SBF1 MT-TE GLE1 C1QBP WWOX PHKA1 CFAP298 EDN3 LHX3 SPAST ABCD1 RPS10 LRIG2 BCL10 HGD TNFRSF13C FOXE1 PDCD1 ACTA2 ZBTB16 SMAD4 PRKG1 IFT57 RAD51 KRAS FLT1 SERPINA6 DMGDH CCDC39 ARMC4 ASPN POMP ACADL CNKSR2 COL17A1 SCN9A TCIRG1 ANXA11 MTHFD1 BIN1 ANKRD55 MYH7 PLCG2 SEMA4A GCH1 DGUOK BAZ1B PCSK9 COL9A1 FLNC CAPN1 TRAF3 HS6ST2 CYP7B1 ASXL1 CDC73 SOX2 LRP5 TRAF7 F8 APRT GYPC GCGR CDKN1A DUOXA2 TRIM28 GP1BB CTNNB1 CACNA1G SLC12A3 PIGA MYOT TYROBP CPT1C GFI1 PTCHD1 ACSL4 SLC16A2 MMUT SOX10 STIM1 PSMB9 NFKB1 HFE TPO HARS1 BMPR1A ERCC3 TBX18 CCDC151 MFAP5 TBK1 HADHB TNFRSF11A HSPD1 CLCNKB MS4A1 LOX CHST3 IL12B CRKL PTPN2 SQSTM1 MIF MMADHC RETREG1 TGFB3 FIG4 ALG13 ACSF3 CDH23 BTNL2 PAK3 SMARCB1 VANGL2 RNU4ATAC NOS1 CHCHD10 TBX1 POLE IL12A CD28 CTRC COL9A2 MLH1 CYP27B1 FRMPD4 CCDC40 MT-ATP6 ALOX12B TG KIF11 PHKG2 PDE11A TRPS1 ECE1 IDH2 EDNRB SLC20A2 NKX2-5 SLC40A1 HMBS FHL1 SPTA1 TTC25 SERPINF2 HELLPAR TBCD CHRNA2 CFAP43 PIEZO1 ENO3 RSPH3 TBXT NRTN PHKA2 OTX2 HYDIN SLC25A26 FUZ RPS19 SMARCE1 CD46 TNFSF12 MAT2A CYP2R1 SYNJ1 LACC1 FTL TNFSF15 ALS2 PNPLA2 GBE1 CCN2 ZNF81 DNAH11 RSPH1 PFN1 SLC39A14 SPAG1 LIMK1 SOX3 LBR MINPP1 BIRC3 CPOX JAK2 LPIN1 ESR1 TRAPPC2 EPB42 NTN1 CD79A SH2B3 STAT5B PMP22 CYSLTR2 DNM2 ELN IL12A-AS1 CTSK RELA MLX PNPLA8 PRKAR1A CLCN1 ELANE CD81 THPO PRSS2 SYNE2 RAB39B PPARGC1A ADA2 DNAAF1 ZEB1 EPB41 HABP2 DNAH9 TRPM4 SAA1 DBH SERPING1 RSPH4A XPC RYR1 KLRC4 DDIT3 PSTPIP1 TNFRSF13B PALLD CCDC65 CDKN2A MORC2 MYH11 NOD2 COQ2 AGK IL1RAPL1 SYNE1 MMP2 MRAP GNAQ OPTN MYD88 B2M MAN2B1 OTULIN HLA-DQA1 DNAJC6 SDHA CORIN MLYCD ATM ARVCF NUMA1 MID2 CRPPA OPLAH MAPK1 HBA1 RPL11 TNFSF11 SLC25A4 SCN5A UBQLN2 DNAAF6 KY FOS TSPAN7 PODXL CCDC103 SPP1 SEMA3D ARMC5 TREX1 TBP HLA-DPB1 PPARG PRRT2 BNC2 MET FARS2 PLN NPM1 ANK1 GDNF CDKN2C NAGS DLEC1 DLL3 STAR PORCN SPIB PREPL RET RFC2 NLRC4 REST SRP54 TSC1 CAV1 IDH1 ORAI1 DCTN1 STEAP3 RNASEH1 BVES NABP1 MEF2A FGFR1 MSMO1 HPSE2 DSE JMJD1C INSR NEFH FERMT3 RPS27 RPS7 SCN11A STAT6 VDR PKD2 SPTB TRIP13 TNNC1 TBL1XR1 TMEM126B AMPD3 COL1A2 PROC PRTN3 OVOL2 IL2RB DNAI1 GNPTG ZNF711 BMP2 MTMR14 SULT2B1 STX16 SLC26A2 CFAP410 RNF6 LMNB2 PLP1 PAX8 GDI1 POLR3A SCNN1G CPT1A ERCC2 MMEL1 PSMB4 MYLK LRRC6 UFSP2 DNAAF5 GHSR STOX1 TNXB VSX1 KCND3 ANKH NGLY1 SEC24C TRPV4 EPHA4 ABL1 SLC2A1 DNAAF3 ISL1 TNFRSF1B OPA1 KCNE1 CBL ATP13A2 RPS24 PGM1 GATA1 SDHAF2 ATXN3 SLC25A13 SEC63 PDGFB PGK1 FTSJ1 TGFB2 SLC11A1 PON2 UPF3B CPT2 FUS HADHA IGHM HOGA1 PTEN CPA1 PML RPGR HSPG2 SCARB2 RPL26 PROS1 CACNA1H APOB CD19 CXorf56 AUH COL11A1 FH SCN2A ADNP MATR3 CFAP300 PON3 CHRND SFRP4 BCL6 CYP19A1 SPEF2 ZNF687 ZNF469 TBX6 ZMYND10 C1S SEPTIN9 COQ7 NIPAL4 KIF1B AIP HTRA1 GLT8D1 TAZ SALL1 TNFRSF1A TWNK IKZF1 UBAC2 DNAI2 TP63 EXT2 ABCC2 RARA LMX1B RB1 NEK10 EPAS1 SLC2A10 TFR2 PROKR2 EWSR1 KCNQ2 SLCO1B3 TLR3 SNX10 TAF15 MESP2 FIP1L1 ATL1 TNPO3 ATXN2 TREH TXNRD2 MECP2 ALOXE3 HLA-DPA1 LRRC8A TSC2 TLR4 CNBP DMP1 FAN1 NOTCH2 PANK2 CHEK2 DACT1 COPA TICAM1 SF3B1 BICC1 GNE RPS15A NR3C1 TERT CRLF1 TTR PTPN11 RBCK1 GAS2L2 GTF2I XPA GUCY2C EMD FLI1 KIF23 GJC2 TSHB USP27X MC2R CA2 ATP7B DNASE1L3 TK2 IL10 IFNGR1 COG5 LDLRAP1 RPL18 RNF168 INHBA SLCO1B1 POU2AF1 STAT3 VPS13A PRPH DNAH5 TSR2 AGTR2 NNT HNF4A COL5A1 TTC12 GLI2 HEXB ABCG5 JRK FOXA2 GABRB3 PTPN3 C19orf12 TMEM127 CD79B GATA2 HPS1 SELENBP1 LPL TH SRSF2 ARNT2 IYD SLC3A1 STING1 DLG3 COL1A1 ANG VAPB TRIO TBL2 RPL35 DNAAF2 MAX DRC1 TCF3 MCM6 PIK3R1 IL1RN ACTG2 LDHA PRNP CCDC114 BTK COL9A3 CD55 USP9X FOXE3 USP8 HBA2 FDX2 HP_CHILLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILLS EPB41 TBK1 SLC4A1 SPTA1 HADHB GYPC TICAM1 SPTB ANK1 HADHA TLR3 EPB42 TRAF3 HAVCR2 UNC93B1 HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY CCDC47 SCO1 MICOS13 SC5D IFT172 NDUFB8 PEX19 NOP10 MPI PEX16 TACO1 COG7 OSTM1 PARS2 ATRX CPT2 SURF1 HADHA TJP2 GBE1 GPR35 PET100 WRAP53 HADH EPM2A PEX1 COQ2 PEX5 ACVRL1 FAH COG4 ALDOB PEX6 MT-ND1 BLVRA CYC1 PEX26 STT3B AKR1D1 SLC39A8 COX10 HLA-B CC2D2A TCF4 MPV17 FADD SCO2 NDUFS2 USP18 MT-TT TTC37 DLD FARSB BSCL2 HSD3B7 TMEM67 PEX10 COA8 OCLN IL21R SLC30A10 SP110 MT-ATP6 COX8A SMPD1 DAXX IKZF1 LIPA RPGRIP1L LARS1 MARS1 SLC25A20 MOGS MST1 PEX12 NBAS PTPN22 ALG6 XIAP COG2 F5 RTEL1 CYP7B1 ABCD3 UBR1 NDUFS4 FOS NR1H4 TNPO3 MT-TN FBP1 AGPAT2 ACAD9 TINF2 NHLRC1 F13A1 MRPS7 MT-ND5 PPARG RMND1 CAVIN1 NAGS NPC1 PEX14 GALT PORCN JAG1 SPIB GPC1 PEX11B GANAB COX6B1 TMEM199 INPP5E HBB LIPT1 GDF2 COX14 PEX2 ATP7B DGUOK PCK2 POLG NPM1 DDOST ALG1 ALG9 POLG2 SLC25A15 COA3 POU2AF1 SMAD4 SCYL1 VPS13A TFAM FH GBA UQCRC2 PCK1 CACNA1S BTNL2 SH2D1A OTC ITCH ACADM TERC IL12A CCDC115 SERPINA1 TERT FECH ALMS1 HMGCL PHKG2 MT-ND4 GFM1 PEX13 MEFV PARN IL12RB1 LARS2 BCS1L MT-TL1 RYR1 TALDO1 MT-ND3 CAV1 MT-TK CEP164 MT-TW ADK CPT1A MT-ND6 MMEL1 MT-ND2 JAK2 RNU12 PHKA2 NDUFAF3 COX20 IRF5 NHP2 SLC7A7 HLA-DRB1 MT-TV PEX3 TRMU IARS1 EIF2AK3 ENG USB1 HADHB ALG8 CTC1 TNFSF15 IFT122 TRMT10C AMACR DKC1 F13B MTM1 ASAH1 HP_ABNORMAL_TEMPER_TANTRUMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPER_TANTRUMS CTCF PACS1 ADNP CTNNB1 USP7 TUBB2B PPP2R5D HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION PPCS GTPBP3 TWNK DYSF POLG2 SGCG SLC25A4 POMT2 RRM2B DMPK LAMA2 TTN POLG HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET SCN9A GABRA1 SLC6A1 PCYT2 PCDH19 CPLX1 KCNQ3 STXBP1 CHD2 JRK AP2M1 CILK1 CACNB4 SCN2A CLCN2 TBC1D24 GABRG2 SCN1B SLC9A6 TMX2 GABRD EFHC1 SCN1A HP_CUTANEOUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_CYST TFAP2A CEP57 KRT17 KRT6A TSC2 APC KRT16 ZSWIM6 MSX2 TSC1 SYT1 CDH1 ALX3 VANGL1 KRT6B ANTXR1 CTNND1 HP_DERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMOID_CYST SYT1 TFAP2A ALX3 VANGL1 ZSWIM6 MSX2 HP_SNORING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SNORING EDN1 AHDC1 GPR101 GNAI3 PLCB4 HP_STUTTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STUTTERING MT-CO2 MT-ND6 MT-CO1 MT-TF MT-TW CHD3 MT-TS2 MT-TQ MT-ND5 SCYL1 MT-TL1 MT-ND1 MT-ND4 MT-TH AP4E1 MAPT MT-CO3 HP_ABNORMALITY_OF_ESOPHAGUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ESOPHAGUS_PHYSIOLOGY PPM1D CCDC47 CTBP1 DNAJC13 LIMK1 LBR NEB ELP1 FMR1 KCNAB2 GPHN GBA SLC13A5 ATXN8OS AFF4 FOXG1 FGFR3 TCF4 COG7 SLC6A9 ELN ADCY6 CNKSR2 STAG1 SACS SLC1A2 TBP SYT14 ATRX RRM2B TK2 PRPH GNAQ SMC1A SLC52A3 TYMP CHMP1A FGFRL1 MAPT CHD7 SCN8A PDP1 FAM13A STN1 SYNJ1 SNCA ADD3 CDKL5 CLCN1 PCNA WWOX NFIX CCR6 CHRNA1 GFPT1 TRAK1 VAPB POLG2 PRKCSH NCAPG2 NR4A2 MCEE MEGF10 SLC5A7 VPS13A TGM6 PHGDH NUP62 ATP1A3 WDR26 GIGYF2 COLQ HLA-B ORC6 ATXN3 SHANK3 GABRA2 SCO2 NDUFS2 KMT2A SETBP1 RAI1 SLC35A2 CACNA1G TFAP2A SEMA3E CAMK2B POLG COL13A1 MYMK REEP1 GCH1 STUB1 MECP2 TOP3A COL7A1 CACNA1B PABPN1 ASCC1 HLA-DQA1 IRF5 TRAPPC12 SDHD DNAJB6 SFTPC SLC19A2 FTL KIAA0319L SKI RAD21 HGSNAT COQ4 PIGN NALCN ARVCF FLCN TPM2 EXOSC9 LRP12 KIAA0586 SCARB2 RERE SQSTM1 PLP1 KLHL7 WFS1 LAMA2 ATXN1 MYH8 DDHD2 IQSEC2 VARS1 GEMIN4 AR NECTIN1 HNRNPH2 ALDH18A1 SELENON TAF1 GALC KY ASCL1 EXT2 PUS3 SFTPA2 NTNG1 MYO9A TSPYL1 MMP1 CNTNAP1 PLEC OCRL ZSWIM6 DGUOK NEXMIF FARS2 PFN1 QDPR EEF1A2 KCNB1 ATP11A TUBB4A LTBP4 TECPR2 UBQLN2 GTF2IRD1 MT-ND5 ADAMTS2 UFD1 CHCHD10 LETM1 MUC5B DDC ZFYVE26 NPC1 HLA-DQB1 TBC1D23 C9orf72 CACNA1A ALS2 TARDBP RPL10 PORCN SCN4A SH2B1 RARS1 PSAP SLC52A2 RFC2 SLC6A5 AGRN GABRG2 CTHRC1 ACTA1 SNAP25 MYORG MACF1 SLC9A6 CAV1 SNCAIP LRRK2 PRKCG ATP7B ARNT2 CLTC RNASEH1 NSD2 ANKRD11 DEAF1 SPG7 MAP2K2 ATXN2 CHMP2B TERC CLIP2 COMT NECAP1 PYGM SZT2 CHRNE HLA-DRB1 JMJD1C AARS1 PLAA WNK1 UBA5 SOX5 NOP56 PCGF2 NEK1 ERLIN2 DMPK HIRA MSX1 MRPS34 SOD1 DKK1 RETREG1 STXBP1 CARS2 SYT1 RNF125 YWHAG FLNA CPLX1 SLC25A1 ECM1 PARS2 SLC19A3 TIMM8A PYCR1 TPM3 IRF2BPL PTS KCNA2 LMNB1 KCNK9 ATXN7 PARN RYR1 MED12 ASPA SLC25A24 FBXO7 PRKRA CHAMP1 KIT MFF MT-ATP6 SDHB MT-TL1 GLRB NDUFS1 KCNC3 TANGO2 MT-ND3 SLC18A3 PIEZO1 MT-TW TBX1 CDH1 MT-ND6 FA2H HPCA USP7 ERMARD NOTCH3 FGF12 NDUFAF3 DHDDS CLCN4 HPRT1 CAVIN1 NGLY1 SPECC1L GDAP2 SEC24C HIVEP2 CTNS MAGEL2 MGME1 EIF4G1 DLX4 GRHL3 HCN1 SYT2 LAMB2 DNM1L MSR1 TERT TRMT10C SLC25A4 CDC6 SON POLR3A SYNGAP1 DPP9 HDAC8 MEIS2 TUBB6 SDHC BRAF OPA1 DCTN1 IRF6 LIFR DNM1 DHCR7 TRIP4 NEFH VAMP1 SCN3A ATXN10 NDUFB8 ADH1C SLC1A4 SEC63 PDGFRA ACTL6B UBTF SMG9 SURF1 ATP6V1A AMER1 NIPBL SAMD9 IDH2 SALL1 FUS PRDM16 PLA2G6 NEUROD2 MATR3 DSP PANK2 GMNN VAC14 GNS SPG11 GNAO1 KLHL41 RREB1 ARFGEF2 MT-ND1 ADNP NTRK2 LONP1 PIK3R5 XRCC1 PHOX2B HTT CHRND SMC3 RET ACOX1 KAT6A LINGO1 RHBDF2 FARSB NPC2 YY1 ASXL1 NRXN1 MYOT ADAR MAP3K7 TMTC3 MLXIPL COQ2 POLR3B KIF5A AFG3L2 MED17 CYP27A1 FXN ABCA3 TWNK IKZF1 GABBR2 PAK1 CYP7B1 FCSK SFTPA1 TTBK2 SPG21 CARMIL2 SSR4 PMP22 SLC2A10 GBA2 BAZ1B FLAD1 RTEL1 CYFIP2 GRM1 VPS35 CHAT GJB1 CDC73 SERPING1 TP63 LRP5 REPS1 ATP7A SLC46A1 TBX4 AP3B2 GP1BB REV3L NEDD4L NONO GRIN2D MYH7 SHROOM4 EPRS1 DLG1 PIGA NUS1 NDUFAF2 ARHGAP29 CRYAB DYSF ATN1 CRLF1 ADAT3 PLXND1 B4GALNT1 YARS2 GTF2I TWIST1 MID1 LMX1B ATAD1 NUP214 HRAS SLC25A22 TBK1 PIGT MECR KBTBD13 ATP13A2 PIEZO2 IRX5 PSPH NPHS1 POGZ NDUFA6 PSEN1 APP SEC23A DDOST PNKD GRHL2 LMOD3 HOXB1 PRPS1 EHMT1 NDUFS3 NF1 KIF1A KLHL40 MYPN ARV1 KAT6B ASAH1 RLIM ACTB SLC6A3 PUF60 FRG1 MPZ SPART ITGB4 PGM3 PRNP NOS1 ARX ORC4 C19orf12 TBC1D24 EBF3 ABCD4 ORC1 WASHC5 FLII SETD5 CCDC22 PACS1 IDH1 PPP3CA NDUFA9 MT-ND4 FBXL4 GABRB2 CNTNAP2 GUCY1A1 CCN2 TBL2 CTCF OPTN UBB ARF1 MT-TK BMP4 GABRD TBCD SETX FERMT1 GLRA1 MT-ND2 VCP PEX16 SCN9A CSPP1 GMPPA SDHA ACTG2 MT-TV FBN1 GABRA5 CAMTA1 DAB1 PYROXD1 C12orf65 STAC3 SIK1 PDE8B SNRPB KCND3 MAP1B ARID2 GLUD2 HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY KRT14 SHANK3 CBL TRIP4 SOX3 EDARADD SCN11A VHL BIRC3 ELP1 KRT17 EDAR STS JAK2 SDHB SDHAF2 NOP10 TSPEAR NTRK1 NIPAL4 NF1 EDA2R SLURP1 HINT1 SCN9A MLX SLCO2A1 PHOX2B CTSB CLCF1 TMEM127 THPO NGF WRAP53 DSG1 SLC13A5 EDA SLC18A2 GNA14 GLA SDHD MALT1 COL17A1 GDNF ALDOB ERCC8 PKP1 COL11A1 SDHC FH TRAF6 COG6 GPR101 RUNX1 COQ2 BCL10 TP63 BSCL2 KRT16 GJB2 CST6 KCNJ11 AIP TAT CERS3 COL6A3 ALOXE3 SDHA HLA-B MBTPS2 ABCC8 RSPO1 CASK KRT5 RET IKBKG LIFR IGHMBP2 LAMB3 EPAS1 PTPN22 LAMC2 SLC25A11 DST RTEL1 PROKR2 ASCL1 ROGDI GJB6 FOS MPL ASXL1 SOX2 SERPINB7 TP53 AGPAT2 TINF2 KCTD1 ARX PPARG CAVIN1 SLC12A3 NLRP3 DDC FAM111B TGM1 CRLF1 RIPK4 KDF1 HPGD CSTB PRDM12 LAMA3 ERCC6 DLST ADAT3 MEN1 HNF1A CACNA1S KLC2 TET2 ALOX12B ZFHX2 STIM1 KRT9 CLCNKB LMNA FGFR1 IL12B PNPLA1 SPR ST14 HESX1 NPM1 ITPR2 COL6A2 RETREG1 FUCA1 PLAA KRT6A WNK1 SOX10 FOXP1 KIF1A SUCLG1 GHR WNT10A TRPV3 KRT1 UCP2 DKC1 HNF4A NECTIN1 HEXB JUP PRNP EDN3 COL6A1 NFKBIA ABCA12 TERC CLDN10 MDH2 SMARCAD1 SRSF2 DNMT3A TERT ARNT2 LMNB1 SPTLC2 PARN ELOVL4 FLRT1 OTX2 HMBS MAP2K2 CAV1 MAX KIF1B BLM GMPPA KCNJ18 PERP ITGB4 NHP2 NGLY1 ALX4 KCNA1 CDH23 CTNS CUL4B USB1 ZMPSTE24 KRT6B MAP2K1 BCS1L CTC1 POLA1 BRAF GABRA3 HP_MALAR_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_RASH STING1 CASP10 FCGR2A CTLA4 STAT4 TREX1 IRAK1 DNASE1 PTPN22 FCGR2B SPP1 CDK10 HP_OVARIAN_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CARCINOMA RAD51C SMAD4 PTEN BRCA2 PALLD CDKN2A PTCH2 PALB2 PTCH1 DMPK SUFU BRCA1 TP53 KRAS HP_ABNORMAL_ARTERIAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY AGXT COQ2 RNASEH2A SERPINC1 PLOD1 LBR STING1 COL4A1 GUCY1A1 FKBP14 ADAR SPP1 RNASEH2B TET2 IFIH1 NT5E ABCC6 RNF125 TREX1 ZMPSTE24 SAMHD1 RNASEH2C MPL PLOD3 CLCNKB LMNA XYLT2 SLC12A3 XYLT1 STAT4 IRAK1 JAK2 ADA2 HP_UPGAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPGAZE_PALSY POLG KCNC3 TWNK ATP13A2 ATXN1 HP_DELAYED_ABILITY_TO_SIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_SIT PCYT2 WDR26 WASF1 NGLY1 TRIO UGDH EXTL3 TUBB3 HP_RED_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_EYE VPS33A XPC IL12A MPLKIP LBR NLRP3 BLNK PSMB9 WIPF1 MAPT CD79A XPA FGFR2 TP63 CD19 MEFV IL12A-AS1 SAMD9 DNASE1L3 LMNA NLRP1 IL10 IGHM CD79B GTF2H5 WAS AIRE STAT4 DDB2 IL23R GJB2 ERF HLCS ERCC3 ERAP1 UROS BTK IGSF3 CCR1 LRBA TNFRSF13C DKC1 BTD AEBP1 KLRC4 RNF125 BTNL2 FOXC2 COL7A1 HLA-B PLG MMP1 RAG1 ERCC2 NOD2 IGLL1 GTF2E2 RNF113A TNFRSF13B ICOS GSN CR2 TARS1 GNAS B2M RAG2 STX16 ERCC6 TNFRSF1A C4A IKZF1 UBAC2 MBTPS2 SCN9A PSMB8 FERMT1 TCF3 TFRC PSMB4 PIK3R1 SLC39A4 AP1B1 FOXE3 GJB6 HLA-DRB1 IARS2 TKT ZMPSTE24 LRRC8A MAB21L1 TLR4 POLH USB1 GATA1 FAS HP_LUPUS_ANTICOAGULANT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUPUS_ANTICOAGULANT STAT4 IRAK1 TNFAIP3 SPP1 ADA2 HP_ABNORMAL_CELLULAR_PHENOTYPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELLULAR_PHENOTYPE DOCK8 MICOS13 SMARCAL1 NDUFS1 LIPT1 MCPH1 MPLKIP NHEJ1 SUCLA2 CLN6 BLNK BACH2 FANCL MVK IKBKB CD79A SLC22A5 TSFM STAT3 MT-ND2 XPA TNFRSF13C CD19 AICDA GPC3 LIG4 ERCC3 IRF2BP2 NDUFS8 NEB NADK2 CASP10 RELA ECHS1 BRIP1 MOGS SFTPC ASAH1 NDUFS7 RRM2B BOLA3 GPR35 TK2 CD81 MRPS14 ZAP70 ADA2 TYMP TTC37 TSC1 ATM TRNT1 GFER CLCA4 PDP1 PNPT1 HADH BTK LAT TERT TYK2 LRBA MT-ND4 RAD50 NDUFS3 AUH PET100 NDUFAF8 NDUFV2 ERCC8 TRIP13 NDUFAF2 MYD88 DGCR8 IKBKG PSTPIP1 KRT9 HSD17B10 TNFRSF13B TCF4 MT-TQ AKT1 DCLRE1C MCOLN1 CTLA4 NDUFS2 AGK KRT18 TBX1 GBA NDUFB11 RNF113A ICOS MTOR ESS2 CA2 BSCL2 ESCO2 SLX4 GPC4 TIMMDC1 NDUFB10 CHCHD10 TMEM70 FASLG MT-CO3 TIMM50 FANCF NSMCE3 HGSNAT SERAC1 ERCC2 CD40 ARVCF RAG2 SLC25A20 PSMB8 FANCA NFKB2 TFRC SQSTM1 DGCR6 ATP5F1D MST1 SPINK5 FANCI NDUFS6 FANCB FOXRED1 NDUFV1 RAG1 XIAP UNG PLA2G7 XRCC2 TPP1 NDUFAF4 FOS IL2RG IGHM FAS GNPTAB CXCR4 RFXAP UBE2T SDHA UNC13D GLRX5 SUFU AGPAT2 ATAD3A CLN3 RHAG VPS45 MT-ND5 LMNA PMM2 UFD1 PPARG SLC2A1 HADHA MT-TH NDUFAF3 SP110 NF2 TMEM126B SLC19A3 C9orf72 TARDBP RFXANK KCTD7 SPIB FANCM ERCC4 CD3D FANCE PIK3R1 CLN5 HELLS ERCC6 SMO TONSL XRCC4 KRT8 NDUFA12 ZBTB24 DGUOK CD3E BAP1 EXTL3 SPG7 NLRP1 B2M COG6 TXN2 COMT HLA-DRB1 DNMT1 SKIV2L JMJD1C MT-ATP6 MT-TL2 TRMT5 PEX5 PDHX UMPS DNMT3B HIRA LEP CTNS BRCA2 CACNA1S CARS2 DNAJC5 MT-CO1 CCND1 KLHDC8B JAK3 CARD11 OPA3 NDRG1 PREPL ACADM BRCA1 IGLL1 STX1A CISD2 MT-ND6 EPG5 CR2 SDHD TARS1 FANCG LEPR IL2RB ETFDH COX15 MT-ND4L PLVAP HMGCL MAD2L2 ZMPSTE24 C11orf95 FOXP3 RTEL1 SLC25A3 IL12RB1 NDUFA10 RMRP CSNK2A1 ACAD8 CAV1 DGCR2 CPT2 MTFMT CCBE1 NDUFB3 MMEL1 KCNJ10 PSMB4 CIITA NDUFA2 MT-CO2 AK2 MAGT1 BLM IRF5 IGKC RAB27A IL2RA ACTN2 DNA2 ACAD9 RNF168 SLC7A7 NDUFA4 CAVIN1 TIMM8A SEC24C PPM1B TRMU ADA MGME1 WIPF1 GJA1 PDHA1 NBN WAS MS4A2 NDUFA9 DSP PRKCD DLAT SLC25A4 SON MT-TL1 PANX1 PALB2 CLCN7 TNFRSF1B UVSSA CAMKMT MYSM1 PMVK XPC RNU4ATAC NDUFAF6 NDUFAF5 MT-CYB RFWD3 PIGM POLG MT-TE ALB MT-TF KRT1 SLC39A4 NDUFA13 MT-ND3 RIPK1 CD79B GTF2H5 FUS DDB2 LRRC8A NEUROG3 SCARB2 PIK3CA HYOU1 GNS TNFRSF11A MT-ND1 ELANE NFE2L2 ATPAF2 IL4R DCTN4 RREB1 CD40LG HIBCH SLC39A8 LBR ZP2 CFTR ALG12 GTF2E2 TCN2 IL21 NRAS HTRA2 SH3KBP1 FANCC MSN CARD9 CTPS1 CLN8 MAN2B1 RASGRP1 TAZ AFG3L2 POMP LAMTOR2 ACADL SHH MYH14 FANCD2 SDHAF1 TP53 MECP2 MS4A1 MTHFD1 CARMIL2 MYH7 PLCG2 ERCC5 GTPBP3 POLG2 PDGFB TCF3 MT-TS2 ATP6AP1 NDUFS4 ISCU SAMD9L ETFA TNPO3 TRAF7 PNP EARS2 SLC46A1 GP1BB SLC25A13 CNBP TGFB1 CLPB RAD51 VPS33A SFTPA2 TTN TACO1 TWNK GNE ETFB PSMB9 NFKB1 CD247 KIF23 OCRL MT-TN TBK1 PIGT IKZF1 PTEN IFNGR1 FMR1 NDUFA6 SURF1 SEC23B CDCA7 STXBP2 POU2AF1 BCL10 IBA57 MUC5B RFX5 ADAMTS3 RAD51C NKX2-5 SMARCB1 DNAJC19 TNFRSF11B SLC3A1 SH2D1A CYBA MT-TW PGM3 NDUFA1 GYG1 NDUFA11 IL12A CD28 IL7R ATXN2 STING1 NDUFAF1 FBXL4 RYR1 PIK3CD DLD RBM8A ACADVL CD70 IL6ST SETX VCP CYBB ATP5F1E NDUFB9 GATA3 TNFSF12 CDSN ITK CDAN1 FXN CD27 SLC25A26 CASP8 SMARCE1 CD55 BUB1B RAI1 COL1A1 IFIH1 TNFSF15 MRE11 FLNA FAT4 NFU1 NUBPL KRAS HP_PSYCHOMOTOR_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_RETARDATION VLDLR VPS33A POMK GBA TBC1D24 PTS TARS1 MPLKIP TMEM67 FANCE PEX1 PCCA GCH1 FGFR1 MECP2 SMPD1 SURF1 HMGCL ALG3 ACY1 MCCC1 EPG5 AIFM1 KYNU RBPJ HESX1 SERAC1 TWNK ALDH5A1 NALCN SDHA ATCAY PCCB DDX11 PSAT1 BCS1L VRK1 CFAP43 LAMB1 COX10 GTF2H5 ALG6 SIL1 MRPS22 LRPPRC LAMB2 COX7B ALDH18A1 TMEM70 ERCC3 PIGV TINF2 ALG11 CWC27 TNFRSF11A KAT6B ATPAF2 COX15 GK BMP4 AUH HAX1 PDHA1 RNF125 C12orf65 DOCK6 QDPR ABAT MCCC2 ALG1 DLAT RDH11 PMM2 ERCC2 PC NFU1 SLC25A15 MVK SLC19A3 MEIS2 ALG12 SLC33A1 CD96 GTF2E2 EMC1 RPIA RNF113A SYT14 HP_UVEAL_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_ECTROPION COL8A2 GRHL2 CPAMD8 VSX1 OVOL2 ZEB1 HP_INTERICTAL_EEG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERICTAL_EEG_ABNORMALITY GNB1 SCN2A EFHC1 DNM1 ABCC8 PIGY ASNS CHD2 VAMP1 SYNJ1 LMAN2L ATP6V1A SCN3A STXBP1 SLC1A4 SLC13A5 CRADD SAMD12 SCN8A CDKL5 ACTL6B KCNJ11 SETBP1 SPTAN1 ALG11 CNKSR2 GABRG2 PARS2 LINS1 SCN1A DPM2 SLC1A2 MED13L TBC1D24 ADGRV1 GRIN2B ERMARD NEUROD2 TBCK JRK ALG2 PHGDH CACNA1H WWOX CLCN2 SCN9A PRRT2 TRAK1 PPP3CA CNPY3 NDUFAF8 GABRD SLC45A1 SLC5A7 GUF1 HIBCH EEF1A2 SIK1 CPLX1 KIF1A PLCB1 COQ2 NTRK2 SLC39A8 PIGG KCNB1 GABRB1 ARX GABRA2 SLC25A22 ZC3H14 CLIP1 PIGP SLC35A2 GABRA1 CASK MECP2 PIGQ AIMP2 PDSS2 MYD88 COL13A1 DCPS NRXN1 NF1 CUX2 CACNA1B TRAPPC12 MED17 STRADA TIMM50 KCNMA1 PIGC PIGW UGDH STARD7 AP2M1 FBXO31 GFM2 PIGA MED25 SARS1 GCK HCFC1 MBOAT7 GLUD1 TRAPPC9 CC2D1A CYFIP2 CILK1 KCTD7 MED23 DOCK7 ST3GAL3 TRIM8 PNPO C12orf4 NEXMIF SCN1B IER3IP1 AP3B2 EZR GRIN2D PSAT1 PIGV FGF12 NUS1 CACNA1A GLYCTK MYO9A NSUN2 TNIK GRIN2A CCDC88A DMXL2 AGRN KCNQ2 SNAP25 GRIK2 ALG3 ZNHIT3 SCARB2 SLC6A1 CLTC TGFB1 PIGT ALG13 FMN2 PRICKLE1 ARHGEF9 SRPX2 ROGDI ATAD1 CACNB4 CACNA1E NECAP1 PTS SZT2 INS ST3GAL5 KCNQ3 AARS1 PIGO FRRS1L NHLRC1 UBA5 HCN1 PRSS12 ARV1 KDM5B PIGL GNAO1 PHACTR1 CARS2 SYT1 EPM2A YWHAG CSTB PGAP1 ATXN10 MAN1B1 SLC25A1 RSRC1 GABRB3 IQSEC1 CLTCL1 PDX1 TUBB2A PCDH19 PNKP KCNA2 B3GALNT2 NDST1 HMGCL GABRB2 CNTNAP2 KCNT2 HNMT CHAT MFF METTL23 WASHC4 STX1B KCNA1 SLC18A3 WDR45 TUBGCP2 TUSC3 AIMP1 NACC1 RPL10 IQSEC2 DHDDS CLCN4 UPB1 EDC3 CRBN GABRA5 DOLK IARS2 TECR ARFGEF2 MAPK10 SLC2A1 SYT2 PGAP3 SPATA5 SYNGAP1 PGAP2 GABBR2 PLAA HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY SFTPC ABCA3 FAM13A STN1 DSP RTEL1 TERT ATP11A BMPR2 TERC CSF2RA PARN DPP9 MUC5B SFTPA1 SFTPA2 ASAH1 CSF2RB HP_STARING_GAZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STARING_GAZE MYO9A SLC5A7 SYT2 VAMP1 COL13A1 SLC18A3 AGRN PNKD SLC25A1 PRRT2 SNAP25 NGLY1 CHAT ATXN1 SYNJ1 HP_STOOPED_POSTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOOPED_POSTURE MECP2 COL12A1 POLG SLC18A2 ATP13A2 TK2 HP_ABNORMAL_VISUAL_FIXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIXATION RANBP2 ASPA CLP1 SLC39A8 ASAH1 ITPR1 HP_VISUAL_FIXATION_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIXATION_INSTABILITY ASPA CLP1 SLC39A8 ASAH1 ITPR1 HP_DIFFUSE_ALVEOLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE TBL1XR1 NPM1 ZBTB16 NUMA1 STAT3 NABP1 BCOR RARA FIP1L1 STAT5B PRKAR1A PML IRF2BP2 HP_ABNORMAL_LARYNX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_MORPHOLOGY SOX4 MATR3 HAAO MGP PCNT KRAS KRT16 AFF4 IFT80 EIF4A3 MYMK TONSL MEIS2 SOX9 FGFR2 MAP3K7 LRP4 EP300 FLNB HYLS1 EXTL3 COL12A1 COMT POR SLC26A2 AMER1 KCNMA1 LAMA3 GLI3 SERPING1 SF3B4 JMJD1C LTBP3 HSPG2 GMNN WDR35 KAT6B RPL10 KANSL1 HIRA SCARF2 PUF60 RREB1 FOXE1 VPS13B LAMC2 PTH1R SYT1 FRAS1 SEMA3E UBE3B TBX3 CREBBP GRIP1 CHD7 BRF1 LMNA ORC6 KIF22 TBX1 WDR34 SNIP1 SETBP1 KAT6A HOXD13 KRT17 MT-CYB NEK1 WRN WDR60 FREM2 C2CD3 ATP6V1E1 DYNC2H1 TCTN3 PRRX1 NFIX POLR3A ARVCF LRP12 FERMT1 APC KIF7 AHDC1 LAMB3 INTU HDAC4 PSAP SPECC1L GALC SEC24C NIN EDN1 SMAD4 KRT6B PRMT7 GP1BB LTBP4 KRT6A UFD1 EFL1 FLNA ASAH1 LBR HP_ABNORMAL_LARYNX_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_PHYSIOLOGY PFN1 OPTN DAO CHMP2B ANG C9orf72 GLT8D1 VAPB CFAP410 UNC13A DCTN1 TBK1 GABRG2 PON2 SRPX2 PON1 TREM2 CASR GRIN2A LAMA3 ANXA11 PPARGC1A BRF1 NEFH HNRNPA1 LAMB3 SOD1 FIG4 ERBB4 UBQLN2 TAF15 PRPH TSPYL1 SQSTM1 BTD EPHA4 ATXN2 VCP LAMC2 TARDBP FUS UBE3B GLE1 TAF1 CHCHD10 MATR3 PON3 SCN4A NEK1 ASAH1 CCNF HP_LARYNGOSPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOSPASM PFN1 NEFH HNRNPA1 SOD1 OPTN FIG4 ERBB4 UBQLN2 DAO TAF15 PRPH CHMP2B TSPYL1 ANG SQSTM1 C9orf72 GLT8D1 VAPB EPHA4 CFAP410 ATXN2 UNC13A VCP DCTN1 TARDBP FUS TBK1 GABRG2 GLE1 PON2 SRPX2 PON1 TREM2 CHCHD10 MATR3 CASR PON3 GRIN2A SCN4A ANXA11 NEK1 CCNF PPARGC1A HP_ABNORMAL_BRONCHUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_MORPHOLOGY CCDC39 RSPH1 SCNN1G ARHGEF1 CD79A CCNO ICOS SPAG1 DRC1 TAP1 FLNB FOXJ1 MGP MCIDAS PIK3R1 BLNK RSPH4A BACH2 RPGR NFKB1 GAS2L2 IRF8 STAT1 GAS8 SOX9 DNAH1 CCDC151 CD19 DNAL1 TTC25 RIPK1 MS4A1 TERC B2M IGHM POR CD79B CFAP221 SLC26A2 ZMYND10 CD81 FGFR1 LRRC56 SLC29A3 DNAAF1 MYRF RSPH9 ATM STK36 EHMT1 DNAH9 FAM13A STN1 DSP ERF GMNN RSPH3 OFD1 LRBA TNFRSF13C DNAH5 DNMT3B HYDIN NME8 BTNL2 TTC12 CCDC40 NEK10 CFTR RAC1 IDS PGM3 IL17RA DNAI2 TNFRSF13B CCDC65 CFAP298 ORC6 ORC4 CTLA4 CFAP300 IGLL1 LRRC6 HRAS TAP2 CD8A DNAI1 ZNF341 DNAJB13 BLM SPEF2 CR2 PARN DNAAF4 FGFR2 RASGRP1 SCNN1A IL21R ARMC4 PIK3CD SFTPC RIN2 ABCA3 DNAAF3 DNAAF2 CXCR4 IL6ST FCGR2A NFKB2 TCF3 SFTPA1 CARMIL2 EGFR TNFSF12 DNAAF5 TGFB1 TAPBP RTEL1 HLA-DRB1 NBN DNAAF6 CCDC114 SCNN1B DNAH11 SFTPA2 CCDC103 GNPTAB LRRC8A PRKCD TERT ATP11A LTBP4 DPP9 MUC5B IL2RG HP_ABNORMAL_BRONCHUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY ACAN DAXX ERCC3 TARS1 MPLKIP ATRX ERCC2 IFNGR1 TSPYL1 SDHD GTF2E2 GTF2H5 RNF113A HP_ABNORMAL_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRY MYO9A MYL2 MECP2 NIPBL SEMA5A VAMP1 COL13A1 AGRN NRXN1 ACTA1 RYR1 CRYAB ASPA SNAP25 CNTNAP2 OPA1 CHAT VPS13B SLC18A3 EXOSC9 TPM2 LAMA2 IGHMBP2 CHRNE SELENON LAMA3 SPECC1L TPM3 CHRNA1 GFPT1 HACD1 TSPYL1 ATP5F1A ITGA7 SLC5A7 PNPO CTNND2 SYT2 COLQ MAP3K20 LAMB2 COQ9 ABAT MYH7 SLC25A1 FKTN TRIP4 ASAH1 HP_HIGH_PITCHED_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PITCHED_CRY ATP5F1A PNPO CNTNAP2 MECP2 ABAT NRXN1 HP_INCREASED_LACTATE_DEHYDROGENASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LACTATE_DEHYDROGENASE_LEVEL HBB CHEK2 KCNN4 MYC ACAD9 RHAG JAK2 SLC7A7 RPS14 CALR CFH MPL CD46 SPP1 FLI1 PLEC TP53 SLC4A1 HELLPAR SLC25A13 USB1 RB1 PIEZO1 STAT4 IRAK1 PNPLA2 TET2 CFI HP_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHARYNGITIS ELANE TCIRG1 PTPN22 SRP54 NFKB2 SH2D1A XIAP TNFRSF1A CXCR4 GFI1 SLC29A3 HP_PYODERMA_GANGRENOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYODERMA_GANGRENOSUM PSTPIP1 ELANE TCIRG1 SRP54 GFI1 HP_ABNORMAL_CSF_METABOLITE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_METABOLITE_LEVEL DARS2 NDUFS1 TACO1 SCO1 NDUFAF6 LIPT1 NDUFAF5 TICAM1 COX6B1 NDUFB8 NARS2 SLC13A3 SURF1 NGLY1 MT-ND2 COX14 SLC2A1 AIFM1 NDUFA12 NDUFS8 MT-TF PNPO TREX1 NDUFV2 ECHS1 SLC25A19 NDUFA13 MT-ND3 SDHA TXN2 NDUFS7 PET100 NDUFA6 TH MPV17 COA3 PNPT1 NDUFS2 NDUFV1 MT-ND1 MT-ND4 COX15 NDUFS3 ADAR MRPS34 IFIH1 NDUFAF2 NDUFS4 MT-CO1 SAMHD1 SLC39A8 COX10 MT-TW MT-TQ MT-ND5 NDUFA1 PDHA1 NDUFA11 SCO2 RARS2 NDUFB11 RPIA HTRA2 UNC93B1 MT-ND6 TBK1 MDH2 TRAPPC12 MECP2 NDUFAF1 COA8 GFM1 TIMMDC1 NDUFAF8 NDUFB10 COQ8A NAXE MT-CO3 NDUFA10 MT-TL1 MT-ATP6 COX8A RNASEH2C MT-TK GFM2 MTFMT BCS1L NDUFB3 NDUFA2 NDUFS6 NDUFB9 MT-CO2 FOXRED1 LRPPRC NDUFAF3 COX20 RNASEH2A GCH1 MT-TS2 NDUFA4 MT-TV NDUFAF4 TLR3 TRAF3 RNASEH2B C12orf65 MT-TN NDUFA9 TRMT10C RMND1 MT-TH DDC TMEM126B SLC19A3 NUBPL HP_ABNORMAL_CSF_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_PROTEIN_LEVEL RANBP2 MT-ND6 TBK1 GALC PRF1 SLC12A6 TICAM1 MPZ PSAP TTR PRNP OCLN HLA-DQB1 NGLY1 POLG MT-CO3 MT-TF CD59 PMP22 GFAP PEX7 TXN2 ARSA EGR2 TYMP MT-CO2 PHYH PRX SUMF1 MT-TS2 HLA-DRB1 TLR3 ABHD5 MT-ND1 MT-ND4 TRAF3 RRM2B BTNL2 MT-CO1 MT-TW MT-TQ MT-ND5 MT-TL1 MT-TH UNC93B1 HP_ABNORMAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_MORPHOLOGY GYG1 RYR1 ACTN2 RRM2B ATXN2 DSP C11orf95 ZP2 RELA CACNA1S POLG TYMP HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL RFXAP RFXANK CIITA TF RFX5 HP_ATRIAL_STANDSTILL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_STANDSTILL TRDN NPPA RYR2 CASQ2 SCN5A GJA5 HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY PLEC EFEMP2 CDH11 NKX2-1 FREM2 LMOD1 LIMK1 RFC2 MKS1 ELN SMAD3 GRIP1 FKBP14 MLXIPL GTF2I KRAS TBL2 COL3A1 PIGN COL1A2 RAC2 LMNB1 FBLN5 TP63 CLIP2 MYH11 POR MYLK ACTG2 MYRF WNT4 PLOD1 SALL4 UPB1 BAZ1B MKKS ITGB4 ITGA6 AQP2 MBTPS2 ATP7A PAH LTBP4 AVPR2 STK11 GTF2IRD1 ISL1 HP_OVERWEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERWEIGHT APPL1 C8orf37 PDX1 NEUROD1 AP4E1 PAX4 AP4B1 IGSF1 KCNJ11 KLF11 ACADVL FOXP1 AP4M1 BLK HNF1A GCK ABCC8 THOC2 CEL HNF4A USP7 TRIP4 INS AP4S1 HP_MORNING_GLORY_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_GLORY_ANOMALY PAX2 TMEM237 PAX6 DNM1L OPA1 HP_HYPOPLASTIC_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HIPPOCAMPUS CARS2 OSTM1 NDE1 CAMTA1 SLC35A2 HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION RAG1 MAGT1 ATM IL7R RFXAP MYC FOXN1 LCK LEPR CD3D IL2RG LEP RASGRP1 CD247 FAS FOXP3 WIPF1 FASLG CD3G CASP10 EPG5 CD3E RFXANK PGM3 RFX5 EXTL3 PRKCD DCLRE1C ZAP70 RAG2 PNP CIITA CD8A HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION SLC4A1 KCNN4 SPTA1 ERCC3 TARS1 MPLKIP RHAG HELLPAR SPTB ANK1 ERCC2 CFH PIEZO1 EPB42 CD46 GTF2E2 GTF2H5 RNF113A CFI HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION CFH CD46 RHAG HELLPAR CFI HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION SLC4A1 KCNN4 SPTA1 ERCC3 TARS1 MPLKIP SPTB ANK1 ERCC2 PIEZO1 EPB42 GTF2E2 GTF2H5 RNF113A HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE ABCC6 FBLN1 AGXT FBN2 HMCN1 PRPH2 KRIT1 CFHR1 PDCD10 MAPKAPK3 CCM2 HLA-A CFHR3 XYLT2 XYLT1 GNAQ FBLN5 CFI APOE HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY GYS1 KIF20A TNNI3 MYPN RARB MYL3 SCN5A STRA6 FLNC SCN1B TNNT2 HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY FLNC NOTCH1 KIF20A TNNI3 MYPN TNNT2 HP_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSCESS CYBB CYBC1 CYBA NCF1 BRCA2 NCF2 ENG PALB2 DLX3 TTC7A CTSC ENPP1 BRCA1 TP53 KRAS SMAD4 ACVRL1 IL10RB VANGL1 RAC2 PALLD CDKN2A PHEX ITGB2 DMP1 NCF4 HP_ABNORMAL_URETER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_MORPHOLOGY FANCE COL18A1 RIPK4 FANCM ERCC4 DMXL2 STXBP1 FANCL SOX17 ZMPSTE24 RFWD3 NDUFAF3 TBX18 GPC3 SMC3 SETBP1 HPSE2 PIGT SPINT2 AXIN1 BRIP1 CEP55 B9D2 LHX1 RNU4ATAC MYH11 AVPR2 WDPCP PORCN MYLK DYNC2LI1 B3GLCT ACTG2 PIGP KIF14 VANGL1 CC2D2A ITGB4 ITGA6 RAD51C BRCA2 GLI1 EVC FANCF HNF1B NPHP3 NAA10 GNAO1 SCN2A TMEM216 PLD1 FIBP BRCA1 CHRM3 SLC25A22 CSPP1 PLEC CASK EPG5 LONP1 TCTN2 PIGQ RPGRIP1 LMOD1 FANCG PNKP PIEZO2 FUZ BCOR EDNRA MAD2L2 SLX4 GLI3 FANCC GPC4 GATA6 SIK1 FAM20C SLC6A17 FOXF1 PSMD12 FANCI KCNA1 CEP290 PIGN CPT2 FANCD2 CDKL5 MBTPS2 AQP2 FANCA PBX1 WFS1 B9D1 FLNA RAB23 MKS1 EVC2 MKKS LMNA XRCC2 TMEM67 TMEM231 NEUROD2 RPGRIP1L TRIM8 TP63 TMEM107 UBE2T KCTD1 ARX ACTG1 SCN1B PALB2 ACTB FANCB PEX6 RAD51 HP_ABNORMAL_URETER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_PHYSIOLOGY PAX2 EFEMP2 KMT2D NRIP1 COL18A1 SHANK3 JAG1 NKX2-1 DACT1 DHCR7 LIMK1 RFC2 PSMD12 MNX1 SDHAF1 HAAO SOX17 AFF4 SDHA GTF2I CCNQ TBX18 FGFR2 MAP3K7 WDR62 MCPH1 ARNT2 SETBP1 SIX5 ELN STIL EYA1 CTLA4 CDK5RAP2 PYCR2 CLIP2 METTL5 COMT HPSE2 NIPBL PIGL SALL1 ACTG2 CHD4 SALL4 SH2B1 JMJD1C PAX6 SIX1 VANGL1 NCAPD3 FBLN5 GREB1L FLNA CEP135 BICC1 KANSL1 HIRA BPTF NCAPG2 MBTPS2 PUF60 KNL1 RREB1 CENPJ HOXA13 SEMA3E PTPN22 LRIG2 RARB GRHPR CHD7 TRRAP NFIA SDHB TBX1 EBF3 ATP7A CHRM3 SMC3 PRTN3 CDK6 RERE SETD5 DSTYK KIF14 CEP152 EHMT1 CDH11 HSPA9 PPP3CA FUZ SASS6 ALMS1 YY1 ASXL1 HNRNPU TAF13 MLXIPL RAD21 KCNQ1OT1 RECQL4 TBL2 MFSD2A STRA6 PIGN POLR3A APC2 ARVCF PIGA NSD1 ATRX TP63 ROBO2 PBX1 CDKN1C KMT2A FANCI EXT1 UBE2A TRPS1 COPB2 PIGT GATA3 BRF1 TNXB ASPM CEP63 BAZ1B CDC45 SEC24C CCBE1 ANKLE2 KCNQ1 PHC1 IGF2 STAMBP PIGO HLA-DPB1 HLA-DPA1 BNC2 RPL11 HNF1B KDM6A PRMT7 GP1BB SETD2 SMC1A GTF2IRD1 ISL1 HDAC8 UFD1 SLC26A1 CIT SDHD MAP11 HP_SINGLE_FIBER_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_FIBER_EMG_ABNORMALITY DPAGT1 GMPPB ALG14 GFPT1 ALG2 HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY PROKR2 PLIN1 FMR1 SDCCAG8 EIF2B4 IL17F F7 CCDC141 FGFR1 ESR1 GNAS FSHR STAT5B FSHB SERPINE1 KISS1 CASP10 AARS2 PWAR1 FLI1 UCHL1 SPRY4 TACR3 FGF8 ATM FGF17 HSD3B2 F10 ITGB3 NR5A1 CCR6 FIGLA BPTF ERCC8 ERAL1 MSH5 ANOS1 GDF9 TWNK LIPE HLA-B F5 BCOR AKT1 HESX1 IRF2BP2 BMPR1B ITGA8 COQ2 BMP15 BSCL2 HPS4 POLG LMAN1 FANCM GP1BA F2 WT1 WRN GNRHR FASLG WDR11 NBEAL2 LMNA RAD21 AGGF1 VPS13C NUMA1 INVS GHR MYH9 NDN SMCHD1 SOX3 PTPN11 FLRT3 F11 KISS1R FOS PLAU CYB5A WNT7A ARMC5 DCAF17 PPARG SUFU HFM1 CDON AGPAT2 F13A1 SRY MAGEL2 NPM1 NPHP1 SMC1A PMM2 HS6ST1 ROBO1 NUP107 NF2 SNORD115-1 CAV1 PSMD12 IRF5 SMO WIPF1 MEN1 DCC GPR161 SOX10 FGB BAP1 SNRPN NABP1 PDE4D VWF AR VAMP7 WAS TAC3 POLR3H MCM3AP SYCE1 TTI2 USP8 LEP TRMT10A ERCC6 TBL1XR1 AIP H6PD FOXL2 LHB DUSP6 PCSK1 CISD2 LEPR BMP2 HJV CHD7 GNRH1 IQCB1 LHX4 EIF2B1 PRLR IL17RA BNC1 LARS2 PWRN1 CLPP KMT2A SEMA3E CYP17A1 TRAF3IP1 PSMC3IP BMP4 FAS NSMF PRKAR1A MRPS22 GP6 RCBTB1 RTN2 HDAC8 THOC6 POU1F1 FGA WNT4 EIF2B3 IL17RC SLC25A13 NPHP3 STAG3 MAP3K1 ALMS1 NIN ZFPM2 WWOX SETD2 SYNJ1 AXL NIPBL PROP1 PML SLC29A3 GFI1B MSTO1 SNCA HFE PIK3CA DHX37 HPS5 HSD17B4 MCM8 POLR3B CTDP1 PROK2 FEZF1 IL17RD PODXL PEX6 NPAP1 GPR101 GP9 ITGA2B SMC3 CEP290 HLA-DRB1 F8 CYP19A1 NOBOX LRRK2 ZBTB16 DIAPH2 RNF216 IKZF1 SLFN14 RARA LIG4 CDH23 DHH TFR2 PARK7 HTRA2 PDGFB EIF2B5 FIP1L1 EIF2B2 TRAF7 GATA4 HERC2 TRAF3IP2 FGG CAVIN1 GALT NPHP4 PINK1 NR3C1 TERT B4GALNT1 MCFD2 PRKACG ATP7B POF1B RASGRP1 AIRE SRA1 TP63 INHBA SPIDR HARS2 STAT3 AKT2 RIN2 CEP164 SMARCB1 GLI2 SOX9 MKRN3 FOXA2 PRKN SETD5 POR SNORD116-1 CIDEC SEMA3A GP1BB NR0B1 DMRT3 STUB1 OTX2 NBN ESR2 SMARCE1 BLOC1S3 TKT WDR19 CYP11B1 SOHLH1 CLEC7A PRKCD CCN2 ANTXR1 MCM9 F13B PAPSS2 DNAJC6 PEX1 HP_FEMALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_SEXUAL_DYSFUNCTION COQ2 PINK1 LRRK2 IRF5 POR PROKR2 NSMF CHD7 IL17F IL17RC FGFR1 CAV1 FSHB GNRHR DCC FGF17 WDR11 SOX10 KISS1 TAC3 ANOS1 IKZF1 IL17RA TACR3 VPS13C SYNJ1 UCHL1 HESX1 SPRY4 FGF8 CDH23 AIP SEMA3A PARK7 FLRT3 SNCA HTRA2 KISS1R GNRH1 CCR6 CCDC141 HS6ST1 PROK2 IL17RD CYP11B1 PODXL CLEC7A DUSP6 HLA-B RTN2 TRAF3IP2 CCN2 MEN1 FEZF1 PRKN DNAJC6 HLA-DRB1 HP_DYSPAREUNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPAREUNIA FGF8 CDH23 AIP WDR11 SEMA3A FLRT3 IRF5 PROKR2 NSMF KISS1R IL17F IL17RC CCR6 CCDC141 CHD7 FGFR1 CAV1 HS6ST1 DCC FGF17 ANOS1 SOX10 IL17RD SPRY4 CLEC7A IKZF1 DUSP6 IL17RA HLA-B TACR3 TRAF3IP2 CCN2 MEN1 FEZF1 HESX1 PROK2 HLA-DRB1 HP_ENCHONDROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCHONDROMA IFIH1 TREX1 RNASEH2A IDH1 SAMHD1 RNASEH2C TCOF1 PTPN11 POLR1C POLR1D COL2A1 IDH2 ADAR PTH1R RNASEH2B HP_HIP_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_SUBLUXATION NFIX IFIH1 TRAPPC12 B3GALT6 AFF4 EIF2AK3 EIF4A3 DHCR7 SLC35A2 DDR2 HP_FLEXION_CONTRACTURE_OF_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_DIGIT CCN6 SNX14 SMS RIPPLY2 LIFR PRDM5 KLHL7 PHGDH RTTN COL6A2 MYBPC1 FGFR1 KCNAB2 KAT6B FBN2 CDH3 LMBR1 MAP3K7 GPC3 TNNI2 KISS1 HES7 FGFR3 NUP188 UPF3B ARID1B NXN SMG9 MYH3 WIPI2 CLCF1 MED13L AMER1 HOXD13 MED25 SPRY4 SLC29A3 PRDM16 TUBB3 CHRNG ERCC1 TACR3 FZD2 FGF17 NOD2 ORC6 WDR4 HSPG2 MED12 PIEZO2 COL11A2 CANT1 GDF5 BGN LGI4 GJA1 NUP133 SCARF2 PROK2 ECE1 MEGF10 SELENON ROR2 PEX6 COL17A1 TBX3 MESP2 FAT4 SLC26A2 NLRP3 NT5C2 NALCN GLI3 SETBP1 SLC35A2 MMP2 FGD1 SRCAP NKAP BCOR ZNF469 RERE TCTN3 ZC4H2 ASXL1 COG1 ANTXR2 NUP107 TBX15 GPC4 CDKL5 L1CAM GNRHR TMEM70 WDR11 DHODH EED MECP2 PAX3 MEGF8 SKI CAPN3 ANOS1 POR GABBR2 EMG1 ORC1 MBTPS2 COL6A1 TPRKB PSMB8 SLC39A13 TPM2 H1-4 MORC2 PRG4 ERCC5 TBR1 IKBKG MAPK1 IGHMBP2 LAMB3 FLNA RAB23 LAMC2 CHN1 SLC18A3 NAA10 FIBP TNNT3 ITCH CCBE1 UBA1 NTNG1 HACD1 MYO9A SIN3A SHH SALL4 NOG ITGA7 SUZ12 SMOC1 TGFBR1 TP63 ZDHHC9 BHLHA9 ADAMTSL2 MAF LMNA HS6ST1 RIC1 COL6A3 NUP88 RAPSN GPKOW RPL10 PORCN SLC16A2 CRLF1 ANO5 LAMA3 COL3A1 ACTA1 ADAT3 TWIST2 ERCC6 PPP2R5D FGFR2 OCRL TAC3 LFNG ALX3 PROKR2 DVL1 STXBP1 MUSK KIF15 ATAD1 PHF6 ERGIC1 CHST3 COL12A1 CRKL ERCC2 GORAB COG5 PIGL DSE ECEL1 ACTG2 GMNN DOK7 CDK13 C19orf12 EZH2 CDC42 MAFB DCHS1 PEX5 OSGEP ERLIN2 CNTN1 AUTS2 ADAMTS3 BCR PQBP1 TGFBR2 DVL3 NEK9 ORC4 BRPF1 WDR73 DUSP6 DLL3 FKTN NSD1 XYLT1 DPH1 DYM TRPV4 DPM1 COL11A1 MYL2 SMARCAD1 TP53RK MYOD1 TRPS1 CTDP1 PEX2 CHD7 SMAD3 KCNK9 ZMPSTE24 WNT5A PITX1 SPART SH3PXD2B HINT1 KDM5C ATP6V1A TGDS CTCF POLR3A CDC45 KIAA1109 EFNB1 CDC6 SLC35A3 GABRD FERMT1 FHL1 HUWE1 PIGN ABL1 ITGB4 FBN1 GNRH1 CCDC22 CDT1 TPM3 MAGEL2 BMP4 ALX1 FGF8 SMAD4 NSMF IDUA FLVCR1 STAC3 CUL4B ALG8 MAP3K20 LAGE3 SATB2 KISS1R THOC6 PEX1 HP_ABNORMALITY_OF_LATERAL_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LATERAL_VENTRICLE CSPP1 D2HGDH RAC1 COX7B NFIX TUBA8 TNFRSF11A NDUFB11 KAT6B PUS3 HS6ST2 ZIC1 PPP2R5D NCAPG2 MAP2K2 ERMARD HCCS DHX37 ATP6AP2 KIDINS220 CCDC174 ANKRD11 MPDZ KDM1A PIGG NEK1 GRN SON PSAT1 KIAA0586 ARSI COG5 PEX10 ALG13 TUBB2B MED25 GCDH FANCI TUBB3 EZH2 SLC35A2 HP_COLPOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLPOCEPHALY NDUFB11 CSPP1 COX7B ERMARD HCCS DHX37 ANKRD11 MPDZ KDM1A TUBA8 KIAA0586 KAT6B ARSI PEX10 NCAPG2 FANCI HP_TIP_TOE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIP_TOE_GAIT DDHD2 KCNA1 ERLIN1 DEAF1 ADSS1 SPG11 KIF1C DYSF MT-TE HARS1 SGCG HP_STIFF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STIFF_SKIN ZMPSTE24 PSMB8 FBN1 SLC29A3 LMNA SMAD4 HP_UNCOMBABLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCOMBABLE_HAIR TTC37 PADI3 SKIV2L TCHH TGM3 HP_AUTOIMMUNE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY MMP2 TCIRG1 IL2RA SPIB STAT4 FCGR2B ELANE LACC1 SRP54 CTLA4 ANKRD55 STAT1 FOXP3 CSF2RB IL12RB1 IL2RB FASLG CASP10 ADA2 DNASE1 FAS NLRP1 IFNGR1 RASGRP1 CD247 PTPN2 MMEL1 PTPN22 IRF5 POU2AF1 SLC7A7 CSF2RA ADA TNFAIP3 SPP1 TNPO3 TREX1 TNFSF15 PGM3 PRKCD FADD FCGR2A ITCH IRAK1 IL12A GFI1 HP_PRIMITIVE_NEUROECTODERMAL_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR BDNF KRAS EDN3 RERE YY1 TUBB KEAP1 KCNAB2 RAF1 GPC4 PHOX2B KIF1B PMS2 TGFBR2 MLH1 BMPR1A FLI1 MAPRE2 EPCAM BRD4 GPC3 GDNF BRAF SDHB PTPN11 MSH6 NF1 GABRD NUTM1 RPS20 PRDM16 PALB2 SKI SEMA4A ASCL1 RET DICER1 MLH3 MSH2 RUNX1 MYO1H PMS1 PIK3CA FAN1 HP_BURKITT_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BURKITT_LYMPHOMA RASGRP1 CASP10 FAS RHOH PRKCD MYC FASLG HP_ABNORMAL_DRINKING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DRINKING_BEHAVIOR ITPR3 NKX2-1 PTPN22 SLC12A3 ARNT2 SOX3 KCNJ1 TMEM67 CLDN16 NPHP1 INSR NPHP4 AVP OTX2 SLC5A2 CTNS IL6 CLCNKB CDC73 FGFR1 HNF1A AQP2 AVPR2 HPSE2 HESX1 HNF4A CASR NPHP3 KCNJ5 PROKR2 CISD2 CYP11B2 KCNJ10 SOX2 CYP11B1 CACNA1D HNF1B WFS1 HSD11B2 NLRP3 LRIG2 CLDN10 HP_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY SNX14 TWIST1 PIGY LIMK1 PIGH CLCN4 KIF7 KCNAB2 WDR35 PAFAH1B1 FANCL KIFBP PTEN HEPHL1 LMBR1 TCF4 AMMECR1 KCNJ11 GPC3 LIG4 RRAS2 ELN ARID1B MED12 NXN PWAR1 BRIP1 DDX11 ATR ATRX MED13L HOXD13 MED25 SMC1A RAB39B FGFR3 IFT122 GJA1 COLEC10 CACNA1G ARHGEF6 KMT2A MTRR ORC6 TRPV4 GDF5 NFIX DHPS CHRNA7 RHOA DSP NCAPG2 EMG1 TELO2 ROR2 HMGA2 KCNK4 DCHS1 ARX TRIP12 IGF2 GATA4 IL1RAPL1 SHANK3 RAI1 TFAP2A CEP57 USP7 FGD1 XRCC4 SRCAP WDR4 BCOR CKAP2L ESCO2 MRAS SLX4 FLI1 NEK1 GPC4 L1CAM DVL1 SNRPB AFF2 RAD21 MCTP2 CEP152 BUB3 SOX11 RPS6KA3 MID2 FANCA RERE KDM6B KDM1A NDN MAPK1 GCK MASP1 FBXO11 IQSEC2 SKI RAB23 XRCC2 UBR1 TNNT3 ITCH ABCC8 B3GLCT DLX3 NKX2-5 OFD1 CPLANE1 EXT2 TSPAN7 NTNG1 ZFPM2 SSR4 WNT7A NOG STAMBP FGFR2 LEMD3 UBE2T SUZ12 GATA6 WNT5A MAGEL2 GTF2IRD1 COG8 KPTN SOS2 STAG1 FANCB SNORD115-1 PIGV DLEC1 RBM10 RPL10 RNF216 FANCM RFC2 ERCC4 TBX1 CCNQ FOXP1 DPF2 EP300 ALX3 DEAF1 SIN3A SNRPN CUL7 CLIP2 GMNN TCF20 BMP2 ACVR1 PCGF2 BCR BRCA2 AKT1 CEP55 DVL3 TGFBR2 NSUN2 NAA10 CREBBP TRRAP RAB11B LMNA CITED2 PIK3R1 ZNF41 BRCA1 BUB1B SOS1 EZH2 DYM PTPN11 DLX5 SLC35A1 GATA5 RAB18 ZNF711 TRIO MKS1 TRPS1 MAD2L2 PLK4 PPP2R1A YY1AP1 NUP107 SPART SH3PXD2B SYP RNF6 VPS13B RNU4ATAC CSNK2A1 RAF1 GDI1 SLC9A7 CDC45 CHSY1 KIAA1109 EFNB1 CDC6 POLA1 PWRN1 BUB1 HUWE1 PIEZO2 SATB2 BRAT1 PIGS IHH ABL1 RIT1 JAG1 TRAIP TFAP2B INTU SOX5 RUNX2 HDAC4 XYLT1 CCDC22 BMPR1B IGF1R BMP4 EVC ALX1 FAT4 NPR2 EVC2 RB1 SLC26A2 HDAC8 PALB2 PGAP2 PDE6D CCDC8 FANCE SOX4 GDF1 PHGDH YWHAE G6PC3 KAT6B STAG2 NSMF TCTN3 RBM8A RFWD3 SPRTN FTSJ1 A2ML1 MAPK8IP3 NUP188 UPF3B NIN DPAGT1 WIPI2 TBX5 AMER1 NIPBL SALL1 HCFC1 PRDM16 FZD2 PUF60 TBCK BHLHA9 CANT1 CXorf56 HOXA13 SEMA3E UBE3B FANCF HOXA11 PAH NPAP1 CHD7 TRIP13 WWOX RSPRY1 SMC3 CDH1 MACROH2A1 TRMT10A SHOX TP63 BLM FANCG IGF1 DONSON TBX15 MLXIPL CDKL5 RBBP8 CLCF1 FLT4 MECP2 POMP NUP37 FANCI KCNJ2 TRAF7 PIGN GABBR2 FANCD2 FGFR1 CNKSR2 ORC1 LMX1B NRAS POLE SPECC1L SLC2A10 OBSL1 IL11RA PCNT BAZ1B UBE3A CBL SHH SLC29A3 SMOC1 HERC2 TBX4 FGF10 REV3L NONO MECOM TRAPPC9 PNPLA6 PUM1 NKX2-6 CENPE MAF RAD51 PTCHD1 ACSL4 DACT1 MBD5 FAM149B1 PLXND1 EIF4A3 GTF2I WDR19 ALG3 IFT52 MAP2K1 USP27X PPP1R15B RASA2 STXBP1 KIF15 ATRIP BRAF IRX5 CRKL COG5 PIGL INS CDK13 SF3B4 PIGO CDC42 KIAA0753 KLF13 IFT43 ALG13 CENPJ AGTR2 RAD51C PQBP1 PACS2 KRAS PAK3 EBP ANKRD11 ORC4 MKRN3 PITX1 TBC1D24 CD96 PAX3 POC1A SIM1 FLII SETD5 PDX1 FRMPD4 LZTR1 MAP3K7 PACS1 C12orf57 POR SNORD116-1 PAX1 FLNA DLG3 COL11A1 FANCC KDM5C TBL2 TGDS CTCF TMEM216 HIC1 ERMARD FLNB PIGW DMD PHIP GJA5 GABRD PTH1R CDK10 CDT1 BPTF RRAS SMAD4 MAN1B1 CUL4B USP9X ZC4H2 PGAP3 ARID2 ZNF81 HP_INCREASED_SERUM_TESTOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL POLR3A FSHR INSR POR WNT4 HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION CRPPA CRYAB CAV3 POMT2 GFER FKRP GMPPB FKTN POMT1 EMD FHL1 COL6A3 LMNA TMEM43 POMGNT1 DAG1 COL6A1 COL6A2 POMK LAMA2 DYSF SYNE2 MYOT SYNE1 LARGE1 HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN CRPPA POMT2 FKRP GMPPB FKTN POMT1 POMGNT1 DAG1 POMK LARGE1 HP_ABNORMALITY_OF_THE_ENDOMETRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ENDOMETRIUM CDH1 POLD1 AKT1 INHBA PIK3CA MLH3 MLH1 SDHC KLLN BMPR1A POLE GREM1 DMPK PMS2 MSH2 SDHB MSH6 SLC6A17 THOC6 SEC23B MSH3 NTHL1 USF3 PTEN SDHD HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION ITGB3 F2 F8 ITGA2B MCFD2 F5 F13B F13A1 LMAN1 HP_ORAL_CAVITY_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CAVITY_BLEEDING KIF23 F2 F8 TBL1XR1 F13A1 NPM1 ZBTB16 NUMA1 STAT3 NABP1 BCOR F10 RARA F5 F13B FIP1L1 STAT5B PRKAR1A PML IRF2BP2 HP_ABNORMAL_BOWEL_SOUNDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BOWEL_SOUNDS CCN2 CCR6 DAXX CAV1 SDHD SLC5A1 ATRX IRF5 HLA-DRB1 HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY BTNL2 NPHP3 HLA-DRB1 PMM2 BMPER HP_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLANGITIS BCS1L RFXANK RFXAP DCDC2 RFX5 ABCB4 ITCH CLDN1 CIITA IL36RN IL21R WDR35 CD40LG HP_FLANK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLANK_PAIN CALR MPL APRT JAK2 TET2 TBX18 HP_ABNORMAL_VASCULAR_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_PHYSIOLOGY LIFR NKX2-1 G6PC3 FGFR1 JAK2 ARHGAP31 AFF4 PTEN SERPINC1 FGFR3 KCNK3 ABCC6 ALB MEFV MT-TF IL12A-AS1 MLX SFTPC COL1A1 GATA6 THPO MED25 GNAQ ADA2 COX7B PLOD1 BANF1 HSPG2 SCARB2 PROS1 CCR1 TERT NFIX ACVRL1 MT-ND1 MT-ND4 CCR6 PROC FKBP14 TNNT2 KLRC4 ATP5F1A SAMHD1 COLQ MT-TQ XYLT2 FIG4 GBA FBN1 HLA-DRB1 SLC37A4 MGP COQ2 BSCL2 DOCK6 BMPR2 IRF5 MT-CO3 TREX1 HLA-B KIAA0319L C4A SFTPB AGGF1 UBAC2 NOD2 DLL4 TCIRG1 COG1 F13A1 IKBKG LAMA2 UBE2A HABP2 TNFSF11 FOXF1 RBPJ MT-TS2 KRT8 SNX10 FOS MPL F5 CLCN7 SPP1 RNASEH2B PPCS NOTCH1 AGPAT2 TBX4 TNNI3 PLOD3 TLR4 ACTA2 PPARG CAVIN1 SLC12A3 MT-TH PIGA FAS VPS33A SFTPA2 IL12A KCNJ5 CAV1 HBB STAT1 LIPT1 GDF2 TET2 PAM16 FOXP1 CLCNKB LMNA IL10 CHST3 IL12B XYLT1 STAT4 KCNN4 IL23R LBR CBS ERAP1 SMAD4 MUC5B COL4A1 F2 ADAR AKT1 IFIH1 NT5E RNF125 CACNA1D MT-CO1 MYPN MT-TW MT-ND5 SMAD9 IRAK1 ABCD4 EIF2AK4 MT-ND6 ALMS1 KRAS STING1 MED12 FSHR SLC25A24 GUCY1A1 CCN2 EOGT CTCF PLP1 RNASEH2C KRT18 VAC14 PIEZO1 PIGN MT-CO2 AGXT GJA1 RNASEH2A KIF20A COL1A2 SPECC1L PDSS1 SARS2 MTHFR ENG CD55 SLC4A1 FLNA ZMPSTE24 LAMB2 FLNC MT-TL1 NFU1 IDUA LIPA HP_NIGHT_SWEATS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NIGHT_SWEATS STAT6 NAB2 BCL6 IFNGR1 TH SLC25A13 SDHD HLA-DRB1 BCL2 HP_PERIPHERAL_HYPERMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPERMYELINATION NEFL SOX10 PMP22 MPZ MTMR2 HP_ABNORMALITY_OF_PERIPHERAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIPHERAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY REEP1 PDK3 MED25 PMP22 TFG DYNC1H1 PSAP SH3TC2 MATR3 C12orf65 AARS1 MPZ ATXN10 ERCC6 NEFL TRPV4 IDUA ARHGEF10 SAMD12 FGD4 GDAP1 BSCL2 POLG VCP DEGS1 LTBP3 ERCC3 FBN1 PLEKHG5 SUMF1 LRSAM1 EGR2 DIAPH3 GALC TPI1 PRX TBC1D24 TYMP YEATS2 MPV17 PNPT1 GJC2 SNAP29 WNK1 ARSA NHLRC1 KIF1A DNM2 RRM2B AIFM1 DCAF8 CTDP1 ERCC8 RETREG1 PLA2G6 SBF1 EPM2A CEP126 NDRG1 RAB7A SLC25A15 DHH MFN2 HK1 SAMD9L SUCLA2 FIG4 GARS1 OPA1 SLC12A6 MARCHF6 CPLANE1 PRPS1 NFASC SACS LITAF KIF1B EDNRB PNKP CYP27A1 FXN MYH3 MYH14 NALCN STARD7 CCT5 SBF2 NEU1 SOX10 SETX MORC2 SPG21 SIGMAR1 ATXN1 IGHMBP2 SCN9A OTOF RAI1 LYST HSPB8 TIMM8A NGLY1 GJB1 ABHD12 MTMR2 FBLN5 FLVCR1 EBP FAM126A JPH1 HSD17B4 LMNA FBXO38 PEX6 HSPB1 HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY GNB1 SMS EFHC1 PIGY CCDC47 CTBP1 SLC12A6 PHF6 CHD2 SYNJ1 LMAN2L KCNAB2 ARHGAP31 SLC13A5 DAOA SAMD12 SCN8A CDKL5 NLGN4X KCNJ11 NOTCH3 STXBP1 NUS1 SPTAN1 CNKSR2 GABRG2 SLC6A19 SCN1A DPM2 SACS SLC1A2 NLGN3 MED13L MAPT SETBP1 PSEN1 SLC2A1 ADGRV1 GRIN2B FGFRL1 ERMARD PAX6 WDR4 JRK PEX1 ALG2 CHMP2B WWOX DHDDS DHPS MT-ND4 PRRT2 TRAK1 XPC PPP3CA CNPY3 NDUFAF8 NUP133 APOL2 GABRD ERCC8 ALDH7A1 IREB2 SLC5A7 GUF1 PEX6 EEF1A2 KIF1A HRAS PRNP MT-TQ KCNB1 ARX MCOLN1 SNIP1 DENND5A GABRA2 SLC25A22 ZC3H14 CLIP1 RAI1 SLC35A2 KCNH1 PIGQ MARCHF6 PDSS2 TLR3 MYD88 COL13A1 DOCK6 PEX12 PEX10 NF1 NUP107 LIPT2 CUX2 CACNA1B POMGNT1 TRAPPC12 MT-CO3 KMT2D NRAS STRADA TIMM50 BRAF GRN YWHAG NTNG2 AP3D1 FBXO31 GFM2 FLCN DLL4 MED25 GCK ATXN1 MBOAT7 KRAS TRAPPC9 IQSEC2 SKI SZT2 RBPJ ROGDI CILK1 GALC KCTD7 ABCC8 TBC1D24 MED23 OPA1 NTNG1 MFSD8 MTMR2 TRAPPC11 OCRL EBP NEXMIF SCN1B LETM1 MT-TH PIGV FGF12 SLC2A3 CACNA1A MYO9A PEX14 SH2B1 MECP2 PEX19 DMXL2 NTRK2 AGRN ERCC6 KCNQ2 SNAP25 ZNHIT3 GABRB2 FOXP1 EP300 CLTC TGFB1 NSD2 ALG13 B3GALNT2 ACOX1 DEAF1 COMT CACNB4 HTR2A NECAP1 GABRA1 PIGP ST3GAL5 AARS1 FRRS1L GJC2 UBA5 PRSS12 PEX5 OSGEP KDM5B NOTCH1 GNAO1 PCK1 AP3B2 CARS2 SYT1 NECTIN1 EPM2A CSTB MT-CO1 PGAP1 CPLX1 CREBBP MAN1B1 NDRG1 MT-ND5 PRODH SLC25A1 RSRC1 PARS2 ST3GAL3 IQSEC1 FKTN UNC93B1 DPM1 MT-ND6 EPG5 PCDH19 KCNA2 KCNMA1 HMGCL DDB2 SYNGAP1 MFF EDNRB LARS2 SCN2A BCS1L SCN9A RMRP KCNA1 ARG1 MYH3 PEX13 SLC18A3 WDR45 NSD1 HECW2 TUSC3 SOX10 ERCC2 SRPX2 AIMP1 PIGT MT-CO2 RPL10 TREM2 CLCN4 AHDC1 EDC3 TIMM8A CRBN NEUROD2 DOLK TMEM106B ARFGEF2 HCN1 ERCC4 SYT2 PEX2 RTN4R ITGB6 ASAH1 MT-TL1 PGAP2 GABBR2 PEX16 ATP1A2 TRIT1 AARS2 C9orf72 DNM1 NALCN ASNS DRD3 SH3TC2 VAMP1 ADRA2B ATP6V1A SCN3A ABCA5 SLC1A4 CHI3L1 CRADD NGLY1 LSS CTNNA2 ACTL6B ALG11 NUP188 MT-TF ERCC5 LINS1 DIAPH3 EMC1 SPATA5 PRDM16 VAMP2 TBCK ASL PHGDH CACNA1H HTT CLCN2 MT-ND1 HNRNPU SLC45A1 MTHFR PEX11B HIBCH SIK1 PLCB1 COQ2 PEX26 SLC39A8 PIGG GRIN1 GABRB1 P4HTM EIF2S3 CLN8 CASK AIMP2 RERE DCPS NRXN1 GPAA1 UBE3A PPT1 AFG3L2 RUSC2 MED17 GRIN2A CYP27A1 FARS2 PIGC PIGW UGDH APC2 STARD7 AP2M1 PIGA NEU1 TPRKB MORC2 SARS1 POMT1 HCFC1 GLUD1 FKRP SYN2 MAP2K1 CC2D1A NOTCH2NLC MT-TS2 PAFAH1B1 CYFIP2 NDP DOCK7 TRAF3 AP1S2 TRIM8 PNPO C12orf4 GMPPB IER3IP1 UBTF CTNND2 EZR GRIN2D PSAT1 APOL4 VCP ERCC1 CPT1C SYNE1 MAF GLYCTK TYROBP TBK1 NSUN2 TNIK TET3 CCDC88A TICAM1 GRIK2 XPA ALG3 ERCC3 SCARB2 YWHAE SLC6A1 MAP2K2 FMN2 PRICKLE1 ARHGEF9 ALDH5A1 UNC80 ATAD1 POGZ CACNA1E ANTXR1 PTS RTTN INS YEATS2 KCNQ3 PIGO NHLRC1 LARGE1 ARV1 PIGL PHACTR1 LAMC3 FOXG1 ATXN10 SQSTM1 ANKRD11 MT-TW GABRB3 WDR73 CLTCL1 CNTNAP2 SIM1 FLII PDX1 TUBB2A TP53RK PNKP NDST1 NDUFA9 KCNT2 HNMT EOGT CHAT NLRP3 METTL23 WASHC4 STX1B AHSG HIC1 PEX3 SNRPN TUBGCP2 NACC1 OTOF STUB1 UPB1 PSAP GABRA5 CNTN2 IARS2 TECR PLPBP MAPK10 CUL4B POMT2 KPTN KDM6A PGAP3 SETD2 LAGE3 PLAA HP_TETRAPLEGIA_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA_TETRAPARESIS RANBP2 TARDBP STAR MRAP NEXMIF LRP4 GALC PRF1 CHCHD10 UCHL1 ALS2 CARS2 BSCL2 KRAS GBE1 ADAR FGFR1 GJA1 SELENOI HINT1 CACNA1S ALDH18A1 MT-ATP6 NAXE ARX SARDH AIFM1 TBK1 ATP1A3 NADK2 NHLRC2 MC2R LMNB1 TBCD SQSTM1 VCP KCNT1 FUS COL4A1 PNKP DPYD LIMS2 KCNJ18 PRPS1 NDUFS3 ARSA NEK1 TFG NNT TXNRD2 BCAP31 ARFGEF2 PNP TRAPPC2L SLC19A3 TNFRSF11A NUP62 UGP2 C9orf72 ATP1A2 AGTPBP1 GABRA3 HP_KINETIC_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KINETIC_TREMOR VLDLR MRE11 XPNPEP3 NKX2-1 RARS1 CAMTA1 TENM4 ATP2B3 TARS1 ATXN2 SPTBN2 MPLKIP PEX10 UCHL1 CTDP1 FMR1 PSAP NFASC UFC1 FBXO7 ATCAY GJC2 POLR3B ELOVL4 SCARB2 VWA3B POLR3A FXN PTEN PRICKLE1 GSS SACS SNCA QRICH1 AFG3L2 PPP1R15B CCDC88C GTF2H5 RNU12 TMEM106B RFC1 CACNA1A TMEM70 ERCC3 ANO10 ARSA SLC6A17 PPP2R2B SCYL1 NOP56 PIK3CA AKT1 SCP2 KCNJ10 TGM6 KIF1C MAOA ABHD12 GJB1 TBP CSTB ATXN10 FAM126A ITM2B FARS2 PLA2G6 ERCC2 NONO CWF19L1 EPRS1 ITPR1 GTF2E2 ABCB7 PNPLA6 RNF113A HP_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TITUBATION IFRD1 KCNC3 HIBCH LAMA1 MAG NKX6-2 FLVCR1 FAM126A UCHL1 GJC2 PLP1 KIF1C BRAT1 HP_TREMOR_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR_BY_ANATOMICAL_SITE CIZ1 CACNA1G PDK3 TENM4 MARCHF6 SLC12A6 UCHL1 ADRA2B NKX6-2 PMP22 UBE3A GBA2 GJC2 SMN1 SMN2 PEX6 SLC6A17 YEATS2 PPP2R2B MPZ PGAP1 ITPA SETX DRD3 MORC2 ABCB6 ANO3 PLP1 AFG3L2 FGF14 SAMD12 IFRD1 STUB1 DNMT1 MARS1 SLC52A2 RAB3GAP2 MTM1 NOP56 MFN2 ITPR1 TFG TSHR SCP2 CNTN2 KIF1C ZFR CARS2 GCK HIBCH LAMA1 PIK3R5 TUBB4A COL6A3 TAF1 CTNND2 C19orf12 ERLIN2 ZFYVE26 HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES PFN1 MYL2 OPTN NEB DAO ACTA1 CHMP2B ANG NGLY1 C9orf72 GLT8D1 VAPB CFAP410 UNC13A DCTN1 TBK1 DES PON2 KBTBD13 TPM3 PON1 TREM2 TPM2 ANXA11 PPARGC1A GMPPB NEFH HNRNPA1 SOD1 FIG4 ERBB4 UBQLN2 MYPN TAF15 PRPH DMPK KLHL41 HACD1 SQSTM1 EPHA4 ATXN2 VCP DKK1 TARDBP FUS ITGA7 SELENON GLE1 MAP3K20 COA8 CHCHD10 MATR3 PON3 NEK1 CCNF HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES PFN1 NEFH HNRNPA1 SOD1 OPTN FIG4 ERBB4 UBQLN2 DAO TAF15 PRPH CHMP2B ANG SQSTM1 C9orf72 GLT8D1 VAPB EPHA4 CFAP410 ATXN2 UNC13A VCP DKK1 DCTN1 TARDBP FUS TBK1 GLE1 PON2 PON1 TREM2 COA8 CHCHD10 MATR3 PON3 ANXA11 NEK1 CCNF PPARGC1A HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES CHRND SCN4A PFN1 RAPSN RRM2B KLHL41 ACTA1 OPTN DAO KCNE3 CHMP2B ANG C9orf72 MUSK GLT8D1 VAPB CFAP410 UNC13A RNASEH1 DCTN1 CHRNE TBK1 DES PON2 PON1 TREM2 CFL2 ANXA11 CHRNB1 PPARGC1A CACNA1S LMOD3 NEFH HNRNPA1 TPM2 DOK7 SOD1 COL13A1 FIG4 ERBB4 UBQLN2 TAF15 PRPH NEB SQSTM1 EPHA4 ATXN2 VCP TARDBP FUS AK9 GLE1 CHRNA1 CHCHD10 MATR3 LRP4 AGRN PON3 NEK1 CCNF HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES CHRND SCN4A PHKA2 RAPSN TPM2 KLHL41 DOK7 ACTA1 COL13A1 STIM1 MYPN PHKG2 KCNK9 CHRNE POMT2 FLNC GMPPB NEB TOE1 FKRP MUSK HINT1 LDB3 TPM3 ORAI1 AK9 POMT1 CASQ1 CHRNA1 ACADM CFL2 LRP4 AGRN CHRNB1 LARGE1 LMOD3 HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES TPM2 CFL2 KLHL41 NEB ACTA1 HINT1 LDB3 LMOD3 HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES ORAI1 TPM2 KLHL41 ACTA1 CASQ1 STIM1 MYPN KCNK9 FLNC CFL2 NEB 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 DPAGT1 GMPPB ALG14 COLQ LAMB2 GFPT1 ALG2 HP_COLLECTIONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLLECTIONISM C9orf72 TREM2 CHMP2B PSEN1 VCP SQSTM1 SLC6A4 MAPT HTR2A TMEM106B GRN HP_INAPPROPRIATE_CRYING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_CRYING GALC SLC19A3 PSAT1 PHGDH IQSEC2 SLC18A2 KIF15 PSAP HP_PERSEVERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSEVERATION TARDBP C9orf72 USP7 TREM2 NPC2 CHCHD10 MAPT CHMP2B PRNP NONO VCP GRN TMEM106B TBK1 SQSTM1 PSEN1 FUS HP_ABNORMALITY_OF_MUSCLE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MUSCLE_SIZE PLIN1 SGCD MTAP INSR NEB FRG1 POMGNT2 FKRP PMP22 ERLIN1 LMNA TIA1 CRPPA NEFL GPC3 PNPLA6 MAG CD59 OGDH PON1 SACS ERGIC1 TPI1 ATRX ADSL GPR35 WASHC5 TK2 EGR2 SALL4 KCNH1 DNA2 TRPV4 MT-ATP8 TPM2 LAMA2 GFPT1 AK9 VPS13A KIF1A TRIM32 TNNT1 COLQ TCF4 SDHB SLC7A7 TTPA NDUFAF6 HRAS NEK1 SETBP1 CHRND BSCL2 PIEZO2 HSPB1 NKX2-1 COL6A1 REEP1 MT-TW PHYH MYH7 HNRNPA1 NDUFA12 WRN C9orf72 UNC13A SELENON CHRNG DYSF ALDH18A1 DVL1 GYG1 SMARCB1 PAX8 BBS4 AGA CAPN3 PDE8B NALCN TSHB ANTXR2 LRP12 PSMB8 VRK1 SQSTM1 MME MST1 TRAPPC11 ARSB IGHMBP2 RAI1 PHGDH COA7 ERBB4 SGCG GMPPB TOE1 ABHD12 MTMR2 HYMAI LDB3 DGUOK ADSS1 WNT5A AGPAT2 FAM126A ATAD3A JPH1 GNE MYH14 GNAS GTF2IRD1 SLC26A4 COL6A3 SDHD ZFYVE26 HNRNPA2B1 MYH3 CCNF DPM3 TSHR TARDBP SCN4A PIP5K1C TTC19 AGRN SPG11 ACTA1 GPC4 TRAF3IP2 AIFM1 DNMT3B POMGNT1 POMT1 TREM2 SLC25A19 CHMP2B CHRNB1 PHF6 CLIP2 PYGM POMT2 FKTN PEX5 KLC2 SLC5A5 DOK7 SIL1 C19orf12 SMAD4 SOD1 MAFB CAV3 NOP56 NEU1 USP8 DMPK DUOX2 TBCK RBM28 FIG4 VCP RNF125 SRY CEP126 SEC23B SMCHD1 SLC25A1 ATP6V1B2 ACADM AKT1 RRM2B GARS1 FLNC NAGA KCNK9 ERLIN2 SPART HINT1 MPZ TGFB1 SLC18A3 CCT5 SMN1 SBF2 SOX10 PRKACA CDKN1C HUWE1 SIGMAR1 PTEN AR LEMD3 NIPA1 CAVIN1 ANO5 KCNQ1 TPM3 FBLN5 TTN GJB1 NBN ATP6V0A2 ERBB3 DNM1L RTN2 FBXO38 POLR3A ASAH1 DCTN1 PIK3CA SH3TC2 CHCHD10 COL6A2 DAO DHTKD1 DMD GDAP1 RPS6KA3 FUS MYOT BBS5 B4GALNT1 MSTO1 PUS1 COLEC11 MYF6 MFN2 SLC9A6 DCAF8 IFT140 COL12A1 GLE1 PHKA1 VMA21 RAB7A PNPT1 VAMP1 COASY MKS1 SLC12A6 TCAP UBE3A HELLS MAN2B1 MUSK AFG3L2 PEX6 FXN TRMU PIGW ANXA11 BIN1 RYR1 FLNA GBA2 BAZ1B NDUFS4 CAPN1 CTLA4 AP1S2 BICD2 ATXN3 WDPCP PFKM DUOXA2 REV3L CHRNA1 BBS12 CPT1C ENTPD1 PDK3 SLC16A2 IFT27 TPO HARS1 INPP5E SDCCAG8 PQBP1 TBK1 PIK3R2 ACADSB ZBTB20 ATM SLC33A1 RETREG1 LMOD3 BBS7 CDCA7 MPV17 TBCE SLC52A2 KLHL40 KY KIF1C ACTB IBA57 SETX MT-TL1 BBS1 DHH POP1 ITGA7 CD28 COL2A1 MYL2 MECP2 CHP1 MYOD1 CIDEC TG PHKG2 PDE11A PRPS1 POU1F1 MYBPC1 NDUFA9 OPA1 CHAT FLRT1 FHL1 LARGE1 C8orf37 NPHP1 ATL1 MSTN IL6ST ADK TBCD POLG SMARCA4 PHKA2 KCNA1 ATXN1 C12orf65 PLP1 IFT172 ZC4H2 TDP1 HSPG2 TRHR EXOSC8 MCCC2 NDE1 DNAJB2 ABCC9 UBA1 B4GALT7 BAG3 SNX14 SHOX PFN1 CCDC47 LIMK1 FBN2 NARS2 AFF4 PLEKHG5 FOXG1 KLHL9 MAP3K7 COG7 DNM2 PEX7 ELN LRSAM1 CLCN1 GBE1 MED13L PRPH SYNE2 PPARGC1A LIMS2 HSPB3 VAPB SLC5A7 HMGA2 LIPE FIBP COQ2 SNIP1 SYNE1 KDM5C VPS33A HK1 OPTN COL13A1 MYMK SFXN4 AGL CHRNE ROR2 PLAGL1 PRUNE1 PRKAR1A KIF5A APTX DYNC1H1 LAMP2 SDHC SLC25A4 UBQLN2 FOS GNPTAB CNTNAP1 PLEC IGF2 PPARG BMP1 FARS2 PNKP HNRNPDL PEX1 SPTBN4 NUP88 TBC1D23 ALS2 SGCB DARS2 MYO9A MED25 TFG SEPTIN9 RFC2 INPP5K SDHAF1 SNAP25 BBS10 SLC39A13 RNASEH1 FOXE1 TMEM43 BVES BBS9 ATXN2 BBS2 KCNMA1 POMK FUCA1 NEFH GRIA3 INF2 STIM1 SUCLG1 MTM1 LZTFL1 MGME1 ZBTB24 RXYLT1 IDS DES TYMP NDRG1 ARSI LRP4 CCDC115 WDR81 ZEB2 EHMT1 GAA PEX10 MTMR14 ATP8A2 ATP7A FKBP14 MKKS CFAP410 KCNQ1OT1 LTBP4 PIK3C2A CAV1 AIP PYCR2 B4GAT1 CPT1A SLC52A3 AMPD2 ARL6 ASCC1 PIGS TNXB NKX2-5 NGLY1 CTNS EPHA4 FTO SYT2 LAMB2 SLC25A21 PRKAG2 TNFRSF1B TTC8 TRIP4 ARID1A AARS1 SURF1 SPRTN SMN2 MT-TE PON2 SCN9A SGCA YARS2 VPS13D TBX5 ABCA1 COG8 MYPN KLHL41 WARS2 SPEG TBX3 GPR101 MATR3 PON3 AGTPBP1 CIZ1 MDH2 RAPSN SUCLA2 YY1 CA8 GLT8D1 DAG1 LMX1B CYP7B1 MORC2 GAN MAP3K20 PNPLA2 CHN1 EXOSC3 TAF15 HACD1 SLC46A1 SCO2 PLOD3 DVL3 CEP290 FAM111B CUL4B KLLN TUBB2B GATA1 PLXND1 SDHA FGD4 GTF2I EMD KCNN3 KBTBD13 PGAP1 PRX COL4A1 STAC3 WNK1 YARS1 SCYL1 VLDLR DUX4 HEXB THRA IYD CPLANE1 SPAST FBXL4 LITAF KIF1B ANG DNAJC19 TBL2 RBM8A USF3 IFRD1 STUB1 BBIP1 B3GALNT2 HSPB8 PYROXD1 PSAT1 IDUA FLVCR1 MRE11 GLB1 LMNB2 FDX2 HP_HAND_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_MUSCLE_WEAKNESS BSCL2 CHRND SCN4A RAPSN DOK7 GARS1 POLG PDK3 COL13A1 CHRNE MFN2 FLNC HARS1 MUSK BICD2 TIA1 HINT1 LDB3 AK9 COLQ LAMB2 NEB REEP1 GNE TK2 CHRNA1 DCTN1 MORC2 LRP4 AGRN SQSTM1 MYH7 PNPLA2 DYSF CHRNB1 HP_PORTAL_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_VEIN_THROMBOSIS SLC4A1 KCNN4 PIEZO1 NOTCH1 MET SERPINC1 MPL PIGM JAK2 CTNNB1 TET2 HP_SPLANCHNIC_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLANCHNIC_VEIN_THROMBOSIS PRSS2 SLC4A1 KCNN4 SPINK1 CTRC CASR NOTCH1 MET MPL CTNNB1 PRSS1 PIEZO1 SERPINC1 CPA1 PIGM JAK2 CD55 TET2 CFTR HP_LARGE_INTESTINAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_INTESTINAL_POLYPOSIS POLD1 AKT1 FLCN RNF43 PIK3CA BMPR1A SDHC MUTYH POLE KLLN APC AXIN2 KEAP1 GREM1 DICER1 MSH3 SMAD4 SDHB ENG SEC23B NTHL1 PTEN USF3 SDHD HP_MICROPHALLUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPHALLUS GATA4 CILK1 THOC2 TOE1 SAMD9 RTTN TRRAP SIN3A TACR3 OPHN1 HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL RPS19 ADA RPS29 RPL15 PKLR HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY CSPP1 KIAA0586 RSPRY1 CFAP410 SBDS TRPV4 RPL13 SRP54 DNAJC21 HP_UPPER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EXTREMITY_JOINT_DISLOCATION SHOX CHST3 GPC6 FLNB SMARCC2 ARID1B NGLY1 KIF22 MAP3K7 LRP4 EP300 SMARCD1 DVL1 ATR EXOC6B RNU4ATAC SLC26A2 B3GALT6 NIPBL GMNN CHRNG FZD2 GSC ORC6 DYM HSPG2 CANT1 GDF5 FLNA SOX11 EXT1 SCARF2 AEBP1 DVL3 ARFGEF2 ROR2 CREBBP ORC4 COL1A2 PITX1 CD96 SMC3 ORC1 MACROH2A1 XYLT1 SETD5 NXN SOX4 B3GAT3 DONSON ASXL1 WNT5A TMTC3 TBX15 SMARCB1 ARID1A SKI RAD21 ARF1 SMARCE1 CDC45 NOTCH2 PRKAR1A CDC6 EXT2 APC KLHL7 KMT2A ERMARD NOG ARID2 EXTL3 FBN1 SMARCA4 IFITM5 CDT1 COL27A1 BMP1 SMOC1 NEDD4L SMC1A MAP1B HDAC8 ERCC1 DPF2 HP_LOWER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EXTREMITY_JOINT_DISLOCATION CCDC8 KMT2D FANCE HACE1 CCDC47 CTBP1 GLI3 DHCR7 KLHL41 LIMK1 GLRA1 ACTA1 YWHAE MASP1 VAMP1 GPHN PAFAH1B1 FBN2 FANCL PTEN EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 SOX9 GPC3 SLC6A9 COL6A2 ELN COL1A2 BRIP1 PIGL COL2A1 SLC10A7 ATR PORCN RNU4ATAC B3GALT6 NIPBL CHRNG LMOD3 FGFRL1 FUT8 FZD2 BPNT2 FLNB ALDH18A1 GSC CHST11 PUF60 DYM PIEZO2 CANT1 COLEC11 NFIX NSDHL FLNA NEB KANSL1 AEBP1 RREB1 TBX15 SLC5A7 ARFGEF2 UBE3B SELENON TELO2 FANCF EXOC6B LONP1 COL12A1 MYH8 FIG4 SMC3 ALG9 FANCG COL13A1 RYR1 COL6A1 ZC4H2 SLX4 FLI1 PTRH2 TMTC3 GPC4 FKRP FANCB COL6A3 FANCI RAD21 MCTP2 DHODH APC2 EYA1 FANCD2 ARVCF FANCA LMX1B TPM2 DSTYK APC UBE2A SLC2A10 OBSL1 GEMIN4 ATP6V0A2 EXOSC3 BAZ1B MKKS XRCC2 TNNT3 GMPPB HACD1 GNPTAB COL5A2 POMT2 WNT7A ITGA7 OCRL ATP7A UBE2T SMOC1 SMO COL1A1 EBP GP1BB NEDD4L SMC1A GTF2IRD1 MYH7 ADAMTS2 UFD1 LETM1 GDF5 ERCC1 PYCR1 RAD51 MYO9A NOTCH2 CHST3 FANCM RFC2 ATP6V1A ERCC4 INPP5K SLC6A5 SIL1 AGRN GJA1 SNAP25 TBX4 EIF4A3 GTF2I PPP2R5D KIF22 BICD2 ATAD1 LRP4 C12orf57 ARNT2 EP300 NSD2 DVL1 LMNA CUL7 CLIP2 COMT ECEL1 FBLN1 GORAB SF3B4 IARS2 JMJD1C COLEC10 KAT6B HIRA SIX1 RAD51C SLC35A3 BRCA2 AKT1 STXBP1 DVL3 THRA CPLX1 CREBBP DNAJC21 SLC25A1 IFIH1 TBX1 BRCA1 CHRM3 CD96 CLTCL1 TPM3 XYLT1 OFD1 SETD5 ZNF469 MYL2 MAP3K7 SMARCAL1 B3GAT3 MAD2L2 WNT5A FANCC KDM6A COL5A1 CHAT TBL2 GLRB MYH3 ARF1 SLC18A3 NSD1 IL6ST TBCD VAC14 CFL2 FHL1 KMT2A HOXA11 ERMARD ATP6V1E1 USP9X SEC24C PYCR2 ZMPSTE24 MBTPS2 POMT1 SYT2 HSPG2 MAP3K20 SNRPB SETD2 AARS1 RECQL4 MAP1B HDAC8 PALB2 COL3A1 OSGEP LARGE1 HP_WEAKNESS_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_FACIAL_MUSCULATURE TRIM32 BMS1 GMPPB GLE1 SLC39A14 LRP4 COL13A1 SGCD KLHL41 SCO1 CAPN3 SH3TC2 ACTA1 TCIRG1 CLCN4 VAMP1 SUCLA2 NEB NARS2 MYMK ALG2 FTSJ1 TACO1 SIX5 ADCY6 SOST UPF3B RRM2B TK2 PET100 AMER1 SIX1 ABCA1 CHRNB1 RAB39B HCFC1 SYNE1 SLC52A3 TUBB3 LMOD3 SALL4 CHRND CHD7 ARHGEF6 PEX26 ANO5 MYPN PIK3CA DNA2 TRPV4 TPM3 CHRNA1 TPM2 GFPT1 CXorf56 RYR1 POLG2 AGRN AK9 MEGF10 SLC5A7 SPEG SEMA3E TNFSF11 LRP5 COLQ COX10 TTN ARX AKT1 PEX3 COL6A2 BTNL2 GAN IL1RAPL1 MYH7 TFAP2A SCN4A RAPSN POLG SLC12A6 ZC4H2 MYL1 COA8 GJC2 CHCHD10 PABPN1 FKRP GJA1 MUSK RNASEH1 CLCF1 CHRNE COL6A3 COX8A DES PEX1 CNTNAP1 PEX13 EYA1 NOD2 CNKSR2 RPS6KA3 MID2 LRP12 DCTN1 CRPPA CLCN7 SELENON LAMA2 BIN1 YME1L1 PTDSS1 COL4A1 DMPK DOK7 PDGFB SLC18A3 FLNC TSPAN7 MTMR2 POMT2 MECP2 TRAF7 PLEC PEX2 ADSS1 MT-TN SUFU SCO2 SLC25A4 COL12A1 ANKH GNE REV3L PEX16 SPTBN4 ALG14 PEX11B NF2 MSTO1 PTCHD1 ACSL4 MYO9A PEX5 BAP1 CRYAB TWNK SLC52A2 SNX10 TERT SMO NEFL COX6B1 PLXND1 PEX12 ACADS SNAP25 COX14 DPAGT1 DLL4 USP27X ADA2 KBTBD13 PEX6 SQSTM1 VCP HOXB1 COA3 ITGB4 KLHL40 ALG13 ASAH1 KY MGME1 AGTR2 CHKB PEX19 IQSEC2 FRG1 PAK3 SMARCB1 COL6A1 CRLF1 SLC25A1 ZNF41 DNAJB6 IRF2BPL GSN FRMPD4 ZNF711 SMCHD1 DLG3 FKTN POMT1 DNM2 CHAT SYP PEX10 PEX14 LARGE1 GDI1 DMD SLC9A7 CFL2 MT-TE COX20 HLA-DRB1 PYROXD1 MPZ SMARCE1 C12orf65 USP9X SYT2 SLC25A42 LAMB2 DNM1L TGFB1 SLC25A21 MED12 UBA1 TUBB6 BAG3 MTM1 PUF60 ZNF81 MTMR14 OPA1 HP_RETINAL_THINNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_THINNING CNGB3 LAMA1 PROM1 POMGNT1 ALDH3A2 PRPH2 ELOVL4 C8orf37 ABCA4 HLA-A COL2A1 HP_ABNORMAL_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_LEVEL TAF4B CBX2 BAP1 BMP15 TEX15 TERT NR5A1 SMO ESR1 FSHR CYP11A1 WT1 XRCC2 SRY STAG3 LHCGR PPP2R3C POLA1 MAP3K1 AR ANOS1 ZFPM2 KISS1R BNC1 WWOX ZMYND15 NR0B1 DMRT3 SYCP3 SOHLH1 FANCM VAMP7 CYP17A1 DMXL2 NANOS1 HSD3B2 SPIDR POLR3H PSMC3IP PDGFB NSMCE2 PIK3CA DHX37 ESR2 CDH23 MEIOB HSD17B4 SMARCE1 MCM8 CYB5A TEX11 FMR1 TRAF7 GNRH1 GATA4 GDF9 SMARCB1 ERCC6 CFTR MRPS22 SUFU HFM1 TEX14 SOX9 FOXL2 FAM111A CNBP AKT1 LHB SYCE1 NUP107 TDRD9 DHH NF2 PNPLA6 KLHL10 HP_DECREASED_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_GONADOTROPIN_LEVEL GNRH1 DMXL2 SMARCB1 BAP1 SUFU ANOS1 PDGFB PIK3CA TERT AKT1 LHB SMO SMARCE1 NF2 PNPLA6 TRAF7 HP_DECREASED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL DMXL2 SMARCB1 BAP1 SUFU ANOS1 PDGFB PIK3CA TERT AKT1 LHB SMO SMARCE1 NF2 TRAF7 HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL CBX2 BAP1 TERT NR5A1 SMO CYP11A1 SRY PPP2R3C MAP3K1 AR ANOS1 ZFPM2 KISS1R WWOX NR0B1 DMRT3 FANCM VAMP7 BNC1 CYP17A1 DMXL2 HSD3B2 PDGFB NSMCE2 PIK3CA DHX37 ESR2 SMARCE1 MCM8 CYB5A TRAF7 GATA4 GDF9 SMARCB1 ERCC6 SUFU SOX9 FAM111A CNBP AKT1 WT1 NF2 HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL BAP1 LEPR POR TERT CHD7 SMO NR5A1 FGFR1 FSHR B4GALNT1 CYP11A1 INSR FSHB SRY GNRHR WDR11 KISS1 NR3C1 TAC3 MAP3K1 PROKR2 ANOS1 POLR3A ZFPM2 SLC39A4 LMNA WWOX NR0B1 DMRT3 NFKB2 POLA1 VAMP7 SPRY4 CYP17A1 TACR3 DMXL2 FGF17 PDGFB PIK3CA DHX37 GNRH1 SMARCE1 DMPK CYB5A LEP PROK2 FGF8 TRAF7 NSMF GATA4 DCAF17 SMARCB1 ZMPSTE24 TP53 CYP11B1 SUFU SOX9 WNT4 AKT1 HS6ST1 LHB WT1 RBM28 KISS1R DUSP6 DHH NF2 HP_INCREASED_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANDROGEN_LEVEL POLR3A FSHR TP53 CYP11B1 INSR POR WNT4 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 AIP DCAF17 GHSR SMPD1 MCTP2 IGFALS ADAT3 MEN1 RBM28 NFKB2 IGF1R GHR HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 DCAF17 GHSR ADAT3 RBM28 NFKB2 SMPD1 MCTP2 IGFALS GHR HP_ABNORMAL_SERUM_INTERFERON_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERFERON_LEVEL IFIH1 SP110 TREX1 RNASEH2A SAMHD1 RNASEH2C ADAR STAT1 RNASEH2B HP_ABNORMAL_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_AGGREGATION GP1BB ITGA2B RASGRP2 GP9 DTNBP1 NBEAL2 KCNJ1 ITGB3 P2RY12 EPHB2 PLAU BLOC1S3 GP1BA PLA2G4A THPO RUNX1 GATA1 VWF SH2B3 HPS6 GUCY1A1 FLI1 CALR ABCG8 TBXA2R CISD2 HP_GLUCAGONOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCAGONOMA MEN1 CDKN2B CDKN2C GCGR CDKN1B CDKN1A HP_PANCREATIC_ENDOCRINE_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ENDOCRINE_TUMOR MEN1 CDKN2B MAFA CDKN2C GCGR CDKN1B CDKN1A TSC1 TSC2 HP_PRIMARY_PERITONEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_PERITONEAL_CARCINOMA BARD1 CHEK2 BRCA1 BRIP1 NBN RAD50 TP53 RAD51D PTEN BRCA2 MRE11 RAD51C RAD51 PALB2 HP_PULMONARY_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CARCINOID_TUMOR DAXX LMNA SDHD ATRX CDKN1B HP_SOFT_TISSUE_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_SARCOMA MC1R FLCN MLH1 PIK3CA BAP1 SSX1 CEP57 ELMO2 PTPRJ MTAP SLC22A18 TERT TSC2 KLLN FLT4 SMO FH KEAP1 DCC APC NF2 ABCA5 TSC1 IFNG MAP2K1 MCC FGFR3 PTEN KCNN3 CASP10 CDC73 RASGRP1 AURKA FAM20C ATP6V1B2 CDKN1B PTCH1 DLC1 CTNNB1 KCNH1 PAX7 TP53 KRT17 PDGFRB MLH3 NOTCH3 AKT1 PAX3 MSH2 PLCD1 GJC2 FOXC2 SMARCB1 HRAS PRLR BRAF TRIP13 SEC23B REST FOXO1 ANTXR2 RSPRY1 SOS1 SPRED1 DICER1 BUB1B MEN1 PTPN12 PLA2G2A PTPN11 NF1 BMPR1A GREM1 FLNA EP300 KIT RAD54B FASLG SDHB NRAS PRKAR1A MSH6 DHCR24 BUB3 COL1A1 FAS PTCH2 BUB1 PMS2 SSX2 PDGFRL USF3 AXIN2 KRAS SDHC PDGFB NBN TLR2 SMARCE1 VEGFC TRAF7 CCND1 ODC1 SUFU CDKN1A BAX PRKCD SRC CDKN2B CDKN2C ASPSCR1 SDHD HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY RD3 PROM1 RAB3GAP1 PDE6H BEST1 CNGB3 PSAP KCNJ13 ATXN3 REEP6 PRPF6 PDE6A KIAA1549 PRPH2 CNGA3 IFT140 GUCA1B CLRN1 PDE6G PDE6C RAB3GAP2 CRB1 EMC1 PCYT1A CRX TOPORS EYS BBS5 IDH3B MFRP RDH12 PIEZO2 ZNF408 SCAPER ARL2BP GALC CABP4 AIPL1 MYO7A ERCC8 RLBP1 PDE6B TRIM32 NUP62 AGK USH2A COQ2 OPN1LW SAG USH1C VSX1 MCOLN1 RGR PRPF3 TTPA WHRN MFN2 ACOX1 SPATA7 RPE65 SUCLA2 NRL SLC7A14 MKS1 OPA1 PDSS2 ABCA4 RHO ADAR PDZD7 PPT1 AGBL5 POMGNT1 GUCA1A WWOX BBS4 PEX12 RPGR HADHA RPGRIP1 RP1 TCIRG1 ARSA OPN1MW TRPM1 LAMA2 ATXN1 RBP3 CNGB1 TNFSF11 RAB18 CERKL ARHGEF2 ZNF513 IMPDH1 CACNA1F IQCB1 CACNA2D4 TBC1D20 LRAT TPP1 RDH5 SNX10 AHI1 CLCN7 WDPCP CDH23 OFD1 CLN3 PCDH15 HSD17B4 ATF6 PRCD PEX1 USH1G ADGRV1 ARL6 HARS1 BBS12 PNPLA6 CEP290 CDHR1 ARSG RNF216 CEP104 CNGA1 DHDDS SLC25A4 ERCC6 LCA5 GDF6 KIZ IFT27 RS1 ALG3 BBS10 SDCCAG8 PRPF8 DHX38 IDH3A CAPN5 NEK2 NR2E3 BBS9 POLG MAK PDE6D BBS2 ZNHIT3 RP9 BBS7 TYR KLHL7 TULP1 ELOVL4 GJC2 LZTFL1 C8orf37 AAAS CEP78 RP1L1 PLA2G6 TIMP3 NDRG1 BBS1 TIMM8A CHM RP2 IFT172 PRPS1 POGZ NMNAT1 FAM161A OPN1SW MKKS ROM1 GUCY2D MT-ATP6 USP45 CIB2 PRPF4 LARGE1 NPHP1 CA4 TUB GNAT2 TTC8 SEMA4A ARL3 RDH11 SNRNP200 IFT88 PCARE ESPN TKFC NOTCH3 FSCN2 SLC25A22 MERTK BBIP1 FXN HGSNAT IMPG2 PGAP1 FLVCR1 PRPF31 ARHGEF18 AHR MT-TS2 GNB5 HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM CLRN1 MFRP CERKL ZNF513 C8orf37 IMPDH1 IDH3B RPE65 RLBP1 CACNA2D4 RHO LRAT ADAR RDH5 OPN1SW AIPL1 PPT1 TTC8 CABP4 RS1 NR2E3 POMGNT1 ALG3 GUCY2D MT-ATP6 USP45 LARGE1 PRPH2 NUP62 BEST1 CACNA1F SAG MCOLN1 RPGRIP1 RP9 RP1 RGR ACOX1 PDE6B HP_EXUDATIVE_VITREORETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXUDATIVE_VITREORETINOPATHY LRP5 CTNNB1 TSPAN12 ZNF408 NDP FZD4 VCAN HP_CHORIOCAPILLARIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIOCAPILLARIS_ATROPHY CRB1 ACVRL1 PRPH2 GUCY2D GUCA1A HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION CFHR3 HMCN1 CFHR1 CTNNA1 SLC38A8 APOE RAB28 HP_MACULAR_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_THICKENING ARL3 POMGNT1 PRPF31 PRPH2 NOD2 TREX1 MFRP DHDDS NRL TRNT1 NR2E3 RLBP1 REEP6 HLA-A RHO RP9 RDH5 RP1L1 NF2 APC PRPF8 PDE6G ARHGEF18 HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA PROM1 HMCN1 CFHR1 ELOVL4 IMPG2 IMPG1 CFHR3 CNGB3 PRPH2 BEST1 ABCA4 APOE HP_RETINOSCHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOSCHISIS RS1 ACTG1 ACTB MFRP NR2E3 HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA PROM1 TSPAN12 HMCN1 CTNNA1 LRP5 RLBP1 IFT172 RHO CNGB3 TMEM98 RDH5 RB1 BEST1 PRPH2 CFH ABCC6 TREX1 FZD4 KCNJ13 RIMS1 XYLT1 GUCY2D IMPG2 CFI APOE GUCA1A AGXT CFHR1 MFRP ELOVL4 TINF2 FBLN5 IMPG1 NDP FAM111A CFHR3 XYLT2 ABCA4 ZFYVE26 CTC1 HP_MODERATELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATELY_REDUCED_VISUAL_ACUITY LRP5 IMPG2 RAC1 DNM1L OPA1 IMPG1 HP_HETERONYMOUS_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETERONYMOUS_HEMIANOPIA CDH23 AIP SMARCB1 BAP1 SUFU PDGFB CTNNB1 PIK3CA TERT AKT1 SMO BRAF SMARCE1 MEN1 NF2 TRAF7 HP_VISUAL_ACUITY_TEST_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_ACUITY_TEST_ABNORMALITY LRP5 SMARCB1 POU3F4 BAP1 SUFU PAX6 PDGFB PIK3CA TERT AKT1 SMO SMARCE1 NF2 APC TUBB3 TRAF7 HP_ABNORMAL_VISUAL_FIELD_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIELD_TEST SMARCB1 BAP1 SUFU PDGFB CTNNB1 PIK3CA TERT AKT1 SMO BRAF CDH23 SMARCE1 NF2 MT-ATP6 TRAF7 HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING PROM1 CWC27 PRPF31 SELENOI SLC24A5 PRPH2 TRNT1 GUCY2D C8orf37 HLA-A PMM2 GUCA1A HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING PROM1 CWC27 PRPF31 PRPH2 GUCY2D C8orf37 GUCA1A HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY SELENOI SLC24A5 PRPH2 TRNT1 GUCY2D HLA-A PMM2 GUCA1A HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE PROM1 PRPF31 PRPH2 GUCY2D GUCA1A HP_RETINAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NEOVASCULARIZATION LRP5 CAPN5 NDP FZD4 BEST1 HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE MIB1 LDB3 HCN4 ACTC1 SDHD ACTN2 PRDM16 MYBPC3 MIPEP SDHAF1 DTNA NONO MYH7 JUP COA6 SDHA TNNT2 HP_BRAIN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_NEOPLASM POLE POLD1 APC DMPK RB1 C11orf95 RELA FLI1 HP_SACROCOCCYGEAL_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACROCOCCYGEAL_TERATOMA NSD1 SETBP1 MNX1 APC2 SETD2 HP_RENAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_FIBROSIS MUC1 NPHP3 PKHD1 SLC7A7 ACP5 CLCN5 NPHP1 BSND PTPRO ANTXR1 GBE1 SFTPC NPHP4 REN HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY DPM1 PROC F5 NGLY1 PROS1 HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL SP110 RASGRP1 CASP10 FAS PRKCD FASLG HP_ANOMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMIA TMEM106B CHMP2B C9orf72 TREM2 MAPT PSEN1 GRN HP_PHOTOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPSIA GNA11 CYSLTR2 BAP1 GNAQ SF3B1 ARHGEF18 HP_ABNORMAL_JAW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JAW_MORPHOLOGY TWIST1 POLR1A CTBP1 GLI3 SLC6A8 WNT10A NEB NEK9 LRP4 TCOF1 RAB3GAP1 SOX9 GPC3 RRAS2 OSTM1 UBE3B UPF3B FGFR2 BRIP1 MOGS COL2A1 SIX1 MED25 NSD1 BPNT2 KCNH1 PUS7 GJA1 CHD7 HSPG2 CACNA1G SH3BP2 GSC BANF1 HCCS PEX1 SF3B4 WDR35 CC2D2A NFIX MYH3 GFPT1 LGI4 PTCH1 RUNX2 BPTF NUP133 NCAPG2 ATP7A SEC23A RAF1 EMG1 DGCR8 KCNK4 COLQ FGFR1 ABAT HDAC6 MYH8 ORC6 PI4KA HRAS TBX1 RNF113A SETBP1 RAI1 TFAP2A CEP57 SEMA3E CHST14 CHRND RPGRIP1 CEP120 ESS2 BSCL2 GATAD2B PIEZO2 IFT43 HDAC8 EDNRA COL6A1 ESCO2 MRAS SLX4 PEX10 NEK1 NUP107 PTCH2 INSR OCLN TAB2 GLB1 POMGNT1 CHRNG DVL1 SUFU RAD21 NEDD4L TGFA BUB3 DHODH CEP290 CASK NALCN MBD5 SLC26A2 FLCN TPM2 COL11A1 ATRX FANCA TRIP11 KDM6B KLHL7 DGCR6 PEX12 DSE PEX7 BRF1 CHUK RAB23 VARS1 RAB18 GEMIN4 PHGDH DOCK3 NECTIN1 TSEN54 TAF1 SEC24D XRCC2 TBC1D20 TMEM67 MPLKIP TENT5A OFD1 FBXL3 TOE1 HYMAI SSR4 SALL4 SOST OCRL SUZ12 EBP ERCC2 WNT5A ALX4 AGPAT2 ATAD3A TINF2 HSD17B4 LTBP4 GTF2IRD1 COG8 UFD1 LETM1 FANCB SH3PXD2B WT1 GPKOW SH2B1 FANCM AGRN ERCC6 MEN1 SLC9A6 ZMPSTE24 TONSL PKHD1 XRCC4 C12orf57 EP300 DIS3L2 ALX3 IRF6 ANKH ANKRD11 EXTL3 DEAF1 SIN3A CUL7 PDE4D CLIP2 COG6 COMT WDPCP PLK4 TBC1D7 ACTG2 PAX9 DOK7 CLCN7 SMAD4 ERF ERCC3 PLAA EFTUD2 MAFB DCHS1 SOX5 PEX5 PCGF2 LRP5 CEP135 ERLIN2 DNMT3B HIRA TGFBR2 PTH1R PLA2G6 RNF125 FBN1 CRIPT SRY PTDSS1 STAG2 CPLX1 AIP TGFBR1 CREBBP OTUD6B TMEM107 DNAJC21 SLC25A1 WDR34 FGFR3 SOS1 CRPPA RERE EZH2 GNAI3 TERT NSD2 WNT3 TRIO MKS1 TRPS1 PEX2 KCNK9 TNNT3 MAD2L2 MED12 GRIP1 FGD1 GATA4 VPS13B ACAN DYNC2H1 PEX13 TGFB1 DGCR2 SLC18A3 CHSY1 PIK3R1 STRA6 NAA10 POLA1 KMT2A AGA BDNF HUWE1 ARX RPS26 PIGN RPL10 ABL1 RIT1 CILK1 ATR TRAIP COL1A2 TUBB LMNA TNNI2 TPM3 IGF1R ALX1 FAT4 ERCC5 PRKAR1A DLX4 GRHL3 TAPT1 NBN CTC1 ERBB3 PMM2 NSMCE2 CDC6 RECQL4 SMAD3 POLR3A PALB2 WNT10B THOC6 PDE6D P4HB ASNS CSNK2B COL13A1 DHCR7 KLHL41 NSDHL GPC6 ACTA1 MYO18B RTTN GPC4 SC5D CEP152 TCTN3 PEX16 A2ML1 COL6A2 TGFB3 NUP188 RPS6KA3 COASY ZNF335 SHOX CPLANE1 RNU4ATAC B3GALT6 AMER1 B3GLCT TUBB3 ERCC1 MRPS22 FZD2 FLNB EDA MSTO1 TBCK GMNN HYOU1 PUS1 COL11A2 COLEC11 ATPAF2 TXNL4A RREB1 LAS1L SELENON LAGE3 COL12A1 PAH WASHC5 TMEM216 PITX2 TMCO1 ACTB PEX19 TRMT10A NXN TBCE GALNS ACTA2 SLC12A6 SEMA5A IGF1 COG1 UBE3A TBX15 HELLS MAN2B1 PRKG1 ADGRG6 WDR60 EED PSMD12 KAT6B KCNJ2 CNTNAP1 MYH7 SLC25A24 FANCD2 GNPAT AEBP1 SCN9A RIPK4 LIFR POLE DVL3 FLNA IL11RA SUMO1 BCL11B BAZ1B PIK3CA CENPF CCBE1 RYR1 UBA1 HS6ST2 CDC73 SMOC1 ZDHHC9 RBBP8 TP63 GP1BB RHOBTB2 REV3L ACTG1 CAVIN1 DLG1 RAD51 CRLF1 PLCB4 COL9A3 PEX11B PCNT COL3A1 ADAT3 LIG4 CENPJ EDARADD MAP2K1 PAX3 MFAP5 SMC3 EPG5 PTEN HYLS1 APC BCL11A MUSK IGBP1 WDR26 BRAT1 LOX ATRIP ERGIC1 BRAF SPEG IRX5 ZNHIT3 ZBTB20 FMR1 FAM20C ECEL1 POLR1D CDCA7 HOXB1 PIGV PIGO DPH1 AKT1 RLIM ADAMTS3 PIGL ADAMTSL4 GBA RAD51C PUF60 KRAS GNPTAB RSPO2 CTNND2 GLI2 ALG1 IDUA CD96 ALG9 POC1A FLII SETD5 CHRNA1 MYL2 LZTR1 CCDC22 MYOD1 KIF7 POGZ COL6A3 EXT2 MGAT2 CNTNAP2 PARN CHAT ARL6IP6 ASXL2 KDM5C SERPINH1 CDT1 ATP6V1A SLC6A17 UBB DHCR24 PIGW PHIP CANT1 SLC35A3 TBCD FOXE1 CSPP1 AHDC1 NOTCH3 DPAGT1 SLC25A19 RRAS IARS2 MAT2A NDUFB11 ANKLE2 BUB1B IGFALS SNRPB SETD2 RPS19 ABCC9 ANTXR1 DSTYK OSGEP SMS GLE1 PIGY PDGFRB LIMK1 PRRX1 RPS28 FBN2 FANCL KIFBP AFF4 FOXG1 MAPRE2 AMMECR1 MAP3K7 CCNK COG7 SLC6A9 SIX5 KIF11 ELN ARID1B DPM2 CEP55 C1R MED13L ATP6V1B2 WRAP53 SMC1A KIF14 CLIC2 FGFRL1 FUT8 BMP2 WDR4 MTM1 DYRK1A ERCC8 SLC5A7 PEX6 TELO2 TNFSF11 ROR2 HMGA2 DNA2 TWIST2 IGF2 SNIP1 ITGA8 MMP2 EYA1 MYMK ZC4H2 DZIP1L OTX2 TMEM70 C2CD3 PLAGL1 PQBP1 MEGF8 SKI MIR140 MCTP2 AP3D1 ARVCF KIAA0586 COL9A2 B9D1 LAMA2 EXT1 CTU2 HBA1 DONSON PTPN11 IQSEC2 HNRNPH2 VPS33B FOS KAT6A POLR1C IL1RAPL1 STAMBP LEMD3 UBE2T HERC1 BNC2 FARS2 MAF EDN1 ADAMTS2 KPTN PPARG SOS2 STAG1 COL10A1 MYH11 NUP88 PYCR1 RBM10 MYO9A PEX14 PREPL RFC2 ERCC4 CDH11 ADAMTS10 SNAP25 BICD2 FOXP1 LTBP3 ARNT2 ZBTB24 FRMPD4 PNKD GORAB C1S MYCN CHRNE JMJD1C MECP2 GRIA3 ZBTB18 RPL5 GNAS GHR ASPH FGF3 AUTS2 BRCA2 NELFA NSUN2 TRRAP DDR2 CXorf56 BRCA1 EMC1 DYM DPM1 TCTN2 TARS1 FLVCR2 B3GAT3 ZBTB11 COL5A1 KDM6A SP7 CSNK2A1 CAV1 RAB3GAP2 PIEZO1 CDC45 TTN KCNJ6 CDH1 EFEMP2 CFL2 BUB1 PPP1R15B MYLK SATB2 INTU SPECC1L SEC24C COL1A1 GLDN MAGEL2 BMP4 PYCR2 FTO SYT2 DOCK6 LAMB2 PRMT7 RB1 SON TPRKB PGAP2 FANCE SHANK3 TRIP4 VAMP1 PGM1 NOP10 IFT80 RBM8A RFWD3 SPRTN PSAT1 ALG11 TGFB2 YARS2 COX7B CLCF1 SLC10A7 NIPBL COG4 HNF4A GTF2H5 LMOD3 CENPE RFT1 TSR2 INTS1 SCARF2 FANCF HNF1B PEX26 TRIP13 GPR101 CDK5 P4HTM SPRED1 FIG4 GTF2E2 SFRP4 ZNF341 AIMP2 FANCG PPP3CA YY1 ASXL1 NRXN1 SLC2A10 RSRC1 ANK1 TAZ RUSC2 FANCI APC2 MSX1 ORC1 PIGA MCM5 NRAS CHN1 RTEL1 CBL LRP6 HACD1 RPGRIP1L ITGA7 SMO RARB RAPSN LBR ARHGAP29 LOXL3 CUL4B NOTCH2 CHST3 PEX3 CCDC88A FAM149B1 PLXND1 CLCN4 WNT7A TBX4 EIF4A3 GTF2I BMPER PIGT KCNN3 RASA2 CA2 KBTBD13 UNC80 OPHN1 B9D2 PSPH COG5 NPM1 AP4M1 COL9A1 D2HGDH STAC3 EHMT1 IBA57 KIAA0753 DNMT3A MYPN HERC2 PAX6 FOXC1 ORC4 ARCN1 IFIH1 WDR73 BIN1 ADAMTSL1 ANO5 SCYL2 CLTCL1 TERC ABCD4 NHS SIM1 DPYD TP53RK PHF21A CTDP1 SLC3A1 HNRNPU PAX1 CTSK FANCC TBL2 TGDS POLD1 ERMARD PEPD AXIN2 RDH11 TUBGCP2 PRRT2 VAC14 FHL1 KCTD1 KNL1 BGN MITF NHP2 TMEM231 CWC27 PYROXD1 USB1 MAP3K20 PGAP3 MAMLD1 FOXE3 SPATA5 DKC1 AP1S2 ARID2 HBA2 SOX18 HP_ABNORMAL_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_C_PEPTIDE_LEVEL GCK BLK INSR HNF1A APPL1 ABCC8 HADH CEL PDX1 STAT6 NEUROD1 NAB2 HNF4A PAX4 KCNJ11 INS KLF11 HP_SCAPHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPHOCEPHALY TRAIP NFIX IL11RA IFT43 DPH1 FBN2 PEX19 CNTN1 TWIST1 FBN1 IFT140 KPTN IDS HSD17B4 KIF15 IFT122 ARCN1 IL6ST KRAS GLI3 TBC1D7 OFD1 HP_ABNORMAL_TONGUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_MORPHOLOGY SNX14 SLC26A4 LIFR PIK3CA CCDC47 CSNK2B GLI3 DHCR7 TMEM231 LIMK1 SH3TC2 ARID1A PRRX1 FKRP TCTN3 AFF4 DDX59 IFT80 IL36RN MYMK FOXG1 CRPPA COG7 MT-TE GPC3 SETBP1 ELN SLC6A19 CEP55 GMPPB COL2A1 ATRX MED13L CPLANE1 LAMA3 MED25 ATP6V1B2 PKP1 CLIC2 FZD2 KCNH1 LIMS2 TBCK TSHR WDR35 CC2D2A ABCC9 PLCB4 IFT140 ACVRL1 TELO2 ROR2 COL11A2 GPR101 POLR1D TMEM216 FIBP MAN2B1 SNIP1 FIG4 TRIM37 HRAS RSPO2 KDM5C NXN RPGRIP1 VPS33A CEP120 NKX2-1 EDNRA MT-TW GJB2 NFASC NEK1 UBE3A TBX15 GPC4 HELLS COL7A1 INSR OTX2 RBBP8 FRAS1 AIP KIAA0753 WDR60 DVL1 FREM2 FAM20C C2CD3 SMARCB1 PAX8 PLAGL1 SNRPB AGA TRMU MCTP2 PIGW NFIX GNAI3 CEP290 TSHB PSMB8 RERE MORC2 NKX2-5 MAPK1 B9D1 LAMA2 SLC39A4 ARSB CHUK PTPN22 LAMB3 SDHC EXOSC3 DNMT3B AMPD2 BAZ1B SGCG TMEM67 GJB6 KY TBX22 OFD1 PTH1R EDN1 MMP1 HYMAI RPGRIP1L GNPTAB POMT2 IGF2 SLC46A1 SMO WNT5A DUOXA2 REV3L TAF1 PANK2 PEX1 GTF2IRD1 DVL3 RBM10 CUL4B RIPK4 RFC2 KLLN RAB3GAP1 ENG FAM149B1 GATA1 PLXND1 LMBRD1 GTF2I TPO INPP5E TRAF3IP2 PQBP1 ALX3 PTEN FOXE1 KCNN3 POMGNT1 POMT1 B9D2 CLIP2 CRKL FAM111A WDPCP KCNMA1 NRXN1 ECEL1 POMK SLC5A5 FUCA1 CDCA7 KIF7 EHMT1 TCOF1 KRT6A SOX5 VPS13A NOP56 WNT10A AKT1 FLNA DMPK DUOX2 ACTB BCR LAMC2 ZBTB24 FRG1 RNF125 HEXB PTDSS1 THRA GRIP1 IDS POLR1C SEC23B ECM1 WDR34 POP1 CSPP1 GSN TCTN2 GAA IYD MKS1 TG POU1F1 SLC25A24 MGAT2 KCNQ1OT1 VPS13B TBL2 TGDS SDHB LARGE1 DYNC2H1 PIK3C2A RAB3GAP2 IL6ST VAC14 SLC52A3 CDKN1C USF3 COL11A1 SMARCA4 PIGS RUNX2 PEX16 CCDC22 KCNQ1 BMP4 BTK IDUA TMEM107 FTO TRHR PRKAG2 ERLIN2 PDE6D SDHD SOX9 LMNB2 FDX2 HP_ABNORMAL_TONGUE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_PHYSIOLOGY ALS2 TBCD EXOSC3 SLC52A2 SH3TC2 PLCB4 WNK1 KIF1A ELP1 KCNK9 VPS13A NOP56 ASAH1 ERLIN2 TSPYL1 SMN1 RETREG1 SMN2 FRAS1 OPTN ATP13A2 GNAI3 TUBB4A SLC39A4 MTPAP VCP EDN1 SLC25A21 UBA1 RMND1 SLC52A3 FXR1 AGTPBP1 AIFM1 SCN9A ADPRS HP_GINGIVAL_RECESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_RECESSION C1R VAC14 CTSC DSP FIG4 HP_ABSENT_FOVEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOVEAL_REFLEX HPS6 RDH5 PRPH2 ATF6 CACNA1F RLBP1 RBP4 RHO HP_WHEEZING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHEEZING DNAH1 SCNN1G SCNN1A CFTR SCNN1B HLA-DQA1 HLA-DQB1 NOS1 CRLF1 HP_ABNORMAL_BREATH_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BREATH_SOUND DNAH1 VPS33A MYO9A MAP3K7 COQ2 VAMP1 COL13A1 AGRN CRLF1 PARN TRPV4 SNAP25 HLA-DQA1 SCNN1A CHAT CSF2RB PAX8 SFTPC ABCA3 SLC5A7 SLC18A3 SCN4A GNPTAB SCNN1G TERC SLC52A3 SFTPA1 PLP1 IGHMBP2 D2HGDH FLNA CFTR SLC18A2 GTPBP3 FAM13A STN1 DSP RTEL1 CSF2RA SFTPA2 TSPYL1 SERPING1 SCARF2 SYT2 TERT ATP11A NOS1 SCNN1B SLC25A1 DPP9 MUC5B HLA-DQB1 HP_CRACKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRACKLES CFTR SFTPC ABCA3 FAM13A STN1 DSP RTEL1 TERT ATP11A SCNN1B SCNN1G TERC CSF2RA PARN DPP9 MUC5B SFTPA1 SFTPA2 SCNN1A CSF2RB HP_SHOULDER_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_PAIN CFH PMP22 CD46 HELLPAR CFI HP_HIP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_PAIN VCP COL2A1 TRPV4 HNRNPA2B1 HNRNPA1 BSCL2 HP_CHOKING_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOKING_EPISODES MYO9A SLC25A1 SLC5A7 SNAP25 SYT2 CACNA1A CHAT VAMP1 COL13A1 SLC18A3 AGRN HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY JAK2 F5 MPL BMPR2 CD55 TET2 HP_HETEROTAXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTAXY LETM1 PKD1L1 NSD2 GATA4 GDF1 FANCB CFC1 NR2F2 NODAL GATA6 MMP21 CFAP53 ZIC3 ACTG2 CRELD1 NELFA HP_ADDICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDICTIVE_BEHAVIOR TBK1 TBL1XR1 GABRA2 TICAM1 HTR2A NPM1 ZBTB16 NUMA1 STAT3 NABP1 BCOR TLR3 RARA TRAF3 FIP1L1 STAT5B PRKAR1A ADH1C UNC93B1 PML IRF2BP2 ADH1B HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION TWNK PRDM16 ACTA2 DYSF SDHAF1 MT-ND5 TAB2 LDLR MT-CYB FKRP CASQ2 SMAD4 MT-TV MT-CO2 PRKG1 MT-CO1 MT-TF SDHA SMAD3 DVL1 MT-TW TRDN MFAP5 ROR2 SELENON ABCG8 DLD DAXX EYA4 ATRX MYH7 TOP3A RYR2 LOX TGFBR2 ELN RRM2B TET2 SDHD LDLRAP1 MYLK LAMA2 POLG MT-TC GTPBP3 KIF20A TGFB3 POLG2 SGCG HLA-DRB1 PCSK9 APOB MT-TS2 POMT2 MT-TQ MT-TK MT-TL1 DMPK TNNT2 MAT2A TTN LDB3 LMNA PPCS FBN1 BTNL2 WNT5A TGFBR1 TNNI3 MYPN TGFB2 MT-ND6 GDF1 ABCG5 MT-CO3 SLC25A4 NONO FLNC SDHB FOXE3 DVL3 POMT1 MYH11 BMPR2 MT-ND1 HP_ABNORMALITY_OF_PULMONARY_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION VPS33A LIFR SFTPA2 NKX2-1 IL12A IRF5 KCNJ5 G6PC3 FGFR1 JAK2 ARHGAP31 AFF4 PTEN CAV1 HBB SERPINC1 STAT1 FGFR3 KCNK3 LIPT1 GDF2 TET2 PAM16 FOXP1 MEFV MT-TF IL12A-AS1 MLX IL10 SFTPC CHST3 IL12B COL1A1 GATA6 THPO MED25 GNAQ STAT4 HLA-DRB1 KCNN4 IL23R COX7B CBS ERAP1 BANF1 HSPG2 SCARB2 PROS1 SMAD4 MUC5B CCR1 TERT NFIX ACVRL1 F2 MT-ND1 MT-ND4 CCR6 PROC NOTCH1 TNNT2 KLRC4 ATP5F1A AKT1 CACNA1D MT-CO1 MYPN COLQ MT-TW MT-TQ MT-ND5 SMAD9 FIG4 ABCD4 GBA EIF2AK4 FBN1 SLC37A4 MT-ND6 MGP HLA-B BSCL2 ALMS1 KRAS DOCK6 BMPR2 MED12 SLC25A24 CCN2 EOGT MT-CO3 CTCF PLP1 FOXF1 KIAA0319L C4A SFTPB AGGF1 KRT18 UBAC2 NOD2 DLL4 VAC14 TCIRG1 COG1 F13A1 PIEZO1 IKBKG LAMA2 UBE2A PIGN MT-CO2 GJA1 HABP2 TNFSF11 KIF20A RBPJ COL1A2 MT-TS2 KRT8 SPECC1L SNX10 FOS PDSS1 MPL CLCN7 SARS2 MTHFR ENG CD55 PPCS SLC4A1 FLNA AGPAT2 TBX4 TNNI3 LAMB2 TLR4 ACTA2 FLNC MT-TL1 PPARG NFU1 CAVIN1 IDUA MT-TH PIGA FAS LIPA HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING BAP1 ICOS TERT FKRP SMO FGFR3 TSC1 NFKB1 CRPPA ABCC6 TRAPPC11 MT-TN CTLA4 DNASE1L3 GNPTAB MS4A1 MESP2 XYLT1 CD81 CHRNB1 SYNE1 RNF168 STAC3 MT-TL2 PIK3CA CHRNE SLC34A2 CD19 DKC1 CSF2RA COL2A1 FRG1 AK9 MEGF10 MT-TL1 SMARCB1 PTPN22 TTN TNFRSF13B HLA-B DDR2 AKT1 XYLT2 COL6A2 NLRP3 LRP4 PRTN3 TPM3 HPS1 TNFRSF13C CHRND SCN4A RAPSN HPS4 GALNS SLC12A6 ACTA1 RYR1 SGCG CHCHD10 SCNN1A GLB1 MUSK CSF2RB SELENON FLNB IKZF1 MYH7 HES7 SCNN1G ACP5 LRP12 GZF1 PIEZO2 TNFSF12 CFTR CR2 DOK7 PDGFB COL13A1 NFKB2 SMARCE1 TPM2 TRAF7 HLA-DPB1 HLA-DPA1 SUFU PRKCD TSC2 SCNN1B CHRNA1 SLC25A21 AGRN NF2 BAG3 HP_RAYNAUD_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAYNAUD_PHENOMENON IFIH1 RNF125 AGXT TREX1 COQ2 RNASEH2A SAMHD1 LBR RNASEH2C CLCNKB STING1 COL4A1 GUCY1A1 SLC12A3 STAT4 IRAK1 ADAR SPP1 RNASEH2B ADA2 HP_CORONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ANEURYSM APOB ABCG8 PRKG1 LDLRAP1 ABCG5 PCSK9 LDLR HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI DDHD2 MSTO1 CACNA1G RARS1 AP5Z1 TRAPPC12 ARSA SELENOI NKX6-2 PSAP B4GALNT1 PUS3 AHCY CYP7B1 ACTL6B PYCR2 STRADA COL4A1 GM2A PAK1 UBTF ACTA2 RFT1 HTRA1 ZFYVE26 ATN1 SLC39A14 HP_PERIVENTRICULAR_WHITE_MATTER_HYPERDENSITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERDENSITIES STRADA DDHD2 GM2A ARSA SELENOI PAK1 ACTA2 PSAP ACTL6B HP_ABNORMAL_PERISTALSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERISTALSIS FLVCR1 ACTG2 IARS2 GMPPA LMOD1 AAAS ACTB GLA ACTA2 CLMP MYH11 TRAPPC11 GUCY1A1 SAMD9 MYLK RAD21 HP_PULMONARY_VENOUS_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_VENOUS_HYPERTENSION FLNC SLC4A1 KCNN4 PIEZO1 KIF20A TNNI3 MYPN TNNT2 HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY SLMAP LIMK1 TTR ELP1 LMNA CPOX MT-ND1 MT-CO1 PTEN CSRP3 SCN5A SCN1B KCNK3 NF1 GPC3 RRAS2 PEX7 ELN CTLA4 KCNH2 RPL5 CACNB2 GATA6 KCNQ1 RRM2B MT-ATP6 MRPS14 MFAP5 SYNE2 MT-TC CLIC2 TSC1 CACNA1C MMP14 BMP2 GNA11 BANF1 TRPM4 HCCS HADH GLA DBH MT-ATP8 MT-TK MT-TL1 MT-ND4 TMEM43 GNB5 DMD BPTF POLG2 TNNT2 ERCC8 RAF1 TRDN CALM1 FHL1 LRP6 TNNI3 GJA1 HLA-B MT-TQ RUNX1 SDHB MT-CO3 NDUFS2 TTPA HRAS SCO2 KCNE3 MYBPC3 SYNE1 CACNA1S BSCL2 SCN10A GNAS PHYH MRAS CALM3 GPC4 PIK3CA TAB2 SNTA1 ABCC9 CSF2RB TMEM70 SELENON ACADVL PAX8 SDHA DES TECRL SLC19A2 ABCG8 DAXX KCNE2 KCND3 PEX1 COQ4 AKAP9 RPS28 MT-CYB SLC25A20 PSMB8 TCAP FOXC2 RET LAMA2 RPL11 BRF1 PTPN11 LAMP2 NKX2-5 SLC25A11 DST SCNN1A GALC SEMA3A FOS GPD1L JPH2 RBM20 TSPYL1 LDB3 PLEC DCAF17 HLA-DPB1 TP53 PRKAG2 AGPAT2 PKP2 PPA2 PLN COQ9 MT-ND5 CACNA2D1 TPM1 GTF2IRD1 SDHC PEX16 PPARG SOS2 MT-TH SDHD PEX11B MYOZ2 PCCB ALG10B EFEMP2 PEX5 MYH7 MYLK2 RFC2 KCNJ2 PSMD12 SDHAF1 KCNJ5 LDLR ERCC6 WIPF1 DLST CASQ2 PCCA CAV3 CPT1A PEX12 HNF1A MT-TW EP300 GATAD1 RYR2 RNASEH1 BVES ACTC1 MMP2 CLIP2 PYGM SCNN1G GPX4 SCN4A EMD XK WAS FLNC GATA4 HCN4 RPS27 RPS7 ENPP1 ALPK3 MTM1 MT-TS2 MGME1 GTPBP3 DMPK UCP2 TNNC1 GNAI2 PEX19 AKT1 SRY KCNE1 MYPN MYL2 CREBBP POLG DSC2 ACADM HBB SCN2B SOS1 MYH6 RYR1 PRTN3 MDH2 GSN CACNA1D MT-ND6 DNMT3A PPOX GAA FBP1 SCN4B MT-ND4L HJV HMGCL RPS17 STX16 MEFV MYL4 LARS2 RMRP ATP6V1E1 TANGO2 DPP6 BRAF MT-ND3 CAV1 CPT2 TGFBR2 NR2F2 NAA10 RPL35A ABCC6 MT-CO2 AGXT NDUFAF3 RPL31 RIT1 RPL15 ACTN2 KCNJ18 ACAD9 CAVIN1 GNAQ MT-ND2 MECP2 MAX HADHB SGO1 DSP RPL27 KIF1B SLC25A4 TGFB3 SMAD3 MTO1 KCNJ8 SCNN1B CRELD1 CBL PRDM16 GLUL RPS24 VHL PGM1 GATA1 GATA5 SDHAF2 NDUFB8 DTNA GDAP1 PPP1CB A2ML1 SALL4 MT-TF ATRX TOP3A SURF1 HADHA COX7B WIPI2 CLCF1 TMEM127 TDP2 CTNNA3 RPS26 GJA5 HSPG2 NPPA PEX26 HFE FBLN5 RPL26 RPS29 KCNA5 APOB GDNF TTN ECE1 MT-TE FH TSC2 NOS1AP PEX6 TBX3 PEX3 CYP17A1 RPS10 EYA4 USP18 SCN3B HTRA2 CIZ1 TBX5 JUP CALM2 RANGRF MT-TV KCNJ11 TAZ ACADL TWNK ABCC8 IKZF1 PEX13 SCN9A NRAS NUP155 EPAS1 SPECC1L SLC2A10 PTPN22 KYNU MYL3 BAZ1B FLAD1 PCSK9 ABCA12 CSF2RA ISCU ASXL1 CDC73 NDUFB11 PEX2 APRT TGFBR1 HLA-DPA1 ANK2 DSG2 TLL1 CNBP TSHR SLC12A3 FMO3 VPS33A CRLF1 DYSF RPS15A GBA GTF2I IFNG LIPT1 TET2 AKAP10 MEN1 RASA2 KCNE5 CLCNKB BRAT1 LDLRAP1 RPL18 UQCRFS1 TPM2 SOX10 COL4A1 TSR2 HNF4A TPM3 KRAS BTNL2 DNAJC19 TNNI3K ABCG5 GYG1 GMPPB CASR ADA2 LZTR1 SRSF2 FBXL4 SLC40A1 ATP6V1A PEX10 TBL2 HMBS ACTA1 PEX14 RPL35 MTFMT KIF20A FXN HLA-DRB1 PSAP POMT2 TNXB CDH23 RPS19 RRAS PHOX2B ZMPSTE24 CYP11B1 NEXN GABRA3 HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS SNX14 KMT2D ROBO4 POLR1A FGFR3 LIMK1 GJA5 TSC2 NEK9 AMMECR1 KCNAB2 ARHGAP31 WDPCP FBN2 FANCL FBN1 AFF4 ARID1B TSFM DDX59 RRAS2 ELN ACTA2 FOXH1 MLX BRIP1 DDX11 KRAS GATA6 MYLK MED25 MFAP5 MYRF TTC37 NSD1 MMP14 CHD7 COX7B TBX1 SALL4 BGN KANSL1 PRKG1 BPTF AEBP1 NCAPG2 DGCR8 TELO2 COL3A1 ROR2 WDR26 POLR1D FADD MYH11 COL1A1 IGF2 GATA4 CACNA1C HIBCH SLC35A2 CEP57 PTCH1 MRPS16 SEMA3E MGP VPS33A CEP120 ESS2 IFT43 KCNH1 DOCK6 MRAS SLX4 CALM3 FLI1 CTCF SIX3 WRN GAS1 CHRNG BCOR C2CD3 PLAGL1 PRDM6 TREX1 NRAS SOX2 MEGF8 CYP7A1 ABCG8 MCTP2 NFIX BUB3 COQ4 AGGF1 PIGN NOD2 ARVCF DLL4 FANCA FOXC2 RERE DGCR6 TGIF1 MAPK1 MASP1 CTU2 FGFR1 BRF1 SKI RAI1 RAB23 TNFSF11 FOXF1 RBPJ XRCC2 WNT4 B3GLCT NKX2-5 EXT2 KAT6A CLCN7 HYMAI ZFPM2 TBX2 RNASEH2B GBA FGF8 CRTAP UBE2T LTBP4 LMNA PEX1 GTF2IRD1 UFD1 ARX SOS2 FANCB TDGF1 GATA5 MED12 MYH3 RBM10 EFEMP2 PORCN COL18A1 FANCM RFC2 ERCC4 PSMD12 FLNB LDLR ADAMTS10 GPC4 GANAB ZMPSTE24 CCNQ SMAD3 FOXC1 DHCR24 C12orf57 EP300 DIS3L2 LFNG MMP2 CLIP2 ALX3 COMT LRRC56 FKTN MYCN SKIV2L JMJD1C RPL5 PCGF2 PKD2 NOTCH1 MED13L HIRA ADAR BCR BRCA2 TGFBR2 STXBP1 IFIH1 SRY TGFBR1 RAC1 CREBBP TMEM94 POLR1C NR2F2 TRRAP PKD1 COL1A2 CITED2 BRCA1 CHRM3 BUB1B SOS1 MYH7 WDR35 DNAH1 DPM1 ZEB2 EHMT1 PTPN11 MKS1 B3GAT3 TAB2 MAD2L2 SIX6 SLC25A24 FKBP14 PPP2R1A COL5A1 KDM6A LARS2 PACS1 NODAL GJA8 TALDO1 RAF1 SMAD6 RNASEH2C DGCR2 STRA6 NAA10 BUB1 ERMARD RPS26 PIGT ASCC1 PKD1L1 RPL10 COL5A2 LEMD3 ABL1 RIT1 JAG1 TFAP2B UMPS USP9X INTU HDAC4 SPECC1L SEC24C CCDC22 FN1 COL2A1 ALX1 FLT4 GJA1 FTO DLL1 GDF1 ALG8 FGFR2 SON PALB2 GPC3 MEIS2 THOC6 BMPR2 AMER1 CRELD1 ABCC9 RIPPLY2 LIFR FANCE SHANK3 DHCR7 GPC6 TRIP4 PHGDH ACSL4 NOTCH2 G6PC3 KAT6B STAG2 PEX19 DTNA PPP1CB RBM8A RFWD3 A2ML1 TGFBR3 HES7 TGFB3 POLA1 TGFB2 SRCAP SMG9 PIGL CDON APOE TBX5 RNU4ATAC SAMD9 PTEN ZIC3 GLI3 SALL1 CHD4 PRDM16 FBLN5 MYPN APOB RREB1 ZNF148 ECE1 ARFGEF2 UBE3B FANCF SAMHD1 YY1AP1 BMP2 NPHP3 PAH TRIP13 WASHC5 MESP2 MKKS CYP17A1 EOGT RSPRY1 TMCO1 ALG12 FIG4 ACTB USP18 ZIC2 HGD RSPO2 NXN NID1 FOXE3 NKAP FANCG FLNA LOX SMAD4 SLC2A10 TMTC3 ANK1 MLXIPL TRIP11 LZTR1 ALDH18A1 EED HLA-B FANCI TRAF7 APC2 FANCD2 TBX20 MMP21 DISP1 TCIRG1 RPS15A UBE2A SSR4 DVL3 PTPN22 ACVR2B BCL11B BAZ1B NSMCE2 PCSK9 SNX10 CBL PTH1R NDUFB11 DYNC2LI1 NEK8 TBX4 TP63 GP1BB CFC1 NEDD4L NONO THSD1 NKX2-6 MAF RAD51 DACT1 CHST3 HPGD BICC1 PCNT ADAT3 CDK8 GTF2I LMX1B MAP2K1 ANKS6 SMC3 KYNU PIK3R2 RASA2 KCNE5 RBP4 ESCO2 IGBP1 IL12B CRKL SHH LDLRAP1 BRAF SF3B4 UQCRFS1 BMPR1A TPM2 HRAS CDC42 TCOF1 FMR1 DNMT3A TMEM260 RIN2 RAD51C PQBP1 PUF60 TPM3 KCNJ8 ABCG5 GLI2 TBC1D24 DLL3 CD96 ABCD4 EIF2AK4 MAP3K7 TRAIP PLOD1 TKT POR ENG FANCC TSC1 ARL6IP6 TBL2 TGDS SIK3 HCCS ARF1 CXCR4 WT1 GABRD ADK VAC14 RNASEH2A ANGPTL6 NOTCH3 SUFU RRAS MAT2A CYP11B1 RPL11 SNRPB SETD2 RPS19 MAP1B CFAP53 HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE PLIN1 SMARCAL1 DNAJC13 GDF2 LIMK1 SDCCAG8 KCNJ1 VHL ELP1 TSC2 FMR1 PSAP CPOX GBA ARHGAP31 GNAS MT-CO1 SH2B3 LYZ CLCN2 NF1 NOTCH3 ARL6 EDA2R ELN APOA1 CTLA4 CC2D2A MLX FGFR2 TJP2 GBE1 GPR35 ADA2 MT-TC CYP11B2 MMP14 HSD3B2 DBH GNA11 MTRR BANF1 SAA1 GLA REN DHPS MT-TK MT-TL1 CCR6 GPC3 ERCC8 TRIM32 CFH ACVRL1 COL3A1 GIGYF2 LRP6 TCF4 RUNX1 XYLT2 ALB CFI COQ2 CALR ITGA8 SLC37A4 MRAP CLCNKB SUGCT B2M DOCK6 SNCA CD46 ECE1 WT1 WRN CLDN1 KLHL3 BBS4 THPO SDHA POU6F2 ABCG8 TBX19 DAXX CORIN NFIX PDE8B RPGRIP1L NOD2 ARVCF DLL4 SLC25A20 INVS NFKB2 PRKAR1A RET MST1 AGTR1 SOX3 ADD1 AGT RBPJ F5 SLC25A11 ARSA SCNN1A TRIM28 MT-TQ OFD1 TNFRSF11B ARMC5 HLA-DPB1 PPARG EDA TP53 CHCHD2 CYP3A5 BNC2 ALX4 LMX1B NPHP1 ACAT1 ACTA2 GTF2IRD1 SDHC UFD1 ENPP1 DDC GATA5 LEMD3 MYH11 HGD STAR SDHD SPIB RFC2 IRF5 KCNJ5 LDLR ERCC6 DLST REST CAV1 GANAB LRRK2 BBS10 SMAD3 TET2 MT-TW STN1 MUC1 POU3F4 DGUOK SDHB ERCC4 BBS9 CD2AP LMNA CYP11B1 MEF2A MMP2 CLIP2 COL4A3 COMT HPSE2 BBS2 XYLT1 PRKACA JMJD1C GLIS3 SMAD4 VANGL1 G6PC DCDC2 WNK4 DIS3L2 HESX1 TMEM70 HBB MAFB LZTFL1 MT-TS2 PKD2 USP8 NOTCH1 HIRA LEP TRIP13 DNAJB11 FBN1 GNB3 TGFBR1 CFHR1 PKD1 ITCH ATP7A MEN1 SCN2B RYR1 PRTN3 NR3C2 WDR35 MDH2 GSN DNMT3A LEPR ALMS1 JAK2 LMNB1 HMGCL IQCB1 MKKS YY1AP1 IL12RB1 LARS2 LHX4 NTRK1 AIP SLC12A1 TBX1 TGFBR2 SPRY2 ABCB6 MMEL1 MTTP MYLK ABCC6 TRAF3IP1 COL5A2 STOX1 H19 FGA TMEM67 FTL SEC24C MAX EIF4G1 MT-ND6 KIF1B ACTN4 HSD11B2 DYRK1B PRKAG2 BMPR2 POU1F1 PDE3A MT-ND1 TTC8 CBL MGP NOTCH2 SDHAF2 MYMK NPHP3 SIM1 PIGM TGFBR3 ATRX KCNMB1 SMAD6 TRPC6 CCDC28B TMEM127 PROP1 TNFRSF11A SCNN1B ACE BBS5 NEUROG3 APOB GDNF RREB1 TMEM237 MT-TE FH TGFB2 MT-CO3 GPR101 CYP17A1 BRCA2 CYB561 THBD WNK1 LRIG2 FIG4 CEP290 HLA-DRB1 XPNPEP3 CCND1 FARSB MKS1 FUZ MT-CYB MT-TV SLC2A10 CYP11A1 PRKG1 COQ7 MLXIPL FLT1 SERPINA6 SP110 CFB AVPR2 HLA-B NKX2-5 EGFR MC4R EPAS1 PTGIS CDH23 KYNU GCH1 BAZ1B NSMCE2 PCSK9 KRT8 VPS35 ASXL1 SERPING1 TNPO3 TXNRD2 WDPCP APRT HLA-DPA1 MPL SHPK COL4A5 KCTD1 GP1BB THSD1 BBS12 SLC12A3 FMO3 CYP21A2 CUL3 NPHP4 NOS3 PKHD1 BICC1 COL4A4 BSCL2 NR3C1 TTR INPP5E C3 MT-CO2 MT-TF IFT27 GTF2I STAT1 PAM16 MFAP5 MC2R PDE4D LOX IL12B SLC30A10 LDLRAP1 MYH7 BBS7 POU2AF1 TGFB3 CBS AAAS CEP164 ADAMTSL4 NNT COL5A1 BTNL2 GLI2 CACNA1D HEXB PTPN22 ABCG5 FOXA2 FN1 BBS1 IL12A CASR SRSF2 PHF21A CACNA1H DCTN1 POR MT-ND5 ENG PDE11A EXT2 COL1A1 GUCY1A1 EOGT TSC1 TBL2 HMBS C8orf37 FOXF1 CEP19 KRT18 HELLPAR VAC14 GJA1 GMPPA SCNN1G BBIP1 OTX2 ANGPTL6 MAT2A IDUA IFT172 WDR19 ZMPSTE24 TNFSF15 FOXE3 CCN2 NFU1 CFHR3 OSGEP HP_SCLEROSING_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSING_CHOLANGITIS RFXAP DCDC2 RFXANK CIITA RFX5 CD40LG HP_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOSIS MMP2 PTDSS1 TNFRSF11B GNAI3 GNAS PERP MBTPS2 MUSK LMNA FGFR2 GDF5 TRPV3 ENPP1 NONO FGFR1 ZMPSTE24 ADGRG6 PQBP1 PLCB4 WNT7A NOG HP_BONE_MARROW_HYPERCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPERCELLULARITY JAK2 SLC7A7 ZBTB16 STAT3 RPS14 CALR MPL FIP1L1 STAT5B PRKAR1A FAS FASLG CXCR4 TBL1XR1 CASP10 NPM1 PRKCD NUMA1 NABP1 BCOR RASGRP1 RARA SRC TET2 PML IRF2BP2 HP_CHRONIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_INFECTION TBL1XR1 PLEKHM1 CARD9 BCHE NPM1 SF3B1 ZBTB16 NUMA1 STAT3 RPS14 NABP1 BCOR RARA CLCN7 FIP1L1 TCIRG1 STAT5B PRKAR1A TET2 PML IRF2BP2 HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING CCL2 PDGFRB CLCN4 FMR1 PSAP ATXN10 TRPV4 SLC1A4 GBA2 CHMP2B PDGFB FTSJ1 DNM2 UPF3B SACS WASHC5 RAB39B HCFC1 ARHGEF6 ARSA PIK3CA HLA-DRB1 CACNA1H MYF6 SPG11 SLC9A6 CXorf56 RREB1 AUH ALDH18A1 SBF1 ADNP ARX MORC2 AKT1 SPAST ABCD1 HLA-DQB1 COQ2 LRIG2 IL1RAPL1 ATRX CACNA1G PDCD1 FUZ B2M STUB1 GABRG2 IFT57 HTRA1 SALL1 KIF5A TIMM50 MNX1 CNKSR2 ARVCF RPS6KA3 MID2 TP63 DSTYK RTN2 MAPK1 BIN1 FA2H IGHMBP2 DDHD2 CAPN1 TSPAN7 HS6ST2 CYP7B1 ATL1 MECP2 TRAF7 TBP SCN9A BNC2 ATXN8OS SUFU NEXMIF FARS2 GP1BB UFD1 SLC12A3 NF2 CPT1C HACE1 TYROBP PTCHD1 ACSL4 PANK2 SLC16A2 BAP1 DACT1 AP5Z1 TERT SMO TTR GJC2 USP27X PRDM8 ATP13A2 HSPD1 CLCNKB CRKL COMT HPSE2 SCN4A COL2A1 COG5 GABRA1 VCP PEX11B DNMT1 VANGL1 ZFYVE26 JMJD1C RETREG1 SQSTM1 NOP56 ALG13 SPG7 AGTR2 HIRA BCR IQSEC2 DKK1 ACSF3 PAK3 SMARCB1 HEXB VANGL2 JRK TBX1 GABRB3 C19orf12 ZNF41 RYR1 FRMPD4 GALC ZNF711 MTMR14 DLG3 SYP TRIO SLC20A2 HMBS PLP1 KCNC3 GDI1 DMD SLC9A7 TBCD CFAP43 NOTCH3 TBXT NIPA1 KCND3 SEC24C SMARCE1 FLVCR1 USP9X SLC2A1 ALS2 GBE1 ISL1 MED12 ZNF81 HP_ABNORMAL_OVARIAN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_MORPHOLOGY PLIN1 SOX9 PIK3CA LIMK1 RFC2 INSR KLLN F7 HNF1A FGFR1 ESR1 MSX1 WT1 FSHR PTEN IFT27 STK11 GTF2I BBS10 SDCCAG8 NR0B1 KISS1 TAC3 MAP3K1 OFD1 PPARG ELN PROKR2 SRY ZFPM2 BBS9 WWOX MMP2 CLIP2 SETD2 NTHL1 POR BBS2 ATM VAMP7 SPRY4 DMRT1 TACR3 TP63 BBS7 FGF17 MMP14 HSD3B2 BBS5 SPIDR DHX37 POLR3H GNAS SOX3 LZTFL1 AKT2 NR5A1 AKT1 MCM8 LEP MSH3 PROK2 PAX6 TRIM32 LMNA LIPE SEC23B LHB CYP17A1 DUSP6 DHH BBS1 SETBP1 CYP19A1 CBX2 BMP15 BSCL2 MT-CYB MKS1 LEPR LMNB2 ALMS1 CIDEC CHD7 ANTXR2 MKKS GNRHR FLT1 TBL2 WDR11 SDHB BBS4 C8orf37 PRKAR1A NPHP1 CORIN ANOS1 PRLR CAV1 BNC1 DMRT3 AGPAT2 USF3 ARL6 PTPN11 STOX1 SDHC BBIP1 PSMC3IP BAZ1B GNRH1 FOS CYB5A FGF8 NSMF GATA4 WDPCP IFT172 DCAF17 MRPS22 CYP11B1 PMM2 HS6ST1 GTF2IRD1 BBS12 KISS1R CAVIN1 NUP107 CEP290 SDHD TTC8 HP_ABNORMAL_OVARIAN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_PHYSIOLOGY GALT NPHP4 NOBOX BMP15 POLG FMR1 SDCCAG8 EIF2B3 CHD7 EIF2B4 NR5A1 FGFR1 B4GALNT1 IQCB1 DIAPH2 FSHR NPHP3 FSHB GNRHR STAG3 FASLG WDR11 KISS1 TAC3 FOXL2 EIF2B1 TWNK PROKR2 ANOS1 PRLR CASP10 FAS AARS2 BNC1 POF1B LARS2 RASGRP1 INVS SPRY4 AIRE TRAF3IP1 TACR3 CDH23 ATM AIP FGF17 SPIDR POLR3H PSMC3IP MCM3AP EIF2B5 NBN TTI2 GNRH1 RIN2 CEP164 MCM8 BMP4 FIGLA EIF2B2 PROK2 ERAL1 FGF8 NSMF DCAF17 WDR19 MRPS22 HFM1 RCBTB1 PRKCD NPHP1 PMM2 LMNA HS6ST1 KISS1R DUSP6 NUP107 THOC6 MEN1 USP8 CEP290 HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY SP110 STAR MRAP GH1 RBM28 MC2R TXNRD2 NNT HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST STAR MRAP GH1 MC2R NNT TXNRD2 HP_DECREASED_PREALBUMIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PREALBUMIN_LEVEL HLA-DQA1 FOXP3 HLA-DQB1 NOS1 CRLF1 HP_ABNORMAL_HUMERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HUMERUS_MORPHOLOGY ATP7A RSPO2 SLC26A2 FLNB RNU4ATAC GNPTAB HP_ABNORMAL_UTERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UTERUS_MORPHOLOGY FANCE PIK3CA MLH1 FANCM PHGDH ERCC4 PTPRJ KLLN POLD1 NAB2 FH DCC FANCL IFT80 STK11 RFWD3 CCNQ BMPR1A FLI1 PTEN MCC SETBP1 EP300 FGFR3 HYLS1 DHCR7 AXIN1 ESCO2 BRIP1 CDC73 NTHL1 AURKA MSH6 GATA3 HNF4A SALL1 CDKN1B DLC1 SF3B4 INHBA WDR35 STAT6 POLE MLH3 AKT1 DMPK DACT1 RAD51C MSH2 MSH3 BRCA2 FLCN FRAS1 HOXA13 SRY FANCF HNF1B CREBBP GRIP1 SEC23B WDR34 SPECC1L BRCA1 ALG9 PTPN12 ITGA8 CDH1 PLA2G2A FANCG TP53 BUB1B LRP2 SMAD3 MAD2L2 SLX4 GREM1 FANCC PMS2 WDR60 RAD54B COL3A1 FREM2 SDHB SLC6A17 PRKAR1A DYNC2H1 FANCI MNX1 PIGN CXCR4 TGFBR2 FANCD2 STRA6 CTNNB1 BUB1 FANCA RPS20 PDGFRL USF3 AXIN2 TNXB SEMA4A NRAS SDHC INTU XRCC2 TLR2 NDP CCND1 UBE2T ODC1 TGFBR1 RARB BAX THOC6 SRC APC PALB2 FANCB RPS6KA3 SDHD RAD51 HP_TRICEPS_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICEPS_WEAKNESS CHRNE CHRND AK9 POMT1 SCN4A RAPSN ADSS1 DOK7 COL13A1 DYSF CHRNA1 FBXO38 MFN2 LRP4 AGRN MUSK CHRNB1 MYH7 HP_RECURRENT_GASTROENTERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GASTROENTERITIS SP110 VPS33A DCLRE1C ADAT3 CD3E MAN2B1 FOXP3 CD3G HP_THINNING_OF_DESCEMET_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THINNING_OF_DESCEMET_MEMBRANE PITX2 OVOL2 PAX6 CYP1B1 FOXC1 FOXE3 HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE NGLY1 PLAA BRAF TAF1 PMP22 HP_MULTIFOCAL_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_SEIZURES BRAT1 CARS2 TANGO2 SLC13A5 TBCK CDKL5 HP_NUCHAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCHAL_RIGIDITY IRF3 TLR3 TBK1 TRAF3 TICAM1 UNC93B1 HP_PRODUCTIVE_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRODUCTIVE_COUGH CFTR TBL1XR1 NPM1 SCNN1B ZBTB16 NUMA1 STAT3 SCNN1G NABP1 BCOR RARA FIP1L1 STAT5B SCNN1A PRKAR1A PML IRF2BP2 HP_DELIRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELIRIUM FIG4 DNMT1 SLC25A13 PRDX1 NAGS MT-TE MMACHC HP_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOCK TRDN SCNN1A SCNN1G NAA10 DAXX SCNN1B ATRX HP_FLUSHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUSHING EPAS1 MDH2 RET ADGRE2 SDHD DNMT3A HPGD SLC25A11 DLST SDHB SDHAF2 VHL MAOA ALDH2 NF1 SDHA SDHC FH HNF4A MAX KIF1B TMEM127 SCN9A HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY MBTPS2 HLA-DRA KRT86 KRT83 KRT81 LRP1 HP_CUTANEOUS_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ABSCESS CTSC IL10RB PSENEN PSEN1 MNX1 BTK PGM3 IL17RA UBE2A IL10RA LYST HP_LEFT_ATRIAL_ENLARGEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ATRIAL_ENLARGEMENT FLNC GYS1 SCN1B KIF20A TNNI3 MYPN MYL3 TNNT2 SCN5A HP_INTERSTITIAL_CARDIAC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_CARDIAC_FIBROSIS FLNC KIF20A TNNI3 MYPN TNNT2 HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY GYG1 RYR1 ACTN2 DSP CACNA1S HP_VEGETATIVE_STATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VEGETATIVE_STATE PSAP EPM2A ARSA ISCA2 NHLRC1 HP_ECCHYMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECCHYMOSIS GP1BA GFI1B F13A1 PRF1 JAK2 ZBTB16 STAT3 SBDS CALR P2RY12 MPL ITGA2B ITGB3 CHST14 USP8 F2 FIP1L1 CD109 STAT5B PRKAR1A F13B GGCX TBL1XR1 GP1BB GP6 AIP NPM1 TERT TERC NUMA1 NABP1 BCOR RARA IFNG TBXA2R TET2 PML IRF2BP2 ITGA2 HP_MACULAR_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_PURPURA ETHE1 JAK2 ZBTB16 SBDS WIPF1 GP1BA ITGA2B ITGB3 CHST14 COL1A1 F2 OCLN FCGR2C STAT5B PRKAR1A WAS GP1BB TREX1 AIP TERT TERC NUMA1 NABP1 RARA IFNG ETV6 CLCN7 HOXA11 SAMD9 PML GFI1B COL5A2 F13A1 GP9 GNA14 FERMT3 RAB27A PRF1 STAT3 CALR P2RY12 MPL USP8 FIP1L1 CD109 GBA PEPD GATA1 F13B COL5A1 GGCX TBL1XR1 GP6 NPM1 APOE BCOR TBXA2R USP18 TET2 IRF2BP2 ITGA2 HP_METAPHYSEAL_STRIATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_STRIATIONS ADA PORCN AMER1 WDR26 TONSL MTAP HP_ANKLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_WEAKNESS CHRNE CHRND AK9 SCN4A RAPSN DOK7 MATR3 COL13A1 CHRNA1 LRP4 AGRN TTN MUSK CHRNB1 LDB3 BSCL2 HP_ABNORMAL_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_PROLIFERATION RAG1 IL7R RFXAP CD3E RFXANK JAK3 CD3D PGM3 RFX5 EXTL3 CTPS1 ZAP70 IL2RG RAG2 RASGRP1 CIITA CD247 WIPF1 HP_ABNORMAL_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_PROLIFERATION RAG1 RAG2 CD3E RASGRP1 PGM3 WIPF1 CTPS1 HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN RAG1 IL7R RFXAP CD3E RFXANK JAK3 CD3D RFX5 EXTL3 ZAP70 IL2RG RAG2 RASGRP1 CIITA CD247 HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS MAGT1 ATM IL7R RFXAP EPG5 MYC RFXANK LCK CASP10 LEPR PGM3 RFX5 EXTL3 FAS PRKCD IL2RG RASGRP1 LEP CIITA FASLG HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS IL7R CASP10 PGM3 EXTL3 FAS PRKCD ZAP70 RASGRP1 IL2RG CD8A WIPF1 FASLG CD3G HP_ABNORMAL_CD4_CD8_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CD4_CD8_RATIO RFXAP RFXANK RASGRP1 CIITA PGM3 RFX5 HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL CASP10 RASGRP1 FAS FOXP3 FASLG PRKCD HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE RAG1 WAS PIK3CD CASP10 PGM3 FAS PRKCD PMM2 RAG2 RASGRP1 ADA FASLG HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY MYSM1 DOCK8 SMARCAL1 RNU4ATAC MPLKIP NHEJ1 BLNK BACH2 PIK3R1 CD81 MVK IKBKB CD79A STAT3 TNFRSF13C CD19 AICDA GPC3 ALB IRF2BP2 KRT1 CASP10 SLC39A4 RIPK1 MOGS SFTPC IGHM CD79B GPR35 ZAP70 GTF2H5 IGLL1 ADA2 TTC37 ATM LRRC8A TRNT1 CLCA4 BTK SCARB2 RAG1 HYOU1 LAT TERT TNFRSF11A TYK2 LRBA ELANE NFE2L2 IL4R DCTN4 RREB1 CD40LG MYD88 DGCR8 IKBKG PSTPIP1 KRT9 TNFRSF13B CFTR TCF4 DCLRE1C CTLA4 ALG12 JAK3 KRT18 GTF2E2 TBX1 GBA TCN2 IL21 RNF113A ICOS NRAS SH3KBP1 TONSL MTOR BLM RFXAP MSN ESS2 CARD9 BSCL2 CTPS1 GPC4 HELLS MAN2B1 RASGRP1 FASLG SP110 POMP LAMTOR2 FAS CD40 ARVCF NFKB2 RAG2 PSMB8 TFRC TP53 DGCR6 MST1 MS4A1 SPINK5 MTHFD1 CARMIL2 PLCG2 XIAP DNMT3B UNG EXTL3 PLA2G7 TCF3 ATP6AP1 FOS AK2 IL2RG SAMD9L TNPO3 CXCR4 PNP UNC13D ERCC2 SLC46A1 AGPAT2 VPS45 GP1BB SLC25A13 CNBP PMM2 TGFB1 UFD1 PPARG CAVIN1 ADA VPS33A RFXANK SFTPA2 SPIB CD3D PSMB9 NFKB1 CD247 KRT8 WAS EPG5 ZBTB24 PIGT IKZF1 CD3E PTEN NLRP1 B2M IFNGR1 COG6 COMT CIITA HLA-DRB1 RNF168 SKIV2L CDCA7 JMJD1C STXBP2 POU2AF1 ERCC3 BCL10 MUC5B RFX5 UMPS HIRA LEP ADAMTS3 LMNA CCND1 SH2D1A KLHDC8B CARD11 PGM3 IL12A CD28 STX1A CISD2 IL7R CR2 TARS1 LEPR IL2RB PLVAP STING1 FOXP3 RTEL1 IL12RB1 RMRP CSNK2A1 PIK3CD RBM8A CAV1 DGCR2 CD70 IL6ST CCBE1 SETX MMEL1 PSMB4 GATA3 TNFSF12 CDSN MAGT1 ITK IRF5 IGKC RAB27A IL2RA SLC7A7 TIMM8A NBN SEC24C CD27 CASP8 CD55 WIPF1 COL1A1 MS4A2 LIG4 IFIH1 PRKCD TNFSF15 FLNA SON FAT4 TNFRSF1B KRAS HP_ABNORMAL_NASAL_MUCUS_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MUCUS_SECRETION DNAH1 CCDC114 SDHD LRRC56 SCN9A HP_INCREASED_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_MASS_INDEX STOX1 THRA THOC2 CORIN FLT1 HP_ABNORMAL_SPEECH_PROSODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPEECH_PROSODY MAPT DNAJC13 SNCA MT-TV MT-ND4 GBA VPS35 FBXO7 LRRK2 EIF4G1 MT-TL1 MT-ATP6 MT-ND1 FOXP2 MT-ND3 GIGYF2 MT-TK GRIN2A MT-TW CWF19L1 MT-ND5 MT-ND6 SRPX2 MT-ND2 HP_MONOTONIC_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOTONIC_SPEECH CWF19L1 GBA VPS35 DNAJC13 FBXO7 GIGYF2 SNCA LRRK2 EIF4G1 HP_PREGNANCY_EXPOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREGNANCY_EXPOSURE MME MSX1 NECTIN1 SERPINC1 TP63 IRF6 HP_PULMONARY_OPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_OPACITY SFTPC ABCA3 FAM13A STN1 DSP RTEL1 TERT ATP11A BMPR2 TERC PARN SFTPB DPP9 MUC5B SFTPA1 SFTPA2 HP_SOFT_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_NEOPLASM STAT6 NAB2 APC COL4A5 PDGFRB NOTCH3 HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING PPM1D PDGFRB PFN1 NDUFS1 DNAJC13 LIMK1 LIPT1 HTT CHD2 LMAN2L CLN6 ELP1 TSC2 EIF2B4 FMR1 PSAP FGFR1 CPOX TOMM40 GBA SLC13A5 GNAS SURF1 TREM2 DRD2 EPCAM NF1 NOTCH3 KISS1 ELN NDUFS8 CNKSR2 GABRG2 SLC6A19 CLRN1 SCN1A PON1 AARS2 PINK1 SLC1A2 TBP ECHS1 CLTC NDUFS7 ATRX RRM2B ADSL MAPT GPR35 UCHL1 PSEN1 ADGRV1 SPRY4 PPARGC1A TACR3 SCN8A FGF17 GNA11 TBX1 C19orf12 SYNJ1 COMT SNCA CP GLA HLA-DRB1 CHMP2B DYRK1A WWOX KCTD17 MT-ND4 PDGFB CHRNA7 MLH3 TRAK1 MSH2 KANSL1 PET100 BPTF NR4A2 NDUFAF2 VPS13A PHGDH USH2A ATP1A3 GIGYF2 PRNP TCF4 USH1C MT-TQ DNMT1 RUNX1 AKT1 HLA-DQB1 SPECC1L GABRA2 NEK1 KMT2A ZC3H14 CLIP1 RAI1 PSEN2 CACNA1G COQ2 TOR1A POLG GATAD2B OPTN HDAC8 PRRT2 STUB1 FLI1 MECP2 MAN2B1 NFIX CACNA1B C9orf72 UNC13A GNRHR MT-CO3 WDR11 SARDH GRN SDHA AFF2 KCNT1 FTL YWHAG NTNG2 RAD21 ARVCF FBXO31 VPS13C MED25 BCS1L ARSA SQSTM1 SLC6A4 MST1 MAPK1 CUX2 MTPAP MBOAT7 NDUFV1 TRAPPC9 IQSEC2 HNRNPH2 SLC25A11 FOXRED1 ERBB4 TAF1 UBQLN2 GALC WFS1 MED23 SLC18A2 IL1RAPL1 ARMC5 OCRL TP53 ATXN8OS SUFU SCN1B CLN3 EEF1A2 KCNB1 SMC1A USH1G HS6ST1 GTF2IRD1 SDHC LARP7 KPTN UFD1 TWNK MT-TH NAGS DDC NF2 ACSL4 MED12 SLC19A3 CCNF CACNA1A SGCE TARDBP SDHD RET RFC2 PLA2G6 PSMD12 TTC19 SMO DLST XPR1 SLC9A6 PDE10A SNCAIP LRRK2 PRKCG DCTN1 FOXP1 EP300 NDUFA12 BAP1 PROKR2 SDHB DEAF1 CLIP2 NECAP1 GABRA1 SZT2 XK TBC1D7 PRKACA JMJD1C NEFH TCF20 VANGL1 SOD1 AARS1 TP63 FRRS1L MT-TL2 WDR62 UBA5 SOX5 PRSS12 USP8 KDM5B DMPK CEP78 HIRA PPOX CDKL5 BCR VCP RNF125 EPM2A DNAJC5 MT-CO1 PGAP1 STAG2 MSH6 PMS1 CREBBP MAN1B1 MT-ND5 PRKAR1A RSRC1 ASH1L PARS2 DUSP6 HBB ST3GAL3 IQSEC1 CISD2 MDH2 GSN MT-ND6 EHMT1 PCDH19 DNMT3A KCNA2 GABRD LEPR ALMS1 LMNB1 COX15 CHD7 APP STX16 SPART CFAP410 NDUFA10 SCN9A EIF2B1 NTRK1 AIP PER3 SETD5 TK2 MTFMT TUSC3 FA2H RPS20 USP7 AIMP1 FGF14 NDUFA2 SATB2 MT-CO2 FGF12 DHDDS DNA2 CLCN4 EDC3 SCN2A NDUFA4 SLC35C1 CRBN GDAP2 SEC24C PAH HIVEP2 IGF1R MAGEL2 FLT4 EPHA4 TMEM106B FGF8 EIF4G1 NSMF BCL11B HCN1 SLC2A1 NDUFA9 AMACR SLC25A4 MT-TL1 SYNGAP1 KISS1R DNM1 CBL MSX1 KMT2E ADCY5 ATP13A2 NDUFAF6 EIF2B3 PTCHD1 CHCHD10 SCN3A DAO ATXN10 SDHAF2 ADH1C VHL CRADD PMS2 ACTL6B MT-TF PON2 LINS1 SLC39A4 NDUFA13 ATP6V1A SETD2 NIPBL GLI3 FUS AP2S1 HNRNPA1 B4GALNT1 MSTO1 HSPG2 TBCK PIK3CA CACNA1H MT-ND1 RREB1 PROK2 MYO7A LAS1L SLC45A1 FH JPH3 ADNP NTRK2 NECTIN1 PODXL GLE1 GPR101 SPAST MATR3 TMCO1 PON3 WHRN SMC3 GCSH PGK1 CIZ1 COASY PDCD1 FUZ YY1 DCPS NFASC UBE3A PDZD7 PPT1 MLXIPL GLT8D1 TGFBR2 NDUFAF5 SMPD1 PIGC KCNJ2 ANOS1 HTR2A AP2M1 ABCA7 SARS1 AFG3L2 SPG21 ANXA11 COX10 EPAS1 GLDC PTPN22 RPS6KA3 SEMA4A PARK7 CC2D1A POLG2 GCH1 DGUOK HTRA2 TMEM240 BAZ1B MT-TS2 WAC CYFIP2 EIF2B5 TAF15 NDP VPS35 ASXL1 EIF2B2 ATXN2 TRAF7 C12orf4 CDH23 TLK2 PCDH15 AP3B2 GP1BB UBTF PANK2 NONO EZR PSAT1 HARS1 STXBP1 FAN1 FMO3 TYROBP NUS1 NSUN2 ARSG TNIK TACO1 PER2 MBD5 TET3 CEP152 NR3C1 TERT GRIN2D CSF1R ADAT3 GRIK2 GTF2I SORL1 BMPR1A TET2 SLC6A1 TBK1 TAC3 MT-TN FMN2 MEN1 NDUFV2 ATP7B ALDH5A1 KIF15 SRPX2 THOC2 CRKL GRIN2A PTS PRKAR1B RNF168 FIG4 NHLRC1 ARV1 PRPH RLIM PQBP1 SMARCB1 CTSF MT-TW JRK GABRB3 PDHA1 TMEM127 CASR MLH1 DPH1 PRKN FLII SRSF2 CYP27A1 KRAS B3GALNT2 NDST1 PPP3CA NDUFS3 NDUFS2 NKX2-1 NDUFS4 GABRB2 HNMT ANG TSC1 VAPB SLC20A2 PAK3 METTL23 WASHC4 STX1B TBL2 CIB2 HMBS IRF6 SLC6A17 PPP2R2B ATP2A2 PHIP MAX KIF1B ESPN KNL1 PDE11A CBS GNRH1 GABRA5 SMARCE1 MAOA TECR IDUA MAPK10 GM2A NFIB AMT ARID2 GLUD2 DNAJC6 HP_LOW_SELF_ESTEEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SELF_ESTEEM CACNA1H GABRB3 GABRG2 SLC2A1 MSX1 GABRA1 NECTIN1 TP63 JRK IRF6 HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS SCN9A GABRA1 PCDH19 STXBP1 SCN1B GABRD SCN1A HCN1 SCN2A GABRG2 ADGRV1 STX1B HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY VPS33A NOTCH2 IL12A PRDM16 LIMK1 RFC2 HAAO LDLR G6PC3 ADAMTS10 NDUFB8 FBN2 FBN1 DTNA PPP1CB GTF2I HEPHL1 ABCC6 TGFB3 MEFV ELN PIK3R2 IL12A-AS1 ANKRD11 GNPTAB SURF1 HADHA IL10 GATA6 COX7B CHST3 CLIP2 IRX5 XYLT1 B3GALT6 DSE LDLRAP1 CBL FLNC STAT4 CLIC2 LTBP2 IL23R RPL5 GATA4 ERAP1 HCCS GLA DNMT3A ALPK3 SOX5 CCR1 APOB BGN TNNT2 KLRC4 NKX2-5 ZNF148 LMNA MYPN ABCG5 GPR101 COL1A2 FLNA XYLT2 PLD1 RSPRY1 NOTCH1 SCO2 NDUFS2 IDUA HLA-B NKAP LOX CRYAB SMAD3 MAP3K7 MAN2B1 MLXIPL AIP LZTR1 TBL2 CTCF AGA SKI ABCG8 MCTP2 C4A UBAC2 PKD1 ALDH18A1 NR2F2 AKT3 FHL1 UBE2A POLG NDUFAF3 KIF20A BAZ1B PCSK9 FBLN5 PDSS1 RAF1 DCHS1 GBA GJA1 NDUFB11 HADHB SMAD4 SGO1 TNNI3 ADAMTSL2 TLR4 TPM1 GTF2IRD1 RPS6KA3 FAS CRELD1 CCND2 HP_EPITHELIAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPITHELIAL_NEOPLASM BCL10 INHBA MLH1 MSH2 PTEN CDKN1B RSPO1 SMARCA4 NLRP1 APC POLE POLD1 FGFR3 STK11 DKC1 KIT HP_ABNORMAL_THYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_HORMONE_LEVEL THRA TG DUOX2 THRB USP9X HP_CARDIAC_CONDUCTION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_CONDUCTION_ABNORMALITY SLMAP KCNJ2 DYSF TTR SDHAF1 KCNJ5 RRM2B KCNE3 LMNA NDUFB8 RAF1 SDHA PPP1CB SCN1B EMD CACNA1S SCN5A GPC3 PEX7 RNASEH1 MT-TF HCN4 TMEM43 BVES SCN10A SCN3B KCNH2 KCNE5 PTPN11 SURF1 CACNB2 MMP2 CTNNA3 GJA5 SYNE2 MYH7 MMP14 BANF1 TRPM4 GLA MTM1 MT-ATP8 MT-ND1 MT-ND4 SLC25A20 GNB5 DMPK TNNC1 GNAI2 TTN BTNL2 TNNI3K MT-CO1 MT-TW MT-TQ MT-TL1 MT-ND5 SDHB GYG1 KCNQ1 SCO2 NDUFS2 MYBPC3 SYNE1 MT-ND6 TBX5 MT-CYB SCN4B RANGRF CACNA1C CACNA2D1 PHYH CALM3 GPC4 GPX4 ABCC9 NKX2-5 SELENON ATP6V1A MT-CO3 FHL1 ACADVL MT-ATP6 RMRP GPD1L ACTA1 ATP6V1E1 DES BRAF MT-ND3 AKAP9 MT-TK MT-ND2 MT-CO2 AGXT KCND3 SCN2B GJA1 NDUFAF3 SCNN1A ACTN2 KCNJ18 MT-TS2 HLA-DRB1 MT-TV SEMA3A POMT2 JUP LDB3 PLEC CACNA1D PRKAG2 PKP2 SGO1 MT-TH SDHD KCNJ8 MYOZ2 GABRA3 HP_ABNORMAL_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_QT_INTERVAL ALG10B TANGO2 KCNE2 KCNJ2 KCNE1 SLC12A3 BSCL2 AKAP9 SCN10A GNAS SCN4B PSMD12 KCNJ5 CACNA2D1 CALM3 KCNH2 CAV3 STX16 GPC4 KCNQ1 DNAJC19 SCN5A SNTA1 CACNA1S ACADVL GPC3 ACADL CACNB2 CAV1 CLCNKB LMNA CDC73 TRPM4 CALM2 CACNA1C KCNJ18 HADH CAVIN1 ALPK3 KCNA5 FOS BPTF MECP2 ANK2 PHOX2B TECRL TNNI3K SRY ZMPSTE24 NOS1AP AGPAT2 TRDN CALM1 PPARG GMPPB GABRA3 HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY TGFBR1 B3GLCT DAXX ATRX TGFBR2 HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY ABCC9 ROBO4 MAP3K7 PACS1 CHST3 ACTA2 LIMK1 RFC2 BCOR GJA5 B3GAT3 LOX BBS2 EDNRA ELN TAB2 GATA5 SMAD4 FBN2 SLC25A24 PRKG1 MLXIPL YY1AP1 GTF2I PPP2R5D CCNQ SMAD3 TBL2 MFAP5 SMC3 GJA8 TGFB2 NKX2-5 SMAD6 MCTP2 NXN NR2F2 MMP2 FLNA GATA6 TGFBR2 CLIP2 NOTCH1 B3GALT6 MYLK CBL TTC37 SKIV2L MMP14 RAI1 TNXB FOXF1 GATA4 TGFB3 BAZ1B TGFBR1 TAF2 ARHGAP31 NOTCH3 KANSL1 MAT2A FBN1 SRY NAA10 SGO1 RAC1 IFT122 GTF2IRD1 FOXE3 MYH11 RPL26 SNIP1 PUF60 ACTB MYH7 CRELD1 HP_ABNORMAL_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PR_INTERVAL GPD1L PRKAG2 NKX2-5 GAA MT-CYB KCNJ18 CLCNKB TRPM4 KCNA5 SLC12A3 DMPK SCN2B CACNA1S GABRA3 HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION TSC1 PAX3 COL4A1 OCA2 RBP3 LRAT RLBP1 MITF CNGA1 CACNA1F MUTYH RHO APC RDH5 CRX PRPH2 ROM1 C8orf37 IFNG KIF7 EDNRB GPR143 MC1R SOX10 POU3F4 EPG5 TSC2 MIR140 ARL6 CAPN5 TYR AIPL1 PDE6G CLRN1 SLC25A15 GUCY2D PRPF8 GGCX BLOC1S6 SLC45A2 EFEMP1 GUCA1A HP_GEOGRAPHIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GEOGRAPHIC_ATROPHY CFHR3 HMCN1 CFHR1 IMPDH1 APOE HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY VPS33A NOTCH2 IL12A PRDM16 LIMK1 RFC2 HAAO LDLR G6PC3 ADAMTS10 NDUFB8 FBN2 FBN1 DTNA PPP1CB GTF2I HEPHL1 ABCC6 TGFB3 MEFV ELN PIK3R2 IL12A-AS1 ATRX ANKRD11 GNPTAB PRKAR1A SURF1 HADHA IL10 GATA6 COX7B CHST3 CLIP2 IRX5 XYLT1 B3GALT6 SDHD DSE LDLRAP1 CBL FLNC STAT4 CLIC2 LTBP2 IL23R RPL5 GATA4 ERAP1 HCCS GLA DNMT3A ALPK3 SOX5 ARL6 CCR1 APOB BGN TNNT2 NCAPG2 KLRC4 NKX2-5 ZNF148 LMNA MYPN ABCG5 GPR101 COL1A2 FLNA XYLT2 PLD1 RSPRY1 NOTCH1 SCO2 NDUFS2 MYH7 IDUA HLA-B NKAP LOX NRXN1 CRYAB MYSM1 SMAD3 MAP3K7 SLC25A24 DLL4 MAN2B1 CNTNAP2 MLXIPL RAD21 AIP TAB2 LZTR1 TBL2 CTCF ATP6V1E1 AGA SKI ABCG8 DAXX MCTP2 C4A UBAC2 PKD1 ALDH18A1 NR2F2 NEK1 SCN5A AKT3 FHL1 UBE2A POLG DVL3 NDUFAF3 KIF20A BAZ1B PCSK9 FBLN5 PDSS1 RAF1 DCHS1 GBA GJA1 NDUFB11 HADHB SMAD4 SGO1 TNNI3 ADAMTSL2 TLR4 NONO RPS19 TPM1 GTF2IRD1 RPS6KA3 FAS CRELD1 CCND2 HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY VPS33A CLIC2 DVL3 KIF20A HCCS NRXN1 DNMT3A MYSM1 ALPK3 ARL6 FBN1 SLC25A24 DLL4 CNTNAP2 RAD21 TAB2 TNNT2 NCAPG2 HEPHL1 ATP6V1E1 NDUFB11 DAXX HADHB TNNI3 MYPN ADAMTSL2 ATRX NEK1 PRKAR1A SCN5A COL1A2 FLNA NONO HADHA FLNC RPS19 COX7B CHST3 PLD1 SDHD MYH7 HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY ROBO4 NOTCH2 SH2B1 IL12A CEP57 LIMK1 RFC2 HAAO LDLR GATA5 ADAMTS10 FGFR1 GTF2I SMAD3 IDUA ANKS6 MFAP5 C12orf57 TGFB3 MEFV ELN IL12A-AS1 SMAD6 GNPTAB LOX IL10 GATA6 CHST3 CLIP2 CRKL LDLRAP1 CBL STAT4 TTC37 CLIC2 D2HGDH LTBP2 SKIV2L IL23R DDX58 ALDH18A1 GATA4 ERAP1 CCR1 ARHGAP31 APOB PCGF2 SCN1B HLA-B BCR KLRC4 FBN1 ARFGEF2 YY1AP1 NPHP3 LMNA TGFBR1 TGFB2 VWF NR2F2 ABCG5 TRIP13 WASHC5 COL1A2 FLNA IFIH1 MYH11 MAN2B1 BUB1B SNIP1 NOTCH1 CYP24A1 ACTB GJA1 DPH1 HCN4 EHMT1 CCDC22 SLC35A1 GNPTG ACTA2 KRAS TAB2 ESCO2 FLI1 SMAD4 SLC2A10 TMTC3 PRKG1 MLXIPL GLB1 TBL2 ATP6V1E1 NKX2-5 ABCG8 BCOR C4A BUB3 ARF1 UBAC2 FBLN5 WT1 TGFBR2 BUB1 MAPK1 MYLK ERMARD CCNQ EBP FOXF1 BAZ1B PCSK9 PDSS1 MAT2A NEK8 ADAMTSL2 TLR4 NEDD4L GTF2IRD1 FOXE3 MAP1B B4GALT7 FAS PUF60 AMER1 CRELD1 HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY ROBO4 PRDM5 PRDM16 LIMK1 PPP1CB MRAS HAAO MGP NOTCH2 DSG1 G6PC3 GATA5 FGFR1 NDUFB8 FBN2 FBN1 DTNA COL1A1 HEPHL1 ABCC6 TGFB3 MEFV ELN IL12A-AS1 ATRX SMAD6 PRKAR1A SURF1 HADHA KRAS GATA6 COX7B B3GALT6 SDHD B3GLCT CBL TTC37 CLIC2 ENPP1 CHD7 ALDH18A1 NRAS SHOC2 FAM13A STN1 DSP HCCS TBCK FBLN5 GLA CCR1 ARHGAP31 APOB BGN SCN1B KANSL1 BPTF TNNT2 NCAPG2 KLRC4 RAF1 ZNF148 ARFGEF2 YY1AP1 BMP2 NPHP3 LMNA TGFB2 TRIP13 WASHC5 GPR101 FLNA XYLT2 MYH11 RSPRY1 MAN2B1 SNIP1 HRAS SCO2 NDUFS2 ACTB CEP57 SEMA3E NKAP ACTA2 LOX ZNF469 ESCO2 NRXN1 CRYAB MYSM1 FLI1 SMAD4 MAP3K7 SLC2A10 TMTC3 PRKG1 MLXIPL RAD21 AIP TAB2 LZTR1 GLB1 SARDH BRAF SFTPC RPL27 NKX2-5 ABCA3 AGA SKI ABCG8 DAXX MCTP2 BCOR C4A BUB3 TRAF7 UBAC2 PKD1 IGFBP7 NF1 AKT3 SFTPA1 ZIC3 MAPK1 UBE2A PTPN11 EBP DVL3 RAB23 MAP2K1 FOXF1 BAZ1B RTEL1 PCSK9 SFTPA2 GNPTAB TBX2 GBA GATA4 PIK3R2 NEK8 NOTCH1 TNNI3 ADAMTSL2 TLR4 ATP11A NEDD4L NONO TPM1 GTF2IRD1 MUC5B FAS CCND2 EFEMP2 VPS33A SH2B1 IL12A RFC2 PSMD12 RIT1 LDLR ADAMTS10 GPC4 GTF2I SMAD3 IDUA ANKS6 MFAP5 C12orf57 SMC3 MAP2K2 ANKRD11 TERC IL10 CHST3 CLIP2 IRX5 CRKL XYLT1 DSE LDLRAP1 FKTN FLNC STAT4 DNAL1 D2HGDH LTBP2 SKIV2L IL23R DDX58 RPL5 ERAP1 DCHS1 DNMT3A ALPK3 SOX5 ARL6 COL1A2 PCGF2 SOS2 HLA-B BCR INVS NEK9 TGFBR1 MYPN VWF NR2F2 ABCG5 CDC42 IFIH1 PLD1 BUB1B CYP24A1 GJA1 MYH7 DPH1 ZEB2 HCN4 EHMT1 CCDC22 SLC35A1 GNPTG PARN SLC25A24 DLL4 CNTNAP2 KDM6A FAT4 TBL2 RNF135 CTCF ATP6V1E1 ARF1 POLR3A NEK1 SCN5A WT1 STRA6 TGFBR2 ADK BUB1 FHL1 MYLK ERMARD POLG CCNQ WNT4 NDUFAF3 KIF20A PDSS1 ADA FLT4 MAT2A SOS1 NDUFB11 ACAD8 HADHB GDF1 SGO1 TERT RPS19 FOXE3 MAP1B DPP9 GPC3 RPS6KA3 B4GALT7 PUF60 AMER1 CRELD1 HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY EFEMP2 PRDM5 LIMK1 RFC2 PPP1CB PSMD12 MRAS MGP NOTCH2 DSG1 RIT1 G6PC3 ADAMTS10 NDUFB8 RAF1 GPC4 COL1A1 GTF2I MAP2K1 ANKS6 SMC3 HRAS ELN MAP2K2 PTPN11 GNPTAB SURF1 KRAS TERC BRAF CHST3 CLIP2 FKTN NRXN1 B3GLCT DNAL1 LTBP2 ENPP1 CHD7 NRAS SHOC2 FAM13A STN1 DSP TBCK DCHS1 NF1 FBLN5 COL1A2 ARHGAP31 SOS2 KANSL1 BPTF INVS NEK9 BMP2 CDC42 WASHC5 FBN1 SCO2 NDUFS2 CYP24A1 ZEB2 SEMA3E MAP3K7 CCDC22 TTC37 ZNF469 SMAD3 PARN CNTNAP2 MLXIPL KDM6A RAD21 TAB2 FAT4 LZTR1 GATA6 TBL2 ALDH18A1 RNF135 SARDH FOXF1 SFTPC RPL27 ABCA3 BCOR TRAF7 POLR3A IGFBP7 STRA6 ADK SFTPA1 ZIC3 WNT4 NDUFAF3 RAB23 BAZ1B RTEL1 ADA SFTPA2 TBX2 FLT4 SOS1 GATA4 ACAD8 NEK8 NOTCH1 GDF1 SGO1 TERT ATP11A GTF2IRD1 DPP9 MUC5B GPC3 B4GALT7 HP_ABNORMAL_HEART_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_SOUND GJA1 NKX2-5 ABCG8 GATA4 SMAD6 ABCG5 BMPR2 NR2F2 PCSK9 PRKAR1A LDLR GATA6 TMEM260 APOB NOTCH1 FBN1 GATA5 SDHD RBBP8 LDLRAP1 GNPTAB MYH7 CRELD1 HP_OPPORTUNISTIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPPORTUNISTIC_INFECTION RAG1 PNP PTPRC MBL2 DCLRE1C ZAP70 IL2RG RAG2 ADA IL7R JAK3 HP_CLINICAL_COURSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINICAL_COURSE CYLD SLC1A4 HEPACAM GLRA1 MICOS13 MTAP CLN6 ELP1 NEUROG3 CHRNA4 SAMD12 TSFM CRPPA RNASEH2C EPCAM POLG NEFL CLP1 CC2D2A PINK1 CRAT TBP ERGIC1 MOGS ASAH1 NLGN3 NDUFAF1 NDUFV2 EGR2 MYLK FZD6 PPP1R3A CHMP1A SNCA RSPH3 PDGFB LAMA2 GFPT1 DSP MCM2 LAMC2 NR4A2 HAX1 IREB2 VPS13A SIGMAR1 DNMT1 HESX1 HNMT DLG4 PNPLA6 MRPS16 LMNB2 PTEN FGFR3 MYH7 MECP2 LACC1 GLB1 KCNC3 POMGNT1 NUP93 GYG1 MAG PDX1 SFTPB NFIX NALCN ANTXR2 SCARB2 F13A1 PLP1 GLA FA2H RETN MTPAP DDHD2 TEAD1 WDR45B COA7 CLCN5 DOCK2 SLC9A1 GPD2 MAPT MFSD8 NUP133 IGHM HNF4A UQCC3 DGUOK LMAN2L NEXMIF CFB COLQ NHLRC1 MYH14 CLPB COL6A3 DDC CTC1 GRHL2 NDUFS2 SEC61A1 FLNB PIP5K1C PLA2G6 SPG11 CASQ2 MTR LMBRD1 SLC9A6 PEX2 GPR161 AIFM1 COL4A3 ALG13 TSC2 ITPA CC2D1A CACNA2D2 CHRNB1 DRD3 FKTN PLK4 CACNB4 BMPR1B HNF1A RFC1 CFH TSEN54 ATP13A2 PEX5 CEP135 F2 PDHX MRPS34 PCK1 RETREG1 ATP5F1A DNAJC5 MLC1 MSH6 PLG PRKAR1A SCN4A RPS29 FAT2 TPM3 MAST1 DNAJB6 CAPN3 SDHAF2 VPS53 CHAMP1 SPART LARS2 PRDX1 PEX13 ALPL KIAA1109 SMN1 NKX2-1 NAA10 HUWE1 SLC26A2 TERC RFWD3 BRAT1 PIGT MME ANO5 GDAP2 KCNA2 HIVEP2 ACTA1 FAT4 KIAA0556 NUS1 UFSP2 NLRP3 QARS1 MTRR GATM GP6 WASHC5 FBXO38 F5 GJB3 NLRP12 XPC ASNS COL13A1 MAP2K1 EIF2B3 GRM1 GBA2 EPS8 EIF2AK3 PRICKLE1 PMS2 LTC4S RPS6KA3 GDF5 ZNF335 CPT2 CD79B ATXN8OS ISCA1 VAMP2 MRPS22 HSPG2 B4GALNT1 SEC63 HYOU1 IBA57 PRKCSH UROS HNRNPU MBTPS2 CHRNE IFT140 CAD TGFBR1 STT3B GARS1 XRCC1 C1QBP COG6 PHOX2B SMPD1 TNPO3 VMA21 ABCD1 PC VAMP1 FMN2 RET AAGAB USP18 HTRA2 PEX19 CALM1 PIGP POMK MYO5A NXN LMOD1 GALNS GLRB UBA5 IGF1 DONSON MYL1 NAGLU PPT1 KIF5A TARS2 TRDN TAB2 NUP37 CNTNAP1 MMACHC FCSK DDHD1 ERCC5 COX10 FBXO7 ADAT3 TWNK BCL11B EEF1A2 SETX TCF3 EIF2B5 CALCRL PIK3CA CENPF DOCK7 KRT86 GJB1 BCKDHA TOE1 TRAPPC2L EARS2 CWF19L1 UBR1 EBP REV3L EPRS1 MIPEP MYOT ERCC1 ATP1A3 RNF170 TTN BSCL2 CYP11B2 PGAP2 ATN1 COL4A4 PEX11B SLC17A5 LRTOMT ERCC6 KLC2 POLR3B VWA3B COL9A1 EPG5 MECR TNFRSF11A BCL11A ESCO2 WDR26 BRAF YEATS2 GFI1B HOXB1 TRIOBP DOK7 SLC34A2 ERCC8 KY ALS2 ACTB PUS3 ANKH TNFRSF11B ERBB4 CERS1 GATA1 PRNP DYSF GJB2 POLE ITGA7 SH3BP2 MLH1 MPC1 RPGRIP1L HIKESHI CAV3 CCDC22 COQ8B SMCHD1 SACS PPP2CA SGCG KCNT2 DMXL2 SLC20A2 ASXL2 NR3C2 CARD11 PMP22 SNRPN FOXRED1 PEX6 ENO3 CDK10 GALT NDUFA13 PDE11A UPB1 KCNA1 SLC25A38 SLC25A26 SLC25A19 PDE10A SCNN1G TMX2 ABCA3 C12orf65 HNF1B SCN3A AMT SLC6A3 RNASET2 DNAJB2 MRPS2 GPRASP2 GDAP1 SLC34A3 POMT2 LIMK1 CFL2 SLC2A2 SUCLA2 EIF2B4 RPS28 NARS2 KIFBP SURF1 SERPINE1 AMMECR1 SLC6A9 SPTAN1 TPP1 ELN GABRB3 NUP160 AARS2 WFS1 LMNA TH KMT2B FUT8 PDP1 TTBK2 TMPRSS3 C19orf12 ADD3 CDKL5 DNM2 ELP2 ALG11 UMOD KCTD17 CHRNA1 NSDHL HSPB3 DMD NDUFAF8 AP4E1 SMARCD2 KRT12 PHKG2 FHL1 ROR2 ALG14 MORC2 COQ2 AGK RARS2 CACNA1C HK1 TNNT2 DSTYK ITGA8 CLIC5 CST3 MYMK ZC4H2 ELOVL5 GCH1 TOP3A FRAS1 PABPN1 UBAP1 FMR1 NADK2 VCP MBOAT7 RERE UQCC2 APTX DYNC1H1 LRPPRC GBA ATP6V1B2 TRAPPC6B AR LIPC ASPM SLC25A4 SELENON TAF1 TBC1D24 WT1 SLC18A2 TSPYL1 PTPRQ C2CD3 CXCR4 TREX1 STAMBP TOR1AIP1 CDON HNRNPDL MAPK8IP1 SDHC CSPP1 ARX ROBO1 CCDC103 NUP88 PEX14 SCN5A MYLK2 ATP2B3 HELLS GTPBP2 MMAA SGPL1 METTL23 MOCS2 CRYAB BICD2 ZBTB24 CHST6 ADA2 FRMPD4 GABRG2 ITGA6 SDHA ISCA2 ROBO3 CFI FERMT3 INF2 STIM1 WNK1 SUCLG1 VDR MGME1 CNTN1 DNAJB11 CHKB CTNS SLC39A14 TRPC3 SLC12A5 DNM1L TYMP NDRG1 ASH1L CD3E MYO5B MYH6 EMC1 CCDC115 DPM1 SLC35A1 PCDH19 PROKR2 PTS PEX10 ALMS1 ETFDH PDE8B HJV RYR1 TCTN2 SCN8A SLC25A24 NUP107 NDE1 NDUFA10 GRN NTRK1 COQ6 PARN GPT2 DAG1 RAB27A FRMD7 LCK INTU LAMA3 SPECC1L DOLK IARS1 COG2 TPM2 ROR1 SNORD118 SLC2A1 ARFGEF2 PMP2 ADAR FLT4 CLCN7 MFSD2A DEAF1 MYSM1 ACO2 TRIP4 ADCY5 KLHL7 PHGDH PTCHD1 SLC46A1 PIK3R1 TRPV4 ATXN3 ADH1C CSF1R SLURP1 SLC39A4 MYH11 NAGA DBT HRAS RASGRP2 CYP2R1 RFT1 DNAAF5 PANK2 RAG1 TMEM231 FLNC NRAS RTEL1 TUFM CTDP1 AUH SIK1 AKR1D1 CYB5A SGCE DOCK8 KRT14 GABRB1 VSX1 CHRND CTNNB1 TRAC KCNH1 STAT3 PTRH2 SLC2A10 COQ7 RUSC2 WDR81 MARS1 STARD7 PIGA ACP5 GNE POLR3A PLEC MAP3K20 PMPCB BIN1 GAD1 PREPL COX6A1 WAC PPARG ASXL1 ATL1 ETFA SLC44A4 REPS1 PKD2 ERCC4 SMO IER3IP1 MRPS7 FKRP FAN1 PUM1 NDUFAF4 NDUFAF2 CEP104 AIMP1 SCN2A CACNA1A TTR PLXND1 ATG5 YARS2 SYT1 LIPT1 ATXN2 PSPH CASP10 EXT1 AKAP10 MMAB ATAD1 OPHN1 PMPCA GFAP PIEZO2 PSEN1 AP4M1 PNKD PTF1A PCDH12 TCF7L2 NEFH OSMR PDK3 COX4I2 KIF1A GNB1 AKT2 ACER3 SMARCE1 TGM6 TRIM36 FRG1 BEAN1 TECRL CTSF NDUFA2 COL2A1 MTNR1B KLF1 GLS GRIP1 TRAPPC9 TUBB3 NOP56 LRP5 EBF3 MPDU1 SPG21 WDR4 HCN4 KRAS TIMMDC1 SPTBN2 COL6A1 TMEM43 COL11A1 LITAF CUBN KLHL40 FLNA ATP6AP2 DCTN1 MYH9 AP1S1 DPM2 DRD5 PEX16 SCN9A ENPP1 CDSN PRX FXN SLC35A2 PEX3 PYROXD1 ZNF142 GCK TUBGCP4 IDUA KBTBD13 KCNQ2 SLC30A8 MRE11 ACTG1 MYO7A BSND TRIP11 WDR73 AP3B1 SYT14 SOX18 PDGFRB NLGN4X GLI3 BCS1L SLC6A8 GNB4 ERLIN1 B4GAT1 ARHGEF10 RUBCN KRT81 KCNK3 TACSTD2 GPC3 NDUFV1 OSTM1 NEB CD59 HMGA1 ATRX ADSL BOLA3 MTFMT KRT5 SLC1A2 TSC1 TRAK1 PAX4 GSC SUFU RNASEH2A PEX1 TUBA8 REEP2 DNA2 ADGRV1 DHPS MLH3 LGI4 MSH2 POLG2 NCAPG2 MEGF10 SRD5A3 TNNT1 ABAT HDAC6 PI4KA SLC7A7 DYNC1I2 HIBCH L2HGDH ILDR1 EDC3 UCHL1 GALNT3 CLDN16 STUB1 CUX2 NDUFA12 TRAPPC12 YWHAG SEPSECS NEDD4L GNAS COL25A1 EXOSC9 SLC39A8 LRP12 PSAT1 GUCY2D POT1 VRK1 LAMB1 PEX12 NPHS2 VIM PNKP RAG2 COPB2 VARS1 GEMIN4 RDX TBR1 CHD3 ASCL1 OPA1 ABHD12 PSEN2 SSR4 CRTAP OCRL ZSWIM6 ACTL6B FAM126A JPH1 HSD17B4 UBQLN2 GTF2IRD1 NPC1 AP4B1 COCH PIGY IGF2BP2 KCTD7 TUBB4A TK2 MACF1 RNF13 CORO1A ZMPSTE24 SNCAIP GPHN PRKCG PCDH15 MUC1 C12orf57 PLD3 RYR2 PRDM8 OFD1 SDHB NCF1 CHMP2B CLIP2 ERCC2 DPM3 SIL1 ZFYVE26 PEX26 PIK3R5 DCDC2 PLAA MCM3AP TFAM CRB1 BICC1 CFHR5 EPO TBCK STIL TNFRSF4 PTH1R NKX6-2 PMS1 DIAPH1 TMEM94 DVL1 MMP1 RPL35A HSPB1 CD8A DNAJC6 IRF2BPL SDHD EEF2 LMNB1 ERLIN2 ACOX2 PRKRA NDUFS1 PRKCD CIB2 MPZ EIF2B1 MYPN TGFB1 KIDINS220 CCT5 ELOVL4 SBF2 RPS26 NOTCH3 ACTG2 LAMB2 PSAP CCDC88C TRPA1 CAVIN1 IGF1R MTHFR PDHA1 F13B AP5Z1 KDM5B MMADHC ACTN4 DLAT SMAD3 MTO1 HSPD1 TUBB6 SLC33A1 ARMC9 TRIT1 UVSSA TRIM32 PMVK KMT2E SNAP29 BCKDHB GLUL COASY HINT1 TBX19 PGAP3 SMPX CLCNKA RNU4ATAC IGLL1 KCNT1 SYNE1 NEUROD2 PUF60 ATP1A1 VAC14 GREB1L CBLIF ELANE ATPAF2 SCNN1A SCN1A ALDH18A1 SBF1 NAXD PIGG DCX SPAST BCORL1 DCPS EYA4 IL21 PRKDC FIG4 SLC12A6 NF2 MARCHF6 TNNI3 HMGCL TGFBR2 MED17 GPD1 EED COL6A2 SPR SDHAF1 CLDN14 HCFC1 ABCB4 MFN2 GLDC PLCG2 PLCE1 HEXA WDR11 TMEM240 BAZ1B CYP7B1 ABCD3 NDUFS4 SYNJ1 CLCNKB PIGO SMOC1 ASS1 TLK2 COL4A5 CACNA1G GRIN2D NDUFB8 CD247 ADSS1 TYR GRIK2 JAG1 CRLF1 HPGD SAR1B TARDBP MED25 SLC10A2 CHCHD10 PTPN1 HYLS1 MPDZ MUSK APOE GATAD2B SPEG NPHS1 ACADSB AIRE EXT2 MPV17 CHD1 PRPS1 NBEAL2 STXBP1 SQSTM1 DPH1 AKT1 AAAS HYDIN MEFV TSEN15 SLC6A5 ALG1 C9orf72 SMAD9 ALG9 TBCE JAM3 RANBP2 DIABLO LARGE1 KITLG FOXF1 PDXK PHIP DDX41 ADK GJA1 AFG3L2 APP RAPGEF2 SLC25A22 IGHMBP2 ITK LCA5 DPAGT1 ATXN1 KCNJ10 MTOR JUP CENPJ NDUFS7 MCOLN1 PNPLA2 KCND3 AARS1 CPT1C RPS19 POMT1 BAG3 LIPA SLC16A2 MN1 S1PR2 GLE1 CCNO TBXT TENM4 IKBKB PLEKHG5 ATP11C TNFRSF13C SUOX LRSAM1 PNPLA8 VPS13C TJP2 PDYN ADAM22 CPLX1 MRPS14 MRPL44 LRP4 LIMS2 NGF EPM2A CLCN1 PCNA LRBA RHOA TSHR HBG2 LRRK2 CRB2 WARS1 NDUFB11 HSD17B10 EP300 DCHS1 KCNB1 GMPPB CDH23 TMTC3 MMP2 VPS33A HSD3B7 TSEN2 GBE1 DNAAF4 FLI1 GPC4 LIPT2 GJC2 TMEM70 ASL FAM20C PQBP1 SNRPB FTL AP3D1 PIGN EMG1 PRUNE1 OGDH HABP2 SLC35D1 VPS33B MAPKBP1 NDUFB9 CREB3L1 AQP2 NR1H4 DHX30 GNPTAB IRS1 ZAP70 HERC1 QDPR VPS45 ATP8B1 AVPR2 KPTN SPTBN4 HADHA SOST VLDLR DLL3 SGCB CP CAV1 SLC52A2 GSN RFC2 NOL3 XPR1 COL7A1 SCN10A MYORG MID2 NDUFAF3 RNASEH1 ACOX1 CYP11B1 ATP7A ORAI1 TXN2 KCNJ11 KCNMA1 EMD COA5 LYRM7 DNAL1 WDR62 SPG7 MED13L SASH1 BRF1 NFKBIA NEUROD1 ITPR1 SLC19A3 SCO2 TIA1 ALG2 TIMM8A TGM3 ARHGEF9 MFF PYCR2 FZD4 SPRY2 SLC52A3 HPCA FGF14 POMC ASCC1 TMEM67 DDX3X TRPM6 PDE4D CD3D NIPA1 NGLY1 SLC5A7 MAGEL2 KRT83 SLC25A12 TRMT10C ABCB7 MTMR14 PAX2 TERT TRMT1 CTSD SMN2 RPSA ABCC8 SGCA TTC25 ARV1 VPS13D CLCF1 PLEKHG2 INPP5K SCNN1B RRM2B MATR3 GNS KCNC1 NFE2L2 ATP8A2 ABCB11 SYNE2 GRIN1 SNX14 CA8 CNOT1 NUP85 CDK5 P4HTM POGLUT1 VARS2 AGTPBP1 GCSH AIMP2 AP4S1 ZNF687 FARSB NPC2 SELENOI GPAA1 MLXIPL FREM2 KIF5C PCLO FARS2 PAK1 GAN RTN2 PRMT7 YME1L1 RORC EXOSC3 IMPDH1 DGKE MESP2 CHAT ISCU EIF2B2 KIF1C MOCS1 GOSR2 NEK8 RMND1 KATNB1 ADNP LBR PRKN AASS ITGB4 PKHD1 ETFB EIF4G1 NLRC4 ACADS RBCK1 FGD4 GTF2I DEGS1 NUP214 KCNQ4 RAPSN ALDH5A1 LAMB3 DARS2 DDOST ALAS2 BCL10 CLPX CLN8 TUBB TBK1 TTI2 STT3A TMEM260 ATAD3A COX15 CDCA7 CCND2 HERC2 PYGM CYBA DARS1 BRPF1 LDB3 AFF4 IRS2 SCYL2 ABCD4 FN1 MYO1E SLC12A3 TUBGCP6 PARK7 STING1 NCF2 MARS2 GFM1 KIF1B HLA-DQB1 TBL2 NAXE DZIP1L DNAAF3 RBM8A CA12 TUBGCP2 CYBB ARHGDIA MAP11 LDHA DAB1 TFG GRID2 LHX4 SARS2 BLNK TELO2 FLVCR1 COL9A2 AMACR FECH SNAP25 AP1S2 CD96 GLUD2 CIT HP_ABNORMAL_ORAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_PHYSIOLOGY RSPH1 PFN1 CBL SPAG1 CLCN4 LBR MCIDAS DAO STAT5B FOXG1 FTSJ1 DNAH1 POLR3A GABRG2 PON2 UPF3B PON1 PDE10A HERC1 CFAP221 TUBB3 PML RAB39B HCFC1 PPARGC1A DNAAF1 RPGR F2 STK36 HNRNPA1 ARHGEF6 DNAH9 VAC14 GNS OFD1 RSPH4A CCR6 SLC9A6 CXorf56 AP4E1 NME8 FUS GAS8 AP4M1 VPS13A ADNP ATP1A3 GLE1 COLQ HLA-B CCDC65 ARX CFAP298 RUNX1 BCOR MATR3 NOD2 BCORL1 CFAP300 F5 PON3 IL1RAPL1 NEK1 IRF2BP2 HLA-DRB1 GABRA1 ATP6AP2 FGFR3 SPEF2 OPTN B2M ZC4H2 NRXN1 ZBTB16 ZMYND10 GCH1 UBE3A MECP2 C9orf72 SCNN1A GLT8D1 UNC13A STRADA CCDC39 ARMC4 NTNG2 IKZF1 CNKSR2 DNAI2 GFM2 NUMA1 RPS6KA3 MID2 ATRX SCN9A RARA NEK10 ANXA11 LAMA2 PMP22 PTPN22 ERBB4 UBQLN2 DNAAF6 TAF15 FIP1L1 TSPAN7 CCDC103 ASXL1 SQSTM1 SERPING1 ATXN2 DNAAF4 F8 FGFR2 ADSS1 FOXP2 FARS2 QDPR F13A1 FGF10 NPM1 SCNN1B TUBB2B CCNF MRE11 ALS2 PTCHD1 ACSL4 CERT1 GPT2 IRF5 FOXJ1 CAV1 GAS2L2 PRKAR1A PPP2R5D TET2 DCTN1 KIF23 POLR3B CCDC151 ATP7B WAS TBK1 USP27X DNAL1 EXTL3 KIF15 SRPX2 TREM2 GRIN2A NABP1 TP63 PYGM PTS AP4S1 FBLN1 RSPH9 NECTIN1 NEFH SOD1 PRPS1 FIG4 STAT3 PCGF2 ALG13 PRPH DNAH5 AP4B1 AGTR2 MSX1 VCP IQSEC2 SETD5 TARDBP PAK3 TTC12 TBL1XR1 STXBP1 SLC12A5 CHCHD10 ZNF41 CLDN10 DNAI1 SELENBP1 ZEB2 GSN DNAJB13 FRMPD4 TH PCDH19 EDARADD SRSF2 GNAI3 CCDC40 ZNF711 ZBTB11 F10 MED12 DLG3 CHMP2B CNTNAP2 ANG SPART SYP VAPB CFAP410 TANGO2 GDI1 TTC25 DMD DNAAF2 SLC9A7 SCNN1G DRC1 DEAF1 RSPH3 LRRC6 DNAAF5 CCNO CFTR CHRM3 HYDIN EIF2S3 CCDC114 MAT1A C12orf65 LRRC56 EPHA4 SCN1A USP9X LAMB2 DLAT DNAAF3 SCN2A CCN2 SCN1B GABBR2 F13B ZNF81 SLC16A2 DNAH11 IRF6 HP_ABNORMAL_WAIST_TO_HIP_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_WAIST_TO_HIP_RATIO ENPP1 PPARG PPP1R3A IGF2BP2 PAX4 TCF7L2 HNF1A LIPC NR0B2 SLC2A2 GPD2 AKT2 AGRP ADRB2 IRS1 HNF4A GCK PDX1 ABCC8 HNF1B MTNR1B PTPN1 POMC SLC30A8 WFS1 ADRB3 HMGA1 MAPK8IP1 SDC3 GHRL NEUROD1 IRS2 CARTPT KCNJ11 UCP3 RETN HP_ABNORMAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_REFLEX SLC1A4 MICOS13 ELP1 XPA RAB3GAP1 RNASEH2C LGI4 EPCAM NEFL ERCC3 CLP1 MAG ADCY6 STIL PLPBP CC2D2A PINK1 CRAT SLC2A1 NDUFS7 WASHC5 UCHL1 EGR2 SLC52A3 CHMP1A NSD1 SCN8A CACNA1G ARHGEF6 RDH12 TERT CCR1 WWOX MT-ATP8 LAMA2 NEB IREB2 VPS13A KIF1A NUP62 SIGMAR1 KCNK4 ARX DNMT1 GAN TTPA NT5C2 CDK6 PNPLA6 ATP6AP2 MT-TT COQ2 SLC7A14 HSPB1 GNAS REEP1 PHYH SLX4 KCNC3 SELENON ALDH18A1 TREX1 NALCN DYSF VPS13C ATRX ARSA SQSTM1 PLP1 FA2H IGHMBP2 LYST MTPAP NDUFV1 DDHD2 RAI1 RFC1 DOCK3 COA7 MAPT TOE1 PHC1 JAM2 USP8 SDHA DGUOK CHCHD2 ADSS1 ATXN8OS EEF1A2 MYH14 CLPB DDC ZFYVE26 CTC1 TWNK TARDBP NDUFS2 RARS1 MECP2 PLA2G6 TTC19 ALS2 SPG11 PPP2R5D PEX2 EP300 POU3F4 AIFM1 CLTC ALG13 EXTL3 DEAF1 SPG7 FKTN KLC2 ZFYVE27 CRPPA C19orf12 IL23R PEX12 NCAPD3 UBA5 ATP13A2 NOP56 C8orf37 PEX5 NEK1 ERLIN2 ADAR MRPS34 IQSEC2 RETREG1 IFIH1 UQCRQ CERKL MSH6 CREBBP POLG OPA3 UGP2 PMP22 SLC25A1 PARS2 ACADM UNC93B1 RRM2B GALC GARS1 RAB18 ASPA HMGCL MAD2L2 ATXN7 SPART HINT1 PRPF4 MT-TL1 TANGO2 PEX13 TTC8 SLC18A3 CHRND SNCA SMN1 MTFMT RYR1 HUWE1 BRAT1 PIGN PIGT ST3GAL3 NIPA1 MME GDAP2 HGSNAT ACTA1 MAT1A GFPT1 GJB1 ERCC4 QARS1 FLVCR1 PEX10 ARHGEF18 RTN2 RP1 CWF19L1 FBXO38 MED12 PALB2 PAH GMPPB ERLIN1 DNM1 ASNS KARS1 CHCHD10 GRM1 RTTN GBA2 CHMP2B PRICKLE1 PMS2 MCPH1 BEAN1 TGFB3 UBTF GUCA1B CDK5RAP2 PDE6G QRICH1 SYNJ1 ISCA1 TUBB3 FUS MYOT B4GALNT1 TBCK PPP2R2B IBA57 MYF6 DCAF8 PDE6B PEX11B AP4M1 PODXL LBR XRCC1 PC NAGA VAMP1 TRIM2 PEX19 PEX1 PIGP SPATA7 TRMT10A CACNA1A GLRB MYL1 MAN2B1 COQ8A VPS37A CNTNAP1 TPI1 CNKSR2 PDYN DDHD1 ERCC5 COX10 LIFR FBXO7 SEMA4A ASPM SETX CYFIP2 FLNC PRDM8 TRAF3 SAMD9L ATXN3 DCC PCYT2 COL12A1 TBX4 CHRNA1 PIK3CA EPRS1 ERCC1 MAP11 CPT1C RNF170 RAD51 GLYCTK BSCL2 PTCHD1 ACSL4 PDK3 SLC16A2 TACO1 KIAA0586 EYS IDUA ERCC6 HARS1 ALG3 BMPR1A VCP POLR3B VWA3B RTEL1 SLC25A22 MT-TN TBK1 MECR NDUFV2 CACNA1E PTS SLC33A1 STAT4 AP4S1 TMEM106B TPM2 PIGO SNAP29 DKC1 KY RLIM KIF1C PIGL RAD51C TPM3 MPZ PAK3 SLC25A15 USH2A CNTNAP2 LMNA MLH1 OFD1 RP2 RPGRIP1L HIKESHI MYL2 IFT172 KCNA4 ATXN2 PRPS1 SACS MT-ND4 FAM161A RPE65 PRNP SLC20A2 KDM5C FLRT1 PIGW DMD TBC1D24 COPB2 MERTK RNASEH2A NDUFA13 KCNA1 MT-TV PSAP C12orf65 ARL6IP1 TMX2 IARS2 GM2A TDP1 APOB HSPG2 AMT MAB21L1 SLC6A3 MCCC2 DNAJB2 GDAP1 GBE1 SNX14 PIGY NDUFS1 LIMK1 CFL2 LIPT1 HTT MARS2 SUCLA2 LPIN1 NARS2 SURF1 PRPF6 KLHL9 SLC6A9 DNM2 SPTAN1 NUBPL TPP1 ELN NDUFS8 GNAQ SYNE2 BICD2 TTBK2 ADD3 ZNF408 ELP2 CEP135 TRAK1 XPC HSPB3 KNL1 AP4E1 SLC5A7 HRAS MORC2 IL1RAPL1 RARS2 GABRA2 HK1 SYNE1 SCN4A COL13A1 ZC4H2 UFC1 FKRP UBAP1 NRAS DNAJC6 FMR1 MBOAT7 APTX DYNC1H1 CNGB1 TRAPPC6B AR DST TBP GAMT IFT140 PUS3 TSPAN7 SLC18A2 TSPYL1 PLEC GLRX5 FARS2 HNRNPDL TECPR2 PIGV C9orf72 DARS2 MYO9A PEX14 SEPTIN9 GPT2 IL12A AP5Z1 INPP5K SLC6A5 GTPBP2 KIZ CRYAB GRN ZNHIT3 NDUFA12 TMEM43 FRMPD4 VAPB NECAP1 ISCA2 POMK INF2 STIM1 WNK1 SLC25A46 MTM1 ABCA4 MGME1 SCYL1 AP4B1 CNTN1 ANO10 BRCA2 SOD1 RXYLT1 MFN2 SLC39A14 SLC12A5 DNM1L TYMP NDRG1 PROM1 JPH3 ARSI LRP4 BRCA1 EMC1 WDR81 DPM1 IMPDH1 SLC35A1 CNNM2 GAA KCNA2 TARS1 ZNF711 SASS6 PRCD COX15 PDE8B ATP8A2 TCTN2 STX16 OCLN CA4 GDI1 TTN ERCC2 PCARE GPHN HPRT1 KCND3 ATL1 PEX3 SNORD118 PYCR2 SAR1B AHR MFSD2A OPA1 DNAJC3 ACO2 GBA TRIP4 ADCY5 NDUFAF6 ATP6V1A TRPV4 ACTL6B FTSJ1 ALG11 CSF1R HADHA ABCA1 SLC29A3 LMOD3 TOPORS ATP1A3 RFT1 MYPN SCAPER CXorf56 KLHL41 CTDP1 WARS2 AUH HIBCH FANCF NTRK2 PEX6 PIK3R5 PITX3 RAPSN FANCG FUZ PTRH2 HTRA1 CA8 NDUFAF5 RUSC2 GRIN2A MARS1 FANCI APC2 PIGA CYP7B1 POLR3A SPG21 PNPLA2 PRKCG ATN1 CCT5 BIN1 GAD1 COX6A1 DOK7 PARK7 AMPD2 NOTCH2NLC TREM2 HACD1 DPYS POMT2 SLC19A3 SLC46A1 SCO2 IER3IP1 FAN1 NDUFAF4 TYROBP VPS33A AIMP1 CCDC88A TICAM1 TTR INPP5E EMD CACNA1S WDR62 GJC2 OCRL IDH3A USP27X PPP1R15B PGAP1 ATAD1 TK2 PMPCA PIEZO2 SPTBN2 RHO PSEN1 NDUFA1 RP9 PTF1A PCDH12 ADGRG1 NEFH RLBP1 CHRNE ACER3 TGM6 PQBP1 HEXB CTSF ATXN10 KDM1A PLCB1 WDR4 KRAS SPAST PPP3CA NDUFS3 LITAF PRPH2 ELOVL4 DES SYT2 LMNB1 DPM2 TULP1 SNRNP200 IFT88 GLRA1 MT-TE SCN9A MTTP IFRD1 STUB1 FKBP10 PRX FXN B3GALNT2 HSPB8 PYROXD1 SIK1 USP9X PRPF31 MRE11 BSND CIT AGRN PDE6A WDR73 PGM3 FUCA1 GABRA3 TUBA8 PDGFRB CAMTA1 CLCN4 NKX6-2 GNB4 FHL1 SLC13A5 RUBCN REEP6 KIAA1549 OTOG MEFV OSTM1 CD59 BRIP1 ADSL MED25 ATM REEP2 MLH3 MSH2 EXT1 AK9 MEGF10 COLQ ABAT GJA1 SDHB DYNC1I2 EGF RNF113A L2HGDH MT-TW CACNA1B AGBL5 KIF5A TIMM50 SEPSECS C4A CASK BEST1 RPS6KA3 EXOSC9 LRP12 BCS1L FANCA VRK1 DSTYK TRAPPC11 PNKP GEMIN4 ARHGEF2 TAF1 XRCC2 ABHD12 LDB3 BCAP31 ZSWIM6 FAM126A JPH1 KCNB1 GNE ACAT1 PMM2 ARL6 GTF2IRD1 MT-ND5 SDHD FANCB CDHR1 FAS DPM3 CNGA1 FANCM ETHE1 DHDDS SELENOI POMGNT1 NEK2 POMT1 SLC25A19 CYP2U1 MAK CLIP2 BBS2 PLAA ERAP1 TRMT5 MCM3AP TAF2 NEU1 DKK1 PMS1 ZNF41 KIF14 HLA-B EEF2 KCNK9 DDB2 PRKRA SYP NDUFA10 TUB MT-ND3 KIDINS220 SLC9A7 SBF2 SOX10 MT-ND6 RPS20 FGF12 LAMB2 CCDC88C NDUFA4 TIMM8A EIF2S3 ABCC8 FBLN5 SCN1B EYA1 DLAT PEX16 HSPD1 DCTN1 TRIM32 GLUL SCN3A NGLY1 CLCNKA HCFC1 KCNT1 DMXL2 IDH3B POMGNT2 MSTO1 ATP1A1 VAC14 SLC6A19 SBF1 MT-ND1 SLC39A8 PIGG RAB7A PNPT1 ADPRS ALG9 COASY FIG4 LRRK2 SLC12A6 TCAP GJB2 NFASC UBE3A MUSK TGFBR2 MED17 TRMU RPGR PLEKHG4 FANCD2 SDHAF1 AFG3L2 GLDC CEP63 POLG2 GCH1 HTRA2 TMEM240 BAZ1B NDUFS4 CAPN1 CLCNKB NONO COA8 JAG1 RGR UROC1 SPEG MYH7 CHRNB1 KLHL7 MPV17 AAAS TSEN15 ALG1 PDHA1 DHH FLII JAM3 MT-ATP6 CHP1 NDUFA9 CHAT TRIM37 LARGE1 PDXK ARL3 MT-TK LRAT PEX7 TBCD COG4 SUMF1 GABRA5 DPAGT1 PARN ATXN1 MCOLN1 SETD2 AARS1 NDE1 UBA1 BAG3 CRB1 ZNF81 GLE1 MPLKIP FANCL FBN1 PLEKHG5 COG7 LRSAM1 IL12A-AS1 SLC1A2 ECHS1 PRPH RAB39B ALG2 DBH PET100 KLRC4 NDUFAF2 WARS1 GCLC SNIP1 DENND5A TSEN2 L1CAM FTL CRX MID2 PRUNE1 RBP3 COL4A1 SZT2 ATL3 ZNF513 FOXRED1 ITPR1 RNASEH2B UBE2T SLC25A4 TFG COQ9 SPTBN4 ALG14 TBC1D23 NAGLU VLDLR SLC52A2 PRSS12 RFC2 SIL1 GABRG2 PRRT2 SNAP25 MYORG NDUFAF3 PRPF8 MCCC1 RNASEH1 ACOX1 ORAI1 GRIA3 XK LYRM7 ST3GAL5 VANGL1 MT-TL2 GFER AUTS2 ENTPD1 CENPJ YWHAG NRL PAX1 ACD CARS2 MTMR14 ATP7A SMPD1 MFF RMRP NR2E3 B4GAT1 KCNJ6 CPT1A NDUFA2 ALG6 ALDH3A2 ASCC1 TMEM67 KCNJ18 GMPPA PDSS1 ANKLE2 NSUN2 HCN1 HADHB SLC25A12 SLC25A21 SYNGAP1 CLRN1 PGAP2 ABCB7 FANCE SHANK3 PDGFB RFWD3 CTNNA2 SMN2 UPF3B SMG9 VPS13D GTF2H5 CAV1 MATR3 ARL2BP HSD17B4 ZFR SAMHD1 PEX26 GRIN1 CDK5 PRPF3 GTF2E2 GCSH MDH2 NRXN1 GPAA1 TAF13 MLXIPL CYP27A1 PCLO UGDH UBAC2 EXT2 EXOSC3 GJB6 TLR3 ABHD5 NDP AHI1 SAG GOSR2 ITGA7 AP3B2 TLR4 PANK2 PSAT1 RMND1 KATNB1 STXBP1 NUS1 PRKN TUBB2B GRIN2D FGD4 GTF2I FLI1 DEGS1 DHX38 KBTBD13 ALDH5A1 DNASE1L3 IL10 METTL5 SPR COG5 STAC3 ARV1 ASAH1 AGTR2 DARS1 SCYL2 CEP152 TH DLG3 FANCC GFM1 GABRB2 KIF1B ROM1 DAG1 TBL2 TUBGCP2 MT-ND2 FSCN2 LINS1 GRID2 IMPG2 MAP3K20 PGAP3 TINF2 AP1S2 FXR1 FDX2 HP_LYMPHANGIECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIECTASIS CCBE1 FAT4 ADAMTS3 MPI HRAS PIEZO1 SOX18 HP_ABNORMAL_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIBIDO NSMF TACR3 WDR11 CDH23 AIP KISS1 FGF17 TAC3 PROKR2 ANOS1 CHD7 GNRH1 HS6ST1 FGFR1 KISS1R DUSP6 MEN1 FSHB PROK2 GNRHR SPRY4 FGF8 HP_ACROMICRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMICRIA PWAR1 PWRN1 HERC2 SNORD115-1 NDN NPAP1 SNORD116-1 MKRN3 MAGEL2 SNRPN HP_ABNORMAL_EYELID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_PHYSIOLOGY FGFR2 TWIST1 CP PLA2G6 PANK2 MAPT ANO3 TOR1A CACNA1A CHN1 TCOF1 HSPG2 MAFB TBP CLCN1 PARK7 SCN4A KCTD17 SYNJ1 SALL4 FTL THAP1 ATP13A2 TUBB4A POLR1C STARD7 TAF1 AARS1 POLR1D FGFR3 HPCA DRD5 ATN1 HP_AGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGYRIA POMK POMT2 PAFAH1B1 FKRP DCX LARGE1 TUBA1A KIF2A CDK5 POMT1 FKTN TUBG1 DAG1 CRPPA HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION PANK2 SLC7A7 PCSK9 ABCA2 LDLR ANGPTL3 APOC3 APOB TMEM199 LPL TTPA NGLY1 SAR1B EMD APOA5 FHL1 MTTP LMNA SMPD1 CYP7A1 ABCG8 LCAT CEP19 TMEM43 ABCG5 CCT5 SLC25A13 MSMO1 APOE LDLRAP1 SYNE2 CCDC115 SYNE1 HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION APOA1 SLC7A7 APOC3 LMNA SLC25A13 ABCA1 LCAT CETP APOA5 SMPD1 PPARG CEP19 ALMS1 LIPC APOE HP_MICROGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGRAPHIA MAPT PDGFRB GBA FTL SNCA TBP ADH1C ATXN8OS PDGFB SNCAIP SLC20A2 NR4A2 GLUD2 ATXN2 HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY BMS1 GLE1 SLC39A14 LRP4 SGCD TCIRG1 CLCN4 SUCLA2 NEB KCNAB2 FANCL NARS2 NOTCH3 SIX5 MEFV ADCY6 IL12A-AS1 CTLA4 SOST BRIP1 RRM2B TK2 SIX1 RAB39B SLC52A3 SALL4 CHRND CHD7 ARHGEF6 DNA2 CCR1 TRPV4 CHRNA1 TPM2 GFPT1 RYR1 EXT1 POLG2 KLRC4 AGRN AK9 MEGF10 SLC5A7 WDR26 COLQ CCDC174 PRNP ARX AKT1 COL6A2 NLRP3 GAN IL1RAPL1 TFAP2A SCN4A SEMA3E POLG MYD88 COL13A1 MYMK ZC4H2 SLX4 GJC2 PABPN1 FKRP SDHD CHRNE COL6A3 C4A PEX1 NOD2 RPS6KA3 MID2 LRP12 FANCA CRPPA CLCN7 SELENON LAMA2 LRP5 SKI TNFSF11 SLC18A3 XRCC2 GMPPB TSPAN7 MTMR2 CNTNAP1 PLEC HLA-DPB1 UBE2T TNFRSF11A SUFU ANKH GNE SDHC PEX16 SPTBN4 ALG14 FANCB PEX11B NF2 FAS MYO9A PEX5 IL12A SLC52A2 FANCM ERCC4 SNX10 SMO ACTA1 PEX12 SNAP25 DPAGT1 DLL4 ADA2 BAP1 EYA1 SDHB PMP22 CHRNB1 SQSTM1 IL23R ERAP1 MGME1 DMPK CHKB BRCA2 PEX19 IQSEC2 DKK1 SMARCB1 COL6A1 SLC25A1 ZNF41 BRCA1 MEN1 PRTN3 TPM3 RERE DNAJB6 GSN SDHAF2 HLA-B ZNF711 MAD2L2 FKTN DNM2 SYP GDI1 ABCA1 MYPN SLC9A7 TTN CFL2 PTEN MPZ SYT2 LAMB2 SLC25A4 POMT1 MED12 PALB2 TUBB6 MTM1 MTMR14 AMER1 TRIM32 FANCE OSTM1 KLHL41 CAPN3 SH3TC2 VAMP1 RFWD3 ALG2 FTSJ1 UPF3B IDH2 HCFC1 PRDM16 TUBB3 LMOD3 PEX26 ANO5 PIK3CA NRAS CXorf56 SPEG FANCF PEX3 BTNL2 RAPSN FANCG SLC12A6 GJA1 MUSK CLCF1 SALL1 FANCI TNFRSF1A PEX13 UBAC2 FANCD2 CNKSR2 EXT2 DCTN1 MYH7 BIN1 YME1L1 CDH23 PTDSS1 DOK7 PDGFB POMT2 MECP2 TRAF7 PEX2 HLA-DPA1 SCO2 COL12A1 TLR4 REV3L ADSS1 RAD51 PTCHD1 ACSL4 DACT1 CRYAB TWNK TERT NEFL PLXND1 ACADS PTPN11 CHCHD10 USP27X KBTBD13 DNASE1L3 ESCO2 IL10 PEX6 VCP STAT4 HOXB1 ITGB4 KLHL40 ALG13 ASAH1 KY AGTR2 RAD51C FRG1 PAK3 LMNA PTPN22 CRLF1 FRMPD4 IDH1 SMCHD1 DLG3 FANCC CHAT PEX10 HMBS PEX14 LARGE1 DMD DES GABRD AIP LYST HLA-DRB1 PYROXD1 SMARCE1 C12orf65 USP9X TGFB1 UBA1 BAG3 PUF60 ZNF81 HP_DELAYED_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_WALK TANGO2 CSNK2B KMT2E SMARCD1 TRMT1 TRIO ATP6V1A STAG2 ATG5 SYT1 PPP2R5D MAPK8IP3 DPF2 FRMPD4 WDR26 PIEZO2 AMPD2 COL12A1 CPLX1 MRPS14 NDUFA1 FOXP1 FBLN1 CDK13 PUS7 TIMM50 TCF20 NEUROD2 WASF1 SLC9A7 AHI1 DHPS PIGC NCAPG2 PACS2 ZNF148 HERC2 GRIA4 TMEM94 TRRAP BRPF1 KDM1A RAB11B TRAPPC9 TNPO3 P4HTM EBF3 DYNC1I2 TRIM2 TMTC3 WDR4 YY1 SET COG1 ABCA2 NFASC ERLIN2 PPP2CA NDUFA12 RUSC2 SLC25A1 SLC5A7 PAK1 MBOAT7 HECW2 CAMK2A HUWE1 PRMT7 BRAT1 MTPAP DYNC1H1 FBXO11 RAI1 ASXL3 DOCK3 TBR1 AHDC1 CHD3 CWC27 MAGEL2 FBXL3 MPZ HS6ST2 MYO9A DHX30 SLC18A2 REPS1 FLVCR1 ZSWIM6 PCYT2 BCL11B KDM5B SLC25A42 KPTN PNPLA2 PIGG HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY LETM1 FGFRL1 EP300 CTBP1 NSD2 CPLX1 CTNNB1 CREBBP MNX1 TRAF7 PRMT7 HAAO PIK3CA KDM1A NELFA HP_SPASTIC_PARAPARETIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARETIC_GAIT AMPD2 KIF1A ARL6IP1 ATP6AP2 KIF5A FARS2 SLC39A14 FBXO7 HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL SNX14 TP53 FGFR2 GALT FUCA1 STK11 IRF1 TTC37 FBP1 MANBA KRT8 NEU1 MAN2B1 GK APC SMAD4 OCRL TKT MUTYH MIR140 KRAS KRT18 GALE PIK3CA SLC25A13 CASP10 GALK1 ERBB2 KLF6 RPIA HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL SLC25A15 UMPS BCKDHB SLC7A7 ASL PCCA RET TAT KIF1B HMGCL BCKDHA ARG1 UROC1 ASS1 ALDH5A1 HPD PCCB ACADM MVK DBT PAH HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING SRSF2 CBL IL12A HLA-B LPIN2 IRF5 MYD88 GBA BIRC3 BMPR2 PARN BACH2 TSC1 SMPD1 CAV1 CSF2RB FASLG TET2 SFTPC MEFV ABCA3 C4A IL12A-AS1 CASP10 CTLA4 UBAC2 FAS PDGFRA TERC IL10 IFNGR1 RASGRP1 SFTPA1 STAT4 IL23R RAB27A FAM13A STN1 ERAP1 DSP RTEL1 FOXP1 CCR1 CSF2RA SFTPB MALT1 CCR6 SFTPA2 ASXL1 KLRC4 HLA-DPB1 HLA-DPA1 PTPN22 TSC2 TLR4 APOE PRKCD TERT ATP11A RUNX1 DPP9 CCN2 MUC5B PRTN3 BCL10 ASAH1 HLA-DRB1 HP_DIMINISHED_ABILITY_TO_CONCENTRATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_ABILITY_TO_CONCENTRATE ERF POLG HERC2 TREX1 TWNK HP_HETEROPHORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROPHORIA SCN8A HOXB1 TBX1 KIDINS220 AFF4 TRAPPC11 HACE1 HP_HETEROTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTROPIA GBA NALCN PIGY SLC6A8 TMEM231 PDE6H MPLKIP VAMP1 GRM1 TCTN3 NGLY1 SLC38A8 FGFR3 MC1R AMMECR1 COL6A2 CLP1 CNGA3 TGFB3 PWAR1 CPLANE1 EMC1 GTF2H5 TUBB3 ZEB1 CHMP1A COG8 GRHL2 GNA14 NEUROD2 ADD3 ARHGAP31 LGI4 GALC WARS2 SLC17A5 SLC5A7 PHGDH LAGE3 ADNP COL12A1 NPAP1 P4HTM ATOH7 BCORL1 GTF2E2 ATRX RNF113A SLC35A2 ALG9 CACNA1A GLRB COL13A1 COL6A1 ZC4H2 UBE3A PTRH2 RNASEH1 MYF5 NTNG2 UNC80 PHOX2A BCOR CYB5A HADHA MBD5 DNMBP COL11A1 SALL2 KDM6B KDM1A NDN ADAT3 COL4A1 ZSWIM6 HERC2 SCO2 NEXMIF ATAD3A MAGEL2 ATF6 PMM2 NONO SOST COL8A2 SNORD115-1 PIGV TBC1D23 TYR MYO9A TMEM216 CHST3 AGRN FAM149B1 SNAP25 PPP2R5D SOBP PEX5 PDE4D SNRPN RORA ACADSB SEC23A LYRM7 DPP6 TMEM67 ADGRG1 HOXB1 KIF7 ERCC3 OCA2 PIGO CDC42 SLC25A46 KIAA0753 SOX5 TAF2 TENM3 CRB1 APC PIGL MRPS34 PUF60 TGFBR2 SYT1 CRIPT TBX1 PDE6C MKRN3 ERCC2 SLC25A1 OVOL2 RERE IRF2BPL ZEB2 RRM2B CNGB3 TARS1 B3GAT3 SNORD116-1 PRPS1 DDOST COL6A3 AHCY CHAT FBN1 PIGW KCNMA1 KIDINS220 SLC18A3 PWRN1 USP7 HUWE1 PIGN PIGT RPL10 EFNB1 RPGR AHDC1 VSX1 OFD1 HMGB3 TGFBR1 GNAT2 DPAGT1 GRID2 CYB5R3 IARS2 BLOC1S3 KIF21A PYCR2 SYT2 PGAP3 NR2F1 SON SMAD3 PGAP2 PDE6D TRIT1 HP_FOCAL_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA COL4A1 NPRL3 NPRL2 CNTNAP2 TSC2 MTOR NUP133 TSC1 DEPDC5 HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II NPRL3 TSC2 MTOR TSC1 DEPDC5 HP_HYPEREOSINOPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREOSINOPHILIA NLRP1 CARD9 TRAC SPINK5 EXTL3 HP_UNUSUAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION CCDC39 KMT2D SMARCAL1 NHEJ1 RAG1 DSG1 ELP1 IL17F BLNK BACH2 SGSH ARID1B PTEN STAT3 CD19 DNAH1 AICDA MEFV EYA4 CTLA4 TERT BRIP1 GATA6 FOXN1 FLI1 ATRX MED25 TTC37 FGFR3 ATM RSPH3 LAT CCR1 TYK2 TTC7A C6 BPTF HAX1 GAS8 DGCR8 GRHPR COLQ COL11A2 BCOR ORC6 DCLRE1C TBX1 GBA RNF113A ICOS SETBP1 IRF2BP2 TF ESS2 BSCL2 LMNB2 BCL2 GINS1 SLX4 CLDN16 MECP2 INSR GLB1 CSF2RB INPPL1 CD3G AGA CCDC65 HGSNAT C4A SERAC1 OFD1 MNX1 CD40 EXOSC9 SLC39A8 FCGR2A FANCA ABCA12 DGCR6 NCF4 ARSB LYST TPP2 RAG2 NECTIN1 ORAI1 XRCC2 IGHM DNAAF4 OCRL WAS ERCC2 AGPAT2 CFB TNNI3 TINF2 MAGEL2 SCNN1B GTF2IRD1 CLPB FANCB FAS SNORD115-1 IL2RG RFXANK RAC1 TBCE SEC61A1 FANCM TAP1 CD3D FOXJ1 AGRN PIK3R1 PRDM12 WIPF1 RPGR GANAB CORO1A TRAF3IP2 DPF2 EP300 HPSE2 JAGN1 TGFB1 CD3E DNAL1 VANGL1 ALG13 EXTL3 SIN3A NCF1 SNRPN GATA2 CLIP2 COG6 IFNG SFTPC RSPH9 GLIS3 STAT1 IL23R PLEKHM1 CFH ERCC3 ERAP1 FOXP1 ITGA3 PSTPIP1 PCGF2 ATP6V0A2 LEP BTD BCR AKT1 TGM1 CRIPT SRY CCDC40 WFS1 NEK10 CREBBP DNAI2 PLG PKD1 CFD UGP2 COL6A1 DNAJC21 SLC25A1 IGLL1 CHRM3 CD8A STX1A DNAJB13 EDARADD NSD2 HLA-B CYBB RMRP LEPR TRIO IL2RB MAD2L2 CHAMP1 FOXP3 IL12RB1 PRKCD BTK MYH3 ARL3 SMARCE1 DGCR2 ALPL SLC18A3 NR2F2 NKX2-1 NAA10 PWRN1 RYR1 CR2 CCNO RPL10 MAGT1 BLM CFTR IGKC IL2RA ARID2 SLC7A7 SLC35C1 CAVIN1 NFKB2 CCDC114 TPM3 ADA LRRC56 HLA-DRB1 PEPD KIAA0556 DLX4 GRHL3 IFNGR1 BCL11B NBN L2HGDH C3 CTC1 POLR3A PALB2 LIPN THOC6 SDR9C7 ASAH1 DNAAF6 CRELD1 RNU4ATAC COL13A1 DHCR7 MGP MCIDAS IL17RC PSAP SLC1A4 NGLY1 MANBA ALB SMARCD1 POLA1 ALMS1 C1QA GUSB SMN1 CD79B CFAP221 CYP4F22 STK36 PLOD1 SLC7A9 C4B WASF1 PRF1 GMNN HYOU1 TNFRSF11A MALT1 ELANE COG4 SCNN1A CD40LG NME8 HOXA13 UBE3B SELENON LBR CEBPE MC2R CFAP298 SMPD1 LRIG2 ALG12 IL21 BCL10 PRKDC TNFRSF13C NXN GALNS COG1 ZBTB16 CTPS1 GJB2 ANTXR2 MAP3K7 NAGLU HELLS MAN2B1 CTSC RASGRP1 FLT1 SMARCB1 SP110 RSPH1 ARMC4 POMP LAMTOR2 NHLRC2 FANCD2 IKBKB MBTPS2 PTPRC TCIRG1 IKBKG MS4A1 MTHFD1 ADAT3 PLCG2 PTPN22 BAZ1B TCF3 DNAH11 SAMD9L ATP7A APRT KCTD1 EFL1 SBDS DLG1 CD247 FLNA GFI1 TNXB IRAK4 RAD51 DNAAF2 TBK1 HYAL1 ATN1 PCNT PSMB9 DNAH5 LIG4 NFKB1 TP63 PSEN1 CCDC151 EPG5 SLC25A22 WDR34 XIAP KIF15 GNPTAB UROC1 WDR26 IRF3 NPHS1 CRKL ZMYND10 COL6A2 AIRE STAT4 GAS2L2 CDCA7 DISC1 PRPS1 ERF RFX5 HYDIN RELB ADAMTS3 TICAM1 RAD51C CDH23 SCN9A FOXC2 SH2D1A PGM3 CDC42 SLC3A1 POLE LRRC6 IL12A TNFRSF13B IL7R MYL2 TRAIP CCDC22 WDR1 PSENEN SNORD116-1 ALOX12B IL10RA DDOST TRPS1 PARN CHAT CTCF UBB PIK3CD TTC25 CARD11 CXCR4 MASP2 IL6ST TBC1D24 TBCD CSPP1 HBB ITK KIF20A CD27 CASP8 CLCN7 CLDN19 SCNN1G TNFSF12 SPINK5 C7 RPL11 TNFSF15 FAT4 KDM6A IDUA IRF6 DOCK8 CCDC47 SPAG1 LIMK1 MPLKIP BIRC3 FANCL CD79A STAT5B MYO5A NOTCH3 ELN IL12A-AS1 SLC6A19 DPM2 PWAR1 MESP2 CD81 PNP ZAP70 WRAP53 DNAAF1 CLCA4 DNAH9 DYRK1A BRAF LRBA RSPH4A SOX11 TNNT2 KLRC4 SMARCD2 SLC5A7 KIF1A ACVRL1 AGXT ROR2 FADD SHANK3 CACNA1C CYBC1 MRAP SRCAP VPS33A HSPA9 TLR3 MYD88 MYSM1 TOP3A IL21R TMEM70 COL6A3 CORIN AP3D1 NUMA1 KIAA0586 C1R COL2A1 TFRC NDN MAPK1 LAMA2 EXT1 TNFSF11 UNG GALC SCN10A FOS CISD2 CCDC103 PLEC HLA-DPB1 RFXAP UBE2T BNC2 SCN11A CSF3R VPS45 NPM1 USB1 PPARG SLC2A1 C5 TBC1D23 DLL3 EFEMP2 STAR MYO9A SPIB RFC2 ERCC4 PSMD12 ACTA1 SRP54 SNAP25 TSC1 IRF8 NCF2 ZNHIT3 ZBTB24 STIM1 NABP1 B2M FUCA1 SKIV2L GRIA3 GATA4 CFI FERMT3 ARPC1B MGME1 C1QC PKD2 MED13L BRCA2 NELFA TBL1XR1 NSUN2 JAK3 MYPN IDS DDR2 C8A ECM1 STK4 ITCH NFKBIA BRCA1 PRTN3 IFNGR2 DNAI1 ZEB2 SLC35A1 SOX4 GAA TARS1 SULT2B1 WDR19 DEAF1 PLP1 ARID1A A2ML1 CFAP410 TCTN3 FCN3 CAV1 CLEC7A IL17RA SF3B1 CCBE1 CDH1 SLC52A3 MMEL1 PSMB4 CIITA TET2 DNAAF5 STOX1 IRF5 RAB27A LCK UMPS USP9X RUNX2 SYT2 LAMB2 DNAAF3 FLNC SON ISL1 TECPR2 EOMES FANCE CYBA VAMP1 SLC46A1 SMARCC2 G6PC3 KAT6B NOP10 RFWD3 SHROOM4 UNC93B1 CTNNB1 SLC39A4 RIPK1 UNC119 SETD2 SAMD9 GTF2H5 GLI3 PML SLC29A3 C8B FBLN5 GNS NFE2L2 DCTN4 FANCF ADNP NPAP1 P4HTM SLC26A2 CFAP300 RAB3GAP2 GTF2E2 NRAS NLRP3 SH3KBP1 ZNF341 BCL6 SPEF2 MSN MCM4 CARD9 FANCG TRAC YY1 NIPAL4 MLXIPL TAZ LETM1 FANCI TNFRSF1A IKZF1 UBAC2 ACP5 RARA TPM2 CARMIL2 UBE2A EGFR DNMT3B TAPBP RTEL1 ATP6AP1 GJB6 SNX10 CSF2RA SMARCA4 AK2 KCNJ6 FIP1L1 HACD1 TNPO3 TXNRD2 ITGA7 ALOXE3 HLA-DPA1 HERC2 LRRC8A IER3IP1 TSC2 TLR4 HPS6 TRIP4 FMO3 ARHGAP29 NOTCH2 DRC1 BICC1 ENG RBCK1 GTF2I PRKAR1A DNASE1L3 TK2 IL10 ISG15 SLC37A4 RNF168 MBL2 POU2AF1 EHMT1 TBX6 VPS13A FCGR3A NNT TTC12 MKRN3 SDCCAG8 IFIH1 PCYT1A TERC TAP2 WASHC5 GOT2 STING1 FANCC FBXL4 TBL2 CACNA1B CD70 BMP4 ITGB2 MSX1 HLA-DQB1 NHP2 SLC35A2 RPS14 NDE1 C1QB CD55 FLVCR1 SIK1 MAP3K20 KPTN BCHE DKC1 TRIP11 IFNAR2 USP8 AP3B1 KRAS HP_SACCADIC_OSCILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_OSCILLATION SNX10 VPS13D TCIRG1 TNFSF11 KIF1B CLCN7 SLC6A3 SLC35A2 HP_KERATOSIS_PILARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOSIS_PILARIS SOS1 KDF1 SHOC2 KRT16 NRAS LRP1 MBTPS2 BRAF GJA1 WNT10A KRT86 KRT83 KRT81 HP_JOINT_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SUBLUXATION IDUA MMP2 FLNB COL2A1 TNXB GALNS COL1A1 COL1A2 RMRP ADAMTS2 DDR2 XYLT1 GLI3 B3GALT6 PUF60 GLB1 HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE NLRP3 CYBB CYBC1 RFXANK TBK1 BCL6 CYBA IL12A CR2 PRF1 HLA-B CARD9 TLR3 LBR BCL2 ENG BLNK WIPF1 RAG2 MEFV CD79A STAT1 FOXP3 NCF2 TMEM70 WAS CD19 BTK VANGL1 C4A IL12A-AS1 CTLA4 SLC6A19 DNASE1L3 CXCR4 UBAC2 IRF3 IL10 IGHM ATRX TCF3 TFRC CIITA PIK3R1 IKBKG NCF4 IGLL1 CARMIL2 STAT4 C8B PTPN22 IL23R NCF1 XIAP C4B CFI ERAP1 BCL10 HYOU1 CCR1 NDE1 RFX5 TNFRSF13C IL2RG HLA-DRB1 KLRC4 CD40LG HLA-DPB1 RFXAP ACVRL1 SH2D1A HLA-DPA1 L2HGDH LRRC8A CFB TLR4 C8A RAG1 C5 CD79B ICOS JAK3 FAS PRTN3 TNFRSF13B HP_SEVERE_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INFECTION RAG1 CD27 PTPRC RAG2 CD3E IL7R CD3D CD247 CTPS1 HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL ALB RFXAP RFXANK CIITA TF RFX5 PLG HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION IL2RA SLC34A1 KCNJ1 PIGH MICOS13 SYNJ1 RAG1 DSG1 INSR ELP1 FRG1 FKRP ADCY3 TSFM CLCN2 TIA1 CRPPA NF1 PLAU GPR35 TK2 APOC3 SLC9A3R1 CYP11B2 GNA11 DMD GLA PIEZO1 RHAG LAMA2 NEB NDUFS3 VPS13A FAM111A AP1B1 MOCOS FHL2 INS RPIA ALAS2 GSR XRCC4 ESS2 CLCNKB BSCL2 CPS1 GNAS LMNB2 MYH7 HNRNPA1 FTL CASK POMGNT1 CSF2RB ACADVL SARDH PAX8 ABCG8 SERAC1 AQP2 ATP5F1D TNNT2 CFTR NBAS COA7 CLCN5 SLC25A11 AP1S1 MMP1 MTTP GHR DGUOK EBP MICU1 MYH14 UFD1 COL6A3 NDUFAF3 TMEM126B HNRNPA2B1 TBCE SDHD SEC61A1 PLA2G6 GPC1 SGCA DLST TMEM199 PCCA MTR LMBRD1 HBB GANAB PEX2 ATP7B AIFM1 B3GALNT2 DEAF1 GNAS-AS1 TAF1A PYGM FKTN WNK4 LBR ITGA3 CACNA1S NDUFV1 PEX5 PDHX ATP6V0A2 USP8 DMPK TTPA CAP2 LEP UQCRC2 PCK1 KCNE1 MRPL3 CFHR1 OTC POLG PKD1 SMCHD1 PREPL ACAT2 PRSS1 ACADM SCN4A UNC93B1 DNAJB6 CAPN3 DNMT3A LEPR HMGCL ANGPTL3 FOXP3 HINT1 IL12RB1 MT-TL1 POMT1 TANGO2 PRDX1 DGCR2 ALPL PHEX NDUFB3 APOA2 PIGN KCNA1 PYGL ACAD9 ANO5 MAT1A TTN GFPT1 MMUT MT-TF MTRR PEX10 KIF1B NDUFS7 PAH NLRP12 CAMKMT GMPPB ACTA1 VHL SDHB NAGS SLC34A3 LTC4S COL6A2 ALMS1 EPHX1 MT-ND3 AVPR2 APOE ISCA1 GCDH MYOT PTPN22 AP2S1 HLCS CD247 TBCK MYF6 TNFRSF11A PRKCSH PLOD2 GDNF RREB1 CAD SELENON PEX7 C1QBP SMPD1 VMA21 ABCD1 PEX3 PC PRDM16 WNK1 ALG12 HAL MEN1 NDUFS1 POMK COL4A3 FLT1 DMGDH COL12A1 ACADL DGAT1 MMACHC TMEM165 APOA5 LDLR SNTA1 ANKRD55 SEMA4A TWNK KYNU COG2 FLAD1 SLC36A2 CCBE1 TRAF3 BCKDHA CDC73 TRAPPC2L SDHA SLC2A9 UBR1 SMAD4 PFKM GP1BB HPD MIPEP SLC12A3 MVK REN GLYCTK PDK3 GALT PGAP2 SLC6A8 PSMB9 SLC17A5 C3 BMPR1A RAG2 HLA-DRB1 MT-TN HADHB UMOD XIAP PSEN2 MT-TP MIF SCN5A UQCRFS1 STXBP2 HRAS UROS AKT2 DOK7 KY ADAMTS3 ACSF3 CDH23 STAT4 NDUFS4 GNPTAB OAT TNFRSF11B LMNA DYSF SLC16A1 TBX1 SLC25A15 ITGA7 IL12A MPC1 CYP27B1 MYL2 APPL1 MECP2 COQ8B PRPS1 PHKG2 MT-ND4 SGCG NR3C2 DHCR24 KRT18 VCP HNF1A SQSTM1 ENO3 HSD11B2 NDUFB9 WDR19 PHKA2 NDUFA13 SCNN1G CBS MT-TV SLC25A38 SLC25A26 HPRT1 CETP CACNA1D SLC4A1 LACC1 CYP11B1 CALM2 TDP1 APOB GALE AMT TNFSF15 MCCC2 FAT4 SLC30A9 POMT2 CFHR3 OSGEP NUBPL LIMK1 ALDH4A1 SUCLA2 PDX1 PSEN1 LPIN1 NARS2 MAGI2 SLC22A5 KLHL9 NOTCH3 DNM2 ELN NADK2 DPM2 RRM2B ABCC2 SYNE2 CACNA1C EPB41 HSD3B2 C19orf12 HADH NSDHL NDUFV2 PLG FHL1 PHGDH SPINK1 LRP6 LIPE SYNE1 PRSS2 WDR4 SCN10A UGT1A1 LMAN1 MYMK GCH1 AGL GCM2 NDUFB10 HAVCR2 CDKN1C CORIN SLC40A1 CA5A TMPO APTX AR FOS PTPRO HFE RAI1 PLEC DCAF17 HLA-DPB1 PPARG TOR1AIP1 GLRX5 HNRNPDL ANK1 PEX11B PCCB ATP8B1 AP5Z1 PRF1 INPP5K HAND2 MMAA CAV3 PEX12 SGPL1 MOCS2 B4GALT1 CRYAB STEAP3 ARNT2 TMEM43 BVES ITGA6 GALK1 IRF6 SKIV2L TPM2 G6PC PDGFRB STIM1 SUCLG1 STAT6 NEUROD1 VDR MGME1 CHKB NT5E RXYLT1 CTRC CCND1 RYR1 PRTN3 IL2RB TMPRSS6 WDR35 CCDC115 DPM1 CNNM2 GAA FECH PTS ETFDH BMP2 PLVAP HJV STX16 AHCY NUP107 LCAT ABCB4 ACAD8 ARG1 PIK3C2A CAV1 ABCB6 MMEL1 PSMB4 DAG1 CIITA RET STOX1 IRF5 GPHN PPM1B TRMU CTNS PCBD1 DSG2 SLC2A1 HAMP SAR1B HNF1B GLUD1 COL7A1 KCNE2 SPTB PGM1 MPI SEC63 SCNN1A CSF1R TAZ EGF TCAP HADHA SAMD9 PTEN DBT ABCA1 CPA1 SLC29A3 LMOD3 TXNRD2 SCNN1B CYP2R1 HSPG2 PANK2 PNLIP NPPA FLNC SLC25A20 KLHL41 TUFM FKBP14 MPO BLK SDHC CYC1 AKR1D1 PIK3R5 VCL NR0B1 CPT2 MT-TI AFP SGCB FGFR1 FBN1 COQ7 ALDOB TNFRSF1A ABCC8 GNE PNPLA2 TRPV4 SPTA1 EPAS1 PPP1R17 TFR2 SLCO1B3 SNX10 HACD1 ETFA TNPO3 MYO5A PNPO PKD2 FBP1 SCO2 ANK2 SLC52A1 TRIP4 VPS33A NNT TICAM1 BAG3 EMD LIPT1 KCNJ5 OCRL PIGT MC2R MMAB DHCR7 PIEZO2 PSPH SLCO1B1 LDLRAP1 RNF168 CASQ1 KCNH2 NEFH POU2AF1 MYPN LARGE1 SLC25A13 HNF4A INVS ACTC1 TKFC SLC3A1 KLF1 VIPAS39 FTCD TMEM127 COL9A3 SGCD GOT2 COL6A1 NDUFAF1 FBXL4 TRIO NLRP3 GUCY2D HMBS CEP19 MAX PLA2G7 LIPA PUS1 PYROXD1 EIF2AK3 TKT BTD SLC25A42 TALDO1 BSND SLC6A20 GATA1 WDR73 MT-TK TET2 GABRA3 GATM PLIN1 CASR BCS1L POMGNT2 FAN1 B4GAT1 KCNN4 OSTM1 CTLA4 TNNI3 NEFL FGF23 TYMP TTC37 ATM FXYD2 TRIM32 CHD7 DOLK DNA2 MAD2L2 SLC6A19 IL6 POLG2 MCEE DGCR8 CFH TCF4 ALB NPHS1 CFI SLC7A7 SLC35A2 SLC37A4 L2HGDH SEMA3E CCN6 ACTN2 PDSS2 PKLR GALNT3 MT-TW CIDEC CLDN16 CHCHD10 INPPL1 KLHL3 NRAS STX11 TBX19 RSPO1 DES FLCN LRP12 PSAT1 PSMB8 LAMA4 DMP1 DGCR6 MST1 TRAPPC11 NDUFS6 SLC39A14 NPHS2 SLC2A2 UNC13D TP53 AGPAT2 ACAT1 PMM2 GTF2IRD1 MT-ND5 COG8 TPM1 NDUFS8 NPC1 GPIHBP1 SLC22A12 DPM3 PIGY CPT1A MUC1 DNMT3B NEBL RBM20 CLIP2 COG6 COMT SIL1 CLCN7 RAB27A NDUFS2 TFAM ENPP1 PTH NOS3 HIRA KCNQ1 PEX19 GCK PGAM2 TJP2 CYP24A1 MDH2 G6PD MKS1 PAX4 ACOX2 ADAMTS13 RFXANK CCT5 HK1 SLC12A1 MT-ND6 RPS20 LAMB2 SLC26A3 MYC BCKDK CAVIN1 TPM3 ZMPSTE24 PDHA1 ALG8 MMADHC ACTN4 IFT122 DYRK1B NSMCE2 CDKN2B POLR3A MTO1 SLC33A1 BCKDHB GLUL NAB2 ANKRD1 NGLY1 MYBPC3 KRAS CLCNKA TDP2 CDKN1B MSTO1 ATPAF2 GPX1 KCNJ18 PLA2G4A MT-TE MT-ND1 UBE3B GATAD1 COQ2 ATP1A1 SLC39A8 PHKA1 CYP17A1 THBD TNNC1 KCNJ11 SLC30A10 CFB GPD1 PEX6 KCNJ2 SPR TCIRG1 HCFC1 CYP11A1 BIN1 MC4R GLDC PLCE1 BAZ1B PCSK9 KRT8 GK LRP5 ASS1 PPCS GYPC CDKN1A CTNNB1 CUL3 ADSS1 JAG1 FAH UROC1 PTPN2 NDUFA6 MPZ MPV17 SLC52A2 FH BTNL2 ABCB11 NOS1 NDUFA1 NDUFA11 FLII LDB3 TBK1 CSRP3 KCNE3 IGFALS DLD ADK TBCD ABCC6 COG4 ATP6V1E1 APOA1 DPAGT1 CLDN19 KCNJ10 TAT NUP133 CTH NEXN SETX EPHX2 EPB42 MT-ND2 KLF11 RAF1 COG7 PABPN1 PNPLA8 PNP LIMS2 CP DBH BAAT AEBP1 ATP5F1A AGXT NDUFB11 TMTC3 MRAP HSD3B7 SLC6A18 GYS2 CD46 LIPT2 TIMMDC1 NDUFAF8 HLA-DQA1 TMEM70 ASL FAM20C MTHFR CYP7A1 PEX1 ARVCF NFKB2 FOXRED1 IQSEC2 COL4A1 TNFSF11 LAMP2 VPS33B NDUFAF4 NR1H4 MET QDPR COQ9 USB1 PEX16 CDKN2C ALG14 COL10A1 HLA-DQB1 STAR PRODH SPIB RFC2 NLRC4 MCCC1 FOXP1 PLEKHG5 RNASEH1 MEF2A ORAI1 B2M MSMO1 XK JMJD1C TRNT1 MT-TL2 GFER UCP2 A2M CLDN10 ALG2 GNPTG GNMT MTMR14 NDUFAF2 RMRP LTBP4 AIP ABCC9 CFL2 DCLRE1C POMC TRPM6 CPOX SEC24C NSUN2 TRMT10C SLC25A4 FTH1 NDUFAF5 SDHAF2 PGK1 ASPA PHYH MATR3 PEX26 NOS1AP CALM1 POGLUT1 MAGED2 GCSH RFXAP CYP19A1 CARD9 FARSB NPC2 TF PRKAR1A MLXIPL MT-ATP6 CYP27A1 IGF1 PEX13 AKAP9 UBE2A APOC2 TLR3 CSF2RA ABHD5 ISCU MOCS1 GOSR2 HLA-DPA1 PLN CNBP FAM111B AASS ITGB4 ATP6V1A BICC1 ETFB CRLF1 LPL SC5D TMPRSS15 RBCK1 GTF2I FLI1 KIF23 NUP214 KBTBD13 ALDH5A1 IFNGR1 SH2B1 INHBA TMEM260 SLC6A3 DUX4 APP LAMA1 TRDN ABCG5 FN1 LIPC ABCD4 ITPR3 MYO1E ABCA2 PDE4D DNAJC19 TBL2 POLD1 PEX14 NR3C1 CA12 CEL SCN4B RFX6 PTH1R ARHGDIA GATA3 LDHA TFG BTK SARS2 CD55 MAP3K20 MYH6 RFX5 AMACR SPATA5 MCFD2 SLC30A2 COL3A1 FDX2 HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION ASPA NGLY1 PNPT1 ALDH5A1 RPIA HP_HYPOCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIA SLC25A38 SLC11A2 UMPS GLRX5 STEAP3 HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION PEX14 PEX5 BCS1L PEX11B PSAP PEX10 PEX12 HBB SLC22A5 PEX16 PEX2 STEAP3 GM2A PEX1 PEX13 PIGA PEX6 SLC30A10 PNPLA2 HEXA PEX26 ARSA CP PEX3 PEX19 HEXB GLRX5 MCOLN1 CCDC115 HP_ABNORMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLISM ERCC5 ATP6V1A SUCLA2 PGM1 TMEM199 MMAA MTR ATP6V0A2 TTR LMBRD1 MPI GUCY2C SIM1 ALG3 CLCN5 ALG11 ALG13 MMAB CASP10 CTNS EPHX1 DPM2 RPS10 COG6 RASGRP1 SLC30A10 COG5 GPR35 DDOST DPM3 CBS RFT1 FKTN VDR STT3A CBLIF BAAT ENPP1 TTPA UCP2 ACSF3 MCEE CAD SRD5A3 CCND1 STT3B SLC39A8 GALK1 ERCC2 TCF4 ALG1 ERCC3 TJP2 MMUT ABCD4 CCDC115 SLC35A2 CYP27B1 DPM1 CCN6 FARSB BCO1 COG1 CUBN MGAT2 ACOX2 KCNJ11 TAT ALDOB FASLG CYP7A1 PRDX1 ABCC8 FAS MMACHC AGA MST1 HCFC1 MTHFD1 ALG6 COG4 GALT SLC2A2 ATP6V1E1 DPAGT1 DOLK COG2 SSR4 CYP2R1 MAN1B1 LRP5 OCRL SAR1B ERCC4 MTRR RPL11 ALG8 SLC52A1 MMADHC PRKCD PMM2 COG8 SLC34A3 DMP1 HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY DOCK8 SMARCAL1 CASR GLB1 ATRX TERT MPLKIP NHEJ1 RAG1 PSEN1 STS BLNK MYH7 JAK2 RPS28 ARHGAP31 FANCL MVK POT1 CD79A STAT5B RAF1 LIG4 OSTM1 LAMTOR2 SH3GL1 CASP10 CTLA4 GSS TNNI3 PDGFRA RPL5 BRIP1 ERBB3 RUNX1 PCCB KRAS FOXN1 ASAH1 ELANE CD81 PNP THPO DYNC2LI1 RAG2 WRAP53 CBL ADA2 STAT3 TTC37 ABL1 FUT8 ATM TRNT1 CHD7 NRAS MTRR DOLK DMD LRBA TTC7A MAD2L2 NUP214 SLC17A5 HAX1 SMARCD2 MYD88 EVC SPINK1 ACVRL1 TNFRSF13B PALLD HLA-B CDKN2A BCOR TP53 DCLRE1C SLC7A7 CALR FLT3 FHL2 RNF113A ICOS SETBP1 IRF2BP2 SH2B3 CYBC1 PRSS2 SEMA3E XRCC4 KIT ACTN2 DOCK6 GINS1 MT-TW TET2 MYSM1 SLX4 PCCA PALB2 LACC1 OTULIN CASK FASLG CD3G BRD4 HAVCR2 TREX1 SMAD4 STX11 AGA IL10RB AP3D1 BUB3 LIPA DES CD40 NUMA1 DLL4 LAMA4 FANCA BAX NFKB2 MYH9 TFRC SPINK5 FANCI TMPO NCF4 TNNT2 CFTR RPL11 LYST CHIC2 TPP2 XIAP RBPJ DOCK2 SGCG EVC2 FIBP XRCC2 SCN10A DLX3 MPL PTPN22 IGHM TNFAIP3 FAS TBX2 SPP1 RNASEH2B CXCR4 HLA-DPB1 RFXAP UBE2T WAS ARHGAP26 UNC13D SRP54 SCN11A TINF2 CSF3R CLN3 F13A1 VPS45 NPM1 APOE BCR ACAT1 CARD11 USB1 CLPB TPM1 FANCB TAL1 IL2RG NPC1 RFXANK SEC61A1 PRF1 CEP57 LPIN2 FANCM ERCC4 CD3D FCGR2B MYPN FANCE HAND2 PIK3R1 WIPF1 MMAA SGPL1 LMBRD1 HBB CORO1A TONSL NCF2 EP300 JAGN1 CD3E VANGL1 NEBL EXTL3 NCF1 TAF1A NABP1 NLRP1 RBM20 GATA2 IFNG STAT4 GFI1 RMRP CLCN7 FUCA1 SKIV2L ERCC3 FERMT3 RAB27A ARPC1B RPS27 RPS7 IVD TTI2 NEU1 NLRP3 DNMT3B ENPP1 NOTCH1 CAP2 DKC1 LEP BRCA1 ADAR BRCA2 ZBTB24 IFIH1 CTRC TBL1XR1 KLHDC8B NSUN2 JAK3 CREBBP SBDS DNAJC21 STK4 ITCH PRSS1 RPL35A ACD IGLL1 IRAK1 BUB1B PRTN3 CD8A UNC93B1 CYBB TCIRG1 SLC35A1 G6PD TARS1 FANCG LEPR HMGCL RPS17 SMPD1 FOXP3 RTEL1 VPS13B LMNB2 RNU4ATAC PRKCD PRDX1 RNASEH2C ABCC9 SF3B1 MSH6 TERC PHEX CCBE1 RECQL4 PMS2 BUB1 PSMB4 CIITA AK2 MAGT1 BLM RPL31 MLLT10 RPL15 CR2 IL2RA MYC LCK TAL2 SLC35C1 ADA DSG2 BCL11B MMUT NBN GATA1 CTC1 RPL27 PMM2 TNFRSF1B STAT1 NLRP12 CYBA CAPN3 RPS24 SLC46A1 G6PC3 FKTN ANKRD1 NOP10 RFWD3 MLH1 SALL4 MYBPC3 RARA TAZ TCAP UNC119 TBXAS1 PIGL ETV6 TDP2 SAMD9 COG4 CPA1 RPS26 GTF2H5 PML SLC29A3 LPP TXNRD2 ADAM17 SCARB2 RPL26 SLC27A4 HYOU1 RPS29 CEBPA CD19 CD4 CD40LG GATAD1 FANCF SAMHD1 LBR CEBPE TRIP13 VCL RPS10 PRDM16 GTF2E2 TCN2 MSH2 HTRA2 TNFRSF13C FANCC ZNF341 MSN CD28 TNNC1 CARD9 TRAC NPC2 ZBTB16 CTPS1 IL7R HELLS MAN2B1 CTSC IKBKG RASGRP1 RB1 SP110 TNFRSF1A IKZF1 PDGFRB FANCD2 MMACHC ACP5 PTPRC ZAP70 MTHFD1 UBE2A TFR2 TCF3 ATP6AP1 TLR3 ABHD5 TRAF3 FIP1L1 ASXL1 SAMD9L SDHA CBFB HLA-DPA1 LRRC8A PPCS GBA PLN EFL1 DMP1 GNB1 CD247 PIGA FMO3 TYROBP IRAK4 RAD51 RAC2 VPS33A TREM2 PICALM TICAM1 RPS15A BAG3 ENG PSMB9 NFKB1 PTPN11 PRKAR1A EPG5 MECOM PTEN MMAB CRYAB PSEN2 MS4A1 IFNGR1 NUTM1 SLC37A4 RPL18 SCN5A CDCA7 SRSF2 MEFV STXBP2 DNMT3A CYP26C1 RFX5 TSR2 ADAMTS3 APC RAD51C PACS2 ACTC1 GLI1 SCN9A BTNL2 SH2D1A PGM3 FTCD ERCC2 CD79B ABCD4 LDB3 TBK1 PIK3CA WDR1 ERCC6L2 SGCD CSRP3 KIF11 STING1 FBXL4 PARN EOGT PIK3CD GPI RPL35 RBM8A DNASE1 DDX41 IL6ST ITGB2 TNFSF12 RNASEH2A NHP2 HLA-DRB1 RPS14 CD27 RPS19 EIF2AK3 BTK SARS2 TTN NF1 MYH6 TGFB1 FCGR2A FAT4 NEXN F13B AP3B1 BLOC1S6 FDX2 HP_INCREASED_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_PRESSURE PLIN1 SMARCAL1 GDF2 LIMK1 SDCCAG8 ELP1 TSC2 FMR1 CPOX ARHGAP31 GNAS MT-CO1 SH2B3 LYZ CLCN2 NF1 NOTCH3 ARL6 EDA2R ELN APOA1 CTLA4 CC2D2A MLX FGFR2 TJP2 GBE1 GPR35 ADA2 MT-TC MMP14 MTRR BANF1 GLA MT-TK MT-TL1 CCR6 GPC3 CYP11B2 ERCC8 TRIM32 CFH ACVRL1 COL3A1 LRP6 TCF4 XYLT2 CFI CALR ITGA8 SLC37A4 SUGCT GBA DOCK6 CD46 ECE1 WT1 WRN CLDN1 KLHL3 BBS4 THPO SDHA POU6F2 ABCG8 CORIN NFIX PDE8B RPGRIP1L NOD2 ARVCF DLL4 INVS PRKAR1A RET MST1 ADD1 AGT RBPJ F5 SLC25A11 SCNN1A TRIM28 MT-TQ OFD1 B2M TNFRSF11B ARMC5 HLA-DPB1 PPARG EDA TP53 CYP3A5 BNC2 ALX4 LMX1B NPHP1 ACAT1 ACTA2 GTF2IRD1 SDHC UFD1 ENPP1 GATA5 LEMD3 MYH11 HGD SDHD SPIB RFC2 IRF5 KCNJ5 LDLR ERCC6 DLST REST CAV1 GANAB BBS10 SMAD3 TET2 MT-TW STN1 MUC1 POU3F4 DGUOK SDHB ERCC4 BBS9 CD2AP LMNA CYP11B1 MEF2A MMP2 CLIP2 COL4A3 COMT HPSE2 BBS2 XYLT1 PRKACA JMJD1C GLIS3 SMAD4 VANGL1 G6PC DCDC2 WNK4 DIS3L2 TMEM70 HBB MAFB LZTFL1 MT-TS2 PKD2 USP8 NOTCH1 HIRA TRIP13 DNAJB11 FBN1 GNB3 TGFBR1 CFHR1 PKD1 ITCH SCN2B PRTN3 NR3C2 WDR35 MDH2 DNMT3A ALMS1 JAK2 IQCB1 MKKS YY1AP1 IL12RB1 LARS2 AIP TBX1 TGFBR2 SPRY2 ABCB6 MMEL1 MTTP MYLK ABCC6 TRAF3IP1 COL5A2 STOX1 H19 FGA TMEM67 SEC24C MAX MT-ND6 KIF1B ACTN4 HSD11B2 DYRK1B BMPR2 PDE3A MT-ND1 TTC8 MGP NOTCH2 VHL SDHAF2 MYMK NPHP3 PIGM TGFBR3 KCNMB1 SMAD6 TRPC6 CCDC28B TMEM127 TNFRSF11A SCNN1B BBS5 NEUROG3 APOB GDNF RREB1 TMEM237 MT-TE FH TGFB2 MT-CO3 GPR101 CYP17A1 BRCA2 THBD WNK1 LRIG2 FIG4 CEP290 HLA-DRB1 XPNPEP3 CCND1 FARSB MKS1 FUZ MT-CYB MT-TV SLC2A10 PRKG1 COQ7 MLXIPL FLT1 SERPINA6 AGTR1 SP110 CFB AVPR2 HLA-B NKX2-5 EGFR MC4R EPAS1 PTGIS GCH1 BAZ1B NSMCE2 PCSK9 KRT8 TNPO3 WDPCP APRT HLA-DPA1 MPL SHPK COL4A5 KCTD1 GP1BB THSD1 BBS12 FMO3 CYP21A2 CUL3 NPHP4 NOS3 PKHD1 BICC1 COL4A4 BSCL2 NR3C1 INPP5E C3 MT-CO2 MT-TF IFT27 GTF2I STAT1 PAM16 MFAP5 LOX IL12B SLC30A10 LDLRAP1 MYH7 BBS7 POU2AF1 TGFB3 CBS CEP164 ADAMTSL4 CDH23 COL5A1 BTNL2 CACNA1D PTPN22 ABCG5 FN1 BBS1 IL12A PHF21A CACNA1H POR MT-ND5 ENG PDE11A EXT2 COL1A1 GUCY1A1 EOGT TSC1 TBL2 HMBS C8orf37 FOXF1 CEP19 KRT18 VAC14 GJA1 SCNN1G BBIP1 ANGPTL6 MAT2A IDUA IFT172 WDR19 ZMPSTE24 TNFSF15 FOXE3 CCN2 NFU1 CFHR3 OSGEP HP_ABNORMAL_GRANULOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTE_COUNT SMARCAL1 RNU4ATAC CBL CAPN3 ATRX MPLKIP RAG1 SLC46A1 G6PC3 BLNK RPS28 PIK3R1 MVK CD79A STAT5B LAMTOR2 CASP10 GSS PDGFRA TERT PCCB IGHM ETV6 TDP2 ELANE COG4 RAG2 GTF2H5 PML STAT3 FUT8 ADAM17 MTRR PRF1 SLC27A4 HYOU1 LRBA MAD2L2 CD40LG HAX1 SMARCD2 LBR DOCK8 RUNX1 BCOR GTF2E2 TCN2 RNF113A ICOS NRAS HTRA2 IRF2BP2 FANCC ZNF341 RFXAP MSN LIG4 CARD9 TRAC GINS1 MT-TW TET2 ZBTB16 IL7R MYSM1 PCCA KIT IKBKG RPS7 OTULIN TAZ FASLG STX11 AGA AP3D1 PDGFRB FAS CD40 MMACHC NUMA1 ZAP70 RARA TFRC GFI1 SPINK5 FANCI UBE2A LYST ADA TFR2 BCL11B EXTL3 FIBP TLR3 TRAF3 FIP1L1 ASXL1 CXCR4 PNP WAS UNC13D SRP54 LRRC8A CSF3R DCLRE1C VPS45 NPM1 CARD11 USB1 CLPB EFL1 SBDS CD247 FMO3 IRAK4 RFXANK FOXP3 SEC61A1 MMUT FANCD2 TICAM1 CD3D FANCE WIPF1 MMAA LMBRD1 PRKAR1A TONSL STAT1 JAGN1 MECOM CD3E MMAB SLC35A1 RAC2 NABP1 NLRP1 GATA2 RASGRP1 IFNG CIITA SLC37A4 RMRP SRSF2 ERCC3 DNAJC21 RAB27A RPS17 RFX5 PACS2 VPS13B BTNL2 TBL1XR1 PGM3 ERCC2 STK4 ITCH CD79B CHD7 HBB IGLL1 ABCD4 UNC93B1 SAMD9L TCIRG1 TBK1 WDR1 TARS1 FANCG IL2RG FBXL4 RPL18 PRDX1 RBM8A SF3B1 TERC IL6ST RECQL4 TCF3 AK2 FANCA HLA-DRB1 SLC35C1 EIF2AK3 BTK GATA1 RPL11 PRKCD RPS19 RPL26 AP3B1 FDX2 KRAS HP_REDUCED_FORCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FORCED_VITAL_CAPACITY FKRP MYH7 ACTA1 SLC25A21 COL6A2 RYR1 SELENON BAG3 TPM3 TPM2 CRPPA HP_ABNORMAL_GROWTH_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GROWTH_HORMONE_LEVEL GH1 BAP1 STAT5B TERT SMO ADAT3 MEN1 AFF4 PNPLA6 ARNT2 POU3F4 HESX1 ALMS1 THOC2 SIN3A SNRPN PWAR1 SLCO2A1 LEPR GLI3 PROP1 CDKN1B TMEM67 IARS2 GPR101 CHD7 TBCK GMNN BTK PIK3CA SMC1A DMPK UCP2 VPS13B ZNF148 SMARCB1 GLI2 LHX4 AIP NPAP1 MKRN3 WASHC5 AKT1 FOXA2 RBM28 TMCO1 PCSK1 POMC KMT2A SOX3 CEP57 SEMA3E RNPC3 BSCL2 WDR4 GNAS SNORD116-1 YY1 PRKAR1A MARS2 FLNB STX16 PDE4D KCNJ11 CDKN1C SHH ABCC8 CAV1 POLR3A IGF2 TBCE LHX3 GHSR NFKB2 PWRN1 NDN FANCI RFWD3 PREPL POLE CDH23 PDGFB SLC7A7 OTX2 FOS EIF2S3 SMARCE1 HPGD TBX2 TRAF7 KIAA0556 TP63 SLC29A3 DCAF17 SRD5A3 HERC2 SUFU AGPAT2 CDKN1A MAGEL2 PMM2 CDKN2B PPARG CAVIN1 CDKN2C NF2 POU1F1 PITX2 SNORD115-1 ADNP HP_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACIDEMIA MCEE L2HGDH CCN6 PRDX1 MMAB ETFDH MMADHC SUCLA2 ETFB MMACHC MMAA MMUT LMBRD1 DNAJC19 ABCD4 GCDH HCFC1 ETFA PAH ACSF3 HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA ARFGEF2 ZSWIM6 ERMARD ARF1 NEDD4L FAT4 DCHS1 HP_SUBCORTICAL_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_HETEROTOPIA TUBGCP2 KIF2A TUBG1 EML1 LAMB1 CRPPA PAFAH1B1 FAT4 DCHS1 HP_PULMONARY_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CYST FLCN PRKAR1A SFTPC ABCA3 FAM13A STN1 DSP RTEL1 PTEN TERT ATP11A TERC PARN DPP9 TTC7A MUC5B SFTPA1 SFTPA2 AKT1 HP_ABSENT_SPERM_FLAGELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SPERM_FLAGELLA TTC29 CFAP43 ARMC2 SPEF2 CFAP251 CFAP44 DNAH1 FSIP2 QRICH2 HP_SHORT_SPERM_FLAGELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_SPERM_FLAGELLA CFAP69 TTC29 CFAP43 CFAP251 CFAP44 DNAH1 FSIP2 QRICH2 HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS SCN9A GABRA1 SCN2A GABRG2 PCDH19 SCN1B TWNK STXBP1 POLG SCN1A VAMP2 HP_GENERALIZED_ONSET_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_MOTOR_SEIZURE GAMT SMS TANGO2 EFHC1 HACE1 MT-RNR1 MT-TL1 KCTD7 GLB1 CHD2 DMXL2 SDHAF1 PDX1 ALDH7A1 ABCC8 KCNQ2 STXBP1 DNM1 SDHA SAMD12 GBA NGLY1 PRICKLE1 SLC6A1 NUS1 SLC25A22 PRDM8 PIGT KCNJ11 MT-TP ARHGEF9 ALDH5A1 SCN1A DPM2 MT-TQ BRAT1 CACNB4 GCK CPLX1 LNPK GABRG2 GABRA1 NDUFA1 ADGRV1 STAT3 PIGP SLC25A15 ZFP57 PCDH12 KCNQ3 EPM2A JRK NHLRC1 CDKL5 HCN1 MT-TK CLCN2 SCN9A DHDDS ASAH1 SLC9A6 BTD GNAO1 CILK1 PSAP GABRD ACSF3 CARS2 MT-ND1 PHGDH SIK1 SCN2A ARX SDHB MT-TF MT-TH MT-TI CASK PCDH19 PIGQ PNKP DOCK7 MT-TS2 CAMK2A MT-ND4 CUX2 KCNT2 AFG3L2 STX1B PLAGL1 MT-ATP6 GRIN2A INS KCNA1 GRN TBC1D24 MT-ND3 AP3D1 ELOVL4 AP2M1 PIGA MBOAT7 MT-TW TBCD MT-ND6 MT-ND2 GABRB3 RPL10 COG2 MT-ND5 MED13 MT-TV GALC NEUROD2 MFSD8 TMX2 HYMAI TRIM8 SCN1B MAPK10 PCYT2 BUB1B NEXMIF IER3IP1 NDE1 SPATA5 TRAPPC9 SDHD TRIT1 SLC12A5 HP_FOCAL_NON_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_NON_MOTOR_SEIZURE EPM2A PHGDH PACS1 RELN NHLRC1 PRRT2 MICAL1 CNTN2 LGI1 KCNA1 NGLY1 GLI3 HP_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONIC_SEIZURE GABRA1 CASK TANGO2 PCDH19 PIGQ PNKP DMXL2 DOCK7 KCNQ2 STXBP1 DNM1 NGLY1 SIK1 SCN9A GRIN2A SLC25A22 PIGT KCNA1 ARHGEF9 SCN1A CDKL5 GABRG2 TBCD CHD2 GABRB3 CUX2 PIGP RPL10 CLCN4 COG2 ADGRV1 NEUROD2 GNAO1 TRIM8 MAPK10 ARX SCN2A SCN1B HP_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SEIZURE GAMT SMS TANGO2 EFHC1 HACE1 MT-RNR1 MT-TL1 CSNK2B KCTD7 CAMTA1 GLB1 TMEM231 CHD2 SDHAF1 PDX1 ALDH7A1 ABCC8 DNM1 SDHA SAMD12 GBA NGLY1 PRICKLE1 SLC6A1 NUS1 SLC25A22 PRDM8 PIGT KCNJ11 MT-TP ALDH5A1 SCN1A EXTL3 DPM2 MT-TQ BRAT1 GCK CPLX1 LNPK GABRG2 NDUFA1 ADGRV1 STAT3 SLC25A15 ZFP57 PCDH12 STXBP1 EPM2A NHLRC1 CDKL5 HCN1 MT-TK SCN9A DHDDS ASAH1 BTD CILK1 CARS2 MT-ND1 PHGDH SIK1 GABRD ARX SDHB MT-TF MT-TH MT-TI GABRA1 PCDH19 MT-TS2 CAMK2A CLCN2 MT-ND4 CUX2 KCNT2 AFG3L2 STX1B PLAGL1 MT-ATP6 INS GRN TBC1D24 MT-ND3 AP3D1 ELOVL4 AP2M1 PIGA MBOAT7 MT-TW MT-ND6 MT-ND2 GABRB3 MT-ND5 SCN2A MT-TV PSAP GALC MFSD8 HYMAI SCN1B PYCR2 CACNA1D MAPK10 BUB1B NEXMIF IER3IP1 NDE1 SPATA5 TRAPPC9 SDHD TRIT1 SLC12A5 HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA SCN9A GABRG2 SCN1B GABRD SCN1A ADGRV1 HCN1 SCN2A STX1B HP_INFECTION_RELATED_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFECTION_RELATED_SEIZURE GPT2 CHD2 DMXL2 APP STXBP1 EFHC1 GABRA1 SLC6A1 KMT5B GABRG2 SCN1A SRPX2 CACNB4 POGZ HCN1 GRIN2A ADGRV1 PIGP VPS11 SCN9A STX1B KCNQ3 JRK DYRK1A CACNA1H CLCN2 NFIX GALC CILK1 GABRD AUH HERC2 CPLX1 WDR26 GNAO1 SCN2A GABRB3 ACADM SLC25A22 CASK PCDH19 PIGQ AP4S1 PNKP RSRC1 SIK1 CPA6 KCNA1 TBC1D24 SETD5 MBD5 AP2M1 CDKL5 MBOAT7 TBCD KCNJ6 COG4 RPL10 RNU12 SLC35C1 KCTD7 NEUROD2 GLS HS6ST2 TRIM8 SCN1B MT-TK SLC2A1 KCNQ2 ARX ERLIN2 MAF SLC12A5 HP_ABNORMAL_URINE_PH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PH GATM MICOS13 SCO1 GRHPR ALDH4A1 SUCLA2 SLC36A2 DHTKD1 NGLY1 CLCN5 OCRL TACO1 CASR ERCC5 NADK2 CTNS SLC6A19 GSS PCCB HOGA1 PET100 NAGA GCDH TRNT1 SLC7A9 RRM2B HLCS HADH MCCC2 ASL PLOD2 SLC25A20 ATPAF2 XPC FAH AUH MCEE MT-ND1 AGXT COX10 HPD GCLC MMUT SLC7A7 AGK CYP27B1 HAL SLC25A1 TCN2 HTRA2 HIBCH GCSH L2HGDH IDH2 CPS1 SLC6A18 SUGCT PEX1 PCCA COA8 KIF1B HMGCL TAZ ALDOB TMEM70 MTHFR MT-ATP6 TIMM50 COX8A LDHD FARS2 SLC19A2 ACADL SERAC1 HNF4A MARS1 MMACHC NEU1 OPLAH ATP5F1D HCFC1 SLC2A2 GLDC SLC1A1 GEMIN4 FLAD1 ETFA MOCS1 TNFRSF11A MT-TN SLC25A4 ATAD3A ACAD9 SLC52A1 MT-ND5 CLPB MVK HGD ACSF3 GLYCTK GALT PRODH PREPL SLC52A2 ETHE1 ETFB MCCC1 COX6B1 MMAA MTR TK2 ACADS MOCS2 LMBRD1 XPA ERCC3 COX14 ATP7B EHHADH DGUOK MMAB ALDH5A1 POLG UROC1 LMNA SLC34A1 BCS1L D2HGDH COA3 SLC6A20 SUCLG1 IVD PEX5 FH ARG1 OAT DNAJC19 TNFRSF11B SLC3A1 CD320 OTC FTCD OPA3 ACADM ABCD4 MPC1 SLC35A1 ETFDH DDB2 MT-ND4 RET GUCY2D MT-TL1 KYNU PRDX1 MT-ND3 ACADVL CPT2 MT-TK MT-TW ERCC2 MT-ND6 MT-ND2 ATP5F1E COX20 GPHN UMPS CBS MT-TV PPM1B SLC25A19 TAT SPINK5 CYP2R1 ZMPSTE24 DMGDH ERCC4 ACAD8 MTRR BTD GALE AMT MMADHC CTH MRPS2 SLC25A21 SLC26A1 CAMKMT HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY ABCA3 SFTPB SLC7A7 SFTPC CSF2RA CSF2RB MARS1 HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM STAR MRAP RNF43 PTEN ZFHX3 EPHB2 BMPR1A STS NAB2 NR5A1 KEAP1 GREM1 APC RAD50 TP53 RAD51D RAD51C SRY FLI1 PRKAR1A MAP3K1 MXI1 MC2R CHEK2 ZFPM2 IGF2 MAD1L1 WWOX AR CDC73 NR0B1 DMRT3 RNASEL VAMP7 MRE11 CDKN1B CDH1 EWSR1 GNAS STAT6 BRIP1 DHX37 DICER1 WT1 NNT KLF6 TXNRD2 AKT1 GATA4 BARD1 SOX9 BRCA1 STK11 NBN BRCA2 RAD51 PALB2 HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM CDH1 POLD1 AKT1 DOCK8 PLA2G2A PIK3CA MLH3 CEP57 MLH1 PTPRJ TP53 BUB1B KLLN BMPR1A NAB2 FH GREM1 DCC EP300 PMS2 STK11 RAD54B FLI1 SDHB PTEN MCC SLC6A17 PRKAR1A MSH6 FGFR3 BUB3 CXCR4 CDC73 CTNNB1 BUB1 NTHL1 RPS20 PDGFRL AURKA USF3 CDKN1B AXIN2 DLC1 SEMA4A NRAS SDHC STAT6 TLR2 POLE DMPK MSH2 MSH3 CCND1 FLCN ODC1 SRY TRIP13 BAX SRC APC SEC23B SDHD PTPN12 HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE EPAS1 CIZ1 MDH2 RET TOR1A SDHD DNMT3A PINK1 PARK7 LRRK2 SNCA HTRA2 SLC25A11 DLST SDHB SDHAF2 VHL DRD2 NF1 SPART SDHA SDHC FH TP53 PODXL VPS13C MAX KCTD17 KIF1B TMEM127 SYNJ1 UCHL1 PRKN DNAJC6 SGCE HP_ABNORMAL_FACTOR_IX_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACTOR_IX_ACTIVITY VKORC1 F9 GGCX MGAT2 PMM2 HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE HMBS BLVRA PYGM SLC6A19 UROS TSC2 GPC1 VPS13A ABCC2 STAT4 TSC1 GATA1 IRAK1 DMD SPP1 HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND TSHR SLC26A4 PAX8 NKX2-1 NKX2-5 FOXE1 TCOF1 POLR1C POLR1D KAT6B ADAMTSL1 NSDHL GLI3 HP_MORTALITY_AGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORTALITY_AGING GLE1 GLI3 BCS1L LIMK1 PHGDH GLUL PSAP TSFM PEX16 PMS2 SUOX RNASEH2C EPCAM LTC4S GPC3 SLC26A2 OSTM1 ELN FLNB RPS6KA3 COASY GDF5 MYH11 CLCF1 CPT2 ATRX BOLA3 RNU4ATAC MYLK ERCC1 MRPS22 HSPG2 RNASEH2A PEX1 DNM2 HYOU1 TRIP11 PEX5 NRAS NSDHL MLH3 DSP MSH2 TUFM ACTL6B LAMC2 MBTPS2 ABCB11 PEX6 SIK1 PEX26 ROR2 NAXD STT3B NDUFB11 POLG ABAT FKRP HDAC6 DCX PHOX2B HESX1 EYA4 RARS2 CACNA1C HRAS RET HTRA2 TNNT2 PEX19 CALM1 GCSH NXN CST3 LMOD1 CASQ2 MYL1 FGFR3 SCN5A PEX10 FLI1 GPC4 LAMA3 MLXIPL HMGCL FRAS1 TAB2 TGFBR2 TMEM70 FREM2 FAM20C TRDN PQBP1 FARS2 SNRPB NADK2 NFIX EMG1 ANTXR2 PIGA OGDH ERCC5 KLHL7 PEX12 GLDC SLC35D1 WDR11 VPS33B BAZ1B UBR1 CALCRL CENPF ASCL1 MESP2 TSPYL1 GNPTAB ASXL1 ETFA CRTAP OCRL SMOC1 PRPS1 NEK8 SMO CDON REV3L GTF2IRD1 PIK3CA ARX ROBO1 SOST RMND1 HADHA FAN1 LBR DLL3 PEX14 ITGB4 MYH7 TTN MYLK2 CRLF1 AIMP1 PIP5K1C PEX3 PKHD1 RFC2 PEX11B PLEC ETFB SLC17A5 PLXND1 SLC9A6 ZMPSTE24 GTF2I ERCC6 LIPT1 NDUFAF3 GPR161 RYR2 AKAP10 HYLS1 ACOX1 LAMB3 MUSK ITPA ITGA6 ESCO2 BRAT1 ATP7A CLIP2 COG6 ERCC2 SCN4A POLG2 PTF1A GLB1 BMPR1B TSEN54 VPS13A TMEM260 TFAM CNTN1 ACTB PTH1R TECRL NDUFA2 COL2A1 MSH6 PMS1 GRIP1 DNM1L TYMP ALG1 MYO5B SCO2 SCYL2 MYH6 LMNA MLH1 WASHC5 CAV3 EPG5 CCDC22 PROKR2 KRAS ALMS1 ETFDH COL11A1 KLHL40 TBL2 NAXE FLNA FOXF1 RBM8A PEX13 ALPL DPM2 APP GALT SLC25A22 ACTG2 RAB27A INTU GBA SLC25A19 DOLK LHX4 EIF2AK3 JUP IDUA AMT PEX2 SMAD3 LIPA CD96 AARS2 HP_CHROMOSOME_BREAKAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOME_BREAKAGE PALB2 FANCC BLM FANCA BAP1 FANCL FANCD2 PDGFB FMR1 FANCE PIK3CA TERT SMO RAD50 SMARCE1 TRAF7 SMARCB1 ERCC4 SUFU BRCA1 AKT1 BRIP1 BRCA2 NF2 FANCI RNF168 HP_PROMINENT_COCCYX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_COCCYX COLEC11 TAF1 COLEC10 TBX15 MASP1 SH3PXD2B HP_FINGER_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_CLINODACTYLY TWIST1 CCDC8 FANCE SHANK3 ABCC8 RNU4ATAC GDF1 LIMK1 PIGH YWHAE GPC4 KCNAB2 KAT6B WDR35 CEP152 STAG2 PAFAH1B1 FANCL TCTN3 PTEN GDF5 RBM8A RFWD3 A2ML1 LMBR1 TCF4 AMMECR1 MAPK8IP3 GPC3 LIG4 RRAS2 ELN ARID1B TBX1 SRCAP BRIP1 DPAGT1 WIPI2 ATR ATRX TBX5 AMER1 NIPBL HOXD13 B3GLCT RAI1 PRDM16 FZD2 IFT122 GJA1 GATA6 KMT2A ORC6 BHLHA9 CANT1 DHPS CHRNA7 DSP EMG1 HOXA13 SEMA3E UBE3B TELO2 FANCF ROR2 HMGA2 BMP2 KCNK4 HOXA11 BMPR1B CHD7 TRIP13 RSPRY1 PIEZO2 IGF2 GATA4 SMC3 MACROH2A1 TFAP2A SHOX FGFR3 NXN TP63 BLM USP7 FGD1 FANCG WDR4 HDAC8 RERE DONSON CKAP2L IHH MRAS SLX4 NEK1 ESCO2 TBX15 MLXIPL CDKL5 L1CAM RBBP8 BCOR FLT4 SALL1 MECP2 SNRPB AFF2 NUP37 FANCI RAD21 MCTP2 KCNJ2 IGF1 BUB3 PIGN GABBR2 FANCD2 ORC1 FANCA LMX1B KDM6B KDM1A NRAS JAG1 MAPK1 MASP1 IQSEC2 SKI SPECC1L SLC2A10 OBSL1 RAB23 PCNT NAA10 BAZ1B EVC2 XRCC2 UBR1 UBE3A NIN DLX3 NKX2-5 CBL OFD1 CPLANE1 EXT2 NTNG1 ZFPM2 SHH NOG FGFR2 LEMD3 UBE2T SMOC1 TBX4 FGF10 REV3L SMC1A NONO GTF2IRD1 MECOM COG8 TRAPPC9 KPTN SOS2 STAG1 PNPLA6 FANCB NKX2-6 CENPE MAF RAD51 RNF216 DACT1 CEP57 MBD5 FANCM RFC2 ERCC4 ACVR1 FAM149B1 PLXND1 EIF4A3 GTF2I WDR19 CCNQ XRCC4 IFT52 EP300 ALX3 DVL1 RASA2 STXBP1 DEAF1 CUL7 ATRIP BRAF CLIP2 CRKL COG5 PIGL GMNN KCNJ11 TCF20 KIF7 SLC9A7 KIAA0753 KLF13 IFT43 CENPJ BCR RAD51C PQBP1 PACS2 PUF60 BRCA2 AKT1 CEP55 DVL3 KRAS NSUN2 EBP CREBBP ANKRD11 ORC4 TRRAP PITX1 LMNA CITED2 TBC1D24 BRCA1 BUB1B SOS1 XYLT1 DYM SIM1 FLII TRPV4 SETD5 LZTR1 MAP3K7 PACS1 PTPN11 C12orf57 GATA5 RAB18 TRPS1 MAD2L2 WNT5A MED12 COL11A1 TFAP2B FANCC PLK4 PPP2R1A YY1AP1 SH3PXD2B TRIO VPS13B TBL2 TGDS CTCF TMEM216 HIC1 RAF1 FLNB CDC45 CHSY1 EFNB1 GJA5 CDC6 GABRD POLA1 BUB1 PTH1R EVC SATB2 BRAT1 PIGS RPL10 ABL1 RIT1 TRAIP RUNX2 HDAC4 CDT1 BMP4 RRAS ALX1 NPR2 MAN1B1 CUL4B ZC4H2 RB1 SLC26A2 PALB2 PDE6D CD96 HP_DECREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADIPOSE_TISSUE PLIN1 CAV1 BSCL2 TARS1 LMNB2 MPLKIP CIDEC INSR ERCC6 LMNA SLC25A24 TOP3A FBN1 ATP6V1E1 ZMPSTE24 PPARG TGFB1 POLR3A ERCC4 NAA10 PSMB8 KCNJ6 AGPAT2 GTF2H5 SLC2A2 PTF1A ERCC3 FOS IGF1R FH RBM28 ERCC8 SKI ERCC2 LIPE CAVIN1 GTF2E2 RNF113A SOX18 HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY POLR1A SMARCAL1 CTBP1 GLB1 PHF6 TCIRG1 KCNAB2 ARHGAP31 ARID1B PTEN COMP CLCN5 SOX9 LMBR1 TCF4 GPC3 TP53 FGFR2 BRIP1 TRPV4 COL2A1 TP63 TMEM138 IFT80 MED25 DYNC2LI1 RAG2 FGFR3 BPNT2 LTBP3 GJA1 LRP5 CHD7 KMT2A PPIB GLA WDR35 CC2D2A MYH3 EXT1 ATP7A EMG1 B9D1 FGFR1 HDAC6 ORC6 SETBP1 MMP13 SLC35A2 ATP6AP2 ROR2 SEMA3E PIGQ RPGRIP1 RAB33B INPP5E PIEZO2 GNAS HDAC8 GBA BBS2 RMRP KCNH1 TCTN2 SLX4 NEK1 ESCO2 NFIX WRN DVL1 INPPL1 RAD21 CEP290 MBD5 SLC26A2 ARL3 COL11A1 GABRG2 FANCA MMP9 WDR60 TRIP11 KLHL7 FBXO11 CHUK RAB23 TCTN1 EVC2 XRCC2 TNNT3 TMEM67 WDR19 TENT5A OFD1 GDF5 CRTAP ARL13B WNT5A SCN1B DCLRE1C MAGEL2 CEP104 COG8 UFD1 LETM1 FANCB KIAA0586 MEGF8 SNORD115-1 CTC1 SH3PXD2B TBCE FLNB FANCM FKBP10 GPC4 ZMPSTE24 TONSL C12orf57 EP300 COL1A1 SUMF1 ARMC9 ANKH EXTL3 SNRPN PDE4D MMP2 COMT POR WDPCP PEX5 PIGP CRPPA SIL1 TWIST1 BMPR1B PLEKHM1 NPR2 PLAA MAFB ATP6V0A2 NANS ENPP1 NOTCH1 HIRA BCR CEP41 PTH1R RETREG1 AKT1 SRY DOLK CPLX1 CREBBP GNAO1 HPGD WDR34 ATRX MATN3 EZH2 NOG NSD2 MKS1 TRPS1 PEX2 MAD2L2 GRIP1 UFSP2 FGD1 GATA4 SPART HINT1 SCN9A DYNC2H1 FBN1 KCNA1 SMARCE1 ALPL CHSY1 PWRN1 USP7 HUWE1 PIGN PIBF1 IHH COL1A2 ARID2 SCN2A SLC35C1 TNNI2 CDC45 XYLT1 IGF1R FAT4 NALCN ERCC5 PRKAR1A TAPT1 IFT122 CDC6 RECQL4 TPM2 POLR3A PALB2 PDE6D ASAH1 HOXA13 CCN6 ABCC9 CCDC8 RNU4ATAC DHCR7 GPC6 MGP SC5D STXBP1 TCTN3 EIF2AK3 NGLY1 MAPK8IP3 SMARCD1 TGFB3 NUP188 GUSB CCDC28B PIGL SHOX CPLANE1 B3GALT6 AMER1 B3GLCT TUBB3 SALL1 PRDM16 FZD2 WASF1 POMGNT2 KIAA0825 LMNA GMNN IFT52 HOXD13 BHLHA9 CANT1 COL11A2 TNFRSF11A PLOD2 RREB1 LAS1L DDRGK1 IFT140 UBE3B BMP2 GABBR2 MKKS TMEM216 EOGT RSPRY1 ALG12 GLI3 PSAP GABRA1 NXN LIG4 GALNS DONSON COG1 P3H1 MAP3K7 TBX15 MAN2B1 SMARCB1 ALOXE3 EED PPP2R3C KCNJ2 FANCD2 PRG4 COL10A1 ADA FLNA CCBE1 SHH SMOC1 TBX4 EBP GP1BB ARX POMT1 SBDS RPL13 ERCC1 RAD51 CERT1 PCNT ADAT3 SMC3 COL9A1 HYLS1 MUSK CHST3 CRKL EXOC6B ZBTB20 ECEL1 SF3B4 EXT2 PIGV TBX22 KAT6B RAD51C PUF60 NKX3-2 TBX1 TBL1XR1 TBC1D24 POP1 CD96 POC1A CYP27B1 SETD5 PNKP BMP4 IL2RG SNORD116-1 BBS1 CUL7 SERPINF1 MGAT2 GPX4 ARL6IP6 CDT1 CTCF PEX7 GABRD RET POMT2 CSPP1 CLCN7 AHI1 ZSWIM6 KIF7 CYP2R1 CUL4B HSPG2 TGFB1 GTF2E2 SLC34A3 TBX3 RPS6KA3 PPM1D GLE1 CCDC47 TMEM231 FMR1 B4GALT7 MYBPC1 TRAPPC2 FBN2 FANCL AFF4 DDX59 ARL6 LARGE1 CTSK SCN1A PWAR1 MET CEP55 ATR PORCN ADGRV1 SMC1A KIF14 CHRNG FGFRL1 MMP14 GDF6 SALL4 RUNX2 CDKL5 ACAN SOX11 AEBP1 EVC TELO2 IFT172 WDR26 DCHS1 SLC25A22 SMARCA2 PITX1 KDM5C HSPA9 DOCK6 FLI1 NF1 PIK3CA C2CD3 MIR140 ARVCF DLL4 NDN MAPK1 MASP1 HBA1 MYH8 SKI SLC35D1 RBPJ FIBP WNT7A TRAF3IP1 UBE2T LMX1B PEX1 ADAMTS2 ACTB NUP88 TMEM237 TTC21B RBM10 RIPK4 PHEX ERCC4 DMXL2 INPP5K ADAMTS10 SLC39A13 SRP54 DHCR24 GORAB FUCA1 MYCN JMJD1C CEP120 WNK1 ACVR1 VDR ERCC6 GHR BRCA2 NELFA DVL3 SYT1 RXYLT1 NSUN2 TRRAP DDR2 KIF22 BRCA1 FGF9 DYM IDUA CDH11 DLX5 PCDH19 SOX4 GNPTG B3GAT3 SON ARID1A CFAP410 PIK3C2A EFNB1 B4GAT1 PTHLH SATB2 PIGS TFAP2B USP9X INTU HDAC4 SEC24C NEUROD2 FN1 MECP2 TMEM107 HADHB PRMT7 RAG1 TMEM38B LIFR FANCE PHGDH SMARCC2 SMO RBM8A RFWD3 PSAT1 CIBAR1 HADHA SLC10A7 FBLN1 NIPBL SAMD9 COG4 CHD4 PHYH CENPE CHST11 SCARF2 UBE2A FANCF NPAP1 HTT RAB3GAP2 FIG4 CASK FANCG RERE ASXL1 IL7R KIAA0556 COL3A1 FANCI RPGRIP1L POMGNT1 ORC1 AIFM1 RB1 APC SPECC1L SLC2A10 OBSL1 ABCA12 SMARCA4 TRIM8 NPHP3 HERC2 NEK8 ADAMTSL2 PLOD3 SHROOM4 DMP1 ZNF423 DPF2 MAF LBR NOTCH2 CHEK2 DACT1 WNT10B FAM149B1 EIF4A3 LRP4 TRPV6 FKRP B9D2 IFNGR1 ZBTB16 COL4A1 BMPR1A HCN1 KIF1A KIAA0753 DNMT3A VPS13B GLI1 KCNJ8 ORC4 MKRN3 ARCN1 IFIH1 ADAMTSL1 PCYT1A SCYL2 CLTCL1 CAMK2G SIM1 POMK FANCC FBXL4 ERCC2 SIK1 DAG1 STX1B TGDS VAC14 SGMS2 DNAJC21 BGN FKTN B3GALNT2 SMAD4 TBXAS1 HOXD10 AGPS PAPSS2 HBA2 WDR81 ALOX12B HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY SHOX TWIST1 CTBP1 GLI3 PDGFRB LIMK1 GJA5 B4GALT7 LRP4 ARHGAP31 FANCL AFF4 ARID1B PTEN COMP MMP13 AMMECR1 MAP3K7 LTBP3 GPC3 RRAS2 PEX7 ELN FLNB NXN BRIP1 FGFR2 TP63 ATR PORCN IFT80 HOXD13 TCF12 CHRNG SALL4 FGFR3 FGFRL1 BPNT2 MMP14 BMP2 SMO LRP5 CHD7 GSC CHST3 BANF1 RUNX2 SF3B4 GDF5 MYH3 PTCH1 EXT1 BPTF USP9X TBX15 PIEZO2 ROR2 COL2A1 FGFR1 EP300 DCHS1 SNIP1 SETBP1 BMPR1B SMARCA2 GNAS MMP2 KCNH1 SEMA3E SRCAP RAB33B GATAD2B DOCK6 LMBR1 ESCO2 PHYH MRAS MYSM1 SLX4 NEK1 GPC4 GLB1 BCOR DVL1 FANCB BRAF MEGF8 LMNA RAD21 NFIX DHODH DLL4 COL11A1 KIAA0586 FANCA MASP1 FANCI DONSON INPPL1 NOG RBPJ ATL3 XRCC2 CPLANE1 FBXL3 NTNG1 GNPTAB WNT7A COL27A1 BMP1 UBE2T WNT5A MAF SHH SMC1A GTF2IRD1 SOS2 LETM1 MED12 RBM10 FANCM RFC2 ERCC4 PSMD12 INPP5K SIL1 FANCE ADAMTS10 NF2 SUMF1 NSD2 EXTL3 GNAS-AS1 PDE4D B2M CLIP2 POR GPX4 CLCN7 NPR2 MAFB WNK1 ACVR1 FLNA NOTCH1 CDKL5 BRCA2 RETREG1 AKT1 SRY PTDSS1 CPLX1 NSUN2 CREBBP OTUD6B DDR2 RAD51C KIF22 MSX2 BRCA1 ATP7A SOS1 FGF9 EZH2 DYM ALX4 B3GAT3 TRPS1 FZD2 TNNT3 MAD2L2 STX16 WDR19 GATA4 SH3PXD2B SLC26A2 RNU4ATAC GJA8 RAF1 ACAN FBN1 SETD5 POLR3A CHSY1 PTCH2 RECQL4 PTHLH KMT2A AGA RFWD3 SATB2 PIGT PIGS IHH RIT1 RAB23 INTU HDAC4 TNNI2 XYLT1 DYNC2H1 IFITM5 ZMPSTE24 CYP26B1 FAT4 NALCN PYCR2 PRKAR1A TAPT1 IFT122 DNMT3A HDAC8 PALB2 MEIS2 PDE6D PDE3A CCDC8 RSPRY1 DHCR7 GPC6 G6PC3 TCTN3 RBM8A A2ML1 TBX22 RPS6KA3 HHAT TPM2 TBX5 B3GALT6 FBLN1 NIPBL SAMD9 ZIC3 COG4 B3GLCT SALL1 IFT52 BHLHA9 TRIP11 CANT1 COL11A2 COLEC11 SCARF2 TWIST2 HOXA13 FANCF ADNP LONP1 LBR HOXA11 TBX3 MKKS RAB3GAP2 ALG12 FIG4 SMC3 MACROH2A1 FANCC TONSL FANCG GALNS ASXL1 FGF16 P3H1 KRAS MLXIPL COL3A1 EED MECP2 KCNJ2 GABBR2 FANCD2 EXT2 SLC39A13 LMX1B APC NRAS PRG4 GNPAT COL10A1 PRMT7 CTSC DVL3 OBSL1 MAP2K1 CHN1 BAZ1B TRPV4 CBL PTH1R EXOSC2 SMOC1 ADAMTSL2 FGF10 REV3L NONO MECOM ERCC1 RAD51 JAG1 MMP9 DACT1 HPGD PCNT FAM149B1 PLXND1 LIG4 EIF4A3 GTF2I MAP2K2 RASA2 STXBP1 ZNF141 ERGIC1 EXOC6B SPARC ZBTB16 RMRP IFT81 TMEM67 COLEC10 BMPR1A KIF7 KIF1A KIAA0753 KAT6B RLIM VPS13B SLC25A24 RSPO2 PRKD1 PITX1 IFIH1 ZIC1 PCYT1A CD96 NHS NSD1 POC1A COL9A3 LZTR1 PACS1 PTPN11 CTSK CUL7 EOGT TRIO TBL2 TMEM216 SUZ12 NOTCH2 FERMT1 VAC14 SCN9A CCNQ CSPP1 BGN FKBP10 OFD1 CWC27 RRAS SKI SNRPB RPS19 TGFB1 ABCC9 RPL26 AGPS SUFU GUSB PUF60 HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY RBM10 CCDC8 FANCE JAG1 GLI3 FANCM ERCC4 PCNT LRP4 FANCL AFF4 WNT7A GDF5 RECQL4 EIF4A3 RFWD3 FGFR2 SALL4 FLNB BRIP1 PDE4D SHOX B2M CHST3 POR ATR EXOC6B TBX5 B3GALT6 SAMD9 ZBTB16 IFT81 TMEM67 SF3B4 CHD7 NPR2 MAFB TRIP11 COL2A1 EXT1 RAD51C SCARF2 BRCA2 FANCF RAB3GAP2 BRCA1 ALG12 MMP13 BMPR1B FGFR3 SEMA3E FANCG NIPBL DONSON IHH MAD2L2 SLX4 P3H1 CUL7 ESCO2 FANCC FANCB FLNA DHODH FANCI FANCD2 COL11A1 EXT2 FANCA LMX1B APC HOXA11 PIGT CCNQ OBSL1 CHN1 XRCC2 DYNC2H1 PRKAR1A UBE2T TAPT1 FGF10 RPS19 PALB2 RPL26 TBX3 RAD51 HP_HYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPITUITARISM GLI3 GH1 AFF4 FGFR1 FSHB PNPLA6 EDA2R HESX1 ALMS1 TBX19 FOXH1 CTNNB1 PWAR1 CDON PROP1 FGF8 WDR11 CHD7 GLI2 TBCK GMNN BTK PIK3CA BRAF MT-ATP8 HS6ST1 ZNF148 ANOS1 ZSWIM6 SEMA3E IL17RD LHX4 NPAP1 WASHC5 GPR101 AKT1 TMCO1 POMC KMT2A ZIC2 CEP57 PTCH1 BSCL2 WDR4 GNAS YY1 PRKAR1A FLNB SIX3 KCNJ11 AIP GAS1 CDKN1C SHH ABCC8 APOA5 NFKB2 DISP1 TGIF1 NDN FANCI PREPL POLE SOX3 CDH23 ADAT3 LHX3 AAAS FLRT3 PDGFB KISS1R FOS B3GLCT CCDC141 TBX2 TRAF7 SLC29A3 EDA TP53 DCAF17 SRD5A3 HERC2 SMO SUFU AGPAT2 MAGEL2 PPARG CAVIN1 TDGF1 NF2 SNORD115-1 ADNP BAP1 STAT5B GPC1 TERT RRM2B DCC ARNT2 SOX10 POU3F4 ALX3 THOC2 SIN3A TACR3 SNRPN LEPR TMEM67 IARS2 SMC1A DMPK UCP2 LEP VPS13B SMARCB1 DUSP6 MKRN3 MT-TL1 FOXA2 RBM28 PCSK1 MEN1 PROK2 RNPC3 SNORD116-1 PROKR2 NSMF MARS2 STX16 PDE4D FGF17 NODAL CAV1 POLR3A IGF2 TBCE GHSR PWRN1 RFWD3 SEMA3A SLC7A7 OTX2 GMPPA EIF2S3 SMARCE1 BMP4 KIAA0556 TP63 DLL1 SPRY4 TRAPPC11 FEZF1 POU1F1 PITX2 HP_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION IGHMBP2 SEPTIN9 TXN2 LRSAM1 FLVCR1 SH3TC2 TTC19 SETX DNM2 SERPING1 GDAP1 SLC25A21 TFG GJB1 NAGA CTDP1 TRIM2 APTX HP_IRREGULAR_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_DENTITION FAT4 RIN2 TMEM231 NFIX DCHS1 HP_ANTEVERTED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTEVERTED_EARS TTI2 HMGB3 RPL10 FGF3 PBX1 CACNA1G BCOR KANSL1 HP_HAPPY_DEMEANOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAPPY_DEMEANOR DYRK1A ZEB2 ZSWIM6 TCF4 SATB2 ADSL SLC9A6 HDAC8 TBC1D23 RAB11B WDR26 HP_TOE_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_WALKING MYO9A COASY VAMP1 COL13A1 AGRN SGCA FKRP AIFM1 CYP2U1 SNAP25 PANK2 FKTN DMD POMT1 CHAT EMD ALDH18A1 FHL1 CAPN3 LRSAM1 TMEM43 SLC18A3 PNPLA8 DYSF HADHA COL12A1 MORC2 ARSA CRPPA INPP5K SYNE2 KMT2B BICD2 TPM2 B4GALNT1 MYPN ATL1 KY ERLIN2 GJB1 PSAP TPM3 LMNA SLC5A7 SYT2 HADHB TLK2 SLC25A1 FBN1 SYNE1 HP_ABNORMAL_CIRCULATING_ALDOSTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ALDOSTERONE CYP17A1 SCNN1A SCNN1G CYP11B1 SCNN1B HP_ABNORMAL_PROLACTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROLACTIN_LEVEL SOX3 PROP1 BAP1 HESX1 GNAS PDGFB OTX2 PIK3CA TERT SMO SMARCE1 TRAF7 SMARCB1 GLI2 PRKAR1A LHX4 SUFU AKT1 FOXA2 RBM28 NF2 POU1F1 GLI3 HP_ABNORMAL_LYMPHOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_COUNT DOCK8 SMARCAL1 ICOS CD3D NHEJ1 RAG1 PIK3R1 G6PC3 ELANE PSMB9 WIPF1 IL2RG SRP54 SGPL1 NFKB1 TERT CORO1A CD247 STAT1 RAG2 WAS CASP10 EPG5 IKZF1 CD3E PTEN EXTL3 FOXN1 UNC119 MS4A1 GATA2 RASGRP1 STAT4 CD81 SAMD9 PNP ATM TTC37 SKIV2L CDCA7 TRNT1 CHD7 ARPC1B TTI2 DNMT3B CD19 LEP ADAMTS3 ZBTB24 BTNL2 SH2D1A JAK3 CARD11 PGM3 TNFRSF13B DCLRE1C STK4 CTLA4 IRAK1 NRAS CD8A TNFRSF13C TCIRG1 IL7R SEMA3E RFXAP XRCC4 MSN RMRP RNASEH2B LEPR CTPS1 MYSM1 HELLS FOXP3 TINF2 FASLG CD3G LMNB2 SP110 PRKCD PIK3CD RFXANK CXCR4 FAS ACP5 TERC PTPRC ZAP70 CCBE1 NFKB2 PSMB4 GFI1 CIITA MTHFD1 TNFSF12 AK2 TPP2 MAGT1 TCN2 TFR2 CR2 IL2RA MYC XIAP LCK BCL11B DOCK2 TCF3 HLA-DRB1 NBN ADA IGHM TNFAIP3 SPP1 RFX5 FAT4 NLRP12 KRAS HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE MSX1 NECTIN1 WDR26 TP63 IRF6 HP_ABNORMAL_VITAMIN_B12_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITAMIN_B12_LEVEL PRDX1 MTRR MMAB CASP10 MMADHC FAS PRKCD MMACHC RASGRP1 MMAA MTR CUBN LMBRD1 ABCD4 GUCY2C MTHFD1 FASLG HP_ABNORMAL_SWEAT_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_HOMEOSTASIS FUCA1 TGFB1 FCGR2A SCNN1B CFTR SCNN1A HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY REEP1 PDK3 MED25 PMP22 DYNC1H1 PSAP SH3TC2 MATR3 C12orf65 AARS1 MPZ ATXN10 ERCC6 NEFL IDUA ARHGEF10 FGD4 GDAP1 BSCL2 POLG VCP DEGS1 LTBP3 ERCC3 FBN1 PLEKHG5 LRSAM1 EGR2 GALC TPI1 PRX TYMP PNPT1 WNK1 ARSA KIF1A DNM2 RRM2B AIFM1 DCAF8 CTDP1 ERCC8 RETREG1 PLA2G6 SBF1 NDRG1 RAB7A SLC25A15 MFN2 HK1 SAMD9L SUCLA2 FIG4 GARS1 OPA1 SLC12A6 PRPS1 NFASC SACS LITAF KIF1B GJC2 PNKP FXN MYH14 NALCN CCT5 SBF2 NEU1 SOX10 SETX MORC2 SIGMAR1 ATXN1 IGHMBP2 SCN9A RAI1 LYST NGLY1 GJB1 ABHD12 MTMR2 FBLN5 FLVCR1 FAM126A JPH1 HSD17B4 LMNA FBXO38 PEX6 HSPB1 HP_ABNORMAL_SERUM_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_IRON_CONCENTRATION KIF23 STEAP3 FOXP1 HAMP CP TTC37 TFR2 TRNT1 CARD9 PKLR BMP2 SKIV2L HFE HJV BCS1L HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY REEP1 MED25 PMP22 DYNC1H1 FIG4 GARS1 HK1 SH3TC2 SLC12A6 AARS1 MPZ GDAP1 SACS NEFL LITAF KIF1B GJC2 FGD4 BSCL2 POLG DEGS1 PNKP FXN PLEKHG5 LRSAM1 EGR2 NALCN CCT5 SBF2 SETX MORC2 PRX SIGMAR1 TYMP MFN2 ATXN1 GJB1 RRM2B DCAF8 CTDP1 MTMR2 FAM126A JPH1 LMNA FBXO38 RAB7A HSPB1 HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY MFN2 FLVCR1 PMP22 SLC12A6 C12orf65 WNK1 FXN KIF1A NGLY1 SACS ATXN1 RRM2B POLG RETREG1 SCN9A TYMP HP_ABNORMAL_SERUM_FERRITIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_FERRITIN HAMP CP KCNN4 TFR2 FTH1 BCS1L STXBP2 PRF1 NLRC4 PKLR SLC7A7 GFER BMP2 HFE HJV SLC25A38 PIEZO1 FTL STEAP3 SLC40A1 HAVCR2 SLC4A1 STX11 GLRX5 XIAP SLC30A10 HBB PUS1 HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION STEAP3 BCS1L GLRX5 HBB CP PIGA HP_ABNORMAL_TRANSFERRIN_SATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRANSFERRIN_SATURATION HAMP STEAP3 SLC30A10 BCS1L PKLR HJV HP_DEGENERATION_OF_THE_STRIATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_STRIATUM IFIH1 ATXN3 TREX1 RNASEH2A SAMHD1 RNASEH2C ADAR RNASEH2B PDE8B HP_ACNE_INVERSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE_INVERSA NCSTN KDF1 PSENEN PSEN1 HYOU1 HP_ELEVATED_URINARY_CARBOXYLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_CARBOXYLIC_ACID HPD UROC1 ACADM MVK RET TAT KIF1B ALDH5A1 HP_ABNORMAL_SPACED_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPACED_INCISORS ANKRD11 GATAD2B STAG1 DOCK7 CHSY1 DNMT3A TUBGCP2 ATRX ALX3 HP_GENERALIZED_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOPOROSIS GCM2 SP7 CHST3 MEN1 CDC73 CBS B3GAT3 COL1A2 LMNA COL2A1 TENT5A ZBTB20 COL1A1 STAT1 MMP14 HP_ORTHOKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOKERATOSIS KDF1 LIPN WNT10A CLDN1 CSTA CARD14 AAGAB DSG1 CYP4F22 LORICRIN FLG2 HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY BGN RSPRY1 BMPER EXT2 FGFR2 TRPV4 PCNT ERCC6 TRIP11 EXT1 ERCC8 PTH1R IDUA POR MBTPS2 VAC14 ATP7A FIG4 B3GLCT HP_ABNORMALITY_OF_THE_PERIOSTEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIOSTEUM COL1A1 SLCO2A1 FGFR2 IL1RN GALNT3 HP_ABNORMALITY_OF_HAIR_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_GROWTH LIPH SOX4 MAP2K1 RPL21 LPAR6 DSG4 GJB6 ARID2 SMARCC2 SMARCA4 KRT71 GJA1 CST6 TRPS1 KRT81 KRAS SOX11 PPP1CB SMARCB1 KRT74 ARID1A BRAF SMARCD1 SHOC2 EDARADD CYP11B1 MAP2K2 SMARCE1 EDAR IFT122 RNF113A KRT83 GTF2E2 TP63 DPF2 KRT86 ARID1B KRT25 HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE POMT2 GMPPB POMT1 DMPK FKRP LARGE1 HP_MACROTHROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTHROMBOCYTOPENIA TUBB1 ITGA2B SLC35A1 GP1BB GP9 ITGB3 GATA1 PRKACG GP1BA HP_MACULOPAPULAR_EXANTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULOPAPULAR_EXANTHEMA BTNL2 SLC4A1 SPTA1 EPB42 HLA-DRB1 SPTB ANK1 HP_OSTEOCHONDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOCHONDROSIS SMAD3 FGFR1 ACTG1 ACAN ACTB ORC1 KRAS HP_SCALING_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCALING_SKIN CDSN IL7R TGM1 OSMR TGM5 SULT2B1 KIF11 ZMPSTE24 CARD14 PKP1 PPP2R3C CAST MBTPS2 DCAF17 CASP14 CSTA KRT1 KRT10 ELOVL4 LMNA MPDU1 CHST8 SAMHD1 CARMIL2 RNF168 HP_INCREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEAD_CIRCUMFERENCE SNX14 FGFR3 PIGY HEPACAM LRP4 GLI3 CAMTA1 KCNJ1 TCIRG1 CLCN4 B4GALT7 EIF2B4 KIF7 KRAS INPPL1 PTEN SOX9 CCNK GPC3 ARL6 DNM2 LARGE1 UPF3B NXN GNAQ RAB39B NSD1 BMP2 ARHGEF6 NRAS PEX1 WDR35 BGN CHRNA7 PTCH1 RAF1 TBX15 PEX6 SHOC2 EML1 ROR2 FAM111A ARX FIBP NLRP3 IGF2 IL1RAPL1 SHANK3 HRAS KDM5C MTOR CEP120 IFT43 MYMK NF1 LRP2 PEX12 PEX10 FLI1 MECP2 MAN2B1 GPC4 NFIX PIK3CA ANK3 SUFU DVL1 STRADA ACADVL BRAF CDKN1C AFF2 AGGF1 OFD1 PIGN AKT3 RPGRIP1L SLC26A2 RPS6KA3 MID2 WDR60 RERE TRIP11 H1-4 KDM1A LAMB1 SYN1 ARSB MYH8 TNFSF11 SDHC SLC35D1 CHD3 SEC24D ITCH GALC COL2A1 EXT2 TSPAN7 DICER1 CLCN7 ALKBH8 TNFRSF11B ZSWIM6 SUZ12 HERC1 PIK3R2 WNT5A HSD17B4 ZBTB42 EDN1 KPTN SLC2A1 SOST PIGV MED12 CRADD CCND2 PEX14 RAC1 SH2B1 PEX19 TRIO SNX10 MOCS2 B4GALT1 TONSL PPP2R5D DNMT3A BICD2 NDUFAF3 DHCR24 FOXP1 GCDH LFNG SUMF1 SPINT2 ANKH PHF6 GRIA3 AP1S2 TBC1D7 CRPPA TCF20 GNAS PCGF2 PEX5 TBCK IQSEC2 AKT1 ZBTB24 DVL3 RNF125 RXYLT1 MLC1 PTDSS1 TMEM94 IDS SMARCB1 PLG NFIA SEC23B KIF22 WDR34 ACADM ZNF41 RYR1 EZH2 ZNF469 IDUA TMCO1 GNAI3 ZNF711 ETFDH SIX2 ASPA MTMR14 SYP HDAC6 ACAN GDI1 DYNC2H1 EIF2B1 PEX13 POLR3A SLC9A7 KIAA1109 PTCH2 B4GAT1 DAG1 USP7 HUWE1 PIGT RUNX2 HDAC4 IHH XYLT1 CCDC22 PDSS1 TNFRSF11A SOS1 DOCK6 L2HGDH PEX2 SON PGAP2 PEX16 MTM1 SDHD AMER1 ABCC9 RIPPLY2 KMT2E EIF2B3 FGFR1 CHD1 IFT80 PPP1CB FTSJ1 HES7 CSF1R CCDC28B SETD2 B3GLCT TUBB3 HCFC1 CHD4 FZD2 POMGNT2 MYF6 CXorf56 PLCB4 PEX11B UBE2A PEX26 LRP5 LBR PTHLH MESP2 CC2D2A GABBR2 SPRED1 FAM149B1 SLC25A1 MACROH2A1 TMEM67 ANTXR2 HELLS GJA1 CHD8 WDR81 EED POMGNT1 APC2 CNKSR2 PAK1 FGFR2 PIGA BIN1 YME1L1 POLE BRWD3 MAB21L2 SLC2A10 MAP2K1 DNMT3B EIF2B5 NDUFS4 UBE3A ZIC1 ETFA EIF2B2 MOCS1 SMO ZDHHC9 L1CAM SHPK POMT1 NONO ERF PTCHD1 ACSL4 CUL4B NOTCH2 TMEM216 TET3 ETFB RIT1 KLLN INPP5E USP27X MAP2K2 APC MPDZ FKRP OPHN1 IGBP1 GFAP CACNA1E ZBTB20 FMR1 SEC23A COL4A1 IFT81 D2HGDH CDCA7 BMPR1A PIGO SLC29A3 TBX6 ALG13 ACER3 TCF12 AGTR2 FH PIGL DIS3L2 HOXD13 PAK3 HEXB THRA KCNJ8 PITX1 NKX3-2 DLL3 POP1 CNTNAP2 POC1A DPH1 CAMK2G SIM1 WASHC5 OBSL1 POMK FRMPD4 DPYD C12orf57 BBS1 DLG3 MGAT2 PPP2CA MSX2 TWIST1 ASXL2 SERPINH1 TRIM37 FBN1 RNF135 SDHB ERMARD PIGW DMD PEX3 POMT2 ADK DEAF1 USF3 FKTN MITF B3GALNT2 PSAP CWC27 SMAD4 USP9X NFIB PGAP3 GUSB ZNF81 HP_DECREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HEAD_CIRCUMFERENCE VPS11 CTBP1 SLC1A4 SLC12A6 THOC2 PHF6 PIGH MCPH1 MICOS13 NHEJ1 CDK6 INSR FRMD4A KCNAB2 XPA RAB3GAP1 RNASEH2C ERCC3 CLP1 UBE3B STIL PLPBP SIX3 NDUFV2 CHMP1A PUS7 SCN8A CACNA1G HCCS TERT CC2D2A WWOX NR5A1 RAD50 NDUFS3 AUH NUP133 EMG1 HNMT OGT ZC3H14 CEP57 XRCC4 CAMK2B ESS2 BMP15 PIEZO2 BCOR KIT ESCO2 SLX4 MECP2 DHFR OCLN POMGNT1 CHRNG ALDH18A1 KMT2D TREX1 SERAC1 BUB3 DDX3X NALCN ATRX PLP1 FANCI PEX7 BRF1 FBXO11 FAR1 RAB18 PHGDH WDR45B TBC1D20 FBXL3 TOE1 PHC1 FGF8 SALL4 NEXMIF MICU1 EEF1A2 CLPB UFD1 LETM1 NUP107 NDUFAF3 TDGF1 TMEM126B HACE1 RAC1 RARS1 FANCE KIF2A SLC9A6 EP300 CLTC LFNG ALG13 KIF14 EXTL3 DEAF1 ITPA SIN3A WDPCP HCN1 PLK4 ACTG2 PIGP CRPPA NCAPD3 TSEN54 EFTUD2 FRRS1L DCHS1 UBA5 ITGA3 NDUFV1 CEP135 PDHX ATP6V0A2 NANS ADAR BCR MRPS34 RBM28 IFIH1 CRIPT PGAP1 STT3A CREBBP ERCC2 OTUD6B DIAPH1 UGP2 DNAJC21 PARS2 IQSEC1 VPS53 NSD2 TRAPPC12 FANCG ASPA HMGCL MAD2L2 ARSL ERCC4 FKTN CHAMP1 RTEL1 VPS13B NODAL POMT1 GJA8 TANGO2 KCNA1 PRDX1 PEX13 SMARCE1 DGCR2 NAA10 NDUFB3 USP7 PPP2R1A BDNF HUWE1 RFWD3 BRAT1 RPL10 BLM TRAIP PSMC3IP TUBB CDC45 XYLT1 TCF4 HIVEP2 CYB5R3 ERCC5 NUS1 TAPT1 DLL1 QARS1 CWF19L1 CDC6 DNMT3A BRCA2 PALB2 NDUFS7 PAH DNM1 SOX4 ASNS NSDHL EIF2B3 MYO18B RTTN SC5D STXBP1 EIF2AK3 FKRP MAPK8IP3 LTC4S SMARCD1 HES7 NUP188 POLA1 RPS6KA3 CDK5RAP2 NAT8L MT-ND3 ZNF335 QRICH1 ISCA1 SPATA5 TUBB3 PRDM16 MRPS22 DYM TBCK GMNN ARHGAP31 HNRNPU MBTPS2 COG4 RREB1 IFT140 AP4M1 STT3B TUBGCP4 COG6 SCN2A RFT1 TMEM216 TMCO1 ALG12 ACTB USP18 HTRA2 PEX19 NDUFS1 TRMT10A POMK IGF1 DONSON PPT1 KIF5A SMARCB1 SP110 VPS37A NUP37 SHH CNTNAP1 MMACHC TMEM165 DISP1 GNPAT ADAT3 ASPM COG2 FGFR3 CYFIP2 EIF2B5 CENPF SAMD9L TRAPPC2L C12orf4 TBX4 UBR1 GP1BB RHOBTB2 EPRS1 MIPEP MVK ERCC1 MAP11 ENTPD1 RAD51 GLYCTK CERT1 TET3 PGAP2 SLC6A8 CEP152 PEX11B PCNT LIG4 ERCC6 ALG3 CENPJ EXT2 SMC3 SLC2A1 SCN3A EPG5 KYNU FREM1 FMN2 BCL11A CRKL FAM20C AP4S1 CDK13 DISC1 PIGO SNAP29 RPS23 DKC1 RLIM KIF1C PIGL RAD51C PUS3 ACSF3 NDUFS4 GLI2 L1CAM CDC42 TBX1 TBL1XR1 CD96 GMPPB MPC1 SETD5 KCNA4 BMP4 KIF11 POGZ TINF2 MGAT2 PPP2CA KDM5C KDSR DHCR24 DHX37 PIGW SLC35A3 TBC1D24 FOXRED1 TRAPPC4 MTFMT CDK10 COPB2 NDUFB9 RNASEH2A UPB1 PSAP SLC25A19 TMX2 ANKRD11 CUL4B NDUFB11 ANKLE2 BUB1B RAI1 MAB21L1 RNASET2 TBCE GTF2E2 KDM6A OSGEP NCAPD2 NUBPL PIGY LIMK1 EIF2B4 NARS2 KIFBP AFF4 FSHR MAPRE2 SLC6A9 SPTAN1 ELN NADK2 DPM2 CEP55 ATR KMT2B FGFRL1 FUT8 DPYD ORC6 WDR4 SYNJ1 ADD3 CDKL5 ALG11 CHRNA7 ZNF592 TRAK1 XPC KANSL1 KNL1 ERCC8 AP4E1 HMGA2 RARS2 GABRA2 KMT2A GJA1 TBCD MYMK ZC4H2 CTCF TOP3A UFC1 NDUFB10 FRAS1 SOX2 NTNG2 SKI AGGF1 MBOAT7 RERE MAPK1 MASP1 B9D1 EXT1 CTU2 AGTR1 TRAPPC6B HNRNPH2 XPR1 KAT6A C2CD3 STAMBP LEMD3 DPP6 ASXL3 TECPR2 ARX NAGS PIGV CACNA1A PEX14 GPT2 DMXL2 INPP5K TUBA1A GTPBP2 SGPL1 MOCS2 ZNHIT3 GABRB2 ARNT2 RAB3GAP2 NECAP1 ALG1 PRSS12 MGME1 AP4B1 CHKB NELFA RXYLT1 SLC39A14 GJB4 NSUN2 SLC12A5 DNM1L GJB3 TRRAP RAB11B RSRC1 ST3GAL3 BRCA1 EMC1 PYCR1 CSPP1 DPM1 ZEB2 TCTN2 SLC35A1 CNNM2 PTS KCNA2 TARS1 SASS6 FLVCR2 SYNGAP1 SLC25A24 AHCY FAT4 COX15 TUBGCP6 GATA6 NDE1 RBPJ EFNB1 BNC1 EFEMP2 BUB1 MYH3 HDAC4 DOLK IARS1 PYCR2 ARFGEF2 DOCK6 PEX2 SATB2 MFSD2A MYSM1 ACO2 IGF1R RSPRY1 ATP6V1A G6PC3 KAT6B DHTKD1 CRADD LSS ACTL6B IFT74 LINS1 COX7B COG8 CENPE HSPG2 GNAO1 AUTS2 TUFM ZNF148 SEMA3E FANCF NTRK2 CHD7 MESP2 ZIC2 CTNNB1 MYORG GLS SUCLA2 MCM4 HDAC8 NIPBL ASXL1 DCPS FGFR1 PTRH2 ANK1 RUSC2 GRIN2A PIGC ABCC8 GABBR2 PIGA FBLN5 TPRKB MCM5 MORC2 TP53 PMPCB GAD1 AMPD2 NIN RPGRIP1L TRIM8 POMT2 PNPO LARP7 IER3IP1 THOC6 RIC1 QDPR DPF2 SAMHD1 AIMP1 MBD5 CCDC88A LMX1B PSPH WDR62 PPP1R15B DHCR7 B9D2 ZBTB16 RNF168 PTF1A PCDH12 SPIDR EHMT1 IBA57 PQBP1 FOXG1 GRIA4 VIPAS39 ORC4 GRIP1 TRAPPC9 WDR73 EBF3 MPDU1 PACS1 TP53RK ERCC6L2 GOT2 SET NDUFAF1 PPP3CA FBXL4 TRIO METTL23 RELN VAC14 NOP10 PUS1 SLC35A2 B3GALNT2 NBN PEX3 CDT1 PSAT1 ARF1 CIT JAM2 AP3B1 HBA2 POLR1A HAAO LMAN2L SLC13A5 ARID1B OSTM1 BRIP1 DDX11 ADSL SLC1A2 MED25 MTRR PEX1 TUBA8 REN NFIX NCAPG2 ATP7A DGCR8 MTHFS PAFAH1B1 SDHB TAF13 DYNC1I2 EGF RNF113A TFAP2A PTCH1 KCNH1 PIGQ RPGRIP1 DLD EDC3 CKAP2L GINS1 PEX10 CACNA1B PAX3 AGA SEPSECS RAD21 CEP290 CASK FLCN EXOSC9 SLC25A20 FANCA KLHL7 DGCR6 PEX12 TRAPPC11 NDUFS6 CHUK VARS1 GEMIN4 NDUFA11 ARHGEF2 TAF1 XRCC2 TMEM67 MPLKIP MED23 NTNG1 CDON PDGFRB SSR4 BCAP31 ZSWIM6 KCNB1 PMM2 GTF2IRD1 TUBB2B NDUFS8 SDHD FANCB LIAS ACSL4 WT1 GPKOW MIR17HG KCTD7 FANCM TUBB4A SELENOI NSD1 WDFY3 MACF1 RNF13 GRIN2B SUMF1 OFD1 DGUOK CLIP2 COMT POR PEX5 SIL1 PLAA POLR3H MAFB NDUFS2 TAF2 PCGF2 KDM5B HIRA PTDSS1 CPLX1 MAN1B1 RNPC3 MKS1 SIX6 DDB2 GATA4 EIF2B1 ELOVL4 CLPP FGF12 ARID2 SLC35C1 CRBN HMGB3 EIF2S3 PDHA1 DLAT ITGB6 HSPD1 TRIT1 RNU4ATAC NF1 NGLY1 PEX16 SARS1 POLG SNAI2 COASY PGAP3 HHAT TDP2 B3GLCT SALL1 KCNT1 SLC18A2 PUF60 POMGNT2 NHP2 ATPAF2 SCN1A SLC45A1 SBF1 LAGE3 NACC1 SLC25A1 PRKDC PDGFB ALG9 FANCC RNASEH2B SEMA5A COG1 NFASC UBE3A IKBKG KCNJ11 TAT MED17 KCNJ2 FANCD2 LARGE1 SPR HCFC1 POLE CEP63 BAZ1B AP1S2 TLK2 RBBP8 UBTF ACTG1 GRIN2D EFL1 TNIK ZIC1 KIF15 ATRIP SLC30A10 ACADSB NDUFA6 SF3B4 TAF6 SMC1A AAAS FH GBA TSEN15 SPART PRKD1 CTNND2 NDUFA1 DLL3 POC1A FLII JAM3 PNKP NDST1 ALDH6A1 GABRD SLC20A2 SMARCA4 SLC25A22 ATP6V1E1 GABRA5 DPAGT1 PARN BPTF TXN2 SNRPB MCOLN1 AARS1 RPS19 SCN1B DSTYK PHACTR1 SLC16A2 GLE1 NKX2-1 CCDC47 GJA5 FANCL DDX59 MT-ND2 COG7 CNKSR2 FOXH1 STAG1 PORCN DYRK1A UFM1 PCNA SOX11 ATP5F1A TRIP13 PEX6 KIF1A TELO2 WDR26 DNA2 DENND5A CLIP1 SMARCA2 TMTC3 TSEN2 LIPT2 TIMMDC1 NDUFAF8 GAS1 TMEM70 MTHFR LDHD UNC80 MCTP2 AP3D1 LARS1 ARVCF FBXO31 GFM2 PRUNE1 TGIF1 HBA1 IQSEC2 VPS33B GALC NDUFAF4 DHX30 UBE2T COQ9 TBC1D23 RFC2 SDHAF1 GABRG2 MEIS2 MSMO1 GORAB SZT2 MYCN JMJD1C ST3GAL5 ZBTB18 LRP5 TTI2 AP3B2 YWHAG ACD CDH11 CARS2 ZBTB11 NDUFAF2 MFF ARID1A CSNK2A1 TCTN3 CPT2 TUSC3 B4GAT1 KCNJ6 TRPS1 ALDH3A2 PIGS TSEN34 DHDDS CLCN4 GMPPA ALX4 SEC24C NEUROD2 TMEM107 FTO PRMT7 RB1 EOMES RIPPLY2 SHANK3 NDUFAF5 TRMT1 CTSD SMARCC2 STAG2 CTNNA2 ELAC2 SMG9 YARS2 VPS13D PLEKHG2 GTF2H5 ACE TUBG1 ADNP PEX26 GRIN1 CNOT1 CDK5 P4HTM VARS2 RIPK4 FIG4 AGTPBP1 LINGO1 AIMP2 FARSB FREM2 KIF5C PCLO FARS2 CYB5A NEK9 UGDH ORC1 AGT NCAPH YME1L1 CHN1 EXOSC3 CC2D1A NSMCE2 KMT2C MT-ND1 NDP EIF2B2 MOCS1 EZR SHROOM4 KATNB1 SDHA GRIK2 GTF2I LAS1L DEGS1 NUP214 METTL5 COG5 COL4A1 STAC3 CYP26C1 TBX6 ARV1 TMEM260 CDCA7 PAX6 BRPF1 ARCN1 ADAMTSL1 SCYL2 SIM1 ABCA2 GFM1 PAK3 SIK1 DAG1 WASHC4 TBL2 AHSG TUBGCP2 DYNC1H1 TMEM231 FBN1 SUFU TECR SMAD4 HP_MILD_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_MICROCEPHALY CWF19L1 SDHB LARP7 RIC1 SDHD THOC6 SDHA SDHAF1 GATA6 COG6 ASPA HP_ENCEPHALOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOMALACIA TGFBR3 THSD1 MSX2 COL3A1 ENG DNMT3A ALX4 ANGPTL6 HP_NON_MEDULLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MEDULLARY_THYROID_CARCINOMA HRAS MINPP1 DMPK NRAS SRGAP1 HABP2 NKX2-1 FOXE1 HP_ABNORMAL_CONSUMPTION_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONSUMPTION_BEHAVIOR MYO9A NKX2-1 PTPN22 PREPL MBD5 SOX3 KCNJ1 VAMP1 MAPT TMEM67 AGRN KCNAB2 NPHP1 PSEN1 SLC25A13 SNAP25 NTRK2 NPHP4 SIM1 SLC5A2 MEN1 CTNS CTNNB1 CLCNKB SNRPN PWAR1 CDC73 FGFR1 LEPR SETD2 AVPR2 HPSE2 HESX1 HNF4A PRDM16 CASR GPR101 NPHP3 CACNA1A ELP2 BRAF DHPS CYP11B2 SH2B1 LEP SLC5A7 ADNP HNF1B WFS1 NPAP1 MN1 MKRN3 SLC25A1 LRIG2 PCSK1 CLDN10 POMC ITPR3 PACS1 DPYD SLC12A3 ARNT2 GNAS COL13A1 SNORD116-1 RERE SLC3A1 CLDN16 MC4R INSR AVP CHAT OTX2 SLC18A3 IL6 PCDH19 HNF1A AQP2 GABRD PWRN1 AGPAT2 NDN SKI KCNJ5 SLC7A7 PROKR2 BSCL2 CISD2 MAGEL2 KCNJ10 SOX2 CYP11B1 MAN1B1 CACNA1D HERC2 SYT2 HSD11B2 ACAT1 GRN LARP7 NLRP3 SNORD115-1 HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM TWIST1 LIFR GLE1 CTBP1 RNU4ATAC BMPR1B SMARCAD1 B4GALT7 SMARCC2 KRT17 G6PC3 AMACR KRT10 KAT6B ARID1B TCF4 SETBP1 SMARCD1 NUP188 SLURP1 KRT1 FGF9 MYH3 MBTPS2 DDX11 TPM2 SDR9C7 CTSB ATR GPR35 NIPBL KRT5 MED25 ATP6V1B2 B3GLCT FGFRL1 KCNH1 CHD7 PLOD1 PIEZO2 CTSC PTCH1 SOX11 AUTS2 PEX13 COL17A1 PKP1 PEX10 PEX11B SHOC2 UBE3B TELO2 ADNP KRT9 ROR2 COG6 GPR101 FERMT1 TCF12 FIG4 SMC3 NECTIN1 HRAS ATRX AAGAB KRT83 PEX1 TFAP2A NXN SEMA3E PLEC FGD1 CHST14 DLX4 BCOR CKAP2L YY1 ZC4H2 ASXL1 PEX12 CTCF ESCO2 PTCH2 KRAS IFT57 AIP SMARCB1 BRAF SOX18 SUFU RAD21 MCTP2 IGF1 RSPO1 C1R MST1 DSE EXT1 KRT14 LAMB3 BRF1 BHLHA9 PEX2 LAMC2 ITGB4 MAP2K1 SLC18A3 GJB6 EXTL3 UBR1 PIK3CA PEX26 CCBE1 SMARCA4 FGFR2 UBA1 SIN3A GDF5 RHBDF2 SMOC1 TBX4 PLOD3 SMC1A HNRNPK GJB2 LETM1 STAG1 DPF2 PEX6 RAPSN RBM10 VPS33A RPL10 PORCN TGM1 SPECC1L SLC16A2 PEX19 HPGD RIT1 LAMA3 PEX14 GATA1 LMX1B SLC39A13 FOXP1 EP300 PTEN DSP NSD2 MAP2K2 KCNN3 APC THOC2 CSTA FGFR3 CHST3 MTOR PIGL DOK7 EHMT1 LBR PLAA KRT6A RPS23 PEX5 WNT10A AKT1 ATP6V0A2 AAAS PUF60 VPS13B CEP55 STXBP1 DIS3L2 CPLX1 NAA10 CREBBP ANKRD11 RAB11B TBL1XR1 ADAMTSL1 NECTIN4 DPH1 OFD1 SETD5 NALCN ZNF469 PACS1 KDSR SOX4 MYOD1 PNPLA6 TNNT3 MED12 TERT SLC25A24 NBAS TRPV3 PPP2CA ASXL2 TGDS ARID1A PEPD RIN2 SMARCE1 PEX3 ATP2A2 GJA1 VAC14 KMT2A CDK10 TRPS1 PIGS NOG TGM5 PERP ARID2 MUSK KRT16 HDAC4 TNNI2 NGLY1 XYLT1 DPAGT1 BMP4 DOCK6 IFT122 SERPINB7 CIB1 HDAC8 PEX16 RPS6KA3 CD96 NUP88 HP_ABNORMAL_INSULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INSULIN_LEVEL PLIN1 CNGA1 DHDDS BSCL2 INSR PDX1 EYS NAB2 KIZ ESR1 HNF1A MPI REEP6 RGR PRPF6 SIM1 KLF11 KIAA1549 PRPF8 DHX38 IDH3A ZMPSTE24 PPARG ALMS1 GUCA1B MEN1 LMNA NEK2 PDE6G SNRPN PWAR1 MAK RHO BBS2 CDKN1B RP9 DMXL2 TOPORS KLHL7 IDH3B INS RDH12 HADH ZNF408 DBH STAT6 SCAPER NEUROD1 ABCA4 RLBP1 C8orf37 ARL2BP SH2B1 DMPK UCP2 LEP HNF4A TRMT10A DIS3L2 RNF125 PDE6B GCK CERKL NRL BLK NPAP1 MKRN3 PROM1 PRPF3 PCSK1 USH2A POMC RP2 SPATA7 IMPDH1 IFT172 APPL1 SLC7A14 LEPR PRCD SNORD116-1 FAM161A PAX4 RPE65 MC4R AGBL5 KCNJ11 PRPH2 ROM1 PRPF4 MAFA CA4 TUB ABCC8 CAV1 RPGR TTC8 SEMA4A ARL3 CEL BEST1 LRAT NR2E3 CRX TULP1 SNRNP200 IFT88 PWRN1 AGPAT2 NDN AKT2 PCARE FSCN2 GLUD1 MERTK RBP3 CNGB1 ZNF513 CAVIN1 FOS AHI1 HGSNAT SLC16A1 IMPG2 IFT140 POMGNT1 SAG PRPF31 DCAF17 HERC2 OFD1 CDKN1A ARHGEF18 MAGEL2 PMM2 RP1 ARL6 CDKN2B CLRN1 AHR CDKN2C PDE6A CDHR1 SNORD115-1 CRB1 HP_HYPOINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINSULINEMIA RNF125 DMXL2 BLK HNF1A GCK APPL1 ABCC8 CEL PDX1 STAT6 NEUROD1 NAB2 HNF4A PAX4 KCNJ11 INS KLF11 HP_ELEVATED_HEMOGLOBIN_A1C http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEMOGLOBIN_A1C KCNJ11 BLK ABCC8 HNF1A GCK APPL1 NSMCE2 CEL PDX1 NEUROD1 HNF4A PAX4 INS KLF11 HP_PULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_HEMORRHAGE SLC35A1 COPA ZBTB16 STAT3 WIPF1 FIP1L1 STAT5B PRKAR1A SP110 CTCF HLA-DPB1 TBL1XR1 HLA-DPA1 PTPN22 CTLA4 NPM1 NUMA1 NABP1 BCOR RARA SLC7A7 PRTN3 PML IRF2BP2 WAS HP_ABNORMAL_SIZE_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_CLITORIS PEX14 TRAIP DHCR7 POR PEX11B PEX2 INSR NR5A1 PEX10 ESCO2 CYP11A1 PEX16 CCNQ SRY TALDO1 HCCS MAP3K1 UBE3B CEP152 RSPO1 PEX13 ZFPM2 ORC1 CDC45 WWOX CDC6 COX7B NR0B1 DMRT3 VAC14 ATR AGPAT2 PEX12 VAMP7 GMNN HSD3B2 ATIC ORC6 PEX1 UBR1 DHX37 BSCL2 PEX5 PEX3 KAT6B CDT1 TOE1 GATA4 CYP11B1 NDUFB11 FRAS1 PEX6 FGFR2 PEX26 SOX9 ORC4 WT1 CD96 FIG4 PEX19 HP_IMPAIRED_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_GLUCOSE_TOLERANCE CAV1 HSD3B2 APPL1 NSMCE2 PDX1 NEUROD1 IFT172 PAX4 USP8 INSR KCNJ11 POLG2 SLC40A1 KLF11 ESR1 BLK MAFA HNF1A WFS1 GCK HNF1B SLC5A1 LRP6 AIP LMNA ABCC8 CEL HNF4A INS HP_ADENOCARCINOMA_OF_THE_INTESTINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_INTESTINES POLD1 APC MLH1 MSH2 SMAD4 TCF4 MUTYH BMPR1A POLE GREM1 NTHL1 GPR35 MST1 HP_ADENOCARCINOMA_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_LARGE_INTESTINE BMPR1A POLE POLD1 GREM1 GPR35 MST1 TCF4 MUTYH HP_ADENOCARCINOMA_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_COLON BMPR1A POLE POLD1 GREM1 MUTYH HP_NEOPLASM_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PITUITARY_GLAND AIP BAP1 IDH1 KRAS BICC1 TERT TSC2 SMO MEN1 GANAB PMS2 TSC1 TGFBR2 BMPR1A EPCAM PRKAR1A CDKN1B CTNNB1 RPS20 IDH2 GPR101 SEMA4A PDGFB GNAS PIK3CA BRAF PKD2 USP8 MLH3 SMARCE1 MSH2 APC TRAF7 CDH23 SMARCB1 MSH6 SUFU PMS1 CDKN1A PKD1 AKT1 CDKN2B CDKN2C FAN1 NF2 MLH1 HP_NASOGASTRIC_TUBE_FEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING NSUN2 PACS1 TNIK B3GALNT2 NDST1 LMAN2L DCPS KCNK9 ASPA HNMT CRADD GRIK2 FOXP3 METTL23 WASHC4 PIGC FMN2 LINS1 DPM2 FBXO31 MED25 HECW2 TUSC3 SARS1 AIMP1 NACC1 MBOAT7 TRAPPC9 CC2D1A FRRS1L EDC3 NHLRC1 CRBN PRSS12 MED23 KDM5B TECR SLC45A1 ACSF3 CARS2 EPM2A PGAP1 C12orf4 MAN1B1 NONO EZR PSAT1 RSRC1 ST3GAL3 IQSEC1 ZC3H14 CLIP1 SLC35A2 HP_DECREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_IRON FOXP1 CP TRNT1 CARD9 SKIV2L HP_MALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_SEXUAL_DYSFUNCTION BAP1 PINK1 TTR TERT FMR1 SMO FGFR1 DCC SOX10 KISS1 TAC3 PROKR2 SACS TACR3 HJV SYNJ1 UCHL1 HESX1 SPRY4 HAMP FGF8 WDR11 FGF17 SNCA HFE PIK3CA HBB DMPK HS6ST1 PROK2 ANOS1 SMARCB1 HEXB IL17RD PODXL DUSP6 GPR101 AKT1 ABCD1 COQ2 MEN1 PRKN CACNA1G GALC LRRK2 LMNB1 BMP2 NSMF CHD7 GUCY1A1 AIP GNRHR SLC40A1 VPS13C AR CDH23 SEMA3A TFR2 PARK7 FLRT3 HTRA2 PDGFB KISS1R GNRH1 NDP CCDC141 SMARCE1 TRAF7 ATXN8OS SUFU RTN2 NF2 FEZF1 DNAJC6 HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY MAPT ATXN3 LRRK2 GBA TBCE ATXN2 GCH1 WDR45 SNCA TBP C19orf12 ADH1C FBXO7 ATXN8OS SNCAIP NR4A2 GLUD2 PRKN HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS RBM10 SHOX FGFR3 GLI3 NIPBL DONSON PCNT LRP4 P3H1 ESCO2 AFF4 WNT7A RECQL4 EIF4A3 FANCB FLNA SALL4 DHODH FLNB GDF5 PDE4D COL11A1 B2M EXT2 LMX1B APC ATR TBX5 B3GALT6 HOXA11 SAMD9 FANCI RFWD3 IFT81 CCNQ TMEM67 SF3B4 NPR2 CHN1 MAFB TRIP11 EXT1 PRKAR1A TAPT1 FGFR2 SLX4 FGF10 RAD51C RPS19 IHH RPL26 TBX3 ALG12 MMP13 HP_ABNORMALITY_OF_PERIPHERAL_NERVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIPHERAL_NERVES REEP1 PDK3 MED25 PMP22 TFG DYNC1H1 PSAP SH3TC2 MATR3 C12orf65 AARS1 MPZ ATXN10 ERCC6 NEFL TRPV4 IDUA ARHGEF10 FGD4 GDAP1 BSCL2 POLG VCP DEGS1 LTBP3 ERCC3 FBN1 PLEKHG5 SUMF1 EXT1 LRSAM1 EGR2 GALC TPI1 PRX TYMP EXT2 MPV17 PNPT1 SNAP29 WNK1 ARSA KIF1A DNM2 RRM2B AIFM1 DCAF8 CTDP1 ERCC8 DKK1 RETREG1 PLA2G6 SBF1 CEP126 PRNP NDRG1 RAB7A SLC25A15 DHH MFN2 HK1 SAMD9L SUCLA2 FIG4 GARS1 OPA1 SLC12A6 CPLANE1 PRPS1 NFASC SACS LMNA LITAF KIF1B GJC2 PNKP FXN MYH14 NALCN CCT5 SBF2 NEU1 SOX10 SETX MORC2 SPG21 SIGMAR1 ATXN1 IGHMBP2 SCN9A RAI1 LYST HSPB8 NGLY1 GJB1 ABHD12 MTMR2 FBLN5 FLVCR1 FAM126A JPH1 HSD17B4 FBXO38 PEX6 HSPB1 HP_HYPOLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPIDEMIA ANGPTL3 APOC3 CETP ACOX2 NGLY1 SAR1B PNLIP HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART PKD1L1 CCDC22 TBX5 FOXF1 GATA4 TBX1 HAAO ARHGAP31 FLI1 STAG2 B3GLCT DTNA CDK8 GJA1 NKX2-5 ZNF148 KYNU MCTP2 PAH COQ4 ANKRD11 TRAF7 POLR3A NR2F2 SMAD6 WASHC5 MKKS WT1 GATA6 NOTCH1 GATA5 CRELD1 MYRF HP_NARROW_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALPEBRAL_FISSURE RPL10 MYCN ESS2 CACNA1G GPC6 KMT2A GATAD2B TRMT1 PHF6 SLC6A17 MED13 PCNT DNMT3A PCGF2 TENM3 RBMX INTS1 SMAD4 DGCR8 RECQL4 DOCK6 HSPG2 KPTN PGM3 DGCR2 PDE4D TRIP12 LARP7 EFEMP2 TBL1XR1 DGCR6 B9D2 TBX1 ARID2 ATRX KCTD1 WDR35 SMARCA2 ADNP HP_ABNORMALITY_OF_THE_THORACIC_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY CYBB CYBC1 PORCN BCL6 CYBA PTPN22 RHBDF2 BAP1 NCF1 PDGFB EWSR1 BCL2 BIRC3 FOXP1 PIK3CA TERT STAT6 SMO NAB2 MALT1 SMARCE1 WT1 HLA-DRB1 NCF2 TRAF7 BRD4 SMARCB1 SUFU APOE GNPTAB AKT1 GLMN NUTM1 NF2 BCL10 NCF4 HP_ABNORMALITY_OF_JAW_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_JAW_MUSCLES CHRND SCN4A RAPSN NECTIN1 DOK7 COL13A1 CHRNE ERLIN2 DMPK MSX1 MUSK CACNA1S AK9 RYR1 CHRNA1 TP63 LRP4 AGRN ATXN1 CHRNB1 IRF6 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS MMP2 MMP14 PDGFRB RETREG1 ATL3 HPGD BANF1 LMNA WNK1 KIF1A CTSK MAFB ZMPSTE24 COL3A1 FLNA NOTCH2 IFIH1 CTSC SCN9A HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL POMK HBB FKTN CHEK2 KCNN4 MYC ACAD9 POMGNT2 RHAG INPP5K JAK2 SLC7A7 SIL1 B3GALNT2 RPS14 CALR CFH MPL CD46 SPP1 FLI1 DAG1 PLEC RXYLT1 TP53 SLC4A1 LARGE1 HELLPAR POMGNT1 SLC25A13 POMT1 FKRP USB1 POMT2 B4GAT1 RB1 ACADM PIEZO1 STAT4 GATA1 IRAK1 PNPLA2 COL4A1 TET2 CFI CRPPA HP_ELEVATED_PLASMA_ACYLCARNITINE_LEVELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_PLASMA_ACYLCARNITINE_LEVELS TANGO2 SLC25A20 ACAD8 ACAD9 SLC52A1 HP_TIGER_TAIL_BANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIGER_TAIL_BANDING ERCC2 ERCC3 TARS1 MPLKIP RNF113A GTF2H5 GTF2E2 HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN ITGB4 OCRL PEX6 ATM AFP MET PIK3R5 MKS1 SLC52A2 PRPS1 PLEC SLC25A13 CTNNB1 ITGA6 NGLY1 FAH SETX NPHS1 MAD2L2 FLI1 PIGN RNF168 HP_ABNORMALITY_OF_THE_TESTIS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TESTIS_SIZE TAF4B FANCE FMR1 FLRT3 TEX15 DAZ4 CCDC141 FGFR1 FANCL FBN1 NSMF B4GAT1 NF1 PTEN RFWD3 FSHB LHCGR ARL6 KISS1 MAP3K1 ERCC5 UPF3B ZFPM2 CCDC28B SLC39A4 WWOX BRIP1 NR0B1 AXL SAMD9 GLI3 SPRY4 PROP1 SLC29A3 TACR3 ARX FGF8 CLIC2 DMXL2 WDR11 FGF17 HSD3B2 HSPG2 MED12 PHGDH DHX37 MEIOB XPC MCM8 POLR3B CTDP1 HS6ST1 MBTPS2 PROK2 ANOS1 CYP11B1 FEZF1 IL17RD FANCF FAM111A FANCM CYP17A1 DAZ2 OGT KLHL10 MECP2 KDM5C CYP19A1 FANCG HDAC8 SLX4 MAP3K7 CYP11A1 NR5A1 WRN SRY GNRHR AGA FANCI RSPO1 FANCD2 ATRX FANCA SOX3 NANOS1 TSPY1 HUWE1 XRCC2 KISS1R KCNJ6 CYB5A RBMX DDX3Y IL1RAPL1 GATA4 DCAF17 UBE2T CFTR ZDHHC9 FANCB RAD51 GDF6 RPL10 CUL4B SOX9 ERCC4 XPA LAS1L DCC ERCC3 SOX10 TAC3 DUSP6 PROKR2 THOC2 CUL7 PHF6 SYCP3 HESX1 SOHLH1 VAMP7 SRA1 USP9Y GNAS TBC1D20 RLIM DKC1 LEP RAD51C PQBP1 BRCA2 AKT1 GLI2 DNAJC19 CDKN1C FOXA2 WT1 SYCE1 BRCA1 CHRM3 PHF8 RAB18 LEPR ALMS1 POR CHD7 RBMY1A1 BBS1 MAD2L2 DDB2 DAZ1 GNRH1 FANCC SEMA3A LHX4 TCTN3 ZMYND15 ERCC2 DMRT3 POLA1 GBA2 SEMA3E SATB2 DAZ3 OTX2 TEX11 TEX14 PMM2 PALB2 TDRD9 POU1F1 HP_SEROSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEROSITIS PTPN22 IL23R IL12A MEFV HLA-B ERAP1 F5 FCGR2B CCR1 CTLA4 IL6 MVK KLRC4 HLA-DRB1 HLA-DPB1 LACC1 HLA-DPA1 HBA1 TNFRSF1A TREX1 C4A IL12A-AS1 HBA2 CFB DNASE1 MAF UBAC2 TLR4 NOD2 PMM2 IL10 FCGR2A PRG4 JAK2 FAS PRTN3 MIF BRCA1 STAT4 HP_THIN_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_EYEBROW RPL21 APCDD1 KMT2D TP63 EDARADD RMRP TRPS1 DSG4 EDNRA KRT17 RPS28 FIG4 NF1 LZTR1 CLDN1 CDH3 LIPH CCNK MEGF8 RIN2 DSP UBE3B HR STAG1 EDAR MBTPS2 LMNA NAA10 CHST3 RNU4ATAC LPAR6 ST14 AEBP1 SPINK5 KREMEN1 EDA GJB2 KIFBP BANF1 GJB6 ITGA3 HDAC4 CDC45 ALX4 WNT10A DOLK KRT74 SOS2 KRT71 KANK2 SIN3A GNPTAB JUP LSS SNRPE SOS1 COL11A1 BCL11B CRIPT ZMPSTE24 PEX6 TWIST2 EBP BRF1 EPS8L3 POLR3A ANTXR1 TMCO1 KDM6A B4GALT7 NECTIN1 NECTIN4 SOX18 PEX1 HP_SPARSE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYEBROW WNT10B SMS APCDD1 KMT2D LRP1 KRT17 GTPBP2 RPS28 LIG4 NF1 CDH3 HEPHL1 LIPH NUP188 DSP HR LMNA WDR26 HERC1 CHST3 IRX5 LPAR6 ANTXR1 ST14 RNU4ATAC MED25 TP63 EDA GJB2 KIFBP CDC42 BANF1 ITGA3 DPH1 WNT10A SOS2 KRT71 KANK2 PQBP1 LSS SNRPE TRPS1 COL11A1 NECTIN1 GJB6 CRIPT UBE3B STAG2 NSUN2 TWIST2 BRF1 EDAR KDM1A TMCO1 FIG4 NECTIN4 COG6 KRT25 WDR35 RPL21 EDARADD TBCD RMRP DLX4 YY1 DSG4 EDNRA ZMPSTE24 KDM6A LZTR1 CLDN1 KRT74 PPP2R3C MEGF8 RIN2 NAA10 HECW2 VAC14 SPINK5 HDAC4 ALX4 CWC27 DOLK SIN3A GNPTAB ALX1 JUP SOS1 MAN1B1 NFIB EBP HNRNPK MBTPS2 SON POLR3A LARP7 TBX3 MEIS2 B4GALT7 SOX18 HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS RAG1 DCLRE1C IL2RG RAG2 IL7R CD3E PNP CD3D CD247 PGM3 HP_ABNORMALITY_OF_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BODY_MASS_INDEX STOX1 SLC25A13 THRA THOC2 CORIN FLT1 HP_LIMB_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MYOCLONUS TOR1A MAPT SLC2A1 JRK CACNA1H KCTD7 NOP56 KCTD17 GABRB3 SCN8A GABRG2 GABRA1 SGCE DRD2 HP_PAIN_IN_HEAD_AND_NECK_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_IN_HEAD_AND_NECK_REGION GNA11 BAP1 SLC39A14 GRHL2 VSX1 GNAQ SF3B1 PDGFB PIK3CA TERT SMO SMARCE1 DKK1 TRAF7 CYSLTR2 SMARCB1 SUFU AKT1 COL8A2 NF2 SCN9A OVOL2 CHST6 ZEB1 HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY FLNB FUCA1 CHRNA1 SLC26A2 CHST14 CHRND DHX37 POLR3A RIPPLY2 CHRNG GLE1 DSE SOX9 TRPV4 HP_EARLY_ONSET_OF_SEXUAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EARLY_ONSET_OF_SEXUAL_MATURATION STAR KMT2D CTBP1 LIMK1 NNT RFC2 DMXL2 PCNT STXBP1 MEN1 GTF2I IFNG PTH1R LHCGR FLI1 IDH1 EP300 PIGT ELN NSD2 MC2R KRAS DEAF1 DHCR7 KISS1R SNRPN INSR PWAR1 MMP2 CLIP2 RAI1 GLI3 PIGP TSC1 FGFRL1 MMP14 HSD3B2 SMAD4 HRAS GNAS NFIX CYP11B1 TSC2 CPLX1 AIP H6PD CREBBP NPAP1 MKRN3 GNAO1 SCN2A NR0B1 STK11 SLC25A22 SLC35A2 FLII CASK MRAP USP7 PIGQ BSCL2 PNKP ALMS1 POR SNORD116-1 NRXN1 HSD11B1 CNTNAP2 MLXIPL IDH2 SIK1 TBL2 LMNA PLAGL1 NR3C1 NRAS TANGO2 KCNA1 CAV1 DDX3X APC2 CDKL5 NSD1 PWRN1 NDN IQSEC2 MAB21L2 RAB23 BAZ1B FOS NEUROD2 HYMAI TRIM8 TXNRD2 LRP5 HERC2 AGPAT2 KDM6A MAGEL2 ARX SETD2 GTF2IRD1 SCN1B PPARG LETM1 CAVIN1 SNORD115-1 PAPSS2 HP_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM MN1 PIK3CA GLI3 EDN3 TUBB TSC2 ERBB2 KEAP1 KCNAB2 APC SDHB SDHAF2 VHL POT1 TCTN3 GNAS PTEN PMS2 MLH1 WRN MAPRE2 EPCAM NF1 GPC3 RELA PHOX2B CPLANE1 NF2 IDH2 PRDM16 TSC1 LZTR1 GDNF PDCD10 SUFU SDHD NRAS MLH3 PTCH1 MSH2 MSH3 SMARCB1 SDHC FH RUNX1 CDKN2A MYO1H AKT1 RET SETBP1 NTHL1 CCND1 BDNF RERE YY1 GPC4 KIF1B RB1 TGFBR2 BRD4 SDHA SOX2 BRCA2 FGFR1 SKI SEMA4A PDGFB SLC25A11 EWSR1 CCM2 ASCL1 DICER1 ARMC5 TRAF7 OCRL SMO IDH1 TP53 FAN1 BAP1 EPHB2 TERT KLLN DLST FAM149B1 RAF1 WDPCP IFNG BMPR1A FLI1 OFD1 ALX3 CTNNB1 PTPN11 NUTM1 PALB2 PTCH2 KIF7 LRP5 PDGFRB KIAA0753 POLE NOTCH3 SMARCE1 DMPK WT1 ADAMTS3 MSH6 PMS1 LMNA SEC23B TMEM127 MDH2 POLD1 KRAS SMARCA4 CHEK2 SIX6 C11orf95 TMEM216 BRAF MAX GABRD CCBE1 RPS20 USF3 NBN ZSWIM6 ALX1 KRIT1 FAT4 PDE6D HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM SDHD BAP1 KARS1 RET SDHB EDN3 VHL DLST TERT TSC2 SMO APC NF2 SDHAF2 NF1 MEN1 ATRX PHOX2B TMEM127 CDKN1B LZTR1 SDHC GDNF PDCD10 PIK3CA DNMT3A SMARCB1 FH MYO1H LMNA SDHA AKT1 SPRED1 HRAS MDH2 RNF43 CCND1 BDNF KIF1B TSC1 KIT MAFA PRKAR1A DAXX MAX EPAS1 PDGFB SLC25A11 CCM2 ASCL1 SMARCE1 TRAF7 KRIT1 SUFU GCGR CDKN1A CDKN2B CDKN2C HP_SCHWANNOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHWANNOMA NF2 LZTR1 PRKAR1A RNF43 KARS1 HRAS SMARCB1 HP_NEOPLASM_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EYE MDH2 RB1 GNA11 AKT1 BAP1 PIK3CA CCND1 GNAQ SF3B1 NF1 TSC2 KLLN DDB2 DLST SDHB SDHAF2 CHEK2 VHL TSC1 PTEN XPA ERCC3 CYSLTR2 SDHA ERCC5 MAX ERCC2 KIF1B NF2 USF3 RET KRT10 SDHC SLC25A11 NDP SDHD XPC DMPK FH ERCC4 SEC23B TMEM127 KRT1 TP53 HP_NEOPLASM_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_BREAST CHEK2 MLH1 PIK3CA RAD54L CTNNB1 BAP1 CDKN2A KLLN RAD51 NQO2 APC TERT RAD50 TP53 STK11 RAD51C PHB ACD PTEN CASP10 RELA BRCA1 KRAS CDH1 AKT1 RASGRP1 CDK4 NTHL1 IDH2 MRE11 TWIST1 XRCC3 BARD1 ATR GNAS BRIP1 POLE MSH2 PRLR PALLD SEC23B LMNA NBN RB1CC1 MITF BRCA2 AAGAB POLD1 RNF43 IDH1 COL14A1 MC1R PALB2 MGMT RAD51D WRN C11orf95 PPM1D FASLG SDHB SLC6A17 HMMR SMAD4 PRKAR1A MSH6 PRKN FAS USF3 ESR1 CDKN2B SDHC CASP8 TERF2IP POT1 ATM MDM2 FGFR2 OPCML PRKCD SLC22A18 SDHD HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY ERGIC1 CISD2 CHST14 WFS1 DSE HP_NUCLEAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCLEAR_CATARACT CRYBB3 VIM CFAP410 CHMP4B BFSP1 FTL GJA8 CRYBB2 MIP HSF4 CRYGC CRYBB1 NHS WFS1 HP_CORTICAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_CATARACT MIP OCRL OPA3 NF2 BFSP1 HP_CEREBRAL_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_PALSY OTUD6B GP1BA RBM10 IDH1 AP4S1 DNAL4 TUBB2B DCC ATP8A2 ITGA2B ITGB3 PROC NTN1 UGT1A1 AUTS2 CD109 KANK1 HPGD AIP SLC6A3 CA8 RAD51 VLDLR IDUA SYT1 RNF125 CACNA1D GP1BB DNASE1L3 GPR101 SMARCB1 SLCO2A1 SPR SCN4A AP4M1 PNP IDH2 GAD1 ITGA2 WDR81 HP_CONSPICUOUSLY_HAPPY_DISPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSPICUOUSLY_HAPPY_DISPOSITION NALCN SLC9A6 KANSL1 SATB2 SIN3A UNC80 HP_OVERFRIENDLINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERFRIENDLINESS GTF2IRD1 CLIP2 ELN MED13L LIMK1 RFC2 PIGH GTF2I BAZ1B TBL2 HP_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_MALFORMATION FANCE FANCG FANCM ERCC4 MNX1 DOCK6 MAD2L2 SLX4 ENG FANCC ARHGAP31 FANCL PTEN PIK3CA EOGT RFWD3 ARL6IP6 GDF2 FANCI AGGF1 GUSB FANCD2 DLL4 BRIP1 EPHB4 CCBE1 FANCA RBPJ CBS VHL TEK XRCC2 SMAD4 GNAQ ACVRL1 NOTCH1 ADAMTS3 RAD51C BRCA2 AKT1 IL6 UBE2T FANCF KRAS GLMN RASA1 FAT4 PALB2 BRCA1 FANCB COL3A1 RAD51 HP_RECURRENT_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PANCREATITIS MT-CO2 MT-ND6 PRSS2 MT-CO1 SPINK1 CTRC CDC73 CASR MT-TF MT-TW MT-TS2 MT-TQ MT-ND5 MT-TL1 MT-ND1 MT-ND4 PRSS1 MT-TH CPA1 MT-CO3 CFTR HP_NEOPLASM_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYROID_GLAND FOXE1 AKT1 JAG1 FOXI1 PIK3CA CDC73 KRAS MINPP1 KLLN BMPR1A RET KEAP1 GREM1 APC ECE1 WRN PMS2 EDNRB TGFBR2 NKX2-1 FASLG EPCAM SDHB PTEN PRKAR1A SLC26A4 SEMA3C NRAS SRGAP1 CASP10 CDKN1B FAS RASGRP1 RPS20 USF3 NRTN SEMA4A HABP2 SDHC GNAS HRAS DICER1 KCNJ10 MLH3 DMPK MSH2 MSH3 SEMA3D FLCN MSH6 PMS1 CDKN1A PRKCD SEC23B EDN3 LMNA CDKN2B GDNF CDKN2C FAN1 TG MEN1 SDHD MLH1 HP_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TICS ZSWIM6 VPS13A PANK2 GATAD2B PTCHD1 HDC CRKL PDGFB SLITRK1 BCR MAPK1 ARID2 PUF60 HP_MOTOR_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_TICS PANK2 PDGFB SLITRK1 PTCHD1 HDC HP_ABNORMALITY_OF_THE_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_HAIR BMP15 FLRT3 APCDD1 NR5A1 CCDC141 GNRH1 COL17A1 FSHR FSHB SRY PPP2R3C MAP3K1 DUSP6 AR ANOS1 ZFPM2 BNC1 IL17RD WWOX NR0B1 DMRT3 FEZF1 AXL FGF17 VAMP7 SEMA3E CYP17A1 SRA1 WDR11 SPIDR ITGB4 POLR3H PSMC3IP SPRY4 GJB6 GNRHR HLA-DRA DHX37 CYB5A POLR3B TP63 GATA4 MRPS22 SOX9 ORC6 LHB EPS8L3 WT1 NUP107 HP_ABNORMALITY_OF_THE_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR FLRT3 APCDD1 SNRPE NR5A1 CCDC141 GNRH1 COL17A1 FSHB SRY TP63 PPP2R3C MAP3K1 DUSP6 AR ZFPM2 IL17RD APOE WWOX NR0B1 CCBE1 DMRT3 LPAR6 FEZF1 AXL ZBTB20 FGF17 VAMP7 SEMA3E CYP17A1 SRA1 WDR11 ITGB4 SPRY4 GJB6 GNRHR HLA-DRA DHX37 DSC3 CYB5A POLR3B ADAMTS3 GATA4 SOX9 TBX3 ORC6 LHB EPS8L3 FAT4 WT1 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS TWIST1 CTBP1 CHST3 BMPR1B LIMK1 RFC2 MASP1 SMOC1 B4GALT7 WNT7A GDF5 RECQL4 GTF2I FGFR2 A2ML1 MAP3K7 TBX22 LRP4 FGFR3 SALL4 RRAS2 MECOM ELN NSD2 RASA2 CLIP2 POR B3GALT6 FBLN1 NIPBL FGFR1 DYNC2LI1 TCF12 FGFRL1 SF3B4 COLEC10 NOG GSC BHLHA9 CANT1 COLEC11 KAT6B FLNA HOXD13 GLI1 TBX15 KRAS PIEZO2 EVC HOXA13 PTDSS1 CPLX1 ROR2 HOXA11 COL11A2 PITX1 CHSY1 ZIC1 ATP7A SOS1 SMC3 FGF9 PAX3 SETBP1 MACROH2A1 XYLT1 SETD5 NXN LZTR1 TBX5 PTPN11 B3GAT3 DONSON IHH MRAS FGF16 ESCO2 TFAP2B MLXIPL BCOR TBL2 RAF1 FLNB RAD21 RBM8A DHODH APC NRAS KMT2A MYH3 RIT1 BAZ1B EVC2 CBL CYP26B1 RRAS MAF SMC1A NONO GTF2IRD1 HDAC8 SOS2 LETM1 RPL26 HP_SYNOSTOSIS_OF_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_JOINTS TWIST1 CTBP1 GLI3 BMPR1B LIMK1 MYH3 MASP1 MYO18B B4GALT7 FKRP NTN1 AFF4 GDF5 RECQL4 RBM8A GDF6 A2ML1 MAP3K7 TBX22 SALL4 GPC3 RRAS2 ELN FLNB FGFR2 TPM2 B3GALT6 FBLN1 NIPBL DYNC2LI1 TCF12 SALL1 CHRNG FGFR3 FGFRL1 NOG GSC PUF60 DNAL4 BHLHA9 CANT1 COLEC11 FGFR1 PTCH1 FLNA HOXD13 KANSL1 EXT1 ATP7A TBX15 GDF3 PIEZO2 EVC HOXA13 ROR2 HOXA11 COL11A2 MKKS RIPK4 CHSY1 SMC3 SETBP1 MACROH2A1 HGD TFAP2A NXN FGD1 TBX5 CHRND FUZ DONSON TBX6 IHH MRAS FGF16 ESCO2 GPC4 PTCH2 MLXIPL RAD51 BCOR PAX3 SUFU SOX2 RAD21 POR DHODH HES7 EXT2 APC NRAS FANCI CHN1 BAZ1B EVC2 MESP2 CBL OFD1 PTH1R SF3B4 SMOC1 MEOX1 MAF SMC1A NONO GTF2IRD1 MECOM SOS2 LETM1 DLL3 CHST3 RFC2 ACVR1 PCNT WNT7A TBX4 GTF2I LRP4 NSD2 RASA2 CLIP2 COLEC10 VANGL1 MAFB SOX5 KAT6B GLI1 DKK1 KRAS PTDSS1 CPLX1 ANKRD11 PITX1 LMBR1 ZIC1 SOS1 FGF9 XYLT1 SETD5 BMPER CHRNA1 LZTR1 PTPN11 B3GAT3 TNNT3 SIX6 DCC TFAP2B TBL2 RAF1 KMT2A IL1RN RIT1 TNNI2 NOTCH3 CYP26B1 RRAS NALCN SMAD4 HDAC8 RPL26 HP_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SARCOMA CHEK2 PIK3CA CBL SSX1 SDHB KIT ELMO2 MTAP TSC2 KEAP1 APC ABCA5 PDGFRA PTH1R MLH1 WRN CASP10 AURKA NF2 IDH2 ATP6V1B2 CDKN1B TSC1 DLC1 CTNNB1 KCNH1 TP53 KRT17 SDHC AKT1 PTCH1 EXT1 MSH2 FLCN HRAS PRLR TRIP13 RUNX1 REST FOXO1 RSPRY1 SPRED1 MEN1 NF1 DICER1 RB1 RECQL4 FASLG NRAS BRD4 BUB3 COL1A1 FAS ANTXR2 EXT2 BUB1 SSX2 PDGFRL AXIN2 KRAS PDGFB EWSR1 TLR2 SOS1 ASXL1 CDC73 MDM2 VEGFC TRAF7 NR4A3 TAF15 SUFU CDKN1A BAX CDKN2C ASPSCR1 PDGFRB MC1R BAP1 CEP57 PTPRJ SLC22A18 TERT KLLN FLT4 SMO FH DCC IFNG TBX18 IDH1 TET2 MAP2K1 MCC FGFR3 PTEN KCNN3 RASGRP1 NUTM1 SQSTM1 GNAS FAM20C PAX7 BMPR1B MLH3 NOTCH3 PAX3 WT1 PLCD1 GJC2 FOXC2 SMARCB1 CDKN2A BRAF LMNA SEC23B BUB1B PTPN12 PLA2G2A PTPN11 SRSF2 BMPR1A GREM1 FLNA EP300 RAD54B PRKAR1A MSH6 DHCR24 PTCH2 PMS2 GDF5 USF3 SDHA NBN SMARCE1 CCND1 ODC1 PRKCD SRC RPS19 CDKN2B SDHD HP_LEIOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEIOMYOSARCOMA AXIN2 DLC1 PLA2G2A FLCN NRAS PTPRJ TP53 FH BUB1B TLR2 MLH3 DCC EP300 AKT1 RAD54B CCND1 MCC ODC1 FGFR3 PIK3CA BAX SRC APC CTNNB1 BUB1 PDGFRL AURKA PTPN12 HP_FIBROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROSARCOMA FOXC2 CTNNB1 APC PDGFB COL1A1 MTAP BMPR1A GREM1 HP_METAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_DYSPLASIA POLE SFRP4 RMRP FGFR3 EXTL3 CWC27 MMP13 CDKN1C AIFM1 GPX4 RUNX2 GJA1 SRP54 COL2A1 LONP1 HDAC6 TMEM165 NKX3-2 DNAJC21 TGFB1 SBDS PTH1R POP1 COL10A1 UFSP2 HP_SENILE_PLAQUES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENILE_PLAQUES CHMP2B ABCA7 GRN C9orf72 TREM2 APOE MAPT VCP PSEN1 PRNP PSEN2 TMEM106B HP_ECTRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTRODACTYLY MMP2 PORCN PMP22 NXN DLX5 TBX5 CTBP1 GLI3 DHCR7 NSD2 SLC52A2 WNT10B DOCK6 MPZ FGFR1 GDAP1 NEFL ARHGAP31 EPS15L1 WNT7A BTRC EOGT LSS HINT1 CDH3 TP63 AHSG LETM1 TCTN3 FGFR2 MBTPS2 DLL4 SBF2 MED12 EGR2 SIGMAR1 FGFR3 ARSB BSCL2 IRF6 FGFRL1 RBPJ BHLHA9 PRX INF2 NOTCH1 CTDP1 GNPTAB NELFA DLX6 CPLX1 ROR2 JPH1 IDS HSD17B4 ITGB6 MORC2 HSPB1 SEM1 HP_PREAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_POLYDACTYLY EFTUD2 CTBP1 DACT1 KIAA0586 FAM149B1 TCTN3 GLI3 SMO IFT80 LMBR1 SALL4 NSD2 HYLS1 EXTL3 FGFR2 TFAP2A CEP55 B9D2 WDPCP CPLANE1 HOXD13 SALL1 FGFRL1 KIF7 COLEC10 MAFB IFT43 KIAA0753 WDR35 CC2D2A GLI1 FLNA NELFA ZSWIM6 CPLX1 GJA1 TMEM216 WDR34 CSPP1 FGFR3 PHF8 TCTN2 RPGRIP1 CEP120 NEK1 IFT57 WDR60 LETM1 MEGF8 DYNC2H1 NEK9 CEP290 B9D1 CTU2 CILK1 RAB23 CHN1 MKS1 OFD1 INTU CDC45 TMEM67 TMEM231 CENPF BMP4 C2CD3 RPGRIP1L SHH BHLHA9 TMEM107 FGF10 PDE6D PUF60 HP_POSTAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_POLYDACTYLY DYNC2LI1 GLI3 DHCR7 TMEM231 IQCE GLI1 SC5D IFT172 WDPCP DDX59 IFT80 LMBR1 GPC3 ARL6 SETBP1 CIBAR1 WDR35 CC2D2A CCDC28B GDF5 CEP55 PORCN CPLANE1 KIF7 HOXD13 BBS5 CHST11 GLI2 KIAA0825 IFT43 IFT52 WDR60 NCAPG2 MBTPS2 TCTN3 TMEM237 HOXA13 CRB2 TRIM32 IFT140 TBX3 MKKS HYLS1 TMEM216 TCTN2 TMCO1 B9D2 RPGRIP1 CEP120 MKS1 TMEM107 BBS2 TMEM67 NEK1 GPC4 IFT57 KIAA0753 SUFU C2CD3 BBS4 MEGF8 RPGRIP1L OFD1 CEP290 AKT3 KIAA0586 UQCC2 B9D1 CTU2 RAB23 EVC2 WDR19 SHH BHLHA9 WNT7A NPHP3 SMOC1 PIK3R2 SMO EBP HNRNPK BBS12 LBR CCND2 TTC21B RBM10 GDF6 DYNC2H1 TBX1 NKX2-5 INPP5E IFT27 BBS10 SDCCAG8 WDR34 EXTL3 BBS9 ZNF141 COG6 PDE6D ALX3 IFT81 BBS7 BMPR1B PLAA LZTFL1 TGFBR2 BBS1 CD96 CSPP1 NKX2-6 C8orf37 BMP4 PPP2R1A FLNA NPHP1 SETD5 EVC CILK1 USP9X BBIP1 GATA6 INTU TGFBR1 FGFR2 COL2A1 ARMC9 TTC8 HP_MESOAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_POLYDACTYLY FGFR2 TMEM216 TWIST1 LZTFL1 KIF7 TFAP2B OFD1 MKKS CHSY1 KIAA0753 FAM149B1 GLI3 CPLANE1 TCTN3 PDE6D HOXD13 HP_ABNORMAL_TENDON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TENDON_MORPHOLOGY VPS11 NEB FKRP KCNAB2 POMT1 FHL1 LMNA LMBR1 EPCAM GPC3 KISS1 ADCY6 UPF3B KCNJ11 ERGIC1 ATRX SLC1A2 MED25 SPRY4 TRAK1 TACR3 CHMP1A FGF17 GSC BANF1 FKBP10 COL11A2 BGN CCR6 TPM2 MLH3 GFPT1 LGI4 MSH2 NUP133 NCAPG2 MEGF10 TNNT1 GJA1 SDHB PI4KA GAN NT5C2 HRAS RNF113A SETBP1 SLC35A2 TFAP2A ROR2 CHST14 CHRND BSCL2 PIEZO2 BCOR UCHL1 COL6A1 ESCO2 CRYAB NUP107 GNRHR SELENON CHRNG WDR11 PAX3 TREX1 ABCG8 SEPSECS NEDD4L CAPN3 ANTXR2 EXOSC9 PSMB8 VRK1 H1-4 DMD KLHL7 TBR1 DSE SLC39A14 IGHMBP2 PEX7 BRF1 RFC1 RAB23 PHGDH WDR45B TSEN54 ALDH18A1 MYH3 SGCG SLC18A3 TNNT3 ITCH ABCC8 GMPPB NTNG1 MYO9A ABHD12 MMP1 SALL4 SUZ12 ERCC2 AGPAT2 PMM2 COL6A3 SDHD LIAS AP4B1 GPKOW PIGY TGM1 PIP5K1C LPIN2 IRF5 PLEC AGRN SGCA LDLR ACTA1 SLC9A6 RNF13 ZMPSTE24 PPP2R5D FGFR2 EP300 POU3F4 LFNG ALX3 ALG13 EXTL3 SLC25A19 CHRNB1 PHF6 GCK POR POMT2 FKTN KLC2 ACTG2 DOK7 SIL1 ZFP57 HLA-DRB1 C19orf12 ERCC3 PLAA MAFB DCHS1 PEX5 ERLIN2 TTPA ADAR BCR MRPS34 RBM28 TGFBR2 IFIH1 PTDSS1 MSH6 PMS1 CREBBP OTUD6B TMEM107 SLC25A1 DUSP6 ACADM TPM3 MYH2 EZH2 DNAJB6 NALCN VPS53 RAB18 TRPS1 PEX2 CHD7 KCNK9 MED12 ERCC4 SPART SH3PXD2B HINT1 PLAGL1 LEMD3 ELOVL4 KIAA1109 CAV1 RPS20 RYR1 USP7 HUWE1 PIGN RPL10 ABL1 DNA2 CAVIN1 ALX1 ERCC5 NSMF TAPT1 FLVCR1 ALG8 ERBB3 ITGB6 SMAD3 POLR3A KISS1R HSPD1 THOC6 ASAH1 CCN6 ERLIN1 RNU4ATAC KLHL41 PRDM5 SMARCAD1 GLUL MYO18B RTTN COL6A2 SLC1A4 NGLY1 PMS2 HES7 NUP188 COASY GDF5 PLOD2 ZNF335 APOE B3GALT6 AMER1 SYNE1 MYOT PRDM16 ERCC1 FZD2 CANT1 MFN2 UROS HOXD13 SLC39A8 COL12A1 NACC1 RFT1 TNPO3 GTF2H5 VMA21 FAT4 VAMP1 GLI3 TRIM2 HGD PIGP CACNA1A POMK NXN TNNI2 FIG4 NKAP SLC12A6 TCTN3 MYL1 COG1 TBX15 PPT1 ADGRG6 MYH8 EED MECP2 ANOS1 CNTNAP1 MYH7 LARGE1 MBTPS2 FCSK SDHAF1 PRG4 GNPAT IKBKG LIFR FLNA LAMC2 SEMA4A GCH1 NAA10 PCSK9 TRPV4 CCBE1 UBA1 GJB1 SIN3A BICD2 SHH GDAP1 SMOC1 F8 ZDHHC9 TBX4 REV3L PIK3CA SLC26A2 TTN SLC16A2 CRLF1 ANO5 KRT1 LAMA3 PSMB9 COL3A1 ADAT3 SRD5A3 TTR GBA ERCC6 ALG3 BMPR1A PIK3R2 L1CAM MUSK KIF15 GNPTAB BRAT1 CHST3 SPEG CRKL CACNA1E ZBTB20 PIGL ECEL1 INS LMOD3 CDK13 GJB2 COL2A1 KLHL40 KAT6B KY ADAMTS3 SPG11 CDC42 ALG1 NKX3-2 DLL3 POP1 ALG9 MLH1 DPH1 COL11A1 HIKESHI CHRNA1 MYL2 MAP3K7 MYOD1 MYBPC1 WNT5A PITX1 CCN2 CHAT KDM5C ATP6V1A FLRT1 CTCF FBN1 DHCR24 IL6ST SLC35A3 GABRD TBCD RNASEH2A ITGB4 TGFBR1 GNRH1 DPAGT1 ARL6IP1 IARS2 PLP1 CUL4B ANKLE2 ZC4H2 HSPG2 SNRPB ALS2 EXOSC8 NDE1 LAGE3 B4GALT7 CLIC2 BAG3 PHACTR1 OSGEP SNX14 SMS GLE1 CCDC47 MPLKIP PDX1 FGFR1 FBN2 PLEKHG5 KLHL9 SLC6A9 ARID1B DPM2 ATR GBE1 MED13L STAT3 SYNE2 KIF14 FUT8 ORC6 PNPT1 WDR4 DNM2 PCNA NSDHL AP4E1 SLC5A7 KIF1A TELO2 WDR26 COL17A1 ALG14 DAG1 NLRP3 MMP2 FGD1 SRCAP VPS33A COL13A1 MYMK GPC4 UFC1 TMEM70 FAM20C MEGF8 KIAA0319L SKI UNC80 EMG1 NOD2 GFM2 PRUNE1 CRPPA KIF5A MAPK1 LAMA2 HBA1 VPS33B DST FIBP LDLRAP1 FOS RNASEH2B NOG TOR1AIP1 MAF ZBTB42 HS6ST1 PPARG SPTBN4 NUP88 DARS2 PORCN TFG C12orf65 SNAP25 TWIST2 SLC39A13 ZNHIT3 FOXP1 RAB3GAP2 TMEM43 PROKR2 DVL1 ITGA6 ORAI1 GORAB SCN4A EMD GMNN DDHD2 FUCA1 CHRNE ARX STIM1 SLC25A46 TBC1D20 TRPV3 CNTN1 AUTS2 CEP55 DVL3 SYT1 NEK9 IDS DDR2 COL1A2 ALG2 DYM DPM1 IDUA TARS1 FLVCR2 B3GAT3 ELN SON ATP6V1E1 LTBP4 PIK3C2A RNASEH2C CPT2 CDC45 EFNB1 CDC6 KCNJ6 CFL2 PSMB4 ASCC1 PIGS CCDC22 NSUN2 MAGEL2 BMP4 FGF8 PYCR2 SYT2 COL7A1 SATB2 MTM1 MTMR14 RIPPLY2 TRIP4 LSS SPRTN CDH3 FGFR3 SMG9 PYCR1 WIPI2 CLCF1 SLC10A7 SLC29A3 TUBB3 GNS APOB SCARF2 PROK2 ECE1 SAMHD1 PEX6 TBX3 MESP2 CDK5 P4HTM GTF2E2 AIMP2 AP4S1 PPP3CA NIPBL ZNF469 RERE YY1 ASXL1 PTRH2 SLC2A10 COQ7 MLXIPL CDKL5 DHODH KIF5C CYP27A1 GABBR2 ORC1 PIGA AIFM1 TPRKB MORC2 PRKCG BIN1 GAD1 LAMB3 CHN1 EXOSC3 HACD1 ITGA7 TP63 BHLHA9 SHPK ADAMTSL2 PLOD3 PSAT1 RIC1 FAN1 NDUFAF4 RAPSN AIMP1 NEFL PLXND1 ACADS SDHA DEGS1 OCRL TAC3 STXBP1 KBTBD13 ATAD1 COG5 STAC3 IBA57 SOX10 MYPN ACER3 PQBP1 GRIA4 VIPAS39 ORC4 ABCG5 BRPF1 WDR73 SCYL2 MPDU1 NSD1 XYLT1 TP53RK KRAS CTDP1 WNT7A TGDS SIK3 POLD1 AHSG OPA1 FERMT1 PTH1R MT-TE GBA2 CDT1 GRID2 HYMAI SMAD4 MAP3K20 GUSB AP1S2 HBA2 PEX1 HP_SYNOSTOSIS_INVOLVING_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_DIGITS NOG BHLHA9 GDF5 IHH PTDSS1 TFAP2B CHSY1 PCNT BMPR1B HP_DISTAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM PCNT NOG BMPR1B IHH TFAP2B GDF5 HP_PROXIMAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_SYMPHALANGISM NOG GDF5 BHLHA9 PTDSS1 CHSY1 HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS TWIST1 FGFR3 SMOC1 NONO FGF16 BHLHA9 GDF5 NOG ZIC1 HOXD13 FBLN1 FGF9 TCF12 SALL1 HP_SYNOSTOSIS_OF_CARPALS_TARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPALS_TARSALS NOG NXN GLI3 BMPR1B MYH3 TNNT3 ESCO2 MAP3K7 TBX4 RECQL4 FLNA LRP4 FGFR3 SALL4 PAX3 FLNB RBM8A CHSY1 TPM2 POR APC GDF5 B3GALT6 FBLN1 DYNC2LI1 GDF6 EVC2 TNNI2 BHLHA9 FGFR1 OFD1 HOXD13 ATP7A GLI1 NALCN EVC HOXA13 SMOC1 ROR2 FGFR2 COL11A2 MKKS PITX1 LMBR1 MACROH2A1 HP_LIP_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIP_PIT IRF6 TFAP2A EYA1 NECTIN1 RIPK4 KDM6A SIX1 TP63 OFD1 MSX1 GRHL3 KMT2D HP_NEOPLASM_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_COLON CHEK2 SH3KBP1 FOXE1 AAGAB POLD1 TP53 FLCN MLH1 RNF43 COL14A1 SDHB KIT KRAS CEP57 MUTYH BRCA2 MINPP1 BMPR1A AXIN2 GREM1 PALB2 APC STK11 PDGFRA PMS2 TGFBR2 SMAD4 EPCAM MSH2 PRKAR1A MSH6 BUB3 NTHL1 RPS20 BUB1 PTEN SEMA4A HABP2 SDHA POLE SDHC MLH3 DMPK BRCA1 PMS1 MDM2 MSH3 CDKN2A ENG TRIP13 PALLD SMAD7 RPS19 PIK3CA FAN1 BUB1B HP_DIFFUSE_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBELLAR_ATROPHY CARS2 KIF1A TXN2 ERCC3 PEX10 TARS1 BTD MPLKIP ERCC2 FMR1 TBC1D24 EMC1 GTF2E2 GTF2H5 RNF113A DAB1 HP_SKIN_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PIT KAT6A TFAP2A EYA1 KMT2D NKX2-5 CTBP1 GATA5 RIPK4 GDF1 ZFPM2 PLCB4 TBX1 EDNRA PAX1 STAG2 GPC4 PTCH2 ANK1 KDM6A EIF2AK3 FLT4 SUFU NSD2 KCNJ2 GNAI3 IRF6 ATP2A2 SIX1 GJA5 TP63 XYLT2 JAG1 B3GLCT SALL1 UBE2A GRHL3 PTCH1 FGFRL1 SPECC1L NECTIN1 RAB23 GATA6 GSC MITF GATA4 OFD1 AUTS2 MSX1 CPLX1 CIB1 EDN1 CITED2 LETM1 GPC3 NKX2-6 HP_PERIAURICULAR_SKIN_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIAURICULAR_SKIN_PITS KAT6A TFAP2A EYA1 KMT2D NKX2-5 CTBP1 GATA5 GDF1 ZFPM2 PLCB4 TBX1 EDNRA PAX1 STAG2 GPC4 ANK1 EIF2AK3 FLT4 NSD2 KCNJ2 GNAI3 SIX1 GJA5 XYLT2 JAG1 B3GLCT SALL1 UBE2A FGFRL1 SPECC1L RAB23 GATA6 GSC MITF GATA4 AUTS2 CPLX1 EDN1 CITED2 LETM1 KDM6A GPC3 NKX2-6 HP_ULCERATIVE_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULCERATIVE_COLITIS MASP2 NOD2 PLCG2 MAP3K7 INAVA GPR35 MST1 TCF4 IL6 HP_ACUTE_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_COLITIS RET IL10RB OPLAH NLRC4 STAT1 IL10RA HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION MYO9A GMPPB CHRND CHRNE SCN4A RAPSN DOK7 GFPT1 VAMP1 COL13A1 AGRN RYR1 CHAT SNAP25 MUSK ALG2 DPAGT1 AK9 CACNA1D SLC5A7 SPEG SYT2 COLQ ALG14 LAMB2 SLC18A3 TTN CHRNA1 SLC25A1 BIN1 LRP4 CHRNB1 HP_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_ATROPHY MYO9A HNRNPA2B1 MYL2 TRIP4 POLG CHRNA1 ANO5 VAMP1 COL13A1 AGRN STIM1 ACTA1 SNAP25 CHAT EMD ORAI1 FHL1 SELENON TMEM43 MYH7 SLC18A3 TK2 TPM2 TRAPPC11 LAMA2 SYNE2 RYR1 CHRNE PNPT1 VPS13A TPM3 GFPT1 HACD1 SARS2 ITGA7 LMNA SLC5A7 STAC3 SYT2 COLQ MAP3K20 LAMB2 CASQ1 TTN CNBP SLC25A1 IFIH1 SYNE1 HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE LAMA2 COL6A2 COL6A3 TOR1AIP1 COL12A1 ANO5 SGCG COL6A1 MYOT MYH7 HP_MUSCLE_FIBER_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_INCLUSION_BODIES GMPPB CRYAB KLHL41 CFL2 ACTA1 MYO18B RYR1 STIM1 NEB NEFL HNRNPA1 KLHL40 ALG2 ORAI1 DPAGT1 MYPN KBTBD13 TPM3 TPM2 LMOD3 FLNC PYROXD1 GFPT1 TNNT1 CASQ1 GNE NDUFB3 ALG14 MYOT MYH2 HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS ORAI1 DPAGT1 GMPPB ALG14 CASQ1 GFPT1 ALG2 STIM1 HP_CEREBRAL_CORTICAL_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_HEMIATROPHY MYO5A ACTG1 EHMT1 ACTB TCTN3 MBTPS2 HP_CEREBRAL_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_INCLUSION_BODIES MAPT PSEN2 DNAJC13 NPC2 SNCA HNRNPA1 ABCA7 APP EIF4G1 SNCB TOMM40 GBA ADH1C FBXO7 SNCAIP SORL1 LRRK2 TREM2 ATXN2 PLAU PRDM8 VCP APOE PSEN1 VPS13C TBP ATXN8OS PLA2G6 EPM2A C19orf12 NHLRC1 VPS35 NOS3 NR4A2 MPO A2M HFE GIGYF2 ITM2B GRN PRNP HNRNPA2B1 NPC1 RAB39B GLUD2 HP_LEWY_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEWY_BODIES MAPT GBA DNAJC13 SNCA C19orf12 EIF4G1 SNCB VPS35 ADH1C FBXO7 SNCAIP LRRK2 NR4A2 ATXN2 GIGYF2 PLA2G6 VPS13C TBP GRN ATXN8OS RAB39B GLUD2 HP_ABNORMALITY_OF_THE_DENTATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTATE_NUCLEUS PDGFRB CYP27A1 PDGFB ATN1 SLC20A2 WDR81 HP_JUVENILE_ASEPTIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ASEPTIC_NECROSIS FZD2 SLC2A10 PHF6 INPP5K TRPS1 SIL1 KRAS COL2A1 SMAD3 FGFR1 COL1A1 WNT5A COMP DVL3 TRPV4 ATP7A EP300 UFSP2 ACAN DVL1 CREBBP ACTG1 ADAMTS2 ACTB COL1A2 ORC1 EXT1 HP_SCLERODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLERODERMA POLD1 LEMD3 HFE UROS SLC12A3 LMNA LBR UROD PAH SLC29A3 CLCNKB WRN HP_IMMUNOLOGIC_HYPERSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNOLOGIC_HYPERSENSITIVITY RSPH1 DOCK8 NKX2-1 CBL TNF SPAG1 MCIDAS CHD1 AFF4 STAT3 DNAH1 ARL6 MEFV SCGB3A2 IL12A-AS1 ALMS1 FOXH1 SRCAP CCDC28B CDON GPR35 CFAP221 SDHD DNAAF1 GP1BA RPGR STK36 PTGER2 DNAH9 TBCK CCR1 OFD1 LRBA RSPH4A IL4R RREB1 KLRC4 NME8 GAS8 CDH3 CFTR MUC7 TCF4 CCDC65 CFAP298 RUNX1 GTF2H5 PLCG2 NOD2 CTLA4 CFAP300 TBX21 ZIC2 PTCH1 MTOR SPEF2 NRXN1 ZMYND10 MLXIPL SIX3 GAS1 CCDC39 ARMC4 C4A UBAC2 DNAI2 ARVCF NFKB2 FCGR2A DISP1 NEK10 TGIF1 MST1 SPINK5 CARMIL2 HLA-G LIFR TGFB1 FLG PLA2G7 DNAAF6 CCDC103 ASXL1 TNPO3 FGF8 DNAAF4 ERCC2 GP1BB TLR4 CARD11 UFD1 RIC1 ADA TDGF1 FAS IL12A SPIB FOXJ1 LIG4 GAS2L2 LMX1B SCN4A TET2 CCDC151 FOXP1 DNAL1 DNASE1L3 CCL11 ADRB2 CSTA IL10 COMT SHH PEX5 GRHL2 STAT4 RSPH9 JMJD1C IL23R POU2AF1 ERAP1 COX4I2 DNAH5 HIRA STXBP1 COL5A1 TTC12 NEK9 NSUN2 IDS PGM3 GLI2 TBX1 ALOX5 DNAI1 DNAJB13 TRAIP SRSF2 HLA-B CCDC40 ELN BBS1 COL1A1 CNTNAP2 FOXP3 IL12RB1 SIK3 IL13 NODAL TALDO1 RBM8A TTC25 DNAAF2 ELOVL4 DDX41 IL6ST DRC1 MMEL1 USP7 RSPH3 LRRC6 DNAAF5 CCNO CDSN COL5A2 GP9 IRF5 TGM5 HYDIN SEC24C CASP8 SUFU CCDC114 LRRC56 PEPD HNMT BCL11B DLL1 MS4A2 TNFSF15 DNAAF3 FGFR1 DNAH11 HP_UNILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_LIP HYLS1 TAPT1 SMAD4 KIF7 SUMO1 HP_UNILATERAL_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_PALATE DLX4 CDH11 CDH1 MSX1 DLG1 NECTIN1 IRF6 TP63 SUMO1 BMP4 ARHGAP29 HP_NON_MIDLINE_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_LIP IRF6 RSPO2 TP63 HOXD13 ITGA8 SMAD4 MSX1 DLX4 SF3B4 FGFR1 FGF20 DDX59 DHODH NECTIN1 PTCH1 TAPT1 CDH1 NBN GLI2 PIGN TFAP2A SUMO1 GJA1 GREB1L RET HYLS1 YAP1 KIF7 CTNND1 HP_BILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP RSPO2 NECTIN1 PTCH1 CDH1 MSX1 DLX4 GLI2 YAP1 TP63 CTNND1 IRF6 HP_NON_MIDLINE_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_PALATE DLX4 NECTIN1 PTCH1 CDH11 CDH1 GLI2 SUMO1 BMP4 MSX1 DLG1 SLC26A2 YAP1 IRF6 TP63 CTNND1 ARHGAP29 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 CCN6 RIPPLY2 LIFR NALCN PHGDH RTTN COL6A2 MYBPC1 KCNAB2 KAT6B FBN2 PLEKHG5 SPRTN LMNA CDH3 LMBR1 MAP3K7 GPC3 SLC6A9 TNNI2 HES7 FGFR3 UPF3B ARID1B SMG9 MYH3 PYCR1 CLCF1 ATR RNU4ATAC AMER1 HOXD13 MED25 SYNE2 PRDM16 TUBB3 CHRNG ERCC1 FZD2 NOD2 ORC6 WDR4 HSPG2 MED12 PIEZO2 COL11A2 CANT1 GDF5 PLOD2 UROS LGI4 GJA1 NUP133 SCARF2 TBX15 ECE1 MEGF10 SELENON ROR2 TNNT1 SLC39A8 COL12A1 PEX6 COL17A1 TBX3 MESP2 GTF2H5 P4HTM SLC26A2 NLRP3 GLI3 SYNE1 SLC35A2 MMP2 TFAP2A NXN FGD1 SRCAP BCOR NIPBL RERE COL6A1 ANTXR2 ESCO2 NUP107 GPC4 CDKL5 L1CAM IRF5 TMEM70 DHODH MECP2 PAX3 KIAA0319L SKI CAPN3 GABBR2 EMG1 ORC1 MBTPS2 TPRKB PSMB8 SLC39A13 TPM2 MORC2 PRG4 ERCC5 KLHL7 KIF5A TBR1 IKBKG MAPK1 TRPV4 IGHMBP2 LAMB3 FLNA RAB23 LAMC2 SLC18A3 ALDH18A1 NAA10 CCBE1 UBA1 NTNG1 HACD1 SIN3A ASXL1 SHH NOG SLC29A3 ITGA7 SMOC1 TGFBR1 TP63 ZDHHC9 ADAMTSL2 PLOD3 COL6A3 RAPSN GPKOW PIGY PORCN SLC16A2 CRLF1 CHST3 ANO5 LAMA3 ACTA1 ADAT3 FKBP10 SRD5A3 TWIST2 ERCC6 ALG3 EMD OCRL LFNG ALX3 TMEM43 DVL1 STXBP1 MUSK EXTL3 UNC80 ERGIC1 CRKL ERCC2 POR COG5 PIGL ECEL1 ACTG2 GMNN DOK7 HLA-DRB1 C19orf12 GJB2 EZH2 PEX5 MAFB KY OSGEP ERLIN2 CNTN1 AUTS2 ADAMTS3 BCR PQBP1 TGFBR2 DVL3 PTDSS1 ORC4 DDR2 WDR73 DLL3 FKTN NSD1 XYLT1 COL11A1 MYL2 SMARCAD1 TP53RK B3GAT3 MYOD1 TRPS1 CTDP1 FGFR2 SMAD3 KCNK9 ZMPSTE24 WNT5A PITX1 CCN2 SH3PXD2B HINT1 KDM5C WNT7A SIK3 FHL1 CTCF LARGE1 SUZ12 DHCR24 TCTN3 PIK3C2A TGDS POLR3A CPT2 CDC45 EFNB1 CDC6 IL6ST SLC35A3 CAV1 GABRD FERMT1 TNNT3 ITGB4 FBN1 CDT1 TPM3 BMP4 ALX1 CCR6 IDUA FLVCR1 CUL4B MAP3K20 SNRPB LAGE3 FAT4 EED NUP88 PEX1 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 ARID1A SMARCA4 SMARCD1 SOX4 SOX11 ARID1B SMARCE1 DPF2 ARID2 SMARCB1 SMARCC2 HP_ABNORMALITY_OF_LOWER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT KMT2D POLR1A SMARCAL1 CTBP1 GLI3 GLRA1 KIF7 ARID1B PTEN COMP CLCN5 SOX9 GPC3 BRIP1 COL2A1 DYNC2LI1 CHMP1A NSD1 BPNT2 GSC NFIX MYH3 LGI4 NEB EXT1 BPTF ATP7A COLQ MYH8 SDHB ORC6 GAN NT5C2 MMP13 SLC35A2 CCN6 CEP120 RAB33B UCHL1 COL6A1 REEP1 ESCO2 SLX4 GLB1 BCOR INPPL1 KIF5A BRAF RAD21 CAPN3 DHODH GABRG2 ATRX PSMB8 FANCA WDR60 DSTYK SLC39A14 ARSB FA2H RAB23 GEMIN4 EVC2 SLC18A3 XRCC2 TNNT3 GMPPB OFD1 MYO9A GDF5 COL5A2 CRTAP OCRL SCN1B MAGEL2 GTF2IRD1 UFD1 LETM1 COL6A3 SDHD FANCB MEGF8 SNORD115-1 CTC1 AP4B1 HACE1 PIGY FANCM AGRN FLT4 SELENOI FKBP10 TONSL GPHN PPP2R5D C12orf57 EP300 POU3F4 KIF1A EXTL3 SNRPN CUL7 PHF6 CLIP2 COMT POR TBC1D7 ZFYVE27 CLCN7 C19orf12 BMPR1B MAFB ATP6V0A2 ERLIN2 NANS ENPP1 HIRA GJC2 TGFBR2 AKT1 PTDSS1 CPLX1 CREBBP UGP2 LMBR1 HPGD DNAJC21 SLC25A1 HBB CHRM3 TPM3 MATN3 EZH2 NOG TRAPPC12 RAB18 MAD2L2 SPART SH3PXD2B VPS13B SCN9A GLRB SMARCE1 TGFB1 CHSY1 PHEX PWRN1 KMT2A ERMARD PIGN PIGT NIPA1 COL1A2 ARID2 SCN2A TIMM8A TNNI2 CDC45 XYLT1 GFPT1 NALCN UFSP2 ATP6AP2 CDC6 RECQL4 SMAD3 HDAC8 PALB2 ASAH1 CCDC8 ERLIN1 DHCR7 KLHL41 GPC6 ACTA1 MASP1 MYO18B RTTN COL6A2 IFT172 AIFM1 GBA2 EIF2AK3 NGLY1 SMARCD1 SLCO2A1 PIGL TPM2 RNU4ATAC B3GALT6 AMER1 TUBB3 SALL1 FZD2 FLNB PUF60 WASF1 DYM GMNN IFT52 CANT1 COLEC11 MFN2 PLOD2 SPG11 RREB1 DDRGK1 AP4M1 ARFGEF2 UBE3B SELENON SLC39A8 COL12A1 MKKS RSPRY1 TRIM2 ALG9 GABRA1 FIG4 GALNS FLNA DONSON MAP3K7 TMTC3 IFT57 SMARCB1 FANCD2 AEBP1 COL10A1 LIFR TRPV4 BAZ1B COL9A1 FLNC HYAL1 BHLHA9 SMOC1 TBX4 COL1A1 EBP GP1BB NEDD4L NONO MYH7 EFL1 RPL13 ERCC1 RAD51 ANO5 COL9A3 SRD5A3 CENPJ ATAD1 PIK3R2 MAP2K2 GNPTAB CHST3 EXOC6B ZBTB20 ECEL1 RETREG1 AP4S1 SF3B4 COLEC10 EXT2 GJB2 CBS KAT6B RAD51C SLC35A3 STXBP1 IDUA NKX3-2 TBX1 CD96 HOXD13 COL9A2 CYP27B1 SETD5 MYL2 SNORD116-1 WNT5A SERPINF1 CHAT SERPINH1 CDT1 ATP6V1A FBN1 IL6ST TBCD HOXA11 ATP6V1E1 CSPP1 PSAP ARL6IP1 ZSWIM6 IARS2 COL11A1 CYP2R1 ANKLE2 HSPG2 SNRPB SETD2 AARS1 IHH SLC34A3 KDM6A BAG3 OSGEP SHOX CCDC47 LIMK1 B4GALT7 PAFAH1B1 FBN2 FANCL AFF4 KLHL9 SLC6A9 ELN SCN1A PWAR1 ATR PORCN ADGRV1 CHRNG FGFRL1 FUT8 BICD2 GDF6 ALDH18A1 PNPT1 FGFR1 ACAN NSDHL SOX11 KANSL1 TBX15 SLC5A7 EVC TELO2 TNFSF11 HRAS DAG1 MCOLN1 FGFR2 PITX1 MMP2 FGD1 VPS33A COL13A1 ZC4H2 FLI1 NF1 MAN2B1 GPC4 FKRP NRAS SKI MIR140 MCTP2 ARVCF KIAA0586 COG1 NDN KRAS RYR1 SLC35D1 GALC KY PUS3 VEGFC CNTNAP1 WNT7A UBE2T TOR1AIP1 LMX1B STUB1 SMC1A ADAMTS2 HS6ST1 SPTBN4 FGFR3 ALG14 PYCR1 RFC2 ERCC4 PSMD12 INPP5K SLC6A5 SDHAF1 SIL1 GJA1 SNAP25 DPAGT1 ARNT2 NSD2 DVL1 LMNA GPX4 FBLN1 GORAB JMJD1C GRIA3 VDR ERCC6 SIX1 BRCA2 DVL3 DDR2 KIF22 BRCA1 FGF9 DPM1 ZNF469 PCDH19 SOX4 GNPTG GABRD B3GAT3 COL5A1 SLC26A2 ARID1A TCTN3 CPT2 SLC52A3 CFL2 TRPS1 USP9X RUNX2 SEC24C ATL1 DYNC2H1 FN1 CTNS PYCR2 SYT2 LAMB2 PRMT7 FANCE YWHAE VAMP1 SMARCC2 GLI1 RBM8A RFWD3 ALG2 SHROOM4 WDR35 SLC10A7 NIPBL CHD4 LMOD3 NOD2 CHST11 PIEZO2 CTDP1 SCARF2 FANCF LONP1 NPAP1 HTT RAB3GAP2 SMC3 SFRP4 CYP19A1 FANCG YY1 PTRH2 CAPN1 FANCI APC2 EYA1 ORC1 CYP7B1 APC RTN2 RPS15A SLC2A10 OBSL1 MAP2K1 EXOSC3 HUWE1 ANO10 SMARCA4 HACD1 POMT2 ITGA7 HERC2 SMO MYOT PSAT1 DMP1 DPF2 LOXL3 NOTCH2 DYSF GATA1 SDHA EIF4A3 GTF2I LRP4 CA2 UNC80 COG5 RMRP ADGRG1 HCN1 WNK1 RPL10 THRA ORC4 MKRN3 IFIH1 CLTCL1 SAMD9L SPAST FANCC AP4E1 STX1B TBL2 SIK3 PEPD ARF1 VAC14 FHL1 PTH1R BGN ZMPSTE24 MBTPS2 POMT1 MAP3K20 MAP1B TRIP11 GUSB AP3B1 COL3A1 LARGE1 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 FGFR3 MMP2 LIFR NOD2 HSPG2 MYH3 PIEZO2 PHF6 FLNA PSMB8 ERLIN2 FHL1 AMER1 NT5C2 ERCC1 GLI3 PPP2R5D SCARF2 BCOR PIGN CHRNG HP_ABNORMAL_MAST_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAST_CELL_MORPHOLOGY TET2 KIT SRSF2 CBL CYP26C1 RUNX1 ASXL1 HP_DEVIATION_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_TOES PTCHD1 ACSL4 TWIST1 FGFR1 DACT1 PRDM5 LIMK1 RFC2 PIGH CLCN4 ACVR1 NONO PTEN EIF4A3 GTF2I ALG3 FTSJ1 FGFR2 USP27X PPP1R15B ELN KCNN3 UPF3B COL1A2 FGFR3 CLIP2 B3GALT6 ATP6V1B2 SALL1 RAB39B HCFC1 SLC29A3 SF3B4 KCNH1 ARHGEF6 CHST11 BMP2 ERF DYRK1A ALG13 CXorf56 AGTR2 CDKL5 SCARF2 AEBP1 IQSEC2 AKT1 PAK3 HOXA13 TGFBR2 SRY WWOX ARX RSPRY1 ZNF41 TCF12 IL1RAPL1 FGF9 TRMT10A USP7 FRMPD4 ZNF711 ZNF469 YY1 FLNA FLI1 DLG3 MLXIPL SYP RNF6 TBL2 C2CD3 ERMARD NUP107 GDI1 KCNJ2 DMD SLC9A7 CNKSR2 CHSY1 RPS6KA3 MID2 CKAP2L FHL1 SATB2 GDF5 IL11RA ATL3 USP9X BAZ1B MYH3 XYLT1 BMPR1B TSPAN7 SIN3A HOXD13 MECP2 TP63 RBBP8 GTF2IRD1 COG8 MED12 ZNF81 SLC16A2 DLEC1 HP_ABNORMALITY_OF_VITAMIN_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_METABOLISM CCN6 FARSB BCO1 SUCLA2 MMAA MTR CUBN TTR ACOX2 LMBRD1 KCNJ11 GUCY2C SIM1 CLCN5 FASLG CYP7A1 PRDX1 MMAB ABCC8 CASP10 CTNS EPHX1 FAS MMACHC RPS10 RASGRP1 SLC30A10 GPR35 MST1 HCFC1 MTHFD1 VDR CBLIF BAAT ENPP1 TTPA UCP2 CYP2R1 ACSF3 MCEE LRP5 OCRL SAR1B CCND1 MTRR RPL11 SLC52A1 MMADHC PRKCD TCF4 TJP2 SLC34A3 MMUT DMP1 ABCD4 CYP27B1 HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM LRP5 OCRL FARSB RPL11 CTNS TCF4 RPS10 VDR SLC34A3 ACOX2 DMP1 ENPP1 GPR35 MST1 CLCN5 CYP2R1 CYP27B1 HP_LOW_LEVELS_OF_VITAMIN_D http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_D OCRL ACOX2 FARSB GPR35 RPL11 MST1 TCF4 RPS10 HP_LOW_LEVELS_OF_VITAMIN_E http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_E SLC30A10 GPR35 TTPA MST1 TCF4 HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM SLC30A10 CYP7A1 GPR35 TTPA MST1 TCF4 HP_POLLAKISURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLLAKISURIA FA2H FMR1 HOGA1 NBN DYSF ALDH18A1 HP_DYSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSURIA SPART APRT HPRT1 AGXT BNC2 WFS1 IKZF1 HLA-B GPR101 CISD2 HOGA1 AIP HMBS HP_ANURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANURIA CFB ACE CFI CFH THBD CD46 C3 CFHR1 AGT CFHR3 AGTR1 REN HP_OLIGURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGURIA SLC25A20 CCN2 CCR6 APRT CAV1 IRF5 HLA-DRB1 HP_NEOPLASM_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYMUS CDKN2B CDKN2C PTEN CDKN1B CDKN1A MEN1 AKT1 HP_LIVER_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIVER_ABSCESS NCF2 CYBB CYBC1 CYBA NCF1 CTSC NCF4 HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION GATM VDR SLC34A1 TBCE PHEX PGAP2 GNAS COL4A3 PRKAR1A GALNT3 FAH NAB2 GCM2 STX16 PDE4D SLC34A3 CLCN5 ALDOB CACNA1S INPPL1 FAM20C RYR1 NRAS CTNS ALPL KRAS GNAS-AS1 LMNA CDC73 ABCC6 TCIRG1 FGF23 PTH1R DMP1 CASR SLC2A2 SLC9A3R1 AP2S1 ENPP1 TNFSF11 KCNJ18 GNA11 CYP2R1 HRAS SUCLG1 STAT6 SNX10 PTH CLCN7 HNF4A OCRL ZMPSTE24 TNFRSF11B MEN1 FAM111A CYP27B1 GABRA3 HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL MDH2 FAM20A PHEX GNAS PRKAR1A DLST SDHB SDHAF2 STX16 VHL RET PDE4D GCM2 NF1 SDHA CASR CDKN1B GNAS-AS1 MAX CDC73 RNU4ATAC KIF1B CLDN19 AIRE SLC25A11 VDR SDHD PTH CYP2R1 OCRL SDHC FH TBX1 MEN1 CDKN1A CDKN2B TMEM127 CDKN2C SOST CYP27B1 HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE BAP1 CYBA IL2RA XPC MPLKIP LBR BIRC3 NLRP3 BLNK NOP10 CD79A XPA FGFR2 TP63 IL2RB CD19 CYSLTR2 MEFV ERCC5 IL12A-AS1 CASP10 CTLA4 MLX MBTPS2 IGHM CD79B GPR35 NIPBL PKP1 GTF2H5 WRAP53 DDB2 ADAM17 NOD2 HLCS BTK IGSF3 CCR1 LRBA MALT1 UROS IL6 AEBP1 KLRC4 PTPN22 HLA-B TCF4 RAG1 ATOH7 BTNL2 SMC3 GTF2E2 RNF113A BCL10 ICOS CYBC1 PLEC GNAQ GNAS B2M GJB2 CST6 IKBKG CERS3 FASLG RAD21 TNFRSF1A C4A IKZF1 UBAC2 ERCC2 FAS SCN9A PSMB8 FOXC2 TFRC MST1 NCF4 SLC39A4 PAX6 FOXE3 GJB6 RTEL1 MMP1 TNFAIP3 SLC29A3 HLA-DPB1 HLA-DPA1 LRRC8A TBX4 TINF2 TLR4 APOE REV3L HLA-A POLH SMC1A USB1 VPS33A GNA11 ALOXE3 IL12A SF3B1 PSMB9 WIPF1 PLXND1 NCF2 ERCC3 TRAF3IP2 HLA-DRB1 ALOX12B SAMD9 CAPN5 DNASE1L3 LMNA NLRP1 IL10 IL12B MSMO1 RASGRP1 PTPN2 PNPLA1 ST14 NPM1 MIF WAS AIRE STAT4 IL23R ERF ERAP1 FOXP1 TNFRSF13C DKC1 BTD PLCD1 RNF125 COL7A1 PLG CRLF1 FGFR3 IGLL1 ABCA12 CLTCL1 TERC PRTN3 TNFRSF13B SETD5 CYBB GSN TERT CR2 TARS1 TKT RAG2 STX16 ANKRD55 PARN ERCC6 NTRK1 ZEB1 IL6ST CD247 FERMT1 TCF3 PSMB4 KMT2A PIK3R1 PIGN ALDH3A2 STUB1 AP1B1 NCF1 TGM1 NIPAL4 NHP2 IARS2 ZMPSTE24 LACC1 ERCC4 CTC1 MAB21L1 PRKCD HDAC8 GATA1 HP_EPISCLERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISCLERITIS SLC29A3 PSMB8 NLRP3 DNASE1L3 MBTPS2 HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES RBM10 PEX14 SHANK3 GDF1 PHF6 TBX1 PEX11B LIG4 PEX16 LAS1L MAP3K7 MAP2K2 ERCC4 FGFR2 OPHN1 BRAF GRIA3 SEC23A TCF12 EDA PEX1 PEX5 GHR FLNA SLC25A24 PEX6 UBE2A PEX26 NSUN2 KCNJ8 CITED2 PHF8 ZIC1 GATA4 PEX19 PDGFRB TTC37 GATA5 BSCL2 FGFR1 HDAC8 FREM1 KIF11 PEX10 TAF1 ESCO2 KRAS CHD8 FLT4 SP7 CAV1 SOX11 PEX13 PIK3R1 GJA5 ABCC9 FHL1 PTH1R KLHL7 JAG1 PEX12 MASP1 PRMT7 HBA1 RAB23 FGFR3 MAP2K1 PEX3 FOS NKX2-5 RBMX ASXL1 ZFPM2 TWIST1 ZSWIM6 SUZ12 ARX GATA6 FBXO31 AGPAT2 PEX2 TRAPPC9 PPARG ANTXR1 CAVIN1 RPS6KA3 PITX2 NKX2-6 HBA2 HP_PALPEBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPEBRAL_EDEMA SNX14 GSN CDH11 SHANK3 CAMTA1 PEX2 FRMD4A FRG1 PEX5 RIN2 ABCC9 AIP SMCHD1 GNPTAB FOXG1 ZNHIT3 DUX4 SOX18 KIF1A DNMT3B KPTN KCTD1 ADAMTS2 GPR101 ACTG1 PSPH ANTXR1 ACTB SLC29A3 HP_FEMORAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_HERNIA DVL3 EHMT1 ATP7A FZD2 PTDSS1 TBX1 SLC2A10 SMAD4 DVL1 SLC26A2 COL2A1 COL1A1 WNT5A ADAMTS2 TRIP11 COL1A2 FANCB DIS3L2 HP_ABNORMAL_LOCALIZATION_OF_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY RBM10 PAX2 SMS KMT2D FANCE PORCN NRIP1 DACT1 DHCR7 RAB3GAP1 LIMK1 FANCM RFC2 ERCC4 FANCD2 RTTN SMARCC2 SC5D FANCL RAF1 AFF4 ARID1B DDX59 RBM8A GTF2I RFWD3 CCNQ FGFR2 LRP4 SMARCD1 ELN KRAS EXTL3 DEAF1 PTPN11 ESCO2 BRIP1 CLIP2 RAB3GAP2 POR HNF4A PIK3R2 RAI1 GLI3 SALL4 VANGL1 CHD7 HRAS MAFB GREB1L COLEC11 TBX22 SOX11 DKC1 ADAMTS3 RAD51C PUF60 BRCA2 SEMA3E SRY FANCF HNF1B HMGA2 RARB DNA2 BRCA1 FLII JAM3 FANCC HOXD13 XRCC4 CHST14 SOX4 FANCG C8orf37 FUZ NIPBL TCTN3 HNRNPU MAD2L2 SLX4 SON LEMD3 MAP3K7 MLXIPL RBBP8 SMARCB1 RECQL4 TBL2 SALL1 ARID1A NRAS FANCI BRAF MCTP2 STRA6 SMARCE1 MNX1 WT1 AKT3 CCBE1 FANCA DSTYK APC PBX1 ZIC3 DSE FGFR1 RPS26 SSR4 IQSEC2 SPECC1L RAB18 CHN1 ARID2 BAZ1B XRCC2 TBC1D20 CWC27 SMARCA4 SPINK5 DYNC2LI1 UBE2T SMOC1 RPL11 KDM6A SNRPB THOC6 GTF2IRD1 FAT4 PALB2 STAG1 FANCB DPF2 CD96 RAD51 CCND2 HP_COGNITIVE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGNITIVE_IMPAIRMENT PDGFRB FGFR3 CAMTA1 GLB1 CHD2 EDN3 SYNJ1 CLN6 FMR1 TOMM40 GBA SLC13A5 REEP2 MT-CO1 DAOA TSFM XPA EPCAM SPTBN2 PLAU MEFV ATP1A3 PINK1 TBP COASY MAPT UCHL1 TSC1 TYMP SCN8A RBM12 SNCA PEX1 GLA CHMP2B CCR1 WWOX MT-TL1 MT-ND4 PDGFB MLH3 MSH2 NUP133 APOL2 NR4A2 KCNQ3 VPS13A CFH GIGYF2 WDR45 DNMT1 AKT1 SDHB TTPA XRCC4 CCDC78 PEX10 NUP107 CACNA1B CHRNG MAG KCNT1 HGSNAT C4A ERCC2 ALDH18A1 VPS13C GABRG2 ABCA12 SQSTM1 PLP1 PEX12 CUX2 FA2H PNKP ARSA ROGDI WFS1 PTPN22 MFSD8 PSEN2 JAM2 DGUOK LZTFL1 DCAF17 SUFU SCN1B NHLRC1 EEF1A2 KCNB1 UBQLN2 GNAS SDHD HTRA1 NF2 FAS ZFYVE26 HNRNPA2B1 NPC1 CTC1 MYH3 SLC2A3 TARDBP SEC61A1 PSAP PLA2G6 TTC19 CLN5 POLG SMO HNF1A SNCAIP LRRK2 PRKCG MT-TW ATP7B CLTC PRDM8 SUMF1 BAP1 B3GALNT2 TSC2 IRF6 SPG7 COMT CYP2U1 GALC STAT4 ALG9 IL23R PLAA ERAP1 UBA5 ATP13A2 DMPK NOS3 UQCRC2 RBM28 NPHP1 DNAJC5 TGM1 DOLK NKX6-2 MSH6 PMS1 CFHR1 ATN1 DCC OPA3 PRKAR1A MT-TF SEC23B PARS2 IRAK1 CHRM3 RAB39B DNAJC6 GSN MT-ND6 RRM2B HLA-B TTC8 LMNB1 COL18A1 DDB2 APP ATXN7 PLK4 ERCC4 PRKRA SLC2A1 PSEN1 SCN9A PRDX1 ERCC6 EIF2B1 PEX13 MEOX1 RPS20 PTEN NOTCH3 FGF12 COL5A2 NDUFAF3 TREM2 BBS10 ATR TRAIP SLC7A7 SCN2A TIMM8A FTL GDAP2 PAH EIF4G1 AP5Z1 KCNA2 NBN DNM1L ADA2 KRT6A MTO1 LIPN ALG2 FGF14 CST3 CTSH MT-ND1 SDR9C7 ITPR1 C9orf72 DNM1 PIK3CA DRD3 EIF2B3 CHCHD10 TREX1 SCN3A GPC4 ATXN10 CEP152 NAGS NDUFB8 GBA2 PEX16 PMS2 UBTF MAOA ERCC5 ATXN8OS CYP4F22 FUS SLC18A2 TBCK PPP2R2B PDE10A KRT81 SPG11 SCN1A MTHFR IFT140 GJB6 JPH3 GRID2 PODXL SPAST ABCD1 PEX19 FKTN GABRA1 BBS12 BDNF MT-CYB NAGLU PHOX2B PPT1 POMGNT1 RNF216 KCNJ11 TGFBR2 MARS2 COL4A1 HCRT PLEKHG4 MMACHC MBTPS2 TMEM106B ABCA7 SDHAF1 AFG3L2 IKBKG POMT1 MFN2 VPS37A SEMA4A HEXA ATP6V0A2 TWNK POLG2 HTRA2 TMEM240 MT-TS2 CYFIP2 EIF2B5 TBC1D24 VPS35 UBA1 CYP7B1 ATXN3 HTT TRAF7 GMPPB CACNA1G GRN EPRS1 PNPLA6 TYROBP TBK1 CRLF1 PEX11B BSCL2 VCP VAMP1 BMPR1A CENPJ ERCC3 SLC6A1 SMC3 ERF PRICKLE1 MEN1 APOE GNPTAB ATRIP BBS5 NDUFA6 ATM PRKAR1B PRNP MT-ATP6 SMC1A ADAMTSL4 ACTB ACSF3 SMARCB1 SPART CERS1 STXBP1 TUBB4A ITGA7 CNTNAP2 MLH1 ATXN2 DCTN1 ALOX12B SLC20A2 ARL6IP6 RBBP8 CFAP43 MTFMT ATP6V1E1 PDE11A GABRA5 C12orf65 ATXN1 SMARCE1 MTOR POMT2 GM2A MCOLN1 KCND3 GBE1 ATP1A2 LAGE3 SLC30A9 CFHR3 DSTYK HEPACAM DNAJC13 POMK TNFSF4 EIF2B4 HLA-DRB1 OCRL IL12A-AS1 CNKSR2 CTSK AARS2 SLC1A2 UGT1A1 ADGRV1 MT-TC KMT2B GDNF EPM2A WDR4 C19orf12 CP ADD3 MT-TK TRAK1 XPC HLA-DQB1 KLRC4 ERCC8 PEX6 HSD17B10 MT-TQ COQ2 GABRA2 SCO2 NDUFS2 KMT2A FGD1 TLR3 MYD88 TRPM7 GCH1 GJC2 UBAP1 MT-CO3 TUBA4A ZNF365 ROBO3 KIF5A LAMA2 APTX DMD LAMP2 SDHC SLC25A4 CCM2 KCTD7 CISD2 SPP1 HFE PRRT2 CLN3 QDPR STUB1 MT-TH CACNA1A DARS2 PEX14 PORCN MT-RNR1 IL12A XPR1 SGPL1 KRT16 METTL23 MYORG CEP120 GCDH RNASEH1 HTR2A NECAP1 SZT2 KRT86 SLC25A15 AARS1 OSGEP UCP2 ALG12 A2M YWHAG CSTB MT-ND5 NFIA IDUA PCDH19 PTS GABRD SULT2B1 FBXO7 NDP RMRP LTBP4 TK2 GJB2 FBN1 TUBB2B P2RY11 MT-CO2 DHDDS RAB27A KCNQ2 CTNS DNAJC3 MECP2 SNORD118 HCN1 PEX2 RTN4R ASAH1 SYNGAP1 BRAF OPA1 CTSD HNRNPA1 ABCA5 ADH1C SLC25A13 CHI3L1 SIM1 ACTL6B GDF6 CSF1R MT-TP SRCAP SURF1 ATP6V1A CLCF1 NAGA MATR3 PDCD10 DSG4 PANK2 KCNC1 PEX5 HSD17B4 NRAS CTDP1 AUH MPO GDF3 HIBCH SERPINI1 CPLX1 NTRK2 MYO1H PEX26 ITM2B CLN8 TTC37 NPC2 MT-TV NIPAL4 CYP27A1 ABCC8 UBAC2 STARD7 AP2M1 TPRKB SPG21 GTPBP3 FKRP SYN2 PARK7 PCNT NOTCH2NLC EIF2B2 ALOXE3 AP3B2 TLR4 APOL4 SOST KATNB1 FAN1 NUS1 CENPE AASS GNE TERT KLLN GRIN2D TTR ATG5 SDHA SORL1 SCARB2 KRT83 IL10 FLNA SPR IBA57 TINF2 LARGE1 ARV1 RIN2 HNF4A COL5A1 HEXB CTSF LAMA1 SDCCAG8 WDR73 BBIP1 MOG PRKN TP53 KRT17 TP53RK KRAS TIMMDC1 PPP3CA SNCB GABRB2 CUBN COL1A1 STX1B MPDU1 SLC5A7 CLMP MT-TE GABRB3 USF3 GDF5 PEX3 MAPK10 KRIT1 KRT6B ECM1 AIFM1 ALG13 PGM3 COL3A1 GLUD2 HP_NEOPLASM_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_HEART TSC1 ACTG2 PTCH1 PRKAR1A TSC2 LMOD1 PTCH2 MYH11 SUFU MYLK IFNG MYH8 HP_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_STENOSIS EFEMP2 JAG1 SMARCAL1 IL12A LIMK1 RFC2 KCNJ5 VHL PCNT LDLR ENG JAK2 ESR1 GTF2I KRAS STAT1 GDF2 SMAD3 ABCC6 NOTCH3 MFAP5 GCDH TGFBR3 POU3F4 MEFV ELN ACTA2 IL12A-AS1 CTLA4 MLX CTNNB1 LMNA LOX IL10 GATA6 CLIP2 IL12B TMEM127 APOE XYLT1 ABCA1 LDLRAP1 THPO STAT4 SH2B3 SCNN1B IL23R GATA4 TGFB3 CBS ERAP1 FBLN5 GLA ENPP1 SMAD4 CCR1 BRAF APOB ACVRL1 GDNF AEBP1 KLRC4 ATP7A FBN1 PTPN22 YY1AP1 COL3A1 SDHB TGFBR1 TGFB2 APP ABCG5 TP53 XYLT2 MYH11 MPL LIPC ABCG8 FIG4 PRTN3 CALR MYBPC3 ZNF687 HLA-B BSCL2 SERPIND1 NF1 SLC2A10 PRKG1 MLXIPL GUCY1A1 PIK3CA ARL6IP6 TBL2 SMPD1 CYP7A1 PIK3C2A C4A CEP19 CAV1 UBAC2 NR2F2 BEST1 TGFBR2 VAC14 MYH7 RET IKBKG MYLK AGXT COL4A1 BAZ1B SCNN1A ANGPTL6 PCSK9 FOS MAX MAT2A HLA-DPB1 PPARG ZMPSTE24 HLA-DPA1 AGPAT2 TET2 KIF1B SDHD TLR4 ADA2 GTF2IRD1 SON ACTG1 FOXE3 THSD1 SCNN1G CAVIN1 ACTB NAGS HTRA1 PIGA FAS CRELD1 HP_CAROTID_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAROTID_ARTERY_STENOSIS ZMPSTE24 ABCA1 YY1AP1 AEBP1 LMNA HP_EXSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXSTROPHY TP63 CDH11 ISL1 PAH UPB1 KRAS HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM MAP3K8 PIK3CA ERCC6 PRKN SFTPA2 IRF1 ERBB2 EGFR CASP8 SLC22A18 FASLG PPP2R1B KRAS MUC5B TERT KEAP1 DICER1 SFTPC CYP2A6 BRAF HP_ASYMMETRIC_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_GROWTH PORCN DACT1 PSMD12 PIK3CA MNX1 RERE KCNAB2 PTEN KRAS ARL6IP6 KCNQ1OT1 MAPRE2 NRAS H19 SALL1 MIR140 AGGF1 SETD5 COL2A1 GABRD CDKN1C IKBKG AKT2 PRDM16 EFNB1 SKI IGF2 USP9X HRAS TUBB GNAQ KCNQ1 ENPP1 TRPV4 BPTF AKT1 HOXD13 RNF125 EBP PTHLH ACTB DMP1 HP_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIATROPHY EFNB1 MIR140 EBP BPTF PSMD12 HP_LOWER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_ASYMMETRY PORCN SKI DACT1 USP9X MNX1 RERE TUBB PTEN GNAQ KCNAB2 PIK3CA ENPP1 TRPV4 KRAS AKT1 MAPRE2 SALL1 AGGF1 SETD5 COL2A1 GABRD ACTB DMP1 PRDM16 HP_UPPER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_ASYMMETRY HOXD13 PTEN PORCN ACTB MIR140 PTHLH AGGF1 TUBB AKT1 MAPRE2 HP_SPINAL_CORD_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_LESION FBLN1 NOTCH2 SH2B1 RAI1 CTNNB1 PDCD10 RUNX2 TBX6 CCM2 NOTCH3 ACY1 NRAS DKK1 LEMD3 KRIT1 GLRX5 ABCA1 HMGA2 DDR2 RTN2 NFIA SETD2 KDM1A WASHC5 SLC33A1 CCNQ HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM CHEK2 PIK3CA CDC73 MINPP1 SDHD VHL TSC2 KEAP1 APC SDHB SDHAF2 PMS2 NKX2-1 EPCAM NF1 CASP10 ATRX CTNNB1 PTEN TMEM127 IDH2 FOXE1 CDKN1B SDHC TP53 GPR101 HABP2 BRAF CYP11B2 MLH3 SLC26A4 MSH2 GDNF MSH3 FH LMNA KCNJ10 SEC23B EDN3 AKT1 CDH23 MEN1 FOXI1 CCND1 GCM2 WRN AIP TGFBR2 FASLG SDHA DAXX NRAS SRGAP1 FAS RET EPAS1 SEMA4A PDGFB SLC25A11 HRAS DICER1 MDM2 SEMA3D TRAF7 IGF2 SUFU GCGR CDKN1A PRKAR1A SLC12A3 CDKN2C FAN1 TG NF2 JAG1 BAP1 BICC1 DLST TERT KLLN SMO GANAB EDNRB BMPR1A CLCNKB RASGRP1 CACNA1S GNAS DNMT3A PKD2 USP8 DMPK SMARCB1 CDKN2A FLCN MSH6 PMS1 PKD1 MLH1 MDH2 SCN4A IDH1 KRAS GREM1 KCNE3 ECE1 TSC1 KCNQ1OT1 MAFA SEMA3C MAX KIF1B RPS20 CDKN1C USF3 NRTN KCNQ1 CASR SMARCE1 CYP11B1 PRKCD CDKN2B HP_ABNORMALLY_OSSIFIED_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_OSSIFIED_VERTEBRAE RSPO2 BMPER INPPL1 WNT3 LBR HSPG2 WDR35 TRIP11 FLNB IFT80 WDR60 SOX9 RMRP DYNC2H1 COL2A1 ALPL NKX3-2 RNU4ATAC WDR34 LFNG SLC26A2 HP_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARCINOID_TUMOR CDKN1B DAXX LMNA ATRX CDKN1A APC TSC2 MEN1 CDKN2B CDKN2C SDHD TSC1 HP_CARDIAC_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_DIVERTICULUM SEMA4A MSH6 KRAS PMS1 PIK3CA RPS20 MLH3 FAN1 MSH2 PMS2 TGFBR2 BMPR1A MLH1 EPCAM HP_BILIARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_NEOPLASM PSAP PTPN3 RNF43 GPR35 MST1 STK11 ARSA TCF4 HP_NEOPLASM_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GALLBLADDER PSAP GPR35 MST1 ARSA TCF4 HP_AMAUROSIS_FUGAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMAUROSIS_FUGAX SH2B3 PTPN22 SEMA4A KRAS MARCHF6 ADRA2B MLH3 CNTN2 MSH2 PMS2 TGFBR2 BMPR1A EPCAM JAK2 NOTCH3 YEATS2 HLA-B MSH6 TET2 PMS1 MLX ADA2 CTNND2 TP53 IL12B PIK3CA MPL RPS20 FAN1 CALR SAMD12 MLH1 HP_LIPOATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOATROPHY LDB3 PLIN1 ACTN2 TNNC1 PDGFRB BSCL2 SGCD CSRP3 MYPN PSEN1 HAND2 BAG3 MYH7 FBN1 FKTN ANKRD1 WRN RAF1 LMNB2 TREX1 MYBPC3 LMNA CAV1 TAZ CRYAB RNASEH2C TNNI3 CLMP POLR3A NEBL ABCC9 SLC25A24 PSEN2 DES TAF1A TCAP RBM20 LAMA4 FLNA TMPO TNNT2 SCN5A TXNRD2 RNASEH2A DOLK BANF1 DMD PIK3CA FOS CAP2 ADAR RNASEH2B ACTC1 DSG2 TTN IFIH1 COL3A1 SDHA PPARG ZMPSTE24 GATAD1 SAMHD1 AGPAT2 PPCS MYH6 PLN VCL TPM1 ACTB RBM28 PIK3R1 CAVIN1 PRDM16 NEXN FHL2 FUCA1 HP_MUCOSAL_TELANGIECTASIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUCOSAL_TELANGIECTASIAE HLA-DRB1 AKT1 ATM PIK3CA SDHC LBR SLC52A2 NAGA GLA KLLN SMAD4 PCNA ENG DDB2 ACVRL1 XPC CCN2 XPA IRF5 CCR6 GDF2 ERCC3 SDHB PEX6 KIAA0319L ERCC4 ERCC5 CTSA SEC23B CAV1 SETX ERCC2 MASP1 GNAQ USF3 PTEN SDHD RNF168 HP_BARRETT_ESOPHAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARRETT_ESOPHAGUS RAD21 ASCC1 MSR1 FH CTHRC1 HP_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDITIS IL23R MEFV IL12A HLA-B GATA4 C4A IL12A-AS1 ERAP1 UBAC2 TLR4 NR2F2 PRKAR1A CCR1 IL10 GATA6 FAS KLRC4 STAT4 CRELD1 HP_TELANGIECTASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA_OF_THE_SKIN SLC37A4 PORCN BLM TERT ELMO2 IRF5 CYLD LBR NAGA ENG DDB2 ANTXR2 SLC2A10 NOP10 CAV1 CCN2 WRN PIK3CA PARN XPA ARL6IP6 XRCC4 GDF2 ERCC3 LIG4 SOX18 KIAA0319L ERCC5 DAXX ATRX GNPTAB ERCC2 CIB1 NPM1 GPR35 SDHD MST1 ATM IKBKG WRAP53 TMC8 ABCC6 SLC29A3 PCNA ARX HLA-DRB1 NHP2 RTEL1 VHL GLA ENPP1 SMAD4 ACVRL1 CCR6 XPC CDH23 COL3A1 USB1 ERCC4 TINF2 CTC1 TCF4 LMNA TMC6 FERMT1 DKC1 WNT10A POLE USP8 TERC RASA1 IL7 HP_ABNORMALITY_OF_THE_PREPUTIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PREPUTIUM FANCE FANCG FANCM ERCC4 XRCC2 MAD2L2 SLX4 FANCC FANCL DSP DKC1 RFWD3 RAD51C PQBP1 BRCA2 CTCF UBE2T ERMARD FANCF FANCI FANCD2 BRIP1 FANCA FERMT1 PALB2 BRCA1 FANCB RAD51 HP_UROGENITAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_FISTULA RIPPLY2 KMT2D ITGA8 DACT1 TCOF1 MKKS WDR35 UBR1 FGF20 CDK8 RECQL4 IFT80 CCNQ WDR60 KIF7 SALL1 FREM1 SALL4 OCRL HES7 LFNG DYNC2H1 IL10RB LONP1 SPINT2 TCTN3 JAK3 MNX1 POLR1C GREB1L MESP2 RET POLR1D WDR34 POR KDM6A DLL3 PIGN HP_RECTAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_FISTULA SALL1 FREM1 SALL4 DACT1 IL10RB LONP1 SPINT2 TCTN3 JAK3 TCOF1 MNX1 POLR1C MKKS UBR1 POLR1D CDK8 RECQL4 CCNQ KIF7 PIGN HP_PERITONEAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONEAL_ABSCESS PALB2 SMAD4 TTC7A BRCA1 BRCA2 TP53 KRAS PALLD CDKN2A HP_CALCIFICATION_OF_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_CARTILAGE ZBTB20 TNFRSF11B PEX5 MGP PEX2 ANKH HGD SLC26A2 DDR2 HP_PULMONARY_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EDEMA MT-CYB KIF20A TNNI3 MYPN HELLPAR FLNC CFH EPHB4 PRKAG2 FSHR CD46 TNNT2 CFI MYBPC3 HP_ECLAMPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLAMPSIA CFH PPARG STOX1 LMNA CD46 HELLPAR NOS3 CORIN CFI HP_TOXEMIA_OF_PREGNANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOXEMIA_OF_PREGNANCY PPARG STOX1 LBR LMNA HBA1 HBA2 HELLPAR CORIN EP300 CFH SLC25A20 DHPS CYP11B2 F5 CD46 NOS3 ADGRG6 NR3C2 CFI CYP11B1 HP_NEOPLASM_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARYNX MLH1 MSH2 MSH6 RSPO1 CAT HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM ERCC6 PRKN SFTPA2 IRF1 MLH1 EGFR TP53 SLC22A18 FASLG CAT TSC2 NAB2 KEAP1 DICER1 TSC1 REST TRPV3 CYP2A6 PTEN WRN STK11 C11orf95 MAP3K8 MSH2 BAP1 ERBB2 MSH6 POU6F2 MBTPS2 RSPO1 RELA PPP2R1B SLCO2A1 SFTPC H19 DIS3L2 PERP CASP8 PDGFRB RB1 EWSR1 STAT6 KRAS MUC5B TRIM28 TERT NOTCH3 GPC3 WT1 TRIP13 HPGD AKT1 PIK3CA MST1R LMNA BRCA2 BRAF HP_DYSMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMENORRHEA PPARG INHBA LMNA BSCL2 AGPAT2 CAV1 GPR101 CYP17A1 FOS ANTXR1 CAVIN1 CYB5A AIP HP_METRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METRORRHAGIA CDH23 TBL1XR1 NPM1 ZBTB16 NUMA1 STAT3 NABP1 BCOR RARA F5 FIP1L1 USP8 STAT5B PRKAR1A PML IRF2BP2 FLI1 HP_MULTIPLE_GLOMERULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GLOMERULAR_CYSTS MT-TL1 MT-ATP6 NPHP3 MT-ND1 MT-ND3 HNF1B UMOD MT-TK MT-TV MT-TW MT-ND5 MT-ND4 MT-ND6 MT-ND2 HP_ODONTOGENIC_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ODONTOGENIC_NEOPLASM APC PTCH1 PTCH2 OCRL OFD1 FGF3 SUFU HSPG2 HP_DEATH_IN_EARLY_ADULTHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_EARLY_ADULTHOOD CST3 BCS1L KRAS LIMK1 RFC2 ALMS1 BAZ1B VPS13A MLH3 SLC9A6 MSH2 ACTB GTF2I PMS2 TGFBR2 TBL2 EPCAM ELN MSH6 RPS6KA3 PMS1 POLG TYMP GTF2IRD1 CLIP2 PIK3CA SCN4A FAN1 APP MLH1 HP_MYOSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOSITIS HNRNPA2B1 IL23R RNASEH2A IL12A HLA-B CAPN3 ERAP1 STING1 CCR1 PSMB9 ADAR FOXP3 SPP1 RNASEH2B KLRC4 IFIH1 TREX1 MEFV PSTPIP1 SAMHD1 TNFRSF1A C4A IL12A-AS1 RNASEH2C UBAC2 TLR4 IL10 STAT4 PSMB4 IRAK1 FAS LAMA2 HP_OVARIAN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_NEOPLASM RNF43 IDH1 KRAS CTNNB1 WT1 BRCA2 NR5A1 KEAP1 DICER1 PALB2 RAD50 TP53 RAD51D PTEN WRN PMS2 C11orf95 RAD51C TGFBR2 SRY STAG3 FLI1 EPCAM SMAD4 MAP3K1 PRKN ZFPM2 AKT1 RELA BRCA1 CDH1 WWOX FGFR2 PTCH2 NR0B1 DMRT3 IDH2 VAMP7 MRE11 PTCH1 INHBA CHEK2 EWSR1 BRIP1 DHX37 MLH3 PIK3CA DMPK MSH2 MSH3 GATA4 BARD1 MSH6 SOX9 PMS1 OPCML PALLD CDKN2A LMNA NBN WNT10A FAN1 SUFU RAD51 MLH1 HP_LEYDIG_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEYDIG_CELL_NEOPLASIA STAR MRAP MC2R NNT TXNRD2 HP_GERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERMINOMA FGFR2 CTNNB1 PRKN AKT1 OPCML IGF2 CDH1 STS KEAP1 DICER1 PIK3CA MAP3K1 HP_DYSGERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGERMINOMA FGFR2 PIK3CA CTNNB1 MAP3K1 PRKN AKT1 OPCML CDH1 HP_ENLARGED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_THORAX VPS33A CCDC8 BMPER PTPN11 LZTR1 RAB33B MRAS ZMPSTE24 P3H1 CUL7 TRAPPC2 FBN1 COL1A1 GATA4 EIF2AK3 A2ML1 WNT7A MAP2K1 RRAS2 RAF1 ACAN RASA2 GUSB COL2A1 CHST3 NRAS COL5A2 FUCA1 BRAF MYH3 RIT1 CILK1 OBSL1 LRP5 NAA10 INTU LMNA TRIP11 PCGF2 CBL RRAS BCOR KRAS COL5A1 TNFRSF11B DYM WNT4 KIF22 SOS2 XYLT2 TRPV4 POP1 SOS1 HRAS GPKOW LBR HP_CHRONIC_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATIC_FAILURE SP110 HADHB ALMS1 RPGRIP1L AKR1D1 CC2D2A TCF4 HADHA TMEM67 INPP5E GPR35 MST1 EIF2AK3 ALDOB HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS SMS NKX2-1 CTBP1 GLI3 KRAS STAR KCNAB2 FANCL AFF4 ARID1B MAPRE2 ARX GPC3 BRIP1 POLE ATR MED25 DYNC2LI1 WRAP53 CHRNG FGFRL1 HSD3B2 COLEC10 TBX1 ORC6 HCCS PEX1 MTM1 PIEZO2 EVC PEX6 FGFR1 DCHS1 IGF2 OGT SETBP1 TFAP2A FGFR3 MTOR AR GATAD2B BCOR MAMLD1 SLX4 PEX10 GPC4 FRAS1 SUFU TMEM70 KMT2D C2CD3 CDKN1C SOX2 RAD21 MCTP2 RSPO1 PITX2 ARVCF ATRX KIAA0586 FANCA RERE PEX12 SMCHD1 HBA1 PTPN11 SKI SOX9 EVC2 XRCC2 UBR1 WNT4 B3GLCT CYB5A SSR4 UBE2T TINF2 SMC1A LMNA UFD1 LETM1 FANCB WT1 RPL10 PEX14 RAC1 FANCM ERCC4 CDH11 RAF1 ZMPSTE24 EP300 LFNG NSD2 DVL1 SIN3A CUL7 COMT POR VAMP7 GMNN JMJD1C SMAD4 SRD5A2 FLNA HIRA DKC1 BRCA2 NELFA SETD5 DVL3 PAX6 SRY PTDSS1 CPLX1 NSUN2 NAA10 CREBBP TMEM94 NR5A1 RPL35A BRCA1 ZEB2 HOXD13 TERT TTC8 FZD2 PNPLA6 MAD2L2 SIX6 MED12 GATA4 FAT4 BRAF PEX13 POLR3A CDC45 EFNB1 NSD1 CDC6 KMT2A BDNF HUWE1 CYP17A1 ABL1 CILK1 PDE4D TUBB SPECC1L SEC24C BMP4 TAPT1 KDM5B HNF1B CTC1 PEX2 ISL1 HDAC8 PALB2 THOC6 HOXA13 RIPPLY2 CCDC8 FANCE DHCR7 MNX1 RTTN NOP10 PEX16 MYMK RFWD3 MKKS TBX22 HES7 MAP3K1 WDR35 ZFPM2 SRCAP WWOX COX7B KIF7 NIPBL SAMD9 HNF4A SALL1 PRDM16 KIFBP NEB DHX37 COLEC11 PEX5 ATPAF2 RREB1 FANCF PEX26 WASHC5 MESP2 ALG12 FIG4 SMC3 B9D2 PEX19 TTC37 FANCG PRKAR1A COG1 ACTA1 CYP11A1 RBBP8 FREM2 PSMD12 FANCI PIGN APC2 FANCD2 ORC1 TP63 MECP2 UBE2A MAB21L2 OBSL1 RTEL1 NDUFB11 FGFR2 FGF10 GP1BB CYP21A2 RAD51 CUL4B NOTCH2 DACT1 PEX11B PCNT ADAT3 LIG4 MID1 KLHL41 EPG5 HYLS1 ESCO2 PSPH NPM1 LMOD3 EHMT1 CDC42 KLHL40 RLIM CDCA7 RAD51C PQBP1 GLI1 DNAJC19 FOXC1 ORC4 GRIP1 KDM1A ARCN1 DLL3 TERC CCDC22 WNT5A FANCC FBXL4 PARN ARL6IP6 WNT7A ERMARD CLMP GABRD NR0B1 DMRT3 VAC14 CSPP1 NHP2 PEX3 CDT1 USB1 BUB1B KDM6A SETD2 UBA1 PUF60 COL3A1 HBA2 HP_NEOPLASM_OF_THE_ADRENAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_GLAND CHEK2 MDH2 TP53 SCN4A SDHD DNMT3A IDH1 RET DLST APC SDHB SDHAF2 VHL KCNE3 KCNQ1OT1 NF1 PTEN SDHA PRKAR1A MEN1 CDKN1B MAX KIF1B CDKN1C IDH2 CACNA1S EPAS1 SLC25A11 KCNQ1 CYP11B2 MDM2 CYP11B1 IGF2 SDHC FH CDKN2A CDKN1A CDKN2B TMEM127 CDKN2C HP_ESOPHAGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGITIS SLC2A10 SLC6A5 TGFBR1 MEN1 TCF4 GPHN LMX1B TRAPPC11 TGFBR2 STXBP1 ATAD1 GLRB ATP7A TGFB3 PHGDH TGFB2 RPL11 CDKN1B CDKN1A PGM3 CDKN2B SMAD3 ADAMTS2 PSPH FERMT1 GLRA1 CDKN2C CARMIL2 HP_NEUROENDOCRINE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROENDOCRINE_NEOPLASM MDH2 SDHAF2 SDHD DNMT3A CCND1 RET SDHB VHL DLST TSC2 APC NF1 TSC1 MAFA SDHA PRKAR1A DAXX MEN1 ATRX CDKN1B MAX KIF1B TMEM127 EPAS1 SDHC SLC25A11 GDNF FH LMNA GCGR CDKN1A CDKN2B CDKN2C HP_ERECTILE_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERECTILE_DYSFUNCTION CACNA1G COQ2 BAP1 GALC TTR LMNB1 BMP2 PROKR2 NSMF TERT CHD7 FMR1 SMO FGFR1 GUCY1A1 AIP GNRHR SLC40A1 DCC FGF17 WDR11 SOX10 KISS1 TAC3 ANOS1 SACS TACR3 HJV HESX1 AR SPRY4 HAMP FGF8 CDH23 SEMA3A TFR2 FLRT3 PDGFB HFE PIK3CA HBB KISS1R GNRH1 NDP CCDC141 SMARCE1 DMPK HS6ST1 PROK2 TRAF7 SMARCB1 HEXB IL17RD ATXN8OS SUFU DUSP6 GPR101 AKT1 ABCD1 MEN1 NF2 FEZF1 HP_NEOPLASM_OF_THE_ADRENAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX CHEK2 TP53 SCN4A IDH1 MEN1 APC KCNQ1 KCNE3 CYP11B2 MDM2 KCNQ1OT1 CYP11B1 IGF2 PTEN CDKN2A PRKAR1A CDKN1B CDKN1A CDKN2B CDKN2C CDKN1C IDH2 CACNA1S HP_ABNORMALITY_OF_NAIL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NAIL_COLOR PEX6 GJB6 CAST KRT17 RNU4ATAC KRT6B TRPS1 GJB2 KIF11 KRT6A PEX1 GJA1 FOXC2 KRT16 PLCD1 DSP KANK2 ABCA12 STK11 HP_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROIDITIS ADA RMRP LIG4 IL2RG TG IL7R PIK3CA AKT1 TTC7A TBX2 STAT1 FOXP3 FAS FASLG PTEN CASP10 C1S DCLRE1C POLG PRKCD TCF4 SEC23B CLCNKB NLRP1 CTLA4 ITCH RASGRP1 PLCG2 SLC12A3 CHD7 GPR35 MST1 RAG1 ZFAT RAG2 FOXD3 HP_GRAVES_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAVES_DISEASE SLC12A3 KCNJ18 CACNA1S CLCNKB GABRA3 HP_NEOPLASM_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TONGUE BAP1 KIF7 TMEM231 PLCB4 PDGFB TMEM107 OFD1 INTU KIAA0753 PIK3CA TERT DYNC2H1 SMO FAM149B1 KAT6B NEK1 WDPCP CPLANE1 TCTN3 SMARCE1 C2CD3 FAS FASLG TRAF7 TMEM216 SMARCB1 SUFU CASP10 GNAI3 PRKCD EDN1 AKT1 RASGRP1 NF2 PDE6D HP_NEOPLASM_OF_THE_ORAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ORAL_CAVITY BAP1 MLH1 TMEM231 PLCB4 TMEM107 TERT SMO FAM149B1 APC KAT6B NEK1 WDPCP TCTN3 WRN FASLG C2CD3 TMEM216 MSH6 CASP10 GNAI3 FAS PTCH2 RASGRP1 PTCH1 KIF7 MYC HSPG2 PDGFB OFD1 INTU KIAA0753 PIK3CA DYNC2H1 CPLANE1 PLAG1 FGF3 SMARCE1 MSH2 TRAF7 OCRL SMARCB1 SUFU PRKCD EDN1 LMNA AKT1 NF2 PDE6D HP_VAGINAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_NEOPLASM STAT6 NAB2 BUB1 CEP57 BUB1B BUB3 TRIP13 FH HP_TYPE_I_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_DIABETES_MELLITUS MT-ND6 FOXP3 SLC16A2 CAT EIF2AK3 STAT1 FLT1 MT-CO3 EDA2R MT-TF CORIN CLCNKB MMP2 GPR35 MT-TE MST1 AIRE MT-CO2 STUB1 MMP14 STOX1 NEUROG3 DNAJC21 MT-TS2 MT-ND1 MT-ND4 TTC7A DNAJC3 TKT EDA MT-CO1 INS PSTPIP1 HNF1A MT-TW KCTD1 SRP54 TCF4 MT-TQ SBDS CNOT1 MT-ND5 MT-TL1 ITCH SLC12A3 MT-TH EFL1 HP_OPTIC_NEURITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NEURITIS IL23R MEFV IL12A HLA-B POLG C4A IL12A-AS1 ERAP1 UBAC2 TLR4 NOD2 TK2 CCR1 IL10 FAS KLRC4 NLRP3 STAT4 HP_CELLULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULITIS STAT3 TCIRG1 PLCG2 SHANK3 GATA2 SLC35C1 KIF11 NCF2 ELANE BLNK FLT4 SRP54 CD79A BTK AEBP1 VEGFC GJC2 PIK3CD LMNA COL1A1 TNFRSF1A LRRC8A AGGF1 CYBA CXCR4 SLC35A1 NCF1 PIEZO1 IGHM FOXC2 CD79B TCF3 IGLL1 CYBB PIK3R1 GFI1 HP_ABNORMALITY_OF_THE_CEREBRAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_VASCULATURE PDGFRB SMARCAL1 LIMK1 VHL F7 JAK2 MT-CO1 SH2B3 NF1 NOTCH3 MEFV ELN ACTA2 IL12A-AS1 CTLA4 MLX PRKAR1A PCCB GATA6 PNP THPO GNAQ ADA2 MT-TC F10 MCCC2 GLA ITGB3 CCR1 BRAF BGN MT-TK MT-TL1 MT-ND4 CYP11B2 RNF213 TNNT2 KLRC4 ATP7A EPHB4 KCNQ1 ACVRL1 AGXT COL3A1 PAFAH1B1 PRNP MT-TQ PROS1 AKT1 TP53 XYLT2 MYH11 CFI MYBPC3 CST3 MYD88 LMAN1 PCCA WRN PIK3CA MT-CO3 MTHFR TREX1 SDHA SLC19A2 ABCG8 GP1BB C4A COL4A2 RET WFS1 TPP2 COL4A1 SLC25A11 SCNN1A CCM2 MPL RNASEH2B HLA-DPB1 SUFU TNNI3 F13A1 EDN1 PMM2 GTF2IRD1 NOS3 MT-TH NAGS HTRA1 NF2 FAS DPM3 SDHD IL12A RFC2 MCCC1 LDLR SMO WIPF1 DLST GANAB SMAD3 TET2 MT-TW GCDH FGB BAP1 LMNA CLIP2 XYLT1 WAS GP1BA F2 IL23R SCN5A GATA4 ERAP1 IVD HBB ENPP1 SMAD4 CFH MT-TS2 PKD2 ADAR TGFBR2 IFIH1 IL6 FBN1 TGFBR1 MYPN PKD1 MT-ND5 PROC MSX2 SDHB PRTN3 ALX4 MDH2 MT-ND6 DNMT3A GAA HLA-B MT-CYB PIK3C2A RNASEH2C ALPL CPT2 NR2F2 MYLK ABCC6 MT-CO2 ACAD9 GBA NGLY1 MAX CYP11B1 KIF1B HSD11B2 DYRK1B FLNC SON MT-ND1 CRELD1 CCDC8 FGA SDHAF2 PDGFB KRAS CPS1 TGFBR3 TGFB3 MT-TF CTNNB1 OTC PDCD10 TMEM127 SAMD9 SCNN1B GYS1 NPPA APOB GDNF SDHC FH SAMHD1 TGFB2 ALOX5AP DOCK8 RFT1 MMUT F5 USP18 ITGA2 MECP2 FARSB NRXN1 ITGA2B MT-TV SLC2A10 PRKG1 FCGR2C MLXIPL GNAI3 UBAC2 APP ZAP70 MYH7 IKBKG EPAS1 PTPN22 OBSL1 KRIT1 BAZ1B PCSK9 TRAF7 F8 ASS1 HLA-DPA1 PLOD3 TLR4 ACTG1 THSD1 FGG PIGA TANGO2 JAG1 PLCB4 BICC1 TERT PCNT ENG TTR GTF2I STAT1 GDF2 MFAP5 PTEN LOX IL10 FLNA IL12B SPARC LDLRAP1 AIRE STAT4 RNF168 CBS CYP26C1 SNAP29 SMARCB1 ABCG5 FN1 GATA2 CALR GGCX CUL7 CNTNAP2 GUCY1A1 SLC20A2 TBL2 HOXA1 PRKCH PRKAG2 NR3C1 SERPINF2 HELLPAR COLGALT1 RNASEH2A KIF20A ANGPTL6 NDE1 TNXB SMARCE1 CD46 KCNJ5 CD109 MAT2A CACNA1D ZMPSTE24 STIM1 FOXE3 SCNN1G ANTXR1 MCFD2 ACTB F13B HP_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSKINESIA DEAF1 DNM1 NALCN DNAJC13 ADCY5 LMAN2L SLC46A1 SCN3A PRRT2 STXBP1 NDUFB8 GBA SLC13A5 CHMP2B CRADD PMS2 ACTL6B EPCAM CNKSR2 GABRB3 LINS1 SLC1A2 PDE10A SURF1 ATP6V1A WIPI2 SYNJ1 UCHL1 SLC18A2 SCN8A B4GALNT1 PNPT1 SNCA PANK2 WWOX PDGFB TMEM43 MLH3 TRAK1 GNAO1 MSH2 SLC45A1 KCNQ3 IREB2 VPS13A MT-ND1 SCN2A NTRK2 PODXL GIGYF2 GRIN1 SLC2A1 GABRA2 SCO2 NDUFS2 SLC25A22 ZC3H14 CLIP1 CASK PIGQ COQ2 LRRK2 DCPS TSEN2 GNAS CUX2 CACNA1B TGFBR2 MT-ATP6 KCNMA1 FTL UNC80 PIGC DDX3X FBXO31 VPS13C MED25 SARS1 PRKRA SLC39A14 MBOAT7 TRAPPC9 SEMA4A PARK7 CC2D1A HTRA2 KCNQ2 CYFIP2 NDUFS4 MICU1 MED23 VPS35 DPYS TRIM8 JAM2 C12orf4 AP3B2 EEF1A2 KCNB1 ARX ACAT1 EZR MT-ND5 PIK3CA FAN1 NUS1 CACNA1A MRE11 NSUN2 TNIK PINK1 DMXL2 INPP5K SIL1 GABRG2 GRIN2D SYT1 GRIN2B GRIK2 BMPR1A GABRB2 GCDH CLTC MECR FMN2 ATP13A2 NDUFS8 PNKD NECAP1 KCNA1 SZT2 XK PIGP AARS1 FRRS1L UBA5 TSEN54 PRSS12 ARV1 KDM5B SLC6A3 FOXG1 YWHAG PGAP1 ATXN10 MSH6 PMS1 MAN1B1 C9orf72 RSRC1 PARS2 ST3GAL3 IQSEC1 RAB39B MLH1 PRKN SLC35A1 KRAS PNKP KCNA2 B3GALNT2 NDST1 ATXN7 PPP3CA MT-ND4 STX16 HNMT DNAJC19 SIK1 METTL23 WASHC4 MT-TL1 MT-ND3 MT-TK CDKL5 MT-TW TUSC3 MT-ND6 RPS20 MT-ND2 AGA AIMP1 FGF14 FGF12 NDUFAF3 NDUFA13 DHDDS EDC3 MT-TV CRBN GABRA5 NEUROD2 TECR EIF4G1 HCN1 SCN1B SYNGAP1 SLC30A9 DNAJC6 HP_TRIGEMINAL_NEURALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIGEMINAL_NEURALGIA SMARCB1 BAP1 SUFU PDGFB PRNP PIK3CA TERT AKT1 SMO SMARCE1 NF2 TRAF7 HP_ANGIOEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOEDEMA SERPING1 XPNPEP2 F12 CPN1 SPINK5 DNASE1L3 HP_ROUGH_BONE_TRABECULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUGH_BONE_TRABECULATION TNFRSF11A PORCN NOTCH2 USB1 VDR TERT TINF2 CTC1 NHP2 RTEL1 SLC29A3 DKC1 NPM1 NOP10 TERC PARN WRAP53 TNFRSF11B AMER1 TCIRG1 TRPV4 HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY TNFRSF11A PORCN NOTCH2 VDR TERT CYP2R1 NHP2 RTEL1 SLC29A3 ENPP1 NOP10 PARN TNFRSF11B CLCN5 USB1 ZMPSTE24 TINF2 CTC1 LMNA DKC1 SLC34A3 DMP1 NPM1 CYP27B1 TERC WRAP53 AMER1 PTH1R TCIRG1 TRPV4 HP_PREMATURE_SKIN_WRINKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_SKIN_WRINKLING EFEMP2 ZNF469 CDH11 EDARADD ATP6V1A RIT1 FBLN5 MED12 RAF1 SLC25A24 KRAS TWIST2 ALDH18A1 BRAF RTEL1 MAP2K2 POLR3A PTPN11 PIK3R1 EDAR CSTA PTEN NAA10 PYCR1 C1R COG5 FGFR3 ABCC6 ATP6V1E1 EDA ATP6V0A2 MAP2K1 PLOD1 TGM5 TERT DKC1 ENPP1 PARN FGFR2 KCNJ6 SMARCA2 ELN COL3A1 LMNA TALDO1 ADAMTS2 TBL1XR1 ACD TINF2 HP_LACK_OF_SKIN_ELASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_SKIN_ELASTICITY CUL4B ALOX12B SMAD3 PDE11A SULT2B1 FBN1 COL1A1 NIPAL4 WRN POLD1 SMARCAD1 HRAS TGFB2 AIP PDE8B TGFBR2 LMNA ABCA12 PRKAR1A PRKACA CYP4F22 ABCC6 COL5A2 PHGDH ENPP1 NTRK1 PAH USP8 PSAT1 COL5A1 ALOXE3 TGM1 ZMPSTE24 TP53 TGFBR1 ADAMTSL2 GNAS LIPN DLG4 SH3BP2 SDR9C7 HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY TNFRSF11B AP2S1 FXYD2 SLC12A3 CDC73 KCNJ1 PDGFRB ANKH NOTCH3 ENPP1 HLA-B HFE WRN ATP7A GNA11 GCM2 ATP7B ALPL MEN1 CLCNKB SLC12A1 LMNA PHEX DMP1 HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA RD3 FANCE SMARCAL1 PRDM5 CHRDL1 LIMK1 MPLKIP KCNJ13 FANCL ARID1B REEP6 PRPF6 RFWD3 KRAS KIAA1549 TCF4 ARL6 KIF11 IFT140 MAG ELN GUCA1B CLRN1 PDE6G CCDC28B BRIP1 CRB1 EMC1 GTF2H5 CHD4 ZEB1 PCYT1A KMT2B CHMP1A TOPORS IDH3B GRHL2 NEUROD2 PLOD1 RDH12 ZNF408 SCAPER ARL2BP RHOA AIPL1 INTS1 AEBP1 PDE6B UBE3B FANCF ADNP SLC39A8 C1QBP MIR184 P4HTM VSX1 PRPF3 TRIM37 GTF2E2 RNF113A KERA SPATA7 RPE65 CHST14 SLC7A14 TBCE FANCG GATAD2B NIPBL GLRB ZNF469 YY1 SLX4 CLDN16 SLC2A10 MAN2B1 NFIX AGBL5 COL3A1 FANCI RPGR MBD5 FANCD2 RPGRIP1 BEST1 MBTPS2 CRX COL9A2 FANCA LMX1B H1-4 PRMT7 DSE RBP3 COL4A1 CNGB1 TEAD1 VARS1 ARHGEF2 ZNF513 FOXE3 BAZ1B CHD3 CACNA1F IQCB1 WAC FIBP XRCC2 AHI1 MARK3 SAG KCNV2 UBE2T OFD1 GTF2IRD1 HARS1 GPR143 COL8A2 FANCB CDHR1 CEP290 RAD51 TYR LOXL3 ARSG CNGA1 FANCM DHDDS RFC2 ERCC4 COL9A3 EYS LCA5 GDF6 KIZ RGR GTF2I PPP2R5D IMPDH1 PRPF8 DHX38 IDH3A HRAS PIGT NEK2 ANKRD11 MAK CLIP2 RHO BBS2 POGZ ANTXR1 TBC1D7 RP9 COL9A1 KLHL7 TULP1 ERCC3 ABCA4 RLBP1 C8orf37 DMPK CEP78 RAD51C PACS2 BRCA2 STXBP1 SETD5 COL5A1 GNPTAB CERKL NRL SLC25A24 RNU4ATAC COL1A2 ARCN1 ERCC2 DNAJC21 PROM1 EBF3 BRCA1 USH2A CC2D2A OVOL2 RERE RP2 DPYD IFT172 TARS1 PRCD BBS1 MAD2L2 NMNAT1 FANCC FAM161A COL1A1 PRPH2 ROM1 GUCY2D TBL2 PRPF4 CA4 TUB TTC8 SEMA4A KIDINS220 ARL3 LRAT NR2E3 SNRNP200 IFT88 PIEZO2 PCARE FSCN2 COL5A2 AP3D1 MERTK AP1B1 USP9X HGSNAT CLDN19 IMPG2 POMGNT1 COL11A1 BLOC1S3 PRPF31 KDM5B ARHGEF18 PITX2 NR2F1 RP1 AHR PALB2 MT-TS2 PDE6A CHST6 USP45 HP_INCREASED_CORNEAL_CURVATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CORNEAL_CURVATURE SPATA7 RD3 PRDM5 CNGA1 DHDDS RPE65 KCNJ13 EYS LCA5 GDF6 KIZ CRX REEP6 RGR PRPF6 KIAA1549 IMPDH1 PRPF8 DHX38 IDH3A HRAS IFT140 GUCA1B NEK2 PDE6G MAK RHO CRB1 BBS2 ANTXR1 ZEB1 PCYT1A RP9 TOPORS KLHL7 TULP1 IDH3B GRHL2 PLOD1 RDH12 ZNF408 SCAPER ABCA4 RLBP1 C8orf37 RPGRIP1 ARL2BP AIPL1 COL5A1 PDE6B CERKL NRL MIR184 PROM1 VSX1 PRPF3 USH2A OVOL2 RP2 ZNF469 IFT172 SLC7A14 PRCD NMNAT1 FAM161A SLC2A10 COL1A1 AGBL5 PRPH2 ROM1 GUCY2D COL3A1 PRPF4 CA4 TUB RPGR TTC8 SEMA4A ARL3 BEST1 LRAT NR2E3 SNRNP200 IFT88 LMX1B PIEZO2 PCARE FSCN2 COL5A2 MERTK RBP3 CNGB1 AP1B1 ZNF513 FOXE3 IQCB1 AHI1 HGSNAT IMPG2 POMGNT1 SAG PRPF31 OFD1 ARHGEF18 NR2F1 RP1 ARL6 CLRN1 AHR COL8A2 PDE6A CDHR1 CEP290 USP45 HP_IRIDODONESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDODONESIS FBN1 CPAMD8 CHRDL1 ADAMTS17 LTBP2 HP_TIBIAL_TORSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_TORSION SCN9A GABRA1 PCDH19 RBM8A STXBP1 SCN1B GABRD SCN1A HCN1 SCN2A FIBP GABRG2 SLC26A2 ADGRV1 STX1B HP_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING KRT14 COL7A1 PRDM5 B4GALT7 APC CHST14 REEP6 NGLY1 PRPF6 KIAA1549 LAMA3 GUCA1B PDE6G COL1A2 TFAP2A C1R KRT5 TOPORS IDH3B RDH12 ZNF408 SCAPER NPPA UROS ARL2BP RHOA FKBP14 COL17A1 LAMC2 AEBP1 NCAPG2 ATP7A ERCC8 PDE6B PRPF3 SPATA7 PLEC SLC7A14 ZNF469 CTSC IKBKG AGBL5 CLDN1 COL3A1 RPGR BEST1 CRX SLC39A13 DSE CFI CARMIL2 RBP3 CNGB1 LAMB3 ZNF513 DST AHI1 IFT140 MMP1 COL5A2 SAG OCRL TGFBR1 OFD1 COL1A1 HLA-A MBTPS2 ARL6 ADAMTS2 CDHR1 ITGB4 CNGA1 DHDDS PRDM12 ERCC6 EYS KIZ RGR TGFBI PRPF8 DHX38 EP300 IDH3A NEK2 ITGA6 MAK RHO BBS2 C1S RP9 KLHL7 GJB2 CYP26C1 ABCA4 RLBP1 C8orf37 PPOX COL5A1 BTNL2 CERKL NRL NCSTN TNFRSF11B EBP CREBBP ECM1 PROM1 USH2A SH3BP2 RP2 IMPDH1 IFT172 PLOD1 PRCD SMAD3 FAM161A RPE65 PRPH2 ROM1 PRPF4 CA4 TUB NTRK1 TTC8 SEMA4A TGFBR2 ARL3 LRAT NR2E3 TULP1 SNRNP200 IFT88 FERMT1 PCARE FSCN2 MERTK LEMD3 HLA-DRB1 HGSNAT IMPG2 POMGNT1 PRPF31 ARHGEF18 RP1 CLRN1 AHR POLA1 GATA1 PDE6A CRB1 HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY GPSM2 XPNPEP3 SHANK3 TMEM231 BICC1 RTTN NOTCH3 SON NEK1 ADAT3 PKD2 NRAS PUS3 DNAJC19 GANAB KRAS PPP2R5D FOXC2 OFD1 FGFR2 SACS PKD1 PUF60 ARID2 FGFR1 HP_CEREBRAL_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VISUAL_IMPAIRMENT GNB1 PIGY TANGO2 NSUN2 CERT1 SHANK3 VPS11 TNIK ASNS CCDC47 RAB3GAP1 TWNK ATN1 LMAN2L CLCN4 NARS2 MT-CO2 MT-CO1 MT-TF CRADD RNF13 GRIK2 MT-TW MAPK8IP3 GABRB2 PIGT FMN2 NADK2 PARS2 LINS1 POLG RAB3GAP2 CACNA1E RRM2B COG5 EMC1 SPATA5 VAMP2 MT-TC CHMP1A ST3GAL5 NEUROD2 FRRS1L CDKL5 PRSS12 MT-TS2 MT-TK MT-TL1 KDM5B PPP3CA PDSS2 POLG2 TBCK SCN1A SLC45A1 CACNA1D PHGDH PGAP1 TELO2 ADNP COQ2 KIF1A MTHFS GRIN1 DIAPH1 MT-CO3 MAN1B1 GABRB1 RSRC1 NR2F1 NAGA P4HTM ST3GAL3 IQSEC1 SLC25A1 TIMM8A RERE ZC3H14 CLIP1 PIGP SLC35A2 KAT6A DPM1 TRAPPC12 B3GALNT2 NDST1 MT-ND5 DOCK7 SELENOI DCPS POGZ MT-CYB SON MT-TV PPP2R1A HNMT KIF5A METTL23 WASHC4 CACNA1B PSMD12 PIGC TRAF7 FBXO31 PIGA MED25 TUBGCP2 HECW2 TUSC3 FCSK SARS1 FOXRED1 ARHGDIA AIMP1 MBOAT7 PIGS TRAPPC9 COPB2 RAB18 CC2D1A AHDC1 AMPD2 EDC3 CHD3 TBC1D20 CRBN MT-TQ MED23 TECR PYCR2 TRAPPC2L C12orf4 SCN3A MT-ND6 SLC25A4 EZR GRIN2D SPTBN4 FGF12 MT-ND1 HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY MAPT TYROBP PAX2 TARDBP C9orf72 GLI3 DNAJC13 THOC2 EIF2B3 SNCA CHCHD10 ETFB TSC2 EIF2B4 ERBB2 APC RANBP2 CSF1R NF2 NDUFB8 GBA AIFM1 ATXN3 NARS2 ADH1C POT1 STRADA CHMP2B MOCS2 SURF1 VCP NGLY1 SNCAIP LRRK2 PMS2 GRN IFNG TP53 MLH1 BMPR1A ATXN2 EPCAM TBK1 RELA POLG SDHA PMPCA BRAT1 TBP ZNF335 SLC30A10 ATXN8OS AP4M1 PSEN1 IDH2 TSC1 KCNT1 FUS PRNP TSEN54 LRP5 ERCC6 MLH3 COX15 MSH2 MSH3 NR4A2 PLA2G6 SERPINI1 NUP62 CDKN2A SQSTM1 MSH6 NAXD GIGYF2 PMS1 SCO2 NDUFS2 SETBP1 L2HGDH AVP IDH1 KRAS TBCD TLR3 ETFDH LMNB1 YY1 CHEK2 ADAR NF1 MAN2B1 FBXO7 C11orf95 TGFBR2 ATP6V1A MT-ATP6 FARS2 EIF2B1 TMEM106B PIGA BCS1L VRK1 RPS20 BRCA2 PLP1 ARX LAMA2 COX10 LRPPRC NDUFAF3 TREM2 SEMA4A EIF2B5 NBN GDAP2 TFG VPS35 MTOR ETFA EIF2B2 HTT EIF4G1 MOCS1 SMO HSD17B4 UBQLN2 PIK3CA FAN1 GLUD2 PRKN HP_ABNORMAL_ASTROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY C9orf72 IDH1 TSC2 ERBB2 ADAR APC NF2 NF1 AIFM1 POT1 STRADA CHMP2B MAPT VCP TSC1 GRN IFNG TP53 MLH1 MT-ATP6 TMEM106B POLG MSH6 PMS2 SLC30A10 BRCA2 PSEN1 IDH2 LAMA2 TREM2 MTOR MSH3 NUP62 CDKN2A SQSTM1 PRNP MSH2 HP_ABNORMALITY_OF_THE_THORACIC_SPINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THORACIC_SPINE VPS33A CHRND ERLIN1 SCN4A CDH11 RAPSN SMARCAL1 TMEM231 TARS1 MPLKIP SGCA NEK9 ZMPSTE24 SC5D TRAPPC2 SRD5A3 MGAT2 MAN2B1 FGFR3 TONSL SPRTN MUSK HINT1 FLI1 FLNB CHRNE DES MIR140 PIK3R2 PIK3C2A EXTL3 LHX3 MOGS AIFM1 XYLT2 TBX5 SLC26A2 AMER1 AEBP1 PEX5 GTF2H5 CHRNB1 TUBB3 IARS2 NPR2 DOK7 TPM2 ERCC3 COL13A1 MYPN COL2A1 SOX5 PCGF2 C12orf65 GNPTAB GDF3 PUF60 VPS13B TPM3 PYCR2 ANKRD11 ALDH3A2 AK9 RBBP8 LMNA CHRNA1 ERCC2 PHF8 LRP4 AGRN POP1 GTF2E2 ATRX GUSB RNF113A DYM WDR81 HP_ABNORMALITY_OF_THE_LUMBAR_SPINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LUMBAR_SPINE FLNB VPS33A CDH11 NPR2 EXTL3 LHX3 SC5D COL2A1 ERLIN2 MGAT2 MAN2B1 FGFR3 SLC26A2 POP1 AMER1 RPS6KA3 GUSB GNPTAB BMPER HP_SELF_INJURIOUS_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_INJURIOUS_BEHAVIOR GAMT NALCN SLITRK1 DHCR7 KMT2E MBD5 DNM1 SLC6A8 DMXL2 SCN11A RTTN TSC2 KCNAB2 STXBP1 SLC1A4 SYT1 INPP5E TCF4 EP300 IQSEC2 RPS6KA3 NAT8L ALDH5A1 KIF15 DEAF1 THOC2 UNC80 GRIN1 POGZ ATRX ADSL ZBTB20 RAI1 PIGP PRDM16 VAMP2 GRIA3 WASF1 SLC6A17 FMR1 DCHS1 ELP2 SOX5 VPS13A TMEM231 NFIX RPL10 GNAO1 RLIM HERC2 ATP1A1 NAA10 CREBBP SCN2A TMCO1 SHANK3 CLTCL1 SLC25A22 RERE FLII CASK GLS PIGQ DPYD GATAD2B PNKP CTNNB1 TKT BCOR NIPBL NRXN1 MGAT2 CNTNAP2 FAT4 TSC1 TRIO SIK1 NTNG2 KCNA1 NTRK1 HTR2A CDKL5 GJB2 GABRD HECW2 SLC6A4 USP7 SKI CLCN4 HPRT1 HDC KMT2C ABCA12 NEUROD2 NDP PAH MAOA TRIM8 OCRL KPTN ARX NDE1 SCN1B SPATA5 LARP7 GABBR2 SMARCC2 AP1S2 HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE COL5A2 COL5A1 TP53RK WDR4 TPRKB WDR73 LAGE3 NUP107 DZIP1L OSGEP COL1A1 NUP133 PKHD1 CD96 HP_MEDIASTINAL_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIASTINAL_LYMPHADENOPATHY CYBB CYBC1 BCL6 CYBA PTPN22 NCF1 EWSR1 BCL2 BIRC3 FOXP1 APOE MALT1 WT1 HLA-DRB1 BCL10 NCF2 NCF4 HP_GASTROINTESTINAL_STROMA_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_STROMA_TUMOR TNFSF12 CR2 SDHB KIT ICOS SDHA SDHC NFKB2 CD19 NFKB1 PDGFRA SDHD PRKCD TNFRSF13B MS4A1 CD81 TNFRSF13C HP_HYPERCOAGULABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCOAGULABILITY SLC4A1 SPTA1 F9 DLD AGGF1 MYD88 SPTB ANK1 PROS1 PLAT PROC EPB42 GATA2 THBD F5 HBB PIGA HRG HP_LICHENIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LICHENIFICATION HLA-DRA FLT4 CARD14 OSMR CTLA4 CSTA NTRK1 LBR VEGFC TNFRSF1B CD28 GJC2 HP_GERM_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERM_CELL_NEOPLASIA RNF43 CTNNB1 WT1 MNX1 STS NR5A1 KEAP1 FGFR3 KIT SRY KCNQ1OT1 SETBP1 MAP3K1 PRKN ZFPM2 AKT1 APC2 IGF2 CDH1 WWOX NSD1 NR0B1 DMRT3 CDKN1C AR VAMP7 BCL10 TP53 DHH DHX37 DICER1 KCNQ1 PIK3CA STK11 MSH3 GATA4 PAX6 FGFR2 SOX9 OPCML SETD2 HP_LARGE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FACE SMS CAMTA1 NSDHL SNAP29 TMEM231 SLC6A8 VAMP1 TMEM237 MGP NEB STRADA TCTN3 PTEN TGFB3 POLA1 UBE3B HERC1 SETBP1 SETD2 CLCF1 TMEM138 B3GLCT RAI1 CHRNG MSTO1 MYPN NPHP1 CSPP1 NFIX TPM3 GFPT1 PTCH1 EYA1 SLC9A6 KLHL41 KANSL1 RREB1 SLC5A7 SPEG B9D1 UBE2A SELENON AKT1 CCDC174 SNX14 CC2D2A GPR101 BCORL1 PHF8 CEP57 XRCC4 NKAP INPP5E SLC12A6 COL13A1 ASXL1 TCTN2 TMEM67 KIAA0556 TAF1 SLC2A10 KRAS AIP TAB2 RUSC2 BRAF FGF3 AGA BCOR RPGRIP1L ARVCF PAK1 MMACHC TPM2 ARL3 MAPK1 BIN1 ACTA1 FBXO11 IQSEC2 BRWD3 TCTN1 MAP2K1 UPF3B DOCK3 HUWE1 SGCG CEP120 RYR1 CPLANE1 AP1S2 HACD1 SIN3A ALKBH8 MOCS1 MKS1 ITGA7 OCRL AHI1 ARL13B TMEM216 TLK2 ATAD3A GP1BB HNRNPK NONO CEP104 MYH7 UFD1 RIC1 KIAA0586 ZNF423 MED12 MYH3 MYO9A CRLF1 TET3 AGRN COL3A1 FAM149B1 ADAT3 CLCN4 CEP41 SNAP25 MOCS2 MID2 ZNF711 PPP2R5D MEIS2 PQBP1 C12orf57 HRAS RAPSN APC2 ARMC9 MAP2K2 KBTBD13 APC ANKRD11 EXTL3 DEAF1 PDE4D OPHN1 CHRNB1 CRKL COMT FMR1 NHS CHRNE JMJD1C TCF20 KIF7 SLC9A7 KIAA0753 PCGF2 HIRA BCR SIX1 CEP290 OTUD6B IDUA NFIA SLC25A1 TBX1 CXorf56 EBF3 ATP7A POC1A CCDC115 FLII MYL2 TRAIP RAB39B SMAD3 NBAS PEX13 CHAMP1 CHAT ASXL2 WNT7A FLNA RMRP RECQL4 FLNB FBN1 PRDX1 SLC18A3 MAN1B1 TTN PTCH2 PBX1 SATB2 BRAT1 RPL10 PIBF1 OFD1 SEC24C EIF2S3 NSUN2 SYT2 NFIB MAP3K20 HYLS1 PMM2 TBL1XR1 SUFU PDE6D MTM1 HP_PANCREATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_FIBROSIS TMEM107 TCTN2 PRPS1 RPGRIP1 NPHP3 MKS1 CEP290 NEK1 CC2D2A TMEM67 TMEM231 CEP55 B9D2 TMEM216 PTRH2 WDR60 WDPCP RPGRIP1L B9D1 CSPP1 HP_NEOPLASM_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND CDC73 IDH1 TSC2 MEN1 NF1 CASR GCM2 RET TSC1 PRKAR1A FLCN CDKN1B CDKN1A CLCNKB CDKN2B SLC12A3 CDKN2C IDH2 HP_HYPERTENSIVE_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSIVE_CRISIS HMBS JMJD1C HLA-B IRF5 MLX GP1BB ARVCF SEC24C TBX1 IL12B CCN2 UFD1 CCR6 COMT CAV1 HIRA MYMK RREB1 HLA-DRB1 HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY FANCE PIGY HYAL1 MSX1 SMARCD1 TMEM231 FANCM PLCB4 ERCC4 HAAO B4GALT7 PGM1 CDH11 KAT6B SELENOI TCOF1 FANCL UBB TP63 DDX59 RECQL4 EIF4A3 RFWD3 ALG3 AMMECR1 DHCR24 TGFB3 LARGE1 POLA1 TGFB2 WDR35 KCNN3 SIX3 NXN FKRP BRIP1 FGFR2 MSX2 RNU4ATAC AMER1 SEC23A ATP6V1B2 GLI3 COL4A1 KIF14 GMNN CRPPA SF3B4 KCNH1 SMAD4 RPL5 POMGNT2 ORC6 PIGO PIEZO2 BGN TXNL4A RLIM PIGL SIX1 RAD51C AEBP1 BRCA2 TGFBR2 SMS KCNK9 IFT140 DGCR8 RXYLT1 SPEG SEMA3E TBX1 FANCF NECTIN1 GRHL3 ORC4 CHD7 SHH COL2A1 HYLS1 BIN1 BRCA1 POMK SMCHD1 MAP3K7 SRCAP TTC37 ESS2 FANCG SMAD3 MAD2L2 SLX4 NEK1 FANCC FKBP14 DAG1 IRF6 ROR2 FANCI PIGW TCTN3 BCOR GNAI3 SETD5 POLR3A DGCR2 POMGNT1 EYA1 FANCD2 TBCE BMP4 ORC1 CDC45 TTN CDC6 POMT2 B4GAT1 SLC39A13 FANCA CDH1 DGCR6 KIF7 PTDSS1 FKTN PHGDH USP9X KMT2C B3GALNT2 XRCC2 XYLT1 SPECC1L TGFBR1 TBX22 RYR1 SLC25A19 CDT1 COL11A1 EDN1 SERPING1 RAI1 PSAT1 DLX4 STAC3 UBE2T FTO SNRPB PGAP3 POMT1 SON PALB2 PGAP2 DLG1 FANCB TUBB6 THOC6 PIGV RAD51 ARHGAP29 HP_ABNORMAL_EATING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EATING_BEHAVIOR ITPR3 MYO9A NKX2-1 PACS1 DPYD PTPN22 SLC12A3 PREPL MBD5 LEPR GNAS VAMP1 COL13A1 SNORD116-1 MAPT RERE AGRN SLC3A1 KCNAB2 PSEN1 SLC25A13 MC4R SNAP25 NTRK2 CHAT SIM1 SLC5A2 MEN1 SLC18A3 CTNNB1 IL6 CLCNKB SNRPN PCDH19 PWAR1 HNF1A GABRD SETD2 PWRN1 AGPAT2 NDN POMC PRDM16 SKI GPR101 CACNA1A SLC7A7 ELP2 BSCL2 BRAF DHPS MAGEL2 KCNJ10 SH2B1 LEP MAN1B1 SLC5A7 ADNP HERC2 SYT2 NPAP1 MN1 MKRN3 ACAT1 GRN SLC25A1 LARP7 PCSK1 SNORD115-1 HP_VASCULAR_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_NEOPLASM PIK3CA CTBP1 DHCR7 GPC6 VHL TSC2 KLLN ELANE FGFR1 DLST TSC1 SDHB SDHAF2 SRP54 SRD5A3 ARID1B PTEN RECQL4 PTH1R GDF2 IDH1 NF1 SETBP1 EP300 DNM2 NSD2 MAP2K2 DVL1 FOXH1 KRAS EXTL3 TFAP2A ESCO2 BRAF TMEM127 CDON SHH SLC26A2 SEC23A IDH2 GNAQ GLI3 FGFRL1 FZD2 BMPR1A GNA14 PDCD10 CYP26C1 HRAS SMAD4 MTM1 CALR MYF6 MPL ACVRL1 SDHD GDNF PUF60 AKT1 DIS3L2 NELFA DVL3 SDHC FH ANTXR1 CPLX1 CREBBP CTSA GLI2 SEC23B RASA1 TBC1D24 RYR1 EIF2AK4 ZIC2 OFD1 WASHC5 DPM1 MDH2 PTCH1 TCIRG1 MTOR HOXD13 CCDC22 CCND1 JAK2 ASXL1 MTMR14 WNT5A MGAT2 SIX3 GAS1 ARL6IP6 NRAS LETM1 NODAL KDR SDHA FLT4 AGGF1 MAX DISP1 KIF1B KDM6B RET TGIF1 USF3 BIN1 LEMD3 MAP2K1 SLC25A11 CCM2 TEK NDP SUFU GNPTAB TBX2 ENG FGF8 FGFR2 STAC3 KRIT1 DLL1 NOTCH1 TDGF1 GFI1 TET2 CD96 HP_NEOPLASM_OF_THE_RECTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RECTUM POLD1 AKT1 RNF43 PIK3CA SEMA4A SDHB KIT KRAS SDHA SDHC MUTYH POLE KLLN BMPR1A KEAP1 GREM1 DICER1 MLH3 MSH2 STK11 PDGFRA PMS2 MSH3 TGFBR2 SMAD4 EPCAM ENG MSH6 PMS1 SEC23B NTHL1 RPS20 FAN1 USF3 PTEN SDHD MLH1 AXIN2 HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT SHOX NOG GDF5 MAP3K7 GPC6 GSC NIPBL EXTL3 DONSON ASXL1 FZD2 IFITM5 FGFR2 TBX15 CYP26B1 FLNA ARID1B WNT7A SCARF2 KIF22 SKI EP300 COL27A1 BMP1 PTDSS1 RNU4ATAC POR CREBBP NOTCH2 PRKAR1A ATR EXOC6B B3GALT6 CD96 FGFR1 ERCC1 FGF9 CHRNG HP_CHEST_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEST_PAIN SCN4A SDHD RET CRLF1 WIPF1 DLST JAK2 SDHB SDHAF2 VHL TSC1 SMAD3 NF1 MFAP5 CTLA4 MLX PRKAR1A MEF2A LOX IL12B ELN STAT4 THPO WAS SH2B3 CTNNB1 TGFB3 DBH TMEM43 TNNC1 MEFV FBN1 BTNL2 TGFBR2 SDHC FH PTPN22 TGFBR1 MYL2 TGFB2 WWOX NOS1 TP53 MYH11 NOD2 TMEM127 MPL IRAK1 PRTN3 CALR MYBPC3 MDH2 DNMT3A ACTA2 GNAS SMAD4 STX16 PRKG1 HLA-DQA1 SCNN1A APC RNF6 SDHA HLA-B TNFRSF1A MAX SCNN1G KIF1B MYH7 MYLK EPAS1 HBB CFTR SLC25A11 HLA-DRB1 SPP1 MAT2A HLA-DPB1 MT-TK HLA-DPA1 TET2 TSC2 PLN SCNN1B FOXE3 HLA-DQB1 DPM3 DLEC1 HP_ATELECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATELECTASIS EFEMP2 DNAJB13 RSPH1 SPEF2 CCNO RIPK4 CCDC40 SPAG1 DRC1 FOXJ1 MCIDAS ZMYND10 RPGR TSC1 GAS2L2 GAS8 DNAH1 CCDC151 PAX3 CCDC39 ARMC4 DNAL1 NHLRC2 TTC25 DNAAF2 CXCR4 DNAI2 ARVCF TBX1 COMT NEK10 CFAP221 RSPH3 LAMA2 LRRC6 DNAAF1 STAT3 DNAAF5 RSPH9 STK36 JMJD1C DNAH9 FBLN5 HYDIN DNAAF6 SEC24C OFD1 RSPH4A CCDC114 DNAH5 HIRA CCDC103 LRRC56 RREB1 DNAAF4 PLEC NME8 OCRL TTC12 TSC2 GP1BB CCDC65 CFAP298 DNAAF3 UFD1 CFAP300 ASAH1 DNAH11 DNAI1 HP_ESOPHAGEAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_NEOPLASM APC TGFBR2 RHBDF2 SDHB KIT SDHA WWOX MSR1 FH CTHRC1 SDHC RAD21 STK11 ASCC1 PDGFRA STAT1 RNF6 DLEC1 HP_SCHIZOPHRENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZOPHRENIA MSTO1 PRODH ARSG NKX2-1 DRD3 DNAJC13 GJA5 SNCA CAT PSAP FLI1 GBA PDZD7 CHI3L1 DAOA LRRK2 SHANK3 MYO7A CIB2 GJA8 WFS1 UPF3B CLRN1 ATP2A2 COMT ARVCF KRT83 TBX1 HTR2A ESPN MT-TE KRT86 JMJD1C SYN2 RBM12 DSG4 MED12 ARSA DNMT3A SEC24C KRT81 VPS35 CHRNA7 CEP78 HIRA APOL2 RREB1 MTHFR EIF4G1 USH2A CDH23 ZDHHC9 GIGYF2 PCDH15 GP1BB USH1C RTN4R USH1G ADGRV1 HARS1 APOL4 UFD1 MT-TS2 WHRN HP_MANIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANIA MT-CO2 MECP2 MT-ND6 JMJD1C RPS6KA3 TWNK CLCN4 POLG2 TBCK MT-TS2 DNMT3A SEC24C FLI1 MT-ND1 MT-ND4 CHRNA7 SLC25A13 HIRA RREB1 MT-CO3 CDH23 MT-CO1 TBX1 SMPD1 MT-TF MT-TW GP1BB ATP2A2 MT-TQ ARVCF MT-ND5 SLC25A4 MT-TL1 UFD1 COMT FA2H RRM2B MT-TH USP8 POLG HP_ABNORMALITY_OF_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SALIVATION MRE11 ALS2 PTCHD1 ACSL4 CERT1 PFN1 CBL GPT2 CLCN4 IRF5 LBR DAO CAV1 FOXG1 FTSJ1 TET2 DCTN1 POLR3B ATP7B TBK1 POLR3A USP27X GABRG2 PON2 UPF3B EXTL3 KIF15 SRPX2 PON1 TREM2 GRIN2A PDE10A HERC1 PTS AP4M1 NRXN1 RAB39B HCFC1 PPARGC1A AP4S1 FBLN1 MECP2 NEFH HNRNPA1 ARHGEF6 SOD1 PRPS1 FIG4 VAC14 GNS PCGF2 ALG13 PRPH CCR6 AP4B1 SLC9A6 CXorf56 AGTR2 VCP IQSEC2 AP4E1 SETD5 TARDBP FUS VPS13A PAK3 ATP1A3 STXBP1 GLE1 SLC12A5 HLA-B ARX RUNX1 CHCHD10 MATR3 NOD2 BCORL1 ZNF41 PON3 IL1RAPL1 CLDN10 NEK1 HLA-DRB1 GABRA1 ZEB2 ATP6AP2 GSN FGFR3 FRMPD4 TH PCDH19 EDARADD SRSF2 ZNF711 OPTN ZBTB11 B2M ZC4H2 GCH1 MED12 DLG3 UBE3A FGF10 CHMP2B CNTNAP2 ANG C9orf72 SPART SYP GLT8D1 VAPB CFAP410 UNC13A STRADA SCN9A TANGO2 GDI1 NTNG2 DMD IKZF1 SLC9A7 CNKSR2 GFM2 RPS6KA3 MID2 ATRX DEAF1 ANXA11 PMP22 CHRM3 ERBB4 UBQLN2 TAF15 EIF2S3 TSPAN7 ASXL1 SQSTM1 SERPING1 EPHA4 ATXN2 SCN1A TP63 USP9X FGFR2 FOXP2 QDPR DLAT SCN2A CCN2 TUBB2B SCN1B GABBR2 ZNF81 SLC16A2 CCNF HP_GANGRENE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGRENE IL12A HLA-B ALOX12B CAT KIF11 ZBTB16 SULT2B1 NIPAL4 STAT5B PRKAR1A MEFV C4A IL12A-AS1 CTLA4 UBAC2 MLX NUMA1 NABP1 IL10 IL12B RARA ABCA12 CYP4F22 PML STAT4 AGXT PTPN22 IL23R ERAP1 PROS1 STAT3 CCR1 FIP1L1 KLRC4 HLA-DPB1 ALOXE3 TGM1 TBL1XR1 HLA-DPA1 TLR4 NPM1 BCOR PROC LIPN FAS PRTN3 TNFRSF1B CD28 SDR9C7 IRF2BP2 HP_CLUBBING_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_FINGERS DNAJB13 RSPH1 SFTPA2 SPEF2 CCDC40 SPAG1 FOXJ1 MCIDAS ZMYND10 PARN RASGRP1 GAS2L2 DNAH1 CCDC151 CCDC39 ARMC4 SFTPC ABCA3 DNAL1 TTC25 DNAAF2 DNAI2 TERC DRC1 PSMB8 NEK10 SFTPA1 CFAP221 PTH1R PTEN RSPH3 LRRC6 DNAAF1 DNAAF5 CCNO RPGR RSPH9 STK36 BMPR1A DNAH9 FAM13A STN1 DSP INTU RTEL1 HYDIN MUC5B DNAAF6 TERT OFD1 LRBA RSPH4A DNAH5 CCDC114 CCDC103 LRRC56 CD55 DNAAF4 NME8 GAS8 TTC12 CCDC65 ATP11A CFAP298 DNAAF3 STK11 DPP9 CFAP300 ATRX DNAH11 DNAI1 HP_CLUBBING_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_TOES FANCE RHBDF2 FANCG FANCM ERCC4 XRCC2 MAD2L2 SLX4 FANCC FANCL SMARCA2 HPGD RFWD3 RAD51C BRCA2 UBE2T GJB6 FANCF FANCI FANCD2 BRIP1 SLCO2A1 PIGL FANCA PALB2 BRCA1 FANCB UBE2A RAD51 HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM STIM1 CCDC39 CTBP1 GLB1 ATRX TCIRG1 RAG1 TSC2 C15orf41 NEK9 KCNAB2 BACH2 SGSH MVK PTEN PTH1R KCNN4 RNASEH2C DNAH1 AICDA GPC3 RRAS2 MEFV OSTM1 CASP10 CC2D2A PDGFRA RUNX1 ASAH1 GPR35 RAG2 TTC37 ATM KCNH1 CHD7 RNASEH2A LAT CCR1 PIEZO1 TTC7A FAH IL6 CCND1 GAS8 TCF4 BCOR MPIG6B SLC7A7 CALR HRAS GBA ICOS IRF2BP2 ALAS2 TFAP2A SEMA3E RPGRIP1 BSCL2 PKLR BCL2 GINS1 PHYH MRAS PALB2 GP1BA OCLN CASK TREX1 THPO NSMCE3 STX11 POU6F2 DAXX HGSNAT C4A CEP290 LIPA CD40 PSMB8 CLCN7 MST1 NCF4 ARSB LYST TPP2 RAB23 FOXF1 F5 TMEM67 ITCH TERF2IP MPL CDON B2M WT1 DNAAF4 UNC13D AGPAT2 TINF2 RHAG DCLRE1C HSD3B7 ABCA1 UFD1 LETM1 SP110 FAS MEGF8 NPC1 GPIHBP1 COL18A1 BAP1 LPIN2 CD3D GPC1 FOXJ1 SNX10 PIK3R1 ERCC6 WIPF1 GPC4 HBB XRCC4 TET2 SUMF1 DGUOK CD3E DNAL1 MAP2K2 NCF1 COG6 COMT DCDC2 WDPCP STAT4 SLC4A1 HLA-DRB1 WAS RMRP RSPH9 GLIS3 IL23R PLEKHM1 DIS3L2 LBR RAB27A ERAP1 FOXP1 PEX5 NEU1 HIRA BRCA1 ADAR STEAP3 TNFRSF4 AKT1 IFIH1 TGFBR2 DOLK FGA CPLX1 OTC CTSA SH2B3 BCR MITF IRAK1 SOS1 LCAT GSN DNAJB13 TERT G6PD HLA-B WNT3 MKS1 BRCA2 IL2RB PEX2 FOXP3 PRKCD TALDO1 RAF1 BTK HK1 STRA6 AGA RFWD3 AK2 CCNO H19 RIT1 CR2 IL2RA MYC CAVIN1 NFKB2 ADA LRRC56 PEPD NLRP3 GDF1 CTC1 CDKN2B EPB42 SCNN1B HAVCR2 HBA2 NLRP12 RNU4ATAC MCIDAS PSAP TSC1 IFT172 NGLY1 PIGM A2ML1 SETBP1 CASR IFNGR1 GUSB SLCO2A1 EPB41 CFAP221 SDHD GFI1B CDKN1B PRDM16 STK36 OFD1 TNFRSF11A MALT1 UROS ORAI1 COG4 RREB1 DDRGK1 CD40LG NME8 NPHP3 WWOX AKR1D1 CFAP298 SMPD1 TMEM216 FAT4 RSPRY1 BTNL2 ABCG8 MEN1 BCL10 TNFRSF13C ALG9 FOXE1 LIG4 ZBTB16 ANTXR2 NAGLU MAN2B1 RASGRP1 ANK1 KRAS GPD1 ARMC4 POMP TPI1 PTPRC MMP21 ZIC3 ABCB4 DNAI1 PTPN22 ACVR2B COG2 CYP7B1 ABCD3 CENPF CCBE1 CTLA4 POT1 ASXL1 SAMD9L DYNC2LI1 GYPC CDKN1A TRIM28 GP1BB CFC1 MMUT PSMB9 SLC17A5 IDUA NFKB1 TWIST1 STAT1 CCDC151 EPG5 HYLS1 XIAP GNPTAB ESCO2 MS4A1 BRAF CDK4 FAM111A SLC30A10 MIF AIRE SEC23B STXBP2 NBEAL2 TCOF1 PIK3CA ADAMTS3 LMNA SH2D1A ALG1 TBX1 TNFRSF13B CD28 RPGRIP1L IL7R LZTR1 CCDC40 IL2RG MC1R PHKG2 JAK2 PARN IDH2 PIK3CD SPTA1 GPI TTC25 CXCR4 FASLG GABRD RSPH3 AKT2 PHKA2 ITK APOA1 HYDIN CD27 CASP8 TNFSF12 RRAS LACC1 GALE TGFB1 TP63 DNAH11 SNX14 RSPH1 CCDC47 SPAG1 MINPP1 BIRC3 CPOX LYZ STAT5B COG7 PEX7 IL12A-AS1 CTSK SPTB ERBB3 CEP55 GBE1 ELANE CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 DNAAF1 MYRF FGFRL1 KLF1 HABP2 DNAH9 LRBA RSPH4A KLRC4 ERCC8 GATA1 TNFSF11 PSTPIP1 HMGA2 PALLD CCDC65 CDKN2A POLR1D TP53 GCLC CYBC1 IRF8 VPS33A CA2 MYD88 MGMT OTULIN CLDN1 SMAD4 AP3D1 NOD2 ARVCF NUMA1 BPGM COG1 B9D1 INPPL1 SKI UNG HBG1 DNAAF6 FOS HFE CCDC103 SPP1 RNASEH2B LEMD3 PPARG GLRX5 VPS45 ATP8B1 NPM1 APOE USB1 SOS2 SLC2A1 CDKN2C DLEC1 CAV1 IL12A PRF1 NLRC4 REST NCF2 IDH1 DHCR24 ACD NSD2 NABP1 NLRP1 SCNN1G XK FUCA1 MYCN SKIV2L JMJD1C FERMT3 ARPC1B SCYL1 TRIP13 TBL1XR1 JAK3 CARD11 IDS POLR1C CSPP1 WDR35 CCDC115 DPM1 CYBB TCTN2 GAA ALMS1 BMP2 HJV FGB RNF6 CFAP410 PIK3C2A SF3B1 PSMB4 LRRC6 DNAAF5 UMPS SEC24C CTNS TMEM107 HAMP ABL1 FGFR2 DNAAF3 TNFRSF1B FLT4 CYBA CBL G6PC3 NOP10 MPI RPSA SCNN1A CD19 SLC39A4 SAMD9 GNE PML SLC29A3 RPGR SCARB2 GNS ABCB11 FRAS1 SAMHD1 CFAP300 NRAS BCL6 SPEF2 HBA1 MCM4 CARD9 TRAC NPC2 RERE ZMYND10 TNFRSF1A HBG2 UBAC2 DNAI2 ACP5 RARA NEK10 APOC2 RORC RTEL1 EWSR1 VHL ATP6AP1 FIP1L1 PNP NEK8 NOTCH1 TLR4 SLC25A13 FMO3 NOTCH2 PKHD1 INPP5E SC5D RBCK1 GAS2L2 CD247 PRKAR1A KCNN3 RASA2 ATP7B DNASE1L3 B9D2 IL10 ISG15 COG5 RNF168 INHBA CDC42 COX4I2 NF1 SOX10 STAT3 VPS13A DNAH5 FGG TTC12 HEXB RARB GATA2 TERC LPL SRSF2 PTPN11 STING1 SOX18 RBM8A DNAAF2 CD70 DRC1 IL1RN CDAN1 NHP2 TMEM231 CCDC114 HPGD TBXAS1 BTD KPTN DKC1 ALDOA AP3B1 HP_LYMPHANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIOMA PTEN CCBE1 COL18A1 FAT4 AKT1 ADAMTS3 IDH2 PTH1R IDH1 HP_ABNORMALITY_OF_THE_TONSILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONSILS IDUA JMJD1C SCNN1A ABCA1 GP1BB ARVCF SEC24C TBX1 IL2RG RSPRY1 UFD1 COMT SCNN1G ADA DCLRE1C SCNN1B HIRA BTK AKT2 RREB1 CD40LG HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY TSC1 TSC2 PIEZO1 CCBE1 FAT4 FLT4 ADAMTS3 MPI HRAS SOX18 HP_ABNORMAL_PLACENTA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTA_MORPHOLOGY PLAGL1 BCL10 STOX1 TP53 TTC37 IGF1 CORIN PHGDH MKS1 HELLPAR MUSK LMNA CFH ZMPSTE24 FGFR3 STK11 CD46 HYMAI KIT CFI FLT1 HP_CHORIOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIOCARCINOMA BCL10 TP53 FGFR3 STK11 KIT HP_SYNOVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOVITIS MAP2K1 PTPN11 NOD2 F8 LPIN2 BRAF POLR3A HP_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROSTOSIS IDUA TONSL SLC39A14 CA2 MAP2K1 HNRNPA1 KRAS GALNT3 NOTCH3 DDB2 FGFR1 WIPF1 GJA1 MAN2B1 PTEN XPA ERCC3 MAP3K7 SLCO2A1 ERCC5 RPS6KA3 ALMS1 SOST VCP THOC2 PRKAR1A TBXAS1 ERCC2 GNAQ WAS LRP5 TCIRG1 COL1A1 TNFRSF11A PTDSS1 LEMD3 SMAD4 COX4I2 SLC29A3 GNAS PIK3CA XPC TNFRSF11B AKT1 LRP4 GJB6 TNFSF11 ERCC4 ANKH TGFB1 ABCC9 FLNA HNRNPA2B1 AMER1 HP_RECURRENT_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PHARYNGITIS PTPN22 NFKB2 SH2D1A XIAP TNFRSF1A SLC29A3 HP_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXOSTOSES SHOX EXT2 PHF21A IDH1 PTPN11 PTEN COL2A1 EXT1 ATP7A AKT1 ACAN EXOC6B ALX4 COL11A2 LMX1B MSX2 B3GALT6 RAD21 IDH2 TRPS1 CHRNG HP_UROGENITAL_SINUS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_SINUS_ANOMALY GATA4 HSD3B2 SRY MAP3K1 CYP11B1 SOX9 POR ZFPM2 NR5A1 WWOX MKKS DHX37 NR0B1 WT1 DMRT3 CYP11A1 CHRM3 VAMP7 SRD5A2 HP_CONJUNCTIVAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUNCTIVAL_HAMARTOMA SDHB SEC23B AKT1 PIK3CA KRT10 SDHC KRT1 USF3 PTEN SDHD KLLN HP_ABNORMALITY_OF_THE_SACROILIAC_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SACROILIAC_JOINT DMP1 ENPP1 TNFRSF1A HLA-B TWIST2 FGFR3 HP_BREAST_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_APLASIA TP63 TBX3 ORC6 ORC4 LMNA KCTD1 REV3L ORC1 CDC45 CDC6 TWIST2 PLXND1 CDT1 IKBKG GMNN HP_INSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSOMNIA PINK1 PARK7 LIMK1 LRRK2 RFC2 ZNF365 SNCA HTRA2 BAZ1B CRY1 HLA-DQB1 CPOX SLC25A13 SIN3A GTF2I TBL2 HMBS DCTN1 ELN PODXL MEN1 FARS2 PRNP CLCNKB HLA-DRB1 VPS13C GTF2IRD1 CLIP2 SLC12A3 SYNJ1 NAGS UCHL1 TUBB3 HCRT PRKN DNAJC6 HP_HYPERSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSOMNIA SLC26A4 PAX8 FOXE1 IYD DUOXA2 NKX2-1 PRNP TG TSHR NKX2-5 GPR101 TDP2 DMPK DUOX2 AIP TPO SLC5A5 HP_PROSTATE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATE_NEOPLASM TP53 RNF43 PTEN CDH1 CHEK2 ZFHX3 EPHB2 STAT6 BRIP1 BMPR1A NAB2 GREM1 APC RAD50 RAD51D RAD51C KLF6 MXI1 BARD1 MAD1L1 BRCA1 AR NBN BRCA2 RNASEL MRE11 RAD51 PALB2 HP_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERNIA LIMK1 GLRA1 MPLKIP NEK9 KIF7 RPS28 GPHN PAFAH1B1 FANCL ARID1B TCF4 MAPRE2 ARX OCRL GPC3 FGFR1 ELN NXN MYH3 BRIP1 MED13L PORCN MYLK MED25 CHRNG TTC37 MMP14 CHD7 HSPG2 ALDH18A1 PRDM5 WDR4 HCCS WDR35 COL11A2 TTC7A NSDHL SOX11 NUP133 AEBP1 ATP7A DGCR8 PIEZO2 PHGDH ROR2 GJA1 NLRP3 SPECC1L SNIP1 SHANK3 TBX1 SLC25A22 RNF113A SETBP1 SMCHD1 SEMA3E PIGQ FGD1 XRCC4 CHST14 AMHR2 CEP120 ESS2 KCNH1 LRP2 SLX4 FLI1 NUP107 FLNB MAN2B1 GPC4 FRAS1 GLB1 SUFU DVL1 FANCB KMT2D PAX8 PLAGL1 LDHD COL2A1 MEGF8 AGA SKI RAD21 MCTP2 HGSNAT NFIX PIGN TSHB RPGRIP1L ARVCF SLC26A2 C1R FANCA TRIP11 KLHL7 DGCR6 MAPK1 MASP1 DSE ARSB BRF1 CHUK RAB23 FIBP XRCC2 WNT4 B3GLCT TENT5A HYMAI GNPTAB COL5A2 IGF2 FGFR2 BMP1 UBE2T PTCH1 SUZ12 WNT5A LTBP4 SMC1A GTF2IRD1 ADAMTS2 UFD1 MYH11 PYCR1 EFEMP2 PIGY SH2B1 FANCM RFC2 ERCC4 DMXL2 SLC6A5 NOTCH3 POU1F1 LHX4 RNF13 TWIST2 DNMT3A MEIS2 SMAD3 DIS3L2 LFNG SIN3A MMP2 CLIP2 COMT AP1S2 MTOR AR ACTG2 PIGP SLC5A5 DACT1 GORAB FUCA1 SKIV2L JMJD1C GLIS3 SMAD4 TMEM70 ERCC3 TP63 NEU1 ATP6V0A2 OSGEP FLNA DUOX2 AUTS2 HIRA BCR BRCA2 TGFBR2 ZBTB24 NELFA DVL3 FBN1 PTDSS1 TGFBR1 RAC1 IDS MN1 TRRAP GNAO1 ZFPM2 COL1A2 NFIA DNAJC21 WDR34 PIK3R1 BRCA1 ATRX EZH2 NALCN IDUA EHMT1 CDH11 HOXD13 TMCO1 SOX4 NSD2 TARS1 MKS1 B3GAT3 FREM1 MAD2L2 MED12 SLC25A24 FKBP14 PPP2R1A COL5A1 GATA4 SH3PXD2B GATA6 KCNQ1OT1 GLRB ARID1A RIN2 DYNC2H1 KCNA1 STRA6 SMARCE1 DGCR2 ELOVL4 EFNB1 CDKL5 NAA10 CLDN19 PBX1 CDKN1C KMT2A ERMARD RPS26 PIGS RPL10 ABL1 TNXB CLCN4 ARID2 TUBB HDAC4 SEC24C BSCL2 COL1A1 NEUROD2 KCNQ1 FTO KDM5B GDF1 ISL1 HDAC8 SATB2 PALB2 ABCC9 RIPPLY2 FANCE DHCR7 MSX1 GPC6 YWHAE SMARCC2 STXBP1 STAG2 IFT80 RFWD3 SMARCD1 HES7 TGFB3 TGFB2 NAT8L GUSB SRCAP COX7B SLC10A7 AMER1 NIPBL GNE GTF2H5 GLI3 SALL1 SLC29A3 FZD2 PLOD1 ZEB1 GMNN FBLN5 PLOD2 SMARCA2 HESX1 RREB1 ARFGEF2 FANCF ADNP LONP1 NECTIN1 LBR TBX3 MESP2 CC2D2A SCN2A LHX3 EOGT SMC3 GTF2E2 CASK FARSB LMOD1 FANCG GALNS ACTA2 SEMA5A TMEM107 ZNF469 TMEM67 P3H1 C1S SLC2A10 TMTC3 HELLS PRKG1 MLXIPL WDR60 SMARCB1 COL3A1 FREM2 H19 LETM1 EED PPP2R3C FANCI BCOR TRAF7 FANCD2 MBTPS2 TPRKB MECP2 IKBKG ZIC3 NKX2-5 PCNA DNMT3B BCL11B FOXE3 BAZ1B CCBE1 SMARCA4 TRIM8 ASXL1 BHLHA9 NDUFB11 NPHP3 NOTCH1 SHPK RARB DUOXA2 GP1BB NEDD4L COLEC11 RIC1 DPF2 MAF RAD51 VPS33A NOTCH2 CHST3 ATP6V1A PROP1 KIAA0586 WT1 ADAT3 INPP5E GTF2I TPO BMPER ATAD1 MFAP5 HYLS1 BRAT1 LOX ERGIC1 IRX5 CRKL POGZ ANTXR1 IFT81 CDCA7 COLEC10 AMH CBS CDC42 RLIM RAD51C PUF60 RSPO2 CTNND2 THRA KCNJ8 GRIP1 ELMO2 ERCC2 PLD1 WDR73 DLL3 CD96 ALG9 ABCD4 NSD1 DPH1 OFD1 WASHC5 SETD5 COL11A1 TRAIP CCDC22 PACS1 PIK3CA TP53RK PNKP IYD TG FANCC PPP2CA SERPINH1 SIK1 TBL2 TGDS IRF6 CTCF HIC1 ARF1 TSHR AGPAT2 WDR19 ATP6V1E1 MAT2A CUL4B TRHR KDM6A SCN1B MAP1B LAGE3 UBA1 POLA1 RPS6KA3 HP_ACANTHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOLYSIS ATP2C1 DSP KRT2 IKZF1 JUP DSG1 ATP2A2 HLA-B HP_ORCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORCHITIS IL23R MEFV IL12A HLA-B TNFRSF1A C4A IL12A-AS1 ERAP1 UBAC2 TLR4 CCR1 IL10 FAS KLRC4 STAT4 HP_TOENAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOENAIL_DYSPLASIA VEGFC SOX18 SHANK3 BMP2 BHLHA9 EVC2 TAF1 FLT4 EOGT TBC1D24 TP63 EVC GJC2 HP_FINGERNAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERNAIL_DYSPLASIA DVL3 GJA1 LRP4 NXN WNT5A FZD2 IL11RA ROR2 DVL1 TP63 SOST TFAP2A HP_APLASIA_HYPOPLASIA_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PANCREAS PTF1A GLIS3 APPL1 PDX1 ABCC8 NEUROD1 PAX4 EIF2AK3 KCNJ11 GATA6 KLF11 SLC29A3 BLK HNF1A INS HNF1B GCK RARB STRA6 CEL LHX1 RFX6 HNF4A STAT3 HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION STAT3 ADAM17 LAMB3 TSC2 WNK1 KIF1A SLC39A4 NFKB2 TSC1 LAMA3 LAMC2 RETREG1 SCN9A HP_SEPSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPSIS PLEC CYBB CYBC1 VPS33A IL7R CYBA LIG4 LMOD1 IL2RG ALOX12B G6PC3 RET BLNK WIPF1 SULT2B1 NIPAL4 CD79A ECE1 FOXP3 EDNRB NCF2 APC CTCF SEMA3C SERAC1 IKZF1 MNX1 CXCR4 IGHM MYH11 ABCA12 NFKB2 RAG1 TCF3 TFRC ELANE SAMD9 PIK3R1 MYLK RAG2 CYP4F22 NCF4 WAS COG4 GALT ADA AK2 RMRP ACTG2 CTNNB1 NRTN NCF1 FERMT3 HYOU1 BTK ATP7A CD40LG SEMA3D ALOXE3 TGM1 MMUT ITGB4 LRRC8A PGM3 DCLRE1C HLA-B EDN3 CTLA4 LIPN GDNF CD79B CHD7 IGLL1 SDR9C7 HP_LONG_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FINGERS SMS NALCN KMT2E NSDHL PRDM5 SMARCAD1 PHF6 ACSL4 B4GALT7 TUBB AMMECR1 FBN2 FBN1 CHST14 KIFBP FSHR TCF4 MAP3K7 CCNK TGFB3 TGFB2 UBE3B RPS6KA3 UPF3B SCN9A HERC1 DLX5 AMER1 MFAP5 CHD4 CHRNG PLOD1 YY1 KMT2A WASF1 MED12 FBLN5 CDKL5 PIEZO2 NFIX NR5A1 KANSL1 SCARF2 AEBP1 RREB1 LAS1L ECE1 SPEG KIF1A TELO2 LAGE3 GPR101 COL2A1 TP53RK NR2F1 BCORL1 EIF2S3 SNIP1 FIG4 DLG4 GJA1 BMP15 NKAP GATAD2B ACTA2 SLC12A6 GATA2 HDAC8 ZNF469 MYMK ASXL1 SMAD4 SLC2A10 CTSC PTCH2 PRKG1 AIP RUSC2 LETM1 EED PQBP1 SUFU NUP107 SKI UNC80 POR LARS1 ARVCF ATRX PSMB8 C1R SLC39A13 KDM1A TBR1 MAPK1 DSE BRF1 FBXO11 INPPL1 EBP FLNA ASXL3 DOCK3 HUWE1 TNNT3 RYR1 BMP1 TGFBR1 ZDHHC9 TBX4 MAF GP1BB TRAPPC9 UFD1 XYLT2 PUM1 MYH11 EFEMP2 RPL10 TRIO COL3A1 TWIST1 ALG3 FGFR2 SMAD3 ZNHIT3 FGFR3 KCNE5 SIN3A LOX COL12A1 IRX5 ELN CRKL COMT EXOC6B ACTG2 RETREG1 SH2B1 JMJD1C SPIDR TCF20 CBS PIGV PLAA POLR3H CDC42 SLC25A46 WNK1 SMC1A PCGF2 CNTN1 HIRA BCR PUF60 VPS13B TGFBR2 NELFA COL5A1 GJB4 OTUD6B TMEM94 GJB3 RAB11B COL1A2 CRLF1 TBX1 BIN1 ADAMTSL1 OFD1 SIM1 NSD2 PAX1 COL1A1 SMARCE1 GATA4 MAPRE2 KDM5C KDSR PEPD POLR3A CPT2 PYCR2 PHIP BNC1 TTN VAC14 MYLK SATB2 PIGN STUB1 COL5A2 ABL1 USP9X PSMC3IP SOX5 RUNX2 SEC24C HIVEP2 COL11A1 MAGEL2 CYP26B1 IARS2 KIF7 MAT2A NPR2 PTCH1 ARX MRPS22 PMM2 ABCC9 SON FOXE3 MTM1 OSGEP HP_APLASIA_HYPOPLASIA_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_COLON ZMPSTE24 ACTG2 GATA6 MYH11 LMOD1 GUCY2C MYLK SOX10 LMNA HP_RENOVASCULAR_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENOVASCULAR_HYPERTENSION ABCC6 ELN LIMK1 RFC2 ALMS1 BAZ1B GTF2IRD1 XYLT2 CLIP2 VAC14 XYLT1 FIG4 YY1AP1 GTF2I STAT1 COL3A1 TBL2 HP_LONG_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_THORAX COL5A2 COL5A1 PCGF2 COL1A1 NAA10 BCOR INTU TRPV4 HP_INTESTINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_FISTULA KMT2D DACT1 TCOF1 MKKS UBR1 B3GLCT CDK8 RECQL4 CCNQ KIF7 SALL1 FREM1 SALL4 IL10RB LONP1 SPINT2 TCTN3 JAK3 MNX1 POLR1C POLR1D KDM6A PIGN HP_GLOMERULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULOPATHY SMARCAL1 IL12A HLA-B BSCL2 LPIN2 ELP1 ACSL4 ALMS1 TREX1 MT-TL1 AMMECR1 WIPF1 WT1 APOE LMNB2 MEFV C4A IL12A-AS1 CAV1 CTLA4 DNASE1L3 KCNE5 UBAC2 IL10 SCARB2 HNF4A WAS STAT4 IL23R MTRR ERAP1 GLA CCR1 FOS KLRC4 HLA-DPB1 FOXC2 OCRL MT-TE LMNA HNF1B HLA-DPA1 PTPN22 AGPAT2 LMX1B TLR4 MT-TK FN1 PPARG CAVIN1 FAS PRTN3 HP_GENITAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENITAL_HERNIA SMAD3 COL5A2 COL5A1 COL1A1 RPS6KA3 COL3A1 HP_CHEILITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEILITIS IL17F TRAF3IP2 IL17RC OCRL COL7A1 CAST FERMT1 SLC46A1 CLEC7A SLC39A4 IL17RA MBTPS2 HP_LYMPHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOCYTOSIS LMNB2 BTNL2 PRKCD CASP10 IL7R SH2D1A XIAP CARD11 ARPC1B RNASEH2B FAS HLA-DRB1 ZAP70 RASGRP1 NRAS NLRP12 FASLG KRAS HP_GALACTORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GALACTORRHEA AIP CDH23 MEN1 PRLR GPR101 HP_ROUND_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_EAR TNNT3 TPM2 MYH3 ERF NALCN TNNI2 HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM TJP2 BAAT GPR35 MST1 EPHX1 TCF4 HP_NEOPLASM_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SMALL_INTESTINE APC MLH1 MSH2 SDHB KIT SDHA SMAD4 BMPR1A LMNA GREM1 SDHC NTHL1 SDHD WRN STK11 PDGFRA HP_NEOPLASM_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARGE_INTESTINE CHEK2 EPCAM DOCK8 FLCN MLH1 PIK3CA SDHB KIT CEP57 PTPRJ MINPP1 KLLN POLD1 KEAP1 DCC APC BMPR1A STK11 PDGFRA PMS2 MCC FGFR3 NTHL1 GPR35 AURKA PTEN AXIN2 DLC1 TP53 HABP2 POLE MLH3 SDHC AKT1 DMPK MSH2 BRCA1 PMS1 MSH3 MSH6 CDKN2A ENG TRIP13 PALLD TCF4 SEC23B BUB1B PTPN12 SH3KBP1 FOXE1 AAGAB PLA2G2A RNF43 COL14A1 KRAS MUTYH BRCA2 GREM1 PALB2 EP300 TGFBR2 RAD54B SMAD4 PRKAR1A BUB3 CTNNB1 BUB1 RPS20 PDGFRL MST1 USF3 SEMA4A SDHA NRAS TLR2 DICER1 MDM2 CCND1 ODC1 BAX SRC SMAD7 RPS19 FAN1 SDHD HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM MN1 PIK3CA BAP1 GLI3 TERT TSC2 KLLN SMO DLST FAM149B1 SDHB NF2 SDHAF2 VHL WDPCP TCTN3 GNAS PTEN PMS2 IFNG BMPR1A WRN EPCAM NF1 OFD1 ALX3 NTHL1 CPLANE1 TSC1 KIF7 PDCD10 SUFU PDGFRB KIAA0753 NOTCH3 AKT1 SDHD SMARCE1 NRAS MLH3 MSH2 ADAMTS3 SMARCB1 SDHC FH MSH6 PMS1 LMNA SEC23B TMEM127 MLH1 TP53 MDH2 CCND1 KRAS CHEK2 SIX6 TGFBR2 TMEM216 SDHA SOX2 MAX CCBE1 KIF1B RPS20 USF3 FGFR1 RET SEMA4A PDGFB SLC25A11 CCM2 ZSWIM6 ALX1 ARMC5 TRAF7 OCRL KRIT1 FAT4 FAN1 PDE6D HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM GLI3 EDN3 TUBB TSC2 ERBB2 KEAP1 KCNAB2 APC NF2 RAF1 POT1 PMS2 IFNG TP53 MLH1 BMPR1A MAPRE2 EPCAM GPC3 CTNNB1 SDHB RELA PTPN11 PHOX2B NUTM1 IDH2 PRDM16 PALB2 TSC1 PTCH1 PTCH2 GDNF LRP5 MLH3 MSH2 MSH3 RUNX1 CDKN2A MYO1H MSH6 PMS1 SMARCB1 DICER1 RET SETBP1 IDH1 BDNF KRAS RERE YY1 CHEK2 NF1 GPC4 KIF1B C11orf95 TGFBR2 BRD4 BRAF GABRD RPS20 BRCA2 SKI SEMA4A ASCL1 NBN SMO SUFU PIK3CA FAN1 HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION CTSC PSENEN PSEN1 BTK UBE2A LYST HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW WNT10B SMS APCDD1 KMT2D PPP1CB LRP1 PRRX1 KRT17 RPS28 NF1 LSS CDH3 HEPHL1 CCNK EDA2R NUP188 WDR35 UBE3B HR STAG1 HERC1 TWIST2 KRAS LPAR6 RNU4ATAC MED25 RAG2 CYP4F22 EDA KIFBP SHOC2 CHST3 BANF1 SF3B4 UROS TTC7A KANK2 LIPH COL11A1 FRAS1 GJB6 LMNA PEX6 WDR26 WNT10A EPS8L3 TMCO1 RIPK4 FIG4 NECTIN1 SMARCA2 RPL21 TP63 EDARADD LIG4 TBCD DLX4 SNRPE YY1 EDNRA IL7R GJB2 FLI1 OTX2 NIPAL4 LZTR1 CLDN1 KRT74 DSG4 BRAF SOX18 PPP2R3C MEGF8 EDAR MBTPS2 ABCA12 AEBP1 SPINK5 HBA1 ADA BRF1 NAA10 MAP2K1 KRT71 SIN3A GNPTAB ALOXE3 DCAF17 EBP DCLRE1C HNRNPK LARP7 KRT85 PCNT GTPBP2 ZMPSTE24 ALX1 DSP MAP2K2 IRX5 ANTXR1 ST14 KREMEN1 RMRP CDC42 ITGA3 DPH1 SOS2 PQBP1 TRPS1 TGM1 CRIPT STAG2 NSUN2 KDM1A DNAJC21 CHD7 NECTIN4 COG6 KRT25 IL2RG ALOX12B SULT2B1 KDM6A ANAPC1 AHSG RIN2 HECW2 RECQL4 VAC14 HDAC4 CDC45 ALX4 CWC27 DOLK DSC3 JUP SOS1 MAN1B1 BCL11B NFIB ITGB6 SON POLR3A LIPN TBX3 MEIS2 B4GALT7 RAG1 COL3A1 SDR9C7 HBA2 PEX1 HP_SEPTO_OPTIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTO_OPTIC_DYSPLASIA RSPO2 WNT3 PROKR2 ARNT2 HESX1 WDR11 SOX3 PROP1 OTX2 POU1F1 LHX4 SOX2 GPR161 GLI2 CDON LHX3 FGFR1 FOXA2 ROBO1 HP_ANAPHYLACTIC_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAPHYLACTIC_SHOCK TET2 RUNX1 SRSF2 CBL ASXL1 HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA STAR MRAP EWSR1 GNAS DHX37 STS NR5A1 KEAP1 DICER1 PTEN WT1 CDC73 NNT SRY FLI1 TXNRD2 AKT1 GATA4 PRKAR1A MAP3K1 MC2R SOX9 ZFPM2 IGF2 WWOX STK11 NR0B1 DMRT3 AR VAMP7 CDKN1B HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR CAMTA1 SLC1A4 DNAJC13 SLC6A8 HTT CHD2 PIGH SCN11A SUCLA2 TSC2 FMR1 KCNAB2 GBA ARID1B EFHC1 TCF4 EPCAM SASS6 KIF11 MEFV IL12A-AS1 GABRG2 ASAH1 SLC2A1 ATRX ADSL MED13L UCHL1 SLC1A2 MED25 PUS7 KMT2A SLC6A17 JRK ELP2 DYRK1A CCR1 NFIX PDGFB MLH3 SH2B1 MSH2 KANSL1 BPTF GABRD KLRC4 USP9X DGCR8 VPS13A EEF1A2 PHGDH HSD17B10 GIGYF2 WDR45 PRNP SDHB TRIP12 CYP27B1 DYNC1I2 SHANK3 ZMYND11 TBX1 SLC25A22 RAI1 ANK3 SMARCA2 KDM5C USP7 PIGQ COQ2 ESS2 GATAD2B GNAS BCOR GCH1 GYS2 MAPT ASL TIMM50 C12orf4 TREX1 AFF2 KCNT1 NTNG2 SEPSECS C4A DDX3X MBD5 VPS13C SLC25A20 UQCC2 SQSTM1 SLC6A4 DGCR6 SYN1 CUX2 ATXN1 IQSEC2 SKI HNRNPH2 HDC CILK1 GALC NTRK1 AQP2 PUS3 RNASEH2B BCAP31 TBP OCRL ZSWIM6 EBP TP53 GLRX5 QDPR ACAT1 AVPR2 LARP7 SDHD NAGS DDC FAS MED12 TBC1D23 C9orf72 GAMT TARDBP PIGY DNMT1 IL12A PRF1 SLC52A2 TRIO PLA2G6 DMXL2 PSMD12 SDHAF1 TTC19 PRRT2 TK2 SLC9A6 IMPA1 LRRK2 PPP2R5D GRN FIG4 GCDH EP300 NSDHL FRMPD4 DEAF1 ITPA SIN3A CACNB4 GRIA3 GABRA1 PIGP ZFYVE26 ST3GAL5 IL23R TCF20 ERAP1 WDR62 DCHS1 ATP13A2 SOX5 VDR TTI2 USP8 DMPK ADAR ENTPD1 IFIH1 ATP5F1A SYT1 CLP1 CHMP2B MSH6 NAA10 PMS1 CREBBP GNAO1 RAB11B SMARCB1 PRODH PRKAR1A SLC19A3 RERE ZEB2 EHMT1 VPS53 PCDH19 HLA-B FBP1 PTS HMGCL ASPA STX16 AVP FAT4 PSEN1 NDP NDST1 PACS1 NDUFS1 KCNA1 RNASEH2C AIP DGCR2 ALPL CDKL5 GJB2 HECW2 RPS20 AP1S2 SATB2 ST3GAL3 PYGL CLCN4 HPRT1 CPOX NEUROD2 PAH EIF2S3 ABCC8 MT-ATP6 EIF4G1 PYCR2 GABBR2 FGF14 SLITRK1 SMARCC2 AIFM1 NALCN DHCR7 KMT2E PTCHD1 CHCHD10 RTTN SLC46A1 STXBP1 SLC25A13 SARS1 PMS2 CPS1 RORB RPS6KA3 NAT8L OTC SLC39A4 GRIN1 SETD2 SYNJ1 TUBB3 FUS PRDM16 VAMP2 HLCS WASF1 SNCA HSPG2 MANBA TMEM231 CLCN2 WARS2 COG4 TMEM237 HIBCH UBE2A CPLX1 JPH3 ADNP SAMHD1 NAXD ATP1A1 PODXL NACC1 SCN2A SPAST TMCO1 SLC25A1 ACOX1 TCN2 GCSH CASK LINGO1 MECP2 GLS NKAP CTNNB1 HDAC8 NIPBL NRXN1 NFASC NAGLU PPT1 TGFBR2 RUSC2 NHLRC2 HTR2A UBAC2 AP2M1 TMEM106B SPR GLDC ADAT3 SEMA4A HEXA PARK7 HTRA2 TMEM240 KMT2C WAC TBC1D24 ABCA12 TREM2 VPS35 TRIM8 CACNA1A ASS1 RBBP8 TLR4 ARX UBTF PANK2 NONO PIK3CA VCP FAN1 TYROBP NDUFAF4 CUL4B PINK1 DNM1 CEP152 SDHA INPP5E BMPR1A SLC6A1 GM2A TBK1 ATP7B ALDH5A1 KIF15 SRPX2 THOC2 UNC80 WDR26 IL10 LEPR POGZ ZBTB20 GRIN2A PIGL FOXP1 SLC25A19 PRKAR1B STAT4 KCNQ3 IBA57 CLN8 DNMT3A SMC1A RPL10 RLIM SLC6A3 MYT1L ARG1 FOXG1 HERC2 GRIA4 ATXN10 CLTCL1 CNTNAP2 SPG21 MLH1 PRKN FLII TH DPYD KRAS PNKP TKT DCTN1 ABCA2 MGAT2 HLA-DQB1 TSC1 PAK3 SIK1 PHIP MAN1B1 GABRB3 SCN1A KNL1 RNASEH2A PDE11A PSAP LINS1 DPAGT1 MAOA CYP2R1 MAPK10 UROC1 UBA5 ECM1 NFIB KPTN AMT MAB21L1 NDE1 SCN1B SPATA5 SLC16A2 DNAJC6 HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR PPM1D RRM2B PFN1 CBL KMT2E ADCY5 LIMK1 TSC2 DAO FMR1 FGFR1 CPOX SDHB SDHAF2 VHL PMS2 DRD2 EPCAM NF1 KISS1 ELN MT-TF GABRG2 PON2 SLC6A19 CLRN1 SCN1A PON1 PINK1 SETD2 SYNJ1 MAPT UCHL1 NIPBL PSEN1 ADGRV1 RAI1 SPRY4 PPARGC1A TACR3 FGF17 HNRNPA1 GNA11 TBX1 MSTO1 SNCA HSPG2 COMT GLA CHMP2B CACNA1H SCN9A KCTD17 SDHD MT-ND1 MT-ND4 PDGFB MLH3 MSH2 KANSL1 BPTF RREB1 PROK2 MYO7A FUS VPS13A SDHC FH JPH3 USH2A ADNP ATP1A3 PODXL GLE1 PRNP SGCE USH1C MT-TQ GPR101 RUNX1 MATR3 MAN2B1 TMCO1 SPECC1L PON3 WHRN SMC3 NEK1 KMT2A GABRA1 CIZ1 MECP2 PDGFRB COQ2 TOR1A LRRK2 GNAS OPTN YY1 PRRT2 NFASC STUB1 PDZD7 NFIX MLXIPL C9orf72 AIP GLT8D1 TGFBR2 UNC13A GNRHR MT-CO3 WDR11 GRN SDHA YWHAG WFS1 RAD21 ANOS1 HTR2A ARVCF VPS13C SLC6A4 ANXA11 POLG EPAS1 IQSEC2 SEMA4A PARK7 HNRNPH2 POLG2 GCH1 HTRA2 BAZ1B SLC25A11 MT-TS2 ERBB4 TAF1 WAC UBQLN2 TAF15 NDP SLC45A1 ASXL1 SQSTM1 ATXN2 OCRL TP53 CDH23 LARP7 TLK2 SCN1B CLN3 PCDH15 GP1BB SMC1A USH1G NONO HS6ST1 GTF2IRD1 HARS1 KPTN PIK3CA UFD1 MT-TH NAGS FAN1 ACSL4 CCNF ARSG TET3 TWNK RET RFC2 PSMD12 TTC19 NR3C1 DLST CLCN4 VCP PDE10A GTF2I BMPR1A TET2 DCTN1 FOXP1 EP300 TBK1 TAC3 CACNA1A PROKR2 MEN1 ALDH5A1 DEAF1 SRPX2 THOC2 TREM2 CLIP2 GRIN2A PRKAR1B XK JMJD1C NEFH TCF20 SOD1 FIG4 HCN1 DNMT3A SOX5 PRPH USP8 DMPK RLIM CEP78 HIRA PPOX PQBP1 TARDBP RNF125 MT-CO1 SPART STAG2 MSH6 STXBP1 PMS1 CREBBP MT-TW JRK MT-ND5 PRKAR1A CHCHD10 ASH1L GABRB3 TMEM127 DUSP6 HBB CASR MLH1 DPH1 PRKN FLII SETD5 MDH2 MT-ND6 EHMT1 PCDH19 SRSF2 KRAS GABRD CHD7 NKX2-1 STX16 HLA-DQB1 ANG TSC1 VAPB CFAP410 PAK3 STX1B TBL2 CIB2 HMBS PPP2R2B PHIP MAX KIF1B FA2H RPS20 ESPN SATB2 MT-CO2 PDE11A SCN2A SLC35C1 SEC24C GNRH1 HIVEP2 IGF1R FLT4 EPHA4 TMEM106B FGF8 NSMF BCL11B GM2A SLC2A1 NFIB SLC25A4 MT-TL1 HDAC8 KISS1R ARID2 PAH DNAJC6 HP_APLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_MUSCULATURE CHRNG TRPV4 CHRNA1 LMX1B PLXND1 CHRND TBX5 TBX3 MYMK REV3L HP_DUODENAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_STENOSIS FANCE FOXF1 FANCG FANCM ERCC4 XRCC2 CDC45 TTC7A MAD2L2 SLX4 GATA1 FANCC FANCL RFWD3 RAD51C BRCA2 UBE2T FANCF FANCI RARB STRA6 FANCD2 BRIP1 FANCA PALB2 BRCA1 FANCB RAD51 HP_PALMAR_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_TELANGIECTASIA SOX18 GPR35 LBR MST1 TCF4 HP_ABNORMALITY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALM TWIST1 GLE1 CTBP1 B4GALT7 KRAS ARID1B TCF4 LTBP3 MYH3 PWAR1 MBTPS2 DDX11 SDR9C7 CTSB ATR GPR35 KRT5 IFT80 MED25 ATP6V1B2 FGFRL1 KCNH1 CHD7 CDKL5 WDR35 PTCH1 SOX11 KANSL1 COL17A1 SMARCAD1 SHOC2 TELO2 KRT9 ROR2 COL2A1 FGFR1 HDAC6 PCYT1A SPECC1L SNIP1 B3GALT6 NECTIN1 HRAS KRT83 TFAP2A SEMA3E PLEC FGD1 CHST14 BCOR CKAP2L ZC4H2 PEX12 CTCF ESCO2 MAP3K7 PTCH2 DVL1 INPPL1 BRAF SUFU RAD21 MCTP2 RSPO1 C1R TRIP11 MST1 NDN MAPK1 DSE EXT1 BRF1 COG4 ITGB4 SLC18A3 GJB6 UBR1 GDF5 RHBDF2 RAI1 FGFR2 KRT14 WNT5A MAGEL2 COMP SMC1A PEX1 HNRNPK GJB2 LETM1 STAG1 SNORD115-1 PEX6 RBM10 RPL10 PORCN TBCE TGM1 PEX19 INPP5K SIL1 ADAMTS10 GPC4 SLC39A13 FOXP1 FGFR3 EP300 DSP NSD2 SIN3A SNRPN CSTA MTOR DOK7 SMAD4 LBR PLAA PEX5 WNT10A ATP6V0A2 FLNA AUTS2 BCR CEP55 STXBP1 SMS DVL3 CPLX1 NAA10 CREBBP RAB11B LMNA WDR34 COG6 DYM DPM1 NALCN ZNF469 KDSR SOX4 RMRP KRT10 PEX2 PNPLA6 TNNT3 MED12 TERT SLC25A24 NBAS TRPV3 VPS13B RNU4ATAC ARID1A RIN2 DYNC2H1 FBN1 SMARCE1 CHSY1 PIK3R1 PWRN1 KMT2A PIEZO2 TRPS1 PIGS IHH NOG ARID2 HDAC4 TNNI2 NGLY1 XYLT1 BMP4 DOCK6 IFT122 EVC2 CIB1 RECQL4 HDAC8 GPC3 PEX16 NUP88 LIFR IGF1R BMPR1B SMARCC2 KRT17 G6PC3 AMACR KAT6B SETBP1 SMARCD1 NUP188 SLURP1 KRT1 FGF9 PIGL TPM2 NIPBL B3GLCT FZD2 PLOD1 BHLHA9 COL11A2 CTSC PEX13 SMARCA2 PKP1 PEX10 PEX11B UBE3B ADNP EXOC6B YY1AP1 NPAP1 GPR101 RSPRY1 FERMT1 RAB3GAP2 TCF12 FIG4 SMC3 ATRX AAGAB NXN DLX4 YY1 ASXL1 ANTXR2 IFT57 AIP WDR60 SMARCB1 SOX18 PPP2R3C KCNJ2 IGF1 AIFM1 LAMB3 PTDSS1 SLC2A10 LAMC2 MAP2K1 EXTL3 PIK3CA PEX26 CCBE1 SMARCA4 UBA1 ATP7A SMOC1 HERC2 TBX4 ADAMTSL2 PLOD3 DPF2 RAPSN VPS33A SLC16A2 MBD5 HPGD RIT1 LAMA3 PEX14 GATA1 LMX1B PTEN MAP2K2 KCNN3 APC THOC2 CHST3 CRKL EHMT1 KRT6A RPS23 AKT1 AAAS PUF60 DIS3L2 ANKRD11 MKRN3 CRLF1 TBL1XR1 ADAMTSL1 ORC1 NECTIN4 DPH1 OFD1 CAMK2G SIM1 SETD5 PACS1 SNORD116-1 MYOD1 COL11A1 PPP2CA MAPRE2 GPX4 TRIO ASXL2 KDM5C TGDS PEPD PEX3 ATP2A2 PRKAR1A GJA1 VAC14 FHL1 EVC CDK10 PTH1R BGN TGM5 PERP MUSK KRT16 DPAGT1 CUL4B SERPINB7 COL9A2 RPS6KA3 CD96 WDR81 HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT KRT14 TGM1 KRT5 HPGD B4GALT7 RIT1 KRT17 LAMA3 KRT10 PLEC EP300 PTEN DSP SLURP1 KRT1 KCNN3 MBTPS2 BRAF ATP2A2 SDR9C7 CTSB MTOR PIGL ATP6V1B2 PTCH1 KCNH1 PLOD1 PLAA KRT6A ERCC6 WNT10A AKT1 CTSC ATP6V0A2 AAAS COL17A1 PKP1 NECTIN1 KRT9 CREBBP KCNJ8 COG6 GPR101 FERMT1 TBL1XR1 HRAS AAGAB KRT83 ZNF469 KDSR ASXL1 TERT TRPV3 PTCH2 AIP SUFU SOX18 RSPO1 PIGN GJA1 C1R ABCC9 LAMB3 LAMC2 ITGB4 PERP GJB6 GMPPA KRT16 PIK3CA FGFR2 SIN3A RHBDF2 SERPINB7 HNRNPK USB1 GJB2 TRAPPC11 HP_THICK_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_HAIR MSTO1 VPS33A ATP6V1E1 SMC3 ATP7A ATP6V0A2 ATP6V1A ASXL1 AFF4 NEK1 CLDN1 INSR KLHL7 SIN3A COG4 VPS13B HP_ENLARGED_OVARIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_OVARIES SDHB AKT1 HSD3B2 CYP19A1 PRKAR1A PIK3CA CYP11B1 SDHC POR INSR KLLN SEC23B CYP17A1 ESR1 FSHR CYB5A PTEN STK11 USF3 SDHD HP_ABNORMALITY_OF_GLOBE_LOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_LOCATION STIM1 TWIST1 PROKR2 FGFR3 CTBP1 CAMTA1 PHF6 INSR NEB KIF7 KRAS BLNK LRP4 KCNAB2 WDPCP ARID1B PTEN RAB3GAP1 SOX9 TCF4 GPC3 KISS1 RRAS2 CLP1 CTLA4 CC2D2A SIX3 FGFR2 BRIP1 COL2A1 ATRX MED25 CBL TCF12 SPRY4 STAT3 TACR3 TTC37 SALL4 NSD1 BPNT2 KCNH1 FGF17 PUS7 CHD7 COLEC10 COX7B CACNA1G SH3BP2 KMT2A GSC TGIF1 SHOC2 GLI2 BANF1 COL11A2 BGN DHPS PTCH1 BPTF NUP133 SEC23A RAF1 KCNQ3 SRD5A3 KCNK4 FGFR1 GJA1 FAM111A AKT1 VSX1 DYNC1I2 OGT ZMYND11 HRAS RNF113A SETBP1 RAI1 TFAP2A CEP57 PDGFRB SEMA3E XRCC4 CHST14 CHRND RPGRIP1 CEP120 GATAD2B HDAC8 CKAP2L RMRP MRAS SLX4 ESCO2 NUP107 PTCH2 SUFU GNRHR CHRNG DVL1 INPPL1 WDR11 BRAF NFIX CEP290 CASK GREB1L FLCN TPM2 EXOSC9 SCN8A COL11A1 AKT3 FANCA KLHL7 TBR1 DSE FBXO11 COG4 PHGDH CHD3 TAF1 SEC24D XRCC2 TMEM67 ITCH NKX2-5 OFD1 CDON DICER1 HYMAI ZFPM2 ALKBH8 FGF8 SSR4 CRTAP OCRL SUZ12 EBP PIK3R2 ACTL6B GATA6 WNT5A ATAD3A HSD17B4 ANKH LTBP4 LARP7 UFD1 LETM1 FANCB TDGF1 NF2 SH3PXD2B MYH3 GPKOW HACE1 PIGY TBCE SH2B1 SMARCD1 FANCM TRIO TBX1 SMO ACTA1 GPC4 SLC9A6 ZMPSTE24 TONSL DPF2 C12orf57 EP300 ALX3 ALG13 BAP1 EXTL3 DEAF1 MAP2K2 SIN3A PDE4D COMT POR PLK4 DOK7 FANCL ERF ERCC3 MAFB DCHS1 ITGA3 PEX5 PDHX ATP6V0A2 TSHR DNMT3B SOS2 PPP2R5D HIRA BCR TBCK TGFBR2 FBN1 CRIPT PTDSS1 CPLX1 TGFBR1 CREBBP TMEM94 MN1 LMBR1 DNAJC21 DUSP6 RPL35A IGLL1 SOS1 CRPPA EZH2 NALCN TMCO1 NSD2 GATA5 MKS1 FREM1 CHRNA7 PEX2 MAD2L2 MED12 FGD1 NBAS ERCC4 PPP2R1A GATA4 SPART PACS1 NODAL GJA8 TGFB1 KIDINS220 PIK3R1 KIAA1109 NAA10 HECW2 XYLT2 CDKN1C AGA HUWE1 PIEZO2 PIGN ABL1 PLEC RIT1 JAG1 CDC45 XYLT1 KCNQ1 TNFRSF11A IGF1R ALX1 PEPD FAT4 NSMF KIAA0556 PRKAR1A BCL11B TAPT1 DLL1 QARS1 ALG8 IFT122 EVC2 PMM2 RET SMAD3 POLR3A PALB2 KISS1R THOC6 PDE6D P4HB RNU4ATAC DHCR7 KMT2E SNAP29 MASP1 RTTN TUBB SLC1A4 STRADA TCTN3 EIF2AK3 RECQL4 PPP1CB A2ML1 MAPK8IP3 TGFB3 RPS6KA3 BRCA1 PGAP3 HHAT MSX2 PIGL CDK5RAP2 QRICH1 CPLANE1 B3GALT6 AMER1 B3GLCT PRDM16 FZD2 MEF2C ADAMTS3 WASF1 LMNA PIK3CA CANT1 COLEC11 ORAI1 TXNL4A RREB1 TWIST2 LAS1L TMEM237 UBE3B LRP5 LBR PAH WASHC5 TMEM216 RSPRY1 BCORL1 PITX2 DCPS CHSY1 TRIM37 ACTB GLI3 CDH1 PRKDC ALG9 TRMT10A NXN ACTA2 SLC12A6 SEMA5A COG1 FBLN5 NFASC P3H1 SMAD4 UBE3A MAP3K7 HELLS RPS7 PRKG1 ADGRG6 FLT4 EED PSMD12 SHH KCNJ2 ANOS1 FANCD2 NF1 DISP1 ZIC3 CTNND1 RIPK4 LRP2 DVL3 FLNA IL11RA EEF1A2 CENPF CCBE1 PTH1R HS6ST2 GK ATXN3 THRB TRAF7 PIGO EXOSC2 TBX4 GP1BB NONO ACTG1 SRC ERCC1 RAD51 SLC16A2 ATN1 COL3A1 ADAT3 LIG4 ZIC2 WDR19 MAP2K1 EXT2 MFAP5 EPG5 APC MUSK TPM3 KIF15 GNPTAB LOX CHST3 IRX5 CRKL COL1A2 ZBTB20 FAM20C IFT81 CDK13 CDCA7 PIGV SLC9A7 TCOF1 DPH1 SMC1A IFT43 FH RLIM GBA RAD51C PACS2 PUF60 DIS3L2 SMARCB1 SLC25A24 CTNND2 CDC42 ALG1 ELMO2 ERCC2 NKX3-2 TBL1XR1 TBC1D24 POC1A FLII RPGRIP1L CHRNA1 LZTR1 CCDC22 MYOD1 PRPS1 POU1F1 TFAP2B PPP2CA ALDH6A1 ASXL2 KDM5C SERPINH1 ATP6V1A ACY1 CTCF DHX37 PIGW PHIP MAN1B1 GABRD ADK TBCD PEX6 CDK10 ATP6V1E1 CSPP1 AHDC1 ITGA8 GNRH1 NOTCH3 SMARCE1 RRAS ZSWIM6 IARS2 MAT2A CENPJ ANKRD11 BUB1B COL1A1 SETD2 PIGG NDE1 RPS19 ABCC9 LAGE3 ANTXR1 PHACTR1 OSGEP SMS SLC39A14 CCDC47 TMEM231 FMR1 GJA5 MPLKIP B4GALT7 PRRX1 WDR35 PAFAH1B1 FGF20 CD79A AFF4 DDX59 CCNK FLNB CTSK FOXH1 STAG1 DPM2 CEP55 MED13L MRPS14 POLR1A ATP6V1B2 NGF FGFRL1 BMP2 PAX3 NRAS WDR4 RUNX2 CDKL5 DYRK1A PPP3CA KANSL1 TBX15 TELO2 ROR2 HMGA2 POLR1D TRIP12 FIBP SPECC1L RARS2 SHANK3 MMP2 MTOR SRCAP MYD88 FLI1 AGL MAN2B1 OTX2 FRAS1 GAS1 PLAGL1 MEGF8 NTNG2 SKI MIR140 MCTP2 AP3D1 ARVCF KIAA0586 PRUNE1 RERE GZF1 MAPK1 B9D1 SMCHD1 CTU2 HBA1 LRPPRC PTPN11 IQSEC2 ASPM HNRNPH2 SLC18A3 MED13 TBX2 IL1RAPL1 IGF2 STAMBP LEMD3 HLA-DPB1 COL27A1 UBE2T HERC1 PRRT2 BNC2 ASXL3 MAF PEX1 HS6ST1 USB1 SOST MYH11 CCND2 RBM10 SEPTIN9 GPT2 CDH11 FAR1 ADAMTS10 MOCS2 SLC39A13 MEIS2 FOXC1 FOXP1 ARNT2 ZBTB24 SPINT2 ACOX1 GRIA3 ELN GORAB KCNMA1 OPHN1 FUCA1 SKIV2L GLB1 JMJD1C TCF20 ZBTB18 RPL5 TBC1D20 TTI2 ERCC6 CNTN1 AUTS2 BRCA2 NELFA NSUN2 POLR1C DNM1L NDP TRRAP DDR2 CITED2 RYR1 FGF9 PRTN3 EMC1 PYCR1 DPM1 ZEB2 EHMT1 TCTN2 SLC35A1 TARS1 B3GAT3 ALMS1 SIX2 SON ALX4 KCNQ1OT1 CSNK2A1 RAB3GAP2 EFNB1 KCNJ6 EFEMP2 PPP1R15B MYLK UMPS INTU HDAC4 NGLY1 SEC24C PYCR2 TMEM107 DOCK6 PRMT7 RB1 TPRKB PGAP2 NUP88 FANCE TRIP4 GDF1 YWHAE STAG2 NTRK1 RFWD3 PSAT1 TGFB2 PARS2 NIN SMG9 IGHM CRB1 TTC7A GNE GTF2H5 CHD4 SLC29A3 LRRC8A KIFBP HSPG2 KLHL41 INTS1 PROK2 UBE2A FANCF SCN2A EXOC6B CNOT1 HYLS1 TP53RK SLC26A2 SPRED1 ABCA12 FIG4 GTF2E2 ALDH18A1 NLRP3 AP4S1 FARSB FANCG DLX4 NIPBL GATA2 ASXL1 PTRH2 SLC2A10 RSRC1 ANK1 MLXIPL KIAA0753 TAZ CHD8 RUSC2 FREM2 PCLO FANCI UGDH APC2 PAK1 PIGA AIFM1 CAMK2A FGF3 CHN1 PDGFB KCNQ2 WAC SLC45A1 MOCS1 HLA-DPA1 FBXO31 SHPK FGF10 PLOD3 TRAPPC9 SHROOM4 NKX2-6 GPAA1 RAPSN MSTO1 NOTCH2 PEX3 TERT FAM149B1 MID1 BMPER IFT52 TAC3 KCNN3 RASA2 KBTBD13 THOC2 B9D2 POGZ KREMEN1 BMPR1A DNMT3A KLF13 MYPN TENM3 PTPN22 THRA ALPL GRIP1 BRPF1 KDM1A ARCN1 WDR73 CD79B KAT6B ZIC1 EBF3 ABCD4 SIM1 AVP DPYD SET HNRNPU MARS2 FANCC MAPRE2 SIK3 POLD1 ERMARD TGDS VAC14 TCF3 EVC KCTD1 TCIRG1 KNL1 USP9X MITF GLE1 FOXE3 AP1S2 HBA2 CIT HP_ABNORMALITY_OF_GLOBE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_SIZE PAX2 RSPO2 FANCE RAB3GAP1 PHGDH KCNJ1 MPLKIP RTTN TUBB POMT1 ARHGAP31 TCOF1 FANCL SMO PTEN RFWD3 SLC38A8 FKRP MAPRE2 ERCC3 PEX7 NUP188 LARGE1 KIF11 BEST1 SIX3 BRCA1 CRB1 SMG9 PRSS56 BRIP1 CEP55 GMPPB COX7B RAB3GAP2 ATR MED13L PORCN MED25 GTF2H5 GLI3 ERCC1 SALL4 YAP1 FUT8 PAX6 DPYD GJA1 CHD7 MFRP POMGNT2 HCCS CC2D2A FKTN PTCH1 GNAQ RHOA INTS1 NCAPG2 MBTPS2 RREB1 GDF3 FRAS1 PIEZO2 TMEM237 TMEM98 SEMA3E FANCF HRAS WDR26 FGFR2 TRIP13 HDAC6 FAM111A POLR1D HYLS1 TMEM216 ATOH7 TCTN2 FIG4 GTF2E2 ACTB RNF113A PITX3 FANCC POMK TFAP2A SMCHD1 RPGRIP1 CEP120 VSX2 FANCG BCOR DOCK6 PHYH SLX4 FGFR1 ESCO2 TBX15 IKBKG RBBP8 POMGNT1 FREM2 FANCB NRAS SALL1 SOX2 FANCI RPGRIP1L FREM1 MIR140 SHH BUB3 CEP290 PIGN CASK ERCC2 FANCD2 ARVCF DLL4 PSMB8 FANCA RERE ERCC5 KIF7 TBR1 B9D1 RIPK4 DONSON KRAS MAB21L2 COL4A1 RAB18 RBPJ NAA10 LRPAP1 XRCC2 TBC1D20 TMEM67 CENPF NDP KCNJ6 SIN3A ALKBH8 VAX1 NDUFB11 LRP5 POMT2 OCRL UBE2T SMOC1 EBP CPSF1 FOXE3 PXDN RARB GP1BB CSPP1 UFD1 SH3PXD2B RAD51 MSTO1 GDF6 SH2B1 WNT3 DACT1 CEP57 CHST3 FANCM ERCC4 ERCC6 RBP4 ALX1 ALX3 PIK3R2 HMX1 KIF14 B9D2 ACTG1 PDE6D COMT WDPCP CRYAA PLK4 ABCB6 NHS CRPPA TWIST1 JMJD1C GLIS3 B3GALNT2 PIGV SYCE1 ASPH FGF3 TENM3 NOTCH1 HIRA RAD51C PQBP1 PUF60 BRCA2 TKFC AKT1 RXYLT1 GLI2 GRIP1 FOXL2 POLR1C TBX1 TBL1XR1 ADAMTSL1 BUB1B ZEB2 PIK3CA C12orf57 TUBGCP6 MT-CYB BMP4 TARS1 MKS1 B3GAT3 CTDP1 DOCK7 MAD2L2 SIX6 SLC25A24 ALX4 EOGT ALDH6A1 ALDH1A3 DAG1 VPS13B FBN1 STRA6 SETD5 CHSY1 PTCH2 B4GAT1 VAC14 CYP1B1 XYLT2 BUB1 RAX MITF INTU TMEM231 HMGB3 SEC24C SMAD4 TUBGCP4 TMEM107 ARX MAB21L1 RB1 RECQL4 PALB2 SUFU WDR73 OTX2 OSGEP HP_RECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_POLYPOSIS BMPR1A GREM1 ENG SMAD4 MUTYH HP_CONNECTIVE_TISSUE_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONNECTIVE_TISSUE_NEVI COL5A2 COL5A1 TSC1 LEMD3 TSC2 SLC25A24 PTEN COL1A1 IFNG HP_SCLEROSIS_OF_FINGER_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_FINGER_PHALANX ERCC6 TRPS1 EIF2AK3 NGLY1 GJA1 ERCC8 HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY RPGRIP1L XPNPEP3 NPHP4 DYNC2LI1 DYNC2H1 JAG1 TMEM216 SDCCAG8 PKHD1 NIPBL IQCB1 IFT43 TMEM67 FAN1 NPHP1 IFT172 WDR19 COQ7 ZNF423 NPHP3 CEP83 ANKS6 MUC1 NEK8 OSTM1 GLIS2 CC2D2A CEP164 WDR34 INVS DCDC2 TMEM138 TRAF3IP1 TTC21B AP2S1 MAPKBP1 WDR60 CEP41 AHI1 CEP290 UMOD IFT140 CRB2 IFT80 BSND TRIP11 CEP120 HP_NARROW_FORAMEN_OBTURATORIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FORAMEN_OBTURATORIUM CAV1 HLA-DRB1 CCN2 CCR6 KIAA0319L IRF5 HP_SHYNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHYNESS NONO AP4M1 C12orf4 AP4E1 SETD2 POLA1 DPYD AP4B1 RLIM AP4S1 HP_HYPERESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERESTHESIA GALC ATL1 NALCN COL1A1 UNC80 PSAP HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE BRF1 FANCE NSDHL FANCG FANCM ERCC4 SNORD116-1 XRCC2 MAD2L2 SLX4 FANCC CHD1 FANCL RFWD3 RAD51C LMX1B BRCA2 STXBP1 SYT1 UBE2T UBE2A FANCF FANCI HERC2 NPAP1 ATRX MKRN3 KIF15 MAGEL2 FANCD2 SNRPN PWAR1 BRIP1 FANCA PALB2 PWRN1 BRCA1 FANCB SNORD115-1 NDN PUF60 RAD51 HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES SNX14 LIFR KMT2D FANCE PIGY RNU4ATAC GPC6 LIMK1 TRMT1 PHF6 CLCN4 MASP1 TUBB KRAS KAT6B ARX FANCL RFWD3 FOXG1 FTSJ1 CCNK COG7 CLP1 ELN UBE3B UPF3B MED12 BRCA1 HHAT BRIP1 MOGS PYCR1 ATR POLR1A RAB39B HCFC1 CHD4 SALL4 FZD2 GJA1 SMO COLEC10 CACNA1G ARHGEF6 KMT2A HSPG2 SLC6A17 COLEC11 CXorf56 RHOA MAFB AUTS2 TXNL4A KANSL1 ABCC9 SMARCA2 INTS1 SCARF2 ZNF148 TBX15 DGCR8 PIEZO2 FANCF ADNP ROR2 DCHS1 TRIP12 FAT4 IL1RAPL1 B9D2 ERF TBX1 ACTB ATRX CEP57 NXN ESS2 FANCG GATAD2B TMEM107 SLX4 SLC2A10 ANK1 MLXIPL DVL1 SALL1 BRAF PAX3 PCLO FANCI MIR140 MCTP2 KCNJ2 BCOR CEP152 SOX11 UGDH FANCD2 CNKSR2 RPS6KA3 MID2 FANCA RERE DGCR6 MECP2 MAPK1 PRMT7 DONSON MAP2K1 CHN1 HNRNPH2 BCL11B FOXE3 BAZ1B MED13 FIBP XRCC2 B3GLCT TSPAN7 RBMX SOX9 PIGO BMP1 UBE2T EXOSC2 SMOC1 WNT5A TLK2 THOC6 LMNA HNRNPK GTF2IRD1 ACTG1 DVL3 LARP7 FANCB ERCC1 PIGV GPKOW RAD51 RBM10 PTCHD1 ACSL4 RAC1 SEPTIN9 DACT1 FANCM RFC2 ERCC4 PCNT LIG4 ZMPSTE24 GTF2I DNMT3A FOXP1 USP27X PIK3R2 MAP2K2 MUSK KIF15 PDE4D CLIP2 CRKL MYCN CDK13 SMAD4 STAC3 ERCC6 SMC1A PCGF2 ALG13 TENM3 AGTR2 PIGL BCR RAD51C BRCA2 IQSEC2 PAK3 NSUN2 ANKRD11 OTUD6B FOXL2 PGM3 BRPF1 TBL1XR1 ZNF41 CLTCL1 ORC1 WDR35 CAMK2G FRMPD4 RAB18 ZNF711 MAD2L2 DLG3 FANCC SLC25A24 KDM6A MAPRE2 SYP ATP6V1A TBL2 ERMARD RECQL4 GDI1 RBPJ PIGW DMD MYH3 SETD5 DGCR2 SLC9A7 STRA6 EFEMP2 HUWE1 KCTD1 RPL10 USP9X ALX4 MAGEL2 BPTF TP63 CUL4B DOCK6 NFIB KPTN PGAP3 PALB2 PGAP2 PUF60 ARID2 ZNF81 HP_NEOPLASM_OF_FATTY_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_FATTY_TISSUE CCL2 MSTO1 AKT1 MT-RNR1 FLCN PIK3CA KRAS MT-TS2 KLLN FGFR1 APC TAF1 PTEN SDHB ALX3 VANGL1 MT-TP CDKN1B MT-TQ CDC73 USF3 ABCC6 TBXT RPL10 AP2S1 BMPR1A SDHC MT-ND5 ENPP1 MFN2 MT-TK MEN1 FUZ ZSWIM6 ALX1 GNA11 VANGL2 CDKN1A MT-TF SEC23B MT-TH CDKN2B SPRED1 CDKN2C MT-TL1 LEMD3 SDHD HP_CORNEAL_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_EROSION FGFR3 ALOXE3 PRDM5 ELP1 COL4A4 ZNF469 GJB2 COL7A1 KIFBP TWIST2 CERS3 TGFBI ALOX12B CHST6 SPINT2 NTRK1 IKZF1 COL17A1 MBTPS2 FGFR2 COL4A3 PNPLA1 FOXC2 KRT3 SLC39A4 ALDH3A2 PLCG2 TGM1 NIPAL4 FOXE3 UROS GJB6 CTNS MMP1 COL4A5 FGF10 HLA-B MPV17 FERMT1 GATA1 ABCA12 CLTCL1 TP63 HP_DOWN_SLOPING_SHOULDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWN_SLOPING_SHOULDERS TRMT10A EFNB1 SEMA3E TBX5 CHD7 LIMK1 RFC2 BCOR BAZ1B ELN RUNX2 PIEZO2 TRPV4 PTCH1 EYA1 MLXIPL GTF2I SPRTN TBL2 LMNA ATP7A CUL4B PPP1R15B PAX1 NAA10 OTUD6B GTF2IRD1 PTCH2 CLIP2 IRX5 SUFU HP_OCULAR_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_PAIN GNA11 CYSLTR2 BAP1 SLC39A14 GRHL2 VSX1 GNAQ SF3B1 COL8A2 SCN9A OVOL2 CHST6 ZEB1 HP_PAPULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPULE PLEC AKT1 COL7A1 PIK3CA IL12A HLA-B GGCX LPIN2 LRP1 CYLD NAGA KLLN IL17F IL17RC NF2 AQP5 COL1A1 ERCC4 ELOVL4 MVK NLRP3 SDHB ABCC6 PEPD MEFV CARD14 C4A IL12A-AS1 CTLA4 UBAC2 IL17RA NOD2 ANTXR2 MBTPS2 CSTA GJB2 PTEN IL10 CIB1 XYLT1 GNAS USF3 EGFR TMC8 POFUT1 STAT4 STAT3 COL5A2 LEMD3 IL23R TGM5 SDHC ERAP1 GNAQ CCR1 SLC17A9 AEBP1 KLRC4 COL5A1 HLA-DPB1 HLA-DPA1 PTPN22 FLCN CLEC7A TLR4 TRAF3IP2 SEC23B GLMN XYLT2 TMC6 ECM1 FAS HAVCR2 PRTN3 IL7 SDHD HP_SKIN_PLAQUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PLAQUE BTNL2 KRT17 CD28 KRT6B TRPM4 HLA-DRB1 TSC2 KRT6A GLMN TNFRSF1B TMC6 LORICRIN CIB1 KRT16 KDSR SDHD HAVCR2 KRT83 TSC1 IL7 CTLA4 TMC8 ADA2 HP_SKIN_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_NODULE MC1R PORCN COL7A1 PIK3CA DACT1 IL12A GPC1 NAGA ACVR1 KLLN FGFR1 NF2 LPL RAF1 PTEN IFNG PTH1R IDH1 OCRL MEFV IL12A-AS1 MLX PTPN11 MDM2 FUS MMP2 IL10 ATP2A2 IL12B ASAH1 APOE SLC37A4 GNAS IDH2 KIT STAT4 TSC1 TNFRSF11A CTNNB1 IARS2 MMP14 IL23R G6PC FERMT3 PDGFRB ERAP1 GJB2 GLA ENPP1 CCR1 CDK4 NOTCH3 TTPA KLRC4 AKT1 BTNL2 DDIT3 TSC2 HMGA2 SEC23B GLMN ECM1 ANTXR2 BCL6 CYP27A1 HLA-B CYLD KRAS BCL2 KIF11 MYSM1 LEMD3 FBN1 COL5A1 KIF1B APC SALL1 SDHB BRAF C4A COL1A1 UBAC2 LDLR USF3 APOA2 ABCC6 INSR PPP1R17 SDHC HLA-DRB1 TEK APOB COL5A2 TNFRSF11B FGFR2 GHR NRAS PDGFB TLR4 FAS COL3A1 SDHD EPHX2 HP_SKIN_VESICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_VESICLE PLEC STAT3 KRT14 KRT5 COL7A1 TERT NHP2 RTEL1 ATP2C1 DSC3 NOP10 PARN USB1 TINF2 CTC1 ATP2A2 DKC1 NPM1 TERC PKP1 WRAP53 HP_PUSTULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUSTULE SCNN1A ADAM17 CARD14 PSTPIP1 JAK3 LPIN2 IL17RA STING1 TMC6 ECM1 CTSB CIB1 SCNN1G CTSC SCNN1B IL36RN IL1RN IL7 SLC39A4 EGFR TMC8 HP_EPIDERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMOID_CYST CEP57 APC CDH1 KRT17 KRT6B KRT6A TSC2 ANTXR1 KRT16 TSC1 CTNND1 HP_SKIN_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_EROSION PLEC LAMB3 COL7A1 ITGB4 TGM5 DSP LMNA CSTA ZMPSTE24 COL2A1 JUP ATP2C1 LAMA3 ARL6IP6 LAMC2 NAXE HP_SKIN_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_ULCER BMS1 NOTCH2 DOCK8 CYBA TAP1 IRF5 LBR SPTB IL17F IL17RC ELANE WIPF1 SRP54 EPB42 NOP10 CAV1 HBB PTH1R NCF2 IDH1 DLL4 CTLA4 MLX PIGL IL12B NPM1 PKP1 WRAP53 WAS STAT3 HLA-DRB1 NOD2 RETREG1 NGF PDGFRB WNK1 ITGB4 KIF1A PROS1 PSTPIP1 NOTCH3 CCR6 GJB6 PTPN22 PGM3 LMNA MPV17 KRT1 TERC PRTN3 TAP2 CYBB CYBC1 TCIRG1 TERT CD28 KIF11 SPTLC2 GJB2 ANTXR2 AQP5 TRPV3 CCN2 WRN PARN IDH2 PLEC SLC4A1 HLA-B PEPD SPTA1 KIAA0319L MBTPS2 NTRK1 COL1A1 CCT5 IL17RA ITGB2 IKBKG NCF4 SLC39A4 SCN9A LYST NCF1 KRT10 PERP NHP2 TAPBP RTEL1 LAMA3 GNAQ AK2 BTK TREX1 COL3A1 HLA-DPB1 OCRL USB1 HLA-DPA1 PDGFB CLEC7A TINF2 CTC1 ANK1 TRAF3IP2 GBE1 TNFRSF1B DKC1 TP63 HAVCR2 GFI1 HP_VERRUCAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERRUCAE DOCK8 TMC6 PIK3CA KRT16 BLNK KRT1 CD79A CXCR4 LRRC8A FCN3 KRT9 DCLRE1C ECM1 STK4 IGHM CD79B CIB1 TCF3 IGLL1 PIK3R1 IKBKG IL7 CARMIL2 TMC8 HP_POROKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POROKERATOSIS MVK PMVK SLC17A9 MVD FDPS HP_CYANOTIC_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOTIC_EPISODE SCN9A GABRA1 SCN2A GABRG2 PSAT1 PCDH19 SCN1B STXBP1 SCN1A HP_SMALL_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_HAND PPM1D CUL4B TBCE NALCN SMARCD1 FMR1 LIG4 KIFBP AFF4 LAS1L TCF4 FGFR2 MAPK8IP3 LTBP3 SMC3 FBN1 UNC80 SNRPN PWAR1 SLCO2A1 NIPBL SMC1A TUBB3 GJA1 CENPE SLC6A17 CDKL5 CANT1 TRPV4 PCGF2 TELO2 CTNND2 NSUN2 NPAP1 MKRN3 GABBR2 HTT SPECC1L ORC1 POC1A XYLT1 DPH1 SETD5 DPM1 FGD1 HDAC8 SEMA5A SNORD116-1 COG1 SON COL11A1 WRN DVL1 KMT2D RMRP ROR2 RAD21 MCTP2 KCNJ2 MBD5 PWRN1 USP7 KMT2A HUWE1 NDN CDK10 PIGN FBXO11 COG4 USP9X DYNC1H1 EVC2 HDAC4 NGLY1 CCBE1 IGF1R MAGEL2 BPTF SIN3A HPGD EVC COL3A1 HERC2 WNT5A KDM6A SLC26A2 RECQL4 DVL3 SHROOM4 PUM1 SNORD115-1 WDR81 ADNP HP_MACULAR_SCAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_SCAR TNFRSF11B RPGR SH3BP2 CFI HLA-A HP_COLORECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLORECTAL_POLYPOSIS SDHB POLD1 AKT1 RNF43 PIK3CA SDHC MUTYH POLE KLLN BMPR1A SEC23B KEAP1 GREM1 DICER1 USF3 PTEN MSH3 SDHD AXIN2 HP_CHORIORETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DEGENERATION SLC25A15 PAX2 CRX EYS JAG1 TEAD1 GRHL2 OAT NRL CYP4V2 VSX1 ADAMTS18 NDE1 PRPH2 CRB1 CHM FSCN2 VCAN POU3F4 ZNF408 ACVRL1 GUCY2D DPP6 HADHA SAG ROM1 COL8A2 OVOL2 RP2 GUCA1A ZEB1 HP_RECURRENT_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SPONTANEOUS_ABORTION HTR1A SYCP3 ANXA5 F2 F13B SERPINC1 F13A1 F5 HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE CCDC114 CCDC151 CCDC65 ARMC4 HYDIN SPAG1 ZMYND10 LRRC6 DNAAF5 CFAP298 HP_LIMB_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_TREMOR CARS2 CIZ1 CACNA1G MPZ SLC12A6 TUBB4A COL6A3 PGAP1 ITPA PMP22 UBE3A ITPR1 ANO3 HP_ANTERIOR_OPEN_BITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_OPEN_BITE MMP20 AMELX BMP2 FAM83H ITGB6 GPR68 HP_ORAL_MUCOSAL_BLISTERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_MUCOSAL_BLISTERS PLEC KRT14 COL17A1 KRT5 LAMC2 ITGB4 LAMA3 JUP ITGA6 COL7A1 LAMB3 DSP HP_DECREASED_ABSENT_ANKLE_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ABSENT_ANKLE_REFLEXES MRE11 PDK3 ATP6AP2 C19orf12 OPA3 RAI1 TWNK ALDH18A1 POLG2 HARS1 MYOT SACS MFN2 ATXN3 ARL6IP1 HINT1 VCP KLHL9 GJB1 PLEKHG4 PGM3 DYSF GNE SLC25A4 RRM2B SQSTM1 POLG HP_SPARSE_OR_ABSENT_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_OR_ABSENT_EYELASHES APCDD1 RPL21 PHGDH LRP1 GTPBP2 TCOF1 NF1 ZMPSTE24 TWIST2 CDH3 LIPH ALX1 DSP MAP2K2 HR LMNA BRAF LPAR6 ANTXR1 RNU4ATAC PKP1 KREMEN1 SF3B4 EDA GJA1 GJB2 BANF1 ITGA3 DPH1 NHP2 KANK2 DKC1 TSR2 LSS SNRPE COL11A1 FRAS1 GJB6 POLR1C EDAR POLR1D EPS8L3 TMCO1 RIPK4 FIG4 NECTIN1 NECTIN4 WDR35 TP63 EDARADD RMRP DLX4 TRPS1 DSG4 EDNRA CST6 KRAS CLDN1 ANAPC1 SOX18 RECQL4 VAC14 KRT25 NOP10 MAP2K1 ALX4 CWC27 MPLKIP DOLK KRT74 DSC3 SPINK5 MBTPS2 EBP HOXC13 POLR3A B4GALT7 KRT85 HP_ABSENT_SHORTENED_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SHORTENED_DYNEIN_ARMS DNAL1 NME8 CCDC39 DNAAF1 CCDC114 CCDC151 CFAP300 DNAAF3 ZMYND10 LRRC6 DNAAF5 CFAP298 HP_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ALKALOSIS CLCNKB CACNA1D SLC26A3 NR3C1 SCNN1A SCNN1G KCNJ1 IKZF1 HLA-B SCNN1B HSD11B2 SLC12A1 CLCNKA BSND SLC12A3 NARS2 KCNJ10 KCNJ5 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 RAG1 DCLRE1C ZAP70 RAG2 SCNN1A SCNN1G SCNN1B UNG USP9X GLI3 HP_CHRONIC_ACTIVE_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ACTIVE_HEPATITIS C4B ALMS1 KRT18 KRT8 AIRE HP_CHRONIC_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS RFXAP RFXANK C4B ALMS1 KRT18 CIITA IL21R RFX5 KRT8 AIRE CD40LG HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION RFXAP RFXANK CIITA IL21R RFX5 HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS MT-ATP6 SLC3A1 PNPT1 MT-CO1 MT-CO3 MT-ND4L MT-ND5 PREPL PPM1B TRMU FBXL4 NDUFS2 MT-ND6 MT-CYB MT-ND1 MT-ND2 CAMKMT MT-ND4 HP_BIVENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIVENTRICULAR_HYPERTROPHY ATP6V1E1 TALDO1 CACNA1D PRKAG2 TNNC1 HP_EPILEPTIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_ENCEPHALOPATHY KMT2E TBC1D24 DNM1 CHD2 SCN2A SYNJ1 NTRK2 ATP6V1A KCNQ2 CLCN4 RNF13 SCN8A GABRA1 GABRB2 SLC6A1 NUS1 SPTAN1 SLC25A22 PARS2 ARHGEF9 GABRB3 GABRG2 DPM2 ROGDI GRIN1 CACNA2D2 ARV1 ADAM22 CPLX1 CACNA1E BOLA3 KCNQ5 SLC1A2 NRXN1 KCNT1 NEUROD2 STXBP1 CDKL5 MEF2C GUF1 DHDDS HNRNPU PPP3CA CNPY3 GNAO1 PACS2 AP3B2 SCN1A CARS2 CAD EEF1A2 SIK1 TWNK GLS DNM1L KCNB1 ARX GABRB1 PLCB1 HCN1 DENND5A PIGP ALG9 CACNA1A MDH2 NECAP1 SYNGAP1 CUX2 CNTNAP2 KCNT2 WWOX CACNA1B COQ4 UGDH AP2M1 PIGA FCSK FRRS1L GRIN2B PMPCB ST3GAL3 SZT2 SLC13A5 SLC35A2 KCNA2 DOCK7 SCN1B PNPO SLC25A12 SCN3A PNKP CYFIP2 AARS1 GRIN2D STAG1 GABBR2 FGF12 PHACTR1 HP_ORAL_PHARYNGEAL_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_PHARYNGEAL_DYSPHAGIA NECTIN1 YY1 TAF1 NGLY1 ASPA ASAH1 CTNS DMPK C12orf65 TP63 CNTNAP1 DLX4 GRHL3 UBB RAI1 TANGO2 ADNP ADCY6 BMP4 FLCN EXOSC9 CDH1 MSX1 DLG1 IRF6 ARHGAP29 HP_NEURONAL_LOSS_IN_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_BASAL_GANGLIA SURF1 NDUFAF3 NDUFB8 VRK1 MAPT SCO2 HTT NDUFS2 HP_AGENESIS_OF_LATERAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_LATERAL_INCISOR DLX4 BLM NECTIN1 NAA10 BCOR BMP4 CDH1 MSX1 DLG1 IRF6 B3GLCT TP63 EDA ARHGAP29 HP_AGENESIS_OF_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_MAXILLARY_INCISOR BLM RIPK4 NAA10 BCOR B3GLCT HP_MENOMETRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENOMETRORRHAGIA ITGB3 FGA FGB FGG ITGA2B GNAS ARMC5 HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM LIFR KCNE2 FANCE PIGY VPS11 DHCR7 DNAJC13 TMEM231 SLC6A8 TTR EDN3 TMEM237 SCN11A ELP1 KRAS FMR1 PSAP GBA ATXN3 FANCL ADH1C KIFBP DDX59 RFWD3 SIM1 TCF4 MITF SNAI2 ARL6 POLR3A KIT CCDC28B BRIP1 VPS13C TBP PHOX2B SYNJ1 ATRX ATXN8OS UCHL1 TMEM138 TUBB3 SALL4 CACNA1C CYP11B2 CAV1 DBH GDNF SNCA NPHP1 CSPP1 NR4A2 MBTPS2 RREB1 ECE1 EDNRB B9D1 FANCF EXOC6B MYO1H NOS1AP PODXL GIGYF2 WDR45 CALM1 PRNP GABBR2 MKKS RET CYB561 COQ2 B3GALT6 SETBP1 BDNF FANCG INPP5E LRRK2 SCN10A BCOR B2M SOX10 TCTN2 GBE1 SLX4 GJB2 KIAA0556 KIF1B RAD21 FANCI PIGN FANCD2 ARVCF ARL3 AKAP9 SCN9A FANCA SNTA1 GLA CCT5 TCTN1 FOXF1 PARK7 HTRA2 ARSA ASCL1 CEP120 XRCC2 GJB6 CISD2 VPS35 SLC18A2 TSPYL1 TNPO3 SEMA3D MKS1 PIGO UBE2T CHCHD2 AHI1 ARL13B TMEM216 ANK2 GP1BB CEP104 SCN5A UFD1 ARX FANCB KIAA0586 ZNF423 PIGV RAD51 MAPT TWNK SEPTIN9 SPIB PINK1 FANCM DYSF ERCC4 KITLG GATA1 CAV3 CEP41 SNCAIP CC2D2A ATXN2 KCNJ5 PAX3 EP300 SCN3A ARMC9 BRAT1 COMT ACTG2 SH2B1 SF3B4 JMJD1C KCNH2 L1CAM POU2AF1 AAAS HIRA LEP PIGL KCNQ1 RAD51C BRCA2 GCK HEXB KCNE1 WFS1 CEP290 NAA10 TRDN CREBBP TMEM67 RPGRIP1L TBX1 BRCA1 ATP7A IL12A PRKN ZEB2 GSN MECP2 RMRP LEPR LMNB1 BBS1 MAD2L2 FANCC FBXO7 IL12RB1 PIGW SEMA3C NTRK1 SCN4B MMEL1 PIBF1 NRTN GMPPA IRF5 SEC24C EIF4G1 CPLANE1 TXN2 CALM2 TNFSF15 PGAP3 HYLS1 PALB2 PGAP2 SLC6A2 GLUD2 DNAJC6 HP_RECURRENT_EAR_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_EAR_INFECTIONS DDOST SP110 IDUA ELANE TCIRG1 PIK3CD SRP54 LEP GFI1 UBE2A HP_EPIGASTRIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIGASTRIC_PAIN CFH MET CD46 HELLPAR CFI CTNNB1 HP_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_LIP PROKR2 CTBP1 GLI3 MSX1 CHD7 PHGDH POMT1 STAG2 NSMF FGF20 DDX59 IFT80 FKRP GPC3 CDH1 GRHL3 SIX3 TFAP2A SMG9 PORCN CPLANE1 AMER1 IRF6 B3GLCT RAI1 SLC29A3 YAP1 FGFRL1 FZD2 COLEC10 TGIF1 GLI2 PROP1 SF3B4 WDR35 COLEC11 ARHGAP31 FKTN NSDHL PTCH1 TXNL4A KANSL1 INTS1 ZSWIM6 FRAS1 SEMA3E NECTIN1 GJA1 SHH POLR1D HYLS1 TCTN2 TMCO1 PHF8 RIPK4 ACTB RSPO2 TP63 FGD1 CHST14 CEP120 IL1RN DLX4 BCOR NIPBL ESCO2 ASXL1 FGFR1 NEK1 GPC4 IFT57 WDR60 FREM2 LETM1 DHODH NUP107 RPGRIP1L PIGN GREB1L LARGE1 LMX1B FOXC2 RERE KLHL7 KIF7 MASP1 DSE SMCHD1 KRAS IQSEC2 DVL3 SLC2A10 IL1B WNT4 OFD1 CDON C2CD3 TBX2 VAX1 POMT2 SMOC1 MEOX1 SMO RIC1 CTNND1 SPECC1L FLNB UBB MID1 PAX3 EPG5 NSD2 DVL1 DEAF1 ALX3 FAM20C SMAD4 RPL5 HESX1 PIGV CYP26C1 TCOF1 NELFA CPLX1 JUP NAA10 GRIP1 POLR1C TRRAP TRAPPC9 FOXA2 WDR34 MSX2 ALX4 FLII HOXD13 WNT3 MKS1 WNT5A TGDS DYNC2H1 LHX4 TCTN3 BMP4 SUMO1 PTCH2 MED12 CC2D2A FGF8 EFNB1 ITGA8 CILK1 DDX3X INTU OTX2 NBN EIF2S3 KIAA0556 TAPT1 EVC EVC2 RET RPS19 MEIS2 SUFU POU1F1 HP_ABNORMAL_T_CELL_ACTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_ACTIVATION MAGT1 EPG5 CASP8 LEP LEPR CD40LG HP_ABNORMAL_LIVER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_MORPHOLOGY PLIN1 BCS1L GDF2 SDCCAG8 TCIRG1 MICOS13 RAG1 INSR IFT172 TSC2 C15orf41 IL17F BLNK KCNAB2 FAN1 PHKA2 ARHGAP31 SGSH TSFM KCNN4 RNASEH2C GPC3 RRAS2 OSTM1 CASP10 CC2D2A PDGFRA MOGS SFTPC ASAH1 NDUFAF1 BOLA3 GPR35 LIPE RAG2 TYMP TTC37 KCNH1 LTBP3 RNASEH2A PEX1 WDR35 PIEZO1 TTC7A FAH NDUFS3 AUH IL6 POLG2 ALDH7A1 SRD5A3 TRIM32 AXIN1 TCF4 ALG8 RUNX1 SERPINA1 SLC7A7 GBA ICOS CFI ALAS2 MYBPC3 SLC35A2 SLC37A4 MRPS16 RPGRIP1 DLD BSCL2 IFT43 MT-TW MRAS CIDEC PCCA PALB2 PEX10 DHFR OCLN GLB1 ACADVL COX8A BBS4 TREX1 STX11 AGA ABCG8 TBX19 DAXX HGSNAT CEP290 LIPA MARS1 LRP5 SLC25A20 PSMB8 CLCN7 MST1 PEX12 TRAPPC11 NCF4 NDUFS6 ARSB LYST TPP2 NBAS UROD F5 TMEM67 ITCH OFD1 B2M PDGFRB HYMAI UNC13D SRP54 AGPAT2 TNNI3 TINF2 RHAG HSD17B4 DCLRE1C HSD3B7 NPHP1 ACAT1 PMM2 MT-ND5 COG8 NDUFS8 NDUFAF3 TMEM126B HNRNPA2B1 NPC1 GPIHBP1 DPM3 RFXANK LPIN2 CD3D GPC1 SNX10 LDLR JAK2 ERCC6 COX6B1 TMEM199 CPT1A GPC4 HNF1A HBB GANAB PKHD1 XRCC4 KRT8 TET2 COX14 ATP7B HFE SUMF1 DGUOK CD3E ALG13 EXTL3 NCF1 PIK3CA COG6 DCDC2 WDPCP SLC4A1 HLA-DRB1 RMRP GLIS3 PEX26 PLEKHM1 LBR RAB27A TRMT5 NDUFS2 SMAD4 CALR NDUFV1 CFH PEX5 TFAM NEU1 NOTCH1 DMPK DKC1 BRCA1 ADAR UQCRC2 STEAP3 PCK1 PEX19 IFIH1 DOLK MRPL3 CTSA PKD1 WDR34 ACADM IGLL1 SOS1 LCAT STX1A HMGCS2 TERT MT-CYB FBP1 C8orf37 BRCA2 IL2RB PEX2 SLC22A5 TP53 HMGCL IQCB1 WDR19 FOXP3 IL12RB1 MT-TL1 PRKCD TALDO1 RAF1 TANGO2 DYNC2H1 ABCA1 BTK MT-ND3 PEX13 C1S NEK1 TERC NDUFB3 MT-ND6 CDKN1C FGA RIT1 PYGL CR2 IL2RA ACAD9 MKS1 CAVIN1 KCNQ1 NFKB2 CLDN1 PEPD MMUT CTC1 IFT122 KRT6A NSMCE2 NDUFS7 HAVCR2 HBA2 RNU4ATAC AMACR IL17RC PSAP SC5D DMD EIF2AK3 RECQL4 NGLY1 PEX16 NPHP3 PIGM A2ML1 POLG TACO1 LYRM4 CASR ALMS1 ATRX GUSB CCDC28B SLCO2A1 CPT2 APOE SDHD GCDH PRDM16 BBS5 C4B NEUROG3 SEC63 HYOU1 NHP2 TNFRSF11A PRKCSH ATPAF2 COG4 ALDOB DDRGK1 CD40LG IFT140 MT-ND1 HNF1B COX10 C1QBP AKR1D1 SMPD1 RFT1 PEX3 PC NAGA TMEM216 BTNL2 TRIM37 SLC25A1 USP18 FBN1 NDUFS1 TNFRSF13C PDGFB ALG9 LIG4 GALNS NAGLU COA8 LMNA MAN2B1 CTSC KCNJ11 TARS2 WDR60 KRAS FLT1 SLC30A10 SP110 GPD1 ACADL NHLRC2 TRMU HADHA HNF4A FAS TMEM165 PTPRC ADA ABCB4 COG2 CYP7B1 ABCD3 UQCRB PCSK9 NDUFS4 CTLA4 ASXL1 DYNC2LI1 ATP7A EARS2 ASS1 MPL CTNNB1 TGFB1 CLPB EFL1 BBS12 SBDS MVK GALT NPHP4 SFTPA2 JAG1 PEX11B PSMB9 SLC17A5 IDUA NFKB1 IFT27 INPP5E STAT1 HADHB XIAP GNPTAB MS4A1 TTC21B ATM NDUFA6 MIF AIRE BBS7 MPV17 MEFV STXBP2 CBS AKT2 RFX5 CEP164 HMOX1 ACSF3 DIS3L2 DNAJC19 SH2D1A ABCB11 ALG1 NDUFA1 CHD7 SLC25A15 BBS1 NDUFA11 CD96 IL12A TNFRSF13B CD28 MPC1 RPGRIP1L JAM3 IL7R LZTR1 IL2RG PHKG2 DDOST MT-ND4 CNTNAP2 PARN EOGT TSC1 SPTA1 KRT18 VCP HELLPAR MT-TK FASLG GABRD ADK SLC20A2 PEX6 NDUFB9 CSPP1 ITK KIF20A MT-TV MPI CD27 DPAGT1 SLC25A19 CD46 TNFSF12 RRAS PLPBP LACC1 PDGFRL GALE TNFSF15 APC PNPLA2 NOS3 NUBPL SNX14 CCDC47 CPOX EPB42 CD79A SURF1 LYZ MT-ND2 COG7 ARL6 APOA1 CTSK DPM2 ERBB3 PCCB CEP55 TJP2 GBE1 RRM2B CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 MYRF MRPL44 HAMP KLF1 PHKB CLCA4 SAA1 HADH CP ALG2 NDUFV2 TNNT2 HBG2 ERCC8 ACVRL1 TNFSF11 ATP8B1 PALLD HLA-B CDKN2A FADD GCLC NLRP3 NDUFB11 CYBC1 VPS33A CA2 MYD88 DOCK6 AGL GYS2 DZIP1L TIMMDC1 NDUFAF8 NDUFB10 IL21R TMEM70 ASL PLAGL1 CYP7A1 CORIN SLC40A1 AP3D1 AGGF1 LARS1 DLL4 KIAA0586 INVS COG1 B9D1 FOXRED1 LRPPRC INPPL1 SKI RBPJ VPS33B XPR1 HBG1 ABHD5 NDUFAF4 FOS NR1H4 RNASEH2B IGF2 TRAF3IP1 PPARG RFXAP DHDDS MET GLRX5 VPS45 ANK1 SOS2 SLC2A1 NAGS PEX14 MYH9 CAV1 SPIB PRF1 MMAA KRT16 NCF2 BBS10 MCCC1 STN1 ERCC4 ACOX1 PCK2 BBS9 SDHA NLRP1 BBS2 XK FUCA1 SKIV2L COA3 G6PC FERMT3 GNAS LZTFL1 SCYL1 PKD2 UCP2 DNAJB11 SLC25A13 JAK3 MYPN IDS CCDC115 DPM1 CYBB TCTN2 GAA FECH ETFDH CARS2 BMP2 ELN GNMT HJV PNPLA6 MKKS AHCY NDUFAF2 COX15 KCNQ1OT1 LMNB2 PIK3C2A POLR3A IL17RA SF3B1 MMEL1 PSMB4 CIITA ALG6 PIGS STOX1 COX20 IRF5 MFN2 IARS1 CTNS TMEM107 SAR1B FGFR2 TRMT10C XYLT1 SLC25A4 FLNC TNFRSF1B TTC8 CYBA CBL SCO1 NDUFAF5 HNRNPA1 SPTB PGM1 G6PC3 NOP10 IFT80 MT-TE IGF2R ALG11 CD19 SLC39A4 LHX1 IGHM PET100 GNE SLC29A3 SCARB2 GNS APOB TUFM DCTN4 CYC1 SAMHD1 CFTR NRAS MYORG CYP19A1 RHBDF2 HBA1 MCM4 FARSB NPC2 RERE NRXN1 PTRH2 MLXIPL MT-ATP6 SLC13A5 ABCC8 IKZF1 PIGA ABCC2 APOC2 TFR2 KRIT1 RTEL1 EWSR1 ATP6AP1 ETFA TNPO3 MT-TN NEK8 LRRC8A IER3IP1 SHPK ADAMTSL2 MRPS7 TRAF3IP2 RMND1 FAM111B NOTCH2 TWNK BICC1 ETFB ENG YARS2 RBCK1 CD247 LIPT1 BMPER KIF23 ANKS6 MMAB KCNN3 RASA2 DNASE1L3 B9D2 IFNGR1 RASGRP1 ANTXR1 COG5 NPM1 LDLRAP1 POU2AF1 DNAJC21 COX4I2 SOX10 MUC5B VPS13A WT1 TKFC HEXB VIPAS39 ABCG5 CD79B GATA2 LPL KRT17 SRSF2 PTPN11 FBXL4 GFM1 GUCY2D POLD1 RBM8A CEP19 AP1S1 CD70 TCF3 TNFRSF1A PIK3R1 IL1RN AP1B1 BBIP1 TMEM231 HPGD CD55 CASP8 TKT USB1 ZMPSTE24 KRT6B PTEN CLEC7A BTD KPTN JAM2 AP3B1 FDX2 HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY CCL2 BMS1 RIPPLY2 FANCE PORCN GLI3 LIMK1 FANCM PHGDH RFC2 ERCC4 MASP1 FLNB HAAO SMARCC2 NOTCH3 SC5D FANCL RAF1 LIG4 ARID1B WNT7A ZIC1 RECQL4 GTF2I RFWD3 INPP5E KIF22 CCNQ GDF6 PAX3 EP300 SMARCD1 MTR HES7 DLL4 POLA1 LFNG OFD1 ELN VANGL1 B3GALNT2 IRF6 PTPN11 BRIP1 CUL7 CLIP2 COMT AMER1 DACT1 SALL4 JMJD1C COLEC10 IGF2 MAFB TBX6 ITGB4 LARGE1 PIK3CA FLNA PTCH1 SOX11 HIRA TRIM36 RAD51C PUF60 BRCA2 RREB1 GDF3 COL5A1 FRAS1 VANGL2 FANCF NSUN2 BMP2 CREBBP GRIP1 MESP2 TBX1 TBC1D24 MSX2 DLL3 BRCA1 CDH1 SETBP1 ALX4 FKTN BMPER SOX4 FANCG KCNH1 MTHFD1 MAD2L2 SLX4 FLI1 FANCC NF1 COL1A1 POMGNT1 CHRNG SMARCB1 TBL2 FREM2 FANCB H19 RMRP ARID1A PLEC SNRPB FANCI BRAF RBM8A MYH3 NEK9 SMARCE1 FANCD2 ARVCF MEOX1 PTCH2 KIAA0586 FANCA LMX1B IKBKG POMT1 MTHFR KCNQ1OT1 TBXT COL5A2 CSPP1 CEP290 RAB23 FKRP CHN1 ARID2 BAZ1B NOTCH2NLC RUNX2 FIBP XRCC2 SEC24C CCBE1 SMARCA4 TNXB FUZ SLC25A19 B3GLCT ZSWIM6 PSAT1 UBE2T POMT2 GMPPB GP1BB COLEC11 GTF2IRD1 ACTB UFD1 PALB2 TMEM216 SUFU DPF2 MTRR RAD51 HP_DECREASED_LEVEL_OF_GABA_IN_SERUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LEVEL_OF_GABA_IN_SERUM APP A2M HFE PLAU NOS3 MPO HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE PCCB PCCA HMGCL BCKDHA BCKDHB DBT PAH HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE TP53 FGFR2 SMAD4 MUTYH STK11 IRF1 KRAS KRT18 PIK3CA CASP10 KRT8 ERBB2 KLF6 APC HP_PHYSICAL_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHYSICAL_URTICARIA IRF5 MMEL1 SPIB POU2AF1 TNFSF15 SERPING1 IL12A TNPO3 IL12RB1 HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS TGFBR1 SMAD3 TGFB3 TGFB2 TGFBR2 HP_HIPPOCAMPAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIPPOCAMPAL_ATROPHY ABCA7 CAMTA1 CPA6 NEK1 RNU4ATAC HP_ABNORMAL_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGA_LEVEL MTOR BLM IL7R CR2 SPIB BSCL2 CD3D IL2RG MVK CD247 IL12RB1 FASLG AICDA WAS CASP10 CSNK2A1 CD19 TNFRSF13B PIGT CD3E CAV1 FAS CD40 NLRP1 RAG2 RASGRP1 MMEL1 RNF168 RAG1 ATM PLCG2 TCN2 IRF5 IL2RA POU2AF1 UNG CAVIN1 FOS LRBA TNFRSF13C DNMT3B TNPO3 CD40LG CCND1 JAK3 AGPAT2 TNFSF15 PGM3 PRKCD PMM2 DCLRE1C PPARG CTLA4 ADA ICOS IL12A HP_ABNORMAL_CIRCULATING_IGE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGE_LEVEL STAT3 CDSN IL7R DOCK8 CARD9 PLA2G7 TYK2 GPC4 ADA IL4R FOXP3 FAS SPINK5 FASLG CD40LG WAS GPC3 KRT9 MS4A2 KRT1 CASP10 PGM3 EXTL3 PRKCD CD40 IL6ST RASGRP1 HP_ABNORMAL_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGG_LEVEL VPS33A EPG5 BLM IL7R CR2 CD3D CTPS1 IL2RG RASGRP1 CD247 TONSL TNFRSF13C FASLG AICDA CASP10 CSNK2A1 CD19 PIK3CD CD3E EXTL3 FAS CD40 B2M IFNGR1 RAG2 SPINK5 RNF168 RAG1 ATM ITK TCN2 XIAP UNG CD40LG CXCR4 CCND1 SH2D1A ERCC2 JAK3 PGM3 PRKCD CNBP PMM2 SON DCLRE1C CTLA4 ADA ICOS SP110 TNFRSF13B HP_ABNORMAL_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGM_LEVEL VPS33A BLM CR2 SPIB MYD88 IL12RB1 FASLG WAS CASP10 CD19 PIK3CD LAMTOR2 PIGT EXTL3 FAS CD40 IFNGR1 RAG2 RASGRP1 MMEL1 GPR35 MST1 RNF168 RAG1 PLCG2 TCN2 IRF5 XIAP POU2AF1 UNG LRBA TNFRSF13C DNMT3B TNPO3 CD40LG SH2D1A KLHDC8B JAK3 CARD11 TNFSF15 PRKCD TCF4 CNBP CTLA4 ADA ICOS IL12A TNFRSF13B HP_BRAIN_IMAGING_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_IMAGING_ABNORMALITY VPS33A CACNA1G C9orf72 MT-ND6 COQ2 BAP1 SLC6A8 CHD2 ATN1 TERT SMO NDUFB8 ASPA MAPT VCP KCNJ11 GRN MT-CO3 FOXP1 SLC6A1 POLR3A MT-TF ABCC8 TMEM106B AP2M1 SURF1 DEAF1 PSEN1 USP7 MT-CO2 NDUFAF3 RAI1 TREM2 CDC42 PDGFB MT-TS2 GAMT PIK3CA PSAP NGLY1 CHMP2B GALC MT-ND1 MT-ND4 APOE ERLIN2 SMARCE1 C12orf65 TBCK PSEN2 TRAF7 SMARCB1 MT-CO1 SQSTM1 SUFU WDR26 GATM MT-TW MT-TQ ACAT1 MT-ND5 AKT1 MT-TL1 COG8 TBL1XR1 MT-TH NF2 SCO2 NDUFS2 PHACTR1 RERE SLC35A2 HP_PEDIATRIC_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDIATRIC_ONSET NLGN4X S1PR2 HEPACAM SLC6A8 GLRA1 POMK SUCLA2 CPT2 EIF2B4 PMP22 RPS28 CHRNA4 NARS2 IKBKB PLEKHG5 SURF1 KRT81 AMMECR1 OCRL POLG NEFL SPTBN2 TACSTD2 SPTAN1 TPP1 GCH1 NDUFV1 NEB CD59 GABRB3 CC2D2A PNPLA8 PINK1 TRPV4 ADAM22 CPLX1 NLGN3 NDUFAF1 NDUFV2 ADSL BOLA3 EGR2 MTFMT SLC2A1 TSC1 TH MRPL44 CHRND LIMS2 PDP1 MPZ NGF TMPRSS3 RNASEH2A ADD3 CDKL5 CLCN1 ALG11 UMOD ADGRV1 DHPS CHRNA1 TPM2 GFPT1 NDUFAF8 TSHR HAX1 IREB2 PHKG2 SRD5A3 EEF1A2 WARS1 TNNT1 HSD17B10 KCNB1 MPV17 COL6A2 HNMT SLC7A7 AGK DYNC1I2 DLG4 PNPLA6 HIBCH CLIC5 TMTC3 MMP2 L2HGDH VPS33A ILDR1 LMNB2 EDC3 MYMK GALNT3 CLDN16 DNAAF4 LACC1 CUX2 GJC2 GLB1 COL6A3 YWHAG SEPSECS GNAS SFTPB AP3D1 PSAT1 GUCY2D BCS1L RERE UQCC2 F13A1 DMD PLP1 SELENON GLA APTX NPHS2 DYNC1H1 LRPPRC HABP2 RAG2 VARS1 GEMIN4 WDR45B RDX TBR1 CHD3 NDUFB9 TBC1D24 WT1 EXT2 MFSD8 DHX30 SLC18A2 PTPRQ IGHM CXCR4 TREX1 ZAP70 ZSWIM6 ACTL6B LMAN2L FAM126A CFB COLQ JPH1 QDPR HSD17B4 VPS45 ATP8B1 SOST DDC CTC1 SGCB NDUFS2 CAV1 ATP2B3 SPG11 GTPBP2 MMAA MTR TK2 METTL23 MACF1 LMBRD1 CORO1A GPHN PCDH15 C12orf57 AIFM1 CHST6 ALG13 LMNA TSC2 FRMPD4 GABRG2 ITPA CC2D1A NCF1 SDHA CACNA2D2 TXN2 KCNMA1 FKTN EMD CACNB4 SIL1 CHRNE SYNE1 CFH DCDC2 CFI FERMT3 WNK1 SUCLG1 VDR F2 NLRP3 CRB1 MED13L EPO CTNS PCK1 RETREG1 TNFRSF4 PLA2G6 MLC1 NKX6-2 SASH1 DIAPH1 TMEM94 SLC12A5 BRF1 PLG NDRG1 COL6A1 ASH1L CD3E NFKBIA RPL35A SCN4A SLC19A3 RPS29 TIMM8A MAST1 CCDC115 DPM1 ITPR1 VPS53 SLC35A1 PCDH19 SDHD PTS TGM3 NAGA TCTN2 ATP7A ACOX2 SMPD1 SPART MFF NDUFS1 PRKCD NDUFA10 PRDX1 EIF2B1 NTRK1 TGFB1 KIDINS220 CCT5 FZD4 COQ6 SBF2 SLC52A3 HPCA DAG1 HUWE1 RPS26 POMC BRAT1 PIGT PSAP RAB27A FRMD7 TMEM67 LCK DDX3X TRPM6 CD3D TRPA1 CAVIN1 LAMA3 NGLY1 SPECC1L KCNA2 HIVEP2 MAGEL2 KRT83 COG2 MTHFR ROR1 PDHA1 ARFGEF2 UFSP2 KDM5B MTRR GATA1 SLC25A12 GATM GP6 MMADHC ADAR DLAT POMT1 TUBB6 SLC33A1 CLCN7 ABCB7 TRIT1 GJB3 UVSSA NLRP12 DEAF1 PAX2 ACO2 XPC KMT2E SNAP29 ADCY5 KLHL7 TRMT1 EIF2B3 PTCHD1 GRM1 SLC46A1 TTN PIK3R1 EIF2AK3 RPSA SLURP1 TBX19 SGCA PGAP3 SLC39A4 SMPX ARV1 CD79B PLEKHG2 ISCA1 IGLL1 VAMP2 SCNN1B RASGRP2 NEUROD2 CYP2R1 RFT1 DNAAF5 PANK2 RAG1 CBLIF TPM3 ELANE HNRNPU NFE2L2 ATPAF2 TUFM CTDP1 SCNN1A SCN1A AUH IFT140 ABCB11 CAD SYNE2 AKT1 GRIN1 SNX14 DCX CYB5A SGCE DNM2 DOCK8 TNPO3 GABRB1 P4HTM BCORL1 VARS2 VAMP1 FMN2 MFN2 ACOX1 IL21 PRKDC PIGP CTNNB1 MYO5A AIMP2 FARSB TRAC LRP5 GALNS KCNH1 GLRB MARCHF6 RYR1 STAT3 GPAA1 TNNI3 NAGLU RUSC2 GPD1 MECP2 PAK1 MMACHC ACP5 KCNQ2 SCN9A SPR GAN SDHAF1 DDHD1 MYH7 HCFC1 PRMT7 COX10 GAD1 YME1L1 ABCB4 ADAT3 PLCG2 PLCE1 HEXA RORC IMPDH1 TCF3 ABCD3 WAC EIF2B5 NDUFS4 DOCK7 KRT86 ISCU EIF2B2 TRAPPC2L EARS2 ERCC4 CWF19L1 TLK2 MRPS7 PRPS1 GRIN2D NDUFB8 MIPEP KATNB1 CD247 ADNP GRIK2 AASS JAG1 CEP104 SCN2A SYT1 FGD4 SAR1B LIPT1 PSPH FLNA CASP10 NUP214 COL9A1 SLC10A2 EXT1 ALDH5A1 GATAD2B OPHN1 WDR26 PMPCA GFAP SPEG ACADSB DDOST PNKD AIRE PCDH12 GFI1B ALAS2 TRIOBP CHD1 BCL10 COX4I2 CLPX KIF1A GNB1 ERCC6 TTI2 DOK7 ERCC8 ASAH1 ATAD3A ALS2 AAAS COX15 HYDIN MEFV PUS3 FRG1 HERC2 HNF1A SLC6A5 PYGM CYBA PRNP DARS1 TRAPPC9 GJB2 EBF3 ITGA7 SH3BP2 TBCE RPGRIP1L RANBP2 HIKESHI SLC12A3 TIMMDC1 NCF2 GDAP1 SACS NKX2-1 LITAF CUBN PPP2CA KCNT2 ASXL2 NR3C2 LARGE1 KITLG ATP6AP2 CA12 CARD11 MYH9 PHIP SNRPN TUBGCP2 ADK GJA1 FOXRED1 AFG3L2 CYBB ITK LCA5 NDUFA13 PRX UPB1 KCNA1 FXN SLC35A2 LDHA SLC25A38 SLC25A26 GRID2 PDE10A KCNJ10 SCNN1G MUSK ZNF142 TMX2 MTOR SARS2 BLNK FLVCR1 SCN3A SLC6A3 MCOLN1 RNASET2 COL9A2 MRPS2 RPS19 SLC34A3 FECH POMT2 WDR73 AP1S2 WDR81 PARN HP_ABNORMAL_CARDIAC_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_TEST ALG10B TANGO2 KCNE2 SLMAP KCNJ2 KCNE1 TWNK DYSF PSMD12 KCNJ5 KCNE3 CAV3 FBN1 KCNQ1 SCN5A SCN1B CACNA1S GPC3 HCN4 CACNB2 SCN10A SCN3B KCNH2 KCNE5 CLCNKB LMNA CDC73 RRM2B CACNA1C NKX2-5 HADH DBH ALPK3 KCNA5 TMEM43 DMPK DMD TNNC1 BPTF TTN TECRL DNAJC19 TNNI3K SRY NOS1AP TRDN MYL2 CALM1 POLG GYG1 CYP17A1 SCN2B GMPPB TRPM4 SLC12A3 GAA BSCL2 MT-CYB AKAP9 GNAS SCN4B RANGRF CACNA2D1 CALM3 STX16 GPC4 SNTA1 ABCC9 ACADVL GPD1L PRKAG2 ACADL CAV1 KCND3 CALM2 LAMA2 BRF1 SCNN1A GTPBP3 KCNJ18 POLG2 MYL3 FXN CAVIN1 SEMA3A FOS MECP2 JUP ANK2 PPCS DCAF17 PHOX2B ZMPSTE24 CYP11B1 AGPAT2 PKP2 SLC25A4 PPARG KCNJ8 GABRA3 HP_PERIPAPILLARY_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPAPILLARY_ATROPHY COL18A1 POMGNT1 SCAPER MMP19 COL4A1 ZNF408 TUB HP_FOOD_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_ALLERGY IL6ST RBM8A CNTNAP2 SPINK5 NRXN1 HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL PHOX2B GDNF RYR1 CACNA1S ASCL1 EDN3 RET HP_ABNORMAL_BLOOD_OXYGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_OXYGEN_LEVEL GATA6 GDNF HBB SLC35A1 ASCL1 ZFPM2 EDN3 RET PHOX2B CSF2RA FBN1 FGFR3 CSF2RB HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY EDN1 GNAI3 KCNJ2 NFIX PLCB4 HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR EDN1 ZBTB20 FGFR2 FGFR3 TWIST1 TCTN3 PLCB4 GNAI3 MGP HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL MT-ND6 TMEM231 LIMK1 RFC2 ELN LDLR NEK1 SELENOI MT-ND1 SMPD1 MLXIPL GTF2I COL4A1 TBL2 NOTCH3 ABCG8 POLR3A MT-ND5 ARVCF MT-CYB IGFBP7 BEST1 LMNA NEU1 TBX1 CLIP2 ASAH1 COMT ANTXR1 MT-ATP6 CTSA LDLRAP1 TULP1 GLB1 JMJD1C PRPF3 CYP1B1 HEXA NDP BAZ1B FZD4 MT-ND4 PCSK9 PSAP GALC SEC24C APOB NDE1 HIRA MT-ND2 RREB1 MYOC HEXB ZMPSTE24 GM2A PTDSS1 ABCG5 GP1BB GTF2IRD1 MT-CO3 UFD1 MT-ND4L LRP5 HP_ABNORMALITY_OF_ODONTOID_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ODONTOID_TISSUE PLEC LIFR CCDC8 DHCR7 ELMO2 LIMK1 MPLKIP IL17F IL17RC WDR35 CEP152 NF1 PTEN DDX59 LAMA3 ELN COX7B SLC10A7 ATR TTC7A PORCN COL1A1 GTF2H5 KRT14 SLC13A5 TSC1 IFT122 GJA1 HCCS RUNX2 PPIB ITGB4 ITGA6 RHOA LAMC2 RREB1 MYO7A ALDH3A2 MMP20 USH2A LONP1 PEX6 COG6 USH1C POLR1D CYP27B1 WHRN GTF2E2 RNF113A GNAS FGFR3 TP63 TBCE GALNS GALNT3 AMBN PDZD7 TRIP11 CLDN1 GLB1 FAM20C KCNJ2 ARVCF KRT5 TMEM165 MBTPS2 AMELX APC IKBKG CNNM4 ACP4 COL17A1 PTDSS1 OBSL1 LAMB3 COL1A2 ENAM PCNT ORAI1 BAZ1B SEC24D ROGDI DLX3 OFD1 FAM20A OCRL SMOC2 FGFR2 CDH23 PCDH15 FGF10 GP1BB USH1G ADGRV1 TRAF3IP2 GTF2IRD1 UFD1 ITGB6 CENPE DSPP WDR72 PHEX RFC2 GTF2I WDR19 IFT52 LRP4 LTBP3 EP300 HRAS ERCC4 STIM1 PDE4D ATRIP CLIP2 COMT GRHL2 AIRE JMJD1C FAM83H ERCC3 TCOF1 SLC29A3 VDR IFT43 CENPJ FGF3 HIRA AKT1 NECTIN1 COL7A1 CREBBP POLR1C MMP1 ERCC2 DNAJC21 TBX1 FKBP10 SLC24A4 NECTIN4 ZNF469 TARS1 KLK4 CUL7 STX16 PLK4 AMTN SERPINH1 TBL2 CIB2 RBBP8 FLNB IL17RA PIK3R1 FERMT1 ESPN TCIRG1 TRAIP SEC24C IFITM5 RELT TNFRSF11A CLDN19 NUP133 CYP2R1 NDUFB11 CLEC7A ODAPH PEX1 P4HB HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY APOB NDE1 ABCG8 LDLRAP1 ABCG5 PCSK9 LDLR